PMID: 18974781

Cataloging coding sequence variations in human genome databases.

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

1174 variants were identified in this publication


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