Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.112008389A=CA1279571231MERTKc.1874A= (p.Asn625=)
c.1346A= (p.Asn449=)
c.*1347A= (n.*1347A=)
c.839A= (p.Asn280=)
c.1685A= (p.Asn562=)
c.659A= (p.Asn220=)
2g.112008389A>CCA1831581MERTKc.1874A>C (p.Asn625Thr)
c.1346A>C (p.Asn449Thr)
c.*1347A>C (n.*1347A>C)
c.839A>C (p.Asn280Thr)
c.1685A>C (p.Asn562Thr)
c.659A>C (p.Asn220Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.112008389A>GCA1831580MERTKc.1874A>G (p.Asn625Ser)
c.1346A>G (p.Asn449Ser)
c.*1347A>G (n.*1347A>G)
c.839A>G (p.Asn280Ser)
c.1685A>G (p.Asn562Ser)
c.659A>G (p.Asn220Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008389A>TCA348233081MERTKc.1874A>T (p.Asn625Ile)
c.1346A>T (p.Asn449Ile)
c.*1347A>T (n.*1347A>T)
c.839A>T (p.Asn280Ile)
c.1685A>T (p.Asn562Ile)
c.659A>T (p.Asn220Ile)
2g.112008390C>ACA348233084MERTKc.1875C>A (p.Asn625Lys)
c.1347C>A (p.Asn449Lys)
c.*1348C>A (n.*1348C>A)
c.840C>A (p.Asn280Lys)
c.1686C>A (p.Asn562Lys)
c.660C>A (p.Asn220Lys)
2g.112008390C>GCA348233087MERTKc.1875C>G (p.Asn625Lys)
c.1347C>G (p.Asn449Lys)
c.*1348C>G (n.*1348C>G)
c.840C>G (p.Asn280Lys)
c.1686C>G (p.Asn562Lys)
c.660C>G (p.Asn220Lys)
2g.112008390C>TCA428275203MERTKc.1875C>T (p.Asn625=)
c.1347C>T (p.Asn449=)
c.*1348C>T (n.*1348C>T)
c.840C>T (p.Asn280=)
c.1686C>T (p.Asn562=)
c.660C>T (p.Asn220=)
2g.112008391T>ACA348233094MERTKc.1876T>A (p.Ser626Thr)
c.1348T>A (p.Ser450Thr)
c.*1349T>A (n.*1349T>A)
c.841T>A (p.Ser281Thr)
c.1687T>A (p.Ser563Thr)
c.661T>A (p.Ser221Thr)
2g.112008391T>CCA348233095MERTKc.1876T>C (p.Ser626Pro)
c.1348T>C (p.Ser450Pro)
c.*1349T>C (n.*1349T>C)
c.841T>C (p.Ser281Pro)
c.1687T>C (p.Ser563Pro)
c.661T>C (p.Ser221Pro)
2g.112008391T>GCA348233097MERTKc.1876T>G (p.Ser626Ala)
c.1348T>G (p.Ser450Ala)
c.*1349T>G (n.*1349T>G)
c.841T>G (p.Ser281Ala)
c.1687T>G (p.Ser563Ala)
c.661T>G (p.Ser221Ala)
2g.112008392C>ACA348233098MERTKc.1877C>A (p.Ser626Tyr)
c.1349C>A (p.Ser450Tyr)
c.*1350C>A (n.*1350C>A)
c.842C>A (p.Ser281Tyr)
c.1688C>A (p.Ser563Tyr)
c.662C>A (p.Ser221Tyr)
2g.112008392C=CA1279571232MERTKc.1877C= (p.Ser626=)
c.1349C= (p.Ser450=)
c.*1350C= (n.*1350C=)
c.842C= (p.Ser281=)
c.1688C= (p.Ser563=)
c.662C= (p.Ser221=)
2g.112008392C>GCA348233099MERTKc.1877C>G (p.Ser626Cys)
c.1349C>G (p.Ser450Cys)
c.*1350C>G (n.*1350C>G)
c.842C>G (p.Ser281Cys)
c.1688C>G (p.Ser563Cys)
c.662C>G (p.Ser221Cys)
 dbSNP COSMIC
2g.112008392C>TCA348233101MERTKc.1877C>T (p.Ser626Phe)
c.1349C>T (p.Ser450Phe)
c.*1350C>T (n.*1350C>T)
c.842C>T (p.Ser281Phe)
c.1688C>T (p.Ser563Phe)
c.662C>T (p.Ser221Phe)
 dbSNP gnomAD v4
2g.112008393T>ACA428275204MERTKc.1878T>A (p.Ser626=)
c.1350T>A (p.Ser450=)
c.*1351T>A (n.*1351T>A)
c.843T>A (p.Ser281=)
c.1689T>A (p.Ser563=)
c.663T>A (p.Ser221=)
2g.112008393T>CCA428275205MERTKc.1878T>C (p.Ser626=)
c.1350T>C (p.Ser450=)
c.*1351T>C (n.*1351T>C)
c.843T>C (p.Ser281=)
c.1689T>C (p.Ser563=)
c.663T>C (p.Ser221=)
2g.112008393T>GCA428275206MERTKc.1878T>G (p.Ser626=)
c.1350T>G (p.Ser450=)
c.*1351T>G (n.*1351T>G)
c.843T>G (p.Ser281=)
c.1689T>G (p.Ser563=)
c.663T>G (p.Ser221=)
2g.112008394T>ACA348233103MERTKc.1879T>A (p.Ser627Thr)
c.1351T>A (p.Ser451Thr)
c.*1352T>A (n.*1352T>A)
c.844T>A (p.Ser282Thr)
c.1690T>A (p.Ser564Thr)
c.664T>A (p.Ser222Thr)
2g.112008394T>CCA348233105MERTKc.1879T>C (p.Ser627Pro)
c.1351T>C (p.Ser451Pro)
c.*1352T>C (n.*1352T>C)
c.844T>C (p.Ser282Pro)
c.1690T>C (p.Ser564Pro)
c.664T>C (p.Ser222Pro)
2g.112008394T>GCA348233106MERTKc.1879T>G (p.Ser627Ala)
c.1351T>G (p.Ser451Ala)
c.*1352T>G (n.*1352T>G)
c.844T>G (p.Ser282Ala)
c.1690T>G (p.Ser564Ala)
c.664T>G (p.Ser222Ala)
2g.112008395C>ACA1831583MERTKc.1880C>A (p.Ser627Ter)
c.1352C>A (p.Ser451Ter)
c.*1353C>A (n.*1353C>A)
c.845C>A (p.Ser282Ter)
c.1691C>A (p.Ser564Ter)
c.665C>A (p.Ser222Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.112008395C=CA1279571233MERTKc.1880C= (p.Ser627=)
c.1352C= (p.Ser451=)
c.*1353C= (n.*1353C=)
c.845C= (p.Ser282=)
c.1691C= (p.Ser564=)
c.665C= (p.Ser222=)
2g.112008395C>GCA348233111MERTKc.1880C>G (p.Ser627Ter)
c.1352C>G (p.Ser451Ter)
c.*1353C>G (n.*1353C>G)
c.845C>G (p.Ser282Ter)
c.1691C>G (p.Ser564Ter)
c.665C>G (p.Ser222Ter)
2g.112008395C>TCA1831582MERTKc.1880C>T (p.Ser627Leu)
c.1352C>T (p.Ser451Leu)
c.*1353C>T (n.*1353C>T)
c.845C>T (p.Ser282Leu)
c.1691C>T (p.Ser564Leu)
c.665C>T (p.Ser222Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.112008395_112008396delinsTGCA2580063748MERTKc.1880_1881delinsTG (p.Ser627Leu)
c.1352_1353delinsTG (p.Ser451Leu)
c.*1353_*1354delinsTG (n.*1353_*1354delinsTG)
c.845_846delinsTG (p.Ser282Leu)
c.1691_1692delinsTG (p.Ser564Leu)
c.665_666delinsTG (p.Ser222Leu)
 ClinVar
2g.112008396A=CA1279571234MERTKc.1881A= (p.Ser627=)
c.1353A= (p.Ser451=)
c.*1354A= (n.*1354A=)
c.846A= (p.Ser282=)
c.1692A= (p.Ser564=)
c.666A= (p.Ser222=)
2g.112008396A>CCA428275207MERTKc.1881A>C (p.Ser627=)
c.1353A>C (p.Ser451=)
c.*1354A>C (n.*1354A>C)
c.846A>C (p.Ser282=)
c.1692A>C (p.Ser564=)
c.666A>C (p.Ser222=)
 gnomAD v4
2g.112008396A>GCA1831584MERTKc.1881A>G (p.Ser627=)
c.1353A>G (p.Ser451=)
c.*1354A>G (n.*1354A>G)
c.846A>G (p.Ser282=)
c.1692A>G (p.Ser564=)
c.666A>G (p.Ser222=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008396A>TCA428275208MERTKc.1881A>T (p.Ser627=)
c.1353A>T (p.Ser451=)
c.*1354A>T (n.*1354A>T)
c.846A>T (p.Ser282=)
c.1692A>T (p.Ser564=)
c.666A>T (p.Ser222=)
 dbSNP
2g.112008397C>ACA348233117MERTKc.1882C>A (p.Gln628Lys)
c.1354C>A (p.Gln452Lys)
c.*1355C>A (n.*1355C>A)
c.847C>A (p.Gln283Lys)
c.1693C>A (p.Gln565Lys)
c.667C>A (p.Gln223Lys)
2g.112008397C>GCA348233114MERTKc.1882C>G (p.Gln628Glu)
c.1354C>G (p.Gln452Glu)
c.*1355C>G (n.*1355C>G)
c.847C>G (p.Gln283Glu)
c.1693C>G (p.Gln565Glu)
c.667C>G (p.Gln223Glu)
2g.112008397C>TCA348233116MERTKc.1882C>T (p.Gln628Ter)
c.1354C>T (p.Gln452Ter)
c.*1355C>T (n.*1355C>T)
c.847C>T (p.Gln283Ter)
c.1693C>T (p.Gln565Ter)
c.667C>T (p.Gln223Ter)
2g.112008398A>CCA348233118MERTKc.1883A>C (p.Gln628Pro)
c.1355A>C (p.Gln452Pro)
c.*1356A>C (n.*1356A>C)
c.848A>C (p.Gln283Pro)
c.1694A>C (p.Gln565Pro)
c.668A>C (p.Gln223Pro)
2g.112008398A>GCA348233120MERTKc.1883A>G (p.Gln628Arg)
c.1355A>G (p.Gln452Arg)
c.*1356A>G (n.*1356A>G)
c.848A>G (p.Gln283Arg)
c.1694A>G (p.Gln565Arg)
c.668A>G (p.Gln223Arg)
2g.112008398A>TCA348233121MERTKc.1883A>T (p.Gln628Leu)
c.1355A>T (p.Gln452Leu)
c.*1356A>T (n.*1356A>T)
c.848A>T (p.Gln283Leu)
c.1694A>T (p.Gln565Leu)
c.668A>T (p.Gln223Leu)
2g.112008399G>ACA428275209MERTKc.1884G>A (p.Gln628=)
c.1356G>A (p.Gln452=)
c.*1357G>A (n.*1357G>A)
c.849G>A (p.Gln283=)
c.1695G>A (p.Gln565=)
c.669G>A (p.Gln223=)
 gnomAD v4
2g.112008399G>CCA348233122MERTKc.1884G>C (p.Gln628His)
c.1356G>C (p.Gln452His)
c.*1357G>C (n.*1357G>C)
c.849G>C (p.Gln283His)
c.1695G>C (p.Gln565His)
c.669G>C (p.Gln223His)
2g.112008399G>TCA348233123MERTKc.1884G>T (p.Gln628His)
c.1356G>T (p.Gln452His)
c.*1357G>T (n.*1357G>T)
c.849G>T (p.Gln283His)
c.1695G>T (p.Gln565His)
c.669G>T (p.Gln223His)
2g.112008400C>ACA428275210MERTKc.1885C>A (p.Arg629=)
c.1357C>A (p.Arg453=)
c.*1358C>A (n.*1358C>A)
c.850C>A (p.Arg284=)
c.1696C>A (p.Arg566=)
c.670C>A (p.Arg224=)
 gnomAD v2
2g.112008400C=CA1279571235MERTKc.1885C= (p.Arg629=)
c.1357C= (p.Arg453=)
c.*1358C= (n.*1358C=)
c.850C= (p.Arg284=)
c.1696C= (p.Arg566=)
c.670C= (p.Arg224=)
2g.112008400C>GCA348233125MERTKc.1885C>G (p.Arg629Gly)
c.1357C>G (p.Arg453Gly)
c.*1358C>G (n.*1358C>G)
c.850C>G (p.Arg284Gly)
c.1696C>G (p.Arg566Gly)
c.670C>G (p.Arg224Gly)
2g.112008400C>TCA1831585MERTKc.1885C>T (p.Arg629Trp)
c.1357C>T (p.Arg453Trp)
c.*1358C>T (n.*1358C>T)
c.850C>T (p.Arg284Trp)
c.1696C>T (p.Arg566Trp)
c.670C>T (p.Arg224Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008400_112008401delinsCGCA1279571236MERTKc.1885_1886delinsCG (p.Arg629=)
c.1357_1358delinsCG (p.Arg453=)
c.*1358_*1359delinsCG (n.*1358_*1359delinsCG)
c.850_851delinsCG (p.Arg284=)
c.1696_1697delinsCG (p.Arg566=)
c.670_671delinsCG (p.Arg224=)
2g.112008401G>ACA348233127MERTKc.1886G>A (p.Arg629Gln)
c.1358G>A (p.Arg453Gln)
c.*1359G>A (n.*1359G>A)
c.851G>A (p.Arg284Gln)
c.1697G>A (p.Arg566Gln)
c.671G>A (p.Arg224Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.112008401G>CCA348233129MERTKc.1886G>C (p.Arg629Pro)
c.1358G>C (p.Arg453Pro)
c.*1359G>C (n.*1359G>C)
c.851G>C (p.Arg284Pro)
c.1697G>C (p.Arg566Pro)
c.671G>C (p.Arg224Pro)
2g.112008401G=CA1279571237MERTKc.1886G= (p.Arg629=)
c.1358G= (p.Arg453=)
c.*1359G= (n.*1359G=)
c.851G= (p.Arg284=)
c.1697G= (p.Arg566=)
c.671G= (p.Arg224=)
2g.112008401G>TCA348233131MERTKc.1886G>T (p.Arg629Leu)
c.1358G>T (p.Arg453Leu)
c.*1359G>T (n.*1359G>T)
c.851G>T (p.Arg284Leu)
c.1697G>T (p.Arg566Leu)
c.671G>T (p.Arg224Leu)
 COSMIC COSMIC
2g.112008403delCA535187004MERTKc.1888del (p.Glu630ArgfsTer12)
c.1360del (p.Glu454ArgfsTer12)
c.*1361del (n.*1361del)
c.853del (p.Glu285ArgfsTer12)
c.1699del (p.Glu567ArgfsTer12)
c.673del (p.Glu225ArgfsTer12)
 dbSNP gnomAD v2 gnomAD v4
2g.112008402G>ACA428275213MERTKc.1887G>A (p.Arg629=)
c.1359G>A (p.Arg453=)
c.*1360G>A (n.*1360G>A)
c.852G>A (p.Arg284=)
c.1698G>A (p.Arg566=)
c.672G>A (p.Arg224=)
2g.112008402G>CCA428275211MERTKc.1887G>C (p.Arg629=)
c.1359G>C (p.Arg453=)
c.*1360G>C (n.*1360G>C)
c.852G>C (p.Arg284=)
c.1698G>C (p.Arg566=)
c.672G>C (p.Arg224=)
 dbSNP gnomAD v2 gnomAD v4
2g.112008402G=CA1279571238MERTKc.1887G= (p.Arg629=)
c.1359G= (p.Arg453=)
c.*1360G= (n.*1360G=)
c.852G= (p.Arg284=)
c.1698G= (p.Arg566=)
c.672G= (p.Arg224=)
2g.112008402G>TCA428275212MERTKc.1887G>T (p.Arg629=)
c.1359G>T (p.Arg453=)
c.*1360G>T (n.*1360G>T)
c.852G>T (p.Arg284=)
c.1698G>T (p.Arg566=)
c.672G>T (p.Arg224=)
 gnomAD v4
2g.112008403G>ACA348233133MERTKc.1888G>A (p.Glu630Lys)
c.1360G>A (p.Glu454Lys)
c.*1361G>A (n.*1361G>A)
c.853G>A (p.Glu285Lys)
c.1699G>A (p.Glu567Lys)
c.673G>A (p.Glu225Lys)
 gnomAD v4
2g.112008403G>CCA348233134MERTKc.1888G>C (p.Glu630Gln)
c.1360G>C (p.Glu454Gln)
c.*1361G>C (n.*1361G>C)
c.853G>C (p.Glu285Gln)
c.1699G>C (p.Glu567Gln)
c.673G>C (p.Glu225Gln)
2g.112008403G>TCA348233135MERTKc.1888G>T (p.Glu630Ter)
c.1360G>T (p.Glu454Ter)
c.*1361G>T (n.*1361G>T)
c.853G>T (p.Glu285Ter)
c.1699G>T (p.Glu567Ter)
c.673G>T (p.Glu225Ter)
2g.112008404A=CA1279571239MERTKc.1889A= (p.Glu630=)
c.1361A= (p.Glu454=)
c.*1362A= (n.*1362A=)
c.854A= (p.Glu285=)
c.1700A= (p.Glu567=)
c.674A= (p.Glu225=)
2g.112008404A>CCA348233141MERTKc.1889A>C (p.Glu630Ala)
c.1361A>C (p.Glu454Ala)
c.*1362A>C (n.*1362A>C)
c.854A>C (p.Glu285Ala)
c.1700A>C (p.Glu567Ala)
c.674A>C (p.Glu225Ala)
2g.112008404A>GCA348233138MERTKc.1889A>G (p.Glu630Gly)
c.1361A>G (p.Glu454Gly)
c.*1362A>G (n.*1362A>G)
c.854A>G (p.Glu285Gly)
c.1700A>G (p.Glu567Gly)
c.674A>G (p.Glu225Gly)
2g.112008404A>TCA348233139MERTKc.1889A>T (p.Glu630Val)
c.1361A>T (p.Glu454Val)
c.*1362A>T (n.*1362A>T)
c.854A>T (p.Glu285Val)
c.1700A>T (p.Glu567Val)
c.674A>T (p.Glu225Val)
 dbSNP gnomAD v2 gnomAD v4
2g.112008405G>ACA428275214MERTKc.1890G>A (p.Glu630=)
c.1362G>A (p.Glu454=)
c.*1363G>A (n.*1363G>A)
c.855G>A (p.Glu285=)
c.1701G>A (p.Glu567=)
c.675G>A (p.Glu225=)
2g.112008405G>CCA348233143MERTKc.1890G>C (p.Glu630Asp)
c.1362G>C (p.Glu454Asp)
c.*1363G>C (n.*1363G>C)
c.855G>C (p.Glu285Asp)
c.1701G>C (p.Glu567Asp)
c.675G>C (p.Glu225Asp)
2g.112008405G>TCA348233144MERTKc.1890G>T (p.Glu630Asp)
c.1362G>T (p.Glu454Asp)
c.*1363G>T (n.*1363G>T)
c.855G>T (p.Glu285Asp)
c.1701G>T (p.Glu567Asp)
c.675G>T (p.Glu225Asp)
2g.112008406A>CCA348233147MERTKc.1891A>C (p.Ile631Leu)
c.1363A>C (p.Ile455Leu)
c.*1364A>C (n.*1364A>C)
c.856A>C (p.Ile286Leu)
c.1702A>C (p.Ile568Leu)
c.676A>C (p.Ile226Leu)
2g.112008406A>GCA348233148MERTKc.1891A>G (p.Ile631Val)
c.1363A>G (p.Ile455Val)
c.*1364A>G (n.*1364A>G)
c.856A>G (p.Ile286Val)
c.1702A>G (p.Ile568Val)
c.676A>G (p.Ile226Val)
2g.112008406A>TCA348233149MERTKc.1891A>T (p.Ile631Phe)
c.1363A>T (p.Ile455Phe)
c.*1364A>T (n.*1364A>T)
c.856A>T (p.Ile286Phe)
c.1702A>T (p.Ile568Phe)
c.676A>T (p.Ile226Phe)
2g.112008407T>ACA348233151MERTKc.1892T>A (p.Ile631Asn)
c.1364T>A (p.Ile455Asn)
c.*1365T>A (n.*1365T>A)
c.857T>A (p.Ile286Asn)
c.1703T>A (p.Ile568Asn)
c.677T>A (p.Ile226Asn)
2g.112008407T>CCA348233153MERTKc.1892T>C (p.Ile631Thr)
c.1364T>C (p.Ile455Thr)
c.*1365T>C (n.*1365T>C)
c.857T>C (p.Ile286Thr)
c.1703T>C (p.Ile568Thr)
c.677T>C (p.Ile226Thr)
2g.112008407T>GCA348233155MERTKc.1892T>G (p.Ile631Ser)
c.1364T>G (p.Ile455Ser)
c.*1365T>G (n.*1365T>G)
c.857T>G (p.Ile286Ser)
c.1703T>G (p.Ile568Ser)
c.677T>G (p.Ile226Ser)
2g.112008408C>ACA428275215MERTKc.1893C>A (p.Ile631=)
c.1365C>A (p.Ile455=)
c.*1366C>A (n.*1366C>A)
c.858C>A (p.Ile286=)
c.1704C>A (p.Ile568=)
c.678C>A (p.Ile226=)
 gnomAD v4
2g.112008408C=CA1279571240MERTKc.1893C= (p.Ile631=)
c.1365C= (p.Ile455=)
c.*1366C= (n.*1366C=)
c.858C= (p.Ile286=)
c.1704C= (p.Ile568=)
c.678C= (p.Ile226=)
2g.112008408C>GCA348233157MERTKc.1893C>G (p.Ile631Met)
c.1365C>G (p.Ile455Met)
c.*1366C>G (n.*1366C>G)
c.858C>G (p.Ile286Met)
c.1704C>G (p.Ile568Met)
c.678C>G (p.Ile226Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.112008408C>TCA1831586MERTKc.1893C>T (p.Ile631=)
c.1365C>T (p.Ile455=)
c.*1366C>T (n.*1366C>T)
c.858C>T (p.Ile286=)
c.1704C>T (p.Ile568=)
c.678C>T (p.Ile226=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008409G>ACA222925MERTKc.1894G>A (p.Glu632Lys)
c.1366G>A (p.Glu456Lys)
c.*1367G>A (n.*1367G>A)
c.859G>A (p.Glu287Lys)
c.1705G>A (p.Glu569Lys)
c.679G>A (p.Glu227Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008409G>CCA348233161MERTKc.1894G>C (p.Glu632Gln)
c.1366G>C (p.Glu456Gln)
c.*1367G>C (n.*1367G>C)
c.859G>C (p.Glu287Gln)
c.1705G>C (p.Glu569Gln)
c.679G>C (p.Glu227Gln)
2g.112008409G=CA1279571241MERTKc.1894G= (p.Glu632=)
c.1366G= (p.Glu456=)
c.*1367G= (n.*1367G=)
c.859G= (p.Glu287=)
c.1705G= (p.Glu569=)
c.679G= (p.Glu227=)
2g.112008409G>TCA348233163MERTKc.1894G>T (p.Glu632Ter)
c.1366G>T (p.Glu456Ter)
c.*1367G>T (n.*1367G>T)
c.859G>T (p.Glu287Ter)
c.1705G>T (p.Glu569Ter)
c.679G>T (p.Glu227Ter)
2g.112008410A>CCA348233165MERTKc.1895A>C (p.Glu632Ala)
c.1367A>C (p.Glu456Ala)
c.*1368A>C (n.*1368A>C)
c.860A>C (p.Glu287Ala)
c.1706A>C (p.Glu569Ala)
c.680A>C (p.Glu227Ala)
2g.112008410A>GCA348233167MERTKc.1895A>G (p.Glu632Gly)
c.1367A>G (p.Glu456Gly)
c.*1368A>G (n.*1368A>G)
c.860A>G (p.Glu287Gly)
c.1706A>G (p.Glu569Gly)
c.680A>G (p.Glu227Gly)
2g.112008410A>TCA348233166MERTKc.1895A>T (p.Glu632Val)
c.1367A>T (p.Glu456Val)
c.*1368A>T (n.*1368A>T)
c.860A>T (p.Glu287Val)
c.1706A>T (p.Glu569Val)
c.680A>T (p.Glu227Val)
2g.112008411G>ACA428275216MERTKc.1896G>A (p.Glu632=)
c.1368G>A (p.Glu456=)
c.*1369G>A (n.*1369G>A)
c.861G>A (p.Glu287=)
c.1707G>A (p.Glu569=)
c.681G>A (p.Glu227=)
2g.112008411G>CCA348233169MERTKc.1896G>C (p.Glu632Asp)
c.1368G>C (p.Glu456Asp)
c.*1369G>C (n.*1369G>C)
c.861G>C (p.Glu287Asp)
c.1707G>C (p.Glu569Asp)
c.681G>C (p.Glu227Asp)
2g.112008411G>TCA348233171MERTKc.1896G>T (p.Glu632Asp)
c.1368G>T (p.Glu456Asp)
c.*1369G>T (n.*1369G>T)
c.861G>T (p.Glu287Asp)
c.1707G>T (p.Glu569Asp)
c.681G>T (p.Glu227Asp)
2g.112008412G>ACA348233173MERTKc.1897G>A (p.Glu633Lys)
c.1369G>A (p.Glu457Lys)
c.*1370G>A (n.*1370G>A)
c.862G>A (p.Glu288Lys)
c.1708G>A (p.Glu570Lys)
c.682G>A (p.Glu228Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.112008412G>CCA348233179MERTKc.1897G>C (p.Glu633Gln)
c.1369G>C (p.Glu457Gln)
c.*1370G>C (n.*1370G>C)
c.862G>C (p.Glu288Gln)
c.1708G>C (p.Glu570Gln)
c.682G>C (p.Glu228Gln)
2g.112008412G=CA1279571242MERTKc.1897G= (p.Glu633=)
c.1369G= (p.Glu457=)
c.*1370G= (n.*1370G=)
c.862G= (p.Glu288=)
c.1708G= (p.Glu570=)
c.682G= (p.Glu228=)
2g.112008412G>TCA348233181MERTKc.1897G>T (p.Glu633Ter)
c.1369G>T (p.Glu457Ter)
c.*1370G>T (n.*1370G>T)
c.862G>T (p.Glu288Ter)
c.1708G>T (p.Glu570Ter)
c.682G>T (p.Glu228Ter)
 dbSNP gnomAD v4
2g.112008413delCA2660690112MERTKc.1898del (p.Glu633GlyfsTer9)
c.1370del (p.Glu457GlyfsTer9)
c.*1371del (n.*1371del)
c.863del (p.Glu288GlyfsTer9)
c.1709del (p.Glu570GlyfsTer9)
c.683del (p.Glu228GlyfsTer9)
 gnomAD v4
2g.112008413A>CCA348233183MERTKc.1898A>C (p.Glu633Ala)
c.1370A>C (p.Glu457Ala)
c.*1371A>C (n.*1371A>C)
c.863A>C (p.Glu288Ala)
c.1709A>C (p.Glu570Ala)
c.683A>C (p.Glu228Ala)
2g.112008413A>GCA348233184MERTKc.1898A>G (p.Glu633Gly)
c.1370A>G (p.Glu457Gly)
c.*1371A>G (n.*1371A>G)
c.863A>G (p.Glu288Gly)
c.1709A>G (p.Glu570Gly)
c.683A>G (p.Glu228Gly)
2g.112008413A>TCA348233185MERTKc.1898A>T (p.Glu633Val)
c.1370A>T (p.Glu457Val)
c.*1371A>T (n.*1371A>T)
c.863A>T (p.Glu288Val)
c.1709A>T (p.Glu570Val)
c.683A>T (p.Glu228Val)
2g.112008414G>ACA428275217MERTKc.1899G>A (p.Glu633=)
c.1371G>A (p.Glu457=)
c.*1372G>A (n.*1372G>A)
c.864G>A (p.Glu288=)
c.1710G>A (p.Glu570=)
c.684G>A (p.Glu228=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.112008414G>CCA348233186MERTKc.1899G>C (p.Glu633Asp)
c.1371G>C (p.Glu457Asp)
c.*1372G>C (n.*1372G>C)
c.864G>C (p.Glu288Asp)
c.1710G>C (p.Glu570Asp)
c.684G>C (p.Glu228Asp)
2g.112008414G=CA1279571243MERTKc.1899G= (p.Glu633=)
c.1371G= (p.Glu457=)
c.*1372G= (n.*1372G=)
c.864G= (p.Glu288=)
c.1710G= (p.Glu570=)
c.684G= (p.Glu228=)
2g.112008414G>TCA348233187MERTKc.1899G>T (p.Glu633Asp)
c.1371G>T (p.Glu457Asp)
c.*1372G>T (n.*1372G>T)
c.864G>T (p.Glu288Asp)
c.1710G>T (p.Glu570Asp)
c.684G>T (p.Glu228Asp)
2g.112008415T>ACA348233188MERTKc.1900T>A (p.Phe634Ile)
c.1372T>A (p.Phe458Ile)
c.*1373T>A (n.*1373T>A)
c.865T>A (p.Phe289Ile)
c.1711T>A (p.Phe571Ile)
c.685T>A (p.Phe229Ile)
2g.112008415T>CCA348233189MERTKc.1900T>C (p.Phe634Leu)
c.1372T>C (p.Phe458Leu)
c.*1373T>C (n.*1373T>C)
c.865T>C (p.Phe289Leu)
c.1711T>C (p.Phe571Leu)
c.685T>C (p.Phe229Leu)
2g.112008415T>GCA348233190MERTKc.1900T>G (p.Phe634Val)
c.1372T>G (p.Phe458Val)
c.*1373T>G (n.*1373T>G)
c.865T>G (p.Phe289Val)
c.1711T>G (p.Phe571Val)
c.685T>G (p.Phe229Val)
2g.112008417delCA2586969804MERTKc.1902del (p.Leu635SerfsTer7)
c.1374del (p.Leu459SerfsTer7)
c.*1375del (n.*1375del)
c.867del (p.Leu290SerfsTer7)
c.1713del (p.Leu572SerfsTer7)
c.687del (p.Leu230SerfsTer7)
2g.112008416T>ACA348233194MERTKc.1901T>A (p.Phe634Tyr)
c.1373T>A (p.Phe458Tyr)
c.*1374T>A (n.*1374T>A)
c.866T>A (p.Phe289Tyr)
c.1712T>A (p.Phe571Tyr)
c.686T>A (p.Phe229Tyr)
2g.112008416T>CCA348233191MERTKc.1901T>C (p.Phe634Ser)
c.1373T>C (p.Phe458Ser)
c.*1374T>C (n.*1374T>C)
c.866T>C (p.Phe289Ser)
c.1712T>C (p.Phe571Ser)
c.686T>C (p.Phe229Ser)
2g.112008416T>GCA348233193MERTKc.1901T>G (p.Phe634Cys)
c.1373T>G (p.Phe458Cys)
c.*1374T>G (n.*1374T>G)
c.866T>G (p.Phe289Cys)
c.1712T>G (p.Phe571Cys)
c.686T>G (p.Phe229Cys)
2g.112008417T>ACA348233195MERTKc.1902T>A (p.Phe634Leu)
c.1374T>A (p.Phe458Leu)
c.*1375T>A (n.*1375T>A)
c.867T>A (p.Phe289Leu)
c.1713T>A (p.Phe571Leu)
c.687T>A (p.Phe229Leu)
2g.112008417T>CCA428275218MERTKc.1902T>C (p.Phe634=)
c.1374T>C (p.Phe458=)
c.*1375T>C (n.*1375T>C)
c.867T>C (p.Phe289=)
c.1713T>C (p.Phe571=)
c.687T>C (p.Phe229=)
2g.112008417T>GCA348233197MERTKc.1902T>G (p.Phe634Leu)
c.1374T>G (p.Phe458Leu)
c.*1375T>G (n.*1375T>G)
c.867T>G (p.Phe289Leu)
c.1713T>G (p.Phe571Leu)
c.687T>G (p.Phe229Leu)
2g.112008418C>ACA348233199MERTKc.1903C>A (p.Leu635Ile)
c.1375C>A (p.Leu459Ile)
c.*1376C>A (n.*1376C>A)
c.868C>A (p.Leu290Ile)
c.1714C>A (p.Leu572Ile)
c.688C>A (p.Leu230Ile)
2g.112008418C>GCA348233201MERTKc.1903C>G (p.Leu635Val)
c.1375C>G (p.Leu459Val)
c.*1376C>G (n.*1376C>G)
c.868C>G (p.Leu290Val)
c.1714C>G (p.Leu572Val)
c.688C>G (p.Leu230Val)
 gnomAD v4
2g.112008418C>TCA348233203MERTKc.1903C>T (p.Leu635Phe)
c.1375C>T (p.Leu459Phe)
c.*1376C>T (n.*1376C>T)
c.868C>T (p.Leu290Phe)
c.1714C>T (p.Leu572Phe)
c.688C>T (p.Leu230Phe)
 gnomAD v4
2g.112008419T>ACA348233204MERTKc.1904T>A (p.Leu635His)
c.1376T>A (p.Leu459His)
c.*1377T>A (n.*1377T>A)
c.869T>A (p.Leu290His)
c.1715T>A (p.Leu572His)
c.689T>A (p.Leu230His)
2g.112008419T>CCA348233206MERTKc.1904T>C (p.Leu635Pro)
c.1376T>C (p.Leu459Pro)
c.*1377T>C (n.*1377T>C)
c.869T>C (p.Leu290Pro)
c.1715T>C (p.Leu572Pro)
c.689T>C (p.Leu230Pro)
2g.112008419T>GCA348233208MERTKc.1904T>G (p.Leu635Arg)
c.1376T>G (p.Leu459Arg)
c.*1377T>G (n.*1377T>G)
c.869T>G (p.Leu290Arg)
c.1715T>G (p.Leu572Arg)
c.689T>G (p.Leu230Arg)
2g.112008420C>ACA428275219MERTKc.1905C>A (p.Leu635=)
c.1377C>A (p.Leu459=)
c.*1378C>A (n.*1378C>A)
c.870C>A (p.Leu290=)
c.1716C>A (p.Leu572=)
c.690C>A (p.Leu230=)
2g.112008420C=CA1279571244MERTKc.1905C= (p.Leu635=)
c.1377C= (p.Leu459=)
c.*1378C= (n.*1378C=)
c.870C= (p.Leu290=)
c.1716C= (p.Leu572=)
c.690C= (p.Leu230=)
2g.112008420C>GCA428275220MERTKc.1905C>G (p.Leu635=)
c.1377C>G (p.Leu459=)
c.*1378C>G (n.*1378C>G)
c.870C>G (p.Leu290=)
c.1716C>G (p.Leu572=)
c.690C>G (p.Leu230=)
2g.112008420C>TCA428275221MERTKc.1905C>T (p.Leu635=)
c.1377C>T (p.Leu459=)
c.*1378C>T (n.*1378C>T)
c.870C>T (p.Leu290=)
c.1716C>T (p.Leu572=)
c.690C>T (p.Leu230=)
 ClinVar dbSNP gnomAD v4
2g.112008421A=CA1279571245MERTKc.1906A= (p.Ser636=)
c.1378A= (p.Ser460=)
c.*1379A= (n.*1379A=)
c.871A= (p.Ser291=)
c.1717A= (p.Ser573=)
c.691A= (p.Ser231=)
2g.112008421A>CCA348233209MERTKc.1906A>C (p.Ser636Arg)
c.1378A>C (p.Ser460Arg)
c.*1379A>C (n.*1379A>C)
c.871A>C (p.Ser291Arg)
c.1717A>C (p.Ser573Arg)
c.691A>C (p.Ser231Arg)
2g.112008421A>GCA1831587MERTKc.1906A>G (p.Ser636Gly)
c.1378A>G (p.Ser460Gly)
c.*1379A>G (n.*1379A>G)
c.871A>G (p.Ser291Gly)
c.1717A>G (p.Ser573Gly)
c.691A>G (p.Ser231Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008421A>TCA348233212MERTKc.1906A>T (p.Ser636Cys)
c.1378A>T (p.Ser460Cys)
c.*1379A>T (n.*1379A>T)
c.871A>T (p.Ser291Cys)
c.1717A>T (p.Ser573Cys)
c.691A>T (p.Ser231Cys)
 gnomAD v4
2g.112008422G>ACA348233214MERTKc.1907G>A (p.Ser636Asn)
c.1379G>A (p.Ser460Asn)
c.*1380G>A (n.*1380G>A)
c.872G>A (p.Ser291Asn)
c.1718G>A (p.Ser573Asn)
c.692G>A (p.Ser231Asn)
2g.112008422G>CCA1831588MERTKc.1907G>C (p.Ser636Thr)
c.1379G>C (p.Ser460Thr)
c.*1380G>C (n.*1380G>C)
c.872G>C (p.Ser291Thr)
c.1718G>C (p.Ser573Thr)
c.692G>C (p.Ser231Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.112008422G=CA1279571246MERTKc.1907G= (p.Ser636=)
c.1379G= (p.Ser460=)
c.*1380G= (n.*1380G=)
c.872G= (p.Ser291=)
c.1718G= (p.Ser573=)
c.692G= (p.Ser231=)
2g.112008422G>TCA348233216MERTKc.1907G>T (p.Ser636Ile)
c.1379G>T (p.Ser460Ile)
c.*1380G>T (n.*1380G>T)
c.872G>T (p.Ser291Ile)
c.1718G>T (p.Ser573Ile)
c.692G>T (p.Ser231Ile)
2g.112008423T>ACA348233218MERTKc.1908T>A (p.Ser636Arg)
c.1380T>A (p.Ser460Arg)
c.*1381T>A (n.*1381T>A)
c.873T>A (p.Ser291Arg)
c.1719T>A (p.Ser573Arg)
c.693T>A (p.Ser231Arg)
2g.112008423T>CCA428275222MERTKc.1908T>C (p.Ser636=)
c.1380T>C (p.Ser460=)
c.*1381T>C (n.*1381T>C)
c.873T>C (p.Ser291=)
c.1719T>C (p.Ser573=)
c.693T>C (p.Ser231=)
2g.112008423T>GCA348233220MERTKc.1908T>G (p.Ser636Arg)
c.1380T>G (p.Ser460Arg)
c.*1381T>G (n.*1381T>G)
c.873T>G (p.Ser291Arg)
c.1719T>G (p.Ser573Arg)
c.693T>G (p.Ser231Arg)
2g.112008424G>ACA348233222MERTKc.1909G>A (p.Glu637Lys)
c.1381G>A (p.Glu461Lys)
c.*1382G>A (n.*1382G>A)
c.874G>A (p.Glu292Lys)
c.1720G>A (p.Glu574Lys)
c.694G>A (p.Glu232Lys)
 gnomAD v4
2g.112008424G>CCA348233223MERTKc.1909G>C (p.Glu637Gln)
c.1381G>C (p.Glu461Gln)
c.*1382G>C (n.*1382G>C)
c.874G>C (p.Glu292Gln)
c.1720G>C (p.Glu574Gln)
c.694G>C (p.Glu232Gln)
2g.112008424G>TCA348233225MERTKc.1909G>T (p.Glu637Ter)
c.1381G>T (p.Glu461Ter)
c.*1382G>T (n.*1382G>T)
c.874G>T (p.Glu292Ter)
c.1720G>T (p.Glu574Ter)
c.694G>T (p.Glu232Ter)
2g.112008425A>CCA348233227MERTKc.1910A>C (p.Glu637Ala)
c.1382A>C (p.Glu461Ala)
c.*1383A>C (n.*1383A>C)
c.875A>C (p.Glu292Ala)
c.1721A>C (p.Glu574Ala)
c.695A>C (p.Glu232Ala)
2g.112008425A>GCA348233229MERTKc.1910A>G (p.Glu637Gly)
c.1382A>G (p.Glu461Gly)
c.*1383A>G (n.*1383A>G)
c.875A>G (p.Glu292Gly)
c.1721A>G (p.Glu574Gly)
c.695A>G (p.Glu232Gly)
2g.112008425A>TCA348233230MERTKc.1910A>T (p.Glu637Val)
c.1382A>T (p.Glu461Val)
c.*1383A>T (n.*1383A>T)
c.875A>T (p.Glu292Val)
c.1721A>T (p.Glu574Val)
c.695A>T (p.Glu232Val)
2g.112008426G>ACA428275223MERTKc.1911G>A (p.Glu637=)
c.1383G>A (p.Glu461=)
c.*1384G>A (n.*1384G>A)
c.876G>A (p.Glu292=)
c.1722G>A (p.Glu574=)
c.696G>A (p.Glu232=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.112008426G>CCA348233232MERTKc.1911G>C (p.Glu637Asp)
c.1383G>C (p.Glu461Asp)
c.*1384G>C (n.*1384G>C)
c.876G>C (p.Glu292Asp)
c.1722G>C (p.Glu574Asp)
c.696G>C (p.Glu232Asp)
2g.112008426G=CA1279571247MERTKc.1911G= (p.Glu637=)
c.1383G= (p.Glu461=)
c.*1384G= (n.*1384G=)
c.876G= (p.Glu292=)
c.1722G= (p.Glu574=)
c.696G= (p.Glu232=)
2g.112008426G>TCA348233234MERTKc.1911G>T (p.Glu637Asp)
c.1383G>T (p.Glu461Asp)
c.*1384G>T (n.*1384G>T)
c.876G>T (p.Glu292Asp)
c.1722G>T (p.Glu574Asp)
c.696G>T (p.Glu232Asp)
2g.112008427dupCA2660690113MERTKc.1912dup (p.Ala638GlyfsTer?)
c.1384dup (p.Ala462GlyfsTer?)
c.*1385dup (n.*1385dup)
c.877dup (p.Ala293GlyfsTer22)
c.1723dup (p.Ala575GlyfsTer?)
c.697dup (p.Ala233GlyfsTer?)
 gnomAD v4
2g.112008427G>ACA348233235MERTKc.1912G>A (p.Ala638Thr)
c.1384G>A (p.Ala462Thr)
c.*1385G>A (n.*1385G>A)
c.877G>A (p.Ala293Thr)
c.1723G>A (p.Ala575Thr)
c.697G>A (p.Ala233Thr)
 COSMIC
2g.112008427G>CCA348233237MERTKc.1912G>C (p.Ala638Pro)
c.1384G>C (p.Ala462Pro)
c.*1385G>C (n.*1385G>C)
c.877G>C (p.Ala293Pro)
c.1723G>C (p.Ala575Pro)
c.697G>C (p.Ala233Pro)
2g.112008427G>TCA348233239MERTKc.1912G>T (p.Ala638Ser)
c.1384G>T (p.Ala462Ser)
c.*1385G>T (n.*1385G>T)
c.877G>T (p.Ala293Ser)
c.1723G>T (p.Ala575Ser)
c.697G>T (p.Ala233Ser)
2g.112008428C>ACA348233245MERTKc.1913C>A (p.Ala638Glu)
c.1385C>A (p.Ala462Glu)
c.*1386C>A (n.*1386C>A)
c.878C>A (p.Ala293Glu)
c.1724C>A (p.Ala575Glu)
c.698C>A (p.Ala233Glu)
2g.112008428C=CA1279571248MERTKc.1913C= (p.Ala638=)
c.1385C= (p.Ala462=)
c.*1386C= (n.*1386C=)
c.878C= (p.Ala293=)
c.1724C= (p.Ala575=)
c.698C= (p.Ala233=)
2g.112008428C>GCA348233243MERTKc.1913C>G (p.Ala638Gly)
c.1385C>G (p.Ala462Gly)
c.*1386C>G (n.*1386C>G)
c.878C>G (p.Ala293Gly)
c.1724C>G (p.Ala575Gly)
c.698C>G (p.Ala233Gly)
2g.112008428C>TCA348233241MERTKc.1913C>T (p.Ala638Val)
c.1385C>T (p.Ala462Val)
c.*1386C>T (n.*1386C>T)
c.878C>T (p.Ala293Val)
c.1724C>T (p.Ala575Val)
c.698C>T (p.Ala233Val)
 dbSNP
2g.112008429A>CCA428275225MERTKc.1914A>C (p.Ala638=)
c.1386A>C (p.Ala462=)
c.*1387A>C (n.*1387A>C)
c.879A>C (p.Ala293=)
c.1725A>C (p.Ala575=)
c.699A>C (p.Ala233=)
2g.112008429A>GCA428275226MERTKc.1914A>G (p.Ala638=)
c.1386A>G (p.Ala462=)
c.*1387A>G (n.*1387A>G)
c.879A>G (p.Ala293=)
c.1725A>G (p.Ala575=)
c.699A>G (p.Ala233=)
2g.112008429A>TCA428275224MERTKc.1914A>T (p.Ala638=)
c.1386A>T (p.Ala462=)
c.*1387A>T (n.*1387A>T)
c.879A>T (p.Ala293=)
c.1725A>T (p.Ala575=)
c.699A>T (p.Ala233=)
 gnomAD v4
2g.112008430G>ACA348233246MERTKc.1915G>A (p.Ala639Thr)
c.1387G>A (p.Ala463Thr)
c.*1388G>A (n.*1388G>A)
c.880G>A (p.Ala294Thr)
c.1726G>A (p.Ala576Thr)
c.700G>A (p.Ala234Thr)
2g.112008430G>CCA348233249MERTKc.1915G>C (p.Ala639Pro)
c.1387G>C (p.Ala463Pro)
c.*1388G>C (n.*1388G>C)
c.880G>C (p.Ala294Pro)
c.1726G>C (p.Ala576Pro)
c.700G>C (p.Ala234Pro)
2g.112008430G>TCA348233250MERTKc.1915G>T (p.Ala639Ser)
c.1387G>T (p.Ala463Ser)
c.*1388G>T (n.*1388G>T)
c.880G>T (p.Ala294Ser)
c.1726G>T (p.Ala576Ser)
c.700G>T (p.Ala234Ser)
2g.112008431C>ACA348233252MERTKc.1916C>A (p.Ala639Glu)
c.1388C>A (p.Ala463Glu)
c.*1389C>A (n.*1389C>A)
c.881C>A (p.Ala294Glu)
c.1727C>A (p.Ala576Glu)
c.701C>A (p.Ala234Glu)
2g.112008431C=CA1279571249MERTKc.1916C= (p.Ala639=)
c.1388C= (p.Ala463=)
c.*1389C= (n.*1389C=)
c.881C= (p.Ala294=)
c.1727C= (p.Ala576=)
c.701C= (p.Ala234=)
2g.112008431C>GCA348233253MERTKc.1916C>G (p.Ala639Gly)
c.1388C>G (p.Ala463Gly)
c.*1389C>G (n.*1389C>G)
c.881C>G (p.Ala294Gly)
c.1727C>G (p.Ala576Gly)
c.701C>G (p.Ala234Gly)
2g.112008431C>TCA348233255MERTKc.1916C>T (p.Ala639Val)
c.1388C>T (p.Ala463Val)
c.*1389C>T (n.*1389C>T)
c.881C>T (p.Ala294Val)
c.1727C>T (p.Ala576Val)
c.701C>T (p.Ala234Val)
 ClinVar dbSNP gnomAD v4
2g.112008432G>ACA428275229MERTKc.1917G>A (p.Ala639=)
c.1389G>A (p.Ala463=)
c.*1390G>A (n.*1390G>A)
c.882G>A (p.Ala294=)
c.1728G>A (p.Ala576=)
c.702G>A (p.Ala234=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.112008432G>CCA428275227MERTKc.1917G>C (p.Ala639=)
c.1389G>C (p.Ala463=)
c.*1390G>C (n.*1390G>C)
c.882G>C (p.Ala294=)
c.1728G>C (p.Ala576=)
c.702G>C (p.Ala234=)
2g.112008432G=CA1279571250MERTKc.1917G= (p.Ala639=)
c.1389G= (p.Ala463=)
c.*1390G= (n.*1390G=)
c.882G= (p.Ala294=)
c.1728G= (p.Ala576=)
c.702G= (p.Ala234=)
2g.112008432G>TCA428275228MERTKc.1917G>T (p.Ala639=)
c.1389G>T (p.Ala463=)
c.*1390G>T (n.*1390G>T)
c.882G>T (p.Ala294=)
c.1728G>T (p.Ala576=)
c.702G>T (p.Ala234=)
 dbSNP
2g.112008433T>ACA348233257MERTKc.1918T>A (p.Cys640Ser)
c.1390T>A (p.Cys464Ser)
c.*1391T>A (n.*1391T>A)
c.883T>A (p.Cys295Ser)
c.1729T>A (p.Cys577Ser)
c.703T>A (p.Cys235Ser)
2g.112008433T>CCA348233258MERTKc.1918T>C (p.Cys640Arg)
c.1390T>C (p.Cys464Arg)
c.*1391T>C (n.*1391T>C)
c.883T>C (p.Cys295Arg)
c.1729T>C (p.Cys577Arg)
c.703T>C (p.Cys235Arg)
2g.112008433T>GCA348233259MERTKc.1918T>G (p.Cys640Gly)
c.1390T>G (p.Cys464Gly)
c.*1391T>G (n.*1391T>G)
c.883T>G (p.Cys295Gly)
c.1729T>G (p.Cys577Gly)
c.703T>G (p.Cys235Gly)
2g.112008434G>ACA348233261MERTKc.1919G>A (p.Cys640Tyr)
c.1391G>A (p.Cys464Tyr)
c.*1392G>A (n.*1392G>A)
c.884G>A (p.Cys295Tyr)
c.1730G>A (p.Cys577Tyr)
c.704G>A (p.Cys235Tyr)
2g.112008434G>CCA348233263MERTKc.1919G>C (p.Cys640Ser)
c.1391G>C (p.Cys464Ser)
c.*1392G>C (n.*1392G>C)
c.884G>C (p.Cys295Ser)
c.1730G>C (p.Cys577Ser)
c.704G>C (p.Cys235Ser)
2g.112008434G>TCA348233265MERTKc.1919G>T (p.Cys640Phe)
c.1391G>T (p.Cys464Phe)
c.*1392G>T (n.*1392G>T)
c.884G>T (p.Cys295Phe)
c.1730G>T (p.Cys577Phe)
c.704G>T (p.Cys235Phe)
2g.112008435C>ACA348233268MERTKc.1920C>A (p.Cys640Ter)
c.1392C>A (p.Cys464Ter)
c.*1393C>A (n.*1393C>A)
c.885C>A (p.Cys295Ter)
c.1731C>A (p.Cys577Ter)
c.705C>A (p.Cys235Ter)
2g.112008435C>GCA348233266MERTKc.1920C>G (p.Cys640Trp)
c.1392C>G (p.Cys464Trp)
c.*1393C>G (n.*1393C>G)
c.885C>G (p.Cys295Trp)
c.1731C>G (p.Cys577Trp)
c.705C>G (p.Cys235Trp)
2g.112008435C>TCA428275230MERTKc.1920C>T (p.Cys640=)
c.1392C>T (p.Cys464=)
c.*1393C>T (n.*1393C>T)
c.885C>T (p.Cys295=)
c.1731C>T (p.Cys577=)
c.705C>T (p.Cys235=)
 gnomAD v4
2g.112008436A=CA1279571251MERTKc.1921A= (p.Met641=)
c.1393A= (p.Met465=)
c.*1394A= (n.*1394A=)
c.886A= (p.Met296=)
c.1732A= (p.Met578=)
c.706A= (p.Met236=)
2g.112008436A>CCA1831589MERTKc.1921A>C (p.Met641Leu)
c.1393A>C (p.Met465Leu)
c.*1394A>C (n.*1394A>C)
c.886A>C (p.Met296Leu)
c.1732A>C (p.Met578Leu)
c.706A>C (p.Met236Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.112008436A>GCA348233271MERTKc.1921A>G (p.Met641Val)
c.1393A>G (p.Met465Val)
c.*1394A>G (n.*1394A>G)
c.886A>G (p.Met296Val)
c.1732A>G (p.Met578Val)
c.706A>G (p.Met236Val)
 gnomAD v4
2g.112008436A>TCA348233273MERTKc.1921A>T (p.Met641Leu)
c.1393A>T (p.Met465Leu)
c.*1394A>T (n.*1394A>T)
c.886A>T (p.Met296Leu)
c.1732A>T (p.Met578Leu)
c.706A>T (p.Met236Leu)
2g.112008437T>ACA348233275MERTKc.1922T>A (p.Met641Lys)
c.1394T>A (p.Met465Lys)
c.*1395T>A (n.*1395T>A)
c.887T>A (p.Met296Lys)
c.1733T>A (p.Met578Lys)
c.707T>A (p.Met236Lys)
2g.112008437T>CCA1831590MERTKc.1922T>C (p.Met641Thr)
c.1394T>C (p.Met465Thr)
c.*1395T>C (n.*1395T>C)
c.887T>C (p.Met296Thr)
c.1733T>C (p.Met578Thr)
c.707T>C (p.Met236Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.112008437T>GCA348233277MERTKc.1922T>G (p.Met641Arg)
c.1394T>G (p.Met465Arg)
c.*1395T>G (n.*1395T>G)
c.887T>G (p.Met296Arg)
c.1733T>G (p.Met578Arg)
c.707T>G (p.Met236Arg)
2g.112008437T=CA1279571252MERTKc.1922T= (p.Met641=)
c.1394T= (p.Met465=)
c.*1395T= (n.*1395T=)
c.887T= (p.Met296=)
c.1733T= (p.Met578=)
c.707T= (p.Met236=)
2g.112008438G>ACA348233280MERTKc.1923G>A (p.Met641Ile)
c.1395G>A (p.Met465Ile)
c.*1396G>A (n.*1396G>A)
c.888G>A (p.Met296Ile)
c.1734G>A (p.Met578Ile)
c.708G>A (p.Met236Ile)
2g.112008438G>CCA348233281MERTKc.1923G>C (p.Met641Ile)
c.1395G>C (p.Met465Ile)
c.*1396G>C (n.*1396G>C)
c.888G>C (p.Met296Ile)
c.1734G>C (p.Met578Ile)
c.708G>C (p.Met236Ile)
2g.112008438G>TCA348233283MERTKc.1923G>T (p.Met641Ile)
c.1395G>T (p.Met465Ile)
c.*1396G>T (n.*1396G>T)
c.888G>T (p.Met296Ile)
c.1734G>T (p.Met578Ile)
c.708G>T (p.Met236Ile)
2g.112008439A>CCA348233285MERTKc.1924A>C (p.Lys642Gln)
c.1396A>C (p.Lys466Gln)
c.*1397A>C (n.*1397A>C)
c.889A>C (p.Lys297Gln)
c.1735A>C (p.Lys579Gln)
c.709A>C (p.Lys237Gln)
2g.112008439A>GCA348233286MERTKc.1924A>G (p.Lys642Glu)
c.1396A>G (p.Lys466Glu)
c.*1397A>G (n.*1397A>G)
c.889A>G (p.Lys297Glu)
c.1735A>G (p.Lys579Glu)
c.709A>G (p.Lys237Glu)
2g.112008439A>TCA348233287MERTKc.1924A>T (p.Lys642Ter)
c.1396A>T (p.Lys466Ter)
c.*1397A>T (n.*1397A>T)
c.889A>T (p.Lys297Ter)
c.1735A>T (p.Lys579Ter)
c.709A>T (p.Lys237Ter)
2g.112008440A=CA1279571253MERTKc.1925A= (p.Lys642=)
c.1397A= (p.Lys466=)
c.*1398A= (n.*1398A=)
c.890A= (p.Lys297=)
c.1736A= (p.Lys579=)
c.710A= (p.Lys237=)
2g.112008440A>CCA1831591MERTKc.1925A>C (p.Lys642Thr)
c.1397A>C (p.Lys466Thr)
c.*1398A>C (n.*1398A>C)
c.890A>C (p.Lys297Thr)
c.1736A>C (p.Lys579Thr)
c.710A>C (p.Lys237Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.112008440A>GCA348233291MERTKc.1925A>G (p.Lys642Arg)
c.1397A>G (p.Lys466Arg)
c.*1398A>G (n.*1398A>G)
c.890A>G (p.Lys297Arg)
c.1736A>G (p.Lys579Arg)
c.710A>G (p.Lys237Arg)
2g.112008440A>TCA348233289MERTKc.1925A>T (p.Lys642Ile)
c.1397A>T (p.Lys466Ile)
c.*1398A>T (n.*1398A>T)
c.890A>T (p.Lys297Ile)
c.1736A>T (p.Lys579Ile)
c.710A>T (p.Lys237Ile)
2g.112008441A=CA1279571254MERTKc.1926A= (p.Lys642=)
c.1398A= (p.Lys466=)
c.*1399A= (n.*1399A=)
c.891A= (p.Lys297=)
c.1737A= (p.Lys579=)
c.711A= (p.Lys237=)
2g.112008441A>CCA348233292MERTKc.1926A>C (p.Lys642Asn)
c.1398A>C (p.Lys466Asn)
c.*1399A>C (n.*1399A>C)
c.891A>C (p.Lys297Asn)
c.1737A>C (p.Lys579Asn)
c.711A>C (p.Lys237Asn)
2g.112008441A>GCA428275231MERTKc.1926A>G (p.Lys642=)
c.1398A>G (p.Lys466=)
c.*1399A>G (n.*1399A>G)
c.891A>G (p.Lys297=)
c.1737A>G (p.Lys579=)
c.711A>G (p.Lys237=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.112008441A>TCA348233294MERTKc.1926A>T (p.Lys642Asn)
c.1398A>T (p.Lys466Asn)
c.*1399A>T (n.*1399A>T)
c.891A>T (p.Lys297Asn)
c.1737A>T (p.Lys579Asn)
c.711A>T (p.Lys237Asn)
 gnomAD v4
2g.112008442G>ACA348233295MERTKc.1927G>A (p.Asp643Asn)
c.1399G>A (p.Asp467Asn)
c.*1400G>A (n.*1400G>A)
c.892G>A (p.Asp298Asn)
c.1738G>A (p.Asp580Asn)
c.712G>A (p.Asp238Asn)
2g.112008442G>CCA348233297MERTKc.1927G>C (p.Asp643His)
c.1399G>C (p.Asp467His)
c.*1400G>C (n.*1400G>C)
c.892G>C (p.Asp298His)
c.1738G>C (p.Asp580His)
c.712G>C (p.Asp238His)
 COSMIC COSMIC
2g.112008442G>TCA348233298MERTKc.1927G>T (p.Asp643Tyr)
c.1399G>T (p.Asp467Tyr)
c.*1400G>T (n.*1400G>T)
c.892G>T (p.Asp298Tyr)
c.1738G>T (p.Asp580Tyr)
c.712G>T (p.Asp238Tyr)
2g.112008443A>CCA348233301MERTKc.1928A>C (p.Asp643Ala)
c.1400A>C (p.Asp467Ala)
c.*1401A>C (n.*1401A>C)
c.893A>C (p.Asp298Ala)
c.1739A>C (p.Asp580Ala)
c.713A>C (p.Asp238Ala)
2g.112008443A>GCA348233299MERTKc.1928A>G (p.Asp643Gly)
c.1400A>G (p.Asp467Gly)
c.*1401A>G (n.*1401A>G)
c.893A>G (p.Asp298Gly)
c.1739A>G (p.Asp580Gly)
c.713A>G (p.Asp238Gly)
2g.112008443A>TCA348233300MERTKc.1928A>T (p.Asp643Val)
c.1400A>T (p.Asp467Val)
c.*1401A>T (n.*1401A>T)
c.893A>T (p.Asp298Val)
c.1739A>T (p.Asp580Val)
c.713A>T (p.Asp238Val)
2g.112008444C>ACA348233302MERTKc.1929C>A (p.Asp643Glu)
c.1401C>A (p.Asp467Glu)
c.*1402C>A (n.*1402C>A)
c.894C>A (p.Asp298Glu)
c.1740C>A (p.Asp580Glu)
c.714C>A (p.Asp238Glu)
2g.112008444C>GCA348233303MERTKc.1929C>G (p.Asp643Glu)
c.1401C>G (p.Asp467Glu)
c.*1402C>G (n.*1402C>G)
c.894C>G (p.Asp298Glu)
c.1740C>G (p.Asp580Glu)
c.714C>G (p.Asp238Glu)
2g.112008444C>TCA428275232MERTKc.1929C>T (p.Asp643=)
c.1401C>T (p.Asp467=)
c.*1402C>T (n.*1402C>T)
c.894C>T (p.Asp298=)
c.1740C>T (p.Asp580=)
c.714C>T (p.Asp238=)
2g.112008445T>ACA348233304MERTKc.1930T>A (p.Phe644Ile)
c.1402T>A (p.Phe468Ile)
c.*1403T>A (n.*1403T>A)
c.895T>A (p.Phe299Ile)
c.1741T>A (p.Phe581Ile)
c.715T>A (p.Phe239Ile)
2g.112008445T>CCA348233305MERTKc.1930T>C (p.Phe644Leu)
c.1402T>C (p.Phe468Leu)
c.*1403T>C (n.*1403T>C)
c.895T>C (p.Phe299Leu)
c.1741T>C (p.Phe581Leu)
c.715T>C (p.Phe239Leu)
2g.112008445T>GCA348233306MERTKc.1930T>G (p.Phe644Val)
c.1402T>G (p.Phe468Val)
c.*1403T>G (n.*1403T>G)
c.895T>G (p.Phe299Val)
c.1741T>G (p.Phe581Val)
c.715T>G (p.Phe239Val)
2g.112008446T>ACA348233308MERTKc.1931T>A (p.Phe644Tyr)
c.1403T>A (p.Phe468Tyr)
c.*1404T>A (n.*1404T>A)
c.896T>A (p.Phe299Tyr)
c.1742T>A (p.Phe581Tyr)
c.716T>A (p.Phe239Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.112008446T>CCA348233307MERTKc.1931T>C (p.Phe644Ser)
c.1403T>C (p.Phe468Ser)
c.*1404T>C (n.*1404T>C)
c.896T>C (p.Phe299Ser)
c.1742T>C (p.Phe581Ser)
c.716T>C (p.Phe239Ser)
2g.112008446T>GCA1831592MERTKc.1931T>G (p.Phe644Cys)
c.1403T>G (p.Phe468Cys)
c.*1404T>G (n.*1404T>G)
c.896T>G (p.Phe299Cys)
c.1742T>G (p.Phe581Cys)
c.716T>G (p.Phe239Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.112008446T=CA1279571255MERTKc.1931T= (p.Phe644=)
c.1403T= (p.Phe468=)
c.*1404T= (n.*1404T=)
c.896T= (p.Phe299=)
c.1742T= (p.Phe581=)
c.716T= (p.Phe239=)
2g.112008447C>ACA348233311MERTKc.1932C>A (p.Phe644Leu)
c.1404C>A (p.Phe468Leu)
c.*1405C>A (n.*1405C>A)
c.897C>A (p.Phe299Leu)
c.1743C>A (p.Phe581Leu)
c.717C>A (p.Phe239Leu)
2g.112008447C>GCA348233312MERTKc.1932C>G (p.Phe644Leu)
c.1404C>G (p.Phe468Leu)
c.*1405C>G (n.*1405C>G)
c.897C>G (p.Phe299Leu)
c.1743C>G (p.Phe581Leu)
c.717C>G (p.Phe239Leu)
 COSMIC COSMIC
2g.112008447C>TCA428275233MERTKc.1932C>T (p.Phe644=)
c.1404C>T (p.Phe468=)
c.*1405C>T (n.*1405C>T)
c.897C>T (p.Phe299=)
c.1743C>T (p.Phe581=)
c.717C>T (p.Phe239=)
 ClinVar dbSNP gnomAD v4
2g.112008448A=CA1279571256MERTKc.1933A= (p.Ser645=)
c.1405A= (p.Ser469=)
c.*1406A= (n.*1406A=)
c.898A= (p.Ser300=)
c.1744A= (p.Ser582=)
c.718A= (p.Ser240=)
2g.112008448A>CCA348233314MERTKc.1933A>C (p.Ser645Arg)
c.1405A>C (p.Ser469Arg)
c.*1406A>C (n.*1406A>C)
c.898A>C (p.Ser300Arg)
c.1744A>C (p.Ser582Arg)
c.718A>C (p.Ser240Arg)
2g.112008448A>GCA348233316MERTKc.1933A>G (p.Ser645Gly)
c.1405A>G (p.Ser469Gly)
c.*1406A>G (n.*1406A>G)
c.898A>G (p.Ser300Gly)
c.1744A>G (p.Ser582Gly)
c.718A>G (p.Ser240Gly)
 dbSNP gnomAD v4
2g.112008448A>TCA348233319MERTKc.1933A>T (p.Ser645Cys)
c.1405A>T (p.Ser469Cys)
c.*1406A>T (n.*1406A>T)
c.898A>T (p.Ser300Cys)
c.1744A>T (p.Ser582Cys)
c.718A>T (p.Ser240Cys)
2g.112008449G>ACA348233322MERTKc.1934G>A (p.Ser645Asn)
c.1406G>A (p.Ser469Asn)
c.*1407G>A (n.*1407G>A)
c.899G>A (p.Ser300Asn)
c.1745G>A (p.Ser582Asn)
c.719G>A (p.Ser240Asn)
2g.112008449G>CCA348233324MERTKc.1934G>C (p.Ser645Thr)
c.1406G>C (p.Ser469Thr)
c.*1407G>C (n.*1407G>C)
c.899G>C (p.Ser300Thr)
c.1745G>C (p.Ser582Thr)
c.719G>C (p.Ser240Thr)
2g.112008449G>TCA348233325MERTKc.1934G>T (p.Ser645Ile)
c.1406G>T (p.Ser469Ile)
c.*1407G>T (n.*1407G>T)
c.899G>T (p.Ser300Ile)
c.1745G>T (p.Ser582Ile)
c.719G>T (p.Ser240Ile)
2g.112008450_112008484delCA2697551016MERTKc.1935_1960+9del
c.1407_1432+9del
c.*1408_*1433+9del
c.900_925+9del
c.1746_1771+9del
c.720_745+9del
 ClinVar
2g.112008450C>ACA348233328MERTKc.1935C>A (p.Ser645Arg)
c.1407C>A (p.Ser469Arg)
c.*1408C>A (n.*1408C>A)
c.900C>A (p.Ser300Arg)
c.1746C>A (p.Ser582Arg)
c.720C>A (p.Ser240Arg)
2g.112008450C>GCA348233329MERTKc.1935C>G (p.Ser645Arg)
c.1407C>G (p.Ser469Arg)
c.*1408C>G (n.*1408C>G)
c.900C>G (p.Ser300Arg)
c.1746C>G (p.Ser582Arg)
c.720C>G (p.Ser240Arg)
2g.112008450C>TCA428275234MERTKc.1935C>T (p.Ser645=)
c.1407C>T (p.Ser469=)
c.*1408C>T (n.*1408C>T)
c.900C>T (p.Ser300=)
c.1746C>T (p.Ser582=)
c.720C>T (p.Ser240=)
2g.112008451C>ACA348233330MERTKc.1936C>A (p.His646Asn)
c.1408C>A (p.His470Asn)
c.*1409C>A (n.*1409C>A)
c.901C>A (p.His301Asn)
c.1747C>A (p.His583Asn)
c.721C>A (p.His241Asn)
2g.112008451C>GCA348233332MERTKc.1936C>G (p.His646Asp)
c.1408C>G (p.His470Asp)
c.*1409C>G (n.*1409C>G)
c.901C>G (p.His301Asp)
c.1747C>G (p.His583Asp)
c.721C>G (p.His241Asp)
2g.112008451C>TCA348233333MERTKc.1936C>T (p.His646Tyr)
c.1408C>T (p.His470Tyr)
c.*1409C>T (n.*1409C>T)
c.901C>T (p.His301Tyr)
c.1747C>T (p.His583Tyr)
c.721C>T (p.His241Tyr)
2g.112008452A>CCA348233334MERTKc.1937A>C (p.His646Pro)
c.1409A>C (p.His470Pro)
c.*1410A>C (n.*1410A>C)
c.902A>C (p.His301Pro)
c.1748A>C (p.His583Pro)
c.722A>C (p.His241Pro)
2g.112008452A>GCA348233335MERTKc.1937A>G (p.His646Arg)
c.1409A>G (p.His470Arg)
c.*1410A>G (n.*1410A>G)
c.902A>G (p.His301Arg)
c.1748A>G (p.His583Arg)
c.722A>G (p.His241Arg)
2g.112008452A>TCA348233336MERTKc.1937A>T (p.His646Leu)
c.1409A>T (p.His470Leu)
c.*1410A>T (n.*1410A>T)
c.902A>T (p.His301Leu)
c.1748A>T (p.His583Leu)
c.722A>T (p.His241Leu)
2g.112008453C>ACA348233340MERTKc.1938C>A (p.His646Gln)
c.1410C>A (p.His470Gln)
c.*1411C>A (n.*1411C>A)
c.903C>A (p.His301Gln)
c.1749C>A (p.His583Gln)
c.723C>A (p.His241Gln)
2g.112008453C=CA1279571257MERTKc.1938C= (p.His646=)
c.1410C= (p.His470=)
c.*1411C= (n.*1411C=)
c.903C= (p.His301=)
c.1749C= (p.His583=)
c.723C= (p.His241=)
2g.112008453C>GCA348233338MERTKc.1938C>G (p.His646Gln)
c.1410C>G (p.His470Gln)
c.*1411C>G (n.*1411C>G)
c.903C>G (p.His301Gln)
c.1749C>G (p.His583Gln)
c.723C>G (p.His241Gln)
2g.112008453C>TCA428275235MERTKc.1938C>T (p.His646=)
c.1410C>T (p.His470=)
c.*1411C>T (n.*1411C>T)
c.903C>T (p.His301=)
c.1749C>T (p.His583=)
c.723C>T (p.His241=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.112008454C>ACA348233341MERTKc.1939C>A (p.Pro647Thr)
c.1411C>A (p.Pro471Thr)
c.*1412C>A (n.*1412C>A)
c.904C>A (p.Pro302Thr)
c.1750C>A (p.Pro584Thr)
c.724C>A (p.Pro242Thr)
2g.112008454C=CA1279571258MERTKc.1939C= (p.Pro647=)
c.1411C= (p.Pro471=)
c.*1412C= (n.*1412C=)
c.904C= (p.Pro302=)
c.1750C= (p.Pro584=)
c.724C= (p.Pro242=)
2g.112008454C>GCA348233343MERTKc.1939C>G (p.Pro647Ala)
c.1411C>G (p.Pro471Ala)
c.*1412C>G (n.*1412C>G)
c.904C>G (p.Pro302Ala)
c.1750C>G (p.Pro584Ala)
c.724C>G (p.Pro242Ala)
2g.112008454C>TCA348233350MERTKc.1939C>T (p.Pro647Ser)
c.1411C>T (p.Pro471Ser)
c.*1412C>T (n.*1412C>T)
c.904C>T (p.Pro302Ser)
c.1750C>T (p.Pro584Ser)
c.724C>T (p.Pro242Ser)
 ClinVar dbSNP gnomAD v4
2g.112008455C>ACA348233351MERTKc.1940C>A (p.Pro647Gln)
c.1412C>A (p.Pro471Gln)
c.*1413C>A (n.*1413C>A)
c.905C>A (p.Pro302Gln)
c.1751C>A (p.Pro584Gln)
c.725C>A (p.Pro242Gln)
2g.112008455C=CA1279571259MERTKc.1940C= (p.Pro647=)
c.1412C= (p.Pro471=)
c.*1413C= (n.*1413C=)
c.905C= (p.Pro302=)
c.1751C= (p.Pro584=)
c.725C= (p.Pro242=)
2g.112008455C>GCA348233353MERTKc.1940C>G (p.Pro647Arg)
c.1412C>G (p.Pro471Arg)
c.*1413C>G (n.*1413C>G)
c.905C>G (p.Pro302Arg)
c.1751C>G (p.Pro584Arg)
c.725C>G (p.Pro242Arg)
2g.112008455C>TCA348233355MERTKc.1940C>T (p.Pro647Leu)
c.1412C>T (p.Pro471Leu)
c.*1413C>T (n.*1413C>T)
c.905C>T (p.Pro302Leu)
c.1751C>T (p.Pro584Leu)
c.725C>T (p.Pro242Leu)
 ClinVar dbSNP gnomAD v4
2g.112008456A>CCA428275236MERTKc.1941A>C (p.Pro647=)
c.1413A>C (p.Pro471=)
c.*1414A>C (n.*1414A>C)
c.906A>C (p.Pro302=)
c.1752A>C (p.Pro584=)
c.726A>C (p.Pro242=)
2g.112008456A>GCA428275237MERTKc.1941A>G (p.Pro647=)
c.1413A>G (p.Pro471=)
c.*1414A>G (n.*1414A>G)
c.906A>G (p.Pro302=)
c.1752A>G (p.Pro584=)
c.726A>G (p.Pro242=)
2g.112008456A>TCA428275238MERTKc.1941A>T (p.Pro647=)
c.1413A>T (p.Pro471=)
c.*1414A>T (n.*1414A>T)
c.906A>T (p.Pro302=)
c.1752A>T (p.Pro584=)
c.726A>T (p.Pro242=)
2g.112008457A=CA1279571260MERTKc.1942A= (p.Asn648=)
c.1414A= (p.Asn472=)
c.*1415A= (n.*1415A=)
c.907A= (p.Asn303=)
c.1753A= (p.Asn585=)
c.727A= (p.Asn243=)
2g.112008457A>CCA1831593MERTKc.1942A>C (p.Asn648His)
c.1414A>C (p.Asn472His)
c.*1415A>C (n.*1415A>C)
c.907A>C (p.Asn303His)
c.1753A>C (p.Asn585His)
c.727A>C (p.Asn243His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008457A>GCA348233356MERTKc.1942A>G (p.Asn648Asp)
c.1414A>G (p.Asn472Asp)
c.*1415A>G (n.*1415A>G)
c.907A>G (p.Asn303Asp)
c.1753A>G (p.Asn585Asp)
c.727A>G (p.Asn243Asp)
 gnomAD v4
2g.112008457A>TCA348233357MERTKc.1942A>T (p.Asn648Tyr)
c.1414A>T (p.Asn472Tyr)
c.*1415A>T (n.*1415A>T)
c.907A>T (p.Asn303Tyr)
c.1753A>T (p.Asn585Tyr)
c.727A>T (p.Asn243Tyr)
2g.112008458A>CCA348233361MERTKc.1943A>C (p.Asn648Thr)
c.1415A>C (p.Asn472Thr)
c.*1416A>C (n.*1416A>C)
c.908A>C (p.Asn303Thr)
c.1754A>C (p.Asn585Thr)
c.728A>C (p.Asn243Thr)
2g.112008458A>GCA348233362MERTKc.1943A>G (p.Asn648Ser)
c.1415A>G (p.Asn472Ser)
c.*1416A>G (n.*1416A>G)
c.908A>G (p.Asn303Ser)
c.1754A>G (p.Asn585Ser)
c.728A>G (p.Asn243Ser)
2g.112008458A>TCA348233364MERTKc.1943A>T (p.Asn648Ile)
c.1415A>T (p.Asn472Ile)
c.*1416A>T (n.*1416A>T)
c.908A>T (p.Asn303Ile)
c.1754A>T (p.Asn585Ile)
c.728A>T (p.Asn243Ile)
2g.112008459T>ACA348233366MERTKc.1944T>A (p.Asn648Lys)
c.1416T>A (p.Asn472Lys)
c.*1417T>A (n.*1417T>A)
c.909T>A (p.Asn303Lys)
c.1755T>A (p.Asn585Lys)
c.729T>A (p.Asn243Lys)
2g.112008459T>CCA428275239MERTKc.1944T>C (p.Asn648=)
c.1416T>C (p.Asn472=)
c.*1417T>C (n.*1417T>C)
c.909T>C (p.Asn303=)
c.1755T>C (p.Asn585=)
c.729T>C (p.Asn243=)
2g.112008459T>GCA348233368MERTKc.1944T>G (p.Asn648Lys)
c.1416T>G (p.Asn472Lys)
c.*1417T>G (n.*1417T>G)
c.909T>G (p.Asn303Lys)
c.1755T>G (p.Asn585Lys)
c.729T>G (p.Asn243Lys)
2g.112008460G>ACA348233369MERTKc.1945G>A (p.Val649Ile)
c.1417G>A (p.Val473Ile)
c.*1418G>A (n.*1418G>A)
c.910G>A (p.Val304Ile)
c.1756G>A (p.Val586Ile)
c.730G>A (p.Val244Ile)
2g.112008460G>CCA348233371MERTKc.1945G>C (p.Val649Leu)
c.1417G>C (p.Val473Leu)
c.*1418G>C (n.*1418G>C)
c.910G>C (p.Val304Leu)
c.1756G>C (p.Val586Leu)
c.730G>C (p.Val244Leu)
2g.112008460G>TCA348233370MERTKc.1945G>T (p.Val649Phe)
c.1417G>T (p.Val473Phe)
c.*1418G>T (n.*1418G>T)
c.910G>T (p.Val304Phe)
c.1756G>T (p.Val586Phe)
c.730G>T (p.Val244Phe)
2g.112008461T>ACA348233378MERTKc.1946T>A (p.Val649Asp)
c.1418T>A (p.Val473Asp)
c.*1419T>A (n.*1419T>A)
c.911T>A (p.Val304Asp)
c.1757T>A (p.Val586Asp)
c.731T>A (p.Val244Asp)
2g.112008461T>CCA348233379MERTKc.1946T>C (p.Val649Ala)
c.1418T>C (p.Val473Ala)
c.*1419T>C (n.*1419T>C)
c.911T>C (p.Val304Ala)
c.1757T>C (p.Val586Ala)
c.731T>C (p.Val244Ala)
2g.112008461T>GCA348233380MERTKc.1946T>G (p.Val649Gly)
c.1418T>G (p.Val473Gly)
c.*1419T>G (n.*1419T>G)
c.911T>G (p.Val304Gly)
c.1757T>G (p.Val586Gly)
c.731T>G (p.Val244Gly)
2g.112008462C>ACA428275240MERTKc.1947C>A (p.Val649=)
c.1419C>A (p.Val473=)
c.*1420C>A (n.*1420C>A)
c.912C>A (p.Val304=)
c.1758C>A (p.Val586=)
c.732C>A (p.Val244=)
2g.112008462C>GCA428275241MERTKc.1947C>G (p.Val649=)
c.1419C>G (p.Val473=)
c.*1420C>G (n.*1420C>G)
c.912C>G (p.Val304=)
c.1758C>G (p.Val586=)
c.732C>G (p.Val244=)
2g.112008462C>TCA428275242MERTKc.1947C>T (p.Val649=)
c.1419C>T (p.Val473=)
c.*1420C>T (n.*1420C>T)
c.912C>T (p.Val304=)
c.1758C>T (p.Val586=)
c.732C>T (p.Val244=)
2g.112008463A>CCA348233382MERTKc.1948A>C (p.Ile650Leu)
c.1420A>C (p.Ile474Leu)
c.*1421A>C (n.*1421A>C)
c.913A>C (p.Ile305Leu)
c.1759A>C (p.Ile587Leu)
c.733A>C (p.Ile245Leu)
 gnomAD v4
2g.112008463A>GCA348233384MERTKc.1948A>G (p.Ile650Val)
c.1420A>G (p.Ile474Val)
c.*1421A>G (n.*1421A>G)
c.913A>G (p.Ile305Val)
c.1759A>G (p.Ile587Val)
c.733A>G (p.Ile245Val)
2g.112008463A>TCA348233386MERTKc.1948A>T (p.Ile650Phe)
c.1420A>T (p.Ile474Phe)
c.*1421A>T (n.*1421A>T)
c.913A>T (p.Ile305Phe)
c.1759A>T (p.Ile587Phe)
c.733A>T (p.Ile245Phe)
 ClinVar
2g.112008464T>ACA348233387MERTKc.1949T>A (p.Ile650Asn)
c.1421T>A (p.Ile474Asn)
c.*1422T>A (n.*1422T>A)
c.914T>A (p.Ile305Asn)
c.1760T>A (p.Ile587Asn)
c.734T>A (p.Ile245Asn)
2g.112008464T>CCA348233390MERTKc.1949T>C (p.Ile650Thr)
c.1421T>C (p.Ile474Thr)
c.*1422T>C (n.*1422T>C)
c.914T>C (p.Ile305Thr)
c.1760T>C (p.Ile587Thr)
c.734T>C (p.Ile245Thr)
2g.112008464T>GCA348233392MERTKc.1949T>G (p.Ile650Ser)
c.1421T>G (p.Ile474Ser)
c.*1422T>G (n.*1422T>G)
c.914T>G (p.Ile305Ser)
c.1760T>G (p.Ile587Ser)
c.734T>G (p.Ile245Ser)
2g.112008465T>ACA428275243MERTKc.1950T>A (p.Ile650=)
c.1422T>A (p.Ile474=)
c.*1423T>A (n.*1423T>A)
c.915T>A (p.Ile305=)
c.1761T>A (p.Ile587=)
c.735T>A (p.Ile245=)
2g.112008465T>CCA428275244MERTKc.1950T>C (p.Ile650=)
c.1422T>C (p.Ile474=)
c.*1423T>C (n.*1423T>C)
c.915T>C (p.Ile305=)
c.1761T>C (p.Ile587=)
c.735T>C (p.Ile245=)
2g.112008465T>GCA348233393MERTKc.1950T>G (p.Ile650Met)
c.1422T>G (p.Ile474Met)
c.*1423T>G (n.*1423T>G)
c.915T>G (p.Ile305Met)
c.1761T>G (p.Ile587Met)
c.735T>G (p.Ile245Met)
2g.112008466C>ACA428275245MERTKc.1951C>A (p.Arg651=)
c.1423C>A (p.Arg475=)
c.*1424C>A (n.*1424C>A)
c.916C>A (p.Arg306=)
c.1762C>A (p.Arg588=)
c.736C>A (p.Arg246=)
2g.112008466C=CA1279571261MERTKc.1951C= (p.Arg651=)
c.1423C= (p.Arg475=)
c.*1424C= (n.*1424C=)
c.916C= (p.Arg306=)
c.1762C= (p.Arg588=)
c.736C= (p.Arg246=)
2g.112008466C>GCA348233395MERTKc.1951C>G (p.Arg651Gly)
c.1423C>G (p.Arg475Gly)
c.*1424C>G (n.*1424C>G)
c.916C>G (p.Arg306Gly)
c.1762C>G (p.Arg588Gly)
c.736C>G (p.Arg246Gly)
2g.112008466C>TCA253474MERTKc.1951C>T (p.Arg651Ter)
c.1423C>T (p.Arg475Ter)
c.*1424C>T (n.*1424C>T)
c.916C>T (p.Arg306Ter)
c.1762C>T (p.Arg588Ter)
c.736C>T (p.Arg246Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.112008467G>ACA1831594MERTKc.1952G>A (p.Arg651Gln)
c.1424G>A (p.Arg475Gln)
c.*1425G>A (n.*1425G>A)
c.917G>A (p.Arg306Gln)
c.1763G>A (p.Arg588Gln)
c.737G>A (p.Arg246Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.112008467G>CCA348233399MERTKc.1952G>C (p.Arg651Pro)
c.1424G>C (p.Arg475Pro)
c.*1425G>C (n.*1425G>C)
c.917G>C (p.Arg306Pro)
c.1763G>C (p.Arg588Pro)
c.737G>C (p.Arg246Pro)
2g.112008467G=CA1279571262MERTKc.1952G= (p.Arg651=)
c.1424G= (p.Arg475=)
c.*1425G= (n.*1425G=)
c.917G= (p.Arg306=)
c.1763G= (p.Arg588=)
c.737G= (p.Arg246=)
2g.112008467G>TCA348233400MERTKc.1952G>T (p.Arg651Leu)
c.1424G>T (p.Arg475Leu)
c.*1425G>T (n.*1425G>T)
c.917G>T (p.Arg306Leu)
c.1763G>T (p.Arg588Leu)
c.737G>T (p.Arg246Leu)
2g.112008468A=CA1279571263MERTKc.1953A= (p.Arg651=)
c.1425A= (p.Arg475=)
c.*1426A= (n.*1426A=)
c.918A= (p.Arg306=)
c.1764A= (p.Arg588=)
c.738A= (p.Arg246=)
2g.112008468A>CCA428275246MERTKc.1953A>C (p.Arg651=)
c.1425A>C (p.Arg475=)
c.*1426A>C (n.*1426A>C)
c.918A>C (p.Arg306=)
c.1764A>C (p.Arg588=)
c.738A>C (p.Arg246=)
2g.112008468A>GCA428275247MERTKc.1953A>G (p.Arg651=)
c.1425A>G (p.Arg475=)
c.*1426A>G (n.*1426A>G)
c.918A>G (p.Arg306=)
c.1764A>G (p.Arg588=)
c.738A>G (p.Arg246=)
2g.112008468A>TCA428275248MERTKc.1953A>T (p.Arg651=)
c.1425A>T (p.Arg475=)
c.*1426A>T (n.*1426A>T)
c.918A>T (p.Arg306=)
c.1764A>T (p.Arg588=)
c.738A>T (p.Arg246=)
 dbSNP
2g.112008469C>ACA348233402MERTKc.1954C>A (p.Leu652Ile)
c.1426C>A (p.Leu476Ile)
c.*1427C>A (n.*1427C>A)
c.919C>A (p.Leu307Ile)
c.1765C>A (p.Leu589Ile)
c.739C>A (p.Leu247Ile)
2g.112008469C>GCA348233404MERTKc.1954C>G (p.Leu652Val)
c.1426C>G (p.Leu476Val)
c.*1427C>G (n.*1427C>G)
c.919C>G (p.Leu307Val)
c.1765C>G (p.Leu589Val)
c.739C>G (p.Leu247Val)
2g.112008469C>TCA348233406MERTKc.1954C>T (p.Leu652Phe)
c.1426C>T (p.Leu476Phe)
c.*1427C>T (n.*1427C>T)
c.919C>T (p.Leu307Phe)
c.1765C>T (p.Leu589Phe)
c.739C>T (p.Leu247Phe)
 gnomAD v4
2g.112008470T>ACA348233410MERTKc.1955T>A (p.Leu652His)
c.1427T>A (p.Leu476His)
c.*1428T>A (n.*1428T>A)
c.920T>A (p.Leu307His)
c.1766T>A (p.Leu589His)
c.740T>A (p.Leu247His)
2g.112008470T>CCA348233411MERTKc.1955T>C (p.Leu652Pro)
c.1427T>C (p.Leu476Pro)
c.*1428T>C (n.*1428T>C)
c.920T>C (p.Leu307Pro)
c.1766T>C (p.Leu589Pro)
c.740T>C (p.Leu247Pro)
2g.112008470T>GCA348233415MERTKc.1955T>G (p.Leu652Arg)
c.1427T>G (p.Leu476Arg)
c.*1428T>G (n.*1428T>G)
c.920T>G (p.Leu307Arg)
c.1766T>G (p.Leu589Arg)
c.740T>G (p.Leu247Arg)
2g.112008477_112008723delCA2751719910MERTKc.1960+2_1960+248del
c.1432+2_1432+248del
c.*1433+2_*1433+248del
c.925+2_926-79del
c.1771+2_1771+248del
c.745+2_745+248del
2g.112008471T>ACA428275250MERTKc.1956T>A (p.Leu652=)
c.1428T>A (p.Leu476=)
c.*1429T>A (n.*1429T>A)
c.921T>A (p.Leu307=)
c.1767T>A (p.Leu589=)
c.741T>A (p.Leu247=)
2g.112008471T>CCA428275251MERTKc.1956T>C (p.Leu652=)
c.1428T>C (p.Leu476=)
c.*1429T>C (n.*1429T>C)
c.921T>C (p.Leu307=)
c.1767T>C (p.Leu589=)
c.741T>C (p.Leu247=)
2g.112008471T>GCA428275249MERTKc.1956T>G (p.Leu652=)
c.1428T>G (p.Leu476=)
c.*1429T>G (n.*1429T>G)
c.921T>G (p.Leu307=)
c.1767T>G (p.Leu589=)
c.741T>G (p.Leu247=)
2g.112008472C>ACA348233416MERTKc.1957C>A (p.Leu653Ile)
c.1429C>A (p.Leu477Ile)
c.*1430C>A (n.*1430C>A)
c.922C>A (p.Leu308Ile)
c.1768C>A (p.Leu590Ile)
c.742C>A (p.Leu248Ile)
2g.112008472C=CA1279571264MERTKc.1957C= (p.Leu653=)
c.1429C= (p.Leu477=)
c.*1430C= (n.*1430C=)
c.922C= (p.Leu308=)
c.1768C= (p.Leu590=)
c.742C= (p.Leu248=)
2g.112008472C>GCA348233418MERTKc.1957C>G (p.Leu653Val)
c.1429C>G (p.Leu477Val)
c.*1430C>G (n.*1430C>G)
c.922C>G (p.Leu308Val)
c.1768C>G (p.Leu590Val)
c.742C>G (p.Leu248Val)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.112008472C>TCA428275252MERTKc.1957C>T (p.Leu653=)
c.1429C>T (p.Leu477=)
c.*1430C>T (n.*1430C>T)
c.922C>T (p.Leu308=)
c.1768C>T (p.Leu590=)
c.742C>T (p.Leu248=)
2g.112008473T>ACA348233420MERTKc.1958T>A (p.Leu653Gln)
c.1430T>A (p.Leu477Gln)
c.*1431T>A (n.*1431T>A)
c.923T>A (p.Leu308Gln)
c.1769T>A (p.Leu590Gln)
c.743T>A (p.Leu248Gln)
2g.112008473T>CCA53582433MERTKc.1958T>C (p.Leu653Pro)
c.1430T>C (p.Leu477Pro)
c.*1431T>C (n.*1431T>C)
c.923T>C (p.Leu308Pro)
c.1769T>C (p.Leu590Pro)
c.743T>C (p.Leu248Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.112008473T>GCA348233423MERTKc.1958T>G (p.Leu653Arg)
c.1430T>G (p.Leu477Arg)
c.*1431T>G (n.*1431T>G)
c.923T>G (p.Leu308Arg)
c.1769T>G (p.Leu590Arg)
c.743T>G (p.Leu248Arg)
2g.112008473T=CA1279571265MERTKc.1958T= (p.Leu653=)
c.1430T= (p.Leu477=)
c.*1431T= (n.*1431T=)
c.923T= (p.Leu308=)
c.1769T= (p.Leu590=)
c.743T= (p.Leu248=)
2g.112008474A>CCA428275255MERTKc.1959A>C (p.Leu653=)
c.1431A>C (p.Leu477=)
c.*1432A>C (n.*1432A>C)
c.924A>C (p.Leu308=)
c.1770A>C (p.Leu590=)
c.744A>C (p.Leu248=)
2g.112008474A>GCA428275254MERTKc.1959A>G (p.Leu653=)
c.1431A>G (p.Leu477=)
c.*1432A>G (n.*1432A>G)
c.924A>G (p.Leu308=)
c.1770A>G (p.Leu590=)
c.744A>G (p.Leu248=)
 gnomAD v4
2g.112008474A>TCA428275253MERTKc.1959A>T (p.Leu653=)
c.1431A>T (p.Leu477=)
c.*1432A>T (n.*1432A>T)
c.924A>T (p.Leu308=)
c.1770A>T (p.Leu590=)
c.744A>T (p.Leu248=)
2g.112008475G>ACA348233429MERTKc.1960G>A (p.Gly654Ser)
c.1432G>A (p.Gly478Ser)
c.*1433G>A (n.*1433G>A)
c.925G>A (p.Gly309Arg)
c.1771G>A (p.Gly591Ser)
c.745G>A (p.Gly249Ser)
2g.112008475G>CCA348233427MERTKc.1960G>C (p.Gly654Arg)
c.1432G>C (p.Gly478Arg)
c.*1433G>C (n.*1433G>C)
c.925G>C (p.Gly309Arg)
c.1771G>C (p.Gly591Arg)
c.745G>C (p.Gly249Arg)
2g.112008475G=CA1279571266MERTKc.1960G= (p.Gly654=)
c.1432G= (p.Gly478=)
c.*1433G= (n.*1433G=)
c.925G= (p.Gly309=)
c.1771G= (p.Gly591=)
c.745G= (p.Gly249=)
2g.112008475G>TCA348233425MERTKc.1960G>T (p.Gly654Cys)
c.1432G>T (p.Gly478Cys)
c.*1433G>T (n.*1433G>T)
c.925G>T (p.Gly309Trp)
c.1771G>T (p.Gly591Cys)
c.745G>T (p.Gly249Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.112008476G>ACA348233430MERTKc.1960+1G>A (n.1960+1G>A)
c.1432+1G>A (n.1432+1G>A)
c.*1433+1G>A (n.*1433+1G>A)
c.925+1G>A (n.925+1G>A)
c.1771+1G>A (n.1771+1G>A)
c.745+1G>A (n.745+1G>A)
2g.112008476G>CCA348233434MERTKc.1960+1G>C (n.1960+1G>C)
c.1432+1G>C (n.1432+1G>C)
c.*1433+1G>C (n.*1433+1G>C)
c.925+1G>C (n.925+1G>C)
c.1771+1G>C (n.1771+1G>C)
c.745+1G>C (n.745+1G>C)
2g.112008476G=CA1279571267MERTKc.1960+1G= (n.1960+1G=)
c.1432+1G= (n.1432+1G=)
c.*1433+1G= (n.*1433+1G=)
c.925+1G= (n.925+1G=)
c.1771+1G= (n.1771+1G=)
c.745+1G= (n.745+1G=)
2g.112008476G>TCA348233432MERTKc.1960+1G>T (n.1960+1G>T)
c.1432+1G>T (n.1432+1G>T)
c.*1433+1G>T (n.*1433+1G>T)
c.925+1G>T (n.925+1G>T)
c.1771+1G>T (n.1771+1G>T)
c.745+1G>T (n.745+1G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.112008477T>ACA348233436MERTKc.1960+2T>A (n.1960+2T>A)
c.1432+2T>A (n.1432+2T>A)
c.*1433+2T>A (n.*1433+2T>A)
c.925+2T>A (n.925+2T>A)
c.1771+2T>A (n.1771+2T>A)
c.745+2T>A (n.745+2T>A)
2g.112008477T>CCA348233441MERTKc.1960+2T>C (n.1960+2T>C)
c.1432+2T>C (n.1432+2T>C)
c.*1433+2T>C (n.*1433+2T>C)
c.925+2T>C (n.925+2T>C)
c.1771+2T>C (n.1771+2T>C)
c.745+2T>C (n.745+2T>C)
 gnomAD v4
2g.112008477T>GCA348233444MERTKc.1960+2T>G (n.1960+2T>G)
c.1432+2T>G (n.1432+2T>G)
c.*1433+2T>G (n.*1433+2T>G)
c.925+2T>G (n.925+2T>G)
c.1771+2T>G (n.1771+2T>G)
c.745+2T>G (n.745+2T>G)
2g.112008478A>CCA2739770953MERTKc.1960+3A>C (n.1960+3A>C)
c.1432+3A>C (n.1432+3A>C)
c.*1433+3A>C (n.*1433+3A>C)
c.925+3A>C (n.925+3A>C)
c.1771+3A>C (n.1771+3A>C)
c.745+3A>C (n.745+3A>C)
2g.112008478A>GCA2739770954MERTKc.1960+3A>G (n.1960+3A>G)
c.1432+3A>G (n.1432+3A>G)
c.*1433+3A>G (n.*1433+3A>G)
c.925+3A>G (n.925+3A>G)
c.1771+3A>G (n.1771+3A>G)
c.745+3A>G (n.745+3A>G)
2g.112008478A>TCA2739770955MERTKc.1960+3A>T (n.1960+3A>T)
c.1432+3A>T (n.1432+3A>T)
c.*1433+3A>T (n.*1433+3A>T)
c.925+3A>T (n.925+3A>T)
c.1771+3A>T (n.1771+3A>T)
c.745+3A>T (n.745+3A>T)
2g.112008479C>ACA2739770956MERTKc.1960+4C>A (n.1960+4C>A)
c.1432+4C>A (n.1432+4C>A)
c.*1433+4C>A (n.*1433+4C>A)
c.925+4C>A (n.925+4C>A)
c.1771+4C>A (n.1771+4C>A)
c.745+4C>A (n.745+4C>A)
2g.112008479C>GCA2739770957MERTKc.1960+4C>G (n.1960+4C>G)
c.1432+4C>G (n.1432+4C>G)
c.*1433+4C>G (n.*1433+4C>G)
c.925+4C>G (n.925+4C>G)
c.1771+4C>G (n.1771+4C>G)
c.745+4C>G (n.745+4C>G)
2g.112008479C>TCA2577070608MERTKc.1960+4C>T (n.1960+4C>T)
c.1432+4C>T (n.1432+4C>T)
c.*1433+4C>T (n.*1433+4C>T)
c.925+4C>T (n.925+4C>T)
c.1771+4C>T (n.1771+4C>T)
c.745+4C>T (n.745+4C>T)
2g.112008480T>GCA913088864MERTKc.1960+5T>G (n.1960+5T>G)
c.1432+5T>G (n.1432+5T>G)
c.*1433+5T>G (n.*1433+5T>G)
c.925+5T>G (n.925+5T>G)
c.1771+5T>G (n.1771+5T>G)
c.745+5T>G (n.745+5T>G)
2g.112008481T>ACA2739770958MERTKc.1960+6T>A (n.1960+6T>A)
c.1432+6T>A (n.1432+6T>A)
c.*1433+6T>A (n.*1433+6T>A)
c.925+6T>A (n.925+6T>A)
c.1771+6T>A (n.1771+6T>A)
c.745+6T>A (n.745+6T>A)
2g.112008481T>CCA2739770959MERTKc.1960+6T>C (n.1960+6T>C)
c.1432+6T>C (n.1432+6T>C)
c.*1433+6T>C (n.*1433+6T>C)
c.925+6T>C (n.925+6T>C)
c.1771+6T>C (n.1771+6T>C)
c.745+6T>C (n.745+6T>C)
2g.112008481T>GCA2739770960MERTKc.1960+6T>G (n.1960+6T>G)
c.1432+6T>G (n.1432+6T>G)
c.*1433+6T>G (n.*1433+6T>G)
c.925+6T>G (n.925+6T>G)
c.1771+6T>G (n.1771+6T>G)
c.745+6T>G (n.745+6T>G)
2g.112008482C>ACA53582435MERTKc.1960+7C>A (n.1960+7C>A)
c.1432+7C>A (n.1432+7C>A)
c.*1433+7C>A (n.*1433+7C>A)
c.925+7C>A (n.925+7C>A)
c.1771+7C>A (n.1771+7C>A)
c.745+7C>A (n.745+7C>A)
 dbSNP
2g.112008482C=CA1279571268MERTKc.1960+7C= (n.1960+7C=)
c.1432+7C= (n.1432+7C=)
c.*1433+7C= (n.*1433+7C=)
c.925+7C= (n.925+7C=)
c.1771+7C= (n.1771+7C=)
c.745+7C= (n.745+7C=)
2g.112008482C>GCA535187005MERTKc.1960+7C>G (n.1960+7C>G)
c.1432+7C>G (n.1432+7C>G)
c.*1433+7C>G (n.*1433+7C>G)
c.925+7C>G (n.925+7C>G)
c.1771+7C>G (n.1771+7C>G)
c.745+7C>G (n.745+7C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.112008482C>TCA2739770961MERTKc.1960+7C>T (n.1960+7C>T)
c.1432+7C>T (n.1432+7C>T)
c.*1433+7C>T (n.*1433+7C>T)
c.925+7C>T (n.925+7C>T)
c.1771+7C>T (n.1771+7C>T)
c.745+7C>T (n.745+7C>T)
2g.112008483C>ACA2660690114MERTKc.1960+8C>A (n.1960+8C>A)
c.1432+8C>A (n.1432+8C>A)
c.*1433+8C>A (n.*1433+8C>A)
c.925+8C>A (n.925+8C>A)
c.1771+8C>A (n.1771+8C>A)
c.745+8C>A (n.745+8C>A)
 gnomAD v4
2g.112008483C=CA1279571269MERTKc.1960+8C= (n.1960+8C=)
c.1432+8C= (n.1432+8C=)
c.*1433+8C= (n.*1433+8C=)
c.925+8C= (n.925+8C=)
c.1771+8C= (n.1771+8C=)
c.745+8C= (n.745+8C=)
2g.112008483C>GCA1831596MERTKc.1960+8C>G (n.1960+8C>G)
c.1432+8C>G (n.1432+8C>G)
c.*1433+8C>G (n.*1433+8C>G)
c.925+8C>G (n.925+8C>G)
c.1771+8C>G (n.1771+8C>G)
c.745+8C>G (n.745+8C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008483C>TCA1831595MERTKc.1960+8C>T (n.1960+8C>T)
c.1432+8C>T (n.1432+8C>T)
c.*1433+8C>T (n.*1433+8C>T)
c.925+8C>T (n.925+8C>T)
c.1771+8C>T (n.1771+8C>T)
c.745+8C>T (n.745+8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008484G>ACA1831597MERTKc.1960+9G>A (n.1960+9G>A)
c.1432+9G>A (n.1432+9G>A)
c.*1433+9G>A (n.*1433+9G>A)
c.925+9G>A (n.925+9G>A)
c.1771+9G>A (n.1771+9G>A)
c.745+9G>A (n.745+9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112008484G>CCA2739770962MERTKc.1960+9G>C (n.1960+9G>C)
c.1432+9G>C (n.1432+9G>C)
c.*1433+9G>C (n.*1433+9G>C)
c.925+9G>C (n.925+9G>C)
c.1771+9G>C (n.1771+9G>C)
c.745+9G>C (n.745+9G>C)
2g.112008484G=CA1279571270MERTKc.1960+9G= (n.1960+9G=)
c.1432+9G= (n.1432+9G=)
c.*1433+9G= (n.*1433+9G=)
c.925+9G= (n.925+9G=)
c.1771+9G= (n.1771+9G=)
c.745+9G= (n.745+9G=)
2g.112008485A>CCA2739770963MERTKc.1960+10A>C (n.1960+10A>C)
c.1432+10A>C (n.1432+10A>C)
c.*1433+10A>C (n.*1433+10A>C)
c.925+10A>C (n.925+10A>C)
c.1771+10A>C (n.1771+10A>C)
c.745+10A>C (n.745+10A>C)
2g.112008485A>GCA2739770964MERTKc.1960+10A>G (n.1960+10A>G)
c.1432+10A>G (n.1432+10A>G)
c.*1433+10A>G (n.*1433+10A>G)
c.925+10A>G (n.925+10A>G)
c.1771+10A>G (n.1771+10A>G)
c.745+10A>G (n.745+10A>G)
2g.112008485A>TCA2739770965MERTKc.1960+10A>T (n.1960+10A>T)
c.1432+10A>T (n.1432+10A>T)
c.*1433+10A>T (n.*1433+10A>T)
c.925+10A>T (n.925+10A>T)
c.1771+10A>T (n.1771+10A>T)
c.745+10A>T (n.745+10A>T)
2g.112008486delCA2660690115MERTKc.1960+11del (n.1960+11del)
c.1432+11del (n.1432+11del)
c.*1433+11del (n.*1433+11del)
c.925+11del (n.925+11del)
c.1771+11del (n.1771+11del)
c.745+11del (n.745+11del)
 gnomAD v4
2g.112008486G>ACA2577070609MERTKc.1960+11G>A (n.1960+11G>A)
c.1432+11G>A (n.1432+11G>A)
c.*1433+11G>A (n.*1433+11G>A)
c.925+11G>A (n.925+11G>A)
c.1771+11G>A (n.1771+11G>A)
c.745+11G>A (n.745+11G>A)
2g.112008486G>CCA2739770966MERTKc.1960+11G>C (n.1960+11G>C)
c.1432+11G>C (n.1432+11G>C)
c.*1433+11G>C (n.*1433+11G>C)
c.925+11G>C (n.925+11G>C)
c.1771+11G>C (n.1771+11G>C)
c.745+11G>C (n.745+11G>C)
2g.112008486G>TCA2739770967MERTKc.1960+11G>T (n.1960+11G>T)
c.1432+11G>T (n.1432+11G>T)
c.*1433+11G>T (n.*1433+11G>T)
c.925+11G>T (n.925+11G>T)
c.1771+11G>T (n.1771+11G>T)
c.745+11G>T (n.745+11G>T)
2g.112008487A>CCA2739770968MERTKc.1960+12A>C (n.1960+12A>C)
c.1432+12A>C (n.1432+12A>C)
c.*1433+12A>C (n.*1433+12A>C)
c.925+12A>C (n.925+12A>C)
c.1771+12A>C (n.1771+12A>C)
c.745+12A>C (n.745+12A>C)
2g.112008487A>GCA2739770969MERTKc.1960+12A>G (n.1960+12A>G)
c.1432+12A>G (n.1432+12A>G)
c.*1433+12A>G (n.*1433+12A>G)
c.925+12A>G (n.925+12A>G)
c.1771+12A>G (n.1771+12A>G)
c.745+12A>G (n.745+12A>G)
2g.112008488A>CCA2660690116MERTKc.1960+13A>C (n.1960+13A>C)
c.1432+13A>C (n.1432+13A>C)
c.*1433+13A>C (n.*1433+13A>C)
c.925+13A>C (n.925+13A>C)
c.1771+13A>C (n.1771+13A>C)
c.745+13A>C (n.745+13A>C)
 gnomAD v4
2g.112008488A>GCA2739770970MERTKc.1960+13A>G (n.1960+13A>G)
c.1432+13A>G (n.1432+13A>G)
c.*1433+13A>G (n.*1433+13A>G)
c.925+13A>G (n.925+13A>G)
c.1771+13A>G (n.1771+13A>G)
c.745+13A>G (n.745+13A>G)
2g.112008488A>TCA2739770971MERTKc.1960+13A>T (n.1960+13A>T)
c.1432+13A>T (n.1432+13A>T)
c.*1433+13A>T (n.*1433+13A>T)
c.925+13A>T (n.925+13A>T)
c.1771+13A>T (n.1771+13A>T)
c.745+13A>T (n.745+13A>T)
2g.112008489A>CCA2739770972MERTKc.1960+14A>C (n.1960+14A>C)
c.1432+14A>C (n.1432+14A>C)
c.*1433+14A>C (n.*1433+14A>C)
c.925+14A>C (n.925+14A>C)
c.1771+14A>C (n.1771+14A>C)
c.745+14A>C (n.745+14A>C)
2g.112008489A>TCA2739770973MERTKc.1960+14A>T (n.1960+14A>T)
c.1432+14A>T (n.1432+14A>T)
c.*1433+14A>T (n.*1433+14A>T)
c.925+14A>T (n.925+14A>T)
c.1771+14A>T (n.1771+14A>T)
c.745+14A>T (n.745+14A>T)

Number of alleles fetched