PMID: 18974781

Cataloging coding sequence variations in human genome databases.

PloS one
HH Won, HJ Kim, KA Lee, JW Kim
2008

1174 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-142655008-G-C KEL c.578C>G p.Thr193Arg Missense 6/19 -
7-142655008-G-A KEL c.578C>T p.Thr193Met Missense 6/19 -
17-39023053-A-G KRT12 c.386T>C p.Met129Thr Missense 1/8 -
12-14982352-G-C ART4 c.898C>G p.Leu300Val Missense 3/3 -
13-32911295-G-A BRCA2 c.2803G>A p.Asp935Asn Missense 11/27 -
4-100260789-T-A ADH1C c.1048A>T p.Ile350Phe Missense 8/9 -
11-74168361-C-T KCNE3 c.248G>A p.Arg83His Missense 3/3 -
8-31024654-T-C WRN c.4099T>C p.Cys1367Arg Missense 34/35 -
1-94496053-G-A ABCA4 c.4283C>T p.Thr1428Met Missense 29/50 -
17-41258504-A-T BRCA1 c.181T>A p.Cys61Ser Missense 4/23 -
18-58039248-G-A MC4R c.335C>T p.Thr112Met Missense 1/1 -
16-89874756-G-A FANCA c.542C>T p.Ala181Val Missense 6/43 -
17-41243840-A-G BRCA1 c.3708T>C p.Asn1236Asn Synonymous 10/23 -
17-41243840-A-C BRCA1 c.3708T>G p.Asn1236Lys Missense 10/23 -
6-121768420-G-A GJA1 c.427G>A p.Gly143Ser Missense 2/2 -
3-121980562-G-T CASR c.680G>T p.Arg227Leu Missense 4/7 -
4-4861877-A-G MSX1 c.251A>G p.Glu84Gly Missense 1/2 -
4-4861877-A-T MSX1 c.251A>T p.Glu84Val Missense 1/2 -
21-44480590-C-T CBS c.1106G>A p.Arg369His Missense 12/17 -
1-24122692-G-A GALE c.937C>T p.Leu313Leu Synonymous 11/12 -
22-42525821-G-T CYP2D6 c.271C>A p.Leu91Met Missense 2/9 -
3-10183725-C-T VHL c.194C>T p.Ser65Leu Missense 1/3 -
3-10183725-C-G VHL c.194C>G p.Ser65Trp Missense 1/3 -
3-10183725-C-A VHL c.194C>A p.Ser65* Nonsense 1/3 -
6-78172750-A-C HTR1B c.371T>G p.Phe124Cys Missense 1/1 -
19-5844367-C-T FUT3 c.484G>A p.Asp162Asn Missense 3/3 -
19-17945696-C-T JAK3 c.2164G>A p.Val722Ile Missense 16/24 -
11-2591882-G-C KCNQ1 c.502G>C p.Gly168Arg Missense 3/16 -
4-1806638-G-T FGFR3 c.1354G>T p.Ala452Ser Missense 10/18 -
4-1806638-G-C FGFR3 c.1354G>C p.Ala452Pro Missense 10/18 -
12-58145431-G-T CDK4 c.70C>A p.Arg24Ser Missense 2/8 -
12-121176971-C-T ACADS c.1058C>T p.Ser353Leu Missense 9/10 -
7-99358459-G-A CYP3A4 c.1396C>T p.Pro466Ser Missense 12/13 -
8-143956693-G-T CYP11B1 c.1157C>A p.Ala386Glu Missense 7/9 -
8-143956693-G-A CYP11B1 c.1157C>T p.Ala386Val Missense 7/9 -
15-48773971-T-C FBN1 c.3845A>G p.Asn1282Ser Missense 32/66 -
3-10191540-T-A VHL c.533T>A p.Leu178Gln Missense 3/3 -
3-10191540-T-G VHL c.533T>G p.Leu178Arg Missense 3/3 -
1-171303690-T-C FMO4 c.968T>C p.Val323Ala Missense 8/10 -
16-89985940-G-C MC1R c.274G>C p.Val92Leu Missense 1/1 -
1-25747230-G-A RHCE c.48C>T p.Cys16Cys Synonymous 1/10 -
6-52617738-G-A GSTA2 c.328C>T p.Pro110Ser Missense 5/7 -
12-103246708-G-A PAH c.727C>T p.Arg243* Nonsense 7/13 -
5-179740827-T-C GFPT2 c.1411A>G p.Ile471Val Missense 14/19 -
5-131411460-T-C CSF2 c.350T>C p.Ile117Thr Missense 4/4 -
4-4861991-G-A MSX1 c.365G>A p.Gly122Glu Missense 1/2 -
1-155261649-C-T PKLR c.1516G>A p.Val506Ile Missense 10/11 -
17-54671687-C-T NOG c.103C>T p.Pro35Ser Missense 1/1 -
11-2799220-C-T KCNQ1 c.1747C>T p.Arg583Cys Missense 15/16 -
3-160803746-T-G B3GALNT1 c.797A>C p.Glu266Ala Missense 6/6 -
2-85779042-C-G GGCX c.1502G>C p.Trp501Ser Missense 11/15 -
3-129252553-C-T RHO c.1039C>T p.Pro347Ser Missense 5/5 -
4-4861991-G-T MSX1 c.365G>T p.Gly122Val Missense 1/2 -
3-183861899-T-C EIF2B5 c.1882T>C p.Trp628Arg Missense 14/16 -
22-50964236-G-T TYMP c.1412C>A p.Ser471* Nonsense 10/10 -
22-50964236-G-C TYMP c.1412C>G p.Ser471Trp Missense 10/10 -
6-46679303-A-G PLA2G7 c.593T>C p.Ile198Thr Missense 7/12 -
12-103246653-C-G PAH c.782G>C p.Arg261Pro Missense 7/13 -
12-103246653-C-A PAH c.782G>T p.Arg261Leu Missense 7/13 -
12-103246653-C-T PAH c.782G>A p.Arg261Gln Missense 7/13 -
10-96541615-C-T CYP2C19 c.680C>T p.Pro227Leu Missense 5/9 -
13-77574715-G-A CLN5 c.688G>A - missense_variant 4/4 -
2-47630353-C-T MSH2 c.23C>T p.Thr8Met Missense 1/16 -
2-47630353-C-G MSH2 c.23C>G p.Thr8Arg Missense 1/16 -
16-67470018-C-T HSD11B2 c.637C>T p.Arg213Cys Missense 3/5 -
16-67470018-C-A HSD11B2 c.637C>A p.Arg213Ser Missense 3/5 -
3-10191540-T-C VHL c.533T>C p.Leu178Pro Missense 3/3 -
16-3293310-A-T MEFV c.2177T>A p.Val726Asp Missense 10/10 -
12-103306594-A-G PAH c.143T>C p.Leu48Ser Missense 2/13 -
13-32907129-T-C BRCA2 c.1514T>C p.Ile505Thr Missense 10/27 -
9-98997810-C-T HSD17B3 c.865G>A p.Gly289Ser Missense 11/11 -
9-98997810-C-G HSD17B3 c.865G>C p.Gly289Arg Missense 11/11 -
9-98997810-C-A HSD17B3 c.865G>T p.Gly289Cys Missense 11/11 -
13-32913077-G-A BRCA2 c.4585G>A p.Gly1529Arg Missense 11/27 -
1-171080080-G-A FMO3 c.769G>A p.Val257Met Missense 6/9 -
3-10191506-C-T VHL c.499C>T p.Arg167Trp Missense 3/3 -
1-27239920-C-G NR0B2 c.512G>C p.Gly171Ala Missense 1/2 -
11-73717343-G-A UCP3 c.208C>T p.Arg70Trp Missense 3/7 -
1-171176912-T-C FMO2 c.1239T>C p.Asn413Asn Synonymous 8/9 -
11-66618389-C-A PC c.2229G>T p.Met743Ile Missense 18/23 -
2-38302350-C-T CYP1B1 c.182G>A p.Gly61Glu Missense 2/3 -
6-26091582-A-C HFE c.381A>C p.Gln127His Missense 3/6 -
17-41245071-G-T BRCA1 c.2477C>A p.Thr826Lys Missense 10/23 -
12-109017898-C-T SELPLG c.234G>A p.Met78Ile Missense 2/2 -
1-171176912-T-A FMO2 c.1239T>A p.Asn413Lys Missense 8/9 -
1-171176912-T-G FMO2 c.1239T>G p.Asn413Lys Missense 8/9 -
2-49190614-G-A FSHR c.1346C>T p.Thr449Ile Missense 10/10 -
2-49190614-G-T FSHR c.1346C>A p.Thr449Asn Missense 10/10 -
1-20915701-A-C CDA c.79A>C p.Lys27Gln Missense 1/4 -
10-72358804-G-A PRF1 c.673C>T p.Arg225Trp Missense 3/3 -
12-121416864-C-T HNF1A c.293C>T p.Ala98Val Missense 1/10 -
11-108159732-C-T ATM c.4138C>T p.His1380Tyr Missense 28/63 -
1-94463617-C-T ABCA4 c.6529G>A p.Asp2177Asn Missense 48/50 -
2-208992950-G-A CRYGC c.502C>T p.Arg168Trp Missense 3/3 -
15-48756146-C-G FBN1 c.5015G>C p.Cys1672Ser Missense 41/66 -
15-48756146-C-A FBN1 c.5015G>T p.Cys1672Phe Missense 41/66 -
14-36986962-G-T NKX2-1 c.637C>A p.Arg213Ser Missense 2/2 -
15-48756146-C-T FBN1 c.5015G>A p.Cys1672Tyr Missense 41/66 -
11-32450067-G-T WT1 c.760C>A - missense_variant 2/9 -
11-32450067-G-A WT1 c.760C>T - missense_variant 2/9 -
13-110435231-C-T IRS2 c.3170G>A p.Gly1057Asp Missense 1/2 -
1-25747230-G-C RHCE c.48C>G p.Cys16Trp Missense 1/10 -
3-10183781-G-T VHL c.250G>T p.Val84Leu Missense 1/3 -
3-10183781-G-C VHL c.250G>C p.Val84Leu Missense 1/3 -
15-72643548-C-T HEXA c.598G>A p.Val200Met Missense 6/14 -
4-6303248-G-T WFS1 c.1726G>T p.Gly576Cys Missense 8/8 -
20-4680521-G-A PRNP c.655G>A p.Glu219Lys Missense 2/2 -
19-41597751-C-A CYP2A13 c.769C>A p.Arg257Ser Missense 5/9 -
17-19812541-T-C AKAP10 c.1936A>G p.Ile646Val Missense 14/15 -
11-88911737-G-A TYR c.616G>A p.Ala206Thr Missense 1/5 -
3-195800811-C-T TFRC c.424G>A p.Gly142Ser Missense 4/19 -
12-52824351-C-T KRT75 c.1009G>A p.Glu337Lys Missense 5/9 -
7-99361626-A-G CYP3A4 c.875T>C p.Leu292Pro Missense 10/13 -
11-108138045-C-A ATM c.2614C>A p.Pro872Thr Missense 17/63 -
X-100653551-A-G GLA c.806T>C p.Val269Ala Missense 6/7 -
1-171251196-A-G FMO1 c.907A>G p.Ile303Val Missense 7/9 -
11-76867950-G-A MYO7A c.635G>A p.Arg212His Missense 7/49 -
4-996555-G-C IDUA c.1225G>C p.Gly409Arg Missense 9/14 -
3-38648200-C-A SCN5A c.1100G>T p.Arg367Leu Missense 9/28 -
13-32914592-C-T BRCA2 c.6100C>T p.Arg2034Cys Missense 11/27 -
13-32914592-C-A BRCA2 c.6100C>A p.Arg2034Ser Missense 11/27 -
17-42335888-G-T SLC4A1 c.980C>A p.Pro327His Missense 10/20 -
17-42335888-G-C SLC4A1 c.980C>G p.Pro327Arg Missense 10/20 -
17-42335888-G-A SLC4A1 c.980C>T p.Pro327Leu Missense 10/20 -
3-46414573-G-T CCR5 c.180G>T p.Arg60Ser Missense 3/3 -
3-129251195-A-C RHO c.632A>C p.His211Pro Missense 3/5 -
1-53675866-G-A CPT2 c.520G>A p.Glu174Lys Missense 4/5 -
2-20205639-G-T MATN3 c.656C>A p.Ala219Asp Missense 2/8 -
X-100653374-C-G GLA c.983G>C p.Gly328Ala Missense 6/7 -
1-171168545-T-C FMO2 c.545T>C p.Phe182Ser Missense 5/9 -
1-115236057-G-T AMPD1 c.133C>A p.Gln45Lys Missense 2/16 -
19-5844184-C-T FUT3 c.667G>A p.Gly223Arg Missense 3/3 -
1-115236057-G-A AMPD1 c.133C>T p.Gln45* Nonsense 2/16 -
20-47570114-G-A ARFGEF2 c.625G>A p.Glu209Lys Missense 6/39 -
12-58157952-G-A CYP27B1 c.1144C>T p.Pro382Ser Missense 7/9 -
X-53459034-G-A HSD17B10 c.388C>T p.Arg130Cys Missense 4/6 -
3-170732328-C-G SLC2A2 c.301G>C p.Val101Leu Missense 3/11 -
11-68174189-G-A LRP5 c.1999G>A p.Val667Met Missense 9/23 -
11-68174189-G-C LRP5 c.1999G>C p.Val667Leu Missense 9/23 -
11-2610034-C-T KCNQ1 c.1343C>T p.Pro448Leu Missense 10/16 -
11-2610034-C-G KCNQ1 c.1343C>G p.Pro448Arg Missense 10/16 -
11-2610034-C-A KCNQ1 c.1343C>A p.Pro448Gln Missense 10/16 -
X-20173553-C-T RPS6KA3 c.2186G>A p.Arg729Gln Missense 22/22 -
1-94461717-C-A ABCA4 c.6764G>T p.Ser2255Ile Missense 49/50 -
12-116457651-T-C MED13L c.752A>G p.Glu251Gly Missense 6/31 -
12-52309891-C-A ACVRL1 c.1120C>A p.Arg374Arg Synonymous 8/10 -
X-153297737-G-C MECP2 c.298C>G p.Leu100Val Missense 3/4 -
12-116413092-C-T MED13L c.5615G>A p.Arg1872His Missense 25/31 -
12-103246593-G-A PAH c.842C>T p.Pro281Leu Missense 7/13 -
12-4479730-G-T FGF23 c.535C>A p.Arg179Arg Synonymous 3/3 -
17-76867017-C-T TIMP2 c.303G>A p.Ser101Ser Synonymous 3/5 -
12-4479730-G-A FGF23 c.535C>T p.Arg179Trp Missense 3/3 -
14-25101589-G-C GZMB c.280C>G p.Pro94Ala Missense 3/5 -
1-94476467-T-A ABCA4 c.5603A>T p.Asn1868Ile Missense 40/50 -
16-3299468-C-A MEFV c.1223G>T p.Arg408Leu Missense 3/10 -
X-153297719-G-C MECP2 c.316C>G p.Arg106Gly Missense 3/4 -
3-10183785-T-C VHL c.254T>C p.Leu85Pro Missense 1/3 -
8-143961102-C-T CYP11B1 c.128G>A p.Arg43Gln Missense 1/9 -
4-6303668-G-A WFS1 c.2146G>A p.Ala716Thr Missense 8/8 -
4-6303327-C-T WFS1 c.1805C>T p.Ala602Val Missense 8/8 -
11-88911246-A-G TYR c.125A>G p.Asp42Gly Missense 1/5 -
5-78135241-C-T ARSB c.1151G>A p.Ser384Asn Missense 6/8 -
X-48542363-C-T WAS c.121C>T p.Arg41* Nonsense 1/12 -
17-41245027-G-A BRCA1 c.2521C>T p.Arg841Trp Missense 10/23 -
X-153763492-T-A G6PD c.466A>T p.Asn156Tyr Missense 5/13 -
22-32445946-A-G SLC5A1 c.152A>G p.Asn51Ser Missense 2/15 -
3-10191555-C-A VHL c.548C>A p.Ser183* Nonsense 3/3 -
12-103234270-C-T PAH c.1223G>A p.Arg408Gln Missense 12/13 -
1-94543389-C-T ABCA4 c.1411G>A p.Glu471Lys Missense 11/50 -
17-42338084-C-T SLC4A1 c.268G>A p.Glu90Lys Missense 5/20 -
12-5021221-C-T KCNA1 c.677C>T p.Thr226Met Missense 2/2 -
11-59863104-A-G MS4A2 c.710A>G p.Glu237Gly Missense 7/7 -
6-26091306-T-C HFE c.314T>C p.Ile105Thr Missense 2/6 -
14-25100282-A-G GZMB c.739T>C p.Tyr247His Missense 5/5 -
3-129252554-C-G RHO c.1040C>G p.Pro347Arg Missense 5/5 -
16-75513206-T-C CHST6 c.521A>G p.Lys174Arg Missense 3/3 -
12-103248929-A-G PAH c.691T>C p.Ser231Pro Missense 6/13 -
12-5021221-C-A KCNA1 c.677C>A p.Thr226Lys Missense 2/2 -
16-75513128-A-C CHST6 c.599T>G p.Leu200Arg Missense 3/3 -
19-18896906-T-C COMP c.1358A>G p.Asn453Ser Missense 13/19 -
1-35250457-C-A GJB3 c.94C>A p.Arg32Arg Synonymous 2/2 -
1-35250457-C-T GJB3 c.94C>T p.Arg32Trp Missense 2/2 -
3-10191605-C-T VHL c.598C>T p.Arg200Trp Missense 3/3 -
9-21970979-C-A CDKN2A c.379G>T p.Ala127Ser Missense 2/3 -
22-50964236-G-A TYMP c.1412C>T p.Ser471Leu Missense 10/10 -
11-108138045-C-T ATM c.2614C>T p.Pro872Ser Missense 17/63 -
15-48905270-G-A FBN1 c.184C>T p.Arg62Cys Missense 3/66 -
1-197396689-C-G CRB1 c.2234C>G p.Thr745Arg Missense 7/12 -
7-117199643-C-A CFTR c.1518C>A p.Ile506Ile Synonymous 11/27 -
11-2790111-C-T KCNQ1 c.1552C>T p.Arg518* Nonsense 12/16 -
11-2790111-C-G KCNQ1 c.1552C>G p.Arg518Gly Missense 12/16 -
X-100653062-C-T GLA c.1025G>A p.Arg342Gln Missense 7/7 -
1-197396689-C-T CRB1 c.2234C>T p.Thr745Met Missense 7/12 -
3-10183739-G-T VHL c.208G>T p.Glu70* Nonsense 1/3 -
1-156084887-C-T LMNA c.178C>T p.Arg60Cys Missense 1/12 -
1-156084887-C-G LMNA c.178C>G p.Arg60Gly Missense 1/12 -
19-36322601-T-C NPHS1 c.3230A>G p.Asn1077Ser Missense 24/29 -
X-100613318-T-C BTK c.1082A>G p.Tyr361Cys Missense 12/19 -
10-43610119-G-T RET c.2071G>T p.Gly691Cys Missense 11/20 -
10-43610119-G-C RET c.2071G>C p.Gly691Arg Missense 11/20 -
4-6303680-A-C WFS1 c.2158A>C p.Ile720Leu Missense 8/8 -
4-6303680-A-G WFS1 c.2158A>G p.Ile720Val Missense 8/8 -
21-35821913-G-A KCNE1 c.20C>T p.Thr7Ile Missense 4/4 -
X-107834453-T-G COL4A5 c.1331T>G p.Ile444Ser Missense 20/51 -
11-95569448-T-C MTMR2 c.1634A>G p.Asn545Ser Missense 14/15 -
12-6127891-C-A VWF c.4693G>T p.Val1565Leu Missense 28/52 -
17-41244429-C-T BRCA1 c.3119G>A p.Ser1040Asn Missense 10/23 -
X-100653378-G-T GLA c.979C>A p.Gln327Lys Missense 6/7 -
3-138665314-A-C FOXL2 c.251T>G p.Ile84Ser Missense 1/1 -
16-20360180-C-T UMOD c.443G>A p.Cys148Tyr Missense 3/11 -
3-57232274-G-A HESX1 c.509C>T p.Ser170Leu Missense 4/4 -
17-41244429-C-G BRCA1 c.3119G>C p.Ser1040Thr Missense 10/23 -
13-20763380-T-C GJB2 c.341A>G p.Glu114Gly Missense 2/2 -
1-156104620-C-T LMNA c.664C>T p.His222Tyr Missense 4/12 -
2-211456617-A-G CPS1 c.1010A>G - missense_variant 11/39 -
13-47466549-T-C HTR2A c.589A>G p.Ile197Val Missense 3/4 -
11-67800614-C-T NDUFS8 c.236C>T p.Pro79Leu Missense 5/7 -
16-89986546-G-A MC1R c.880G>A p.Asp294Asn Missense 1/1 -
2-38298169-G-C CYP1B1 c.1328C>G p.Ala443Gly Missense 3/3 -
2-38298169-G-A CYP1B1 c.1328C>T p.Ala443Val Missense 3/3 -
2-227661921-C-G IRS1 c.1534G>C p.Ala512Pro Missense 1/2 -
22-50962330-G-A SCO2 c.511C>T p.Arg171Trp Missense 2/2 -
11-64577506-C-A MEN1 c.76G>T p.Glu26* Nonsense 2/10 -
19-15302945-G-A NOTCH3 c.505C>T p.Arg169Cys Missense 4/33 -
13-48919246-A-T RB1 c.411A>T p.Glu137Asp Missense 4/27 -
19-5843784-A-C FUT3 c.1067T>G p.Ile356Arg Missense 3/3 -
11-64577506-C-T MEN1 c.76G>A p.Glu26Lys Missense 2/10 -
12-103288666-A-G PAH c.199T>C p.Ser67Pro Missense 3/13 -
9-134381604-G-A POMT1 c.226G>A p.Gly76Arg Missense 3/20 -
13-32968940-A-T BRCA2 c.9371A>T p.Asn3124Ile Missense 25/27 -
18-58038829-C-T MC4R c.754G>A p.Gly252Ser Missense 1/1 -
16-67470523-C-T HSD11B2 c.835C>T p.Arg279Cys Missense 5/5 -
12-125348263-C-T SCARB1 c.4G>A p.Gly2Ser Missense 1/13 -
4-996555-G-A IDUA c.1225G>A p.Gly409Arg Missense 9/14 -
19-38990637-G-T RYR1 c.7304G>T p.Arg2435Leu Missense 45/106 -
17-36099446-G-A HNF1B c.529C>T p.Arg177* Nonsense 2/9 -
6-132172368-A-C ENPP1 c.517A>C p.Lys173Gln Missense 4/25 -
13-32914132-T-G BRCA2 c.5640T>G p.Asn1880Lys Missense 11/27 -
12-48526712-G-A PFKM c.299G>A p.Arg100Gln Missense 5/23 -
18-58039221-A-G MC4R c.362T>C p.Ile121Thr Missense 1/1 -
16-88876242-A-G APRT c.407T>C p.Met136Thr Missense 5/5 -
3-129252554-C-T RHO c.1040C>T p.Pro347Leu Missense 5/5 -
7-117307076-C-T CFTR c.4357C>T p.Arg1453Trp Missense 27/27 -
12-121177150-C-T ACADS c.1138C>T p.Arg380Trp Missense 10/10 -
7-117149147-G-T CFTR c.224G>T p.Arg75Leu Missense 3/27 -
12-121177150-C-G ACADS c.1138C>G p.Arg380Gly Missense 10/10 -
16-89833576-G-C FANCA c.2574C>G p.Ser858Arg Missense 27/43 -
7-117149147-G-A CFTR c.224G>A p.Arg75Gln Missense 3/27 -
4-6304014-G-C WFS1 c.2492G>C p.Gly831Ala Missense 8/8 -
7-87079406-T-A ABCB4 c.711A>T p.Ile237Ile Synonymous 8/28 -
12-58158293-C-T CYP27B1 c.1004G>A p.Arg335Gln Missense 6/9 -
11-88911285-G-C TYR c.164G>C p.Cys55Ser Missense 1/5 -
2-227662189-A-G IRS1 c.1266T>C p.Asp422Asp Synonymous 1/2 -
1-98157332-G-A DPYD c.703C>T p.Arg235Trp Missense 7/23 -
16-89869704-T-C FANCA c.755A>G p.Asp252Gly Missense 8/43 -
5-131915673-G-A RAD50 c.671G>A p.Arg224His Missense 5/25 -
11-88911285-G-A TYR c.164G>A p.Cys55Tyr Missense 1/5 -
4-6304014-G-A WFS1 c.2492G>A p.Gly831Asp Missense 8/8 -
2-176959342-C-T HOXD13 c.916C>T p.Arg306Trp Missense 2/2 -
12-14018777-G-T GRIN2B c.366C>A p.Pro122Pro Synonymous 2/13 -
21-35821838-C-T KCNE1 c.95G>A p.Arg32His Missense 4/4 -
2-176959342-C-G HOXD13 c.916C>G p.Arg306Gly Missense 2/2 -
1-161140257-A-C PPOX c.1046A>C p.Asp349Ala Missense 10/13 -
1-171076888-G-T FMO3 c.394G>T p.Asp132Tyr Missense 4/9 -
X-2852911-G-A ARSE c.1732C>T p.Pro578Ser Missense 11/11 -
5-121786403-C-G SNCAIP c.763C>G p.Arg255Gly Missense 8/10 -
11-17415881-G-A ABCC8 c.4477C>T p.Arg1493Trp Missense 37/39 -
12-9232351-C-T A2M c.2915G>A p.Cys972Tyr Missense 24/36 -
11-639830-T-G DRD4 c.581T>G p.Val194Gly Missense 3/4 -
5-121786403-C-T SNCAIP c.763C>T p.Arg255Cys Missense 8/10 -
3-129247734-C-G RHO c.158C>G p.Pro53Arg Missense 1/5 -
22-51065808-G-A ARSA c.251C>T p.Pro84Leu Missense 2/8 -
18-58039494-G-A MC4R c.89C>T p.Ser30Phe Missense 1/1 -
20-34021891-A-G GDF5 c.1322T>C p.Leu441Pro Missense 2/2 -
12-81101832-G-T MYF6 c.334G>T p.Ala112Ser Missense 1/3 -
8-18080001-G-C NAT1 c.445G>C p.Val149Leu Missense 3/3 -
3-10191590-C-T VHL c.583C>T p.Gln195* Nonsense 3/3 -
21-46309312-G-A ITGB2 c.1756C>T p.Arg586Trp Missense 13/16 -
1-171076888-G-C FMO3 c.394G>C p.Asp132His Missense 4/9 -
13-48955458-C-A RB1 c.1574C>A p.Ala525Asp Missense 17/27 -
13-48955458-C-G RB1 c.1574C>G p.Ala525Gly Missense 17/27 -
3-170716088-A-T SLC2A2 c.1268T>A p.Val423Glu Missense 10/11 -
22-51063874-G-A ARSA c.1229C>T p.Thr410Ile Missense 8/8 -
9-36217396-A-G GNE c.2135T>C p.Met712Thr Missense 12/12 -
7-117180343-A-C CFTR c.1059A>C p.Gln353His Missense 8/27 -
X-100653467-G-A GLA c.890C>T p.Ser297Phe Missense 6/7 -
7-117180343-A-G CFTR c.1059A>G p.Gln353Gln Synonymous 8/27 -
17-41215920-G-C BRCA1 c.5123C>G p.Ala1708Gly Missense 17/23 -
17-41215920-G-A BRCA1 c.5123C>T p.Ala1708Val Missense 17/23 -
8-106814279-A-G ZFPM2 c.1969A>G p.Ser657Gly Missense 8/8 -
1-35260769-C-T GJA4 c.955C>T p.Pro319Ser Missense 2/2 -
14-35873756-C-T NFKBIA c.95G>A p.Ser32Asn Missense 1/6 -
12-14018777-G-C GRIN2B c.366C>G p.Pro122Pro Synonymous 2/13 -
19-15299815-A-G NOTCH3 c.1363T>C p.Cys455Arg Missense 8/33 -
1-160105300-T-C ATP1A2 c.2192T>C p.Met731Thr Missense 16/23 -
11-108160350-C-T ATM c.4258C>T p.Leu1420Phe Missense 29/63 -
14-35873756-C-A NFKBIA c.95G>T p.Ser32Ile Missense 1/6 -
7-117199641-A-G CFTR c.1516A>G p.Ile506Val Missense 11/27 -
2-202072837-C-T CASP10 c.853C>T p.Leu285Phe Missense 8/10 -
7-117199641-A-C CFTR c.1516A>C p.Ile506Leu Missense 11/27 -
X-153296815-A-C MECP2 c.464T>G p.Phe155Cys Missense 4/4 -
17-7127707-G-A ACADVL c.1600G>A p.Glu534Lys Missense 16/20 -
5-142780337-C-G NR3C1 c.68G>C p.Arg23Thr Missense 2/9 -
16-89805301-G-C FANCA c.4249C>G p.His1417Asp Missense 42/43 -
16-89805301-G-A FANCA c.4249C>T p.His1417Tyr Missense 42/43 -
11-108124761-T-C ATM c.2119T>C p.Ser707Pro Missense 13/63 -
12-110012685-C-A MVK c.58C>A p.His20Asn Missense 2/11 -
19-38937350-G-C RYR1 c.742G>C p.Gly248Arg Missense 9/106 -
11-2604765-C-G KCNQ1 c.1022C>G p.Ala341Gly Missense 7/16 -
16-27373872-A-T IL4R c.1199A>T p.Glu400Val Missense 11/11 -
13-32937521-G-A BRCA2 c.8182G>A p.Val2728Ile Missense 18/27 -
13-32937521-G-C BRCA2 c.8182G>C p.Val2728Leu Missense 18/27 -
15-52643564-G-A MYO5A c.3736C>T p.Arg1246Cys Missense 28/41 -
3-129247749-C-G RHO c.173C>G p.Thr58Arg Missense 1/5 -
3-38645249-C-T SCN5A c.1844G>A p.Gly615Glu Missense 12/28 -
17-7578518-C-G TP53 c.412G>C p.Ala138Pro Missense 5/11 -
10-81371729-C-G SFTPA1 c.148C>G p.Leu50Val Missense 3/6 -
19-38990637-G-A RYR1 c.7304G>A p.Arg2435His Missense 45/106 -
5-142780337-C-T NR3C1 c.68G>A p.Arg23Lys Missense 2/9 -
12-110012685-C-T MVK c.58C>T p.His20Tyr Missense 2/11 -
19-38937350-G-T RYR1 c.742G>T p.Gly248Trp Missense 9/106 -
10-50678369-T-C ERCC6 c.3637A>G p.Arg1213Gly Missense 18/21 -
16-27373872-A-G IL4R c.1199A>G p.Glu400Gly Missense 11/11 -
17-7912879-C-T GUCY2D c.1724C>T p.Pro575Leu Missense 8/20 -
9-136220748-C-T SURF1 c.371G>A p.Gly124Glu Missense 5/9 -
1-153653757-G-C NPR1 c.1023G>C p.Met341Ile Missense 3/22 -
3-129247749-C-T RHO c.173C>T p.Thr58Met Missense 1/5 -
7-113518498-C-T PPP1R3A c.2649G>A p.Arg883Arg Synonymous 4/4 -
3-10191532-C-G VHL c.525C>G p.Tyr175* Nonsense 3/3 -
X-37587260-T-C XK c.880T>C p.Cys294Arg Missense 3/3 -
X-153296815-A-G MECP2 c.464T>C p.Phe155Ser Missense 4/4 -
3-10191578-C-G VHL c.571C>G p.His191Asp Missense 3/3 -
22-42276825-G-A SREBF2 c.1867G>A p.Val623Met Missense 10/19 -
2-176959390-A-G HOXD13 c.964A>G p.Ile322Val Missense 2/2 -
6-31324895-G-T HLA-B c.41C>A p.Ser14* Nonsense 1/8 -
6-31324895-G-C HLA-B c.41C>G p.Ser14Trp Missense 1/8 -
2-176959390-A-C HOXD13 c.964A>C p.Ile322Leu Missense 2/2 -
3-10188201-A-G VHL c.344A>G p.His115Arg Missense 2/3 -
17-41244000-T-A BRCA1 c.3548A>T p.Lys1183Ile Missense 10/23 -
3-10188201-A-C VHL c.344A>C p.His115Pro Missense 2/3 -
1-226016558-G-C EPHX1 c.128G>C p.Arg43Thr Missense 2/9 -
13-32906593-C-T BRCA2 c.978C>T p.Ser326Ser Synonymous 10/27 -
1-226016558-G-A EPHX1 c.128G>A p.Arg43Lys Missense 2/9 -
1-161138933-C-G PPOX c.767C>G p.Pro256Arg Missense 7/13 -
22-46615880-T-A PPARA c.680T>A p.Val227Asp Missense 6/8 -
13-32906593-C-G BRCA2 c.978C>G p.Ser326Arg Missense 10/27 -
15-76578762-G-A ETFA c.512C>T p.Thr171Ile Missense 6/12 -
7-155604726-C-T SHH c.91G>A p.Gly31Arg Missense 1/3 -
18-58039478-G-T MC4R c.105C>A p.Tyr35* Nonsense 1/1 -
4-187455426-G-A MTNR1A c.470C>T p.Ala157Val Missense 2/2 -
21-44478972-C-T CBS c.1330G>A p.Asp444Asn Missense 14/17 -
13-20763186-C-T GJB2 c.535G>A p.Asp179Asn Missense 2/2 -
13-20763186-C-A GJB2 c.535G>T p.Asp179Tyr Missense 2/2 -
13-20763186-C-G GJB2 c.535G>C p.Asp179His Missense 2/2 -
14-23900677-C-T MYH7 c.746G>A p.Arg249Gln Missense 9/40 -
12-53298582-C-A KRT8 c.184G>T p.Gly62Cys Missense 1/8 -
3-10183770-G-A VHL c.239G>A p.Ser80Asn Missense 1/3 -
3-10183808-G-A VHL c.277G>A p.Gly93Ser Missense 1/3 -
3-10183808-G-C VHL c.277G>C p.Gly93Arg Missense 1/3 -
17-7577511-A-C TP53 c.770T>G p.Leu257Arg Missense 7/11 -
17-39780481-C-T KRT17 c.281G>A p.Arg94His Missense 1/8 -
7-42005871-C-G GLI3 c.2800G>C p.Ala934Pro Missense 15/15 -
X-153171297-C-T AVPR2 c.337C>T p.Arg113Trp Missense 3/4 -
7-117120179-G-A CFTR c.31G>A p.Val11Ile Missense 1/27 -
7-117120179-G-C CFTR c.31G>C p.Val11Leu Missense 1/27 -
12-103246681-G-T PAH c.754C>A p.Arg252Arg Synonymous 7/13 -
11-88911363-C-T TYR c.242C>T p.Pro81Leu Missense 1/5 -
1-171083403-G-A FMO3 c.1084G>A p.Glu362Lys Missense 7/9 -
1-171083403-G-C FMO3 c.1084G>C p.Glu362Gln Missense 7/9 -
7-117144344-C-A CFTR c.91C>A p.Arg31Ser Missense 2/27 -
7-117144344-C-T CFTR c.91C>T p.Arg31Cys Missense 2/27 -
1-53679173-A-C CPT2 c.1883A>C p.Tyr628Ser Missense 5/5 -
12-57535266-C-A LRP1 c.300C>A p.Asp100Glu Missense 3/89 -
4-52895065-G-C SGCB c.452C>G p.Thr151Arg Missense 4/6 -
15-48737664-G-T FBN1 c.5826C>A p.Cys1942* Nonsense 48/66 -
1-156104288-A-T LMNA c.608A>T p.Glu203Val Missense 3/12 -
17-7577511-A-T TP53 c.770T>A p.Leu257Gln Missense 7/11 -
17-41226488-C-A BRCA1 c.4535G>T p.Ser1512Ile Missense 14/23 -
22-29121087-A-C CHEK2 c.599T>G p.Ile200Ser Missense 5/16 -
12-103246681-G-C PAH c.754C>G p.Arg252Gly Missense 7/13 -
12-57535266-C-T LRP1 c.300C>T p.Asp100Asp Synonymous 3/89 -
17-7578532-A-G TP53 c.398T>C p.Met133Thr Missense 5/11 -
5-149433645-T-A CSF1R c.2906A>T p.Tyr969Phe Missense 22/22 -
15-80472526-C-A FAH c.1021C>A p.Arg341Arg Synonymous 12/14 -
3-10183781-G-A VHL c.250G>A p.Val84Met Missense 1/3 -
15-48780418-A-T FBN1 c.3229T>A p.Ser1077Thr Missense 27/66 -
17-39768579-A-G KRT16 c.362T>C p.Met121Thr Missense 1/8 -
4-6303248-G-A WFS1 c.1726G>A p.Gly576Ser Missense 8/8 -
12-121175678-C-T ACADS c.511C>T p.Arg171Trp Missense 5/10 -
17-39768579-A-C KRT16 c.362T>G p.Met121Arg Missense 1/8 -
17-39768579-A-T KRT16 c.362T>A p.Met121Lys Missense 1/8 -
8-30938648-C-T WRN c.1105C>T p.Arg369* Nonsense 9/35 -
11-2187923-C-T TH c.917G>A p.Arg306His Missense 8/13 -
14-23884230-G-T MYH7 c.5533C>A p.Arg1845Arg Synonymous 37/40 -
19-15302906-G-A NOTCH3 c.544C>T p.Arg182Cys Missense 4/33 -
14-23884230-G-A MYH7 c.5533C>T p.Arg1845Trp Missense 37/40 -
X-10417535-A-G MID1 c.1877T>C p.Leu626Pro Missense 10/10 -
22-50962443-C-T SCO2 c.398G>A p.Cys133Tyr Missense 2/2 -
6-31828365-C-T NEU1 c.649G>A p.Val217Met Missense 4/6 -
12-52308229-G-A ACVRL1 c.632G>A p.Gly211Asp Missense 6/10 -
3-37053562-C-A MLH1 c.649C>A p.Arg217Ser Missense 8/19 -
3-37053550-G-T MLH1 c.637G>T p.Val213Leu Missense 8/19 -
3-10188219-A-G VHL c.362A>G p.Asp121Gly Missense 2/3 -
17-79479026-G-A ACTG1 c.266C>T p.Thr89Ile Missense 3/6 -
3-129251565-A-G RHO c.886A>G p.Lys296Glu Missense 4/5 -
3-10183797-T-C VHL c.266T>C p.Leu89Pro Missense 1/3 -
2-49190261-C-T FSHR c.1699G>A p.Asp567Asn Missense 10/10 -
17-42328574-G-A SLC4A1 c.2608C>T p.Arg870Trp Missense 19/20 -
17-42328574-G-T SLC4A1 c.2608C>A p.Arg870Arg Synonymous 19/20 -
13-32930673-C-T BRCA2 c.7544C>T p.Thr2515Ile Missense 15/27 -
3-48896530-T-C SLC25A20 c.713A>G p.Gln238Arg Missense 7/9 -
5-137206510-C-T MYOT c.170C>T p.Thr57Ile Missense 2/10 -
3-24164404-G-C THRB c.1357C>G p.Pro453Ala Missense 10/10 -
3-24164404-G-A THRB c.1357C>T p.Pro453Ser Missense 10/10 -
X-100653420-C-T GLA c.937G>A p.Asp313Asn Missense 6/7 -
X-100653420-C-A GLA c.937G>T p.Asp313Tyr Missense 6/7 -
12-5021275-C-A KCNA1 c.731C>A p.Pro244His Missense 2/2 -
12-5021275-C-T KCNA1 c.731C>T p.Pro244Leu Missense 2/2 -
13-32972884-A-G BRCA2 c.10234A>G p.Ile3412Val Missense 27/27 -
16-56904031-C-T SLC12A3 c.625C>T p.Arg209Trp Missense 5/26 -
X-153171400-C-T AVPR2 c.440C>T p.Ala147Val Missense 3/4 -
16-3304626-C-T MEFV c.442G>A p.Glu148Lys Missense 2/10 -
14-75514863-T-C MLH3 c.1496A>G p.Asn499Ser Missense 2/12 -
19-36339044-C-T NPHS1 c.1339G>A p.Glu447Lys Missense 11/29 -
4-141483471-T-A UCP1 c.685A>T p.Met229Leu Missense 5/6 -
7-117232223-C-A CFTR c.2002C>A p.Arg668Ser Missense 14/27 -
17-78086713-G-T GAA c.1927G>T p.Gly643Trp Missense 14/20 -
10-43615633-C-A RET c.2712C>A p.Ser904Ser Synonymous 15/20 -
10-43615633-C-G RET c.2712C>G p.Ser904Ser Synonymous 15/20 -
7-95034775-G-C PON2 c.932C>G p.Ser311Cys Missense 9/9 -
1-24122673-C-T GALE c.956G>A p.Gly319Glu Missense 11/12 -
1-171251197-T-C FMO1 c.908T>C p.Ile303Thr Missense 7/9 -
7-94054519-G-A COL1A2 c.2764G>A p.Gly922Ser Missense 42/52 -
18-13884757-T-C MC2R c.761A>G p.Tyr254Cys Missense 2/2 -
1-97981395-T-C DPYD c.1627A>G p.Ile543Val Missense 13/23 -
2-202074098-G-A CASP10 c.1228G>A p.Val410Ile Missense 9/10 -
12-103237547-G-C PAH c.1076C>G p.Ser359* Nonsense 11/13 -
3-10183823-T-C VHL c.292T>C p.Tyr98His Missense 1/3 -
12-103234271-G-A PAH c.1222C>T p.Arg408Trp Missense 12/13 -
15-51534995-A-G CYP19A1 c.115T>C p.Trp39Arg Missense 2/10 -
1-169519112-C-T F5 c.1538G>A p.Arg513Lys Missense 10/25 -
6-36651971-C-T CDKN1A c.93C>T p.Ser31Ser Synonymous 3/4 -
6-36651971-C-A CDKN1A c.93C>A p.Ser31Arg Missense 3/4 -
X-55047554-T-A ALAS2 c.569A>T p.Asp190Val Missense 5/11 -
6-132172368-A-G ENPP1 c.517A>G p.Lys173Glu Missense 4/25 -
12-52309898-T-G ACVRL1 c.1127T>G p.Met376Arg Missense 8/10 -
14-37132368-A-G PAX9 c.271A>G p.Lys91Glu Missense 3/5 -
1-227076678-A-T PSEN2 c.715A>T p.Met239Leu Missense 8/13 -
11-17419279-C-T ABCC8 c.3819G>A p.Arg1273Arg Synonymous 31/39 -
17-39768558-A-G KRT16 c.383T>C p.Leu128Pro Missense 1/8 -
3-10191506-C-G VHL c.499C>G p.Arg167Gly Missense 3/3 -
12-58158293-C-G CYP27B1 c.1004G>C p.Arg335Pro Missense 6/9 -
1-227076678-A-C PSEN2 c.715A>C p.Met239Leu Missense 8/13 -
18-58039350-G-A MC4R c.233C>T p.Pro78Leu Missense 1/1 -
8-143994041-C-T CYP11B2 c.1303G>A p.Gly435Ser Missense 8/9 -
13-20763671-G-C GJB2 c.50C>G p.Ser17Cys Missense 2/2 -
13-20763671-G-A GJB2 c.50C>T p.Ser17Phe Missense 2/2 -
10-96534922-G-A CYP2C19 c.276G>A p.Glu92Glu Synonymous 2/9 -
10-96534922-G-C CYP2C19 c.276G>C p.Glu92Asp Missense 2/9 -
21-38309098-A-C HLCS c.647T>G p.Leu216Arg Missense 5/12 -
10-131557525-A-G MGMT c.427A>G p.Ile143Val Missense 5/5 -
4-1807891-G-T FGFR3 c.1950G>T p.Lys650Asn Missense 14/18 -
4-1807891-G-C FGFR3 c.1950G>C p.Lys650Asn Missense 14/18 -
7-117180336-C-G CFTR c.1052C>G p.Thr351Ser Missense 8/27 -
2-227915847-C-T COL4A4 c.2996G>A p.Gly999Glu Missense 33/48 -
17-28576076-T-C BLMH c.1327A>G p.Ile443Val Missense 12/12 -
16-56913065-T-C SLC12A3 c.1261T>C p.Cys421Arg Missense 10/26 -
3-37053562-C-T MLH1 c.649C>T p.Arg217Cys Missense 8/19 -
3-37053568-A-C MLH1 c.655A>C p.Ile219Leu Missense 8/19 -
3-37053568-A-T MLH1 c.655A>T p.Ile219Phe Missense 8/19 -
1-207782856-A-G CR1 c.4768A>G p.Lys1590Glu Missense 29/39 -
6-160663420-T-G SLC22A2 c.1294A>C p.Lys432Gln Missense 8/11 -
15-48782093-C-G FBN1 c.3037G>C p.Gly1013Arg Missense 25/66 -
15-48782093-C-T FBN1 c.3037G>A p.Gly1013Arg Missense 25/66 -
15-48757777-G-A FBN1 c.4930C>T p.Arg1644* Nonsense 40/66 -
2-48027755-T-G MSH6 c.2633T>G p.Val878Gly Missense 4/10 -
2-48027755-T-C MSH6 c.2633T>C p.Val878Ala Missense 4/10 -
15-48757777-G-T FBN1 c.4930C>A p.Arg1644Arg Synonymous 40/66 -
1-94490595-G-T ABCA4 c.4549C>A p.Arg1517Ser Missense 31/50 -
17-7918017-G-C GUCY2D c.2511G>C p.Glu837Asp Missense 13/20 -
1-98165091-T-C DPYD c.496A>G p.Met166Val Missense 6/23 -
1-94490595-G-A ABCA4 c.4549C>T p.Arg1517Cys Missense 31/50 -
19-46178043-G-T GIPR c.592G>T p.Gly198Cys Missense 7/14 -
1-227076678-A-G PSEN2 c.715A>G p.Met239Val Missense 8/13 -
4-111543456-A-T PITX2 c.161T>A p.Leu54Gln Missense 1/3 -
X-153588567-G-A FLNA c.3596C>T p.Ser1199Leu Missense 22/48 -
17-39780499-A-G KRT17 c.263T>C p.Met88Thr Missense 1/8 -
17-39780499-A-T KRT17 c.263T>A p.Met88Lys Missense 1/8 -
5-147480027-G-A SPINK5 c.1103G>A p.Ser368Asn Missense 13/34 -
X-100653522-G-C GLA c.835C>G p.Gln279Glu Missense 6/7 -
20-3063745-A-G AVP c.200T>C p.Val67Ala Missense 2/3 -
1-201047062-G-A CACNA1S c.1564C>T p.Leu522Leu Synonymous 11/44 -
5-1411412-T-C SLC6A3 c.1215A>G p.Ser405Ser Synonymous 9/15 -
2-220439916-G-A INHA c.769G>A p.Ala257Thr Missense 2/2 -
X-153993747-T-C DKC1 c.113T>C p.Ile38Thr Missense 3/15 -
13-32953549-G-A BRCA2 c.8850G>A p.Lys2950Lys Synonymous 22/27 -
7-44104896-C-G PGAM2 c.233G>C p.Trp78Ser Missense 1/3 -
X-100653378-G-A GLA c.979C>T p.Gln327* Nonsense 6/7 -
1-183532437-G-A NCF2 c.1183C>T p.Arg395Trp Missense 13/15 -
2-176959373-C-A HOXD13 c.947C>A p.Ser316Tyr Missense 2/2 -
2-176959373-C-G HOXD13 c.947C>G p.Ser316Cys Missense 2/2 -
10-72358173-G-A PRF1 c.1304C>T p.Thr435Met Missense 3/3 -
12-121175742-C-T ACADS c.575C>T p.Ala192Val Missense 5/10 -
X-100653467-G-C GLA c.890C>G p.Ser297Cys Missense 6/7 -
4-68606334-T-C GNRHR c.851A>G p.Tyr284Cys Missense 3/3 -
3-10183752-T-A VHL c.221T>A p.Val74Asp Missense 1/3 -
19-45322744-A-G BCAM c.1615A>G p.Thr539Ala Missense 12/15 -
13-32953549-G-T BRCA2 c.8850G>T p.Lys2950Asn Missense 22/27 -
7-44104896-C-T PGAM2 c.233G>A p.Trp78* Nonsense 1/3 -
1-53675866-G-T CPT2 c.520G>T p.Glu174* Nonsense 4/5 -
13-32953550-G-T BRCA2 c.8851G>T p.Ala2951Ser Missense 22/27 -
17-41246031-CT-CA BRCA1 c.1516_1517delAGinsCA p.Arg506Gln Missense 10/23 -
X-153296860-G-T MECP2 c.419C>A p.Ala140Glu Missense 4/4 -
8-30915997-C-T WRN c.34C>T p.Gln12* Nonsense 2/35 -
1-226026406-A-T EPHX1 c.416A>T p.His139Leu Missense 4/9 -
1-101196787-G-C VCAM1 c.1238G>C p.Gly413Ala Missense 6/9 -
9-21971108-C-T CDKN2A c.250G>A p.Asp84Asn Missense 2/3 -
1-171607843-G-C MYOC c.624C>G p.Asp208Glu Missense 2/3 -
1-171607843-G-A MYOC c.624C>T p.Asp208Asp Synonymous 2/3 -
17-79767715-G-A GCGR c.118G>A p.Gly40Ser Missense 3/14 -
2-241817516-A-G AGXT c.1020A>G p.Ile340Met Missense 10/11 -
12-6457062-T-A SCNN1A c.1987A>T p.Thr663Ser Missense 13/13 -
12-6457062-T-G SCNN1A c.1987A>C p.Thr663Pro Missense 13/13 -
7-117232223-C-T CFTR c.2002C>T p.Arg668Cys Missense 14/27 -
16-3304739-A-G MEFV c.329T>C p.Leu110Pro Missense 2/10 -
13-33628193-G-C KL c.1109G>C p.Cys370Ser Missense 2/5 -
17-7577559-G-T TP53 c.722C>A p.Ser241Tyr Missense 7/11 -
12-6457062-T-C SCNN1A c.1987A>G p.Thr663Ala Missense 13/13 -
11-27680107-G-T BDNF c.5C>A p.Thr2Asn Missense 1/1 -
1-171154959-A-G FMO2 c.107A>G p.Asp36Gly Missense 2/9 -
12-58159802-C-T CYP27B1 c.374G>A p.Gly125Glu Missense 2/9 -
17-7577559-G-C TP53 c.722C>G p.Ser241Cys Missense 7/11 -
3-10183752-T-G VHL c.221T>G p.Val74Gly Missense 1/3 -
6-137527299-G-T IFNGR1 c.347C>A p.Ser116* Nonsense 3/7 -
X-153588601-C-T FLNA c.3562G>A p.Ala1188Thr Missense 22/48 -
16-30913528-G-A CTF1 c.274G>A p.Ala92Thr Missense 3/3 -
3-10183752-T-C VHL c.221T>C p.Val74Ala Missense 1/3 -
2-47656972-C-G MSH2 c.1168C>G p.Leu390Val Missense 7/16 -
17-41055964-C-T G6PC c.247C>T p.Arg83Cys Missense 2/5 -
2-47656972-C-T MSH2 c.1168C>T p.Leu390Phe Missense 7/16 -
4-6303618-C-T WFS1 c.2096C>T p.Thr699Met Missense 8/8 -
11-66619415-C-T PC c.1828G>A p.Ala610Thr Missense 16/23 -
X-54482666-C-T FGD1 c.1829G>A p.Arg610Gln Missense 10/18 -
10-43606856-G-A RET c.1465G>A p.Asp489Asn Missense 7/20 -
16-2156600-G-A PKD1 c.7288C>T p.Arg2430* Nonsense 18/46 -
2-169847329-T-C ABCB11 c.890A>G p.Glu297Gly Missense 9/28 -
3-10188264-T-C VHL c.407T>C p.Phe136Ser Missense 2/3 -
3-10188264-T-G VHL c.407T>G p.Phe136Cys Missense 2/3 -
22-42524817-C-T CYP2D6 c.635G>A p.Gly212Glu Missense 4/9 -
16-67470004-G-A HSD11B2 c.623G>A p.Arg208His Missense 3/5 -
17-42328621-G-T SLC4A1 c.2561C>A p.Pro854Gln Missense 19/20 -
16-89815152-G-A FANCA c.3263C>T p.Ser1088Phe Missense 33/43 -
13-78477665-G-A EDNRB c.561C>T p.Ile187Ile Synonymous 3/8 -
4-111542459-C-T PITX2 c.272G>A p.Arg91Gln Missense 2/3 -
4-111542459-C-G PITX2 c.272G>C p.Arg91Pro Missense 2/3 -
8-18080116-G-A NAT1 c.560G>A p.Arg187Gln Missense 3/3 -
3-10191497-C-G VHL c.490C>G p.Gln164Glu Missense 3/3 -
X-100653777-T-G GLA c.797A>C p.Asp266Ala Missense 5/7 -
13-52532509-C-G ATP7B c.2293G>C p.Asp765His Missense 8/21 -
8-27373865-G-A EPHX2 c.860G>A p.Arg287Gln Missense 8/19 -
22-42525811-T-C CYP2D6 c.281A>G p.His94Arg Missense 2/9 -
7-150648703-A-T KCNH2 c.1778T>A p.Ile593Lys Missense 7/15 -
7-75615277-G-A POR c.1706G>A p.Cys569Tyr Missense 14/16 -
19-5831840-C-T FUT6 c.739G>A p.Glu247Lys Missense 3/3 -
X-53459058-G-C HSD17B10 c.364C>G p.Leu122Val Missense 4/6 -
X-153762634-G-A G6PD c.653C>T p.Ser218Phe Missense 6/13 -
17-7577094-G-C TP53 c.844C>G p.Arg282Gly Missense 8/11 -
20-43255220-T-C ADA c.239A>G p.Lys80Arg Missense 4/12 -
4-55593685-T-G KIT c.1751T>G p.Phe584Cys Missense 11/21 -
18-55247336-C-A FECH c.163G>T p.Gly55Cys Missense 2/11 -
20-33530409-G-A GSS c.373C>T p.Arg125Cys Missense 5/13 -
3-10191497-C-T VHL c.490C>T p.Gln164* Nonsense 3/3 -
X-100653777-T-A GLA c.797A>T p.Asp266Val Missense 5/7 -
6-26091269-G-C HFE c.277G>C p.Gly93Arg Missense 2/6 -
13-108863609-G-C LIG4 c.8C>G p.Ala3Gly Missense 2/2 -
1-94564483-C-T ABCA4 c.635G>A p.Arg212His Missense 6/50 -
13-32893271-A-G BRCA2 c.125A>G p.Tyr42Cys Missense 3/27 -
18-58039291-C-T MC4R c.292G>A p.Gly98Arg Missense 1/1 -
17-7578479-G-A TP53 c.451C>T p.Pro151Ser Missense 5/11 -
17-7578479-G-C TP53 c.451C>G p.Pro151Ala Missense 5/11 -
16-27373964-T-C IL4R c.1291T>C p.Cys431Arg Missense 11/11 -
17-78086713-G-A GAA c.1927G>A p.Gly643Arg Missense 14/20 -
7-117250664-T-C CFTR c.3080T>C p.Ile1027Thr Missense 19/27 -
19-41349750-C-A CYP2A6 c.1436G>T p.Gly479Val Missense 9/9 -
1-25717308-G-C RHCE c.733C>G p.Leu245Val Missense 5/10 -
1-25717308-G-A RHCE c.733C>T p.Leu245Leu Synonymous 5/10 -
14-75514420-G-A MLH3 c.1939C>T p.Arg647Cys Missense 2/12 -
X-153170995-G-A AVPR2 c.35G>A p.Gly12Glu Missense 3/4 -
1-94506901-C-A ABCA4 c.3386G>T p.Arg1129Leu Missense 23/50 -
4-1806153-C-T FGFR3 c.1172C>T p.Ala391Val Missense 9/18 -
5-7885907-C-T MTRR c.997C>T p.Leu333Phe Missense 7/15 -
17-7577548-C-G TP53 c.733G>C p.Gly245Arg Missense 7/11 -
17-42988676-A-G GFAP c.1055T>C p.Leu352Pro Missense 6/9 -
7-99358498-G-A CYP3A4 c.1357C>T p.Leu453Phe Missense 12/13 -
1-242042364-A-C EXO1 c.1828A>C p.Ser610Arg Missense 11/14 -
1-94506901-C-T ABCA4 c.3386G>A p.Arg1129His Missense 23/50 -
15-48733923-C-A FBN1 c.6158G>T p.Cys2053Phe Missense 50/66 -
15-48733923-C-T FBN1 c.6158G>A p.Cys2053Tyr Missense 50/66 -
4-1806153-C-A FGFR3 c.1172C>A p.Ala391Glu Missense 9/18 -
8-18080115-C-T NAT1 c.559C>T p.Arg187* Nonsense 3/3 -
5-7885907-C-G MTRR c.997C>G p.Leu333Val Missense 7/15 -
1-156084878-G-C LMNA c.169G>C p.Ala57Pro Missense 1/12 -
1-156084878-G-A LMNA c.169G>A p.Ala57Thr Missense 1/12 -
12-52309891-C-T ACVRL1 c.1120C>T p.Arg374Trp Missense 8/10 -
1-156084963-T-A LMNA c.254T>A p.Leu85His Missense 1/12 -
7-99358498-G-T CYP3A4 c.1357C>A p.Leu453Ile Missense 12/13 -
1-35250464-T-C GJB3 c.101T>C p.Leu34Pro Missense 2/2 -
22-51064039-G-C ARSA c.1178C>G p.Thr393Ser Missense 7/8 -
1-183532437-G-C NCF2 c.1183C>G p.Arg395Gly Missense 13/15 -
X-113965735-G-T HTR2C c.68G>T p.Cys23Phe Missense 4/6 -
13-33628193-G-T KL c.1109G>T p.Cys370Phe Missense 2/5 -
17-7123506-G-A ACADVL c.128G>A p.Gly43Asp Missense 2/20 -
14-37132173-C-T PAX9 c.76C>T p.Arg26Trp Missense 3/5 -
1-25627552-C-G RHD c.602C>G p.Thr201Arg Missense 4/10 -
17-41223048-A-G BRCA1 c.4883T>C p.Met1628Thr Missense 15/23 -
19-49253814-A-C FUT1 c.725T>G p.Leu242Arg Missense 4/4 -
3-48609451-C-T COL7A1 c.7051G>A p.Gly2351Arg Missense 91/118 -
13-110435231-C-G IRS2 c.3170G>C p.Gly1057Ala Missense 1/2 -
12-121177159-C-T ACADS c.1147C>T p.Arg383Cys Missense 10/10 -
X-153588687-T-G FLNA c.3476A>C p.Asp1159Ala Missense 22/48 -
3-57232305-G-A HESX1 c.478C>T p.Arg160Cys Missense 4/4 -
12-6127833-T-C VWF c.4751A>G p.Tyr1584Cys Missense 28/52 -
11-108122700-T-C ATM c.1744T>C p.Phe582Leu Missense 11/63 -
8-143956428-C-T CYP11B1 c.1343G>A p.Arg448His Missense 8/9 -
3-38648200-C-T SCN5A c.1100G>A p.Arg367His Missense 9/28 -
3-37092025-C-T MLH1 c.2152C>T p.His718Tyr Missense 19/19 -
17-7578406-C-A TP53 c.524G>T p.Arg175Leu Missense 5/11 -
X-113961355-C-G HTR2C c.10C>G p.Leu4Val Missense 3/6 -
17-41222975-C-T BRCA1 c.4956G>A p.Met1652Ile Missense 15/23 -
14-37132159-T-C PAX9 c.62T>C p.Leu21Pro Missense 3/5 -
16-3299586-G-T MEFV c.1105C>A p.Pro369Thr Missense 3/10 -
13-78492540-C-T EDNRB c.169G>A p.Gly57Ser Missense 2/8 -
17-7577538-C-G TP53 c.743G>C p.Arg248Pro Missense 7/11 -
8-143996516-G-T CYP11B2 c.541C>A p.Arg181Arg Synonymous 3/9 -
3-10183811-G-A VHL c.280G>A p.Glu94Lys Missense 1/3 -
7-117282582-G-T CFTR c.3808G>T p.Asp1270Tyr Missense 23/27 -
14-88450770-G-A GALC c.550C>T p.Arg184Cys Missense 5/17 -
16-75513118-G-T CHST6 c.609C>A p.Asp203Glu Missense 3/3 -
2-75116527-G-A HK2 c.2531G>A p.Arg844Lys Missense 17/18 -
21-27264107-G-A APP c.2138C>T p.Ala713Val Missense 17/18 -
14-23897792-C-T MYH7 c.1495G>A p.Glu499Lys Missense 15/40 -
8-143996516-G-A CYP11B2 c.541C>T p.Arg181Trp Missense 3/9 -
11-111958677-A-G SDHD c.149A>G p.His50Arg Missense 2/4 -
19-18893939-G-A COMP c.2152C>T p.Arg718Trp Missense 18/19 -
19-18893939-G-T COMP c.2152C>A p.Arg718Arg Synonymous 18/19 -
17-79478104-G-A ACTG1 c.833C>T p.Thr278Ile Missense 5/6 -
22-42526670-C-T CYP2D6 c.124G>A p.Gly42Arg Missense 1/9 -
22-42525772-G-T CYP2D6 c.320C>A p.Thr107Asn Missense 2/9 -
17-39780488-T-C KRT17 c.274A>G p.Asn92Asp Missense 1/8 -
17-39780488-T-G KRT17 c.274A>C p.Asn92His Missense 1/8 -
2-190719179-T-C PMS1 c.1181T>C p.Met394Thr Missense 9/13 -
17-41055965-G-A G6PC c.248G>A p.Arg83His Missense 2/5 -
16-3299468-C-T MEFV c.1223G>A p.Arg408Gln Missense 3/10 -
20-10394008-C-T MKKS c.155G>A p.Gly52Asp Missense 3/6 -
8-143996539-T-C CYP11B2 c.518A>G p.Lys173Arg Missense 3/9 -
10-72358443-G-T PRF1 c.1034C>A p.Pro345His Missense 3/3 -
13-78475230-C-T EDNRB c.914G>A p.Ser305Asn Missense 5/8 -
4-6303668-G-C WFS1 c.2146G>C p.Ala716Pro Missense 8/8 -
15-48780418-A-G FBN1 c.3229T>C p.Ser1077Pro Missense 27/66 -
X-46713161-G-T RP2 c.353G>T p.Arg118Leu Missense 2/5 -
22-42526763-C-T CYP2D6 c.31G>A p.Val11Met Missense 1/9 -
1-101196787-G-A VCAM1 c.1238G>A p.Gly413Asp Missense 6/9 -
10-72358443-G-A PRF1 c.1034C>T p.Pro345Leu Missense 3/3 -
19-38937350-G-A RYR1 c.742G>A p.Gly248Arg Missense 9/106 -
22-46615880-T-C PPARA c.680T>C p.Val227Ala Missense 6/8 -
17-7127184-G-A ACADVL c.1322G>A p.Gly441Asp Missense 13/20 -
17-7127184-G-C ACADVL c.1322G>C p.Gly441Ala Missense 13/20 -
11-36597018-G-A RAG1 c.2164G>A p.Glu722Lys Missense 2/2 -
1-25628043-T-G RHD c.667T>G p.Phe223Val Missense 5/10 -
3-10191488-C-G VHL c.481C>G p.Arg161Gly Missense 3/3 -
3-10191488-C-T VHL c.481C>T p.Arg161* Nonsense 3/3 -
X-46713161-G-A RP2 c.353G>A p.Arg118His Missense 2/5 -
X-46719498-C-T RP2 c.844C>T p.Arg282Trp Missense 3/5 -
16-27373872-A-C IL4R c.1199A>C p.Glu400Ala Missense 11/11 -
15-48797335-T-C FBN1 c.1847A>G p.Glu616Gly Missense 16/66 -
12-58159856-C-T CYP27B1 c.320G>A p.Arg107His Missense 2/9 -
1-171083242-A-G FMO3 c.923A>G p.Glu308Gly Missense 7/9 -
17-39742731-A-G KRT14 c.356T>C p.Met119Thr Missense 1/8 -
13-32945172-A-C BRCA2 c.8567A>C p.Glu2856Ala Missense 20/27 -
11-61724901-T-A BEST1 c.679T>A p.Tyr227Asn Missense 6/11 -
9-21971108-C-A CDKN2A c.250G>T p.Asp84Tyr Missense 2/3 -
12-103237454-T-C PAH c.1169A>G p.Glu390Gly Missense 11/13 -
15-48779634-T-C FBN1 c.3338A>G p.Asp1113Gly Missense 28/66 -
11-61723195-T-C BEST1 c.253T>C p.Tyr85His Missense 4/11 -
14-80669580-T-C DIO2 c.274A>G p.Thr92Ala Missense 4/4 -
1-160105635-T-C ATP1A2 c.2291T>C p.Leu764Pro Missense 17/23 -
7-150647304-G-C KCNH2 c.2350C>G p.Arg784Gly Missense 9/15 -
7-150647304-G-A KCNH2 c.2350C>T p.Arg784Trp Missense 9/15 -
9-34649442-A-G GALT c.940A>G p.Asn314Asp Missense 10/11 -
X-153296860-G-A MECP2 c.419C>T p.Ala140Val Missense 4/4 -
9-136302063-C-T ADAMTS13 c.1423C>T p.Pro475Ser Missense 12/29 -
3-10188251-C-T VHL c.394C>T p.Gln132* Nonsense 2/3 -
17-4720469-C-T PLD2 c.1730C>T p.Thr577Ile Missense 17/25 -
7-113518498-C-A PPP1R3A c.2649G>T p.Arg883Ser Missense 4/4 -
13-20763642-C-T GJB2 c.79G>A p.Val27Ile Missense 2/2 -
3-10191493-C-G VHL c.486C>G p.Cys162Trp Missense 3/3 -
3-10191493-C-A VHL c.486C>A p.Cys162* Nonsense 3/3 -
9-98211572-T-A PTCH1 c.3583A>T p.Thr1195Ser Missense 22/24 -
19-38991294-C-T RYR1 c.7372C>T p.Arg2458Cys Missense 46/106 -
11-17436865-G-A ABCC8 c.2277C>T p.Thr759Thr Synonymous 18/39 -
12-103246666-C-T PAH c.769G>A p.Gly257Ser Missense 7/13 -
15-48729567-A-G FBN1 c.6331T>C p.Cys2111Arg Missense 52/66 -
22-32487700-G-A SLC5A1 c.1231G>A p.Ala411Thr Missense 11/15 -
3-10183811-G-T VHL c.280G>T p.Glu94* Nonsense 1/3 -
18-58039300-C-T MC4R c.283G>A p.Val95Ile Missense 1/1 -
11-61726991-C-G BEST1 c.889C>G p.Pro297Ala Missense 8/11 -
18-58039300-C-A MC4R c.283G>T p.Val95Phe Missense 1/1 -
11-61726991-C-T BEST1 c.889C>T p.Pro297Ser Missense 8/11 -
X-43817891-T-C NDP c.1A>G p.Met1Val Missense 2/3 -
1-201022667-G-C CACNA1S c.3715C>G p.Arg1239Gly Missense 30/44 -
1-201022667-G-A CACNA1S c.3715C>T p.Arg1239Cys Missense 30/44 -
11-17436865-G-T ABCC8 c.2277C>A p.Thr759Thr Synonymous 18/39 -
18-21115443-T-C NPC1 c.3467A>G p.Asn1156Ser Missense 22/25 -
6-160664685-G-T SLC22A2 c.1198C>A p.Arg400Ser Missense 7/11 -
11-88911122-A-G TYR c.1A>G p.Met1Val Missense 1/5 -
15-48734013-A-G FBN1 c.6068T>C p.Ile2023Thr Missense 50/66 -
12-103260410-C-G PAH c.473G>C p.Arg158Pro Missense 5/13 -
16-2120572-G-A TSC2 c.1832G>A p.Arg611Gln Missense 17/42 -
3-46414696-T-A CCR5 c.303T>A p.Cys101* Nonsense 3/3 -
4-6304118-G-T WFS1 c.2596G>T p.Asp866Tyr Missense 8/8 -
12-103249039-A-G PAH c.581T>C p.Leu194Pro Missense 6/13 -
18-58038852-G-A MC4R c.731C>T p.Ala244Val Missense 1/1 -
18-58038852-G-C MC4R c.731C>G p.Ala244Gly Missense 1/1 -
12-5021268-G-C KCNA1 c.724G>C p.Ala242Pro Missense 2/2 -
10-89468953-G-A PAPSS2 c.28G>A p.Glu10Lys Missense 2/13 -
10-89468953-G-T PAPSS2 c.28G>T p.Glu10* Nonsense 2/13 -
12-103260410-C-T PAH c.473G>A p.Arg158Gln Missense 5/13 -
17-39780466-A-G KRT17 c.296T>C p.Leu99Pro Missense 1/8 -
6-31324895-G-A HLA-B c.41C>T p.Ser14Leu Missense 1/8 -
18-58038633-A-G MC4R c.950T>C p.Ile317Thr Missense 1/1 -
4-6304118-G-A WFS1 c.2596G>A p.Asp866Asn Missense 8/8 -
8-6728298-C-A DEFB1 c.112G>T p.Val38Phe Missense 2/2 -
8-6728298-C-G DEFB1 c.112G>C p.Val38Leu Missense 2/2 -
11-1782594-G-A CTSD c.173C>T p.Ala58Val Missense 2/9 -
14-24839083-G-C NFATC4 c.479G>C p.Gly160Ala Missense 2/10 -
4-15826558-C-A CD38 c.418C>A p.Arg140Arg Synonymous 3/8 -
3-10191581-C-T VHL c.574C>T p.Pro192Ser Missense 3/3 -
4-15826558-C-T CD38 c.418C>T p.Arg140Trp Missense 3/8 -
18-58039473-T-A MC4R c.110A>T p.Asp37Val Missense 1/1 -
X-153761205-C-A G6PD c.1093G>T p.Ala365Ser Missense 9/13 -
2-47637246-A-T MSH2 c.380A>T p.Asn127Ile Missense 3/16 -
2-47637246-A-G MSH2 c.380A>G p.Asn127Ser Missense 3/16 -
2-47637246-A-C MSH2 c.380A>C p.Asn127Thr Missense 3/16 -
11-6291120-G-A CCKBR c.373G>A p.Val125Ile Missense 2/5 -
X-153761205-C-T G6PD c.1093G>A p.Ala365Thr Missense 9/13 -
22-42525035-C-A CYP2D6 c.505G>T p.Gly169* Nonsense 3/9 -
22-42525035-C-T CYP2D6 c.505G>A p.Gly169Arg Missense 3/9 -
1-160106455-T-C ATP1A2 c.2659T>C p.Trp887Arg Missense 19/23 -
4-6302889-G-A WFS1 c.1367G>A p.Arg456His Missense 8/8 -
7-154862652-C-T HTR5A c.43C>T p.Pro15Ser Missense 1/2 -
12-14993882-G-A ART4 c.350C>T p.Thr117Ile Missense 2/3 -
12-14993882-G-T ART4 c.350C>A p.Thr117Asn Missense 2/3 -
1-201029943-C-A CACNA1S c.3257G>T p.Arg1086Leu Missense 26/44 -
1-161138933-C-T PPOX c.767C>T p.Pro256Leu Missense 7/13 -
1-201029943-C-T CACNA1S c.3257G>A p.Arg1086His Missense 26/44 -
6-160664685-G-A SLC22A2 c.1198C>T p.Arg400Cys Missense 7/11 -
1-43804305-G-C MPL c.305G>C p.Arg102Pro Missense 3/12 -
15-73029268-A-T BBS4 c.1414A>T p.Met472Leu Missense 15/16 -
15-73029268-A-G BBS4 c.1414A>G p.Met472Val Missense 15/16 -
3-10183797-T-A VHL c.266T>A p.Leu89His Missense 1/3 -
3-10183868-C-A VHL c.337C>A p.Arg113Arg Synonymous 1/3 -
2-71797430-G-T DYSF c.2997G>T p.Trp999Cys Missense 28/55 -
7-127894640-G-T LEP c.328G>T p.Val110Leu Missense 3/3 -
7-127894640-G-A LEP c.328G>A p.Val110Met Missense 3/3 -
18-58039090-G-T MC4R c.493C>A p.Arg165Arg Synonymous 1/1 -
15-28202743-G-A OCA2 c.1775C>T p.Thr592Ile Missense 16/24 -
7-117230411-G-C CFTR c.1684G>C p.Val562Leu Missense 13/27 -
7-117230411-G-A CFTR c.1684G>A p.Val562Ile Missense 13/27 -
3-57232242-T-C HESX1 c.541A>G p.Thr181Ala Missense 4/4 -
16-89806477-C-A FANCA c.3859G>T p.Val1287Phe Missense 39/43 -
7-95041016-G-C PON2 c.443C>G p.Ala148Gly Missense 5/9 -
17-3402354-C-T ASPA c.914C>T p.Ala305Val Missense 6/6 -
16-89806477-C-T FANCA c.3859G>A p.Val1287Ile Missense 39/43 -
17-3844345-G-A ATP2A3 c.2020C>T p.Arg674Cys Missense 14/23 -
1-156107534-C-T LMNA c.1698C>T p.His566His Synonymous 10/12 -
13-108863591-G-A LIG4 c.26C>T p.Thr9Ile Missense 2/2 -
13-32911295-G-T BRCA2 c.2803G>T p.Asp935Tyr Missense 11/27 -
13-32911295-G-C BRCA2 c.2803G>C p.Asp935His Missense 11/27 -
7-75614973-T-A POR c.1475T>A p.Val492Glu Missense 13/16 -
17-3397702-C-T ASPA c.693C>T p.Tyr231Tyr Synonymous 5/6 -
17-3397702-C-A ASPA c.693C>A p.Tyr231* Nonsense 5/6 -
2-219525942-A-G BCS1L c.232A>G p.Ser78Gly Missense 3/9 -
19-41597751-C-T CYP2A13 c.769C>T p.Arg257Cys Missense 5/9 -
7-24324879-T-C NPY c.20T>C p.Leu7Pro Missense 2/4 -
7-24324879-T-A NPY c.20T>A p.Leu7Gln Missense 2/4 -
2-38302350-C-G CYP1B1 c.182G>C p.Gly61Ala Missense 2/3 -
7-117282582-G-A CFTR c.3808G>A p.Asp1270Asn Missense 23/27 -
12-5021221-C-G KCNA1 c.677C>G p.Thr226Arg Missense 2/2 -
X-48385644-G-A EBP c.440G>A p.Arg147His Missense 4/5 -
X-100653551-A-C GLA c.806T>G p.Val269Gly Missense 6/7 -
X-153763531-C-T G6PD c.427G>A p.Asp143Asn Missense 5/13 -
13-32906593-C-A BRCA2 c.978C>A p.Ser326Arg Missense 10/27 -
5-131911535-A-T RAD50 c.280A>T p.Ile94Leu Missense 3/25 -
5-131911535-A-C RAD50 c.280A>C p.Ile94Leu Missense 3/25 -
7-117232642-A-G CFTR c.2421A>G p.Ile807Met Missense 14/27 -
19-41349774-A-G CYP2A6 c.1412T>C p.Ile471Thr Missense 9/9 -
17-42334882-C-T SLC4A1 c.1462G>A p.Val488Met Missense 13/20 -
4-6303033-C-A WFS1 c.1511C>A p.Pro504Gln Missense 8/8 -
4-6303033-C-T WFS1 c.1511C>T p.Pro504Leu Missense 8/8 -
6-137219351-T-A PEX7 c.875T>A p.Leu292* Nonsense 9/10 -
13-52532469-C-A ATP7B c.2333G>T p.Arg778Leu Missense 8/21 -
6-160663420-T-C SLC22A2 c.1294A>G p.Lys432Glu Missense 8/11 -
15-48737627-G-A FBN1 c.5863C>T p.Gln1955* Nonsense 48/66 -
19-3595794-A-G TBXA2R c.924T>C p.Tyr308Tyr Synonymous 3/3 -
11-17418527-C-T ABCC8 c.4055G>A p.Arg1352His Missense 33/39 -
11-17418527-C-G ABCC8 c.4055G>C p.Arg1352Pro Missense 33/39 -
1-24123212-T-C GALE c.770A>G p.Lys257Arg Missense 9/12 -
2-227661043-T-C IRS1 c.2412A>G p.Ala804Ala Synonymous 1/2 -
16-223502-C-A HBA2 c.332C>A p.Ala111Asp Missense 3/3 -
16-223502-C-T HBA2 c.332C>T p.Ala111Val Missense 3/3 -
1-196716337-T-C CFH c.3590T>C p.Val1197Ala Missense 22/22 -
6-31784586-G-A HSPA1A c.1053G>A p.Gln351Gln Synonymous 1/1 -
7-6045627-C-G PMS2 c.59G>C p.Arg20Pro Missense 2/15 -
7-6045627-C-A PMS2 c.59G>T p.Arg20Leu Missense 2/15 -
7-6045627-C-T PMS2 c.59G>A p.Arg20Gln Missense 2/15 -
9-21970979-C-G CDKN2A c.379G>C p.Ala127Pro Missense 2/3 -
16-83932868-T-C MLYCD c.119T>C p.Met40Thr Missense 1/5 -
16-2328017-T-G ABCA3 c.4772A>C p.Gln1591Pro Missense 31/33 -
13-52532469-C-T ATP7B c.2333G>A p.Arg778Gln Missense 8/21 -
10-120353843-G-A PRLHR c.914C>T p.Pro305Leu Missense 2/2 -
6-121769078-G-A GJA1 c.1085G>A p.Arg362Gln Missense 2/2 -
11-108143456-C-A ATM c.3161C>A p.Pro1054His Missense 22/63 -
11-108143456-C-G ATM c.3161C>G p.Pro1054Arg Missense 22/63 -
3-10191569-C-G VHL c.562C>G p.Leu188Val Missense 3/3 -
11-73717247-C-T UCP3 c.304G>A p.Val102Ile Missense 3/7 -
22-51063820-G-A ARSA c.1283C>T p.Pro428Leu Missense 8/8 -
18-3457439-A-G TGIF1 c.707A>G p.Gln236Arg Missense 3/3 -
9-35076755-G-A FANCG c.890C>T p.Thr297Ile Missense 7/14 -
8-143996177-A-G CYP11B2 c.743T>C p.Ile248Thr Missense 4/9 -
1-183532437-G-T NCF2 c.1183C>A p.Arg395Arg Synonymous 13/15 -
14-37132180-G-A PAX9 c.83G>A p.Arg28His Missense 3/5 -
14-23900677-C-A MYH7 c.746G>T p.Arg249Leu Missense 9/40 -
14-37132180-G-C PAX9 c.83G>C p.Arg28Pro Missense 3/5 -
6-51889617-G-A PKHD1 c.4991C>T p.Ser1664Phe Missense 32/67 -
9-104133461-T-C BAAT c.226A>G p.Met76Val Missense 2/4 -
19-45322962-A-T BCAM c.1742A>T p.Gln581Leu Missense 13/15 -
7-65554101-A-G ASL c.857A>G p.Gln286Arg Missense 12/17 -
4-6303693-C-T WFS1 c.2171C>T p.Pro724Leu Missense 8/8 -
5-112175240-G-C APC c.3949G>C p.Glu1317Gln Missense 16/16 -
12-121622304-A-G P2RX7 c.1487A>G p.Glu496Gly Missense 13/13 -
8-6728298-C-T DEFB1 c.112G>A p.Val38Ile Missense 2/2 -
14-73673178-A-G PSEN1 c.953A>G p.Glu318Gly Missense 9/12 -
17-15134248-G-A PMP22 c.469C>T p.Arg157Trp Missense 5/5 -
17-15134248-G-T PMP22 c.469C>A p.Arg157Arg Synonymous 5/5 -
2-190719499-G-A PMS1 c.1501G>A p.Gly501Arg Missense 9/13 -
10-96827030-C-A CYP2C8 c.416G>T p.Arg139Met Missense 3/9 -
X-30322790-T-C NR0B1 c.1319A>G p.Asn440Ser Missense 2/2 -
X-30322790-T-A NR0B1 c.1319A>T p.Asn440Ile Missense 2/2 -
12-103234252-T-C PAH c.1241A>G p.Tyr414Cys Missense 12/13 -
22-51064699-T-G ARSA c.862A>C p.Thr288Pro Missense 5/8 -
12-10313448-C-G OLR1 c.501G>C p.Lys167Asn Missense 4/6 -
15-48779514-C-T FBN1 c.3458G>A p.Cys1153Tyr Missense 28/66 -
3-10183808-G-T VHL c.277G>T p.Gly93Cys Missense 1/3 -
10-96535246-G-C CYP2C19 c.431G>C p.Arg144Pro Missense 3/9 -
10-96535246-G-A CYP2C19 c.431G>A p.Arg144His Missense 3/9 -
X-54496615-G-A FGD1 c.935C>T p.Pro312Leu Missense 4/18 -
14-23898488-G-A MYH7 c.1207C>T p.Arg403Trp Missense 13/40 -
14-23898488-G-C MYH7 c.1207C>G p.Arg403Gly Missense 13/40 -
20-4705718-C-G PRND c.521C>G p.Thr174Arg Missense 2/2 -
3-129252554-C-A RHO c.1040C>A p.Pro347Gln Missense 5/5 -
20-4705718-C-T PRND c.521C>T p.Thr174Met Missense 2/2 -
7-44104896-C-A PGAM2 c.233G>T p.Trp78Leu Missense 1/3 -
11-2591882-G-A KCNQ1 c.502G>A p.Gly168Arg Missense 3/16 -
11-61723297-G-C BEST1 c.355G>C p.Glu119Gln Missense 4/11 -
X-153762655-T-A G6PD c.632A>T p.Asp211Val Missense 6/13 -
11-61723297-G-T BEST1 c.355G>T p.Glu119* Nonsense 4/11 -
1-242042364-A-G EXO1 c.1828A>G p.Ser610Gly Missense 11/14 -
3-48617744-G-A COL7A1 c.5086C>T p.Arg1696Cys Missense 55/118 -
7-107350627-G-A SLC26A4 c.2218G>A p.Gly740Ser Missense 19/21 -
1-97544627-C-A DPYD c.2983G>T p.Val995Phe Missense 23/23 -
19-5832209-G-A FUT6 c.370C>T p.Pro124Ser Missense 3/3 -
14-24839083-G-A NFATC4 c.479G>A p.Gly160Asp Missense 2/10 -
1-171168584-C-A FMO2 c.584C>A p.Ser195* Nonsense 5/9 -
X-100653783-T-A GLA c.791A>T p.Asp264Val Missense 5/7 -
7-117307076-C-G CFTR c.4357C>G p.Arg1453Gly Missense 27/27 -
11-2604765-C-A KCNQ1 c.1022C>A p.Ala341Glu Missense 7/16 -
1-119958071-C-T HSD3B2 c.29C>T p.Ala10Val Missense 2/4 -
1-119958071-C-A HSD3B2 c.29C>A p.Ala10Glu Missense 2/4 -
4-187476360-G-A MTNR1A c.160C>T p.Arg54Trp Missense 1/2 -
4-187476360-G-C MTNR1A c.160C>G p.Arg54Gly Missense 1/2 -
17-41244130-T-G BRCA1 c.3418A>C p.Ser1140Arg Missense 10/23 -
17-41244130-T-C BRCA1 c.3418A>G p.Ser1140Gly Missense 10/23 -
7-107350627-G-T SLC26A4 c.2218G>T p.Gly740Cys Missense 19/21 -
7-99367427-C-T CYP3A4 c.485G>A p.Arg162Gln Missense 6/13 -
17-7577511-A-G TP53 c.770T>C p.Leu257Pro Missense 7/11 -
3-57232504-T-C HESX1 c.374A>G p.Asn125Ser Missense 3/4 -
1-24124650-T-C GALE c.308A>G p.Asp103Gly Missense 5/12 -
1-171168584-C-G FMO2 c.584C>G p.Ser195* Nonsense 5/9 -
1-171168584-C-T FMO2 c.584C>T p.Ser195Leu Missense 5/9 -
3-10191581-C-G VHL c.574C>G p.Pro192Ala Missense 3/3 -
13-32953971-C-T BRCA2 c.9038C>T p.Thr3013Ile Missense 23/27 -
11-108098576-C-G ATM c.146C>G p.Ser49Cys Missense 3/63 -
1-94487443-C-T ABCA4 c.4732G>A p.Gly1578Arg Missense 33/50 -
11-2604765-C-T KCNQ1 c.1022C>T p.Ala341Val Missense 7/16 -
1-171083398-T-C FMO3 c.1079T>C p.Leu360Pro Missense 7/9 -
16-2152865-C-G PKD1 c.8898G>C p.Glu2966Asp Missense 24/46 -
16-2152865-C-A PKD1 c.8898G>T p.Glu2966Asp Missense 24/46 -
1-25627494-T-A RHD c.544T>A p.Ser182Thr Missense 4/10 -
6-78172750-A-G HTR1B c.371T>C p.Phe124Ser Missense 1/1 -
3-10183739-G-A VHL c.208G>A p.Glu70Lys Missense 1/3 -
22-42524817-C-G CYP2D6 c.635G>C p.Gly212Ala Missense 4/9 -
1-201022666-C-T CACNA1S c.3716G>A p.Arg1239His Missense 30/44 -
4-23814707-G-T PPARGC1A c.1835C>A p.Thr612Lys Missense 9/13 -
4-23814707-G-A PPARGC1A c.1835C>T p.Thr612Met Missense 9/13 -
14-75516289-G-C MLH3 c.70C>G p.Gln24Glu Missense 2/12 -
1-197396689-C-A CRB1 c.2234C>A p.Thr745Lys Missense 7/12 -
4-186066117-A-G SLC25A4 c.311A>G p.Asp104Gly Missense 2/4 -
1-97564154-C-T DPYD c.2657G>A p.Arg886His Missense 21/23 -
17-41258504-A-G BRCA1 c.181T>C p.Cys61Arg Missense 4/23 -
11-61727002-G-C BEST1 c.900G>C p.Glu300Asp Missense 8/11 -
3-57233870-A-G HESX1 c.77T>C p.Ile26Thr Missense 1/4 -
7-117180248-G-A CFTR c.964G>A p.Val322Met Missense 8/27 -
11-47361308-C-T MYBPC3 c.1961G>A p.Arg654His Missense 21/35 -
6-160677669-C-G SLC22A2 c.495G>C p.Met165Ile Missense 2/11 -
6-160677669-C-T SLC22A2 c.495G>A p.Met165Ile Missense 2/11 -
3-10191555-C-T VHL c.548C>T p.Ser183Leu Missense 3/3 -
7-150648703-A-C KCNH2 c.1778T>G p.Ile593Arg Missense 7/15 -
12-103246654-G-C PAH c.781C>G p.Arg261Gly Missense 7/13 -
12-103246654-G-A PAH c.781C>T p.Arg261* Nonsense 7/13 -
10-95556839-T-G LGI1 c.953T>G p.Phe318Cys Missense 8/8 -
18-3457439-A-T TGIF1 c.707A>T p.Gln236Leu Missense 3/3 -
22-18905934-A-G PRODH c.1322T>C p.Leu441Pro Missense 12/15 -
17-42328621-G-A SLC4A1 c.2561C>T p.Pro854Leu Missense 19/20 -
12-52886453-A-G KRT6A c.520T>C p.Phe174Leu Missense 1/9 -
12-52886453-A-C KRT6A c.520T>G p.Phe174Val Missense 1/9 -
17-78086721-C-A GAA c.1935C>A p.Asp645Glu Missense 14/20 -
17-78086721-C-T GAA c.1935C>T p.Asp645Asp Synonymous 14/20 -
11-108098576-C-T ATM c.146C>T p.Ser49Phe Missense 3/63 -
7-150648703-A-G KCNH2 c.1778T>C p.Ile593Thr Missense 7/15 -
11-61725631-C-T BEST1 c.728C>T p.Ala243Val Missense 7/11 -
15-48787416-G-A FBN1 c.2581C>T p.Arg861* Nonsense 22/66 -
13-52513266-T-C ATP7B c.3620A>G p.His1207Arg Missense 17/21 -
12-103245479-C-A PAH c.898G>T p.Ala300Ser Missense 8/13 -
17-39780470-A-C KRT17 c.292T>G p.Tyr98Asp Missense 1/8 -
1-24124689-C-T GALE c.269G>A p.Gly90Glu Missense 5/12 -
12-50344783-A-C AQP2 c.170A>C p.Gln57Pro Missense 1/4 -
1-171173089-G-A FMO2 c.713G>A p.Arg238Gln Missense 6/9 -
22-42525035-C-G CYP2D6 c.505G>C p.Gly169Arg Missense 3/9 -
17-41244435-T-G BRCA1 c.3113A>C p.Glu1038Ala Missense 10/23 -
5-149361221-A-G SLC26A2 c.2065A>G p.Thr689Ala Missense 3/3 -
1-171605384-C-A MYOC c.1196G>T p.Gly399Val Missense 3/3 -
5-149361221-A-T SLC26A2 c.2065A>T p.Thr689Ser Missense 3/3 -
3-361508-C-T CHL1 c.49C>T p.Leu17Phe Missense 3/28 -
7-113518434-C-A PPP1R3A c.2713G>T p.Asp905Tyr Missense 4/4 -
13-32953550-G-A BRCA2 c.8851G>A p.Ala2951Thr Missense 22/27 -
3-10191507-G-A VHL c.500G>A p.Arg167Gln Missense 3/3 -
7-65547430-C-T ASL c.283C>T p.Arg95Cys Missense 4/17 -
3-10191507-G-C VHL c.500G>C p.Arg167Pro Missense 3/3 -
3-10191507-G-T VHL c.500G>T p.Arg167Leu Missense 3/3 -
21-35742802-C-G KCNE2 c.25C>G p.Gln9Glu Missense 2/2 -
7-117250575-G-C CFTR c.2991G>C p.Leu997Phe Missense 19/27 -
18-21119787-T-G NPC1 c.2783A>C p.Gln928Pro Missense 18/25 -
10-50678722-G-A ERCC6 c.3284C>T p.Pro1095Leu Missense 18/21 -
10-50678722-G-C ERCC6 c.3284C>G p.Pro1095Arg Missense 18/21 -
16-20360316-C-A UMOD c.307G>T p.Gly103Cys Missense 3/11 -
7-154862652-C-A HTR5A c.43C>A p.Pro15Thr Missense 1/2 -
15-48756162-C-G FBN1 c.4999G>C p.Val1667Leu Missense 41/66 -
19-41354629-C-A CYP2A6 c.383G>T p.Arg128Leu Missense 3/9 -
18-58039301-G-A MC4R c.282C>T p.Ser94Ser Synonymous 1/1 -
18-58039301-G-C MC4R c.282C>G p.Ser94Arg Missense 1/1 -
16-20360316-C-T UMOD c.307G>A p.Gly103Ser Missense 3/11 -
17-41256266-T-C BRCA1 c.314A>G p.Tyr105Cys Missense 6/23 -
4-111542459-C-A PITX2 c.272G>T p.Arg91Leu Missense 2/3 -
10-117849353-T-C GFRA1 c.1081A>G p.Thr361Ala Missense 7/9 -
19-41354629-C-G CYP2A6 c.383G>C p.Arg128Pro Missense 3/9 -
1-196716319-C-T CFH c.3572C>T p.Ser1191Leu Missense 22/22 -
21-35742802-C-T KCNE2 c.25C>T p.Gln9* Nonsense 2/2 -
11-17409199-A-G KCNJ11 c.440T>C p.Leu147Pro Missense 1/1 -
1-43805767-C-T MPL c.823C>T p.Pro275Ser Missense 5/12 -
1-43805767-C-A MPL c.823C>A p.Pro275Thr Missense 5/12 -
9-21971116-G-A CDKN2A c.242C>T p.Pro81Leu Missense 2/3 -
9-21971116-G-C CDKN2A c.242C>G p.Pro81Arg Missense 2/3 -
14-75514489-C-G MLH3 c.1870G>C p.Glu624Gln Missense 2/12 -
15-48756162-C-T FBN1 c.4999G>A p.Val1667Ile Missense 41/66 -
17-41243509-T-A BRCA1 c.4039A>T p.Arg1347* Nonsense 10/23 -
7-75614497-G-C POR c.1370G>C p.Arg457Pro Missense 12/16 -
7-75614497-G-A POR c.1370G>A p.Arg457His Missense 12/16 -
17-41243509-T-C BRCA1 c.4039A>G p.Arg1347Gly Missense 10/23 -
X-153296882-G-C MECP2 c.397C>G p.Arg133Gly Missense 4/4 -
X-30326608-C-G NR0B1 c.873G>C p.Trp291Cys Missense 1/2 -
18-55247336-C-T FECH c.163G>A p.Gly55Ser Missense 2/11 -
22-42525811-T-A CYP2D6 c.281A>T p.His94Leu Missense 2/9 -
13-32914236-C-T BRCA2 c.5744C>T p.Thr1915Met Missense 11/27 -
10-43620335-C-T RET c.2944C>T p.Arg982Cys Missense 18/20 -
21-44480590-C-G CBS c.1106G>C p.Arg369Pro Missense 12/17 -
15-48782144-A-G FBN1 c.2986T>C p.Cys996Arg Missense 25/66 -
1-94476377-C-T ABCA4 c.5693G>A p.Arg1898His Missense 40/50 -
17-41245471-C-A BRCA1 c.2077G>T p.Asp693Tyr Missense 10/23 -
2-227660781-T-C IRS1 c.2674A>G p.Ser892Gly Missense 1/2 -
17-41245471-C-T BRCA1 c.2077G>A p.Asp693Asn Missense 10/23 -
15-80472526-C-T FAH c.1021C>T p.Arg341Trp Missense 12/14 -
1-160105036-G-A ATP1A2 c.2066G>A p.Arg689Gln Missense 15/23 -
2-38298139-T-G CYP1B1 c.1358A>C p.Asn453Thr Missense 3/3 -
10-95557034-A-C LGI1 c.1148A>C p.Glu383Ala Missense 8/8 -
1-171076966-G-A FMO3 c.472G>A p.Glu158Lys Missense 4/9 -
11-61723221-G-C BEST1 c.279G>C p.Trp93Cys Missense 4/11 -
11-108170506-A-C ATM c.5071A>C p.Ser1691Arg Missense 34/63 -
1-242048680-G-A EXO1 c.2276G>A p.Gly759Glu Missense 13/14 -
13-32968940-A-G BRCA2 c.9371A>G p.Asn3124Ser Missense 25/27 -
7-99358459-G-C CYP3A4 c.1396C>G p.Pro466Ala Missense 12/13 -
10-43615094-C-T RET c.2508C>T p.Ser836Ser Synonymous 14/20 -
17-33904464-T-A PEX12 c.273A>T p.Arg91Ser Missense 2/3 -
12-14993909-C-A ART4 c.323G>T p.Gly108Val Missense 2/3 -
14-94845845-C-T SERPINA1 c.1021G>A p.Asp341Asn Missense 4/5 -
17-48245014-C-T SGCA c.229C>T p.Arg77Cys Missense 3/10 -
13-52532509-C-T ATP7B c.2293G>A p.Asp765Asn Missense 8/21 -
X-153599369-T-A FLNA c.245A>T p.Glu82Val Missense 2/48 -
9-100616366-G-A FOXE1 c.170G>A p.Ser57Asn Missense 1/1 -
18-21115647-T-C NPC1 c.3263A>G p.Tyr1088Cys Missense 22/25 -
13-20763245-T-A GJB2 c.476A>T p.Asp159Val Missense 2/2 -
3-10188210-T-G VHL c.353T>G p.Leu118Arg Missense 2/3 -
16-20360316-C-G UMOD c.307G>C p.Gly103Arg Missense 3/11 -
1-156084963-T-G LMNA c.254T>G p.Leu85Arg Missense 1/12 -
X-153595873-C-T FLNA c.760G>A p.Glu254Lys Missense 5/48 -
7-142651354-G-A KEL c.841C>T p.Arg281Trp Missense 8/19 -
10-81372081-A-G SFTPA1 c.186A>G p.Pro62Pro Synonymous 4/6 -
9-131110892-G-A SLC27A4 c.625G>A p.Gly209Ser Missense 4/13 -
1-43804305-G-A MPL c.305G>A p.Arg102His Missense 3/12 -
13-20763573-C-A GJB2 c.148G>T p.Asp50Tyr Missense 2/2 -
13-20763573-C-T GJB2 c.148G>A p.Asp50Asn Missense 2/2 -
13-20763497-C-T GJB2 c.224G>A p.Arg75Gln Missense 2/2 -
1-94544234-T-C ABCA4 c.1268A>G p.His423Arg Missense 10/50 -
1-94544234-T-G ABCA4 c.1268A>C p.His423Pro Missense 10/50 -
13-108863609-G-A LIG4 c.8C>T p.Ala3Val Missense 2/2 -
19-41352941-A-G CYP2A6 c.670T>C p.Ser224Pro Missense 5/9 -
16-67516945-C-T AGRP c.199G>A p.Ala67Thr Missense 3/4 -
13-108863609-G-T LIG4 c.8C>A p.Ala3Asp Missense 2/2 -
11-17417206-G-A ABCC8 c.4258C>T p.Arg1420Cys Missense 35/39 -
1-43804340-G-A MPL c.340G>A p.Val114Met Missense 3/12 -
17-41246061-C-A BRCA1 c.1487G>T p.Arg496Leu Missense 10/23 -
1-35260769-C-G GJA4 c.955C>G p.Pro319Ala Missense 2/2 -
X-43809077-G-T NDP c.370C>A p.Leu124Ile Missense 3/3 -
X-43809077-G-A NDP c.370C>T p.Leu124Phe Missense 3/3 -
17-41246061-C-T BRCA1 c.1487G>A p.Arg496His Missense 10/23 -
17-54671687-C-G NOG c.103C>G p.Pro35Ala Missense 1/1 -
4-1803571-C-G FGFR3 c.749C>G p.Pro250Arg Missense 7/18 -
4-1803571-C-T FGFR3 c.749C>T p.Pro250Leu Missense 7/18 -
4-1803571-C-A FGFR3 c.749C>A p.Pro250Gln Missense 7/18 -
3-10183868-C-T VHL c.337C>T p.Arg113* Nonsense 1/3 -
4-2906707-G-A ADD1 c.1378G>A p.Gly460Arg Missense 10/15 -
17-3402294-A-C ASPA c.854A>C p.Glu285Ala Missense 6/6 -
5-73992881-A-G HEXB c.619A>G p.Ile207Val Missense 5/14 -
20-57484420-C-G GNAS c.601C>G p.Arg201Gly Missense 8/13 -
20-57484420-C-A GNAS c.601C>A p.Arg201Ser Missense 8/13 -
2-48018236-G-T MSH6 c.431G>T p.Ser144Ile Missense 2/10 -
13-48953730-C-T RB1 c.1333C>T p.Arg445* Nonsense 14/27 -
17-42338945-T-C SLC4A1 c.166A>G p.Lys56Glu Missense 4/20 -
8-27361241-C-T EPHX2 c.307C>T p.Arg103Cys Missense 3/19 -
1-169446685-C-A SLC19A2 c.515G>T p.Gly172Val Missense 2/6 -
1-169446685-C-T SLC19A2 c.515G>A p.Gly172Asp Missense 2/6 -
1-156106776-G-T LMNA c.1445G>T p.Arg482Leu Missense 8/12 -
8-57353895-C-T PENK c.740G>A p.Gly247Asp Missense 4/4 -
1-156106776-G-A LMNA c.1445G>A p.Arg482Gln Missense 8/12 -
7-80290507-T-C CD36 c.410T>C p.Val137Ala Missense 5/14 -
19-45315445-G-A BCAM c.230G>A p.Arg77His Missense 3/15 -
19-45315445-G-C BCAM c.230G>C p.Arg77Pro Missense 3/15 -
18-58039203-G-A MC4R c.380C>T p.Ser127Leu Missense 1/1 -
1-156104288-A-G LMNA c.608A>G p.Glu203Gly Missense 3/12 -
17-39780481-C-G KRT17 c.281G>C p.Arg94Pro Missense 1/8 -
16-20359974-A-G UMOD c.649T>C p.Cys217Arg Missense 3/11 -
16-20359974-A-C UMOD c.649T>G p.Cys217Gly Missense 3/11 -
1-207782889-A-G CR1 c.4801A>G p.Arg1601Gly Missense 29/39 -
7-117243828-T-C CFTR c.2900T>C p.Leu967Ser Missense 17/27 -
3-170732328-C-T SLC2A2 c.301G>A p.Val101Ile Missense 3/11 -
12-52309267-G-A ACVRL1 c.1031G>A p.Cys344Tyr Missense 7/10 -
17-7578479-G-T TP53 c.451C>A p.Pro151Thr Missense 5/11 -
17-39768558-A-T KRT16 c.383T>A p.Leu128Gln Missense 1/8 -
15-48766790-T-C FBN1 c.4022A>G p.Asn1341Ser Missense 33/66 -
11-88027331-T-C CTSC c.1235A>G p.Tyr412Cys Missense 7/7 -
7-117199643-C-G CFTR c.1518C>G p.Ile506Met Missense 11/27 -
3-37053550-G-A MLH1 c.637G>A p.Val213Met Missense 8/19 -
1-25717308-G-T RHCE c.733C>A p.Leu245Ile Missense 5/10 -
11-47359046-G-A MYBPC3 c.2498C>T p.Ala833Val Missense 25/35 -
12-110719662-G-A ATP2A2 c.68G>A p.Gly23Glu Missense 1/21 -
19-46181392-G-C GIPR c.1060G>C p.Glu354Gln Missense 12/14 -
18-58039090-G-A MC4R c.493C>T p.Arg165Trp Missense 1/1 -
14-36986976-C-A NKX2-1 c.623G>T p.Trp208Leu Missense 2/2 -
14-36986976-C-T NKX2-1 c.623G>A p.Trp208* Nonsense 2/2 -
9-34647187-C-A GALT c.184C>A p.Leu62Met Missense 2/11 -
7-99366081-A-G CYP3A4 c.566T>C p.Phe189Ser Missense 7/13 -
11-88911386-T-C TYR c.265T>C p.Cys89Arg Missense 1/5 -
16-88714511-C-T CYBA c.70G>A p.Gly24Arg Missense 2/6 -
16-3807895-T-C CREBBP c.3524A>G p.Tyr1175Cys Missense 18/31 -
10-72358722-T-C PRF1 c.755A>G p.Asn252Ser Missense 3/3 -
1-9323910-G-C H6PD c.1358G>C p.Arg453Pro Missense 5/5 -
1-9323910-G-A H6PD c.1358G>A p.Arg453Gln Missense 5/5 -
11-27680107-G-A BDNF c.5C>T p.Thr2Ile Missense 1/1 -
19-5844792-A-T FUT3 c.59T>A p.Leu20Gln Missense 3/3 -
20-4680378-A-G PRNP c.512A>G p.Asn171Ser Missense 2/2 -
19-41354629-C-T CYP2A6 c.383G>A p.Arg128Gln Missense 3/9 -
19-45316704-T-A BCAM c.611T>A p.Met204Lys Missense 6/15 -
18-58039301-G-T MC4R c.282C>A p.Ser94Arg Missense 1/1 -
11-108128319-A-C ATM c.2362A>C p.Ser788Arg Missense 15/63 -
19-5844792-A-C FUT3 c.59T>G p.Leu20Arg Missense 3/3 -
19-5844792-A-G FUT3 c.59T>C p.Leu20Pro Missense 3/3 -
1-92941647-T-C GFI1 c.1208A>G p.Lys403Arg Missense 7/7 -
3-10188200-C-T VHL c.343C>T p.His115Tyr Missense 2/3 -
18-21115443-T-A NPC1 c.3467A>T p.Asn1156Ile Missense 22/25 -
1-196695742-A-G CFH c.2016A>G p.Gln672Gln Synonymous 13/22 -
7-117251695-C-G CFTR c.3200C>G p.Ala1067Gly Missense 20/27 -
3-170732300-G-A SLC2A2 c.329C>T p.Thr110Ile Missense 3/11 -
7-117251695-C-T CFTR c.3200C>T p.Ala1067Val Missense 20/27 -
7-117251695-C-A CFTR c.3200C>A p.Ala1067Asp Missense 20/27 -
3-10183770-G-T VHL c.239G>T p.Ser80Ile Missense 1/3 -
22-37333657-C-A CSF2RB c.1807C>A p.Pro603Thr Missense 14/14 -
9-97912307-T-A FANCC c.584A>T p.Asp195Val Missense 7/15 -
21-35742799-A-G KCNE2 c.22A>G p.Thr8Ala Missense 2/2 -
21-44479037-G-A CBS c.1265C>T p.Pro422Leu Missense 14/17 -
22-42523858-T-G CYP2D6 c.971A>C p.His324Pro Missense 6/9 -
1-97981421-C-T DPYD c.1601G>A p.Ser534Asn Missense 13/23 -
12-103246666-C-A PAH c.769G>T p.Gly257Cys Missense 7/13 -
10-81373777-C-A SFTPA1 c.655C>A p.Arg219Arg Synonymous 6/6 -
10-81373777-C-T SFTPA1 c.655C>T p.Arg219Trp Missense 6/6 -
17-12915009-G-A ELAC2 c.560-1021C>T - IntronicSNV - 6/22
17-3402354-C-A ASPA c.914C>A p.Ala305Glu Missense 6/6 -
17-12915009-G-C ELAC2 c.560-1021C>G - IntronicSNV - 6/22
13-32945108-T-C BRCA2 c.8503T>C p.Ser2835Pro Missense 20/27 -
18-21118615-G-A NPC1 c.2932C>T p.Arg978Cys Missense 20/25 -
4-6303606-G-A WFS1 c.2084G>A p.Gly695Asp Missense 8/8 -
17-7577120-C-G TP53 c.818G>C p.Arg273Pro Missense 8/11 -
4-6303606-G-T WFS1 c.2084G>T p.Gly695Val Missense 8/8 -
19-5844043-C-T FUT3 c.808G>A p.Val270Met Missense 3/3 -
11-2188225-T-G TH c.733A>C p.Thr245Pro Missense 7/13 -
5-172662014-G-A NKX2-5 c.73C>T p.Arg25Cys Missense 1/2 -
8-18080001-G-A NAT1 c.445G>A p.Val149Ile Missense 3/3 -
14-23894525-C-T MYH7 c.2389G>A p.Ala797Thr Missense 21/40 -
13-33628138-T-G KL c.1054T>G p.Phe352Val Missense 2/5 -
13-33628138-T-A KL c.1054T>A p.Phe352Ile Missense 2/5 -
22-51064416-T-C ARSA c.1055A>G p.Asn352Ser Missense 6/8 -
5-7885907-C-A MTRR c.997C>A p.Leu333Ile Missense 7/15 -
7-117180336-C-T CFTR c.1052C>T p.Thr351Ile Missense 8/27 -
18-58039041-C-T MC4R c.542G>A p.Gly181Asp Missense 1/1 -
6-49580247-C-T RHAG c.808G>A p.Val270Ile Missense 6/10 -
9-97912307-T-C FANCC c.584A>G p.Asp195Gly Missense 7/15 -
19-18896846-T-C COMP c.1418A>G p.Asp473Gly Missense 13/19 -
14-23894525-C-G MYH7 c.2389G>C p.Ala797Pro Missense 21/40 -
14-23894525-C-A MYH7 c.2389G>T p.Ala797Ser Missense 21/40 -
3-10183764-A-G VHL c.233A>G p.Asn78Ser Missense 1/3 -
3-10183764-A-T VHL c.233A>T p.Asn78Ile Missense 1/3 -
3-10183764-A-C VHL c.233A>C p.Asn78Thr Missense 1/3 -
3-24164404-G-T THRB c.1357C>A p.Pro453Thr Missense 10/10 -
X-153296882-G-T MECP2 c.397C>A p.Arg133Ser Missense 4/4 -
7-142640113-A-G KEL c.1790T>C p.Leu597Pro Missense 17/19 -
3-121980562-G-A CASR c.680G>A p.Arg227Gln Missense 4/7 -
5-149433645-T-C CSF1R c.2906A>G p.Tyr969Cys Missense 22/22 -
2-47643457-G-T MSH2 c.965G>T p.Gly322Val Missense 6/16 -
2-47643457-G-A MSH2 c.965G>A p.Gly322Asp Missense 6/16 -
12-103234285-G-A PAH c.1208C>T p.Ala403Val Missense 12/13 -
2-38298092-G-A CYP1B1 c.1405C>T p.Arg469Trp Missense 3/3 -
17-39780478-A-G KRT17 c.284T>C p.Leu95Pro Missense 1/8 -
17-39780478-A-T KRT17 c.284T>A p.Leu95Gln Missense 1/8 -
13-20797357-G-A GJB6 c.263C>T p.Ala88Val Missense 5/5 -
1-19992513-C-T HTR6 c.267C>T p.Tyr89Tyr Synonymous 1/3 -
3-138664793-A-T FOXL2 c.772T>A p.Tyr258Asn Missense 1/1 -
1-24122692-G-T GALE c.937C>A p.Leu313Met Missense 11/12 -
X-153170618-A-T AVPR2 c.19A>T p.Thr7Ser Missense 2/4 -
1-171174762-G-C FMO2 c.1172G>C p.Arg391Thr Missense 7/9 -
1-24194748-G-A FUCA1 c.29C>T p.Pro10Leu Missense 1/8 -
1-24194748-G-C FUCA1 c.29C>G p.Pro10Arg Missense 1/8 -
1-216424275-C-G USH2A c.2137G>C p.Gly713Arg Missense 12/21 -
3-10188210-T-C VHL c.353T>C p.Leu118Pro Missense 2/3 -
18-58038852-G-T MC4R c.731C>A p.Ala244Glu Missense 1/1 -
1-216424275-C-T USH2A c.2137G>A p.Gly713Ser Missense 12/21 -
7-117267592-G-A CFTR c.3485G>A p.Arg1162Gln Missense 22/27 -
7-117267592-G-T CFTR c.3485G>T p.Arg1162Leu Missense 22/27 -
3-10191555-C-G VHL c.548C>G p.Ser183Trp Missense 3/3 -
19-5843784-A-T FUT3 c.1067T>A p.Ile356Lys Missense 3/3 -
17-70118921-C-T SOX9 c.493C>T p.His165Tyr Missense 2/3 -
1-94487490-A-G ABCA4 c.4685T>C p.Ile1562Thr Missense 33/50 -
11-61723221-G-A BEST1 c.279G>A p.Trp93* Nonsense 4/11 -
13-32912750-G-T BRCA2 c.4258G>T p.Asp1420Tyr Missense 11/27 -
12-103246681-G-A PAH c.754C>T p.Arg252Trp Missense 7/13 -
X-100653551-A-T GLA c.806T>A p.Val269Glu Missense 6/7 -
18-12028109-C-T IMPA2 c.558C>T p.Phe186Phe Synonymous 6/8 -