PMID: 18974781

Cataloging coding sequence variations in human genome databases.

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

1150 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
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 -
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 -
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 -
11-2187923-C-T TH c.917G>A p.Arg306His Missense 8/13 -
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 -
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 -
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-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 -
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 -
22-50964236-G-C TYMP c.1412C>G p.Ser471Trp Missense 10/10 -
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 -
2-38302350-C-T CYP1B1 c.182G>A p.Gly61Glu Missense 2/3 -
10-72358804-G-A PRF1 c.673C>T p.Arg225Trp Missense 3/3 -
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-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 -
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 -
1-25747230-G-C RHCE c.48C>G p.Cys16Trp Missense 1/10 -
9-136220748-C-T SURF1 c.371G>A p.Gly124Glu Missense 5/9 -
2-208992950-G-A CRYGC c.502C>T p.Arg168Trp Missense 3/3 -
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 -
11-32450067-G-T WT1 c.760C>A - missense_variant 2/9 -
11-32450067-G-A WT1 c.760C>T - missense_variant 2/9 -
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 -
15-72643548-C-T HEXA c.598G>A p.Val200Met Missense 6/14 -
19-41597751-C-A CYP2A13 c.769C>A p.Arg257Ser Missense 5/9 -
3-195800811-C-T TFRC c.424G>A p.Gly142Ser Missense 4/19 -
17-19812541-T-C AKAP10 c.1936A>G p.Ile646Val Missense 14/15 -
7-99361626-A-G CYP3A4 c.875T>C p.Leu292Pro Missense 10/13 -
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 -
1-115236057-G-A AMPD1 c.133C>T p.Gln45* Nonsense 2/16 -
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 -
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 -
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 -
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 -
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 -
X-53459034-G-A HSD17B10 c.388C>T p.Arg130Cys Missense 4/6 -
11-2610034-C-G KCNQ1 c.1343C>G p.Pro448Arg Missense 10/16 -
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 -
12-116457651-T-C MED13L c.752A>G p.Glu251Gly Missense 6/31 -
11-2610034-C-A KCNQ1 c.1343C>A p.Pro448Gln Missense 10/16 -
17-39780478-A-T KRT17 c.284T>A p.Leu95Gln Missense 1/8 -
1-94476467-T-A ABCA4 c.5603A>T p.Asn1868Ile Missense 40/50 -
12-52309891-C-A ACVRL1 c.1120C>A p.Arg374Arg Synonymous 8/10 -
12-4479730-G-T FGF23 c.535C>A p.Arg179Arg Synonymous 3/3 -
14-25101589-G-C GZMB c.280C>G p.Pro94Ala Missense 3/5 -
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 -
X-20173553-C-T RPS6KA3 c.2186G>A p.Arg729Gln Missense 22/22 -
X-153297737-G-C MECP2 c.298C>G p.Leu100Val Missense 3/4 -
12-103246593-G-A PAH c.842C>T p.Pro281Leu Missense 7/13 -
12-4479730-G-A FGF23 c.535C>T p.Arg179Trp Missense 3/3 -
17-76867017-C-T TIMP2 c.303G>A p.Ser101Ser Synonymous 3/5 -
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 -
5-131911535-A-T RAD50 c.280A>T p.Ile94Leu Missense 3/25 -
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 -
22-32445946-A-G SLC5A1 c.152A>G p.Asn51Ser Missense 2/15 -
1-94543389-C-T ABCA4 c.1411G>A p.Glu471Lys Missense 11/50 -
12-103234270-C-T PAH c.1223G>A p.Arg408Gln Missense 12/13 -
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 -
15-48905270-G-A FBN1 c.184C>T p.Arg62Cys Missense 3/66 -
1-35250457-C-T GJB3 c.94C>T p.Arg32Trp Missense 2/2 -
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 -
9-21970979-C-G CDKN2A c.379G>C p.Ala127Pro Missense 2/3 -
22-50964236-G-A TYMP c.1412C>T p.Ser471Leu Missense 10/10 -
12-5021221-C-T KCNA1 c.677C>T p.Thr226Met Missense 2/2 -
12-5021221-C-A KCNA1 c.677C>A p.Thr226Lys Missense 2/2 -
19-18896906-T-C COMP c.1358A>G p.Asn453Ser Missense 13/19 -
16-75513128-A-C CHST6 c.599T>G p.Leu200Arg Missense 3/3 -
11-108138045-C-T ATM c.2614C>T p.Pro872Ser Missense 17/63 -
11-108138045-C-A ATM c.2614C>A p.Pro872Thr Missense 17/63 -
7-117199643-C-A CFTR c.1518C>A p.Ile506Ile Synonymous 11/27 -
7-117199643-C-G CFTR c.1518C>G p.Ile506Met Missense 11/27 -
3-57232504-T-C HESX1 c.374A>G p.Asn125Ser Missense 3/4 -
X-100653062-C-T GLA c.1025G>A p.Arg342Gln Missense 7/7 -
11-2790111-C-G KCNQ1 c.1552C>G p.Arg518Gly Missense 12/16 -
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 -
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 -
10-43610119-G-T RET c.2071G>T p.Gly691Cys 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 -
19-41354629-C-T CYP2A6 c.383G>A p.Arg128Gln Missense 3/9 -
12-6127891-C-A VWF c.4693G>T p.Val1565Leu Missense 28/52 -
17-41256266-T-C BRCA1 c.314A>G p.Tyr105Cys Missense 6/23 -
11-95569448-T-C MTMR2 c.1634A>G p.Asn545Ser Missense 14/15 -
X-100653378-G-T GLA c.979C>A p.Gln327Lys Missense 6/7 -
X-100653378-G-A GLA c.979C>T p.Gln327* Nonsense 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 -
2-227661921-C-G IRS1 c.1534G>C p.Ala512Pro Missense 1/2 -
7-142640113-A-G KEL c.1790T>C p.Leu597Pro Missense 17/19 -
17-41244429-C-G BRCA1 c.3119G>C p.Ser1040Thr 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 -
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 -
4-186066117-A-G SLC25A4 c.311A>G p.Asp104Gly Missense 2/4 -
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 -
13-48919246-A-T RB1 c.411A>T p.Glu137Asp Missense 4/27 -
19-5843784-A-T FUT3 c.1067T>A p.Ile356Lys Missense 3/3 -
19-5843784-A-C FUT3 c.1067T>G p.Ile356Arg Missense 3/3 -
18-58039248-G-A MC4R c.335C>T p.Thr112Met Missense 1/1 -
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 -
3-129252554-C-T RHO c.1040C>T p.Pro347Leu Missense 5/5 -
12-103306594-A-G PAH c.143T>C p.Leu48Ser Missense 2/13 -
12-125348263-C-T SCARB1 c.4G>A p.Gly2Ser Missense 1/13 -
20-4680521-G-A PRNP c.655G>A p.Glu219Lys Missense 2/2 -
19-38990637-G-A RYR1 c.7304G>A p.Arg2435His Missense 45/106 -
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 -
4-996555-G-A IDUA c.1225G>A p.Gly409Arg Missense 9/14 -
16-56904031-C-T SLC12A3 c.625C>T p.Arg209Trp Missense 5/26 -
12-48526712-G-A PFKM c.299G>A p.Arg100Gln Missense 5/23 -
7-117307076-C-T CFTR c.4357C>T p.Arg1453Trp Missense 27/27 -
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-A RHO c.1040C>A p.Pro347Gln Missense 5/5 -
3-129252554-C-G RHO c.1040C>G p.Pro347Arg Missense 5/5 -
11-17418527-C-T ABCC8 c.4055G>A p.Arg1352His Missense 33/39 -
12-121177150-C-T ACADS c.1138C>T p.Arg380Trp Missense 10/10 -
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-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 -
12-58158293-C-T CYP27B1 c.1004G>A p.Arg335Gln Missense 6/9 -
7-65547430-C-T ASL c.283C>T p.Arg95Cys Missense 4/17 -
11-66618389-C-A PC c.2229G>T p.Met743Ile Missense 18/23 -
11-88911285-G-A TYR c.164G>A p.Cys55Tyr Missense 1/5 -
11-88911285-G-C TYR c.164G>C p.Cys55Ser Missense 1/5 -
7-6045627-C-A PMS2 c.59G>T p.Arg20Leu Missense 2/15 -
2-227662189-A-G IRS1 c.1266T>C p.Asp422Asp Synonymous 1/2 -
4-6304014-G-A WFS1 c.2492G>A p.Gly831Asp Missense 8/8 -
1-98157332-G-A DPYD c.703C>T p.Arg235Trp Missense 7/23 -
12-14018777-G-T GRIN2B c.366C>A p.Pro122Pro Synonymous 2/13 -
16-89869704-T-C FANCA c.755A>G p.Asp252Gly Missense 8/43 -
16-3304626-C-T MEFV c.442G>A p.Glu148Lys Missense 2/10 -
5-131915673-G-A RAD50 c.671G>A p.Arg224His Missense 5/25 -
7-87079406-T-A ABCB4 c.711A>T p.Ile237Ile Synonymous 8/28 -
21-35821838-C-T KCNE1 c.95G>A p.Arg32His Missense 4/4 -
6-121768420-G-A GJA1 c.427G>A p.Gly143Ser Missense 2/2 -
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 -
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 -
13-20763497-C-T GJB2 c.224G>A p.Arg75Gln Missense 2/2 -
5-121786403-C-G SNCAIP c.763C>G p.Arg255Gly Missense 8/10 -
12-81101832-G-T MYF6 c.334G>T p.Ala112Ser Missense 1/3 -
3-10191569-C-G VHL c.562C>G p.Leu188Val Missense 3/3 -
5-121786403-C-T SNCAIP c.763C>T p.Arg255Cys Missense 8/10 -
3-10191590-C-T VHL c.583C>T p.Gln195* Nonsense 3/3 -
4-187476360-G-A MTNR1A c.160C>T p.Arg54Trp Missense 1/2 -
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 -
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 -
22-51065808-G-A ARSA c.251C>T p.Pro84Leu Missense 2/8 -
22-51063874-G-A ARSA c.1229C>T p.Thr410Ile Missense 8/8 -
8-18080115-C-T NAT1 c.559C>T p.Arg187* Nonsense 3/3 -
9-36217396-A-G GNE c.2135T>C p.Met712Thr Missense 12/12 -
X-100653467-G-A GLA c.890C>T p.Ser297Phe Missense 6/7 -
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 -
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 -
7-117180343-A-C CFTR c.1059A>C p.Gln353His Missense 8/27 -
8-106814279-A-G ZFPM2 c.1969A>G p.Ser657Gly Missense 8/8 -
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 -
12-121177159-C-T ACADS c.1147C>T p.Arg383Cys Missense 10/10 -
X-153599369-T-A FLNA c.245A>T p.Glu82Val Missense 2/48 -
16-89805301-G-C FANCA c.4249C>G p.His1417Asp Missense 42/43 -
7-117199641-A-C CFTR c.1516A>C p.Ile506Leu Missense 11/27 -
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 -
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 -
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 -
19-38937350-G-A RYR1 c.742G>A p.Gly248Arg Missense 9/106 -
2-176959342-C-T HOXD13 c.916C>T p.Arg306Trp Missense 2/2 -
16-89805301-G-A FANCA c.4249C>T p.His1417Tyr Missense 42/43 -
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 -
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 -
17-7578518-C-G TP53 c.412G>C p.Ala138Pro Missense 5/11 -
3-38645249-C-T SCN5A c.1844G>A p.Gly615Glu Missense 12/28 -
2-75116527-G-A HK2 c.2531G>A p.Arg844Lys Missense 17/18 -
17-7912879-C-T GUCY2D c.1724C>T p.Pro575Leu Missense 8/20 -
3-129247749-C-T RHO c.173C>T p.Thr58Met Missense 1/5 -
3-129247749-C-G RHO c.173C>G p.Thr58Arg Missense 1/5 -
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 -
10-81371729-C-G SFTPA1 c.148C>G p.Leu50Val Missense 3/6 -
X-153296815-A-C MECP2 c.464T>G p.Phe155Cys Missense 4/4 -
X-153296815-A-G MECP2 c.464T>C p.Phe155Ser Missense 4/4 -
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 -
6-31324895-G-A HLA-B c.41C>T p.Ser14Leu Missense 1/8 -
13-20763671-G-C GJB2 c.50C>G p.Ser17Cys Missense 2/2 -
17-41244000-T-A BRCA1 c.3548A>T p.Lys1183Ile Missense 10/23 -
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 -
15-48756146-C-G FBN1 c.5015G>C p.Cys1672Ser Missense 41/66 -
14-36986962-G-T NKX2-1 c.637C>A p.Arg213Ser Missense 2/2 -
3-10188201-A-C VHL c.344A>C p.His115Pro Missense 2/3 -
3-10188201-A-G VHL c.344A>G p.His115Arg Missense 2/3 -
1-226016558-G-A EPHX1 c.128G>A p.Arg43Lys Missense 2/9 -
1-226016558-G-C EPHX1 c.128G>C p.Arg43Thr Missense 2/9 -
13-32906593-C-G BRCA2 c.978C>G p.Ser326Arg Missense 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 -
17-41055964-C-T G6PC c.247C>T p.Arg83Cys Missense 2/5 -
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 -
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 -
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 -
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 -
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 -
9-34649442-A-G GALT c.940A>G p.Asn314Asp Missense 10/11 -
20-57484420-C-G GNAS c.601C>G p.Arg201Gly Missense 8/13 -
10-131557525-A-G MGMT c.427A>G p.Ile143Val Missense 5/5 -
17-7577511-A-G TP53 c.770T>C p.Leu257Pro Missense 7/11 -
17-7577511-A-C TP53 c.770T>G p.Leu257Arg Missense 7/11 -
17-41226488-C-A BRCA1 c.4535G>T p.Ser1512Ile Missense 14/23 -
1-53679173-A-C CPT2 c.1883A>C p.Tyr628Ser Missense 5/5 -
17-7577511-A-T TP53 c.770T>A p.Leu257Gln Missense 7/11 -
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-C PAH c.754C>G p.Arg252Gly Missense 7/13 -
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 -
12-57535266-C-A LRP1 c.300C>A p.Asp100Glu Missense 3/89 -
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 -
15-48780418-A-T FBN1 c.3229T>A p.Ser1077Thr Missense 27/66 -
16-2328017-T-G ABCA3 c.4772A>C p.Gln1591Pro Missense 31/33 -
5-149433645-T-A CSF1R c.2906A>T p.Tyr969Phe Missense 22/22 -
22-42525811-T-A CYP2D6 c.281A>T p.His94Leu Missense 2/9 -
3-10183781-G-A VHL c.250G>A p.Val84Met Missense 1/3 -
12-14018777-G-C GRIN2B c.366C>G p.Pro122Pro Synonymous 2/13 -
15-80472526-C-A FAH c.1021C>A p.Arg341Arg Synonymous 12/14 -
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-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 -
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 -
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 -
17-39780470-A-C KRT17 c.292T>G p.Tyr98Asp Missense 1/8 -
22-50962443-C-T SCO2 c.398G>A p.Cys133Tyr Missense 2/2 -
16-83932868-T-C MLYCD c.119T>C p.Met40Thr Missense 1/5 -
3-138664793-A-T FOXL2 c.772T>A p.Tyr258Asn Missense 1/1 -
3-37053550-G-T MLH1 c.637G>T p.Val213Leu Missense 8/19 -
3-37053550-G-A MLH1 c.637G>A p.Val213Met Missense 8/19 -
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 -
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 -
3-10191488-C-G VHL c.481C>G p.Arg161Gly Missense 3/3 -
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 -
8-30915997-C-T WRN c.34C>T p.Gln12* Nonsense 2/35 -
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 -
13-32930673-C-T BRCA2 c.7544C>T p.Thr2515Ile Missense 15/27 -
22-42526763-C-T CYP2D6 c.31G>A p.Val11Met Missense 1/9 -
1-156106776-G-A LMNA c.1445G>A p.Arg482Gln Missense 8/12 -
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 -
5-137206510-C-T MYOT c.170C>T p.Thr57Ile Missense 2/10 -
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 -
12-52824351-C-T KRT75 c.1009G>A p.Glu337Lys Missense 5/9 -
12-121176971-C-T ACADS c.1058C>T p.Ser353Leu Missense 9/10 -
13-32972884-A-G BRCA2 c.10234A>G p.Ile3412Val Missense 27/27 -
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 -
4-141483471-T-A UCP1 c.685A>T p.Met229Leu Missense 5/6 -
14-75516289-G-C MLH3 c.70C>G p.Gln24Glu Missense 2/12 -
10-43615633-C-A RET c.2712C>A p.Ser904Ser Synonymous 15/20 -
7-117232223-C-A CFTR c.2002C>A p.Arg668Ser Missense 14/27 -
2-20205639-G-T MATN3 c.656C>A p.Ala219Asp Missense 2/8 -
1-156104288-A-T LMNA c.608A>T p.Glu203Val Missense 3/12 -
3-10183823-T-C VHL c.292T>C p.Tyr98His Missense 1/3 -
19-36339044-C-T NPHS1 c.1339G>A p.Glu447Lys Missense 11/29 -
12-58157952-G-A CYP27B1 c.1144C>T p.Pro382Ser Missense 7/9 -
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 -
15-48782093-C-T FBN1 c.3037G>A p.Gly1013Arg Missense 25/66 -
14-73673178-A-G PSEN1 c.953A>G p.Glu318Gly Missense 9/12 -
17-42338084-C-T SLC4A1 c.268G>A p.Glu90Lys Missense 5/20 -
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 -
15-48757777-G-T FBN1 c.4930C>A p.Arg1644Arg Synonymous 40/66 -
15-51534995-A-G CYP19A1 c.115T>C p.Trp39Arg Missense 2/10 -
13-47466549-T-C HTR2A c.589A>G p.Ile197Val Missense 3/4 -
1-169519112-C-T F5 c.1538G>A p.Arg513Lys Missense 10/25 -
20-10394008-C-T MKKS c.155G>A p.Gly52Asp Missense 3/6 -
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 -
6-36651971-C-T CDKN1A c.93C>T p.Ser31Ser Synonymous 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 -
3-10191506-C-G VHL c.499C>G p.Arg167Gly Missense 3/3 -
14-37132368-A-G PAX9 c.271A>G p.Lys91Glu Missense 3/5 -
12-58158293-C-G CYP27B1 c.1004G>C p.Arg335Pro Missense 6/9 -
18-58039350-G-A MC4R c.233C>T p.Pro78Leu Missense 1/1 -
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 -
8-143994041-C-T CYP11B2 c.1303G>A p.Gly435Ser Missense 8/9 -
3-170732328-C-T SLC2A2 c.301G>A p.Val101Ile Missense 3/11 -
10-96534922-G-C CYP2C19 c.276G>C p.Glu92Asp Missense 2/9 -
17-39768558-A-G KRT16 c.383T>C p.Leu128Pro Missense 1/8 -
18-58039494-G-A MC4R c.89C>T p.Ser30Phe Missense 1/1 -
4-1807891-G-T FGFR3 c.1950G>T 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 -
13-20763671-G-A GJB2 c.50C>T p.Ser17Phe Missense 2/2 -
11-108160350-C-T ATM c.4258C>T p.Leu1420Phe Missense 29/63 -
10-96534922-G-A CYP2C19 c.276G>A p.Glu92Glu Synonymous 2/9 -
4-1807891-G-C FGFR3 c.1950G>C p.Lys650Asn Missense 14/18 -
17-28576076-T-C BLMH c.1327A>G p.Ile443Val Missense 12/12 -
1-94490595-G-A ABCA4 c.4549C>T p.Arg1517Cys Missense 31/50 -
3-37053562-C-A MLH1 c.649C>A p.Arg217Ser Missense 8/19 -
3-37053562-C-T MLH1 c.649C>T p.Arg217Cys Missense 8/19 -
1-207782856-A-G CR1 c.4768A>G p.Lys1590Glu Missense 29/39 -
15-48782093-C-G FBN1 c.3037G>C p.Gly1013Arg Missense 25/66 -
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-A FBN1 c.4930C>T p.Arg1644* Nonsense 40/66 -
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-T ABCA4 c.4549C>A p.Arg1517Ser Missense 31/50 -
19-46178043-G-T GIPR c.592G>T p.Gly198Cys Missense 7/14 -
6-160663420-T-G SLC22A2 c.1294A>C p.Lys432Gln Missense 8/11 -
1-227076678-A-G PSEN2 c.715A>G p.Met239Val Missense 8/13 -
20-3063745-A-G AVP c.200T>C p.Val67Ala Missense 2/3 -
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 -
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 -
19-45322744-A-G BCAM c.1615A>G p.Thr539Ala Missense 12/15 -
X-153588567-G-A FLNA c.3596C>T p.Ser1199Leu Missense 22/48 -
X-100653522-G-C GLA c.835C>G p.Gln279Glu Missense 6/7 -
1-201047062-G-A CACNA1S c.1564C>T p.Leu522Leu Synonymous 11/44 -
13-33628193-G-T KL c.1109G>T p.Cys370Phe Missense 2/5 -
12-121175742-C-T ACADS c.575C>T p.Ala192Val Missense 5/10 -
10-72358173-G-A PRF1 c.1304C>T p.Thr435Met Missense 3/3 -
4-68606334-T-C GNRHR c.851A>G p.Tyr284Cys Missense 3/3 -
13-32953549-G-A BRCA2 c.8850G>A p.Lys2950Lys Synonymous 22/27 -
3-10183752-T-A VHL c.221T>A p.Val74Asp Missense 1/3 -
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 -
7-44104896-C-G PGAM2 c.233G>C p.Trp78Ser Missense 1/3 -
X-153296860-G-T MECP2 c.419C>A p.Ala140Glu Missense 4/4 -
14-36986976-C-A NKX2-1 c.623G>T p.Trp208Leu Missense 2/2 -
1-183532437-G-A NCF2 c.1183C>T p.Arg395Trp Missense 13/15 -
1-53675866-G-T CPT2 c.520G>T p.Glu174* Nonsense 4/5 -
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 -
17-41246031-CT-CA BRCA1 c.1516_1517delAGinsCA p.Arg506Gln Missense 10/23 -
17-12915009-G-C ELAC2 c.560-1021C>G - IntronicSNV - 6/22
1-226026406-A-T EPHX1 c.416A>T p.His139Leu Missense 4/9 -
10-72358722-T-C PRF1 c.755A>G p.Asn252Ser Missense 3/3 -
7-117180343-A-G CFTR c.1059A>G p.Gln353Gln Synonymous 8/27 -
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 -
10-95557034-A-C LGI1 c.1148A>C p.Glu383Ala Missense 8/8 -
2-241817516-A-G AGXT c.1020A>G p.Ile340Met Missense 10/11 -
12-6457062-T-C SCNN1A c.1987A>G p.Thr663Ala Missense 13/13 -
12-6457062-T-G SCNN1A c.1987A>C p.Thr663Pro Missense 13/13 -
12-58159802-C-T CYP27B1 c.374G>A p.Gly125Glu Missense 2/9 -
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 -
13-33628193-G-C KL c.1109G>C p.Cys370Ser Missense 2/5 -
17-7577559-G-C TP53 c.722C>G p.Ser241Cys Missense 7/11 -
17-7577559-G-T TP53 c.722C>A p.Ser241Tyr Missense 7/11 -
16-223502-C-T HBA2 c.332C>T p.Ala111Val Missense 3/3 -
2-47656972-C-T MSH2 c.1168C>T p.Leu390Phe Missense 7/16 -
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 -
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 -
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 -
4-4861991-G-A MSX1 c.365G>A p.Gly122Glu Missense 1/2 -
18-58038829-C-T MC4R c.754G>A p.Gly252Ser Missense 1/1 -
10-43606856-G-A RET c.1465G>A p.Asp489Asn Missense 7/20 -
X-54482666-C-T FGD1 c.1829G>A p.Arg610Gln Missense 10/18 -
22-42524817-C-T CYP2D6 c.635G>A p.Gly212Glu Missense 4/9 -
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 -
7-150648703-A-T KCNH2 c.1778T>A p.Ile593Lys Missense 7/15 -
16-67470004-G-A HSD11B2 c.623G>A p.Arg208His Missense 3/5 -
11-66619415-C-T PC c.1828G>A p.Ala610Thr Missense 16/23 -
1-197396689-C-A CRB1 c.2234C>A p.Thr745Lys Missense 7/12 -
6-160677669-C-T SLC22A2 c.495G>A p.Met165Ile Missense 2/11 -
17-42328621-G-T SLC4A1 c.2561C>A p.Pro854Gln Missense 19/20 -
17-42328621-G-A SLC4A1 c.2561C>T p.Pro854Leu Missense 19/20 -
13-78477665-G-A EDNRB c.561C>T p.Ile187Ile Synonymous 3/8 -
16-89815152-G-A FANCA c.3263C>T p.Ser1088Phe Missense 33/43 -
X-153762634-G-A G6PD c.653C>T p.Ser218Phe Missense 6/13 -
X-53459058-G-C HSD17B10 c.364C>G p.Leu122Val Missense 4/6 -
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-A PITX2 c.272G>T p.Arg91Leu Missense 2/3 -
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 -
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 -
19-38991294-C-T RYR1 c.7372C>T p.Arg2458Cys Missense 46/106 -
3-10191497-C-G VHL c.490C>G p.Gln164Glu Missense 3/3 -
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 -
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 -
18-13884757-T-C MC2R c.761A>G p.Tyr254Cys Missense 2/2 -
8-27373865-G-A EPHX2 c.860G>A p.Arg287Gln Missense 8/19 -
16-3299468-C-A MEFV c.1223G>T p.Arg408Leu Missense 3/10 -
4-111542459-C-G PITX2 c.272G>C p.Arg91Pro Missense 2/3 -
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 -
13-32893271-A-G BRCA2 c.125A>G p.Tyr42Cys Missense 3/27 -
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 -
1-25717308-G-T RHCE c.733C>A p.Leu245Ile Missense 5/10 -
17-7578479-G-T TP53 c.451C>A p.Pro151Thr Missense 5/11 -
17-7578479-G-C TP53 c.451C>G p.Pro151Ala Missense 5/11 -
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 -
16-27373964-T-C IL4R c.1291T>C p.Cys431Arg Missense 11/11 -
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 -
1-94506901-C-T ABCA4 c.3386G>A p.Arg1129His Missense 23/50 -
19-5844792-A-G FUT3 c.59T>C p.Leu20Pro Missense 3/3 -
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 -
7-117232223-C-T CFTR c.2002C>T p.Arg668Cys Missense 14/27 -
3-48617744-G-A COL7A1 c.5086C>T p.Arg1696Cys Missense 55/118 -
5-7885907-C-A MTRR c.997C>A p.Leu333Ile Missense 7/15 -
5-7885907-C-G MTRR c.997C>G p.Leu333Val 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 -
1-156084878-G-A LMNA c.169G>A p.Ala57Thr Missense 1/12 -
7-99358498-G-A CYP3A4 c.1357C>T p.Leu453Phe Missense 12/13 -
1-156084878-G-C LMNA c.169G>C p.Ala57Pro Missense 1/12 -
1-156084963-T-A LMNA c.254T>A p.Leu85His Missense 1/12 -
15-48773971-T-C FBN1 c.3845A>G p.Asn1282Ser Missense 32/66 -
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 -
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 -
14-37132173-C-T PAX9 c.76C>T p.Arg26Trp Missense 3/5 -
17-41223048-A-G BRCA1 c.4883T>C p.Met1628Thr Missense 15/23 -
13-110435231-C-G IRS2 c.3170G>C p.Gly1057Ala Missense 1/2 -
19-49253814-A-C FUT1 c.725T>G p.Leu242Arg Missense 4/4 -
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 -
3-57232305-G-A HESX1 c.478C>T p.Arg160Cys Missense 4/4 -
2-202072837-C-T CASP10 c.853C>T p.Leu285Phe Missense 8/10 -
11-108122700-T-C ATM c.1744T>C p.Phe582Leu Missense 11/63 -
3-37092025-C-T MLH1 c.2152C>T p.His718Tyr Missense 19/19 -
X-153588687-T-G FLNA c.3476A>C p.Asp1159Ala Missense 22/48 -
3-38648200-C-T SCN5A c.1100G>A p.Arg367His Missense 9/28 -
X-113961355-C-G HTR2C c.10C>G p.Leu4Val Missense 3/6 -
20-47570114-G-A ARFGEF2 c.625G>A p.Glu209Lys Missense 6/39 -
16-75513118-G-T CHST6 c.609C>A p.Asp203Glu Missense 3/3 -
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 -
12-116413092-C-T MED13L c.5615G>A p.Arg1872His Missense 25/31 -
13-78492540-C-T EDNRB c.169G>A p.Gly57Ser Missense 2/8 -
1-94463617-C-T ABCA4 c.6529G>A p.Asp2177Asn Missense 48/50 -
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 -
9-134381604-G-A POMT1 c.226G>A p.Gly76Arg Missense 3/20 -
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 -
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 -
17-39780488-T-G KRT17 c.274A>C p.Asn92His Missense 1/8 -
17-39780488-T-C KRT17 c.274A>G p.Asn92Asp Missense 1/8 -
2-190719179-T-C PMS1 c.1181T>C p.Met394Thr Missense 9/13 -
22-42526670-C-T CYP2D6 c.124G>A p.Gly42Arg Missense 1/9 -
17-41243509-T-C BRCA1 c.4039A>G p.Arg1347Gly Missense 10/23 -
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 -
8-143996539-T-C CYP11B2 c.518A>G p.Lys173Arg Missense 3/9 -
3-10191532-C-G VHL c.525C>G p.Tyr175* Nonsense 3/3 -
10-72358443-G-T PRF1 c.1034C>A p.Pro345His Missense 3/3 -
10-72358443-G-A PRF1 c.1034C>T p.Pro345Leu Missense 3/3 -
22-46615880-T-A PPARA c.680T>A p.Val227Asp Missense 6/8 -
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 -
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 -
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-T VHL c.481C>T p.Arg161* Nonsense 3/3 -
X-46713161-G-T RP2 c.353G>T p.Arg118Leu Missense 2/5 -
X-46713161-G-A RP2 c.353G>A p.Arg118His Missense 2/5 -
1-101196787-G-C VCAM1 c.1238G>C p.Gly413Ala Missense 6/9 -
1-101196787-G-A VCAM1 c.1238G>A p.Gly413Asp Missense 6/9 -
7-117199641-A-G CFTR c.1516A>G p.Ile506Val Missense 11/27 -
13-32937521-G-A BRCA2 c.8182G>A p.Val2728Ile Missense 18/27 -
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 -
7-113518498-C-A PPP1R3A c.2649G>T p.Arg883Ser Missense 4/4 -
12-52309267-G-A ACVRL1 c.1031G>A p.Cys344Tyr Missense 7/10 -
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 -
12-121622304-A-G P2RX7 c.1487A>G p.Glu496Gly Missense 13/13 -
1-171083242-A-G FMO3 c.923A>G p.Glu308Gly Missense 7/9 -
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 -
14-23894525-C-A MYH7 c.2389G>T p.Ala797Ser Missense 21/40 -
3-10191493-C-A VHL c.486C>A p.Cys162* Nonsense 3/3 -
15-48729567-A-G FBN1 c.6331T>C p.Cys2111Arg Missense 52/66 -
15-48779634-T-C FBN1 c.3338A>G p.Asp1113Gly Missense 28/66 -
3-10191493-C-G VHL c.486C>G p.Cys162Trp Missense 3/3 -
11-61724901-T-A BEST1 c.679T>A p.Tyr227Asn Missense 6/11 -
12-103237454-T-C PAH c.1169A>G p.Glu390Gly Missense 11/13 -
11-17436865-G-T ABCC8 c.2277C>A p.Thr759Thr Synonymous 18/39 -
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 -
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 -
11-61726991-C-T BEST1 c.889C>T p.Pro297Ser Missense 8/11 -
12-58159856-C-T CYP27B1 c.320G>A p.Arg107His Missense 2/9 -
18-58039300-C-T MC4R c.283G>A p.Val95Ile Missense 1/1 -
18-58039300-C-A MC4R c.283G>T p.Val95Phe Missense 1/1 -
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 -
X-43817891-T-C NDP c.1A>G p.Met1Val Missense 2/3 -
6-160664685-G-T SLC22A2 c.1198C>A p.Arg400Ser Missense 7/11 -
18-21115443-T-C NPC1 c.3467A>G p.Asn1156Ser Missense 22/25 -
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 -
21-35821913-G-A KCNE1 c.20C>T p.Thr7Ile Missense 4/4 -
7-99358459-G-C CYP3A4 c.1396C>G p.Pro466Ala Missense 12/13 -
10-89468953-G-A PAPSS2 c.28G>A p.Glu10Lys Missense 2/13 -
16-2120572-G-A TSC2 c.1832G>A p.Arg611Gln Missense 17/42 -
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 -
1-201022666-C-T CACNA1S c.3716G>A p.Arg1239His Missense 30/44 -
7-75614973-T-A POR c.1475T>A p.Val492Glu Missense 13/16 -
1-94544234-T-G ABCA4 c.1268A>C p.His423Pro Missense 10/50 -
17-41244130-T-G BRCA1 c.3418A>C p.Ser1140Arg Missense 10/23 -
9-21971108-C-T CDKN2A c.250G>A p.Asp84Asn Missense 2/3 -
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 -
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 -
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 -
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 -
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-A CD38 c.418C>A p.Arg140Arg Synonymous 3/8 -
4-15826558-C-T CD38 c.418C>T p.Arg140Trp Missense 3/8 -
2-47637246-A-G MSH2 c.380A>G p.Asn127Ser Missense 3/16 -
18-58039473-T-A MC4R c.110A>T p.Asp37Val Missense 1/1 -
2-47637246-A-T MSH2 c.380A>T p.Asn127Ile 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 -
X-153761205-C-A G6PD c.1093G>T p.Ala365Ser 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 -
7-154862652-C-T HTR5A c.43C>T p.Pro15Ser Missense 1/2 -
4-6302889-G-A WFS1 c.1367G>A p.Arg456His Missense 8/8 -
3-48896530-T-C SLC25A20 c.713A>G p.Gln238Arg Missense 7/9 -
6-160664685-G-A SLC22A2 c.1198C>T p.Arg400Cys Missense 7/11 -
12-14993882-G-T ART4 c.350C>A p.Thr117Asn Missense 2/3 -
12-14993882-G-A ART4 c.350C>T p.Thr117Ile Missense 2/3 -
1-201029943-C-A CACNA1S c.3257G>T p.Arg1086Leu Missense 26/44 -
1-201029943-C-T CACNA1S c.3257G>A p.Arg1086His Missense 26/44 -
1-161138933-C-T PPOX c.767C>T p.Pro256Leu Missense 7/13 -
1-161138933-C-G PPOX c.767C>G p.Pro256Arg Missense 7/13 -
15-28202743-G-A OCA2 c.1775C>T p.Thr592Ile Missense 16/24 -
1-43804305-G-C MPL c.305G>C p.Arg102Pro Missense 3/12 -
1-43804305-G-A MPL c.305G>A p.Arg102His 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 -
18-58039203-G-A MC4R c.380C>T p.Ser127Leu Missense 1/1 -
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 -
15-48779514-C-T FBN1 c.3458G>A p.Cys1153Tyr Missense 28/66 -
7-117230411-G-C CFTR c.1684G>C p.Val562Leu Missense 13/27 -
1-153653757-G-C NPR1 c.1023G>C p.Met341Ile Missense 3/22 -
3-57232242-T-C HESX1 c.541A>G p.Thr181Ala Missense 4/4 -
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 -
17-39780466-A-G KRT17 c.296T>C p.Leu99Pro Missense 1/8 -
1-156107534-C-T LMNA c.1698C>T p.His566His Synonymous 10/12 -
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 -
7-75615277-G-A POR c.1706G>A p.Cys569Tyr Missense 14/16 -
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 -
9-21971108-C-A CDKN2A c.250G>T p.Asp84Tyr Missense 2/3 -
16-89806477-C-T FANCA c.3859G>A p.Val1287Ile Missense 39/43 -
16-89806477-C-A FANCA c.3859G>T p.Val1287Phe Missense 39/43 -
17-3844345-G-A ATP2A3 c.2020C>T p.Arg674Cys Missense 14/23 -
13-32906593-C-T BRCA2 c.978C>T p.Ser326Ser Synonymous 10/27 -
13-32906593-C-A BRCA2 c.978C>A p.Ser326Arg Missense 10/27 -
13-108863591-G-A LIG4 c.26C>T p.Thr9Ile Missense 2/2 -
17-3397702-C-A ASPA c.693C>A p.Tyr231* Nonsense 5/6 -
X-48385644-G-A EBP c.440G>A p.Arg147His Missense 4/5 -
11-88911737-G-A TYR c.616G>A p.Ala206Thr Missense 1/5 -
19-45316704-T-A BCAM c.611T>A p.Met204Lys Missense 6/15 -
5-131911535-A-C RAD50 c.280A>C p.Ile94Leu Missense 3/25 -
19-18896846-T-C COMP c.1418A>G p.Asp473Gly Missense 13/19 -
19-41349774-A-G CYP2A6 c.1412T>C p.Ile471Thr Missense 9/9 -
1-171168584-C-A FMO2 c.584C>A p.Ser195* Nonsense 5/9 -
X-100653551-A-G GLA c.806T>C p.Val269Ala Missense 6/7 -
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 -
19-41597751-C-T CYP2A13 c.769C>T p.Arg257Cys Missense 5/9 -
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 -
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 -
7-117232642-A-G CFTR c.2421A>G p.Ile807Met Missense 14/27 -
17-3397702-C-T ASPA c.693C>T p.Tyr231Tyr Synonymous 5/6 -
6-137219351-T-A PEX7 c.875T>A p.Leu292* Nonsense 9/10 -
7-113518434-C-A PPP1R3A c.2713G>T p.Asp905Tyr Missense 4/4 -
6-160663420-T-C SLC22A2 c.1294A>G p.Lys432Glu Missense 8/11 -
9-104133461-T-C BAAT c.226A>G p.Met76Val Missense 2/4 -
13-52532469-C-T ATP7B c.2333G>A p.Arg778Gln Missense 8/21 -
3-10183764-A-T VHL c.233A>T p.Asn78Ile Missense 1/3 -
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 -
10-120353843-G-A PRLHR c.914C>T p.Pro305Leu Missense 2/2 -
1-94461717-C-A ABCA4 c.6764G>T p.Ser2255Ile Missense 49/50 -
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 -
11-17418527-C-G ABCC8 c.4055G>C p.Arg1352Pro Missense 33/39 -
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 -
16-67470523-C-T HSD11B2 c.835C>T p.Arg279Cys Missense 5/5 -
1-196716337-T-C CFH c.3590T>C p.Val1197Ala Missense 22/22 -
11-73717247-C-T UCP3 c.304G>A p.Val102Ile Missense 3/7 -
12-103260410-C-G PAH c.473G>C p.Arg158Pro Missense 5/13 -
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 -
18-21115443-T-A NPC1 c.3467A>T p.Asn1156Ile Missense 22/25 -
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-T PMS2 c.59G>A p.Arg20Gln Missense 2/15 -
18-3457439-A-G TGIF1 c.707A>G p.Gln236Arg Missense 3/3 -
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 -
1-183532437-G-C NCF2 c.1183C>G p.Arg395Gly Missense 13/15 -
14-23900677-C-A MYH7 c.746G>T p.Arg249Leu Missense 9/40 -
3-10183739-G-T VHL c.208G>T p.Glu70* Nonsense 1/3 -
7-65554101-A-G ASL c.857A>G p.Gln286Arg Missense 12/17 -
14-37132180-G-A PAX9 c.83G>A p.Arg28His Missense 3/5 -
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 -
21-38309098-A-C HLCS c.647T>G p.Leu216Arg Missense 5/12 -
8-6728298-C-T DEFB1 c.112G>A p.Val38Ile Missense 2/2 -
X-100653467-G-C GLA c.890C>G p.Ser297Cys Missense 6/7 -
13-78475230-C-T EDNRB c.914G>A p.Ser305Asn Missense 5/8 -
19-45322962-A-T BCAM c.1742A>T p.Gln581Leu Missense 13/15 -
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 -
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 -
17-15134248-G-A PMP22 c.469C>T p.Arg157Trp Missense 5/5 -
12-52309891-C-T ACVRL1 c.1120C>T p.Arg374Trp Missense 8/10 -
12-52309898-T-G ACVRL1 c.1127T>G p.Met376Arg Missense 8/10 -
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 -
13-32953550-G-T BRCA2 c.8851G>T p.Ala2951Ser Missense 22/27 -
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 -
16-56913065-T-C SLC12A3 c.1261T>C p.Cys421Arg Missense 10/26 -
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 -
3-10183770-G-T VHL c.239G>T p.Ser80Ile Missense 1/3 -
7-44104896-C-A PGAM2 c.233G>T p.Trp78Leu Missense 1/3 -
3-10183808-G-T VHL c.277G>T p.Gly93Cys Missense 1/3 -
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 -
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 -
11-2591882-G-A KCNQ1 c.502G>A p.Gly168Arg Missense 3/16 -
X-153762655-T-A G6PD c.632A>T p.Asp211Val Missense 6/13 -
X-100653783-T-A GLA c.791A>T p.Asp264Val Missense 5/7 -
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 -
1-242042364-A-C EXO1 c.1828A>C p.Ser610Arg Missense 11/14 -
10-43615094-C-T RET c.2508C>T p.Ser836Ser Synonymous 14/20 -
12-6127833-T-C VWF c.4751A>G p.Tyr1584Cys Missense 28/52 -
1-24124650-T-C GALE c.308A>G p.Asp103Gly Missense 5/12 -
18-58038852-G-T MC4R c.731C>A p.Ala244Glu Missense 1/1 -
1-97544627-C-A DPYD c.2983G>T p.Val995Phe Missense 23/23 -
15-80472526-C-T FAH c.1021C>T p.Arg341Trp Missense 12/14 -
7-99367427-C-T CYP3A4 c.485G>A p.Arg162Gln Missense 6/13 -
19-5832209-G-A FUT6 c.370C>T p.Pro124Ser Missense 3/3 -
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 -
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 -
4-187476360-G-C MTNR1A c.160C>G p.Arg54Gly Missense 1/2 -
11-2604765-C-G KCNQ1 c.1022C>G p.Ala341Gly Missense 7/16 -
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 -
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 -
11-108098576-C-T ATM c.146C>T p.Ser49Phe Missense 3/63 -
1-94487443-C-T ABCA4 c.4732G>A p.Gly1578Arg Missense 33/50 -
11-2790111-C-T KCNQ1 c.1552C>T p.Arg518* Nonsense 12/16 -
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 -
3-361508-C-T CHL1 c.49C>T p.Leu17Phe Missense 3/28 -
17-41244130-T-C BRCA1 c.3418A>G p.Ser1140Gly Missense 10/23 -
7-107350627-G-A SLC26A4 c.2218G>A p.Gly740Ser Missense 19/21 -
7-107350627-G-T SLC26A4 c.2218G>T p.Gly740Cys Missense 19/21 -
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 -
13-52513266-T-C ATP7B c.3620A>G p.His1207Arg Missense 17/21 -
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 -
3-57233870-A-G HESX1 c.77T>C p.Ile26Thr Missense 1/4 -
6-160677669-C-G SLC22A2 c.495G>C p.Met165Ile Missense 2/11 -
11-47361308-C-T MYBPC3 c.1961G>A p.Arg654His Missense 21/35 -
3-10191555-C-T VHL c.548C>T p.Ser183Leu Missense 3/3 -
3-10191555-C-A VHL c.548C>A p.Ser183* Nonsense 3/3 -
17-42334882-C-T SLC4A1 c.1462G>A p.Val488Met Missense 13/20 -
7-117180248-G-A CFTR c.964G>A p.Val322Met Missense 8/27 -
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 -
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 -
7-117144344-C-T CFTR c.91C>T p.Arg31Cys Missense 2/27 -
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 -
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 -
12-103245479-C-A PAH c.898G>T p.Ala300Ser Missense 8/13 -
17-78086721-C-T GAA c.1935C>T p.Asp645Asp Synonymous 14/20 -
11-108098576-C-G ATM c.146C>G p.Ser49Cys Missense 3/63 -
10-43610119-G-C RET c.2071G>C p.Gly691Arg Missense 11/20 -
7-150648703-A-C KCNH2 c.1778T>G p.Ile593Arg Missense 7/15 -
7-150648703-A-G KCNH2 c.1778T>C p.Ile593Thr Missense 7/15 -
1-24124689-C-T GALE c.269G>A p.Gly90Glu Missense 5/12 -
19-5831840-C-T FUT6 c.739G>A p.Glu247Lys Missense 3/3 -
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 -
17-41244435-T-G BRCA1 c.3113A>C p.Glu1038Ala Missense 10/23 -
17-78086721-C-A GAA c.1935C>A p.Asp645Glu Missense 14/20 -
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 -
5-149361221-A-T SLC26A2 c.2065A>T p.Thr689Ser Missense 3/3 -
7-117250575-G-C CFTR c.2991G>C p.Leu997Phe Missense 19/27 -
1-171605384-C-A MYOC c.1196G>T p.Gly399Val Missense 3/3 -
14-88450770-G-A GALC c.550C>T p.Arg184Cys Missense 5/17 -
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 -
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 -
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 -
16-223502-C-A HBA2 c.332C>A p.Ala111Asp Missense 3/3 -
16-20360316-C-G UMOD c.307G>C p.Gly103Arg 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 -
1-196716319-C-T CFH c.3572C>T p.Ser1191Leu Missense 22/22 -
13-32914132-T-G BRCA2 c.5640T>G p.Asn1880Lys Missense 11/27 -
5-1411412-T-C SLC6A3 c.1215A>G p.Ser405Ser Synonymous 9/15 -
17-7577094-G-C TP53 c.844C>G p.Arg282Gly Missense 8/11 -
19-41354629-C-G CYP2A6 c.383G>C p.Arg128Pro Missense 3/9 -
19-41354629-C-A CYP2A6 c.383G>T p.Arg128Leu Missense 3/9 -
8-18080001-G-A NAT1 c.445G>A p.Val149Ile Missense 3/3 -
18-58039301-G-T MC4R c.282C>A p.Ser94Arg Missense 1/1 -
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 -
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 -
10-117849353-T-C GFRA1 c.1081A>G p.Thr361Ala Missense 7/9 -
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 -
11-17409199-A-G KCNJ11 c.440T>C p.Leu147Pro Missense 1/1 -
9-21971116-G-C CDKN2A c.242C>G p.Pro81Arg Missense 2/3 -
9-21971116-G-A CDKN2A c.242C>T p.Pro81Leu Missense 2/3 -
21-44478972-C-T CBS c.1330G>A p.Asp444Asn Missense 14/17 -
15-48756162-C-T FBN1 c.4999G>A p.Val1667Ile Missense 41/66 -
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 -
X-153296882-G-C MECP2 c.397C>G p.Arg133Gly Missense 4/4 -
18-55247336-C-T FECH c.163G>A p.Gly55Ser Missense 2/11 -
X-30326608-C-G NR0B1 c.873G>C p.Trp291Cys Missense 1/2 -
X-153170618-A-T AVPR2 c.19A>T p.Thr7Ser Missense 2/4 -
1-24194748-G-C FUCA1 c.29C>G p.Pro10Arg Missense 1/8 -
7-142655008-G-A KEL c.578C>T p.Thr193Met Missense 6/19 -
10-43620335-C-T RET c.2944C>T p.Arg982Cys Missense 18/20 -
20-34021891-A-G GDF5 c.1322T>C p.Leu441Pro Missense 2/2 -
13-32914236-C-T BRCA2 c.5744C>T p.Thr1915Met Missense 11/27 -
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 -
2-227660781-T-C IRS1 c.2674A>G p.Ser892Gly Missense 1/2 -
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 -
1-171076966-G-A FMO3 c.472G>A p.Glu158Lys Missense 4/9 -
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 -
13-32968940-A-T BRCA2 c.9371A>T p.Asn3124Ile Missense 25/27 -
11-108170506-A-C ATM c.5071A>C p.Ser1691Arg Missense 34/63 -
13-52532509-C-T ATP7B c.2293G>A p.Asp765Asn Missense 8/21 -
12-14993909-C-A ART4 c.323G>T p.Gly108Val Missense 2/3 -
17-33904464-T-A PEX12 c.273A>T p.Arg91Ser Missense 2/3 -
17-48245014-C-T SGCA c.229C>T p.Arg77Cys Missense 3/10 -
9-100616366-G-A FOXE1 c.170G>A p.Ser57Asn Missense 1/1 -
16-20360316-C-T UMOD c.307G>A p.Gly103Ser Missense 3/11 -
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 -
10-95556839-T-G LGI1 c.953T>G p.Phe318Cys Missense 8/8 -
8-57353895-C-T PENK c.740G>A p.Gly247Asp Missense 4/4 -
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 -
X-153595873-C-T FLNA c.760G>A p.Glu254Lys Missense 5/48 -
19-38937350-G-T RYR1 c.742G>T p.Gly248Trp Missense 9/106 -
7-142651354-G-A KEL c.841C>T p.Arg281Trp Missense 8/19 -
9-131110892-G-A SLC27A4 c.625G>A p.Gly209Ser Missense 4/13 -
11-61723297-G-C BEST1 c.355G>C p.Glu119Gln Missense 4/11 -
1-156084963-T-G LMNA c.254T>G p.Leu85Arg Missense 1/12 -
10-81372081-A-G SFTPA1 c.186A>G p.Pro62Pro Synonymous 4/6 -
13-20763573-C-T GJB2 c.148G>A p.Asp50Asn Missense 2/2 -
13-20763573-C-A GJB2 c.148G>T p.Asp50Tyr Missense 2/2 -
1-94544234-T-C ABCA4 c.1268A>G p.His423Arg 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 -
1-43804340-G-A MPL c.340G>A p.Val114Met Missense 3/12 -
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 -
16-67516945-C-T AGRP c.199G>A p.Ala67Thr Missense 3/4 -
1-35260769-C-T GJA4 c.955C>T p.Pro319Ser Missense 2/2 -
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-A BRCA1 c.1487G>T p.Arg496Leu Missense 10/23 -
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 -
17-54671687-C-T NOG c.103C>T p.Pro35Ser Missense 1/1 -
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 -
13-110435231-C-T IRS2 c.3170G>A p.Gly1057Asp Missense 1/2 -
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-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 -
2-71797430-G-T DYSF c.2997G>T p.Trp999Cys Missense 28/55 -
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 -
1-156106776-G-T LMNA c.1445G>T p.Arg482Leu Missense 8/12 -
2-48018236-G-T MSH6 c.431G>T p.Ser144Ile Missense 2/10 -
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 -
3-10183725-C-A VHL c.194C>A p.Ser65* Nonsense 1/3 -
19-15302906-G-A NOTCH3 c.544C>T p.Arg182Cys Missense 4/33 -
2-220439916-G-A INHA c.769G>A p.Ala257Thr Missense 2/2 -
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 -
19-45315445-G-A BCAM c.230G>A p.Arg77His Missense 3/15 -
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 -
7-117243828-T-C CFTR c.2900T>C p.Leu967Ser Missense 17/27 -
17-39780481-C-G KRT17 c.281G>C p.Arg94Pro Missense 1/8 -
17-39780481-C-T KRT17 c.281G>A p.Arg94His Missense 1/8 -
12-6457062-T-A SCNN1A c.1987A>T p.Thr663Ser Missense 13/13 -
7-117230411-G-A CFTR c.1684G>A p.Val562Ile Missense 13/27 -
17-39768558-A-T KRT16 c.383T>A p.Leu128Gln Missense 1/8 -
11-88027331-T-C CTSC c.1235A>G p.Tyr412Cys Missense 7/7 -
17-78086713-G-T GAA c.1927G>T p.Gly643Trp Missense 14/20 -
15-48766790-T-C FBN1 c.4022A>G p.Asn1341Ser Missense 33/66 -
14-24839083-G-A NFATC4 c.479G>A p.Gly160Asp Missense 2/10 -
3-170732328-C-G SLC2A2 c.301G>C p.Val101Leu Missense 3/11 -
7-127894640-G-T LEP c.328G>T p.Val110Leu Missense 3/3 -
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 -
18-58039090-G-A MC4R c.493C>T p.Arg165Trp Missense 1/1 -
14-36986976-C-T NKX2-1 c.623G>A p.Trp208* Nonsense 2/2 -
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 -
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 -
16-3807895-T-C CREBBP c.3524A>G p.Tyr1175Cys Missense 18/31 -
X-107834453-T-G COL4A5 c.1331T>G p.Ile444Ser Missense 20/51 -
16-88714511-C-T CYBA c.70G>A p.Gly24Arg Missense 2/6 -
16-89985940-G-C MC1R c.274G>C p.Val92Leu Missense 1/1 -
9-98211572-T-A PTCH1 c.3583A>T p.Thr1195Ser Missense 22/24 -
1-9323910-G-A H6PD c.1358G>A p.Arg453Gln Missense 5/5 -
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 -
11-27680107-G-T BDNF c.5C>A p.Thr2Asn Missense 1/1 -
20-4680378-A-G PRNP c.512A>G p.Asn171Ser Missense 2/2 -
14-75514420-G-A MLH3 c.1939C>T p.Arg647Cys Missense 2/12 -
22-42523858-T-G CYP2D6 c.971A>C p.His324Pro Missense 6/9 -
11-108128319-A-C ATM c.2362A>C p.Ser788Arg Missense 15/63 -
3-10188200-C-T VHL c.343C>T p.His115Tyr Missense 2/3 -
7-117251695-C-T CFTR c.3200C>T p.Ala1067Val Missense 20/27 -
7-117251695-C-G CFTR c.3200C>G p.Ala1067Gly 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 -
9-97912307-T-A FANCC c.584A>T p.Asp195Val Missense 7/15 -
9-97912307-T-C FANCC c.584A>G p.Asp195Gly Missense 7/15 -
21-44479037-G-A CBS c.1265C>T p.Pro422Leu Missense 14/17 -
X-100613318-T-C BTK c.1082A>G p.Tyr361Cys Missense 12/19 -
13-33628138-T-G KL c.1054T>G p.Phe352Val Missense 2/5 -
19-5844792-A-T FUT3 c.59T>A p.Leu20Gln Missense 3/3 -
19-5844792-A-C FUT3 c.59T>G p.Leu20Arg Missense 3/3 -
1-92941647-T-C GFI1 c.1208A>G p.Lys403Arg Missense 7/7 -
1-196695742-A-G CFH c.2016A>G p.Gln672Gln Synonymous 13/22 -
11-61727002-G-C BEST1 c.900G>C p.Glu300Asp Missense 8/11 -
3-170732300-G-A SLC2A2 c.329C>T p.Thr110Ile Missense 3/11 -
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 -
4-1806153-C-T FGFR3 c.1172C>T p.Ala391Val Missense 9/18 -
12-103246666-C-T PAH c.769G>A p.Gly257Ser Missense 7/13 -
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
18-21118615-G-A NPC1 c.2932C>T p.Arg978Cys Missense 20/25 -
11-2188225-T-G TH c.733A>C p.Thr245Pro Missense 7/13 -
17-7577120-C-G TP53 c.818G>C p.Arg273Pro Missense 8/11 -
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 -
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 -
13-32945108-T-C BRCA2 c.8503T>C p.Ser2835Pro Missense 20/27 -
19-5844043-C-T FUT3 c.808G>A p.Val270Met Missense 3/3 -
5-172662014-G-A NKX2-5 c.73C>T p.Arg25Cys Missense 1/2 -
14-23894525-C-G MYH7 c.2389G>C p.Ala797Pro Missense 21/40 -
14-23894525-C-T MYH7 c.2389G>A p.Ala797Thr Missense 21/40 -
22-51064416-T-C ARSA c.1055A>G p.Asn352Ser Missense 6/8 -
6-49580247-C-T RHAG c.808G>A p.Val270Ile Missense 6/10 -
7-117180336-C-T CFTR c.1052C>T p.Thr351Ile Missense 8/27 -
5-7885907-C-T MTRR c.997C>T p.Leu333Phe Missense 7/15 -
18-58039041-C-T MC4R c.542G>A p.Gly181Asp Missense 1/1 -
3-24164404-G-T THRB c.1357C>A p.Pro453Thr Missense 10/10 -
4-4861877-A-T MSX1 c.251A>T p.Glu84Val Missense 1/2 -
3-10183764-A-G VHL c.233A>G p.Asn78Ser Missense 1/3 -
3-10183764-A-C VHL c.233A>C p.Asn78Thr Missense 1/3 -
X-153296882-G-T MECP2 c.397C>A p.Arg133Ser Missense 4/4 -
7-24324879-T-C NPY c.20T>C p.Leu7Pro Missense 2/4 -
3-121980562-G-A CASR c.680G>A p.Arg227Gln Missense 4/7 -
14-75514489-C-G MLH3 c.1870G>C p.Glu624Gln Missense 2/12 -
17-39780478-A-G KRT17 c.284T>C p.Leu95Pro Missense 1/8 -
5-149433645-T-C CSF1R c.2906A>G p.Tyr969Cys Missense 22/22 -
2-47643457-G-A MSH2 c.965G>A p.Gly322Asp Missense 6/16 -
2-47643457-G-T MSH2 c.965G>T p.Gly322Val 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 -
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 -
X-100653420-C-T GLA c.937G>A p.Asp313Asn Missense 6/7 -
1-216424275-C-G USH2A c.2137G>C p.Gly713Arg Missense 12/21 -
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 -
3-10183725-C-G VHL c.194C>G p.Ser65Trp Missense 1/3 -
3-10188210-T-C VHL c.353T>C p.Leu118Pro Missense 2/3 -
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 -
7-117267592-G-A CFTR c.3485G>A p.Arg1162Gln Missense 22/27 -
22-32487700-G-A SLC5A1 c.1231G>A p.Ala411Thr Missense 11/15 -
11-61723221-G-C BEST1 c.279G>C p.Trp93Cys Missense 4/11 -
3-10191555-C-G VHL c.548C>G p.Ser183Trp 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 -
22-42525811-T-C CYP2D6 c.281A>G p.His94Arg Missense 2/9 -
11-61723221-G-A BEST1 c.279G>A p.Trp93* Nonsense 4/11 -
11-64577506-C-T MEN1 c.76G>A p.Glu26Lys Missense 2/10 -
1-227076678-A-C PSEN2 c.715A>C p.Met239Leu Missense 8/13 -
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 -
12-14982352-G-C ART4 c.898C>G p.Leu300Val Missense 3/3 -
18-12028109-C-T IMPA2 c.558C>T p.Phe186Phe Synonymous 6/8 -
19-5844367-C-T FUT3 c.484G>A p.Asp162Asn Missense 3/3 -
7-142655008-G-C KEL c.578C>G p.Thr193Arg Missense 6/19 -
17-39023053-A-G KRT12 c.386T>C p.Met129Thr Missense 1/8 -
13-33628138-T-A KL c.1054T>A p.Phe352Ile Missense 2/5 -
13-32911295-G-A BRCA2 c.2803G>A p.Asp935Asn Missense 11/27 -
11-74168361-C-T KCNE3 c.248G>A p.Arg83His Missense 3/3 -
17-41258504-A-T BRCA1 c.181T>A p.Cys61Ser Missense 4/23 -
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 -
7-99358498-G-T CYP3A4 c.1357C>A p.Leu453Ile Missense 12/13 -
6-78172750-A-C HTR1B c.371T>G p.Phe124Cys Missense 1/1 -
15-48782144-A-G FBN1 c.2986T>C p.Cys996Arg Missense 25/66 -
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 -
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 -
21-44480590-C-T CBS c.1106G>A p.Arg369His Missense 12/17 -
1-24122692-G-T GALE c.937C>A p.Leu313Met Missense 11/12 -
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 -
6-78172750-A-G HTR1B c.371T>C p.Phe124Ser Missense 1/1 -
19-17945696-C-T JAK3 c.2164G>A p.Val722Ile Missense 16/24 -
13-32912750-G-T BRCA2 c.4258G>T p.Asp1420Tyr Missense 11/27 -
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 -
11-2591882-G-C KCNQ1 c.502G>C p.Gly168Arg Missense 3/16 -
7-99358459-G-A CYP3A4 c.1396C>T p.Pro466Ser Missense 12/13 -
8-143956693-G-A CYP11B1 c.1157C>T p.Ala386Val Missense 7/9 -
8-143956693-G-T CYP11B1 c.1157C>A p.Ala386Glu Missense 7/9 -
16-67470018-C-T HSD11B2 c.637C>T p.Arg213Cys Missense 3/5 -
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 -