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
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 -
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 -
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 -
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 -
16-20360316-C-T UMOD c.307G>A p.Gly103Ser Missense 3/11 -
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 -
1-156084963-T-G LMNA c.254T>G p.Leu85Arg Missense 1/12 -
11-61723297-G-C BEST1 c.355G>C p.Glu119Gln Missense 4/11 -
9-131110892-G-A SLC27A4 c.625G>A p.Gly209Ser Missense 4/13 -
10-81372081-A-G SFTPA1 c.186A>G p.Pro62Pro Synonymous 4/6 -
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-C ABCA4 c.1268A>G p.His423Arg 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 -
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 -
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 -
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 -
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 -
2-220439916-G-A INHA c.769G>A p.Ala257Thr Missense 2/2 -
19-45315445-G-A BCAM c.230G>A p.Arg77His Missense 3/15 -
19-45315445-G-C BCAM c.230G>C p.Arg77Pro Missense 3/15 -
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 -
3-170732328-C-G SLC2A2 c.301G>C p.Val101Leu Missense 3/11 -
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 -
7-117230411-G-A CFTR c.1684G>A p.Val562Ile Missense 13/27 -
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 -
11-88911386-T-C TYR c.265T>C p.Cys89Arg Missense 1/5 -
7-127894640-G-T LEP c.328G>T p.Val110Leu Missense 3/3 -
7-99366081-A-G CYP3A4 c.566T>C p.Phe189Ser Missense 7/13 -
X-107834453-T-G COL4A5 c.1331T>G p.Ile444Ser Missense 20/51 -
16-3807895-T-C CREBBP c.3524A>G p.Tyr1175Cys Missense 18/31 -
1-9323910-G-C H6PD c.1358G>C p.Arg453Pro Missense 5/5 -
16-88714511-C-T CYBA c.70G>A p.Gly24Arg Missense 2/6 -
11-27680107-G-T BDNF c.5C>A p.Thr2Asn Missense 1/1 -
1-9323910-G-A H6PD c.1358G>A p.Arg453Gln Missense 5/5 -
11-27680107-G-A BDNF c.5C>T p.Thr2Ile Missense 1/1 -
20-4680378-A-G PRNP c.512A>G p.Asn171Ser Missense 2/2 -
1-196695742-A-G CFH c.2016A>G p.Gln672Gln Synonymous 13/22 -
14-75514420-G-A MLH3 c.1939C>T p.Arg647Cys Missense 2/12 -
9-98211572-T-A PTCH1 c.3583A>T p.Thr1195Ser Missense 22/24 -
16-89985940-G-C MC1R c.274G>C p.Val92Leu Missense 1/1 -
X-100613318-T-C BTK c.1082A>G p.Tyr361Cys Missense 12/19 -
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 -
11-61727002-G-C BEST1 c.900G>C p.Glu300Asp Missense 8/11 -
11-108128319-A-C ATM c.2362A>C p.Ser788Arg Missense 15/63 -
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 -
7-117251695-C-T CFTR c.3200C>T p.Ala1067Val Missense 20/27 -
3-170732300-G-A SLC2A2 c.329C>T p.Thr110Ile Missense 3/11 -
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 -
5-172662014-G-A NKX2-5 c.73C>T p.Arg25Cys Missense 1/2 -
21-44479037-G-A CBS c.1265C>T p.Pro422Leu Missense 14/17 -
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 -
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 -
10-81373777-C-A SFTPA1 c.655C>A p.Arg219Arg Synonymous 6/6 -
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 -
18-21118615-G-A NPC1 c.2932C>T p.Arg978Cys Missense 20/25 -
13-32945108-T-C BRCA2 c.8503T>C p.Ser2835Pro Missense 20/27 -
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 -
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 -
14-23894525-C-T MYH7 c.2389G>A p.Ala797Thr Missense 21/40 -
1-97981421-C-T DPYD c.1601G>A p.Ser534Asn Missense 13/23 -
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 -
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
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 -
6-49580247-C-T RHAG c.808G>A p.Val270Ile Missense 6/10 -
22-51064416-T-C ARSA c.1055A>G p.Asn352Ser Missense 6/8 -
5-7885907-C-T MTRR c.997C>T p.Leu333Phe Missense 7/15 -
7-117180336-C-T CFTR c.1052C>T p.Thr351Ile Missense 8/27 -
18-58039041-C-T MC4R c.542G>A p.Gly181Asp Missense 1/1 -
4-4861877-A-T MSX1 c.251A>T p.Glu84Val Missense 1/2 -
X-153296882-G-T MECP2 c.397C>A p.Arg133Ser Missense 4/4 -
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 -
7-24324879-T-C NPY c.20T>C p.Leu7Pro Missense 2/4 -
7-117267592-G-A CFTR c.3485G>A p.Arg1162Gln Missense 22/27 -
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 -
12-103234285-G-A PAH c.1208C>T p.Ala403Val Missense 12/13 -
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 -
3-24164404-G-T THRB c.1357C>A p.Pro453Thr Missense 10/10 -
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 -
2-47643457-G-T MSH2 c.965G>T p.Gly322Val Missense 6/16 -
2-38298092-G-A CYP1B1 c.1405C>T p.Arg469Trp Missense 3/3 -
X-100653420-C-T GLA c.937G>A p.Asp313Asn Missense 6/7 -
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-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 -
3-10191555-C-G VHL c.548C>G p.Ser183Trp Missense 3/3 -
22-32487700-G-A SLC5A1 c.1231G>A p.Ala411Thr Missense 11/15 -
1-94487490-A-G ABCA4 c.4685T>C p.Ile1562Thr Missense 33/50 -
17-70118921-C-T SOX9 c.493C>T p.His165Tyr Missense 2/3 -
22-42525811-T-C CYP2D6 c.281A>G p.His94Arg Missense 2/9 -
11-61723221-G-C BEST1 c.279G>C p.Trp93Cys Missense 4/11 -
11-61723221-G-A BEST1 c.279G>A p.Trp93* Nonsense 4/11 -
1-227076678-A-C PSEN2 c.715A>C p.Met239Leu Missense 8/13 -
11-64577506-C-T MEN1 c.76G>A p.Glu26Lys Missense 2/10 -
X-100653551-A-T GLA c.806T>A p.Val269Glu Missense 6/7 -
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 -
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 -
12-14982352-G-C ART4 c.898C>G p.Leu300Val Missense 3/3 -
8-31024654-T-C WRN c.4099T>C p.Cys1367Arg Missense 34/35 -
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 -
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 -
15-48782144-A-G FBN1 c.2986T>C p.Cys996Arg Missense 25/66 -
17-41243840-A-G BRCA1 c.3708T>C p.Asn1236Asn Synonymous 10/23 -
16-89874756-G-A FANCA c.542C>T p.Ala181Val Missense 6/43 -
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 -
1-24122692-G-T GALE c.937C>A p.Leu313Met Missense 11/12 -
21-44480590-C-T CBS c.1106G>A p.Arg369His Missense 12/17 -
1-24122692-G-A GALE c.937C>T p.Leu313Leu Synonymous 11/12 -
3-10183725-C-T VHL c.194C>T p.Ser65Leu Missense 1/3 -
22-42525821-G-T CYP2D6 c.271C>A p.Leu91Met Missense 2/9 -
6-78172750-A-C HTR1B c.371T>G p.Phe124Cys Missense 1/1 -
6-78172750-A-G HTR1B c.371T>C p.Phe124Ser Missense 1/1 -
4-1806638-G-T FGFR3 c.1354G>T p.Ala452Ser Missense 10/18 -
13-32912750-G-T BRCA2 c.4258G>T p.Asp1420Tyr Missense 11/27 -
19-17945696-C-T JAK3 c.2164G>A p.Val722Ile Missense 16/24 -
4-1806638-G-C FGFR3 c.1354G>C p.Ala452Pro Missense 10/18 -
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-A CYP11B1 c.1157C>T p.Ala386Val Missense 7/9 -
16-67470018-C-T HSD11B2 c.637C>T p.Arg213Cys Missense 3/5 -
8-143956693-G-T CYP11B1 c.1157C>A p.Ala386Glu Missense 7/9 -
3-10191540-T-A VHL c.533T>A p.Leu178Gln Missense 3/3 -
3-10191540-T-G VHL c.533T>G p.Leu178Arg Missense 3/3 -
1-171303690-T-C FMO4 c.968T>C p.Val323Ala Missense 8/10 -
1-25747230-G-A RHCE c.48C>T p.Cys16Cys Synonymous 1/10 -
11-2799220-C-T KCNQ1 c.1747C>T p.Arg583Cys Missense 15/16 -
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 -
3-160803746-T-G B3GALNT1 c.797A>C p.Glu266Ala Missense 6/6 -
11-2187923-C-T TH c.917G>A p.Arg306His Missense 8/13 -
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 -
3-183861899-T-C EIF2B5 c.1882T>C p.Trp628Arg Missense 14/16 -
4-4861991-G-T MSX1 c.365G>T p.Gly122Val Missense 1/2 -
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 -
13-77574715-G-A CLN5 c.688G>A - missense_variant 4/4 -
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 -
16-67470018-C-A HSD11B2 c.637C>A p.Arg213Ser Missense 3/5 -
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 -
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 -
9-98997810-C-G HSD17B3 c.865G>C p.Gly289Arg Missense 11/11 -
13-32907129-T-C BRCA2 c.1514T>C p.Ile505Thr Missense 10/27 -
9-98997810-C-T HSD17B3 c.865G>A p.Gly289Ser Missense 11/11 -
13-32913077-G-A BRCA2 c.4585G>A p.Gly1529Arg Missense 11/27 -
9-98997810-C-A HSD17B3 c.865G>T p.Gly289Cys Missense 11/11 -
1-171080080-G-A FMO3 c.769G>A p.Val257Met Missense 6/9 -
2-38302350-C-T CYP1B1 c.182G>A p.Gly61Glu Missense 2/3 -
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 -
10-72358804-G-A PRF1 c.673C>T p.Arg225Trp Missense 3/3 -
17-41245071-G-T BRCA1 c.2477C>A p.Thr826Lys Missense 10/23 -
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 -
1-20915701-A-C CDA c.79A>C p.Lys27Gln Missense 1/4 -
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 -
11-108159732-C-T ATM c.4138C>T p.His1380Tyr Missense 28/63 -
12-121416864-C-T HNF1A c.293C>T p.Ala98Val Missense 1/10 -
2-208992950-G-A CRYGC c.502C>T p.Arg168Trp Missense 3/3 -
9-136220748-C-T SURF1 c.371G>A p.Gly124Glu Missense 5/9 -
11-32450067-G-T WT1 c.760C>A - missense_variant 2/9 -
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-A WT1 c.760C>T - missense_variant 2/9 -
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 -
17-19812541-T-C AKAP10 c.1936A>G p.Ile646Val Missense 14/15 -
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 -
7-99361626-A-G CYP3A4 c.875T>C p.Leu292Pro Missense 10/13 -
11-76867950-G-A MYO7A c.635G>A p.Arg212His Missense 7/49 -
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 -
17-42335888-G-C SLC4A1 c.980C>G p.Pro327Arg Missense 10/20 -
4-996555-G-C IDUA c.1225G>C p.Gly409Arg Missense 9/14 -
3-38648200-C-A SCN5A c.1100G>T p.Arg367Leu Missense 9/28 -
13-32914592-C-T BRCA2 c.6100C>T p.Arg2034Cys Missense 11/27 -
13-32914592-C-A BRCA2 c.6100C>A p.Arg2034Ser Missense 11/27 -
17-42335888-G-T SLC4A1 c.980C>A p.Pro327His Missense 10/20 -
3-46414573-G-T CCR5 c.180G>T p.Arg60Ser Missense 3/3 -
17-42335888-G-A SLC4A1 c.980C>T p.Pro327Leu Missense 10/20 -
1-53675866-G-A CPT2 c.520G>A p.Glu174Lys Missense 4/5 -
3-129251195-A-C RHO c.632A>C p.His211Pro Missense 3/5 -
1-115236057-G-T AMPD1 c.133C>A p.Gln45Lys Missense 2/16 -
1-171168545-T-C FMO2 c.545T>C p.Phe182Ser Missense 5/9 -
1-115236057-G-A AMPD1 c.133C>T p.Gln45* Nonsense 2/16 -
11-2610034-C-T KCNQ1 c.1343C>T p.Pro448Leu Missense 10/16 -
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 -
11-68174189-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 -
11-2610034-C-A KCNQ1 c.1343C>A p.Pro448Gln Missense 10/16 -
12-116457651-T-C MED13L c.752A>G p.Glu251Gly Missense 6/31 -
17-39780478-A-T KRT17 c.284T>A p.Leu95Gln Missense 1/8 -
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 -
X-100653374-C-G GLA c.983G>C p.Gly328Ala Missense 6/7 -
12-52309891-C-A ACVRL1 c.1120C>A p.Arg374Arg Synonymous 8/10 -
12-103246593-G-A PAH c.842C>T p.Pro281Leu Missense 7/13 -
12-4479730-G-T FGF23 c.535C>A p.Arg179Arg Synonymous 3/3 -
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 -
14-25101589-G-C GZMB c.280C>G p.Pro94Ala Missense 3/5 -
1-94476467-T-A ABCA4 c.5603A>T p.Asn1868Ile Missense 40/50 -
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 -
4-6303327-C-T WFS1 c.1805C>T p.Ala602Val Missense 8/8 -
4-6303668-G-A WFS1 c.2146G>A p.Ala716Thr Missense 8/8 -
11-88911246-A-G TYR c.125A>G p.Asp42Gly Missense 1/5 -
X-48542363-C-T WAS c.121C>T p.Arg41* Nonsense 1/12 -
5-78135241-C-T ARSB c.1151G>A p.Ser384Asn Missense 6/8 -
12-5021221-C-A KCNA1 c.677C>A p.Thr226Lys Missense 2/2 -
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 -
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 -
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 -
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 -
16-75513206-T-C CHST6 c.521A>G p.Lys174Arg Missense 3/3 -
19-18896906-T-C COMP c.1358A>G p.Asn453Ser Missense 13/19 -
1-35250457-C-T GJB3 c.94C>T p.Arg32Trp Missense 2/2 -
16-75513128-A-C CHST6 c.599T>G p.Leu200Arg Missense 3/3 -
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 -
1-197396689-C-G CRB1 c.2234C>G p.Thr745Arg Missense 7/12 -
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 -
11-2790111-C-G KCNQ1 c.1552C>G p.Arg518Gly Missense 12/16 -
X-100653062-C-T GLA c.1025G>A p.Arg342Gln Missense 7/7 -
1-197396689-C-T CRB1 c.2234C>T p.Thr745Met Missense 7/12 -
15-48905270-G-A FBN1 c.184C>T p.Arg62Cys Missense 3/66 -
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 -
1-156084887-C-G LMNA c.178C>G p.Arg60Gly Missense 1/12 -
1-156084887-C-T LMNA c.178C>T p.Arg60Cys Missense 1/12 -
10-43610119-G-T RET c.2071G>T p.Gly691Cys Missense 11/20 -
19-36322601-T-C NPHS1 c.3230A>G p.Asn1077Ser Missense 24/29 -
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 -
12-6127891-C-A VWF c.4693G>T p.Val1565Leu Missense 28/52 -
19-41354629-C-T CYP2A6 c.383G>A p.Arg128Gln Missense 3/9 -
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-A GLA c.979C>T p.Gln327* Nonsense 6/7 -
16-20360180-C-T UMOD c.443G>A p.Cys148Tyr Missense 3/11 -
X-100653378-G-T GLA c.979C>A p.Gln327Lys Missense 6/7 -
3-138665314-A-C FOXL2 c.251T>G p.Ile84Ser Missense 1/1 -
13-20763380-T-C GJB2 c.341A>G p.Glu114Gly Missense 2/2 -
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 -
1-156104620-C-T LMNA c.664C>T p.His222Tyr Missense 4/12 -
7-142640113-A-G KEL c.1790T>C p.Leu597Pro Missense 17/19 -
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 -
2-227661921-C-G IRS1 c.1534G>C p.Ala512Pro Missense 1/2 -
19-15302945-G-A NOTCH3 c.505C>T p.Arg169Cys Missense 4/33 -
22-50962330-G-A SCO2 c.511C>T p.Arg171Trp Missense 2/2 -
13-48919246-A-T RB1 c.411A>T p.Glu137Asp Missense 4/27 -
19-5843784-A-C FUT3 c.1067T>G p.Ile356Arg Missense 3/3 -
19-5843784-A-T FUT3 c.1067T>A p.Ile356Lys Missense 3/3 -
18-58039221-A-G MC4R c.362T>C p.Ile121Thr Missense 1/1 -
11-64577506-C-A MEN1 c.76G>T p.Glu26* Nonsense 2/10 -
12-125348263-C-T SCARB1 c.4G>A p.Gly2Ser Missense 1/13 -
3-129252554-C-T RHO c.1040C>T p.Pro347Leu Missense 5/5 -
19-38990637-G-T RYR1 c.7304G>T p.Arg2435Leu Missense 45/106 -
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 -
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 -
12-121177150-C-T ACADS c.1138C>T p.Arg380Trp Missense 10/10 -
7-117149147-G-A CFTR c.224G>A p.Arg75Gln Missense 3/27 -
7-65547430-C-T ASL c.283C>T p.Arg95Cys Missense 4/17 -
12-58158293-C-T CYP27B1 c.1004G>A p.Arg335Gln Missense 6/9 -
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 -
12-103288666-A-G PAH c.199T>C p.Ser67Pro Missense 3/13 -
18-58039248-G-A MC4R c.335C>T p.Thr112Met Missense 1/1 -
12-103306594-A-G PAH c.143T>C p.Leu48Ser Missense 2/13 -
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 -
17-36099446-G-A HNF1B c.529C>T p.Arg177* Nonsense 2/9 -
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 -
11-17418527-C-T ABCC8 c.4055G>A p.Arg1352His Missense 33/39 -
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 -
4-6304014-G-C WFS1 c.2492G>C p.Gly831Ala Missense 8/8 -
2-227662189-A-G IRS1 c.1266T>C p.Asp422Asp Synonymous 1/2 -
7-6045627-C-A PMS2 c.59G>T p.Arg20Leu Missense 2/15 -
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 -
16-89869704-T-C FANCA c.755A>G p.Asp252Gly Missense 8/43 -
5-131915673-G-A RAD50 c.671G>A p.Arg224His Missense 5/25 -
16-3304626-C-T MEFV c.442G>A p.Glu148Lys Missense 2/10 -
2-176959342-C-G HOXD13 c.916C>G p.Arg306Gly Missense 2/2 -
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 -
1-171076888-G-T FMO3 c.394G>T p.Asp132Tyr Missense 4/9 -
6-121768420-G-A GJA1 c.427G>A p.Gly143Ser Missense 2/2 -
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 -
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 -
1-161140257-A-C PPOX c.1046A>C p.Asp349Ala Missense 10/13 -
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 -
12-81101832-G-T MYF6 c.334G>T p.Ala112Ser Missense 1/3 -
22-51065808-G-A ARSA c.251C>T p.Pro84Leu Missense 2/8 -
3-129247734-C-G RHO c.158C>G p.Pro53Arg Missense 1/5 -
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 -
13-48955458-C-A RB1 c.1574C>A p.Ala525Asp Missense 17/27 -
1-171076888-G-C FMO3 c.394G>C p.Asp132His Missense 4/9 -
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 -
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 -
22-51063874-G-A ARSA c.1229C>T p.Thr410Ile Missense 8/8 -
7-117180343-A-C CFTR c.1059A>C p.Gln353His Missense 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 -
1-160105300-T-C ATP1A2 c.2192T>C p.Met731Thr Missense 16/23 -
19-15299815-A-G NOTCH3 c.1363T>C p.Cys455Arg Missense 8/33 -
8-18080115-C-T NAT1 c.559C>T p.Arg187* Nonsense 3/3 -
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 -
17-7127707-G-A ACADVL c.1600G>A p.Glu534Lys Missense 16/20 -
7-117199641-A-C CFTR c.1516A>C p.Ile506Leu Missense 11/27 -
5-142780337-C-G NR3C1 c.68G>C p.Arg23Thr Missense 2/9 -
5-142780337-C-T NR3C1 c.68G>A p.Arg23Lys Missense 2/9 -
11-108124761-T-C ATM c.2119T>C p.Ser707Pro Missense 13/63 -
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 -
16-27373872-A-G IL4R c.1199A>G p.Glu400Gly Missense 11/11 -
15-52643564-G-A MYO5A c.3736C>T p.Arg1246Cys Missense 28/41 -
X-37587260-T-C XK c.880T>C p.Cys294Arg Missense 3/3 -
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 -
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 -
3-10191578-C-G VHL c.571C>G p.His191Asp Missense 3/3 -
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 -
2-176959390-A-G HOXD13 c.964A>G p.Ile322Val 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 -
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 -
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 -
13-32937521-G-C BRCA2 c.8182G>C p.Val2728Leu Missense 18/27 -
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 -
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 -
22-42276825-G-A SREBF2 c.1867G>A p.Val623Met Missense 10/19 -
6-31324895-G-T HLA-B c.41C>A p.Ser14* Nonsense 1/8 -
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 -
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 -
7-155604726-C-T SHH c.91G>A p.Gly31Arg Missense 1/3 -
13-32906593-C-G BRCA2 c.978C>G p.Ser326Arg Missense 10/27 -
18-58039478-G-T MC4R c.105C>A p.Tyr35* Nonsense 1/1 -
15-76578762-G-A ETFA c.512C>T p.Thr171Ile Missense 6/12 -
4-187455426-G-A MTNR1A c.470C>T p.Ala157Val Missense 2/2 -
17-41055964-C-T G6PC c.247C>T p.Arg83Cys Missense 2/5 -
13-20763186-C-T GJB2 c.535G>A p.Asp179Asn Missense 2/2 -
13-20763186-C-A GJB2 c.535G>T p.Asp179Tyr Missense 2/2 -
13-20763186-C-G GJB2 c.535G>C p.Asp179His Missense 2/2 -
14-23900677-C-T MYH7 c.746G>A p.Arg249Gln Missense 9/40 -
4-52895065-G-C SGCB c.452C>G p.Thr151Arg Missense 4/6 -
15-48737664-G-T FBN1 c.5826C>A p.Cys1942* Nonsense 48/66 -
12-53298582-C-A KRT8 c.184G>T p.Gly62Cys Missense 1/8 -
3-10183770-G-A VHL c.239G>A p.Ser80Asn Missense 1/3 -
3-10183808-G-A VHL c.277G>A p.Gly93Ser Missense 1/3 -
3-10183808-G-C VHL c.277G>C p.Gly93Arg Missense 1/3 -
9-34649442-A-G GALT c.940A>G p.Asn314Asp Missense 10/11 -
17-7577511-A-G TP53 c.770T>C p.Leu257Pro Missense 7/11 -
7-117120179-G-A CFTR c.31G>A p.Val11Ile Missense 1/27 -
12-103246681-G-C PAH c.754C>G p.Arg252Gly Missense 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 -
1-53679173-A-C CPT2 c.1883A>C p.Tyr628Ser Missense 5/5 -
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-T TP53 c.770T>A p.Leu257Gln 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 -
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-C CFTR c.31G>C p.Val11Leu Missense 1/27 -
12-103246681-G-T PAH c.754C>A p.Arg252Arg Synonymous 7/13 -
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 -
16-2328017-T-G ABCA3 c.4772A>C p.Gln1591Pro Missense 31/33 -
22-42525811-T-A CYP2D6 c.281A>T p.His94Leu Missense 2/9 -
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 -
12-14018777-G-C GRIN2B c.366C>G p.Pro122Pro Synonymous 2/13 -
12-121175678-C-T ACADS c.511C>T p.Arg171Trp Missense 5/10 -
17-39768579-A-T KRT16 c.362T>A p.Met121Lys Missense 1/8 -
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 -
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 -
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 -
X-10417535-A-G MID1 c.1877T>C p.Leu626Pro Missense 10/10 -
14-23884230-G-A MYH7 c.5533C>T p.Arg1845Trp Missense 37/40 -
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 -
3-138664793-A-T FOXL2 c.772T>A p.Tyr258Asn Missense 1/1 -
16-83932868-T-C MLYCD c.119T>C p.Met40Thr Missense 1/5 -
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 -
13-32972884-A-G BRCA2 c.10234A>G p.Ile3412Val Missense 27/27 -
3-10188219-A-G VHL c.362A>G p.Asp121Gly Missense 2/3 -
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 -
8-30915997-C-T WRN c.34C>T p.Gln12* Nonsense 2/35 -
6-31828365-C-T NEU1 c.649G>A p.Val217Met Missense 4/6 -
12-52308229-G-A ACVRL1 c.632G>A p.Gly211Asp Missense 6/10 -
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 -
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 -
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 -
1-156106776-G-A LMNA c.1445G>A p.Arg482Gln Missense 8/12 -
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 -
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 -
5-137206510-C-T MYOT c.170C>T p.Thr57Ile Missense 2/10 -
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 -
14-75514863-T-C MLH3 c.1496A>G p.Asn499Ser Missense 2/12 -
1-156104288-A-T LMNA c.608A>T p.Glu203Val Missense 3/12 -
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 -
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 -
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 -
12-58157952-G-A CYP27B1 c.1144C>T p.Pro382Ser Missense 7/9 -
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 -
14-73673178-A-G PSEN1 c.953A>G p.Glu318Gly Missense 9/12 -
15-48782093-C-T FBN1 c.3037G>A p.Gly1013Arg Missense 25/66 -
17-42338084-C-T SLC4A1 c.268G>A p.Glu90Lys Missense 5/20 -
15-51534995-A-G CYP19A1 c.115T>C p.Trp39Arg Missense 2/10 -
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 -
10-43615633-C-G RET c.2712C>G p.Ser904Ser Synonymous 15/20 -
1-169519112-C-T F5 c.1538G>A p.Arg513Lys Missense 10/25 -
13-47466549-T-C HTR2A c.589A>G p.Ile197Val Missense 3/4 -
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 -
20-10394008-C-T MKKS c.155G>A p.Gly52Asp Missense 3/6 -
X-55047554-T-A ALAS2 c.569A>T p.Asp190Val Missense 5/11 -
6-36651971-C-T CDKN1A c.93C>T p.Ser31Ser Synonymous 3/4 -
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 -
3-170732328-C-T SLC2A2 c.301G>A p.Val101Ile Missense 3/11 -
8-143994041-C-T CYP11B2 c.1303G>A p.Gly435Ser Missense 8/9 -
11-17419279-C-T ABCC8 c.3819G>A p.Arg1273Arg Synonymous 31/39 -
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-C CYP2C19 c.276G>C p.Glu92Asp Missense 2/9 -
10-96534922-G-A CYP2C19 c.276G>A p.Glu92Glu Synonymous 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 -
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 -
15-48782093-C-G FBN1 c.3037G>C p.Gly1013Arg Missense 25/66 -
17-28576076-T-C BLMH c.1327A>G p.Ile443Val Missense 12/12 -
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 -
6-160663420-T-G SLC22A2 c.1294A>C p.Lys432Gln Missense 8/11 -
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 -
17-7918017-G-C GUCY2D c.2511G>C p.Glu837Asp Missense 13/20 -
15-48757777-G-A FBN1 c.4930C>T p.Arg1644* Nonsense 40/66 -
1-94490595-G-A ABCA4 c.4549C>T p.Arg1517Cys Missense 31/50 -
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 -
1-227076678-A-G PSEN2 c.715A>G p.Met239Val Missense 8/13 -
X-153588567-G-A FLNA c.3596C>T p.Ser1199Leu Missense 22/48 -
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 -
17-39780499-A-T KRT17 c.263T>A p.Met88Lys Missense 1/8 -
20-3063745-A-G AVP c.200T>C p.Val67Ala Missense 2/3 -
19-45322744-A-G BCAM c.1615A>G p.Thr539Ala Missense 12/15 -
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 -
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 -
4-68606334-T-C GNRHR c.851A>G p.Tyr284Cys Missense 3/3 -
12-121175742-C-T ACADS c.575C>T p.Ala192Val Missense 5/10 -
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 -
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 -
14-36986976-C-A NKX2-1 c.623G>T p.Trp208Leu Missense 2/2 -
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 -
1-53675866-G-T CPT2 c.520G>T p.Glu174* Nonsense 4/5 -
1-183532437-G-A NCF2 c.1183C>T p.Arg395Trp Missense 13/15 -
2-176959373-C-A HOXD13 c.947C>A p.Ser316Tyr Missense 2/2 -
2-176959373-C-G HOXD13 c.947C>G p.Ser316Cys Missense 2/2 -
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 -
17-12915009-G-C ELAC2 c.560-1021C>G - IntronicSNV - 6/22
10-95557034-A-C LGI1 c.1148A>C p.Glu383Ala Missense 8/8 -
1-226026406-A-T EPHX1 c.416A>T p.His139Leu Missense 4/9 -
7-117180343-A-G CFTR c.1059A>G p.Gln353Gln Synonymous 8/27 -
10-72358722-T-C PRF1 c.755A>G p.Asn252Ser Missense 3/3 -
1-171607843-G-A MYOC c.624C>T p.Asp208Asp Synonymous 2/3 -
17-79767715-G-A GCGR c.118G>A p.Gly40Ser Missense 3/14 -
2-241817516-A-G AGXT c.1020A>G p.Ile340Met Missense 10/11 -
12-6457062-T-C SCNN1A c.1987A>G p.Thr663Ala Missense 13/13 -
12-6457062-T-G SCNN1A c.1987A>C p.Thr663Pro Missense 13/13 -
1-171607843-G-C MYOC c.624C>G p.Asp208Glu Missense 2/3 -
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 -
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 -
X-153588601-C-T FLNA c.3562G>A p.Ala1188Thr Missense 22/48 -
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 -
16-223502-C-T HBA2 c.332C>T p.Ala111Val Missense 3/3 -
3-10183752-T-G VHL c.221T>G p.Val74Gly Missense 1/3 -
16-30913528-G-A CTF1 c.274G>A p.Ala92Thr Missense 3/3 -
3-10183752-T-C VHL c.221T>C p.Val74Ala Missense 1/3 -
2-47656972-C-T MSH2 c.1168C>T p.Leu390Phe Missense 7/16 -
2-47656972-C-G MSH2 c.1168C>G p.Leu390Val Missense 7/16 -
4-4861991-G-A MSX1 c.365G>A p.Gly122Glu Missense 1/2 -
4-6303618-C-T WFS1 c.2096C>T p.Thr699Met Missense 8/8 -
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 -
16-2156600-G-A PKD1 c.7288C>T p.Arg2430* Nonsense 18/46 -
2-169847329-T-C ABCB11 c.890A>G p.Glu297Gly Missense 9/28 -
3-10188264-T-C VHL c.407T>C p.Phe136Ser Missense 2/3 -
3-10188264-T-G VHL c.407T>G p.Phe136Cys Missense 2/3 -
22-42524817-C-T CYP2D6 c.635G>A p.Gly212Glu Missense 4/9 -
16-67470004-G-A HSD11B2 c.623G>A p.Arg208His Missense 3/5 -
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 -
7-150648703-A-T KCNH2 c.1778T>A p.Ile593Lys Missense 7/15 -
16-89815152-G-A FANCA c.3263C>T p.Ser1088Phe Missense 33/43 -
13-78477665-G-A EDNRB c.561C>T p.Ile187Ile Synonymous 3/8 -
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 -
4-111542459-C-T PITX2 c.272G>A p.Arg91Gln 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 -
20-43255220-T-C ADA c.239A>G p.Lys80Arg Missense 4/12 -
4-111542459-C-A PITX2 c.272G>T p.Arg91Leu 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-T VHL c.490C>T p.Gln164* Nonsense 3/3 -
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 -
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 -
13-32893271-A-G BRCA2 c.125A>G p.Tyr42Cys Missense 3/27 -
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 -
15-48773971-T-C FBN1 c.3845A>G p.Asn1282Ser Missense 32/66 -
17-78086713-G-A GAA c.1927G>A p.Gly643Arg Missense 14/20 -
7-117250664-T-C CFTR c.3080T>C p.Ile1027Thr Missense 19/27 -
19-41349750-C-A CYP2A6 c.1436G>T p.Gly479Val Missense 9/9 -
1-25717308-G-T RHCE c.733C>A p.Leu245Ile Missense 5/10 -
3-48617744-G-A COL7A1 c.5086C>T p.Arg1696Cys Missense 55/118 -
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 -
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 -
7-99358498-G-A CYP3A4 c.1357C>T p.Leu453Phe Missense 12/13 -
1-35250464-T-C GJB3 c.101T>C p.Leu34Pro Missense 2/2 -
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 -
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 -
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 -
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 -
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 -
1-25627552-C-G RHD c.602C>G p.Thr201Arg Missense 4/10 -
17-41223048-A-G BRCA1 c.4883T>C p.Met1628Thr Missense 15/23 -
19-49253814-A-C FUT1 c.725T>G p.Leu242Arg Missense 4/4 -
3-48609451-C-T COL7A1 c.7051G>A p.Gly2351Arg Missense 91/118 -
16-3299586-G-T MEFV c.1105C>A p.Pro369Thr Missense 3/10 -
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 -
3-38648200-C-T SCN5A c.1100G>A p.Arg367His Missense 9/28 -
3-37092025-C-T MLH1 c.2152C>T p.His718Tyr Missense 19/19 -
16-75513118-G-T CHST6 c.609C>A p.Asp203Glu Missense 3/3 -
14-37132159-T-C PAX9 c.62T>C p.Leu21Pro Missense 3/5 -
13-110435231-C-G IRS2 c.3170G>C p.Gly1057Ala Missense 1/2 -
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 -
20-47570114-G-A ARFGEF2 c.625G>A p.Glu209Lys Missense 6/39 -
17-41222975-C-T BRCA1 c.4956G>A p.Met1652Ile Missense 15/23 -
12-116413092-C-T MED13L c.5615G>A p.Arg1872His Missense 25/31 -
1-94463617-C-T ABCA4 c.6529G>A p.Asp2177Asn Missense 48/50 -
8-143996516-G-T CYP11B2 c.541C>A p.Arg181Arg Synonymous 3/9 -
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 -
13-78492540-C-T EDNRB c.169G>A p.Gly57Ser Missense 2/8 -
17-7577538-C-G TP53 c.743G>C p.Arg248Pro Missense 7/11 -
8-143996516-G-A CYP11B2 c.541C>T p.Arg181Trp Missense 3/9 -
3-10183811-G-A VHL c.280G>A p.Glu94Lys Missense 1/3 -
19-18893939-G-T COMP c.2152C>A p.Arg718Arg Synonymous 18/19 -
9-134381604-G-A POMT1 c.226G>A p.Gly76Arg Missense 3/20 -
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 -
17-39780488-T-C KRT17 c.274A>G p.Asn92Asp Missense 1/8 -
17-39780488-T-G KRT17 c.274A>C p.Asn92His Missense 1/8 -
2-190719179-T-C PMS1 c.1181T>C p.Met394Thr Missense 9/13 -
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 -
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 -
17-79478104-G-A ACTG1 c.833C>T p.Thr278Ile Missense 5/6 -
11-111958677-A-G SDHD c.149A>G p.His50Arg Missense 2/4 -
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 -
22-42526670-C-T CYP2D6 c.124G>A p.Gly42Arg Missense 1/9 -
3-10191532-C-G VHL c.525C>G p.Tyr175* Nonsense 3/3 -
17-7127184-G-A ACADVL c.1322G>A p.Gly441Asp Missense 13/20 -
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-C ACADVL c.1322G>C p.Gly441Ala Missense 13/20 -
15-48780418-A-G FBN1 c.3229T>C p.Ser1077Pro Missense 27/66 -
4-6303668-G-C WFS1 c.2146G>C p.Ala716Pro Missense 8/8 -
1-25628043-T-G RHD c.667T>G p.Phe223Val Missense 5/10 -
11-36597018-G-A RAG1 c.2164G>A p.Glu722Lys Missense 2/2 -
1-101196787-G-A VCAM1 c.1238G>A p.Gly413Asp Missense 6/9 -
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 -
7-117199641-A-G CFTR c.1516A>G p.Ile506Val Missense 11/27 -
16-27373872-A-C IL4R c.1199A>C p.Glu400Ala Missense 11/11 -
X-153296860-G-A MECP2 c.419C>T p.Ala140Val Missense 4/4 -
15-48797335-T-C FBN1 c.1847A>G p.Glu616Gly Missense 16/66 -
13-32937521-G-A BRCA2 c.8182G>A p.Val2728Ile Missense 18/27 -
X-46719498-C-T RP2 c.844C>T p.Arg282Trp Missense 3/5 -
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 -
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 -
3-10191493-C-A VHL c.486C>A p.Cys162* Nonsense 3/3 -
14-23894525-C-A MYH7 c.2389G>T p.Ala797Ser Missense 21/40 -
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 -
7-113518498-C-A PPP1R3A c.2649G>T p.Arg883Ser Missense 4/4 -
3-10191493-C-G VHL c.486C>G p.Cys162Trp Missense 3/3 -
15-48779634-T-C FBN1 c.3338A>G p.Asp1113Gly Missense 28/66 -
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 -
X-43817891-T-C NDP c.1A>G p.Met1Val Missense 2/3 -
1-160105635-T-C ATP1A2 c.2291T>C p.Leu764Pro Missense 17/23 -
12-58159856-C-T CYP27B1 c.320G>A p.Arg107His Missense 2/9 -
18-58039300-C-A MC4R c.283G>T p.Val95Phe Missense 1/1 -
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 -
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 -
15-48729567-A-G FBN1 c.6331T>C p.Cys2111Arg Missense 52/66 -
3-10183811-G-T VHL c.280G>T p.Glu94* Nonsense 1/3 -
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-T MC4R c.283G>A p.Val95Ile Missense 1/1 -
11-61726991-C-T BEST1 c.889C>T p.Pro297Ser Missense 8/11 -
11-61726991-C-G BEST1 c.889C>G p.Pro297Ala Missense 8/11 -
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 -
6-160664685-G-T SLC22A2 c.1198C>A p.Arg400Ser Missense 7/11 -
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 -
2-47637246-A-T MSH2 c.380A>T p.Asn127Ile Missense 3/16 -
10-89468953-G-T PAPSS2 c.28G>T p.Glu10* Nonsense 2/13 -
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 -
16-2120572-G-A TSC2 c.1832G>A p.Arg611Gln Missense 17/42 -
18-58038633-A-G MC4R c.950T>C p.Ile317Thr Missense 1/1 -
4-6304118-G-A WFS1 c.2596G>A p.Asp866Asn Missense 8/8 -
8-6728298-C-A DEFB1 c.112G>T p.Val38Phe Missense 2/2 -
8-6728298-C-G DEFB1 c.112G>C p.Val38Leu Missense 2/2 -
12-103249039-A-G PAH c.581T>C p.Leu194Pro Missense 6/13 -
18-58038852-G-A MC4R c.731C>T p.Ala244Val Missense 1/1 -
18-58038852-G-C MC4R c.731C>G p.Ala244Gly Missense 1/1 -
12-5021268-G-C KCNA1 c.724G>C p.Ala242Pro Missense 2/2 -
14-24839083-G-C NFATC4 c.479G>C p.Gly160Ala Missense 2/10 -
18-58039473-T-A MC4R c.110A>T p.Asp37Val Missense 1/1 -
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 -
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 -
11-1782594-G-A CTSD c.173C>T p.Ala58Val Missense 2/9 -
9-21971108-C-T CDKN2A c.250G>A p.Asp84Asn Missense 2/3 -
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 -
2-47637246-A-C MSH2 c.380A>C p.Asn127Thr Missense 3/16 -
11-6291120-G-A CCKBR c.373G>A p.Val125Ile Missense 2/5 -
X-153761205-C-T G6PD c.1093G>A p.Ala365Thr Missense 9/13 -
22-42525035-C-A CYP2D6 c.505G>T p.Gly169* Nonsense 3/9 -
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 -
7-154862652-C-T HTR5A c.43C>T p.Pro15Ser Missense 1/2 -
1-160106455-T-C ATP1A2 c.2659T>C p.Trp887Arg Missense 19/23 -
4-6302889-G-A WFS1 c.1367G>A p.Arg456His Missense 8/8 -
12-14993882-G-T ART4 c.350C>A p.Thr117Asn Missense 2/3 -
3-48896530-T-C SLC25A20 c.713A>G p.Gln238Arg Missense 7/9 -
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 -
1-161138933-C-T PPOX c.767C>T p.Pro256Leu Missense 7/13 -
1-201029943-C-T CACNA1S c.3257G>A p.Arg1086His Missense 26/44 -
6-160664685-G-A SLC22A2 c.1198C>T p.Arg400Cys Missense 7/11 -
1-161138933-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 -
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 -
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 -
7-95041016-G-C PON2 c.443C>G p.Ala148Gly Missense 5/9 -
15-73029268-A-G BBS4 c.1414A>G p.Met472Val Missense 15/16 -
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 -
3-57232242-T-C HESX1 c.541A>G p.Thr181Ala Missense 4/4 -
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 -
9-21971108-C-A CDKN2A c.250G>T p.Asp84Tyr Missense 2/3 -
16-89806477-C-A FANCA c.3859G>T p.Val1287Phe Missense 39/43 -
13-32906593-C-T BRCA2 c.978C>T p.Ser326Ser Synonymous 10/27 -
17-3844345-G-A ATP2A3 c.2020C>T p.Arg674Cys Missense 14/23 -
13-32911295-G-T BRCA2 c.2803G>T p.Asp935Tyr Missense 11/27 -
13-32906593-C-A BRCA2 c.978C>A p.Ser326Arg Missense 10/27 -
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 -
13-108863591-G-A LIG4 c.26C>T p.Thr9Ile Missense 2/2 -
7-75615277-G-A POR c.1706G>A p.Cys569Tyr Missense 14/16 -
17-3397702-C-A ASPA c.693C>A p.Tyr231* Nonsense 5/6 -
17-39780466-A-G KRT17 c.296T>C p.Leu99Pro Missense 1/8 -
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 -
11-88911737-G-A TYR c.616G>A p.Ala206Thr Missense 1/5 -
X-48385644-G-A EBP c.440G>A p.Arg147His Missense 4/5 -
19-45316704-T-A BCAM c.611T>A p.Met204Lys Missense 6/15 -
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 -
4-6303033-C-T WFS1 c.1511C>T p.Pro504Leu Missense 8/8 -
19-18896846-T-C COMP c.1418A>G p.Asp473Gly Missense 13/19 -
2-38302350-C-G CYP1B1 c.182G>C p.Gly61Ala Missense 2/3 -
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 -
1-171168584-C-A FMO2 c.584C>A p.Ser195* Nonsense 5/9 -
4-6303033-C-A WFS1 c.1511C>A p.Pro504Gln Missense 8/8 -
17-3397702-C-T ASPA c.693C>T p.Tyr231Tyr Synonymous 5/6 -
13-52532469-C-T ATP7B c.2333G>A p.Arg778Gln Missense 8/21 -
7-117232642-A-G CFTR c.2421A>G p.Ile807Met Missense 14/27 -
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 -
9-104133461-T-C BAAT c.226A>G p.Met76Val Missense 2/4 -
3-10183764-A-T VHL c.233A>T p.Asn78Ile Missense 1/3 -
6-160663420-T-C SLC22A2 c.1294A>G p.Lys432Glu Missense 8/11 -
15-48737627-G-A FBN1 c.5863C>T p.Gln1955* Nonsense 48/66 -
19-3595794-A-G TBXA2R c.924T>C p.Tyr308Tyr Synonymous 3/3 -
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 -
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 -
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 -
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 -
16-67470523-C-T HSD11B2 c.835C>T p.Arg279Cys Missense 5/5 -
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 -
8-143996177-A-G CYP11B2 c.743T>C p.Ile248Thr Missense 4/9 -
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 -
1-183532437-G-C NCF2 c.1183C>G p.Arg395Gly Missense 13/15 -
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 -
3-10183739-G-T VHL c.208G>T p.Glu70* Nonsense 1/3 -
6-51889617-G-A PKHD1 c.4991C>T p.Ser1664Phe Missense 32/67 -
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 -
12-52309891-C-T ACVRL1 c.1120C>T p.Arg374Trp Missense 8/10 -
7-65554101-A-G ASL c.857A>G p.Gln286Arg Missense 12/17 -
21-38309098-A-C HLCS c.647T>G p.Leu216Arg Missense 5/12 -
5-112175240-G-C APC c.3949G>C p.Glu1317Gln Missense 16/16 -
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 -
22-51064699-T-G ARSA c.862A>C p.Thr288Pro Missense 5/8 -
8-6728298-C-T DEFB1 c.112G>A p.Val38Ile Missense 2/2 -
12-10313448-C-G OLR1 c.501G>C p.Lys167Asn Missense 4/6 -
2-190719499-G-A PMS1 c.1501G>A p.Gly501Arg Missense 9/13 -
16-56913065-T-C SLC12A3 c.1261T>C p.Cys421Arg Missense 10/26 -
3-10183770-G-T VHL c.239G>T p.Ser80Ile Missense 1/3 -
10-96535246-G-C CYP2C19 c.431G>C p.Arg144Pro Missense 3/9 -
10-96535246-G-A CYP2C19 c.431G>A p.Arg144His Missense 3/9 -
20-4705718-C-G PRND c.521C>G p.Thr174Arg Missense 2/2 -
20-4705718-C-T PRND c.521C>T p.Thr174Met Missense 2/2 -
4-6303693-C-T WFS1 c.2171C>T p.Pro724Leu Missense 8/8 -
19-45322962-A-T BCAM c.1742A>T p.Gln581Leu Missense 13/15 -
12-52309898-T-G ACVRL1 c.1127T>G p.Met376Arg Missense 8/10 -
17-15134248-G-A PMP22 c.469C>T p.Arg157Trp Missense 5/5 -
17-15134248-G-T PMP22 c.469C>A p.Arg157Arg Synonymous 5/5 -
13-32953550-G-T BRCA2 c.8851G>T p.Ala2951Ser Missense 22/27 -
10-96827030-C-A CYP2C8 c.416G>T p.Arg139Met Missense 3/9 -
X-30322790-T-C NR0B1 c.1319A>G p.Asn440Ser Missense 2/2 -
X-30322790-T-A NR0B1 c.1319A>T p.Asn440Ile Missense 2/2 -
12-103234252-T-C PAH c.1241A>G p.Tyr414Cys Missense 12/13 -
3-10183808-G-T VHL c.277G>T p.Gly93Cys Missense 1/3 -
X-54496615-G-A FGD1 c.935C>T p.Pro312Leu Missense 4/18 -
14-23898488-G-A MYH7 c.1207C>T p.Arg403Trp Missense 13/40 -
14-23898488-G-C MYH7 c.1207C>G p.Arg403Gly Missense 13/40 -
7-44104896-C-A PGAM2 c.233G>T p.Trp78Leu Missense 1/3 -
11-2591882-G-A KCNQ1 c.502G>A p.Gly168Arg Missense 3/16 -
X-153762655-T-A G6PD c.632A>T p.Asp211Val Missense 6/13 -
18-58038852-G-T MC4R c.731C>A p.Ala244Glu Missense 1/1 -
11-61723297-G-T BEST1 c.355G>T p.Glu119* Nonsense 4/11 -
1-242042364-A-C EXO1 c.1828A>C p.Ser610Arg Missense 11/14 -
7-99367427-C-T CYP3A4 c.485G>A p.Arg162Gln Missense 6/13 -
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 -
15-80472526-C-T FAH c.1021C>T p.Arg341Trp Missense 12/14 -
19-5832209-G-A FUT6 c.370C>T p.Pro124Ser Missense 3/3 -
12-6127833-T-C VWF c.4751A>G p.Tyr1584Cys Missense 28/52 -
10-43615094-C-T RET c.2508C>T p.Ser836Ser Synonymous 14/20 -
1-24124650-T-C GALE c.308A>G p.Asp103Gly Missense 5/12 -
1-171168584-C-T FMO2 c.584C>T p.Ser195Leu Missense 5/9 -
1-171168584-C-G FMO2 c.584C>G p.Ser195* Nonsense 5/9 -
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 -
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 -
4-187476360-G-C MTNR1A c.160C>G p.Arg54Gly Missense 1/2 -
11-2790111-C-T KCNQ1 c.1552C>T p.Arg518* Nonsense 12/16 -
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 -
7-107350627-G-A SLC26A4 c.2218G>A p.Gly740Ser Missense 19/21 -
4-23814707-G-A PPARGC1A c.1835C>T p.Thr612Met Missense 9/13 -
X-100653783-T-A GLA c.791A>T p.Asp264Val Missense 5/7 -
7-117307076-C-G CFTR c.4357C>G p.Arg1453Gly Missense 27/27 -
13-32953971-C-T BRCA2 c.9038C>T p.Thr3013Ile Missense 23/27 -
11-108098576-C-T ATM c.146C>T p.Ser49Phe Missense 3/63 -
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 -
3-10183739-G-A VHL c.208G>A p.Glu70Lys Missense 1/3 -
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-T PPARGC1A c.1835C>A p.Thr612Lys Missense 9/13 -
3-57233870-A-G HESX1 c.77T>C p.Ile26Thr Missense 1/4 -
1-97564154-C-T DPYD c.2657G>A p.Arg886His Missense 21/23 -
17-41258504-A-G BRCA1 c.181T>C p.Cys61Arg Missense 4/23 -
7-117144344-C-T CFTR c.91C>T p.Arg31Cys Missense 2/27 -
12-52886453-A-G KRT6A c.520T>C p.Phe174Leu Missense 1/9 -
6-160677669-C-G SLC22A2 c.495G>C p.Met165Ile Missense 2/11 -
3-10191555-C-A VHL c.548C>A p.Ser183* Nonsense 3/3 -
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 -
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 -
15-48787416-G-A FBN1 c.2581C>T p.Arg861* Nonsense 22/66 -
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 -
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 -
18-3457439-A-T TGIF1 c.707A>T p.Gln236Leu Missense 3/3 -
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-T GAA c.1935C>T p.Asp645Asp Synonymous 14/20 -
10-43610119-G-C RET c.2071G>C p.Gly691Arg Missense 11/20 -
17-78086721-C-A GAA c.1935C>A p.Asp645Glu Missense 14/20 -
11-108098576-C-G ATM c.146C>G p.Ser49Cys Missense 3/63 -
12-50344783-A-C AQP2 c.170A>C p.Gln57Pro Missense 1/4 -
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 -
12-103245479-C-A PAH c.898G>T p.Ala300Ser Missense 8/13 -
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 -
17-41244435-T-G BRCA1 c.3113A>C p.Glu1038Ala Missense 10/23 -
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 -
14-88450770-G-A GALC c.550C>T p.Arg184Cys Missense 5/17 -
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 -
1-171605384-C-A MYOC c.1196G>T p.Gly399Val Missense 3/3 -
13-32914132-T-G BRCA2 c.5640T>G p.Asn1880Lys Missense 11/27 -
3-10191507-G-T VHL c.500G>T p.Arg167Leu Missense 3/3 -
16-20360316-C-A UMOD c.307G>T p.Gly103Cys Missense 3/11 -
16-20360316-C-G UMOD c.307G>C p.Gly103Arg Missense 3/11 -
16-223502-C-A HBA2 c.332C>A p.Ala111Asp Missense 3/3 -
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 -
10-117849353-T-C GFRA1 c.1081A>G p.Thr361Ala Missense 7/9 -
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 -
7-117250575-G-C CFTR c.2991G>C p.Leu997Phe Missense 19/27 -
18-21119787-T-G NPC1 c.2783A>C p.Gln928Pro Missense 18/25 -
10-50678722-G-A ERCC6 c.3284C>T p.Pro1095Leu Missense 18/21 -
10-50678722-G-C ERCC6 c.3284C>G p.Pro1095Arg Missense 18/21 -
17-7577094-G-C TP53 c.844C>G p.Arg282Gly Missense 8/11 -
5-1411412-T-C SLC6A3 c.1215A>G p.Ser405Ser Synonymous 9/15 -
19-41354629-C-G CYP2A6 c.383G>C p.Arg128Pro Missense 3/9 -
18-58039301-G-C MC4R c.282C>G p.Ser94Arg Missense 1/1 -
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 -
1-196716319-C-T CFH c.3572C>T p.Ser1191Leu Missense 22/22 -
21-35742802-C-G KCNE2 c.25C>G p.Gln9Glu Missense 2/2 -
1-43805767-C-T MPL c.823C>T p.Pro275Ser Missense 5/12 -
21-35742802-C-T KCNE2 c.25C>T p.Gln9* Nonsense 2/2 -
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 -
17-41245471-C-A BRCA1 c.2077G>T p.Asp693Tyr Missense 10/23 -
17-41243509-T-A BRCA1 c.4039A>T p.Arg1347* Nonsense 10/23 -
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 -
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 -
21-44480590-C-G CBS c.1106G>C p.Arg369Pro Missense 12/17 -
X-153296882-G-C MECP2 c.397C>G p.Arg133Gly Missense 4/4 -
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 -
20-34021891-A-G GDF5 c.1322T>C p.Leu441Pro Missense 2/2 -
1-94476377-C-T ABCA4 c.5693G>A p.Arg1898His Missense 40/50 -
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 -