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
11-2591882-G-C KCNQ1 c.502G>C p.Gly168Arg Missense 3/16 -
12-58145431-G-T CDK4 c.70C>A p.Arg24Ser Missense 2/8 -
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 -
12-121176971-C-T ACADS c.1058C>T p.Ser353Leu Missense 9/10 -
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 -
15-48773971-T-C FBN1 c.3845A>G p.Asn1282Ser Missense 32/66 -
1-171303690-T-C FMO4 c.968T>C p.Val323Ala Missense 8/10 -
1-25747230-G-A RHCE c.48C>T p.Cys16Cys Synonymous 1/10 -
16-89985940-G-C MC1R c.274G>C p.Val92Leu Missense 1/1 -
6-52617738-G-A GSTA2 c.328C>T p.Pro110Ser Missense 5/7 -
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 -
12-103246708-G-A PAH c.727C>T p.Arg243* Nonsense 7/13 -
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-A MSX1 c.365G>A p.Gly122Glu Missense 1/2 -
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 -
11-66618389-C-A PC c.2229G>T p.Met743Ile Missense 18/23 -
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-G HSD17B3 c.865G>C p.Gly289Arg Missense 11/11 -
9-98997810-C-A HSD17B3 c.865G>T p.Gly289Cys Missense 11/11 -
9-98997810-C-T HSD17B3 c.865G>A p.Gly289Ser 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 -
1-27239920-C-G NR0B2 c.512G>C p.Gly171Ala Missense 1/2 -
3-10191506-C-T VHL c.499C>T p.Arg167Trp Missense 3/3 -
11-73717343-G-A UCP3 c.208C>T p.Arg70Trp Missense 3/7 -
17-41245071-G-T BRCA1 c.2477C>A p.Thr826Lys Missense 10/23 -
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 -
12-109017898-C-T SELPLG c.234G>A p.Met78Ile Missense 2/2 -
1-171176912-T-C FMO2 c.1239T>C p.Asn413Asn Synonymous 8/9 -
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 -
1-94463617-C-T ABCA4 c.6529G>A p.Asp2177Asn Missense 48/50 -
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 -
15-72643548-C-T HEXA c.598G>A p.Val200Met Missense 6/14 -
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 -
15-48756146-C-T FBN1 c.5015G>A p.Cys1672Tyr Missense 41/66 -
14-36986962-G-T NKX2-1 c.637C>A p.Arg213Ser Missense 2/2 -
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-C VHL c.250G>C p.Val84Leu Missense 1/3 -
3-10183781-G-T VHL c.250G>T p.Val84Leu Missense 1/3 -
4-6303248-G-T WFS1 c.1726G>T p.Gly576Cys Missense 8/8 -
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 -
20-4680521-G-A PRNP c.655G>A p.Glu219Lys Missense 2/2 -
11-88911737-G-A TYR c.616G>A p.Ala206Thr Missense 1/5 -
X-100653551-A-G GLA c.806T>C p.Val269Ala Missense 6/7 -
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 -
3-195800811-C-T TFRC c.424G>A p.Gly142Ser Missense 4/19 -
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 -
20-47570114-G-A ARFGEF2 c.625G>A p.Glu209Lys Missense 6/39 -
13-32914592-C-A BRCA2 c.6100C>A p.Arg2034Ser Missense 11/27 -
13-32914592-C-T BRCA2 c.6100C>T p.Arg2034Cys Missense 11/27 -
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 -
17-42335888-G-T SLC4A1 c.980C>A p.Pro327His 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 -
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 -
1-53675866-G-A CPT2 c.520G>A p.Glu174Lys Missense 4/5 -
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 -
1-115236057-G-A AMPD1 c.133C>T p.Gln45* Nonsense 2/16 -
19-5844184-C-T FUT3 c.667G>A p.Gly223Arg Missense 3/3 -
X-53459034-G-A HSD17B10 c.388C>T p.Arg130Cys Missense 4/6 -
12-58157952-G-A CYP27B1 c.1144C>T p.Pro382Ser Missense 7/9 -
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-G KCNQ1 c.1343C>G p.Pro448Arg Missense 10/16 -
3-170732328-C-G SLC2A2 c.301G>C p.Val101Leu Missense 3/11 -
11-2610034-C-T KCNQ1 c.1343C>T p.Pro448Leu Missense 10/16 -
11-2610034-C-A KCNQ1 c.1343C>A p.Pro448Gln Missense 10/16 -
1-94461717-C-A ABCA4 c.6764G>T p.Ser2255Ile Missense 49/50 -
X-153297737-G-C MECP2 c.298C>G p.Leu100Val Missense 3/4 -
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-20173553-C-T RPS6KA3 c.2186G>A p.Arg729Gln Missense 22/22 -
11-88911246-A-G TYR c.125A>G p.Asp42Gly Missense 1/5 -
12-103246593-G-A PAH c.842C>T p.Pro281Leu Missense 7/13 -
12-116413092-C-T MED13L c.5615G>A p.Arg1872His Missense 25/31 -
12-4479730-G-T FGF23 c.535C>A p.Arg179Arg Synonymous 3/3 -
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 -
17-76867017-C-T TIMP2 c.303G>A p.Ser101Ser Synonymous 3/5 -
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 -
1-94476467-T-A ABCA4 c.5603A>T p.Asn1868Ile Missense 40/50 -
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 -
22-32445946-A-G SLC5A1 c.152A>G p.Asn51Ser Missense 2/15 -
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 -
8-143961102-C-T CYP11B1 c.128G>A p.Arg43Gln Missense 1/9 -
17-41245027-G-A BRCA1 c.2521C>T p.Arg841Trp Missense 10/23 -
3-10191555-C-A VHL c.548C>A p.Ser183* Nonsense 3/3 -
X-153763492-T-A G6PD c.466A>T p.Asn156Tyr Missense 5/13 -
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 -
12-103234270-C-T PAH c.1223G>A p.Arg408Gln Missense 12/13 -
7-117199643-C-A CFTR c.1518C>A p.Ile506Ile Synonymous 11/27 -
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 -
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-T KCNA1 c.677C>T p.Thr226Met Missense 2/2 -
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 -
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 -
3-10191605-C-T VHL c.598C>T p.Arg200Trp Missense 3/3 -
15-48905270-G-A FBN1 c.184C>T p.Arg62Cys Missense 3/66 -
11-108138045-C-T ATM c.2614C>T p.Pro872Ser Missense 17/63 -
3-129252554-C-G RHO c.1040C>G p.Pro347Arg Missense 5/5 -
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 -
1-35250457-C-T GJB3 c.94C>T p.Arg32Trp Missense 2/2 -
11-64577506-C-T MEN1 c.76G>A p.Glu26Lys Missense 2/10 -
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-G CRB1 c.2234C>G p.Thr745Arg Missense 7/12 -
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-G LMNA c.178C>G p.Arg60Gly Missense 1/12 -
10-43610119-G-T RET c.2071G>T p.Gly691Cys Missense 11/20 -
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 -
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 -
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 -
13-20763380-T-C GJB2 c.341A>G p.Glu114Gly Missense 2/2 -
22-50962330-G-A SCO2 c.511C>T p.Arg171Trp Missense 2/2 -
19-15302945-G-A NOTCH3 c.505C>T p.Arg169Cys Missense 4/33 -
19-5843784-A-C FUT3 c.1067T>G p.Ile356Arg Missense 3/3 -
1-156084887-C-T LMNA c.178C>T p.Arg60Cys Missense 1/12 -
X-100613318-T-C BTK c.1082A>G p.Tyr361Cys Missense 12/19 -
19-36322601-T-C NPHS1 c.3230A>G p.Asn1077Ser Missense 24/29 -
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 -
12-6127891-C-A VWF c.4693G>T p.Val1565Leu Missense 28/52 -
X-100653378-G-T GLA c.979C>A p.Gln327Lys Missense 6/7 -
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 -
17-41244429-C-T BRCA1 c.3119G>A p.Ser1040Asn Missense 10/23 -
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 -
2-227661921-C-G IRS1 c.1534G>C p.Ala512Pro Missense 1/2 -
13-48919246-A-T RB1 c.411A>T p.Glu137Asp Missense 4/27 -
11-64577506-C-A MEN1 c.76G>T p.Glu26* Nonsense 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 -
18-58038829-C-T MC4R c.754G>A p.Gly252Ser Missense 1/1 -
12-125348263-C-T SCARB1 c.4G>A p.Gly2Ser Missense 1/13 -
13-32968940-A-T BRCA2 c.9371A>T p.Asn3124Ile Missense 25/27 -
19-38990637-G-T RYR1 c.7304G>T p.Arg2435Leu Missense 45/106 -
16-67470523-C-T HSD11B2 c.835C>T p.Arg279Cys Missense 5/5 -
1-98157332-G-A DPYD c.703C>T p.Arg235Trp Missense 7/23 -
17-36099446-G-A HNF1B c.529C>T p.Arg177* Nonsense 2/9 -
4-996555-G-A IDUA c.1225G>A p.Gly409Arg Missense 9/14 -
3-129252554-C-T RHO c.1040C>T p.Pro347Leu Missense 5/5 -
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 -
12-58158293-C-T CYP27B1 c.1004G>A p.Arg335Gln Missense 6/9 -
11-88911285-G-A TYR c.164G>A p.Cys55Tyr Missense 1/5 -
2-227662189-A-G IRS1 c.1266T>C p.Asp422Asp Synonymous 1/2 -
6-132172368-A-C ENPP1 c.517A>C p.Lys173Gln Missense 4/25 -
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 -
13-32914132-T-G BRCA2 c.5640T>G p.Asn1880Lys Missense 11/27 -
16-88876242-A-G APRT c.407T>C p.Met136Thr 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 -
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 -
11-88911285-G-C TYR c.164G>C p.Cys55Ser Missense 1/5 -
5-131915673-G-A RAD50 c.671G>A p.Arg224His Missense 5/25 -
4-6304014-G-A WFS1 c.2492G>A p.Gly831Asp Missense 8/8 -
16-89869704-T-C FANCA c.755A>G p.Asp252Gly Missense 8/43 -
7-87079406-T-A ABCB4 c.711A>T p.Ile237Ile Synonymous 8/28 -
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 -
22-51065808-G-A ARSA c.251C>T p.Pro84Leu Missense 2/8 -
2-176959342-C-T HOXD13 c.916C>T p.Arg306Trp Missense 2/2 -
2-176959342-C-G HOXD13 c.916C>G p.Arg306Gly Missense 2/2 -
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 -
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 -
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 -
1-161140257-A-C PPOX c.1046A>C p.Asp349Ala Missense 10/13 -
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 -
5-121786403-C-G SNCAIP c.763C>G p.Arg255Gly Missense 8/10 -
8-18080001-G-C NAT1 c.445G>C p.Val149Leu Missense 3/3 -
3-129247734-C-G RHO c.158C>G p.Pro53Arg Missense 1/5 -
18-58039494-G-A MC4R c.89C>T p.Ser30Phe Missense 1/1 -
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 -
9-36217396-A-G GNE c.2135T>C p.Met712Thr Missense 12/12 -
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 -
X-100653467-G-A GLA c.890C>T p.Ser297Phe Missense 6/7 -
7-117180343-A-C CFTR c.1059A>C p.Gln353His Missense 8/27 -
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 -
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 -
14-35873756-C-T NFKBIA c.95G>A p.Ser32Asn Missense 1/6 -
14-35873756-C-A NFKBIA c.95G>T p.Ser32Ile Missense 1/6 -
11-108160350-C-T ATM c.4258C>T p.Leu1420Phe Missense 29/63 -
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 -
19-38990637-G-A RYR1 c.7304G>A p.Arg2435His Missense 45/106 -
17-7127707-G-A ACADVL c.1600G>A p.Glu534Lys Missense 16/20 -
5-142780337-C-T NR3C1 c.68G>A p.Arg23Lys Missense 2/9 -
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-T MVK c.58C>T p.His20Tyr Missense 2/11 -
19-38937350-G-T RYR1 c.742G>T p.Gly248Trp Missense 9/106 -
12-110012685-C-A MVK c.58C>A p.His20Asn Missense 2/11 -
11-2604765-C-G KCNQ1 c.1022C>G p.Ala341Gly Missense 7/16 -
19-38937350-G-C RYR1 c.742G>C p.Gly248Arg Missense 9/106 -
10-50678369-T-C ERCC6 c.3637A>G p.Arg1213Gly Missense 18/21 -
16-27373872-A-T IL4R c.1199A>T p.Glu400Val Missense 11/11 -
16-27373872-A-G IL4R c.1199A>G p.Glu400Gly Missense 11/11 -
9-136220748-C-T SURF1 c.371G>A p.Gly124Glu Missense 5/9 -
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 -
17-7912879-C-T GUCY2D c.1724C>T p.Pro575Leu Missense 8/20 -
3-129247749-C-G RHO c.173C>G p.Thr58Arg Missense 1/5 -
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 -
3-10191532-C-G VHL c.525C>G p.Tyr175* Nonsense 3/3 -
7-113518498-C-T PPP1R3A c.2649G>A p.Arg883Arg Synonymous 4/4 -
X-37587260-T-C XK c.880T>C p.Cys294Arg Missense 3/3 -
3-38645249-C-T SCN5A c.1844G>A p.Gly615Glu Missense 12/28 -
X-153296815-A-C MECP2 c.464T>G p.Phe155Cys Missense 4/4 -
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 -
2-176959390-A-G HOXD13 c.964A>G p.Ile322Val Missense 2/2 -
2-176959390-A-C HOXD13 c.964A>C p.Ile322Leu Missense 2/2 -
17-41244000-T-A BRCA1 c.3548A>T p.Lys1183Ile Missense 10/23 -
3-10188201-A-G VHL c.344A>G p.His115Arg Missense 2/3 -
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 -
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 -
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 -
22-42276825-G-A SREBF2 c.1867G>A p.Val623Met Missense 10/19 -
3-10191578-C-G VHL c.571C>G p.His191Asp Missense 3/3 -
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 -
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 -
13-32906593-C-T BRCA2 c.978C>T p.Ser326Ser Synonymous 10/27 -
7-155604726-C-T SHH c.91G>A p.Gly31Arg Missense 1/3 -
15-76578762-G-A ETFA c.512C>T p.Thr171Ile Missense 6/12 -
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 -
X-153296815-A-G MECP2 c.464T>C p.Phe155Ser Missense 4/4 -
4-52895065-G-C SGCB c.452C>G p.Thr151Arg Missense 4/6 -
14-23900677-C-T MYH7 c.746G>A p.Arg249Gln Missense 9/40 -
1-156104288-A-T LMNA c.608A>T p.Glu203Val Missense 3/12 -
12-53298582-C-A KRT8 c.184G>T p.Gly62Cys Missense 1/8 -
15-48737664-G-T FBN1 c.5826C>A p.Cys1942* Nonsense 48/66 -
3-10183770-G-A VHL c.239G>A p.Ser80Asn Missense 1/3 -
17-7577511-A-T TP53 c.770T>A p.Leu257Gln Missense 7/11 -
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 -
17-41226488-C-A BRCA1 c.4535G>T p.Ser1512Ile Missense 14/23 -
X-153171297-C-T AVPR2 c.337C>T p.Arg113Trp Missense 3/4 -
7-42005871-C-G GLI3 c.2800G>C p.Ala934Pro Missense 15/15 -
22-29121087-A-C CHEK2 c.599T>G p.Ile200Ser Missense 5/16 -
12-103246681-G-T PAH c.754C>A p.Arg252Arg Synonymous 7/13 -
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-C PAH c.754C>G p.Arg252Gly Missense 7/13 -
1-171083403-G-A FMO3 c.1084G>A p.Glu362Lys Missense 7/9 -
11-88911363-C-T TYR c.242C>T p.Pro81Leu Missense 1/5 -
1-171083403-G-C FMO3 c.1084G>C p.Glu362Gln Missense 7/9 -
7-117144344-C-T CFTR c.91C>T p.Arg31Cys Missense 2/27 -
12-57535266-C-A LRP1 c.300C>A p.Asp100Glu Missense 3/89 -
17-7578532-A-G TP53 c.398T>C p.Met133Thr Missense 5/11 -
21-44478972-C-T CBS c.1330G>A p.Asp444Asn Missense 14/17 -
3-10183781-G-A VHL c.250G>A p.Val84Met Missense 1/3 -
4-6303248-G-A WFS1 c.1726G>A p.Gly576Ser Missense 8/8 -
7-117144344-C-A CFTR c.91C>A p.Arg31Ser Missense 2/27 -
1-53679173-A-C CPT2 c.1883A>C p.Tyr628Ser Missense 5/5 -
12-57535266-C-T LRP1 c.300C>T p.Asp100Asp Synonymous 3/89 -
5-149433645-T-A CSF1R c.2906A>T p.Tyr969Phe Missense 22/22 -
15-48780418-A-T FBN1 c.3229T>A p.Ser1077Thr Missense 27/66 -
15-80472526-C-A FAH c.1021C>A p.Arg341Arg Synonymous 12/14 -
12-121175678-C-T ACADS c.511C>T p.Arg171Trp Missense 5/10 -
17-39768579-A-G KRT16 c.362T>C p.Met121Thr Missense 1/8 -
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 -
11-2187923-C-T TH c.917G>A p.Arg306His Missense 8/13 -
8-30938648-C-T WRN c.1105C>T p.Arg369* Nonsense 9/35 -
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 -
3-37053562-C-A MLH1 c.649C>A p.Arg217Ser Missense 8/19 -
22-50962443-C-T SCO2 c.398G>A p.Cys133Tyr Missense 2/2 -
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 -
3-129251565-A-G RHO c.886A>G p.Lys296Glu Missense 4/5 -
17-79479026-G-A ACTG1 c.266C>T p.Thr89Ile Missense 3/6 -
3-10183797-T-C VHL c.266T>C p.Leu89Pro Missense 1/3 -
6-31828365-C-T NEU1 c.649G>A p.Val217Met Missense 4/6 -
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 -
12-52308229-G-A ACVRL1 c.632G>A p.Gly211Asp Missense 6/10 -
5-137206510-C-T MYOT c.170C>T p.Thr57Ile Missense 2/10 -
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 -
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-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 -
4-141483471-T-A UCP1 c.685A>T p.Met229Leu Missense 5/6 -
X-100653420-C-T GLA c.937G>A p.Asp313Asn Missense 6/7 -
16-56904031-C-T SLC12A3 c.625C>T p.Arg209Trp Missense 5/26 -
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 -
X-153171400-C-T AVPR2 c.440C>T p.Ala147Val Missense 3/4 -
7-117232223-C-A CFTR c.2002C>A p.Arg668Ser Missense 14/27 -
19-36339044-C-T NPHS1 c.1339G>A p.Glu447Lys Missense 11/29 -
7-95034775-G-C PON2 c.932C>G p.Ser311Cys Missense 9/9 -
17-78086713-G-T GAA c.1927G>T p.Gly643Trp Missense 14/20 -
3-10183823-T-C VHL c.292T>C p.Tyr98His Missense 1/3 -
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 -
1-24122673-C-T GALE c.956G>A p.Gly319Glu Missense 11/12 -
18-13884757-T-C MC2R c.761A>G p.Tyr254Cys Missense 2/2 -
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 -
12-103234271-G-A PAH c.1222C>T p.Arg408Trp Missense 12/13 -
12-103237547-G-C PAH c.1076C>G p.Ser359* Nonsense 11/13 -
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 -
6-132172368-A-G ENPP1 c.517A>G p.Lys173Glu Missense 4/25 -
14-37132368-A-G PAX9 c.271A>G p.Lys91Glu Missense 3/5 -
15-51534995-A-G CYP19A1 c.115T>C p.Trp39Arg Missense 2/10 -
1-97981395-T-C DPYD c.1627A>G p.Ile543Val Missense 13/23 -
1-169519112-C-T F5 c.1538G>A p.Arg513Lys Missense 10/25 -
2-202074098-G-A CASP10 c.1228G>A p.Val410Ile Missense 9/10 -
X-55047554-T-A ALAS2 c.569A>T p.Asp190Val Missense 5/11 -
3-10191506-C-G VHL c.499C>G p.Arg167Gly Missense 3/3 -
12-52309898-T-G ACVRL1 c.1127T>G p.Met376Arg Missense 8/10 -
11-17419279-C-T ABCC8 c.3819G>A p.Arg1273Arg Synonymous 31/39 -
12-58158293-C-G CYP27B1 c.1004G>C p.Arg335Pro Missense 6/9 -
1-227076678-A-T PSEN2 c.715A>T p.Met239Leu Missense 8/13 -
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 -
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 -
10-131557525-A-G MGMT c.427A>G p.Ile143Val Missense 5/5 -
21-38309098-A-C HLCS c.647T>G p.Leu216Arg Missense 5/12 -
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 -
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-T FBN1 c.4930C>A p.Arg1644Arg Synonymous 40/66 -
1-98165091-T-C DPYD c.496A>G p.Met166Val Missense 6/23 -
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 -
17-39768558-A-G KRT16 c.383T>C p.Leu128Pro Missense 1/8 -
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 -
3-37053568-A-T MLH1 c.655A>T p.Ile219Phe Missense 8/19 -
1-207782856-A-G CR1 c.4768A>G p.Lys1590Glu Missense 29/39 -
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-A FBN1 c.4930C>T p.Arg1644* Nonsense 40/66 -
17-7918017-G-C GUCY2D c.2511G>C p.Glu837Asp Missense 13/20 -
1-94490595-G-T ABCA4 c.4549C>A p.Arg1517Ser Missense 31/50 -
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 -
X-153588567-G-A FLNA c.3596C>T p.Ser1199Leu Missense 22/48 -
1-227076678-A-G PSEN2 c.715A>G p.Met239Val Missense 8/13 -
17-39780499-A-T KRT17 c.263T>A p.Met88Lys Missense 1/8 -
4-111543456-A-T PITX2 c.161T>A p.Leu54Gln Missense 1/3 -
17-39780499-A-G KRT17 c.263T>C p.Met88Thr Missense 1/8 -
5-147480027-G-A SPINK5 c.1103G>A p.Ser368Asn Missense 13/34 -
20-3063745-A-G AVP c.200T>C p.Val67Ala Missense 2/3 -
X-100653522-G-C GLA c.835C>G p.Gln279Glu Missense 6/7 -
10-72358173-G-A PRF1 c.1304C>T p.Thr435Met Missense 3/3 -
5-1411412-T-C SLC6A3 c.1215A>G p.Ser405Ser Synonymous 9/15 -
1-201047062-G-A CACNA1S c.1564C>T p.Leu522Leu Synonymous 11/44 -
2-220439916-G-A INHA c.769G>A p.Ala257Thr Missense 2/2 -
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 -
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 -
1-183532437-G-A NCF2 c.1183C>T p.Arg395Trp Missense 13/15 -
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 -
19-45322744-A-G BCAM c.1615A>G p.Thr539Ala Missense 12/15 -
X-153993747-T-C DKC1 c.113T>C p.Ile38Thr Missense 3/15 -
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 -
X-100653378-G-A GLA c.979C>T p.Gln327* Nonsense 6/7 -
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 -
1-101196787-G-C VCAM1 c.1238G>C p.Gly413Ala Missense 6/9 -
1-226026406-A-T EPHX1 c.416A>T p.His139Leu Missense 4/9 -
8-30915997-C-T WRN c.34C>T p.Gln12* Nonsense 2/35 -
17-79767715-G-A GCGR c.118G>A p.Gly40Ser Missense 3/14 -
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 -
9-21971108-C-T CDKN2A c.250G>A p.Asp84Asn Missense 2/3 -
12-6457062-T-C SCNN1A c.1987A>G p.Thr663Ala Missense 13/13 -
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 -
17-7577559-G-C TP53 c.722C>G p.Ser241Cys Missense 7/11 -
X-153588601-C-T FLNA c.3562G>A p.Ala1188Thr Missense 22/48 -
11-27680107-G-T BDNF c.5C>A p.Thr2Asn Missense 1/1 -
16-3304739-A-G MEFV c.329T>C p.Leu110Pro Missense 2/10 -
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 -
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 -
6-137527299-G-T IFNGR1 c.347C>A p.Ser116* Nonsense 3/7 -
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 -
17-41055964-C-T G6PC c.247C>T p.Arg83Cys Missense 2/5 -
3-10183752-T-G VHL c.221T>G p.Val74Gly Missense 1/3 -
2-47656972-C-T MSH2 c.1168C>T p.Leu390Phe Missense 7/16 -
2-47656972-C-G MSH2 c.1168C>G p.Leu390Val Missense 7/16 -
4-6303618-C-T WFS1 c.2096C>T p.Thr699Met Missense 8/8 -
16-2156600-G-A PKD1 c.7288C>T p.Arg2430* Nonsense 18/46 -
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 -
3-10188264-T-C VHL c.407T>C p.Phe136Ser Missense 2/3 -
2-169847329-T-C ABCB11 c.890A>G p.Glu297Gly Missense 9/28 -
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 -
11-66619415-C-T PC c.1828G>A p.Ala610Thr Missense 16/23 -
16-67470004-G-A HSD11B2 c.623G>A p.Arg208His Missense 3/5 -
7-150648703-A-T KCNH2 c.1778T>A p.Ile593Lys Missense 7/15 -
22-42525811-T-C CYP2D6 c.281A>G p.His94Arg Missense 2/9 -
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 -
19-5831840-C-T FUT6 c.739G>A p.Glu247Lys Missense 3/3 -
13-78477665-G-A EDNRB c.561C>T p.Ile187Ile Synonymous 3/8 -
4-55593685-T-G KIT c.1751T>G p.Phe584Cys Missense 11/21 -
8-18080116-G-A NAT1 c.560G>A p.Arg187Gln Missense 3/3 -
3-10191497-C-T VHL c.490C>T p.Gln164* Nonsense 3/3 -
X-100653777-T-G GLA c.797A>C p.Asp266Ala Missense 5/7 -
13-32893271-A-G BRCA2 c.125A>G p.Tyr42Cys Missense 3/27 -
17-7578479-G-A TP53 c.451C>T p.Pro151Ser Missense 5/11 -
17-78086713-G-A GAA c.1927G>A p.Gly643Arg Missense 14/20 -
19-41349750-C-A CYP2A6 c.1436G>T p.Gly479Val Missense 9/9 -
16-27373964-T-C IL4R c.1291T>C p.Cys431Arg Missense 11/11 -
14-75514420-G-A MLH3 c.1939C>T p.Arg647Cys Missense 2/12 -
7-75615277-G-A POR c.1706G>A p.Cys569Tyr Missense 14/16 -
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 -
4-111542459-C-T PITX2 c.272G>A p.Arg91Gln Missense 2/3 -
4-111542459-C-G PITX2 c.272G>C p.Arg91Pro Missense 2/3 -
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-G VHL c.490C>G p.Gln164Glu Missense 3/3 -
X-100653777-T-A GLA c.797A>T p.Asp266Val 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 -
13-108863609-G-C LIG4 c.8C>G p.Ala3Gly Missense 2/2 -
6-26091269-G-C HFE c.277G>C p.Gly93Arg Missense 2/6 -
1-94564483-C-T ABCA4 c.635G>A p.Arg212His Missense 6/50 -
18-58039291-C-T MC4R c.292G>A p.Gly98Arg Missense 1/1 -
17-7578479-G-C TP53 c.451C>G p.Pro151Ala Missense 5/11 -
7-117250664-T-C CFTR c.3080T>C p.Ile1027Thr Missense 19/27 -
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 -
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 -
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 -
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 -
5-7885907-C-T MTRR c.997C>T p.Leu333Phe Missense 7/15 -
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 -
17-42988676-A-G GFAP c.1055T>C p.Leu352Pro Missense 6/9 -
17-7577548-C-G TP53 c.733G>C p.Gly245Arg Missense 7/11 -
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-A CYP3A4 c.1357C>T p.Leu453Phe Missense 12/13 -
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 -
1-183532437-G-C NCF2 c.1183C>G p.Arg395Gly Missense 13/15 -
13-33628193-G-T KL c.1109G>T p.Cys370Phe Missense 2/5 -
22-51064039-G-C ARSA c.1178C>G p.Thr393Ser Missense 7/8 -
X-113965735-G-T HTR2C c.68G>T p.Cys23Phe Missense 4/6 -
17-7123506-G-A ACADVL c.128G>A p.Gly43Asp Missense 2/20 -
17-41223048-A-G BRCA1 c.4883T>C p.Met1628Thr Missense 15/23 -
14-37132173-C-T PAX9 c.76C>T p.Arg26Trp Missense 3/5 -
19-49253814-A-C FUT1 c.725T>G p.Leu242Arg Missense 4/4 -
12-121177159-C-T ACADS c.1147C>T p.Arg383Cys Missense 10/10 -
1-25627552-C-G RHD c.602C>G p.Thr201Arg Missense 4/10 -
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 -
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 -
3-38648200-C-T SCN5A c.1100G>A p.Arg367His Missense 9/28 -
X-153588687-T-G FLNA c.3476A>C p.Asp1159Ala Missense 22/48 -
X-113961355-C-G HTR2C c.10C>G p.Leu4Val Missense 3/6 -
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 -
17-41222975-C-T BRCA1 c.4956G>A p.Met1652Ile Missense 15/23 -
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 -
14-37132159-T-C PAX9 c.62T>C p.Leu21Pro Missense 3/5 -
13-78492540-C-T EDNRB c.169G>A p.Gly57Ser Missense 2/8 -
16-3299586-G-T MEFV c.1105C>A p.Pro369Thr Missense 3/10 -
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 -
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 -
8-143996516-G-A CYP11B2 c.541C>T p.Arg181Trp Missense 3/9 -
3-10183811-G-A VHL c.280G>A p.Glu94Lys Missense 1/3 -
14-88450770-G-A GALC c.550C>T p.Arg184Cys Missense 5/17 -
7-117282582-G-T CFTR c.3808G>T p.Asp1270Tyr Missense 23/27 -
8-143956428-C-T CYP11B1 c.1343G>A p.Arg448His Missense 8/9 -
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 -
17-39780488-T-C KRT17 c.274A>G p.Asn92Asp Missense 1/8 -
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 -
11-111958677-A-G SDHD c.149A>G p.His50Arg Missense 2/4 -
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 -
22-42525772-G-T CYP2D6 c.320C>A p.Thr107Asn Missense 2/9 -
16-3299468-C-T MEFV c.1223G>A p.Arg408Gln Missense 3/10 -
8-143996539-T-C CYP11B2 c.518A>G p.Lys173Arg Missense 3/9 -
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 -
10-72358443-G-T PRF1 c.1034C>A p.Pro345His Missense 3/3 -
17-7127184-G-A ACADVL c.1322G>A p.Gly441Asp Missense 13/20 -
22-46615880-T-C PPARA c.680T>C p.Val227Ala Missense 6/8 -
13-78475230-C-T EDNRB c.914G>A p.Ser305Asn Missense 5/8 -
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 -
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 -
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 -
1-101196787-G-A VCAM1 c.1238G>A p.Gly413Asp Missense 6/9 -
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 -
20-10394008-C-T MKKS c.155G>A p.Gly52Asp Missense 3/6 -
3-10188251-C-T VHL c.394C>T p.Gln132* Nonsense 2/3 -
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 -
X-46719498-C-T RP2 c.844C>T p.Arg282Trp Missense 3/5 -
1-171083242-A-G FMO3 c.923A>G p.Glu308Gly Missense 7/9 -
9-136302063-C-T ADAMTS13 c.1423C>T p.Pro475Ser Missense 12/29 -
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 -
17-39742731-A-G KRT14 c.356T>C p.Met119Thr Missense 1/8 -
17-4720469-C-T PLD2 c.1730C>T p.Thr577Ile Missense 17/25 -
13-32945172-A-C BRCA2 c.8567A>C p.Glu2856Ala Missense 20/27 -
18-58039300-C-T MC4R c.283G>A p.Val95Ile Missense 1/1 -
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 -
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 -
15-48729567-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 -
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 -
18-58039300-C-A MC4R c.283G>T p.Val95Phe Missense 1/1 -
11-61724901-T-A BEST1 c.679T>A p.Tyr227Asn Missense 6/11 -
19-38991294-C-T RYR1 c.7372C>T p.Arg2458Cys Missense 46/106 -
15-48779634-T-C FBN1 c.3338A>G p.Asp1113Gly Missense 28/66 -
11-17436865-G-A ABCC8 c.2277C>T p.Thr759Thr Synonymous 18/39 -
11-61723195-T-C BEST1 c.253T>C p.Tyr85His Missense 4/11 -
12-103246666-C-T PAH c.769G>A p.Gly257Ser Missense 7/13 -
14-80669580-T-C DIO2 c.274A>G p.Thr92Ala Missense 4/4 -
12-58159856-C-T CYP27B1 c.320G>A p.Arg107His Missense 2/9 -
11-61726991-C-T BEST1 c.889C>T p.Pro297Ser Missense 8/11 -
11-88911122-A-G TYR c.1A>G p.Met1Val Missense 1/5 -
11-61726991-C-G BEST1 c.889C>G p.Pro297Ala Missense 8/11 -
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 -
X-43817891-T-C NDP c.1A>G p.Met1Val Missense 2/3 -
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 -
15-48734013-A-G FBN1 c.6068T>C p.Ile2023Thr Missense 50/66 -
12-103260410-C-T PAH c.473G>A p.Arg158Gln Missense 5/13 -
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-G PAH c.473G>C p.Arg158Pro Missense 5/13 -
17-39780466-A-G KRT17 c.296T>C p.Leu99Pro Missense 1/8 -
16-2120572-G-A TSC2 c.1832G>A p.Arg611Gln Missense 17/42 -
6-31324895-G-A HLA-B c.41C>T p.Ser14Leu Missense 1/8 -
4-6304118-G-A WFS1 c.2596G>A p.Asp866Asn Missense 8/8 -
18-58038633-A-G MC4R c.950T>C p.Ile317Thr Missense 1/1 -
3-46414696-T-A CCR5 c.303T>A p.Cys101* Nonsense 3/3 -
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 -
12-103249039-A-G PAH c.581T>C p.Leu194Pro Missense 6/13 -
11-1782594-G-A CTSD c.173C>T p.Ala58Val Missense 2/9 -
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 -
4-15826558-C-A CD38 c.418C>A p.Arg140Arg Synonymous 3/8 -
14-24839083-G-C NFATC4 c.479G>C p.Gly160Ala Missense 2/10 -
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 -
4-6304118-G-T WFS1 c.2596G>T p.Asp866Tyr Missense 8/8 -
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 -
X-153761205-C-T G6PD c.1093G>A p.Ala365Thr Missense 9/13 -
11-6291120-G-A CCKBR c.373G>A p.Val125Ile Missense 2/5 -
X-153761205-C-A G6PD c.1093G>T p.Ala365Ser Missense 9/13 -
22-42525035-C-T CYP2D6 c.505G>A p.Gly169Arg Missense 3/9 -
22-42525035-C-A CYP2D6 c.505G>T p.Gly169* Nonsense 3/9 -
4-6302889-G-A WFS1 c.1367G>A p.Arg456His Missense 8/8 -
1-160106455-T-C ATP1A2 c.2659T>C p.Trp887Arg Missense 19/23 -
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 -
6-160664685-G-A SLC22A2 c.1198C>T p.Arg400Cys Missense 7/11 -
1-201029943-C-T CACNA1S c.3257G>A p.Arg1086His Missense 26/44 -
15-28202743-G-A OCA2 c.1775C>T p.Thr592Ile Missense 16/24 -
1-161138933-C-T PPOX c.767C>T p.Pro256Leu Missense 7/13 -
3-10183868-C-A VHL c.337C>A p.Arg113Arg Synonymous 1/3 -
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 -
2-71797430-G-T DYSF c.2997G>T p.Trp999Cys Missense 28/55 -
3-57232242-T-C HESX1 c.541A>G p.Thr181Ala Missense 4/4 -
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 -
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 -
18-58039090-G-T MC4R c.493C>A p.Arg165Arg Synonymous 1/1 -
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 -
16-89806477-C-A FANCA c.3859G>T p.Val1287Phe Missense 39/43 -
13-32911295-G-T BRCA2 c.2803G>T p.Asp935Tyr Missense 11/27 -
1-156107534-C-T LMNA c.1698C>T p.His566His Synonymous 10/12 -
13-32911295-G-C BRCA2 c.2803G>C p.Asp935His Missense 11/27 -
7-117282582-G-A CFTR c.3808G>A p.Asp1270Asn Missense 23/27 -
13-108863591-G-A LIG4 c.26C>T p.Thr9Ile Missense 2/2 -
7-75614973-T-A POR c.1475T>A p.Val492Glu Missense 13/16 -
X-100653551-A-C GLA c.806T>G p.Val269Gly Missense 6/7 -
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 -
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-153763531-C-T G6PD c.427G>A p.Asp143Asn Missense 5/13 -
19-41597751-C-T CYP2A13 c.769C>T p.Arg257Cys Missense 5/9 -
11-17418527-C-T ABCC8 c.4055G>A p.Arg1352His Missense 33/39 -
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 -
5-131911535-A-T RAD50 c.280A>T p.Ile94Leu Missense 3/25 -
4-6303033-C-A WFS1 c.1511C>A p.Pro504Gln Missense 8/8 -
6-137219351-T-A PEX7 c.875T>A p.Leu292* Nonsense 9/10 -
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 -
15-48737627-G-A FBN1 c.5863C>T p.Gln1955* Nonsense 48/66 -
10-120353843-G-A PRLHR c.914C>T p.Pro305Leu Missense 2/2 -
11-17418527-C-G ABCC8 c.4055G>C p.Arg1352Pro Missense 33/39 -
2-38302350-C-G CYP1B1 c.182G>C p.Gly61Ala Missense 2/3 -
13-32906593-C-A BRCA2 c.978C>A p.Ser326Arg Missense 10/27 -
5-131911535-A-C RAD50 c.280A>C p.Ile94Leu Missense 3/25 -
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-T WFS1 c.1511C>T p.Pro504Leu Missense 8/8 -
7-117232642-A-G CFTR c.2421A>G p.Ile807Met Missense 14/27 -
16-83932868-T-C MLYCD c.119T>C p.Met40Thr Missense 1/5 -
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 -
19-3595794-A-G TBXA2R c.924T>C p.Tyr308Tyr Synonymous 3/3 -
6-121769078-G-A GJA1 c.1085G>A p.Arg362Gln Missense 2/2 -
1-24123212-T-C GALE c.770A>G p.Lys257Arg Missense 9/12 -
7-6045627-C-G PMS2 c.59G>C p.Arg20Pro Missense 2/15 -
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 -
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-A PMS2 c.59G>T p.Arg20Leu Missense 2/15 -
7-6045627-C-T PMS2 c.59G>A p.Arg20Gln Missense 2/15 -
14-37132180-G-C PAX9 c.83G>C p.Arg28Pro Missense 3/5 -
11-73717247-C-T UCP3 c.304G>A p.Val102Ile Missense 3/7 -
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 -
18-3457439-A-G TGIF1 c.707A>G p.Gln236Arg Missense 3/3 -
14-23900677-C-A MYH7 c.746G>T p.Arg249Leu Missense 9/40 -
14-37132180-G-A PAX9 c.83G>A p.Arg28His Missense 3/5 -
9-21970979-C-G CDKN2A c.379G>C p.Ala127Pro Missense 2/3 -
3-10191569-C-G VHL c.562C>G p.Leu188Val Missense 3/3 -
22-51063820-G-A ARSA c.1283C>T p.Pro428Leu Missense 8/8 -
9-35076755-G-A FANCG c.890C>T p.Thr297Ile Missense 7/14 -
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 -
4-6303693-C-T WFS1 c.2171C>T p.Pro724Leu Missense 8/8 -
7-65554101-A-G ASL c.857A>G p.Gln286Arg Missense 12/17 -
12-121622304-A-G P2RX7 c.1487A>G p.Glu496Gly Missense 13/13 -
5-112175240-G-C APC c.3949G>C p.Glu1317Gln Missense 16/16 -
19-45322962-A-T BCAM c.1742A>T p.Gln581Leu Missense 13/15 -
8-6728298-C-T DEFB1 c.112G>A p.Val38Ile Missense 2/2 -
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 -
17-15134248-G-T PMP22 c.469C>A p.Arg157Arg Synonymous 5/5 -
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 -
2-190719499-G-A PMS1 c.1501G>A p.Gly501Arg Missense 9/13 -
X-30322790-T-C NR0B1 c.1319A>G p.Asn440Ser Missense 2/2 -
10-96827030-C-A CYP2C8 c.416G>T p.Arg139Met Missense 3/9 -
X-30322790-T-A NR0B1 c.1319A>T p.Asn440Ile Missense 2/2 -
3-10183808-G-T VHL c.277G>T p.Gly93Cys Missense 1/3 -
12-103234252-T-C PAH c.1241A>G p.Tyr414Cys Missense 12/13 -
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 -
20-4705718-C-G PRND c.521C>G p.Thr174Arg Missense 2/2 -
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-T PRND c.521C>T p.Thr174Met Missense 2/2 -
3-129252554-C-A RHO c.1040C>A p.Pro347Gln Missense 5/5 -
X-153762655-T-A G6PD c.632A>T p.Asp211Val Missense 6/13 -
11-2591882-G-A KCNQ1 c.502G>A p.Gly168Arg Missense 3/16 -
7-44104896-C-A PGAM2 c.233G>T p.Trp78Leu Missense 1/3 -
11-61723297-G-C BEST1 c.355G>C p.Glu119Gln Missense 4/11 -
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 -
1-97544627-C-A DPYD c.2983G>T p.Val995Phe Missense 23/23 -
3-48617744-G-A COL7A1 c.5086C>T p.Arg1696Cys Missense 55/118 -
19-5832209-G-A FUT6 c.370C>T p.Pro124Ser Missense 3/3 -
7-99367427-C-T CYP3A4 c.485G>A p.Arg162Gln Missense 6/13 -
3-57232504-T-C HESX1 c.374A>G p.Asn125Ser Missense 3/4 -
17-7577511-A-G TP53 c.770T>C p.Leu257Pro Missense 7/11 -
1-171168584-C-G FMO2 c.584C>G p.Ser195* Nonsense 5/9 -
1-24124650-T-C GALE c.308A>G p.Asp103Gly Missense 5/12 -
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 -
1-171168584-C-T FMO2 c.584C>T p.Ser195Leu Missense 5/9 -
X-100653783-T-A GLA c.791A>T p.Asp264Val Missense 5/7 -
3-10191581-C-G VHL c.574C>G p.Pro192Ala Missense 3/3 -
1-94487443-C-T ABCA4 c.4732G>A p.Gly1578Arg Missense 33/50 -
7-117307076-C-G CFTR c.4357C>G p.Arg1453Gly Missense 27/27 -
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 -
11-2604765-C-A KCNQ1 c.1022C>A p.Ala341Glu Missense 7/16 -
11-2604765-C-T KCNQ1 c.1022C>T p.Ala341Val Missense 7/16 -
1-119958071-C-A HSD3B2 c.29C>A p.Ala10Glu Missense 2/4 -
1-119958071-C-T HSD3B2 c.29C>T p.Ala10Val Missense 2/4 -
4-187476360-G-A MTNR1A c.160C>T p.Arg54Trp Missense 1/2 -
1-171083398-T-C FMO3 c.1079T>C p.Leu360Pro Missense 7/9 -
4-187476360-G-C MTNR1A c.160C>G p.Arg54Gly Missense 1/2 -
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 -
3-10183739-G-A VHL c.208G>A p.Glu70Lys Missense 1/3 -
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 -
22-42524817-C-G CYP2D6 c.635G>C p.Gly212Ala Missense 4/9 -
7-107350627-G-A SLC26A4 c.2218G>A p.Gly740Ser Missense 19/21 -
1-201022666-C-T CACNA1S c.3716G>A p.Arg1239His Missense 30/44 -
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 -
4-23814707-G-A PPARGC1A c.1835C>T p.Thr612Met Missense 9/13 -
4-23814707-G-T PPARGC1A c.1835C>A p.Thr612Lys Missense 9/13 -
1-97564154-C-T DPYD c.2657G>A p.Arg886His Missense 21/23 -
1-197396689-C-A CRB1 c.2234C>A p.Thr745Lys Missense 7/12 -
14-75516289-G-C MLH3 c.70C>G p.Gln24Glu Missense 2/12 -
11-61727002-G-C BEST1 c.900G>C p.Glu300Asp Missense 8/11 -
17-41258504-A-G BRCA1 c.181T>C p.Cys61Arg Missense 4/23 -
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 -
6-160677669-C-G SLC22A2 c.495G>C p.Met165Ile Missense 2/11 -
4-186066117-A-G SLC25A4 c.311A>G p.Asp104Gly Missense 2/4 -
11-47361308-C-T MYBPC3 c.1961G>A p.Arg654His Missense 21/35 -
6-160677669-C-T SLC22A2 c.495G>A p.Met165Ile Missense 2/11 -
1-24124689-C-T GALE c.269G>A p.Gly90Glu Missense 5/12 -
3-10191555-C-T VHL c.548C>T p.Ser183Leu Missense 3/3 -
17-42328621-G-A SLC4A1 c.2561C>T p.Pro854Leu Missense 19/20 -
15-48787416-G-A FBN1 c.2581C>T p.Arg861* Nonsense 22/66 -
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-C KCNH2 c.1778T>G p.Ile593Arg Missense 7/15 -
12-103245479-C-A PAH c.898G>T p.Ala300Ser Missense 8/13 -
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 -
11-61725631-C-T BEST1 c.728C>T p.Ala243Val Missense 7/11 -
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 -
13-52513266-T-C ATP7B c.3620A>G p.His1207Arg Missense 17/21 -
17-78086721-C-A GAA c.1935C>A p.Asp645Glu Missense 14/20 -
7-150648703-A-G KCNH2 c.1778T>C p.Ile593Thr Missense 7/15 -
17-39780470-A-C KRT17 c.292T>G p.Tyr98Asp Missense 1/8 -
17-41244435-T-G BRCA1 c.3113A>C p.Glu1038Ala Missense 10/23 -
12-50344783-A-C AQP2 c.170A>C p.Gln57Pro Missense 1/4 -
22-42525035-C-G CYP2D6 c.505G>C p.Gly169Arg Missense 3/9 -
1-171173089-G-A FMO2 c.713G>A p.Arg238Gln Missense 6/9 -
5-149361221-A-G SLC26A2 c.2065A>G p.Thr689Ala Missense 3/3 -
7-113518434-C-A PPP1R3A c.2713G>T p.Asp905Tyr Missense 4/4 -
5-149361221-A-T SLC26A2 c.2065A>T p.Thr689Ser Missense 3/3 -
1-171605384-C-A MYOC c.1196G>T p.Gly399Val Missense 3/3 -
3-361508-C-T CHL1 c.49C>T p.Leu17Phe Missense 3/28 -
3-10191507-G-A VHL c.500G>A p.Arg167Gln Missense 3/3 -
13-32953550-G-A BRCA2 c.8851G>A p.Ala2951Thr Missense 22/27 -
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 -
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 -
16-20360316-C-A UMOD c.307G>T p.Gly103Cys Missense 3/11 -
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-T UMOD c.307G>A p.Gly103Ser Missense 3/11 -
7-154862652-C-A HTR5A c.43C>A p.Pro15Thr Missense 1/2 -
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 -
15-48756162-C-G FBN1 c.4999G>C p.Val1667Leu Missense 41/66 -
13-32968940-A-G BRCA2 c.9371A>G p.Asn3124Ser Missense 25/27 -
19-41354629-C-G CYP2A6 c.383G>C p.Arg128Pro 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 -
1-196716319-C-T CFH c.3572C>T p.Ser1191Leu Missense 22/22 -
11-17409199-A-G KCNJ11 c.440T>C p.Leu147Pro Missense 1/1 -
9-21971116-G-A CDKN2A c.242C>T p.Pro81Leu Missense 2/3 -
15-48756162-C-T FBN1 c.4999G>A p.Val1667Ile Missense 41/66 -
22-42525811-T-A CYP2D6 c.281A>T p.His94Leu Missense 2/9 -
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 -
21-44480590-C-G CBS c.1106G>C p.Arg369Pro Missense 12/17 -
17-41245471-C-A BRCA1 c.2077G>T p.Asp693Tyr Missense 10/23 -
1-171076966-G-A FMO3 c.472G>A p.Glu158Lys Missense 4/9 -
10-117849353-T-C GFRA1 c.1081A>G p.Thr361Ala Missense 7/9 -
19-41354629-C-A CYP2A6 c.383G>T p.Arg128Leu Missense 3/9 -
21-35742802-C-G KCNE2 c.25C>G p.Gln9Glu Missense 2/2 -
21-35742802-C-T KCNE2 c.25C>T p.Gln9* Nonsense 2/2 -
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-C CDKN2A c.242C>G p.Pro81Arg Missense 2/3 -
14-75514489-C-G MLH3 c.1870G>C p.Glu624Gln Missense 2/12 -
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-A BRCA1 c.4039A>T p.Arg1347* Nonsense 10/23 -
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 -
10-43620335-C-T RET c.2944C>T p.Arg982Cys Missense 18/20 -
13-32914236-C-T BRCA2 c.5744C>T p.Thr1915Met Missense 11/27 -
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 -
1-160105036-G-A ATP1A2 c.2066G>A p.Arg689Gln Missense 15/23 -
15-80472526-C-T FAH c.1021C>T p.Arg341Trp Missense 12/14 -
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 -
11-61723221-G-C BEST1 c.279G>C p.Trp93Cys Missense 4/11 -
1-242048680-G-A EXO1 c.2276G>A p.Gly759Glu Missense 13/14 -
7-99358459-G-C CYP3A4 c.1396C>G p.Pro466Ala Missense 12/13 -
11-108170506-A-C ATM c.5071A>C p.Ser1691Arg Missense 34/63 -
17-33904464-T-A PEX12 c.273A>T p.Arg91Ser Missense 2/3 -
10-43615094-C-T RET c.2508C>T p.Ser836Ser Synonymous 14/20 -
12-14993909-C-A ART4 c.323G>T p.Gly108Val Missense 2/3 -
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 -
9-100616366-G-A FOXE1 c.170G>A p.Ser57Asn Missense 1/1 -
X-153599369-T-A FLNA c.245A>T p.Glu82Val Missense 2/48 -
18-21115647-T-C NPC1 c.3263A>G p.Tyr1088Cys Missense 22/25 -
14-94845845-C-T SERPINA1 c.1021G>A p.Asp341Asn Missense 4/5 -
13-20763245-T-A GJB2 c.476A>T p.Asp159Val Missense 2/2 -
16-20360316-C-G UMOD c.307G>C p.Gly103Arg Missense 3/11 -
X-153595873-C-T FLNA c.760G>A p.Glu254Lys Missense 5/48 -
3-10188210-T-G VHL c.353T>G p.Leu118Arg Missense 2/3 -
1-156084963-T-G LMNA c.254T>G p.Leu85Arg Missense 1/12 -
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 -
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 -
1-94544234-T-G ABCA4 c.1268A>C p.His423Pro Missense 10/50 -
19-41352941-A-G CYP2A6 c.670T>C p.Ser224Pro Missense 5/9 -
13-108863609-G-A LIG4 c.8C>T p.Ala3Val Missense 2/2 -
16-67516945-C-T AGRP c.199G>A p.Ala67Thr Missense 3/4 -
1-35260769-C-G GJA4 c.955C>G p.Pro319Ala Missense 2/2 -
17-41246061-C-T BRCA1 c.1487G>A p.Arg496His Missense 10/23 -
4-1803571-C-G FGFR3 c.749C>G p.Pro250Arg Missense 7/18 -
4-1803571-C-A FGFR3 c.749C>A p.Pro250Gln Missense 7/18 -
9-131110892-G-A SLC27A4 c.625G>A p.Gly209Ser Missense 4/13 -
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 -
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 -
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-A BRCA1 c.1487G>T p.Arg496Leu Missense 10/23 -
17-54671687-C-G NOG c.103C>G p.Pro35Ala Missense 1/1 -
4-1803571-C-T FGFR3 c.749C>T p.Pro250Leu Missense 7/18 -
2-48018236-G-T MSH6 c.431G>T p.Ser144Ile Missense 2/10 -
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 -
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 -
5-73992881-A-G HEXB c.619A>G p.Ile207Val Missense 5/14 -
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-T SLC19A2 c.515G>A p.Gly172Asp Missense 2/6 -
1-169446685-C-A SLC19A2 c.515G>T p.Gly172Val Missense 2/6 -
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 -
1-156106776-G-T LMNA c.1445G>T p.Arg482Leu Missense 8/12 -
7-80290507-T-C CD36 c.410T>C p.Val137Ala Missense 5/14 -
19-45315445-G-C BCAM c.230G>C p.Arg77Pro Missense 3/15 -
7-117243828-T-C CFTR c.2900T>C p.Leu967Ser Missense 17/27 -
19-45315445-G-A BCAM c.230G>A p.Arg77His 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 -
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 -
17-39768558-A-T KRT16 c.383T>A p.Leu128Gln Missense 1/8 -
17-39780481-C-G KRT17 c.281G>C p.Arg94Pro Missense 1/8 -
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 -
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 -
1-25717308-G-T RHCE c.733C>A p.Leu245Ile Missense 5/10 -
3-37053550-G-A MLH1 c.637G>A p.Val213Met Missense 8/19 -
7-117199643-C-G CFTR c.1518C>G p.Ile506Met Missense 11/27 -
12-110719662-G-A ATP2A2 c.68G>A p.Gly23Glu Missense 1/21 -
11-47359046-G-A MYBPC3 c.2498C>T p.Ala833Val Missense 25/35 -
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 -
7-99366081-A-G CYP3A4 c.566T>C p.Phe189Ser Missense 7/13 -
19-46181392-G-C GIPR c.1060G>C p.Glu354Gln Missense 12/14 -
9-34647187-C-A GALT c.184C>A p.Leu62Met Missense 2/11 -
16-3807895-T-C CREBBP c.3524A>G p.Tyr1175Cys Missense 18/31 -
11-88911386-T-C TYR c.265T>C p.Cys89Arg Missense 1/5 -
10-72358722-T-C PRF1 c.755A>G p.Asn252Ser Missense 3/3 -
16-88714511-C-T CYBA c.70G>A p.Gly24Arg Missense 2/6 -
1-9323910-G-A H6PD c.1358G>A p.Arg453Gln Missense 5/5 -
20-4680378-A-G PRNP c.512A>G p.Asn171Ser Missense 2/2 -
1-9323910-G-C H6PD c.1358G>C p.Arg453Pro Missense 5/5 -
11-27680107-G-A BDNF c.5C>T p.Thr2Ile Missense 1/1 -
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 -
19-5844792-A-T FUT3 c.59T>A p.Leu20Gln Missense 3/3 -
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 -
18-21115443-T-A NPC1 c.3467A>T p.Asn1156Ile Missense 22/25 -
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 -
3-170732300-G-A SLC2A2 c.329C>T p.Thr110Ile Missense 3/11 -
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 -
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 -
22-37333657-C-A CSF2RB c.1807C>A p.Pro603Thr Missense 14/14 -
3-10183770-G-T VHL c.239G>T p.Ser80Ile Missense 1/3 -
9-97912307-T-A FANCC c.584A>T p.Asp195Val Missense 7/15 -
18-21118615-G-A NPC1 c.2932C>T p.Arg978Cys Missense 20/25 -
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 -
21-35742799-A-G KCNE2 c.22A>G p.Thr8Ala Missense 2/2 -
1-97981421-C-T DPYD c.1601G>A p.Ser534Asn Missense 13/23 -
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 -
12-103246666-C-A PAH c.769G>T p.Gly257Cys Missense 7/13 -
17-3402354-C-A ASPA c.914C>A p.Ala305Glu Missense 6/6 -
17-12915009-G-A ELAC2 c.560-1021C>T - IntronicSNV - 6/22
17-12915009-G-C ELAC2 c.560-1021C>G - IntronicSNV - 6/22
17-7577120-C-G TP53 c.818G>C p.Arg273Pro Missense 8/11 -
13-32945108-T-C BRCA2 c.8503T>C p.Ser2835Pro Missense 20/27 -
4-6303606-G-A WFS1 c.2084G>A p.Gly695Asp Missense 8/8 -
4-6303606-G-T WFS1 c.2084G>T p.Gly695Val Missense 8/8 -
11-2188225-T-G TH c.733A>C p.Thr245Pro Missense 7/13 -
8-18080001-G-A NAT1 c.445G>A p.Val149Ile Missense 3/3 -
19-5844043-C-T FUT3 c.808G>A p.Val270Met Missense 3/3 -
14-23894525-C-G MYH7 c.2389G>C p.Ala797Pro Missense 21/40 -
5-172662014-G-A NKX2-5 c.73C>T p.Arg25Cys Missense 1/2 -
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 -
14-23894525-C-A MYH7 c.2389G>T p.Ala797Ser Missense 21/40 -
5-7885907-C-A MTRR c.997C>A p.Leu333Ile Missense 7/15 -
22-51064416-T-C ARSA c.1055A>G p.Asn352Ser Missense 6/8 -
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 -
9-97912307-T-C FANCC c.584A>G p.Asp195Gly Missense 7/15 -
6-49580247-C-T RHAG c.808G>A p.Val270Ile Missense 6/10 -
19-18896846-T-C COMP c.1418A>G p.Asp473Gly Missense 13/19 -
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 -
2-47643457-G-A MSH2 c.965G>A p.Gly322Asp Missense 6/16 -
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 -
17-39780478-A-T KRT17 c.284T>A p.Leu95Gln Missense 1/8 -
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 -
1-19992513-C-T HTR6 c.267C>T p.Tyr89Tyr Synonymous 1/3 -
13-20797357-G-A GJB6 c.263C>T p.Ala88Val Missense 5/5 -
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 -
3-138664793-A-T FOXL2 c.772T>A p.Tyr258Asn Missense 1/1 -
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 -
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 -
7-117267592-G-A CFTR c.3485G>A p.Arg1162Gln Missense 22/27 -
1-216424275-C-G USH2A c.2137G>C p.Gly713Arg Missense 12/21 -
1-216424275-C-T USH2A c.2137G>A p.Gly713Ser Missense 12/21 -
7-117267592-G-T CFTR c.3485G>T p.Arg1162Leu Missense 22/27 -
19-5843784-A-T FUT3 c.1067T>A p.Ile356Lys Missense 3/3 -
3-10191555-C-G VHL c.548C>G p.Ser183Trp Missense 3/3 -
13-32912750-G-T BRCA2 c.4258G>T p.Asp1420Tyr Missense 11/27 -
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 -
12-103246681-G-A PAH c.754C>T p.Arg252Trp Missense 7/13 -
18-12028109-C-T IMPA2 c.558C>T p.Phe186Phe Synonymous 6/8 -
X-100653551-A-T GLA c.806T>A p.Val269Glu Missense 6/7 -
7-142655008-G-C KEL c.578C>G p.Thr193Arg Missense 6/19 -
13-32911295-G-A BRCA2 c.2803G>A p.Asp935Asn Missense 11/27 -
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 -
11-74168361-C-T KCNE3 c.248G>A p.Arg83His Missense 3/3 -
4-100260789-T-A ADH1C c.1048A>T p.Ile350Phe Missense 8/9 -
1-94496053-G-A ABCA4 c.4283C>T p.Thr1428Met Missense 29/50 -
8-31024654-T-C WRN c.4099T>C p.Cys1367Arg Missense 34/35 -
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 -
3-10183725-C-G VHL c.194C>G p.Ser65Trp Missense 1/3 -
21-44480590-C-T CBS c.1106G>A p.Arg369His Missense 12/17 -
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-A VHL c.194C>A p.Ser65* Nonsense 1/3 -
6-78172750-A-C HTR1B c.371T>G p.Phe124Cys Missense 1/1 -
19-17945696-C-T JAK3 c.2164G>A p.Val722Ile Missense 16/24 -
19-5844367-C-T FUT3 c.484G>A p.Asp162Asn Missense 3/3 -
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 -
1-24122692-G-A GALE c.937C>T p.Leu313Leu Synonymous 11/12 -