Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.72805399A=CA1855113539TMC1c.1584A= (p.Thr528=)
c.1146A= (p.Thr382=)
c.1458A= (p.Thr486=)
n.1727A=
n.208A=
c.2172A= (p.Thr724=)
c.1587A= (p.Thr529=)
9g.72805399A>CCA5081993TMC1c.1584A>C (p.Thr528=)
c.1146A>C (p.Thr382=)
c.1458A>C (p.Thr486=)
n.1727A>C
n.208A>C
c.2172A>C (p.Thr724=)
c.1587A>C (p.Thr529=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.72805399A>GCA10633931TMC1c.1584A>G (p.Thr528=)
c.1146A>G (p.Thr382=)
c.1458A>G (p.Thr486=)
n.1727A>G
n.208A>G
c.2172A>G (p.Thr724=)
c.1587A>G (p.Thr529=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.72805399A>TCA465185454TMC1c.1584A>T (p.Thr528=)
c.1146A>T (p.Thr382=)
c.1458A>T (p.Thr486=)
n.1727A>T
n.208A>T
c.2172A>T (p.Thr724=)
c.1587A>T (p.Thr529=)
9g.72805400G>ACA373667540TMC1c.1585G>A (p.Val529Ile)
c.1147G>A (p.Val383Ile)
c.1459G>A (p.Val487Ile)
n.1728G>A
n.209G>A
c.2173G>A (p.Val725Ile)
c.1588G>A (p.Val530Ile)
9g.72805400G>CCA373667542TMC1c.1585G>C (p.Val529Leu)
c.1147G>C (p.Val383Leu)
c.1459G>C (p.Val487Leu)
n.1728G>C
n.209G>C
c.2173G>C (p.Val725Leu)
c.1588G>C (p.Val530Leu)
9g.72805400G>TCA373667541TMC1c.1585G>T (p.Val529Phe)
c.1147G>T (p.Val383Phe)
c.1459G>T (p.Val487Phe)
n.1728G>T
n.209G>T
c.2173G>T (p.Val725Phe)
c.1588G>T (p.Val530Phe)
9g.72805401T>ACA5081994TMC1c.1586T>A (p.Val529Asp)
c.1148T>A (p.Val383Asp)
c.1460T>A (p.Val487Asp)
n.1729T>A
n.210T>A
c.2174T>A (p.Val725Asp)
c.1589T>A (p.Val530Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.72805401T>CCA373667543TMC1c.1586T>C (p.Val529Ala)
c.1148T>C (p.Val383Ala)
c.1460T>C (p.Val487Ala)
n.1729T>C
n.210T>C
c.2174T>C (p.Val725Ala)
c.1589T>C (p.Val530Ala)
9g.72805401T>GCA373667544TMC1c.1586T>G (p.Val529Gly)
c.1148T>G (p.Val383Gly)
c.1460T>G (p.Val487Gly)
n.1729T>G
n.210T>G
c.2174T>G (p.Val725Gly)
c.1589T>G (p.Val530Gly)
9g.72805401T=CA1855113540TMC1c.1586T= (p.Val529=)
c.1148T= (p.Val383=)
c.1460T= (p.Val487=)
n.1729T=
n.210T=
c.2174T= (p.Val725=)
c.1589T= (p.Val530=)
9g.72805404_72805405delCA2579354270TMC1c.1589_1590del (p.Ser530Ter)
c.1151_1152del (p.Ser384Ter)
c.1463_1464del (p.Ser488Ter)
n.1732_1733del
n.213_214del
c.2177_2178del (p.Ser726Ter)
c.1592_1593del (p.Ser531Ter)
9g.72805402C>ACA465185464TMC1c.1587C>A (p.Val529=)
c.1149C>A (p.Val383=)
c.1461C>A (p.Val487=)
n.1730C>A
n.211C>A
c.2175C>A (p.Val725=)
c.1590C>A (p.Val530=)
9g.72805402C=CA1855113541TMC1c.1587C= (p.Val529=)
c.1149C= (p.Val383=)
c.1461C= (p.Val487=)
n.1730C=
n.211C=
c.2175C= (p.Val725=)
c.1590C= (p.Val530=)
9g.72805402C>GCA465185466TMC1c.1587C>G (p.Val529=)
c.1149C>G (p.Val383=)
c.1461C>G (p.Val487=)
n.1730C>G
n.211C>G
c.2175C>G (p.Val725=)
c.1590C>G (p.Val530=)
9g.72805402C>TCA465185468TMC1c.1587C>T (p.Val529=)
c.1149C>T (p.Val383=)
c.1461C>T (p.Val487=)
n.1730C>T
n.211C>T
c.2175C>T (p.Val725=)
c.1590C>T (p.Val530=)
 dbSNP gnomAD v2 gnomAD v4
9g.72805403T>ACA373667545TMC1c.1588T>A (p.Ser530Thr)
c.1150T>A (p.Ser384Thr)
c.1462T>A (p.Ser488Thr)
n.1731T>A
n.212T>A
c.2176T>A (p.Ser726Thr)
c.1591T>A (p.Ser531Thr)
9g.72805403T>CCA5081995TMC1c.1588T>C (p.Ser530Pro)
c.1150T>C (p.Ser384Pro)
c.1462T>C (p.Ser488Pro)
n.1731T>C
n.212T>C
c.2176T>C (p.Ser726Pro)
c.1591T>C (p.Ser531Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.72805403T>GCA373667546TMC1c.1588T>G (p.Ser530Ala)
c.1150T>G (p.Ser384Ala)
c.1462T>G (p.Ser488Ala)
n.1731T>G
n.212T>G
c.2176T>G (p.Ser726Ala)
c.1591T>G (p.Ser531Ala)
9g.72805403T=CA1855113542TMC1c.1588T= (p.Ser530=)
c.1150T= (p.Ser384=)
c.1462T= (p.Ser488=)
n.1731T=
n.212T=
c.2176T= (p.Ser726=)
c.1591T= (p.Ser531=)
9g.72805404C>ACA373667547TMC1c.1589C>A (p.Ser530Tyr)
c.1151C>A (p.Ser384Tyr)
c.1463C>A (p.Ser488Tyr)
n.1732C>A
n.213C>A
c.2177C>A (p.Ser726Tyr)
c.1592C>A (p.Ser531Tyr)
9g.72805404C>GCA373667548TMC1c.1589C>G (p.Ser530Cys)
c.1151C>G (p.Ser384Cys)
c.1463C>G (p.Ser488Cys)
n.1732C>G
n.213C>G
c.2177C>G (p.Ser726Cys)
c.1592C>G (p.Ser531Cys)
 gnomAD v4
9g.72805404C>TCA373667549TMC1c.1589C>T (p.Ser530Phe)
c.1151C>T (p.Ser384Phe)
c.1463C>T (p.Ser488Phe)
n.1732C>T
n.213C>T
c.2177C>T (p.Ser726Phe)
c.1592C>T (p.Ser531Phe)
9g.72805405T>ACA465185482TMC1c.1590T>A (p.Ser530=)
c.1152T>A (p.Ser384=)
c.1464T>A (p.Ser488=)
n.1733T>A
n.214T>A
c.2178T>A (p.Ser726=)
c.1593T>A (p.Ser531=)
 dbSNP gnomAD v3 gnomAD v4
9g.72805405T>CCA465185478TMC1c.1590T>C (p.Ser530=)
c.1152T>C (p.Ser384=)
c.1464T>C (p.Ser488=)
n.1733T>C
n.214T>C
c.2178T>C (p.Ser726=)
c.1593T>C (p.Ser531=)
9g.72805405T>GCA465185480TMC1c.1590T>G (p.Ser530=)
c.1152T>G (p.Ser384=)
c.1464T>G (p.Ser488=)
n.1733T>G
n.214T>G
c.2178T>G (p.Ser726=)
c.1593T>G (p.Ser531=)
9g.72805405T=CA1855113543TMC1c.1590T= (p.Ser530=)
c.1152T= (p.Ser384=)
c.1464T= (p.Ser488=)
n.1733T=
n.214T=
c.2178T= (p.Ser726=)
c.1593T= (p.Ser531=)
9g.72805406G>ACA373667552TMC1c.1591G>A (p.Asp531Asn)
c.1153G>A (p.Asp385Asn)
c.1465G>A (p.Asp489Asn)
n.1734G>A
n.215G>A
c.2179G>A (p.Asp727Asn)
c.1594G>A (p.Asp532Asn)
9g.72805406G>CCA373667551TMC1c.1591G>C (p.Asp531His)
c.1153G>C (p.Asp385His)
c.1465G>C (p.Asp489His)
n.1734G>C
n.215G>C
c.2179G>C (p.Asp727His)
c.1594G>C (p.Asp532His)
 gnomAD v4
9g.72805406G>TCA373667550TMC1c.1591G>T (p.Asp531Tyr)
c.1153G>T (p.Asp385Tyr)
c.1465G>T (p.Asp489Tyr)
n.1734G>T
n.215G>T
c.2179G>T (p.Asp727Tyr)
c.1594G>T (p.Asp532Tyr)
9g.72805407A>CCA373667553TMC1c.1592A>C (p.Asp531Ala)
c.1154A>C (p.Asp385Ala)
c.1466A>C (p.Asp489Ala)
n.1735A>C
n.216A>C
c.2180A>C (p.Asp727Ala)
c.1595A>C (p.Asp532Ala)
9g.72805407A>GCA373667554TMC1c.1592A>G (p.Asp531Gly)
c.1154A>G (p.Asp385Gly)
c.1466A>G (p.Asp489Gly)
n.1735A>G
n.216A>G
c.2180A>G (p.Asp727Gly)
c.1595A>G (p.Asp532Gly)
9g.72805407A>TCA373667555TMC1c.1592A>T (p.Asp531Val)
c.1154A>T (p.Asp385Val)
c.1466A>T (p.Asp489Val)
n.1735A>T
n.216A>T
c.2180A>T (p.Asp727Val)
c.1595A>T (p.Asp532Val)
9g.72805408T>ACA373667556TMC1c.1593T>A (p.Asp531Glu)
c.1155T>A (p.Asp385Glu)
c.1467T>A (p.Asp489Glu)
n.1736T>A
n.217T>A
c.2181T>A (p.Asp727Glu)
c.1596T>A (p.Asp532Glu)
 gnomAD v4
9g.72805408T>CCA465185492TMC1c.1593T>C (p.Asp531=)
c.1155T>C (p.Asp385=)
c.1467T>C (p.Asp489=)
n.1736T>C
n.217T>C
c.2181T>C (p.Asp727=)
c.1596T>C (p.Asp532=)
 gnomAD v4
9g.72805408T>GCA373667557TMC1c.1593T>G (p.Asp531Glu)
c.1155T>G (p.Asp385Glu)
c.1467T>G (p.Asp489Glu)
n.1736T>G
n.217T>G
c.2181T>G (p.Asp727Glu)
c.1596T>G (p.Asp532Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.72805408T=CA1855113544TMC1c.1593T= (p.Asp531=)
c.1155T= (p.Asp385=)
c.1467T= (p.Asp489=)
n.1736T=
n.217T=
c.2181T= (p.Asp727=)
c.1596T= (p.Asp532=)
9g.72805409G>ACA5081996TMC1c.1594G>A (p.Val532Ile)
c.1156G>A (p.Val386Ile)
c.1468G>A (p.Val490Ile)
n.1737G>A
n.218G>A
c.2182G>A (p.Val728Ile)
c.1597G>A (p.Val533Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.72805409G>CCA373667558TMC1c.1594G>C (p.Val532Leu)
c.1156G>C (p.Val386Leu)
c.1468G>C (p.Val490Leu)
n.1737G>C
n.218G>C
c.2182G>C (p.Val728Leu)
c.1597G>C (p.Val533Leu)
9g.72805409G=CA1855113545TMC1c.1594G= (p.Val532=)
c.1156G= (p.Val386=)
c.1468G= (p.Val490=)
n.1737G=
n.218G=
c.2182G= (p.Val728=)
c.1597G= (p.Val533=)
9g.72805409G>TCA373667559TMC1c.1594G>T (p.Val532Phe)
c.1156G>T (p.Val386Phe)
c.1468G>T (p.Val490Phe)
n.1737G>T
n.218G>T
c.2182G>T (p.Val728Phe)
c.1597G>T (p.Val533Phe)
9g.72805410T>ACA373667560TMC1c.1595T>A (p.Val532Asp)
c.1157T>A (p.Val386Asp)
c.1469T>A (p.Val490Asp)
n.1738T>A
n.219T>A
c.2183T>A (p.Val728Asp)
c.1598T>A (p.Val533Asp)
9g.72805410T>CCA373667561TMC1c.1595T>C (p.Val532Ala)
c.1157T>C (p.Val386Ala)
c.1469T>C (p.Val490Ala)
n.1738T>C
n.219T>C
c.2183T>C (p.Val728Ala)
c.1598T>C (p.Val533Ala)
9g.72805410T>GCA373667562TMC1c.1595T>G (p.Val532Gly)
c.1157T>G (p.Val386Gly)
c.1469T>G (p.Val490Gly)
n.1738T>G
n.219T>G
c.2183T>G (p.Val728Gly)
c.1598T>G (p.Val533Gly)
9g.72805411T>ACA465185504TMC1c.1596T>A (p.Val532=)
c.1158T>A (p.Val386=)
c.1470T>A (p.Val490=)
n.1739T>A
n.220T>A
c.2184T>A (p.Val728=)
c.1599T>A (p.Val533=)
9g.72805411T>CCA465185506TMC1c.1596T>C (p.Val532=)
c.1158T>C (p.Val386=)
c.1470T>C (p.Val490=)
n.1739T>C
n.220T>C
c.2184T>C (p.Val728=)
c.1599T>C (p.Val533=)
9g.72805411T>GCA465185508TMC1c.1596T>G (p.Val532=)
c.1158T>G (p.Val386=)
c.1470T>G (p.Val490=)
n.1739T>G
n.220T>G
c.2184T>G (p.Val728=)
c.1599T>G (p.Val533=)
9g.72805412C>ACA373667563TMC1c.1597C>A (p.Leu533Met)
c.1159C>A (p.Leu387Met)
c.1471C>A (p.Leu491Met)
n.1740C>A
n.221C>A
c.2185C>A (p.Leu729Met)
c.1600C>A (p.Leu534Met)
9g.72805412C>GCA373667564TMC1c.1597C>G (p.Leu533Val)
c.1159C>G (p.Leu387Val)
c.1471C>G (p.Leu491Val)
n.1740C>G
n.221C>G
c.2185C>G (p.Leu729Val)
c.1600C>G (p.Leu534Val)
9g.72805412C>TCA465185513TMC1c.1597C>T (p.Leu533=)
c.1159C>T (p.Leu387=)
c.1471C>T (p.Leu491=)
n.1740C>T
n.221C>T
c.2185C>T (p.Leu729=)
c.1600C>T (p.Leu534=)
9g.72805413T>ACA373667565TMC1c.1598T>A (p.Leu533Gln)
c.1160T>A (p.Leu387Gln)
c.1472T>A (p.Leu491Gln)
n.1741T>A
n.222T>A
c.2186T>A (p.Leu729Gln)
c.1601T>A (p.Leu534Gln)
9g.72805413T>CCA373667567TMC1c.1598T>C (p.Leu533Pro)
c.1160T>C (p.Leu387Pro)
c.1472T>C (p.Leu491Pro)
n.1741T>C
n.222T>C
c.2186T>C (p.Leu729Pro)
c.1601T>C (p.Leu534Pro)
9g.72805413T>GCA373667566TMC1c.1598T>G (p.Leu533Arg)
c.1160T>G (p.Leu387Arg)
c.1472T>G (p.Leu491Arg)
n.1741T>G
n.222T>G
c.2186T>G (p.Leu729Arg)
c.1601T>G (p.Leu534Arg)
9g.72805414G>ACA193290398TMC1c.1599G>A (p.Leu533=)
c.1161G>A (p.Leu387=)
c.1473G>A (p.Leu491=)
n.1742G>A
n.223G>A
c.2187G>A (p.Leu729=)
c.1602G>A (p.Leu534=)
 ClinVar dbSNP gnomAD v4
9g.72805414G>CCA465185521TMC1c.1599G>C (p.Leu533=)
c.1161G>C (p.Leu387=)
c.1473G>C (p.Leu491=)
n.1742G>C
n.223G>C
c.2187G>C (p.Leu729=)
c.1602G>C (p.Leu534=)
9g.72805414G=CA1855113546TMC1c.1599G= (p.Leu533=)
c.1161G= (p.Leu387=)
c.1473G= (p.Leu491=)
n.1742G=
n.223G=
c.2187G= (p.Leu729=)
c.1602G= (p.Leu534=)
9g.72805414G>TCA465185520TMC1c.1599G>T (p.Leu533=)
c.1161G>T (p.Leu387=)
c.1473G>T (p.Leu491=)
n.1742G>T
n.223G>T
c.2187G>T (p.Leu729=)
c.1602G>T (p.Leu534=)
 gnomAD v4
9g.72805415A>CCA373667568TMC1c.1600A>C (p.Thr534Pro)
c.1162A>C (p.Thr388Pro)
c.1474A>C (p.Thr492Pro)
n.1743A>C
n.224A>C
c.2188A>C (p.Thr730Pro)
c.1603A>C (p.Thr535Pro)
9g.72805415A>GCA373667569TMC1c.1600A>G (p.Thr534Ala)
c.1162A>G (p.Thr388Ala)
c.1474A>G (p.Thr492Ala)
n.1743A>G
n.224A>G
c.2188A>G (p.Thr730Ala)
c.1603A>G (p.Thr535Ala)
 gnomAD v4
9g.72805415A>TCA373667570TMC1c.1600A>T (p.Thr534Ser)
c.1162A>T (p.Thr388Ser)
c.1474A>T (p.Thr492Ser)
n.1743A>T
n.224A>T
c.2188A>T (p.Thr730Ser)
c.1603A>T (p.Thr535Ser)
9g.72805416C>ACA373667571TMC1c.1601C>A (p.Thr534Asn)
c.1163C>A (p.Thr388Asn)
c.1475C>A (p.Thr492Asn)
n.1744C>A
n.225C>A
c.2189C>A (p.Thr730Asn)
c.1604C>A (p.Thr535Asn)
 dbSNP
9g.72805416C=CA1855113547TMC1c.1601C= (p.Thr534=)
c.1163C= (p.Thr388=)
c.1475C= (p.Thr492=)
n.1744C=
n.225C=
c.2189C= (p.Thr730=)
c.1604C= (p.Thr535=)
9g.72805416C>GCA373667572TMC1c.1601C>G (p.Thr534Ser)
c.1163C>G (p.Thr388Ser)
c.1475C>G (p.Thr492Ser)
n.1744C>G
n.225C>G
c.2189C>G (p.Thr730Ser)
c.1604C>G (p.Thr535Ser)
9g.72805416C>TCA373667573TMC1c.1601C>T (p.Thr534Ile)
c.1163C>T (p.Thr388Ile)
c.1475C>T (p.Thr492Ile)
n.1744C>T
n.225C>T
c.2189C>T (p.Thr730Ile)
c.1604C>T (p.Thr535Ile)
 gnomAD v4
9g.72805417C>ACA465185534TMC1c.1602C>A (p.Thr534=)
c.1164C>A (p.Thr388=)
c.1476C>A (p.Thr492=)
n.1745C>A
n.226C>A
c.2190C>A (p.Thr730=)
c.1605C>A (p.Thr535=)
 gnomAD v4
9g.72805417C=CA1855113548TMC1c.1602C= (p.Thr534=)
c.1164C= (p.Thr388=)
c.1476C= (p.Thr492=)
n.1745C=
n.226C=
c.2190C= (p.Thr730=)
c.1605C= (p.Thr535=)
9g.72805417C>GCA142059TMC1c.1602C>G (p.Thr534=)
c.1164C>G (p.Thr388=)
c.1476C>G (p.Thr492=)
n.1745C>G
n.226C>G
c.2190C>G (p.Thr730=)
c.1605C>G (p.Thr535=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.72805417C>TCA465185532TMC1c.1602C>T (p.Thr534=)
c.1164C>T (p.Thr388=)
c.1476C>T (p.Thr492=)
n.1745C>T
n.226C>T
c.2190C>T (p.Thr730=)
c.1605C>T (p.Thr535=)
 ClinVar
9g.72805418A=CA1855113549TMC1c.1603A= (p.Thr535=)
c.1165A= (p.Thr389=)
c.1477A= (p.Thr493=)
n.1746A=
n.227A=
c.2191A= (p.Thr731=)
c.1606A= (p.Thr536=)
9g.72805418A>CCA373667574TMC1c.1603A>C (p.Thr535Pro)
c.1165A>C (p.Thr389Pro)
c.1477A>C (p.Thr493Pro)
n.1746A>C
n.227A>C
c.2191A>C (p.Thr731Pro)
c.1606A>C (p.Thr536Pro)
 dbSNP
9g.72805418A>GCA373667575TMC1c.1603A>G (p.Thr535Ala)
c.1165A>G (p.Thr389Ala)
c.1477A>G (p.Thr493Ala)
n.1746A>G
n.227A>G
c.2191A>G (p.Thr731Ala)
c.1606A>G (p.Thr536Ala)
9g.72805418A>TCA373667576TMC1c.1603A>T (p.Thr535Ser)
c.1165A>T (p.Thr389Ser)
c.1477A>T (p.Thr493Ser)
n.1746A>T
n.227A>T
c.2191A>T (p.Thr731Ser)
c.1606A>T (p.Thr536Ser)
9g.72805419C>ACA373667578TMC1c.1604C>A (p.Thr535Asn)
c.1166C>A (p.Thr389Asn)
c.1478C>A (p.Thr493Asn)
n.1747C>A
n.228C>A
c.2192C>A (p.Thr731Asn)
c.1607C>A (p.Thr536Asn)
9g.72805419C>GCA373667579TMC1c.1604C>G (p.Thr535Ser)
c.1166C>G (p.Thr389Ser)
c.1478C>G (p.Thr493Ser)
n.1747C>G
n.228C>G
c.2192C>G (p.Thr731Ser)
c.1607C>G (p.Thr536Ser)
9g.72805419C>TCA373667577TMC1c.1604C>T (p.Thr535Ile)
c.1166C>T (p.Thr389Ile)
c.1478C>T (p.Thr493Ile)
n.1747C>T
n.228C>T
c.2192C>T (p.Thr731Ile)
c.1607C>T (p.Thr536Ile)
 gnomAD v4
9g.72805420C>ACA465185543TMC1c.1605C>A (p.Thr535=)
c.1167C>A (p.Thr389=)
c.1479C>A (p.Thr493=)
n.1748C>A
n.229C>A
c.2193C>A (p.Thr731=)
c.1608C>A (p.Thr536=)
9g.72805420C=CA1855113550TMC1c.1605C= (p.Thr535=)
c.1167C= (p.Thr389=)
c.1479C= (p.Thr493=)
n.1748C=
n.229C=
c.2193C= (p.Thr731=)
c.1608C= (p.Thr536=)
9g.72805420C>GCA465185545TMC1c.1605C>G (p.Thr535=)
c.1167C>G (p.Thr389=)
c.1479C>G (p.Thr493=)
n.1748C>G
n.229C>G
c.2193C>G (p.Thr731=)
c.1608C>G (p.Thr536=)
9g.72805420C>TCA465185547TMC1c.1605C>T (p.Thr535=)
c.1167C>T (p.Thr389=)
c.1479C>T (p.Thr493=)
n.1748C>T
n.229C>T
c.2193C>T (p.Thr731=)
c.1608C>T (p.Thr536=)
 dbSNP
9g.72805421T>ACA373667582TMC1c.1606T>A (p.Tyr536Asn)
c.1168T>A (p.Tyr390Asn)
c.1480T>A (p.Tyr494Asn)
n.1749T>A
n.230T>A
c.2194T>A (p.Tyr732Asn)
c.1609T>A (p.Tyr537Asn)
9g.72805421T>CCA373667580TMC1c.1606T>C (p.Tyr536His)
c.1168T>C (p.Tyr390His)
c.1480T>C (p.Tyr494His)
n.1749T>C
n.230T>C
c.2194T>C (p.Tyr732His)
c.1609T>C (p.Tyr537His)
 gnomAD v4
9g.72805421T>GCA373667581TMC1c.1606T>G (p.Tyr536Asp)
c.1168T>G (p.Tyr390Asp)
c.1480T>G (p.Tyr494Asp)
n.1749T>G
n.230T>G
c.2194T>G (p.Tyr732Asp)
c.1609T>G (p.Tyr537Asp)
 dbSNP
9g.72805421T=CA1855113551TMC1c.1606T= (p.Tyr536=)
c.1168T= (p.Tyr390=)
c.1480T= (p.Tyr494=)
n.1749T=
n.230T=
c.2194T= (p.Tyr732=)
c.1609T= (p.Tyr537=)
9g.72805422A>CCA373667583TMC1c.1607A>C (p.Tyr536Ser)
c.1169A>C (p.Tyr390Ser)
c.1481A>C (p.Tyr494Ser)
n.1750A>C
n.231A>C
c.2195A>C (p.Tyr732Ser)
c.1610A>C (p.Tyr537Ser)
9g.72805422A>GCA373667584TMC1c.1607A>G (p.Tyr536Cys)
c.1169A>G (p.Tyr390Cys)
c.1481A>G (p.Tyr494Cys)
n.1750A>G
n.231A>G
c.2195A>G (p.Tyr732Cys)
c.1610A>G (p.Tyr537Cys)
 ClinVar gnomAD v4
9g.72805422A>TCA373667585TMC1c.1607A>T (p.Tyr536Phe)
c.1169A>T (p.Tyr390Phe)
c.1481A>T (p.Tyr494Phe)
n.1750A>T
n.231A>T
c.2195A>T (p.Tyr732Phe)
c.1610A>T (p.Tyr537Phe)
9g.72805423C>ACA373667586TMC1c.1608C>A (p.Tyr536Ter)
c.1170C>A (p.Tyr390Ter)
c.1482C>A (p.Tyr494Ter)
n.1751C>A
n.232C>A
c.2196C>A (p.Tyr732Ter)
c.1611C>A (p.Tyr537Ter)
9g.72805423C=CA1855113552TMC1c.1608C= (p.Tyr536=)
c.1170C= (p.Tyr390=)
c.1482C= (p.Tyr494=)
n.1751C=
n.232C=
c.2196C= (p.Tyr732=)
c.1611C= (p.Tyr537=)
9g.72805423C>GCA373667587TMC1c.1608C>G (p.Tyr536Ter)
c.1170C>G (p.Tyr390Ter)
c.1482C>G (p.Tyr494Ter)
n.1751C>G
n.232C>G
c.2196C>G (p.Tyr732Ter)
c.1611C>G (p.Tyr537Ter)
9g.72805423C>TCA5081997TMC1c.1608C>T (p.Tyr536=)
c.1170C>T (p.Tyr390=)
c.1482C>T (p.Tyr494=)
n.1751C>T
n.232C>T
c.2196C>T (p.Tyr732=)
c.1611C>T (p.Tyr537=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.72805424G>ACA5081998TMC1c.1609G>A (p.Val537Ile)
c.1171G>A (p.Val391Ile)
c.1483G>A (p.Val495Ile)
n.1752G>A
n.233G>A
c.2197G>A (p.Val733Ile)
c.1612G>A (p.Val538Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.72805424G>CCA373667588TMC1c.1609G>C (p.Val537Leu)
c.1171G>C (p.Val391Leu)
c.1483G>C (p.Val495Leu)
n.1752G>C
n.233G>C
c.2197G>C (p.Val733Leu)
c.1612G>C (p.Val538Leu)
9g.72805424G=CA1855113553TMC1c.1609G= (p.Val537=)
c.1171G= (p.Val391=)
c.1483G= (p.Val495=)
n.1752G=
n.233G=
c.2197G= (p.Val733=)
c.1612G= (p.Val538=)
9g.72805424G>TCA373667589TMC1c.1609G>T (p.Val537Phe)
c.1171G>T (p.Val391Phe)
c.1483G>T (p.Val495Phe)
n.1752G>T
n.233G>T
c.2197G>T (p.Val733Phe)
c.1612G>T (p.Val538Phe)
9g.72805425T>ACA373667590TMC1c.1610T>A (p.Val537Asp)
c.1172T>A (p.Val391Asp)
c.1484T>A (p.Val495Asp)
n.1753T>A
n.234T>A
c.2198T>A (p.Val733Asp)
c.1613T>A (p.Val538Asp)
9g.72805425T>CCA373667591TMC1c.1610T>C (p.Val537Ala)
c.1172T>C (p.Val391Ala)
c.1484T>C (p.Val495Ala)
n.1753T>C
n.234T>C
c.2198T>C (p.Val733Ala)
c.1613T>C (p.Val538Ala)
9g.72805425T>GCA373667592TMC1c.1610T>G (p.Val537Gly)
c.1172T>G (p.Val391Gly)
c.1484T>G (p.Val495Gly)
n.1753T>G
n.234T>G
c.2198T>G (p.Val733Gly)
c.1613T>G (p.Val538Gly)
9g.72805426C>ACA465185566TMC1c.1611C>A (p.Val537=)
c.1173C>A (p.Val391=)
c.1485C>A (p.Val495=)
n.1754C>A
n.235C>A
c.2199C>A (p.Val733=)
c.1614C>A (p.Val538=)
9g.72805426C=CA1855113554TMC1c.1611C= (p.Val537=)
c.1173C= (p.Val391=)
c.1485C= (p.Val495=)
n.1754C=
n.235C=
c.2199C= (p.Val733=)
c.1614C= (p.Val538=)
9g.72805426C>GCA465185569TMC1c.1611C>G (p.Val537=)
c.1173C>G (p.Val391=)
c.1485C>G (p.Val495=)
n.1754C>G
n.235C>G
c.2199C>G (p.Val733=)
c.1614C>G (p.Val538=)
9g.72805426C>TCA5081999TMC1c.1611C>T (p.Val537=)
c.1173C>T (p.Val391=)
c.1485C>T (p.Val495=)
n.1754C>T
n.235C>T
c.2199C>T (p.Val733=)
c.1614C>T (p.Val538=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.72805427A>CCA373667593TMC1c.1612A>C (p.Thr538Pro)
c.1174A>C (p.Thr392Pro)
c.1486A>C (p.Thr496Pro)
n.1755A>C
n.236A>C
c.2200A>C (p.Thr734Pro)
c.1615A>C (p.Thr539Pro)
9g.72805427A>GCA373667594TMC1c.1612A>G (p.Thr538Ala)
c.1174A>G (p.Thr392Ala)
c.1486A>G (p.Thr496Ala)
n.1755A>G
n.236A>G
c.2200A>G (p.Thr734Ala)
c.1615A>G (p.Thr539Ala)
9g.72805427A>TCA373667595TMC1c.1612A>T (p.Thr538Ser)
c.1174A>T (p.Thr392Ser)
c.1486A>T (p.Thr496Ser)
n.1755A>T
n.236A>T
c.2200A>T (p.Thr734Ser)
c.1615A>T (p.Thr539Ser)
9g.72805428C>ACA373667596TMC1c.1613C>A (p.Thr538Lys)
c.1175C>A (p.Thr392Lys)
c.1487C>A (p.Thr496Lys)
n.1756C>A
n.237C>A
c.2201C>A (p.Thr734Lys)
c.1616C>A (p.Thr539Lys)
9g.72805428C=CA1855113555TMC1c.1613C= (p.Thr538=)
c.1175C= (p.Thr392=)
c.1487C= (p.Thr496=)
n.1756C=
n.237C=
c.2201C= (p.Thr734=)
c.1616C= (p.Thr539=)
9g.72805428C>GCA373667597TMC1c.1613C>G (p.Thr538Arg)
c.1175C>G (p.Thr392Arg)
c.1487C>G (p.Thr496Arg)
n.1756C>G
n.237C>G
c.2201C>G (p.Thr734Arg)
c.1616C>G (p.Thr539Arg)
9g.72805428C>TCA373667598TMC1c.1613C>T (p.Thr538Ile)
c.1175C>T (p.Thr392Ile)
c.1487C>T (p.Thr496Ile)
n.1756C>T
n.237C>T
c.2201C>T (p.Thr734Ile)
c.1616C>T (p.Thr539Ile)
 dbSNP gnomAD v2
9g.72805429A>CCA465185578TMC1c.1614A>C (p.Thr538=)
c.1176A>C (p.Thr392=)
c.1488A>C (p.Thr496=)
n.1757A>C
n.238A>C
c.2202A>C (p.Thr734=)
c.1617A>C (p.Thr539=)
9g.72805429A>GCA465185579TMC1c.1614A>G (p.Thr538=)
c.1176A>G (p.Thr392=)
c.1488A>G (p.Thr496=)
n.1757A>G
n.238A>G
c.2202A>G (p.Thr734=)
c.1617A>G (p.Thr539=)
9g.72805429A>TCA465185580TMC1c.1614A>T (p.Thr538=)
c.1176A>T (p.Thr392=)
c.1488A>T (p.Thr496=)
n.1757A>T
n.238A>T
c.2202A>T (p.Thr734=)
c.1617A>T (p.Thr539=)
9g.72805430A=CA1855113556TMC1c.1615A= (p.Ile539=)
c.1177A= (p.Ile393=)
c.1489A= (p.Ile497=)
n.1758A=
n.239A=
c.2203A= (p.Ile735=)
c.1618A= (p.Ile540=)
9g.72805430A>CCA373667599TMC1c.1615A>C (p.Ile539Leu)
c.1177A>C (p.Ile393Leu)
c.1489A>C (p.Ile497Leu)
n.1758A>C
n.239A>C
c.2203A>C (p.Ile735Leu)
c.1618A>C (p.Ile540Leu)
 gnomAD v4
9g.72805430A>GCA373667600TMC1c.1615A>G (p.Ile539Val)
c.1177A>G (p.Ile393Val)
c.1489A>G (p.Ile497Val)
n.1758A>G
n.239A>G
c.2203A>G (p.Ile735Val)
c.1618A>G (p.Ile540Val)
 dbSNP gnomAD v3 gnomAD v4
9g.72805430A>TCA373667601TMC1c.1615A>T (p.Ile539Phe)
c.1177A>T (p.Ile393Phe)
c.1489A>T (p.Ile497Phe)
n.1758A>T
n.239A>T
c.2203A>T (p.Ile735Phe)
c.1618A>T (p.Ile540Phe)
 dbSNP gnomAD v4
9g.72805431T>ACA373667602TMC1c.1616T>A (p.Ile539Asn)
c.1178T>A (p.Ile393Asn)
c.1490T>A (p.Ile497Asn)
n.1759T>A
n.240T>A
c.2204T>A (p.Ile735Asn)
c.1619T>A (p.Ile540Asn)
9g.72805431T>CCA373667603TMC1c.1616T>C (p.Ile539Thr)
c.1178T>C (p.Ile393Thr)
c.1490T>C (p.Ile497Thr)
n.1759T>C
n.240T>C
c.2204T>C (p.Ile735Thr)
c.1619T>C (p.Ile540Thr)
9g.72805431T>GCA373667604TMC1c.1616T>G (p.Ile539Ser)
c.1178T>G (p.Ile393Ser)
c.1490T>G (p.Ile497Ser)
n.1759T>G
n.240T>G
c.2204T>G (p.Ile735Ser)
c.1619T>G (p.Ile540Ser)
9g.72805432C>ACA465185589TMC1c.1617C>A (p.Ile539=)
c.1179C>A (p.Ile393=)
c.1491C>A (p.Ile497=)
n.1760C>A
n.241C>A
c.2205C>A (p.Ile735=)
c.1620C>A (p.Ile540=)
9g.72805432C>GCA373667605TMC1c.1617C>G (p.Ile539Met)
c.1179C>G (p.Ile393Met)
c.1491C>G (p.Ile497Met)
n.1760C>G
n.241C>G
c.2205C>G (p.Ile735Met)
c.1620C>G (p.Ile540Met)
9g.72805432C>TCA465185592TMC1c.1617C>T (p.Ile539=)
c.1179C>T (p.Ile393=)
c.1491C>T (p.Ile497=)
n.1760C>T
n.241C>T
c.2205C>T (p.Ile735=)
c.1620C>T (p.Ile540=)
9g.72805432_72805447delinsCCTCATTGGGGACTTTCA1855113557TMC1c.1617_1632delinsCCTCATTGGGGACTTT (p.Ile539=)
c.1179_1194delinsCCTCATTGGGGACTTT (p.Ile393=)
c.1491_1506delinsCCTCATTGGGGACTTT (p.Ile497=)
n.1760_1775delinsCCTCATTGGGGACTTT
n.241_256delinsCCTCATTGGGGACTTT
c.2205_2220delinsCCTCATTGGGGACTTT (p.Ile735=)
c.1620_1635delinsCCTCATTGGGGACTTT (p.Ile540=)
9g.72805433C>ACA373667607TMC1c.1618C>A (p.Leu540Ile)
c.1180C>A (p.Leu394Ile)
c.1492C>A (p.Leu498Ile)
n.1761C>A
n.242C>A
c.2206C>A (p.Leu736Ile)
c.1621C>A (p.Leu541Ile)
9g.72805433C>GCA373667606TMC1c.1618C>G (p.Leu540Val)
c.1180C>G (p.Leu394Val)
c.1492C>G (p.Leu498Val)
n.1761C>G
n.242C>G
c.2206C>G (p.Leu736Val)
c.1621C>G (p.Leu541Val)
9g.72805433C>TCA373667608TMC1c.1618C>T (p.Leu540Phe)
c.1180C>T (p.Leu394Phe)
c.1492C>T (p.Leu498Phe)
n.1761C>T
n.242C>T
c.2206C>T (p.Leu736Phe)
c.1621C>T (p.Leu541Phe)
 COSMIC
9g.72805435_72805449delCA5082000TMC1c.1620_1634del (p.Ile541_Leu545del)
c.1182_1196del (p.Ile395_Leu399del)
c.1494_1508del (p.Ile499_Leu503del)
n.1763_1777del
n.244_258del
c.2208_2222del (p.Ile737_Leu741del)
c.1623_1637del (p.Ile542_Leu546del)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.72805434T>ACA373667609TMC1c.1619T>A (p.Leu540His)
c.1181T>A (p.Leu394His)
c.1493T>A (p.Leu498His)
n.1762T>A
n.243T>A
c.2207T>A (p.Leu736His)
c.1622T>A (p.Leu541His)
9g.72805434T>CCA373667610TMC1c.1619T>C (p.Leu540Pro)
c.1181T>C (p.Leu394Pro)
c.1493T>C (p.Leu498Pro)
n.1762T>C
n.243T>C
c.2207T>C (p.Leu736Pro)
c.1622T>C (p.Leu541Pro)
9g.72805434T>GCA373667611TMC1c.1619T>G (p.Leu540Arg)
c.1181T>G (p.Leu394Arg)
c.1493T>G (p.Leu498Arg)
n.1762T>G
n.243T>G
c.2207T>G (p.Leu736Arg)
c.1622T>G (p.Leu541Arg)
9g.72805435C>ACA465185602TMC1c.1620C>A (p.Leu540=)
c.1182C>A (p.Leu394=)
c.1494C>A (p.Leu498=)
n.1763C>A
n.244C>A
c.2208C>A (p.Leu736=)
c.1623C>A (p.Leu541=)
 gnomAD v4
9g.72805435C=CA1855113558TMC1c.1620C= (p.Leu540=)
c.1182C= (p.Leu394=)
c.1494C= (p.Leu498=)
n.1763C=
n.244C=
c.2208C= (p.Leu736=)
c.1623C= (p.Leu541=)
9g.72805435C>GCA465185605TMC1c.1620C>G (p.Leu540=)
c.1182C>G (p.Leu394=)
c.1494C>G (p.Leu498=)
n.1763C>G
n.244C>G
c.2208C>G (p.Leu736=)
c.1623C>G (p.Leu541=)
9g.72805435C>TCA5082001TMC1c.1620C>T (p.Leu540=)
c.1182C>T (p.Leu394=)
c.1494C>T (p.Leu498=)
n.1763C>T
n.244C>T
c.2208C>T (p.Leu736=)
c.1623C>T (p.Leu541=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.72805436A>CCA373667612TMC1c.1621A>C (p.Ile541Leu)
c.1183A>C (p.Ile395Leu)
c.1495A>C (p.Ile499Leu)
n.1764A>C
n.245A>C
c.2209A>C (p.Ile737Leu)
c.1624A>C (p.Ile542Leu)
9g.72805436A>GCA373667613TMC1c.1621A>G (p.Ile541Val)
c.1183A>G (p.Ile395Val)
c.1495A>G (p.Ile499Val)
n.1764A>G
n.245A>G
c.2209A>G (p.Ile737Val)
c.1624A>G (p.Ile542Val)
9g.72805436A>TCA373667614TMC1c.1621A>T (p.Ile541Phe)
c.1183A>T (p.Ile395Phe)
c.1495A>T (p.Ile499Phe)
n.1764A>T
n.245A>T
c.2209A>T (p.Ile737Phe)
c.1624A>T (p.Ile542Phe)
 gnomAD v4
9g.72805437T>ACA373667615TMC1c.1622T>A (p.Ile541Asn)
c.1184T>A (p.Ile395Asn)
c.1496T>A (p.Ile499Asn)
n.1765T>A
n.246T>A
c.2210T>A (p.Ile737Asn)
c.1625T>A (p.Ile542Asn)
 dbSNP gnomAD v4
9g.72805437T>CCA5082002TMC1c.1622T>C (p.Ile541Thr)
c.1184T>C (p.Ile395Thr)
c.1496T>C (p.Ile499Thr)
n.1765T>C
n.246T>C
c.2210T>C (p.Ile737Thr)
c.1625T>C (p.Ile542Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.72805437T>GCA373667616TMC1c.1622T>G (p.Ile541Ser)
c.1184T>G (p.Ile395Ser)
c.1496T>G (p.Ile499Ser)
n.1765T>G
n.246T>G
c.2210T>G (p.Ile737Ser)
c.1625T>G (p.Ile542Ser)
9g.72805437T=CA1855113559TMC1c.1622T= (p.Ile541=)
c.1184T= (p.Ile395=)
c.1496T= (p.Ile499=)
n.1765T=
n.246T=
c.2210T= (p.Ile737=)
c.1625T= (p.Ile542=)
9g.72805438T>ACA465185617TMC1c.1623T>A (p.Ile541=)
c.1185T>A (p.Ile395=)
c.1497T>A (p.Ile499=)
n.1766T>A
n.247T>A
c.2211T>A (p.Ile737=)
c.1626T>A (p.Ile542=)
9g.72805438T>CCA465185614TMC1c.1623T>C (p.Ile541=)
c.1185T>C (p.Ile395=)
c.1497T>C (p.Ile499=)
n.1766T>C
n.247T>C
c.2211T>C (p.Ile737=)
c.1626T>C (p.Ile542=)
9g.72805438T>GCA373667617TMC1c.1623T>G (p.Ile541Met)
c.1185T>G (p.Ile395Met)
c.1497T>G (p.Ile499Met)
n.1766T>G
n.247T>G
c.2211T>G (p.Ile737Met)
c.1626T>G (p.Ile542Met)
9g.72805439G>ACA373667619TMC1c.1624G>A (p.Gly542Arg)
c.1186G>A (p.Gly396Arg)
c.1498G>A (p.Gly500Arg)
n.1767G>A
n.248G>A
c.2212G>A (p.Gly738Arg)
c.1627G>A (p.Gly543Arg)
9g.72805439G>CCA373667620TMC1c.1624G>C (p.Gly542Arg)
c.1186G>C (p.Gly396Arg)
c.1498G>C (p.Gly500Arg)
n.1767G>C
n.248G>C
c.2212G>C (p.Gly738Arg)
c.1627G>C (p.Gly543Arg)
9g.72805439G>TCA373667618TMC1c.1624G>T (p.Gly542Trp)
c.1186G>T (p.Gly396Trp)
c.1498G>T (p.Gly500Trp)
n.1767G>T
n.248G>T
c.2212G>T (p.Gly738Trp)
c.1627G>T (p.Gly543Trp)
9g.72805440G>ACA373667621TMC1c.1625G>A (p.Gly542Glu)
c.1187G>A (p.Gly396Glu)
c.1499G>A (p.Gly500Glu)
n.1768G>A
n.249G>A
c.2213G>A (p.Gly738Glu)
c.1628G>A (p.Gly543Glu)
 dbSNP gnomAD v2 gnomAD v4
9g.72805440G>CCA373667622TMC1c.1625G>C (p.Gly542Ala)
c.1187G>C (p.Gly396Ala)
c.1499G>C (p.Gly500Ala)
n.1768G>C
n.249G>C
c.2213G>C (p.Gly738Ala)
c.1628G>C (p.Gly543Ala)
9g.72805440G=CA1855113560TMC1c.1625G= (p.Gly542=)
c.1187G= (p.Gly396=)
c.1499G= (p.Gly500=)
n.1768G=
n.249G=
c.2213G= (p.Gly738=)
c.1628G= (p.Gly543=)
9g.72805440G>TCA373667623TMC1c.1625G>T (p.Gly542Val)
c.1187G>T (p.Gly396Val)
c.1499G>T (p.Gly500Val)
n.1768G>T
n.249G>T
c.2213G>T (p.Gly738Val)
c.1628G>T (p.Gly543Val)
9g.72805441G>ACA5082003TMC1c.1626G>A (p.Gly542=)
c.1188G>A (p.Gly396=)
c.1500G>A (p.Gly500=)
n.1769G>A
n.250G>A
c.2214G>A (p.Gly738=)
c.1629G>A (p.Gly543=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.72805441G>CCA465185626TMC1c.1626G>C (p.Gly542=)
c.1188G>C (p.Gly396=)
c.1500G>C (p.Gly500=)
n.1769G>C
n.250G>C
c.2214G>C (p.Gly738=)
c.1629G>C (p.Gly543=)
9g.72805441G=CA1855113561TMC1c.1626G= (p.Gly542=)
c.1188G= (p.Gly396=)
c.1500G= (p.Gly500=)
n.1769G=
n.250G=
c.2214G= (p.Gly738=)
c.1629G= (p.Gly543=)
9g.72805441G>TCA465185628TMC1c.1626G>T (p.Gly542=)
c.1188G>T (p.Gly396=)
c.1500G>T (p.Gly500=)
n.1769G>T
n.250G>T
c.2214G>T (p.Gly738=)
c.1629G>T (p.Gly543=)
9g.72805442G>ACA373667626TMC1c.1627G>A (p.Asp543Asn)
c.1189G>A (p.Asp397Asn)
c.1501G>A (p.Asp501Asn)
n.1770G>A
n.251G>A
c.2215G>A (p.Asp739Asn)
c.1630G>A (p.Asp544Asn)
 ClinVar
9g.72805442G>CCA373667625TMC1c.1627G>C (p.Asp543His)
c.1189G>C (p.Asp397His)
c.1501G>C (p.Asp501His)
n.1770G>C
n.251G>C
c.2215G>C (p.Asp739His)
c.1630G>C (p.Asp544His)
9g.72805442G>TCA373667624TMC1c.1627G>T (p.Asp543Tyr)
c.1189G>T (p.Asp397Tyr)
c.1501G>T (p.Asp501Tyr)
n.1770G>T
n.251G>T
c.2215G>T (p.Asp739Tyr)
c.1630G>T (p.Asp544Tyr)
9g.72805443A>CCA373667627TMC1c.1628A>C (p.Asp543Ala)
c.1190A>C (p.Asp397Ala)
c.1502A>C (p.Asp501Ala)
n.1771A>C
n.252A>C
c.2216A>C (p.Asp739Ala)
c.1631A>C (p.Asp544Ala)
9g.72805443A>GCA373667628TMC1c.1628A>G (p.Asp543Gly)
c.1190A>G (p.Asp397Gly)
c.1502A>G (p.Asp501Gly)
n.1771A>G
n.252A>G
c.2216A>G (p.Asp739Gly)
c.1631A>G (p.Asp544Gly)
9g.72805443A>TCA373667629TMC1c.1628A>T (p.Asp543Val)
c.1190A>T (p.Asp397Val)
c.1502A>T (p.Asp501Val)
n.1771A>T
n.252A>T
c.2216A>T (p.Asp739Val)
c.1631A>T (p.Asp544Val)
9g.72805444C>ACA373667630TMC1c.1629C>A (p.Asp543Glu)
c.1191C>A (p.Asp397Glu)
c.1503C>A (p.Asp501Glu)
n.1772C>A
n.253C>A
c.2217C>A (p.Asp739Glu)
c.1632C>A (p.Asp544Glu)
9g.72805444C=CA1855113562TMC1c.1629C= (p.Asp543=)
c.1191C= (p.Asp397=)
c.1503C= (p.Asp501=)
n.1772C=
n.253C=
c.2217C= (p.Asp739=)
c.1632C= (p.Asp544=)
9g.72805444C>GCA373667631TMC1c.1629C>G (p.Asp543Glu)
c.1191C>G (p.Asp397Glu)
c.1503C>G (p.Asp501Glu)
n.1772C>G
n.253C>G
c.2217C>G (p.Asp739Glu)
c.1632C>G (p.Asp544Glu)
 dbSNP gnomAD v2 gnomAD v4
9g.72805444C>TCA5082004TMC1c.1629C>T (p.Asp543=)
c.1191C>T (p.Asp397=)
c.1503C>T (p.Asp501=)
n.1772C>T
n.253C>T
c.2217C>T (p.Asp739=)
c.1632C>T (p.Asp544=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.72805445T>ACA373667634TMC1c.1630T>A (p.Phe544Ile)
c.1192T>A (p.Phe398Ile)
c.1504T>A (p.Phe502Ile)
n.1773T>A
n.254T>A
c.2218T>A (p.Phe740Ile)
c.1633T>A (p.Phe545Ile)
9g.72805445T>CCA373667633TMC1c.1630T>C (p.Phe544Leu)
c.1192T>C (p.Phe398Leu)
c.1504T>C (p.Phe502Leu)
n.1773T>C
n.254T>C
c.2218T>C (p.Phe740Leu)
c.1633T>C (p.Phe545Leu)
9g.72805445T>GCA373667632TMC1c.1630T>G (p.Phe544Val)
c.1192T>G (p.Phe398Val)
c.1504T>G (p.Phe502Val)
n.1773T>G
n.254T>G
c.2218T>G (p.Phe740Val)
c.1633T>G (p.Phe545Val)
9g.72805446T>ACA373667635TMC1c.1631T>A (p.Phe544Tyr)
c.1193T>A (p.Phe398Tyr)
c.1505T>A (p.Phe502Tyr)
n.1774T>A
n.255T>A
c.2219T>A (p.Phe740Tyr)
c.1634T>A (p.Phe545Tyr)
9g.72805446T>CCA373667637TMC1c.1631T>C (p.Phe544Ser)
c.1193T>C (p.Phe398Ser)
c.1505T>C (p.Phe502Ser)
n.1774T>C
n.255T>C
c.2219T>C (p.Phe740Ser)
c.1634T>C (p.Phe545Ser)
 gnomAD v4
9g.72805446T>GCA373667636TMC1c.1631T>G (p.Phe544Cys)
c.1193T>G (p.Phe398Cys)
c.1505T>G (p.Phe502Cys)
n.1774T>G
n.255T>G
c.2219T>G (p.Phe740Cys)
c.1634T>G (p.Phe545Cys)
9g.72805447T>ACA373667638TMC1c.1632T>A (p.Phe544Leu)
c.1194T>A (p.Phe398Leu)
c.1506T>A (p.Phe502Leu)
n.1775T>A
n.256T>A
c.2220T>A (p.Phe740Leu)
c.1635T>A (p.Phe545Leu)
9g.72805447T>CCA5082005TMC1c.1632T>C (p.Phe544=)
c.1194T>C (p.Phe398=)
c.1506T>C (p.Phe502=)
n.1775T>C
n.256T>C
c.2220T>C (p.Phe740=)
c.1635T>C (p.Phe545=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.72805447T>GCA373667639TMC1c.1632T>G (p.Phe544Leu)
c.1194T>G (p.Phe398Leu)
c.1506T>G (p.Phe502Leu)
n.1775T>G
n.256T>G
c.2220T>G (p.Phe740Leu)
c.1635T>G (p.Phe545Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.72805447T=CA1855113563TMC1c.1632T= (p.Phe544=)
c.1194T= (p.Phe398=)
c.1506T= (p.Phe502=)
n.1775T=
n.256T=
c.2220T= (p.Phe740=)
c.1635T= (p.Phe545=)
9g.72805448C>ACA373667640TMC1c.1633C>A (p.Leu545Ile)
c.1195C>A (p.Leu399Ile)
c.1507C>A (p.Leu503Ile)
n.1776C>A
n.257C>A
c.2221C>A (p.Leu741Ile)
c.1636C>A (p.Leu546Ile)
 gnomAD v4
9g.72805448C=CA1855113564TMC1c.1633C= (p.Leu545=)
c.1195C= (p.Leu399=)
c.1507C= (p.Leu503=)
n.1776C=
n.257C=
c.2221C= (p.Leu741=)
c.1636C= (p.Leu546=)
9g.72805448C>GCA373667641TMC1c.1633C>G (p.Leu545Val)
c.1195C>G (p.Leu399Val)
c.1507C>G (p.Leu503Val)
n.1776C>G
n.257C>G
c.2221C>G (p.Leu741Val)
c.1636C>G (p.Leu546Val)
 dbSNP gnomAD v3 gnomAD v4
9g.72805448C>TCA465185652TMC1c.1633C>T (p.Leu545=)
c.1195C>T (p.Leu399=)
c.1507C>T (p.Leu503=)
n.1776C>T
n.257C>T
c.2221C>T (p.Leu741=)
c.1636C>T (p.Leu546=)
 ClinVar gnomAD v4
9g.72805449delCA2784613166TMC1c.1634del (p.Leu545GlnfsTer6)
c.1196del (p.Leu399GlnfsTer6)
c.1508del (p.Leu503GlnfsTer6)
n.1777del
n.258del
c.2222del (p.Leu741GlnfsTer6)
c.1637del (p.Leu546GlnfsTer6)
9g.72805449T>ACA373667642TMC1c.1634T>A (p.Leu545Gln)
c.1196T>A (p.Leu399Gln)
c.1508T>A (p.Leu503Gln)
n.1777T>A
n.258T>A
c.2222T>A (p.Leu741Gln)
c.1637T>A (p.Leu546Gln)
9g.72805449T>CCA373667644TMC1c.1634T>C (p.Leu545Pro)
c.1196T>C (p.Leu399Pro)
c.1508T>C (p.Leu503Pro)
n.1777T>C
n.258T>C
c.2222T>C (p.Leu741Pro)
c.1637T>C (p.Leu546Pro)
9g.72805449T>GCA373667643TMC1c.1634T>G (p.Leu545Arg)
c.1196T>G (p.Leu399Arg)
c.1508T>G (p.Leu503Arg)
n.1777T>G
n.258T>G
c.2222T>G (p.Leu741Arg)
c.1637T>G (p.Leu546Arg)
9g.72805450A>CCA465185658TMC1c.1635A>C (p.Leu545=)
c.1197A>C (p.Leu399=)
c.1509A>C (p.Leu503=)
n.1778A>C
n.259A>C
c.2223A>C (p.Leu741=)
c.1638A>C (p.Leu546=)
9g.72805450A>GCA465185659TMC1c.1635A>G (p.Leu545=)
c.1197A>G (p.Leu399=)
c.1509A>G (p.Leu503=)
n.1778A>G
n.259A>G
c.2223A>G (p.Leu741=)
c.1638A>G (p.Leu546=)
 gnomAD v4
9g.72805450A>TCA465185661TMC1c.1635A>T (p.Leu545=)
c.1197A>T (p.Leu399=)
c.1509A>T (p.Leu503=)
n.1778A>T
n.259A>T
c.2223A>T (p.Leu741=)
c.1638A>T (p.Leu546=)
9g.72805451A>CCA465185663TMC1c.1636A>C (p.Arg546=)
c.1198A>C (p.Arg400=)
c.1510A>C (p.Arg504=)
n.1779A>C
n.260A>C
c.2224A>C (p.Arg742=)
c.1639A>C (p.Arg547=)
9g.72805451A>GCA373667645TMC1c.1636A>G (p.Arg546Gly)
c.1198A>G (p.Arg400Gly)
c.1510A>G (p.Arg504Gly)
n.1779A>G
n.260A>G
c.2224A>G (p.Arg742Gly)
c.1639A>G (p.Arg547Gly)
9g.72805451A>TCA373667646TMC1c.1636A>T (p.Arg546Trp)
c.1198A>T (p.Arg400Trp)
c.1510A>T (p.Arg504Trp)
n.1779A>T
n.260A>T
c.2224A>T (p.Arg742Trp)
c.1639A>T (p.Arg547Trp)
9g.72805452G>ACA373667647TMC1c.1637G>A (p.Arg546Lys)
c.1199G>A (p.Arg400Lys)
c.1511G>A (p.Arg504Lys)
n.1780G>A
n.261G>A
c.2225G>A (p.Arg742Lys)
c.1640G>A (p.Arg547Lys)
 gnomAD v4
9g.72805452G>CCA373667648TMC1c.1637G>C (p.Arg546Thr)
c.1199G>C (p.Arg400Thr)
c.1511G>C (p.Arg504Thr)
n.1780G>C
n.261G>C
c.2225G>C (p.Arg742Thr)
c.1640G>C (p.Arg547Thr)
9g.72805452G>TCA373667649TMC1c.1637G>T (p.Arg546Met)
c.1199G>T (p.Arg400Met)
c.1511G>T (p.Arg504Met)
n.1780G>T
n.261G>T
c.2225G>T (p.Arg742Met)
c.1640G>T (p.Arg547Met)
9g.72805453G>ACA193290417TMC1c.1638G>A (p.Arg546=)
c.1200G>A (p.Arg400=)
c.1512G>A (p.Arg504=)
n.1781G>A
n.262G>A
c.2226G>A (p.Arg742=)
c.1641G>A (p.Arg547=)
 dbSNP gnomAD v4
9g.72805453G>CCA373667650TMC1c.1638G>C (p.Arg546Ser)
c.1200G>C (p.Arg400Ser)
c.1512G>C (p.Arg504Ser)
n.1781G>C
n.262G>C
c.2226G>C (p.Arg742Ser)
c.1641G>C (p.Arg547Ser)
9g.72805453G=CA1855113565TMC1c.1638G= (p.Arg546=)
c.1200G= (p.Arg400=)
c.1512G= (p.Arg504=)
n.1781G=
n.262G=
c.2226G= (p.Arg742=)
c.1641G= (p.Arg547=)
9g.72805453G>TCA373667651TMC1c.1638G>T (p.Arg546Ser)
c.1200G>T (p.Arg400Ser)
c.1512G>T (p.Arg504Ser)
n.1781G>T
n.262G>T
c.2226G>T (p.Arg742Ser)
c.1641G>T (p.Arg547Ser)
9g.72805454G>ACA373667652TMC1c.1639G>A (p.Ala547Thr)
c.1201G>A (p.Ala401Thr)
c.1513G>A (p.Ala505Thr)
n.1782G>A
n.263G>A
c.2227G>A (p.Ala743Thr)
c.1642G>A (p.Ala548Thr)
9g.72805454G>CCA373667653TMC1c.1639G>C (p.Ala547Pro)
c.1201G>C (p.Ala401Pro)
c.1513G>C (p.Ala505Pro)
n.1782G>C
n.263G>C
c.2227G>C (p.Ala743Pro)
c.1642G>C (p.Ala548Pro)
9g.72805454G>TCA373667654TMC1c.1639G>T (p.Ala547Ser)
c.1201G>T (p.Ala401Ser)
c.1513G>T (p.Ala505Ser)
n.1782G>T
n.263G>T
c.2227G>T (p.Ala743Ser)
c.1642G>T (p.Ala548Ser)
9g.72805455C>ACA373667655TMC1c.1640C>A (p.Ala547Glu)
c.1202C>A (p.Ala401Glu)
c.1514C>A (p.Ala505Glu)
n.1783C>A
n.264C>A
c.2228C>A (p.Ala743Glu)
c.1643C>A (p.Ala548Glu)
9g.72805455C>GCA373667656TMC1c.1640C>G (p.Ala547Gly)
c.1202C>G (p.Ala401Gly)
c.1514C>G (p.Ala505Gly)
n.1783C>G
n.264C>G
c.2228C>G (p.Ala743Gly)
c.1643C>G (p.Ala548Gly)
9g.72805455C>TCA373667657TMC1c.1640C>T (p.Ala547Val)
c.1202C>T (p.Ala401Val)
c.1514C>T (p.Ala505Val)
n.1783C>T
n.264C>T
c.2228C>T (p.Ala743Val)
c.1643C>T (p.Ala548Val)
9g.72805456A=CA1855113566TMC1c.1641A= (p.Ala547=)
c.1203A= (p.Ala401=)
c.1515A= (p.Ala505=)
n.1784A=
n.265A=
c.2229A= (p.Ala743=)
c.1644A= (p.Ala548=)
9g.72805456A>CCA465185683TMC1c.1641A>C (p.Ala547=)
c.1203A>C (p.Ala401=)
c.1515A>C (p.Ala505=)
n.1784A>C
n.265A>C
c.2229A>C (p.Ala743=)
c.1644A>C (p.Ala548=)
 gnomAD v4
9g.72805456A>GCA193290422TMC1c.1641A>G (p.Ala547=)
c.1203A>G (p.Ala401=)
c.1515A>G (p.Ala505=)
n.1784A>G
n.265A>G
c.2229A>G (p.Ala743=)
c.1644A>G (p.Ala548=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.72805456A>TCA465185685TMC1c.1641A>T (p.Ala547=)
c.1203A>T (p.Ala401=)
c.1515A>T (p.Ala505=)
n.1784A>T
n.265A>T
c.2229A>T (p.Ala743=)
c.1644A>T (p.Ala548=)
9g.72805457T>ACA373667658TMC1c.1642T>A (p.Cys548Ser)
c.1204T>A (p.Cys402Ser)
c.1516T>A (p.Cys506Ser)
n.1785T>A
n.266T>A
c.2230T>A (p.Cys744Ser)
c.1645T>A (p.Cys549Ser)
9g.72805457T>CCA373667660TMC1c.1642T>C (p.Cys548Arg)
c.1204T>C (p.Cys402Arg)
c.1516T>C (p.Cys506Arg)
n.1785T>C
n.266T>C
c.2230T>C (p.Cys744Arg)
c.1645T>C (p.Cys549Arg)
 dbSNP
9g.72805457T>GCA373667659TMC1c.1642T>G (p.Cys548Gly)
c.1204T>G (p.Cys402Gly)
c.1516T>G (p.Cys506Gly)
n.1785T>G
n.266T>G
c.2230T>G (p.Cys744Gly)
c.1645T>G (p.Cys549Gly)
9g.72805457T=CA1855113567TMC1c.1642T= (p.Cys548=)
c.1204T= (p.Cys402=)
c.1516T= (p.Cys506=)
n.1785T=
n.266T=
c.2230T= (p.Cys744=)
c.1645T= (p.Cys549=)
9g.72805458G>ACA373667661TMC1c.1643G>A (p.Cys548Tyr)
c.1205G>A (p.Cys402Tyr)
c.1517G>A (p.Cys506Tyr)
n.1786G>A
n.267G>A
c.2231G>A (p.Cys744Tyr)
c.1646G>A (p.Cys549Tyr)
9g.72805458G>CCA373667662TMC1c.1643G>C (p.Cys548Ser)
c.1205G>C (p.Cys402Ser)
c.1517G>C (p.Cys506Ser)
n.1786G>C
n.267G>C
c.2231G>C (p.Cys744Ser)
c.1646G>C (p.Cys549Ser)
9g.72805458G>TCA373667663TMC1c.1643G>T (p.Cys548Phe)
c.1205G>T (p.Cys402Phe)
c.1517G>T (p.Cys506Phe)
n.1786G>T
n.267G>T
c.2231G>T (p.Cys744Phe)
c.1646G>T (p.Cys549Phe)
9g.72805458_72805459delinsGTCA1855113568TMC1c.1643_1644delinsGT (p.Cys548=)
c.1205_1206delinsGT (p.Cys402=)
c.1517_1518delinsGT (p.Cys506=)
n.1786_1787delinsGT
n.267_268delinsGT
c.2231_2232delinsGT (p.Cys744=)
c.1646_1647delinsGT (p.Cys549=)
9g.72805459T>ACA373667664TMC1c.1644T>A (p.Cys548Ter)
c.1206T>A (p.Cys402Ter)
c.1518T>A (p.Cys506Ter)
n.1787T>A
n.268T>A
c.2232T>A (p.Cys744Ter)
c.1647T>A (p.Cys549Ter)
 dbSNP
9g.72805459T>CCA465185696TMC1c.1644T>C (p.Cys548=)
c.1206T>C (p.Cys402=)
c.1518T>C (p.Cys506=)
n.1787T>C
n.268T>C
c.2232T>C (p.Cys744=)
c.1647T>C (p.Cys549=)
9g.72805459T>GCA373667665TMC1c.1644T>G (p.Cys548Trp)
c.1206T>G (p.Cys402Trp)
c.1518T>G (p.Cys506Trp)
n.1787T>G
n.268T>G
c.2232T>G (p.Cys744Trp)
c.1647T>G (p.Cys549Trp)
 gnomAD v4
9g.72805462delCA588439383TMC1c.1647del (p.Phe549LeufsTer2)
c.1209del (p.Phe403LeufsTer2)
c.1521del (p.Phe507LeufsTer2)
n.1790del
n.271del
c.2235del (p.Phe745LeufsTer2)
c.1650del (p.Phe550LeufsTer2)
 dbSNP gnomAD v2 gnomAD v4
9g.72805460T>ACA373667666TMC1c.1645T>A (p.Phe549Ile)
c.1207T>A (p.Phe403Ile)
c.1519T>A (p.Phe507Ile)
n.1788T>A
n.269T>A
c.2233T>A (p.Phe745Ile)
c.1648T>A (p.Phe550Ile)
9g.72805460T>CCA373667667TMC1c.1645T>C (p.Phe549Leu)
c.1207T>C (p.Phe403Leu)
c.1519T>C (p.Phe507Leu)
n.1788T>C
n.269T>C
c.2233T>C (p.Phe745Leu)
c.1648T>C (p.Phe550Leu)
9g.72805460T>GCA373667668TMC1c.1645T>G (p.Phe549Val)
c.1207T>G (p.Phe403Val)
c.1519T>G (p.Phe507Val)
n.1788T>G
n.269T>G
c.2233T>G (p.Phe745Val)
c.1648T>G (p.Phe550Val)
9g.72805461T>ACA373667669TMC1c.1646T>A (p.Phe549Tyr)
c.1208T>A (p.Phe403Tyr)
c.1520T>A (p.Phe507Tyr)
n.1789T>A
n.270T>A
c.2234T>A (p.Phe745Tyr)
c.1649T>A (p.Phe550Tyr)
9g.72805461T>CCA373667670TMC1c.1646T>C (p.Phe549Ser)
c.1208T>C (p.Phe403Ser)
c.1520T>C (p.Phe507Ser)
n.1789T>C
n.270T>C
c.2234T>C (p.Phe745Ser)
c.1649T>C (p.Phe550Ser)
9g.72805461T>GCA373667671TMC1c.1646T>G (p.Phe549Cys)
c.1208T>G (p.Phe403Cys)
c.1520T>G (p.Phe507Cys)
n.1789T>G
n.270T>G
c.2234T>G (p.Phe745Cys)
c.1649T>G (p.Phe550Cys)
9g.72805462T>ACA373667673TMC1c.1647T>A (p.Phe549Leu)
c.1209T>A (p.Phe403Leu)
c.1521T>A (p.Phe507Leu)
n.1790T>A
n.271T>A
c.2235T>A (p.Phe745Leu)
c.1650T>A (p.Phe550Leu)
 gnomAD v4
9g.72805462T>CCA465185705TMC1c.1647T>C (p.Phe549=)
c.1209T>C (p.Phe403=)
c.1521T>C (p.Phe507=)
n.1790T>C
n.271T>C
c.2235T>C (p.Phe745=)
c.1650T>C (p.Phe550=)
9g.72805462T>GCA373667672TMC1c.1647T>G (p.Phe549Leu)
c.1209T>G (p.Phe403Leu)
c.1521T>G (p.Phe507Leu)
n.1790T>G
n.271T>G
c.2235T>G (p.Phe745Leu)
c.1650T>G (p.Phe550Leu)
9g.72805463G>ACA373667674TMC1c.1648G>A (p.Val550Met)
c.1210G>A (p.Val404Met)
c.1522G>A (p.Val508Met)
n.1791G>A
n.272G>A
c.2236G>A (p.Val746Met)
c.1651G>A (p.Val551Met)
9g.72805463G>CCA373667675TMC1c.1648G>C (p.Val550Leu)
c.1210G>C (p.Val404Leu)
c.1522G>C (p.Val508Leu)
n.1791G>C
n.272G>C
c.2236G>C (p.Val746Leu)
c.1651G>C (p.Val551Leu)
 gnomAD v4
9g.72805463G=CA1855113569TMC1c.1648G= (p.Val550=)
c.1210G= (p.Val404=)
c.1522G= (p.Val508=)
n.1791G=
n.272G=
c.2236G= (p.Val746=)
c.1651G= (p.Val551=)
9g.72805463G>TCA5082006TMC1c.1648G>T (p.Val550Leu)
c.1210G>T (p.Val404Leu)
c.1522G>T (p.Val508Leu)
n.1791G>T
n.272G>T
c.2236G>T (p.Val746Leu)
c.1651G>T (p.Val551Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.72805464T>ACA373667676TMC1c.1649T>A (p.Val550Glu)
c.1211T>A (p.Val404Glu)
c.1523T>A (p.Val508Glu)
n.1792T>A
n.273T>A
c.2237T>A (p.Val746Glu)
c.1652T>A (p.Val551Glu)
9g.72805464T>CCA373667677TMC1c.1649T>C (p.Val550Ala)
c.1211T>C (p.Val404Ala)
c.1523T>C (p.Val508Ala)
n.1792T>C
n.273T>C
c.2237T>C (p.Val746Ala)
c.1652T>C (p.Val551Ala)
9g.72805464T>GCA373667678TMC1c.1649T>G (p.Val550Gly)
c.1211T>G (p.Val404Gly)
c.1523T>G (p.Val508Gly)
n.1792T>G
n.273T>G
c.2237T>G (p.Val746Gly)
c.1652T>G (p.Val551Gly)
9g.72805465G>ACA465185716TMC1c.1650G>A (p.Val550=)
c.1212G>A (p.Val404=)
c.1524G>A (p.Val508=)
n.1793G>A
n.274G>A
c.2238G>A (p.Val746=)
c.1653G>A (p.Val551=)
9g.72805465G>CCA465185719TMC1c.1650G>C (p.Val550=)
c.1212G>C (p.Val404=)
c.1524G>C (p.Val508=)
n.1793G>C
n.274G>C
c.2238G>C (p.Val746=)
c.1653G>C (p.Val551=)
9g.72805465G>TCA465185721TMC1c.1650G>T (p.Val550=)
c.1212G>T (p.Val404=)
c.1524G>T (p.Val508=)
n.1793G>T
n.274G>T
c.2238G>T (p.Val746=)
c.1653G>T (p.Val551=)
9g.72805466A>CCA465185724TMC1c.1651A>C (p.Arg551=)
c.1213A>C (p.Arg405=)
c.1525A>C (p.Arg509=)
n.1794A>C
n.275A>C
c.2239A>C (p.Arg747=)
c.1654A>C (p.Arg552=)
 gnomAD v4
9g.72805466A>GCA373667679TMC1c.1651A>G (p.Arg551Gly)
c.1213A>G (p.Arg405Gly)
c.1525A>G (p.Arg509Gly)
n.1794A>G
n.275A>G
c.2239A>G (p.Arg747Gly)
c.1654A>G (p.Arg552Gly)
9g.72805466A>TCA373667680TMC1c.1651A>T (p.Arg551Trp)
c.1213A>T (p.Arg405Trp)
c.1525A>T (p.Arg509Trp)
n.1794A>T
n.275A>T
c.2239A>T (p.Arg747Trp)
c.1654A>T (p.Arg552Trp)
9g.72805467G>ACA5082007TMC1c.1652G>A (p.Arg551Lys)
c.1214G>A (p.Arg405Lys)
c.1526G>A (p.Arg509Lys)
n.1795G>A
n.276G>A
c.2240G>A (p.Arg747Lys)
c.1655G>A (p.Arg552Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.72805467G>CCA373667681TMC1c.1652G>C (p.Arg551Thr)
c.1214G>C (p.Arg405Thr)
c.1526G>C (p.Arg509Thr)
n.1795G>C
n.276G>C
c.2240G>C (p.Arg747Thr)
c.1655G>C (p.Arg552Thr)
9g.72805467G=CA1855113570TMC1c.1652G= (p.Arg551=)
c.1214G= (p.Arg405=)
c.1526G= (p.Arg509=)
n.1795G=
n.276G=
c.2240G= (p.Arg747=)
c.1655G= (p.Arg552=)
9g.72805467G>TCA373667682TMC1c.1652G>T (p.Arg551Met)
c.1214G>T (p.Arg405Met)
c.1526G>T (p.Arg509Met)
n.1795G>T
n.276G>T
c.2240G>T (p.Arg747Met)
c.1655G>T (p.Arg552Met)
9g.72805468G>ACA465185732TMC1c.1653G>A (p.Arg551=)
c.1215G>A (p.Arg405=)
c.1527G>A (p.Arg509=)
n.1796G>A
n.277G>A
c.2241G>A (p.Arg747=)
c.1656G>A (p.Arg552=)
 ClinVar
9g.72805468G>CCA373667683TMC1c.1653G>C (p.Arg551Ser)
c.1215G>C (p.Arg405Ser)
c.1527G>C (p.Arg509Ser)
n.1796G>C
n.277G>C
c.2241G>C (p.Arg747Ser)
c.1656G>C (p.Arg552Ser)
 COSMIC
9g.72805468G>TCA373667684TMC1c.1653G>T (p.Arg551Ser)
c.1215G>T (p.Arg405Ser)
c.1527G>T (p.Arg509Ser)
n.1796G>T
n.277G>T
c.2241G>T (p.Arg747Ser)
c.1656G>T (p.Arg552Ser)
9g.72805469T>ACA373667687TMC1c.1654T>A (p.Phe552Ile)
c.1216T>A (p.Phe406Ile)
c.1528T>A (p.Phe510Ile)
n.1797T>A
n.278T>A
c.2242T>A (p.Phe748Ile)
c.1657T>A (p.Phe553Ile)
9g.72805469T>CCA373667686TMC1c.1654T>C (p.Phe552Leu)
c.1216T>C (p.Phe406Leu)
c.1528T>C (p.Phe510Leu)
n.1797T>C
n.278T>C
c.2242T>C (p.Phe748Leu)
c.1657T>C (p.Phe553Leu)
9g.72805469T>GCA373667685TMC1c.1654T>G (p.Phe552Val)
c.1216T>G (p.Phe406Val)
c.1528T>G (p.Phe510Val)
n.1797T>G
n.278T>G
c.2242T>G (p.Phe748Val)
c.1657T>G (p.Phe553Val)
9g.72805470T>ACA373667688TMC1c.1655T>A (p.Phe552Tyr)
c.1217T>A (p.Phe406Tyr)
c.1529T>A (p.Phe510Tyr)
n.1798T>A
n.279T>A
c.2243T>A (p.Phe748Tyr)
c.1658T>A (p.Phe553Tyr)
9g.72805470T>CCA373667689TMC1c.1655T>C (p.Phe552Ser)
c.1217T>C (p.Phe406Ser)
c.1529T>C (p.Phe510Ser)
n.1798T>C
n.279T>C
c.2243T>C (p.Phe748Ser)
c.1658T>C (p.Phe553Ser)
9g.72805470T>GCA373667690TMC1c.1655T>G (p.Phe552Cys)
c.1217T>G (p.Phe406Cys)
c.1529T>G (p.Phe510Cys)
n.1798T>G
n.279T>G
c.2243T>G (p.Phe748Cys)
c.1658T>G (p.Phe553Cys)
 gnomAD v4
9g.72805471T>ACA373667691TMC1c.1656T>A (p.Phe552Leu)
c.1218T>A (p.Phe406Leu)
c.1530T>A (p.Phe510Leu)
n.1799T>A
n.280T>A
c.2244T>A (p.Phe748Leu)
c.1659T>A (p.Phe553Leu)
9g.72805471T>CCA465185744TMC1c.1656T>C (p.Phe552=)
c.1218T>C (p.Phe406=)
c.1530T>C (p.Phe510=)
n.1799T>C
n.280T>C
c.2244T>C (p.Phe748=)
c.1659T>C (p.Phe553=)
9g.72805471T>GCA373667692TMC1c.1656T>G (p.Phe552Leu)
c.1218T>G (p.Phe406Leu)
c.1530T>G (p.Phe510Leu)
n.1799T>G
n.280T>G
c.2244T>G (p.Phe748Leu)
c.1659T>G (p.Phe553Leu)
9g.72805472T>ACA373667693TMC1c.1657T>A (p.Cys553Ser)
c.1219T>A (p.Cys407Ser)
c.1531T>A (p.Cys511Ser)
n.1800T>A
n.281T>A
c.2245T>A (p.Cys749Ser)
c.1660T>A (p.Cys554Ser)
9g.72805472T>CCA373667694TMC1c.1657T>C (p.Cys553Arg)
c.1219T>C (p.Cys407Arg)
c.1531T>C (p.Cys511Arg)
n.1800T>C
n.281T>C
c.2245T>C (p.Cys749Arg)
c.1660T>C (p.Cys554Arg)
 gnomAD v4 COSMIC
9g.72805472T>GCA373667695TMC1c.1657T>G (p.Cys553Gly)
c.1219T>G (p.Cys407Gly)
c.1531T>G (p.Cys511Gly)
n.1800T>G
n.281T>G
c.2245T>G (p.Cys749Gly)
c.1660T>G (p.Cys554Gly)
9g.72805473G>ACA373667696TMC1c.1658G>A (p.Cys553Tyr)
c.1220G>A (p.Cys407Tyr)
c.1532G>A (p.Cys511Tyr)
n.1801G>A
n.282G>A
c.2246G>A (p.Cys749Tyr)
c.1661G>A (p.Cys554Tyr)
 gnomAD v4
9g.72805473G>CCA373667697TMC1c.1658G>C (p.Cys553Ser)
c.1220G>C (p.Cys407Ser)
c.1532G>C (p.Cys511Ser)
n.1801G>C
n.282G>C
c.2246G>C (p.Cys749Ser)
c.1661G>C (p.Cys554Ser)
9g.72805473G=CA1855113571TMC1c.1658G= (p.Cys553=)
c.1220G= (p.Cys407=)
c.1532G= (p.Cys511=)
n.1801G=
n.282G=
c.2246G= (p.Cys749=)
c.1661G= (p.Cys554=)
9g.72805473G>TCA5082008TMC1c.1658G>T (p.Cys553Phe)
c.1220G>T (p.Cys407Phe)
c.1532G>T (p.Cys511Phe)
n.1801G>T
n.282G>T
c.2246G>T (p.Cys749Phe)
c.1661G>T (p.Cys554Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.72805474C>ACA373667698TMC1c.1659C>A (p.Cys553Ter)
c.1221C>A (p.Cys407Ter)
c.1533C>A (p.Cys511Ter)
n.1802C>A
n.283C>A
c.2247C>A (p.Cys749Ter)
c.1662C>A (p.Cys554Ter)
9g.72805474C>GCA373667699TMC1c.1659C>G (p.Cys553Trp)
c.1221C>G (p.Cys407Trp)
c.1533C>G (p.Cys511Trp)
n.1802C>G
n.283C>G
c.2247C>G (p.Cys749Trp)
c.1662C>G (p.Cys554Trp)
9g.72805474C>TCA465185754TMC1c.1659C>T (p.Cys553=)
c.1221C>T (p.Cys407=)
c.1533C>T (p.Cys511=)
n.1802C>T
n.283C>T
c.2247C>T (p.Cys749=)
c.1662C>T (p.Cys554=)
9g.72805475A=CA1855113572TMC1c.1660A= (p.Asn554=)
c.1222A= (p.Asn408=)
c.1534A= (p.Asn512=)
n.1803A=
n.284A=
c.2248A= (p.Asn750=)
c.1663A= (p.Asn555=)
9g.72805475A>CCA373667700TMC1c.1660A>C (p.Asn554His)
c.1222A>C (p.Asn408His)
c.1534A>C (p.Asn512His)
n.1803A>C
n.284A>C
c.2248A>C (p.Asn750His)
c.1663A>C (p.Asn555His)
9g.72805475A>GCA373667701TMC1c.1660A>G (p.Asn554Asp)
c.1222A>G (p.Asn408Asp)
c.1534A>G (p.Asn512Asp)
n.1803A>G
n.284A>G
c.2248A>G (p.Asn750Asp)
c.1663A>G (p.Asn555Asp)
 COSMIC
9g.72805475A>TCA5082009TMC1c.1660A>T (p.Asn554Tyr)
c.1222A>T (p.Asn408Tyr)
c.1534A>T (p.Asn512Tyr)
n.1803A>T
n.284A>T
c.2248A>T (p.Asn750Tyr)
c.1663A>T (p.Asn555Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.72805476A=CA1855113573TMC1c.1661A= (p.Asn554=)
c.1223A= (p.Asn408=)
c.1535A= (p.Asn512=)
n.1804A=
n.285A=
c.2249A= (p.Asn750=)
c.1664A= (p.Asn555=)
9g.72805476A>CCA373667702TMC1c.1661A>C (p.Asn554Thr)
c.1223A>C (p.Asn408Thr)
c.1535A>C (p.Asn512Thr)
n.1804A>C
n.285A>C
c.2249A>C (p.Asn750Thr)
c.1664A>C (p.Asn555Thr)
9g.72805476A>GCA193290437TMC1c.1661A>G (p.Asn554Ser)
c.1223A>G (p.Asn408Ser)
c.1535A>G (p.Asn512Ser)
n.1804A>G
n.285A>G
c.2249A>G (p.Asn750Ser)
c.1664A>G (p.Asn555Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.72805476A>TCA373667703TMC1c.1661A>T (p.Asn554Ile)
c.1223A>T (p.Asn408Ile)
c.1535A>T (p.Asn512Ile)
n.1804A>T
n.285A>T
c.2249A>T (p.Asn750Ile)
c.1664A>T (p.Asn555Ile)
9g.72805477T>ACA373667704TMC1c.1662T>A (p.Asn554Lys)
c.1224T>A (p.Asn408Lys)
c.1536T>A (p.Asn512Lys)
n.1805T>A
n.286T>A
c.2250T>A (p.Asn750Lys)
c.1665T>A (p.Asn555Lys)
9g.72805477T>CCA465185767TMC1c.1662T>C (p.Asn554=)
c.1224T>C (p.Asn408=)
c.1536T>C (p.Asn512=)
n.1805T>C
n.286T>C
c.2250T>C (p.Asn750=)
c.1665T>C (p.Asn555=)
 gnomAD v4
9g.72805477T>GCA373667705TMC1c.1662T>G (p.Asn554Lys)
c.1224T>G (p.Asn408Lys)
c.1536T>G (p.Asn512Lys)
n.1805T>G
n.286T>G
c.2250T>G (p.Asn750Lys)
c.1665T>G (p.Asn555Lys)
9g.72805478T>ACA373667706TMC1c.1663T>A (p.Tyr555Asn)
c.1225T>A (p.Tyr409Asn)
c.1537T>A (p.Tyr513Asn)
n.1806T>A
n.287T>A
c.2251T>A (p.Tyr751Asn)
c.1666T>A (p.Tyr556Asn)
9g.72805478T>CCA373667707TMC1c.1663T>C (p.Tyr555His)
c.1225T>C (p.Tyr409His)
c.1537T>C (p.Tyr513His)
n.1806T>C
n.287T>C
c.2251T>C (p.Tyr751His)
c.1666T>C (p.Tyr556His)
9g.72805478T>GCA373667708TMC1c.1663T>G (p.Tyr555Asp)
c.1225T>G (p.Tyr409Asp)
c.1537T>G (p.Tyr513Asp)
n.1806T>G
n.287T>G
c.2251T>G (p.Tyr751Asp)
c.1666T>G (p.Tyr556Asp)
 ClinVar
9g.72805479_72805480delCA2690288655TMC1c.1664_1665del (p.Tyr555LeufsTer?)
c.1226_1227del (p.Tyr409LeufsTer?)
c.1538_1539del (p.Tyr513LeufsTer?)
n.1807_1808del
n.288_289del
c.2252_2253del (p.Tyr751LeufsTer?)
c.1667_1668del (p.Tyr556LeufsTer?)
 gnomAD v4
9g.72805479A=CA1855113574TMC1c.1664A= (p.Tyr555=)
c.1226A= (p.Tyr409=)
c.1538A= (p.Tyr513=)
n.1807A=
n.288A=
c.2252A= (p.Tyr751=)
c.1667A= (p.Tyr556=)
9g.72805479A>CCA373667709TMC1c.1664A>C (p.Tyr555Ser)
c.1226A>C (p.Tyr409Ser)
c.1538A>C (p.Tyr513Ser)
n.1807A>C
n.288A>C
c.2252A>C (p.Tyr751Ser)
c.1667A>C (p.Tyr556Ser)
9g.72805479A>GCA373667710TMC1c.1664A>G (p.Tyr555Cys)
c.1226A>G (p.Tyr409Cys)
c.1538A>G (p.Tyr513Cys)
n.1807A>G
n.288A>G
c.2252A>G (p.Tyr751Cys)
c.1667A>G (p.Tyr556Cys)
9g.72805479A>TCA373667711TMC1c.1664A>T (p.Tyr555Phe)
c.1226A>T (p.Tyr409Phe)
c.1538A>T (p.Tyr513Phe)
n.1807A>T
n.288A>T
c.2252A>T (p.Tyr751Phe)
c.1667A>T (p.Tyr556Phe)
9g.72805480T>ACA373667712TMC1c.1665T>A (p.Tyr555Ter)
c.1227T>A (p.Tyr409Ter)
c.1539T>A (p.Tyr513Ter)
n.1808T>A
n.289T>A
c.2253T>A (p.Tyr751Ter)
c.1668T>A (p.Tyr556Ter)
9g.72805480T>CCA465185778TMC1c.1665T>C (p.Tyr555=)
c.1227T>C (p.Tyr409=)
c.1539T>C (p.Tyr513=)
n.1808T>C
n.289T>C
c.2253T>C (p.Tyr751=)
c.1668T>C (p.Tyr556=)
 ClinVar dbSNP gnomAD v4
9g.72805480T>GCA373667713TMC1c.1665T>G (p.Tyr555Ter)
c.1227T>G (p.Tyr409Ter)
c.1539T>G (p.Tyr513Ter)
n.1808T>G
n.289T>G
c.2253T>G (p.Tyr751Ter)
c.1668T>G (p.Tyr556Ter)
9g.72805480T=CA1855113575TMC1c.1665T= (p.Tyr555=)
c.1227T= (p.Tyr409=)
c.1539T= (p.Tyr513=)
n.1808T=
n.289T=
c.2253T= (p.Tyr751=)
c.1668T= (p.Tyr556=)
9g.72805481dupCA866630054TMC1c.1666dup (p.Cys556LeufsTer?)
c.1228dup (p.Cys410LeufsTer?)
c.1540dup (p.Cys514LeufsTer?)
n.1809dup
n.290dup
c.2254dup (p.Cys752LeufsTer?)
c.1669dup (p.Cys557LeufsTer?)
 dbSNP
9g.72805481T>ACA373667716TMC1c.1666T>A (p.Cys556Ser)
c.1228T>A (p.Cys410Ser)
c.1540T>A (p.Cys514Ser)
n.1809T>A
n.290T>A
c.2254T>A (p.Cys752Ser)
c.1669T>A (p.Cys557Ser)
9g.72805481T>CCA373667715TMC1c.1666T>C (p.Cys556Arg)
c.1228T>C (p.Cys410Arg)
c.1540T>C (p.Cys514Arg)
n.1809T>C
n.290T>C
c.2254T>C (p.Cys752Arg)
c.1669T>C (p.Cys557Arg)
9g.72805481T>GCA373667714TMC1c.1666T>G (p.Cys556Gly)
c.1228T>G (p.Cys410Gly)
c.1540T>G (p.Cys514Gly)
n.1809T>G
n.290T>G
c.2254T>G (p.Cys752Gly)
c.1669T>G (p.Cys557Gly)
9g.72805482G>ACA373667717TMC1c.1667G>A (p.Cys556Tyr)
c.1229G>A (p.Cys410Tyr)
c.1541G>A (p.Cys514Tyr)
n.1810G>A
n.291G>A
c.2255G>A (p.Cys752Tyr)
c.1670G>A (p.Cys557Tyr)
9g.72805482G>CCA373667718TMC1c.1667G>C (p.Cys556Ser)
c.1229G>C (p.Cys410Ser)
c.1541G>C (p.Cys514Ser)
n.1810G>C
n.291G>C
c.2255G>C (p.Cys752Ser)
c.1670G>C (p.Cys557Ser)
9g.72805482G>TCA373667719TMC1c.1667G>T (p.Cys556Phe)
c.1229G>T (p.Cys410Phe)
c.1541G>T (p.Cys514Phe)
n.1810G>T
n.291G>T
c.2255G>T (p.Cys752Phe)
c.1670G>T (p.Cys557Phe)
9g.72805483C>ACA373667720TMC1c.1668C>A (p.Cys556Ter)
c.1230C>A (p.Cys410Ter)
c.1542C>A (p.Cys514Ter)
n.1811C>A
n.292C>A
c.2256C>A (p.Cys752Ter)
c.1671C>A (p.Cys557Ter)
9g.72805483C>GCA373667721TMC1c.1668C>G (p.Cys556Trp)
c.1230C>G (p.Cys410Trp)
c.1542C>G (p.Cys514Trp)
n.1811C>G
n.292C>G
c.2256C>G (p.Cys752Trp)
c.1671C>G (p.Cys557Trp)
 gnomAD v4
9g.72805483C>TCA465185788TMC1c.1668C>T (p.Cys556=)
c.1230C>T (p.Cys410=)
c.1542C>T (p.Cys514=)
n.1811C>T
n.292C>T
c.2256C>T (p.Cys752=)
c.1671C>T (p.Cys557=)
 gnomAD v3 gnomAD v4
9g.72805484T>ACA373667722TMC1c.1669T>A (p.Trp557Arg)
c.1231T>A (p.Trp411Arg)
c.1543T>A (p.Trp515Arg)
n.1812T>A
n.293T>A
c.2257T>A (p.Trp753Arg)
c.1672T>A (p.Trp558Arg)
9g.72805484T>CCA373667723TMC1c.1669T>C (p.Trp557Arg)
c.1231T>C (p.Trp411Arg)
c.1543T>C (p.Trp515Arg)
n.1812T>C
n.293T>C
c.2257T>C (p.Trp753Arg)
c.1672T>C (p.Trp558Arg)
9g.72805484T>GCA373667724TMC1c.1669T>G (p.Trp557Gly)
c.1231T>G (p.Trp411Gly)
c.1543T>G (p.Trp515Gly)
n.1812T>G
n.293T>G
c.2257T>G (p.Trp753Gly)
c.1672T>G (p.Trp558Gly)
9g.72805485G>ACA373667725TMC1c.1670G>A (p.Trp557Ter)
c.1232G>A (p.Trp411Ter)
c.1544G>A (p.Trp515Ter)
n.1813G>A
n.294G>A
c.2258G>A (p.Trp753Ter)
c.1673G>A (p.Trp558Ter)
9g.72805485G>CCA373667726TMC1c.1670G>C (p.Trp557Ser)
c.1232G>C (p.Trp411Ser)
c.1544G>C (p.Trp515Ser)
n.1813G>C
n.294G>C
c.2258G>C (p.Trp753Ser)
c.1673G>C (p.Trp558Ser)
 ClinVar
9g.72805485G>TCA373667727TMC1c.1670G>T (p.Trp557Leu)
c.1232G>T (p.Trp411Leu)
c.1544G>T (p.Trp515Leu)
n.1813G>T
n.294G>T
c.2258G>T (p.Trp753Leu)
c.1673G>T (p.Trp558Leu)
9g.72805486G>ACA373667729TMC1c.1671G>A (p.Trp557Ter)
c.1233G>A (p.Trp411Ter)
c.1545G>A (p.Trp515Ter)
n.1814G>A
n.295G>A
c.2259G>A (p.Trp753Ter)
c.1674G>A (p.Trp558Ter)
9g.72805486G>CCA373667730TMC1c.1671G>C (p.Trp557Cys)
c.1233G>C (p.Trp411Cys)
c.1545G>C (p.Trp515Cys)
n.1814G>C
n.295G>C
c.2259G>C (p.Trp753Cys)
c.1674G>C (p.Trp558Cys)
 dbSNP gnomAD v3 gnomAD v4
9g.72805486G=CA1855113576TMC1c.1671G= (p.Trp557=)
c.1233G= (p.Trp411=)
c.1545G= (p.Trp515=)
n.1814G=
n.295G=
c.2259G= (p.Trp753=)
c.1674G= (p.Trp558=)
9g.72805486G>TCA373667728TMC1c.1671G>T (p.Trp557Cys)
c.1233G>T (p.Trp411Cys)
c.1545G>T (p.Trp515Cys)
n.1814G>T
n.295G>T
c.2259G>T (p.Trp753Cys)
c.1674G>T (p.Trp558Cys)
 dbSNP gnomAD v2 gnomAD v4
9g.72805487T>ACA373667731TMC1c.1672T>A (p.Cys558Ser)
c.1234T>A (p.Cys412Ser)
c.1546T>A (p.Cys516Ser)
n.1815T>A
n.296T>A
c.2260T>A (p.Cys754Ser)
c.1675T>A (p.Cys559Ser)
9g.72805487T>CCA373667732TMC1c.1672T>C (p.Cys558Arg)
c.1234T>C (p.Cys412Arg)
c.1546T>C (p.Cys516Arg)
n.1815T>C
n.296T>C
c.2260T>C (p.Cys754Arg)
c.1675T>C (p.Cys559Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.72805487T>GCA373667733TMC1c.1672T>G (p.Cys558Gly)
c.1234T>G (p.Cys412Gly)
c.1546T>G (p.Cys516Gly)
n.1815T>G
n.296T>G
c.2260T>G (p.Cys754Gly)
c.1675T>G (p.Cys559Gly)
 dbSNP
9g.72805487T=CA1855113577TMC1c.1672T= (p.Cys558=)
c.1234T= (p.Cys412=)
c.1546T= (p.Cys516=)
n.1815T=
n.296T=
c.2260T= (p.Cys754=)
c.1675T= (p.Cys559=)
9g.72805487dupCA2690288656TMC1c.1672dup (p.Cys558LeufsTer?)
c.1234dup (p.Cys412LeufsTer?)
c.1546dup (p.Cys516LeufsTer?)
n.1815dup
n.296dup
c.2260dup (p.Cys754LeufsTer?)
c.1675dup (p.Cys559LeufsTer?)
 gnomAD v4
9g.72805488G>ACA373667734TMC1c.1673G>A (p.Cys558Tyr)
c.1235G>A (p.Cys412Tyr)
c.1547G>A (p.Cys516Tyr)
n.1816G>A
n.297G>A
c.2261G>A (p.Cys754Tyr)
c.1676G>A (p.Cys559Tyr)
9g.72805488G>CCA373667735TMC1c.1673G>C (p.Cys558Ser)
c.1235G>C (p.Cys412Ser)
c.1547G>C (p.Cys516Ser)
n.1816G>C
n.297G>C
c.2261G>C (p.Cys754Ser)
c.1676G>C (p.Cys559Ser)
9g.72805488G>TCA373667736TMC1c.1673G>T (p.Cys558Phe)
c.1235G>T (p.Cys412Phe)
c.1547G>T (p.Cys516Phe)
n.1816G>T
n.297G>T
c.2261G>T (p.Cys754Phe)
c.1676G>T (p.Cys559Phe)
9g.72805489C>ACA373667738TMC1c.1674C>A (p.Cys558Ter)
c.1236C>A (p.Cys412Ter)
c.1548C>A (p.Cys516Ter)
n.1817C>A
n.298C>A
c.2262C>A (p.Cys754Ter)
c.1677C>A (p.Cys559Ter)
9g.72805489C>GCA373667737TMC1c.1674C>G (p.Cys558Trp)
c.1236C>G (p.Cys412Trp)
c.1548C>G (p.Cys516Trp)
n.1817C>G
n.298C>G
c.2262C>G (p.Cys754Trp)
c.1677C>G (p.Cys559Trp)
9g.72805489C>TCA465185809TMC1c.1674C>T (p.Cys558=)
c.1236C>T (p.Cys412=)
c.1548C>T (p.Cys516=)
n.1817C>T
n.298C>T
c.2262C>T (p.Cys754=)
c.1677C>T (p.Cys559=)
9g.72805490T>ACA373667739TMC1c.1675T>A (p.Trp559Arg)
c.1237T>A (p.Trp413Arg)
c.1549T>A (p.Trp517Arg)
n.1818T>A
n.299T>A
c.2263T>A (p.Trp755Arg)
c.1678T>A (p.Trp560Arg)
9g.72805490T>CCA373667740TMC1c.1675T>C (p.Trp559Arg)
c.1237T>C (p.Trp413Arg)
c.1549T>C (p.Trp517Arg)
n.1818T>C
n.299T>C
c.2263T>C (p.Trp755Arg)
c.1678T>C (p.Trp560Arg)
9g.72805490T>GCA373667741TMC1c.1675T>G (p.Trp559Gly)
c.1237T>G (p.Trp413Gly)
c.1549T>G (p.Trp517Gly)
n.1818T>G
n.299T>G
c.2263T>G (p.Trp755Gly)
c.1678T>G (p.Trp560Gly)
9g.72805491G>ACA10576754TMC1c.1676G>A (p.Trp559Ter)
c.1238G>A (p.Trp413Ter)
c.1550G>A (p.Trp517Ter)
n.1819G>A
n.300G>A
c.2264G>A (p.Trp755Ter)
c.1679G>A (p.Trp560Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.72805491G>CCA373667742TMC1c.1676G>C (p.Trp559Ser)
c.1238G>C (p.Trp413Ser)
c.1550G>C (p.Trp517Ser)
n.1819G>C
n.300G>C
c.2264G>C (p.Trp755Ser)
c.1679G>C (p.Trp560Ser)
9g.72805491G=CA1855113578TMC1c.1676G= (p.Trp559=)
c.1238G= (p.Trp413=)
c.1550G= (p.Trp517=)
n.1819G=
n.300G=
c.2264G= (p.Trp755=)
c.1679G= (p.Trp560=)
9g.72805491G>TCA373667743TMC1c.1676G>T (p.Trp559Leu)
c.1238G>T (p.Trp413Leu)
c.1550G>T (p.Trp517Leu)
n.1819G>T
n.300G>T
c.2264G>T (p.Trp755Leu)
c.1679G>T (p.Trp560Leu)
9g.72805491_72805504delinsGGGACTTGGAGTATCA1855113579TMC1c.1676_1689delinsGGGACTTGGAGTAT (p.Trp559=)
c.1238_1251delinsGGGACTTGGAGTAT (p.Trp413=)
c.1550_1563delinsGGGACTTGGAGTAT (p.Trp517=)
n.1819_1832delinsGGGACTTGGAGTAT
n.300_313delinsGGGACTTGGAGTAT
c.2264_2277delinsGGGACTTGGAGTAT (p.Trp755=)
c.1679_1692delinsGGGACTTGGAGTAT (p.Trp560=)
9g.72805492G>ACA10576755TMC1c.1677G>A (p.Trp559Ter)
c.1239G>A (p.Trp413Ter)
c.1551G>A (p.Trp517Ter)
n.1820G>A
n.301G>A
c.2265G>A (p.Trp755Ter)
c.1680G>A (p.Trp560Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.72805492G>CCA373667745TMC1c.1677G>C (p.Trp559Cys)
c.1239G>C (p.Trp413Cys)
c.1551G>C (p.Trp517Cys)
n.1820G>C
n.301G>C
c.2265G>C (p.Trp755Cys)
c.1680G>C (p.Trp560Cys)
9g.72805492G=CA1855113580TMC1c.1677G= (p.Trp559=)
c.1239G= (p.Trp413=)
c.1551G= (p.Trp517=)
n.1820G=
n.301G=
c.2265G= (p.Trp755=)
c.1680G= (p.Trp560=)
9g.72805492G>TCA373667744TMC1c.1677G>T (p.Trp559Cys)
c.1239G>T (p.Trp413Cys)
c.1551G>T (p.Trp517Cys)
n.1820G>T
n.301G>T
c.2265G>T (p.Trp755Cys)
c.1680G>T (p.Trp560Cys)
 gnomAD v3 gnomAD v4
9g.72805495_72805507delCA1125391096TMC1c.1680_1692del (p.Leu561IlefsTer16)
c.1242_1254del (p.Leu415IlefsTer16)
c.1242_1254del (p.Leu415IlefsTer?)
c.1554_1566del (p.Leu519IlefsTer16)
n.1823_1835del
n.304_316del
c.2268_2280del (p.Leu757IlefsTer16)
c.1683_1695del (p.Leu562IlefsTer16)
 dbSNP gnomAD v3 gnomAD v4
9g.72805493G>ACA5082010TMC1c.1678G>A (p.Asp560Asn)
c.1240G>A (p.Asp414Asn)
c.1552G>A (p.Asp518Asn)
n.1821G>A
n.302G>A
c.2266G>A (p.Asp756Asn)
c.1681G>A (p.Asp561Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.72805493G>CCA373667746TMC1c.1678G>C (p.Asp560His)
c.1240G>C (p.Asp414His)
c.1552G>C (p.Asp518His)
n.1821G>C
n.302G>C
c.2266G>C (p.Asp756His)
c.1681G>C (p.Asp561His)
9g.72805493G=CA1855113581TMC1c.1678G= (p.Asp560=)
c.1240G= (p.Asp414=)
c.1552G= (p.Asp518=)
n.1821G=
n.302G=
c.2266G= (p.Asp756=)
c.1681G= (p.Asp561=)
9g.72805493G>TCA373667747TMC1c.1678G>T (p.Asp560Tyr)
c.1240G>T (p.Asp414Tyr)
c.1552G>T (p.Asp518Tyr)
n.1821G>T
n.302G>T
c.2266G>T (p.Asp756Tyr)
c.1681G>T (p.Asp561Tyr)
9g.72805494A=CA1855113582TMC1c.1679A= (p.Asp560=)
c.1241A= (p.Asp414=)
c.1553A= (p.Asp518=)
n.1822A=
n.303A=
c.2267A= (p.Asp756=)
c.1682A= (p.Asp561=)
9g.72805494A>CCA373667748TMC1c.1679A>C (p.Asp560Ala)
c.1241A>C (p.Asp414Ala)
c.1553A>C (p.Asp518Ala)
n.1822A>C
n.303A>C
c.2267A>C (p.Asp756Ala)
c.1682A>C (p.Asp561Ala)
9g.72805494A>GCA373667749TMC1c.1679A>G (p.Asp560Gly)
c.1241A>G (p.Asp414Gly)
c.1553A>G (p.Asp518Gly)
n.1822A>G
n.303A>G
c.2267A>G (p.Asp756Gly)
c.1682A>G (p.Asp561Gly)
 dbSNP
9g.72805494A>TCA5082011TMC1c.1679A>T (p.Asp560Val)
c.1241A>T (p.Asp414Val)
c.1553A>T (p.Asp518Val)
n.1822A>T
n.303A>T
c.2267A>T (p.Asp756Val)
c.1682A>T (p.Asp561Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.72805495C>ACA373667750TMC1c.1680C>A (p.Asp560Glu)
c.1242C>A (p.Asp414Glu)
c.1554C>A (p.Asp518Glu)
n.1823C>A
n.304C>A
c.2268C>A (p.Asp756Glu)
c.1683C>A (p.Asp561Glu)
9g.72805495C=CA1855113583TMC1c.1680C= (p.Asp560=)
c.1242C= (p.Asp414=)
c.1554C= (p.Asp518=)
n.1823C=
n.304C=
c.2268C= (p.Asp756=)
c.1683C= (p.Asp561=)
9g.72805495C>GCA373667751TMC1c.1680C>G (p.Asp560Glu)
c.1242C>G (p.Asp414Glu)
c.1554C>G (p.Asp518Glu)
n.1823C>G
n.304C>G
c.2268C>G (p.Asp756Glu)
c.1683C>G (p.Asp561Glu)
9g.72805495C>TCA5082012TMC1c.1680C>T (p.Asp560=)
c.1242C>T (p.Asp414=)
c.1554C>T (p.Asp518=)
n.1823C>T
n.304C>T
c.2268C>T (p.Asp756=)
c.1683C>T (p.Asp561=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.72805495_72805506delinsCTTGGAGTATGGCA1855113584TMC1c.1680_1691delinsCTTGGAGTATGG (p.Asp560=)
c.1242_1253delinsCTTGGAGTATGG (p.Asp414=)
c.1554_1565delinsCTTGGAGTATGG (p.Asp518=)
n.1823_1834delinsCTTGGAGTATGG
n.304_315delinsCTTGGAGTATGG
c.2268_2279delinsCTTGGAGTATGG (p.Asp756=)
c.1683_1694delinsCTTGGAGTATGG (p.Asp561=)
9g.72805496T>ACA373667752TMC1c.1681T>A (p.Leu561Met)
c.1243T>A (p.Leu415Met)
c.1555T>A (p.Leu519Met)
n.1824T>A
n.305T>A
c.2269T>A (p.Leu757Met)
c.1684T>A (p.Leu562Met)
 gnomAD v4
9g.72805496T>CCA193290465TMC1c.1681T>C (p.Leu561=)
c.1243T>C (p.Leu415=)
c.1555T>C (p.Leu519=)
n.1824T>C
n.305T>C
c.2269T>C (p.Leu757=)
c.1684T>C (p.Leu562=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.72805496T>GCA373667753TMC1c.1681T>G (p.Leu561Val)
c.1243T>G (p.Leu415Val)
c.1555T>G (p.Leu519Val)
n.1824T>G
n.305T>G
c.2269T>G (p.Leu757Val)
c.1684T>G (p.Leu562Val)
9g.72805496T=CA1855113585TMC1c.1681T= (p.Leu561=)
c.1243T= (p.Leu415=)
c.1555T= (p.Leu519=)
n.1824T=
n.305T=
c.2269T= (p.Leu757=)
c.1684T= (p.Leu562=)
9g.72805496_72805506delCA588439393TMC1c.1681_1691del (p.Leu561IlefsTer?)
c.1243_1253del (p.Leu415IlefsTer?)
c.1243_1253del (p.Leu415IlefsTer27)
c.1555_1565del (p.Leu519IlefsTer?)
n.1824_1834del
n.305_315del
c.2269_2279del (p.Leu757IlefsTer?)
c.1684_1694del (p.Leu562IlefsTer?)
 dbSNP gnomAD v2 gnomAD v4
9g.72805497T>ACA373667756TMC1c.1682T>A (p.Leu561Ter)
c.1244T>A (p.Leu415Ter)
c.1556T>A (p.Leu519Ter)
n.1825T>A
n.306T>A
c.2270T>A (p.Leu757Ter)
c.1685T>A (p.Leu562Ter)
9g.72805497T>CCA373667755TMC1c.1682T>C (p.Leu561Ser)
c.1244T>C (p.Leu415Ser)
c.1556T>C (p.Leu519Ser)
n.1825T>C
n.306T>C
c.2270T>C (p.Leu757Ser)
c.1685T>C (p.Leu562Ser)
9g.72805497T>GCA373667754TMC1c.1682T>G (p.Leu561Trp)
c.1244T>G (p.Leu415Trp)
c.1556T>G (p.Leu519Trp)
n.1825T>G
n.306T>G
c.2270T>G (p.Leu757Trp)
c.1685T>G (p.Leu562Trp)
 dbSNP gnomAD v4
9g.72805497T=CA1855113586TMC1c.1682T= (p.Leu561=)
c.1244T= (p.Leu415=)
c.1556T= (p.Leu519=)
n.1825T=
n.306T=
c.2270T= (p.Leu757=)
c.1685T= (p.Leu562=)
9g.72805498G>ACA465185840TMC1c.1683G>A (p.Leu561=)
c.1245G>A (p.Leu415=)
c.1557G>A (p.Leu519=)
n.1826G>A
n.307G>A
c.2271G>A (p.Leu757=)
c.1686G>A (p.Leu562=)
9g.72805498G>CCA373667757TMC1c.1683G>C (p.Leu561Phe)
c.1245G>C (p.Leu415Phe)
c.1557G>C (p.Leu519Phe)
n.1826G>C
n.307G>C
c.2271G>C (p.Leu757Phe)
c.1686G>C (p.Leu562Phe)
9g.72805498G>TCA373667758TMC1c.1683G>T (p.Leu561Phe)
c.1245G>T (p.Leu415Phe)
c.1557G>T (p.Leu519Phe)
n.1826G>T
n.307G>T
c.2271G>T (p.Leu757Phe)
c.1686G>T (p.Leu562Phe)
9g.72805499G>ACA373667759TMC1c.1684G>A (p.Glu562Lys)
c.1246G>A (p.Glu416Lys)
c.1558G>A (p.Glu520Lys)
n.1827G>A
n.308G>A
c.2272G>A (p.Glu758Lys)
c.1687G>A (p.Glu563Lys)
 dbSNP gnomAD v2 gnomAD v4
9g.72805499G>CCA373667761TMC1c.1684G>C (p.Glu562Gln)
c.1246G>C (p.Glu416Gln)
c.1558G>C (p.Glu520Gln)
n.1827G>C
n.308G>C
c.2272G>C (p.Glu758Gln)
c.1687G>C (p.Glu563Gln)
 dbSNP gnomAD v3 gnomAD v4
9g.72805499G=CA1855113587TMC1c.1684G= (p.Glu562=)
c.1246G= (p.Glu416=)
c.1558G= (p.Glu520=)
n.1827G=
n.308G=
c.2272G= (p.Glu758=)
c.1687G= (p.Glu563=)
9g.72805499G>TCA373667760TMC1c.1684G>T (p.Glu562Ter)
c.1246G>T (p.Glu416Ter)
c.1558G>T (p.Glu520Ter)
n.1827G>T
n.308G>T
c.2272G>T (p.Glu758Ter)
c.1687G>T (p.Glu563Ter)

Number of alleles fetched