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ADDRESS (Annotated Database of Disease-RElated Sequences and Structures) maps disease-associated/benign mutations from HUMSAVAR to residues on PDB structures. It also performs and integrates structural analysis of mutations, including contact numbers and prediction of free-energy changes upon mutations (ΔΔG) by EvoEF and FoldX. The ADDRESS database can be used for hypothesis assessment and benchmarking of disease-associated prediction algorithms.

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# UniProt accession
(Gene in neXtProt)		 Wild type amino acid Mutant amino acid Residue index in UniProt dbSNP Disease association [OMIM ID]
55001 Q8WZ42 (TTN) R C 21730 rs56141309 Benign
55002 Q8WZ42 (TTN) R Q 21747 rs55853138 Benign
55003 Q8WZ42 (TTN) G R 21925 rs55801134 Benign
55004 Q8WZ42 (TTN) R H 21995 rs56071233 Benign
55005 Q8WZ42 (TTN) A V 22045 rs55903402 Benign
55006 Q8WZ42 (TTN) R H 22149 rs55677134 Benign
55007 Q8WZ42 (TTN) V I 22160 rs55885640 Benign
55008 Q8WZ42 (TTN) I T 22261 rs55837610 Benign
55009 Q8WZ42 (TTN) K N 22306 rs56019808 Benign
55010 Q8WZ42 (TTN) R H 22357 rs10164753 Benign
55011 Q8WZ42 (TTN) L P 22408 rs56399205 Benign
55012 Q8WZ42 (TTN) P L 22584 rs55992239 Benign
55013 Q8WZ42 (TTN) T A 22670 rs56201325 Benign
55014 Q8WZ42 (TTN) A D 22770 rs55991022 Benign
55015 Q8WZ42 (TTN) E Q 22968 rs55762754 Benign
55016 Q8WZ42 (TTN) P L 23074 rs55713856 Benign
55017 Q8WZ42 (TTN) R C 23306 rs744426 Benign
55018 Q8WZ42 (TTN) S N 23807 rs3813243 Benign
55019 Q8WZ42 (TTN) V A 23891 rs55984930 Benign
55020 Q8WZ42 (TTN) Y H 23933 rs3813245 Benign
55021 Q8WZ42 (TTN) T M 23939 rs56372592 Benign
55022 Q8WZ42 (TTN) A G 24098 rs56391938 Benign
55023 Q8WZ42 (TTN) A T 24098 rs4894028 Benign
55024 Q8WZ42 (TTN) N S 24119 rs3813246 Benign
55025 Q8WZ42 (TTN) V I 24133 rs56340968 Benign
55026 Q8WZ42 (TTN) T A 24239 rs56018860 Benign
55027 Q8WZ42 (TTN) E K 24265 rs56341835 Benign
55028 Q8WZ42 (TTN) I T 24584 rs12463674 Benign
55029 Q8WZ42 (TTN) I T 24781 rs3731745 Benign
55030 Q8WZ42 (TTN) R H 24799 rs56044609 Benign
55031 Q8WZ42 (TTN) D H 24954 rs56307213 Benign
55032 Q8WZ42 (TTN) T M 24980 rs3731746 Benign
55033 Q8WZ42 (TTN) R H 25659 rs55850344 Benign
55034 Q8WZ42 (TTN) A T 25679 rs56365600 Benign
55035 Q8WZ42 (TTN) P A 25720 rs56137800 Benign
55036 Q8WZ42 (TTN) T K 25821 rs55933739 Benign
55037 Q8WZ42 (TTN) N K 25879 rs56264840 Benign
55038 Q8WZ42 (TTN) A V 25923 rs55634791 Benign
55039 Q8WZ42 (TTN) V I 26045 rs56309296 Benign
55040 Q8WZ42 (TTN) I V 26134 rs3829746 Benign
55041 Q8WZ42 (TTN) R C 26477 rs56057221 Benign
55042 Q8WZ42 (TTN) D Y 26843 rs56330345 Benign
55043 Q8WZ42 (TTN) K R 27346 rs1186947794 Benign
55044 Q8WZ42 (TTN) R C 27652 rs191482653 Benign
55045 Q8WZ42 (TTN) G V 27728 rs55898359 Benign
55046 Q8WZ42 (TTN) F L 27754 rs55940667 Benign
55047 Q8WZ42 (TTN) I T 27755 rs9808377 Benign
55048 Q8WZ42 (TTN) I V 27929 rs139506970 Benign
55049 Q8WZ42 (TTN) I L 28132 rs77853750 Benign
55050 Q8WZ42 (TTN) R Q 28168 rs72648238 Benign
55051 Q8WZ42 (TTN) R H 28538 rs149567378 Benign
55052 Q8WZ42 (TTN) I T 28572 rs114026724 Benign
55053 Q8WZ42 (TTN) A T 28948 rs148617456 Benign
55054 Q8WZ42 (TTN) I V 28986 rs535151633 Benign
55055 Q8WZ42 (TTN) G E 28993 rs376628842 Benign
55056 Q8WZ42 (TTN) L V 28998 rs373049260 Benign
55057 Q8WZ42 (TTN) V M 29070 rs747122 Benign
55058 Q8WZ42 (TTN) I V 29090 rs16866391 Benign
55059 Q8WZ42 (TTN) R C 29419 rs750303653 Benign
55060 Q8WZ42 (TTN) L P 29479 rs1310673663 Benign
55061 Q8WZ42 (TTN) D E 29976 rs72648256 Benign
55062 Q8WZ42 (TTN) S G 30042 rs72648257 Benign
55063 Q8WZ42 (TTN) R C 30107 rs142525903 Benign
55064 Q8WZ42 (TTN) S F 30125 rs191484894 Benign
55065 Q8WZ42 (TTN) L P 30211 rs62621206 Benign
55066 Q8WZ42 (TTN) I T 30412 rs62621236 Benign
55067 Q8WZ42 (TTN) T I 30674 rs56027402 Benign
55068 Q8WZ42 (TTN) F I 30818 rs56009327 Benign
55069 Q8WZ42 (TTN) E K 30825 rs55915651 Benign
55070 Q8WZ42 (TTN) I T 30856 rs55660660 Benign
55071 Q8WZ42 (TTN) G D 30887 rs56066673 Benign
55072 Q8WZ42 (TTN) G S 30887 rs56233675 Benign
55073 Q8WZ42 (TTN) R H 30897 rs3731749 Benign
55074 Q8WZ42 (TTN) R H 30907 rs55676195 Benign
55075 Q8WZ42 (TTN) R H 30946 rs55704830 Benign
55076 Q8WZ42 (TTN) I F 31081 rs72648270 Benign
55077 Q8WZ42 (TTN) R C 31107 rs72648272 Benign
55078 Q8WZ42 (TTN) A G 31124 rs72648273 Benign
55079 Q8WZ42 (TTN) N S 31156 rs149001703 Benign
55080 Q8WZ42 (TTN) P T 31246 rs55653324 Benign
55081 Q8WZ42 (TTN) R H 31330 rs4894028 Benign
55082 Q8WZ42 (TTN) C R 31690 rs56061641 Benign
55083 Q8WZ42 (TTN) R Q 31724 rs55742743 Benign
55084 Q8WZ42 (TTN) V I 31725 rs55675869 Benign
55085 Q8WZ42 (TTN) G S 31732 rs55880786 Benign
55086 Q8WZ42 (TTN) V I 31886 rs2278196 Benign
55087 Q8WZ42 (TTN) R C 32097 rs56273463 Benign
55088 Q8WZ42 (TTN) V I 32248 rs34924609 Benign
55089 Q8WZ42 (TTN) Q H 32281 rs55886356 Benign
55090 Q8WZ42 (TTN) R H 32323 rs55669553 Benign
55091 Q8WZ42 (TTN) I V 32558 rs56347248 Benign
55092 Q8WZ42 (TTN) M V 32610 rs56173891 Benign
55093 Q8WZ42 (TTN) G V 32637 rs3731752 Benign
55094 Q8WZ42 (TTN) E Q 32742 rs148525155 Benign
55095 Q8WZ42 (TTN) V A 32922 rs55945684 Benign
55096 Q8WZ42 (TTN) R H 32953 rs3829747 Benign
55097 Q8WZ42 (TTN) R Q 32996 rs199642423 Disease: Cardiomyopat hy, dilated 1G (CMD1G) [MIM:604145]
55098 Q8WZ42 (TTN) V L 33213 rs55866005 Benign
55099 Q8WZ42 (TTN) T M 33387 rs56001826 Benign
55100 Q8WZ42 (TTN) E D 33419 rs56308529 Benign
55101 Q8WZ42 (TTN) V M 33536 rs55865284 Benign
55102 Q8WZ42 (TTN) K Q 33568 rs56365812 Benign
55103 Q8WZ42 (TTN) E K 33616 rs56324595 Benign
55104 Q8WZ42 (TTN) P L 33620 rs16866380 Benign
55105 Q8WZ42 (TTN) E V 33886 rs55725279 Benign
55106 Q8WZ42 (TTN) I T 33899 rs55880440 Benign
55107 Q8WZ42 (TTN) T I 33955 rs55842557 Benign
55108 Q8WZ42 (TTN) V A 34115 rs16866378 Benign
55109 Q8WZ42 (TTN) I N 34306 rs281864928 Disease: Tardive tibial muscular dystrophy (TMD) [MIM:600334]
55110 Q8WZ42 (TTN) L P 34315 rs267607156 Disease: Tardive tibial muscular dystrophy (TMD) [MIM:600334]
55111 Q8WZ55 (BSND) R L 8 rs74315288 Disease: Bartter syndrome 4A, neonatal, with sensorineura l deafness (BARTS4A) [MIM:602522]
55112 Q8WZ55 (BSND) R W 8 rs74315285 Disease: Bartter syndrome 4A, neonatal, with sensorineura l deafness (BARTS4A) [MIM:602522]
55113 Q8WZ55 (BSND) G S 10 rs74315287 Disease: Bartter syndrome 4A, neonatal, with sensorineura l deafness (BARTS4A) [MIM:602522]
55114 Q8WZ55 (BSND) V I 43 rs34561376 Benign
55115 Q8WZ55 (BSND) G R 47 rs74315289 Disease: Bartter syndrome 4A, neonatal, with sensorineura l deafness (BARTS4A) [MIM:602522]
55116 Q8WZ60 (KLHL6) I V 518 rs35354575 Benign
55117 Q8WZ64 (ARAP2) K N 384 rs35468501 Benign
55118 Q8WZ64 (ARAP2) F L 1006 rs35218548 Benign
55119 Q8WZ64 (ARAP2) R Q 1523 rs4833069 Benign
55120 Q8WZ69 (C11orf40) F S 100 rs12795289 Benign
55121 Q8WZ74 (CTTNBP2) Q K 1148 rs10274022 Benign
55122 Q8WZ74 (CTTNBP2) L V 1213 rs62617115 Benign
55123 Q8WZ75 (ROBO4) Q R 54 rs59648931 Benign
55124 Q8WZ75 (ROBO4) R C 64 - Disease: Aortic valve disease 3 (AOVD3) [MIM:618496]
55125 Q8WZ75 (ROBO4) R Q 669 rs4408324 Benign
55126 Q8WZ79 (DNASE2B) Q H 3 rs3738573 Benign
55127 Q8WZ79 (DNASE2B) K R 47 rs3754274 Benign
55128 Q8WZ79 (DNASE2B) R K 51 rs3754274 Benign
55129 Q8WZ84 (OR8D1) F V 102 rs2510433 Benign
55130 Q8WZ84 (OR8D1) C W 127 rs7107539 Benign
55131 Q8WZ84 (OR8D1) L P 194 rs4936919 Benign
55132 Q8WZ92 (OR5P2) G R 7 rs1482804 Benign
55133 Q8WZ92 (OR5P2) N D 318 rs7949771 Benign
55134 Q8WZ94 (OR5P3) T K 158 rs16932503 Benign
55135 Q8WZ94 (OR5P3) F L 251 rs364427 Benign
55136 Q8WZA0 (LZIC) G D 104 rs2304778 Benign
55137 Q8WZA1 (POMGNT1) L R 120 rs886037949 Disease: Retinitis pigmentosa 76 (RP76) [MIM:617123]
55138 Q8WZA1 (POMGNT1) E K 156 rs886037947 Disease: Retinitis pigmentosa 76 (RP76) [MIM:617123]
55139 Q8WZA1 (POMGNT1) T P 176 rs386834030 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
55140 Q8WZA1 (POMGNT1) S R 198 rs386834032 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
55141 Q8WZA1 (POMGNT1) E K 223 rs386834036 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
55142 Q8WZA1 (POMGNT1) E V 250 rs17855359 Benign
55143 Q8WZA1 (POMGNT1) C Y 269 rs386834037 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
55144 Q8WZA1 (POMGNT1) I S 287 rs200863680 Disease: Retinitis pigmentosa 76 (RP76) [MIM:617123]
55145 Q8WZA1 (POMGNT1) R Q 311 rs193919336 Disease: Muscular dystrophy-dy stroglycanop athy congenital with mental retardation B3 (MDDGB3) [MIM:613151]
55146 Q8WZA1 (POMGNT1) R H 367 rs762972459 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
55147 Q8WZA1 (POMGNT1) W S 425 rs386834011 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
55148 Q8WZA1 (POMGNT1) D H 427 - Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
55149 Q8WZA1 (POMGNT1) R C 442 rs28940869 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
55150 Q8WZA1 (POMGNT1) C Y 490 rs267606960 Disease: Muscular dystrophy-dy stroglycanop athy congenital with mental retardation B3 (MDDGB3) [MIM:613151]
55151 Q8WZA1 (POMGNT1) P R 493 rs28942068 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
55152 Q8WZA1 (POMGNT1) G A 502 rs886037948 Disease: Retinitis pigmentosa 76 (RP76) [MIM:617123]
55153 Q8WZA1 (POMGNT1) V I 504 rs17102066 Benign
55154 Q8WZA1 (POMGNT1) S N 550 rs193919335 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]
55155 Q8WZA1 (POMGNT1) D N 556 rs74374973 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C3 (MDDGC3) [MIM:613157]
55156 Q8WZA1 (POMGNT1) R P 605 rs267606962 Disease: Muscular dystrophy-dy stroglycanop athy congenital with mental retardation B3 (MDDGB3) [MIM:613151]
55157 Q8WZA1 (POMGNT1) M V 623 rs6659553 Benign
55158 Q92187 (ST8SIA4) R K 7 rs199768560 Benign
55159 Q92466 (DDB2) M T 215 rs4647750 Benign
55160 Q92466 (DDB2) K E 244 rs121434639 Disease: Xeroderma pigmentosum complementat ion group E (XP-E) [MIM:278740]
55161 Q92466 (DDB2) R H 273 rs121434640 Disease: Xeroderma pigmentosum complementat ion group E (XP-E) [MIM:278740]
55162 Q92466 (DDB2) A T 293 rs4647751 Benign
55163 Q92481 (TFAP2B) P R 73 rs80338910 Disease: Char syndrome (CHAR) [MIM:169100]
55164 Q92481 (TFAP2B) R C 236 rs80338912 Disease: Char syndrome (CHAR) [MIM:169100]
55165 Q92481 (TFAP2B) R S 236 rs80338912 Disease: Char syndrome (CHAR) [MIM:169100]
55166 Q92481 (TFAP2B) A D 275 rs80338914 Disease: Char syndrome (CHAR) [MIM:169100]
55167 Q92481 (TFAP2B) R Q 285 rs80338915 Disease: Char syndrome (CHAR) [MIM:169100]
55168 Q92481 (TFAP2B) R C 300 rs80338917 Disease: Char syndrome (CHAR) [MIM:169100]
55169 Q92482 (AQP3) V M 43 rs34942735 Benign
55170 Q92484 (SMPDL3A) H Y 16 rs12523814 Benign
55171 Q92484 (SMPDL3A) P S 161 rs28385609 Benign
55172 Q92485 (SMPDL3B) R H 381 rs34560878 Benign
55173 Q92496 (CFHR4) E D 125 rs10801578 Benign
55174 Q92496 (CFHR4) N S 210 rs7417769 Benign
55175 Q92496 (CFHR4) G E 553 rs10494745 Benign
55176 Q92502 (STARD8) R Q 327 rs55962426 Benign
55177 Q92503 (SEC14L1) V M 37 rs1049416 Benign
55178 Q92503 (SEC14L1) A G 97 rs1049422 Benign
55179 Q92503 (SEC14L1) Y H 98 rs1049423 Benign
55180 Q92503 (SEC14L1) T P 188 rs673918 Benign
55181 Q92504 (SLC39A7) D N 87 rs34211188 Benign
55182 Q92504 (SLC39A7) G R 124 rs35690712 Benign
55183 Q92504 (SLC39A7) E G 280 rs1048778 Benign
55184 Q92506 (HSD17B8) H R 190 rs34491699 Benign
55185 Q92508 (PIEZO1) G S 718 rs755885744 Disease: Dehydrated hereditary stomatocytos is 1 with or without pseudohyperk alemia and/or perinatal edema (DHS1) [MIM:194380]
55186 Q92508 (PIEZO1) G S 782 rs200970763 Disease: Dehydrated hereditary stomatocytos is 1 with or without pseudohyperk alemia and/or perinatal edema (DHS1) [MIM:194380]
55187 Q92508 (PIEZO1) R Q 808 rs202103485 Disease: Dehydrated hereditary stomatocytos is 1 with or without pseudohyperk alemia and/or perinatal edema (DHS1) [MIM:194380]
55188 Q92508 (PIEZO1) S L 1117 rs587777765 Disease: Dehydrated hereditary stomatocytos is 1 with or without pseudohyperk alemia and/or perinatal edema (DHS1) [MIM:194380]
55189 Q92508 (PIEZO1) R P 1358 rs587776990 Disease: Dehydrated hereditary stomatocytos is 1 with or without pseudohyperk alemia and/or perinatal edema (DHS1) [MIM:194380]
55190 Q92508 (PIEZO1) A D 2003 - Disease: Dehydrated hereditary stomatocytos is 1 with or without pseudohyperk alemia and/or perinatal edema (DHS1) [MIM:194380]
55191 Q92508 (PIEZO1) A T 2020 rs587776989 Disease: Dehydrated hereditary stomatocytos is 1 with or without pseudohyperk alemia and/or perinatal edema (DHS1) [MIM:194380]
55192 Q92508 (PIEZO1) A V 2020 rs587777764 Disease: Dehydrated hereditary stomatocytos is 1 with or without pseudohyperk alemia and/or perinatal edema (DHS1) [MIM:194380]
55193 Q92508 (PIEZO1) T M 2127 rs587776991 Disease: Dehydrated hereditary stomatocytos is 1 with or without pseudohyperk alemia and/or perinatal edema (DHS1) [MIM:194380]
55194 Q92508 (PIEZO1) M R 2225 rs587776987 Disease: Dehydrated hereditary stomatocytos is 1 with or without pseudohyperk alemia and/or perinatal edema (DHS1) [MIM:194380]
55195 Q92508 (PIEZO1) R H 2456 rs587776988 Disease: Dehydrated hereditary stomatocytos is 1 with or without pseudohyperk alemia and/or perinatal edema (DHS1) [MIM:194380]
55196 Q92508 (PIEZO1) R Q 2488 rs749288233 Disease: Dehydrated hereditary stomatocytos is 1 with or without pseudohyperk alemia and/or perinatal edema (DHS1) [MIM:194380]
55197 Q92519 (TRIB2) H R 4 rs55813198 Benign
55198 Q92521 (PIGB) I L 68 rs17851556 Benign
55199 Q92521 (PIGB) R Q 71 - Disease: Epileptic encephalopat hy, early infantile, 80 (EIEE80) [MIM:618580]
55200 Q92521 (PIGB) S P 90 - Disease: Epileptic encephalopat hy, early infantile, 80 (EIEE80) [MIM:618580]
55201 Q92521 (PIGB) M T 162 rs2290344 Benign
55202 Q92521 (PIGB) R H 232 - Disease: Epileptic encephalopat hy, early infantile, 80 (EIEE80) [MIM:618580]
55203 Q92521 (PIGB) V L 286 - Disease: Epileptic encephalopat hy, early infantile, 80 (EIEE80) [MIM:618580]
55204 Q92521 (PIGB) W L 299 rs678892 Benign
55205 Q92521 (PIGB) A P 388 - Disease: Epileptic encephalopat hy, early infantile, 80 (EIEE80) [MIM:618580]
55206 Q92521 (PIGB) H R 407 - Disease: Epileptic encephalopat hy, early infantile, 80 (EIEE80) [MIM:618580]
55207 Q92521 (PIGB) L S 484 rs17851554 Benign
55208 Q92521 (PIGB) S G 502 rs652397 Benign
55209 Q92521 (PIGB) K T 551 rs2444042 Benign
55210 Q92523 (CPT1B) I V 66 rs3213445 Benign
55211 Q92523 (CPT1B) G D 320 rs2269383 Benign
55212 Q92523 (CPT1B) S C 427 rs8142477 Benign
55213 Q92523 (CPT1B) E K 531 rs470117 Benign
55214 Q92523 (CPT1B) S Y 664 rs1804702 Benign
55215 Q92526 (CCT6B) R Q 17 rs9635769 Benign
55216 Q92526 (CCT6B) V A 48 rs2230552 Benign
55217 Q92526 (CCT6B) G A 247 rs2230553 Benign
55218 Q92530 (PSMF1) F C 36 rs1803415 Benign
55219 Q92530 (PSMF1) H R 174 rs2235587 Benign
55220 Q92535 (PIGC) L W 189 rs1553259614 Disease: Glycosylphos phatidylinos itol biosynthesis defect 16 (GPIBD16) [MIM:617816]
55221 Q92535 (PIGC) L P 212 rs1553259602 Disease: Glycosylphos phatidylinos itol biosynthesis defect 16 (GPIBD16) [MIM:617816]
55222 Q92535 (PIGC) P S 266 rs1063412 Benign
55223 Q92538 (GBF1) G S 1693 rs11191274 Benign
55224 Q92539 (LPIN2) S L 734 rs80338807 Disease: Majeed syndrome (MJDS) [MIM:609628]
55225 Q92540 (SMG7) S F 627 rs34221194 Benign
55226 Q92540 (SMG7) V I 900 rs2298083 Benign
55227 Q92542 (NCSTN) V I 75 rs12045198 Benign
55228 Q92542 (NCSTN) E D 77 rs35603924 Benign
55229 Q92542 (NCSTN) P R 211 - Disease: Acne inversa, familial, 1 (ACNINV1) [MIM:142690]
55230 Q92543 (SNX19) V L 361 rs3751037 Benign
55231 Q92543 (SNX19) D E 396 rs1050081 Benign
55232 Q92543 (SNX19) S G 407 rs3190345 Benign
55233 Q92543 (SNX19) L F 618 rs681982 Benign
55234 Q92543 (SNX19) N S 753 rs4414223 Benign
55235 Q92543 (SNX19) L R 878 rs2298566 Benign
55236 Q92547 (TOPBP1) S L 817 rs17301766 Benign
55237 Q92547 (TOPBP1) N S 955 rs10935070 Benign
55238 Q92547 (TOPBP1) N S 1042 rs10935070 Benign
55239 Q92552 (MRPS27) G D 284 rs3209157 Benign
55240 Q92556 (ELMO1) I S 362 - Benign
55241 Q92560 (BAP1) E A 315 rs149974450 Benign
55242 Q92560 (BAP1) V E 616 rs35353781 Benign
55243 Q92561 (PHYHIP) R S 21 rs11547660 Benign
55244 Q92562 (FIG4) L P 17 rs587777713 Disease: Charcot- Marie-Tooth disease 4J (CMT4J) [MIM:611228]
55245 Q92562 (FIG4) I T 41 rs121908287 Disease: Charcot- Marie-Tooth disease 4J (CMT4J) [MIM:611228]
55246 Q92562 (FIG4) D G 48 rs1296748657 Benign
55247 Q92562 (FIG4) D Y 53 rs121908290 Disease: Amyotrophic lateral sclerosis 11 (ALS11) [MIM:612577]
55248 Q92562 (FIG4) G D 104 rs397509395 Disease: Yunis-Varon syndrome (YVS) [MIM:216340]
55249 Q92562 (FIG4) L P 175 rs397514707 Disease: Yunis-Varon syndrome (YVS) [MIM:216340]
55250 Q92562 (FIG4) E K 302 rs587777714 Disease: Charcot- Marie-Tooth disease 4J (CMT4J) [MIM:611228]
55251 Q92562 (FIG4) M L 364 rs2295837 Benign
55252 Q92562 (FIG4) R G 388 - Benign
55253 Q92562 (FIG4) I V 411 rs959747660 Benign
55254 Q92562 (FIG4) Y C 647 rs150301327 Benign
55255 Q92562 (FIG4) V A 654 rs9885672 Benign
55256 Q92562 (FIG4) D V 783 rs587777716 Disease: Polymicrogyr ia, bilateral temporooccip ital (BTOP) [MIM:612691]
55257 Q92562 (FIG4) I T 902 rs1162967341 Benign
55258 Q92563 (SPOCK2) G S 353 rs2306322 Benign
55259 Q92569 (PIK3R3) N K 283 rs785467 Benign
55260 Q92572 (AP3S1) P L 158 rs7733604 Benign
55261 Q92574 (TSC1) R W 22 rs749030456 Disease: Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
55262 Q92574 (TSC1) L P 72 rs118203354 Disease: Tuberous sclerosis 1 (TSC1) [MIM:191100]
55263 Q92574 (TSC1) L P 117 rs118203368 Disease: Tuberous sclerosis 1 (TSC1) [MIM:191100]
55264 Q92574 (TSC1) L P 180 rs118203396 Disease: Tuberous sclerosis 1 (TSC1) [MIM:191100]
55265 Q92574 (TSC1) R S 190 - Benign
55266 Q92574 (TSC1) L H 191 rs118203403 Disease: Tuberous sclerosis 1 (TSC1) [MIM:191100]
55267 Q92574 (TSC1) R P 204 rs397514834 Benign
55268 Q92574 (TSC1) R C 204 rs1060505021 Disease: Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
55269 Q92574 (TSC1) M R 224 rs118203426 Disease: Tuberous sclerosis 1 (TSC1) [MIM:191100]
55270 Q92574 (TSC1) M T 322 rs1073123 Benign
55271 Q92574 (TSC1) P S 448 rs118203518 Benign
55272 Q92574 (TSC1) R Q 500 rs118203538 Disease: Tuberous sclerosis 1 (TSC1) [MIM:191100]
55273 Q92574 (TSC1) R Q 509 rs118203543 Benign
55274 Q92574 (TSC1) A V 567 rs397514880 Benign
55275 Q92574 (TSC1) E D 577 rs118203571 Benign
55276 Q92574 (TSC1) K R 587 rs118203576 Benign
55277 Q92574 (TSC1) Q E 654 rs75820036 Disease: Tuberous sclerosis 1 (TSC1) [MIM:191100]
55278 Q92574 (TSC1) A E 726 rs118203655 Disease: Tuberous sclerosis 1 (TSC1) [MIM:191100]
55279 Q92574 (TSC1) H Y 732 rs118203657 Benign
55280 Q92574 (TSC1) E Q 809 rs118203692 Benign
55281 Q92574 (TSC1) S R 829 rs118203699 Benign
55282 Q92574 (TSC1) T S 899 rs76801599 Disease: Tuberous sclerosis 1 (TSC1) [MIM:191100]
55283 Q92574 (TSC1) G S 1035 rs118203742 Benign
55284 Q92574 (TSC1) R H 1097 rs118203750 Benign
55285 Q92574 (TSC1) G S 1108 rs118203753 Benign
55286 Q92575 (UBXN4) S R 458 rs2304602 Benign
55287 Q92576 (PHF3) V I 525 rs34288820 Benign
55288 Q92576 (PHF3) H Y 1834 rs3734881 Benign
55289 Q92581 (SLC9A6) G R 186 - Disease: Mental retardation, X-linked, syndromic, Christianson type (MRXSCH) [MIM:300243]
55290 Q92583 (CCL17) K N 5 rs34693308 Benign
55291 Q92583 (CCL17) V M 67 rs34379253 Benign
55292 Q92585 (MAML1) S N 583 rs41285557 Benign
55293 Q92585 (MAML1) S N 1007 rs6895902 Benign
55294 Q92597 (NDRG1) M V 67 rs2233319 Benign
55295 Q92597 (NDRG1) M L 111 rs2233328 Benign
55296 Q92600 (CNOT9) I T 143 - Benign
55297 Q92608 (DOCK2) R S 751 - Disease: Immunodefici ency 40 (IMD40) [MIM:616433]
55298 Q92608 (DOCK2) R W 1104 rs780318765 Disease: Immunodefici ency 40 (IMD40) [MIM:616433]
55299 Q92608 (DOCK2) D A 1558 rs13179480 Benign
55300 Q92608 (DOCK2) S T 1746 rs2270898 Benign
55301 Q92608 (DOCK2) T S 1779 rs2270898 Benign
55302 Q92609 (TBC1D5) I V 696 rs1138454 Benign
55303 Q92610 (ZNF592) S N 926 rs8182086 Benign
55304 Q92614 (MYO18A) A V 958 rs8076604 Benign
55305 Q92616 (GCN1) Y D 2155 rs3864938 Benign
55306 Q92618 (ZNF516) N S 4 rs3752097 Benign
55307 Q92618 (ZNF516) G S 239 rs12961584 Benign
55308 Q92619 (ARHGAP45) R H 139 rs1801284 Benign
55309 Q92619 (ARHGAP45) E D 259 rs2074442 Benign
55310 Q92619 (ARHGAP45) S G 439 rs7251797 Benign
55311 Q92619 (ARHGAP45) M I 515 rs36084354 Benign
55312 Q92619 (ARHGAP45) A P 886 rs34569196 Benign
55313 Q92620 (DHX38) R Q 324 rs766053952 Disease: Retinitis pigmentosa 84 (RP84) [MIM:618220]
55314 Q92620 (DHX38) T A 1217 - Benign
55315 Q92621 (NUP205) P S 33 rs7797639 Benign
55316 Q92621 (NUP205) E Q 1356 rs7810767 Benign
55317 Q92621 (NUP205) F S 1995 rs869312984 Disease: Nephrotic syndrome 13 (NPHS13) [MIM:616893]
55318 Q92623 (TTC9) P A 103 rs4902834 Benign
55319 Q92624 (APPBP2) S N 561 rs34146848 Benign
55320 Q92625 (ANKS1A) A D 355 rs6930932 Benign
55321 Q92625 (ANKS1A) L S 694 rs820085 Benign
55322 Q92626 (PXDN) R C 880 rs587777572 Disease: Anterior segment dysgenesis 7 (ASGD7) [MIM:269400]
55323 Q92626 (PXDN) R Q 1198 rs6723697 Benign
55324 Q92626 (PXDN) Q R 1261 rs6723697 Benign
55325 Q92629 (SGCD) R Q 96 rs45559835 Benign
55326 Q92629 (SGCD) S A 150 rs121909298 Disease: Cardiomyopat hy, dilated 1L (CMD1L) [MIM:606685]
55327 Q92629 (SGCD) E K 261 rs121909297 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 6 (LGMDR6) [MIM:601287]
55328 Q92630 (DYRK2) S G 98 rs35139851 Benign
55329 Q92630 (DYRK2) H N 245 rs34166200 Benign
55330 Q92630 (DYRK2) N S 295 rs56293072 Benign
55331 Q92630 (DYRK2) R Q 451 rs35688869 Benign
55332 Q92630 (DYRK2) F Y 455 rs55774594 Benign
55333 Q92633 (LPAR1) N S 77 rs11542862 Benign
55334 Q92636 (NSMAF) Y C 626 rs2228505 Benign
55335 Q92643 (PIGK) T A 16 rs12723684 Benign
55336 Q92664 (GTF3A) V L 245 rs7323 Benign
55337 Q92665 (MRPS31) T M 241 rs1854421 Benign
55338 Q92665 (MRPS31) D N 279 rs13508 Benign
55339 Q92667 (AKAP1) A V 18 rs17761023 Benign
55340 Q92667 (AKAP1) V M 60 rs2230770 Benign
55341 Q92667 (AKAP1) C Y 102 rs2230771 Benign
55342 Q92667 (AKAP1) R C 124 rs17833723 Benign
55343 Q92673 (SORL1) A T 528 rs2298813 Benign
55344 Q92673 (SORL1) Q E 1074 rs1699107 Benign
55345 Q92673 (SORL1) V I 1967 rs1792120 Benign
55346 Q92681 (RSC1A1) F L 62 rs3766163 Benign
55347 Q92681 (RSC1A1) C W 191 rs34091519 Benign
55348 Q92681 (RSC1A1) N S 271 rs3738648 Benign
55349 Q92685 (ALG3) I V 107 rs2233463 Benign
55350 Q92685 (ALG3) G D 118 rs28940588 Disease: Congenital disorder of glycosylatio n 1D (CDG1D) [MIM:601110]
55351 Q92685 (ALG3) R Q 171 rs119103236 Disease: Congenital disorder of glycosylatio n 1D (CDG1D) [MIM:601110]
55352 Q92696 (RABGGTA) T A 420 rs729421 Benign
55353 Q92698 (RAD54L) D G 21 rs28363192 Benign
55354 Q92698 (RAD54L) I M 74 rs28363209 Benign
55355 Q92698 (RAD54L) K E 151 rs2295466 Benign
55356 Q92698 (RAD54L) R C 202 rs28363218 Benign
55357 Q92698 (RAD54L) R Q 380 rs28363234 Benign
55358 Q92698 (RAD54L) R C 534 rs28363240 Benign
55359 Q92698 (RAD54L) I T 583 rs28363243 Benign
55360 Q92729 (PTPRU) T N 60 rs35332573 Benign
55361 Q92729 (PTPRU) R L 471 rs35745442 Benign
55362 Q92729 (PTPRU) N S 940 rs2235937 Benign
55363 Q92730 (RND1) P R 44 rs2270577 Benign
55364 Q92731 (ESR2) K R 314 - Disease: Ovarian dysgenesis 8 (ODG8) [MIM:618187]
55365 Q92733 (PRCC) P S 136 rs11264542 Benign
55366 Q92734 (TFG) R C 106 rs587777175 Disease: Spastic paraplegia 57, autosomal recessive (SPG57) [MIM:615658]
55367 Q92734 (TFG) R H 106 rs376971794 Disease: Spastic paraplegia 57, autosomal recessive (SPG57) [MIM:615658]
55368 Q92734 (TFG) A V 211 rs430945 Benign
55369 Q92734 (TFG) P L 285 rs207482230 Disease: Neuropathy, hereditary motor and sensory, Okinawa type (HMSNO) [MIM:604484]
55370 Q92734 (TFG) T P 364 rs6772054 Benign
55371 Q92736 (RYR2) P S 164 rs764772142 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55372 Q92736 (RYR2) R Q 176 rs794728708 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55373 Q92736 (RYR2) R L 414 rs371121679 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55374 Q92736 (RYR2) I F 419 rs1349176732 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55375 Q92736 (RYR2) R W 420 rs190140598 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55376 Q92736 (RYR2) L P 433 rs121918602 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55377 Q92736 (RYR2) V I 507 rs16835270 Benign
55378 Q92736 (RYR2) G S 1886 rs3766871 Benign
55379 Q92736 (RYR2) S L 2246 rs121918597 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55380 Q92736 (RYR2) V I 2306 rs794728746 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55381 Q92736 (RYR2) E D 2311 rs794728747 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55382 Q92736 (RYR2) P S 2328 rs121918603 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55383 Q92736 (RYR2) N I 2386 rs121918601 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55384 Q92736 (RYR2) A P 2387 rs794728753 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55385 Q92736 (RYR2) Y C 2392 rs772220753 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55386 Q92736 (RYR2) A T 2403 rs1456929288 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55387 Q92736 (RYR2) R S 2474 rs121918598 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55388 Q92736 (RYR2) T M 2504 rs769219555 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55389 Q92736 (RYR2) Q R 2958 rs34967813 Benign
55390 Q92736 (RYR2) L F 3778 rs1472508624 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55391 Q92736 (RYR2) C F 3800 rs1239093704 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55392 Q92736 (RYR2) G S 3946 rs794728777 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55393 Q92736 (RYR2) N S 4097 rs794728784 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55394 Q92736 (RYR2) N K 4104 rs121918599 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55395 Q92736 (RYR2) S T 4124 rs1385881911 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55396 Q92736 (RYR2) E K 4146 rs1349585791 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55397 Q92736 (RYR2) T P 4158 rs1202962809 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55398 Q92736 (RYR2) Q P 4159 rs1234963411 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55399 Q92736 (RYR2) Q R 4201 rs121918605 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55400 Q92736 (RYR2) R C 4497 rs121918600 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55401 Q92736 (RYR2) F C 4499 rs1457271141 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55402 Q92736 (RYR2) M I 4504 rs1323621379 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55403 Q92736 (RYR2) A T 4510 rs397516510 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55404 Q92736 (RYR2) A T 4556 rs189345192 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55405 Q92736 (RYR2) A P 4607 rs1359163728 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55406 Q92736 (RYR2) V F 4653 rs121918604 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55407 Q92736 (RYR2) G R 4671 rs1188352725 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55408 Q92736 (RYR2) V I 4771 rs794728804 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55409 Q92736 (RYR2) I V 4848 rs1363298408 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55410 Q92736 (RYR2) A G 4860 rs121918606 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55411 Q92736 (RYR2) I M 4867 rs1218096653 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55412 Q92736 (RYR2) V A 4880 rs1242723821 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55413 Q92736 (RYR2) N D 4895 rs1185619003 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55414 Q92736 (RYR2) P L 4902 rs1475453069 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55415 Q92736 (RYR2) E K 4950 rs886039172 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55416 Q92736 (RYR2) G E 4955 rs1553343100 Disease: -
55417 Q92736 (RYR2) R Q 4959 rs794728811 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopat hy (CPVT1) [MIM:604772]
55418 Q92743 (HTRA1) A V 20 rs369149111 Benign
55419 Q92743 (HTRA1) E G 51 - Benign
55420 Q92743 (HTRA1) S R 121 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 2 (CADASIL2) [MIM:616779]
55421 Q92743 (HTRA1) A S 123 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 2 (CADASIL2) [MIM:616779]
55422 Q92743 (HTRA1) R G 133 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 2 (CADASIL2) [MIM:616779]
55423 Q92743 (HTRA1) R L 166 rs864622781 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 2 (CADASIL2) [MIM:616779]
55424 Q92743 (HTRA1) A P 173 rs781563777 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 2 (CADASIL2) [MIM:616779]
55425 Q92743 (HTRA1) A T 252 rs113993968 Disease: Cerebral arteriopathy , autosomal recessive, with subcortical infarcts and leukoencepha lopathy (CARASIL) [MIM:600142]
55426 Q92743 (HTRA1) S G 284 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 2 (CADASIL2) [MIM:616779]
55427 Q92743 (HTRA1) S R 284 rs864622782 Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 2 (CADASIL2) [MIM:616779]
55428 Q92743 (HTRA1) P Q 285 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 2 (CADASIL2) [MIM:616779]
55429 Q92743 (HTRA1) F V 286 - Disease: Cerebral arteriopathy , autosomal dominant, with subcortical infarcts and leukoencepha lopathy, 2 (CADASIL2) [MIM:616779]
55430 Q92743 (HTRA1) V M 297 rs113993969 Disease: Cerebral arteriopathy , autosomal recessive, with subcortical infarcts and leukoencepha lopathy (CARASIL) [MIM:600142]
55431 Q92750 (TAF4B) I V 249 rs16942219 Benign
55432 Q92750 (TAF4B) N S 539 rs12963653 Benign
55433 Q92752 (TNR) I V 17 rs859398 Benign
55434 Q92752 (TNR) A S 128 rs2239819 Benign
55435 Q92752 (TNR) G S 293 rs3752516 Benign
55436 Q92752 (TNR) S N 302 rs35736986 Benign
55437 Q92752 (TNR) R K 643 rs859427 Benign
55438 Q92753 (RORB) L P 84 rs869312971 Disease: Epilepsy, idiopathic generalized 15 (EIG15) [MIM:618357]
55439 Q92759 (GTF2H4) R Q 337 rs3218820 Benign
55440 Q92764 (KRT35) S P 36 rs743686 Benign
55441 Q92764 (KRT35) C Y 441 rs12451652 Benign
55442 Q92764 (KRT35) P A 443 rs2071601 Benign
55443 Q92765 (FRZB) R W 200 rs288326 Benign
55444 Q92765 (FRZB) R G 324 rs7775 Disease: Osteoarthrit is 1 (OS1) [MIM:165720]
55445 Q92766 (RREB1) G R 195 rs1334576 Benign
55446 Q92766 (RREB1) G V 783 rs9502564 Benign
55447 Q92766 (RREB1) D N 1171 rs9379084 Benign
55448 Q92766 (RREB1) G R 1384 rs2281833 Benign
55449 Q92766 (RREB1) L P 1467 rs2256596 Benign
55450 Q92766 (RREB1) S Y 1499 rs35742417 Benign
55451 Q92769 (HDAC2) R C 230 rs1042903 Benign
55452 Q92769 (HDAC2) Y H 315 rs17852888 Benign
55453 Q92772 (CDKL2) Y S 77 rs35921414 Benign
55454 Q92772 (CDKL2) I T 132 rs17000707 Benign
55455 Q92772 (CDKL2) M T 197 rs56343717 Benign
55456 Q92772 (CDKL2) A V 411 rs56231363 Benign
55457 Q92777 (SYN2) T A 506 rs794999 Benign
55458 Q92781 (RDH5) R Q 21 rs3138143 Benign
55459 Q92781 (RDH5) I V 33 rs62638195 Benign
55460 Q92781 (RDH5) G S 35 rs759359491 Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55461 Q92781 (RDH5) R G 70 rs1058635 Benign
55462 Q92781 (RDH5) S F 73 rs62638185 Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55463 Q92781 (RDH5) L I 105 rs765993603 Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55464 Q92781 (RDH5) G R 107 - Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55465 Q92781 (RDH5) D N 128 rs377029071 Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55466 Q92781 (RDH5) V M 132 rs62638187 Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55467 Q92781 (RDH5) R W 157 rs104894374 Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55468 Q92781 (RDH5) V F 164 rs755168439 Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55469 Q92781 (RDH5) Y F 175 rs758411232 Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55470 Q92781 (RDH5) V G 177 rs104894373 Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55471 Q92781 (RDH5) K R 179 rs781112960 Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55472 Q92781 (RDH5) G W 238 rs62638191 Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55473 Q92781 (RDH5) M R 253 rs780377973 Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55474 Q92781 (RDH5) V G 264 - Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55475 Q92781 (RDH5) C W 267 - Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55476 Q92781 (RDH5) R H 280 rs62638193 Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55477 Q92781 (RDH5) Y H 281 rs62638194 Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55478 Q92781 (RDH5) A P 294 rs111033593 Disease: Fundus albipunctatu s (FALBI) [MIM:136880]
55479 Q92782 (DPF1) W S 20 - Benign
55480 Q92784 (DPF3) R H 177 rs17855717 Benign
55481 Q92785 (DPF2) C F 276 rs1555031372 Disease: Coffin-Siris syndrome 7 (CSS7) [MIM:618027]
55482 Q92785 (DPF2) C W 330 rs1555031500 Disease: Coffin-Siris syndrome 7 (CSS7) [MIM:618027]
55483 Q92785 (DPF2) D G 346 rs1555032044 Disease: Coffin-Siris syndrome 7 (CSS7) [MIM:618027]
55484 Q92785 (DPF2) R H 350 rs1555032051 Disease: Coffin-Siris syndrome 7 (CSS7) [MIM:618027]
55485 Q92785 (DPF2) W R 369 - Disease: Coffin-Siris syndrome 7 (CSS7) [MIM:618027]
55486 Q92786 (PROX1) H R 584 rs12121210 Benign
55487 Q92791 (P3H4) Q R 186 rs13412 Benign
55488 Q92793 (CREBBP) Q H 503 rs748447855 Benign
55489 Q92793 (CREBBP) P T 532 rs902901184 Benign
55490 Q92793 (CREBBP) I N 546 - Benign
55491 Q92793 (CREBBP) Y F 650 - Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55492 Q92793 (CREBBP) A T 789 rs746728741 Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55493 Q92793 (CREBBP) T A 910 rs143247685 Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55494 Q92793 (CREBBP) Y C 1175 rs28937315 Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55495 Q92793 (CREBBP) E A 1278 - Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55496 Q92793 (CREBBP) E K 1278 rs267606752 Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55497 Q92793 (CREBBP) R P 1378 rs121434626 Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55498 Q92793 (CREBBP) D Y 1406 - Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55499 Q92793 (CREBBP) V I 1414 rs130015 Benign
55500 Q92793 (CREBBP) Q P 1415 - Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55501 Q92793 (CREBBP) T I 1447 - Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55502 Q92793 (CREBBP) Y H 1450 rs1555473499 Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55503 Q92793 (CREBBP) H R 1470 rs797044860 Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55504 Q92793 (CREBBP) P T 1475 - Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55505 Q92793 (CREBBP) Y F 1503 - Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55506 Q92793 (CREBBP) L P 1507 rs1057520191 Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55507 Q92793 (CREBBP) D N 1543 - Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55508 Q92793 (CREBBP) R H 1664 - Disease: Rubinstein- Taybi syndrome 1 (RSTS1) [MIM:180849]
55509 Q92793 (CREBBP) C R 1710 - Disease: Menke- Hennekam syndrome 1 (MKHK1) [MIM:618332]
55510 Q92793 (CREBBP) H D 1719 - Disease: Menke- Hennekam syndrome 1 (MKHK1) [MIM:618332]
55511 Q92793 (CREBBP) E K 1724 - Disease: Menke- Hennekam syndrome 1 (MKHK1) [MIM:618332]
55512 Q92793 (CREBBP) L R 1747 - Disease: Menke- Hennekam syndrome 1 (MKHK1) [MIM:618332]
55513 Q92793 (CREBBP) A V 1782 - Disease: Menke- Hennekam syndrome 1 (MKHK1) [MIM:618332]
55514 Q92793 (CREBBP) R P 1786 - Disease: Menke- Hennekam syndrome 1 (MKHK1) [MIM:618332]
55515 Q92793 (CREBBP) C F 1819 - Disease: Menke- Hennekam syndrome 1 (MKHK1) [MIM:618332]
55516 Q92793 (CREBBP) C W 1826 - Disease: Menke- Hennekam syndrome 1 (MKHK1) [MIM:618332]
55517 Q92793 (CREBBP) H D 1829 - Disease: Menke- Hennekam syndrome 1 (MKHK1) [MIM:618332]
55518 Q92793 (CREBBP) C Y 1838 - Disease: Menke- Hennekam syndrome 1 (MKHK1) [MIM:618332]
55519 Q92793 (CREBBP) R Q 1867 rs1131691326 Disease: Menke- Hennekam syndrome 1 (MKHK1) [MIM:618332]
55520 Q92793 (CREBBP) R W 1867 - Disease: Menke- Hennekam syndrome 1 (MKHK1) [MIM:618332]
55521 Q92793 (CREBBP) R Q 1868 - Disease: Menke- Hennekam syndrome 1 (MKHK1) [MIM:618332]
55522 Q92793 (CREBBP) R W 1868 rs886039491 Disease: Menke- Hennekam syndrome 1 (MKHK1) [MIM:618332]
55523 Q92793 (CREBBP) A P 1870 - Disease: Menke- Hennekam syndrome 1 (MKHK1) [MIM:618332]
55524 Q92793 (CREBBP) M V 1872 rs797045037 Disease: Menke- Hennekam syndrome 1 (MKHK1) [MIM:618332]
55525 Q92794 (KAT6A) L S 134 rs3824276 Benign
55526 Q92802 (N4BP2L2) Y H 272 rs34062461 Benign
55527 Q92805 (GOLGA1) N S 220 rs35237091 Benign
55528 Q92805 (GOLGA1) L V 317 rs583134 Benign
55529 Q92805 (GOLGA1) T M 425 rs634710 Benign
55530 Q92806 (KCNJ9) A V 366 rs3001040 Benign
55531 Q92813 (DIO2) A D 81 rs2839859 Benign
55532 Q92813 (DIO2) T A 92 rs225014 Benign
55533 Q92817 (EVPL) N S 49 rs397833081 Benign
55534 Q92817 (EVPL) Y C 168 rs10445216 Benign
55535 Q92817 (EVPL) Q R 433 rs2071192 Benign
55536 Q92817 (EVPL) P S 1814 rs7342883 Benign
55537 Q92820 (GGH) C R 6 rs1800909 Benign
55538 Q92820 (GGH) A T 31 rs11545077 Benign
55539 Q92820 (GGH) T I 151 rs11545078 Benign
55540 Q92823 (NRCAM) P A 545 rs6958498 Benign
55541 Q92826 (HOXB13) T M 41 rs199799743 Benign
55542 Q92826 (HOXB13) G E 84 rs138213197 Disease: Prostate cancer (PC) [MIM:176807]
55543 Q92826 (HOXB13) R C 217 rs139475791 Benign
55544 Q92828 (CORO2A) R H 296 rs2231666 Benign
55545 Q92828 (CORO2A) R L 495 rs35787916 Benign
55546 Q92831 (KAT2B) N S 386 rs17006625 Benign
55547 Q92832 (NELL1) R Q 82 rs8176785 Benign
55548 Q92832 (NELL1) F V 211 rs35809043 Benign
55549 Q92832 (NELL1) V I 287 rs11820003 Benign
55550 Q92832 (NELL1) R W 354 rs8176786 Benign
55551 Q92834 (RPGR) G E 43 rs62638630 Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55552 Q92834 (RPGR) G R 43 rs62638629 Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55553 Q92834 (RPGR) G V 60 rs62638634 Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55554 Q92834 (RPGR) S I 76 rs1801685 Benign
55555 Q92834 (RPGR) H Q 98 rs62638636 Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55556 Q92834 (RPGR) T N 99 rs62638637 Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55557 Q92834 (RPGR) R G 127 rs62638643 Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55558 Q92834 (RPGR) F C 130 rs62638644 Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55559 Q92834 (RPGR) S L 152 - Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55560 Q92834 (RPGR) G R 173 rs137852550 Disease: Retinitis pigmentosa and sinorespirat ory infections with or without deafness (RPDSI) [MIM:300455]
55561 Q92834 (RPGR) Q H 184 rs5963403 Benign
55562 Q92834 (RPGR) G V 215 rs62650218 Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55563 Q92834 (RPGR) P S 235 rs62638651 Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55564 Q92834 (RPGR) C R 250 rs62650220 Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55565 Q92834 (RPGR) C Y 250 - Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55566 Q92834 (RPGR) G E 267 - Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55567 Q92834 (RPGR) G R 267 - Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55568 Q92834 (RPGR) G S 275 rs62642057 Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55569 Q92834 (RPGR) E G 285 - Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55570 Q92834 (RPGR) I V 289 rs62640587 Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55571 Q92834 (RPGR) C R 302 rs62640589 Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55572 Q92834 (RPGR) C Y 302 rs62640590 Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55573 Q92834 (RPGR) D N 312 - Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55574 Q92834 (RPGR) D Y 312 - Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55575 Q92834 (RPGR) G R 320 rs62640593 Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55576 Q92834 (RPGR) N D 345 rs41305223 Benign
55577 Q92834 (RPGR) R K 425 rs1801687 Benign
55578 Q92834 (RPGR) I V 431 rs62635003 Benign
55579 Q92834 (RPGR) G D 436 rs62635004 Disease: Retinitis pigmentosa 3 (RP3) [MIM:300029]
55580 Q92834 (RPGR) T M 533 rs41312104 Benign
55581 Q92834 (RPGR) G E 566 rs1801688 Benign
55582 Q92835 (INPP5D) H Y 1169 rs9247 Benign
55583 Q92838 (EDA) H Y 54 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55584 Q92838 (EDA) L R 55 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55585 Q92838 (EDA) C R 60 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55586 Q92838 (EDA) Y H 61 rs132630308 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55587 Q92838 (EDA) E K 63 rs132630311 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55588 Q92838 (EDA) R G 65 rs132630319 Disease: Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]
55589 Q92838 (EDA) R L 69 rs132630309 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55590 Q92838 (EDA) R C 153 rs397516662 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55591 Q92838 (EDA) R C 155 rs132630312 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55592 Q92838 (EDA) R C 156 rs132630313 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55593 Q92838 (EDA) R G 156 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55594 Q92838 (EDA) R H 156 rs132630314 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55595 Q92838 (EDA) R S 156 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55596 Q92838 (EDA) K N 158 rs727504649 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55597 Q92838 (EDA) G E 189 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55598 Q92838 (EDA) G A 198 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55599 Q92838 (EDA) G R 207 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55600 Q92838 (EDA) G V 207 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55601 Q92838 (EDA) P L 209 rs132630315 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55602 Q92838 (EDA) T R 211 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55603 Q92838 (EDA) G D 218 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55604 Q92838 (EDA) G A 224 rs132630316 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55605 Q92838 (EDA) H L 252 rs879255552 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55606 Q92838 (EDA) H Y 252 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55607 Q92838 (EDA) G C 255 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55608 Q92838 (EDA) G D 255 rs1064793105 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55609 Q92838 (EDA) A E 259 rs879255611 Disease: Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]
55610 Q92838 (EDA) I S 260 - Disease: Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]
55611 Q92838 (EDA) L R 266 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55612 Q92838 (EDA) G V 269 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55613 Q92838 (EDA) W G 274 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55614 Q92838 (EDA) W R 274 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55615 Q92838 (EDA) R C 289 rs879255551 Disease: Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]
55616 Q92838 (EDA) R L 289 - Disease: Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]
55617 Q92838 (EDA) G R 291 rs397516677 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55618 Q92838 (EDA) G W 291 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55619 Q92838 (EDA) L P 293 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55620 Q92838 (EDA) L V 296 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55621 Q92838 (EDA) D H 298 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55622 Q92838 (EDA) D Y 298 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55623 Q92838 (EDA) G D 299 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55624 Q92838 (EDA) G S 299 rs397516679 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55625 Q92838 (EDA) F S 302 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55626 Q92838 (EDA) Q H 306 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55627 Q92838 (EDA) V G 307 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55628 Q92838 (EDA) S R 319 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55629 Q92838 (EDA) Y C 320 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55630 Q92838 (EDA) V G 323 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55631 Q92838 (EDA) C Y 332 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55632 Q92838 (EDA) R H 334 rs142948132 Disease: Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]
55633 Q92838 (EDA) T M 338 rs132630321 Disease: Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]
55634 Q92838 (EDA) Y C 343 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55635 Q92838 (EDA) C Y 346 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55636 Q92838 (EDA) A T 349 rs132630317 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55637 Q92838 (EDA) L P 354 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55638 Q92838 (EDA) A D 356 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55639 Q92838 (EDA) A V 356 rs876657639 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55640 Q92838 (EDA) R P 357 rs61747506 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55641 Q92838 (EDA) Q E 358 rs132630320 Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55642 Q92838 (EDA) I N 360 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55643 Q92838 (EDA) N D 372 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55644 Q92838 (EDA) M I 373 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55645 Q92838 (EDA) S R 374 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55646 Q92838 (EDA) T M 378 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55647 Q92838 (EDA) T P 378 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55648 Q92838 (EDA) F V 379 - Disease: Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500]
55649 Q92838 (EDA) G R 381 - Disease: Ectodermal dysplasia 1, hypohidrotic , X-linked (XHED) [MIM:305100]
55650 Q92839 (HAS1) C R 14 rs7248778 Benign
55651 Q92843 (BCL2L2) Q R 133 rs910332 Benign
55652 Q92844 (TANK) G R 292 rs10183668 Benign
55653 Q92844 (TANK) P L 358 rs2229759 Benign
55654 Q92844 (TANK) R Q 394 rs3769969 Benign
55655 Q92845 (KIFAP3) S A 513 rs12075833 Benign
55656 Q92847 (GHSR) T I 5 rs2232165 Benign
55657 Q92847 (GHSR) A E 204 rs121917883 Disease: Growth hormone deficiency, isolated partial (GHDP) [MIM:615925]
55658 Q92847 (GHSR) R W 237 rs199588904 Disease: Growth hormone deficiency, isolated partial (GHDP) [MIM:615925]
55659 Q92851 (CASP10) R C 21 rs559979934 Benign
55660 Q92851 (CASP10) M T 147 rs121909776 Disease: Gastric cancer (GASC) [MIM:613659]
55661 Q92851 (CASP10) S C 239 rs41473647 Benign
55662 Q92851 (CASP10) L F 285 rs17860403 Disease: Autoimmune lymphoprolif erative syndrome 2A (ALPS2A) [MIM:603909]
55663 Q92851 (CASP10) I L 406 rs80358239 Benign
55664 Q92851 (CASP10) V I 410 rs13010627 Benign
55665 Q92851 (CASP10) A V 414 rs28936699 Disease: Familial non-Hodgkin lymphoma (NHL) [MIM:605027]
55666 Q92851 (CASP10) P S 444 rs41513147 Benign
55667 Q92851 (CASP10) Y C 446 rs17860405 Benign
55668 Q92854 (SEMA4D) A T 72 rs13284404 Benign
55669 Q92854 (SEMA4D) A T 327 rs11526468 Benign
55670 Q92858 (ATOH1) H Q 237 rs35182771 Benign
55671 Q92859 (NEO1) P L 534 rs4467039 Benign
55672 Q92870 (APBB2) R Q 179 rs4861358 Benign
55673 Q92876 (KLK6) R W 78 rs61469141 Benign
55674 Q92878 (RAD50) I L 94 rs28903085 Benign
55675 Q92878 (RAD50) V I 127 rs28903086 Benign
55676 Q92878 (RAD50) T I 191 rs2230017 Benign
55677 Q92878 (RAD50) R W 193 rs28903087 Benign
55678 Q92878 (RAD50) R H 224 rs28903088 Benign
55679 Q92878 (RAD50) V L 315 rs28903090 Benign
55680 Q92878 (RAD50) G A 469 rs55653181 Benign
55681 Q92878 (RAD50) K E 616 rs1047380 Benign
55682 Q92878 (RAD50) V A 697 rs1047382 Benign
55683 Q92878 (RAD50) V A 842 rs28903093 Benign
55684 Q92878 (RAD50) Y H 964 rs1047386 Benign
55685 Q92878 (RAD50) K M 973 rs1129482 Benign
55686 Q92878 (RAD50) R G 1038 rs1047387 Benign
55687 Q92882 (OSTF1) N S 48 rs2295862 Benign
55688 Q92882 (OSTF1) L F 159 rs17850197 Benign
55689 Q92887 (ABCC2) Y F 39 rs927344 Benign
55690 Q92887 (ABCC2) M L 246 rs17222744 Benign
55691 Q92887 (ABCC2) S N 281 rs56131651 Benign
55692 Q92887 (ABCC2) D G 333 rs17222674 Benign
55693 Q92887 (ABCC2) R H 353 rs7080681 Benign
55694 Q92887 (ABCC2) V I 417 rs2273697 Benign
55695 Q92887 (ABCC2) T I 486 rs17222589 Benign
55696 Q92887 (ABCC2) K E 495 rs17222561 Benign
55697 Q92887 (ABCC2) F L 562 rs17216233 Benign
55698 Q92887 (ABCC2) I T 670 rs17222632 Benign
55699 Q92887 (ABCC2) R W 768 rs56199535 Disease: Dubin- Johnson syndrome (DJS) [MIM:237500]
55700 Q92887 (ABCC2) S F 789 rs56220353 Benign
55701 Q92887 (ABCC2) L R 849 rs17222617 Benign
55702 Q92887 (ABCC2) G S 921 rs41318029 Benign
55703 Q92887 (ABCC2) I V 982 rs17222554 Benign
55704 Q92887 (ABCC2) I T 1036 rs45441199 Benign
55705 Q92887 (ABCC2) N S 1063 rs17222540 Benign
55706 Q92887 (ABCC2) R H 1150 rs72558200 Disease: Dubin- Johnson syndrome (DJS) [MIM:237500]
55707 Q92887 (ABCC2) I F 1173 rs72558201 Disease: Dubin- Johnson syndrome (DJS) [MIM:237500]
55708 Q92887 (ABCC2) R H 1174 rs139188247 Benign
55709 Q92887 (ABCC2) R L 1181 rs8187692 Benign
55710 Q92887 (ABCC2) V E 1188 rs17222723 Benign
55711 Q92887 (ABCC2) N K 1244 rs757141905 Benign
55712 Q92887 (ABCC2) T A 1273 rs8187699 Benign
55713 Q92887 (ABCC2) P L 1291 rs17216317 Benign
55714 Q92887 (ABCC2) Q R 1382 rs72558202 Disease: Dubin- Johnson syndrome (DJS) [MIM:237500]
55715 Q92887 (ABCC2) A T 1450 rs56296335 Benign
55716 Q92887 (ABCC2) C Y 1515 rs8187710 Benign
55717 Q92888 (ARHGEF1) P L 375 rs2303797 Benign
55718 Q92889 (ERCC4) V L 33 rs34205098 Benign
55719 Q92889 (ERCC4) R C 150 rs145402255 Benign
55720 Q92889 (ERCC4) R P 153 rs121913050 Disease: XFE progeroid syndrome (XFEPS) [MIM:610965]
55721 Q92889 (ERCC4) A V 168 rs2020961 Benign
55722 Q92889 (ERCC4) I M 225 rs764731249 Disease: Xeroderma pigmentosum complementat ion group F (XP-F) [MIM:278760]
55723 Q92889 (ERCC4) L P 230 rs397509402 Disease: Fanconi anemia complementat ion group Q (FANCQ) [MIM:615272]
55724 Q92889 (ERCC4) C R 236 rs397509403 Disease: Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) [MIM:278760]
55725 Q92889 (ERCC4) R H 267 rs143479220 Benign
55726 Q92889 (ERCC4) P S 379 rs1799802 Benign
55727 Q92889 (ERCC4) R Q 415 rs1800067 Benign
55728 Q92889 (ERCC4) R W 454 - Disease: Xeroderma pigmentosum complementat ion group F (XP-F) [MIM:278760]
55729 Q92889 (ERCC4) R Q 490 rs912480692 Disease: Xeroderma pigmentosum complementat ion group F (XP-F) [MIM:278760]
55730 Q92889 (ERCC4) E K 502 - Disease: Xeroderma pigmentosum complementat ion group F (XP-F) [MIM:278760]
55731 Q92889 (ERCC4) G R 513 rs769679311 Disease: Xeroderma pigmentosum complementat ion group F (XP-F) [MIM:278760]
55732 Q92889 (ERCC4) I T 529 - Disease: Xeroderma pigmentosum complementat ion group F (XP-F) [MIM:278760]
55733 Q92889 (ERCC4) T A 567 - Disease: Xeroderma pigmentosum complementat ion group F (XP-F) [MIM:278760]
55734 Q92889 (ERCC4) R T 576 rs1800068 Benign
55735 Q92889 (ERCC4) R W 589 rs147105770 Disease: Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) [MIM:278760]
55736 Q92889 (ERCC4) L P 608 - Disease: Xeroderma pigmentosum complementat ion group F (XP-F) [MIM:278760]
55737 Q92889 (ERCC4) T A 621 - Benign
55738 Q92889 (ERCC4) S P 662 rs2020955 Benign
55739 Q92889 (ERCC4) R S 689 rs149364215 Disease: Fanconi anemia complementat ion group Q (FANCQ) [MIM:615272]
55740 Q92889 (ERCC4) G D 703 - Benign
55741 Q92889 (ERCC4) I T 706 rs1800069 Benign
55742 Q92889 (ERCC4) I T 717 - Benign
55743 Q92889 (ERCC4) S F 768 rs12928650 Benign
55744 Q92889 (ERCC4) S F 786 rs1451008479 Disease: Fanconi anemia complementat ion group Q (FANCQ) [MIM:615272]
55745 Q92889 (ERCC4) R W 799 rs121913049 Disease: Xeroderma pigmentosum complementat ion group F (XP-F) [MIM:278760]
55746 Q92889 (ERCC4) A D 860 rs4986933 Benign
55747 Q92889 (ERCC4) I V 873 rs2020957 Benign
55748 Q92889 (ERCC4) E G 875 rs1800124 Benign
55749 Q92889 (ERCC4) G E 912 rs2020956 Benign
55750 Q92890 (UFD1) P A 130 rs17744624 Benign
55751 Q92900 (UPF1) A S 69 rs17339451 Benign
55752 Q92901 (RPL3L) P L 291 rs34265469 Benign
55753 Q92902 (HPS1) E D 100 rs1801285 Benign
55754 Q92902 (HPS1) A V 186 rs1801286 Benign
55755 Q92902 (HPS1) G W 283 rs11592273 Benign
55756 Q92902 (HPS1) A T 480 rs17109853 Benign
55757 Q92902 (HPS1) P R 491 rs2296434 Benign
55758 Q92902 (HPS1) Q R 603 rs2296436 Benign
55759 Q92902 (HPS1) V I 630 rs139061260 Benign
55760 Q92903 (CDS1) L F 99 rs36068434 Benign
55761 Q92904 (DAZL) T A 12 rs11710967 Benign
55762 Q92904 (DAZL) T A 54 rs121918346 Benign
55763 Q92908 (GATA6) G R 15 rs116262672 Benign
55764 Q92908 (GATA6) P S 91 rs766886560 Disease: -
55765 Q92908 (GATA6) A T 177 rs1263887431 Disease: -
55766 Q92908 (GATA6) A V 178 rs387906815 Disease: Atrioventric ular septal defect 5 (AVSD5) [MIM:614474]
55767 Q92908 (GATA6) S N 184 rs387906816 Disease: Tetralogy of Fallot (TOF) [MIM:187500]
55768 Q92908 (GATA6) Y S 235 - Disease: -
55769 Q92908 (GATA6) T A 452 rs387906817 Disease: Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
55770 Q92908 (GATA6) R C 456 rs387906818 Disease: Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
55771 Q92908 (GATA6) R H 456 rs387906819 Disease: Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
55772 Q92908 (GATA6) N D 466 rs387906813 Disease: Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
55773 Q92908 (GATA6) N H 466 rs387906813 Disease: Conotruncal heart malformation s (CTHM) [MIM:217095]
55774 Q92908 (GATA6) A T 467 rs387906820 Disease: Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
55775 Q92908 (GATA6) G V 469 - Disease: -
55776 Q92908 (GATA6) K Q 473 - Disease: Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]
55777 Q92908 (GATA6) A G 543 rs761668180 Disease: -
55778 Q92908 (GATA6) R L 585 rs201707559 Disease: -
55779 Q92911 (SLC5A5) G R 93 rs121909178 Disease: Thyroid dyshormonoge nesis 1 (TDH1) [MIM:274400]
55780 Q92911 (SLC5A5) A P 102 - Benign
55781 Q92911 (SLC5A5) Q E 267 rs121909176 Disease: Thyroid dyshormonoge nesis 1 (TDH1) [MIM:274400]
55782 Q92911 (SLC5A5) C G 298 rs8108188 Benign
55783 Q92911 (SLC5A5) T P 354 rs121909174 Disease: Thyroid dyshormonoge nesis 1 (TDH1) [MIM:274400]
55784 Q92911 (SLC5A5) G R 395 rs121909180 Disease: Thyroid dyshormonoge nesis 1 (TDH1) [MIM:274400]
55785 Q92911 (SLC5A5) G E 543 rs121909179 Disease: Thyroid dyshormonoge nesis 1 (TDH1) [MIM:274400]
55786 Q92913 (FGF13) K Q 197 rs17510270 Benign
55787 Q92914 (FGF11) R G 163 - Benign
55788 Q92915 (FGF14) G C 42 rs141304687 Benign
55789 Q92915 (FGF14) F S 145 rs104894393 Disease: Spinocerebel lar ataxia 27 (SCA27) [MIM:609307]
55790 Q92918 (MAP4K1) P T 312 rs55924696 Benign
55791 Q92918 (MAP4K1) P S 351 rs34591617 Benign
55792 Q92918 (MAP4K1) P L 361 rs56060067 Benign
55793 Q92918 (MAP4K1) N S 811 rs12975825 Benign
55794 Q92922 (SMARCC1) H P 526 - Disease: -
55795 Q92922 (SMARCC1) P H 1075 rs3772406 Benign
55796 Q92932 (PTPRN2) S T 140 rs3800855 Benign
55797 Q92932 (PTPRN2) S P 208 rs1130495 Benign
55798 Q92932 (PTPRN2) R H 213 rs1130496 Benign
55799 Q92932 (PTPRN2) S N 325 rs1130499 Benign
55800 Q92932 (PTPRN2) V M 343 rs3752368 Benign
55801 Q92932 (PTPRN2) L H 388 rs7456452 Benign
55802 Q92934 (BAD) A S 107 rs3729933 Benign
55803 Q92935 (EXTL1) R H 163 rs34277678 Benign
55804 Q92935 (EXTL1) H N 379 rs2736831 Benign
55805 Q92947 (GCDH) E D 64 rs1555749239 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55806 Q92947 (GCDH) R C 88 rs142967670 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55807 Q92947 (GCDH) R L 94 rs566417795 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55808 Q92947 (GCDH) G R 101 rs1273164833 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55809 Q92947 (GCDH) C Y 115 rs776758971 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55810 Q92947 (GCDH) A V 122 rs766325846 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55811 Q92947 (GCDH) R G 128 - Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55812 Q92947 (GCDH) R G 138 rs897036690 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55813 Q92947 (GCDH) S L 139 rs139851890 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55814 Q92947 (GCDH) V I 148 rs1003611285 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55815 Q92947 (GCDH) R Q 161 rs777201305 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55816 Q92947 (GCDH) G R 178 rs749452002 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55817 Q92947 (GCDH) L R 179 rs774526353 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55818 Q92947 (GCDH) M T 191 rs149120354 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55819 Q92947 (GCDH) A T 195 - Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55820 Q92947 (GCDH) R P 227 rs121434373 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55821 Q92947 (GCDH) F L 236 rs747920711 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55822 Q92947 (GCDH) R Q 257 rs751583656 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55823 Q92947 (GCDH) R W 257 rs766518430 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55824 Q92947 (GCDH) M V 263 - Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55825 Q92947 (GCDH) M V 266 rs745357523 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55826 Q92947 (GCDH) G V 268 rs765723076 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55827 Q92947 (GCDH) P S 278 rs751742575 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55828 Q92947 (GCDH) L P 283 - Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55829 Q92947 (GCDH) A T 293 rs121434371 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55830 Q92947 (GCDH) R W 294 - Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55831 Q92947 (GCDH) Y H 295 rs121434366 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55832 Q92947 (GCDH) A T 298 rs761765983 Benign
55833 Q92947 (GCDH) A V 298 rs764993096 Benign
55834 Q92947 (GCDH) S L 305 rs1260580183 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55835 Q92947 (GCDH) C S 308 rs1205368991 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55836 Q92947 (GCDH) L W 309 rs1247712895 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55837 Q92947 (GCDH) R W 313 rs779315456 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55838 Q92947 (GCDH) Q E 333 rs794726972 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55839 Q92947 (GCDH) A T 349 rs1257292639 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55840 Q92947 (GCDH) G R 354 - Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55841 Q92947 (GCDH) G S 354 rs768925619 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55842 Q92947 (GCDH) R C 355 rs781477694 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55843 Q92947 (GCDH) R H 355 rs748275416 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55844 Q92947 (GCDH) E K 365 rs121434370 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55845 Q92947 (GCDH) C R 375 rs1348974766 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55846 Q92947 (GCDH) A T 382 rs567564095 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55847 Q92947 (GCDH) R C 383 rs150938052 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55848 Q92947 (GCDH) R H 383 rs764608975 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55849 Q92947 (GCDH) R Q 386 rs398123190 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55850 Q92947 (GCDH) G A 390 rs778153326 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55851 Q92947 (GCDH) G R 390 rs372983141 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55852 Q92947 (GCDH) N D 392 rs1282266790 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55853 Q92947 (GCDH) V M 400 rs121434372 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55854 Q92947 (GCDH) R Q 402 rs786204626 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55855 Q92947 (GCDH) R W 402 rs121434369 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55856 Q92947 (GCDH) H R 403 - Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55857 Q92947 (GCDH) N K 406 - Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55858 Q92947 (GCDH) L P 407 rs1555751379 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55859 Q92947 (GCDH) E K 414 rs147611168 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55860 Q92947 (GCDH) T I 416 rs121434368 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55861 Q92947 (GCDH) A T 421 rs151201155 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55862 Q92947 (GCDH) A V 421 rs121434367 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55863 Q92947 (GCDH) T M 429 rs745360675 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55864 Q92947 (GCDH) A E 433 rs933624223 Disease: Glutaric aciduria 1 (GA1) [MIM:231670]
55865 Q92953 (KCNB2) E G 657 rs16938507 Benign
55866 Q92954 (PRG4) R W 180 rs2273779 Benign
55867 Q92954 (PRG4) N S 1130 rs10158395 Benign
55868 Q92954 (PRG4) I T 1272 rs1293985 Benign
55869 Q92954 (PRG4) T M 1296 rs12134934 Benign
55870 Q92956 (TNFRSF14) K R 17 rs4870 Benign
55871 Q92956 (TNFRSF14) A T 117 rs2234163 Benign
55872 Q92956 (TNFRSF14) G E 174 rs11573986 Benign
55873 Q92956 (TNFRSF14) V I 241 rs2234167 Benign
55874 Q92959 (SLCO2A1) I F 85 rs387907296 Disease: Hypertrophic osteoarthrop athy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
55875 Q92959 (SLCO2A1) R H 97 rs1376989560 Disease: Hypertrophic osteoarthrop athy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
55876 Q92959 (SLCO2A1) G A 181 - Disease: Hypertrophic osteoarthrop athy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
55877 Q92959 (SLCO2A1) G D 181 - Disease: Hypertrophic osteoarthrop athy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
55878 Q92959 (SLCO2A1) S L 204 rs555934769 Disease: Hypertrophic osteoarthrop athy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
55879 Q92959 (SLCO2A1) G R 222 rs774795340 Disease: Hypertrophic osteoarthrop athy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
55880 Q92959 (SLCO2A1) G E 255 rs387906806 Disease: Hypertrophic osteoarthrop athy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
55881 Q92959 (SLCO2A1) G R 255 - Disease: Hypertrophic osteoarthrop athy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
55882 Q92959 (SLCO2A1) A T 396 rs34550074 Benign
55883 Q92959 (SLCO2A1) C F 420 rs387907295 Disease: Hypertrophic osteoarthrop athy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
55884 Q92959 (SLCO2A1) R C 445 rs146970901 Benign
55885 Q92959 (SLCO2A1) Q H 556 - Disease: Hypertrophic osteoarthrop athy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
55886 Q92959 (SLCO2A1) F S 557 - Disease: Hypertrophic osteoarthrop athy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
55887 Q92959 (SLCO2A1) W G 565 - Disease: Hypertrophic osteoarthrop athy, primary, autosomal recessive, 2 (PHOAR2) [MIM:614441]
55888 Q92963 (RIT1) S T 35 rs869025189 Disease: -
55889 Q92963 (RIT1) A G 57 rs672601334 Disease: Noonan syndrome 8 (NS8) [MIM:615355]
55890 Q92963 (RIT1) E G 81 rs869025193 Disease: Noonan syndrome 8 (NS8) [MIM:615355]
55891 Q92963 (RIT1) F L 82 rs730881014 Disease: Noonan syndrome 8 (NS8) [MIM:615355]
55892 Q92963 (RIT1) F V 82 rs869025194 Disease: -
55893 Q92963 (RIT1) T P 83 rs869025195 Disease: -
55894 Q92963 (RIT1) Y H 89 rs869025197 Disease: -
55895 Q92963 (RIT1) M I 90 rs483352822 Disease: Noonan syndrome 8 (NS8) [MIM:615355]
55896 Q92963 (RIT1) G A 95 rs672601335 Disease: Noonan syndrome 8 (NS8) [MIM:615355]
55897 Q92966 (SNAPC3) E A 398 rs3087653 Benign
55898 Q92968 (PEX13) I T 326 rs61752115 Disease: Peroxisome biogenesis disorder 11B (PBD11B) [MIM:614885]
55899 Q92979 (EMG1) A G 34 rs11064480 Benign
55900 Q92979 (EMG1) D G 86 rs74435397 Disease: Bowen- Conradi syndrome (BWCNS) [MIM:211180]
55901 Q92982 (NINJ1) A D 110 rs2275848 Benign
55902 Q92985 (IRF7) K E 179 rs1061502 Benign
55903 Q92985 (IRF7) D N 204 rs41313489 Benign
55904 Q92985 (IRF7) F V 410 rs786205223 Disease: Immunodefici ency 39 (IMD39) [MIM:616345]
55905 Q92985 (IRF7) Q R 412 rs1131665 Benign
55906 Q92989 (CLP1) R H 140 rs587777616 Disease: Pontocerebel lar hypoplasia 10 (PCH10) [MIM:615803]
55907 Q92990 (GLMN) L S 336 rs35258161 Benign
55908 Q92993 (KAT5) P T 78 rs11541271 Benign
55909 Q92994 (BRF1) R W 223 rs370270828 Disease: Cerebellofac iodental syndrome (CFDS) [MIM:616202]
55910 Q92994 (BRF1) S L 226 rs606231416 Disease: Cerebellofac iodental syndrome (CFDS) [MIM:616202]
55911 Q92994 (BRF1) T M 259 rs373957300 Disease: Cerebellofac iodental syndrome (CFDS) [MIM:616202]
55912 Q92994 (BRF1) P H 292 rs606231450 Disease: Cerebellofac iodental syndrome (CFDS) [MIM:616202]
55913 Q92997 (DVL3) W L 433 rs17853048 Benign
55914 Q93008 (USP9X) L H 2093 rs587777317 Disease: Mental retardation, X-linked 99 (MRX99) [MIM:300919]
55915 Q93033 (CD101) G S 157 rs34999087 Benign
55916 Q93033 (CD101) N S 225 rs3754112 Benign
55917 Q93033 (CD101) M V 415 rs2249265 Benign
55918 Q93033 (CD101) R Q 518 rs17235766 Benign
55919 Q93033 (CD101) S R 525 rs17235773 Benign
55920 Q93033 (CD101) T S 631 rs34510762 Benign
55921 Q93033 (CD101) R Q 933 rs12093834 Benign
55922 Q93033 (CD101) L F 955 rs34223095 Benign
55923 Q93033 (CD101) V I 965 rs12097758 Benign
55924 Q93033 (CD101) R C 988 rs12067543 Benign
55925 Q93033 (CD101) R W 992 rs34248572 Benign
55926 Q93038 (TNFRSF25) R Q 23 rs35771371 Benign
55927 Q93038 (TNFRSF25) D G 159 rs11800462 Benign
55928 Q93038 (TNFRSF25) P R 254 rs34529016 Benign
55929 Q93038 (TNFRSF25) R L 370 rs1064590 Benign
55930 Q93038 (TNFRSF25) R H 381 rs1059333 Benign
55931 Q93052 (LPP) T A 146 rs35417432 Benign
55932 Q93052 (LPP) S P 259 rs35940579 Benign
55933 Q93052 (LPP) Y H 346 rs7645635 Benign
55934 Q93063 (EXT2) M V 42 rs4755779 Benign
55935 Q93063 (EXT2) C R 85 - Disease: Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
55936 Q93063 (EXT2) M R 87 rs140075817 Disease: Seizures, scoliosis, and macrocephaly /microcephal y syndrome (SSMS) [MIM:616682]
55937 Q93063 (EXT2) R C 95 rs376292686 Disease: Seizures, scoliosis, and macrocephaly /microcephal y syndrome (SSMS) [MIM:616682]
55938 Q93063 (EXT2) L R 152 - Disease: Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
55939 Q93063 (EXT2) R S 179 - Disease: Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
55940 Q93063 (EXT2) A V 202 rs771803942 Disease: Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
55941 Q93063 (EXT2) R P 223 rs764379119 Disease: Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
55942 Q93063 (EXT2) D N 227 rs121918280 Disease: Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
55943 Q93063 (EXT2) I T 380 - Disease: Hereditary multiple exostoses 2 (EXT2) [MIM:133701]
55944 Q93063 (EXT2) E K 576 rs373582542 Benign
55945 Q93070 (ART4) G V 108 rs28362797 Benign
55946 Q93070 (ART4) T I 117 rs28362798 Benign
55947 Q93070 (ART4) D E 135 rs28362799 Benign
55948 Q93070 (ART4) T M 189 rs28362800 Benign
55949 Q93070 (ART4) N D 265 rs11276 Benign
55950 Q93070 (ART4) L V 300 rs3088190 Benign
55951 Q93074 (MED12) R W 961 rs80338758 Disease: Opitz- Kaveggia syndrome (OKS) [MIM:305450]
55952 Q93074 (MED12) N S 1007 rs80338759 Disease: Lujan-Fryns syndrome (LUJFRYS) [MIM:309520]
55953 Q93074 (MED12) R H 1148 rs387907360 Disease: Ohdo syndrome, X-linked (OHDOX) [MIM:300895]
55954 Q93074 (MED12) S P 1165 rs387907361 Disease: Ohdo syndrome, X-linked (OHDOX) [MIM:300895]
55955 Q93074 (MED12) Q R 1392 rs1139013 Benign
55956 Q93074 (MED12) H N 1729 rs387907362 Disease: Ohdo syndrome, X-linked (OHDOX) [MIM:300895]
55957 Q93075 (TATDN2) H R 217 rs2241314 Benign
55958 Q93075 (TATDN2) V I 256 rs394558 Benign
55959 Q93075 (TATDN2) P L 358 rs2075352 Benign
55960 Q93084 (ATP2A3) Q H 869 rs11654827 Benign
55961 Q93088 (BHMT) G S 199 rs59866108 Benign
55962 Q93088 (BHMT) R Q 239 rs3733890 Benign
55963 Q93091 (RNASE6) R Q 89 rs1045922 Benign
55964 Q93098 (WNT8B) C S 11 rs3793771 Benign
55965 Q93099 (HGD) E A 3 rs200412910 Disease: Alkaptonuria (AKU) [MIM:203500]
55966 Q93099 (HGD) E K 13 rs1458752246 Disease: Alkaptonuria (AKU) [MIM:203500]
55967 Q93099 (HGD) D N 18 - Disease: Alkaptonuria (AKU) [MIM:203500]
55968 Q93099 (HGD) L P 25 - Disease: Alkaptonuria (AKU) [MIM:203500]
55969 Q93099 (HGD) Q R 33 - Disease: Alkaptonuria (AKU) [MIM:203500]
55970 Q93099 (HGD) E A 42 rs373921680 Disease: Alkaptonuria (AKU) [MIM:203500]
55971 Q93099 (HGD) L F 44 rs1049246177 Disease: Alkaptonuria (AKU) [MIM:203500]
55972 Q93099 (HGD) R Q 53 rs200808744 Disease: Alkaptonuria (AKU) [MIM:203500]
55973 Q93099 (HGD) W G 60 - Disease: Alkaptonuria (AKU) [MIM:203500]
55974 Q93099 (HGD) L P 61 rs1324654414 Disease: Alkaptonuria (AKU) [MIM:203500]
55975 Q93099 (HGD) Y C 62 rs1174584850 Disease: Alkaptonuria (AKU) [MIM:203500]
55976 Q93099 (HGD) F L 73 - Disease: Alkaptonuria (AKU) [MIM:203500]
55977 Q93099 (HGD) Q H 80 rs2255543 Benign
55978 Q93099 (HGD) P T 92 - Disease: Alkaptonuria (AKU) [MIM:203500]
55979 Q93099 (HGD) W G 97 - Disease: Alkaptonuria (AKU) [MIM:203500]
55980 Q93099 (HGD) W R 97 - Disease: Alkaptonuria (AKU) [MIM:203500]
55981 Q93099 (HGD) G R 115 rs755734596 Disease: Alkaptonuria (AKU) [MIM:203500]
55982 Q93099 (HGD) L P 116 rs569846003 Disease: Alkaptonuria (AKU) [MIM:203500]
55983 Q93099 (HGD) C F 120 rs752153829 Disease: Alkaptonuria (AKU) [MIM:203500]
55984 Q93099 (HGD) C W 120 rs149165166 Disease: Alkaptonuria (AKU) [MIM:203500]
55985 Q93099 (HGD) A D 122 - Disease: Alkaptonuria (AKU) [MIM:203500]
55986 Q93099 (HGD) A V 122 rs544956641 Disease: Alkaptonuria (AKU) [MIM:203500]
55987 Q93099 (HGD) G A 123 rs374473331 Disease: Alkaptonuria (AKU) [MIM:203500]
55988 Q93099 (HGD) G R 123 rs564979861 Disease: Alkaptonuria (AKU) [MIM:203500]
55989 Q93099 (HGD) L P 137 - Disease: Alkaptonuria (AKU) [MIM:203500]
55990 Q93099 (HGD) G A 152 rs1553717936 Disease: Alkaptonuria (AKU) [MIM:203500]
55991 Q93099 (HGD) D G 153 rs775274569 Disease: Alkaptonuria (AKU) [MIM:203500]
55992 Q93099 (HGD) P L 158 rs375396766 Disease: Alkaptonuria (AKU) [MIM:203500]
55993 Q93099 (HGD) G R 161 rs28941783 Disease: Alkaptonuria (AKU) [MIM:203500]
55994 Q93099 (HGD) E D 168 rs780173554 Disease: Alkaptonuria (AKU) [MIM:203500]
55995 Q93099 (HGD) E K 168 rs375283568 Disease: Alkaptonuria (AKU) [MIM:203500]
55996 Q93099 (HGD) F L 169 rs756134838 Disease: Alkaptonuria (AKU) [MIM:203500]
55997 Q93099 (HGD) K N 171 - Disease: Alkaptonuria (AKU) [MIM:203500]
55998 Q93099 (HGD) M T 172 - Benign
55999 Q93099 (HGD) E G 178 - Disease: Alkaptonuria (AKU) [MIM:203500]
56000 Q93099 (HGD) Q R 183 rs1349543050 Disease: Alkaptonuria (AKU) [MIM:203500]
56001 Q93099 (HGD) R G 187 - Disease: Alkaptonuria (AKU) [MIM:203500]
56002 Q93099 (HGD) S I 189 - Disease: Alkaptonuria (AKU) [MIM:203500]
56003 Q93099 (HGD) R G 197 rs1414279737 Disease: Alkaptonuria (AKU) [MIM:203500]
56004 Q93099 (HGD) I T 216 rs767201131 Disease: Alkaptonuria (AKU) [MIM:203500]
56005 Q93099 (HGD) G W 217 - Disease: Alkaptonuria (AKU) [MIM:203500]
56006 Q93099 (HGD) N S 219 - Disease: Alkaptonuria (AKU) [MIM:203500]
56007 Q93099 (HGD) R H 225 rs562853291 Disease: Alkaptonuria (AKU) [MIM:203500]
56008 Q93099 (HGD) R L 225 - Disease: Alkaptonuria (AKU) [MIM:203500]
56009 Q93099 (HGD) R P 225 rs562853291 Disease: Alkaptonuria (AKU) [MIM:203500]
56010 Q93099 (HGD) F S 227 - Disease: Alkaptonuria (AKU) [MIM:203500]
56011 Q93099 (HGD) P S 230 rs28942100 Disease: Alkaptonuria (AKU) [MIM:203500]
56012 Q93099 (HGD) P T 230 - Disease: Alkaptonuria (AKU) [MIM:203500]
56013 Q93099 (HGD) V F 245 - Disease: Alkaptonuria (AKU) [MIM:203500]
56014 Q93099 (HGD) Q P 258 rs759843592 Disease: Alkaptonuria (AKU) [MIM:203500]
56015 Q93099 (HGD) H R 269 rs756522409 Disease: Alkaptonuria (AKU) [MIM:203500]
56016 Q93099 (HGD) G R 270 rs120074174 Disease: Alkaptonuria (AKU) [MIM:203500]
56017 Q93099 (HGD) K N 276 rs1160502581 Disease: Alkaptonuria (AKU) [MIM:203500]
56018 Q93099 (HGD) D E 291 rs754428438 Disease: Alkaptonuria (AKU) [MIM:203500]
56019 Q93099 (HGD) V G 300 rs120074170 Disease: Alkaptonuria (AKU) [MIM:203500]
56020 Q93099 (HGD) R P 321 - Disease: Alkaptonuria (AKU) [MIM:203500]
56021 Q93099 (HGD) F C 329 - Disease: Alkaptonuria (AKU) [MIM:203500]
56022 Q93099 (HGD) R S 330 rs120074171 Disease: Alkaptonuria (AKU) [MIM:203500]
56023 Q93099 (HGD) N D 337 - Disease: Alkaptonuria (AKU) [MIM:203500]
56024 Q93099 (HGD) P L 359 rs764037565 Disease: Alkaptonuria (AKU) [MIM:203500]
56025 Q93099 (HGD) G A 360 - Disease: Alkaptonuria (AKU) [MIM:203500]
56026 Q93099 (HGD) G R 360 rs368717991 Disease: Alkaptonuria (AKU) [MIM:203500]
56027 Q93099 (HGD) G R 361 rs765219004 Disease: Alkaptonuria (AKU) [MIM:203500]
56028 Q93099 (HGD) G E 362 - Disease: Alkaptonuria (AKU) [MIM:203500]
56029 Q93099 (HGD) M V 368 rs120074173 Disease: Alkaptonuria (AKU) [MIM:203500]
56030 Q93099 (HGD) T N 369 rs765912447 Disease: Alkaptonuria (AKU) [MIM:203500]
56031 Q93099 (HGD) H R 371 rs120074172 Disease: Alkaptonuria (AKU) [MIM:203500]
56032 Q93099 (HGD) P L 373 rs138558042 Disease: Alkaptonuria (AKU) [MIM:203500]
56033 Q93099 (HGD) D H 374 rs981454067 Disease: Alkaptonuria (AKU) [MIM:203500]
56034 Q93099 (HGD) E Q 401 rs767159114 Disease: Alkaptonuria (AKU) [MIM:203500]
56035 Q93100 (PHKB) A P 118 rs121918022 Disease: Glycogen storage disease 9B (GSD9B) [MIM:261750]
56036 Q93100 (PHKB) Q K 657 rs34667348 Benign
56037 Q93100 (PHKB) Y C 770 rs16945474 Benign
56038 Q93100 (PHKB) E V 820 rs9934849 Benign
56039 Q95460 (MR1) H R 39 rs2236410 Benign
56040 Q95460 (MR1) R Q 63 rs3897433 Benign
56041 Q95460 (MR1) A V 77 rs3897434 Benign
56042 Q969E2 (SCAMP4) A T 49 rs45562539 Benign
56043 Q969E3 (UCN3) E K 77 rs12768730 Benign
56044 Q969E3 (UCN3) R G 91 rs10904481 Benign
56045 Q969E4 (TCEAL3) Q E 87 rs12009847 Benign
56046 Q969E8 (TSR2) E G 64 rs786203996 Disease: Diamond- Blackfan anemia 14, with mandibulofac ial dysostosis (DBA14) [MIM:300946]
56047 Q969F0 (FATE1) A V 10 rs3810715 Benign
56048 Q969F0 (FATE1) S R 125 rs141497002 Benign
56049 Q969F2 (NKD2) T K 257 rs35679233 Benign
56050 Q969F8 (KISS1R) L P 102 rs104894703 Disease: Hypogonadotr opic hypogonadism 8 with or without anosmia (HH8) [MIM:614837]
56051 Q969F8 (KISS1R) L S 148 rs28939719 Disease: Hypogonadotr opic hypogonadism 8 with or without anosmia (HH8) [MIM:614837]
56052 Q969F8 (KISS1R) A T 189 rs73507527 Disease: Hypogonadotr opic hypogonadism 8 with or without anosmia (HH8) [MIM:614837]
56053 Q969F8 (KISS1R) A D 194 rs397514699 Disease: Hypogonadotr opic hypogonadism 8 with or without anosmia (HH8) [MIM:614837]
56054 Q969F8 (KISS1R) C R 223 - Disease: Hypogonadotr opic hypogonadism 8 with or without anosmia (HH8) [MIM:614837]
56055 Q969F8 (KISS1R) S L 262 rs745580229 Disease: Hypogonadotr opic hypogonadism 8 with or without anosmia (HH8) [MIM:614837]
56056 Q969F8 (KISS1R) R L 297 rs144670595 Disease: Hypogonadotr opic hypogonadism 8 with or without anosmia (HH8) [MIM:614837]
56057 Q969F8 (KISS1R) L H 364 rs350132 Benign
56058 Q969F8 (KISS1R) R P 386 rs121908499 Disease: Precocious puberty, central 1 (CPPB1) [MIM:176400]
56059 Q969F9 (HPS3) E K 275 rs34388030 Benign
56060 Q969F9 (HPS3) R W 397 rs121908316 Disease: Hermansky- Pudlak syndrome 3 (HPS3) [MIM:614072]
56061 Q969G2 (LHX4) R C 84 rs121912642 Disease: Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700]
56062 Q969G2 (LHX4) L R 190 rs121912643 Disease: Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700]
56063 Q969G2 (LHX4) A P 210 rs121912641 Disease: Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700]
56064 Q969G2 (LHX4) N S 328 rs7536561 Benign
56065 Q969G2 (LHX4) P T 389 rs145433128 Disease: Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700]
56066 Q969G3 (SMARCE1) Y C 73 rs387906857 Disease: Coffin-Siris syndrome 5 (CSS5) [MIM:616938]
56067 Q969G3 (SMARCE1) Y S 73 rs387906857 Disease: Coffin-Siris syndrome 5 (CSS5) [MIM:616938]
56068 Q969G5 (CAVIN3) R P 8 rs2682123 Benign
56069 Q969G5 (CAVIN3) A T 104 rs10839551 Benign
56070 Q969G5 (CAVIN3) L P 158 rs1051992 Benign
56071 Q969G5 (CAVIN3) L F 255 rs12294600 Benign
56072 Q969H0 (FBXW7) E K 115 rs6816935 Benign
56073 Q969H0 (FBXW7) R G 133 rs6842544 Benign
56074 Q969H0 (FBXW7) T R 144 rs7660281 Benign
56075 Q969H0 (FBXW7) S G 668 rs7679116 Benign
56076 Q969H4 (CNKSR1) R W 662 rs17163640 Benign
56077 Q969H8 (MYDGF) G R 12 rs2270090 Benign
56078 Q969H9 (DIRC1) S A 51 rs72902678 Benign
56079 Q969H9 (DIRC1) L S 92 rs58846152 Benign
56080 Q969I6 (SLC38A4) G R 29 rs2429467 Benign
56081 Q969I6 (SLC38A4) T M 366 rs11183610 Benign
56082 Q969J2 (ZKSCAN4) S F 33 rs9986596 Benign
56083 Q969J3 (BORCS5) S C 41 rs3741795 Benign
56084 Q969J3 (BORCS5) D N 191 rs3751262 Benign
56085 Q969J5 (IL22RA2) L P 16 rs28385692 Benign
56086 Q969J5 (IL22RA2) E K 190 rs28362173 Benign
56087 Q969K7 (TMEM54) L F 110 rs10914632 Benign
56088 Q969L2 (MAL2) A T 92 rs2303398 Benign
56089 Q969N2 (PIGT) T P 183 rs587777027 Disease: Multiple congenital anomalies- hypotonia- seizures syndrome 3 (MCAHS3) [MIM:615398]
56090 Q969N2 (PIGT) A T 473 rs36056071 Benign
56091 Q969N4 (TAAR8) S N 153 rs8192626 Benign
56092 Q969N4 (TAAR8) V D 211 rs187426282 Benign
56093 Q969N4 (TAAR8) D A 328 rs8192627 Benign
56094 Q969P5 (FBXO32) N S 56 rs6988591 Benign
56095 Q969P5 (FBXO32) G A 89 rs11786471 Benign
56096 Q969P5 (FBXO32) G R 243 rs771939133 Disease: -
56097 Q969P6 (TOP1MT) V I 256 rs11544484 Benign
56098 Q969P6 (TOP1MT) R W 525 rs2293925 Benign
56099 Q969Q0 (RPL36AL) I V 66 rs3088024 Benign
56100 Q969Q1 (TRIM63) S R 61 - Benign
56101 Q969Q1 (TRIM63) E D 126 rs142601731 Benign
56102 Q969Q1 (TRIM63) K E 237 rs2275950 Benign
56103 Q969Q1 (TRIM63) D N 254 - Benign
56104 Q969Q1 (TRIM63) M I 305 - Benign
56105 Q969Q1 (TRIM63) A D 321 - Benign
56106 Q969Q1 (TRIM63) G R 351 rs202001619 Benign
56107 Q969Q4 (ARL11) S L 22 rs147389782 Benign
56108 Q969Q4 (ARL11) L M 120 rs35712316 Benign
56109 Q969Q4 (ARL11) P L 131 rs147120792 Benign
56110 Q969Q4 (ARL11) C R 148 rs3803185 Benign
56111 Q969Q4 (ARL11) E K 164 rs146850453 Benign
56112 Q969R2 (OSBP2) M V 760 rs34240867 Benign
56113 Q969R5 (L3MBTL2) I V 7 rs3804097 Benign
56114 Q969R5 (L3MBTL2) R W 300 rs2277846 Benign
56115 Q969R5 (L3MBTL2) V A 337 rs34289721 Benign
56116 Q969S2 (NEIL2) T S 70 rs8191611 Benign
56117 Q969S2 (NEIL2) R Q 103 rs8191613 Benign
56118 Q969S2 (NEIL2) R W 103 rs8191612 Benign
56119 Q969S2 (NEIL2) R L 257 rs8191664 Benign
56120 Q969S2 (NEIL2) P T 304 rs8191666 Benign
56121 Q969S8 (HDAC10) V I 429 rs34402301 Benign
56122 Q969S9 (GFM2) N S 64 rs957680 Benign
56123 Q969S9 (GFM2) Y S 92 rs1554042187 Disease: Combined oxidative phosphorylat ion deficiency 39 (COXPD39) [MIM:618397]
56124 Q969S9 (GFM2) R Q 190 rs761283105 Disease: Combined oxidative phosphorylat ion deficiency 39 (COXPD39) [MIM:618397]
56125 Q969S9 (GFM2) S C 300 rs16872235 Benign
56126 Q969S9 (GFM2) P H 425 rs17852780 Benign
56127 Q969S9 (GFM2) E G 594 rs17856872 Benign
56128 Q969S9 (GFM2) E G 735 rs17856871 Benign
56129 Q969S9 (GFM2) R Q 774 rs1048167 Benign
56130 Q969T3 (SNX21) A T 154 rs4638862 Benign
56131 Q969T4 (UBE2E3) W R 201 rs2368192 Benign
56132 Q969T7 (NT5C3B) A V 209 rs1046403 Benign
56133 Q969T7 (NT5C3B) S C 213 rs1046404 Benign
56134 Q969T9 (WBP2) A T 160 rs202022024 Disease: Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639]
56135 Q969U6 (FBXW5) E K 340 rs7850438 Benign
56136 Q969V1 (MCHR2) R K 63 rs147988902 Benign
56137 Q969V1 (MCHR2) R Q 152 rs62434070 Benign
56138 Q969V3 (NCLN) E D 214 rs11671067 Benign
56139 Q969V3 (NCLN) K R 551 rs2288949 Benign
56140 Q969V4 (TEKT1) I V 146 rs34431552 Benign
56141 Q969V4 (TEKT1) R C 254 rs3744395 Benign
56142 Q969V4 (TEKT1) V I 332 rs2271233 Benign
56143 Q969V6 (MRTFA) S G 648 rs878756 Benign
56144 Q969W9 (PMEPA1) E D 128 rs41314918 Benign
56145 Q969X1 (TMBIM1) P L 21 rs2292553 Benign
56146 Q969X6 (UTP4) R H 438 rs8056684 Benign
56147 Q969Y0 (NXPE3) T I 507 rs3796277 Benign
56148 Q969Y2 (GTPBP3) E K 142 - Disease: Combined oxidative phosphorylat ion deficiency 23 (COXPD23) [MIM:616198]
56149 Q969Y2 (GTPBP3) E V 159 rs730880255 Disease: Combined oxidative phosphorylat ion deficiency 23 (COXPD23) [MIM:616198]
56150 Q969Y2 (GTPBP3) A P 162 - Disease: Combined oxidative phosphorylat ion deficiency 23 (COXPD23) [MIM:616198]
56151 Q969Y2 (GTPBP3) A G 222 rs373370177 Disease: Combined oxidative phosphorylat ion deficiency 23 (COXPD23) [MIM:616198]
56152 Q969Y2 (GTPBP3) E K 225 rs778983997 Benign
56153 Q969Y2 (GTPBP3) V A 250 rs3810206 Benign
56154 Q969Y2 (GTPBP3) P H 257 - Disease: Combined oxidative phosphorylat ion deficiency 23 (COXPD23) [MIM:616198]
56155 Q969Y2 (GTPBP3) A P 322 rs372174278 Benign
56156 Q969Y2 (GTPBP3) D H 337 rs886037735 Disease: Combined oxidative phosphorylat ion deficiency 23 (COXPD23) [MIM:616198]
56157 Q969Y2 (GTPBP3) R H 368 rs3745193 Benign
56158 Q969Y2 (GTPBP3) E K 459 rs886037734 Disease: Combined oxidative phosphorylat ion deficiency 23 (COXPD23) [MIM:616198]
56159 Q969Z0 (TBRG4) A S 22 rs2304694 Benign
56160 Q969Z0 (TBRG4) P L 57 rs2304693 Benign
56161 Q969Z3 (MTARC2) A S 3 rs72472370 Benign
56162 Q969Z3 (MTARC2) G S 244 rs3795535 Benign
56163 Q969Z3 (MTARC2) C W 245 rs76664695 Benign
56164 Q969Z4 (RELT) A V 332 rs12362779 Benign
56165 Q96A04 (TSACC) S L 54 rs41265043 Benign
56166 Q96A11 (GAL3ST3) A D 221 rs35285455 Benign
56167 Q96A11 (GAL3ST3) E A 410 rs4565902 Benign
56168 Q96A22 (C11orf52) T R 23 rs7124407 Benign
56169 Q96A26 (FAM162A) A V 50 rs17850692 Benign
56170 Q96A28 (SLAMF9) V M 86 rs34540580 Benign
56171 Q96A28 (SLAMF9) I L 127 rs2789417 Benign
56172 Q96A28 (SLAMF9) D H 164 rs35438196 Benign
56173 Q96A28 (SLAMF9) E K 181 rs34884993 Benign
56174 Q96A29 (SLC35C1) W S 49 rs11538193 Benign
56175 Q96A29 (SLC35C1) R C 147 rs28939087 Disease: Congenital disorder of glycosylatio n 2C (CDG2C) [MIM:266265]
56176 Q96A29 (SLC35C1) I V 240 rs7130656 Benign
56177 Q96A29 (SLC35C1) T R 308 rs28937886 Disease: Congenital disorder of glycosylatio n 2C (CDG2C) [MIM:266265]
56178 Q96A56 (TP53INP1) C R 75 rs11991800 Benign
56179 Q96A57 (TMEM230) R C 108 rs143571424 Benign
56180 Q96A59 (MARVELD3) E K 60 rs4788821 Benign
56181 Q96A70 (AZIN2) A S 288 rs16835244 Benign
56182 Q96A83 (COL26A1) P L 427 rs17471501 Benign
56183 Q96A84 (EMID1) A G 107 rs743920 Benign
56184 Q96A99 (PTX4) G E 2 rs2745103 Benign
56185 Q96A99 (PTX4) R W 92 rs2745101 Benign
56186 Q96A99 (PTX4) R G 220 rs2667673 Benign
56187 Q96A99 (PTX4) R Q 234 rs12445920 Benign
56188 Q96A99 (PTX4) R K 281 rs2745098 Benign
56189 Q96A99 (PTX4) A S 317 rs13332460 Benign
56190 Q96A99 (PTX4) I V 444 rs59554810 Benign
56191 Q96AA3 (RFT1) R C 67 rs118203913 Disease: Congenital disorder of glycosylatio n 1N (CDG1N) [MIM:612015]
56192 Q96AA3 (RFT1) K E 152 rs763862849 Disease: Congenital disorder of glycosylatio n 1N (CDG1N) [MIM:612015]
56193 Q96AA3 (RFT1) A T 185 rs35221142 Benign
56194 Q96AA3 (RFT1) E K 298 rs796053521 Disease: Congenital disorder of glycosylatio n 1N (CDG1N) [MIM:612015]
56195 Q96AA8 (JAKMIP2) V I 106 rs3749736 Benign
56196 Q96AB6 (NTAN1) H N 283 rs1136001 Benign
56197 Q96AB6 (NTAN1) S P 287 rs1135999 Benign
56198 Q96AC6 (KIFC2) G E 67 rs35817880 Benign
56199 Q96AC6 (KIFC2) S F 166 rs12675537 Benign
56200 Q96AD5 (PNPLA2) P L 195 rs121918259 Disease: Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]
56201 Q96AD5 (PNPLA2) L F 219 rs140612115 Benign
56202 Q96AD5 (PNPLA2) N K 252 rs140201358 Benign
56203 Q96AD5 (PNPLA2) L P 481 rs1138693 Benign
56204 Q96AE4 (FUBP1) I K 399 rs12748509 Benign
56205 Q96AE7 (TTC17) I L 145 rs12099204 Benign
56206 Q96AE7 (TTC17) N H 270 rs16937479 Benign
56207 Q96AG3 (SLC25A46) G D 249 rs200725073 Disease: Neuropathy, hereditary motor and sensory, 6B (HMSN6B) [MIM:616505]
56208 Q96AG3 (SLC25A46) P L 333 rs1057518750 Disease: Neuropathy, hereditary motor and sensory, 6B (HMSN6B) [MIM:616505]
56209 Q96AG3 (SLC25A46) E D 335 rs1057518748 Disease: Neuropathy, hereditary motor and sensory, 6B (HMSN6B) [MIM:616505]
56210 Q96AG3 (SLC25A46) R C 340 rs746681765 Disease: Neuropathy, hereditary motor and sensory, 6B (HMSN6B) [MIM:616505]
56211 Q96AH0 (NABP1) T S 154 rs12612256 Benign
56212 Q96AJ1 (CLUAP1) A S 68 rs34115694 Benign
56213 Q96AJ1 (CLUAP1) R W 401 rs9790 Benign
56214 Q96AM1 (MRGPRF) K R 16 rs11544721 Benign
56215 Q96AN5 (TMEM143) D N 143 rs34488893 Benign
56216 Q96AP0 (ACD) T M 215 rs72547495 Benign
56217 Q96AP0 (ACD) P T 405 rs201441120 Disease: Dyskeratosis congenita, autosomal recessive, 7 (DKCB7) [MIM:616553]
56218 Q96AP0 (ACD) V A 432 rs6979 Benign
56219 Q96AP4 (ZUP1) N D 379 rs4946188 Benign
56220 Q96AP7 (ESAM) R C 273 rs12792040 Benign
56221 Q96AQ1 (CCDC74A) G R 302 rs13660 Benign
56222 Q96AQ2 (TMEM125) A D 112 rs35880191 Benign
56223 Q96AQ6 (PBXIP1) G D 356 rs2061690 Benign
56224 Q96AQ6 (PBXIP1) G D 357 rs2061690 Benign
56225 Q96AQ8 (MCUR1) S G 108 rs1204145 Benign
56226 Q96AQ8 (MCUR1) T A 216 rs3180196 Benign
56227 Q96AQ9 (FAM131C) K E 48 rs2863458 Benign
56228 Q96AQ9 (FAM131C) R Q 107 rs71510977 Benign
56229 Q96AQ9 (FAM131C) P R 123 rs11576236 Benign
56230 Q96AQ9 (FAM131C) S I 215 rs1832151 Benign
56231 Q96AQ9 (FAM131C) E D 226 rs17853749 Benign
56232 Q96AT1 (KIAA1143) I M 139 rs3853404 Benign
56233 Q96AV8 (E2F7) F L 72 rs310791 Benign
56234 Q96AV8 (E2F7) M V 626 rs3829295 Benign
56235 Q96AV8 (E2F7) H Q 854 rs310831 Benign
56236 Q96AX1 (VPS33A) I L 256 rs34996966 Benign
56237 Q96AX1 (VPS33A) R W 498 rs767748011 Disease: Mucopolysacc haridosis- plus syndrome (MPSPS) [MIM:617303]
56238 Q96AX2 (RAB37) A P 188 rs34215331 Benign
56239 Q96AX9 (MIB2) F L 15 rs7418389 Benign
56240 Q96AX9 (MIB2) M T 45 rs12755088 Benign
56241 Q96AY2 (EME1) K N 5 rs35248609 Benign
56242 Q96AY2 (EME1) I V 49 rs9896405 Benign
56243 Q96AY2 (EME1) F L 63 rs17714854 Benign
56244 Q96AY2 (EME1) E D 69 rs3760413 Benign
56245 Q96AY2 (EME1) V I 347 rs7222520 Benign
56246 Q96AY2 (EME1) I T 350 rs12450550 Benign
56247 Q96AY3 (FKBP10) E K 113 rs397514674 Disease: Bruck syndrome 1 (BRKS1) [MIM:259450]
56248 Q96AY3 (FKBP10) R Q 115 rs387906960 Disease: Bruck syndrome 1 (BRKS1) [MIM:259450]
56249 Q96AY3 (FKBP10) P L 136 rs782653042 Disease: Bruck syndrome 1 (BRKS1) [MIM:259450]
56250 Q96AY3 (FKBP10) K R 197 rs34764749 Benign
56251 Q96AZ1 (EEF1AKMT3) S L 28 rs34913183 Benign
56252 Q96B01 (RAD51AP1) K Q 68 rs34810644 Benign
56253 Q96B21 (TMEM45B) T I 59 rs558813 Benign
56254 Q96B26 (EXOSC8) A V 2 rs606231285 Disease: Pontocerebel lar hypoplasia 1C (PCH1C) [MIM:616081]
56255 Q96B26 (EXOSC8) S T 272 rs36027220 Disease: Pontocerebel lar hypoplasia 1C (PCH1C) [MIM:616081]
56256 Q96B33 (CLDN23) V M 210 rs12548737 Benign
56257 Q96B36 (AKT1S1) A P 47 rs17850191 Benign
56258 Q96B70 (LENG9) H R 153 rs10406453 Benign
56259 Q96B70 (LENG9) R P 499 rs10423424 Benign
56260 Q96B86 (RGMA) D E 415 rs4238485 Benign
56261 Q96B86 (RGMA) A V 431 rs4778078 Benign
56262 Q96B96 (TMEM159) F L 97 rs35345508 Benign
56263 Q96B96 (TMEM159) G S 107 rs1046480 Benign
56264 Q96B96 (TMEM159) E D 154 rs1063087 Benign
56265 Q96B97 (SH3KBP1) P L 382 rs1310665369 Benign
56266 Q96BA8 (CREB3L1) A T 411 rs35652107 Benign
56267 Q96BD0 (SLCO4A1) R Q 70 rs34419428 Benign
56268 Q96BD0 (SLCO4A1) V I 78 rs1047099 Benign
56269 Q96BD5 (PHF21A) R H 347 rs3736508 Benign
56270 Q96BD8 (SKA1) V I 91 rs6507992 Benign
56271 Q96BF3 (TMIGD2) W L 168 rs58237134 Benign
56272 Q96BF3 (TMIGD2) A P 202 rs28477168 Benign
56273 Q96BH3 (ELSPBP1) C W 100 rs3745751 Benign
56274 Q96BH3 (ELSPBP1) D N 170 rs35362679 Benign
56275 Q96BH3 (ELSPBP1) E K 199 rs2303690 Benign
56276 Q96BH3 (ELSPBP1) D N 215 rs6509358 Benign
56277 Q96BI1 (SLC22A18) A T 6 rs1048046 Benign
56278 Q96BI1 (SLC22A18) R Q 12 rs1048047 Benign
56279 Q96BI1 (SLC22A18) S F 233 rs121909071 Disease: Lung cancer (LNCR) [MIM:211980]
56280 Q96BI1 (SLC22A18) R Q 309 rs141165353 Benign
56281 Q96BI1 (SLC22A18) W C 324 rs1129782 Benign
56282 Q96BJ8 (ELMO3) K Q 13 rs12923138 Benign
56283 Q96BJ8 (ELMO3) N D 95 rs8058861 Benign
56284 Q96BJ8 (ELMO3) R C 316 rs33948247 Benign
56285 Q96BK5 (PINX1) Q H 206 rs35530857 Benign
56286 Q96BK5 (PINX1) R I 215 rs17855458 Benign
56287 Q96BK5 (PINX1) T A 220 rs17711777 Benign
56288 Q96BK5 (PINX1) S C 254 rs1078543 Benign
56289 Q96BK5 (PINX1) E A 315 rs34656824 Benign
56290 Q96BM0 (IFI27L1) G S 35 rs57677258 Benign
56291 Q96BN2 (TADA1) R Q 198 rs2272792 Benign
56292 Q96BN6 (FAM149B1) G R 571 rs12573841 Benign
56293 Q96BN8 (OTULIN) M L 155 rs11953822 Benign
56294 Q96BN8 (OTULIN) S N 227 rs9312870 Benign
56295 Q96BN8 (OTULIN) Y C 244 rs886037887 Disease: Autoinflamma tion, panniculitis , and dermatosis syndrome (AIPDS) [MIM:617099]
56296 Q96BN8 (OTULIN) L P 272 rs886037885 Disease: Autoinflamma tion, panniculitis , and dermatosis syndrome (AIPDS) [MIM:617099]
56297 Q96BN8 (OTULIN) N S 311 rs9312870 Benign
56298 Q96BQ1 (FAM3D) P S 60 rs17059569 Benign
56299 Q96BQ1 (FAM3D) A S 118 rs33966924 Benign
56300 Q96BQ5 (CCDC127) R H 60 rs11557427 Benign
56301 Q96BR1 (SGK3) L P 355 rs750700898 Benign
56302 Q96BR5 (COA7) D G 6 rs780572767 Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 3 (SCAN3) [MIM:618387]
56303 Q96BR5 (COA7) Y C 137 rs961876891 Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 3 (SCAN3) [MIM:618387]
56304 Q96BR5 (COA7) K R 219 rs443751 Benign
56305 Q96BR6 (ZNF669) E D 76 rs4925692 Benign
56306 Q96BR6 (ZNF669) G S 460 rs7533935 Benign
56307 Q96BR9 (ZBTB8A) G A 418 rs704886 Benign
56308 Q96BT3 (CENPT) P L 115 rs12102580 Benign
56309 Q96BV0 (ZNF775) T A 428 rs13225910 Benign
56310 Q96BW5 (PTER) E G 97 rs36023740 Benign
56311 Q96BW9 (TAMM41) N S 116 rs7641243 Benign
56312 Q96BW9 (TAMM41) I V 179 rs11551661 Benign
56313 Q96BY7 (ATG2B) N D 1124 rs9323945 Benign
56314 Q96BY7 (ATG2B) Q E 1383 rs3759601 Benign
56315 Q96BY7 (ATG2B) I T 1567 rs2289622 Benign
56316 Q96BY9 (SARAF) P T 78 rs11538828 Benign
56317 Q96BZ4 (PLD4) C R 16 rs894037 Benign
56318 Q96BZ4 (PLD4) E Q 27 rs2841280 Benign
56319 Q96BZ4 (PLD4) V M 135 rs3803295 Benign
56320 Q96BZ8 (LENG1) E K 97 rs35089861 Benign
56321 Q96BZ9 (TBC1D20) N S 79 rs36088178 Benign
56322 Q96C00 (ZBTB9) A G 274 rs9469425 Benign
56323 Q96C03 (MIEF2) G E 324 rs12603700 Benign
56324 Q96C03 (MIEF2) R Q 354 rs3751981 Benign
56325 Q96C10 (DHX58) T A 76 rs34891485 Benign
56326 Q96C10 (DHX58) R Q 95 rs35118457 Benign
56327 Q96C10 (DHX58) Q R 425 rs2074158 Benign
56328 Q96C10 (DHX58) R Q 523 rs2074160 Benign
56329 Q96C11 (FGGY) N K 43 rs835409 Benign
56330 Q96C11 (FGGY) L V 134 rs11207463 Benign
56331 Q96C11 (FGGY) L V 246 rs11207463 Benign
56332 Q96C12 (ARMC5) F Y 14 rs151069962 Benign
56333 Q96C12 (ARMC5) G A 56 rs780112907 Benign
56334 Q96C12 (ARMC5) S P 115 rs199693319 Benign
56335 Q96C12 (ARMC5) C R 139 - Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56336 Q96C12 (ARMC5) L F 156 rs114930262 Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56337 Q96C12 (ARMC5) I V 170 rs35923277 Benign
56338 Q96C12 (ARMC5) R Q 315 rs1415974570 Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56339 Q96C12 (ARMC5) R W 315 - Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56340 Q96C12 (ARMC5) L P 331 - Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56341 Q96C12 (ARMC5) R L 362 - Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56342 Q96C12 (ARMC5) R W 362 rs1385397608 Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56343 Q96C12 (ARMC5) L P 365 rs587777663 Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56344 Q96C12 (ARMC5) P L 483 rs552657393 Benign
56345 Q96C12 (ARMC5) R H 502 rs200054015 Benign
56346 Q96C12 (ARMC5) P L 507 rs142376949 Benign
56347 Q96C12 (ARMC5) R W 593 rs587777662 Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56348 Q96C12 (ARMC5) C R 657 - Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56349 Q96C12 (ARMC5) C W 657 - Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56350 Q96C12 (ARMC5) I S 664 - Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56351 Q96C12 (ARMC5) P R 731 rs200951744 Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56352 Q96C12 (ARMC5) Y S 736 - Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56353 Q96C12 (ARMC5) L P 754 - Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56354 Q96C12 (ARMC5) G A 798 rs115611533 Benign
56355 Q96C12 (ARMC5) H P 808 - Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56356 Q96C12 (ARMC5) R W 898 rs587777659 Disease: ACTH- independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]
56357 Q96C23 (GALM) G R 142 - Disease: -
56358 Q96C23 (GALM) N Y 190 rs6741892 Benign
56359 Q96C23 (GALM) R G 267 - Disease: -
56360 Q96C24 (SYTL4) I V 420 rs2022039 Benign
56361 Q96C28 (ZNF707) P H 96 rs6987308 Benign
56362 Q96C34 (RUNDC1) V I 4 rs17853899 Benign
56363 Q96C34 (RUNDC1) W R 160 rs1708875 Benign
56364 Q96C34 (RUNDC1) L M 397 rs17857183 Benign
56365 Q96C34 (RUNDC1) E K 566 rs3744241 Benign
56366 Q96C36 (PYCR2) R C 119 rs372781135 Disease: Leukodystrop hy, hypomyelinat ing, 10 (HLD10) [MIM:616420]
56367 Q96C36 (PYCR2) R C 251 rs876657403 Disease: Leukodystrop hy, hypomyelinat ing, 10 (HLD10) [MIM:616420]
56368 Q96C45 (ULK4) V A 18 rs34538622 Benign
56369 Q96C45 (ULK4) K R 39 rs2272007 Benign
56370 Q96C45 (ULK4) N K 139 rs35833603 Benign
56371 Q96C45 (ULK4) S N 223 rs55840267 Benign
56372 Q96C45 (ULK4) I V 224 rs1716975 Benign
56373 Q96C45 (ULK4) S G 348 rs35263917 Benign
56374 Q96C45 (ULK4) T M 415 rs371185820 Benign
56375 Q96C45 (ULK4) S P 417 rs75907560 Benign
56376 Q96C45 (ULK4) A T 542 rs1052501 Benign
56377 Q96C45 (ULK4) K R 569 rs3774372 Benign
56378 Q96C45 (ULK4) L S 603 rs17063572 Benign
56379 Q96C45 (ULK4) S A 640 rs4973986 Benign
56380 Q96C45 (ULK4) A T 715 rs17215589 Benign
56381 Q96C45 (ULK4) S N 1260 rs12488691 Benign
56382 Q96C45 (ULK4) A V 1261 rs6769117 Benign
56383 Q96C57 (CUSTOS) G R 44 rs11537857 Benign
56384 Q96C74 (ROPN1L) N K 103 rs35573613 Benign
56385 Q96C74 (ROPN1L) A V 113 rs2303986 Benign
56386 Q96C74 (ROPN1L) P R 156 rs17851209 Benign
56387 Q96C86 (DCPS) G E 73 rs11557735 Benign
56388 Q96C86 (DCPS) T M 316 rs137941190 Disease: Al-Raqad syndrome (ARS) [MIM:616459]
56389 Q96C92 (ENTR1) L V 157 rs7047681 Benign
56390 Q96C92 (ENTR1) E G 176 rs17851182 Benign
56391 Q96C92 (ENTR1) R Q 304 rs3812577 Benign
56392 Q96C92 (ENTR1) V M 379 rs1131992 Benign
56393 Q96C92 (ENTR1) V I 428 rs17855450 Benign
56394 Q96CA5 (BIRC7) E Q 223 rs1077019 Benign
56395 Q96CB5 (C8orf44) Q R 131 rs1909534 Benign
56396 Q96CB5 (C8orf44) F S 148 rs1057463 Benign
56397 Q96CB8 (INTS12) T A 323 rs34567094 Benign
56398 Q96CB9 (NSUN4) T A 51 rs3737744 Benign
56399 Q96CB9 (NSUN4) N K 128 rs17102152 Benign
56400 Q96CB9 (NSUN4) I T 325 rs13374337 Benign
56401 Q96CB9 (NSUN4) I V 365 rs9865 Benign
56402 Q96CC6 (RHBDF1) R W 265 rs3213511 Benign
56403 Q96CD2 (PPCDC) I M 78 rs2304899 Benign
56404 Q96CF2 (CHMP4C) A T 232 rs35094336 Benign
56405 Q96CG3 (TIFA) T M 19 rs6834237 Benign
56406 Q96CG8 (CTHRC1) Q P 44 rs387907029 Benign
56407 Q96CK0 (ZNF653) K R 54 rs17851437 Benign
56408 Q96CK0 (ZNF653) A T 329 rs35556595 Benign
56409 Q96CM3 (RPUSD4) Q R 44 rs2282580 Benign
56410 Q96CM3 (RPUSD4) D G 58 rs35468281 Benign
56411 Q96CM3 (RPUSD4) E D 155 rs34809853 Benign
56412 Q96CM3 (RPUSD4) A V 209 rs35157957 Benign
56413 Q96CM8 (ACSF2) G V 75 rs17856448 Benign
56414 Q96CM8 (ACSF2) V M 316 rs3744523 Benign
56415 Q96CN9 (GCC1) R W 86 rs17151044 Benign
56416 Q96CN9 (GCC1) C W 87 rs2285348 Benign
56417 Q96CN9 (GCC1) A V 122 rs35322201 Benign
56418 Q96CN9 (GCC1) Q R 262 rs35390108 Benign
56419 Q96CN9 (GCC1) A T 274 rs34887879 Benign
56420 Q96CN9 (GCC1) R C 618 rs34883586 Benign
56421 Q96CT7 (CCDC124) E Q 138 rs8104153 Benign
56422 Q96CU9 (FOXRED1) V I 145 rs34542988 Benign
56423 Q96CU9 (FOXRED1) A P 343 rs17855445 Benign
56424 Q96CU9 (FOXRED1) R W 352 rs387907087 Disease: Mitochondria l complex I deficiency, nuclear type 19 (MC1DN19) [MIM:618241]
56425 Q96CU9 (FOXRED1) H R 380 rs7116126 Benign
56426 Q96CU9 (FOXRED1) N S 430 rs267606830 Disease: Mitochondria l complex I deficiency, nuclear type 19 (MC1DN19) [MIM:618241]
56427 Q96CV9 (OPTN) H D 26 rs200710076 Disease: Glaucoma 1, open angle, E (GLC1E) [MIM:137760]
56428 Q96CV9 (OPTN) E K 50 rs28939688 Disease: Glaucoma 1, open angle, E (GLC1E) [MIM:137760]
56429 Q96CV9 (OPTN) M K 98 rs11258194 Benign
56430 Q96CV9 (OPTN) E D 103 rs1346865805 Disease: Glaucoma 1, open angle, E (GLC1E) [MIM:137760]
56431 Q96CV9 (OPTN) P S 201 - Benign
56432 Q96CV9 (OPTN) S R 216 rs750088207 Benign
56433 Q96CV9 (OPTN) V F 295 rs761558354 Disease: Amyotrophic lateral sclerosis 12 (ALS12) [MIM:613435]
56434 Q96CV9 (OPTN) S P 308 rs7068431 Benign
56435 Q96CV9 (OPTN) E K 322 rs523747 Benign
56436 Q96CV9 (OPTN) T P 357 - Benign
56437 Q96CV9 (OPTN) E G 478 rs267606929 Disease: Amyotrophic lateral sclerosis 12 (ALS12) [MIM:613435]
56438 Q96CV9 (OPTN) H R 486 rs373425395 Disease: Glaucoma 1, open angle, E (GLC1E) [MIM:137760]
56439 Q96CW1 (AP2M1) R W 170 - Disease: Intellectual developmenta l disorder 60 with seizures (MRD60) [MIM:618587]
56440 Q96CW5 (TUBGCP3) T S 208 rs1044287 Benign
56441 Q96CW6 (SLC7A6OS) V M 24 rs35800405 Benign
56442 Q96CW6 (SLC7A6OS) G D 45 rs3803650 Benign
56443 Q96CW6 (SLC7A6OS) S A 116 rs8063446 Benign
56444 Q96CW6 (SLC7A6OS) Y C 220 rs11548855 Benign
56445 Q96CW9 (NTNG2) C Y 81 - Disease: Neurodevelop mental disorder with behavioral abnormalitie s, absent speech, and hypotonia (NEDBASH) [MIM:618718]
56446 Q96CW9 (NTNG2) W G 107 - Disease: Neurodevelop mental disorder with behavioral abnormalitie s, absent speech, and hypotonia (NEDBASH) [MIM:618718]
56447 Q96CW9 (NTNG2) M T 149 - Disease: Neurodevelop mental disorder with behavioral abnormalitie s, absent speech, and hypotonia (NEDBASH) [MIM:618718]
56448 Q96CW9 (NTNG2) S L 200 - Disease: Neurodevelop mental disorder with behavioral abnormalitie s, absent speech, and hypotonia (NEDBASH) [MIM:618718]
56449 Q96CW9 (NTNG2) T A 346 rs4962173 Benign
56450 Q96CW9 (NTNG2) C W 355 - Disease: Neurodevelop mental disorder with behavioral abnormalitie s, absent speech, and hypotonia (NEDBASH) [MIM:618718]
56451 Q96CW9 (NTNG2) S C 359 - Disease: Neurodevelop mental disorder with behavioral abnormalitie s, absent speech, and hypotonia (NEDBASH) [MIM:618718]
56452 Q96CW9 (NTNG2) C Y 456 - Disease: Neurodevelop mental disorder with behavioral abnormalitie s, absent speech, and hypotonia (NEDBASH) [MIM:618718]
56453 Q96CX3 (ZNF501) M V 17 rs4682752 Benign
56454 Q96CX3 (ZNF501) I V 147 rs58211979 Benign
56455 Q96D03 (DDIT4L) S F 161 rs11553154 Benign
56456 Q96D09 (GPRASP2) R S 173 rs6616421 Benign
56457 Q96D09 (GPRASP2) A N 573 - Disease: Deafness, X-linked, 7 (DFNX7) [MIM:301018]
56458 Q96D15 (RCN3) R W 250 rs34654230 Benign
56459 Q96D31 (ORAI1) R W 91 rs118203993 Disease: Immunodefici ency 9 (IMD9) [MIM:612782]
56460 Q96D31 (ORAI1) G S 98 rs786204796 Disease: Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883]
56461 Q96D31 (ORAI1) V M 107 - Disease: Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883]
56462 Q96D31 (ORAI1) T M 184 - Disease: Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883]
56463 Q96D31 (ORAI1) S G 218 rs3741596 Benign
56464 Q96D31 (ORAI1) P L 245 rs587777528 Disease: Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883]
56465 Q96D42 (HAVCR1) S L 51 rs2270922 Benign
56466 Q96D46 (NMD3) E K 6 rs12490341 Benign
56467 Q96D53 (COQ8B) R C 78 rs11538384 Benign
56468 Q96D53 (COQ8B) L R 98 - Disease: Nephrotic syndrome 9 (NPHS9) [MIM:615573]
56469 Q96D53 (COQ8B) H R 174 rs3865452 Benign
56470 Q96D53 (COQ8B) R W 178 rs398122978 Disease: Nephrotic syndrome 9 (NPHS9) [MIM:615573]
56471 Q96D53 (COQ8B) D G 286 rs398122979 Disease: Nephrotic syndrome 9 (NPHS9) [MIM:615573]
56472 Q96D53 (COQ8B) P L 310 - Disease: Nephrotic syndrome 9 (NPHS9) [MIM:615573]
56473 Q96D53 (COQ8B) T M 318 rs55899516 Benign
56474 Q96D53 (COQ8B) R W 320 rs369573693 Disease: Nephrotic syndrome 9 (NPHS9) [MIM:615573]
56475 Q96D53 (COQ8B) R W 343 rs398122981 Disease: Nephrotic syndrome 9 (NPHS9) [MIM:615573]
56476 Q96D53 (COQ8B) T R 352 rs36012476 Benign
56477 Q96D53 (COQ8B) T M 462 rs56083906 Benign
56478 Q96D53 (COQ8B) R Q 477 rs1057519347 Disease: Nephrotic syndrome 9 (NPHS9) [MIM:615573]
56479 Q96D53 (COQ8B) A E 498 - Disease: Nephrotic syndrome 9 (NPHS9) [MIM:615573]
56480 Q96D59 (RNF183) A T 82 rs3750533 Benign
56481 Q96D59 (RNF183) Q R 114 rs3750534 Benign
56482 Q96D71 (REPS1) V L 78 rs1554292444 Disease: Neurodegener ation with brain iron accumulation 7 (NBIA7) [MIM:617916]
56483 Q96D71 (REPS1) A E 113 rs201191394 Disease: Neurodegener ation with brain iron accumulation 7 (NBIA7) [MIM:617916]
56484 Q96DA0 (ZG16B) M V 133 rs35533993 Benign
56485 Q96DA2 (RAB39B) T K 168 rs587777874 Disease: Waisman syndrome (WSMN) [MIM:311510]
56486 Q96DA2 (RAB39B) G R 192 rs864309527 Disease: Waisman syndrome (WSMN) [MIM:311510]
56487 Q96DB5 (RMDN1) K N 52 rs6980476 Benign
56488 Q96DB9 (FXYD5) S A 35 rs1688005 Benign
56489 Q96DB9 (FXYD5) R H 176 rs12110 Benign
56490 Q96DC7 (TMCO6) T S 299 rs17208187 Benign
56491 Q96DC8 (ECHDC3) A T 69 rs4750090 Benign
56492 Q96DC8 (ECHDC3) A T 151 rs7910140 Benign
56493 Q96DC8 (ECHDC3) D N 162 rs35986488 Benign
56494 Q96DD0 (LRRC39) I L 121 rs34920283 Benign
56495 Q96DD7 (SHISA4) I M 159 rs2250377 Benign
56496 Q96DF8 (ESS2) A V 31 rs113904207 Benign
56497 Q96DF8 (ESS2) V M 336 rs17743887 Benign
56498 Q96DF8 (ESS2) A V 423 rs712965 Benign
56499 Q96DG6 (CMBL) Y C 155 rs35489000 Benign
56500 Q96DL1 (NXPE2) V A 103 rs11215158 Benign
56501 Q96DN0 (ERP27) F L 52 rs35030722 Benign
56502 Q96DN2 (VWCE) P R 842 rs3750982 Benign
56503 Q96DN5 (TBC1D31) R H 414 rs16897967 Benign
56504 Q96DN5 (TBC1D31) V F 709 rs16898023 Benign
56505 Q96DN5 (TBC1D31) A T 1065 rs34994118 Benign
56506 Q96DP5 (MTFMT) V A 5 rs2946655 Benign
56507 Q96DP5 (MTFMT) S L 125 rs397514614 Disease: Combined oxidative phosphorylat ion deficiency 15 (COXPD15) [MIM:614947]
56508 Q96DP5 (MTFMT) S L 209 rs201431517 Disease: Mitochondria l complex I deficiency, nuclear type 27 (MC1DN27) [MIM:618248]
56509 Q96DR5 (BPIFA2) G R 43 rs6059139 Benign
56510 Q96DR5 (BPIFA2) K E 113 rs17304572 Benign
56511 Q96DR5 (BPIFA2) R C 221 rs6120140 Benign
56512 Q96DR7 (ARHGEF26) V L 29 rs12493885 Benign
56513 Q96DR7 (ARHGEF26) L P 60 rs12497267 Benign
56514 Q96DR7 (ARHGEF26) F S 203 rs13096373 Benign
56515 Q96DS6 (MS4A6E) I V 6 rs2304935 Benign
56516 Q96DS6 (MS4A6E) T A 10 rs2304934 Benign
56517 Q96DS6 (MS4A6E) V F 47 rs2304933 Benign
56518 Q96DT5 (DNAH11) E L 34 rs398123604 Benign
56519 Q96DT5 (DNAH11) E V 34 rs2285944 Benign
56520 Q96DT5 (DNAH11) E V 117 rs72655968 Disease: Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884]
56521 Q96DT5 (DNAH11) Q R 639 rs12670130 Benign
56522 Q96DT5 (DNAH11) S C 654 rs62441683 Benign
56523 Q96DT5 (DNAH11) V A 1023 rs10269582 Benign
56524 Q96DT5 (DNAH11) T A 1038 rs10224537 Benign
56525 Q96DT5 (DNAH11) M V 1316 rs17144788 Benign
56526 Q96DT5 (DNAH11) D G 1635 rs17144835 Benign
56527 Q96DT5 (DNAH11) L P 2383 rs72657353 Disease: Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884]
56528 Q96DT5 (DNAH11) Y H 2586 rs2003417 Benign
56529 Q96DT5 (DNAH11) N S 2634 rs9639393 Benign
56530 Q96DT5 (DNAH11) I V 2675 rs72657364 Benign
56531 Q96DT5 (DNAH11) A T 3467 rs2214326 Benign
56532 Q96DT5 (DNAH11) V L 3708 rs4722064 Benign
56533 Q96DT5 (DNAH11) S P 3758 rs17145720 Benign
56534 Q96DT5 (DNAH11) M V 4165 rs6461613 Benign
56535 Q96DT5 (DNAH11) T I 4170 rs12537531 Benign
56536 Q96DT5 (DNAH11) L S 4327 rs72658826 Disease: Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884]
56537 Q96DT7 (ZBTB10) P T 50 rs591989 Benign
56538 Q96DT7 (ZBTB10) M I 174 rs593747 Benign
56539 Q96DU9 (PABPC5) N S 314 rs7050077 Benign
56540 Q96DV4 (MRPL38) R W 99 rs34136221 Benign
56541 Q96DV4 (MRPL38) D H 371 rs9191 Benign
56542 Q96DW6 (SLC25A38) R G 66 rs34127778 Benign
56543 Q96DW6 (SLC25A38) G E 130 rs762562272 Disease: Anemia, sideroblasti c, 2, pyridoxine- refractory (SIDBA2) [MIM:205950]
56544 Q96DW6 (SLC25A38) R H 134 - Disease: Anemia, sideroblasti c, 2, pyridoxine- refractory (SIDBA2) [MIM:205950]
56545 Q96DW6 (SLC25A38) R P 187 rs121918331 Disease: Anemia, sideroblasti c, 2, pyridoxine- refractory (SIDBA2) [MIM:205950]
56546 Q96DW6 (SLC25A38) D H 209 rs146864395 Disease: Anemia, sideroblasti c, 2, pyridoxine- refractory (SIDBA2) [MIM:205950]
56547 Q96DX4 (RSPRY1) G C 41 rs864309652 Disease: Spondyloepim etaphyseal dysplasia, Faden- Alkuraya type (SEMDFA) [MIM:616723]
56548 Q96DX7 (TRIM44) S Y 64 rs377117775 Benign
56549 Q96DX7 (TRIM44) G R 155 rs886039241 Disease: Aniridia 3 (AN3) [MIM:617142]
56550 Q96DX8 (RTP4) T I 79 rs1047584 Benign
56551 Q96DX8 (RTP4) S N 168 rs35224605 Benign
56552 Q96DY2 (IQCD) L V 136 rs7966313 Benign
56553 Q96DZ1 (ERLEC1) V L 318 rs2287345 Benign
56554 Q96DZ5 (CLIP3) D V 175 rs17851002 Benign
56555 Q96DZ7 (TM4SF19) Q P 8 rs6785339 Benign
56556 Q96DZ7 (TM4SF19) V I 162 rs35643777 Benign
56557 Q96E11 (MRRF) M V 216 rs2297483 Benign
56558 Q96E22 (NUS1) N Y 175 rs28362518 Benign
56559 Q96E22 (NUS1) D E 179 rs28362519 Benign
56560 Q96E22 (NUS1) K R 216 rs1052239 Benign
56561 Q96E22 (NUS1) T K 219 rs1132147 Benign
56562 Q96E22 (NUS1) R H 290 rs886037858 Disease: Congenital disorder of glycosylatio n 1AA (CDG1AA) [MIM:617082]
56563 Q96E29 (MTERF3) E G 396 rs7461970 Benign
56564 Q96E40 (SPACA9) V I 104 rs2231406 Benign
56565 Q96E52 (OMA1) N K 67 rs34466938 Benign
56566 Q96E52 (OMA1) H Y 69 rs75220198 Benign
56567 Q96E52 (OMA1) P L 117 rs17117720 Benign
56568 Q96E52 (OMA1) F C 211 rs17117699 Benign
56569 Q96E52 (OMA1) E G 272 rs139938730 Benign
56570 Q96E52 (OMA1) I L 329 rs17117678 Benign
56571 Q96E52 (OMA1) D Y 365 rs77980955 Benign
56572 Q96E93 (KLRG1) W R 58 rs1805749 Benign
56573 Q96EA4 (SPDL1) Y H 508 rs3797713 Benign
56574 Q96EA4 (SPDL1) L S 586 rs3777084 Benign
56575 Q96EB1 (ELP4) I L 300 rs34804357 Benign
56576 Q96EB6 (SIRT1) D E 3 rs35671182 Benign
56577 Q96EB6 (SIRT1) V D 484 rs1063111 Benign
56578 Q96EC8 (YIPF6) F L 202 rs17850921 Benign
56579 Q96ED9 (HOOK2) G R 10 rs2305376 Benign
56580 Q96ED9 (HOOK2) H Q 488 rs897804 Benign
56581 Q96EE3 (SEH1L) T N 342 rs6505776 Benign
56582 Q96EG1 (ARSG) A V 11 rs8074806 Benign
56583 Q96EG1 (ARSG) D Y 45 - Disease: Usher syndrome 4 (USH4) [MIM:618144]
56584 Q96EG1 (ARSG) T S 236 rs1558876 Benign
56585 Q96EG1 (ARSG) W R 274 rs1558878 Benign
56586 Q96EG1 (ARSG) R G 326 rs144503106 Benign
56587 Q96EG1 (ARSG) R H 385 rs9972951 Benign
56588 Q96EG1 (ARSG) R W 398 rs11657051 Benign
56589 Q96EG1 (ARSG) T M 444 rs62000424 Benign
56590 Q96EG1 (ARSG) E K 481 rs370852507 Benign
56591 Q96EG1 (ARSG) I T 493 rs61999318 Benign
56592 Q96EG3 (ZNF837) Q R 153 rs7256940 Benign
56593 Q96EG3 (ZNF837) A T 242 rs7255596 Benign
56594 Q96EK2 (PHF21B) G S 127 rs8135982 Benign
56595 Q96EK5 (KIFBP) G S 66 rs2255607 Benign
56596 Q96EK7 (FAM120B) D Y 370 rs6917485 Benign
56597 Q96EK7 (FAM120B) M T 379 rs6905356 Benign
56598 Q96EK7 (FAM120B) Y C 428 rs6900199 Benign
56599 Q96EK7 (FAM120B) D G 430 rs6900202 Benign
56600 Q96EK7 (FAM120B) S P 431 rs6905610 Benign
56601 Q96EK7 (FAM120B) P A 433 rs6934830 Benign
56602 Q96EK7 (FAM120B) Y C 440 rs9366138 Benign
56603 Q96EK7 (FAM120B) C G 511 rs9348266 Benign
56604 Q96EK9 (KTI12) D E 191 rs2783175 Benign
56605 Q96EL2 (MRPS24) W R 97 rs670573 Benign
56606 Q96EL3 (MRPL53) A S 4 rs1047911 Benign
56607 Q96EM0 (L3HYPDH) V A 42 rs17096291 Benign
56608 Q96EM0 (L3HYPDH) P S 125 rs35622288 Benign
56609 Q96EM0 (L3HYPDH) A V 315 rs1046701 Benign
56610 Q96EM0 (L3HYPDH) I V 341 rs8660 Benign
56611 Q96EN8 (MOCOS) A P 57 rs886037854 Disease: Xanthinuria 2 (XAN2) [MIM:603592]
56612 Q96EN8 (MOCOS) S N 120 rs3744900 Benign
56613 Q96EN8 (MOCOS) T I 170 rs623053 Benign
56614 Q96EN8 (MOCOS) S G 184 rs540967 Benign
56615 Q96EN8 (MOCOS) H R 225 rs623558 Benign
56616 Q96EN8 (MOCOS) T I 294 rs577279030 Disease: Xanthinuria 2 (XAN2) [MIM:603592]
56617 Q96EN8 (MOCOS) V M 358 rs678560 Benign
56618 Q96EN8 (MOCOS) D N 495 rs8088347 Benign
56619 Q96EN8 (MOCOS) V L 541 rs672924 Benign
56620 Q96EN8 (MOCOS) H N 703 rs594445 Benign
56621 Q96EN8 (MOCOS) R C 776 rs750896617 Disease: Xanthinuria 2 (XAN2) [MIM:603592]
56622 Q96EN8 (MOCOS) V A 867 rs1057251 Benign
56623 Q96EP0 (RNF31) V I 1061 rs2277484 Benign
56624 Q96EP1 (CHFR) G R 270 rs115096950 Benign
56625 Q96EP1 (CHFR) A V 497 rs2306541 Benign
56626 Q96EP1 (CHFR) V M 580 rs2306536 Benign
56627 Q96EQ8 (RNF125) M I 112 rs786201014 Disease: Tenorio syndrome (TNORS) [MIM:616260]
56628 Q96EQ8 (RNF125) S L 163 rs373764886 Disease: Tenorio syndrome (TNORS) [MIM:616260]
56629 Q96EQ8 (RNF125) R C 174 rs370242930 Disease: Tenorio syndrome (TNORS) [MIM:616260]
56630 Q96ER3 (SAAL1) I V 315 rs35525096 Benign
56631 Q96ER3 (SAAL1) S G 426 rs28930681 Benign
56632 Q96ER9 (CCDC51) F S 360 rs7618609 Benign
56633 Q96ES6 (MFSD3) G R 292 rs2306387 Benign
56634 Q96ET8 (TVP23C) D A 12 rs17850828 Benign
56635 Q96ET8 (TVP23C) L Q 271 rs12150518 Benign
56636 Q96EU6 (RRP36) A G 78 rs3749903 Benign
56637 Q96EU7 (C1GALT1C1) D E 131 rs17261572 Benign
56638 Q96EU7 (C1GALT1C1) A V 143 rs45557031 Benign
56639 Q96EU7 (C1GALT1C1) E K 152 rs137853599 Disease: Tn polyagglutin ation syndrome (TNPS) [MIM:300622]
56640 Q96EU7 (C1GALT1C1) S P 193 rs397514537 Disease: Tn polyagglutin ation syndrome (TNPS) [MIM:300622]
56641 Q96EU7 (C1GALT1C1) Q H 222 rs200973382 Benign
56642 Q96EV2 (RBM33) T A 574 rs3735576 Benign
56643 Q96EV8 (DTNBP1) G D 214 rs16876589 Benign
56644 Q96EV8 (DTNBP1) P S 272 rs17470454 Benign
56645 Q96EW2 (HSPBAP1) S A 64 rs16833517 Benign
56646 Q96EX3 (WDR34) A V 22 rs201715229 Benign
56647 Q96EX3 (WDR34) C F 148 - Disease: Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
56648 Q96EX3 (WDR34) R C 206 rs148543026 Benign
56649 Q96EX3 (WDR34) A V 341 rs587777091 Disease: Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
56650 Q96EX3 (WDR34) T M 354 rs587777092 Disease: Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
56651 Q96EX3 (WDR34) P L 390 - Disease: Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
56652 Q96EX3 (WDR34) G S 393 rs587777096 Disease: Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
56653 Q96EX3 (WDR34) S I 410 - Disease: Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
56654 Q96EX3 (WDR34) K R 436 rs587777098 Disease: Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
56655 Q96EX3 (WDR34) R Q 447 rs587777094 Disease: Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
56656 Q96EX3 (WDR34) R W 447 rs587777093 Disease: Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]
56657 Q96EY1 (DNAJA3) N Y 75 rs1139653 Benign
56658 Q96EY4 (TMA16) R Q 12 rs34907234 Benign
56659 Q96EY4 (TMA16) Q P 65 rs2304802 Benign
56660 Q96EY4 (TMA16) I T 176 rs1561736 Benign
56661 Q96EY5 (MVB12A) C Y 106 rs34949802 Benign
56662 Q96EY7 (PTCD3) A V 2 rs13393659 Benign
56663 Q96EY7 (PTCD3) S G 681 rs2241433 Benign
56664 Q96EY8 (MMAB) R H 19 rs10774775 Benign
56665 Q96EY8 (MMAB) R Q 19 rs36013132 Benign
56666 Q96EY8 (MMAB) I T 96 rs864309509 Disease: Methylmaloni c aciduria type cblB (MMAB) [MIM:251110]
56667 Q96EY8 (MMAB) A T 135 rs35648932 Disease: Methylmaloni c aciduria type cblB (MMAB) [MIM:251110]
56668 Q96EY8 (MMAB) R W 186 rs28941784 Disease: Methylmaloni c aciduria type cblB (MMAB) [MIM:251110]
56669 Q96EY8 (MMAB) R W 191 rs376128990 Disease: Methylmaloni c aciduria type cblB (MMAB) [MIM:251110]
56670 Q96EY8 (MMAB) E K 193 rs749758687 Disease: Methylmaloni c aciduria type cblB (MMAB) [MIM:251110]
56671 Q96EY8 (MMAB) M K 239 rs9593 Benign
56672 Q96EY9 (ADAT3) V M 128 - Disease: Mental retardation, autosomal recessive 36 (MRT36) [MIM:615286]
56673 Q96EZ4 (MYEOV) V A 159 rs7103126 Benign
56674 Q96EZ4 (MYEOV) R Q 198 rs11539762 Benign
56675 Q96EZ4 (MYEOV) G R 271 rs11228610 Benign
56676 Q96EZ4 (MYEOV) P T 284 rs12274095 Benign
56677 Q96F05 (C11orf24) G V 97 rs3802746 Benign
56678 Q96F05 (C11orf24) A T 150 rs901827 Benign
56679 Q96F07 (CYFIP2) R C 87 rs1131692231 Disease: Epileptic encephalopat hy, early infantile, 65 (EIEE65) [MIM:618008]
56680 Q96F07 (CYFIP2) R L 87 rs1554108163 Disease: Epileptic encephalopat hy, early infantile, 65 (EIEE65) [MIM:618008]
56681 Q96F07 (CYFIP2) R P 87 - Disease: Epileptic encephalopat hy, early infantile, 65 (EIEE65) [MIM:618008]
56682 Q96F07 (CYFIP2) K E 320 rs3207362 Benign
56683 Q96F10 (SAT2) R C 126 rs13894 Benign
56684 Q96F25 (ALG14) V M 14 rs11165298 Benign
56685 Q96F25 (ALG14) P L 65 rs730882050 Disease: Myasthenic syndrome, congenital, 15 (CMS15) [MIM:616227]
56686 Q96F45 (ZNF503) N K 509 rs35764982 Benign
56687 Q96F46 (IL17RA) A V 367 rs879577 Benign
56688 Q96F46 (IL17RA) P Q 562 rs12484684 Benign
56689 Q96F46 (IL17RA) R H 580 rs17850765 Benign
56690 Q96F81 (DISP1) E K 103 rs2609383 Benign
56691 Q96F86 (EDC3) F S 54 rs1057517676 Disease: Mental retardation, autosomal recessive 50 (MRT50) [MIM:616460]
56692 Q96FB5 (RRNAD1) V L 400 rs4311877 Benign
56693 Q96FC7 (PHYHIPL) V L 342 rs2452505 Benign
56694 Q96FC9 (DDX11) I S 39 - Benign
56695 Q96FC9 (DDX11) R Q 263 rs201968272 Disease: Warsaw breakage syndrome (WBRS) [MIM:613398]
56696 Q96FC9 (DDX11) Q E 567 rs2075322 Benign
56697 Q96FC9 (DDX11) T M 575 rs17857386 Benign
56698 Q96FC9 (DDX11) R H 856 rs1046457 Benign
56699 Q96FC9 (DDX11) C R 864 rs3893679 Benign
56700 Q96FC9 (DDX11) C R 951 rs1046458 Benign
56701 Q96FC9 (DDX11) W C 966 rs14330 Benign
56702 Q96FE5 (LINGO1) S F 183 rs9855 Benign
56703 Q96FE5 (LINGO1) Y C 288 rs750612085 Disease: Mental retardation, autosomal recessive 64 (MRT64) [MIM:618103]
56704 Q96FE5 (LINGO1) R H 290 rs757077698 Disease: Mental retardation, autosomal recessive 64 (MRT64) [MIM:618103]
56705 Q96FE7 (PIK3IP1) T S 251 rs2040533 Benign
56706 Q96FF7 (MISP3) V A 198 rs7258963 Benign
56707 Q96FF9 (CDCA5) S Y 156 rs34020666 Benign
56708 Q96FG2 (ELMOD3) R C 66 rs7564372 Benign
56709 Q96FG2 (ELMOD3) T I 70 rs955592 Benign
56710 Q96FG2 (ELMOD3) L S 265 rs587777040 Disease: Deafness, autosomal recessive, 88 (DFNB88) [MIM:615429]
56711 Q96FI4 (NEIL1) S C 82 rs5745905 Benign
56712 Q96FI4 (NEIL1) G D 83 rs5745906 Benign
56713 Q96FI4 (NEIL1) C R 136 rs5745907 Benign
56714 Q96FI4 (NEIL1) R Q 159 rs769880000 Benign
56715 Q96FI4 (NEIL1) E K 181 rs749636951 Benign
56716 Q96FI4 (NEIL1) I M 182 rs7183491 Benign
56717 Q96FI4 (NEIL1) D N 252 rs5745926 Benign
56718 Q96FJ0 (STAMBPL1) S N 196 rs12254856 Benign
56719 Q96FJ0 (STAMBPL1) E K 204 rs34270879 Benign
56720 Q96FJ0 (STAMBPL1) A T 210 rs9988723 Benign
56721 Q96FL8 (SLC47A1) V I 338 rs35790011 Benign
56722 Q96FL9 (GALNT14) Q K 469 rs2288101 Benign
56723 Q96FM1 (PGAP3) G D 92 rs587777251 Disease: Hyperphospha tasia with mental retardation syndrome 4 (HPMRS4) [MIM:615716]
56724 Q96FM1 (PGAP3) P R 105 rs371549948 Disease: Hyperphospha tasia with mental retardation syndrome 4 (HPMRS4) [MIM:615716]
56725 Q96FM1 (PGAP3) D G 305 rs587777252 Disease: Hyperphospha tasia with mental retardation syndrome 4 (HPMRS4) [MIM:615716]
56726 Q96FN9 (DTD2) R W 6 rs17097904 Benign
56727 Q96FQ7 (LINC00526) P A 16 rs7242964 Benign
56728 Q96FS4 (SIPA1) R Q 80 rs35045265 Benign
56729 Q96FS4 (SIPA1) A S 106 rs3741379 Benign
56730 Q96FS4 (SIPA1) E D 174 rs34912782 Benign
56731 Q96FS4 (SIPA1) S F 182 rs3741378 Benign
56732 Q96FT7 (ASIC4) P Q 614 rs6436153 Benign
56733 Q96FT7 (ASIC4) R L 616 rs11689281 Benign
56734 Q96FT7 (ASIC4) V A 619 rs11695248 Benign
56735 Q96FT9 (IFT43) E K 34 rs140366557 Disease: Retinitis pigmentosa 81 (RP81) [MIM:617871]
56736 Q96FT9 (IFT43) R H 85 rs2302858 Benign
56737 Q96FT9 (IFT43) W R 174 rs1555369050 Disease: Short-rib thoracic dysplasia 18 with polydactyly (SRTD18) [MIM:617866]
56738 Q96FV2 (SCRN2) K R 103 rs17856536 Benign
56739 Q96FV2 (SCRN2) E Q 273 rs35901087 Benign
56740 Q96FV2 (SCRN2) M V 323 rs7350974 Benign
56741 Q96FV2 (SCRN2) Q R 330 rs34480825 Benign
56742 Q96FV2 (SCRN2) S G 411 rs17856535 Benign
56743 Q96FV3 (TSPAN17) I T 140 rs17624798 Benign
56744 Q96FX7 (TRMT61A) V A 66 - Benign
56745 Q96FX8 (PERP) P R 143 rs648802 Benign
56746 Q96FX8 (PERP) P L 174 rs75183345 Benign
56747 Q96FZ7 (CHMP6) G S 55 rs61037507 Benign
56748 Q96G01 (BICD1) T A 778 rs200845476 Benign
56749 Q96G03 (PGM2) G D 10 rs17856324 Benign
56750 Q96G03 (PGM2) E D 488 rs10001580 Benign
56751 Q96G04 (EEF2KMT) S C 123 rs9673733 Benign
56752 Q96G04 (EEF2KMT) V I 230 rs148557961 Benign
56753 Q96G04 (EEF2KMT) R W 270 rs3204207 Benign
56754 Q96G04 (EEF2KMT) H D 272 rs12928528 Benign
56755 Q96G04 (EEF2KMT) T I 329 rs760584474 Benign
56756 Q96G23 (CERS2) E A 115 rs267738 Benign
56757 Q96G28 (CFAP36) E D 6 rs34891804 Benign
56758 Q96G28 (CFAP36) D G 243 rs1045910 Benign
56759 Q96G28 (CFAP36) I F 246 rs1045920 Benign
56760 Q96G46 (DUS3L) R G 185 rs2436487 Benign
56761 Q96G46 (DUS3L) D N 609 rs12977803 Benign
56762 Q96G61 (NUDT11) S N 39 - Benign
56763 Q96G91 (P2RY11) A T 87 rs3745601 Benign
56764 Q96G97 (BSCL2) N S 88 rs137852972 Disease: Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685]
56765 Q96G97 (BSCL2) S L 90 rs137852973 Disease: Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685]
56766 Q96G97 (BSCL2) A P 212 rs137852971 Disease: Congenital generalized lipodystroph y 2 (CGL2) [MIM:269700]
56767 Q96GC5 (MRPL48) E G 6 rs17850551 Benign
56768 Q96GC6 (ZNF274) V I 147 rs7256349 Benign
56769 Q96GD4 (AURKB) A V 52 rs55878091 Benign
56770 Q96GD4 (AURKB) H Q 100 rs3027254 Benign
56771 Q96GD4 (AURKB) T M 179 rs55871613 Benign
56772 Q96GD4 (AURKB) M T 298 rs1059476 Benign
56773 Q96GE4 (CEP95) M I 165 rs9910506 Benign
56774 Q96GE4 (CEP95) A V 811 rs11550922 Benign
56775 Q96GE5 (ZNF799) G V 44 rs1134387 Benign
56776 Q96GE5 (ZNF799) C R 593 rs8112445 Benign
56777 Q96GE6 (CALML4) R C 28 rs3803381 Benign
56778 Q96GE6 (CALML4) T K 154 rs2280217 Benign
56779 Q96GE9 (DMAC1) P T 28 rs1127430 Benign
56780 Q96GJ1 (TRMT2B) S R 12 rs7064613 Benign
56781 Q96GK7 (FAHD2A) M T 198 rs1045332 Benign
56782 Q96GM8 (TOE1) R S 73 rs774056037 Disease: Pontocerebel lar hypoplasia 7 (PCH7) [MIM:614969]
56783 Q96GM8 (TOE1) A T 103 rs371848318 Disease: Pontocerebel lar hypoplasia 7 (PCH7) [MIM:614969]
56784 Q96GM8 (TOE1) F Y 148 rs148067486 Disease: Pontocerebel lar hypoplasia 7 (PCH7) [MIM:614969]
56785 Q96GM8 (TOE1) V G 173 rs777030573 Disease: Pontocerebel lar hypoplasia 7 (PCH7) [MIM:614969]
56786 Q96GM8 (TOE1) E K 220 - Disease: Pontocerebel lar hypoplasia 7 (PCH7) [MIM:614969]
56787 Q96GM8 (TOE1) F S 239 rs778263701 Disease: Pontocerebel lar hypoplasia 7 (PCH7) [MIM:614969]
56788 Q96GM8 (TOE1) R W 253 rs368182654 Disease: Pontocerebel lar hypoplasia 7 (PCH7) [MIM:614969]
56789 Q96GM8 (TOE1) H Q 319 rs758153898 Disease: Pontocerebel lar hypoplasia 7 (PCH7) [MIM:614969]
56790 Q96GM8 (TOE1) H Y 319 rs750266350 Disease: Pontocerebel lar hypoplasia 7 (PCH7) [MIM:614969]
56791 Q96GM8 (TOE1) R H 341 rs9429157 Benign
56792 Q96GM8 (TOE1) E K 381 rs61323219 Benign
56793 Q96GM8 (TOE1) S F 496 - Disease: Pontocerebel lar hypoplasia 7 (PCH7) [MIM:614969]
56794 Q96GN5 (CDCA7L) D N 45 - Benign
56795 Q96GN5 (CDCA7L) R S 187 rs35281045 Benign
56796 Q96GP6 (SCARF2) P S 174 rs361566 Benign
56797 Q96GP6 (SCARF2) C Y 258 rs387907086 Disease: Van den Ende-Gupta syndrome (VDEGS) [MIM:600920]
56798 Q96GP6 (SCARF2) T S 425 rs2241230 Benign
56799 Q96GP6 (SCARF2) H L 522 rs12484828 Benign
56800 Q96GP6 (SCARF2) E D 778 rs759611 Benign
56801 Q96GP6 (SCARF2) L V 779 rs759612 Benign
56802 Q96GP6 (SCARF2) A G 820 rs874100 Benign
56803 Q96GP6 (SCARF2) A G 838 rs874101 Benign
56804 Q96GQ5 (RUSF1) Y C 185 rs17855405 Benign
56805 Q96GQ7 (DDX27) G S 766 rs1130146 Benign
56806 Q96GR2 (ACSBG1) E V 194 rs12899901 Benign
56807 Q96GR2 (ACSBG1) M V 633 rs2304824 Benign
56808 Q96GR2 (ACSBG1) A V 673 rs11072735 Benign
56809 Q96GR4 (ZDHHC12) P S 69 rs2298039 Benign
56810 Q96GR4 (ZDHHC12) Q L 172 rs2900268 Benign
56811 Q96GW7 (BCAN) S L 356 rs12065791 Benign
56812 Q96GW7 (BCAN) E K 504 rs1056695 Benign
56813 Q96GW9 (MARS2) R W 142 rs794726870 Disease: Combined oxidative phosphorylat ion deficiency 25 (COXPD25) [MIM:616430]
56814 Q96GX5 (MASTL) T K 337 rs36121140 Benign
56815 Q96GX5 (MASTL) D Y 606 rs35413630 Benign
56816 Q96GX5 (MASTL) V I 610 rs35571315 Benign
56817 Q96GX5 (MASTL) P A 620 rs3802526 Benign
56818 Q96GX9 (APIP) R W 7 rs2956114 Benign
56819 Q96GX9 (APIP) H R 23 rs17850326 Benign
56820 Q96GX9 (APIP) C Y 76 rs1977420 Benign
56821 Q96GX9 (APIP) M V 181 rs17850327 Benign
56822 Q96GY0 (ZC2HC1A) T A 156 rs17850447 Benign
56823 Q96GY3 (LIN37) A V 16 rs170758 Benign
56824 Q96GY3 (LIN37) P S 172 rs35617825 Benign
56825 Q96GZ6 (SLC41A3) T A 62 rs4234270 Benign
56826 Q96GZ6 (SLC41A3) V M 71 rs11543283 Benign
56827 Q96H15 (TIMD4) V A 240 rs6873053 Benign
56828 Q96H15 (TIMD4) V M 365 rs7731575 Benign
56829 Q96H22 (CENPN) E D 84 rs935939 Benign
56830 Q96H22 (CENPN) Q R 223 rs11641523 Benign
56831 Q96H22 (CENPN) E K 288 rs2549887 Benign
56832 Q96H55 (MYO19) N S 176 rs2306595 Benign
56833 Q96H55 (MYO19) Q H 203 rs9890918 Benign
56834 Q96H55 (MYO19) L I 475 rs7217346 Benign
56835 Q96H72 (SLC39A13) E G 28 rs2010519 Benign
56836 Q96H72 (SLC39A13) P L 346 rs35978122 Benign
56837 Q96H78 (SLC25A44) S I 52 rs11576750 Benign
56838 Q96H86 (ZNF764) A V 332 rs17850402 Benign
56839 Q96H96 (COQ2) L V 16 rs6818847 Benign
56840 Q96H96 (COQ2) P L 22 - Benign
56841 Q96H96 (COQ2) F L 29 - Disease: Multiple system atrophy 1 (MSA1) [MIM:146500]
56842 Q96H96 (COQ2) P H 49 - Disease: Multiple system atrophy 1 (MSA1) [MIM:146500]
56843 Q96H96 (COQ2) S T 57 - Disease: Multiple system atrophy 1 (MSA1) [MIM:146500]
56844 Q96H96 (COQ2) R H 69 - Benign
56845 Q96H96 (COQ2) M V 78 - Disease: Multiple system atrophy 1 (MSA1) [MIM:146500]
56846 Q96H96 (COQ2) S N 96 - Disease: Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]
56847 Q96H96 (COQ2) I T 97 - Disease: Multiple system atrophy 1 (MSA1) [MIM:146500]
56848 Q96H96 (COQ2) P S 107 - Disease: Multiple system atrophy 1 (MSA1) [MIM:146500]
56849 Q96H96 (COQ2) S F 113 - Disease: Multiple system atrophy 1 (MSA1) [MIM:146500]
56850 Q96H96 (COQ2) M R 132 - Disease: Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]
56851 Q96H96 (COQ2) R H 147 - Disease: Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]
56852 Q96H96 (COQ2) N S 178 - Disease: Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]
56853 Q96H96 (COQ2) Y C 247 - Disease: Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]
56854 Q96H96 (COQ2) A V 252 - Disease: Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]
56855 Q96H96 (COQ2) T A 267 - Disease: Multiple system atrophy 1 (MSA1) [MIM:146500]
56856 Q96H96 (COQ2) S C 297 - Disease: Multiple system atrophy 1 (MSA1) [MIM:146500]
56857 Q96H96 (COQ2) N H 336 - Benign
56858 Q96H96 (COQ2) R Q 337 - Disease: Multiple system atrophy 1 (MSA1) [MIM:146500]
56859 Q96H96 (COQ2) V A 343 rs397514727 Disease: Multiple system atrophy 1 (MSA1) [MIM:146500]
56860 Q96HA1 (POM121) A G 1215 rs3177261 Benign
56861 Q96HA7 (TONSL) S N 174 - Disease: Spondyloepim etaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510]
56862 Q96HA7 (TONSL) E K 199 - Disease: Spondyloepim etaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510]
56863 Q96HA7 (TONSL) V M 488 rs2229314 Benign
56864 Q96HA7 (TONSL) G S 493 rs2229315 Benign
56865 Q96HA7 (TONSL) E K 539 - Disease: Spondyloepim etaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510]
56866 Q96HA7 (TONSL) R Q 558 - Disease: Spondyloepim etaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510]
56867 Q96HA7 (TONSL) T M 653 - Disease: Spondyloepim etaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510]
56868 Q96HA7 (TONSL) A V 714 rs7830832 Benign
56869 Q96HA7 (TONSL) R W 934 - Disease: Spondyloepim etaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510]
56870 Q96HA7 (TONSL) G R 973 - Disease: Spondyloepim etaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510]
56871 Q96HA7 (TONSL) S P 1197 - Disease: Spondyloepim etaphyseal dysplasia, sponastrime type (SEMDSP) [MIM:271510]
56872 Q96HA7 (TONSL) P L 1276 rs4925856 Benign
56873 Q96HA8 (NTAQ1) I V 32 rs6999234 Benign
56874 Q96HA8 (NTAQ1) N S 93 rs7014678 Benign
56875 Q96HA8 (NTAQ1) F I 116 rs6470147 Benign
56876 Q96HA8 (NTAQ1) R C 134 rs3824250 Benign
56877 Q96HA9 (PEX11G) C W 91 rs2303146 Benign
56878 Q96HC4 (PDLIM5) S F 136 rs2452600 Benign
56879 Q96HC4 (PDLIM5) S L 319 rs1064238 Benign
56880 Q96HC4 (PDLIM5) A T 345 rs966845 Benign
56881 Q96HC4 (PDLIM5) T A 381 rs7690296 Benign
56882 Q96HC4 (PDLIM5) P S 388 rs7690464 Benign
56883 Q96HC4 (PDLIM5) S N 492 rs13107595 Benign
56884 Q96HD1 (CRELD1) M V 13 rs279552 Benign
56885 Q96HD1 (CRELD1) R H 107 rs28941780 Disease: Atrioventric ular septal defect 2 (AVSD2) [MIM:606217]
56886 Q96HD1 (CRELD1) P R 128 rs2302787 Benign
56887 Q96HD1 (CRELD1) P A 162 rs121912626 Disease: Atrioventric ular septal defect 2 (AVSD2) [MIM:606217]
56888 Q96HD1 (CRELD1) T I 311 rs28942092 Disease: Atrioventric ular septal defect 2 (AVSD2) [MIM:606217]
56889 Q96HD1 (CRELD1) R C 329 rs28942091 Disease: Atrioventric ular septal defect 2 (AVSD2) [MIM:606217]
56890 Q96HD9 (ACY3) R Q 8 rs948445 Benign
56891 Q96HD9 (ACY3) V M 281 rs2290959 Benign
56892 Q96HF1 (SFRP2) A V 45 rs4643790 Benign
56893 Q96HI0 (SENP5) N S 83 rs35434690 Benign
56894 Q96HI0 (SENP5) L F 340 rs34251880 Benign
56895 Q96HJ3 (CCDC34) P S 53 rs11549824 Benign
56896 Q96HJ3 (CCDC34) H N 192 rs12364852 Benign
56897 Q96HJ3 (CCDC34) E A 264 rs17244028 Benign
56898 Q96HJ3 (CCDC34) I V 319 rs16925453 Benign
56899 Q96HJ9 (FMC1) S A 8 rs10265 Benign
56900 Q96HM7 (PCED1B) P A 429 rs2543737 Benign
56901 Q96HP0 (DOCK6) P L 250 rs12978266 Benign
56902 Q96HP0 (DOCK6) P L 555 rs12609039 Benign
56903 Q96HP0 (DOCK6) G R 665 rs17001264 Benign
56904 Q96HP0 (DOCK6) R C 826 rs35881692 Benign
56905 Q96HP0 (DOCK6) V L 1420 rs8108071 Benign
56906 Q96HP0 (DOCK6) A T 1442 rs34243815 Benign
56907 Q96HP4 (OXNAD1) R Q 59 rs17042066 Benign
56908 Q96HP4 (OXNAD1) S A 64 rs842274 Benign
56909 Q96HP4 (OXNAD1) R C 82 rs6777976 Benign
56910 Q96HP8 (TMEM176A) T A 122 rs741064 Benign
56911 Q96HP8 (TMEM176A) L F 187 rs10378 Benign
56912 Q96HP8 (TMEM176A) T A 208 rs9088 Benign
56913 Q96HQ0 (ZNF419) E Q 141 rs2074076 Benign
56914 Q96HQ0 (ZNF419) I V 336 rs2074077 Benign
56915 Q96HR8 (NAF1) P S 43 rs12331663 Benign
56916 Q96HR8 (NAF1) I V 162 rs4691896 Benign
56917 Q96HR9 (REEP6) E K 75 rs144942685 Disease: Retinitis pigmentosa 77 (RP77) [MIM:617304]
56918 Q96HR9 (REEP6) P L 128 rs1057519317 Disease: Retinitis pigmentosa 77 (RP77) [MIM:617304]
56919 Q96HR9 (REEP6) L P 135 rs1057519316 Disease: Retinitis pigmentosa 77 (RP77) [MIM:617304]
56920 Q96HR9 (REEP6) A D 150 rs2271412 Benign
56921 Q96HU1 (SGSM3) W R 20 rs9611338 Benign
56922 Q96HU1 (SGSM3) H Q 279 rs34243479 Benign
56923 Q96HY6 (DDRGK1) A T 303 rs11591 Benign
56924 Q96HY7 (DHTKD1) F L 20 rs1279138 Benign
56925 Q96HY7 (DHTKD1) Y D 272 rs3740015 Benign
56926 Q96HY7 (DHTKD1) R L 308 rs17849603 Benign
56927 Q96HY7 (DHTKD1) N D 350 rs34716552 Benign
56928 Q96HY7 (DHTKD1) I M 607 rs2062988 Benign
56929 Q96HY7 (DHTKD1) G R 729 rs117225135 Disease: 2-aminoadipi c 2-oxoadipic aciduria (AMOXAD) [MIM:204750]
56930 Q96HZ4 (HES6) R Q 218 rs3739061 Benign
56931 Q96I15 (SCLY) K E 52 rs7597367 Benign
56932 Q96I15 (SCLY) A T 175 rs3210400 Benign
56933 Q96I15 (SCLY) F S 276 rs35637307 Benign
56934 Q96I27 (ZNF625) V M 41 rs7258368 Benign
56935 Q96I36 (COX14) M I 19 rs587776904 Benign
56936 Q96I51 (RCC1L) R G 30 rs6955671 Benign
56937 Q96I59 (NARS2) N T 87 rs10501429 Benign
56938 Q96I59 (NARS2) V F 213 - Disease: Deafness, autosomal recessive, 94 (DFNB94) [MIM:618434]
56939 Q96I59 (NARS2) P L 214 rs730882155 Disease: Combined oxidative phosphorylat ion deficiency 24 (COXPD24) [MIM:616239]
56940 Q96I59 (NARS2) N S 381 - Disease: Combined oxidative phosphorylat ion deficiency 24 (COXPD24) [MIM:616239]
56941 Q96I82 (KAZALD1) C G 76 rs11547671 Benign
56942 Q96I82 (KAZALD1) G D 236 rs11190812 Benign
56943 Q96I82 (KAZALD1) G A 255 rs807037 Benign
56944 Q96I82 (KAZALD1) R H 256 rs36116329 Benign
56945 Q96I99 (SUCLG2) K R 347 rs9843840 Benign
56946 Q96I99 (SUCLG2) R W 381 rs7623258 Benign
56947 Q96ID5 (IGSF21) R H 245 rs2355877 Benign
56948 Q96ID5 (IGSF21) T M 379 rs12076815 Benign
56949 Q96II8 (LRCH3) P L 522 rs36078463 Benign
56950 Q96IJ6 (GMPPA) S F 21 rs34218609 Benign
56951 Q96IJ6 (GMPPA) V A 156 rs13396066 Benign
56952 Q96IJ6 (GMPPA) G D 182 rs397518462 Disease: Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]
56953 Q96IJ6 (GMPPA) T M 334 rs774778439 Disease: Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]
56954 Q96IJ6 (GMPPA) T P 334 rs397518461 Disease: Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]
56955 Q96IJ6 (GMPPA) R P 390 rs1467274040 Disease: Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]
56956 Q96IJ6 (GMPPA) N T 401 - Disease: Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]
56957 Q96IL0 (COA8) P A 27 rs2274268 Benign
56958 Q96IL0 (COA8) N S 88 rs35960830 Benign
56959 Q96IM9 (DYDC2) G S 143 rs1047951 Benign
56960 Q96IP4 (TENT5A) T A 313 - Benign
56961 Q96IQ9 (ZNF414) Q R 65 rs8100431 Benign
56962 Q96IQ9 (ZNF414) P S 77 rs1064010 Benign
56963 Q96IS3 (RAX2) R Q 87 rs121908280 Disease: Macular degeneration , age-related, 6 (ARMD6) [MIM:613757]
56964 Q96IS3 (RAX2) G R 137 rs121908281 Disease: Cone-rod dystrophy 11 (CORD11) [MIM:610381]
56965 Q96IV0 (NGLY1) V I 581 rs7621398 Benign
56966 Q96IV0 (NGLY1) Q R 591 rs7635089 Benign
56967 Q96IV6 (FAXDC2) R H 133 rs17641488 Benign
56968 Q96IW2 (SHD) G S 138 rs2287714 Benign
56969 Q96IW2 (SHD) N S 270 rs888930 Benign
56970 Q96IY1 (NSL1) S F 4 rs17856201 Benign
56971 Q96IY1 (NSL1) M V 254 rs15702 Benign
56972 Q96IY4 (CPB2) A T 169 rs3742264 Benign
56973 Q96IY4 (CPB2) I T 347 rs1926447 Benign
56974 Q96IZ0 (PAWR) P L 42 rs8176804 Benign
56975 Q96IZ0 (PAWR) P R 78 rs8176805 Benign
56976 Q96IZ0 (PAWR) G A 137 rs8176806 Benign
56977 Q96IZ0 (PAWR) E A 202 rs8176870 Benign
56978 Q96IZ2 (ADTRP) V I 202 rs2076185 Benign
56979 Q96IZ5 (RBM41) H Y 376 rs17850127 Benign
56980 Q96J01 (THOC3) C F 326 - Benign
56981 Q96J65 (ABCC12) I L 9 rs16945901 Benign
56982 Q96J65 (ABCC12) A E 102 rs16945874 Benign
56983 Q96J65 (ABCC12) N Y 587 rs16945816 Benign
56984 Q96J65 (ABCC12) E V 690 rs34135219 Benign
56985 Q96J65 (ABCC12) K M 894 rs8057474 Benign
56986 Q96J65 (ABCC12) T S 989 rs6500305 Benign
56987 Q96J65 (ABCC12) Y H 1013 rs6500304 Benign
56988 Q96J65 (ABCC12) R C 1117 rs7193955 Benign
56989 Q96J65 (ABCC12) I T 1187 rs34106426 Benign
56990 Q96J65 (ABCC12) E A 1191 rs16945787 Benign
56991 Q96J65 (ABCC12) F L 1349 rs12373105 Benign
56992 Q96J66 (ABCC11) R H 19 rs16945988 Benign
56993 Q96J66 (ABCC11) G R 180 rs17822931 Benign
56994 Q96J66 (ABCC11) A E 317 rs11863236 Benign
56995 Q96J66 (ABCC11) T M 546 rs17822471 Benign
56996 Q96J66 (ABCC11) R W 630 rs41282045 Benign
56997 Q96J66 (ABCC11) V I 648 rs16945930 Benign
56998 Q96J66 (ABCC11) V I 687 rs16945928 Benign
56999 Q96J66 (ABCC11) K R 735 rs16945926 Benign
57000 Q96J66 (ABCC11) M V 970 rs41280943 Benign
57001 Q96J66 (ABCC11) H R 1344 rs16945916 Benign
57002 Q96J77 (TPD52L3) F L 118 rs3847262 Benign
57003 Q96J84 (KIRREL1) A T 78 rs35927201 Benign
57004 Q96J86 (CYYR1) R H 95 rs35253087 Benign
57005 Q96J86 (CYYR1) P S 111 rs1215339708 Benign
57006 Q96J87 (CELF6) R P 152 rs34566074 Benign
57007 Q96J92 (WNK4) E K 562 rs137853093 Disease: Pseudohypoal dosteronism 2B (PHA2B) [MIM:614491]
57008 Q96J92 (WNK4) D A 564 rs137853094 Disease: Pseudohypoal dosteronism 2B (PHA2B) [MIM:614491]
57009 Q96J92 (WNK4) Q E 565 rs137853092 Disease: Pseudohypoal dosteronism 2B (PHA2B) [MIM:614491]
57010 Q96J92 (WNK4) A S 601 rs55781437 Benign
57011 Q96J92 (WNK4) R W 677 rs9896991 Benign
57012 Q96J92 (WNK4) P L 813 - Benign
57013 Q96J92 (WNK4) P S 961 rs2290041 Benign
57014 Q96J92 (WNK4) L P 1013 - Benign
57015 Q96J92 (WNK4) R C 1185 rs137853095 Disease: Pseudohypoal dosteronism 2B (PHA2B) [MIM:614491]
57016 Q96J94 (PIWIL1) R A 217 - Disease: -
57017 Q96J94 (PIWIL1) L A 220 - Disease: -
57018 Q96J94 (PIWIL1) L G 220 - Disease: -
57019 Q96J94 (PIWIL1) L R 220 - Disease: -
57020 Q96J94 (PIWIL1) N H 224 - Disease: -
57021 Q96J94 (PIWIL1) K N 491 rs17856812 Benign
57022 Q96J94 (PIWIL1) R K 527 rs1106042 Benign
57023 Q96J94 (PIWIL1) L P 575 rs17852568 Benign
57024 Q96JA1 (LRIG1) L V 24 rs1403626 Benign
57025 Q96JA1 (LRIG1) M V 615 rs2306272 Benign
57026 Q96JA1 (LRIG1) G S 926 rs9877201 Benign
57027 Q96JA1 (LRIG1) A T 957 rs332373 Benign
57028 Q96JA1 (LRIG1) G A 993 rs2279289 Benign
57029 Q96JA1 (LRIG1) P R 1031 rs332374 Benign
57030 Q96JA1 (LRIG1) Q P 1053 rs2279290 Benign
57031 Q96JA4 (MS4A14) N Y 177 rs7131283 Benign
57032 Q96JA4 (MS4A14) G R 584 rs3825020 Benign
57033 Q96JB1 (DNAH8) N S 71 rs6935293 Benign
57034 Q96JB1 (DNAH8) G R 473 rs1738254 Benign
57035 Q96JB1 (DNAH8) I V 573 rs3823430 Benign
57036 Q96JB1 (DNAH8) A T 727 rs1678674 Benign
57037 Q96JB1 (DNAH8) G E 807 rs874808 Benign
57038 Q96JB1 (DNAH8) E K 1202 rs9357283 Benign
57039 Q96JB1 (DNAH8) T N 2444 rs862432 Benign
57040 Q96JB1 (DNAH8) T M 4106 rs1537232 Benign
57041 Q96JB1 (DNAH8) I V 4271 rs10484847 Benign
57042 Q96JB2 (COG3) N S 747 rs2274285 Benign
57043 Q96JB5 (CDK5RAP3) L V 324 rs35054799 Benign
57044 Q96JB6 (LOXL4) R Q 154 rs33995374 Benign
57045 Q96JB6 (LOXL4) P T 372 rs11189525 Benign
57046 Q96JB6 (LOXL4) D A 405 rs1983864 Benign
57047 Q96JB8 (MPP4) G S 44 rs6725443 Benign
57048 Q96JB8 (MPP4) V I 562 rs11894115 Benign
57049 Q96JD6 (AKR1E2) C G 52 rs35429729 Benign
57050 Q96JD6 (AKR1E2) K R 86 rs17133693 Benign
57051 Q96JE7 (SEC16B) H R 292 rs12040910 Benign
57052 Q96JE7 (SEC16B) G R 730 rs943762 Benign
57053 Q96JE7 (SEC16B) Q H 845 rs7522194 Benign
57054 Q96JE7 (SEC16B) P A 864 rs591120 Benign
57055 Q96JE7 (SEC16B) S N 873 rs3813649 Benign
57056 Q96JE9 (MAP6) I M 247 rs12225010 Benign
57057 Q96JF0 (ST6GAL2) G R 154 rs3796110 Benign
57058 Q96JF0 (ST6GAL2) I V 341 rs12615112 Benign
57059 Q96JF6 (ZNF594) Q H 166 rs59197486 Benign
57060 Q96JF6 (ZNF594) I T 171 rs9908414 Benign
57061 Q96JF6 (ZNF594) V G 199 rs3853648 Benign
57062 Q96JG9 (ZNF469) S P 357 rs11648572 Benign
57063 Q96JG9 (ZNF469) R S 366 rs11640794 Benign
57064 Q96JG9 (ZNF469) K E 1162 rs7197071 Benign
57065 Q96JG9 (ZNF469) P L 1420 rs4782300 Benign
57066 Q96JG9 (ZNF469) R K 2129 rs13334190 Benign
57067 Q96JG9 (ZNF469) G R 2358 rs12598474 Benign
57068 Q96JG9 (ZNF469) L Q 2670 rs3812956 Benign
57069 Q96JG9 (ZNF469) A T 2710 rs3812955 Benign
57070 Q96JG9 (ZNF469) D V 2749 rs3812954 Benign
57071 Q96JG9 (ZNF469) H R 2848 rs1983014 Benign
57072 Q96JG9 (ZNF469) E Q 3630 rs1105066 Benign
57073 Q96JG9 (ZNF469) T A 3636 rs904783 Benign
57074 Q96JH8 (RADIL) D N 239 rs3763384 Benign
57075 Q96JH8 (RADIL) H D 412 rs2292498 Benign
57076 Q96JH8 (RADIL) S G 886 rs414035 Benign
57077 Q96JH8 (RADIL) L P 938 rs6966329 Benign
57078 Q96JI7 (SPG11) Y C 396 rs3759875 Benign
57079 Q96JI7 (SPG11) F S 463 rs3759871 Benign
57080 Q96JI7 (SPG11) F I 1349 - Disease: Spastic paraplegia 11, autosomal recessive (SPG11) [MIM:604360]
57081 Q96JJ3 (ELMO2) E D 695 rs34630674 Benign
57082 Q96JJ7 (TMX3) P S 61 rs11557684 Benign
57083 Q96JK4 (HHIPL1) V A 692 rs7158073 Benign
57084 Q96JL9 (ZNF333) A E 251 rs3885179 Benign
57085 Q96JL9 (ZNF333) A V 537 rs3764626 Benign
57086 Q96JM2 (ZNF462) M V 404 rs17723637 Benign
57087 Q96JM2 (ZNF462) P S 1187 rs3814541 Benign
57088 Q96JM2 (ZNF462) N S 1828 rs3814538 Benign
57089 Q96JM2 (ZNF462) K R 2052 rs7020769 Benign
57090 Q96JM2 (ZNF462) H L 2452 rs10217192 Benign
57091 Q96JM3 (CHAMP1) L V 568 rs3764522 Benign
57092 Q96JM3 (CHAMP1) K R 591 rs35564629 Benign
57093 Q96JM3 (CHAMP1) P R 604 rs12428067 Benign
57094 Q96JM4 (LRRIQ1) I N 29 rs7312075 Benign
57095 Q96JM4 (LRRIQ1) C Y 83 rs3765044 Benign
57096 Q96JM4 (LRRIQ1) A T 912 rs17012533 Benign
57097 Q96JM7 (L3MBTL3) T N 183 rs9388768 Benign
57098 Q96JN2 (CCDC136) D H 218 rs3816887 Benign
57099 Q96JN2 (CCDC136) Q E 1049 rs4728137 Benign
57100 Q96JN8 (NEURL4) Q H 1019 rs3809813 Benign
57101 Q96JP2 (MYO15B) R W 547 rs3803728 Benign
57102 Q96JP5 (ZFP91) V I 37 rs17854702 Benign
57103 Q96JP5 (ZFP91) S G 207 rs8373 Benign
57104 Q96JP9 (CDHR1) H Q 53 rs12781048 Benign
57105 Q96JP9 (CDHR1) T S 171 - Benign
57106 Q96JP9 (CDHR1) A T 212 rs200880106 Benign
57107 Q96JP9 (CDHR1) A V 243 rs7086200 Benign
57108 Q96JP9 (CDHR1) P A 532 rs143662988 Benign
57109 Q96JP9 (CDHR1) P A 574 - Disease: Cone-rod dystrophy 15 (CORD15) [MIM:613660]
57110 Q96JQ0 (DCHS1) P L 197 rs145099391 Benign
57111 Q96JQ0 (DCHS1) T M 1949 rs4758443 Benign
57112 Q96JQ0 (DCHS1) L Q 2172 rs56920123 Benign
57113 Q96JQ0 (DCHS1) R C 2330 rs768737101 Disease: Mitral valve prolapse 2 (MVP2) [MIM:607829]
57114 Q96JQ0 (DCHS1) V I 2331 rs7924553 Benign
57115 Q96JQ0 (DCHS1) R C 2359 rs2659875 Benign
57116 Q96JQ0 (DCHS1) N I 2370 rs483352919 Disease: Van Maldergem syndrome 1 (VMLDS1) [MIM:601390]
57117 Q96JQ0 (DCHS1) R H 2513 rs201457110 Disease: Mitral valve prolapse 2 (MVP2) [MIM:607829]
57118 Q96JQ2 (CLMN) P L 963 rs10149705 Benign
57119 Q96JQ5 (MS4A4A) K E 52 rs10750931 Benign
57120 Q96JQ5 (MS4A4A) M V 178 rs6591561 Benign
57121 Q96JQ5 (MS4A4A) L I 191 rs4644658 Benign
57122 Q96JS3 (PGBD1) G E 244 rs3800324 Benign
57123 Q96JS3 (PGBD1) G R 244 rs3800324 Benign
57124 Q96JS3 (PGBD1) Q E 248 rs3800325 Benign
57125 Q96JS3 (PGBD1) P L 256 rs3800326 Benign
57126 Q96JS3 (PGBD1) N S 398 rs33932084 Benign
57127 Q96JS3 (PGBD1) M I 592 rs16893917 Benign
57128 Q96JS3 (PGBD1) I V 678 rs1997660 Benign
57129 Q96JS3 (PGBD1) H D 806 rs6456811 Benign
57130 Q96JX3 (SERAC1) G D 401 - Disease: 3-methylglut aconic aciduria with deafness, encephalopat hy, and Leigh-like syndrome (MEGDEL) [MIM:614739]
57131 Q96JX3 (SERAC1) G E 404 - Disease: 3-methylglut aconic aciduria with deafness, encephalopat hy, and Leigh-like syndrome (MEGDEL) [MIM:614739]
57132 Q96JX3 (SERAC1) S T 498 rs201941476 Disease: 3-methylglut aconic aciduria with deafness, encephalopat hy, and Leigh-like syndrome (MEGDEL) [MIM:614739]
57133 Q96JX3 (SERAC1) S T 543 rs17849527 Benign
57134 Q96JY0 (MAEL) S A 41 rs11578336 Benign
57135 Q96K19 (RNF170) R C 199 rs397514478 Disease: Ataxia, sensory, 1, autosomal dominant (SNAX1) [MIM:608984]
57136 Q96K21 (ZFYVE19) R H 210 rs34819163 Benign
57137 Q96K21 (ZFYVE19) S A 376 rs690347 Benign
57138 Q96K21 (ZFYVE19) R C 398 rs72735636 Benign
57139 Q96K30 (RITA1) S W 113 rs16942601 Benign
57140 Q96K30 (RITA1) T K 220 rs34831139 Benign
57141 Q96K58 (ZNF668) V L 25 rs2032917 Benign
57142 Q96K58 (ZNF668) G E 304 rs17851949 Benign
57143 Q96K58 (ZNF668) A V 447 rs8046978 Benign
57144 Q96K62 (ZBTB45) D E 293 rs35430780 Benign
57145 Q96K76 (USP47) G V 163 rs11022079 Benign
57146 Q96K78 (ADGRG7) K E 151 rs1144122 Benign
57147 Q96K78 (ADGRG7) T S 645 rs16842529 Benign
57148 Q96K78 (ADGRG7) R H 756 rs9872512 Benign
57149 Q96KA5 (CLPTM1L) T M 537 rs33955038 Benign
57150 Q96KB5 (PBK) N S 107 rs3779620 Benign
57151 Q96KB5 (PBK) E D 220 rs17057901 Benign
57152 Q96KB5 (PBK) M L 241 rs36086402 Benign
57153 Q96KC9 (CABS1) K Q 76 rs3796706 Benign
57154 Q96KC9 (CABS1) T I 211 rs1351419 Benign
57155 Q96KC9 (CABS1) W G 298 rs2291182 Benign
57156 Q96KD3 (FAM71F1) S L 228 rs6949056 Benign
57157 Q96KD3 (FAM71F1) E K 242 rs6971091 Benign
57158 Q96KF2 (PRAC1) A V 4 rs34734055 Benign
57159 Q96KG7 (MEGF10) V I 206 rs3812054 Benign
57160 Q96KG7 (MEGF10) C R 326 rs387907073 Disease: Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD) [MIM:614399]
57161 Q96KG7 (MEGF10) C R 774 rs387907072 Disease: Myopathy, early-onset, areflexia, respiratory distress, and dysphagia (EMARDD) [MIM:614399]
57162 Q96KG7 (MEGF10) P L 897 rs13183625 Benign
57163 Q96KG7 (MEGF10) Y C 1030 rs1433266858 Disease: -
57164 Q96KG7 (MEGF10) R K 1072 rs17164935 Benign
57165 Q96KG9 (SCYL1) P L 479 rs55977709 Benign
57166 Q96KG9 (SCYL1) Q H 663 rs56076708 Benign
57167 Q96KG9 (SCYL1) W S 755 rs56077405 Benign
57168 Q96KJ4 (MSLNL) D V 463 rs12599363 Benign
57169 Q96KJ4 (MSLNL) S G 597 rs9746539 Benign
57170 Q96KJ9 (COX4I2) E K 138 rs119455950 Disease: Exocrine pancreatic insufficienc y dyserythropo ietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714]
57171 Q96KJ9 (COX4I2) R H 161 rs11907253 Benign
57172 Q96KK3 (KCNS1) I V 489 rs734784 Benign
57173 Q96KK3 (KCNS1) Q R 508 rs7264544 Benign
57174 Q96KK4 (OR10C1) P S 57 rs17184016 Benign
57175 Q96KK4 (OR10C1) F L 60 rs2074469 Benign
57176 Q96KK4 (OR10C1) R S 89 rs11755182 Benign
57177 Q96KK4 (OR10C1) M V 100 rs17177632 Benign
57178 Q96KK4 (OR10C1) R C 121 rs17177639 Benign
57179 Q96KK4 (OR10C1) R W 138 rs17177646 Benign
57180 Q96KK4 (OR10C1) P S 160 rs2074468 Benign
57181 Q96KK4 (OR10C1) F L 161 rs2074467 Benign
57182 Q96KK4 (OR10C1) P Q 174 rs2074466 Benign
57183 Q96KK4 (OR10C1) M V 246 rs2074464 Benign
57184 Q96KK4 (OR10C1) L I 255 rs17177674 Benign
57185 Q96KK4 (OR10C1) M R 310 rs11968123 Benign
57186 Q96KM6 (ZNF512B) V M 288 rs45486695 Benign
57187 Q96KM6 (ZNF512B) M V 372 rs817326 Benign
57188 Q96KM6 (ZNF512B) A T 453 rs6062599 Benign
57189 Q96KN2 (CNDP1) G R 6 rs11151964 Benign
57190 Q96KN2 (CNDP1) I V 113 rs4263028 Benign
57191 Q96KN3 (PKNOX2) E K 110 rs34936365 Benign
57192 Q96KN7 (RPGRIP1) M L 32 - Benign
57193 Q96KN7 (RPGRIP1) P Q 96 rs1040904 Benign
57194 Q96KN7 (RPGRIP1) S R 135 - Benign
57195 Q96KN7 (RPGRIP1) K E 192 rs6571751 Benign
57196 Q96KN7 (RPGRIP1) A V 318 rs1325466987 Benign
57197 Q96KN7 (RPGRIP1) S F 432 rs190985984 Benign
57198 Q96KN7 (RPGRIP1) A S 547 rs10151259 Disease: Cone-rod dystrophy 13 (CORD13) [MIM:608194]
57199 Q96KN7 (RPGRIP1) P S 585 rs147586703 Benign
57200 Q96KN7 (RPGRIP1) Q H 589 rs34067949 Benign
57201 Q96KN7 (RPGRIP1) R Q 598 rs74034910 Benign
57202 Q96KN7 (RPGRIP1) S L 601 rs3748360 Benign
57203 Q96KN7 (RPGRIP1) S W 601 rs3748360 Benign
57204 Q96KN7 (RPGRIP1) C S 603 - Benign
57205 Q96KN7 (RPGRIP1) H P 631 - Disease: Leber congenital amaurosis 6 (LCA6) [MIM:613826]
57206 Q96KN7 (RPGRIP1) A G 635 rs200325360 Benign
57207 Q96KN7 (RPGRIP1) T I 638 rs1010290273 Benign
57208 Q96KN7 (RPGRIP1) G E 746 rs61751268 Disease: Leber congenital amaurosis 6 (LCA6) [MIM:613826]
57209 Q96KN7 (RPGRIP1) A V 764 rs758652031 Benign
57210 Q96KN7 (RPGRIP1) T I 806 rs142796310 Benign
57211 Q96KN7 (RPGRIP1) R L 814 rs372647080 Benign
57212 Q96KN7 (RPGRIP1) R L 827 rs28937883 Disease: Cone-rod dystrophy 13 (CORD13) [MIM:608194]
57213 Q96KN7 (RPGRIP1) A G 837 rs373515194 Benign
57214 Q96KN7 (RPGRIP1) I V 838 rs772480252 Benign
57215 Q96KN7 (RPGRIP1) A T 841 - Benign
57216 Q96KN7 (RPGRIP1) R Q 852 rs181758389 Benign
57217 Q96KN7 (RPGRIP1) D G 876 rs61751274 Benign
57218 Q96KN7 (RPGRIP1) G D 883 - Benign
57219 Q96KN7 (RPGRIP1) A P 960 rs35810926 Benign
57220 Q96KN7 (RPGRIP1) E Q 1033 rs3748361 Benign
57221 Q96KN7 (RPGRIP1) H L 1057 rs201521970 Benign
57222 Q96KN7 (RPGRIP1) D G 1114 rs17103671 Disease: Leber congenital amaurosis 6 (LCA6) [MIM:613826]
57223 Q96KN7 (RPGRIP1) V E 1211 - Disease: Leber congenital amaurosis 6 (LCA6) [MIM:613826]
57224 Q96KN7 (RPGRIP1) G E 1240 rs34725281 Benign
57225 Q96KN8 (PLAAT5) S G 31 rs10897424 Benign
57226 Q96KN8 (PLAAT5) A P 93 rs940611 Benign
57227 Q96KN8 (PLAAT5) Q R 214 rs35735923 Benign
57228 Q96KN8 (PLAAT5) A V 258 rs35375575 Benign
57229 Q96KN9 (GJD4) A V 90 rs35398622 Benign
57230 Q96KP1 (EXOC2) N T 195 rs35600069 Benign
57231 Q96KP4 (CNDP2) Y H 126 rs2278161 Benign
57232 Q96KP6 (TNIP3) K E 99 rs10000692 Benign
57233 Q96KQ7 (EHMT2) T N 55 rs7887 Benign
57234 Q96KQ7 (EHMT2) Y F 1165 rs13919 Benign
57235 Q96KR1 (ZFR) V I 461 rs4867440 Benign
57236 Q96KR1 (ZFR) I T 520 rs1051489 Benign
57237 Q96KR4 (LMLN) E D 106 rs7373165 Benign
57238 Q96KR6 (FAM210B) P S 126 rs6099115 Benign
57239 Q96KR7 (PHACTR3) P L 154 rs2277759 Benign
57240 Q96KS9 (FAM167A) H Q 56 rs3021513 Benign
57241 Q96KS9 (FAM167A) T S 107 rs3021512 Benign
57242 Q96KT7 (SLC35G5) G D 46 rs6990563 Benign
57243 Q96KT7 (SLC35G5) L P 307 rs12681991 Benign
57244 Q96KV6 (BTN2A3P) G D 79 rs7745238 Benign
57245 Q96KV6 (BTN2A3P) V I 148 rs10946829 Benign
57246 Q96KV6 (BTN2A3P) N S 300 rs2893848 Benign
57247 Q96KV7 (WDR90) S T 165 rs13337278 Benign
57248 Q96KV7 (WDR90) P L 250 rs11642546 Benign
57249 Q96KV7 (WDR90) V A 537 rs3803697 Benign
57250 Q96KV7 (WDR90) P T 1001 rs4984906 Benign
57251 Q96KV7 (WDR90) R H 1492 rs7190775 Benign
57252 Q96KV7 (WDR90) C R 1555 rs11866949 Benign
57253 Q96KW9 (SPACA7) V D 111 rs10816 Benign
57254 Q96KX1 (C4orf36) S N 18 rs11938345 Benign
57255 Q96KX1 (C4orf36) S Y 36 rs1550931 Benign
57256 Q96L03 (SPATA17) N S 16 rs34652544 Benign
57257 Q96L08 (SUSD3) K E 136 rs1131773 Benign
57258 Q96L12 (CALR3) L F 8 rs11544148 Benign
57259 Q96L12 (CALR3) D G 248 rs10411092 Benign
57260 Q96L12 (CALR3) V I 274 rs12459238 Benign
57261 Q96L12 (CALR3) D N 284 rs10404156 Benign
57262 Q96L34 (MARK4) R Q 377 rs35070611 Benign
57263 Q96L42 (KCNH8) Q R 893 rs33915638 Benign
57264 Q96L42 (KCNH8) E Q 984 rs35160416 Benign
57265 Q96L50 (LRR1) I N 96 rs17121605 Benign
57266 Q96L50 (LRR1) R W 229 rs7148147 Benign
57267 Q96L58 (B3GALT6) R W 6 rs397514722 Disease: Ehlers- Danlos syndrome, spondylodysp lastic type, 2 (EDSSPD2) [MIM:615349]
57268 Q96L58 (B3GALT6) S G 65 rs397514719 Disease: Spondyloepim etaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]
57269 Q96L58 (B3GALT6) P L 67 rs397514720 Disease: Spondyloepim etaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]
57270 Q96L58 (B3GALT6) D N 156 rs397514718 Disease: Spondyloepim etaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]
57271 Q96L58 (B3GALT6) E D 174 rs12085009 Benign
57272 Q96L58 (B3GALT6) D H 207 rs397514723 Disease: Spondyloepim etaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]
57273 Q96L58 (B3GALT6) G S 217 rs397514724 Disease: Spondyloepim etaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]
57274 Q96L58 (B3GALT6) R C 232 rs397514717 Disease: Spondyloepim etaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]
57275 Q96L58 (B3GALT6) C S 300 rs786200939 Disease: Spondyloepim etaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]
57276 Q96L58 (B3GALT6) S T 309 rs397514721 Disease: Ehlers- Danlos syndrome, spondylodysp lastic type, 2 (EDSSPD2) [MIM:615349]
57277 Q96L73 (NSD1) V L 614 rs3733875 Benign
57278 Q96L73 (NSD1) A T 691 rs28932177 Benign
57279 Q96L73 (NSD1) S P 726 rs28932178 Benign
57280 Q96L73 (NSD1) A P 1036 rs28932179 Benign
57281 Q96L73 (NSD1) L I 1091 rs35597015 Benign
57282 Q96L73 (NSD1) H L 1616 - Disease: Sotos syndrome 1 (SOTOS1) [MIM:117550]
57283 Q96L73 (NSD1) L P 1637 - Disease: Sotos syndrome 1 (SOTOS1) [MIM:117550]
57284 Q96L73 (NSD1) C W 1674 - Disease: Sotos syndrome 1 (SOTOS1) [MIM:117550]
57285 Q96L73 (NSD1) I N 1687 - Disease: Sotos syndrome 1 (SOTOS1) [MIM:117550]
57286 Q96L73 (NSD1) G V 1792 - Disease: Sotos syndrome 1 (SOTOS1) [MIM:117550]
57287 Q96L73 (NSD1) C R 1925 - Disease: Sotos syndrome 1 (SOTOS1) [MIM:117550]
57288 Q96L73 (NSD1) G D 1955 - Disease: Sotos syndrome 1 (SOTOS1) [MIM:117550]
57289 Q96L73 (NSD1) R Q 1984 rs587784169 Disease: Sotos syndrome 1 (SOTOS1) [MIM:117550]
57290 Q96L73 (NSD1) Y C 1997 rs797045825 Disease: Sotos syndrome 1 (SOTOS1) [MIM:117550]
57291 Q96L73 (NSD1) R Q 2005 rs587784174 Disease: Sotos syndrome 1 (SOTOS1) [MIM:117550]
57292 Q96L73 (NSD1) R Q 2017 rs587784177 Disease: Sotos syndrome 1 (SOTOS1) [MIM:117550]
57293 Q96L73 (NSD1) R W 2017 rs587784176 Disease: Sotos syndrome 1 (SOTOS1) [MIM:117550]
57294 Q96L73 (NSD1) H Q 2143 rs121908068 Disease: Sotos syndrome 1 (SOTOS1) [MIM:117550]
57295 Q96L73 (NSD1) C S 2183 rs121908069 Disease: Sotos syndrome 1 (SOTOS1) [MIM:117550]
57296 Q96L73 (NSD1) M I 2250 rs35848863 Benign
57297 Q96L73 (NSD1) M T 2261 rs34165241 Benign
57298 Q96L91 (EP400) T I 1308 rs13377636 Benign
57299 Q96L92 (SNX27) E K 459 rs11204871 Benign
57300 Q96L93 (KIF16B) G R 810 rs2236145 Benign
57301 Q96L93 (KIF16B) R S 824 rs2236144 Benign
57302 Q96L93 (KIF16B) K N 999 rs8116503 Benign
57303 Q96L93 (KIF16B) M T 1027 rs6034464 Benign
57304 Q96L93 (KIF16B) N S 1119 rs8123195 Benign
57305 Q96L96 (ALPK3) R H 336 rs34407151 Benign
57306 Q96L96 (ALPK3) T I 338 rs56015306 Benign
57307 Q96L96 (ALPK3) T S 414 rs3803403 Benign
57308 Q96L96 (ALPK3) G E 579 rs3803405 Benign
57309 Q96L96 (ALPK3) Q R 602 rs55702300 Benign
57310 Q96L96 (ALPK3) G D 663 rs34409363 Benign
57311 Q96L96 (ALPK3) T M 761 rs16974569 Benign
57312 Q96L96 (ALPK3) R L 836 rs34906636 Benign
57313 Q96L96 (ALPK3) E D 929 rs56191073 Benign
57314 Q96L96 (ALPK3) E K 1013 rs35633849 Benign
57315 Q96L96 (ALPK3) A G 1137 rs34173528 Benign
57316 Q96L96 (ALPK3) P L 1299 rs306197 Benign
57317 Q96L96 (ALPK3) R W 1412 rs55752937 Benign
57318 Q96L96 (ALPK3) A D 1557 rs34775428 Benign
57319 Q96L96 (ALPK3) L P 1622 rs187316 Benign
57320 Q96L96 (ALPK3) A V 1873 rs36002219 Benign
57321 Q96LA5 (FCRL2) I N 202 rs16839100 Benign
57322 Q96LA6 (FCRL1) V M 124 rs12078586 Benign
57323 Q96LA8 (PRMT6) A V 194 rs2232016 Benign
57324 Q96LA9 (MRGPRX4) F L 8 rs2468774 Benign
57325 Q96LA9 (MRGPRX4) N K 25 rs2445180 Benign
57326 Q96LA9 (MRGPRX4) Y C 54 rs1869788 Benign
57327 Q96LA9 (MRGPRX4) L S 83 rs2445179 Benign
57328 Q96LA9 (MRGPRX4) A V 182 rs11024532 Benign
57329 Q96LA9 (MRGPRX4) N S 245 rs7102322 Benign
57330 Q96LB0 (MRGPRX3) C R 82 rs12291017 Benign
57331 Q96LB0 (MRGPRX3) N D 169 rs4274188 Benign
57332 Q96LB1 (MRGPRX2) N H 16 rs11024970 Benign
57333 Q96LB1 (MRGPRX2) V I 43 rs11823569 Benign
57334 Q96LB1 (MRGPRX2) N S 62 rs10833049 Benign
57335 Q96LB1 (MRGPRX2) F L 78 rs79763999 Benign
57336 Q96LB2 (MRGPRX1) I V 36 rs11024885 Benign
57337 Q96LB2 (MRGPRX1) A T 46 rs78179510 Benign
57338 Q96LB2 (MRGPRX1) R L 55 rs55954376 Benign
57339 Q96LB2 (MRGPRX1) R S 131 rs111448117 Benign
57340 Q96LB2 (MRGPRX1) H R 133 rs140351170 Benign
57341 Q96LB2 (MRGPRX1) H R 137 rs143702818 Benign
57342 Q96LB2 (MRGPRX1) F L 273 rs137866403 Benign
57343 Q96LB3 (IFT74) I M 55 rs10812505 Benign
57344 Q96LB3 (IFT74) K R 85 rs11555693 Benign
57345 Q96LB3 (IFT74) T A 110 rs12004404 Benign
57346 Q96LB3 (IFT74) F L 224 rs17694549 Benign
57347 Q96LB3 (IFT74) N T 355 rs34628525 Benign
57348 Q96LB3 (IFT74) V M 579 rs138591335 Benign
57349 Q96LB3 (IFT74) T I 597 rs3429 Benign
57350 Q96LB4 (ATP6V1G3) E Q 54 rs16843254 Benign
57351 Q96LB8 (PGLYRP4) P L 3 rs12096209 Benign
57352 Q96LB8 (PGLYRP4) I L 13 rs3006458 Benign
57353 Q96LB8 (PGLYRP4) Q R 92 rs3006453 Benign
57354 Q96LB8 (PGLYRP4) G V 192 rs3006448 Benign
57355 Q96LB8 (PGLYRP4) V I 213 rs12063091 Benign
57356 Q96LB8 (PGLYRP4) D N 301 rs35347202 Benign
57357 Q96LB9 (PGLYRP3) A T 35 rs55991125 Benign
57358 Q96LB9 (PGLYRP3) G S 126 rs843971 Benign
57359 Q96LC7 (SIGLEC10) A V 226 rs9304711 Benign
57360 Q96LC7 (SIGLEC10) R S 520 rs1833785 Benign
57361 Q96LD4 (TRIM47) E A 500 rs1047043 Benign
57362 Q96LD8 (SENP8) T A 207 rs930871 Benign
57363 Q96LI9 (CXorf58) R C 24 rs2707164 Benign
57364 Q96LI9 (CXorf58) R H 187 rs16982852 Benign
57365 Q96LJ7 (DHRS1) T I 241 rs10134537 Benign
57366 Q96LK8 (SPATA32) V M 142 rs11651968 Benign
57367 Q96LL4 (C8orf48) S F 28 rs13273355 Benign
57368 Q96LL4 (C8orf48) L M 285 rs11203497 Benign
57369 Q96LL9 (DNAJC30) G R 34 rs1128349 Benign
57370 Q96LL9 (DNAJC30) F L 167 rs13244259 Benign
57371 Q96LM5 (C4orf45) A V 46 rs17037864 Benign
57372 Q96LM5 (C4orf45) S G 75 rs662473 Benign
57373 Q96LM5 (C4orf45) Y C 84 rs17037858 Benign
57374 Q96LM5 (C4orf45) G E 93 rs619128 Benign
57375 Q96LM5 (C4orf45) R H 134 rs10517695 Benign
57376 Q96LM6 (TEX37) D N 24 rs35750657 Benign
57377 Q96LM9 (C20orf173) K E 141 rs7261862 Benign
57378 Q96LP2 (FAM81B) R G 150 rs10042271 Benign
57379 Q96LP2 (FAM81B) A V 187 rs11555275 Benign
57380 Q96LP2 (FAM81B) R Q 239 rs1541797 Benign
57381 Q96LP2 (FAM81B) S P 275 rs6878669 Benign
57382 Q96LP6 (C12orf42) E D 11 rs10778257 Benign
57383 Q96LP6 (C12orf42) P R 182 rs7484376 Benign
57384 Q96LQ0 (PPP1R36) T I 83 rs6573560 Benign
57385 Q96LQ0 (PPP1R36) F L 267 rs45482504 Benign
57386 Q96LS8 (C2orf48) P L 90 rs13406078 Benign
57387 Q96LS8 (C2orf48) W S 119 rs7423163 Benign
57388 Q96LT6 (C1orf74) L F 146 rs7550857 Benign
57389 Q96LT7 (C9orf72) N S 207 rs17769294 Benign
57390 Q96LT9 (RNPC3) P T 474 rs370930012 Disease: Growth hormone deficiency, isolated, 5 (IGHD5) [MIM:618160]
57391 Q96LU7 (MYRFL) S L 723 rs35051828 Benign
57392 Q96LU7 (MYRFL) A S 753 rs11177991 Benign
57393 Q96LU7 (MYRFL) L M 845 rs10879065 Benign
57394 Q96LW4 (PRIMPOL) R Q 168 rs2463447 Benign
57395 Q96LW4 (PRIMPOL) T K 505 rs14969 Benign
57396 Q96LW9 (ZSCAN31) T S 50 rs853678 Benign
57397 Q96LW9 (ZSCAN31) A P 128 rs6922302 Benign
57398 Q96LW9 (ZSCAN31) K R 205 rs853684 Benign
57399 Q96LW9 (ZSCAN31) R Q 222 rs34223404 Benign
57400 Q96LW9 (ZSCAN31) G E 365 rs2394051 Benign
57401 Q96LX7 (CCDC17) P L 353 rs3014242 Benign
57402 Q96LX7 (CCDC17) V I 470 rs17410855 Benign
57403 Q96LX7 (CCDC17) I V 557 rs2297654 Benign
57404 Q96LX7 (CCDC17) S N 580 rs3014246 Benign
57405 Q96LX8 (ZNF597) T S 30 rs2270493 Benign
57406 Q96LY2 (CCDC74B) T M 169 rs184349150 Benign
57407 Q96LY2 (CCDC74B) R H 346 rs3177472 Benign
57408 Q96LZ2 (MAGEB10) F S 50 rs1368769 Benign
57409 Q96LZ2 (MAGEB10) R Q 65 rs12557898 Benign
57410 Q96LZ7 (RMDN2) G D 259 rs4670800 Benign
57411 Q96M02 (C10orf90) M I 57 rs11558415 Benign
57412 Q96M02 (C10orf90) R H 134 rs11245008 Benign
57413 Q96M02 (C10orf90) D N 262 rs11245007 Benign
57414 Q96M02 (C10orf90) D E 531 rs12412320 Benign
57415 Q96M11 (HYLS1) C R 31 rs667782 Benign
57416 Q96M11 (HYLS1) D G 211 rs104894232 Disease: Hydrolethalu s syndrome 1 (HLS1) [MIM:236680]
57417 Q96M20 (CNBD2) R H 37 rs17347958 Benign
57418 Q96M20 (CNBD2) T A 208 rs6142471 Benign
57419 Q96M20 (CNBD2) P S 375 rs6060750 Benign
57420 Q96M29 (TEKT5) A T 59 rs16957557 Benign
57421 Q96M29 (TEKT5) H R 196 rs16957546 Benign
57422 Q96M29 (TEKT5) M T 239 rs17684500 Benign
57423 Q96M29 (TEKT5) Q R 315 rs2719710 Benign
57424 Q96M32 (AK7) R Q 102 rs2275554 Benign
57425 Q96M32 (AK7) N K 389 rs2369679 Benign
57426 Q96M32 (AK7) L P 673 rs116298211 Disease: Spermatogeni c failure 27 (SPGF27) [MIM:617965]
57427 Q96M34 (TEX55) N T 45 rs4687838 Benign
57428 Q96M34 (TEX55) D G 99 rs11550908 Benign
57429 Q96M34 (TEX55) Q H 193 rs9859242 Benign
57430 Q96M34 (TEX55) G S 312 rs4077930 Benign
57431 Q96M34 (TEX55) S L 447 rs56317615 Benign
57432 Q96M34 (TEX55) D E 473 rs9289122 Benign
57433 Q96M53 (TBATA) R Q 237 rs2254174 Benign
57434 Q96M61 (MAGEB18) P S 40 rs5944317 Benign
57435 Q96M63 (CCDC114) R H 329 rs35361179 Benign
57436 Q96M63 (CCDC114) P L 468 rs35461177 Benign
57437 Q96M66 (-) R H 37 rs350229 Benign
57438 Q96M66 (-) R S 171 rs11648228 Benign
57439 Q96M69 (LRGUK) D Y 302 rs17167553 Benign
57440 Q96M69 (LRGUK) A V 661 rs35149449 Benign
57441 Q96M78 (FER1L6-AS) L S 92 rs13258808 Benign
57442 Q96M83 (CCDC7) K Q 148 rs56391924 Benign
57443 Q96M83 (CCDC7) K T 449 rs12268559 Benign
57444 Q96M83 (CCDC7) G A 1117 rs4448627 Benign
57445 Q96M83 (CCDC7) M T 1267 rs2504011 Benign
57446 Q96M83 (CCDC7) V I 1364 rs1418538 Benign
57447 Q96M86 (DNHD1) V E 240 rs2555158 Benign
57448 Q96M86 (DNHD1) Q P 279 rs11605196 Benign
57449 Q96M86 (DNHD1) D N 317 rs2555152 Benign
57450 Q96M86 (DNHD1) F L 403 rs11040904 Benign
57451 Q96M86 (DNHD1) H Y 418 rs4758423 Benign
57452 Q96M86 (DNHD1) Q E 560 rs11603869 Benign
57453 Q96M86 (DNHD1) R C 1358 rs12574381 Benign
57454 Q96M86 (DNHD1) K N 1896 rs16915277 Benign
57455 Q96M86 (DNHD1) F L 2041 rs11825154 Benign
57456 Q96M86 (DNHD1) R H 3830 rs10769699 Benign
57457 Q96M86 (DNHD1) I T 4666 rs11604362 Benign
57458 Q96M89 (CCDC138) D Y 99 rs35794776 Benign
57459 Q96M89 (CCDC138) R K 115 rs6740879 Benign
57460 Q96M91 (CFAP53) R C 231 rs12607385 Benign
57461 Q96M91 (CFAP53) E K 294 rs35193847 Benign
57462 Q96M95 (CCDC42) T P 51 rs12952995 Benign
57463 Q96M95 (CCDC42) R C 75 rs9893451 Benign
57464 Q96M95 (CCDC42) A T 144 rs2288156 Benign
57465 Q96M96 (FGD4) M R 298 rs63749871 Disease: Charcot- Marie-Tooth disease 4H (CMT4H) [MIM:609311]
57466 Q96M96 (FGD4) M T 298 rs63749871 Disease: Charcot- Marie-Tooth disease 4H (CMT4H) [MIM:609311]
57467 Q96MA6 (AK8) I T 5 rs2231400 Benign
57468 Q96MA6 (AK8) D G 130 rs17407084 Benign
57469 Q96MC2 (DRC1) K E 357 rs3795958 Benign
57470 Q96MC2 (DRC1) W R 399 rs939820 Benign
57471 Q96MC2 (DRC1) V F 633 rs12623642 Benign
57472 Q96MC2 (DRC1) S I 702 rs3172008 Benign
57473 Q96MC2 (DRC1) V M 734 rs35313480 Benign
57474 Q96MC9 (C1orf147) G A 213 rs2336940 Benign
57475 Q96MC9 (C1orf147) P S 233 rs11118256 Benign
57476 Q96MC9 (C1orf147) T M 259 rs17024805 Benign
57477 Q96MD2 (C12orf66) M I 139 rs2335390 Benign
57478 Q96MD2 (C12orf66) A S 443 rs699638 Benign
57479 Q96ME1 (FBXL18) N K 552 rs33941092 Benign
57480 Q96MF2 (STAC3) W S 284 rs140291094 Disease: Myopathy, congenital, Bailey-Bloch (MYPBB) [MIM:255995]
57481 Q96MF6 (COQ10A) P H 79 rs11543258 Benign
57482 Q96MF6 (COQ10A) P S 231 rs3184994 Benign
57483 Q96MF7 (NSMCE2) V A 66 rs11542104 Benign
57484 Q96MG2 (JSRP1) V A 92 rs10426549 Benign
57485 Q96MG2 (JSRP1) P L 108 rs74521370 Benign
57486 Q96MG2 (JSRP1) G A 150 rs80043033 Benign
57487 Q96MG2 (JSRP1) R Q 233 rs35356610 Benign
57488 Q96MG7 (NSMCE3) P L 209 rs886037827 Disease: Lung disease, immunodefici ency, and chromosome breakage syndrome (LICS) [MIM:617241]
57489 Q96MG7 (NSMCE3) L F 264 rs199905054 Disease: Lung disease, immunodefici ency, and chromosome breakage syndrome (LICS) [MIM:617241]
57490 Q96MG8 (PCMTD1) N I 312 rs12335014 Benign
57491 Q96MH7 (C5orf34) T S 32 rs6872851 Benign
57492 Q96MI9 (AGBL1) P L 463 rs8029810 Benign
57493 Q96MI9 (AGBL1) S P 481 rs11857527 Benign
57494 Q96MI9 (AGBL1) C S 1036 rs181958589 Disease: Corneal dystrophy, Fuchs endothelial, 8 (FECD8) [MIM:615523]
57495 Q96MI9 (AGBL1) Q R 1056 rs8028043 Benign
57496 Q96MK2 (RIPOR3) C S 566 rs35965508 Benign
57497 Q96MK2 (RIPOR3) L P 580 rs6020624 Benign
57498 Q96MK3 (FAM20A) L R 173 - Disease: Amelogenesis imperfecta 1G (AI1G) [MIM:204690]
57499 Q96MK3 (FAM20A) G D 331 rs981673034 Disease: Amelogenesis imperfecta 1G (AI1G) [MIM:204690]
57500 Q96MK3 (FAM20A) N K 332 rs2302234 Benign
57501 Q96MK3 (FAM20A) D N 403 rs377432171 Disease: Amelogenesis imperfecta 1G (AI1G) [MIM:204690]
57502 Q96MK3 (FAM20A) L S 530 rs2907373 Benign
57503 Q96MM6 (HSPA12B) V L 23 rs34414870 Benign
57504 Q96MM6 (HSPA12B) R H 270 rs6139194 Benign
57505 Q96MM7 (HS6ST2) K N 127 rs7053397 Benign
57506 Q96MN2 (NLRP4) A T 144 rs441827 Benign
57507 Q96MN2 (NLRP4) E D 383 rs17857373 Benign
57508 Q96MN2 (NLRP4) P Q 390 rs17857374 Benign
57509 Q96MN2 (NLRP4) R H 708 rs12462372 Benign
57510 Q96MN2 (NLRP4) L M 774 rs17854614 Benign
57511 Q96MN2 (NLRP4) Q L 925 rs302453 Benign
57512 Q96MN9 (ZNF488) A V 72 rs35618062 Benign
57513 Q96MN9 (ZNF488) P L 106 rs12251609 Benign
57514 Q96MN9 (ZNF488) P S 249 rs3814160 Benign
57515 Q96MP5 (ZSWIM3) V A 259 rs2903808 Benign
57516 Q96MP5 (ZSWIM3) R W 291 rs35928298 Benign
57517 Q96MP8 (KCTD7) R W 84 rs754476100 Disease: -
57518 Q96MP8 (KCTD7) R W 94 rs387907260 Disease: Epilepsy, progressive myoclonic 3, with or without intracellula r inclusions (EPM3) [MIM:611726]
57519 Q96MP8 (KCTD7) L M 108 rs387907263 Disease: Epilepsy, progressive myoclonic 3, with or without intracellula r inclusions (EPM3) [MIM:611726]
57520 Q96MP8 (KCTD7) R C 184 rs387907246 Disease: Epilepsy, progressive myoclonic 3, with or without intracellula r inclusions (EPM3) [MIM:611726]
57521 Q96MP8 (KCTD7) N I 273 rs387907261 Disease: Epilepsy, progressive myoclonic 3, with or without intracellula r inclusions (EPM3) [MIM:611726]
57522 Q96MR6 (CFAP57) A S 183 rs6663799 Benign
57523 Q96MR6 (CFAP57) N D 241 rs663824 Benign
57524 Q96MR6 (CFAP57) C S 345 rs11210805 Benign
57525 Q96MR9 (ZNF560) Y C 630 rs10416098 Benign
57526 Q96MS0 (ROBO3) L P 5 rs121918275 Disease: Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313]
57527 Q96MS0 (ROBO3) I L 66 rs121918276 Disease: Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313]
57528 Q96MS0 (ROBO3) E K 319 rs121918274 Disease: Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313]
57529 Q96MS0 (ROBO3) G E 361 rs121918270 Disease: Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313]
57530 Q96MS0 (ROBO3) R H 416 rs3862618 Benign
57531 Q96MS0 (ROBO3) V M 423 rs4935898 Benign
57532 Q96MS0 (ROBO3) R P 703 rs121918271 Disease: Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313]
57533 Q96MS0 (ROBO3) S P 705 rs121918272 Disease: Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313]
57534 Q96MS0 (ROBO3) P L 868 rs55706177 Benign
57535 Q96MS0 (ROBO3) Q R 1369 rs35723495 Benign
57536 Q96MT3 (PRICKLE1) I T 69 rs141795695 Benign
57537 Q96MT3 (PRICKLE1) N H 81 rs796052934 Benign
57538 Q96MT3 (PRICKLE1) R Q 104 rs113994140 Disease: Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437]
57539 Q96MT3 (PRICKLE1) V I 121 rs371720624 Benign
57540 Q96MT3 (PRICKLE1) A T 124 rs79087668 Benign
57541 Q96MT3 (PRICKLE1) R H 144 rs281865563 Disease: Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437]
57542 Q96MT3 (PRICKLE1) T M 275 rs559947948 Benign
57543 Q96MT3 (PRICKLE1) Y H 472 rs281865564 Disease: Epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437]
57544 Q96MT3 (PRICKLE1) R C 682 rs768954477 Benign
57545 Q96MT3 (PRICKLE1) S F 739 rs138452760 Benign
57546 Q96MT3 (PRICKLE1) P S 746 rs3827522 Benign
57547 Q96MT3 (PRICKLE1) D N 771 rs146670726 Benign
57548 Q96MT4 (LINC01600) I F 2 rs17135340 Benign
57549 Q96MT4 (LINC01600) P S 43 rs9503233 Benign
57550 Q96MT7 (CFAP44) K E 53 rs59722850 Benign
57551 Q96MT7 (CFAP44) K N 284 rs16845107 Benign
57552 Q96MT8 (CEP63) S L 651 rs1127826 Benign
57553 Q96MU5 (C17orf77) R S 47 rs493430 Benign
57554 Q96MU6 (ZNF778) N D 683 rs55974122 Benign
57555 Q96MU7 (YTHDC1) H R 183 rs3813832 Benign
57556 Q96MU8 (KREMEN1) F S 207 rs1057524917 Disease: Ectodermal dysplasia 13, hair/tooth type (ECTD13) [MIM:617392]
57557 Q96MW5 (COG8) L R 517 rs3027 Benign
57558 Q96MX3 (ZNF48) Q R 21 rs7200143 Benign
57559 Q96MX3 (ZNF48) A V 65 rs12921440 Benign
57560 Q96MX3 (ZNF48) I V 224 rs34843513 Benign
57561 Q96MX6 (WDR92) M V 241 rs13009282 Benign
57562 Q96MY7 (FAM161B) G A 11 rs11848954 Benign
57563 Q96MY7 (FAM161B) K R 487 rs28927675 Benign
57564 Q96MY7 (FAM161B) L P 622 rs17094077 Benign
57565 Q96MZ4 (FAM218A) H R 54 rs3733418 Benign
57566 Q96N06 (SPATA33) S L 45 rs13329897 Benign
57567 Q96N11 (C7orf26) R C 245 rs35534502 Benign
57568 Q96N16 (JAKMIP1) K R 251 rs772311401 Benign
57569 Q96N20 (ZNF75A) V A 84 rs17611866 Benign
57570 Q96N22 (ZNF681) D H 84 rs7248674 Benign
57571 Q96N22 (ZNF681) L S 295 rs1818989 Benign
57572 Q96N22 (ZNF681) R K 367 rs1818990 Benign
57573 Q96N22 (ZNF681) H Q 548 rs1852433 Benign
57574 Q96N23 (CFAP54) P S 11 rs3809197 Benign
57575 Q96N23 (CFAP54) T A 558 rs2160501 Benign
57576 Q96N23 (CFAP54) L F 562 rs2160502 Benign
57577 Q96N38 (ZNF714) K R 331 rs2884554 Benign
57578 Q96N38 (ZNF714) I V 472 rs10427116 Benign
57579 Q96N38 (ZNF714) I V 473 rs10427116 Benign
57580 Q96N58 (ZNF578) E K 238 rs161931 Benign
57581 Q96N66 (MBOAT7) F L 261 rs17855385 Benign
57582 Q96N66 (MBOAT7) V L 415 rs35909464 Benign
57583 Q96N67 (DOCK7) I T 824 rs35400360 Benign
57584 Q96N76 (UROC1) L P 70 rs137852796 Disease: Urocanase deficiency (UROCD) [MIM:276880]
57585 Q96N76 (UROC1) R W 188 rs34488036 Benign
57586 Q96N76 (UROC1) S T 311 rs35062810 Benign
57587 Q96N76 (UROC1) R C 429 rs9871671 Benign
57588 Q96N76 (UROC1) R C 450 rs137852795 Disease: Urocanase deficiency (UROCD) [MIM:276880]
57589 Q96N77 (ZNF641) S C 231 rs17851618 Benign
57590 Q96N77 (ZNF641) Q P 363 rs2732481 Benign
57591 Q96N87 (SLC6A18) A D 4 rs34469326 Benign
57592 Q96N87 (SLC6A18) C S 12 rs7728667 Benign
57593 Q96N87 (SLC6A18) T I 32 rs7705355 Benign
57594 Q96N87 (SLC6A18) G S 79 rs113861454 Benign
57595 Q96N87 (SLC6A18) P L 478 rs4073918 Benign
57596 Q96N87 (SLC6A18) G R 496 rs147278493 Benign
57597 Q96N95 (ZNF396) H L 211 rs9963473 Benign
57598 Q96N96 (SPATA13) R W 20 rs7330736 Benign
57599 Q96NA2 (RILP) A T 81 rs9909321 Benign
57600 Q96NA2 (RILP) R Q 281 rs34982553 Benign
57601 Q96NA8 (TSNARE1) F L 18 rs7814359 Benign
57602 Q96NA8 (TSNARE1) R P 55 rs33970858 Benign
57603 Q96NA8 (TSNARE1) T A 118 rs10100935 Benign
57604 Q96NA8 (TSNARE1) V I 268 rs10435683 Benign
57605 Q96NB3 (ZNF830) I V 16 rs8073825 Benign
57606 Q96NB3 (ZNF830) S P 93 rs8078059 Benign
57607 Q96NB3 (ZNF830) H Q 99 rs931196 Benign
57608 Q96NB3 (ZNF830) F L 135 rs8078217 Benign
57609 Q96NB3 (ZNF830) S T 154 rs3744355 Benign
57610 Q96ND0 (FAM210A) Y N 39 rs35493157 Benign
57611 Q96ND0 (FAM210A) E K 167 rs2847146 Benign
57612 Q96ND8 (ZNF583) F I 324 rs12976917 Benign
57613 Q96NF6 (C8orf49) R G 26 rs804285 Benign
57614 Q96NF6 (C8orf49) I V 81 rs809204 Benign
57615 Q96NF6 (C8orf49) R G 95 rs13281294 Benign
57616 Q96NG3 (TTC25) P S 4 rs34516580 Benign
57617 Q96NG3 (TTC25) A G 18 rs35516909 Benign
57618 Q96NG8 (ZNF582) R T 69 rs11883260 Benign
57619 Q96NH3 (TBC1D32) R Q 82 rs7767455 Benign
57620 Q96NH3 (TBC1D32) I V 280 rs9490157 Benign
57621 Q96NH3 (TBC1D32) T K 375 rs9387944 Benign
57622 Q96NH3 (TBC1D32) I V 599 rs7745023 Benign
57623 Q96NJ3 (ZNF285) N S 208 rs2571089 Benign
57624 Q96NJ3 (ZNF285) R G 536 rs12610859 Benign
57625 Q96NJ5 (KLHL32) R C 5 rs35143662 Benign
57626 Q96NJ5 (KLHL32) N S 129 rs2294763 Benign
57627 Q96NJ5 (KLHL32) D G 146 rs12662753 Benign
57628 Q96NL0 (RUNDC3B) L M 47 rs17852065 Benign
57629 Q96NL0 (RUNDC3B) E G 206 rs17852063 Benign
57630 Q96NL0 (RUNDC3B) L P 440 rs17856673 Benign
57631 Q96NL3 (ZNF599) L F 178 rs146342141 Benign
57632 Q96NL6 (SCLT1) S C 441 rs10028124 Benign
57633 Q96NL8 (C8orf37) P A 19 rs36096184 Benign
57634 Q96NL8 (C8orf37) R W 177 rs387907136 Disease: Cone-rod dystrophy 16 (CORD16) [MIM:614500]
57635 Q96NL8 (C8orf37) Q R 182 rs387907137 Disease: Retinitis pigmentosa 64 (RP64) [MIM:614500]
57636 Q96NM4 (TOX2) V A 223 rs6103584 Benign
57637 Q96NN9 (AIFM3) S T 508 rs61356271 Benign
57638 Q96NR2 (MIR1-1HG-) I V 121 rs3934574 Benign
57639 Q96NR3 (PTCHD1) L F 73 rs373105249 Benign
57640 Q96NR3 (PTCHD1) R H 82 rs371935424 Benign
57641 Q96NR3 (PTCHD1) I V 173 rs147324438 Benign
57642 Q96NR3 (PTCHD1) V I 195 rs769407241 Benign
57643 Q96NR3 (PTCHD1) P L 251 - Benign
57644 Q96NR3 (PTCHD1) H R 359 rs1331109571 Benign
57645 Q96NR3 (PTCHD1) A D 470 - Benign
57646 Q96NR3 (PTCHD1) E G 479 - Benign
57647 Q96NR3 (PTCHD1) N K 497 rs35880456 Benign
57648 Q96NR3 (PTCHD1) V A 882 rs1393748204 Benign
57649 Q96NR8 (RDH12) A T 47 rs761231974 Benign
57650 Q96NR8 (RDH12) T M 49 rs28940314 Disease: Leber congenital amaurosis 13 (LCA13) [MIM:612712]
57651 Q96NR8 (RDH12) I N 51 rs104894473 Disease: Leber congenital amaurosis 13 (LCA13) [MIM:612712]
57652 Q96NR8 (RDH12) T M 55 rs766631462 Benign
57653 Q96NR8 (RDH12) R Q 65 rs745471670 Benign
57654 Q96NR8 (RDH12) G R 76 rs368489658 Disease: Retinitis pigmentosa 53 (RP53) [MIM:612712]
57655 Q96NR8 (RDH12) A V 79 rs763414313 Benign
57656 Q96NR8 (RDH12) L I 99 rs28940315 Disease: Leber congenital amaurosis 13 (LCA13) [MIM:612712]
57657 Q96NR8 (RDH12) D N 101 rs148334092 Benign
57658 Q96NR8 (RDH12) A V 126 rs202126574 Disease: Retinitis pigmentosa 53 (RP53) [MIM:612712]
57659 Q96NR8 (RDH12) G E 145 rs907600014 Benign
57660 Q96NR8 (RDH12) H D 151 rs104894475 Disease: Leber congenital amaurosis 13 (LCA13) [MIM:612712]
57661 Q96NR8 (RDH12) H N 151 rs104894475 Disease: Leber congenital amaurosis 13 (LCA13) [MIM:612712]
57662 Q96NR8 (RDH12) T I 155 rs121434337 Benign
57663 Q96NR8 (RDH12) R Q 161 rs17852293 Benign
57664 Q96NR8 (RDH12) S P 175 rs104894472 Disease: Leber congenital amaurosis 13 (LCA13) [MIM:612712]
57665 Q96NR8 (RDH12) Y C 226 rs28940313 Disease: Leber congenital amaurosis 13 (LCA13) [MIM:612712]
57666 Q96NR8 (RDH12) P A 230 rs104894476 Disease: Leber congenital amaurosis 13 (LCA13) [MIM:612712]
57667 Q96NR8 (RDH12) R W 239 rs751589863 Benign
57668 Q96NR8 (RDH12) C Y 285 rs973306929 Benign
57669 Q96NS5 (ASB16) T I 240 rs7224330 Benign
57670 Q96NT0 (CCDC115) D Y 11 rs869025583 Disease: Congenital disorder of glycosylatio n 2O (CDG2O) [MIM:616828]
57671 Q96NT0 (CCDC115) L S 31 rs751325113 Disease: Congenital disorder of glycosylatio n 2O (CDG2O) [MIM:616828]
57672 Q96NT1 (NAP1L5) E Q 154 rs13109442 Benign
57673 Q96NT5 (SLC46A1) R C 113 rs80338770 Disease: Hereditary folate malabsorptio n (HFM) [MIM:229050]
57674 Q96NT5 (SLC46A1) R S 113 rs80338770 Disease: Hereditary folate malabsorptio n (HFM) [MIM:229050]
57675 Q96NT5 (SLC46A1) G R 147 rs80338771 Disease: Hereditary folate malabsorptio n (HFM) [MIM:229050]
57676 Q96NT5 (SLC46A1) D Y 156 rs281875210 Disease: Hereditary folate malabsorptio n (HFM) [MIM:229050]
57677 Q96NT5 (SLC46A1) T A 295 rs34552966 Benign
57678 Q96NT5 (SLC46A1) S R 318 rs80338772 Disease: Hereditary folate malabsorptio n (HFM) [MIM:229050]
57679 Q96NT5 (SLC46A1) A D 335 rs281875208 Disease: Hereditary folate malabsorptio n (HFM) [MIM:229050]
57680 Q96NT5 (SLC46A1) G R 338 rs281875209 Disease: Hereditary folate malabsorptio n (HFM) [MIM:229050]
57681 Q96NT5 (SLC46A1) R Q 376 rs281875211 Disease: Hereditary folate malabsorptio n (HFM) [MIM:229050]
57682 Q96NT5 (SLC46A1) R W 376 rs80338773 Disease: Hereditary folate malabsorptio n (HFM) [MIM:229050]
57683 Q96NT5 (SLC46A1) P R 425 rs80338774 Disease: Hereditary folate malabsorptio n (HFM) [MIM:229050]
57684 Q96NU7 (AMDHD1) S G 3 rs7955450 Benign
57685 Q96NU7 (AMDHD1) P H 360 rs17024904 Benign
57686 Q96NW4 (ANKRD27) S G 657 rs2287669 Benign
57687 Q96NW4 (ANKRD27) P R 761 rs2302970 Benign
57688 Q96NW7 (LRRC7) H Y 1054 rs12069888 Benign
57689 Q96NX5 (CAMK1G) E Q 259 rs35561962 Benign
57690 Q96NX5 (CAMK1G) V I 329 rs11119315 Benign
57691 Q96NY7 (CLIC6) D G 632 rs3171439 Benign
57692 Q96NY8 (NECTIN4) F L 53 rs3737786 Benign
57693 Q96NY8 (NECTIN4) T M 185 rs267606992 Disease: Ectodermal dysplasia- syndactyly syndrome 1 (EDSS1) [MIM:613573]
57694 Q96NY9 (MUS81) R H 37 rs13817 Benign
57695 Q96NY9 (MUS81) S F 115 rs34381357 Benign
57696 Q96NY9 (MUS81) R P 180 rs545500 Benign
57697 Q96NY9 (MUS81) L F 189 rs2298447 Benign
57698 Q96NY9 (MUS81) R W 350 rs34891773 Benign
57699 Q96NY9 (MUS81) Q H 481 rs765593 Benign
57700 Q96NZ1 (FOXN4) P L 137 rs11609341 Benign
57701 Q96NZ9 (PRAP1) E G 54 - Benign
57702 Q96NZ9 (PRAP1) K R 69 - Benign
57703 Q96NZ9 (PRAP1) G S 81 rs34780987 Benign
57704 Q96NZ9 (PRAP1) H R 101 rs4369319 Benign
57705 Q96P09 (BIRC8) A T 156 rs35880972 Benign
57706 Q96P09 (BIRC8) L S 165 rs34092035 Benign
57707 Q96P09 (BIRC8) H Y 196 rs8109165 Benign
57708 Q96P09 (BIRC8) A T 225 rs35700345 Benign
57709 Q96P09 (BIRC8) A V 225 rs34683072 Benign
57710 Q96P11 (NSUN5) P S 183 rs34913552 Benign
57711 Q96P15 (SERPINB11) A E 51 rs1395268 Benign
57712 Q96P15 (SERPINB11) M T 148 rs17071550 Benign
57713 Q96P15 (SERPINB11) I A 181 - Benign
57714 Q96P15 (SERPINB11) I T 181 - Benign
57715 Q96P15 (SERPINB11) R W 188 rs1506419 Benign
57716 Q96P15 (SERPINB11) I T 293 rs1395266 Benign
57717 Q96P15 (SERPINB11) P S 303 rs1395267 Benign
57718 Q96P15 (SERPINB11) I T 354 rs34811964 Benign
57719 Q96P20 (NLRP3) D H 21 rs200154873 Disease: Keratoendoth elitis fugax hereditaria (KEFH) [MIM:148200]
57720 Q96P20 (NLRP3) I T 174 rs180177449 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57721 Q96P20 (NLRP3) V M 200 rs121908147 Disease: Muckle-Wells syndrome (MWS) [MIM:191900]
57722 Q96P20 (NLRP3) R L 262 rs180177442 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57723 Q96P20 (NLRP3) R P 262 rs180177442 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57724 Q96P20 (NLRP3) R W 262 rs121908150 Disease: Muckle-Wells syndrome (MWS) [MIM:191900]
57725 Q96P20 (NLRP3) L H 266 rs180177436 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57726 Q96P20 (NLRP3) D G 305 rs180177447 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57727 Q96P20 (NLRP3) D N 305 rs121908153 Disease: Muckle-Wells syndrome (MWS) [MIM:191900]
57728 Q96P20 (NLRP3) L P 307 rs180177431 Disease: Muckle-Wells syndrome (MWS) [MIM:191900]
57729 Q96P20 (NLRP3) Q K 308 rs180177432 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57730 Q96P20 (NLRP3) F S 311 rs121908154 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57731 Q96P20 (NLRP3) T M 350 rs151344629 Disease: Muckle-Wells syndrome (MWS) [MIM:191900]
57732 Q96P20 (NLRP3) A V 354 rs121908149 Disease: Muckle-Wells syndrome (MWS) [MIM:191900]
57733 Q96P20 (NLRP3) L P 355 rs28937896 Disease: Familial cold autoinflamma tory syndrome 1 (FCAS1) [MIM:120100]
57734 Q96P20 (NLRP3) E D 356 rs180177444 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57735 Q96P20 (NLRP3) H R 360 rs180177434 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57736 Q96P20 (NLRP3) T P 407 rs180177445 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57737 Q96P20 (NLRP3) T I 438 rs180177433 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57738 Q96P20 (NLRP3) T N 438 rs180177433 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57739 Q96P20 (NLRP3) A T 441 rs180177430 Disease: Muckle-Wells syndrome (MWS) [MIM:191900]
57740 Q96P20 (NLRP3) A V 441 rs121908146 Disease: Familial cold autoinflamma tory syndrome 1 (FCAS1) [MIM:120100]
57741 Q96P20 (NLRP3) R K 490 rs145268073 Disease: Familial cold autoinflamma tory syndrome 1 (FCAS1) [MIM:120100]
57742 Q96P20 (NLRP3) F C 525 rs180177478 Disease: Familial cold autoinflamma tory syndrome 1 (FCAS1) [MIM:120100]
57743 Q96P20 (NLRP3) F L 525 rs180177439 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57744 Q96P20 (NLRP3) G R 571 rs121908151 Disease: Muckle-Wells syndrome (MWS) [MIM:191900]
57745 Q96P20 (NLRP3) Y C 572 rs180177438 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57746 Q96P20 (NLRP3) F S 575 rs121908152 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57747 Q96P20 (NLRP3) E G 629 rs121908148 Disease: Familial cold autoinflamma tory syndrome 1 (FCAS1) [MIM:120100]
57748 Q96P20 (NLRP3) L F 634 rs180177446 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57749 Q96P20 (NLRP3) M T 664 rs180177435 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57750 Q96P20 (NLRP3) Q K 705 rs35829419 Benign
57751 Q96P20 (NLRP3) Y C 861 rs180177452 Disease: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
57752 Q96P31 (FCRL3) N D 28 rs7522061 Benign
57753 Q96P31 (FCRL3) L F 307 rs12041673 Benign
57754 Q96P31 (FCRL3) P L 660 rs944627 Benign
57755 Q96P31 (FCRL3) N S 721 rs2282284 Benign
57756 Q96P44 (COL21A1) L P 277 rs2764043 Benign
57757 Q96P44 (COL21A1) T M 343 rs35471617 Benign
57758 Q96P44 (COL21A1) I T 495 rs35583895 Benign
57759 Q96P44 (COL21A1) G S 560 rs9382581 Benign
57760 Q96P44 (COL21A1) A D 747 rs9464337 Benign
57761 Q96P44 (COL21A1) L P 821 rs12209452 Benign
57762 Q96P44 (COL21A1) P A 827 rs1555131 Benign
57763 Q96P48 (ARAP1) R Q 358 rs34976830 Benign
57764 Q96P48 (ARAP1) Q E 1047 rs56200889 Benign
57765 Q96P56 (CATSPER2) E G 8 rs2614835 Benign
57766 Q96P56 (CATSPER2) V I 57 rs8042868 Benign
57767 Q96P63 (SERPINB12) K E 227 rs35582068 Benign
57768 Q96P63 (SERPINB12) N T 289 rs35352345 Benign
57769 Q96P63 (SERPINB12) N S 338 rs11664907 Benign
57770 Q96P64 (AGAP4) K E 661 rs15718 Benign
57771 Q96P65 (QRFPR) F V 61 rs17438900 Benign
57772 Q96P65 (QRFPR) H Q 149 rs11947418 Benign
57773 Q96P65 (QRFPR) L S 344 rs2302310 Benign
57774 Q96P66 (GPR101) V L 124 rs1190736 Benign
57775 Q96P66 (GPR101) E D 308 rs73637412 Disease: Pituitary adenoma 2, growth hormone- secreting (PITA2) [MIM:300943]
57776 Q96P66 (GPR101) L P 376 rs5931046 Benign
57777 Q96P69 (GPR78) R S 201 rs17844778 Benign
57778 Q96P69 (GPR78) A T 330 rs11941659 Benign
57779 Q96P69 (GPR78) R H 342 rs9685931 Benign
57780 Q96P71 (NECAB3) P L 254 rs17124890 Benign
57781 Q96PB1 (CASD1) R S 386 rs17855797 Benign
57782 Q96PC2 (IP6K3) R W 60 rs34431226 Benign
57783 Q96PC2 (IP6K3) A V 308 rs34573836 Benign
57784 Q96PC2 (IP6K3) V I 312 rs4713668 Benign
57785 Q96PC2 (IP6K3) Y S 378 rs34343647 Benign
57786 Q96PC3 (AP1S3) F C 4 rs116107386 Disease: Psoriasis 15, pustular (PSORS15) [MIM:616106]
57787 Q96PC3 (AP1S3) Q K 17 rs750870128 Benign
57788 Q96PC3 (AP1S3) T A 22 rs149183052 Benign
57789 Q96PC3 (AP1S3) T I 32 rs78536455 Benign
57790 Q96PC3 (AP1S3) R W 33 rs138292988 Disease: Psoriasis 15, pustular (PSORS15) [MIM:616106]
57791 Q96PC3 (AP1S3) L V 79 rs34353588 Benign
57792 Q96PC3 (AP1S3) I T 83 rs202157374 Benign
57793 Q96PC3 (AP1S3) Q E 124 - Benign
57794 Q96PC5 (MIA2) K N 813 rs17855896 Benign
57795 Q96PC5 (MIA2) K E 858 rs10162564 Benign
57796 Q96PC5 (MIA2) E Q 968 rs1950952 Benign
57797 Q96PC5 (MIA2) N S 983 rs17109109 Benign
57798 Q96PC5 (MIA2) I V 1307 rs1140952 Benign
57799 Q96PC5 (MIA2) G R 1346 rs1060878 Benign
57800 Q96PD2 (DCBLD2) I M 144 rs9838238 Benign
57801 Q96PD2 (DCBLD2) D N 723 rs16840208 Benign
57802 Q96PD4 (IL17F) S L 95 rs748486078 Disease: Candidiasis, familial, 6 (CANDF6) [MIM:613956]
57803 Q96PD4 (IL17F) E G 126 rs2397084 Benign
57804 Q96PD4 (IL17F) V I 155 rs11465553 Benign
57805 Q96PD4 (IL17F) H R 161 rs763780 Benign
57806 Q96PD5 (PGLYRP2) T A 46 rs3813135 Benign
57807 Q96PD5 (PGLYRP2) R Q 99 rs733731 Benign
57808 Q96PD5 (PGLYRP2) T N 257 rs28404490 Benign
57809 Q96PD5 (PGLYRP2) M K 270 rs892145 Benign
57810 Q96PD5 (PGLYRP2) R Q 394 rs34440547 Benign
57811 Q96PD5 (PGLYRP2) R W 476 rs2304200 Benign
57812 Q96PD6 (MOGAT1) A T 13 rs35959734 Benign
57813 Q96PD6 (MOGAT1) S P 163 rs1868024 Benign
57814 Q96PD7 (DGAT2) R G 317 rs34421064 Benign
57815 Q96PD7 (DGAT2) M I 361 rs34113941 Benign
57816 Q96PE1 (ADGRA2) T K 375 - Benign
57817 Q96PE2 (ARHGEF17) G E 450 rs3741150 Benign
57818 Q96PE2 (ARHGEF17) A D 1465 rs2298808 Benign
57819 Q96PE3 (INPP4A) T A 604 rs2278206 Benign
57820 Q96PE6 (ZIM3) R K 7 rs10407445 Benign
57821 Q96PE6 (ZIM3) E K 28 rs2370134 Benign
57822 Q96PE6 (ZIM3) L M 69 rs4801200 Benign
57823 Q96PE6 (ZIM3) N D 157 rs7252632 Benign
57824 Q96PE6 (ZIM3) G R 205 rs35202951 Benign
57825 Q96PE6 (ZIM3) I V 379 rs4801433 Benign
57826 Q96PE7 (MCEE) A V 76 rs11541017 Benign
57827 Q96PE7 (MCEE) R L 104 rs6748672 Benign
57828 Q96PF2 (TSSK2) K R 27 rs3747052 Benign
57829 Q96PF2 (TSSK2) M V 61 rs35532431 Benign
57830 Q96PF2 (TSSK2) Y C 197 rs56279111 Benign
57831 Q96PF2 (TSSK2) E K 244 rs35048893 Benign
57832 Q96PF2 (TSSK2) C S 245 rs8140743 Benign
57833 Q96PF2 (TSSK2) T M 280 rs1052763 Benign
57834 Q96PG2 (MS4A10) P L 219 rs12419635 Benign
57835 Q96PH1 (NOX5) R H 576 rs2277552 Benign
57836 Q96PH1 (NOX5) R G 759 rs7168025 Benign
57837 Q96PH6 (DEFB118) I V 56 rs34173055 Benign
57838 Q96PI1 (SPRR4) P S 45 rs16834786 Benign
57839 Q96PJ5 (FCRL4) R Q 60 rs11582663 Benign
57840 Q96PJ5 (FCRL4) N S 255 rs4561035 Benign
57841 Q96PJ5 (FCRL4) K R 457 rs2039401 Benign
57842 Q96PJ5 (FCRL4) Y C 493 rs3811028 Benign
57843 Q96PL5 (ERMAP) A V 4 rs35757049 Benign
57844 Q96PL5 (ERMAP) H Y 26 rs33953680 Benign
57845 Q96PL5 (ERMAP) G S 35 rs146429994 Benign
57846 Q96PL5 (ERMAP) E K 47 rs56047316 Benign
57847 Q96PL5 (ERMAP) G R 57 rs56025238 Benign
57848 Q96PL5 (ERMAP) P A 60 rs56136737 Benign
57849 Q96PL5 (ERMAP) R Q 81 rs368064875 Benign
57850 Q96PL5 (ERMAP) C R 259 rs35147822 Benign
57851 Q96PL5 (ERMAP) G E 263 rs34441268 Benign
57852 Q96PN6 (ADCY10) T M 234 rs16859886 Benign
57853 Q96PN6 (ADCY10) I V 697 rs2071921 Benign
57854 Q96PN7 (TRERF1) T A 431 rs35162277 Benign
57855 Q96PN7 (TRERF1) V I 766 rs59159203 Benign
57856 Q96PN7 (TRERF1) C S 834 rs2295275 Benign
57857 Q96PN7 (TRERF1) N T 1019 rs35978318 Benign
57858 Q96PN7 (TRERF1) D N 1187 rs11751765 Benign
57859 Q96PN8 (TSSK3) I V 71 rs35508255 Benign
57860 Q96PN8 (TSSK3) A T 140 rs55786268 Benign
57861 Q96PN8 (TSSK3) S L 235 rs35457991 Benign
57862 Q96PP8 (GBP5) E Q 4 rs17130763 Benign
57863 Q96PP8 (GBP5) T M 35 rs3806339 Benign
57864 Q96PP9 (GBP4) K E 125 rs17130745 Benign
57865 Q96PP9 (GBP4) I V 379 rs1831240 Benign
57866 Q96PP9 (GBP4) Y N 541 rs655260 Benign
57867 Q96PP9 (GBP4) M I 542 rs1142886 Benign
57868 Q96PP9 (GBP4) M I 545 rs1142889 Benign
57869 Q96PP9 (GBP4) M L 545 rs1142888 Benign
57870 Q96PP9 (GBP4) E K 546 rs1142890 Benign
57871 Q96PP9 (GBP4) L M 549 rs608339 Benign
57872 Q96PP9 (GBP4) E G 551 rs561042 Benign
57873 Q96PP9 (GBP4) E K 551 rs561037 Benign
57874 Q96PQ0 (SORCS2) G R 345 rs34058821 Benign
57875 Q96PQ0 (SORCS2) T M 695 rs16840892 Benign
57876 Q96PQ0 (SORCS2) T I 745 rs16840899 Benign
57877 Q96PQ1 (SIGLEC12) P H 81 rs2034891 Benign
57878 Q96PQ1 (SIGLEC12) P T 81 rs2034891 Benign
57879 Q96PQ1 (SIGLEC12) A V 82 rs3810110 Benign
57880 Q96PQ1 (SIGLEC12) H Q 217 rs6509544 Benign
57881 Q96PQ1 (SIGLEC12) G R 218 rs6509544 Benign
57882 Q96PQ1 (SIGLEC12) H Y 398 rs11668530 Benign
57883 Q96PQ1 (SIGLEC12) T M 478 rs3829658 Benign
57884 Q96PQ1 (SIGLEC12) Y S 494 rs3752135 Benign
57885 Q96PQ1 (SIGLEC12) P Q 546 rs57043266 Benign
57886 Q96PQ1 (SIGLEC12) Y C 586 rs7245807 Benign
57887 Q96PQ6 (ZNF317) Q H 19 rs3752199 Benign
57888 Q96PQ7 (KLHL5) I L 10 rs2711941 Benign
57889 Q96PQ7 (KLHL5) G S 508 rs34646863 Benign
57890 Q96PS8 (AQP10) R Q 15 rs6668968 Benign
57891 Q96PS8 (AQP10) H Y 123 rs6685323 Benign
57892 Q96PT3 (DUX5) A V 60 rs10865697 Benign
57893 Q96PT3 (DUX5) P L 118 rs9755233 Benign
57894 Q96PT3 (DUX5) Q P 119 rs12374009 Benign
57895 Q96PT3 (DUX5) S A 180 rs12632317 Benign
57896 Q96PT3 (DUX5) S T 180 rs12632317 Benign
57897 Q96PU5 (NEDD4L) P L 355 rs767136811 Benign
57898 Q96PU5 (NEDD4L) S R 497 - Benign
57899 Q96PU5 (NEDD4L) Y C 679 rs879255599 Disease: Periventricu lar nodular heterotopia 7 (PVNH7) [MIM:617201]
57900 Q96PU5 (NEDD4L) Q H 694 rs879255598 Disease: Periventricu lar nodular heterotopia 7 (PVNH7) [MIM:617201]
57901 Q96PU5 (NEDD4L) E K 893 rs879255597 Disease: Periventricu lar nodular heterotopia 7 (PVNH7) [MIM:617201]
57902 Q96PU5 (NEDD4L) R Q 897 rs879255596 Disease: Periventricu lar nodular heterotopia 7 (PVNH7) [MIM:617201]
57903 Q96PV0 (SYNGAP1) R Q 170 rs1057519546 Disease: -
57904 Q96PV0 (SYNGAP1) A P 195 rs1057519545 Disease: -
57905 Q96PV0 (SYNGAP1) D E 201 rs768682743 Benign
57906 Q96PV0 (SYNGAP1) W R 362 - Disease: Mental retardation, autosomal dominant 5 (MRD5) [MIM:612621]
57907 Q96PV0 (SYNGAP1) P L 562 rs397514670 Disease: Mental retardation, autosomal dominant 5 (MRD5) [MIM:612621]
57908 Q96PV0 (SYNGAP1) R Q 749 - Benign
57909 Q96PV0 (SYNGAP1) T N 790 rs552867155 Benign
57910 Q96PV0 (SYNGAP1) G R 991 rs145472959 Benign
57911 Q96PV0 (SYNGAP1) I T 1115 rs191549504 Benign
57912 Q96PV0 (SYNGAP1) P L 1283 rs1396355432 Benign
57913 Q96PV0 (SYNGAP1) T M 1310 rs796430835 Benign
57914 Q96PV4 (PNMA5) N H 107 rs3810655 Benign
57915 Q96PV4 (PNMA5) R W 349 rs3810654 Benign
57916 Q96PV6 (LENG8) R P 279 rs35061854 Benign
57917 Q96PV6 (LENG8) I V 557 rs35336528 Benign
57918 Q96PV7 (FAM193B) S P 816 rs337382 Benign
57919 Q96PX1 (RNF157) P H 80 rs2289602 Benign
57920 Q96PX1 (RNF157) G R 208 rs11539879 Benign
57921 Q96PX1 (RNF157) E V 596 rs59053255 Benign
57922 Q96PX8 (SLITRK1) N I 400 - Disease: -
57923 Q96PX8 (SLITRK1) T S 418 rs150504822 Disease: -
57924 Q96PX8 (SLITRK1) L M 552 rs7491932 Benign
57925 Q96PX9 (PLEKHG4B) V A 37 rs12516846 Benign
57926 Q96PX9 (PLEKHG4B) A T 72 rs12523402 Benign
57927 Q96PX9 (PLEKHG4B) G S 149 rs11949577 Benign
57928 Q96PX9 (PLEKHG4B) R H 220 rs13436090 Benign
57929 Q96PX9 (PLEKHG4B) A V 660 rs3810869 Benign
57930 Q96PX9 (PLEKHG4B) T P 669 rs29674 Benign
57931 Q96PX9 (PLEKHG4B) R Q 1076 rs4956987 Benign
57932 Q96PX9 (PLEKHG4B) R G 1146 rs12519352 Benign
57933 Q96PY5 (FMNL2) Y C 352 rs34119671 Benign
57934 Q96PY5 (FMNL2) M T 504 rs11897929 Benign
57935 Q96PY6 (NEK1) I F 10 rs34214559 Benign
57936 Q96PY6 (NEK1) L V 76 rs35093214 Benign
57937 Q96PY6 (NEK1) G R 145 rs431905508 Disease: Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6) [MIM:263520]
57938 Q96PY6 (NEK1) L S 253 - Disease: Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6) [MIM:263520]
57939 Q96PY6 (NEK1) R H 261 rs200161705 Disease: Amyotrophic lateral sclerosis 24 (ALS24) [MIM:617892]
57940 Q96PY6 (NEK1) R G 355 rs35763578 Benign
57941 Q96PY6 (NEK1) A V 463 rs34540355 Benign
57942 Q96PY6 (NEK1) A T 598 rs33933790 Benign
57943 Q96PY6 (NEK1) N K 717 rs34324114 Benign
57944 Q96PY6 (NEK1) E G 724 rs34099167 Benign
57945 Q96PY6 (NEK1) K N 745 - Benign
57946 Q96PY6 (NEK1) Q E 883 rs6828134 Benign
57947 Q96PY6 (NEK1) D N 1180 rs35503975 Benign
57948 Q96PZ0 (PUS7) D Y 503 - Disease: Intellectual developmenta l disorder with abnormal behavior, microcephaly , and short stature (IDDABS) [MIM:618342]
57949 Q96PZ2 (FAM111A) T A 338 rs587777014 Disease: Gracile bone dysplasia (GCLEB) [MIM:602361]
57950 Q96PZ2 (FAM111A) Y H 511 rs587777012 Disease: Kenny-Caffey syndrome 2 (KCS2) [MIM:127000]
57951 Q96PZ2 (FAM111A) P T 527 rs587777015 Disease: Gracile bone dysplasia (GCLEB) [MIM:602361]
57952 Q96PZ2 (FAM111A) D G 528 rs587777013 Disease: Gracile bone dysplasia (GCLEB) [MIM:602361]
57953 Q96PZ2 (FAM111A) R H 569 rs587777011 Disease: Kenny-Caffey syndrome 2 (KCS2) [MIM:127000]
57954 Q96PZ7 (CSMD1) M I 2040 rs6995799 Benign
57955 Q96PZ7 (CSMD1) P A 2260 rs1254099921 Benign
57956 Q96PZ7 (CSMD1) G W 3311 rs34079122 Benign
57957 Q96PZ7 (CSMD1) Q H 3369 rs34337712 Benign
57958 Q96PZ7 (CSMD1) S N 3478 rs11984691 Benign
57959 Q96PZ7 (CSMD1) Y C 3539 rs573209145 Benign
57960 Q96Q04 (LMTK3) V L 900 rs1643478 Benign
57961 Q96Q04 (LMTK3) L V 929 rs1643478 Benign
57962 Q96Q06 (PLIN4) V A 124 rs4807597 Benign
57963 Q96Q06 (PLIN4) T A 421 rs55901236 Benign
57964 Q96Q06 (PLIN4) S G 659 rs7260518 Benign
57965 Q96Q06 (PLIN4) K N 761 rs7256387 Benign
57966 Q96Q06 (PLIN4) M T 802 rs7256712 Benign
57967 Q96Q06 (PLIN4) A E 826 rs7255187 Benign
57968 Q96Q06 (PLIN4) A G 826 rs7255187 Benign
57969 Q96Q06 (PLIN4) A V 826 rs7255187 Benign
57970 Q96Q06 (PLIN4) K N 860 rs7259721 Benign
57971 Q96Q06 (PLIN4) A T 1124 rs7251858 Benign
57972 Q96Q06 (PLIN4) R C 1134 rs7250947 Benign
57973 Q96Q11 (TRNT1) P L 23 rs334773 Benign
57974 Q96Q11 (TRNT1) T I 154 rs606231290 Disease: Sideroblasti c anemia with B-cell immunodefici ency, periodic fevers, and developmenta l delay (SIFD) [MIM:616084]
57975 Q96Q11 (TRNT1) M V 158 rs771781629 Disease: Sideroblasti c anemia with B-cell immunodefici ency, periodic fevers, and developmenta l delay (SIFD) [MIM:616084]
57976 Q96Q11 (TRNT1) L S 166 rs606231289 Disease: Sideroblasti c anemia with B-cell immunodefici ency, periodic fevers, and developmenta l delay (SIFD) [MIM:616084]
57977 Q96Q11 (TRNT1) R I 190 rs606231287 Disease: Sideroblasti c anemia with B-cell immunodefici ency, periodic fevers, and developmenta l delay (SIFD) [MIM:616084]
57978 Q96Q11 (TRNT1) I T 223 rs370011798 Disease: Sideroblasti c anemia with B-cell immunodefici ency, periodic fevers, and developmenta l delay (SIFD) [MIM:616084]
57979 Q96Q11 (TRNT1) I T 326 - Disease: Sideroblasti c anemia with B-cell immunodefici ency, periodic fevers, and developmenta l delay (SIFD) [MIM:616084]
57980 Q96Q11 (TRNT1) K E 416 rs199931785 Disease: Sideroblasti c anemia with B-cell immunodefici ency, periodic fevers, and developmenta l delay (SIFD) [MIM:616084]
57981 Q96Q15 (SMG1) A T 35 rs12051350 Benign
57982 Q96Q15 (SMG1) R C 126 rs752796432 Benign
57983 Q96Q15 (SMG1) S C 144 rs766737607 Benign
57984 Q96Q15 (SMG1) N Y 151 rs750788715 Benign
57985 Q96Q15 (SMG1) D N 160 - Benign
57986 Q96Q15 (SMG1) A V 167 rs1382468496 Benign
57987 Q96Q15 (SMG1) D G 320 - Benign
57988 Q96Q15 (SMG1) G S 465 rs200419100 Benign
57989 Q96Q15 (SMG1) H R 546 rs376234691 Benign
57990 Q96Q15 (SMG1) A S 588 rs750840136 Benign
57991 Q96Q15 (SMG1) I K 612 rs17842615 Benign
57992 Q96Q15 (SMG1) S C 753 rs569679854 Benign
57993 Q96Q15 (SMG1) S C 809 rs919788709 Benign
57994 Q96Q15 (SMG1) R C 812 rs1233400465 Benign
57995 Q96Q15 (SMG1) V I 829 - Benign
57996 Q96Q15 (SMG1) N D 832 rs80176913 Benign
57997 Q96Q15 (SMG1) A G 952 rs555078480 Benign
57998 Q96Q15 (SMG1) N S 969 rs1412788971 Benign
57999 Q96Q15 (SMG1) F L 1016 rs1394431566 Benign
58000 Q96Q15 (SMG1) R Q 1029 - Benign
58001 Q96Q15 (SMG1) T S 1072 rs45516593 Benign
58002 Q96Q15 (SMG1) N H 1103 rs563883658 Benign
58003 Q96Q15 (SMG1) P R 1275 - Benign
58004 Q96Q15 (SMG1) Q P 1292 rs375411122 Benign
58005 Q96Q15 (SMG1) I V 1332 rs949474935 Benign
58006 Q96Q15 (SMG1) S P 1358 - Benign
58007 Q96Q15 (SMG1) R T 1418 rs17731779 Benign
58008 Q96Q15 (SMG1) G S 2258 rs35572280 Benign
58009 Q96Q15 (SMG1) M K 2345 rs56276814 Benign
58010 Q96Q15 (SMG1) Q E 2730 rs34960798 Benign
58011 Q96Q15 (SMG1) G S 2889 rs35952340 Benign
58012 Q96Q15 (SMG1) P A 2899 rs55782217 Benign
58013 Q96Q27 (ASB2) P S 160 rs2295213 Benign
58014 Q96Q35 (FLACC1) V L 43 rs13014235 Benign
58015 Q96Q40 (CDK15) R G 64 rs34776344 Benign
58016 Q96Q40 (CDK15) Q R 127 rs56135556 Benign
58017 Q96Q40 (CDK15) T I 255 rs34851370 Benign
58018 Q96Q42 (ALS2) I V 94 rs3219154 Benign
58019 Q96Q42 (ALS2) H R 102 rs1416065347 Benign
58020 Q96Q42 (ALS2) E K 159 rs3219155 Benign
58021 Q96Q42 (ALS2) V M 368 rs3219156 Benign
58022 Q96Q42 (ALS2) S F 1255 rs10206276 Benign
58023 Q96Q42 (ALS2) R K 1406 - Benign
58024 Q96Q77 (CIB3) G E 139 rs6512087 Benign
58025 Q96Q80 (DERL3) F L 149 rs3177243 Benign
58026 Q96Q80 (DERL3) A V 211 rs1128127 Benign
58027 Q96Q83 (ALKBH3) R C 164 rs2271815 Benign
58028 Q96Q83 (ALKBH3) D E 228 rs1130290 Benign
58029 Q96Q89 (KIF20B) A G 50 rs1129777 Benign
58030 Q96Q89 (KIF20B) E D 490 rs17484219 Benign
58031 Q96Q89 (KIF20B) N I 756 rs12572012 Benign
58032 Q96Q89 (KIF20B) H L 789 rs3758388 Benign
58033 Q96Q89 (KIF20B) D E 1011 rs1062465 Benign
58034 Q96Q89 (KIF20B) E Q 1127 rs11185863 Benign
58035 Q96Q89 (KIF20B) A V 1148 rs117564945 Benign
58036 Q96Q89 (KIF20B) C R 1177 rs1886996 Benign
58037 Q96Q89 (KIF20B) N S 1219 rs1886997 Benign
58038 Q96Q89 (KIF20B) F Y 1589 rs117258675 Benign
58039 Q96Q89 (KIF20B) I V 1789 rs3758390 Benign
58040 Q96QA5 (GSDMA) R Q 18 rs3894194 Benign
58041 Q96QA5 (GSDMA) V L 128 rs7212938 Benign
58042 Q96QA5 (GSDMA) E K 130 rs7212944 Benign
58043 Q96QA5 (GSDMA) T N 314 rs56030650 Benign
58044 Q96QB1 (DLC1) R C 27 rs34575560 Benign
58045 Q96QB1 (DLC1) L V 81 rs3816748 Benign
58046 Q96QB1 (DLC1) Q H 254 rs11203495 Benign
58047 Q96QB1 (DLC1) N D 255 rs11203494 Benign
58048 Q96QB1 (DLC1) T I 260 rs3816747 Benign
58049 Q96QB1 (DLC1) Q H 320 rs34591797 Benign
58050 Q96QB1 (DLC1) N S 712 rs1044092 Benign
58051 Q96QB1 (DLC1) V M 791 rs532841 Benign
58052 Q96QB1 (DLC1) T A 959 rs121908500 Benign
58053 Q96QB1 (DLC1) H Q 998 rs149295187 Benign
58054 Q96QB1 (DLC1) V A 1025 - Benign
58055 Q96QB1 (DLC1) E V 1199 rs1044093 Benign
58056 Q96QB1 (DLC1) S C 1209 rs1044094 Benign
58057 Q96QC0 (PPP1R10) R P 173 rs16897725 Benign
58058 Q96QD5 (DEPDC7) A T 192 rs34161108 Benign
58059 Q96QD5 (DEPDC7) T I 464 rs17852859 Benign
58060 Q96QD8 (SLC38A2) N K 48 rs11183450 Benign
58061 Q96QD9 (FYTTD1) R H 87 rs3205525 Benign
58062 Q96QE3 (ATAD5) T S 35 rs9910051 Benign
58063 Q96QE3 (ATAD5) P S 87 rs3816780 Benign
58064 Q96QE3 (ATAD5) E G 135 rs11080134 Benign
58065 Q96QE3 (ATAD5) D N 215 rs367699401 Benign
58066 Q96QE3 (ATAD5) R K 249 rs17826219 Benign
58067 Q96QE3 (ATAD5) N H 699 rs3764421 Benign
58068 Q96QE3 (ATAD5) Y H 1419 rs11657270 Benign
58069 Q96QE5 (TEFM) I V 348 rs2433 Benign
58070 Q96QF7 (GCNA) R H 471 rs10217999 Benign
58071 Q96QF7 (GCNA) T I 662 rs2280962 Benign
58072 Q96QH2 (PRAM1) K Q 57 rs4804305 Benign
58073 Q96QH2 (PRAM1) P Q 73 rs4239541 Benign
58074 Q96QH2 (PRAM1) V F 76 rs4239540 Benign
58075 Q96QH2 (PRAM1) G E 135 rs58466313 Benign
58076 Q96QK1 (VPS35) G S 51 rs193077277 Benign
58077 Q96QK1 (VPS35) M I 57 rs183554824 Benign
58078 Q96QK1 (VPS35) T R 82 rs188245364 Benign
58079 Q96QK1 (VPS35) I M 241 rs192783364 Benign
58080 Q96QK1 (VPS35) P S 316 rs770029606 Benign
58081 Q96QK1 (VPS35) R W 524 rs184277092 Benign
58082 Q96QK1 (VPS35) V D 602 rs34687100 Benign
58083 Q96QK1 (VPS35) D N 620 rs188286943 Disease: Parkinson disease 17 (PARK17) [MIM:614203]
58084 Q96QK1 (VPS35) A V 737 rs749516404 Benign
58085 Q96QK1 (VPS35) L M 774 rs192419029 Benign
58086 Q96QP1 (ALPK1) Q R 67 rs33943680 Benign
58087 Q96QP1 (ALPK1) N D 175 rs6533616 Benign
58088 Q96QP1 (ALPK1) T M 292 rs34120296 Benign
58089 Q96QP1 (ALPK1) L M 320 rs757602009 Benign
58090 Q96QP1 (ALPK1) K E 383 rs147641444 Benign
58091 Q96QP1 (ALPK1) G D 565 rs2074388 Benign
58092 Q96QP1 (ALPK1) H R 642 rs13148353 Benign
58093 Q96QP1 (ALPK1) P L 660 rs35389530 Benign
58094 Q96QP1 (ALPK1) G D 681 rs35519493 Benign
58095 Q96QP1 (ALPK1) M I 732 rs2074379 Benign
58096 Q96QP1 (ALPK1) M T 861 rs11726117 Benign
58097 Q96QP1 (ALPK1) G S 870 rs2074380 Benign
58098 Q96QP1 (ALPK1) R I 873 rs34946272 Benign
58099 Q96QP1 (ALPK1) E D 910 rs35308602 Benign
58100 Q96QP1 (ALPK1) N D 916 rs2074381 Benign
58101 Q96QP1 (ALPK1) P L 935 rs34780600 Benign
58102 Q96QP1 (ALPK1) H P 1008 rs34079946 Benign
58103 Q96QP1 (ALPK1) R Q 1084 rs34677416 Benign
58104 Q96QP1 (ALPK1) L P 1117 rs35756863 Benign
58105 Q96QP1 (ALPK1) A G 1160 rs55696324 Benign
58106 Q96QS3 (ARX) L P 33 rs28936077 Disease: Mental retardation, X-linked, with or without seizures, ARX-related (MRXARX) [MIM:300419]
58107 Q96QS3 (ARX) G S 286 rs28935479 Disease: Mental retardation, X-linked, with or without seizures, ARX-related (MRXARX) [MIM:300419]
58108 Q96QS3 (ARX) R H 332 rs111033612 Disease: Lissencephal y, X-linked 2 (LISX2) [MIM:300215]
58109 Q96QS3 (ARX) R P 332 - Disease: Lissencephal y, X-linked 2 (LISX2) [MIM:300215]
58110 Q96QS3 (ARX) T N 333 rs104894745 Disease: Agenesis of the corpus callosum, with abnormal genitalia (ACCAG) [MIM:300004]
58111 Q96QS3 (ARX) L Q 343 rs104894741 Disease: Lissencephal y, X-linked 2 (LISX2) [MIM:300215]
58112 Q96QS3 (ARX) P L 353 rs104894743 Disease: Epileptic encephalopat hy, early infantile, 1 (EIEE1) [MIM:308350]
58113 Q96QS3 (ARX) P R 353 - Disease: Lissencephal y, X-linked 2 (LISX2) [MIM:300215]
58114 Q96QS3 (ARX) A T 521 rs746120093 Disease: Lissencephal y, X-linked 2 (LISX2) [MIM:300215]
58115 Q96QS6 (PSKH2) G D 72 rs56407605 Benign
58116 Q96QS6 (PSKH2) R K 79 rs35315725 Benign
58117 Q96QS6 (PSKH2) R Q 114 rs35915498 Benign
58118 Q96QS6 (PSKH2) Q R 132 rs16879427 Benign
58119 Q96QS6 (PSKH2) R Q 148 rs56356246 Benign
58120 Q96QS6 (PSKH2) A S 176 rs6998760 Benign
58121 Q96QS6 (PSKH2) G R 211 rs36074412 Benign
58122 Q96QS6 (PSKH2) T A 225 rs34457516 Benign
58123 Q96QS6 (PSKH2) S R 266 rs34037815 Benign
58124 Q96QS6 (PSKH2) I V 336 rs16876805 Benign
58125 Q96QT4 (TRPM7) G V 68 rs56064201 Benign
58126 Q96QT4 (TRPM7) I T 459 rs55924090 Benign
58127 Q96QT4 (TRPM7) K N 574 rs56040619 Benign
58128 Q96QT4 (TRPM7) F Y 949 rs55681028 Benign
58129 Q96QT4 (TRPM7) A G 1033 rs34530969 Benign
58130 Q96QT4 (TRPM7) Q R 1064 rs56298128 Benign
58131 Q96QT4 (TRPM7) I V 1145 rs34711809 Benign
58132 Q96QT4 (TRPM7) I T 1211 rs56090496 Benign
58133 Q96QT4 (TRPM7) A V 1254 rs56288221 Benign
58134 Q96QT4 (TRPM7) D E 1306 rs55970334 Benign
58135 Q96QT4 (TRPM7) R K 1444 rs55840070 Benign
58136 Q96QT4 (TRPM7) T I 1482 rs8042919 Benign
58137 Q96QU1 (PCDH15) S A 19 rs11004439 Benign
58138 Q96QU1 (PCDH15) R G 134 rs137853003 Disease: Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533]
58139 Q96QU1 (PCDH15) R Q 134 rs767966376 Disease: Usher syndrome 1F (USH1F) [MIM:602083]
58140 Q96QU1 (PCDH15) N S 174 rs145037203 Benign
58141 Q96QU1 (PCDH15) D G 178 - Disease: Usher syndrome 1D/F (USH1DF) [MIM:601067]
58142 Q96QU1 (PCDH15) G D 262 rs137853002 Disease: Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533]
58143 Q96QU1 (PCDH15) G S 380 rs10825269 Benign
58144 Q96QU1 (PCDH15) D A 435 rs4935502 Benign
58145 Q96QU1 (PCDH15) R Q 929 rs2135720 Benign
58146 Q96QU1 (PCDH15) R S 1273 rs111033363 Benign
58147 Q96QU1 (PCDH15) Q K 1342 rs61731387 Disease: Usher syndrome 1F (USH1F) [MIM:602083]
58148 Q96QU6 (ACCS) D N 59 rs33952257 Benign
58149 Q96QU6 (ACCS) D E 134 rs2018795 Benign
58150 Q96QU6 (ACCS) P L 421 rs3107275 Benign
58151 Q96QU8 (XPO6) V L 1029 rs14672 Benign
58152 Q96QV1 (HHIP) V I 341 - Benign
58153 Q96QZ0 (PANX3) G R 95 rs34498516 Benign
58154 Q96QZ0 (PANX3) T A 208 rs35569094 Benign
58155 Q96R08 (OR5B12) C R 141 rs4938895 Benign
58156 Q96R08 (OR5B12) C Y 141 rs11229457 Benign
58157 Q96R09 (OR5B2) M T 200 rs4298923 Benign
58158 Q96R09 (OR5B2) V A 208 rs10466659 Benign
58159 Q96R28 (OR2M2) S C 87 rs61156873 Benign
58160 Q96R28 (OR2M2) R G 220 rs4244171 Benign
58161 Q96R28 (OR2M2) C R 235 rs4916104 Benign
58162 Q96R28 (OR2M2) A T 237 rs9435890 Benign
58163 Q96R30 (OR2V2) A V 34 rs17617270 Benign
58164 Q96R30 (OR2V2) H R 221 rs2546423 Benign
58165 Q96R47 (OR2A14) S I 133 rs2961160 Benign
58166 Q96R47 (OR2A14) S R 164 rs2961161 Benign
58167 Q96R48 (OR2A5) I V 126 rs2961144 Benign
58168 Q96R48 (OR2A5) A S 202 rs6464573 Benign
58169 Q96R48 (OR2A5) A T 255 rs6464574 Benign
58170 Q96R67 (OR4C12) V L 283 rs4598671 Benign
58171 Q96RA2 (OR7D2) T M 197 rs13345452 Benign
58172 Q96RB7 (OR5M11) S N 171 rs628524 Benign
58173 Q96RB7 (OR5M11) V L 280 rs17547207 Benign
58174 Q96RC9 (OR8B4) E G 22 rs10750270 Benign
58175 Q96RC9 (OR8B4) Y H 131 rs4057750 Benign
58176 Q96RC9 (OR8B4) C F 140 rs7116575 Benign
58177 Q96RC9 (OR8B4) C R 178 rs4057749 Benign
58178 Q96RD0 (OR8B2) H R 20 rs28373946 Benign
58179 Q96RD0 (OR8B2) L F 27 rs530740 Benign
58180 Q96RD0 (OR8B2) L F 164 rs886202 Benign
58181 Q96RD0 (OR8B2) S F 273 rs503220 Benign
58182 Q96RD1 (OR6C1) C Y 130 rs7132431 Benign
58183 Q96RD1 (OR6C1) H D 165 rs7132347 Benign
58184 Q96RD1 (OR6C1) T I 222 rs7132600 Benign
58185 Q96RD1 (OR6C1) V I 246 rs7132916 Benign
58186 Q96RD2 (OR52B2) F Y 105 rs16909422 Benign
58187 Q96RD3 (OR52E6) I V 39 rs4362173 Benign
58188 Q96RD3 (OR52E6) F L 48 rs10769272 Benign
58189 Q96RD3 (OR52E6) C F 64 rs4495918 Benign
58190 Q96RD3 (OR52E6) S P 95 rs4592451 Benign
58191 Q96RD3 (OR52E6) W R 133 rs10838719 Benign
58192 Q96RD3 (OR52E6) I V 159 rs4357719 Benign
58193 Q96RD3 (OR52E6) F Y 170 rs7943698 Benign
58194 Q96RD3 (OR52E6) M R 199 rs10742809 Benign
58195 Q96RD7 (PANX1) Q H 5 rs1138800 Benign
58196 Q96RD7 (PANX1) R H 217 rs143240087 Benign
58197 Q96RD7 (PANX1) I V 272 rs12793348 Benign
58198 Q96RD7 (PANX1) K E 346 - Disease: Oocyte maturation defect 7 (OOMD7) [MIM:618550]
58199 Q96RD7 (PANX1) C S 347 - Disease: Oocyte maturation defect 7 (OOMD7) [MIM:618550]
58200 Q96RD9 (FCRL5) Y H 267 rs6679793 Benign
58201 Q96RD9 (FCRL5) V I 269 rs12036228 Benign
58202 Q96RD9 (FCRL5) G D 418 rs2012199 Benign
58203 Q96RD9 (FCRL5) N K 427 rs16838748 Benign
58204 Q96RD9 (FCRL5) Q R 457 rs34868810 Benign
58205 Q96RD9 (FCRL5) V I 466 rs6427384 Benign
58206 Q96RE7 (NACC1) R W 298 rs1060505041 Disease: Neurodevelop mental disorder with epilepsy, cataracts, feeding difficulties , and delayed brain myelination (NECFM) [MIM:617393]
58207 Q96RE9 (ZNF300) Q H 336 rs1988688 Benign
58208 Q96RF0 (SNX18) E D 571 rs2548612 Benign
58209 Q96RF0 (SNX18) K T 593 rs13162502 Benign
58210 Q96RG2 (PASK) V I 250 rs1470414 Benign
58211 Q96RG2 (PASK) Q R 426 rs35187712 Benign
58212 Q96RG2 (PASK) T A 512 rs56033464 Benign
58213 Q96RG2 (PASK) L S 514 rs2240543 Benign
58214 Q96RG2 (PASK) P R 684 rs56372985 Benign
58215 Q96RG2 (PASK) V M 694 rs6727226 Benign
58216 Q96RG2 (PASK) G D 725 rs2005771 Benign
58217 Q96RG2 (PASK) E K 796 rs35129131 Benign
58218 Q96RG2 (PASK) P Q 844 rs36082918 Benign
58219 Q96RG2 (PASK) R H 937 rs56139954 Benign
58220 Q96RG2 (PASK) V M 1210 rs10167000 Benign
58221 Q96RG2 (PASK) F C 1266 rs1131293 Benign
58222 Q96RG2 (PASK) P S 1301 - Benign
58223 Q96RI0 (F2RL3) A T 120 rs773902 Benign
58224 Q96RI0 (F2RL3) R Q 215 rs2230799 Benign
58225 Q96RI0 (F2RL3) F V 296 rs2227346 Benign
58226 Q96RI0 (F2RL3) P L 310 rs2227376 Benign
58227 Q96RI8 (TAAR6) I T 37 rs17061399 Benign
58228 Q96RI8 (TAAR6) Y C 99 rs41298395 Benign
58229 Q96RI8 (TAAR6) G S 165 rs17061401 Benign
58230 Q96RI8 (TAAR6) Y C 173 rs17061404 Benign
58231 Q96RI8 (TAAR6) A V 228 rs17061409 Benign
58232 Q96RI8 (TAAR6) V I 265 rs8192624 Benign
58233 Q96RI8 (TAAR6) C Y 291 rs8192625 Benign
58234 Q96RI8 (TAAR6) V I 326 rs17061419 Benign
58235 Q96RI9 (TAAR9) A T 278 rs9389004 Benign
58236 Q96RJ0 (TAAR1) R C 23 rs8192618 Benign
58237 Q96RJ0 (TAAR1) T A 252 rs6926857 Benign
58238 Q96RJ3 (TNFRSF13C) G V 64 rs547352394 Benign
58239 Q96RJ3 (TNFRSF13C) H Y 159 rs61756766 Benign
58240 Q96RK0 (CIC) S G 982 rs17339472 Benign
58241 Q96RK4 (BBS4) K R 46 rs75295839 Benign
58242 Q96RK4 (BBS4) E K 61 rs1251827333 Benign
58243 Q96RK4 (BBS4) N H 165 - Disease: Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
58244 Q96RK4 (BBS4) E K 268 rs11638283 Benign
58245 Q96RK4 (BBS4) R P 295 rs121434632 Disease: Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
58246 Q96RK4 (BBS4) L P 327 - Disease: Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
58247 Q96RK4 (BBS4) L R 351 - Disease: Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
58248 Q96RK4 (BBS4) I T 354 rs2277598 Benign
58249 Q96RK4 (BBS4) A E 364 rs28938468 Disease: Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
58250 Q96RK4 (BBS4) D G 368 rs772548770 Disease: Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
58251 Q96RK4 (BBS4) A V 393 rs17852452 Benign
58252 Q96RK4 (BBS4) E D 412 rs147202164 Benign
58253 Q96RK4 (BBS4) S I 457 - Disease: Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
58254 Q96RK4 (BBS4) M V 472 rs2277596 Disease: Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
58255 Q96RK4 (BBS4) T K 488 rs561284402 Benign
58256 Q96RK4 (BBS4) P L 503 rs756419611 Disease: Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]
58257 Q96RL1 (UIMC1) R W 15 rs13167812 Benign
58258 Q96RL1 (UIMC1) M T 353 rs143282828 Benign
58259 Q96RL1 (UIMC1) P L 435 rs3733876 Benign
58260 Q96RL1 (UIMC1) C R 511 rs13360277 Benign
58261 Q96RL1 (UIMC1) G E 596 rs10475633 Benign
58262 Q96RL7 (VPS13A) I K 90 rs119477052 Disease: Choreoacanth ocytosis (CHAC) [MIM:200150]
58263 Q96RL7 (VPS13A) F L 565 - Benign
58264 Q96RL7 (VPS13A) V A 898 rs78048112 Benign
58265 Q96RL7 (VPS13A) A P 1095 - Disease: Choreoacanth ocytosis (CHAC) [MIM:200150]
58266 Q96RL7 (VPS13A) S P 1452 - Disease: Choreoacanth ocytosis (CHAC) [MIM:200150]
58267 Q96RL7 (VPS13A) R K 1490 rs76077278 Benign
58268 Q96RL7 (VPS13A) Y C 1587 rs149840356 Benign
58269 Q96RL7 (VPS13A) V I 1973 rs41289969 Benign
58270 Q96RL7 (VPS13A) W R 2460 rs1400127478 Disease: Choreoacanth ocytosis (CHAC) [MIM:200150]
58271 Q96RL7 (VPS13A) I T 2486 rs141138349 Benign
58272 Q96RL7 (VPS13A) Y C 2721 rs781395681 Disease: Choreoacanth ocytosis (CHAC) [MIM:200150]
58273 Q96RL7 (VPS13A) P L 3172 rs75740713 Benign
58274 Q96RN1 (SLC26A8) V M 73 rs743923 Benign
58275 Q96RN1 (SLC26A8) R Q 87 rs140210148 Disease: Spermatogeni c failure 3 (SPGF3) [MIM:606766]
58276 Q96RN1 (SLC26A8) I V 148 rs17713154 Benign
58277 Q96RN1 (SLC26A8) S N 230 rs17707331 Benign
58278 Q96RN1 (SLC26A8) I V 639 rs2295852 Benign
58279 Q96RN1 (SLC26A8) E K 812 rs142724470 Disease: Spermatogeni c failure 3 (SPGF3) [MIM:606766]
58280 Q96RN1 (SLC26A8) R C 954 rs398123027 Disease: Spermatogeni c failure 3 (SPGF3) [MIM:606766]
58281 Q96RP7 (GAL3ST4) R Q 353 rs3800952 Benign
58282 Q96RP7 (GAL3ST4) A V 467 rs3823646 Benign
58283 Q96RP8 (KCNA7) P R 189 rs1611775 Benign
58284 Q96RP8 (KCNA7) M T 418 rs1017219 Benign
58285 Q96RP9 (GFM1) S Y 57 rs1254972325 Disease: Combined oxidative phosphorylat ion deficiency 1 (COXPD1) [MIM:609060]
58286 Q96RP9 (GFM1) N S 174 rs119470018 Disease: Combined oxidative phosphorylat ion deficiency 1 (COXPD1) [MIM:609060]
58287 Q96RP9 (GFM1) V I 215 rs2303909 Benign
58288 Q96RP9 (GFM1) R W 250 rs139430866 Disease: Combined oxidative phosphorylat ion deficiency 1 (COXPD1) [MIM:609060]
58289 Q96RP9 (GFM1) M R 496 rs119470020 Disease: Combined oxidative phosphorylat ion deficiency 1 (COXPD1) [MIM:609060]
58290 Q96RQ3 (MCCC1) G E 46 rs199517715 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58291 Q96RQ3 (MCCC1) N K 56 rs1057520695 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58292 Q96RQ3 (MCCC1) M L 65 - Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58293 Q96RQ3 (MCCC1) Y C 79 - Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58294 Q96RQ3 (MCCC1) S F 120 - Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58295 Q96RQ3 (MCCC1) Q H 123 - Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58296 Q96RQ3 (MCCC1) I M 125 - Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58297 Q96RQ3 (MCCC1) G S 130 rs202197951 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58298 Q96RQ3 (MCCC1) E K 134 rs1229069160 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58299 Q96RQ3 (MCCC1) M R 160 - Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58300 Q96RQ3 (MCCC1) G V 180 rs748201122 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58301 Q96RQ3 (MCCC1) S P 187 rs757362635 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58302 Q96RQ3 (MCCC1) G V 209 rs186209189 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58303 Q96RQ3 (MCCC1) R W 232 rs727504004 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58304 Q96RQ3 (MCCC1) A D 268 - Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58305 Q96RQ3 (MCCC1) C R 276 rs773433541 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58306 Q96RQ3 (MCCC1) R Q 281 rs754437245 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58307 Q96RQ3 (MCCC1) E G 288 rs746500530 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58308 Q96RQ3 (MCCC1) A V 289 rs1326114075 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58309 Q96RQ3 (MCCC1) A V 291 rs201041864 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58310 Q96RQ3 (MCCC1) M R 325 rs119103212 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58311 Q96RQ3 (MCCC1) Q P 372 rs755328329 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58312 Q96RQ3 (MCCC1) G D 379 - Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58313 Q96RQ3 (MCCC1) G S 379 rs887877405 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58314 Q96RQ3 (MCCC1) H P 380 rs794727036 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58315 Q96RQ3 (MCCC1) R S 385 rs119103213 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58316 Q96RQ3 (MCCC1) I M 434 rs376289130 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58317 Q96RQ3 (MCCC1) L P 437 rs119103215 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58318 Q96RQ3 (MCCC1) V M 439 rs398124352 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58319 Q96RQ3 (MCCC1) R H 444 rs768785753 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58320 Q96RQ3 (MCCC1) I M 460 rs119103218 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58321 Q96RQ3 (MCCC1) H P 464 rs2270968 Benign
58322 Q96RQ3 (MCCC1) D H 532 rs119103214 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58323 Q96RQ3 (MCCC1) S F 535 rs119103216 Disease: 3-methylcrot onoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]
58324 Q96RQ3 (MCCC1) N T 560 rs35219417 Benign
58325 Q96RQ3 (MCCC1) P S 632 rs142867987 Benign
58326 Q96RQ9 (IL4I1) A S 501 rs2290772 Benign
58327 Q96RR1 (TWNK) R Q 303 rs137852956 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58328 Q96RR1 (TWNK) R W 303 rs1159929268 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58329 Q96RR1 (TWNK) W L 315 rs111033575 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58330 Q96RR1 (TWNK) W S 315 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58331 Q96RR1 (TWNK) A T 318 rs80356542 Disease: Mitochondria l DNA depletion syndrome 7 (MTDPS7) [MIM:271245]
58332 Q96RR1 (TWNK) K E 319 rs80356543 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58333 Q96RR1 (TWNK) K T 319 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58334 Q96RR1 (TWNK) R Q 334 rs28937887 Benign
58335 Q96RR1 (TWNK) R P 334 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58336 Q96RR1 (TWNK) P L 335 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58337 Q96RR1 (TWNK) G R 348 rs62626271 Benign
58338 Q96RR1 (TWNK) R P 354 rs111033576 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58339 Q96RR1 (TWNK) R P 357 rs758026634 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58340 Q96RR1 (TWNK) A T 359 rs111033573 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58341 Q96RR1 (TWNK) L G 360 - Disease: Mitochondria l DNA depletion syndrome 7 (MTDPS7) [MIM:271245]
58342 Q96RR1 (TWNK) A P 362 rs1554887075 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58343 Q96RR1 (TWNK) W L 363 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58344 Q96RR1 (TWNK) I T 367 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58345 Q96RR1 (TWNK) V I 368 rs17113613 Benign
58346 Q96RR1 (TWNK) S P 369 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58347 Q96RR1 (TWNK) S Y 369 rs111033579 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58348 Q96RR1 (TWNK) F C 370 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58349 Q96RR1 (TWNK) F L 370 rs863223920 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58350 Q96RR1 (TWNK) R Q 374 rs1554887097 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58351 Q96RR1 (TWNK) L P 381 rs111033577 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58352 Q96RR1 (TWNK) R H 391 rs556445621 Disease: Perrault syndrome 5 (PRLTS5) [MIM:616138]
58353 Q96RR1 (TWNK) S N 426 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58354 Q96RR1 (TWNK) E G 427 rs11542126 Benign
58355 Q96RR1 (TWNK) W G 441 rs672601361 Disease: Perrault syndrome 5 (PRLTS5) [MIM:616138]
58356 Q96RR1 (TWNK) L V 456 rs386834145 Disease: Mitochondria l DNA depletion syndrome 7 (MTDPS7) [MIM:271245]
58357 Q96RR1 (TWNK) T I 457 rs80356544 Disease: Mitochondria l DNA depletion syndrome 7 (MTDPS7) [MIM:271245]
58358 Q96RR1 (TWNK) Q H 458 rs1554887213 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58359 Q96RR1 (TWNK) A P 460 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58360 Q96RR1 (TWNK) W C 474 rs111033574 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58361 Q96RR1 (TWNK) W S 474 rs11542127 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58362 Q96RR1 (TWNK) A D 475 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58363 Q96RR1 (TWNK) A P 475 rs111033572 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58364 Q96RR1 (TWNK) F I 478 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58365 Q96RR1 (TWNK) E K 479 rs1085307937 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]
58366 Q96RR1 (TWNK) V I 507 rs369588002 Disease: Perrault syndrome 5 (PRLTS5) [MIM:616138]
58367 Q96RR1 (TWNK) Y C 508 rs80356540 Disease: Mitochondria l DNA depletion syndrome 7 (MTDPS7) [MIM:271245]
58368 Q96RR1 (TWNK) N S 585 rs672601360 Disease: Perrault syndrome 5 (PRLTS5) [MIM:616138]
58369 Q96RR1 (TWNK) N K 634 rs62626293 Benign
58370 Q96RR4 (CAMKK2) S N 10 rs28360477 Benign
58371 Q96RR4 (CAMKK2) T S 85 rs3817190 Benign
58372 Q96RR4 (CAMKK2) C Y 123 rs35403710 Benign
58373 Q96RR4 (CAMKK2) R C 363 rs1132780 Benign
58374 Q96RR4 (CAMKK2) R H 492 rs34129994 Benign
58375 Q96RS0 (TGS1) I T 16 rs1818 Benign
58376 Q96RS0 (TGS1) I V 160 rs3213971 Benign
58377 Q96RS0 (TGS1) P S 299 rs11986329 Benign
58378 Q96RS0 (TGS1) I T 511 rs10100659 Benign
58379 Q96RS0 (TGS1) V I 576 rs16922259 Benign
58380 Q96RS0 (TGS1) T A 595 rs10109493 Benign
58381 Q96RS0 (TGS1) F C 754 rs7823773 Benign
58382 Q96RS6 (NUDCD1) L F 252 rs2980619 Benign
58383 Q96RS6 (NUDCD1) I V 269 rs2980618 Benign
58384 Q96RS6 (NUDCD1) N H 394 rs34660136 Benign
58385 Q96RS6 (NUDCD1) N S 426 rs11550169 Benign
58386 Q96RT1 (ERBIN) S L 274 rs3213837 Benign
58387 Q96RT1 (ERBIN) A V 313 rs191137999 Benign
58388 Q96RT1 (ERBIN) K E 746 rs16894812 Benign
58389 Q96RT1 (ERBIN) K R 914 rs34521887 Benign
58390 Q96RT1 (ERBIN) G V 1089 rs35601230 Benign
58391 Q96RT1 (ERBIN) S L 1112 rs3805466 Benign
58392 Q96RT1 (ERBIN) K E 1207 - Benign
58393 Q96RT6 (CTAGE1) I V 682 rs9946136 Benign
58394 Q96RT7 (TUBGCP6) L P 104 rs8137873 Benign
58395 Q96RT7 (TUBGCP6) L S 567 rs4838865 Benign
58396 Q96RT7 (TUBGCP6) I M 624 rs35573482 Benign
58397 Q96RT7 (TUBGCP6) A V 884 rs34455105 Benign
58398 Q96RT7 (TUBGCP6) V M 1232 rs17248287 Benign
58399 Q96RT7 (TUBGCP6) S C 1364 rs5771107 Benign
58400 Q96RT7 (TUBGCP6) T A 1377 rs11703226 Benign
58401 Q96RT7 (TUBGCP6) V L 1621 rs4838864 Benign
58402 Q96RT8 (TUBGCP5) E D 662 rs35612840 Benign
58403 Q96RU3 (FNBP1) S N 490 rs1023000 Benign
58404 Q96RU7 (TRIB3) Q R 84 rs2295490 Benign
58405 Q96RU7 (TRIB3) R H 153 rs35051116 Benign
58406 Q96RU7 (TRIB3) R H 274 rs56291463 Benign
58407 Q96RU7 (TRIB3) E K 347 rs56342286 Benign
58408 Q96RU8 (TRIB1) S R 173 rs56285697 Benign
58409 Q96RU8 (TRIB1) T M 215 rs34349706 Benign
58410 Q96RU8 (TRIB1) V I 267 rs56056430 Benign
58411 Q96RU8 (TRIB1) R C 298 rs55953723 Benign
58412 Q96RU8 (TRIB1) E A 360 rs35454769 Benign
58413 Q96RU8 (TRIB1) E D 360 rs16900603 Benign
58414 Q96RV3 (PCNX1) A T 594 rs34222509 Benign
58415 Q96RV3 (PCNX1) L I 809 rs11625687 Benign
58416 Q96RV3 (PCNX1) L I 814 rs11625690 Benign
58417 Q96RW7 (HMCN1) T A 1056 rs7539719 Benign
58418 Q96RW7 (HMCN1) V F 1184 rs12239296 Benign
58419 Q96RW7 (HMCN1) A V 1624 - Benign
58420 Q96RW7 (HMCN1) M I 2327 rs12067376 Benign
58421 Q96RW7 (HMCN1) I T 2418 rs12129650 Benign
58422 Q96RW7 (HMCN1) E G 2893 rs10798035 Benign
58423 Q96RW7 (HMCN1) H Y 4084 rs41317489 Benign
58424 Q96RW7 (HMCN1) Q R 4437 rs10911825 Benign
58425 Q96RW7 (HMCN1) A T 4720 rs6693069 Benign
58426 Q96RW7 (HMCN1) D V 5087 rs41317507 Benign
58427 Q96RW7 (HMCN1) Q R 5345 rs121434382 Disease: Macular degeneration , age-related, 1 (ARMD1) [MIM:603075]
58428 Q96RY7 (IFT140) R H 110 rs371077545 Benign
58429 Q96RY7 (IFT140) L F 152 rs1403669200 Disease: Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
58430 Q96RY7 (IFT140) P T 161 rs148462329 Benign
58431 Q96RY7 (IFT140) D A 165 rs35588860 Benign
58432 Q96RY7 (IFT140) G R 212 rs201188361 Disease: Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
58433 Q96RY7 (IFT140) I M 233 - Disease: Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
58434 Q96RY7 (IFT140) E G 243 rs539181813 Benign
58435 Q96RY7 (IFT140) E G 267 - Disease: Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
58436 Q96RY7 (IFT140) R P 279 rs4786350 Benign
58437 Q96RY7 (IFT140) R Q 280 rs35404373 Benign
58438 Q96RY7 (IFT140) R W 280 rs8058674 Disease: Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
58439 Q96RY7 (IFT140) V M 292 rs431905521 Disease: Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
58440 Q96RY7 (IFT140) Y C 311 rs387907193 Disease: Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
58441 Q96RY7 (IFT140) V I 398 rs34762152 Benign
58442 Q96RY7 (IFT140) A V 451 rs8060532 Benign
58443 Q96RY7 (IFT140) W S 459 rs778311141 Benign
58444 Q96RY7 (IFT140) L H 514 rs150903791 Benign
58445 Q96RY7 (IFT140) G E 522 rs199826737 Disease: Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
58446 Q96RY7 (IFT140) S N 561 rs8050974 Benign
58447 Q96RY7 (IFT140) R Q 576 rs373111085 Disease: Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
58448 Q96RY7 (IFT140) R Q 621 rs11648609 Benign
58449 Q96RY7 (IFT140) P S 670 rs34900355 Benign
58450 Q96RY7 (IFT140) L R 777 rs34535263 Benign
58451 Q96RY7 (IFT140) D G 787 rs144938800 Benign
58452 Q96RY7 (IFT140) A V 1070 rs2235638 Benign
58453 Q96RY7 (IFT140) P R 1353 rs146666187 Benign
58454 Q96RY7 (IFT140) C R 1360 rs431905520 Disease: Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
58455 Q96S06 (LMF1) V A 164 rs35663121 Benign
58456 Q96S06 (LMF1) S P 203 rs11540337 Benign
58457 Q96S06 (LMF1) R Q 364 rs35168378 Benign
58458 Q96S06 (LMF1) P R 562 rs4984948 Benign
58459 Q96S07 (PRR25) T S 92 rs1005190 Benign
58460 Q96S07 (PRR25) P L 249 rs13337837 Benign
58461 Q96S19 (METTL26) L P 136 rs865791888 Benign
58462 Q96S37 (SLC22A12) G W 65 rs12800450 Benign
58463 Q96S37 (SLC22A12) R H 90 rs121907896 Disease: Hypouricemia renal 1 (RHUC1) [MIM:220150]
58464 Q96S37 (SLC22A12) R C 92 rs144328876 Benign
58465 Q96S37 (SLC22A12) V M 138 rs149722479 Disease: Hypouricemia renal 1 (RHUC1) [MIM:220150]
58466 Q96S37 (SLC22A12) G S 164 rs201181059 Disease: Hypouricemia renal 1 (RHUC1) [MIM:220150]
58467 Q96S37 (SLC22A12) T M 217 rs121907893 Disease: Hypouricemia renal 1 (RHUC1) [MIM:220150]
58468 Q96S37 (SLC22A12) A V 226 rs145738825 Benign
58469 Q96S37 (SLC22A12) E D 298 rs121907894 Disease: Hypouricemia renal 1 (RHUC1) [MIM:220150]
58470 Q96S37 (SLC22A12) Q L 312 - Benign
58471 Q96S37 (SLC22A12) G R 366 rs1047976958 Disease: Hypouricemia renal 1 (RHUC1) [MIM:220150]
58472 Q96S37 (SLC22A12) Q L 382 rs765990518 Disease: Hypouricemia renal 1 (RHUC1) [MIM:220150]
58473 Q96S37 (SLC22A12) L R 418 rs121907895 Disease: Hypouricemia renal 1 (RHUC1) [MIM:220150]
58474 Q96S37 (SLC22A12) M T 430 - Disease: Hypouricemia renal 1 (RHUC1) [MIM:220150]
58475 Q96S37 (SLC22A12) R H 477 rs773677616 Disease: Hypouricemia renal 1 (RHUC1) [MIM:220150]
58476 Q96S38 (RPS6KC1) P T 42 rs56087470 Benign
58477 Q96S38 (RPS6KC1) E K 96 rs56032860 Benign
58478 Q96S38 (RPS6KC1) P L 319 rs56369827 Benign
58479 Q96S38 (RPS6KC1) P L 424 rs56183862 Benign
58480 Q96S38 (RPS6KC1) A P 546 rs35281247 Benign
58481 Q96S38 (RPS6KC1) P R 561 rs17020314 Benign
58482 Q96S38 (RPS6KC1) N S 575 rs56060894 Benign
58483 Q96S38 (RPS6KC1) L F 853 rs34080597 Benign
58484 Q96S42 (NODAL) H R 165 rs1904589 Benign
58485 Q96S42 (NODAL) R Q 183 rs104894169 Disease: Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100]
58486 Q96S42 (NODAL) E K 203 rs10999334 Disease: Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100]
58487 Q96S42 (NODAL) G R 260 rs121909283 Disease: Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100]
58488 Q96S42 (NODAL) R C 275 rs781366461 Disease: Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100]
58489 Q96S42 (NODAL) V F 284 rs1310479365 Disease: Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100]
58490 Q96S44 (TP53RK) A T 25 - Benign
58491 Q96S44 (TP53RK) G D 42 - Disease: Galloway- Mowat syndrome 4 (GAMOS4) [MIM:617730]
58492 Q96S44 (TP53RK) T R 81 - Disease: Galloway- Mowat syndrome 4 (GAMOS4) [MIM:617730]
58493 Q96S44 (TP53RK) R Q 123 rs34983477 Benign
58494 Q96S44 (TP53RK) T A 129 rs11550540 Benign
58495 Q96S44 (TP53RK) T A 145 rs56008408 Benign
58496 Q96S44 (TP53RK) R L 243 - Disease: Galloway- Mowat syndrome 4 (GAMOS4) [MIM:617730]
58497 Q96S52 (PIGS) L P 34 - Disease: Glycosylphos phatidylinos itol biosynthesis defect 18 (GPIBD18) [MIM:618143]
58498 Q96S52 (PIGS) R H 253 rs34669811 Benign
58499 Q96S52 (PIGS) E G 308 rs1426262136 Disease: Glycosylphos phatidylinos itol biosynthesis defect 18 (GPIBD18) [MIM:618143]
58500 Q96S65 (CSRNP1) V I 453 rs1274958 Benign
58501 Q96S66 (CLCC1) D E 25 rs750180668 Disease: Retinitis pigmentosa (RP) [MIM:268000]
58502 Q96S66 (CLCC1) S R 368 rs168107 Benign
58503 Q96S96 (PEBP4) K E 125 rs1129474 Benign
58504 Q96S96 (PEBP4) E G 211 rs1047406 Benign
58505 Q96SA4 (SERINC2) G S 303 rs34728687 Benign
58506 Q96SB3 (PPP1R9B) A T 201 rs8079707 Benign
58507 Q96SB4 (SRPK1) I T 72 rs35519113 Benign
58508 Q96SB8 (SMC6) R G 464 rs35195207 Benign
58509 Q96SB8 (SMC6) A T 691 rs1065381 Benign
58510 Q96SB8 (SMC6) K Q 928 rs35257753 Benign
58511 Q96SB8 (SMC6) I M 1046 rs10221907 Benign
58512 Q96SD1 (DCLRE1C) H D 35 rs121908159 Disease: Omenn syndrome (OS) [MIM:603554]
58513 Q96SD1 (DCLRE1C) G V 118 - Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450]
58514 Q96SD1 (DCLRE1C) G E 135 - Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450]
58515 Q96SD1 (DCLRE1C) A V 140 rs41297016 Benign
58516 Q96SD1 (DCLRE1C) G R 153 rs41297018 Benign
58517 Q96SD1 (DCLRE1C) P R 171 rs35441642 Benign
58518 Q96SD1 (DCLRE1C) H R 243 rs12768894 Benign
58519 Q96SD1 (DCLRE1C) S C 320 rs41298896 Benign
58520 Q96SD1 (DCLRE1C) L M 329 rs41299658 Benign
58521 Q96SE0 (ABHD1) P Q 54 rs34127901 Benign
58522 Q96SE0 (ABHD1) D E 137 rs6715286 Benign
58523 Q96SE0 (ABHD1) W C 371 rs2304678 Benign
58524 Q96SE7 (ZNF347) M V 117 rs34656962 Benign
58525 Q96SE7 (ZNF347) N D 264 rs2195310 Benign
58526 Q96SF2 (CCT8L2) W R 320 rs2236639 Benign
58527 Q96SF7 (TBX15) H N 156 rs10494217 Benign
58528 Q96SI1 (KCTD15) G S 64 rs17849437 Benign
58529 Q96SJ8 (TSPAN18) V I 133 rs2291334 Benign
58530 Q96SK2 (TMEM209) P R 469 rs17857472 Benign
58531 Q96SK2 (TMEM209) H R 505 rs17854938 Benign
58532 Q96SK3 (ZNF607) S A 2 rs2909097 Benign
58533 Q96SK3 (ZNF607) R H 70 rs2385006 Benign
58534 Q96SK3 (ZNF607) F L 123 rs35735839 Benign
58535 Q96SK3 (ZNF607) S T 375 rs960689 Benign
58536 Q96SK3 (ZNF607) R H 433 rs2385006 Benign
58537 Q96SK3 (ZNF607) K R 531 rs958305 Benign
58538 Q96SK3 (ZNF607) A P 653 rs17856468 Benign
58539 Q96SL8 (FIZ1) T A 391 rs7247236 Benign
58540 Q96SN7 (ORAI2) A P 15 rs34947403 Benign
58541 Q96SN8 (CDK5RAP2) A P 183 rs13287734 Benign
58542 Q96SN8 (CDK5RAP2) E Q 289 rs4836822 Benign
58543 Q96SN8 (CDK5RAP2) R T 1045 rs3780679 Benign
58544 Q96SN8 (CDK5RAP2) N I 1330 rs7875294 Benign
58545 Q96SN8 (CDK5RAP2) V L 1540 rs4837768 Benign
58546 Q96SN8 (CDK5RAP2) R S 1607 rs16909747 Benign
58547 Q96SQ7 (ATOH8) L P 150 rs17851881 Benign
58548 Q96SQ9 (CYP2S1) P L 466 rs34971233 Benign
58549 Q96SR6 (ZNF382) E G 168 rs3108171 Benign
58550 Q96ST2 (IWS1) A V 390 rs34377117 Benign
58551 Q96ST2 (IWS1) V I 425 rs34785867 Benign
58552 Q96ST3 (SIN3A) M L 1156 rs60213317 Benign
58553 Q96ST8 (CEP89) R W 194 rs3764633 Benign
58554 Q96ST8 (CEP89) V A 398 rs4805825 Benign
58555 Q96SU4 (OSBPL9) P L 266 rs140080386 Benign
58556 Q96SW2 (CRBN) C R 391 rs797045036 Disease: Mental retardation, autosomal recessive 2A (MRT2A) [MIM:607417]
58557 Q96SZ5 (ADO) G W 25 rs2236295 Benign
58558 Q96SZ5 (ADO) P A 39 rs10995311 Benign
58559 Q96SZ5 (ADO) P S 266 rs569705 Benign
58560 Q96T17 (MAP7D2) N S 182 rs34519770 Benign
58561 Q96T21 (SECISBP2) Q E 428 rs45452691 Benign
58562 Q96T21 (SECISBP2) R Q 540 rs119461976 Disease: Abnormal thyroid hormone metabolism (ATHYHM) [MIM:609698]
58563 Q96T23 (RSF1) E D 304 rs58758035 Benign
58564 Q96T23 (RSF1) S P 475 rs7950873 Benign
58565 Q96T25 (ZIC5) S F 610 rs201876139 Benign
58566 Q96T51 (RUFY1) H Q 298 rs6879322 Benign
58567 Q96T53 (MBOAT4) T A 46 rs7813902 Benign
58568 Q96T53 (MBOAT4) G E 231 rs16876563 Benign
58569 Q96T54 (KCNK17) S G 21 rs10947804 Benign
58570 Q96T54 (KCNK17) M L 253 rs35677794 Benign
58571 Q96T54 (KCNK17) R Q 296 rs2758910 Benign
58572 Q96T55 (KCNK16) F L 215 rs9462527 Benign
58573 Q96T55 (KCNK16) A G 275 rs1535500 Benign
58574 Q96T55 (KCNK16) P H 301 rs11756091 Benign
58575 Q96T58 (SPEN) A V 970 rs848208 Benign
58576 Q96T58 (SPEN) L P 1091 rs848209 Benign
58577 Q96T58 (SPEN) D E 1363 rs12095818 Benign
58578 Q96T58 (SPEN) N D 2360 rs848210 Benign
58579 Q96T59 (CDRT15) R Q 24 rs17679866 Benign
58580 Q96T60 (PNKP) P S 20 rs3739168 Benign
58581 Q96T60 (PNKP) A V 63 rs3739173 Benign
58582 Q96T60 (PNKP) L F 176 rs267606957 Disease: Microcephaly , seizures, and developmenta l delay (MCSZ) [MIM:613402]
58583 Q96T60 (PNKP) R S 180 rs3739185 Benign
58584 Q96T60 (PNKP) Y N 196 rs3739186 Benign
58585 Q96T60 (PNKP) E K 326 rs267606956 Disease: Microcephaly , seizures, and developmenta l delay (MCSZ) [MIM:613402]
58586 Q96T60 (PNKP) G W 375 rs786203983 Disease: Ataxia- oculomotor apraxia 4 (AOA4) [MIM:616267]
58587 Q96T60 (PNKP) R P 462 rs376854895 Disease: Microcephaly , seizures, and developmenta l delay (MCSZ) [MIM:613402]
58588 Q96T60 (PNKP) V G 478 rs3739206 Benign
58589 Q96T68 (SETDB2) E G 117 rs7998427 Benign
58590 Q96T68 (SETDB2) V M 473 rs2057413 Benign
58591 Q96T76 (MMS19) A G 68 rs2275586 Benign
58592 Q96T76 (MMS19) R W 98 rs29001280 Benign
58593 Q96T76 (MMS19) V I 197 rs29001285 Benign
58594 Q96T76 (MMS19) R H 306 rs29001306 Benign
58595 Q96T76 (MMS19) M V 365 rs29001309 Benign
58596 Q96T76 (MMS19) Q P 409 rs29001311 Benign
58597 Q96T76 (MMS19) Q E 434 rs29001314 Benign
58598 Q96T76 (MMS19) V I 526 rs17112809 Benign
58599 Q96T76 (MMS19) A V 558 rs12360068 Benign
58600 Q96T76 (MMS19) G D 790 rs3740526 Benign
58601 Q96T76 (MMS19) R H 983 rs29001332 Benign
58602 Q96T83 (SLC9A7) L F 515 - Disease: Intellectual developmenta l disorder, X-linked 108 (MRX108) [MIM:301024]
58603 Q96T88 (UHRF1) D H 240 rs17886098 Benign
58604 Q96T88 (UHRF1) E K 379 rs17885791 Benign
58605 Q96T88 (UHRF1) A T 638 rs2307209 Benign
58606 Q96T88 (UHRF1) T M 642 rs17884843 Benign
58607 Q96T88 (UHRF1) L F 713 rs17883563 Benign
58608 Q96T92 (INSM2) D G 206 rs1958260 Benign
58609 Q96TA2 (YME1L1) R W 206 rs1057519312 Disease: Optic atrophy 11 (OPA11) [MIM:617302]
58610 Q96TC7 (RMDN3) Q H 33 rs11558807 Benign
58611 Q99062 (CSF3R) P H 229 rs764202764 Disease: -
58612 Q99062 (CSF3R) M T 231 rs3917973 Benign
58613 Q99062 (CSF3R) R C 308 rs606231473 Disease: Neutropenia, severe congenital 7, autosomal recessive (SCN7) [MIM:617014]
58614 Q99062 (CSF3R) D N 320 rs3918018 Benign
58615 Q99062 (CSF3R) Q R 346 rs3917974 Benign
58616 Q99062 (CSF3R) E K 405 rs3918019 Benign
58617 Q99062 (CSF3R) R Q 440 rs3918020 Benign
58618 Q99062 (CSF3R) D H 510 rs3917991 Benign
58619 Q99062 (CSF3R) Y H 562 rs3917996 Benign
58620 Q99062 (CSF3R) R C 583 rs3917997 Benign
58621 Q99062 (CSF3R) T N 640 rs121918426 Disease: Hereditary neutrophilia (NEUTROPHILI A) [MIM:162830]
58622 Q99081 (TCF12) G S 300 rs12442879 Benign
58623 Q99081 (TCF12) L R 483 rs36060670 Disease: Craniosynost osis 3 (CRS3) [MIM:615314]
58624 Q99081 (TCF12) L P 600 - Disease: Craniosynost osis 3 (CRS3) [MIM:615314]
58625 Q99081 (TCF12) Q E 614 rs886037641 Disease: Craniosynost osis 3 (CRS3) [MIM:615314]
58626 Q99102 (MUC4) G D 37 rs2259292 Benign
58627 Q99102 (MUC4) A P 41 rs3107764 Benign
58628 Q99102 (MUC4) T A 161 rs2293232 Benign
58629 Q99102 (MUC4) S A 585 rs2246901 Benign
58630 Q99102 (MUC4) A T 721 rs3749331 Benign
58631 Q99102 (MUC4) G D 1081 rs2259292 Benign
58632 Q99102 (MUC4) A T 1205 rs2293232 Benign
58633 Q99102 (MUC4) A S 1578 rs2246901 Benign
58634 Q99217 (AMELX) W S 4 rs104894738 Disease: Amelogenesis imperfecta 1E (AI1E) [MIM:301200]
58635 Q99217 (AMELX) T I 37 rs104894733 Disease: Amelogenesis imperfecta 1E (AI1E) [MIM:301200]
58636 Q99217 (AMELX) P T 56 rs104894736 Disease: Amelogenesis imperfecta 1E (AI1E) [MIM:301200]
58637 Q99250 (SCN2A) D N 12 - Disease: -
58638 Q99250 (SCN2A) R K 19 rs17183814 Benign
58639 Q99250 (SCN2A) D G 82 - Disease: -
58640 Q99250 (SCN2A) N K 132 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58641 Q99250 (SCN2A) M I 136 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58642 Q99250 (SCN2A) E G 169 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58643 Q99250 (SCN2A) R W 188 rs121917748 Disease: Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
58644 Q99250 (SCN2A) W C 191 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58645 Q99250 (SCN2A) W G 191 rs1057519525 Disease: -
58646 Q99250 (SCN2A) V E 208 - Disease: Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
58647 Q99250 (SCN2A) G D 211 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58648 Q99250 (SCN2A) N D 212 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58649 Q99250 (SCN2A) V D 213 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58650 Q99250 (SCN2A) R G 220 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58651 Q99250 (SCN2A) R Q 223 rs121917752 Disease: Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
58652 Q99250 (SCN2A) T S 236 rs1235044536 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58653 Q99250 (SCN2A) A S 240 - Disease: Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
58654 Q99250 (SCN2A) V I 251 rs1057519528 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58655 Q99250 (SCN2A) M V 252 rs387906687 Disease: Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
58656 Q99250 (SCN2A) V M 261 rs1057520413 Disease: Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
58657 Q99250 (SCN2A) A T 263 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58658 Q99250 (SCN2A) A V 263 rs387906686 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58659 Q99250 (SCN2A) R H 379 - Disease: -
58660 Q99250 (SCN2A) F Y 385 rs2228988 Benign
58661 Q99250 (SCN2A) V M 424 - Disease: -
58662 Q99250 (SCN2A) E G 430 rs796053183 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58663 Q99250 (SCN2A) A T 467 rs745774658 Disease: -
58664 Q99250 (SCN2A) R Q 524 rs186154973 Benign
58665 Q99250 (SCN2A) A V 575 rs986167267 Benign
58666 Q99250 (SCN2A) T K 674 - Disease: -
58667 Q99250 (SCN2A) T I 773 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58668 Q99250 (SCN2A) R Q 853 rs794727152 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58669 Q99250 (SCN2A) R L 856 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58670 Q99250 (SCN2A) I M 873 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58671 Q99250 (SCN2A) N T 876 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58672 Q99250 (SCN2A) V I 892 rs121917751 Disease: Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
58673 Q99250 (SCN2A) A V 896 rs1057519526 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58674 Q99250 (SCN2A) K N 905 rs796053119 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58675 Q99250 (SCN2A) K E 908 rs796053122 Disease: Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
58676 Q99250 (SCN2A) F C 928 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58677 Q99250 (SCN2A) R C 937 rs796053197 Disease: -
58678 Q99250 (SCN2A) R H 937 rs1553579488 Disease: -
58679 Q99250 (SCN2A) S I 987 rs796053124 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58680 Q99250 (SCN2A) E K 999 rs796053126 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58681 Q99250 (SCN2A) E V 999 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58682 Q99250 (SCN2A) N K 1001 - Disease: Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
58683 Q99250 (SCN2A) L I 1003 rs121917754 Disease: Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
58684 Q99250 (SCN2A) E K 1211 rs387906684 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58685 Q99250 (SCN2A) K E 1260 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58686 Q99250 (SCN2A) K Q 1260 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58687 Q99250 (SCN2A) R T 1312 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58688 Q99250 (SCN2A) A V 1316 rs796053130 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58689 Q99250 (SCN2A) R Q 1319 rs121917753 Disease: Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
58690 Q99250 (SCN2A) M V 1323 rs1057519523 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58691 Q99250 (SCN2A) V D 1326 rs796053131 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58692 Q99250 (SCN2A) V L 1326 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58693 Q99250 (SCN2A) L F 1330 rs121917749 Disease: Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
58694 Q99250 (SCN2A) S Y 1336 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58695 Q99250 (SCN2A) M T 1338 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58696 Q99250 (SCN2A) L P 1342 rs796053134 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58697 Q99250 (SCN2A) C Y 1344 rs1057519527 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58698 Q99250 (SCN2A) C R 1386 - Disease: -
58699 Q99250 (SCN2A) T M 1420 rs1382026643 Disease: -
58700 Q99250 (SCN2A) K E 1422 rs796053137 Disease: -
58701 Q99250 (SCN2A) G R 1460 - Disease: -
58702 Q99250 (SCN2A) I M 1473 rs387906685 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58703 Q99250 (SCN2A) Q P 1479 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58704 Q99250 (SCN2A) M T 1548 rs1057519524 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58705 Q99250 (SCN2A) L V 1563 rs121917750 Disease: Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
58706 Q99250 (SCN2A) Y C 1589 rs1553463119 Disease: Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745]
58707 Q99250 (SCN2A) G R 1593 rs886041259 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58708 Q99250 (SCN2A) T N 1623 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58709 Q99250 (SCN2A) R L 1629 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58710 Q99250 (SCN2A) G V 1634 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58711 Q99250 (SCN2A) L P 1650 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58712 Q99250 (SCN2A) L W 1660 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58713 Q99250 (SCN2A) G R 1744 - Disease: -
58714 Q99250 (SCN2A) L F 1829 rs1553463676 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58715 Q99250 (SCN2A) H R 1853 - Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58716 Q99250 (SCN2A) R G 1882 rs796053166 Disease: -
58717 Q99250 (SCN2A) R L 1882 rs794727444 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58718 Q99250 (SCN2A) R Q 1882 rs794727444 Disease: Epileptic encephalopat hy, early infantile, 11 (EIEE11) [MIM:613721]
58719 Q99250 (SCN2A) R H 1918 rs201718767 Benign
58720 Q99259 (GAD1) S C 12 rs121918345 Disease: Cerebral palsy, spastic quadriplegic 1 (CPSQ1) [MIM:603513]
58721 Q99259 (GAD1) I L 228 rs45566933 Benign
58722 Q99259 (GAD1) V G 474 rs769403 Benign
58723 Q99259 (GAD1) R Q 532 rs769402 Benign
58724 Q99259 (GAD1) F L 565 rs1049736 Benign
58725 Q99424 (ACOX2) R W 225 rs150832314 Disease: Congenital bile acid synthesis defect 6 (CBAS6) [MIM:617308]
58726 Q99435 (NELL2) V I 5 rs2658973 Benign
58727 Q99435 (NELL2) N D 347 rs17574839 Benign
58728 Q99435 (NELL2) P L 631 rs1050710 Benign
58729 Q99436 (PSMB7) V A 39 rs4574 Benign
58730 Q99440 (LINC01587) N K 15 rs886532 Benign
58731 Q99445 (GML) R C 54 rs3764795 Benign
58732 Q99453 (PHOX2B) R L 100 rs104893855 Benign
58733 Q99453 (PHOX2B) R G 141 rs28939716 Benign
58734 Q99453 (PHOX2B) R Q 141 - Disease: Congenital central hypoventilat ion syndrome (CCHS) [MIM:209880]
58735 Q99453 (PHOX2B) Q R 143 - Disease: Congenital central hypoventilat ion syndrome (CCHS) [MIM:209880]
58736 Q99453 (PHOX2B) G D 197 rs104893856 Benign
58737 Q99456 (KRT12) P S 15 rs11650915 Benign
58738 Q99456 (KRT12) R W 20 rs17566772 Benign
58739 Q99456 (KRT12) M T 129 rs28936695 Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58740 Q99456 (KRT12) M V 129 rs267607387 Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58741 Q99456 (KRT12) Q P 130 rs58864803 Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58742 Q99456 (KRT12) L P 132 rs886038212 Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58743 Q99456 (KRT12) L V 132 - Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58744 Q99456 (KRT12) R G 135 rs58410481 Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58745 Q99456 (KRT12) R I 135 rs57218384 Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58746 Q99456 (KRT12) R S 135 rs61282718 Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58747 Q99456 (KRT12) R T 135 rs57218384 Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58748 Q99456 (KRT12) A P 137 rs58038639 Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58749 Q99456 (KRT12) L Q 140 - Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58750 Q99456 (KRT12) L R 140 rs58918655 Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58751 Q99456 (KRT12) V L 143 rs58343600 Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58752 Q99456 (KRT12) I S 426 rs59350319 Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58753 Q99456 (KRT12) Y C 429 rs59202432 Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58754 Q99456 (KRT12) Y D 429 rs58162394 Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58755 Q99456 (KRT12) R P 430 rs62635290 Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58756 Q99456 (KRT12) L R 433 rs267607386 Disease: Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100]
58757 Q99457 (NAP1L3) P A 224 rs1045686 Benign
58758 Q99459 (CDC5L) Y C 459 rs11572006 Benign
58759 Q99466 (NOTCH4) K Q 117 rs915894 Benign
58760 Q99466 (NOTCH4) P L 204 rs2071282 Benign
58761 Q99466 (NOTCH4) P L 206 rs2071282 Benign
58762 Q99466 (NOTCH4) S L 244 rs8192585 Benign
58763 Q99466 (NOTCH4) D G 272 rs520692 Benign
58764 Q99466 (NOTCH4) Q H 284 rs520803 Benign
58765 Q99466 (NOTCH4) E Q 317 - Benign
58766 Q99466 (NOTCH4) T A 320 rs422951 Benign
58767 Q99466 (NOTCH4) G S 534 rs8192591 Benign
58768 Q99466 (NOTCH4) S I 809 rs3132961 Benign
58769 Q99466 (NOTCH4) K R 851 rs2022060 Benign
58770 Q99466 (NOTCH4) G R 942 rs17604492 Benign
58771 Q99466 (NOTCH4) R P 1346 rs8192573 Benign
58772 Q99467 (CD180) V L 20 rs5744463 Benign
58773 Q99467 (CD180) N K 53 rs16875312 Benign
58774 Q99467 (CD180) S R 99 rs2230520 Benign
58775 Q99467 (CD180) D N 259 rs5744525 Benign
58776 Q99467 (CD180) V M 356 rs56752081 Benign
58777 Q99467 (CD180) T A 430 rs2230523 Benign
58778 Q99467 (CD180) F L 648 rs2230524 Benign
58779 Q99469 (STAC) N S 262 rs7634545 Benign
58780 Q99470 (SDF2) A T 15 rs35404078 Benign
58781 Q99489 (DDO) Q E 189 rs17622 Benign
58782 Q99489 (DDO) H Y 230 rs17621 Benign
58783 Q99489 (DDO) L R 255 rs17623 Benign
58784 Q99490 (AGAP2) G S 507 rs2301553 Benign
58785 Q99490 (AGAP2) G V 1124 rs238521 Benign
58786 Q99497 (PARK7) M I 26 rs74315351 Disease: Parkinson disease 7 (PARK7) [MIM:606324]
58787 Q99497 (PARK7) A S 39 rs137853051 Disease: -
58788 Q99497 (PARK7) E D 64 rs74315353 Disease: Parkinson disease 7 (PARK7) [MIM:606324]
58789 Q99497 (PARK7) R Q 98 rs71653619 Benign
58790 Q99497 (PARK7) A T 104 rs774005786 Disease: Parkinson disease 7 (PARK7) [MIM:606324]
58791 Q99497 (PARK7) D A 149 rs74315352 Disease: Parkinson disease 7 (PARK7) [MIM:606324]
58792 Q99497 (PARK7) G S 150 rs368420490 Benign
58793 Q99497 (PARK7) L P 166 rs28938172 Disease: Parkinson disease 7 (PARK7) [MIM:606324]
58794 Q99497 (PARK7) A S 171 rs777026628 Benign
58795 Q99500 (S1PR3) R Q 243 rs34075341 Benign
58796 Q99501 (GAS2L1) S G 490 rs34124440 Benign
58797 Q99502 (EYA1) P A 20 rs1445404 Benign
58798 Q99502 (EYA1) E K 41 rs561111097 Benign
58799 Q99502 (EYA1) P S 95 - Disease: Branchiootor enal syndrome 1 (BOR1) [MIM:113650]
58800 Q99502 (EYA1) G S 140 - Disease: Branchiootor enal syndrome 1 (BOR1) [MIM:113650]
58801 Q99502 (EYA1) S G 242 rs191838840 Disease: Branchiootic syndrome 1 (BOS1) [MIM:602588]
58802 Q99502 (EYA1) E K 363 rs121909198 Disease: Anterior segment anomalies with or without cataract (ASA) [MIM:602588]
58803 Q99502 (EYA1) E V 363 - Disease: Branchiootor enal syndrome 1 (BOR1) [MIM:113650]
58804 Q99502 (EYA1) G S 426 rs121909199 Disease: Branchiootor enal syndrome 1 (BOR1) [MIM:113650]
58805 Q99502 (EYA1) D G 429 - Disease: Branchiootor enal syndrome 1 (BOR1) [MIM:113650]
58806 Q99502 (EYA1) R Q 440 rs121909196 Disease: Branchiootor enal syndrome 1 (BOR1) [MIM:113650]
58807 Q99502 (EYA1) S P 487 rs121909200 Disease: Branchiootor enal syndrome 1 (BOR1) [MIM:113650]
58808 Q99502 (EYA1) L R 505 rs121909201 Disease: Branchiootor enal syndrome 1 (BOR1) [MIM:113650]
58809 Q99502 (EYA1) L P 514 rs112340154 Disease: Branchiootor enal syndrome 1 (BOR1) [MIM:113650]
58810 Q99502 (EYA1) Y C 527 - Disease: Branchiootor enal syndrome 1 (BOR1) [MIM:113650]
58811 Q99502 (EYA1) R G 547 rs121909197 Disease: Anterior segment anomalies with or without cataract (ASA) [MIM:602588]
58812 Q99502 (EYA1) M T 569 - Disease: Branchiootor enal syndrome 1 (BOR1) [MIM:113650]
58813 Q99502 (EYA1) L P 583 rs397517920 Disease: Branchiootor enal syndrome 1 (BOR1) [MIM:113650]
58814 Q99518 (FMO2) D G 36 rs2020870 Benign
58815 Q99518 (FMO2) V I 59 rs55708639 Benign
58816 Q99518 (FMO2) F Y 69 rs28745274 Benign
58817 Q99518 (FMO2) F S 81 rs2020860 Benign
58818 Q99518 (FMO2) F S 182 rs2307492 Benign
58819 Q99518 (FMO2) S L 195 rs2020862 Benign
58820 Q99518 (FMO2) R Q 238 rs28369895 Benign
58821 Q99518 (FMO2) E G 314 rs2020863 Benign
58822 Q99518 (FMO2) R T 391 rs28369899 Benign
58823 Q99518 (FMO2) N K 413 rs2020865 Benign
58824 Q99519 (NEU1) V M 54 - Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58825 Q99519 (NEU1) G V 68 - Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58826 Q99519 (NEU1) P L 80 rs104893985 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58827 Q99519 (NEU1) G A 88 rs34712643 Benign
58828 Q99519 (NEU1) L F 90 rs374556080 Benign
58829 Q99519 (NEU1) L R 91 rs104893972 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58830 Q99519 (NEU1) V A 179 rs150302766 Benign
58831 Q99519 (NEU1) S G 182 rs398123392 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58832 Q99519 (NEU1) R Q 208 rs375104221 Benign
58833 Q99519 (NEU1) P A 210 rs151177689 Benign
58834 Q99519 (NEU1) V A 217 rs146850952 Benign
58835 Q99519 (NEU1) V M 217 rs28940583 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58836 Q99519 (NEU1) G A 219 rs754068739 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58837 Q99519 (NEU1) T M 222 rs201684013 Benign
58838 Q99519 (NEU1) R P 225 rs104893980 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58839 Q99519 (NEU1) G R 227 rs769765227 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58840 Q99519 (NEU1) L H 231 rs762400331 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58841 Q99519 (NEU1) D N 234 rs143868999 Benign
58842 Q99519 (NEU1) W R 240 rs104893978 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58843 Q99519 (NEU1) G R 243 rs104893983 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58844 Q99519 (NEU1) G S 248 rs373311653 Benign
58845 Q99519 (NEU1) G S 252 rs145177628 Benign
58846 Q99519 (NEU1) F Y 260 rs104893977 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58847 Q99519 (NEU1) L F 270 - Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58848 Q99519 (NEU1) L P 270 - Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58849 Q99519 (NEU1) A T 279 rs368320390 Benign
58850 Q99519 (NEU1) R S 294 rs190549838 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58851 Q99519 (NEU1) A V 298 rs104893981 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58852 Q99519 (NEU1) P S 316 rs104893979 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58853 Q99519 (NEU1) G S 328 rs534846786 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58854 Q99519 (NEU1) P Q 335 rs749996046 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58855 Q99519 (NEU1) R G 341 rs751458617 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58856 Q99519 (NEU1) S R 351 rs377573360 Benign
58857 Q99519 (NEU1) R Q 357 rs139301823 Benign
58858 Q99519 (NEU1) L P 363 rs193922915 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58859 Q99519 (NEU1) Y C 370 rs1310267862 Disease: Sialidosis (SIALIDOSIS) [MIM:256550]
58860 Q99523 (SORT1) D Y 358 rs2228605 Benign
58861 Q99527 (GPER1) P L 16 rs11544331 Benign
58862 Q99538 (LGMN) V I 18 rs2236264 Benign
58863 Q99541 (PLIN2) S P 251 rs35568725 Benign
58864 Q99542 (MMP19) R C 103 rs17844794 Benign
58865 Q99542 (MMP19) P S 245 rs1056784 Benign
58866 Q99542 (MMP19) P T 488 rs17118042 Benign
58867 Q99542 (MMP19) T M 491 rs17844806 Benign
58868 Q99547 (MPHOSPH6) I V 58 rs2303267 Benign
58869 Q99550 (MPHOSPH9) G S 277 rs36121382 Benign
58870 Q99550 (MPHOSPH9) A D 1078 rs1260318 Benign
58871 Q99551 (MTERF1) A T 231 rs17856025 Benign
58872 Q99551 (MTERF1) A T 294 rs10266424 Benign
58873 Q99558 (MAP3K14) S N 140 rs11574819 Benign
58874 Q99558 (MAP3K14) T M 255 rs11574820 Benign
58875 Q99558 (MAP3K14) H Y 674 rs11867907 Benign
58876 Q99558 (MAP3K14) T A 764 rs56302559 Benign
58877 Q99558 (MAP3K14) P H 928 rs56036201 Benign
58878 Q99567 (NUP88) N S 289 rs1806245 Benign
58879 Q99567 (NUP88) D Y 434 - Disease: Fetal akinesia deformation sequence 4 (FADS4) [MIM:618393]
58880 Q99570 (PIK3R4) F L 273 rs55951445 Benign
58881 Q99570 (PIK3R4) R H 342 rs56295394 Benign
58882 Q99570 (PIK3R4) R W 347 rs34797184 Benign
58883 Q99570 (PIK3R4) T I 388 rs34663155 Benign
58884 Q99570 (PIK3R4) D N 393 rs34633532 Benign
58885 Q99570 (PIK3R4) L V 699 rs56369596 Benign
58886 Q99570 (PIK3R4) G V 1043 rs56160735 Benign
58887 Q99571 (P2RX4) G C 3 rs200492184 Benign
58888 Q99571 (P2RX4) A S 6 rs1044249 Benign
58889 Q99571 (P2RX4) G S 135 rs765866317 Benign
58890 Q99571 (P2RX4) S G 242 rs25644 Benign
58891 Q99571 (P2RX4) Y C 315 rs28360472 Benign
58892 Q99572 (P2RX7) V A 76 rs17525809 Benign
58893 Q99572 (P2RX7) R W 117 rs28360445 Benign
58894 Q99572 (P2RX7) R L 125 rs201668926 Benign
58895 Q99572 (P2RX7) Q R 148 rs150235326 Benign
58896 Q99572 (P2RX7) G R 150 rs28360447 Benign
58897 Q99572 (P2RX7) Y H 155 rs208294 Benign
58898 Q99572 (P2RX7) T M 205 rs140915863 Benign
58899 Q99572 (P2RX7) R H 264 rs149639375 Benign
58900 Q99572 (P2RX7) R C 270 rs16950860 Benign
58901 Q99572 (P2RX7) R H 270 rs7958311 Benign
58902 Q99572 (P2RX7) R H 276 rs7958316 Benign
58903 Q99572 (P2RX7) Y H 288 rs146725537 Benign
58904 Q99572 (P2RX7) R Q 307 rs28360457 Benign
58905 Q99572 (P2RX7) A T 348 rs1718119 Benign
58906 Q99572 (P2RX7) T S 357 rs2230911 Benign
58907 Q99572 (P2RX7) N S 361 rs201921967 Benign
58908 Q99572 (P2RX7) P R 430 rs10160951 Benign
58909 Q99572 (P2RX7) A V 433 rs28360459 Benign
58910 Q99572 (P2RX7) Q R 460 rs2230912 Benign
58911 Q99572 (P2RX7) E A 496 rs3751143 Benign
58912 Q99572 (P2RX7) H Q 521 rs2230913 Benign
58913 Q99572 (P2RX7) V I 522 rs34219304 Benign
58914 Q99572 (P2RX7) A V 535 rs201256156 Benign
58915 Q99572 (P2RX7) R Q 544 rs34567077 Benign
58916 Q99572 (P2RX7) I N 568 rs1653624 Benign
58917 Q99572 (P2RX7) R Q 578 rs28360460 Benign
58918 Q99574 (SERPINI1) S P 49 rs121909051 Disease: Encephalopat hy, familial, with neuroserpin inclusion bodies (FENIB) [MIM:604218]
58919 Q99574 (SERPINI1) S R 52 - Disease: Encephalopat hy, familial, with neuroserpin inclusion bodies (FENIB) [MIM:604218]
58920 Q99575 (POP1) S L 127 rs3824145 Benign
58921 Q99575 (POP1) E A 460 rs2306131 Benign
58922 Q99575 (POP1) D Y 511 rs1060505025 Disease: Anauxetic dysplasia 2 (ANXD2) [MIM:617396]
58923 Q99575 (POP1) K N 522 rs17184326 Benign
58924 Q99575 (POP1) P S 582 rs1060505023 Disease: Anauxetic dysplasia 2 (ANXD2) [MIM:617396]
58925 Q99575 (POP1) G E 583 rs374828868 Disease: Anauxetic dysplasia 2 (ANXD2) [MIM:617396]
58926 Q99575 (POP1) L V 994 rs17856355 Benign
58927 Q99583 (MNT) A T 109 rs7207965 Benign
58928 Q99590 (SCAF11) F Y 657 rs7315731 Benign
58929 Q99590 (SCAF11) V L 1261 rs11574973 Benign
58930 Q99592 (ZBTB18) E G 132 rs1048824 Benign
58931 Q99593 (TBX5) Q K 49 rs104894383 Disease: Holt-Oram syndrome (HOS) [MIM:142900]
58932 Q99593 (TBX5) I T 54 rs104894384 Disease: Holt-Oram syndrome (HOS) [MIM:142900]
58933 Q99593 (TBX5) G R 80 rs104894381 Disease: Holt-Oram syndrome (HOS) [MIM:142900]
58934 Q99593 (TBX5) P S 132 - Disease: -
58935 Q99593 (TBX5) A T 143 rs374906778 Disease: -
58936 Q99593 (TBX5) S A 154 - Disease: -
58937 Q99593 (TBX5) H D 170 - Disease: -
58938 Q99593 (TBX5) R Q 237 rs104894378 Disease: Holt-Oram syndrome (HOS) [MIM:142900]
58939 Q99593 (TBX5) R W 237 rs104894382 Disease: Holt-Oram syndrome (HOS) [MIM:142900]
58940 Q99594 (TEAD3) T M 254 rs35080860 Benign
58941 Q99595 (TIMM17A) V I 113 rs4648 Benign
58942 Q99608 (NDN) V A 318 rs114077338 Benign
58943 Q99611 (SEPHS2) P A 269 rs1804600 Benign
58944 Q99612 (KLF6) W R 64 rs121909142 Benign
58945 Q99612 (KLF6) S P 116 rs121909139 Benign
58946 Q99612 (KLF6) A D 123 rs121909141 Benign
58947 Q99612 (KLF6) S R 155 rs121909144 Benign
58948 Q99612 (KLF6) L P 169 rs121909143 Benign
58949 Q99612 (KLF6) S L 180 rs372338890 Benign
58950 Q99614 (TTC1) N S 290 rs553283797 Benign
58951 Q99616 (CCL13) A S 5 rs3136677 Benign
58952 Q99616 (CCL13) N S 29 rs34566308 Benign
58953 Q99622 (C12orf57) L Q 51 rs587776955 Disease: Temtamy syndrome (TEMTYS) [MIM:218340]
58954 Q99626 (CDX2) P S 293 rs1805107 Benign
58955 Q99638 (RAD9A) C F 3 rs11575913 Benign
58956 Q99638 (RAD9A) L Q 71 rs2422490 Benign
58957 Q99638 (RAD9A) S A 100 rs2066492 Benign
58958 Q99638 (RAD9A) H R 239 rs17880039 Benign
58959 Q99638 (RAD9A) M T 307 rs17882466 Benign
58960 Q99640 (PKMYT1) E Q 103 rs55834293 Benign
58961 Q99640 (PKMYT1) R C 140 rs4149796 Benign
58962 Q99640 (PKMYT1) R H 246 rs35192104 Benign
58963 Q99640 (PKMYT1) E K 351 rs56382954 Benign
58964 Q99640 (PKMYT1) P R 417 rs4149800 Benign
58965 Q99640 (PKMYT1) V A 445 rs10546 Benign
58966 Q99645 (EPYC) S C 150 rs17784152 Benign
58967 Q99650 (OSMR) H Q 187 rs34675408 Benign
58968 Q99650 (OSMR) G W 210 rs17855841 Benign
58969 Q99650 (OSMR) E K 527 rs10941412 Benign
58970 Q99650 (OSMR) D N 553 rs2278329 Benign
58971 Q99650 (OSMR) G A 618 rs63750560 Disease: Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250]
58972 Q99650 (OSMR) D V 647 rs387906821 Disease: Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250]
58973 Q99650 (OSMR) I T 691 rs63750567 Disease: Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250]
58974 Q99650 (OSMR) P L 694 rs387906822 Disease: Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250]
58975 Q99650 (OSMR) K T 697 rs387906823 Disease: Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250]
58976 Q99650 (OSMR) P S 936 rs3749737 Benign
58977 Q99650 (OSMR) P R 959 rs34080825 Benign
58978 Q99661 (KIF2C) I L 449 rs4342887 Benign
58979 Q99665 (IL12RB2) M V 13 rs17129772 Benign
58980 Q99665 (IL12RB2) R Q 149 rs17129792 Benign
58981 Q99665 (IL12RB2) I V 185 rs2307146 Benign
58982 Q99665 (IL12RB2) T I 201 rs7526769 Benign
58983 Q99665 (IL12RB2) R G 313 - Benign
58984 Q99665 (IL12RB2) G R 420 rs2307148 Benign
58985 Q99665 (IL12RB2) G S 420 rs2307148 Benign
58986 Q99665 (IL12RB2) Q H 426 rs2307145 Benign
58987 Q99665 (IL12RB2) G D 465 rs2307153 Benign
58988 Q99665 (IL12RB2) A V 625 rs2307154 Benign
58989 Q99665 (IL12RB2) H R 720 rs1242019108 Benign
58990 Q99665 (IL12RB2) L R 808 rs17838066 Benign
58991 Q99674 (CGREF1) I M 116 rs2384572 Benign
58992 Q99674 (CGREF1) A V 212 rs11893478 Benign
58993 Q99674 (CGREF1) E G 226 rs74360681 Benign
58994 Q99674 (CGREF1) K E 232 rs11889832 Benign
58995 Q99674 (CGREF1) K N 232 rs11889831 Benign
58996 Q99674 (CGREF1) G E 243 rs1057389 Benign
58997 Q99675 (CGRRF1) C Y 117 rs11555279 Benign
58998 Q99676 (ZNF184) A S 27 rs1883216 Benign
58999 Q99678 (GPR20) H R 230 rs10875472 Benign
59000 Q99678 (GPR20) R C 260 rs36092215 Benign
59001 Q99678 (GPR20) G S 313 rs34591516 Benign
59002 Q99683 (MAP3K5) G R 1006 rs45626535 Benign
59003 Q99683 (MAP3K5) I T 1214 rs56379668 Benign
59004 Q99683 (MAP3K5) I V 1250 rs35551087 Benign
59005 Q99683 (MAP3K5) T I 1314 rs45599539 Benign
59006 Q99683 (MAP3K5) D N 1315 rs41288957 Benign
59007 Q99684 (GFI1) S N 36 rs34631763 Benign
59008 Q99684 (GFI1) N S 382 rs28936381 Disease: Neutropenia, severe congenital 2, autosomal dominant (SCN2) [MIM:613107]
59009 Q99684 (GFI1) K R 403 rs28936382 Disease: Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA) [MIM:607847]
59010 Q99689 (FEZ1) D E 123 rs597570 Benign
59011 Q99697 (PITX2) L Q 100 rs104893857 Disease: Axenfeld- Rieger syndrome 1 (RIEG1) [MIM:180500]
59012 Q99697 (PITX2) R H 108 rs104893862 Disease: Ring dermoid of cornea (RDC) [MIM:180550]
59013 Q99697 (PITX2) P L 110 rs1057519484 Disease: Axenfeld- Rieger syndrome 1 (RIEG1) [MIM:180500]
59014 Q99697 (PITX2) P R 110 - Disease: Axenfeld- Rieger syndrome 1 (RIEG1) [MIM:180500]
59015 Q99697 (PITX2) T P 114 rs104893858 Disease: Axenfeld- Rieger syndrome 1 (RIEG1) [MIM:180500]
59016 Q99697 (PITX2) R H 115 rs104893861 Disease: Anterior segment dysgenesis 4 (ASGD4) [MIM:137600]
59017 Q99697 (PITX2) V L 129 rs121909249 Disease: Axenfeld- Rieger syndrome 1 (RIEG1) [MIM:180500]
59018 Q99697 (PITX2) R W 130 rs121909248 Disease: Anterior segment dysgenesis 4 (ASGD4) [MIM:137600]
59019 Q99697 (PITX2) K E 134 rs387906810 Disease: Axenfeld- Rieger syndrome 1 (RIEG1) [MIM:180500]
59020 Q99697 (PITX2) R C 136 - Disease: Axenfeld- Rieger syndrome 1 (RIEG1) [MIM:180500]
59021 Q99697 (PITX2) R P 137 rs104893859 Disease: Axenfeld- Rieger syndrome 1 (RIEG1) [MIM:180500]
59022 Q99697 (PITX2) L V 151 - Disease: Axenfeld- Rieger syndrome 1 (RIEG1) [MIM:180500]
59023 Q99697 (PITX2) N T 154 - Disease: Axenfeld- Rieger syndrome 1 (RIEG1) [MIM:180500]
59024 Q99698 (LYST) H R 123 rs3768067 Benign
59025 Q99698 (LYST) L V 192 rs7524261 Benign
59026 Q99698 (LYST) E G 702 rs1063129 Benign
59027 Q99698 (LYST) S N 1017 rs10465613 Benign
59028 Q99698 (LYST) F V 1397 - Disease: Chediak- Higashi syndrome (CHS) [MIM:214500]
59029 Q99698 (LYST) R H 1563 rs80338657 Disease: Chediak- Higashi syndrome (CHS) [MIM:214500]
59030 Q99698 (LYST) I V 1907 rs370441301 Disease: Chediak- Higashi syndrome (CHS) [MIM:214500]
59031 Q99698 (LYST) Q H 1949 rs6665568 Benign
59032 Q99698 (LYST) V D 1999 rs28942077 Disease: Chediak- Higashi syndrome (CHS) [MIM:214500]
59033 Q99698 (LYST) T M 2116 rs7541041 Benign
59034 Q99698 (LYST) F Y 2598 rs34642241 Benign
59035 Q99698 (LYST) G D 2804 rs35333195 Benign
59036 Q99698 (LYST) V I 2936 rs2753327 Benign
59037 Q99700 (ATXN2) L V 107 rs695871 Benign
59038 Q99700 (ATXN2) S N 248 rs7969300 Benign
59039 Q99705 (MCHR1) T M 25 rs117372135 Benign
59040 Q99705 (MCHR1) D V 28 rs112405400 Benign
59041 Q99705 (MCHR1) N D 32 rs133072 Benign
59042 Q99705 (MCHR1) G R 34 rs765971090 Benign
59043 Q99705 (MCHR1) G R 103 rs11914085 Benign
59044 Q99705 (MCHR1) R H 210 rs750210146 Benign
59045 Q99705 (MCHR1) Y H 250 - Benign
59046 Q99705 (MCHR1) T M 305 rs550313335 Benign
59047 Q99705 (MCHR1) R Q 317 rs45439291 Benign
59048 Q99705 (MCHR1) P S 377 rs539260735 Benign
59049 Q99705 (MCHR1) T M 411 rs149604804 Benign
59050 Q99706 (KIR2DL4) Y C 53 rs618835 Benign
59051 Q99706 (KIR2DL4) V L 87 rs773420112 Benign
59052 Q99706 (KIR2DL4) A T 138 rs1051454 Benign
59053 Q99706 (KIR2DL4) P A 209 rs1051456 Benign
59054 Q99706 (KIR2DL4) D N 271 - Benign
59055 Q99706 (KIR2DL4) N H 371 rs1185997484 Benign
59056 Q99707 (MTR) R Q 52 rs12749581 Benign
59057 Q99707 (MTR) R K 61 - Benign
59058 Q99707 (MTR) C Y 255 rs1140598 Benign
59059 Q99707 (MTR) D N 314 rs2229274 Benign
59060 Q99707 (MTR) D G 919 rs1805087 Benign
59061 Q99707 (MTR) H D 920 rs121913579 Disease: Homocystinur ia-megalobla stic anemia, cblG complementat ion type (HMAG) [MIM:250940]
59062 Q99707 (MTR) P L 1173 rs121913578 Disease: Homocystinur ia-megalobla stic anemia, cblG complementat ion type (HMAG) [MIM:250940]
59063 Q99708 (RBBP8) R W 100 rs373804633 Disease: Seckel syndrome 2 (SCKL2) [MIM:606744]
59064 Q99708 (RBBP8) K N 357 rs34678569 Benign
59065 Q99708 (RBBP8) H Y 387 rs1804732 Benign
59066 Q99712 (KCNJ15) M L 30 rs3746875 Benign
59067 Q99712 (KCNJ15) G D 98 rs2230033 Benign
59068 Q99714 (HSD17B10) V L 12 - Disease: HDS10 mitochondria l disease (HSD10MD) [MIM:300438]
59069 Q99714 (HSD17B10) D G 86 rs587777651 Disease: HDS10 mitochondria l disease (HSD10MD) [MIM:300438]
59070 Q99714 (HSD17B10) L V 122 rs28935476 Disease: HDS10 mitochondria l disease (HSD10MD) [MIM:300438]
59071 Q99714 (HSD17B10) R C 130 rs28935475 Disease: HDS10 mitochondria l disease (HSD10MD) [MIM:300438]
59072 Q99714 (HSD17B10) Q H 165 - Disease: HDS10 mitochondria l disease (HSD10MD) [MIM:300438]
59073 Q99714 (HSD17B10) V M 176 - Disease: HDS10 mitochondria l disease (HSD10MD) [MIM:300438]
59074 Q99714 (HSD17B10) P S 210 - Disease: HDS10 mitochondria l disease (HSD10MD) [MIM:300438]
59075 Q99714 (HSD17B10) K E 212 rs886041974 Disease: HDS10 mitochondria l disease (HSD10MD) [MIM:300438]
59076 Q99714 (HSD17B10) R Q 226 rs1556894502 Disease: HDS10 mitochondria l disease (HSD10MD) [MIM:300438]
59077 Q99714 (HSD17B10) N S 247 rs122461163 Disease: HDS10 mitochondria l disease (HSD10MD) [MIM:300438]
59078 Q99714 (HSD17B10) E Q 249 rs62626305 Disease: HDS10 mitochondria l disease (HSD10MD) [MIM:300438]
59079 Q99715 (COL12A1) A P 461 rs34730529 Benign
59080 Q99715 (COL12A1) I T 1738 rs240736 Benign
59081 Q99715 (COL12A1) R Q 2021 rs34438461 Benign
59082 Q99715 (COL12A1) E V 2160 rs35523808 Benign
59083 Q99715 (COL12A1) I T 2334 rs796052093 Disease: Bethlem myopathy 2 (BTHLM2) [MIM:616471]
59084 Q99715 (COL12A1) I V 2596 rs35710072 Benign
59085 Q99715 (COL12A1) G D 2786 rs796052094 Disease: Bethlem myopathy 2 (BTHLM2) [MIM:616471]
59086 Q99715 (COL12A1) Q H 3048 rs57396313 Benign
59087 Q99715 (COL12A1) G S 3058 rs970547 Benign
59088 Q99720 (SIGMAR1) Q P 2 rs1800866 Benign
59089 Q99720 (SIGMAR1) E Q 102 rs387906829 Disease: Amyotrophic lateral sclerosis 16, juvenile (ALS16) [MIM:614373]
59090 Q99720 (SIGMAR1) R Q 211 rs192644838 Benign
59091 Q99726 (SLC30A3) R C 298 rs146572471 Benign
59092 Q99728 (BARD1) P S 24 rs1048108 Benign
59093 Q99728 (BARD1) K E 153 rs753377280 Benign
59094 Q99728 (BARD1) S G 186 rs16852741 Benign
59095 Q99728 (BARD1) S C 241 rs3738885 Benign
59096 Q99728 (BARD1) R S 378 rs2229571 Benign
59097 Q99728 (BARD1) V M 507 rs2070094 Benign
59098 Q99728 (BARD1) C S 557 rs28997576 Benign
59099 Q99728 (BARD1) C R 645 rs2228456 Benign
59100 Q99728 (BARD1) R C 658 rs3738888 Benign
59101 Q99728 (BARD1) S F 728 rs13389423 Benign
59102 Q99732 (LITAF) T M 49 rs141862602 Disease: Charcot- Marie-Tooth disease 1C (CMT1C) [MIM:601098]
59103 Q99732 (LITAF) I V 92 rs4280262 Benign
59104 Q99732 (LITAF) G S 112 rs104894519 Disease: Charcot- Marie-Tooth disease 1C (CMT1C) [MIM:601098]
59105 Q99732 (LITAF) T N 115 rs104894520 Disease: Charcot- Marie-Tooth disease 1C (CMT1C) [MIM:601098]
59106 Q99732 (LITAF) W G 116 rs104894521 Disease: Charcot- Marie-Tooth disease 1C (CMT1C) [MIM:601098]
59107 Q99732 (LITAF) L V 122 rs104894522 Disease: Charcot- Marie-Tooth disease 1C (CMT1C) [MIM:601098]
59108 Q99735 (MGST2) A V 101 rs8192111 Benign
59109 Q99741 (CDC6) T A 238 rs4135010 Benign
59110 Q99741 (CDC6) D N 295 rs4135012 Benign
59111 Q99741 (CDC6) T M 299 rs4135013 Benign
59112 Q99741 (CDC6) T R 323 rs387906842 Disease: Meier-Gorlin syndrome 5 (MGORS5) [MIM:613805]
59113 Q99741 (CDC6) R H 378 rs4135016 Benign
59114 Q99741 (CDC6) V I 441 rs13706 Benign
59115 Q99743 (NPAS2) T A 394 rs2305160 Benign
59116 Q99743 (NPAS2) S L 471 rs11541353 Benign
59117 Q99747 (NAPG) P S 92 rs2228300 Benign
59118 Q99747 (NAPG) K N 281 rs2305370 Benign
59119 Q99748 (NRTN) A S 96 rs575363266 Benign
59120 Q99758 (ABCA3) L P 101 rs121909182 Disease: Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
59121 Q99758 (ABCA3) N H 140 rs45447801 Benign
59122 Q99758 (ABCA3) N D 568 rs121909184 Disease: Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
59123 Q99758 (ABCA3) P S 766 rs45592239 Benign
59124 Q99758 (ABCA3) L P 1553 rs121909183 Disease: Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
59125 Q99758 (ABCA3) Q P 1591 rs28936691 Disease: Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
59126 Q99759 (MAP3K3) V M 281 rs36109904 Benign
59127 Q99759 (MAP3K3) A G 325 rs34042309 Benign
59128 Q99759 (MAP3K3) A G 435 rs9910858 Benign
59129 Q99766 (DMAC2L) P L 18 rs2275592 Benign
59130 Q99767 (APBA2) L P 311 rs8040932 Benign
59131 Q99795 (GPA33) D N 20 rs2274531 Benign
59132 Q99795 (GPA33) K N 165 rs2228399 Benign
59133 Q99797 (MIPEP) L Q 71 rs1057518740 Disease: Combined oxidative phosphorylat ion deficiency 31 (COXPD31) [MIM:617228]
59134 Q99797 (MIPEP) A V 137 rs2312296 Benign
59135 Q99797 (MIPEP) L F 306 rs143912947 Disease: Combined oxidative phosphorylat ion deficiency 31 (COXPD31) [MIM:617228]
59136 Q99797 (MIPEP) R Q 340 rs11551114 Benign
59137 Q99797 (MIPEP) K E 343 rs1057518741 Disease: Combined oxidative phosphorylat ion deficiency 31 (COXPD31) [MIM:617228]
59138 Q99797 (MIPEP) R H 453 rs12858248 Benign
59139 Q99797 (MIPEP) S G 488 rs7333040 Benign
59140 Q99798 (ACO2) L V 74 rs141772938 Disease: Optic atrophy 9 (OPA9) [MIM:616289]
59141 Q99798 (ACO2) S R 112 rs786200924 Disease: Infantile cerebellar- retinal degeneration (ICRD) [MIM:614559]
59142 Q99798 (ACO2) G D 259 rs786204828 Disease: Infantile cerebellar- retinal degeneration (ICRD) [MIM:614559]
59143 Q99798 (ACO2) G R 661 rs752034900 Disease: Optic atrophy 9 (OPA9) [MIM:616289]
59144 Q99798 (ACO2) K N 736 rs786204829 Disease: Infantile cerebellar- retinal degeneration (ICRD) [MIM:614559]
59145 Q99798 (ACO2) A S 768 rs1804785 Benign
59146 Q99801 (NKX3-1) R C 52 rs2228013 Benign
59147 Q99807 (COQ7) T M 103 rs11074359 Benign
59148 Q99807 (COQ7) V E 141 rs864321686 Disease: Coenzyme Q10 deficiency, primary, 8 (COQ10D8) [MIM:616733]
59149 Q99808 (SLC29A1) I T 216 rs45573936 Benign
59150 Q99808 (SLC29A1) E K 391 rs45458701 Benign
59151 Q99814 (EPAS1) P L 534 - Disease: Erythrocytos is, familial, 4 (ECYT4) [MIM:611783]
59152 Q99814 (EPAS1) M T 535 - Disease: Erythrocytos is, familial, 4 (ECYT4) [MIM:611783]
59153 Q99814 (EPAS1) M V 535 rs137853037 Disease: Erythrocytos is, familial, 4 (ECYT4) [MIM:611783]
59154 Q99814 (EPAS1) G R 537 rs137853036 Disease: Erythrocytos is, familial, 4 (ECYT4) [MIM:611783]
59155 Q99814 (EPAS1) G W 537 rs137853036 Disease: Erythrocytos is, familial, 4 (ECYT4) [MIM:611783]
59156 Q99814 (EPAS1) F L 540 - Disease: Erythrocytos is, familial, 4 (ECYT4) [MIM:611783]
59157 Q99814 (EPAS1) T P 766 rs59901247 Benign
59158 Q99814 (EPAS1) P T 785 rs61518065 Benign
59159 Q99816 (TSG101) M I 167 rs34385327 Benign
59160 Q99828 (CIB1) S T 44 rs3210935 Benign
59161 Q99828 (CIB1) I T 106 rs11551250 Benign
59162 Q99829 (CPNE1) Q R 211 rs6579255 Benign
59163 Q99829 (CPNE1) P R 347 rs12481228 Benign
59164 Q99829 (CPNE1) P L 535 rs11543239 Benign
59165 Q99832 (CCT7) T A 259 rs2231427 Benign
59166 Q99835 (SMO) L F 412 rs879255280 Disease: Curry-Jones syndrome (CRJS) [MIM:601707]
59167 Q99835 (SMO) D H 473 rs17710891 Benign
59168 Q99836 (MYD88) S Y 34 rs1319438 Benign
59169 Q99836 (MYD88) L P 93 rs137853065 Disease: MYD88 deficiency (MYD88D) [MIM:612260]
59170 Q99836 (MYD88) R C 196 rs137853064 Disease: MYD88 deficiency (MYD88D) [MIM:612260]
59171 Q99848 (EBNA1BP2) R H 223 rs7163 Benign
59172 Q99856 (ARID3A) P H 36 rs17857499 Benign
59173 Q99856 (ARID3A) K E 320 rs17857501 Benign
59174 Q99856 (ARID3A) G S 556 rs1051505 Benign
59175 Q99873 (PRMT1) K M 88 rs1804486 Benign
59176 Q99873 (PRMT1) L F 168 rs11673683 Benign
59177 Q99880 (H2BC13) L P 4 rs200484 Benign
59178 Q99884 (SLC6A7) L V 345 rs1468564 Benign
59179 Q99895 (CTRC) G V 32 - Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
59180 Q99895 (CTRC) D H 35 rs184977421 Benign
59181 Q99895 (CTRC) D N 35 rs184977421 Benign
59182 Q99895 (CTRC) R Q 37 rs145868278 Benign
59183 Q99895 (CTRC) Q R 48 rs536812916 Benign
59184 Q99895 (CTRC) A T 73 rs515726209 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
59185 Q99895 (CTRC) R W 80 rs779643710 Benign
59186 Q99895 (CTRC) C Y 155 - Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
59187 Q99895 (CTRC) K E 172 rs34949635 Benign
59188 Q99895 (CTRC) Q R 178 rs200678111 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
59189 Q99895 (CTRC) I M 209 - Benign
59190 Q99895 (CTRC) G R 217 rs202058123 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
59191 Q99895 (CTRC) G S 217 rs202058123 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
59192 Q99895 (CTRC) G S 218 - Benign
59193 Q99895 (CTRC) E A 225 rs201486613 Benign
59194 Q99895 (CTRC) G S 227 rs567745213 Benign
59195 Q99895 (CTRC) V I 235 rs140993290 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
59196 Q99895 (CTRC) R C 246 rs200412314 Benign
59197 Q99895 (CTRC) P L 249 rs142560329 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
59198 Q99895 (CTRC) V E 250 - Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
59199 Q99895 (CTRC) R W 254 rs121909293 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
59200 Q99895 (CTRC) D N 260 rs540753875 Benign
59201 Q99932 (SPAG8) A T 69 rs13299596 Benign
59202 Q99932 (SPAG8) P L 226 rs17851728 Benign
59203 Q99943 (AGPAT1) P S 30 rs11964847 Benign
59204 Q99944 (EGFL8) R K 86 rs3096697 Benign
59205 Q99944 (EGFL8) A E 204 rs2071289 Benign
59206 Q99944 (EGFL8) G C 277 rs35587174 Benign
59207 Q99952 (PTPN18) M V 193 rs3739124 Benign
59208 Q99954 (SMR3A) G R 28 rs10031844 Benign
59209 Q99954 (SMR3A) C R 42 rs10024123 Benign
59210 Q99954 (SMR3A) P L 132 rs6853742 Benign
59211 Q99958 (FOXC2) S L 125 rs121909106 Disease: Lymphedema- distichiasis syndrome (LPHDST) [MIM:153400]
59212 Q99958 (FOXC2) S F 191 rs78018668 Benign
59213 Q99959 (PKP2) D N 26 rs143004808 Benign
59214 Q99959 (PKP2) E D 58 rs146708884 Benign
59215 Q99959 (PKP2) S I 70 rs75909145 Benign
59216 Q99959 (PKP2) N S 76 rs1201224837 Benign
59217 Q99959 (PKP2) K N 112 - Benign
59218 Q99959 (PKP2) E K 137 rs781739949 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
59219 Q99959 (PKP2) S F 140 rs150821281 Benign
59220 Q99959 (PKP2) S G 169 rs139139859 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
59221 Q99959 (PKP2) A V 195 rs1041783952 Benign
59222 Q99959 (PKP2) P S 276 rs201944276 Benign
59223 Q99959 (PKP2) T A 338 rs139851304 Benign
59224 Q99959 (PKP2) L P 366 rs1046116 Benign
59225 Q99959 (PKP2) A P 372 rs200586695 Benign
59226 Q99959 (PKP2) F S 424 rs397516990 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
59227 Q99959 (PKP2) R W 490 rs149930872 Benign
59228 Q99959 (PKP2) T M 526 rs146882581 Benign
59229 Q99959 (PKP2) I S 531 rs147240502 Benign
59230 Q99959 (PKP2) V I 587 rs146102241 Benign
59231 Q99959 (PKP2) S F 615 rs1060501186 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
59232 Q99959 (PKP2) Y C 631 rs1060501183 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
59233 Q99959 (PKP2) K Q 654 rs1319690519 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
59234 Q99959 (PKP2) L F 787 rs1462688980 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
59235 Q99959 (PKP2) C R 796 rs794729098 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 9 (ARVD9) [MIM:609040]
59236 Q99965 (ADAM2) G W 10 rs34800519 Benign
59237 Q99966 (CITED1) H Q 96 rs3012627 Benign
59238 Q99972 (MYOC) F S 4 - Benign
59239 Q99972 (MYOC) C S 9 - Benign
59240 Q99972 (MYOC) G R 12 rs199752860 Benign
59241 Q99972 (MYOC) P L 16 rs745439002 Benign
59242 Q99972 (MYOC) A S 17 - Benign
59243 Q99972 (MYOC) Q H 19 rs2234925 Benign
59244 Q99972 (MYOC) C R 25 rs755246983 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59245 Q99972 (MYOC) Q H 48 rs74315339 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
59246 Q99972 (MYOC) V A 53 rs200208925 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59247 Q99972 (MYOC) N D 57 - Benign
59248 Q99972 (MYOC) N S 57 rs561439247 Benign
59249 Q99972 (MYOC) N S 73 - Benign
59250 Q99972 (MYOC) R K 76 rs2234926 Benign
59251 Q99972 (MYOC) D E 77 - Benign
59252 Q99972 (MYOC) R H 82 rs201552559 Benign
59253 Q99972 (MYOC) R C 82 rs764005392 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59254 Q99972 (MYOC) L P 95 - Benign
59255 Q99972 (MYOC) R W 126 rs200120115 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59256 Q99972 (MYOC) R Q 158 rs199746824 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59257 Q99972 (MYOC) R Q 189 rs144579767 Benign
59258 Q99972 (MYOC) S F 203 - Benign
59259 Q99972 (MYOC) L P 215 rs531050114 Benign
59260 Q99972 (MYOC) C Y 245 rs74315340 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59261 Q99972 (MYOC) G R 246 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59262 Q99972 (MYOC) V A 251 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59263 Q99972 (MYOC) G R 252 rs74315341 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59264 Q99972 (MYOC) E K 261 rs982896610 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59265 Q99972 (MYOC) P R 274 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59266 Q99972 (MYOC) W R 286 rs1351328951 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59267 Q99972 (MYOC) T K 293 rs139122673 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59268 Q99972 (MYOC) E K 323 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59269 Q99972 (MYOC) V M 329 rs146391864 Benign
59270 Q99972 (MYOC) Q E 337 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59271 Q99972 (MYOC) Q R 337 rs74315335 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59272 Q99972 (MYOC) S P 341 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59273 Q99972 (MYOC) R K 342 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59274 Q99972 (MYOC) I M 345 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59275 Q99972 (MYOC) I N 360 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59276 Q99972 (MYOC) P S 361 rs1344039930 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59277 Q99972 (MYOC) A T 363 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59278 Q99972 (MYOC) G V 364 rs121909193 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59279 Q99972 (MYOC) G R 367 rs74315334 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59280 Q99972 (MYOC) F L 369 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59281 Q99972 (MYOC) P L 370 rs74315330 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59282 Q99972 (MYOC) T K 377 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59283 Q99972 (MYOC) T M 377 rs566289099 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59284 Q99972 (MYOC) D A 380 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59285 Q99972 (MYOC) D G 380 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59286 Q99972 (MYOC) D H 380 rs121909194 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59287 Q99972 (MYOC) D N 380 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59288 Q99972 (MYOC) S N 393 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59289 Q99972 (MYOC) S R 393 rs998968146 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59290 Q99972 (MYOC) K R 398 rs56314834 Benign
59291 Q99972 (MYOC) G V 399 rs28936694 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59292 Q99972 (MYOC) V I 402 - Benign
59293 Q99972 (MYOC) E K 414 rs1351097164 Benign
59294 Q99972 (MYOC) R C 422 rs751113505 Benign
59295 Q99972 (MYOC) R H 422 rs201573718 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59296 Q99972 (MYOC) K E 423 rs74315336 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59297 Q99972 (MYOC) V F 426 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59298 Q99972 (MYOC) A T 427 rs754237376 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59299 Q99972 (MYOC) C R 433 rs74315338 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59300 Q99972 (MYOC) G S 434 rs1200513428 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59301 Q99972 (MYOC) Y H 437 rs74315328 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59302 Q99972 (MYOC) T I 438 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59303 Q99972 (MYOC) A V 445 rs140967767 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59304 Q99972 (MYOC) T P 448 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59305 Q99972 (MYOC) N D 450 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59306 Q99972 (MYOC) I M 465 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59307 Q99972 (MYOC) R H 470 rs750791099 Benign
59308 Q99972 (MYOC) R C 470 rs771122834 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59309 Q99972 (MYOC) I N 477 rs74315331 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59310 Q99972 (MYOC) I S 477 rs74315331 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59311 Q99972 (MYOC) N K 480 rs74315332 Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59312 Q99972 (MYOC) P L 481 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59313 Q99972 (MYOC) P T 481 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59314 Q99972 (MYOC) V I 495 - Benign
59315 Q99972 (MYOC) I F 499 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59316 Q99972 (MYOC) I S 499 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59317 Q99972 (MYOC) K R 500 rs145977437 Benign
59318 Q99972 (MYOC) S P 502 - Disease: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]
59319 Q99973 (TEP1) S P 116 rs1760897 Benign
59320 Q99973 (TEP1) T M 137 rs10083536 Benign
59321 Q99973 (TEP1) N K 307 rs1760898 Benign
59322 Q99973 (TEP1) K R 368 rs2228035 Benign
59323 Q99973 (TEP1) K N 434 rs17111188 Benign
59324 Q99973 (TEP1) S L 510 rs4982051 Benign
59325 Q99973 (TEP1) A G 553 rs76466486 Benign
59326 Q99973 (TEP1) R H 933 rs34179031 Benign
59327 Q99973 (TEP1) R C 1055 rs1760903 Benign
59328 Q99973 (TEP1) R Q 1155 rs2228041 Benign
59329 Q99973 (TEP1) S P 1195 rs1760904 Benign
59330 Q99973 (TEP1) R Q 1351 rs12886088 Benign
59331 Q99973 (TEP1) G R 1408 rs2229100 Benign
59332 Q99973 (TEP1) S T 1447 rs1713457 Benign
59333 Q99973 (TEP1) C Y 1468 rs1713456 Benign
59334 Q99973 (TEP1) R Q 1661 rs34401320 Benign
59335 Q99973 (TEP1) R Q 1772 rs8022805 Benign
59336 Q99973 (TEP1) V I 2214 rs1713449 Benign
59337 Q99973 (TEP1) A S 2310 rs35929175 Benign
59338 Q99973 (TEP1) I M 2486 rs938886 Benign
59339 Q99973 (TEP1) H R 2562 rs2104978 Benign
59340 Q99983 (OMD) D G 200 rs34069871 Benign
59341 Q99983 (OMD) E G 212 rs34413259 Benign
59342 Q99983 (OMD) S N 221 rs34860658 Benign
59343 Q99983 (OMD) I T 282 rs35779901 Benign
59344 Q99983 (OMD) C W 353 rs34059114 Benign
59345 Q99985 (SEMA3C) F S 302 rs35070362 Benign
59346 Q99985 (SEMA3C) V M 337 rs1527482 Benign
59347 Q99988 (GDF15) V L 9 rs1059519 Benign
59348 Q99988 (GDF15) S T 48 rs1059369 Benign
59349 Q99988 (GDF15) H D 202 rs1058587 Benign
59350 Q99990 (VGLL1) T I 59 rs3027860 Benign
59351 Q99996 (AKAP9) M I 463 rs6964587 Benign
59352 Q99996 (AKAP9) S L 1570 rs121908566 Disease: Long QT syndrome 11 (LQT11) [MIM:611820]
59353 Q99996 (AKAP9) K R 2484 rs35759833 Benign
59354 Q99996 (AKAP9) N S 2792 rs6960867 Benign
59355 Q99996 (AKAP9) P S 2979 rs1063242 Benign
59356 Q99996 (AKAP9) Q R 3444 rs34956633 Benign
59357 Q99996 (AKAP9) M V 3614 rs34327395 Benign
59358 Q99999 (GAL3ST1) V M 29 rs2267161 Benign
59359 Q9BPU9 (B9D2) I M 11 rs2241714 Benign
59360 Q9BPU9 (B9D2) S R 101 rs1487082103 Disease: Meckel syndrome 10 (MKS10) [MIM:614175]
59361 Q9BPV8 (P2RY13) T M 179 rs1466684 Benign
59362 Q9BPW4 (APOL4) I V 9 rs132736 Benign
59363 Q9BPW4 (APOL4) V L 12 rs80587 Benign
59364 Q9BPW4 (APOL4) M V 159 rs132700 Benign
59365 Q9BPW4 (APOL4) R H 223 rs2227168 Benign
59366 Q9BPW4 (APOL4) A E 319 rs6000173 Benign
59367 Q9BPW4 (APOL4) S L 326 rs6000172 Benign
59368 Q9BPW8 (NIPSNAP1) E K 245 rs1058646 Benign
59369 Q9BPW9 (DHRS9) D H 286 rs11695788 Benign
59370 Q9BPX1 (HSD17B14) N D 31 rs8110220 Benign
59371 Q9BPX1 (HSD17B14) R W 130 rs35299026 Benign
59372 Q9BPX3 (NCAPG) A P 64 rs35722563 Benign
59373 Q9BPX3 (NCAPG) M I 581 rs3795243 Benign
59374 Q9BPX7 (C7orf25) G E 265 rs3735471 Benign
59375 Q9BQ04 (RBM4B) E V 93 - Benign
59376 Q9BQ08 (RETNLB) P L 20 rs11708527 Benign
59377 Q9BQ16 (SPOCK3) I V 112 rs9685645 Benign
59378 Q9BQ31 (KCNS3) V L 225 rs17856097 Benign
59379 Q9BQ31 (KCNS3) T A 450 rs4832524 Benign
59380 Q9BQ50 (TREX2) R C 137 rs35132777 Benign
59381 Q9BQ51 (PDCD1LG2) S T 58 rs12339171 Benign
59382 Q9BQ51 (PDCD1LG2) F S 229 rs7854303 Benign
59383 Q9BQ51 (PDCD1LG2) I T 241 rs7854413 Benign
59384 Q9BQ52 (ELAC2) S F 52 rs9895963 Benign
59385 Q9BQ52 (ELAC2) F L 154 rs397515465 Disease: Combined oxidative phosphorylat ion deficiency 17 (COXPD17) [MIM:615440]
59386 Q9BQ52 (ELAC2) R Q 211 rs148419785 Disease: Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]
59387 Q9BQ52 (ELAC2) S L 217 rs4792311 Disease: Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]
59388 Q9BQ52 (ELAC2) L F 423 rs397515466 Disease: Combined oxidative phosphorylat ion deficiency 17 (COXPD17) [MIM:615440]
59389 Q9BQ52 (ELAC2) D N 436 rs3760317 Benign
59390 Q9BQ52 (ELAC2) G R 487 rs752234492 Disease: Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]
59391 Q9BQ52 (ELAC2) T I 520 rs397515463 Disease: Combined oxidative phosphorylat ion deficiency 17 (COXPD17) [MIM:615440]
59392 Q9BQ52 (ELAC2) A T 541 rs5030739 Disease: Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]
59393 Q9BQ52 (ELAC2) E V 622 rs119484087 Disease: Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]
59394 Q9BQ52 (ELAC2) S L 627 rs78105154 Benign
59395 Q9BQ52 (ELAC2) R H 781 rs119484086 Disease: Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]
59396 Q9BQ52 (ELAC2) G R 806 rs770669443 Disease: Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]
59397 Q9BQ65 (USB1) R K 115 rs35025252 Benign
59398 Q9BQ65 (USB1) Q E 250 rs16959641 Benign
59399 Q9BQ67 (GRWD1) R Q 319 rs2302951 Benign
59400 Q9BQ75 (CMSS1) E G 138 rs11537817 Benign
59401 Q9BQ75 (CMSS1) V I 166 rs11537816 Benign
59402 Q9BQ89 (FAM110A) L I 284 rs6055290 Benign
59403 Q9BQ95 (ECSIT) R C 278 rs34803265 Benign
59404 Q9BQ95 (ECSIT) G R 406 rs2302971 Benign
59405 Q9BQA1 (WDR77) S I 48 rs7416672 Benign
59406 Q9BQA5 (HINFP) P S 4 rs17850972 Benign
59407 Q9BQA5 (HINFP) S C 78 rs17850974 Benign
59408 Q9BQA5 (HINFP) K R 352 rs34118252 Benign
59409 Q9BQA5 (HINFP) A V 493 rs100803 Benign
59410 Q9BQB4 (SOST) V L 21 - Disease: Craniodiaphy seal dysplasia autosomal dominant (CDD) [MIM:122860]
59411 Q9BQB4 (SOST) V M 21 rs387907169 Disease: Craniodiaphy seal dysplasia autosomal dominant (CDD) [MIM:122860]
59412 Q9BQB4 (SOST) C R 167 - Disease: Sclerosteosi s 1 (SOST1) [MIM:269500]
59413 Q9BQB6 (VKORC1) A T 26 rs770703948 Disease: Coumarin resistance (CMRES) [MIM:122700]
59414 Q9BQB6 (VKORC1) V L 29 rs104894539 Disease: Coumarin resistance (CMRES) [MIM:122700]
59415 Q9BQB6 (VKORC1) D G 36 - Disease: Coumarin resistance (CMRES) [MIM:122700]
59416 Q9BQB6 (VKORC1) D Y 36 rs61742245 Disease: Coumarin resistance (CMRES) [MIM:122700]
59417 Q9BQB6 (VKORC1) V A 45 rs104894540 Disease: Coumarin resistance (CMRES) [MIM:122700]
59418 Q9BQB6 (VKORC1) S W 52 - Disease: Coumarin resistance (CMRES) [MIM:122700]
59419 Q9BQB6 (VKORC1) S F 56 - Disease: Coumarin resistance (CMRES) [MIM:122700]
59420 Q9BQB6 (VKORC1) R G 58 rs104894541 Disease: Coumarin resistance (CMRES) [MIM:122700]
59421 Q9BQB6 (VKORC1) W C 59 - Disease: Coumarin resistance (CMRES) [MIM:122700]
59422 Q9BQB6 (VKORC1) W L 59 - Disease: Coumarin resistance (CMRES) [MIM:122700]
59423 Q9BQB6 (VKORC1) V G 66 - Disease: Coumarin resistance (CMRES) [MIM:122700]
59424 Q9BQB6 (VKORC1) V M 66 rs72547529 Disease: Coumarin resistance (CMRES) [MIM:122700]
59425 Q9BQB6 (VKORC1) G A 71 - Disease: Coumarin resistance (CMRES) [MIM:122700]
59426 Q9BQB6 (VKORC1) N S 77 - Disease: Coumarin resistance (CMRES) [MIM:122700]
59427 Q9BQB6 (VKORC1) N Y 77 rs755767348 Disease: Coumarin resistance (CMRES) [MIM:122700]
59428 Q9BQB6 (VKORC1) R W 98 rs72547528 Disease: Combined deficiency of vitamin K-dependent clotting factors 2 (VKCFD2) [MIM:607473]
59429 Q9BQB6 (VKORC1) I N 123 - Disease: Coumarin resistance (CMRES) [MIM:122700]
59430 Q9BQB6 (VKORC1) L R 128 rs104894542 Disease: Coumarin resistance (CMRES) [MIM:122700]
59431 Q9BQB6 (VKORC1) Y H 139 - Disease: Coumarin resistance (CMRES) [MIM:122700]
59432 Q9BQD3 (KXD1) P A 157 rs7648 Benign
59433 Q9BQE5 (APOL2) R C 182 rs7285167 Benign
59434 Q9BQE5 (APOL2) I V 245 rs132760 Benign
59435 Q9BQF6 (SENP7) K Q 79 rs6809436 Benign
59436 Q9BQF6 (SENP7) Q H 612 rs2433031 Benign
59437 Q9BQG0 (MYBBP1A) Q E 8 rs3809849 Benign
59438 Q9BQG0 (MYBBP1A) H Y 680 rs899440 Benign
59439 Q9BQG0 (MYBBP1A) H P 958 rs879797 Benign
59440 Q9BQG0 (MYBBP1A) M L 1208 rs9905742 Benign
59441 Q9BQG2 (NUDT12) K E 129 rs35903418 Benign
59442 Q9BQG2 (NUDT12) I V 235 rs34468716 Benign
59443 Q9BQI3 (EIF2AK1) R T 117 rs34889754 Benign
59444 Q9BQI3 (EIF2AK1) K T 132 rs34851195 Benign
59445 Q9BQI3 (EIF2AK1) R K 134 rs55744865 Benign
59446 Q9BQI3 (EIF2AK1) P S 139 rs55963745 Benign
59447 Q9BQI3 (EIF2AK1) R H 145 rs55971369 Benign
59448 Q9BQI3 (EIF2AK1) F L 292 rs55982710 Benign
59449 Q9BQI3 (EIF2AK1) L H 319 rs34909691 Benign
59450 Q9BQI3 (EIF2AK1) K R 558 rs2640 Benign
59451 Q9BQI5 (SGIP1) E Q 112 rs17490057 Benign
59452 Q9BQI5 (SGIP1) K R 131 rs7526812 Benign
59453 Q9BQI5 (SGIP1) P Q 161 rs17855645 Benign
59454 Q9BQI5 (SGIP1) K E 575 rs17854026 Benign
59455 Q9BQI6 (SLF1) S R 288 rs6891545 Benign
59456 Q9BQI7 (PSD2) R Q 31 rs34880693 Benign
59457 Q9BQI7 (PSD2) R M 51 rs3797902 Benign
59458 Q9BQI7 (PSD2) G R 363 rs35714177 Benign
59459 Q9BQK8 (LPIN3) Q H 679 rs12625565 Benign
59460 Q9BQL6 (FERMT1) I T 160 rs16991866 Benign
59461 Q9BQL6 (FERMT1) V A 241 rs55666319 Benign
59462 Q9BQL6 (FERMT1) S P 400 rs869312718 Disease: Kindler syndrome (KNDLRS) [MIM:173650]
59463 Q9BQL6 (FERMT1) R K 526 rs2232074 Benign
59464 Q9BQL6 (FERMT1) A T 534 rs2232078 Benign
59465 Q9BQL6 (FERMT1) W R 559 rs869312719 Disease: Kindler syndrome (KNDLRS) [MIM:173650]
59466 Q9BQM9 (C20orf144) Q R 62 rs7260921 Benign
59467 Q9BQN1 (FAM83C) E K 134 rs35162625 Benign
59468 Q9BQN1 (FAM83C) Y H 600 rs35560631 Benign
59469 Q9BQN1 (FAM83C) R Q 621 rs2425049 Benign
59470 Q9BQN1 (FAM83C) R C 645 rs35518957 Benign
59471 Q9BQP7 (MGME1) S C 15 rs11551768 Benign
59472 Q9BQP7 (MGME1) Y C 233 rs587776944 Disease: Mitochondria l DNA depletion syndrome 11 (MTDPS11) [MIM:615084]
59473 Q9BQP9 (BPIFA3) A E 41 rs17124391 Benign
59474 Q9BQP9 (BPIFA3) V I 136 rs3818222 Benign
59475 Q9BQQ3 (GORASP1) T M 425 rs1109643 Benign
59476 Q9BQS6 (HSPB9) Q P 2 rs1122326 Benign
59477 Q9BQS7 (HEPH) A T 595 rs17216603 Benign
59478 Q9BQS8 (FYCO1) R Q 250 rs4683158 Benign
59479 Q9BQS8 (FYCO1) R H 282 rs9875356 Benign
59480 Q9BQS8 (FYCO1) G A 321 rs3733100 Benign
59481 Q9BQS8 (FYCO1) T M 381 rs3733101 Benign
59482 Q9BQS8 (FYCO1) R C 447 rs33910087 Benign
59483 Q9BQS8 (FYCO1) A V 679 rs3796375 Benign
59484 Q9BQS8 (FYCO1) E K 994 rs34801630 Benign
59485 Q9BQS8 (FYCO1) N D 1001 rs13059238 Benign
59486 Q9BQS8 (FYCO1) L P 1376 rs387906965 Disease: Cataract 18 (CTRCT18) [MIM:610019]
59487 Q9BQT8 (SLC25A21) W C 299 rs17104991 Benign
59488 Q9BQT9 (CLSTN3) S G 209 rs7302230 Benign
59489 Q9BR09 (NEURL2) E K 211 rs35342327 Benign
59490 Q9BR10 (SPATA25) P L 94 rs3827040 Benign
59491 Q9BR11 (ZSWIM1) R Q 101 rs3746500 Benign
59492 Q9BR26 (OCSTAMP) P S 565 rs847079 Benign
59493 Q9BR39 (JPH2) E K 85 - Disease: -
59494 Q9BR39 (JPH2) S R 101 - Disease: Cardiomyopat hy, familial hypertrophic 17 (CMH17) [MIM:613873]
59495 Q9BR39 (JPH2) Y H 141 rs387906897 Disease: Cardiomyopat hy, familial hypertrophic 17 (CMH17) [MIM:613873]
59496 Q9BR39 (JPH2) T K 161 rs587782951 Disease: Cardiomyopat hy, familial hypertrophic 17 (CMH17) [MIM:613873]
59497 Q9BR39 (JPH2) S F 165 rs387906898 Disease: Cardiomyopat hy, familial hypertrophic 17 (CMH17) [MIM:613873]
59498 Q9BR39 (JPH2) E K 169 - Disease: -
59499 Q9BR39 (JPH2) A T 396 rs3810510 Benign
59500 Q9BR39 (JPH2) R C 436 rs1326977511 Benign
59501 Q9BR39 (JPH2) G S 505 rs140740776 Benign
59502 Q9BR76 (CORO1B) R L 476 rs2286624 Benign
59503 Q9BR77 (CCDC77) S R 25 rs4980895 Benign
59504 Q9BR77 (CCDC77) M T 335 rs735295 Benign
59505 Q9BR84 (ZNF559) T N 251 rs16979670 Benign
59506 Q9BRB3 (PIGQ) T A 14 rs2071979 Benign
59507 Q9BRB3 (PIGQ) C R 592 rs1045277 Benign
59508 Q9BRB3 (PIGQ) C R 668 rs710924 Benign
59509 Q9BRB3 (PIGQ) C Y 668 rs710925 Benign
59510 Q9BRD0 (BUD13) R C 120 rs10488698 Benign
59511 Q9BRD0 (BUD13) P L 148 rs11820589 Benign
59512 Q9BRD0 (BUD13) R I 242 rs11216131 Benign
59513 Q9BRD0 (BUD13) S C 388 rs35004487 Benign
59514 Q9BRF8 (CPPED1) A D 19 rs3748976 Benign
59515 Q9BRF8 (CPPED1) V I 86 rs3748980 Benign
59516 Q9BRF8 (CPPED1) K R 241 rs1713480 Benign
59517 Q9BRF8 (CPPED1) H P 290 rs11645068 Benign
59518 Q9BRG1 (VPS25) I V 76 rs34494804 Benign
59519 Q9BRG2 (SH2D3A) N D 32 rs7258236 Benign
59520 Q9BRG2 (SH2D3A) D G 223 rs12608960 Benign
59521 Q9BRI3 (SLC30A2) H R 54 rs587776926 Disease: Zinc deficiency, transient neonatal (TNZD) [MIM:608118]
59522 Q9BRI3 (SLC30A2) G R 87 rs185398527 Disease: Zinc deficiency, transient neonatal (TNZD) [MIM:608118]
59523 Q9BRJ2 (MRPL45) G V 298 rs34749623 Benign
59524 Q9BRJ9 (MESP1) A P 53 rs6496598 Benign
59525 Q9BRK0 (REEP2) V E 36 rs483352923 Disease: Spastic paraplegia 72 (SPG72) [MIM:615625]
59526 Q9BRK0 (REEP2) F Y 72 rs483352925 Disease: Spastic paraplegia 72 (SPG72) [MIM:615625]
59527 Q9BRK3 (MXRA8) D N 396 rs150058708 Benign
59528 Q9BRK4 (LZTS2) R W 299 rs2275381 Benign
59529 Q9BRK5 (SDF4) N D 50 rs12745364 Benign
59530 Q9BRP4 (PAAF1) A V 53 rs17850051 Benign
59531 Q9BRP4 (PAAF1) C S 139 rs2067912 Benign
59532 Q9BRP4 (PAAF1) A G 209 rs3741138 Benign
59533 Q9BRP7 (FDXACB1) T A 28 rs59164893 Benign
59534 Q9BRP7 (FDXACB1) I N 87 rs611010 Benign
59535 Q9BRP7 (FDXACB1) T P 475 rs3168263 Benign
59536 Q9BRP8 (PYM1) E Q 66 rs3802998 Benign
59537 Q9BRQ3 (NUDT22) G C 36 rs2286612 Benign
59538 Q9BRQ3 (NUDT22) T R 129 rs34448455 Benign
59539 Q9BRQ3 (NUDT22) Q R 260 rs633561 Benign
59540 Q9BRQ3 (NUDT22) L P 263 rs633557 Benign
59541 Q9BRQ4 (CFAP300) H R 259 rs1555071691 Disease: Ciliary dyskinesia, primary, 38 (CILD38) [MIM:618063]
59542 Q9BRQ6 (CHCHD6) A S 95 rs2272487 Benign
59543 Q9BRQ8 (AIFM2) M T 135 rs10999147 Benign
59544 Q9BRQ8 (AIFM2) D N 288 rs2271694 Benign
59545 Q9BRR0 (ZKSCAN3) R T 3 rs733743 Benign
59546 Q9BRR0 (ZKSCAN3) G V 33 rs3857554 Benign
59547 Q9BRR0 (ZKSCAN3) F L 34 rs3857555 Benign
59548 Q9BRR0 (ZKSCAN3) V M 189 rs17856167 Benign
59549 Q9BRR0 (ZKSCAN3) K A 200 rs371085669 Benign
59550 Q9BRR0 (ZKSCAN3) K E 200 rs13201752 Benign
59551 Q9BRR0 (ZKSCAN3) K T 200 rs13201753 Benign
59552 Q9BRR0 (ZKSCAN3) H Q 246 rs213227 Benign
59553 Q9BRR6 (ADPGK) K R 184 rs8024644 Benign
59554 Q9BRR8 (GPATCH1) L P 476 rs2287679 Benign
59555 Q9BRR8 (GPATCH1) L S 520 rs16967805 Benign
59556 Q9BRR8 (GPATCH1) D E 631 rs35389599 Benign
59557 Q9BRR8 (GPATCH1) H R 724 rs10416265 Benign
59558 Q9BRR8 (GPATCH1) L S 728 rs10421769 Benign
59559 Q9BRR8 (GPATCH1) E K 909 rs16967824 Benign
59560 Q9BRR9 (ARHGAP9) R G 50 rs33927108 Benign
59561 Q9BRR9 (ARHGAP9) R C 137 rs3802989 Benign
59562 Q9BRR9 (ARHGAP9) S A 370 rs11544238 Benign
59563 Q9BRS2 (RIOK1) V I 375 rs56067778 Benign
59564 Q9BRT8 (CBWD1) A V 8 rs16925054 Benign
59565 Q9BRU9 (UTP23) H R 170 rs16888722 Benign
59566 Q9BRU9 (UTP23) K Q 195 rs1133950 Benign
59567 Q9BRU9 (UTP23) P L 215 rs16888728 Benign
59568 Q9BRX2 (PELO) L M 221 rs1499280 Benign
59569 Q9BRX9 (WDR83) G S 278 rs34373915 Benign
59570 Q9BRX9 (WDR83) R Q 304 rs35092999 Benign
59571 Q9BRY0 (SLC39A3) F L 100 rs11539244 Benign
59572 Q9BRY0 (SLC39A3) P L 257 rs35594294 Benign
59573 Q9BS31 (ZNF649) G D 352 rs6509593 Benign
59574 Q9BS31 (ZNF649) A T 469 rs1433083 Benign
59575 Q9BS40 (LXN) H R 53 rs8455 Benign
59576 Q9BS40 (LXN) T M 134 rs59718588 Benign
59577 Q9BS86 (ZPBP) R P 17 rs202231065 Benign
59578 Q9BS86 (ZPBP) R P 25 rs61696422 Benign
59579 Q9BS91 (SLC35A5) N I 247 rs17849939 Benign
59580 Q9BS92 (NIPSNAP3B) A P 94 rs10761084 Benign
59581 Q9BS92 (NIPSNAP3B) K E 154 rs3739740 Benign
59582 Q9BS92 (NIPSNAP3B) A G 159 rs3739741 Benign
59583 Q9BSA4 (TTYH2) P H 11 rs11538875 Benign
59584 Q9BSA4 (TTYH2) H D 85 rs11538876 Benign
59585 Q9BSA4 (TTYH2) A T 262 rs35682745 Benign
59586 Q9BSA4 (TTYH2) S A 265 rs35999669 Benign
59587 Q9BSA4 (TTYH2) A E 409 rs9892705 Benign
59588 Q9BSA4 (TTYH2) T I 419 rs12600564 Benign
59589 Q9BSA4 (TTYH2) D E 423 rs9899862 Benign
59590 Q9BSA9 (TMEM175) Q P 65 rs34884217 Benign
59591 Q9BSA9 (TMEM175) M T 393 rs34311866 Benign
59592 Q9BSC4 (NOL10) D N 635 rs2287059 Benign
59593 Q9BSD7 (NTPCR) G E 106 rs12123482 Benign
59594 Q9BSE2 (TMEM79) V M 147 rs6684514 Benign
59595 Q9BSE4 (HERPUD2) A T 108 rs3779234 Benign
59596 Q9BSE4 (HERPUD2) H L 200 rs2305335 Benign
59597 Q9BSE5 (AGMAT) G R 105 rs6429757 Benign
59598 Q9BSE5 (AGMAT) R Q 140 rs11580170 Benign
59599 Q9BSF0 (C2orf88) T I 56 rs6753459 Benign
59600 Q9BSF8 (BTBD10) T A 145 rs34185489 Benign
59601 Q9BSG5 (RTBDN) G A 198 rs13628 Benign
59602 Q9BSH4 (TACO1) G S 145 rs35252424 Benign
59603 Q9BSH5 (HDHD3) G E 146 rs1043836 Benign
59604 Q9BSI4 (TINF2) A T 43 rs35653076 Benign
59605 Q9BSI4 (TINF2) G D 237 rs17102313 Benign
59606 Q9BSI4 (TINF2) P S 241 rs17102311 Benign
59607 Q9BSI4 (TINF2) K E 280 rs121918543 Disease: Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) [MIM:613990]
59608 Q9BSI4 (TINF2) R H 282 rs121918544 Disease: Dyskeratosis congenita, autosomal dominant, 5 (DKCA5) [MIM:268130]
59609 Q9BSI4 (TINF2) R S 282 rs121918545 Disease: Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) [MIM:613990]
59610 Q9BSJ2 (TUBGCP2) A T 111 rs2298121 Benign
59611 Q9BSJ2 (TUBGCP2) I T 193 rs11101682 Benign
59612 Q9BSJ2 (TUBGCP2) A T 809 rs11101677 Benign
59613 Q9BSJ5 (C17orf80) G S 226 rs9902726 Benign
59614 Q9BSJ5 (C17orf80) K Q 322 rs34784472 Benign
59615 Q9BSJ5 (C17orf80) F L 356 rs745143 Benign
59616 Q9BSJ5 (C17orf80) H N 395 rs904384 Benign
59617 Q9BSJ5 (C17orf80) C R 396 rs904383 Benign
59618 Q9BSJ5 (C17orf80) Q H 420 rs745142 Benign
59619 Q9BSJ5 (C17orf80) A T 522 rs1566286 Benign
59620 Q9BSJ6 (PIMREG) S C 199 rs16955870 Benign
59621 Q9BSJ8 (ESYT1) R C 764 rs35075600 Benign
59622 Q9BSK1 (ZNF577) A V 84 rs17856123 Benign
59623 Q9BSK1 (ZNF577) R C 123 rs17849895 Benign
59624 Q9BSK1 (ZNF577) R K 234 rs9807847 Benign
59625 Q9BSK1 (ZNF577) K E 246 rs2288868 Benign
59626 Q9BSK1 (ZNF577) R C 346 rs9807842 Benign
59627 Q9BSK1 (ZNF577) R S 357 rs9807853 Benign
59628 Q9BSK1 (ZNF577) E K 373 rs10407547 Benign
59629 Q9BSK1 (ZNF577) T I 375 rs10407911 Benign
59630 Q9BSK2 (SLC25A33) L I 242 rs35819756 Benign
59631 Q9BSL1 (UBAC1) E D 374 rs11103231 Benign
59632 Q9BSN7 (TMEM204) G A 57 rs1057612 Benign
59633 Q9BSQ5 (CCM2) V I 53 rs2107732 Benign
59634 Q9BSQ5 (CCM2) V I 120 rs11552377 Benign
59635 Q9BSQ5 (CCM2) L R 198 rs137852843 Disease: Cerebral cavernous malformation s 2 (CCM2) [MIM:603284]
59636 Q9BSQ5 (CCM2) Q H 215 - Disease: Cerebral cavernous malformation s 2 (CCM2) [MIM:603284]
59637 Q9BSQ5 (CCM2) L Q 229 - Disease: Cerebral cavernous malformation s 2 (CCM2) [MIM:603284]
59638 Q9BSQ5 (CCM2) S N 289 rs2289366 Benign
59639 Q9BSU3 (NAA11) A T 6 rs3811765 Benign
59640 Q9BSU3 (NAA11) L F 19 rs17003712 Benign
59641 Q9BSV6 (TSEN34) R W 58 rs113994150 Disease: Pontocerebel lar hypoplasia 2C (PCH2C) [MIM:612390]
59642 Q9BSV6 (TSEN34) L V 112 rs17849378 Benign
59643 Q9BSW2 (CRACR2A) R G 7 rs9788233 Benign
59644 Q9BSW2 (CRACR2A) A T 98 rs17836273 Benign
59645 Q9BSW2 (CRACR2A) A V 128 rs242017 Benign
59646 Q9BSW2 (CRACR2A) H P 136 rs34088152 Benign
59647 Q9BSW2 (CRACR2A) E K 154 rs242018 Benign
59648 Q9BSW2 (CRACR2A) H Q 212 rs36030417 Benign
59649 Q9BT04 (FUZ) A S 34 rs35138412 Benign
59650 Q9BT04 (FUZ) G D 175 rs35002951 Benign
59651 Q9BT04 (FUZ) T I 400 rs12610577 Benign
59652 Q9BT09 (CNPY3) M I 145 rs1063252 Benign
59653 Q9BT09 (CNPY3) S I 231 rs9471969 Benign
59654 Q9BT17 (MTG1) I V 293 rs2255246 Benign
59655 Q9BT22 (ALG1) Q R 50 rs794726944 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59656 Q9BT22 (ALG1) S F 71 rs200605408 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59657 Q9BT22 (ALG1) H L 74 rs201337379 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59658 Q9BT22 (ALG1) L V 88 rs794727301 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59659 Q9BT22 (ALG1) P L 98 - Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59660 Q9BT22 (ALG1) L F 114 - Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59661 Q9BT22 (ALG1) S R 150 rs121908340 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59662 Q9BT22 (ALG1) I S 209 - Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59663 Q9BT22 (ALG1) S L 258 rs28939378 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59664 Q9BT22 (ALG1) S N 267 rs17849848 Benign
59665 Q9BT22 (ALG1) R W 276 rs151173406 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59666 Q9BT22 (ALG1) V F 281 rs553396382 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59667 Q9BT22 (ALG1) D G 289 rs1180515976 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59668 Q9BT22 (ALG1) D V 291 rs192564717 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59669 Q9BT22 (ALG1) L M 325 rs17852920 Benign
59670 Q9BT22 (ALG1) Q P 342 rs267606651 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59671 Q9BT22 (ALG1) Y D 353 - Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59672 Q9BT22 (ALG1) G R 358 rs886042742 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59673 Q9BT22 (ALG1) S L 359 rs1299775990 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59674 Q9BT22 (ALG1) A V 360 rs398124348 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59675 Q9BT22 (ALG1) G A 363 - Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59676 Q9BT22 (ALG1) L Q 366 - Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59677 Q9BT22 (ALG1) H Q 367 - Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59678 Q9BT22 (ALG1) M K 382 - Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59679 Q9BT22 (ALG1) G R 384 rs1057520122 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59680 Q9BT22 (ALG1) P S 388 rs398124349 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59681 Q9BT22 (ALG1) D E 429 rs9745522 Benign
59682 Q9BT22 (ALG1) R W 438 rs16835020 Disease: Congenital disorder of glycosylatio n 1K (CDG1K) [MIM:608540]
59683 Q9BT22 (ALG1) Q R 455 rs17856919 Benign
59684 Q9BT25 (HAUS8) G R 83 rs1130222 Benign
59685 Q9BT30 (ALKBH7) R Q 191 rs7540 Benign
59686 Q9BT40 (INPP5K) V M 23 rs750781027 Disease: Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404]
59687 Q9BT40 (INPP5K) I T 50 rs1060505038 Disease: Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404]
59688 Q9BT40 (INPP5K) M V 93 rs1060505039 Disease: Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404]
59689 Q9BT40 (INPP5K) G S 140 rs749383757 Disease: Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404]
59690 Q9BT40 (INPP5K) D N 269 rs761612652 Disease: Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404]
59691 Q9BT40 (INPP5K) Y C 300 rs766046008 Disease: Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404]
59692 Q9BT40 (INPP5K) I T 363 rs993849342 Disease: Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404]
59693 Q9BT49 (THAP7) A P 115 rs426938 Benign
59694 Q9BT76 (UPK3B) Q R 293 rs1636632 Benign
59695 Q9BT76 (UPK3B) W R 319 rs1799126 Benign
59696 Q9BT88 (SYT11) Q H 48 rs822522 Benign
59697 Q9BT88 (SYT11) G V 231 rs17853892 Benign
59698 Q9BT92 (TCHP) K R 127 rs10774978 Benign
59699 Q9BT92 (TCHP) E K 417 rs16940680 Benign
59700 Q9BTA9 (WAC) S R 242 rs11595926 Benign
59701 Q9BTA9 (WAC) T A 309 rs2232791 Benign
59702 Q9BTA9 (WAC) T S 531 rs7127 Benign
59703 Q9BTC0 (DIDO1) P L 13 rs6090161 Benign
59704 Q9BTC0 (DIDO1) P L 276 rs6090160 Benign
59705 Q9BTC0 (DIDO1) M T 544 rs1883848 Benign
59706 Q9BTC0 (DIDO1) A T 556 rs1883847 Benign
59707 Q9BTC0 (DIDO1) A G 793 rs750077 Benign
59708 Q9BTC0 (DIDO1) P Q 1220 rs6011441 Benign
59709 Q9BTC0 (DIDO1) S C 1708 rs41282984 Benign
59710 Q9BTE0 (NAT9) C R 56 rs2305213 Benign
59711 Q9BTL4 (IER2) A V 133 rs1042164 Benign
59712 Q9BTN0 (LRFN3) A V 14 rs34933126 Benign
59713 Q9BTP7 (FAAP24) S F 126 rs36017455 Benign
59714 Q9BTP7 (FAAP24) S L 158 rs2304103 Benign
59715 Q9BTP7 (FAAP24) I T 192 rs3816032 Benign
59716 Q9BTT6 (LRRC1) I V 193 rs9349688 Benign
59717 Q9BTV4 (TMEM43) E K 85 rs397514044 Disease: Emery- Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302]
59718 Q9BTV4 (TMEM43) I V 91 rs144811578 Disease: Emery- Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302]
59719 Q9BTV4 (TMEM43) K N 168 rs4685076 Benign
59720 Q9BTV4 (TMEM43) M T 179 rs2340917 Benign
59721 Q9BTV4 (TMEM43) Y C 233 rs35924492 Benign
59722 Q9BTV4 (TMEM43) A V 318 rs11924644 Benign
59723 Q9BTV4 (TMEM43) S L 358 rs63750743 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 5 (ARVD5) [MIM:604400]
59724 Q9BTV5 (FSD1) L V 232 rs35139245 Benign
59725 Q9BTV6 (DPH7) G R 158 rs821314 Benign
59726 Q9BTV7 (CABLES2) T K 428 rs6089219 Benign
59727 Q9BTW9 (TBCD) L R 229 rs778417127 Disease: Encephalopat hy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
59728 Q9BTW9 (TBCD) T M 374 rs953299085 Disease: Encephalopat hy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
59729 Q9BTW9 (TBCD) R Q 377 rs764085684 Disease: Encephalopat hy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
59730 Q9BTW9 (TBCD) M R 387 rs886041086 Disease: Encephalopat hy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
59731 Q9BTW9 (TBCD) A T 475 rs775014444 Disease: Encephalopat hy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
59732 Q9BTW9 (TBCD) A V 586 - Disease: Encephalopat hy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
59733 Q9BTW9 (TBCD) M T 617 rs2292971 Benign
59734 Q9BTW9 (TBCD) A T 626 rs749225304 Disease: Encephalopat hy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
59735 Q9BTW9 (TBCD) R C 772 rs181969865 Disease: Encephalopat hy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
59736 Q9BTW9 (TBCD) A T 921 rs886041085 Disease: Encephalopat hy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
59737 Q9BTW9 (TBCD) S N 923 rs3214033 Benign
59738 Q9BTW9 (TBCD) P R 937 rs886041087 Disease: Encephalopat hy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
59739 Q9BTW9 (TBCD) G V 943 rs8072406 Benign
59740 Q9BTW9 (TBCD) P L 1122 rs755177846 Disease: Encephalopat hy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]
59741 Q9BTW9 (TBCD) L P 1185 rs2292969 Benign
59742 Q9BTX1 (NDC1) G D 154 rs17849721 Benign
59743 Q9BTX3 (TMEM208) D Y 82 rs17851038 Benign
59744 Q9BTX3 (TMEM208) L P 102 rs11553801 Benign
59745 Q9BTX7 (TTPAL) A G 278 rs59069332 Benign
59746 Q9BTY2 (FUCA2) A E 233 rs11155297 Benign
59747 Q9BTY2 (FUCA2) M V 356 rs3762002 Benign
59748 Q9BTY2 (FUCA2) H Y 371 rs3762001 Benign
59749 Q9BTZ2 (DHRS4) A T 31 rs1043442 Benign
59750 Q9BTZ2 (DHRS4) P S 202 rs1043650 Benign
59751 Q9BU02 (THTPA) H R 176 rs34015250 Benign
59752 Q9BU19 (ZNF692) P R 230 rs13313088 Benign
59753 Q9BU20 (CPLANE2) E G 86 rs17849687 Benign
59754 Q9BU20 (CPLANE2) I L 161 - Benign
59755 Q9BU23 (LMF2) T M 479 rs8136495 Benign
59756 Q9BU40 (CHRDL1) C F 260 rs387906713 Disease: Megalocornea 1, X-linked (MGC1) [MIM:309300]
59757 Q9BU61 (NDUFAF3) G R 77 rs121918134 Disease: Mitochondria l complex I deficiency, nuclear type 18 (MC1DN18) [MIM:618240]
59758 Q9BU61 (NDUFAF3) R P 122 rs121918135 Disease: Mitochondria l complex I deficiency, nuclear type 18 (MC1DN18) [MIM:618240]
59759 Q9BU61 (NDUFAF3) A V 165 rs138275059 Disease: Mitochondria l complex I deficiency, nuclear type 18 (MC1DN18) [MIM:618240]
59760 Q9BU64 (CENPO) Q R 34 rs1550116 Benign
59761 Q9BU70 (TRMO) S P 7 rs3183927 Benign
59762 Q9BU70 (TRMO) V A 252 rs35606344 Benign
59763 Q9BU70 (TRMO) V M 324 rs2282192 Benign
59764 Q9BUA3 (SPINDOC) E Q 58 rs35875163 Benign
59765 Q9BUA6 (MYL10) M T 46 rs12216595 Benign
59766 Q9BUB4 (ADAT1) H N 167 rs3743598 Benign
59767 Q9BUB4 (ADAT1) T N 203 rs3743599 Benign
59768 Q9BUB4 (ADAT1) I V 226 rs56029288 Benign
59769 Q9BUB4 (ADAT1) T P 242 rs3743600 Benign
59770 Q9BUB5 (MKNK1) K Q 49 rs56351860 Benign
59771 Q9BUB5 (MKNK1) L V 158 rs56408722 Benign
59772 Q9BUB5 (MKNK1) D N 308 rs55791614 Benign
59773 Q9BUB5 (MKNK1) R Q 446 rs34881418 Benign
59774 Q9BUB7 (TMEM70) A P 34 rs8075 Benign
59775 Q9BUB7 (TMEM70) T P 210 - Disease: Mitochondria l complex V deficiency, nuclear type 2 (MC5DN2) [MIM:614052]
59776 Q9BUB7 (TMEM70) N K 228 rs35564486 Benign
59777 Q9BUB7 (TMEM70) T A 250 rs1053079 Benign
59778 Q9BUB7 (TMEM70) D E 259 rs1053077 Benign
59779 Q9BUD6 (SPON2) R G 38 rs6836335 Benign
59780 Q9BUD6 (SPON2) L P 40 rs922697 Benign
59781 Q9BUD6 (SPON2) E A 122 rs11247975 Benign
59782 Q9BUD6 (SPON2) V L 242 rs2279279 Benign
59783 Q9BUF5 (TUBB6) F S 394 rs1555669248 Disease: Facial palsy, congenital, with ptosis and velopharynge al dysfunction (FPVEPD) [MIM:617732]
59784 Q9BUG6 (ZSCAN5A) G V 337 rs34187696 Benign
59785 Q9BUI4 (POLR3C) H R 243 rs1044697 Benign
59786 Q9BUJ0 (ABHD14A) R Q 32 rs17849626 Benign
59787 Q9BUJ0 (ABHD14A) C W 61 rs404527 Benign
59788 Q9BUJ2 (HNRNPUL1) G C 91 rs17849624 Benign
59789 Q9BUK6 (MSTO1) V M 8 rs762798018 Disease: Myopathy, mitochondria l, and ataxia (MMYAT) [MIM:617675]
59790 Q9BUL8 (PDCD10) D A 102 rs1129087 Benign
59791 Q9BUM1 (G6PC3) P L 44 rs762019955 Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59792 Q9BUM1 (G6PC3) P S 44 rs775224457 Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59793 Q9BUM1 (G6PC3) W R 59 rs752966267 Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59794 Q9BUM1 (G6PC3) M I 116 rs1373865222 Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59795 Q9BUM1 (G6PC3) M K 116 - Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59796 Q9BUM1 (G6PC3) M T 116 - Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59797 Q9BUM1 (G6PC3) M V 116 rs267606834 Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59798 Q9BUM1 (G6PC3) T R 118 rs766706036 Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59799 Q9BUM1 (G6PC3) S I 139 - Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59800 Q9BUM1 (G6PC3) L P 154 - Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59801 Q9BUM1 (G6PC3) R Q 161 rs1485073209 Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59802 Q9BUM1 (G6PC3) L P 185 rs118203969 Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59803 Q9BUM1 (G6PC3) R Q 189 rs140294222 Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59804 Q9BUM1 (G6PC3) L R 208 - Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59805 Q9BUM1 (G6PC3) T I 216 rs34406052 Benign
59806 Q9BUM1 (G6PC3) R C 253 rs765927570 Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59807 Q9BUM1 (G6PC3) R H 253 rs118203968 Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59808 Q9BUM1 (G6PC3) G D 260 - Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59809 Q9BUM1 (G6PC3) G R 260 rs200478425 Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59810 Q9BUM1 (G6PC3) G R 262 rs118203971 Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59811 Q9BUM1 (G6PC3) L R 325 - Disease: Neutropenia, severe congenital 4, autosomal recessive (SCN4) [MIM:612541]
59812 Q9BUN5 (CCDC28B) R W 25 rs1407134 Benign
59813 Q9BUN8 (DERL1) I V 171 rs2272722 Benign
59814 Q9BUP0 (EFHD1) K R 186 rs11550699 Benign
59815 Q9BUP3 (HTATIP2) S R 197 rs3824886 Benign
59816 Q9BUR4 (WRAP53) P S 11 rs17880282 Benign
59817 Q9BUR4 (WRAP53) R G 68 rs2287499 Benign
59818 Q9BUR4 (WRAP53) P R 136 rs34067256 Benign
59819 Q9BUR4 (WRAP53) F L 164 rs281865547 Disease: Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988]
59820 Q9BUR4 (WRAP53) N T 187 rs35762939 Benign
59821 Q9BUR4 (WRAP53) H Y 376 rs281865549 Disease: Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988]
59822 Q9BUR4 (WRAP53) R W 398 rs281865548 Disease: Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988]
59823 Q9BUR4 (WRAP53) G R 435 rs281865550 Disease: Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988]
59824 Q9BUR4 (WRAP53) E Q 494 rs35123152 Benign
59825 Q9BUR4 (WRAP53) A G 522 rs7640 Benign
59826 Q9BUT1 (BDH2) N S 70 rs1054707 Benign
59827 Q9BUU2 (METTL22) W S 59 rs2270286 Benign
59828 Q9BUU2 (METTL22) A T 219 rs2302607 Benign
59829 Q9BUU2 (METTL22) A T 366 rs1731000 Benign
59830 Q9BUU2 (METTL22) E K 375 rs55747257 Benign
59831 Q9BUV0 (RSRP1) Y H 147 rs34619962 Benign
59832 Q9BUV0 (RSRP1) E G 239 rs1043879 Benign
59833 Q9BUY5 (ZNF426) A V 4 rs2042200 Benign
59834 Q9BUY5 (ZNF426) T A 219 rs10420644 Benign
59835 Q9BUY7 (EFCAB11) A V 15 rs35435801 Benign
59836 Q9BUY7 (EFCAB11) D G 31 rs34486581 Benign
59837 Q9BUY7 (EFCAB11) T A 45 rs34911716 Benign
59838 Q9BUZ4 (TRAF4) A T 173 rs35932778 Benign
59839 Q9BUZ4 (TRAF4) R G 178 rs1044066 Benign
59840 Q9BV10 (ALG12) T M 67 rs121907931 Disease: Congenital disorder of glycosylatio n 1G (CDG1G) [MIM:607143]
59841 Q9BV10 (ALG12) G R 101 rs121907933 Disease: Congenital disorder of glycosylatio n 1G (CDG1G) [MIM:607143]
59842 Q9BV10 (ALG12) F V 142 rs28942090 Disease: Congenital disorder of glycosylatio n 1G (CDG1G) [MIM:607143]
59843 Q9BV10 (ALG12) R Q 146 rs121907932 Disease: Congenital disorder of glycosylatio n 1G (CDG1G) [MIM:607143]
59844 Q9BV10 (ALG12) L P 158 rs121907934 Disease: Congenital disorder of glycosylatio n 1G (CDG1G) [MIM:607143]
59845 Q9BV10 (ALG12) I V 393 rs3922872 Benign
59846 Q9BV19 (C1orf50) T M 178 rs11548275 Benign
59847 Q9BV20 (MRI1) M V 235 rs35098252 Benign
59848 Q9BV20 (MRI1) G A 319 rs10402855 Benign
59849 Q9BV23 (ABHD6) R H 113 rs200333190 Benign
59850 Q9BV23 (ABHD6) S C 148 rs11544004 Benign
59851 Q9BV23 (ABHD6) P L 204 rs199678322 Benign
59852 Q9BV23 (ABHD6) T P 206 rs199696239 Benign
59853 Q9BV23 (ABHD6) G V 231 rs745824058 Benign
59854 Q9BV29 (CCDC32) K I 2 rs10152546 Benign
59855 Q9BV36 (MLPH) R W 35 rs119473031 Disease: Griscelli syndrome 3 (GS3) [MIM:609227]
59856 Q9BV36 (MLPH) R W 139 rs2292880 Benign
59857 Q9BV36 (MLPH) L P 153 rs3751109 Benign
59858 Q9BV36 (MLPH) D N 163 rs3751108 Benign
59859 Q9BV36 (MLPH) G D 172 rs3751107 Benign
59860 Q9BV36 (MLPH) T I 289 rs11883500 Benign
59861 Q9BV36 (MLPH) H R 347 rs2292884 Benign
59862 Q9BV36 (MLPH) V A 374 rs3817362 Benign
59863 Q9BV36 (MLPH) P S 451 rs58256353 Benign
59864 Q9BV38 (WDR18) A T 172 rs2158367 Benign
59865 Q9BV38 (WDR18) L F 213 rs35068100 Benign
59866 Q9BV38 (WDR18) V I 264 rs11538683 Benign
59867 Q9BV44 (THUMPD3) R Q 459 rs1129174 Benign
59868 Q9BV68 (RNF126) V M 68 rs2285751 Benign
59869 Q9BV73 (CEP250) Q H 995 rs2296403 Benign
59870 Q9BV73 (CEP250) Q E 1072 rs17092706 Benign
59871 Q9BV73 (CEP250) R Q 1441 rs3748433 Benign
59872 Q9BV79 (MECR) F L 96 rs1128400 Benign
59873 Q9BV79 (MECR) R K 227 rs11544658 Benign
59874 Q9BV79 (MECR) G E 232 rs762913101 Disease: Dystonia, childhood- onset, with optic atrophy and basal ganglia abnormalitie s (DYTOABG) [MIM:617282]
59875 Q9BV79 (MECR) R L 258 rs34835902 Benign
59876 Q9BV79 (MECR) R W 258 rs145192716 Disease: Dystonia, childhood- onset, with optic atrophy and basal ganglia abnormalitie s (DYTOABG) [MIM:617282]
59877 Q9BV79 (MECR) Y C 285 rs759218713 Disease: Dystonia, childhood- onset, with optic atrophy and basal ganglia abnormalitie s (DYTOABG) [MIM:617282]
59878 Q9BV87 (CNPPD1) I T 262 rs1043160 Benign
59879 Q9BV87 (CNPPD1) L P 292 rs1127102 Benign
59880 Q9BV87 (CNPPD1) R T 344 rs1043161 Benign
59881 Q9BV87 (CNPPD1) P L 366 rs17655123 Benign
59882 Q9BV87 (CNPPD1) L P 383 rs4674361 Benign
59883 Q9BV94 (EDEM2) A T 456 rs3746429 Benign
59884 Q9BV94 (EDEM2) R Q 510 rs6060248 Benign
59885 Q9BV94 (EDEM2) L F 556 rs1052056 Benign
59886 Q9BV99 (LRRC61) N S 143 rs3735169 Benign
59887 Q9BVA0 (KATNB1) G W 33 rs730880259 Disease: Lissencephal y 6, with microcephaly (LIS6) [MIM:616212]
59888 Q9BVA0 (KATNB1) M V 181 rs60158050 Benign
59889 Q9BVA0 (KATNB1) S L 535 rs730880257 Disease: Lissencephal y 6, with microcephaly (LIS6) [MIM:616212]
59890 Q9BVA0 (KATNB1) L R 540 rs730880258 Disease: Lissencephal y 6, with microcephaly (LIS6) [MIM:616212]
59891 Q9BVA1 (TUBB2B) L P 117 rs397514569 Disease: Cortical dysplasia, complex, with other brain malformation s 7 (CDCBM7) [MIM:610031]
59892 Q9BVA1 (TUBB2B) S P 172 rs137853194 Disease: Cortical dysplasia, complex, with other brain malformation s 7 (CDCBM7) [MIM:610031]
59893 Q9BVA1 (TUBB2B) C S 201 rs1054331 Benign
59894 Q9BVA1 (TUBB2B) I T 210 - Disease: Cortical dysplasia, complex, with other brain malformation s 7 (CDCBM7) [MIM:610031]
59895 Q9BVA1 (TUBB2B) L P 228 rs137853195 Disease: Cortical dysplasia, complex, with other brain malformation s 7 (CDCBM7) [MIM:610031]
59896 Q9BVA1 (TUBB2B) C F 239 rs878853284 Disease: Cortical dysplasia, complex, with other brain malformation s 7 (CDCBM7) [MIM:610031]
59897 Q9BVA1 (TUBB2B) N S 256 rs397514568 Disease: Cortical dysplasia, complex, with other brain malformation s 7 (CDCBM7) [MIM:610031]
59898 Q9BVA1 (TUBB2B) F L 265 rs137853196 Disease: Cortical dysplasia, complex, with other brain malformation s 7 (CDCBM7) [MIM:610031]
59899 Q9BVA1 (TUBB2B) T M 312 - Disease: Cortical dysplasia, complex, with other brain malformation s 7 (CDCBM7) [MIM:610031]
59900 Q9BVA1 (TUBB2B) R Q 390 - Disease: -
59901 Q9BVA1 (TUBB2B) D N 417 rs397514567 Disease: Cortical dysplasia, complex, with other brain malformation s 7 (CDCBM7) [MIM:610031]
59902 Q9BVA1 (TUBB2B) E K 421 rs398122369 Disease: Cortical dysplasia, complex, with other brain malformation s 7 (CDCBM7) [MIM:610031]
59903 Q9BVC3 (DSCC1) H R 376 rs1055130 Benign
59904 Q9BVC5 (C2orf49) G D 185 rs28930676 Benign
59905 Q9BVG8 (KIFC3) G V 391 rs17854089 Benign
59906 Q9BVI0 (PHF20) V M 605 rs17431878 Benign
59907 Q9BVJ6 (UTP14A) V A 487 rs2281278 Benign
59908 Q9BVJ6 (UTP14A) D G 771 rs1055032 Benign
59909 Q9BVJ7 (DUSP23) E V 124 rs11544443 Benign
59910 Q9BVJ7 (DUSP23) G S 131 rs1129923 Benign
59911 Q9BVK2 (ALG8) T P 47 rs121908293 Disease: Congenital disorder of glycosylatio n 1H (CDG1H) [MIM:608104]
59912 Q9BVK2 (ALG8) N S 222 rs665278 Benign
59913 Q9BVK2 (ALG8) G D 275 rs121908294 Disease: Congenital disorder of glycosylatio n 1H (CDG1H) [MIM:608104]
59914 Q9BVK2 (ALG8) I T 439 rs17825668 Benign
59915 Q9BVK6 (TMED9) T S 16 rs57960711 Benign
59916 Q9BVK8 (TMEM147) Y H 132 rs1269215 Benign
59917 Q9BVL2 (NUP58) A T 34 rs11556093 Benign
59918 Q9BVL2 (NUP58) S P 166 rs12871608 Benign
59919 Q9BVL4 (SELENOO) V A 3 rs5771225 Benign
59920 Q9BVL4 (SELENOO) T N 167 rs2272846 Benign
59921 Q9BVL4 (SELENOO) E K 630 rs2272852 Benign
59922 Q9BVL4 (SELENOO) E K 638 rs17013238 Benign
59923 Q9BVM2 (DPCD) S R 56 rs1331419018 Benign
59924 Q9BVM2 (DPCD) L S 156 rs7006 Benign
59925 Q9BVN2 (RUSC1) S F 362 rs12061020 Benign
59926 Q9BVN2 (RUSC1) V A 493 rs35826120 Benign
59927 Q9BVP2 (GNL3) R Q 39 rs11177 Benign
59928 Q9BVP2 (GNL3) V M 367 rs2289247 Benign
59929 Q9BVQ7 (SPATA5L1) R P 119 rs1153850 Benign
59930 Q9BVQ7 (SPATA5L1) R Q 252 rs7182723 Benign
59931 Q9BVQ7 (SPATA5L1) N D 592 rs16943025 Benign
59932 Q9BVR0 (HERC2P3) L P 759 rs17134681 Benign
59933 Q9BVR0 (HERC2P3) R I 1119 rs4931826 Benign
59934 Q9BVS4 (RIOK2) S C 96 rs2544773 Benign
59935 Q9BVS4 (RIOK2) H R 144 rs35165987 Benign
59936 Q9BVS4 (RIOK2) H Y 144 rs17849382 Benign
59937 Q9BVS4 (RIOK2) R H 155 rs34916955 Benign
59938 Q9BVS4 (RIOK2) V I 175 rs35713904 Benign
59939 Q9BVS4 (RIOK2) M V 244 rs33996030 Benign
59940 Q9BVS4 (RIOK2) G R 349 rs160632 Benign
59941 Q9BVS4 (RIOK2) N S 397 rs12188395 Benign
59942 Q9BVS4 (RIOK2) E D 409 rs35829000 Benign
59943 Q9BVS4 (RIOK2) R H 507 rs34555783 Benign
59944 Q9BVV6 (KIAA0586) D V 566 - Disease: Joubert syndrome 23 (JBTS23) [MIM:616490]
59945 Q9BVV6 (KIAA0586) L P 828 rs1748986 Benign
59946 Q9BVV7 (TIMM21) G S 79 rs3737512 Benign
59947 Q9BVW5 (TIPIN) R P 53 rs9806123 Benign
59948 Q9BVW5 (TIPIN) A G 111 rs2063690 Benign
59949 Q9BVW5 (TIPIN) L P 260 rs3759787 Benign
59950 Q9BVW5 (TIPIN) A S 267 rs3759786 Benign
59951 Q9BVW5 (TIPIN) N D 270 rs34848112 Benign
59952 Q9BVW5 (TIPIN) N S 270 rs780014564 Benign
59953 Q9BVX2 (TMEM106C) V F 103 rs35000511 Benign
59954 Q9BVX2 (TMEM106C) S F 175 rs2286025 Benign
59955 Q9BW04 (SARG) P S 87 rs706846 Benign
59956 Q9BW04 (SARG) T A 107 rs35299018 Benign
59957 Q9BW04 (SARG) N T 157 rs34660159 Benign
59958 Q9BW04 (SARG) R G 258 rs12062114 Benign
59959 Q9BW04 (SARG) N S 434 rs35267170 Benign
59960 Q9BW04 (SARG) S P 444 rs2842726 Benign
59961 Q9BW04 (SARG) F S 514 rs11799966 Benign
59962 Q9BW11 (MXD3) Q H 114 rs35691394 Benign
59963 Q9BW19 (KIFC1) R Q 219 rs61736175 Benign
59964 Q9BW27 (NUP85) A P 581 - Disease: Nephrotic syndrome 17 (NPHS17) [MIM:618176]
59965 Q9BW27 (NUP85) R W 645 rs368572297 Disease: Nephrotic syndrome 17 (NPHS17) [MIM:618176]
59966 Q9BW60 (ELOVL1) S F 165 - Disease: Ichthyotic keratoderma, spasticity, hypomyelinat ion, and dysmorphic facies (IKSHD) [MIM:618527]
59967 Q9BW66 (CINP) R H 164 rs7011 Benign
59968 Q9BW71 (HIRIP3) A V 496 rs35431046 Benign
59969 Q9BW71 (HIRIP3) G W 521 rs11643314 Benign
59970 Q9BW83 (IFT27) C Y 100 rs587777546 Disease: Bardet-Biedl syndrome 19 (BBS19) [MIM:615996]
59971 Q9BW92 (TARS2) P L 282 rs587777593 Disease: Combined oxidative phosphorylat ion deficiency 21 (COXPD21) [MIM:615918]
59972 Q9BWD1 (ACAT2) K R 211 rs25683 Benign
59973 Q9BWD3 (RTL8A) S C 48 rs2498776 Benign
59974 Q9BWE0 (REPIN1) L P 14 rs3735165 Benign
59975 Q9BWE0 (REPIN1) G R 49 rs35090619 Benign
59976 Q9BWE0 (REPIN1) P S 88 rs11553624 Benign
59977 Q9BWE0 (REPIN1) R H 92 rs17173702 Benign
59978 Q9BWE0 (REPIN1) A V 97 rs17173703 Benign
59979 Q9BWF2 (TRAIP) R C 18 rs864622784 Disease: Seckel syndrome 9 (SCKL9) [MIM:616777]
59980 Q9BWH6 (RPAP1) K M 165 rs2297382 Benign
59981 Q9BWH6 (RPAP1) R Q 429 rs2289741 Benign
59982 Q9BWH6 (RPAP1) E K 506 rs1200345 Benign
59983 Q9BWH6 (RPAP1) R G 582 rs11630901 Benign
59984 Q9BWH6 (RPAP1) Q E 825 rs8027526 Benign
59985 Q9BWH6 (RPAP1) R G 1108 rs7170898 Benign
59986 Q9BWN1 (PRR14) P L 359 rs3747481 Benign
59987 Q9BWP8 (COLEC11) S P 169 rs387907075 Disease: 3MC syndrome 2 (3MC2) [MIM:265050]
59988 Q9BWP8 (COLEC11) G S 204 rs387907076 Disease: 3MC syndrome 2 (3MC2) [MIM:265050]
59989 Q9BWP8 (COLEC11) H R 219 rs7567833 Benign
59990 Q9BWS9 (CHID1) R Q 331 rs1127800 Benign
59991 Q9BWS9 (CHID1) A V 338 rs6682 Benign
59992 Q9BWT1 (CDCA7) R C 274 rs879253738 Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 3 (ICF3) [MIM:616910]
59993 Q9BWT1 (CDCA7) R H 274 rs370384522 Disease: Immunodefici ency- centromeric instability- facial anomalies syndrome 3 (ICF3) [MIM:616910]
59994 Q9BWT7 (CARD10) R Q 289 rs9610775 Benign
59995 Q9BWU0 (SLC4A1AP) P T 139 rs9678851 Benign
59996 Q9BWU0 (SLC4A1AP) R C 181 rs9679004 Benign
59997 Q9BWV1 (BOC) K N 883 rs35536878 Benign
59998 Q9BWV1 (BOC) Q H 915 rs3814405 Benign
59999 Q9BWV2 (SPATA9) K E 209 rs34297786 Benign
60000 Q9BWV7 (TTLL2) G R 3 rs12526094 Benign

Reference

  • Jaie Woodard, Chengxin Zhang, and Yang Zhang (2020) ADDRESS: A database of human disease-associated variants incorporating protein structure, binding and folding stabilities.

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