Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.243426437G>A | CA345667658 | SDCCAG8 | c.1864G>A (p.Ala622Thr) c.967G>A (p.Ala323Thr) n.71G>A c.1735G>A (p.Ala579Thr) c.1441G>A (p.Ala481Thr) c.961G>A (p.Ala321Thr) c.943G>A (p.Ala315Thr) c.1894G>A (p.Ala632Thr) c.1765G>A (p.Ala589Thr) c.1705G>A (p.Ala569Thr) c.1990G>A (p.Ala664Thr) c.1960G>A (p.Ala654Thr) c.1801G>A (p.Ala601Thr) c.1753G>A (p.Ala585Thr) c.1576G>A (p.Ala526Thr) c.1528G>A (p.Ala510Thr) c.919G>A (p.Ala307Thr) n.2014G>A c.1570G>A (p.Ala524Thr) c.1627G>A (p.Ala543Thr) c.1666G>A (p.Ala556Thr) c.1333G>A (p.Ala445Thr) n.1906G>A n.1797G>A | |
1 | g.243426437G>C | CA345667659 | SDCCAG8 | c.1864G>C (p.Ala622Pro) c.967G>C (p.Ala323Pro) n.71G>C c.1735G>C (p.Ala579Pro) c.1441G>C (p.Ala481Pro) c.961G>C (p.Ala321Pro) c.943G>C (p.Ala315Pro) c.1894G>C (p.Ala632Pro) c.1765G>C (p.Ala589Pro) c.1705G>C (p.Ala569Pro) c.1990G>C (p.Ala664Pro) c.1960G>C (p.Ala654Pro) c.1801G>C (p.Ala601Pro) c.1753G>C (p.Ala585Pro) c.1576G>C (p.Ala526Pro) c.1528G>C (p.Ala510Pro) c.919G>C (p.Ala307Pro) n.2014G>C c.1570G>C (p.Ala524Pro) c.1627G>C (p.Ala543Pro) c.1666G>C (p.Ala556Pro) c.1333G>C (p.Ala445Pro) n.1906G>C n.1797G>C | |
1 | g.243426437G>T | CA345667660 | SDCCAG8 | c.1864G>T (p.Ala622Ser) c.967G>T (p.Ala323Ser) n.71G>T c.1735G>T (p.Ala579Ser) c.1441G>T (p.Ala481Ser) c.961G>T (p.Ala321Ser) c.943G>T (p.Ala315Ser) c.1894G>T (p.Ala632Ser) c.1765G>T (p.Ala589Ser) c.1705G>T (p.Ala569Ser) c.1990G>T (p.Ala664Ser) c.1960G>T (p.Ala654Ser) c.1801G>T (p.Ala601Ser) c.1753G>T (p.Ala585Ser) c.1576G>T (p.Ala526Ser) c.1528G>T (p.Ala510Ser) c.919G>T (p.Ala307Ser) n.2014G>T c.1570G>T (p.Ala524Ser) c.1627G>T (p.Ala543Ser) c.1666G>T (p.Ala556Ser) c.1333G>T (p.Ala445Ser) n.1906G>T n.1797G>T | |
1 | g.243426438C>A | CA345667661 | SDCCAG8 | c.1865C>A (p.Ala622Asp) c.968C>A (p.Ala323Asp) n.72C>A c.1736C>A (p.Ala579Asp) c.1442C>A (p.Ala481Asp) c.962C>A (p.Ala321Asp) c.944C>A (p.Ala315Asp) c.1895C>A (p.Ala632Asp) c.1766C>A (p.Ala589Asp) c.1706C>A (p.Ala569Asp) c.1991C>A (p.Ala664Asp) c.1961C>A (p.Ala654Asp) c.1802C>A (p.Ala601Asp) c.1754C>A (p.Ala585Asp) c.1577C>A (p.Ala526Asp) c.1529C>A (p.Ala510Asp) c.920C>A (p.Ala307Asp) n.2015C>A c.1571C>A (p.Ala524Asp) c.1628C>A (p.Ala543Asp) c.1667C>A (p.Ala556Asp) c.1334C>A (p.Ala445Asp) n.1907C>A n.1798C>A | |
1 | g.243426438C= | CA1230390589 | SDCCAG8 | c.1865C= (p.Ala622=) c.968C= (p.Ala323=) n.72C= c.1736C= (p.Ala579=) c.1442C= (p.Ala481=) c.962C= (p.Ala321=) c.944C= (p.Ala315=) c.1895C= (p.Ala632=) c.1766C= (p.Ala589=) c.1706C= (p.Ala569=) c.1991C= (p.Ala664=) c.1961C= (p.Ala654=) c.1802C= (p.Ala601=) c.1754C= (p.Ala585=) c.1577C= (p.Ala526=) c.1529C= (p.Ala510=) c.920C= (p.Ala307=) n.2015C= c.1571C= (p.Ala524=) c.1628C= (p.Ala543=) c.1667C= (p.Ala556=) c.1334C= (p.Ala445=) n.1907C= n.1798C= | |
1 | g.243426438C>G | CA345667662 | SDCCAG8 | c.1865C>G (p.Ala622Gly) c.968C>G (p.Ala323Gly) n.72C>G c.1736C>G (p.Ala579Gly) c.1442C>G (p.Ala481Gly) c.962C>G (p.Ala321Gly) c.944C>G (p.Ala315Gly) c.1895C>G (p.Ala632Gly) c.1766C>G (p.Ala589Gly) c.1706C>G (p.Ala569Gly) c.1991C>G (p.Ala664Gly) c.1961C>G (p.Ala654Gly) c.1802C>G (p.Ala601Gly) c.1754C>G (p.Ala585Gly) c.1577C>G (p.Ala526Gly) c.1529C>G (p.Ala510Gly) c.920C>G (p.Ala307Gly) n.2015C>G c.1571C>G (p.Ala524Gly) c.1628C>G (p.Ala543Gly) c.1667C>G (p.Ala556Gly) c.1334C>G (p.Ala445Gly) n.1907C>G n.1798C>G | |
1 | g.243426438C>T | CA1483764 | SDCCAG8 | c.1865C>T (p.Ala622Val) c.968C>T (p.Ala323Val) n.72C>T c.1736C>T (p.Ala579Val) c.1442C>T (p.Ala481Val) c.962C>T (p.Ala321Val) c.944C>T (p.Ala315Val) c.1895C>T (p.Ala632Val) c.1766C>T (p.Ala589Val) c.1706C>T (p.Ala569Val) c.1991C>T (p.Ala664Val) c.1961C>T (p.Ala654Val) c.1802C>T (p.Ala601Val) c.1754C>T (p.Ala585Val) c.1577C>T (p.Ala526Val) c.1529C>T (p.Ala510Val) c.920C>T (p.Ala307Val) n.2015C>T c.1571C>T (p.Ala524Val) c.1628C>T (p.Ala543Val) c.1667C>T (p.Ala556Val) c.1334C>T (p.Ala445Val) n.1907C>T n.1798C>T | dbSNP ExAC gnomAD v2 |
1 | g.243426439T>A | CA424346847 | SDCCAG8 | c.1866T>A (p.Ala622=) c.969T>A (p.Ala323=) n.73T>A c.1737T>A (p.Ala579=) c.1443T>A (p.Ala481=) c.963T>A (p.Ala321=) c.945T>A (p.Ala315=) c.1896T>A (p.Ala632=) c.1767T>A (p.Ala589=) c.1707T>A (p.Ala569=) c.1992T>A (p.Ala664=) c.1962T>A (p.Ala654=) c.1803T>A (p.Ala601=) c.1755T>A (p.Ala585=) c.1578T>A (p.Ala526=) c.1530T>A (p.Ala510=) c.921T>A (p.Ala307=) n.2016T>A c.1572T>A (p.Ala524=) c.1629T>A (p.Ala543=) c.1668T>A (p.Ala556=) c.1335T>A (p.Ala445=) n.1908T>A n.1799T>A | |
1 | g.243426439T>C | CA424346846 | SDCCAG8 | c.1866T>C (p.Ala622=) c.969T>C (p.Ala323=) n.73T>C c.1737T>C (p.Ala579=) c.1443T>C (p.Ala481=) c.963T>C (p.Ala321=) c.945T>C (p.Ala315=) c.1896T>C (p.Ala632=) c.1767T>C (p.Ala589=) c.1707T>C (p.Ala569=) c.1992T>C (p.Ala664=) c.1962T>C (p.Ala654=) c.1803T>C (p.Ala601=) c.1755T>C (p.Ala585=) c.1578T>C (p.Ala526=) c.1530T>C (p.Ala510=) c.921T>C (p.Ala307=) n.2016T>C c.1572T>C (p.Ala524=) c.1629T>C (p.Ala543=) c.1668T>C (p.Ala556=) c.1335T>C (p.Ala445=) n.1908T>C n.1799T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.243426439T>G | CA424346845 | SDCCAG8 | c.1866T>G (p.Ala622=) c.969T>G (p.Ala323=) n.73T>G c.1737T>G (p.Ala579=) c.1443T>G (p.Ala481=) c.963T>G (p.Ala321=) c.945T>G (p.Ala315=) c.1896T>G (p.Ala632=) c.1767T>G (p.Ala589=) c.1707T>G (p.Ala569=) c.1992T>G (p.Ala664=) c.1962T>G (p.Ala654=) c.1803T>G (p.Ala601=) c.1755T>G (p.Ala585=) c.1578T>G (p.Ala526=) c.1530T>G (p.Ala510=) c.921T>G (p.Ala307=) n.2016T>G c.1572T>G (p.Ala524=) c.1629T>G (p.Ala543=) c.1668T>G (p.Ala556=) c.1335T>G (p.Ala445=) n.1908T>G n.1799T>G | |
1 | g.243426439T= | CA1230390590 | SDCCAG8 | c.1866T= (p.Ala622=) c.969T= (p.Ala323=) n.73T= c.1737T= (p.Ala579=) c.1443T= (p.Ala481=) c.963T= (p.Ala321=) c.945T= (p.Ala315=) c.1896T= (p.Ala632=) c.1767T= (p.Ala589=) c.1707T= (p.Ala569=) c.1992T= (p.Ala664=) c.1962T= (p.Ala654=) c.1803T= (p.Ala601=) c.1755T= (p.Ala585=) c.1578T= (p.Ala526=) c.1530T= (p.Ala510=) c.921T= (p.Ala307=) n.2016T= c.1572T= (p.Ala524=) c.1629T= (p.Ala543=) c.1668T= (p.Ala556=) c.1335T= (p.Ala445=) n.1908T= n.1799T= | |
1 | g.243426440C>A | CA345667663 | SDCCAG8 | c.1867C>A (p.Gln623Lys) c.970C>A (p.Gln324Lys) n.74C>A c.1738C>A (p.Gln580Lys) c.1444C>A (p.Gln482Lys) c.964C>A (p.Gln322Lys) c.946C>A (p.Gln316Lys) c.1897C>A (p.Gln633Lys) c.1768C>A (p.Gln590Lys) c.1708C>A (p.Gln570Lys) c.1993C>A (p.Gln665Lys) c.1963C>A (p.Gln655Lys) c.1804C>A (p.Gln602Lys) c.1756C>A (p.Gln586Lys) c.1579C>A (p.Gln527Lys) c.1531C>A (p.Gln511Lys) c.922C>A (p.Gln308Lys) n.2017C>A c.1573C>A (p.Gln525Lys) c.1630C>A (p.Gln544Lys) c.1669C>A (p.Gln557Lys) c.1336C>A (p.Gln446Lys) n.1909C>A n.1800C>A | |
1 | g.243426440C>G | CA345667664 | SDCCAG8 | c.1867C>G (p.Gln623Glu) c.970C>G (p.Gln324Glu) n.74C>G c.1738C>G (p.Gln580Glu) c.1444C>G (p.Gln482Glu) c.964C>G (p.Gln322Glu) c.946C>G (p.Gln316Glu) c.1897C>G (p.Gln633Glu) c.1768C>G (p.Gln590Glu) c.1708C>G (p.Gln570Glu) c.1993C>G (p.Gln665Glu) c.1963C>G (p.Gln655Glu) c.1804C>G (p.Gln602Glu) c.1756C>G (p.Gln586Glu) c.1579C>G (p.Gln527Glu) c.1531C>G (p.Gln511Glu) c.922C>G (p.Gln308Glu) n.2017C>G c.1573C>G (p.Gln525Glu) c.1630C>G (p.Gln544Glu) c.1669C>G (p.Gln557Glu) c.1336C>G (p.Gln446Glu) n.1909C>G n.1800C>G | |
1 | g.243426440C>T | CA345667665 | SDCCAG8 | c.1867C>T (p.Gln623Ter) c.970C>T (p.Gln324Ter) n.74C>T c.1738C>T (p.Gln580Ter) c.1444C>T (p.Gln482Ter) c.964C>T (p.Gln322Ter) c.946C>T (p.Gln316Ter) c.1897C>T (p.Gln633Ter) c.1768C>T (p.Gln590Ter) c.1708C>T (p.Gln570Ter) c.1993C>T (p.Gln665Ter) c.1963C>T (p.Gln655Ter) c.1804C>T (p.Gln602Ter) c.1756C>T (p.Gln586Ter) c.1579C>T (p.Gln527Ter) c.1531C>T (p.Gln511Ter) c.922C>T (p.Gln308Ter) n.2017C>T c.1573C>T (p.Gln525Ter) c.1630C>T (p.Gln544Ter) c.1669C>T (p.Gln557Ter) c.1336C>T (p.Gln446Ter) n.1909C>T n.1800C>T | |
1 | g.243426441A= | CA1230390591 | SDCCAG8 | c.1868A= (p.Gln623=) c.971A= (p.Gln324=) n.75A= c.1739A= (p.Gln580=) c.1445A= (p.Gln482=) c.965A= (p.Gln322=) c.947A= (p.Gln316=) c.1898A= (p.Gln633=) c.1769A= (p.Gln590=) c.1709A= (p.Gln570=) c.1994A= (p.Gln665=) c.1964A= (p.Gln655=) c.1805A= (p.Gln602=) c.1757A= (p.Gln586=) c.1580A= (p.Gln527=) c.1532A= (p.Gln511=) c.923A= (p.Gln308=) n.2018A= c.1574A= (p.Gln525=) c.1631A= (p.Gln544=) c.1670A= (p.Gln557=) c.1337A= (p.Gln446=) n.1910A= n.1801A= | |
1 | g.243426441A>C | CA345667667 | SDCCAG8 | c.1868A>C (p.Gln623Pro) c.971A>C (p.Gln324Pro) n.75A>C c.1739A>C (p.Gln580Pro) c.1445A>C (p.Gln482Pro) c.965A>C (p.Gln322Pro) c.947A>C (p.Gln316Pro) c.1898A>C (p.Gln633Pro) c.1769A>C (p.Gln590Pro) c.1709A>C (p.Gln570Pro) c.1994A>C (p.Gln665Pro) c.1964A>C (p.Gln655Pro) c.1805A>C (p.Gln602Pro) c.1757A>C (p.Gln586Pro) c.1580A>C (p.Gln527Pro) c.1532A>C (p.Gln511Pro) c.923A>C (p.Gln308Pro) n.2018A>C c.1574A>C (p.Gln525Pro) c.1631A>C (p.Gln544Pro) c.1670A>C (p.Gln557Pro) c.1337A>C (p.Gln446Pro) n.1910A>C n.1801A>C | |
1 | g.243426441A>G | CA1483765 | SDCCAG8 | c.1868A>G (p.Gln623Arg) c.971A>G (p.Gln324Arg) n.75A>G c.1739A>G (p.Gln580Arg) c.1445A>G (p.Gln482Arg) c.965A>G (p.Gln322Arg) c.947A>G (p.Gln316Arg) c.1898A>G (p.Gln633Arg) c.1769A>G (p.Gln590Arg) c.1709A>G (p.Gln570Arg) c.1994A>G (p.Gln665Arg) c.1964A>G (p.Gln655Arg) c.1805A>G (p.Gln602Arg) c.1757A>G (p.Gln586Arg) c.1580A>G (p.Gln527Arg) c.1532A>G (p.Gln511Arg) c.923A>G (p.Gln308Arg) n.2018A>G c.1574A>G (p.Gln525Arg) c.1631A>G (p.Gln544Arg) c.1670A>G (p.Gln557Arg) c.1337A>G (p.Gln446Arg) n.1910A>G n.1801A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.243426441A>T | CA345667666 | SDCCAG8 | c.1868A>T (p.Gln623Leu) c.971A>T (p.Gln324Leu) n.75A>T c.1739A>T (p.Gln580Leu) c.1445A>T (p.Gln482Leu) c.965A>T (p.Gln322Leu) c.947A>T (p.Gln316Leu) c.1898A>T (p.Gln633Leu) c.1769A>T (p.Gln590Leu) c.1709A>T (p.Gln570Leu) c.1994A>T (p.Gln665Leu) c.1964A>T (p.Gln655Leu) c.1805A>T (p.Gln602Leu) c.1757A>T (p.Gln586Leu) c.1580A>T (p.Gln527Leu) c.1532A>T (p.Gln511Leu) c.923A>T (p.Gln308Leu) n.2018A>T c.1574A>T (p.Gln525Leu) c.1631A>T (p.Gln544Leu) c.1670A>T (p.Gln557Leu) c.1337A>T (p.Gln446Leu) n.1910A>T n.1801A>T | |
1 | g.243426442A>C | CA345667669 | SDCCAG8 | c.1869A>C (p.Gln623His) c.972A>C (p.Gln324His) n.76A>C c.1740A>C (p.Gln580His) c.1446A>C (p.Gln482His) c.966A>C (p.Gln322His) c.948A>C (p.Gln316His) c.1899A>C (p.Gln633His) c.1770A>C (p.Gln590His) c.1710A>C (p.Gln570His) c.1995A>C (p.Gln665His) c.1965A>C (p.Gln655His) c.1806A>C (p.Gln602His) c.1758A>C (p.Gln586His) c.1581A>C (p.Gln527His) c.1533A>C (p.Gln511His) c.924A>C (p.Gln308His) n.2019A>C c.1575A>C (p.Gln525His) c.1632A>C (p.Gln544His) c.1671A>C (p.Gln557His) c.1338A>C (p.Gln446His) n.1911A>C n.1802A>C | |
1 | g.243426442A>G | CA424346848 | SDCCAG8 | c.1869A>G (p.Gln623=) c.972A>G (p.Gln324=) n.76A>G c.1740A>G (p.Gln580=) c.1446A>G (p.Gln482=) c.966A>G (p.Gln322=) c.948A>G (p.Gln316=) c.1899A>G (p.Gln633=) c.1770A>G (p.Gln590=) c.1710A>G (p.Gln570=) c.1995A>G (p.Gln665=) c.1965A>G (p.Gln655=) c.1806A>G (p.Gln602=) c.1758A>G (p.Gln586=) c.1581A>G (p.Gln527=) c.1533A>G (p.Gln511=) c.924A>G (p.Gln308=) n.2019A>G c.1575A>G (p.Gln525=) c.1632A>G (p.Gln544=) c.1671A>G (p.Gln557=) c.1338A>G (p.Gln446=) n.1911A>G n.1802A>G | |
1 | g.243426442A>T | CA345667668 | SDCCAG8 | c.1869A>T (p.Gln623His) c.972A>T (p.Gln324His) n.76A>T c.1740A>T (p.Gln580His) c.1446A>T (p.Gln482His) c.966A>T (p.Gln322His) c.948A>T (p.Gln316His) c.1899A>T (p.Gln633His) c.1770A>T (p.Gln590His) c.1710A>T (p.Gln570His) c.1995A>T (p.Gln665His) c.1965A>T (p.Gln655His) c.1806A>T (p.Gln602His) c.1758A>T (p.Gln586His) c.1581A>T (p.Gln527His) c.1533A>T (p.Gln511His) c.924A>T (p.Gln308His) n.2019A>T c.1575A>T (p.Gln525His) c.1632A>T (p.Gln544His) c.1671A>T (p.Gln557His) c.1338A>T (p.Gln446His) n.1911A>T n.1802A>T | |
1 | g.243426443C>A | CA345667670 | SDCCAG8 | c.1870C>A (p.Leu624Ile) c.973C>A (p.Leu325Ile) n.77C>A c.1741C>A (p.Leu581Ile) c.1447C>A (p.Leu483Ile) c.967C>A (p.Leu323Ile) c.949C>A (p.Leu317Ile) c.1900C>A (p.Leu634Ile) c.1771C>A (p.Leu591Ile) c.1711C>A (p.Leu571Ile) c.1996C>A (p.Leu666Ile) c.1966C>A (p.Leu656Ile) c.1807C>A (p.Leu603Ile) c.1759C>A (p.Leu587Ile) c.1582C>A (p.Leu528Ile) c.1534C>A (p.Leu512Ile) c.925C>A (p.Leu309Ile) n.2020C>A c.1576C>A (p.Leu526Ile) c.1633C>A (p.Leu545Ile) c.1672C>A (p.Leu558Ile) c.1339C>A (p.Leu447Ile) n.1912C>A n.1803C>A | |
1 | g.243426443C>G | CA345667671 | SDCCAG8 | c.1870C>G (p.Leu624Val) c.973C>G (p.Leu325Val) n.77C>G c.1741C>G (p.Leu581Val) c.1447C>G (p.Leu483Val) c.967C>G (p.Leu323Val) c.949C>G (p.Leu317Val) c.1900C>G (p.Leu634Val) c.1771C>G (p.Leu591Val) c.1711C>G (p.Leu571Val) c.1996C>G (p.Leu666Val) c.1966C>G (p.Leu656Val) c.1807C>G (p.Leu603Val) c.1759C>G (p.Leu587Val) c.1582C>G (p.Leu528Val) c.1534C>G (p.Leu512Val) c.925C>G (p.Leu309Val) n.2020C>G c.1576C>G (p.Leu526Val) c.1633C>G (p.Leu545Val) c.1672C>G (p.Leu558Val) c.1339C>G (p.Leu447Val) n.1912C>G n.1803C>G | |
1 | g.243426443C>T | CA345667672 | SDCCAG8 | c.1870C>T (p.Leu624Phe) c.973C>T (p.Leu325Phe) n.77C>T c.1741C>T (p.Leu581Phe) c.1447C>T (p.Leu483Phe) c.967C>T (p.Leu323Phe) c.949C>T (p.Leu317Phe) c.1900C>T (p.Leu634Phe) c.1771C>T (p.Leu591Phe) c.1711C>T (p.Leu571Phe) c.1996C>T (p.Leu666Phe) c.1966C>T (p.Leu656Phe) c.1807C>T (p.Leu603Phe) c.1759C>T (p.Leu587Phe) c.1582C>T (p.Leu528Phe) c.1534C>T (p.Leu512Phe) c.925C>T (p.Leu309Phe) n.2020C>T c.1576C>T (p.Leu526Phe) c.1633C>T (p.Leu545Phe) c.1672C>T (p.Leu558Phe) c.1339C>T (p.Leu447Phe) n.1912C>T n.1803C>T | |
1 | g.243426444T>A | CA345667673 | SDCCAG8 | c.1871T>A (p.Leu624His) c.974T>A (p.Leu325His) n.78T>A c.1742T>A (p.Leu581His) c.1448T>A (p.Leu483His) c.968T>A (p.Leu323His) c.950T>A (p.Leu317His) c.1901T>A (p.Leu634His) c.1772T>A (p.Leu591His) c.1712T>A (p.Leu571His) c.1997T>A (p.Leu666His) c.1967T>A (p.Leu656His) c.1808T>A (p.Leu603His) c.1760T>A (p.Leu587His) c.1583T>A (p.Leu528His) c.1535T>A (p.Leu512His) c.926T>A (p.Leu309His) n.2021T>A c.1577T>A (p.Leu526His) c.1634T>A (p.Leu545His) c.1673T>A (p.Leu558His) c.1340T>A (p.Leu447His) n.1913T>A n.1804T>A | |
1 | g.243426444T>C | CA345667674 | SDCCAG8 | c.1871T>C (p.Leu624Pro) c.974T>C (p.Leu325Pro) n.78T>C c.1742T>C (p.Leu581Pro) c.1448T>C (p.Leu483Pro) c.968T>C (p.Leu323Pro) c.950T>C (p.Leu317Pro) c.1901T>C (p.Leu634Pro) c.1772T>C (p.Leu591Pro) c.1712T>C (p.Leu571Pro) c.1997T>C (p.Leu666Pro) c.1967T>C (p.Leu656Pro) c.1808T>C (p.Leu603Pro) c.1760T>C (p.Leu587Pro) c.1583T>C (p.Leu528Pro) c.1535T>C (p.Leu512Pro) c.926T>C (p.Leu309Pro) n.2021T>C c.1577T>C (p.Leu526Pro) c.1634T>C (p.Leu545Pro) c.1673T>C (p.Leu558Pro) c.1340T>C (p.Leu447Pro) n.1913T>C n.1804T>C | |
1 | g.243426444T>G | CA345667675 | SDCCAG8 | c.1871T>G (p.Leu624Arg) c.974T>G (p.Leu325Arg) n.78T>G c.1742T>G (p.Leu581Arg) c.1448T>G (p.Leu483Arg) c.968T>G (p.Leu323Arg) c.950T>G (p.Leu317Arg) c.1901T>G (p.Leu634Arg) c.1772T>G (p.Leu591Arg) c.1712T>G (p.Leu571Arg) c.1997T>G (p.Leu666Arg) c.1967T>G (p.Leu656Arg) c.1808T>G (p.Leu603Arg) c.1760T>G (p.Leu587Arg) c.1583T>G (p.Leu528Arg) c.1535T>G (p.Leu512Arg) c.926T>G (p.Leu309Arg) n.2021T>G c.1577T>G (p.Leu526Arg) c.1634T>G (p.Leu545Arg) c.1673T>G (p.Leu558Arg) c.1340T>G (p.Leu447Arg) n.1913T>G n.1804T>G | |
1 | g.243426445del | CA1139771910 | SDCCAG8 | c.1872del (p.Ser625ValfsTer?) c.975del (p.Ser326ValfsTer?) n.79del c.1743del (p.Ser582ValfsTer?) c.1449del (p.Ser484ValfsTer?) c.969del (p.Ser324ValfsTer?) c.951del (p.Ser318ValfsTer?) c.1902del (p.Ser635ValfsTer?) c.1773del (p.Ser592ValfsTer?) c.1713del (p.Ser572ValfsTer?) c.1998del (p.Ser667ValfsTer?) c.1968del (p.Ser657ValfsTer?) c.1809del (p.Ser604ValfsTer?) c.1761del (p.Ser588ValfsTer?) c.1584del (p.Ser529ValfsTer?) c.1536del (p.Ser513ValfsTer?) c.927del (p.Ser310ValfsTer?) n.2022del c.1578del (p.Ser527ValfsTer?) c.1635del (p.Ser546ValfsTer?) c.1674del (p.Ser559ValfsTer?) c.1341del (p.Ser448ValfsTer?) n.1914del n.1805del | |
1 | g.243426445C>A | CA424346849 | SDCCAG8 | c.1872C>A (p.Leu624=) c.975C>A (p.Leu325=) n.79C>A c.1743C>A (p.Leu581=) c.1449C>A (p.Leu483=) c.969C>A (p.Leu323=) c.951C>A (p.Leu317=) c.1902C>A (p.Leu634=) c.1773C>A (p.Leu591=) c.1713C>A (p.Leu571=) c.1998C>A (p.Leu666=) c.1968C>A (p.Leu656=) c.1809C>A (p.Leu603=) c.1761C>A (p.Leu587=) c.1584C>A (p.Leu528=) c.1536C>A (p.Leu512=) c.927C>A (p.Leu309=) n.2022C>A c.1578C>A (p.Leu526=) c.1635C>A (p.Leu545=) c.1674C>A (p.Leu558=) c.1341C>A (p.Leu447=) n.1914C>A n.1805C>A | |
1 | g.243426445C>G | CA424346850 | SDCCAG8 | c.1872C>G (p.Leu624=) c.975C>G (p.Leu325=) n.79C>G c.1743C>G (p.Leu581=) c.1449C>G (p.Leu483=) c.969C>G (p.Leu323=) c.951C>G (p.Leu317=) c.1902C>G (p.Leu634=) c.1773C>G (p.Leu591=) c.1713C>G (p.Leu571=) c.1998C>G (p.Leu666=) c.1968C>G (p.Leu656=) c.1809C>G (p.Leu603=) c.1761C>G (p.Leu587=) c.1584C>G (p.Leu528=) c.1536C>G (p.Leu512=) c.927C>G (p.Leu309=) n.2022C>G c.1578C>G (p.Leu526=) c.1635C>G (p.Leu545=) c.1674C>G (p.Leu558=) c.1341C>G (p.Leu447=) n.1914C>G n.1805C>G | |
1 | g.243426445C>T | CA424346851 | SDCCAG8 | c.1872C>T (p.Leu624=) c.975C>T (p.Leu325=) n.79C>T c.1743C>T (p.Leu581=) c.1449C>T (p.Leu483=) c.969C>T (p.Leu323=) c.951C>T (p.Leu317=) c.1902C>T (p.Leu634=) c.1773C>T (p.Leu591=) c.1713C>T (p.Leu571=) c.1998C>T (p.Leu666=) c.1968C>T (p.Leu656=) c.1809C>T (p.Leu603=) c.1761C>T (p.Leu587=) c.1584C>T (p.Leu528=) c.1536C>T (p.Leu512=) c.927C>T (p.Leu309=) n.2022C>T c.1578C>T (p.Leu526=) c.1635C>T (p.Leu545=) c.1674C>T (p.Leu558=) c.1341C>T (p.Leu447=) n.1914C>T n.1805C>T | |
1 | g.243426446A>C | CA345667678 | SDCCAG8 | c.1873A>C (p.Ser625Arg) c.976A>C (p.Ser326Arg) n.80A>C c.1744A>C (p.Ser582Arg) c.1450A>C (p.Ser484Arg) c.970A>C (p.Ser324Arg) c.952A>C (p.Ser318Arg) c.1903A>C (p.Ser635Arg) c.1774A>C (p.Ser592Arg) c.1714A>C (p.Ser572Arg) c.1999A>C (p.Ser667Arg) c.1969A>C (p.Ser657Arg) c.1810A>C (p.Ser604Arg) c.1762A>C (p.Ser588Arg) c.1585A>C (p.Ser529Arg) c.1537A>C (p.Ser513Arg) c.928A>C (p.Ser310Arg) n.2023A>C c.1579A>C (p.Ser527Arg) c.1636A>C (p.Ser546Arg) c.1675A>C (p.Ser559Arg) c.1342A>C (p.Ser448Arg) n.1915A>C n.1806A>C | |
1 | g.243426446A>G | CA345667676 | SDCCAG8 | c.1873A>G (p.Ser625Gly) c.976A>G (p.Ser326Gly) n.80A>G c.1744A>G (p.Ser582Gly) c.1450A>G (p.Ser484Gly) c.970A>G (p.Ser324Gly) c.952A>G (p.Ser318Gly) c.1903A>G (p.Ser635Gly) c.1774A>G (p.Ser592Gly) c.1714A>G (p.Ser572Gly) c.1999A>G (p.Ser667Gly) c.1969A>G (p.Ser657Gly) c.1810A>G (p.Ser604Gly) c.1762A>G (p.Ser588Gly) c.1585A>G (p.Ser529Gly) c.1537A>G (p.Ser513Gly) c.928A>G (p.Ser310Gly) n.2023A>G c.1579A>G (p.Ser527Gly) c.1636A>G (p.Ser546Gly) c.1675A>G (p.Ser559Gly) c.1342A>G (p.Ser448Gly) n.1915A>G n.1806A>G | |
1 | g.243426446A>T | CA345667677 | SDCCAG8 | c.1873A>T (p.Ser625Cys) c.976A>T (p.Ser326Cys) n.80A>T c.1744A>T (p.Ser582Cys) c.1450A>T (p.Ser484Cys) c.970A>T (p.Ser324Cys) c.952A>T (p.Ser318Cys) c.1903A>T (p.Ser635Cys) c.1774A>T (p.Ser592Cys) c.1714A>T (p.Ser572Cys) c.1999A>T (p.Ser667Cys) c.1969A>T (p.Ser657Cys) c.1810A>T (p.Ser604Cys) c.1762A>T (p.Ser588Cys) c.1585A>T (p.Ser529Cys) c.1537A>T (p.Ser513Cys) c.928A>T (p.Ser310Cys) n.2023A>T c.1579A>T (p.Ser527Cys) c.1636A>T (p.Ser546Cys) c.1675A>T (p.Ser559Cys) c.1342A>T (p.Ser448Cys) n.1915A>T n.1806A>T | |
1 | g.243426447G>A | CA345667679 | SDCCAG8 | c.1874G>A (p.Ser625Asn) c.977G>A (p.Ser326Asn) n.81G>A c.1745G>A (p.Ser582Asn) c.1451G>A (p.Ser484Asn) c.971G>A (p.Ser324Asn) c.953G>A (p.Ser318Asn) c.1904G>A (p.Ser635Asn) c.1775G>A (p.Ser592Asn) c.1715G>A (p.Ser572Asn) c.2000G>A (p.Ser667Asn) c.1970G>A (p.Ser657Asn) c.1811G>A (p.Ser604Asn) c.1763G>A (p.Ser588Asn) c.1586G>A (p.Ser529Asn) c.1538G>A (p.Ser513Asn) c.929G>A (p.Ser310Asn) n.2024G>A c.1580G>A (p.Ser527Asn) c.1637G>A (p.Ser546Asn) c.1676G>A (p.Ser559Asn) c.1343G>A (p.Ser448Asn) n.1916G>A n.1807G>A | dbSNP |
1 | g.243426447G>C | CA345667680 | SDCCAG8 | c.1874G>C (p.Ser625Thr) c.977G>C (p.Ser326Thr) n.81G>C c.1745G>C (p.Ser582Thr) c.1451G>C (p.Ser484Thr) c.971G>C (p.Ser324Thr) c.953G>C (p.Ser318Thr) c.1904G>C (p.Ser635Thr) c.1775G>C (p.Ser592Thr) c.1715G>C (p.Ser572Thr) c.2000G>C (p.Ser667Thr) c.1970G>C (p.Ser657Thr) c.1811G>C (p.Ser604Thr) c.1763G>C (p.Ser588Thr) c.1586G>C (p.Ser529Thr) c.1538G>C (p.Ser513Thr) c.929G>C (p.Ser310Thr) n.2024G>C c.1580G>C (p.Ser527Thr) c.1637G>C (p.Ser546Thr) c.1676G>C (p.Ser559Thr) c.1343G>C (p.Ser448Thr) n.1916G>C n.1807G>C | |
1 | g.243426447G>T | CA345667681 | SDCCAG8 | c.1874G>T (p.Ser625Ile) c.977G>T (p.Ser326Ile) n.81G>T c.1745G>T (p.Ser582Ile) c.1451G>T (p.Ser484Ile) c.971G>T (p.Ser324Ile) c.953G>T (p.Ser318Ile) c.1904G>T (p.Ser635Ile) c.1775G>T (p.Ser592Ile) c.1715G>T (p.Ser572Ile) c.2000G>T (p.Ser667Ile) c.1970G>T (p.Ser657Ile) c.1811G>T (p.Ser604Ile) c.1763G>T (p.Ser588Ile) c.1586G>T (p.Ser529Ile) c.1538G>T (p.Ser513Ile) c.929G>T (p.Ser310Ile) n.2024G>T c.1580G>T (p.Ser527Ile) c.1637G>T (p.Ser546Ile) c.1676G>T (p.Ser559Ile) c.1343G>T (p.Ser448Ile) n.1916G>T n.1807G>T | |
1 | g.243426448T>A | CA345667682 | SDCCAG8 | c.1875T>A (p.Ser625Arg) c.978T>A (p.Ser326Arg) n.82T>A c.1746T>A (p.Ser582Arg) c.1452T>A (p.Ser484Arg) c.972T>A (p.Ser324Arg) c.954T>A (p.Ser318Arg) c.1905T>A (p.Ser635Arg) c.1776T>A (p.Ser592Arg) c.1716T>A (p.Ser572Arg) c.2001T>A (p.Ser667Arg) c.1971T>A (p.Ser657Arg) c.1812T>A (p.Ser604Arg) c.1764T>A (p.Ser588Arg) c.1587T>A (p.Ser529Arg) c.1539T>A (p.Ser513Arg) c.930T>A (p.Ser310Arg) n.2025T>A c.1581T>A (p.Ser527Arg) c.1638T>A (p.Ser546Arg) c.1677T>A (p.Ser559Arg) c.1344T>A (p.Ser448Arg) n.1917T>A n.1808T>A | |
1 | g.243426448T>C | CA424346852 | SDCCAG8 | c.1875T>C (p.Ser625=) c.978T>C (p.Ser326=) n.82T>C c.1746T>C (p.Ser582=) c.1452T>C (p.Ser484=) c.972T>C (p.Ser324=) c.954T>C (p.Ser318=) c.1905T>C (p.Ser635=) c.1776T>C (p.Ser592=) c.1716T>C (p.Ser572=) c.2001T>C (p.Ser667=) c.1971T>C (p.Ser657=) c.1812T>C (p.Ser604=) c.1764T>C (p.Ser588=) c.1587T>C (p.Ser529=) c.1539T>C (p.Ser513=) c.930T>C (p.Ser310=) n.2025T>C c.1581T>C (p.Ser527=) c.1638T>C (p.Ser546=) c.1677T>C (p.Ser559=) c.1344T>C (p.Ser448=) n.1917T>C n.1808T>C | |
1 | g.243426448T>G | CA345667683 | SDCCAG8 | c.1875T>G (p.Ser625Arg) c.978T>G (p.Ser326Arg) n.82T>G c.1746T>G (p.Ser582Arg) c.1452T>G (p.Ser484Arg) c.972T>G (p.Ser324Arg) c.954T>G (p.Ser318Arg) c.1905T>G (p.Ser635Arg) c.1776T>G (p.Ser592Arg) c.1716T>G (p.Ser572Arg) c.2001T>G (p.Ser667Arg) c.1971T>G (p.Ser657Arg) c.1812T>G (p.Ser604Arg) c.1764T>G (p.Ser588Arg) c.1587T>G (p.Ser529Arg) c.1539T>G (p.Ser513Arg) c.930T>G (p.Ser310Arg) n.2025T>G c.1581T>G (p.Ser527Arg) c.1638T>G (p.Ser546Arg) c.1677T>G (p.Ser559Arg) c.1344T>G (p.Ser448Arg) n.1917T>G n.1808T>G | |
1 | g.243426449C>A | CA1483766 | SDCCAG8 | c.1876C>A (p.Gln626Lys) c.979C>A (p.Gln327Lys) n.83C>A c.1747C>A (p.Gln583Lys) c.1453C>A (p.Gln485Lys) c.973C>A (p.Gln325Lys) c.955C>A (p.Gln319Lys) c.1906C>A (p.Gln636Lys) c.1777C>A (p.Gln593Lys) c.1717C>A (p.Gln573Lys) c.2002C>A (p.Gln668Lys) c.1972C>A (p.Gln658Lys) c.1813C>A (p.Gln605Lys) c.1765C>A (p.Gln589Lys) c.1588C>A (p.Gln530Lys) c.1540C>A (p.Gln514Lys) c.931C>A (p.Gln311Lys) n.2026C>A c.1582C>A (p.Gln528Lys) c.1639C>A (p.Gln547Lys) c.1678C>A (p.Gln560Lys) c.1345C>A (p.Gln449Lys) n.1918C>A n.1809C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.243426449C= | CA1230390592 | SDCCAG8 | c.1876C= (p.Gln626=) c.979C= (p.Gln327=) n.83C= c.1747C= (p.Gln583=) c.1453C= (p.Gln485=) c.973C= (p.Gln325=) c.955C= (p.Gln319=) c.1906C= (p.Gln636=) c.1777C= (p.Gln593=) c.1717C= (p.Gln573=) c.2002C= (p.Gln668=) c.1972C= (p.Gln658=) c.1813C= (p.Gln605=) c.1765C= (p.Gln589=) c.1588C= (p.Gln530=) c.1540C= (p.Gln514=) c.931C= (p.Gln311=) n.2026C= c.1582C= (p.Gln528=) c.1639C= (p.Gln547=) c.1678C= (p.Gln560=) c.1345C= (p.Gln449=) n.1918C= n.1809C= | |
1 | g.243426449C>G | CA345667684 | SDCCAG8 | c.1876C>G (p.Gln626Glu) c.979C>G (p.Gln327Glu) n.83C>G c.1747C>G (p.Gln583Glu) c.1453C>G (p.Gln485Glu) c.973C>G (p.Gln325Glu) c.955C>G (p.Gln319Glu) c.1906C>G (p.Gln636Glu) c.1777C>G (p.Gln593Glu) c.1717C>G (p.Gln573Glu) c.2002C>G (p.Gln668Glu) c.1972C>G (p.Gln658Glu) c.1813C>G (p.Gln605Glu) c.1765C>G (p.Gln589Glu) c.1588C>G (p.Gln530Glu) c.1540C>G (p.Gln514Glu) c.931C>G (p.Gln311Glu) n.2026C>G c.1582C>G (p.Gln528Glu) c.1639C>G (p.Gln547Glu) c.1678C>G (p.Gln560Glu) c.1345C>G (p.Gln449Glu) n.1918C>G n.1809C>G | |
1 | g.243426449C>T | CA345667685 | SDCCAG8 | c.1876C>T (p.Gln626Ter) c.979C>T (p.Gln327Ter) n.83C>T c.1747C>T (p.Gln583Ter) c.1453C>T (p.Gln485Ter) c.973C>T (p.Gln325Ter) c.955C>T (p.Gln319Ter) c.1906C>T (p.Gln636Ter) c.1777C>T (p.Gln593Ter) c.1717C>T (p.Gln573Ter) c.2002C>T (p.Gln668Ter) c.1972C>T (p.Gln658Ter) c.1813C>T (p.Gln605Ter) c.1765C>T (p.Gln589Ter) c.1588C>T (p.Gln530Ter) c.1540C>T (p.Gln514Ter) c.931C>T (p.Gln311Ter) n.2026C>T c.1582C>T (p.Gln528Ter) c.1639C>T (p.Gln547Ter) c.1678C>T (p.Gln560Ter) c.1345C>T (p.Gln449Ter) n.1918C>T n.1809C>T | |
1 | g.243426450A>C | CA345667686 | SDCCAG8 | c.1877A>C (p.Gln626Pro) c.980A>C (p.Gln327Pro) n.84A>C c.1748A>C (p.Gln583Pro) c.1454A>C (p.Gln485Pro) c.974A>C (p.Gln325Pro) c.956A>C (p.Gln319Pro) c.1907A>C (p.Gln636Pro) c.1778A>C (p.Gln593Pro) c.1718A>C (p.Gln573Pro) c.2003A>C (p.Gln668Pro) c.1973A>C (p.Gln658Pro) c.1814A>C (p.Gln605Pro) c.1766A>C (p.Gln589Pro) c.1589A>C (p.Gln530Pro) c.1541A>C (p.Gln514Pro) c.932A>C (p.Gln311Pro) n.2027A>C c.1583A>C (p.Gln528Pro) c.1640A>C (p.Gln547Pro) c.1679A>C (p.Gln560Pro) c.1346A>C (p.Gln449Pro) n.1919A>C n.1810A>C | |
1 | g.243426450A>G | CA345667687 | SDCCAG8 | c.1877A>G (p.Gln626Arg) c.980A>G (p.Gln327Arg) n.84A>G c.1748A>G (p.Gln583Arg) c.1454A>G (p.Gln485Arg) c.974A>G (p.Gln325Arg) c.956A>G (p.Gln319Arg) c.1907A>G (p.Gln636Arg) c.1778A>G (p.Gln593Arg) c.1718A>G (p.Gln573Arg) c.2003A>G (p.Gln668Arg) c.1973A>G (p.Gln658Arg) c.1814A>G (p.Gln605Arg) c.1766A>G (p.Gln589Arg) c.1589A>G (p.Gln530Arg) c.1541A>G (p.Gln514Arg) c.932A>G (p.Gln311Arg) n.2027A>G c.1583A>G (p.Gln528Arg) c.1640A>G (p.Gln547Arg) c.1679A>G (p.Gln560Arg) c.1346A>G (p.Gln449Arg) n.1919A>G n.1810A>G | |
1 | g.243426450A>T | CA345667688 | SDCCAG8 | c.1877A>T (p.Gln626Leu) c.980A>T (p.Gln327Leu) n.84A>T c.1748A>T (p.Gln583Leu) c.1454A>T (p.Gln485Leu) c.974A>T (p.Gln325Leu) c.956A>T (p.Gln319Leu) c.1907A>T (p.Gln636Leu) c.1778A>T (p.Gln593Leu) c.1718A>T (p.Gln573Leu) c.2003A>T (p.Gln668Leu) c.1973A>T (p.Gln658Leu) c.1814A>T (p.Gln605Leu) c.1766A>T (p.Gln589Leu) c.1589A>T (p.Gln530Leu) c.1541A>T (p.Gln514Leu) c.932A>T (p.Gln311Leu) n.2027A>T c.1583A>T (p.Gln528Leu) c.1640A>T (p.Gln547Leu) c.1679A>T (p.Gln560Leu) c.1346A>T (p.Gln449Leu) n.1919A>T n.1810A>T | |
1 | g.243426451A>C | CA345667689 | SDCCAG8 | c.1878A>C (p.Gln626His) c.981A>C (p.Gln327His) n.85A>C c.1749A>C (p.Gln583His) c.1455A>C (p.Gln485His) c.975A>C (p.Gln325His) c.957A>C (p.Gln319His) c.1908A>C (p.Gln636His) c.1779A>C (p.Gln593His) c.1719A>C (p.Gln573His) c.2004A>C (p.Gln668His) c.1974A>C (p.Gln658His) c.1815A>C (p.Gln605His) c.1767A>C (p.Gln589His) c.1590A>C (p.Gln530His) c.1542A>C (p.Gln514His) c.933A>C (p.Gln311His) n.2028A>C c.1584A>C (p.Gln528His) c.1641A>C (p.Gln547His) c.1680A>C (p.Gln560His) c.1347A>C (p.Gln449His) n.1920A>C n.1811A>C | |
1 | g.243426451A>G | CA424346853 | SDCCAG8 | c.1878A>G (p.Gln626=) c.981A>G (p.Gln327=) n.85A>G c.1749A>G (p.Gln583=) c.1455A>G (p.Gln485=) c.975A>G (p.Gln325=) c.957A>G (p.Gln319=) c.1908A>G (p.Gln636=) c.1779A>G (p.Gln593=) c.1719A>G (p.Gln573=) c.2004A>G (p.Gln668=) c.1974A>G (p.Gln658=) c.1815A>G (p.Gln605=) c.1767A>G (p.Gln589=) c.1590A>G (p.Gln530=) c.1542A>G (p.Gln514=) c.933A>G (p.Gln311=) n.2028A>G c.1584A>G (p.Gln528=) c.1641A>G (p.Gln547=) c.1680A>G (p.Gln560=) c.1347A>G (p.Gln449=) n.1920A>G n.1811A>G | dbSNP |
1 | g.243426451A>T | CA345667690 | SDCCAG8 | c.1878A>T (p.Gln626His) c.981A>T (p.Gln327His) n.85A>T c.1749A>T (p.Gln583His) c.1455A>T (p.Gln485His) c.975A>T (p.Gln325His) c.957A>T (p.Gln319His) c.1908A>T (p.Gln636His) c.1779A>T (p.Gln593His) c.1719A>T (p.Gln573His) c.2004A>T (p.Gln668His) c.1974A>T (p.Gln658His) c.1815A>T (p.Gln605His) c.1767A>T (p.Gln589His) c.1590A>T (p.Gln530His) c.1542A>T (p.Gln514His) c.933A>T (p.Gln311His) n.2028A>T c.1584A>T (p.Gln528His) c.1641A>T (p.Gln547His) c.1680A>T (p.Gln560His) c.1347A>T (p.Gln449His) n.1920A>T n.1811A>T | |
1 | g.243426452G>A | CA345667691 | SDCCAG8 | c.1879G>A (p.Glu627Lys) c.982G>A (p.Glu328Lys) n.86G>A c.1750G>A (p.Glu584Lys) c.1456G>A (p.Glu486Lys) c.976G>A (p.Glu326Lys) c.958G>A (p.Glu320Lys) c.1909G>A (p.Glu637Lys) c.1780G>A (p.Glu594Lys) c.1720G>A (p.Glu574Lys) c.2005G>A (p.Glu669Lys) c.1975G>A (p.Glu659Lys) c.1816G>A (p.Glu606Lys) c.1768G>A (p.Glu590Lys) c.1591G>A (p.Glu531Lys) c.1543G>A (p.Glu515Lys) c.934G>A (p.Glu312Lys) n.2029G>A c.1585G>A (p.Glu529Lys) c.1642G>A (p.Glu548Lys) c.1681G>A (p.Glu561Lys) c.1348G>A (p.Glu450Lys) n.1921G>A n.1812G>A | |
1 | g.243426452G>C | CA345667692 | SDCCAG8 | c.1879G>C (p.Glu627Gln) c.982G>C (p.Glu328Gln) n.86G>C c.1750G>C (p.Glu584Gln) c.1456G>C (p.Glu486Gln) c.976G>C (p.Glu326Gln) c.958G>C (p.Glu320Gln) c.1909G>C (p.Glu637Gln) c.1780G>C (p.Glu594Gln) c.1720G>C (p.Glu574Gln) c.2005G>C (p.Glu669Gln) c.1975G>C (p.Glu659Gln) c.1816G>C (p.Glu606Gln) c.1768G>C (p.Glu590Gln) c.1591G>C (p.Glu531Gln) c.1543G>C (p.Glu515Gln) c.934G>C (p.Glu312Gln) n.2029G>C c.1585G>C (p.Glu529Gln) c.1642G>C (p.Glu548Gln) c.1681G>C (p.Glu561Gln) c.1348G>C (p.Glu450Gln) n.1921G>C n.1812G>C | |
1 | g.243426452G>T | CA345667693 | SDCCAG8 | c.1879G>T (p.Glu627Ter) c.982G>T (p.Glu328Ter) n.86G>T c.1750G>T (p.Glu584Ter) c.1456G>T (p.Glu486Ter) c.976G>T (p.Glu326Ter) c.958G>T (p.Glu320Ter) c.1909G>T (p.Glu637Ter) c.1780G>T (p.Glu594Ter) c.1720G>T (p.Glu574Ter) c.2005G>T (p.Glu669Ter) c.1975G>T (p.Glu659Ter) c.1816G>T (p.Glu606Ter) c.1768G>T (p.Glu590Ter) c.1591G>T (p.Glu531Ter) c.1543G>T (p.Glu515Ter) c.934G>T (p.Glu312Ter) n.2029G>T c.1585G>T (p.Glu529Ter) c.1642G>T (p.Glu548Ter) c.1681G>T (p.Glu561Ter) c.1348G>T (p.Glu450Ter) n.1921G>T n.1812G>T | |
1 | g.243426453A= | CA1230390593 | SDCCAG8 | c.1880A= (p.Glu627=) c.983A= (p.Glu328=) n.87A= c.1751A= (p.Glu584=) c.1457A= (p.Glu486=) c.977A= (p.Glu326=) c.959A= (p.Glu320=) c.1910A= (p.Glu637=) c.1781A= (p.Glu594=) c.1721A= (p.Glu574=) c.2006A= (p.Glu669=) c.1976A= (p.Glu659=) c.1817A= (p.Glu606=) c.1769A= (p.Glu590=) c.1592A= (p.Glu531=) c.1544A= (p.Glu515=) c.935A= (p.Glu312=) n.2030A= c.1586A= (p.Glu529=) c.1643A= (p.Glu548=) c.1682A= (p.Glu561=) c.1349A= (p.Glu450=) n.1922A= n.1813A= | |
1 | g.243426453A>C | CA345667694 | SDCCAG8 | c.1880A>C (p.Glu627Ala) c.983A>C (p.Glu328Ala) n.87A>C c.1751A>C (p.Glu584Ala) c.1457A>C (p.Glu486Ala) c.977A>C (p.Glu326Ala) c.959A>C (p.Glu320Ala) c.1910A>C (p.Glu637Ala) c.1781A>C (p.Glu594Ala) c.1721A>C (p.Glu574Ala) c.2006A>C (p.Glu669Ala) c.1976A>C (p.Glu659Ala) c.1817A>C (p.Glu606Ala) c.1769A>C (p.Glu590Ala) c.1592A>C (p.Glu531Ala) c.1544A>C (p.Glu515Ala) c.935A>C (p.Glu312Ala) n.2030A>C c.1586A>C (p.Glu529Ala) c.1643A>C (p.Glu548Ala) c.1682A>C (p.Glu561Ala) c.1349A>C (p.Glu450Ala) n.1922A>C n.1813A>C | |
1 | g.243426453A>G | CA345667695 | SDCCAG8 | c.1880A>G (p.Glu627Gly) c.983A>G (p.Glu328Gly) n.87A>G c.1751A>G (p.Glu584Gly) c.1457A>G (p.Glu486Gly) c.977A>G (p.Glu326Gly) c.959A>G (p.Glu320Gly) c.1910A>G (p.Glu637Gly) c.1781A>G (p.Glu594Gly) c.1721A>G (p.Glu574Gly) c.2006A>G (p.Glu669Gly) c.1976A>G (p.Glu659Gly) c.1817A>G (p.Glu606Gly) c.1769A>G (p.Glu590Gly) c.1592A>G (p.Glu531Gly) c.1544A>G (p.Glu515Gly) c.935A>G (p.Glu312Gly) n.2030A>G c.1586A>G (p.Glu529Gly) c.1643A>G (p.Glu548Gly) c.1682A>G (p.Glu561Gly) c.1349A>G (p.Glu450Gly) n.1922A>G n.1813A>G | |
1 | g.243426453A>T | CA345667696 | SDCCAG8 | c.1880A>T (p.Glu627Val) c.983A>T (p.Glu328Val) n.87A>T c.1751A>T (p.Glu584Val) c.1457A>T (p.Glu486Val) c.977A>T (p.Glu326Val) c.959A>T (p.Glu320Val) c.1910A>T (p.Glu637Val) c.1781A>T (p.Glu594Val) c.1721A>T (p.Glu574Val) c.2006A>T (p.Glu669Val) c.1976A>T (p.Glu659Val) c.1817A>T (p.Glu606Val) c.1769A>T (p.Glu590Val) c.1592A>T (p.Glu531Val) c.1544A>T (p.Glu515Val) c.935A>T (p.Glu312Val) n.2030A>T c.1586A>T (p.Glu529Val) c.1643A>T (p.Glu548Val) c.1682A>T (p.Glu561Val) c.1349A>T (p.Glu450Val) n.1922A>T n.1813A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.243426458dup | CA2739292114 | SDCCAG8 | c.1885dup (p.Arg629LysfsTer5) c.988dup (p.Arg330LysfsTer5) n.92dup c.1756dup (p.Arg586LysfsTer5) c.1462dup (p.Arg488LysfsTer5) c.982dup (p.Arg328LysfsTer5) c.964dup (p.Arg322LysfsTer5) c.1915dup (p.Arg639LysfsTer5) c.1786dup (p.Arg596LysfsTer5) c.1726dup (p.Arg576LysfsTer5) c.2011dup (p.Arg671LysfsTer5) c.1981dup (p.Arg661LysfsTer5) c.1822dup (p.Arg608LysfsTer5) c.1774dup (p.Arg592LysfsTer5) c.1597dup (p.Arg533LysfsTer5) c.1549dup (p.Arg517LysfsTer5) c.940dup (p.Arg314LysfsTer5) n.2035dup c.1591dup (p.Arg531LysfsTer5) c.1648dup (p.Arg550LysfsTer5) c.1687dup (p.Arg563LysfsTer5) c.1354dup (p.Arg452LysfsTer5) n.1927dup n.1818dup | |
1 | g.243426458del | CA2651305519 | SDCCAG8 | c.1885del (p.Arg629GlyfsTer?) c.988del (p.Arg330GlyfsTer?) n.92del c.1756del (p.Arg586GlyfsTer?) c.1462del (p.Arg488GlyfsTer?) c.982del (p.Arg328GlyfsTer?) c.964del (p.Arg322GlyfsTer?) c.1915del (p.Arg639GlyfsTer?) c.1786del (p.Arg596GlyfsTer?) c.1726del (p.Arg576GlyfsTer?) c.2011del (p.Arg671GlyfsTer?) c.1981del (p.Arg661GlyfsTer?) c.1822del (p.Arg608GlyfsTer?) c.1774del (p.Arg592GlyfsTer?) c.1597del (p.Arg533GlyfsTer?) c.1549del (p.Arg517GlyfsTer?) c.940del (p.Arg314GlyfsTer?) n.2035del c.1591del (p.Arg531GlyfsTer?) c.1648del (p.Arg550GlyfsTer?) c.1687del (p.Arg563GlyfsTer?) c.1354del (p.Arg452GlyfsTer?) n.1927del n.1818del | gnomAD v4 |
1 | g.243426454A>C | CA345667697 | SDCCAG8 | c.1881A>C (p.Glu627Asp) c.984A>C (p.Glu328Asp) n.88A>C c.1752A>C (p.Glu584Asp) c.1458A>C (p.Glu486Asp) c.978A>C (p.Glu326Asp) c.960A>C (p.Glu320Asp) c.1911A>C (p.Glu637Asp) c.1782A>C (p.Glu594Asp) c.1722A>C (p.Glu574Asp) c.2007A>C (p.Glu669Asp) c.1977A>C (p.Glu659Asp) c.1818A>C (p.Glu606Asp) c.1770A>C (p.Glu590Asp) c.1593A>C (p.Glu531Asp) c.1545A>C (p.Glu515Asp) c.936A>C (p.Glu312Asp) n.2031A>C c.1587A>C (p.Glu529Asp) c.1644A>C (p.Glu548Asp) c.1683A>C (p.Glu561Asp) c.1350A>C (p.Glu450Asp) n.1923A>C n.1814A>C | |
1 | g.243426454A>G | CA424346854 | SDCCAG8 | c.1881A>G (p.Glu627=) c.984A>G (p.Glu328=) n.88A>G c.1752A>G (p.Glu584=) c.1458A>G (p.Glu486=) c.978A>G (p.Glu326=) c.960A>G (p.Glu320=) c.1911A>G (p.Glu637=) c.1782A>G (p.Glu594=) c.1722A>G (p.Glu574=) c.2007A>G (p.Glu669=) c.1977A>G (p.Glu659=) c.1818A>G (p.Glu606=) c.1770A>G (p.Glu590=) c.1593A>G (p.Glu531=) c.1545A>G (p.Glu515=) c.936A>G (p.Glu312=) n.2031A>G c.1587A>G (p.Glu529=) c.1644A>G (p.Glu548=) c.1683A>G (p.Glu561=) c.1350A>G (p.Glu450=) n.1923A>G n.1814A>G | |
1 | g.243426454A>T | CA345667698 | SDCCAG8 | c.1881A>T (p.Glu627Asp) c.984A>T (p.Glu328Asp) n.88A>T c.1752A>T (p.Glu584Asp) c.1458A>T (p.Glu486Asp) c.978A>T (p.Glu326Asp) c.960A>T (p.Glu320Asp) c.1911A>T (p.Glu637Asp) c.1782A>T (p.Glu594Asp) c.1722A>T (p.Glu574Asp) c.2007A>T (p.Glu669Asp) c.1977A>T (p.Glu659Asp) c.1818A>T (p.Glu606Asp) c.1770A>T (p.Glu590Asp) c.1593A>T (p.Glu531Asp) c.1545A>T (p.Glu515Asp) c.936A>T (p.Glu312Asp) n.2031A>T c.1587A>T (p.Glu529Asp) c.1644A>T (p.Glu548Asp) c.1683A>T (p.Glu561Asp) c.1350A>T (p.Glu450Asp) n.1923A>T n.1814A>T | |
1 | g.243426455A>C | CA345667699 | SDCCAG8 | c.1882A>C (p.Lys628Gln) c.985A>C (p.Lys329Gln) n.89A>C c.1753A>C (p.Lys585Gln) c.1459A>C (p.Lys487Gln) c.979A>C (p.Lys327Gln) c.961A>C (p.Lys321Gln) c.1912A>C (p.Lys638Gln) c.1783A>C (p.Lys595Gln) c.1723A>C (p.Lys575Gln) c.2008A>C (p.Lys670Gln) c.1978A>C (p.Lys660Gln) c.1819A>C (p.Lys607Gln) c.1771A>C (p.Lys591Gln) c.1594A>C (p.Lys532Gln) c.1546A>C (p.Lys516Gln) c.937A>C (p.Lys313Gln) n.2032A>C c.1588A>C (p.Lys530Gln) c.1645A>C (p.Lys549Gln) c.1684A>C (p.Lys562Gln) c.1351A>C (p.Lys451Gln) n.1924A>C n.1815A>C | |
1 | g.243426455A>G | CA345667701 | SDCCAG8 | c.1882A>G (p.Lys628Glu) c.985A>G (p.Lys329Glu) n.89A>G c.1753A>G (p.Lys585Glu) c.1459A>G (p.Lys487Glu) c.979A>G (p.Lys327Glu) c.961A>G (p.Lys321Glu) c.1912A>G (p.Lys638Glu) c.1783A>G (p.Lys595Glu) c.1723A>G (p.Lys575Glu) c.2008A>G (p.Lys670Glu) c.1978A>G (p.Lys660Glu) c.1819A>G (p.Lys607Glu) c.1771A>G (p.Lys591Glu) c.1594A>G (p.Lys532Glu) c.1546A>G (p.Lys516Glu) c.937A>G (p.Lys313Glu) n.2032A>G c.1588A>G (p.Lys530Glu) c.1645A>G (p.Lys549Glu) c.1684A>G (p.Lys562Glu) c.1351A>G (p.Lys451Glu) n.1924A>G n.1815A>G | |
1 | g.243426455A>T | CA345667700 | SDCCAG8 | c.1882A>T (p.Lys628Ter) c.985A>T (p.Lys329Ter) n.89A>T c.1753A>T (p.Lys585Ter) c.1459A>T (p.Lys487Ter) c.979A>T (p.Lys327Ter) c.961A>T (p.Lys321Ter) c.1912A>T (p.Lys638Ter) c.1783A>T (p.Lys595Ter) c.1723A>T (p.Lys575Ter) c.2008A>T (p.Lys670Ter) c.1978A>T (p.Lys660Ter) c.1819A>T (p.Lys607Ter) c.1771A>T (p.Lys591Ter) c.1594A>T (p.Lys532Ter) c.1546A>T (p.Lys516Ter) c.937A>T (p.Lys313Ter) n.2032A>T c.1588A>T (p.Lys530Ter) c.1645A>T (p.Lys549Ter) c.1684A>T (p.Lys562Ter) c.1351A>T (p.Lys451Ter) n.1924A>T n.1815A>T | dbSNP |
1 | g.243426456A>C | CA345667702 | SDCCAG8 | c.1883A>C (p.Lys628Thr) c.986A>C (p.Lys329Thr) n.90A>C c.1754A>C (p.Lys585Thr) c.1460A>C (p.Lys487Thr) c.980A>C (p.Lys327Thr) c.962A>C (p.Lys321Thr) c.1913A>C (p.Lys638Thr) c.1784A>C (p.Lys595Thr) c.1724A>C (p.Lys575Thr) c.2009A>C (p.Lys670Thr) c.1979A>C (p.Lys660Thr) c.1820A>C (p.Lys607Thr) c.1772A>C (p.Lys591Thr) c.1595A>C (p.Lys532Thr) c.1547A>C (p.Lys516Thr) c.938A>C (p.Lys313Thr) n.2033A>C c.1589A>C (p.Lys530Thr) c.1646A>C (p.Lys549Thr) c.1685A>C (p.Lys562Thr) c.1352A>C (p.Lys451Thr) n.1925A>C n.1816A>C | |
1 | g.243426456A>G | CA345667703 | SDCCAG8 | c.1883A>G (p.Lys628Arg) c.986A>G (p.Lys329Arg) n.90A>G c.1754A>G (p.Lys585Arg) c.1460A>G (p.Lys487Arg) c.980A>G (p.Lys327Arg) c.962A>G (p.Lys321Arg) c.1913A>G (p.Lys638Arg) c.1784A>G (p.Lys595Arg) c.1724A>G (p.Lys575Arg) c.2009A>G (p.Lys670Arg) c.1979A>G (p.Lys660Arg) c.1820A>G (p.Lys607Arg) c.1772A>G (p.Lys591Arg) c.1595A>G (p.Lys532Arg) c.1547A>G (p.Lys516Arg) c.938A>G (p.Lys313Arg) n.2033A>G c.1589A>G (p.Lys530Arg) c.1646A>G (p.Lys549Arg) c.1685A>G (p.Lys562Arg) c.1352A>G (p.Lys451Arg) n.1925A>G n.1816A>G | |
1 | g.243426456A>T | CA345667704 | SDCCAG8 | c.1883A>T (p.Lys628Ile) c.986A>T (p.Lys329Ile) n.90A>T c.1754A>T (p.Lys585Ile) c.1460A>T (p.Lys487Ile) c.980A>T (p.Lys327Ile) c.962A>T (p.Lys321Ile) c.1913A>T (p.Lys638Ile) c.1784A>T (p.Lys595Ile) c.1724A>T (p.Lys575Ile) c.2009A>T (p.Lys670Ile) c.1979A>T (p.Lys660Ile) c.1820A>T (p.Lys607Ile) c.1772A>T (p.Lys591Ile) c.1595A>T (p.Lys532Ile) c.1547A>T (p.Lys516Ile) c.938A>T (p.Lys313Ile) n.2033A>T c.1589A>T (p.Lys530Ile) c.1646A>T (p.Lys549Ile) c.1685A>T (p.Lys562Ile) c.1352A>T (p.Lys451Ile) n.1925A>T n.1816A>T | |
1 | g.243426457A= | CA1230390594 | SDCCAG8 | c.1884A= (p.Lys628=) c.987A= (p.Lys329=) n.91A= c.1755A= (p.Lys585=) c.1461A= (p.Lys487=) c.981A= (p.Lys327=) c.963A= (p.Lys321=) c.1914A= (p.Lys638=) c.1785A= (p.Lys595=) c.1725A= (p.Lys575=) c.2010A= (p.Lys670=) c.1980A= (p.Lys660=) c.1821A= (p.Lys607=) c.1773A= (p.Lys591=) c.1596A= (p.Lys532=) c.1548A= (p.Lys516=) c.939A= (p.Lys313=) n.2034A= c.1590A= (p.Lys530=) c.1647A= (p.Lys549=) c.1686A= (p.Lys562=) c.1353A= (p.Lys451=) n.1926A= n.1817A= | |
1 | g.243426457A>C | CA345667705 | SDCCAG8 | c.1884A>C (p.Lys628Asn) c.987A>C (p.Lys329Asn) n.91A>C c.1755A>C (p.Lys585Asn) c.1461A>C (p.Lys487Asn) c.981A>C (p.Lys327Asn) c.963A>C (p.Lys321Asn) c.1914A>C (p.Lys638Asn) c.1785A>C (p.Lys595Asn) c.1725A>C (p.Lys575Asn) c.2010A>C (p.Lys670Asn) c.1980A>C (p.Lys660Asn) c.1821A>C (p.Lys607Asn) c.1773A>C (p.Lys591Asn) c.1596A>C (p.Lys532Asn) c.1548A>C (p.Lys516Asn) c.939A>C (p.Lys313Asn) n.2034A>C c.1590A>C (p.Lys530Asn) c.1647A>C (p.Lys549Asn) c.1686A>C (p.Lys562Asn) c.1353A>C (p.Lys451Asn) n.1926A>C n.1817A>C | dbSNP |
1 | g.243426457A>G | CA424346855 | SDCCAG8 | c.1884A>G (p.Lys628=) c.987A>G (p.Lys329=) n.91A>G c.1755A>G (p.Lys585=) c.1461A>G (p.Lys487=) c.981A>G (p.Lys327=) c.963A>G (p.Lys321=) c.1914A>G (p.Lys638=) c.1785A>G (p.Lys595=) c.1725A>G (p.Lys575=) c.2010A>G (p.Lys670=) c.1980A>G (p.Lys660=) c.1821A>G (p.Lys607=) c.1773A>G (p.Lys591=) c.1596A>G (p.Lys532=) c.1548A>G (p.Lys516=) c.939A>G (p.Lys313=) n.2034A>G c.1590A>G (p.Lys530=) c.1647A>G (p.Lys549=) c.1686A>G (p.Lys562=) c.1353A>G (p.Lys451=) n.1926A>G n.1817A>G | |
1 | g.243426457A>T | CA345667706 | SDCCAG8 | c.1884A>T (p.Lys628Asn) c.987A>T (p.Lys329Asn) n.91A>T c.1755A>T (p.Lys585Asn) c.1461A>T (p.Lys487Asn) c.981A>T (p.Lys327Asn) c.963A>T (p.Lys321Asn) c.1914A>T (p.Lys638Asn) c.1785A>T (p.Lys595Asn) c.1725A>T (p.Lys575Asn) c.2010A>T (p.Lys670Asn) c.1980A>T (p.Lys660Asn) c.1821A>T (p.Lys607Asn) c.1773A>T (p.Lys591Asn) c.1596A>T (p.Lys532Asn) c.1548A>T (p.Lys516Asn) c.939A>T (p.Lys313Asn) n.2034A>T c.1590A>T (p.Lys530Asn) c.1647A>T (p.Lys549Asn) c.1686A>T (p.Lys562Asn) c.1353A>T (p.Lys451Asn) n.1926A>T n.1817A>T | |
1 | g.243426458A>C | CA424346856 | SDCCAG8 | c.1885A>C (p.Arg629=) c.988A>C (p.Arg330=) n.92A>C c.1756A>C (p.Arg586=) c.1462A>C (p.Arg488=) c.982A>C (p.Arg328=) c.964A>C (p.Arg322=) c.1915A>C (p.Arg639=) c.1786A>C (p.Arg596=) c.1726A>C (p.Arg576=) c.2011A>C (p.Arg671=) c.1981A>C (p.Arg661=) c.1822A>C (p.Arg608=) c.1774A>C (p.Arg592=) c.1597A>C (p.Arg533=) c.1549A>C (p.Arg517=) c.940A>C (p.Arg314=) n.2035A>C c.1591A>C (p.Arg531=) c.1648A>C (p.Arg550=) c.1687A>C (p.Arg563=) c.1354A>C (p.Arg452=) n.1927A>C n.1818A>C | |
1 | g.243426458A>G | CA345667707 | SDCCAG8 | c.1885A>G (p.Arg629Gly) c.988A>G (p.Arg330Gly) n.92A>G c.1756A>G (p.Arg586Gly) c.1462A>G (p.Arg488Gly) c.982A>G (p.Arg328Gly) c.964A>G (p.Arg322Gly) c.1915A>G (p.Arg639Gly) c.1786A>G (p.Arg596Gly) c.1726A>G (p.Arg576Gly) c.2011A>G (p.Arg671Gly) c.1981A>G (p.Arg661Gly) c.1822A>G (p.Arg608Gly) c.1774A>G (p.Arg592Gly) c.1597A>G (p.Arg533Gly) c.1549A>G (p.Arg517Gly) c.940A>G (p.Arg314Gly) n.2035A>G c.1591A>G (p.Arg531Gly) c.1648A>G (p.Arg550Gly) c.1687A>G (p.Arg563Gly) c.1354A>G (p.Arg452Gly) n.1927A>G n.1818A>G | |
1 | g.243426458A>T | CA345667708 | SDCCAG8 | c.1885A>T (p.Arg629Trp) c.988A>T (p.Arg330Trp) n.92A>T c.1756A>T (p.Arg586Trp) c.1462A>T (p.Arg488Trp) c.982A>T (p.Arg328Trp) c.964A>T (p.Arg322Trp) c.1915A>T (p.Arg639Trp) c.1786A>T (p.Arg596Trp) c.1726A>T (p.Arg576Trp) c.2011A>T (p.Arg671Trp) c.1981A>T (p.Arg661Trp) c.1822A>T (p.Arg608Trp) c.1774A>T (p.Arg592Trp) c.1597A>T (p.Arg533Trp) c.1549A>T (p.Arg517Trp) c.940A>T (p.Arg314Trp) n.2035A>T c.1591A>T (p.Arg531Trp) c.1648A>T (p.Arg550Trp) c.1687A>T (p.Arg563Trp) c.1354A>T (p.Arg452Trp) n.1927A>T n.1818A>T | |
1 | g.243426459G>A | CA345667709 | SDCCAG8 | c.1886G>A (p.Arg629Lys) c.989G>A (p.Arg330Lys) n.93G>A c.1757G>A (p.Arg586Lys) c.1463G>A (p.Arg488Lys) c.983G>A (p.Arg328Lys) c.965G>A (p.Arg322Lys) c.1916G>A (p.Arg639Lys) c.1787G>A (p.Arg596Lys) c.1727G>A (p.Arg576Lys) c.2012G>A (p.Arg671Lys) c.1982G>A (p.Arg661Lys) c.1823G>A (p.Arg608Lys) c.1775G>A (p.Arg592Lys) c.1598G>A (p.Arg533Lys) c.1550G>A (p.Arg517Lys) c.941G>A (p.Arg314Lys) n.2036G>A c.1592G>A (p.Arg531Lys) c.1649G>A (p.Arg550Lys) c.1688G>A (p.Arg563Lys) c.1355G>A (p.Arg452Lys) n.1928G>A n.1819G>A | |
1 | g.243426459G>C | CA1483767 | SDCCAG8 | c.1886G>C (p.Arg629Thr) c.989G>C (p.Arg330Thr) n.93G>C c.1757G>C (p.Arg586Thr) c.1463G>C (p.Arg488Thr) c.983G>C (p.Arg328Thr) c.965G>C (p.Arg322Thr) c.1916G>C (p.Arg639Thr) c.1787G>C (p.Arg596Thr) c.1727G>C (p.Arg576Thr) c.2012G>C (p.Arg671Thr) c.1982G>C (p.Arg661Thr) c.1823G>C (p.Arg608Thr) c.1775G>C (p.Arg592Thr) c.1598G>C (p.Arg533Thr) c.1550G>C (p.Arg517Thr) c.941G>C (p.Arg314Thr) n.2036G>C c.1592G>C (p.Arg531Thr) c.1649G>C (p.Arg550Thr) c.1688G>C (p.Arg563Thr) c.1355G>C (p.Arg452Thr) n.1928G>C n.1819G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.243426459G= | CA1145882282 | SDCCAG8 | c.1886G= (p.Arg629=) c.989G= (p.Arg330=) n.93G= c.1757G= (p.Arg586=) c.1463G= (p.Arg488=) c.983G= (p.Arg328=) c.965G= (p.Arg322=) c.1916G= (p.Arg639=) c.1787G= (p.Arg596=) c.1727G= (p.Arg576=) c.2012G= (p.Arg671=) c.1982G= (p.Arg661=) c.1823G= (p.Arg608=) c.1775G= (p.Arg592=) c.1598G= (p.Arg533=) c.1550G= (p.Arg517=) c.941G= (p.Arg314=) n.2036G= c.1592G= (p.Arg531=) c.1649G= (p.Arg550=) c.1688G= (p.Arg563=) c.1355G= (p.Arg452=) n.1928G= n.1819G= | |
1 | g.243426459G>T | CA345667710 | SDCCAG8 | c.1886G>T (p.Arg629Met) c.989G>T (p.Arg330Met) n.93G>T c.1757G>T (p.Arg586Met) c.1463G>T (p.Arg488Met) c.983G>T (p.Arg328Met) c.965G>T (p.Arg322Met) c.1916G>T (p.Arg639Met) c.1787G>T (p.Arg596Met) c.1727G>T (p.Arg576Met) c.2012G>T (p.Arg671Met) c.1982G>T (p.Arg661Met) c.1823G>T (p.Arg608Met) c.1775G>T (p.Arg592Met) c.1598G>T (p.Arg533Met) c.1550G>T (p.Arg517Met) c.941G>T (p.Arg314Met) n.2036G>T c.1592G>T (p.Arg531Met) c.1649G>T (p.Arg550Met) c.1688G>T (p.Arg563Met) c.1355G>T (p.Arg452Met) n.1928G>T n.1819G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.243426460G>A | CA424346857 | SDCCAG8 | c.1887G>A (p.Arg629=) c.990G>A (p.Arg330=) n.94G>A c.1758G>A (p.Arg586=) c.1464G>A (p.Arg488=) c.984G>A (p.Arg328=) c.966G>A (p.Arg322=) c.1917G>A (p.Arg639=) c.1788G>A (p.Arg596=) c.1728G>A (p.Arg576=) c.2013G>A (p.Arg671=) c.1983G>A (p.Arg661=) c.1824G>A (p.Arg608=) c.1776G>A (p.Arg592=) c.1599G>A (p.Arg533=) c.1551G>A (p.Arg517=) c.942G>A (p.Arg314=) n.2037G>A c.1593G>A (p.Arg531=) c.1650G>A (p.Arg550=) c.1689G>A (p.Arg563=) c.1356G>A (p.Arg452=) n.1929G>A n.1820G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.243426460G>C | CA345667711 | SDCCAG8 | c.1887G>C (p.Arg629Ser) c.990G>C (p.Arg330Ser) n.94G>C c.1758G>C (p.Arg586Ser) c.1464G>C (p.Arg488Ser) c.984G>C (p.Arg328Ser) c.966G>C (p.Arg322Ser) c.1917G>C (p.Arg639Ser) c.1788G>C (p.Arg596Ser) c.1728G>C (p.Arg576Ser) c.2013G>C (p.Arg671Ser) c.1983G>C (p.Arg661Ser) c.1824G>C (p.Arg608Ser) c.1776G>C (p.Arg592Ser) c.1599G>C (p.Arg533Ser) c.1551G>C (p.Arg517Ser) c.942G>C (p.Arg314Ser) n.2037G>C c.1593G>C (p.Arg531Ser) c.1650G>C (p.Arg550Ser) c.1689G>C (p.Arg563Ser) c.1356G>C (p.Arg452Ser) n.1929G>C n.1820G>C | |
1 | g.243426460G= | CA1230390595 | SDCCAG8 | c.1887G= (p.Arg629=) c.990G= (p.Arg330=) n.94G= c.1758G= (p.Arg586=) c.1464G= (p.Arg488=) c.984G= (p.Arg328=) c.966G= (p.Arg322=) c.1917G= (p.Arg639=) c.1788G= (p.Arg596=) c.1728G= (p.Arg576=) c.2013G= (p.Arg671=) c.1983G= (p.Arg661=) c.1824G= (p.Arg608=) c.1776G= (p.Arg592=) c.1599G= (p.Arg533=) c.1551G= (p.Arg517=) c.942G= (p.Arg314=) n.2037G= c.1593G= (p.Arg531=) c.1650G= (p.Arg550=) c.1689G= (p.Arg563=) c.1356G= (p.Arg452=) n.1929G= n.1820G= | |
1 | g.243426460G>T | CA1483768 | SDCCAG8 | c.1887G>T (p.Arg629Ser) c.990G>T (p.Arg330Ser) n.94G>T c.1758G>T (p.Arg586Ser) c.1464G>T (p.Arg488Ser) c.984G>T (p.Arg328Ser) c.966G>T (p.Arg322Ser) c.1917G>T (p.Arg639Ser) c.1788G>T (p.Arg596Ser) c.1728G>T (p.Arg576Ser) c.2013G>T (p.Arg671Ser) c.1983G>T (p.Arg661Ser) c.1824G>T (p.Arg608Ser) c.1776G>T (p.Arg592Ser) c.1599G>T (p.Arg533Ser) c.1551G>T (p.Arg517Ser) c.942G>T (p.Arg314Ser) n.2037G>T c.1593G>T (p.Arg531Ser) c.1650G>T (p.Arg550Ser) c.1689G>T (p.Arg563Ser) c.1356G>T (p.Arg452Ser) n.1929G>T n.1820G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.243426461T>A | CA345667713 | SDCCAG8 | c.1888T>A (p.Tyr630Asn) c.991T>A (p.Tyr331Asn) n.95T>A c.1759T>A (p.Tyr587Asn) c.1465T>A (p.Tyr489Asn) c.985T>A (p.Tyr329Asn) c.967T>A (p.Tyr323Asn) c.1918T>A (p.Tyr640Asn) c.1789T>A (p.Tyr597Asn) c.1729T>A (p.Tyr577Asn) c.2014T>A (p.Tyr672Asn) c.1984T>A (p.Tyr662Asn) c.1825T>A (p.Tyr609Asn) c.1777T>A (p.Tyr593Asn) c.1600T>A (p.Tyr534Asn) c.1552T>A (p.Tyr518Asn) c.943T>A (p.Tyr315Asn) n.2038T>A c.1594T>A (p.Tyr532Asn) c.1651T>A (p.Tyr551Asn) c.1690T>A (p.Tyr564Asn) c.1357T>A (p.Tyr453Asn) n.1930T>A n.1821T>A | |
1 | g.243426461T>C | CA1483769 | SDCCAG8 | c.1888T>C (p.Tyr630His) c.991T>C (p.Tyr331His) n.95T>C c.1759T>C (p.Tyr587His) c.1465T>C (p.Tyr489His) c.985T>C (p.Tyr329His) c.967T>C (p.Tyr323His) c.1918T>C (p.Tyr640His) c.1789T>C (p.Tyr597His) c.1729T>C (p.Tyr577His) c.2014T>C (p.Tyr672His) c.1984T>C (p.Tyr662His) c.1825T>C (p.Tyr609His) c.1777T>C (p.Tyr593His) c.1600T>C (p.Tyr534His) c.1552T>C (p.Tyr518His) c.943T>C (p.Tyr315His) n.2038T>C c.1594T>C (p.Tyr532His) c.1651T>C (p.Tyr551His) c.1690T>C (p.Tyr564His) c.1357T>C (p.Tyr453His) n.1930T>C n.1821T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.243426461T>G | CA345667712 | SDCCAG8 | c.1888T>G (p.Tyr630Asp) c.991T>G (p.Tyr331Asp) n.95T>G c.1759T>G (p.Tyr587Asp) c.1465T>G (p.Tyr489Asp) c.985T>G (p.Tyr329Asp) c.967T>G (p.Tyr323Asp) c.1918T>G (p.Tyr640Asp) c.1789T>G (p.Tyr597Asp) c.1729T>G (p.Tyr577Asp) c.2014T>G (p.Tyr672Asp) c.1984T>G (p.Tyr662Asp) c.1825T>G (p.Tyr609Asp) c.1777T>G (p.Tyr593Asp) c.1600T>G (p.Tyr534Asp) c.1552T>G (p.Tyr518Asp) c.943T>G (p.Tyr315Asp) n.2038T>G c.1594T>G (p.Tyr532Asp) c.1651T>G (p.Tyr551Asp) c.1690T>G (p.Tyr564Asp) c.1357T>G (p.Tyr453Asp) n.1930T>G n.1821T>G | |
1 | g.243426461T= | CA1141601957 | SDCCAG8 | c.1888T= (p.Tyr630=) c.991T= (p.Tyr331=) n.95T= c.1759T= (p.Tyr587=) c.1465T= (p.Tyr489=) c.985T= (p.Tyr329=) c.967T= (p.Tyr323=) c.1918T= (p.Tyr640=) c.1789T= (p.Tyr597=) c.1729T= (p.Tyr577=) c.2014T= (p.Tyr672=) c.1984T= (p.Tyr662=) c.1825T= (p.Tyr609=) c.1777T= (p.Tyr593=) c.1600T= (p.Tyr534=) c.1552T= (p.Tyr518=) c.943T= (p.Tyr315=) n.2038T= c.1594T= (p.Tyr532=) c.1651T= (p.Tyr551=) c.1690T= (p.Tyr564=) c.1357T= (p.Tyr453=) n.1930T= n.1821T= | |
1 | g.243426462A= | CA1230390596 | SDCCAG8 | c.1889A= (p.Tyr630=) c.992A= (p.Tyr331=) n.96A= c.1760A= (p.Tyr587=) c.1466A= (p.Tyr489=) c.986A= (p.Tyr329=) c.968A= (p.Tyr323=) c.1919A= (p.Tyr640=) c.1790A= (p.Tyr597=) c.1730A= (p.Tyr577=) c.2015A= (p.Tyr672=) c.1985A= (p.Tyr662=) c.1826A= (p.Tyr609=) c.1778A= (p.Tyr593=) c.1601A= (p.Tyr534=) c.1553A= (p.Tyr518=) c.944A= (p.Tyr315=) n.2039A= c.1595A= (p.Tyr532=) c.1652A= (p.Tyr551=) c.1691A= (p.Tyr564=) c.1358A= (p.Tyr453=) n.1931A= n.1822A= | |
1 | g.243426462A>C | CA345667714 | SDCCAG8 | c.1889A>C (p.Tyr630Ser) c.992A>C (p.Tyr331Ser) n.96A>C c.1760A>C (p.Tyr587Ser) c.1466A>C (p.Tyr489Ser) c.986A>C (p.Tyr329Ser) c.968A>C (p.Tyr323Ser) c.1919A>C (p.Tyr640Ser) c.1790A>C (p.Tyr597Ser) c.1730A>C (p.Tyr577Ser) c.2015A>C (p.Tyr672Ser) c.1985A>C (p.Tyr662Ser) c.1826A>C (p.Tyr609Ser) c.1778A>C (p.Tyr593Ser) c.1601A>C (p.Tyr534Ser) c.1553A>C (p.Tyr518Ser) c.944A>C (p.Tyr315Ser) n.2039A>C c.1595A>C (p.Tyr532Ser) c.1652A>C (p.Tyr551Ser) c.1691A>C (p.Tyr564Ser) c.1358A>C (p.Tyr453Ser) n.1931A>C n.1822A>C | |
1 | g.243426462A>G | CA345667715 | SDCCAG8 | c.1889A>G (p.Tyr630Cys) c.992A>G (p.Tyr331Cys) n.96A>G c.1760A>G (p.Tyr587Cys) c.1466A>G (p.Tyr489Cys) c.986A>G (p.Tyr329Cys) c.968A>G (p.Tyr323Cys) c.1919A>G (p.Tyr640Cys) c.1790A>G (p.Tyr597Cys) c.1730A>G (p.Tyr577Cys) c.2015A>G (p.Tyr672Cys) c.1985A>G (p.Tyr662Cys) c.1826A>G (p.Tyr609Cys) c.1778A>G (p.Tyr593Cys) c.1601A>G (p.Tyr534Cys) c.1553A>G (p.Tyr518Cys) c.944A>G (p.Tyr315Cys) n.2039A>G c.1595A>G (p.Tyr532Cys) c.1652A>G (p.Tyr551Cys) c.1691A>G (p.Tyr564Cys) c.1358A>G (p.Tyr453Cys) n.1931A>G n.1822A>G | |
1 | g.243426462A>T | CA345667716 | SDCCAG8 | c.1889A>T (p.Tyr630Phe) c.992A>T (p.Tyr331Phe) n.96A>T c.1760A>T (p.Tyr587Phe) c.1466A>T (p.Tyr489Phe) c.986A>T (p.Tyr329Phe) c.968A>T (p.Tyr323Phe) c.1919A>T (p.Tyr640Phe) c.1790A>T (p.Tyr597Phe) c.1730A>T (p.Tyr577Phe) c.2015A>T (p.Tyr672Phe) c.1985A>T (p.Tyr662Phe) c.1826A>T (p.Tyr609Phe) c.1778A>T (p.Tyr593Phe) c.1601A>T (p.Tyr534Phe) c.1553A>T (p.Tyr518Phe) c.944A>T (p.Tyr315Phe) n.2039A>T c.1595A>T (p.Tyr532Phe) c.1652A>T (p.Tyr551Phe) c.1691A>T (p.Tyr564Phe) c.1358A>T (p.Tyr453Phe) n.1931A>T n.1822A>T | |
1 | g.243426463T>A | CA345667717 | SDCCAG8 | c.1890T>A (p.Tyr630Ter) c.993T>A (p.Tyr331Ter) n.97T>A c.1761T>A (p.Tyr587Ter) c.1467T>A (p.Tyr489Ter) c.987T>A (p.Tyr329Ter) c.969T>A (p.Tyr323Ter) c.1920T>A (p.Tyr640Ter) c.1791T>A (p.Tyr597Ter) c.1731T>A (p.Tyr577Ter) c.2016T>A (p.Tyr672Ter) c.1986T>A (p.Tyr662Ter) c.1827T>A (p.Tyr609Ter) c.1779T>A (p.Tyr593Ter) c.1602T>A (p.Tyr534Ter) c.1554T>A (p.Tyr518Ter) c.945T>A (p.Tyr315Ter) n.2040T>A c.1596T>A (p.Tyr532Ter) c.1653T>A (p.Tyr551Ter) c.1692T>A (p.Tyr564Ter) c.1359T>A (p.Tyr453Ter) n.1932T>A n.1823T>A | gnomAD v4 |
1 | g.243426463T>C | CA1483770 | SDCCAG8 | c.1890T>C (p.Tyr630=) c.993T>C (p.Tyr331=) n.97T>C c.1761T>C (p.Tyr587=) c.1467T>C (p.Tyr489=) c.987T>C (p.Tyr329=) c.969T>C (p.Tyr323=) c.1920T>C (p.Tyr640=) c.1791T>C (p.Tyr597=) c.1731T>C (p.Tyr577=) c.2016T>C (p.Tyr672=) c.1986T>C (p.Tyr662=) c.1827T>C (p.Tyr609=) c.1779T>C (p.Tyr593=) c.1602T>C (p.Tyr534=) c.1554T>C (p.Tyr518=) c.945T>C (p.Tyr315=) n.2040T>C c.1596T>C (p.Tyr532=) c.1653T>C (p.Tyr551=) c.1692T>C (p.Tyr564=) c.1359T>C (p.Tyr453=) n.1932T>C n.1823T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.243426463T>G | CA345667718 | SDCCAG8 | c.1890T>G (p.Tyr630Ter) c.993T>G (p.Tyr331Ter) n.97T>G c.1761T>G (p.Tyr587Ter) c.1467T>G (p.Tyr489Ter) c.987T>G (p.Tyr329Ter) c.969T>G (p.Tyr323Ter) c.1920T>G (p.Tyr640Ter) c.1791T>G (p.Tyr597Ter) c.1731T>G (p.Tyr577Ter) c.2016T>G (p.Tyr672Ter) c.1986T>G (p.Tyr662Ter) c.1827T>G (p.Tyr609Ter) c.1779T>G (p.Tyr593Ter) c.1602T>G (p.Tyr534Ter) c.1554T>G (p.Tyr518Ter) c.945T>G (p.Tyr315Ter) n.2040T>G c.1596T>G (p.Tyr532Ter) c.1653T>G (p.Tyr551Ter) c.1692T>G (p.Tyr564Ter) c.1359T>G (p.Tyr453Ter) n.1932T>G n.1823T>G | |
1 | g.243426463T= | CA1230390597 | SDCCAG8 | c.1890T= (p.Tyr630=) c.993T= (p.Tyr331=) n.97T= c.1761T= (p.Tyr587=) c.1467T= (p.Tyr489=) c.987T= (p.Tyr329=) c.969T= (p.Tyr323=) c.1920T= (p.Tyr640=) c.1791T= (p.Tyr597=) c.1731T= (p.Tyr577=) c.2016T= (p.Tyr672=) c.1986T= (p.Tyr662=) c.1827T= (p.Tyr609=) c.1779T= (p.Tyr593=) c.1602T= (p.Tyr534=) c.1554T= (p.Tyr518=) c.945T= (p.Tyr315=) n.2040T= c.1596T= (p.Tyr532=) c.1653T= (p.Tyr551=) c.1692T= (p.Tyr564=) c.1359T= (p.Tyr453=) n.1932T= n.1823T= | |
1 | g.243426463dup | CA530248391 | SDCCAG8 | c.1890dup (p.Thr631TyrfsTer3) c.993dup (p.Thr332TyrfsTer3) n.97dup c.1761dup (p.Thr588TyrfsTer3) c.1467dup (p.Thr490TyrfsTer3) c.987dup (p.Thr330TyrfsTer3) c.969dup (p.Thr324TyrfsTer3) c.1920dup (p.Thr641TyrfsTer3) c.1791dup (p.Thr598TyrfsTer3) c.1731dup (p.Thr578TyrfsTer3) c.2016dup (p.Thr673TyrfsTer3) c.1986dup (p.Thr663TyrfsTer3) c.1827dup (p.Thr610TyrfsTer3) c.1779dup (p.Thr594TyrfsTer3) c.1602dup (p.Thr535TyrfsTer3) c.1554dup (p.Thr519TyrfsTer3) c.945dup (p.Thr316TyrfsTer3) n.2040dup c.1596dup (p.Thr533TyrfsTer3) c.1653dup (p.Thr552TyrfsTer3) c.1692dup (p.Thr565TyrfsTer3) c.1359dup (p.Thr454TyrfsTer3) n.1932dup n.1823dup | dbSNP gnomAD v2 gnomAD v4 |
1 | g.243426464A>C | CA345667719 | SDCCAG8 | c.1891A>C (p.Thr631Pro) c.994A>C (p.Thr332Pro) n.98A>C c.1762A>C (p.Thr588Pro) c.1468A>C (p.Thr490Pro) c.988A>C (p.Thr330Pro) c.970A>C (p.Thr324Pro) c.1921A>C (p.Thr641Pro) c.1792A>C (p.Thr598Pro) c.1732A>C (p.Thr578Pro) c.2017A>C (p.Thr673Pro) c.1987A>C (p.Thr663Pro) c.1828A>C (p.Thr610Pro) c.1780A>C (p.Thr594Pro) c.1603A>C (p.Thr535Pro) c.1555A>C (p.Thr519Pro) c.946A>C (p.Thr316Pro) n.2041A>C c.1597A>C (p.Thr533Pro) c.1654A>C (p.Thr552Pro) c.1693A>C (p.Thr565Pro) c.1360A>C (p.Thr454Pro) n.1933A>C n.1824A>C | |
1 | g.243426464A>G | CA345667721 | SDCCAG8 | c.1891A>G (p.Thr631Ala) c.994A>G (p.Thr332Ala) n.98A>G c.1762A>G (p.Thr588Ala) c.1468A>G (p.Thr490Ala) c.988A>G (p.Thr330Ala) c.970A>G (p.Thr324Ala) c.1921A>G (p.Thr641Ala) c.1792A>G (p.Thr598Ala) c.1732A>G (p.Thr578Ala) c.2017A>G (p.Thr673Ala) c.1987A>G (p.Thr663Ala) c.1828A>G (p.Thr610Ala) c.1780A>G (p.Thr594Ala) c.1603A>G (p.Thr535Ala) c.1555A>G (p.Thr519Ala) c.946A>G (p.Thr316Ala) n.2041A>G c.1597A>G (p.Thr533Ala) c.1654A>G (p.Thr552Ala) c.1693A>G (p.Thr565Ala) c.1360A>G (p.Thr454Ala) n.1933A>G n.1824A>G | |
1 | g.243426464A>T | CA345667720 | SDCCAG8 | c.1891A>T (p.Thr631Ser) c.994A>T (p.Thr332Ser) n.98A>T c.1762A>T (p.Thr588Ser) c.1468A>T (p.Thr490Ser) c.988A>T (p.Thr330Ser) c.970A>T (p.Thr324Ser) c.1921A>T (p.Thr641Ser) c.1792A>T (p.Thr598Ser) c.1732A>T (p.Thr578Ser) c.2017A>T (p.Thr673Ser) c.1987A>T (p.Thr663Ser) c.1828A>T (p.Thr610Ser) c.1780A>T (p.Thr594Ser) c.1603A>T (p.Thr535Ser) c.1555A>T (p.Thr519Ser) c.946A>T (p.Thr316Ser) n.2041A>T c.1597A>T (p.Thr533Ser) c.1654A>T (p.Thr552Ser) c.1693A>T (p.Thr565Ser) c.1360A>T (p.Thr454Ser) n.1933A>T n.1824A>T | |
1 | g.243426465C>A | CA345667722 | SDCCAG8 | c.1892C>A (p.Thr631Lys) c.995C>A (p.Thr332Lys) n.99C>A c.1763C>A (p.Thr588Lys) c.1469C>A (p.Thr490Lys) c.989C>A (p.Thr330Lys) c.971C>A (p.Thr324Lys) c.1922C>A (p.Thr641Lys) c.1793C>A (p.Thr598Lys) c.1733C>A (p.Thr578Lys) c.2018C>A (p.Thr673Lys) c.1988C>A (p.Thr663Lys) c.1829C>A (p.Thr610Lys) c.1781C>A (p.Thr594Lys) c.1604C>A (p.Thr535Lys) c.1556C>A (p.Thr519Lys) c.947C>A (p.Thr316Lys) n.2042C>A c.1598C>A (p.Thr533Lys) c.1655C>A (p.Thr552Lys) c.1694C>A (p.Thr565Lys) c.1361C>A (p.Thr454Lys) n.1934C>A n.1825C>A | |
1 | g.243426465C= | CA1147161298 | SDCCAG8 | c.1892C= (p.Thr631=) c.995C= (p.Thr332=) n.99C= c.1763C= (p.Thr588=) c.1469C= (p.Thr490=) c.989C= (p.Thr330=) c.971C= (p.Thr324=) c.1922C= (p.Thr641=) c.1793C= (p.Thr598=) c.1733C= (p.Thr578=) c.2018C= (p.Thr673=) c.1988C= (p.Thr663=) c.1829C= (p.Thr610=) c.1781C= (p.Thr594=) c.1604C= (p.Thr535=) c.1556C= (p.Thr519=) c.947C= (p.Thr316=) n.2042C= c.1598C= (p.Thr533=) c.1655C= (p.Thr552=) c.1694C= (p.Thr565=) c.1361C= (p.Thr454=) n.1934C= n.1825C= | |
1 | g.243426465C>G | CA345667723 | SDCCAG8 | c.1892C>G (p.Thr631Arg) c.995C>G (p.Thr332Arg) n.99C>G c.1763C>G (p.Thr588Arg) c.1469C>G (p.Thr490Arg) c.989C>G (p.Thr330Arg) c.971C>G (p.Thr324Arg) c.1922C>G (p.Thr641Arg) c.1793C>G (p.Thr598Arg) c.1733C>G (p.Thr578Arg) c.2018C>G (p.Thr673Arg) c.1988C>G (p.Thr663Arg) c.1829C>G (p.Thr610Arg) c.1781C>G (p.Thr594Arg) c.1604C>G (p.Thr535Arg) c.1556C>G (p.Thr519Arg) c.947C>G (p.Thr316Arg) n.2042C>G c.1598C>G (p.Thr533Arg) c.1655C>G (p.Thr552Arg) c.1694C>G (p.Thr565Arg) c.1361C>G (p.Thr454Arg) n.1934C>G n.1825C>G | |
1 | g.243426465C>T | CA1483771 | SDCCAG8 | c.1892C>T (p.Thr631Ile) c.995C>T (p.Thr332Ile) n.99C>T c.1763C>T (p.Thr588Ile) c.1469C>T (p.Thr490Ile) c.989C>T (p.Thr330Ile) c.971C>T (p.Thr324Ile) c.1922C>T (p.Thr641Ile) c.1793C>T (p.Thr598Ile) c.1733C>T (p.Thr578Ile) c.2018C>T (p.Thr673Ile) c.1988C>T (p.Thr663Ile) c.1829C>T (p.Thr610Ile) c.1781C>T (p.Thr594Ile) c.1604C>T (p.Thr535Ile) c.1556C>T (p.Thr519Ile) c.947C>T (p.Thr316Ile) n.2042C>T c.1598C>T (p.Thr533Ile) c.1655C>T (p.Thr552Ile) c.1694C>T (p.Thr565Ile) c.1361C>T (p.Thr454Ile) n.1934C>T n.1825C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.243426466A= | CA1230390598 | SDCCAG8 | c.1893A= (p.Thr631=) c.996A= (p.Thr332=) n.100A= c.1764A= (p.Thr588=) c.1470A= (p.Thr490=) c.990A= (p.Thr330=) c.972A= (p.Thr324=) c.1923A= (p.Thr641=) c.1794A= (p.Thr598=) c.1734A= (p.Thr578=) c.2019A= (p.Thr673=) c.1989A= (p.Thr663=) c.1830A= (p.Thr610=) c.1782A= (p.Thr594=) c.1605A= (p.Thr535=) c.1557A= (p.Thr519=) c.948A= (p.Thr316=) n.2043A= c.1599A= (p.Thr533=) c.1656A= (p.Thr552=) c.1695A= (p.Thr565=) c.1362A= (p.Thr454=) n.1935A= n.1826A= | |
1 | g.243426466A>C | CA424346858 | SDCCAG8 | c.1893A>C (p.Thr631=) c.996A>C (p.Thr332=) n.100A>C c.1764A>C (p.Thr588=) c.1470A>C (p.Thr490=) c.990A>C (p.Thr330=) c.972A>C (p.Thr324=) c.1923A>C (p.Thr641=) c.1794A>C (p.Thr598=) c.1734A>C (p.Thr578=) c.2019A>C (p.Thr673=) c.1989A>C (p.Thr663=) c.1830A>C (p.Thr610=) c.1782A>C (p.Thr594=) c.1605A>C (p.Thr535=) c.1557A>C (p.Thr519=) c.948A>C (p.Thr316=) n.2043A>C c.1599A>C (p.Thr533=) c.1656A>C (p.Thr552=) c.1695A>C (p.Thr565=) c.1362A>C (p.Thr454=) n.1935A>C n.1826A>C | |
1 | g.243426466A>G | CA1483772 | SDCCAG8 | c.1893A>G (p.Thr631=) c.996A>G (p.Thr332=) n.100A>G c.1764A>G (p.Thr588=) c.1470A>G (p.Thr490=) c.990A>G (p.Thr330=) c.972A>G (p.Thr324=) c.1923A>G (p.Thr641=) c.1794A>G (p.Thr598=) c.1734A>G (p.Thr578=) c.2019A>G (p.Thr673=) c.1989A>G (p.Thr663=) c.1830A>G (p.Thr610=) c.1782A>G (p.Thr594=) c.1605A>G (p.Thr535=) c.1557A>G (p.Thr519=) c.948A>G (p.Thr316=) n.2043A>G c.1599A>G (p.Thr533=) c.1656A>G (p.Thr552=) c.1695A>G (p.Thr565=) c.1362A>G (p.Thr454=) n.1935A>G n.1826A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.243426466A>T | CA424346859 | SDCCAG8 | c.1893A>T (p.Thr631=) c.996A>T (p.Thr332=) n.100A>T c.1764A>T (p.Thr588=) c.1470A>T (p.Thr490=) c.990A>T (p.Thr330=) c.972A>T (p.Thr324=) c.1923A>T (p.Thr641=) c.1794A>T (p.Thr598=) c.1734A>T (p.Thr578=) c.2019A>T (p.Thr673=) c.1989A>T (p.Thr663=) c.1830A>T (p.Thr610=) c.1782A>T (p.Thr594=) c.1605A>T (p.Thr535=) c.1557A>T (p.Thr519=) c.948A>T (p.Thr316=) n.2043A>T c.1599A>T (p.Thr533=) c.1656A>T (p.Thr552=) c.1695A>T (p.Thr565=) c.1362A>T (p.Thr454=) n.1935A>T n.1826A>T | |
1 | g.243426467T>A | CA345667724 | SDCCAG8 | c.1894T>A (p.Tyr632Asn) c.997T>A (p.Tyr333Asn) n.101T>A c.1765T>A (p.Tyr589Asn) c.1471T>A (p.Tyr491Asn) c.991T>A (p.Tyr331Asn) c.973T>A (p.Tyr325Asn) c.1924T>A (p.Tyr642Asn) c.1795T>A (p.Tyr599Asn) c.1735T>A (p.Tyr579Asn) c.2020T>A (p.Tyr674Asn) c.1990T>A (p.Tyr664Asn) c.1831T>A (p.Tyr611Asn) c.1783T>A (p.Tyr595Asn) c.1606T>A (p.Tyr536Asn) c.1558T>A (p.Tyr520Asn) c.949T>A (p.Tyr317Asn) n.2044T>A c.1600T>A (p.Tyr534Asn) c.1657T>A (p.Tyr553Asn) c.1696T>A (p.Tyr566Asn) c.1363T>A (p.Tyr455Asn) n.1936T>A n.1827T>A | |
1 | g.243426467T>C | CA345667726 | SDCCAG8 | c.1894T>C (p.Tyr632His) c.997T>C (p.Tyr333His) n.101T>C c.1765T>C (p.Tyr589His) c.1471T>C (p.Tyr491His) c.991T>C (p.Tyr331His) c.973T>C (p.Tyr325His) c.1924T>C (p.Tyr642His) c.1795T>C (p.Tyr599His) c.1735T>C (p.Tyr579His) c.2020T>C (p.Tyr674His) c.1990T>C (p.Tyr664His) c.1831T>C (p.Tyr611His) c.1783T>C (p.Tyr595His) c.1606T>C (p.Tyr536His) c.1558T>C (p.Tyr520His) c.949T>C (p.Tyr317His) n.2044T>C c.1600T>C (p.Tyr534His) c.1657T>C (p.Tyr553His) c.1696T>C (p.Tyr566His) c.1363T>C (p.Tyr455His) n.1936T>C n.1827T>C | |
1 | g.243426467T>G | CA345667725 | SDCCAG8 | c.1894T>G (p.Tyr632Asp) c.997T>G (p.Tyr333Asp) n.101T>G c.1765T>G (p.Tyr589Asp) c.1471T>G (p.Tyr491Asp) c.991T>G (p.Tyr331Asp) c.973T>G (p.Tyr325Asp) c.1924T>G (p.Tyr642Asp) c.1795T>G (p.Tyr599Asp) c.1735T>G (p.Tyr579Asp) c.2020T>G (p.Tyr674Asp) c.1990T>G (p.Tyr664Asp) c.1831T>G (p.Tyr611Asp) c.1783T>G (p.Tyr595Asp) c.1606T>G (p.Tyr536Asp) c.1558T>G (p.Tyr520Asp) c.949T>G (p.Tyr317Asp) n.2044T>G c.1600T>G (p.Tyr534Asp) c.1657T>G (p.Tyr553Asp) c.1696T>G (p.Tyr566Asp) c.1363T>G (p.Tyr455Asp) n.1936T>G n.1827T>G | |
1 | g.243426468A>C | CA345667727 | SDCCAG8 | c.1895A>C (p.Tyr632Ser) c.998A>C (p.Tyr333Ser) n.102A>C c.1766A>C (p.Tyr589Ser) c.1472A>C (p.Tyr491Ser) c.992A>C (p.Tyr331Ser) c.974A>C (p.Tyr325Ser) c.1925A>C (p.Tyr642Ser) c.1796A>C (p.Tyr599Ser) c.1736A>C (p.Tyr579Ser) c.2021A>C (p.Tyr674Ser) c.1991A>C (p.Tyr664Ser) c.1832A>C (p.Tyr611Ser) c.1784A>C (p.Tyr595Ser) c.1607A>C (p.Tyr536Ser) c.1559A>C (p.Tyr520Ser) c.950A>C (p.Tyr317Ser) n.2045A>C c.1601A>C (p.Tyr534Ser) c.1658A>C (p.Tyr553Ser) c.1697A>C (p.Tyr566Ser) c.1364A>C (p.Tyr455Ser) n.1937A>C n.1828A>C | |
1 | g.243426468A>G | CA345667728 | SDCCAG8 | c.1895A>G (p.Tyr632Cys) c.998A>G (p.Tyr333Cys) n.102A>G c.1766A>G (p.Tyr589Cys) c.1472A>G (p.Tyr491Cys) c.992A>G (p.Tyr331Cys) c.974A>G (p.Tyr325Cys) c.1925A>G (p.Tyr642Cys) c.1796A>G (p.Tyr599Cys) c.1736A>G (p.Tyr579Cys) c.2021A>G (p.Tyr674Cys) c.1991A>G (p.Tyr664Cys) c.1832A>G (p.Tyr611Cys) c.1784A>G (p.Tyr595Cys) c.1607A>G (p.Tyr536Cys) c.1559A>G (p.Tyr520Cys) c.950A>G (p.Tyr317Cys) n.2045A>G c.1601A>G (p.Tyr534Cys) c.1658A>G (p.Tyr553Cys) c.1697A>G (p.Tyr566Cys) c.1364A>G (p.Tyr455Cys) n.1937A>G n.1828A>G | |
1 | g.243426468A>T | CA345667729 | SDCCAG8 | c.1895A>T (p.Tyr632Phe) c.998A>T (p.Tyr333Phe) n.102A>T c.1766A>T (p.Tyr589Phe) c.1472A>T (p.Tyr491Phe) c.992A>T (p.Tyr331Phe) c.974A>T (p.Tyr325Phe) c.1925A>T (p.Tyr642Phe) c.1796A>T (p.Tyr599Phe) c.1736A>T (p.Tyr579Phe) c.2021A>T (p.Tyr674Phe) c.1991A>T (p.Tyr664Phe) c.1832A>T (p.Tyr611Phe) c.1784A>T (p.Tyr595Phe) c.1607A>T (p.Tyr536Phe) c.1559A>T (p.Tyr520Phe) c.950A>T (p.Tyr317Phe) n.2045A>T c.1601A>T (p.Tyr534Phe) c.1658A>T (p.Tyr553Phe) c.1697A>T (p.Tyr566Phe) c.1364A>T (p.Tyr455Phe) n.1937A>T n.1828A>T | |
1 | g.243426469T>A | CA345667730 | SDCCAG8 | c.1896T>A (p.Tyr632Ter) c.999T>A (p.Tyr333Ter) n.103T>A c.1767T>A (p.Tyr589Ter) c.1473T>A (p.Tyr491Ter) c.993T>A (p.Tyr331Ter) c.975T>A (p.Tyr325Ter) c.1926T>A (p.Tyr642Ter) c.1797T>A (p.Tyr599Ter) c.1737T>A (p.Tyr579Ter) c.2022T>A (p.Tyr674Ter) c.1992T>A (p.Tyr664Ter) c.1833T>A (p.Tyr611Ter) c.1785T>A (p.Tyr595Ter) c.1608T>A (p.Tyr536Ter) c.1560T>A (p.Tyr520Ter) c.951T>A (p.Tyr317Ter) n.2046T>A c.1602T>A (p.Tyr534Ter) c.1659T>A (p.Tyr553Ter) c.1698T>A (p.Tyr566Ter) c.1365T>A (p.Tyr455Ter) n.1938T>A n.1829T>A | |
1 | g.243426469T>C | CA1483773 | SDCCAG8 | c.1896T>C (p.Tyr632=) c.999T>C (p.Tyr333=) n.103T>C c.1767T>C (p.Tyr589=) c.1473T>C (p.Tyr491=) c.993T>C (p.Tyr331=) c.975T>C (p.Tyr325=) c.1926T>C (p.Tyr642=) c.1797T>C (p.Tyr599=) c.1737T>C (p.Tyr579=) c.2022T>C (p.Tyr674=) c.1992T>C (p.Tyr664=) c.1833T>C (p.Tyr611=) c.1785T>C (p.Tyr595=) c.1608T>C (p.Tyr536=) c.1560T>C (p.Tyr520=) c.951T>C (p.Tyr317=) n.2046T>C c.1602T>C (p.Tyr534=) c.1659T>C (p.Tyr553=) c.1698T>C (p.Tyr566=) c.1365T>C (p.Tyr455=) n.1938T>C n.1829T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.243426469T>G | CA345667731 | SDCCAG8 | c.1896T>G (p.Tyr632Ter) c.999T>G (p.Tyr333Ter) n.103T>G c.1767T>G (p.Tyr589Ter) c.1473T>G (p.Tyr491Ter) c.993T>G (p.Tyr331Ter) c.975T>G (p.Tyr325Ter) c.1926T>G (p.Tyr642Ter) c.1797T>G (p.Tyr599Ter) c.1737T>G (p.Tyr579Ter) c.2022T>G (p.Tyr674Ter) c.1992T>G (p.Tyr664Ter) c.1833T>G (p.Tyr611Ter) c.1785T>G (p.Tyr595Ter) c.1608T>G (p.Tyr536Ter) c.1560T>G (p.Tyr520Ter) c.951T>G (p.Tyr317Ter) n.2046T>G c.1602T>G (p.Tyr534Ter) c.1659T>G (p.Tyr553Ter) c.1698T>G (p.Tyr566Ter) c.1365T>G (p.Tyr455Ter) n.1938T>G n.1829T>G | |
1 | g.243426469T= | CA1230390599 | SDCCAG8 | c.1896T= (p.Tyr632=) c.999T= (p.Tyr333=) n.103T= c.1767T= (p.Tyr589=) c.1473T= (p.Tyr491=) c.993T= (p.Tyr331=) c.975T= (p.Tyr325=) c.1926T= (p.Tyr642=) c.1797T= (p.Tyr599=) c.1737T= (p.Tyr579=) c.2022T= (p.Tyr674=) c.1992T= (p.Tyr664=) c.1833T= (p.Tyr611=) c.1785T= (p.Tyr595=) c.1608T= (p.Tyr536=) c.1560T= (p.Tyr520=) c.951T= (p.Tyr317=) n.2046T= c.1602T= (p.Tyr534=) c.1659T= (p.Tyr553=) c.1698T= (p.Tyr566=) c.1365T= (p.Tyr455=) n.1938T= n.1829T= | |
1 | g.243426470G>A | CA345667734 | SDCCAG8 | c.1897G>A (p.Asp633Asn) c.1000G>A (p.Asp334Asn) n.104G>A c.1768G>A (p.Asp590Asn) c.1474G>A (p.Asp492Asn) c.994G>A (p.Asp332Asn) c.976G>A (p.Asp326Asn) c.1927G>A (p.Asp643Asn) c.1798G>A (p.Asp600Asn) c.1738G>A (p.Asp580Asn) c.2023G>A (p.Asp675Asn) c.1993G>A (p.Asp665Asn) c.1834G>A (p.Asp612Asn) c.1786G>A (p.Asp596Asn) c.1609G>A (p.Asp537Asn) c.1561G>A (p.Asp521Asn) c.952G>A (p.Asp318Asn) n.2047G>A c.1603G>A (p.Asp535Asn) c.1660G>A (p.Asp554Asn) c.1699G>A (p.Asp567Asn) c.1366G>A (p.Asp456Asn) n.1939G>A n.1830G>A | gnomAD v4 |
1 | g.243426470G>C | CA345667732 | SDCCAG8 | c.1897G>C (p.Asp633His) c.1000G>C (p.Asp334His) n.104G>C c.1768G>C (p.Asp590His) c.1474G>C (p.Asp492His) c.994G>C (p.Asp332His) c.976G>C (p.Asp326His) c.1927G>C (p.Asp643His) c.1798G>C (p.Asp600His) c.1738G>C (p.Asp580His) c.2023G>C (p.Asp675His) c.1993G>C (p.Asp665His) c.1834G>C (p.Asp612His) c.1786G>C (p.Asp596His) c.1609G>C (p.Asp537His) c.1561G>C (p.Asp521His) c.952G>C (p.Asp318His) n.2047G>C c.1603G>C (p.Asp535His) c.1660G>C (p.Asp554His) c.1699G>C (p.Asp567His) c.1366G>C (p.Asp456His) n.1939G>C n.1830G>C | |
1 | g.243426470G>T | CA345667733 | SDCCAG8 | c.1897G>T (p.Asp633Tyr) c.1000G>T (p.Asp334Tyr) n.104G>T c.1768G>T (p.Asp590Tyr) c.1474G>T (p.Asp492Tyr) c.994G>T (p.Asp332Tyr) c.976G>T (p.Asp326Tyr) c.1927G>T (p.Asp643Tyr) c.1798G>T (p.Asp600Tyr) c.1738G>T (p.Asp580Tyr) c.2023G>T (p.Asp675Tyr) c.1993G>T (p.Asp665Tyr) c.1834G>T (p.Asp612Tyr) c.1786G>T (p.Asp596Tyr) c.1609G>T (p.Asp537Tyr) c.1561G>T (p.Asp521Tyr) c.952G>T (p.Asp318Tyr) n.2047G>T c.1603G>T (p.Asp535Tyr) c.1660G>T (p.Asp554Tyr) c.1699G>T (p.Asp567Tyr) c.1366G>T (p.Asp456Tyr) n.1939G>T n.1830G>T | |
1 | g.243426471A= | CA1230390600 | SDCCAG8 | c.1898A= (p.Asp633=) c.1001A= (p.Asp334=) n.105A= c.1769A= (p.Asp590=) c.1475A= (p.Asp492=) c.995A= (p.Asp332=) c.977A= (p.Asp326=) c.1928A= (p.Asp643=) c.1799A= (p.Asp600=) c.1739A= (p.Asp580=) c.2024A= (p.Asp675=) c.1994A= (p.Asp665=) c.1835A= (p.Asp612=) c.1787A= (p.Asp596=) c.1610A= (p.Asp537=) c.1562A= (p.Asp521=) c.953A= (p.Asp318=) n.2048A= c.1604A= (p.Asp535=) c.1661A= (p.Asp554=) c.1700A= (p.Asp567=) c.1367A= (p.Asp456=) n.1940A= n.1831A= | |
1 | g.243426471A>C | CA345667735 | SDCCAG8 | c.1898A>C (p.Asp633Ala) c.1001A>C (p.Asp334Ala) n.105A>C c.1769A>C (p.Asp590Ala) c.1475A>C (p.Asp492Ala) c.995A>C (p.Asp332Ala) c.977A>C (p.Asp326Ala) c.1928A>C (p.Asp643Ala) c.1799A>C (p.Asp600Ala) c.1739A>C (p.Asp580Ala) c.2024A>C (p.Asp675Ala) c.1994A>C (p.Asp665Ala) c.1835A>C (p.Asp612Ala) c.1787A>C (p.Asp596Ala) c.1610A>C (p.Asp537Ala) c.1562A>C (p.Asp521Ala) c.953A>C (p.Asp318Ala) n.2048A>C c.1604A>C (p.Asp535Ala) c.1661A>C (p.Asp554Ala) c.1700A>C (p.Asp567Ala) c.1367A>C (p.Asp456Ala) n.1940A>C n.1831A>C | |
1 | g.243426471A>G | CA345667736 | SDCCAG8 | c.1898A>G (p.Asp633Gly) c.1001A>G (p.Asp334Gly) n.105A>G c.1769A>G (p.Asp590Gly) c.1475A>G (p.Asp492Gly) c.995A>G (p.Asp332Gly) c.977A>G (p.Asp326Gly) c.1928A>G (p.Asp643Gly) c.1799A>G (p.Asp600Gly) c.1739A>G (p.Asp580Gly) c.2024A>G (p.Asp675Gly) c.1994A>G (p.Asp665Gly) c.1835A>G (p.Asp612Gly) c.1787A>G (p.Asp596Gly) c.1610A>G (p.Asp537Gly) c.1562A>G (p.Asp521Gly) c.953A>G (p.Asp318Gly) n.2048A>G c.1604A>G (p.Asp535Gly) c.1661A>G (p.Asp554Gly) c.1700A>G (p.Asp567Gly) c.1367A>G (p.Asp456Gly) n.1940A>G n.1831A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.243426471A>T | CA345667737 | SDCCAG8 | c.1898A>T (p.Asp633Val) c.1001A>T (p.Asp334Val) n.105A>T c.1769A>T (p.Asp590Val) c.1475A>T (p.Asp492Val) c.995A>T (p.Asp332Val) c.977A>T (p.Asp326Val) c.1928A>T (p.Asp643Val) c.1799A>T (p.Asp600Val) c.1739A>T (p.Asp580Val) c.2024A>T (p.Asp675Val) c.1994A>T (p.Asp665Val) c.1835A>T (p.Asp612Val) c.1787A>T (p.Asp596Val) c.1610A>T (p.Asp537Val) c.1562A>T (p.Asp521Val) c.953A>T (p.Asp318Val) n.2048A>T c.1604A>T (p.Asp535Val) c.1661A>T (p.Asp554Val) c.1700A>T (p.Asp567Val) c.1367A>T (p.Asp456Val) n.1940A>T n.1831A>T | |
1 | g.243426472T>A | CA41009606 | SDCCAG8 | c.1899T>A (p.Asp633Glu) c.1002T>A (p.Asp334Glu) n.106T>A c.1770T>A (p.Asp590Glu) c.1476T>A (p.Asp492Glu) c.996T>A (p.Asp332Glu) c.978T>A (p.Asp326Glu) c.1929T>A (p.Asp643Glu) c.1800T>A (p.Asp600Glu) c.1740T>A (p.Asp580Glu) c.2025T>A (p.Asp675Glu) c.1995T>A (p.Asp665Glu) c.1836T>A (p.Asp612Glu) c.1788T>A (p.Asp596Glu) c.1611T>A (p.Asp537Glu) c.1563T>A (p.Asp521Glu) c.954T>A (p.Asp318Glu) n.2049T>A c.1605T>A (p.Asp535Glu) c.1662T>A (p.Asp554Glu) c.1701T>A (p.Asp567Glu) c.1368T>A (p.Asp456Glu) n.1941T>A n.1832T>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.243426472T>C | CA424346860 | SDCCAG8 | c.1899T>C (p.Asp633=) c.1002T>C (p.Asp334=) n.106T>C c.1770T>C (p.Asp590=) c.1476T>C (p.Asp492=) c.996T>C (p.Asp332=) c.978T>C (p.Asp326=) c.1929T>C (p.Asp643=) c.1800T>C (p.Asp600=) c.1740T>C (p.Asp580=) c.2025T>C (p.Asp675=) c.1995T>C (p.Asp665=) c.1836T>C (p.Asp612=) c.1788T>C (p.Asp596=) c.1611T>C (p.Asp537=) c.1563T>C (p.Asp521=) c.954T>C (p.Asp318=) n.2049T>C c.1605T>C (p.Asp535=) c.1662T>C (p.Asp554=) c.1701T>C (p.Asp567=) c.1368T>C (p.Asp456=) n.1941T>C n.1832T>C | |
1 | g.243426472T>G | CA345667738 | SDCCAG8 | c.1899T>G (p.Asp633Glu) c.1002T>G (p.Asp334Glu) n.106T>G c.1770T>G (p.Asp590Glu) c.1476T>G (p.Asp492Glu) c.996T>G (p.Asp332Glu) c.978T>G (p.Asp326Glu) c.1929T>G (p.Asp643Glu) c.1800T>G (p.Asp600Glu) c.1740T>G (p.Asp580Glu) c.2025T>G (p.Asp675Glu) c.1995T>G (p.Asp665Glu) c.1836T>G (p.Asp612Glu) c.1788T>G (p.Asp596Glu) c.1611T>G (p.Asp537Glu) c.1563T>G (p.Asp521Glu) c.954T>G (p.Asp318Glu) n.2049T>G c.1605T>G (p.Asp535Glu) c.1662T>G (p.Asp554Glu) c.1701T>G (p.Asp567Glu) c.1368T>G (p.Asp456Glu) n.1941T>G n.1832T>G | |
1 | g.243426472T= | CA1230390601 | SDCCAG8 | c.1899T= (p.Asp633=) c.1002T= (p.Asp334=) n.106T= c.1770T= (p.Asp590=) c.1476T= (p.Asp492=) c.996T= (p.Asp332=) c.978T= (p.Asp326=) c.1929T= (p.Asp643=) c.1800T= (p.Asp600=) c.1740T= (p.Asp580=) c.2025T= (p.Asp675=) c.1995T= (p.Asp665=) c.1836T= (p.Asp612=) c.1788T= (p.Asp596=) c.1611T= (p.Asp537=) c.1563T= (p.Asp521=) c.954T= (p.Asp318=) n.2049T= c.1605T= (p.Asp535=) c.1662T= (p.Asp554=) c.1701T= (p.Asp567=) c.1368T= (p.Asp456=) n.1941T= n.1832T= | |
1 | g.243426473A= | CA1230390602 | SDCCAG8 | c.1900A= (p.Lys634=) c.1003A= (p.Lys335=) n.107A= c.1771A= (p.Lys591=) c.1477A= (p.Lys493=) c.997A= (p.Lys333=) c.979A= (p.Lys327=) c.1930A= (p.Lys644=) c.1801A= (p.Lys601=) c.1741A= (p.Lys581=) c.2026A= (p.Lys676=) c.1996A= (p.Lys666=) c.1837A= (p.Lys613=) c.1789A= (p.Lys597=) c.1612A= (p.Lys538=) c.1564A= (p.Lys522=) c.955A= (p.Lys319=) n.2050A= c.1606A= (p.Lys536=) c.1663A= (p.Lys555=) c.1702A= (p.Lys568=) c.1369A= (p.Lys457=) n.1942A= n.1833A= | |
1 | g.243426473A>C | CA345667741 | SDCCAG8 | c.1900A>C (p.Lys634Gln) c.1003A>C (p.Lys335Gln) n.107A>C c.1771A>C (p.Lys591Gln) c.1477A>C (p.Lys493Gln) c.997A>C (p.Lys333Gln) c.979A>C (p.Lys327Gln) c.1930A>C (p.Lys644Gln) c.1801A>C (p.Lys601Gln) c.1741A>C (p.Lys581Gln) c.2026A>C (p.Lys676Gln) c.1996A>C (p.Lys666Gln) c.1837A>C (p.Lys613Gln) c.1789A>C (p.Lys597Gln) c.1612A>C (p.Lys538Gln) c.1564A>C (p.Lys522Gln) c.955A>C (p.Lys319Gln) n.2050A>C c.1606A>C (p.Lys536Gln) c.1663A>C (p.Lys555Gln) c.1702A>C (p.Lys568Gln) c.1369A>C (p.Lys457Gln) n.1942A>C n.1833A>C | |
1 | g.243426473A>G | CA345667739 | SDCCAG8 | c.1900A>G (p.Lys634Glu) c.1003A>G (p.Lys335Glu) n.107A>G c.1771A>G (p.Lys591Glu) c.1477A>G (p.Lys493Glu) c.997A>G (p.Lys333Glu) c.979A>G (p.Lys327Glu) c.1930A>G (p.Lys644Glu) c.1801A>G (p.Lys601Glu) c.1741A>G (p.Lys581Glu) c.2026A>G (p.Lys676Glu) c.1996A>G (p.Lys666Glu) c.1837A>G (p.Lys613Glu) c.1789A>G (p.Lys597Glu) c.1612A>G (p.Lys538Glu) c.1564A>G (p.Lys522Glu) c.955A>G (p.Lys319Glu) n.2050A>G c.1606A>G (p.Lys536Glu) c.1663A>G (p.Lys555Glu) c.1702A>G (p.Lys568Glu) c.1369A>G (p.Lys457Glu) n.1942A>G n.1833A>G | dbSNP gnomAD v2 |
1 | g.243426473A>T | CA345667740 | SDCCAG8 | c.1900A>T (p.Lys634Ter) c.1003A>T (p.Lys335Ter) n.107A>T c.1771A>T (p.Lys591Ter) c.1477A>T (p.Lys493Ter) c.997A>T (p.Lys333Ter) c.979A>T (p.Lys327Ter) c.1930A>T (p.Lys644Ter) c.1801A>T (p.Lys601Ter) c.1741A>T (p.Lys581Ter) c.2026A>T (p.Lys676Ter) c.1996A>T (p.Lys666Ter) c.1837A>T (p.Lys613Ter) c.1789A>T (p.Lys597Ter) c.1612A>T (p.Lys538Ter) c.1564A>T (p.Lys522Ter) c.955A>T (p.Lys319Ter) n.2050A>T c.1606A>T (p.Lys536Ter) c.1663A>T (p.Lys555Ter) c.1702A>T (p.Lys568Ter) c.1369A>T (p.Lys457Ter) n.1942A>T n.1833A>T | |
1 | g.243426474A>C | CA345667742 | SDCCAG8 | c.1901A>C (p.Lys634Thr) c.1004A>C (p.Lys335Thr) n.108A>C c.1772A>C (p.Lys591Thr) c.1478A>C (p.Lys493Thr) c.998A>C (p.Lys333Thr) c.980A>C (p.Lys327Thr) c.1931A>C (p.Lys644Thr) c.1802A>C (p.Lys601Thr) c.1742A>C (p.Lys581Thr) c.2027A>C (p.Lys676Thr) c.1997A>C (p.Lys666Thr) c.1838A>C (p.Lys613Thr) c.1790A>C (p.Lys597Thr) c.1613A>C (p.Lys538Thr) c.1565A>C (p.Lys522Thr) c.956A>C (p.Lys319Thr) n.2051A>C c.1607A>C (p.Lys536Thr) c.1664A>C (p.Lys555Thr) c.1703A>C (p.Lys568Thr) c.1370A>C (p.Lys457Thr) n.1943A>C n.1834A>C | |
1 | g.243426474A>G | CA345667743 | SDCCAG8 | c.1901A>G (p.Lys634Arg) c.1004A>G (p.Lys335Arg) n.108A>G c.1772A>G (p.Lys591Arg) c.1478A>G (p.Lys493Arg) c.998A>G (p.Lys333Arg) c.980A>G (p.Lys327Arg) c.1931A>G (p.Lys644Arg) c.1802A>G (p.Lys601Arg) c.1742A>G (p.Lys581Arg) c.2027A>G (p.Lys676Arg) c.1997A>G (p.Lys666Arg) c.1838A>G (p.Lys613Arg) c.1790A>G (p.Lys597Arg) c.1613A>G (p.Lys538Arg) c.1565A>G (p.Lys522Arg) c.956A>G (p.Lys319Arg) n.2051A>G c.1607A>G (p.Lys536Arg) c.1664A>G (p.Lys555Arg) c.1703A>G (p.Lys568Arg) c.1370A>G (p.Lys457Arg) n.1943A>G n.1834A>G | |
1 | g.243426474A>T | CA345667744 | SDCCAG8 | c.1901A>T (p.Lys634Ile) c.1004A>T (p.Lys335Ile) n.108A>T c.1772A>T (p.Lys591Ile) c.1478A>T (p.Lys493Ile) c.998A>T (p.Lys333Ile) c.980A>T (p.Lys327Ile) c.1931A>T (p.Lys644Ile) c.1802A>T (p.Lys601Ile) c.1742A>T (p.Lys581Ile) c.2027A>T (p.Lys676Ile) c.1997A>T (p.Lys666Ile) c.1838A>T (p.Lys613Ile) c.1790A>T (p.Lys597Ile) c.1613A>T (p.Lys538Ile) c.1565A>T (p.Lys522Ile) c.956A>T (p.Lys319Ile) n.2051A>T c.1607A>T (p.Lys536Ile) c.1664A>T (p.Lys555Ile) c.1703A>T (p.Lys568Ile) c.1370A>T (p.Lys457Ile) n.1943A>T n.1834A>T | |
1 | g.243426475A>C | CA345667745 | SDCCAG8 | c.1902A>C (p.Lys634Asn) c.1005A>C (p.Lys335Asn) n.109A>C c.1773A>C (p.Lys591Asn) c.1479A>C (p.Lys493Asn) c.999A>C (p.Lys333Asn) c.981A>C (p.Lys327Asn) c.1932A>C (p.Lys644Asn) c.1803A>C (p.Lys601Asn) c.1743A>C (p.Lys581Asn) c.2028A>C (p.Lys676Asn) c.1998A>C (p.Lys666Asn) c.1839A>C (p.Lys613Asn) c.1791A>C (p.Lys597Asn) c.1614A>C (p.Lys538Asn) c.1566A>C (p.Lys522Asn) c.957A>C (p.Lys319Asn) n.2052A>C c.1608A>C (p.Lys536Asn) c.1665A>C (p.Lys555Asn) c.1704A>C (p.Lys568Asn) c.1371A>C (p.Lys457Asn) n.1944A>C n.1835A>C | |
1 | g.243426475A>G | CA424346861 | SDCCAG8 | c.1902A>G (p.Lys634=) c.1005A>G (p.Lys335=) n.109A>G c.1773A>G (p.Lys591=) c.1479A>G (p.Lys493=) c.999A>G (p.Lys333=) c.981A>G (p.Lys327=) c.1932A>G (p.Lys644=) c.1803A>G (p.Lys601=) c.1743A>G (p.Lys581=) c.2028A>G (p.Lys676=) c.1998A>G (p.Lys666=) c.1839A>G (p.Lys613=) c.1791A>G (p.Lys597=) c.1614A>G (p.Lys538=) c.1566A>G (p.Lys522=) c.957A>G (p.Lys319=) n.2052A>G c.1608A>G (p.Lys536=) c.1665A>G (p.Lys555=) c.1704A>G (p.Lys568=) c.1371A>G (p.Lys457=) n.1944A>G n.1835A>G | |
1 | g.243426475A>T | CA345667746 | SDCCAG8 | c.1902A>T (p.Lys634Asn) c.1005A>T (p.Lys335Asn) n.109A>T c.1773A>T (p.Lys591Asn) c.1479A>T (p.Lys493Asn) c.999A>T (p.Lys333Asn) c.981A>T (p.Lys327Asn) c.1932A>T (p.Lys644Asn) c.1803A>T (p.Lys601Asn) c.1743A>T (p.Lys581Asn) c.2028A>T (p.Lys676Asn) c.1998A>T (p.Lys666Asn) c.1839A>T (p.Lys613Asn) c.1791A>T (p.Lys597Asn) c.1614A>T (p.Lys538Asn) c.1566A>T (p.Lys522Asn) c.957A>T (p.Lys319Asn) n.2052A>T c.1608A>T (p.Lys536Asn) c.1665A>T (p.Lys555Asn) c.1704A>T (p.Lys568Asn) c.1371A>T (p.Lys457Asn) n.1944A>T n.1835A>T | |
1 | g.243426476T>A | CA345667747 | SDCCAG8 | c.1903T>A (p.Leu635Met) c.1006T>A (p.Leu336Met) n.110T>A c.1774T>A (p.Leu592Met) c.1480T>A (p.Leu494Met) c.1000T>A (p.Leu334Met) c.982T>A (p.Leu328Met) c.1933T>A (p.Leu645Met) c.1804T>A (p.Leu602Met) c.1744T>A (p.Leu582Met) c.2029T>A (p.Leu677Met) c.1999T>A (p.Leu667Met) c.1840T>A (p.Leu614Met) c.1792T>A (p.Leu598Met) c.1615T>A (p.Leu539Met) c.1567T>A (p.Leu523Met) c.958T>A (p.Leu320Met) n.2053T>A c.1609T>A (p.Leu537Met) c.1666T>A (p.Leu556Met) c.1705T>A (p.Leu569Met) c.1372T>A (p.Leu458Met) n.1945T>A n.1836T>A | |
1 | g.243426476T>C | CA1483774 | SDCCAG8 | c.1903T>C (p.Leu635=) c.1006T>C (p.Leu336=) n.110T>C c.1774T>C (p.Leu592=) c.1480T>C (p.Leu494=) c.1000T>C (p.Leu334=) c.982T>C (p.Leu328=) c.1933T>C (p.Leu645=) c.1804T>C (p.Leu602=) c.1744T>C (p.Leu582=) c.2029T>C (p.Leu677=) c.1999T>C (p.Leu667=) c.1840T>C (p.Leu614=) c.1792T>C (p.Leu598=) c.1615T>C (p.Leu539=) c.1567T>C (p.Leu523=) c.958T>C (p.Leu320=) n.2053T>C c.1609T>C (p.Leu537=) c.1666T>C (p.Leu556=) c.1705T>C (p.Leu569=) c.1372T>C (p.Leu458=) n.1945T>C n.1836T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.243426476T>G | CA345667748 | SDCCAG8 | c.1903T>G (p.Leu635Val) c.1006T>G (p.Leu336Val) n.110T>G c.1774T>G (p.Leu592Val) c.1480T>G (p.Leu494Val) c.1000T>G (p.Leu334Val) c.982T>G (p.Leu328Val) c.1933T>G (p.Leu645Val) c.1804T>G (p.Leu602Val) c.1744T>G (p.Leu582Val) c.2029T>G (p.Leu677Val) c.1999T>G (p.Leu667Val) c.1840T>G (p.Leu614Val) c.1792T>G (p.Leu598Val) c.1615T>G (p.Leu539Val) c.1567T>G (p.Leu523Val) c.958T>G (p.Leu320Val) n.2053T>G c.1609T>G (p.Leu537Val) c.1666T>G (p.Leu556Val) c.1705T>G (p.Leu569Val) c.1372T>G (p.Leu458Val) n.1945T>G n.1836T>G | gnomAD v4 |
1 | g.243426476T= | CA1230390603 | SDCCAG8 | c.1903T= (p.Leu635=) c.1006T= (p.Leu336=) n.110T= c.1774T= (p.Leu592=) c.1480T= (p.Leu494=) c.1000T= (p.Leu334=) c.982T= (p.Leu328=) c.1933T= (p.Leu645=) c.1804T= (p.Leu602=) c.1744T= (p.Leu582=) c.2029T= (p.Leu677=) c.1999T= (p.Leu667=) c.1840T= (p.Leu614=) c.1792T= (p.Leu598=) c.1615T= (p.Leu539=) c.1567T= (p.Leu523=) c.958T= (p.Leu320=) n.2053T= c.1609T= (p.Leu537=) c.1666T= (p.Leu556=) c.1705T= (p.Leu569=) c.1372T= (p.Leu458=) n.1945T= n.1836T= | |
1 | g.243426477T>A | CA345667749 | SDCCAG8 | c.1904T>A (p.Leu635Ter) c.1007T>A (p.Leu336Ter) n.111T>A c.1775T>A (p.Leu592Ter) c.1481T>A (p.Leu494Ter) c.1001T>A (p.Leu334Ter) c.983T>A (p.Leu328Ter) c.1934T>A (p.Leu645Ter) c.1805T>A (p.Leu602Ter) c.1745T>A (p.Leu582Ter) c.2030T>A (p.Leu677Ter) c.2000T>A (p.Leu667Ter) c.1841T>A (p.Leu614Ter) c.1793T>A (p.Leu598Ter) c.1616T>A (p.Leu539Ter) c.1568T>A (p.Leu523Ter) c.959T>A (p.Leu320Ter) n.2054T>A c.1610T>A (p.Leu537Ter) c.1667T>A (p.Leu556Ter) c.1706T>A (p.Leu569Ter) c.1373T>A (p.Leu458Ter) n.1946T>A n.1837T>A | |
1 | g.243426477T>C | CA345667750 | SDCCAG8 | c.1904T>C (p.Leu635Ser) c.1007T>C (p.Leu336Ser) n.111T>C c.1775T>C (p.Leu592Ser) c.1481T>C (p.Leu494Ser) c.1001T>C (p.Leu334Ser) c.983T>C (p.Leu328Ser) c.1934T>C (p.Leu645Ser) c.1805T>C (p.Leu602Ser) c.1745T>C (p.Leu582Ser) c.2030T>C (p.Leu677Ser) c.2000T>C (p.Leu667Ser) c.1841T>C (p.Leu614Ser) c.1793T>C (p.Leu598Ser) c.1616T>C (p.Leu539Ser) c.1568T>C (p.Leu523Ser) c.959T>C (p.Leu320Ser) n.2054T>C c.1610T>C (p.Leu537Ser) c.1667T>C (p.Leu556Ser) c.1706T>C (p.Leu569Ser) c.1373T>C (p.Leu458Ser) n.1946T>C n.1837T>C | |
1 | g.243426477T>G | CA345667751 | SDCCAG8 | c.1904T>G (p.Leu635Trp) c.1007T>G (p.Leu336Trp) n.111T>G c.1775T>G (p.Leu592Trp) c.1481T>G (p.Leu494Trp) c.1001T>G (p.Leu334Trp) c.983T>G (p.Leu328Trp) c.1934T>G (p.Leu645Trp) c.1805T>G (p.Leu602Trp) c.1745T>G (p.Leu582Trp) c.2030T>G (p.Leu677Trp) c.2000T>G (p.Leu667Trp) c.1841T>G (p.Leu614Trp) c.1793T>G (p.Leu598Trp) c.1616T>G (p.Leu539Trp) c.1568T>G (p.Leu523Trp) c.959T>G (p.Leu320Trp) n.2054T>G c.1610T>G (p.Leu537Trp) c.1667T>G (p.Leu556Trp) c.1706T>G (p.Leu569Trp) c.1373T>G (p.Leu458Trp) n.1946T>G n.1837T>G | dbSNP gnomAD v4 |
1 | g.243426477T= | CA1230390604 | SDCCAG8 | c.1904T= (p.Leu635=) c.1007T= (p.Leu336=) n.111T= c.1775T= (p.Leu592=) c.1481T= (p.Leu494=) c.1001T= (p.Leu334=) c.983T= (p.Leu328=) c.1934T= (p.Leu645=) c.1805T= (p.Leu602=) c.1745T= (p.Leu582=) c.2030T= (p.Leu677=) c.2000T= (p.Leu667=) c.1841T= (p.Leu614=) c.1793T= (p.Leu598=) c.1616T= (p.Leu539=) c.1568T= (p.Leu523=) c.959T= (p.Leu320=) n.2054T= c.1610T= (p.Leu537=) c.1667T= (p.Leu556=) c.1706T= (p.Leu569=) c.1373T= (p.Leu458=) n.1946T= n.1837T= | |
1 | g.243426478G>A | CA424346862 | SDCCAG8 | c.1905G>A (p.Leu635=) c.1008G>A (p.Leu336=) n.112G>A c.1776G>A (p.Leu592=) c.1482G>A (p.Leu494=) c.1002G>A (p.Leu334=) c.984G>A (p.Leu328=) c.1935G>A (p.Leu645=) c.1806G>A (p.Leu602=) c.1746G>A (p.Leu582=) c.2031G>A (p.Leu677=) c.2001G>A (p.Leu667=) c.1842G>A (p.Leu614=) c.1794G>A (p.Leu598=) c.1617G>A (p.Leu539=) c.1569G>A (p.Leu523=) c.960G>A (p.Leu320=) n.2055G>A c.1611G>A (p.Leu537=) c.1668G>A (p.Leu556=) c.1707G>A (p.Leu569=) c.1374G>A (p.Leu458=) n.1947G>A n.1838G>A | gnomAD v4 |
1 | g.243426478G>C | CA345667752 | SDCCAG8 | c.1905G>C (p.Leu635Phe) c.1008G>C (p.Leu336Phe) n.112G>C c.1776G>C (p.Leu592Phe) c.1482G>C (p.Leu494Phe) c.1002G>C (p.Leu334Phe) c.984G>C (p.Leu328Phe) c.1935G>C (p.Leu645Phe) c.1806G>C (p.Leu602Phe) c.1746G>C (p.Leu582Phe) c.2031G>C (p.Leu677Phe) c.2001G>C (p.Leu667Phe) c.1842G>C (p.Leu614Phe) c.1794G>C (p.Leu598Phe) c.1617G>C (p.Leu539Phe) c.1569G>C (p.Leu523Phe) c.960G>C (p.Leu320Phe) n.2055G>C c.1611G>C (p.Leu537Phe) c.1668G>C (p.Leu556Phe) c.1707G>C (p.Leu569Phe) c.1374G>C (p.Leu458Phe) n.1947G>C n.1838G>C | |
1 | g.243426478G>T | CA345667753 | SDCCAG8 | c.1905G>T (p.Leu635Phe) c.1008G>T (p.Leu336Phe) n.112G>T c.1776G>T (p.Leu592Phe) c.1482G>T (p.Leu494Phe) c.1002G>T (p.Leu334Phe) c.984G>T (p.Leu328Phe) c.1935G>T (p.Leu645Phe) c.1806G>T (p.Leu602Phe) c.1746G>T (p.Leu582Phe) c.2031G>T (p.Leu677Phe) c.2001G>T (p.Leu667Phe) c.1842G>T (p.Leu614Phe) c.1794G>T (p.Leu598Phe) c.1617G>T (p.Leu539Phe) c.1569G>T (p.Leu523Phe) c.960G>T (p.Leu320Phe) n.2055G>T c.1611G>T (p.Leu537Phe) c.1668G>T (p.Leu556Phe) c.1707G>T (p.Leu569Phe) c.1374G>T (p.Leu458Phe) n.1947G>T n.1838G>T | |
1 | g.243426480del | CA645530216 | SDCCAG8 | c.1907del (p.Gly636GlufsTer24) c.1010del (p.Gly337GlufsTer24) n.114del c.1778del (p.Gly593GlufsTer24) c.1484del (p.Gly495GlufsTer24) c.1004del (p.Gly335GlufsTer24) c.986del (p.Gly329GlufsTer24) c.1937del (p.Gly646GlufsTer24) c.1808del (p.Gly603GlufsTer24) c.1748del (p.Gly583GlufsTer24) c.2033del (p.Gly678GlufsTer24) c.2003del (p.Gly668GlufsTer24) c.1844del (p.Gly615GlufsTer24) c.1796del (p.Gly599GlufsTer24) c.1619del (p.Gly540GlufsTer24) c.1571del (p.Gly524GlufsTer24) c.962del (p.Gly321GlufsTer24) n.2057del c.1613del (p.Gly538GlufsTer24) c.1670del (p.Gly557GlufsTer24) c.1709del (p.Gly570GlufsTer24) c.1376del (p.Gly459GlufsTer24) n.1949del n.1840del | COSMIC |
1 | g.243426479G>A | CA345667754 | SDCCAG8 | c.1906G>A (p.Gly636Arg) c.1009G>A (p.Gly337Arg) n.113G>A c.1777G>A (p.Gly593Arg) c.1483G>A (p.Gly495Arg) c.1003G>A (p.Gly335Arg) c.985G>A (p.Gly329Arg) c.1936G>A (p.Gly646Arg) c.1807G>A (p.Gly603Arg) c.1747G>A (p.Gly583Arg) c.2032G>A (p.Gly678Arg) c.2002G>A (p.Gly668Arg) c.1843G>A (p.Gly615Arg) c.1795G>A (p.Gly599Arg) c.1618G>A (p.Gly540Arg) c.1570G>A (p.Gly524Arg) c.961G>A (p.Gly321Arg) n.2056G>A c.1612G>A (p.Gly538Arg) c.1669G>A (p.Gly557Arg) c.1708G>A (p.Gly570Arg) c.1375G>A (p.Gly459Arg) n.1948G>A n.1839G>A | |
1 | g.243426479G>C | CA345667756 | SDCCAG8 | c.1906G>C (p.Gly636Arg) c.1009G>C (p.Gly337Arg) n.113G>C c.1777G>C (p.Gly593Arg) c.1483G>C (p.Gly495Arg) c.1003G>C (p.Gly335Arg) c.985G>C (p.Gly329Arg) c.1936G>C (p.Gly646Arg) c.1807G>C (p.Gly603Arg) c.1747G>C (p.Gly583Arg) c.2032G>C (p.Gly678Arg) c.2002G>C (p.Gly668Arg) c.1843G>C (p.Gly615Arg) c.1795G>C (p.Gly599Arg) c.1618G>C (p.Gly540Arg) c.1570G>C (p.Gly524Arg) c.961G>C (p.Gly321Arg) n.2056G>C c.1612G>C (p.Gly538Arg) c.1669G>C (p.Gly557Arg) c.1708G>C (p.Gly570Arg) c.1375G>C (p.Gly459Arg) n.1948G>C n.1839G>C | dbSNP gnomAD v4 |
1 | g.243426479G= | CA1230390605 | SDCCAG8 | c.1906G= (p.Gly636=) c.1009G= (p.Gly337=) n.113G= c.1777G= (p.Gly593=) c.1483G= (p.Gly495=) c.1003G= (p.Gly335=) c.985G= (p.Gly329=) c.1936G= (p.Gly646=) c.1807G= (p.Gly603=) c.1747G= (p.Gly583=) c.2032G= (p.Gly678=) c.2002G= (p.Gly668=) c.1843G= (p.Gly615=) c.1795G= (p.Gly599=) c.1618G= (p.Gly540=) c.1570G= (p.Gly524=) c.961G= (p.Gly321=) n.2056G= c.1612G= (p.Gly538=) c.1669G= (p.Gly557=) c.1708G= (p.Gly570=) c.1375G= (p.Gly459=) n.1948G= n.1839G= | |
1 | g.243426479G>T | CA345667755 | SDCCAG8 | c.1906G>T (p.Gly636Ter) c.1009G>T (p.Gly337Ter) n.113G>T c.1777G>T (p.Gly593Ter) c.1483G>T (p.Gly495Ter) c.1003G>T (p.Gly335Ter) c.985G>T (p.Gly329Ter) c.1936G>T (p.Gly646Ter) c.1807G>T (p.Gly603Ter) c.1747G>T (p.Gly583Ter) c.2032G>T (p.Gly678Ter) c.2002G>T (p.Gly668Ter) c.1843G>T (p.Gly615Ter) c.1795G>T (p.Gly599Ter) c.1618G>T (p.Gly540Ter) c.1570G>T (p.Gly524Ter) c.961G>T (p.Gly321Ter) n.2056G>T c.1612G>T (p.Gly538Ter) c.1669G>T (p.Gly557Ter) c.1708G>T (p.Gly570Ter) c.1375G>T (p.Gly459Ter) n.1948G>T n.1839G>T | |
1 | g.243426480G>A | CA345667757 | SDCCAG8 | c.1907G>A (p.Gly636Glu) c.1010G>A (p.Gly337Glu) n.114G>A c.1778G>A (p.Gly593Glu) c.1484G>A (p.Gly495Glu) c.1004G>A (p.Gly335Glu) c.986G>A (p.Gly329Glu) c.1937G>A (p.Gly646Glu) c.1808G>A (p.Gly603Glu) c.1748G>A (p.Gly583Glu) c.2033G>A (p.Gly678Glu) c.2003G>A (p.Gly668Glu) c.1844G>A (p.Gly615Glu) c.1796G>A (p.Gly599Glu) c.1619G>A (p.Gly540Glu) c.1571G>A (p.Gly524Glu) c.962G>A (p.Gly321Glu) n.2057G>A c.1613G>A (p.Gly538Glu) c.1670G>A (p.Gly557Glu) c.1709G>A (p.Gly570Glu) c.1376G>A (p.Gly459Glu) n.1949G>A n.1840G>A | |
1 | g.243426480G>C | CA345667758 | SDCCAG8 | c.1907G>C (p.Gly636Ala) c.1010G>C (p.Gly337Ala) n.114G>C c.1778G>C (p.Gly593Ala) c.1484G>C (p.Gly495Ala) c.1004G>C (p.Gly335Ala) c.986G>C (p.Gly329Ala) c.1937G>C (p.Gly646Ala) c.1808G>C (p.Gly603Ala) c.1748G>C (p.Gly583Ala) c.2033G>C (p.Gly678Ala) c.2003G>C (p.Gly668Ala) c.1844G>C (p.Gly615Ala) c.1796G>C (p.Gly599Ala) c.1619G>C (p.Gly540Ala) c.1571G>C (p.Gly524Ala) c.962G>C (p.Gly321Ala) n.2057G>C c.1613G>C (p.Gly538Ala) c.1670G>C (p.Gly557Ala) c.1709G>C (p.Gly570Ala) c.1376G>C (p.Gly459Ala) n.1949G>C n.1840G>C | |
1 | g.243426480G>T | CA345667759 | SDCCAG8 | c.1907G>T (p.Gly636Val) c.1010G>T (p.Gly337Val) n.114G>T c.1778G>T (p.Gly593Val) c.1484G>T (p.Gly495Val) c.1004G>T (p.Gly335Val) c.986G>T (p.Gly329Val) c.1937G>T (p.Gly646Val) c.1808G>T (p.Gly603Val) c.1748G>T (p.Gly583Val) c.2033G>T (p.Gly678Val) c.2003G>T (p.Gly668Val) c.1844G>T (p.Gly615Val) c.1796G>T (p.Gly599Val) c.1619G>T (p.Gly540Val) c.1571G>T (p.Gly524Val) c.962G>T (p.Gly321Val) n.2057G>T c.1613G>T (p.Gly538Val) c.1670G>T (p.Gly557Val) c.1709G>T (p.Gly570Val) c.1376G>T (p.Gly459Val) n.1949G>T n.1840G>T | |
1 | g.243426481A>C | CA424346863 | SDCCAG8 | c.1908A>C (p.Gly636=) c.1011A>C (p.Gly337=) n.115A>C c.1779A>C (p.Gly593=) c.1485A>C (p.Gly495=) c.1005A>C (p.Gly335=) c.987A>C (p.Gly329=) c.1938A>C (p.Gly646=) c.1809A>C (p.Gly603=) c.1749A>C (p.Gly583=) c.2034A>C (p.Gly678=) c.2004A>C (p.Gly668=) c.1845A>C (p.Gly615=) c.1797A>C (p.Gly599=) c.1620A>C (p.Gly540=) c.1572A>C (p.Gly524=) c.963A>C (p.Gly321=) n.2058A>C c.1614A>C (p.Gly538=) c.1671A>C (p.Gly557=) c.1710A>C (p.Gly570=) c.1377A>C (p.Gly459=) n.1950A>C n.1841A>C | |
1 | g.243426481A>G | CA424346864 | SDCCAG8 | c.1908A>G (p.Gly636=) c.1011A>G (p.Gly337=) n.115A>G c.1779A>G (p.Gly593=) c.1485A>G (p.Gly495=) c.1005A>G (p.Gly335=) c.987A>G (p.Gly329=) c.1938A>G (p.Gly646=) c.1809A>G (p.Gly603=) c.1749A>G (p.Gly583=) c.2034A>G (p.Gly678=) c.2004A>G (p.Gly668=) c.1845A>G (p.Gly615=) c.1797A>G (p.Gly599=) c.1620A>G (p.Gly540=) c.1572A>G (p.Gly524=) c.963A>G (p.Gly321=) n.2058A>G c.1614A>G (p.Gly538=) c.1671A>G (p.Gly557=) c.1710A>G (p.Gly570=) c.1377A>G (p.Gly459=) n.1950A>G n.1841A>G | |
1 | g.243426481A>T | CA424346865 | SDCCAG8 | c.1908A>T (p.Gly636=) c.1011A>T (p.Gly337=) n.115A>T c.1779A>T (p.Gly593=) c.1485A>T (p.Gly495=) c.1005A>T (p.Gly335=) c.987A>T (p.Gly329=) c.1938A>T (p.Gly646=) c.1809A>T (p.Gly603=) c.1749A>T (p.Gly583=) c.2034A>T (p.Gly678=) c.2004A>T (p.Gly668=) c.1845A>T (p.Gly615=) c.1797A>T (p.Gly599=) c.1620A>T (p.Gly540=) c.1572A>T (p.Gly524=) c.963A>T (p.Gly321=) n.2058A>T c.1614A>T (p.Gly538=) c.1671A>T (p.Gly557=) c.1710A>T (p.Gly570=) c.1377A>T (p.Gly459=) n.1950A>T n.1841A>T | |
1 | g.243426482A>C | CA345667760 | SDCCAG8 | c.1909A>C (p.Lys637Gln) c.1012A>C (p.Lys338Gln) n.116A>C c.1780A>C (p.Lys594Gln) c.1486A>C (p.Lys496Gln) c.1006A>C (p.Lys336Gln) c.988A>C (p.Lys330Gln) c.1939A>C (p.Lys647Gln) c.1810A>C (p.Lys604Gln) c.1750A>C (p.Lys584Gln) c.2035A>C (p.Lys679Gln) c.2005A>C (p.Lys669Gln) c.1846A>C (p.Lys616Gln) c.1798A>C (p.Lys600Gln) c.1621A>C (p.Lys541Gln) c.1573A>C (p.Lys525Gln) c.964A>C (p.Lys322Gln) n.2059A>C c.1615A>C (p.Lys539Gln) c.1672A>C (p.Lys558Gln) c.1711A>C (p.Lys571Gln) c.1378A>C (p.Lys460Gln) n.1951A>C n.1842A>C | |
1 | g.243426482A>G | CA345667761 | SDCCAG8 | c.1909A>G (p.Lys637Glu) c.1012A>G (p.Lys338Glu) n.116A>G c.1780A>G (p.Lys594Glu) c.1486A>G (p.Lys496Glu) c.1006A>G (p.Lys336Glu) c.988A>G (p.Lys330Glu) c.1939A>G (p.Lys647Glu) c.1810A>G (p.Lys604Glu) c.1750A>G (p.Lys584Glu) c.2035A>G (p.Lys679Glu) c.2005A>G (p.Lys669Glu) c.1846A>G (p.Lys616Glu) c.1798A>G (p.Lys600Glu) c.1621A>G (p.Lys541Glu) c.1573A>G (p.Lys525Glu) c.964A>G (p.Lys322Glu) n.2059A>G c.1615A>G (p.Lys539Glu) c.1672A>G (p.Lys558Glu) c.1711A>G (p.Lys571Glu) c.1378A>G (p.Lys460Glu) n.1951A>G n.1842A>G | gnomAD v4 |
1 | g.243426482A>T | CA345667762 | SDCCAG8 | c.1909A>T (p.Lys637Ter) c.1012A>T (p.Lys338Ter) n.116A>T c.1780A>T (p.Lys594Ter) c.1486A>T (p.Lys496Ter) c.1006A>T (p.Lys336Ter) c.988A>T (p.Lys330Ter) c.1939A>T (p.Lys647Ter) c.1810A>T (p.Lys604Ter) c.1750A>T (p.Lys584Ter) c.2035A>T (p.Lys679Ter) c.2005A>T (p.Lys669Ter) c.1846A>T (p.Lys616Ter) c.1798A>T (p.Lys600Ter) c.1621A>T (p.Lys541Ter) c.1573A>T (p.Lys525Ter) c.964A>T (p.Lys322Ter) n.2059A>T c.1615A>T (p.Lys539Ter) c.1672A>T (p.Lys558Ter) c.1711A>T (p.Lys571Ter) c.1378A>T (p.Lys460Ter) n.1951A>T n.1842A>T | |
1 | g.243426483A>C | CA345667763 | SDCCAG8 | c.1910A>C (p.Lys637Thr) c.1013A>C (p.Lys338Thr) n.117A>C c.1781A>C (p.Lys594Thr) c.1487A>C (p.Lys496Thr) c.1007A>C (p.Lys336Thr) c.989A>C (p.Lys330Thr) c.1940A>C (p.Lys647Thr) c.1811A>C (p.Lys604Thr) c.1751A>C (p.Lys584Thr) c.2036A>C (p.Lys679Thr) c.2006A>C (p.Lys669Thr) c.1847A>C (p.Lys616Thr) c.1799A>C (p.Lys600Thr) c.1622A>C (p.Lys541Thr) c.1574A>C (p.Lys525Thr) c.965A>C (p.Lys322Thr) n.2060A>C c.1616A>C (p.Lys539Thr) c.1673A>C (p.Lys558Thr) c.1712A>C (p.Lys571Thr) c.1379A>C (p.Lys460Thr) n.1952A>C n.1843A>C | |
1 | g.243426483A>G | CA345667764 | SDCCAG8 | c.1910A>G (p.Lys637Arg) c.1013A>G (p.Lys338Arg) n.117A>G c.1781A>G (p.Lys594Arg) c.1487A>G (p.Lys496Arg) c.1007A>G (p.Lys336Arg) c.989A>G (p.Lys330Arg) c.1940A>G (p.Lys647Arg) c.1811A>G (p.Lys604Arg) c.1751A>G (p.Lys584Arg) c.2036A>G (p.Lys679Arg) c.2006A>G (p.Lys669Arg) c.1847A>G (p.Lys616Arg) c.1799A>G (p.Lys600Arg) c.1622A>G (p.Lys541Arg) c.1574A>G (p.Lys525Arg) c.965A>G (p.Lys322Arg) n.2060A>G c.1616A>G (p.Lys539Arg) c.1673A>G (p.Lys558Arg) c.1712A>G (p.Lys571Arg) c.1379A>G (p.Lys460Arg) n.1952A>G n.1843A>G | |
1 | g.243426483A>T | CA345667765 | SDCCAG8 | c.1910A>T (p.Lys637Met) c.1013A>T (p.Lys338Met) n.117A>T c.1781A>T (p.Lys594Met) c.1487A>T (p.Lys496Met) c.1007A>T (p.Lys336Met) c.989A>T (p.Lys330Met) c.1940A>T (p.Lys647Met) c.1811A>T (p.Lys604Met) c.1751A>T (p.Lys584Met) c.2036A>T (p.Lys679Met) c.2006A>T (p.Lys669Met) c.1847A>T (p.Lys616Met) c.1799A>T (p.Lys600Met) c.1622A>T (p.Lys541Met) c.1574A>T (p.Lys525Met) c.965A>T (p.Lys322Met) n.2060A>T c.1616A>T (p.Lys539Met) c.1673A>T (p.Lys558Met) c.1712A>T (p.Lys571Met) c.1379A>T (p.Lys460Met) n.1952A>T n.1843A>T | |
1 | g.243426484G>A | CA424346866 | SDCCAG8 | c.1911G>A (p.Lys637=) c.1014G>A (p.Lys338=) n.118G>A c.1782G>A (p.Lys594=) c.1488G>A (p.Lys496=) c.1008G>A (p.Lys336=) c.990G>A (p.Lys330=) c.1941G>A (p.Lys647=) c.1812G>A (p.Lys604=) c.1752G>A (p.Lys584=) c.2037G>A (p.Lys679=) c.2007G>A (p.Lys669=) c.1848G>A (p.Lys616=) c.1800G>A (p.Lys600=) c.1623G>A (p.Lys541=) c.1575G>A (p.Lys525=) c.966G>A (p.Lys322=) n.2061G>A c.1617G>A (p.Lys539=) c.1674G>A (p.Lys558=) c.1713G>A (p.Lys571=) c.1380G>A (p.Lys460=) n.1953G>A n.1844G>A | |
1 | g.243426484G>C | CA345667766 | SDCCAG8 | c.1911G>C (p.Lys637Asn) c.1014G>C (p.Lys338Asn) n.118G>C c.1782G>C (p.Lys594Asn) c.1488G>C (p.Lys496Asn) c.1008G>C (p.Lys336Asn) c.990G>C (p.Lys330Asn) c.1941G>C (p.Lys647Asn) c.1812G>C (p.Lys604Asn) c.1752G>C (p.Lys584Asn) c.2037G>C (p.Lys679Asn) c.2007G>C (p.Lys669Asn) c.1848G>C (p.Lys616Asn) c.1800G>C (p.Lys600Asn) c.1623G>C (p.Lys541Asn) c.1575G>C (p.Lys525Asn) c.966G>C (p.Lys322Asn) n.2061G>C c.1617G>C (p.Lys539Asn) c.1674G>C (p.Lys558Asn) c.1713G>C (p.Lys571Asn) c.1380G>C (p.Lys460Asn) n.1953G>C n.1844G>C | |
1 | g.243426484G>T | CA345667767 | SDCCAG8 | c.1911G>T (p.Lys637Asn) c.1014G>T (p.Lys338Asn) n.118G>T c.1782G>T (p.Lys594Asn) c.1488G>T (p.Lys496Asn) c.1008G>T (p.Lys336Asn) c.990G>T (p.Lys330Asn) c.1941G>T (p.Lys647Asn) c.1812G>T (p.Lys604Asn) c.1752G>T (p.Lys584Asn) c.2037G>T (p.Lys679Asn) c.2007G>T (p.Lys669Asn) c.1848G>T (p.Lys616Asn) c.1800G>T (p.Lys600Asn) c.1623G>T (p.Lys541Asn) c.1575G>T (p.Lys525Asn) c.966G>T (p.Lys322Asn) n.2061G>T c.1617G>T (p.Lys539Asn) c.1674G>T (p.Lys558Asn) c.1713G>T (p.Lys571Asn) c.1380G>T (p.Lys460Asn) n.1953G>T n.1844G>T | gnomAD v4 |
1 | g.243426485T>A | CA345667768 | SDCCAG8 | c.1912T>A (p.Leu638Ile) c.1015T>A (p.Leu339Ile) n.119T>A c.1783T>A (p.Leu595Ile) c.1489T>A (p.Leu497Ile) c.1009T>A (p.Leu337Ile) c.991T>A (p.Leu331Ile) c.1942T>A (p.Leu648Ile) c.1813T>A (p.Leu605Ile) c.1753T>A (p.Leu585Ile) c.2038T>A (p.Leu680Ile) c.2008T>A (p.Leu670Ile) c.1849T>A (p.Leu617Ile) c.1801T>A (p.Leu601Ile) c.1624T>A (p.Leu542Ile) c.1576T>A (p.Leu526Ile) c.967T>A (p.Leu323Ile) n.2062T>A c.1618T>A (p.Leu540Ile) c.1675T>A (p.Leu559Ile) c.1714T>A (p.Leu572Ile) c.1381T>A (p.Leu461Ile) n.1954T>A n.1845T>A | |
1 | g.243426485T>C | CA424346867 | SDCCAG8 | c.1912T>C (p.Leu638=) c.1015T>C (p.Leu339=) n.119T>C c.1783T>C (p.Leu595=) c.1489T>C (p.Leu497=) c.1009T>C (p.Leu337=) c.991T>C (p.Leu331=) c.1942T>C (p.Leu648=) c.1813T>C (p.Leu605=) c.1753T>C (p.Leu585=) c.2038T>C (p.Leu680=) c.2008T>C (p.Leu670=) c.1849T>C (p.Leu617=) c.1801T>C (p.Leu601=) c.1624T>C (p.Leu542=) c.1576T>C (p.Leu526=) c.967T>C (p.Leu323=) n.2062T>C c.1618T>C (p.Leu540=) c.1675T>C (p.Leu559=) c.1714T>C (p.Leu572=) c.1381T>C (p.Leu461=) n.1954T>C n.1845T>C | |
1 | g.243426485T>G | CA345667769 | SDCCAG8 | c.1912T>G (p.Leu638Val) c.1015T>G (p.Leu339Val) n.119T>G c.1783T>G (p.Leu595Val) c.1489T>G (p.Leu497Val) c.1009T>G (p.Leu337Val) c.991T>G (p.Leu331Val) c.1942T>G (p.Leu648Val) c.1813T>G (p.Leu605Val) c.1753T>G (p.Leu585Val) c.2038T>G (p.Leu680Val) c.2008T>G (p.Leu670Val) c.1849T>G (p.Leu617Val) c.1801T>G (p.Leu601Val) c.1624T>G (p.Leu542Val) c.1576T>G (p.Leu526Val) c.967T>G (p.Leu323Val) n.2062T>G c.1618T>G (p.Leu540Val) c.1675T>G (p.Leu559Val) c.1714T>G (p.Leu572Val) c.1381T>G (p.Leu461Val) n.1954T>G n.1845T>G | |
1 | g.243426486T>A | CA345667770 | SDCCAG8 | c.1913T>A (p.Leu638Ter) c.1016T>A (p.Leu339Ter) n.120T>A c.1784T>A (p.Leu595Ter) c.1490T>A (p.Leu497Ter) c.1010T>A (p.Leu337Ter) c.992T>A (p.Leu331Ter) c.1943T>A (p.Leu648Ter) c.1814T>A (p.Leu605Ter) c.1754T>A (p.Leu585Ter) c.2039T>A (p.Leu680Ter) c.2009T>A (p.Leu670Ter) c.1850T>A (p.Leu617Ter) c.1802T>A (p.Leu601Ter) c.1625T>A (p.Leu542Ter) c.1577T>A (p.Leu526Ter) c.968T>A (p.Leu323Ter) n.2063T>A c.1619T>A (p.Leu540Ter) c.1676T>A (p.Leu559Ter) c.1715T>A (p.Leu572Ter) c.1382T>A (p.Leu461Ter) n.1955T>A n.1846T>A | |
1 | g.243426486T>C | CA1483775 | SDCCAG8 | c.1913T>C (p.Leu638Ser) c.1016T>C (p.Leu339Ser) n.120T>C c.1784T>C (p.Leu595Ser) c.1490T>C (p.Leu497Ser) c.1010T>C (p.Leu337Ser) c.992T>C (p.Leu331Ser) c.1943T>C (p.Leu648Ser) c.1814T>C (p.Leu605Ser) c.1754T>C (p.Leu585Ser) c.2039T>C (p.Leu680Ser) c.2009T>C (p.Leu670Ser) c.1850T>C (p.Leu617Ser) c.1802T>C (p.Leu601Ser) c.1625T>C (p.Leu542Ser) c.1577T>C (p.Leu526Ser) c.968T>C (p.Leu323Ser) n.2063T>C c.1619T>C (p.Leu540Ser) c.1676T>C (p.Leu559Ser) c.1715T>C (p.Leu572Ser) c.1382T>C (p.Leu461Ser) n.1955T>C n.1846T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.243426486T>G | CA345667771 | SDCCAG8 | c.1913T>G (p.Leu638Ter) c.1016T>G (p.Leu339Ter) n.120T>G c.1784T>G (p.Leu595Ter) c.1490T>G (p.Leu497Ter) c.1010T>G (p.Leu337Ter) c.992T>G (p.Leu331Ter) c.1943T>G (p.Leu648Ter) c.1814T>G (p.Leu605Ter) c.1754T>G (p.Leu585Ter) c.2039T>G (p.Leu680Ter) c.2009T>G (p.Leu670Ter) c.1850T>G (p.Leu617Ter) c.1802T>G (p.Leu601Ter) c.1625T>G (p.Leu542Ter) c.1577T>G (p.Leu526Ter) c.968T>G (p.Leu323Ter) n.2063T>G c.1619T>G (p.Leu540Ter) c.1676T>G (p.Leu559Ter) c.1715T>G (p.Leu572Ter) c.1382T>G (p.Leu461Ter) n.1955T>G n.1846T>G | |
1 | g.243426486T= | CA1230390606 | SDCCAG8 | c.1913T= (p.Leu638=) c.1016T= (p.Leu339=) n.120T= c.1784T= (p.Leu595=) c.1490T= (p.Leu497=) c.1010T= (p.Leu337=) c.992T= (p.Leu331=) c.1943T= (p.Leu648=) c.1814T= (p.Leu605=) c.1754T= (p.Leu585=) c.2039T= (p.Leu680=) c.2009T= (p.Leu670=) c.1850T= (p.Leu617=) c.1802T= (p.Leu601=) c.1625T= (p.Leu542=) c.1577T= (p.Leu526=) c.968T= (p.Leu323=) n.2063T= c.1619T= (p.Leu540=) c.1676T= (p.Leu559=) c.1715T= (p.Leu572=) c.1382T= (p.Leu461=) n.1955T= n.1846T= | |
1 | g.243426487A= | CA1230390607 | SDCCAG8 | c.1914A= (p.Leu638=) c.1017A= (p.Leu339=) n.121A= c.1785A= (p.Leu595=) c.1491A= (p.Leu497=) c.1011A= (p.Leu337=) c.993A= (p.Leu331=) c.1944A= (p.Leu648=) c.1815A= (p.Leu605=) c.1755A= (p.Leu585=) c.2040A= (p.Leu680=) c.2010A= (p.Leu670=) c.1851A= (p.Leu617=) c.1803A= (p.Leu601=) c.1626A= (p.Leu542=) c.1578A= (p.Leu526=) c.969A= (p.Leu323=) n.2064A= c.1620A= (p.Leu540=) c.1677A= (p.Leu559=) c.1716A= (p.Leu572=) c.1383A= (p.Leu461=) n.1956A= n.1847A= | |
1 | g.243426487A>C | CA345667772 | SDCCAG8 | c.1914A>C (p.Leu638Phe) c.1017A>C (p.Leu339Phe) n.121A>C c.1785A>C (p.Leu595Phe) c.1491A>C (p.Leu497Phe) c.1011A>C (p.Leu337Phe) c.993A>C (p.Leu331Phe) c.1944A>C (p.Leu648Phe) c.1815A>C (p.Leu605Phe) c.1755A>C (p.Leu585Phe) c.2040A>C (p.Leu680Phe) c.2010A>C (p.Leu670Phe) c.1851A>C (p.Leu617Phe) c.1803A>C (p.Leu601Phe) c.1626A>C (p.Leu542Phe) c.1578A>C (p.Leu526Phe) c.969A>C (p.Leu323Phe) n.2064A>C c.1620A>C (p.Leu540Phe) c.1677A>C (p.Leu559Phe) c.1716A>C (p.Leu572Phe) c.1383A>C (p.Leu461Phe) n.1956A>C n.1847A>C | |
1 | g.243426487A>G | CA1483776 | SDCCAG8 | c.1914A>G (p.Leu638=) c.1017A>G (p.Leu339=) n.121A>G c.1785A>G (p.Leu595=) c.1491A>G (p.Leu497=) c.1011A>G (p.Leu337=) c.993A>G (p.Leu331=) c.1944A>G (p.Leu648=) c.1815A>G (p.Leu605=) c.1755A>G (p.Leu585=) c.2040A>G (p.Leu680=) c.2010A>G (p.Leu670=) c.1851A>G (p.Leu617=) c.1803A>G (p.Leu601=) c.1626A>G (p.Leu542=) c.1578A>G (p.Leu526=) c.969A>G (p.Leu323=) n.2064A>G c.1620A>G (p.Leu540=) c.1677A>G (p.Leu559=) c.1716A>G (p.Leu572=) c.1383A>G (p.Leu461=) n.1956A>G n.1847A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.243426487A>T | CA345667773 | SDCCAG8 | c.1914A>T (p.Leu638Phe) c.1017A>T (p.Leu339Phe) n.121A>T c.1785A>T (p.Leu595Phe) c.1491A>T (p.Leu497Phe) c.1011A>T (p.Leu337Phe) c.993A>T (p.Leu331Phe) c.1944A>T (p.Leu648Phe) c.1815A>T (p.Leu605Phe) c.1755A>T (p.Leu585Phe) c.2040A>T (p.Leu680Phe) c.2010A>T (p.Leu670Phe) c.1851A>T (p.Leu617Phe) c.1803A>T (p.Leu601Phe) c.1626A>T (p.Leu542Phe) c.1578A>T (p.Leu526Phe) c.969A>T (p.Leu323Phe) n.2064A>T c.1620A>T (p.Leu540Phe) c.1677A>T (p.Leu559Phe) c.1716A>T (p.Leu572Phe) c.1383A>T (p.Leu461Phe) n.1956A>T n.1847A>T | |
1 | g.243426488C>A | CA345667774 | SDCCAG8 | c.1915C>A (p.Gln639Lys) c.1018C>A (p.Gln340Lys) n.122C>A c.1786C>A (p.Gln596Lys) c.1492C>A (p.Gln498Lys) c.1012C>A (p.Gln338Lys) c.994C>A (p.Gln332Lys) c.1945C>A (p.Gln649Lys) c.1816C>A (p.Gln606Lys) c.1756C>A (p.Gln586Lys) c.2041C>A (p.Gln681Lys) c.2011C>A (p.Gln671Lys) c.1852C>A (p.Gln618Lys) c.1804C>A (p.Gln602Lys) c.1627C>A (p.Gln543Lys) c.1579C>A (p.Gln527Lys) c.970C>A (p.Gln324Lys) n.2065C>A c.1621C>A (p.Gln541Lys) c.1678C>A (p.Gln560Lys) c.1717C>A (p.Gln573Lys) c.1384C>A (p.Gln462Lys) n.1957C>A n.1848C>A | gnomAD v4 |
1 | g.243426488C>G | CA345667775 | SDCCAG8 | c.1915C>G (p.Gln639Glu) c.1018C>G (p.Gln340Glu) n.122C>G c.1786C>G (p.Gln596Glu) c.1492C>G (p.Gln498Glu) c.1012C>G (p.Gln338Glu) c.994C>G (p.Gln332Glu) c.1945C>G (p.Gln649Glu) c.1816C>G (p.Gln606Glu) c.1756C>G (p.Gln586Glu) c.2041C>G (p.Gln681Glu) c.2011C>G (p.Gln671Glu) c.1852C>G (p.Gln618Glu) c.1804C>G (p.Gln602Glu) c.1627C>G (p.Gln543Glu) c.1579C>G (p.Gln527Glu) c.970C>G (p.Gln324Glu) n.2065C>G c.1621C>G (p.Gln541Glu) c.1678C>G (p.Gln560Glu) c.1717C>G (p.Gln573Glu) c.1384C>G (p.Gln462Glu) n.1957C>G n.1848C>G | |
1 | g.243426488C>T | CA345667776 | SDCCAG8 | c.1915C>T (p.Gln639Ter) c.1018C>T (p.Gln340Ter) n.122C>T c.1786C>T (p.Gln596Ter) c.1492C>T (p.Gln498Ter) c.1012C>T (p.Gln338Ter) c.994C>T (p.Gln332Ter) c.1945C>T (p.Gln649Ter) c.1816C>T (p.Gln606Ter) c.1756C>T (p.Gln586Ter) c.2041C>T (p.Gln681Ter) c.2011C>T (p.Gln671Ter) c.1852C>T (p.Gln618Ter) c.1804C>T (p.Gln602Ter) c.1627C>T (p.Gln543Ter) c.1579C>T (p.Gln527Ter) c.970C>T (p.Gln324Ter) n.2065C>T c.1621C>T (p.Gln541Ter) c.1678C>T (p.Gln560Ter) c.1717C>T (p.Gln573Ter) c.1384C>T (p.Gln462Ter) n.1957C>T n.1848C>T | |
1 | g.243426489del | CA2651305520 | SDCCAG8 | c.1916del (p.Gln639ArgfsTer21) c.1019del (p.Gln340ArgfsTer21) n.123del c.1787del (p.Gln596ArgfsTer21) c.1493del (p.Gln498ArgfsTer21) c.1013del (p.Gln338ArgfsTer21) c.995del (p.Gln332ArgfsTer21) c.1946del (p.Gln649ArgfsTer21) c.1817del (p.Gln606ArgfsTer21) c.1757del (p.Gln586ArgfsTer21) c.2042del (p.Gln681ArgfsTer21) c.2012del (p.Gln671ArgfsTer21) c.1853del (p.Gln618ArgfsTer21) c.1805del (p.Gln602ArgfsTer21) c.1628del (p.Gln543ArgfsTer21) c.1580del (p.Gln527ArgfsTer21) c.971del (p.Gln324ArgfsTer21) n.2066del c.1622del (p.Gln541ArgfsTer21) c.1679del (p.Gln560ArgfsTer21) c.1718del (p.Gln573ArgfsTer21) c.1385del (p.Gln462ArgfsTer21) n.1958del n.1849del | gnomAD v4 |
1 | g.243426489A>C | CA345667777 | SDCCAG8 | c.1916A>C (p.Gln639Pro) c.1019A>C (p.Gln340Pro) n.123A>C c.1787A>C (p.Gln596Pro) c.1493A>C (p.Gln498Pro) c.1013A>C (p.Gln338Pro) c.995A>C (p.Gln332Pro) c.1946A>C (p.Gln649Pro) c.1817A>C (p.Gln606Pro) c.1757A>C (p.Gln586Pro) c.2042A>C (p.Gln681Pro) c.2012A>C (p.Gln671Pro) c.1853A>C (p.Gln618Pro) c.1805A>C (p.Gln602Pro) c.1628A>C (p.Gln543Pro) c.1580A>C (p.Gln527Pro) c.971A>C (p.Gln324Pro) n.2066A>C c.1622A>C (p.Gln541Pro) c.1679A>C (p.Gln560Pro) c.1718A>C (p.Gln573Pro) c.1385A>C (p.Gln462Pro) n.1958A>C n.1849A>C | |
1 | g.243426489A>G | CA345667778 | SDCCAG8 | c.1916A>G (p.Gln639Arg) c.1019A>G (p.Gln340Arg) n.123A>G c.1787A>G (p.Gln596Arg) c.1493A>G (p.Gln498Arg) c.1013A>G (p.Gln338Arg) c.995A>G (p.Gln332Arg) c.1946A>G (p.Gln649Arg) c.1817A>G (p.Gln606Arg) c.1757A>G (p.Gln586Arg) c.2042A>G (p.Gln681Arg) c.2012A>G (p.Gln671Arg) c.1853A>G (p.Gln618Arg) c.1805A>G (p.Gln602Arg) c.1628A>G (p.Gln543Arg) c.1580A>G (p.Gln527Arg) c.971A>G (p.Gln324Arg) n.2066A>G c.1622A>G (p.Gln541Arg) c.1679A>G (p.Gln560Arg) c.1718A>G (p.Gln573Arg) c.1385A>G (p.Gln462Arg) n.1958A>G n.1849A>G | |
1 | g.243426489A>T | CA345667779 | SDCCAG8 | c.1916A>T (p.Gln639Leu) c.1019A>T (p.Gln340Leu) n.123A>T c.1787A>T (p.Gln596Leu) c.1493A>T (p.Gln498Leu) c.1013A>T (p.Gln338Leu) c.995A>T (p.Gln332Leu) c.1946A>T (p.Gln649Leu) c.1817A>T (p.Gln606Leu) c.1757A>T (p.Gln586Leu) c.2042A>T (p.Gln681Leu) c.2012A>T (p.Gln671Leu) c.1853A>T (p.Gln618Leu) c.1805A>T (p.Gln602Leu) c.1628A>T (p.Gln543Leu) c.1580A>T (p.Gln527Leu) c.971A>T (p.Gln324Leu) n.2066A>T c.1622A>T (p.Gln541Leu) c.1679A>T (p.Gln560Leu) c.1718A>T (p.Gln573Leu) c.1385A>T (p.Gln462Leu) n.1958A>T n.1849A>T | |
1 | g.243426490G>A | CA424346868 | SDCCAG8 | c.1917G>A (p.Gln639=) c.1020G>A (p.Gln340=) n.124G>A c.1788G>A (p.Gln596=) c.1494G>A (p.Gln498=) c.1014G>A (p.Gln338=) c.996G>A (p.Gln332=) c.1947G>A (p.Gln649=) c.1818G>A (p.Gln606=) c.1758G>A (p.Gln586=) c.2043G>A (p.Gln681=) c.2013G>A (p.Gln671=) c.1854G>A (p.Gln618=) c.1806G>A (p.Gln602=) c.1629G>A (p.Gln543=) c.1581G>A (p.Gln527=) c.972G>A (p.Gln324=) n.2067G>A c.1623G>A (p.Gln541=) c.1680G>A (p.Gln560=) c.1719G>A (p.Gln573=) c.1386G>A (p.Gln462=) n.1959G>A n.1850G>A | |
1 | g.243426490G>C | CA345667780 | SDCCAG8 | c.1917G>C (p.Gln639His) c.1020G>C (p.Gln340His) n.124G>C c.1788G>C (p.Gln596His) c.1494G>C (p.Gln498His) c.1014G>C (p.Gln338His) c.996G>C (p.Gln332His) c.1947G>C (p.Gln649His) c.1818G>C (p.Gln606His) c.1758G>C (p.Gln586His) c.2043G>C (p.Gln681His) c.2013G>C (p.Gln671His) c.1854G>C (p.Gln618His) c.1806G>C (p.Gln602His) c.1629G>C (p.Gln543His) c.1581G>C (p.Gln527His) c.972G>C (p.Gln324His) n.2067G>C c.1623G>C (p.Gln541His) c.1680G>C (p.Gln560His) c.1719G>C (p.Gln573His) c.1386G>C (p.Gln462His) n.1959G>C n.1850G>C | gnomAD v4 |
1 | g.243426490G>T | CA345667781 | SDCCAG8 | c.1917G>T (p.Gln639His) c.1020G>T (p.Gln340His) n.124G>T c.1788G>T (p.Gln596His) c.1494G>T (p.Gln498His) c.1014G>T (p.Gln338His) c.996G>T (p.Gln332His) c.1947G>T (p.Gln649His) c.1818G>T (p.Gln606His) c.1758G>T (p.Gln586His) c.2043G>T (p.Gln681His) c.2013G>T (p.Gln671His) c.1854G>T (p.Gln618His) c.1806G>T (p.Gln602His) c.1629G>T (p.Gln543His) c.1581G>T (p.Gln527His) c.972G>T (p.Gln324His) n.2067G>T c.1623G>T (p.Gln541His) c.1680G>T (p.Gln560His) c.1719G>T (p.Gln573His) c.1386G>T (p.Gln462His) n.1959G>T n.1850G>T | |
1 | g.243426491A>C | CA424346869 | SDCCAG8 | c.1918A>C (p.Arg640=) c.1021A>C (p.Arg341=) n.125A>C c.1789A>C (p.Arg597=) c.1495A>C (p.Arg499=) c.1015A>C (p.Arg339=) c.997A>C (p.Arg333=) c.1948A>C (p.Arg650=) c.1819A>C (p.Arg607=) c.1759A>C (p.Arg587=) c.2044A>C (p.Arg682=) c.2014A>C (p.Arg672=) c.1855A>C (p.Arg619=) c.1807A>C (p.Arg603=) c.1630A>C (p.Arg544=) c.1582A>C (p.Arg528=) c.973A>C (p.Arg325=) n.2068A>C c.1624A>C (p.Arg542=) c.1681A>C (p.Arg561=) c.1720A>C (p.Arg574=) c.1387A>C (p.Arg463=) n.1960A>C n.1851A>C | |
1 | g.243426491A>G | CA345667782 | SDCCAG8 | c.1918A>G (p.Arg640Gly) c.1021A>G (p.Arg341Gly) n.125A>G c.1789A>G (p.Arg597Gly) c.1495A>G (p.Arg499Gly) c.1015A>G (p.Arg339Gly) c.997A>G (p.Arg333Gly) c.1948A>G (p.Arg650Gly) c.1819A>G (p.Arg607Gly) c.1759A>G (p.Arg587Gly) c.2044A>G (p.Arg682Gly) c.2014A>G (p.Arg672Gly) c.1855A>G (p.Arg619Gly) c.1807A>G (p.Arg603Gly) c.1630A>G (p.Arg544Gly) c.1582A>G (p.Arg528Gly) c.973A>G (p.Arg325Gly) n.2068A>G c.1624A>G (p.Arg542Gly) c.1681A>G (p.Arg561Gly) c.1720A>G (p.Arg574Gly) c.1387A>G (p.Arg463Gly) n.1960A>G n.1851A>G | gnomAD v4 |
1 | g.243426491A>T | CA345667783 | SDCCAG8 | c.1918A>T (p.Arg640Ter) c.1021A>T (p.Arg341Ter) n.125A>T c.1789A>T (p.Arg597Ter) c.1495A>T (p.Arg499Ter) c.1015A>T (p.Arg339Ter) c.997A>T (p.Arg333Ter) c.1948A>T (p.Arg650Ter) c.1819A>T (p.Arg607Ter) c.1759A>T (p.Arg587Ter) c.2044A>T (p.Arg682Ter) c.2014A>T (p.Arg672Ter) c.1855A>T (p.Arg619Ter) c.1807A>T (p.Arg603Ter) c.1630A>T (p.Arg544Ter) c.1582A>T (p.Arg528Ter) c.973A>T (p.Arg325Ter) n.2068A>T c.1624A>T (p.Arg542Ter) c.1681A>T (p.Arg561Ter) c.1720A>T (p.Arg574Ter) c.1387A>T (p.Arg463Ter) n.1960A>T n.1851A>T | |
1 | g.243426492G>A | CA345667784 | SDCCAG8 | c.1919G>A (p.Arg640Lys) c.1022G>A (p.Arg341Lys) n.126G>A c.1790G>A (p.Arg597Lys) c.1496G>A (p.Arg499Lys) c.1016G>A (p.Arg339Lys) c.998G>A (p.Arg333Lys) c.1949G>A (p.Arg650Lys) c.1820G>A (p.Arg607Lys) c.1760G>A (p.Arg587Lys) c.2045G>A (p.Arg682Lys) c.2015G>A (p.Arg672Lys) c.1856G>A (p.Arg619Lys) c.1808G>A (p.Arg603Lys) c.1631G>A (p.Arg544Lys) c.1583G>A (p.Arg528Lys) c.974G>A (p.Arg325Lys) n.2069G>A c.1625G>A (p.Arg542Lys) c.1682G>A (p.Arg561Lys) c.1721G>A (p.Arg574Lys) c.1388G>A (p.Arg463Lys) n.1961G>A n.1852G>A | |
1 | g.243426492G>C | CA345667785 | SDCCAG8 | c.1919G>C (p.Arg640Thr) c.1022G>C (p.Arg341Thr) n.126G>C c.1790G>C (p.Arg597Thr) c.1496G>C (p.Arg499Thr) c.1016G>C (p.Arg339Thr) c.998G>C (p.Arg333Thr) c.1949G>C (p.Arg650Thr) c.1820G>C (p.Arg607Thr) c.1760G>C (p.Arg587Thr) c.2045G>C (p.Arg682Thr) c.2015G>C (p.Arg672Thr) c.1856G>C (p.Arg619Thr) c.1808G>C (p.Arg603Thr) c.1631G>C (p.Arg544Thr) c.1583G>C (p.Arg528Thr) c.974G>C (p.Arg325Thr) n.2069G>C c.1625G>C (p.Arg542Thr) c.1682G>C (p.Arg561Thr) c.1721G>C (p.Arg574Thr) c.1388G>C (p.Arg463Thr) n.1961G>C n.1852G>C | |
1 | g.243426492G>T | CA345667786 | SDCCAG8 | c.1919G>T (p.Arg640Ile) c.1022G>T (p.Arg341Ile) n.126G>T c.1790G>T (p.Arg597Ile) c.1496G>T (p.Arg499Ile) c.1016G>T (p.Arg339Ile) c.998G>T (p.Arg333Ile) c.1949G>T (p.Arg650Ile) c.1820G>T (p.Arg607Ile) c.1760G>T (p.Arg587Ile) c.2045G>T (p.Arg682Ile) c.2015G>T (p.Arg672Ile) c.1856G>T (p.Arg619Ile) c.1808G>T (p.Arg603Ile) c.1631G>T (p.Arg544Ile) c.1583G>T (p.Arg528Ile) c.974G>T (p.Arg325Ile) n.2069G>T c.1625G>T (p.Arg542Ile) c.1682G>T (p.Arg561Ile) c.1721G>T (p.Arg574Ile) c.1388G>T (p.Arg463Ile) n.1961G>T n.1852G>T | |
1 | g.243426493A>C | CA345667787 | SDCCAG8 | c.1920A>C (p.Arg640Ser) c.1023A>C (p.Arg341Ser) n.127A>C c.1791A>C (p.Arg597Ser) c.1497A>C (p.Arg499Ser) c.1017A>C (p.Arg339Ser) c.999A>C (p.Arg333Ser) c.1950A>C (p.Arg650Ser) c.1821A>C (p.Arg607Ser) c.1761A>C (p.Arg587Ser) c.2046A>C (p.Arg682Ser) c.2016A>C (p.Arg672Ser) c.1857A>C (p.Arg619Ser) c.1809A>C (p.Arg603Ser) c.1632A>C (p.Arg544Ser) c.1584A>C (p.Arg528Ser) c.975A>C (p.Arg325Ser) n.2070A>C c.1626A>C (p.Arg542Ser) c.1683A>C (p.Arg561Ser) c.1722A>C (p.Arg574Ser) c.1389A>C (p.Arg463Ser) n.1962A>C n.1853A>C | |
1 | g.243426493A>G | CA424346870 | SDCCAG8 | c.1920A>G (p.Arg640=) c.1023A>G (p.Arg341=) n.127A>G c.1791A>G (p.Arg597=) c.1497A>G (p.Arg499=) c.1017A>G (p.Arg339=) c.999A>G (p.Arg333=) c.1950A>G (p.Arg650=) c.1821A>G (p.Arg607=) c.1761A>G (p.Arg587=) c.2046A>G (p.Arg682=) c.2016A>G (p.Arg672=) c.1857A>G (p.Arg619=) c.1809A>G (p.Arg603=) c.1632A>G (p.Arg544=) c.1584A>G (p.Arg528=) c.975A>G (p.Arg325=) n.2070A>G c.1626A>G (p.Arg542=) c.1683A>G (p.Arg561=) c.1722A>G (p.Arg574=) c.1389A>G (p.Arg463=) n.1962A>G n.1853A>G | |
1 | g.243426493A>T | CA345667788 | SDCCAG8 | c.1920A>T (p.Arg640Ser) c.1023A>T (p.Arg341Ser) n.127A>T c.1791A>T (p.Arg597Ser) c.1497A>T (p.Arg499Ser) c.1017A>T (p.Arg339Ser) c.999A>T (p.Arg333Ser) c.1950A>T (p.Arg650Ser) c.1821A>T (p.Arg607Ser) c.1761A>T (p.Arg587Ser) c.2046A>T (p.Arg682Ser) c.2016A>T (p.Arg672Ser) c.1857A>T (p.Arg619Ser) c.1809A>T (p.Arg603Ser) c.1632A>T (p.Arg544Ser) c.1584A>T (p.Arg528Ser) c.975A>T (p.Arg325Ser) n.2070A>T c.1626A>T (p.Arg542Ser) c.1683A>T (p.Arg561Ser) c.1722A>T (p.Arg574Ser) c.1389A>T (p.Arg463Ser) n.1962A>T n.1853A>T | |
1 | g.243426494A= | CA1144774110 | SDCCAG8 | c.1921A= (p.Arg641=) c.1024A= (p.Arg342=) n.128A= c.1792A= (p.Arg598=) c.1498A= (p.Arg500=) c.1018A= (p.Arg340=) c.1000A= (p.Arg334=) c.1951A= (p.Arg651=) c.1822A= (p.Arg608=) c.1762A= (p.Arg588=) c.2047A= (p.Arg683=) c.2017A= (p.Arg673=) c.1858A= (p.Arg620=) c.1810A= (p.Arg604=) c.1633A= (p.Arg545=) c.1585A= (p.Arg529=) c.976A= (p.Arg326=) n.2071A= c.1627A= (p.Arg543=) c.1684A= (p.Arg562=) c.1723A= (p.Arg575=) c.1390A= (p.Arg464=) n.1963A= n.1854A= | |
1 | g.243426494A>C | CA1483777 | SDCCAG8 | c.1921A>C (p.Arg641=) c.1024A>C (p.Arg342=) n.128A>C c.1792A>C (p.Arg598=) c.1498A>C (p.Arg500=) c.1018A>C (p.Arg340=) c.1000A>C (p.Arg334=) c.1951A>C (p.Arg651=) c.1822A>C (p.Arg608=) c.1762A>C (p.Arg588=) c.2047A>C (p.Arg683=) c.2017A>C (p.Arg673=) c.1858A>C (p.Arg620=) c.1810A>C (p.Arg604=) c.1633A>C (p.Arg545=) c.1585A>C (p.Arg529=) c.976A>C (p.Arg326=) n.2071A>C c.1627A>C (p.Arg543=) c.1684A>C (p.Arg562=) c.1723A>C (p.Arg575=) c.1390A>C (p.Arg464=) n.1963A>C n.1854A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.243426494A>G | CA345667790 | SDCCAG8 | c.1921A>G (p.Arg641Gly) c.1024A>G (p.Arg342Gly) n.128A>G c.1792A>G (p.Arg598Gly) c.1498A>G (p.Arg500Gly) c.1018A>G (p.Arg340Gly) c.1000A>G (p.Arg334Gly) c.1951A>G (p.Arg651Gly) c.1822A>G (p.Arg608Gly) c.1762A>G (p.Arg588Gly) c.2047A>G (p.Arg683Gly) c.2017A>G (p.Arg673Gly) c.1858A>G (p.Arg620Gly) c.1810A>G (p.Arg604Gly) c.1633A>G (p.Arg545Gly) c.1585A>G (p.Arg529Gly) c.976A>G (p.Arg326Gly) n.2071A>G c.1627A>G (p.Arg543Gly) c.1684A>G (p.Arg562Gly) c.1723A>G (p.Arg575Gly) c.1390A>G (p.Arg464Gly) n.1963A>G n.1854A>G | |
1 | g.243426494A>T | CA345667789 | SDCCAG8 | c.1921A>T (p.Arg641Ter) c.1024A>T (p.Arg342Ter) n.128A>T c.1792A>T (p.Arg598Ter) c.1498A>T (p.Arg500Ter) c.1018A>T (p.Arg340Ter) c.1000A>T (p.Arg334Ter) c.1951A>T (p.Arg651Ter) c.1822A>T (p.Arg608Ter) c.1762A>T (p.Arg588Ter) c.2047A>T (p.Arg683Ter) c.2017A>T (p.Arg673Ter) c.1858A>T (p.Arg620Ter) c.1810A>T (p.Arg604Ter) c.1633A>T (p.Arg545Ter) c.1585A>T (p.Arg529Ter) c.976A>T (p.Arg326Ter) n.2071A>T c.1627A>T (p.Arg543Ter) c.1684A>T (p.Arg562Ter) c.1723A>T (p.Arg575Ter) c.1390A>T (p.Arg464Ter) n.1963A>T n.1854A>T | |
1 | g.243426495G>A | CA345667791 | SDCCAG8 | c.1922G>A (p.Arg641Lys) c.1025G>A (p.Arg342Lys) n.129G>A c.1793G>A (p.Arg598Lys) c.1499G>A (p.Arg500Lys) c.1019G>A (p.Arg340Lys) c.1001G>A (p.Arg334Lys) c.1952G>A (p.Arg651Lys) c.1823G>A (p.Arg608Lys) c.1763G>A (p.Arg588Lys) c.2048G>A (p.Arg683Lys) c.2018G>A (p.Arg673Lys) c.1859G>A (p.Arg620Lys) c.1811G>A (p.Arg604Lys) c.1634G>A (p.Arg545Lys) c.1586G>A (p.Arg529Lys) c.977G>A (p.Arg326Lys) n.2072G>A c.1628G>A (p.Arg543Lys) c.1685G>A (p.Arg562Lys) c.1724G>A (p.Arg575Lys) c.1391G>A (p.Arg464Lys) n.1964G>A n.1855G>A | |
1 | g.243426495G>C | CA345667792 | SDCCAG8 | c.1922G>C (p.Arg641Thr) c.1025G>C (p.Arg342Thr) n.129G>C c.1793G>C (p.Arg598Thr) c.1499G>C (p.Arg500Thr) c.1019G>C (p.Arg340Thr) c.1001G>C (p.Arg334Thr) c.1952G>C (p.Arg651Thr) c.1823G>C (p.Arg608Thr) c.1763G>C (p.Arg588Thr) c.2048G>C (p.Arg683Thr) c.2018G>C (p.Arg673Thr) c.1859G>C (p.Arg620Thr) c.1811G>C (p.Arg604Thr) c.1634G>C (p.Arg545Thr) c.1586G>C (p.Arg529Thr) c.977G>C (p.Arg326Thr) n.2072G>C c.1628G>C (p.Arg543Thr) c.1685G>C (p.Arg562Thr) c.1724G>C (p.Arg575Thr) c.1391G>C (p.Arg464Thr) n.1964G>C n.1855G>C | |
1 | g.243426495G= | CA1230390608 | SDCCAG8 | c.1922G= (p.Arg641=) c.1025G= (p.Arg342=) n.129G= c.1793G= (p.Arg598=) c.1499G= (p.Arg500=) c.1019G= (p.Arg340=) c.1001G= (p.Arg334=) c.1952G= (p.Arg651=) c.1823G= (p.Arg608=) c.1763G= (p.Arg588=) c.2048G= (p.Arg683=) c.2018G= (p.Arg673=) c.1859G= (p.Arg620=) c.1811G= (p.Arg604=) c.1634G= (p.Arg545=) c.1586G= (p.Arg529=) c.977G= (p.Arg326=) n.2072G= c.1628G= (p.Arg543=) c.1685G= (p.Arg562=) c.1724G= (p.Arg575=) c.1391G= (p.Arg464=) n.1964G= n.1855G= | |
1 | g.243426495G>T | CA345667793 | SDCCAG8 | c.1922G>T (p.Arg641Ile) c.1025G>T (p.Arg342Ile) n.129G>T c.1793G>T (p.Arg598Ile) c.1499G>T (p.Arg500Ile) c.1019G>T (p.Arg340Ile) c.1001G>T (p.Arg334Ile) c.1952G>T (p.Arg651Ile) c.1823G>T (p.Arg608Ile) c.1763G>T (p.Arg588Ile) c.2048G>T (p.Arg683Ile) c.2018G>T (p.Arg673Ile) c.1859G>T (p.Arg620Ile) c.1811G>T (p.Arg604Ile) c.1634G>T (p.Arg545Ile) c.1586G>T (p.Arg529Ile) c.977G>T (p.Arg326Ile) n.2072G>T c.1628G>T (p.Arg543Ile) c.1685G>T (p.Arg562Ile) c.1724G>T (p.Arg575Ile) c.1391G>T (p.Arg464Ile) n.1964G>T n.1855G>T | COSMIC |
1 | g.243426496A>C | CA345667794 | SDCCAG8 | c.1923A>C (p.Arg641Ser) c.1026A>C (p.Arg342Ser) n.130A>C c.1794A>C (p.Arg598Ser) c.1500A>C (p.Arg500Ser) c.1020A>C (p.Arg340Ser) c.1002A>C (p.Arg334Ser) c.1953A>C (p.Arg651Ser) c.1824A>C (p.Arg608Ser) c.1764A>C (p.Arg588Ser) c.2049A>C (p.Arg683Ser) c.2019A>C (p.Arg673Ser) c.1860A>C (p.Arg620Ser) c.1812A>C (p.Arg604Ser) c.1635A>C (p.Arg545Ser) c.1587A>C (p.Arg529Ser) c.978A>C (p.Arg326Ser) n.2073A>C c.1629A>C (p.Arg543Ser) c.1686A>C (p.Arg562Ser) c.1725A>C (p.Arg575Ser) c.1392A>C (p.Arg464Ser) n.1965A>C n.1856A>C | |
1 | g.243426496A>G | CA424346871 | SDCCAG8 | c.1923A>G (p.Arg641=) c.1026A>G (p.Arg342=) n.130A>G c.1794A>G (p.Arg598=) c.1500A>G (p.Arg500=) c.1020A>G (p.Arg340=) c.1002A>G (p.Arg334=) c.1953A>G (p.Arg651=) c.1824A>G (p.Arg608=) c.1764A>G (p.Arg588=) c.2049A>G (p.Arg683=) c.2019A>G (p.Arg673=) c.1860A>G (p.Arg620=) c.1812A>G (p.Arg604=) c.1635A>G (p.Arg545=) c.1587A>G (p.Arg529=) c.978A>G (p.Arg326=) n.2073A>G c.1629A>G (p.Arg543=) c.1686A>G (p.Arg562=) c.1725A>G (p.Arg575=) c.1392A>G (p.Arg464=) n.1965A>G n.1856A>G | |
1 | g.243426496A>T | CA345667795 | SDCCAG8 | c.1923A>T (p.Arg641Ser) c.1026A>T (p.Arg342Ser) n.130A>T c.1794A>T (p.Arg598Ser) c.1500A>T (p.Arg500Ser) c.1020A>T (p.Arg340Ser) c.1002A>T (p.Arg334Ser) c.1953A>T (p.Arg651Ser) c.1824A>T (p.Arg608Ser) c.1764A>T (p.Arg588Ser) c.2049A>T (p.Arg683Ser) c.2019A>T (p.Arg673Ser) c.1860A>T (p.Arg620Ser) c.1812A>T (p.Arg604Ser) c.1635A>T (p.Arg545Ser) c.1587A>T (p.Arg529Ser) c.978A>T (p.Arg326Ser) n.2073A>T c.1629A>T (p.Arg543Ser) c.1686A>T (p.Arg562Ser) c.1725A>T (p.Arg575Ser) c.1392A>T (p.Arg464Ser) n.1965A>T n.1856A>T | |
1 | g.243426496_243426498delinsAAA | CA1140501393 | SDCCAG8 | c.1923_1925delinsAAA (p.Arg641=) c.1026_1028delinsAAA (p.Arg342=) n.130_132delinsAAA c.1794_1796delinsAAA (p.Arg598=) c.1500_1502delinsAAA (p.Arg500=) c.1020_1022delinsAAA (p.Arg340=) c.1002_1004delinsAAA (p.Arg334=) c.1953_1955delinsAAA (p.Arg651=) c.1824_1826delinsAAA (p.Arg608=) c.1764_1766delinsAAA (p.Arg588=) c.2049_2051delinsAAA (p.Arg683=) c.2019_2021delinsAAA (p.Arg673=) c.1860_1862delinsAAA (p.Arg620=) c.1812_1814delinsAAA (p.Arg604=) c.1635_1637delinsAAA (p.Arg545=) c.1587_1589delinsAAA (p.Arg529=) c.978_980delinsAAA (p.Arg326=) n.2073_2075delinsAAA c.1629_1631delinsAAA (p.Arg543=) c.1686_1688delinsAAA (p.Arg562=) c.1725_1727delinsAAA (p.Arg575=) c.1392_1394delinsAAA (p.Arg464=) n.1965_1967delinsAAA n.1856_1858delinsAAA | |
1 | g.243426498dup | CA41009607 | SDCCAG8 | c.1925dup (p.Asn642LysfsTer2) c.1028dup (p.Asn343LysfsTer2) n.132dup c.1796dup (p.Asn599LysfsTer2) c.1502dup (p.Asn501LysfsTer2) c.1022dup (p.Asn341LysfsTer2) c.1004dup (p.Asn335LysfsTer2) c.1955dup (p.Asn652LysfsTer2) c.1826dup (p.Asn609LysfsTer2) c.1766dup (p.Asn589LysfsTer2) c.2051dup (p.Asn684LysfsTer2) c.2021dup (p.Asn674LysfsTer2) c.1862dup (p.Asn621LysfsTer2) c.1814dup (p.Asn605LysfsTer2) c.1637dup (p.Asn546LysfsTer2) c.1589dup (p.Asn530LysfsTer2) c.980dup (p.Asn327LysfsTer2) n.2075dup c.1631dup (p.Asn544LysfsTer2) c.1688dup (p.Asn563LysfsTer2) c.1727dup (p.Asn576LysfsTer2) c.1394dup (p.Asn465LysfsTer2) n.1967dup n.1858dup | dbSNP |
1 | g.243426497A= | CA1230390609 | SDCCAG8 | c.1924A= (p.Asn642=) c.1027A= (p.Asn343=) n.131A= c.1795A= (p.Asn599=) c.1501A= (p.Asn501=) c.1021A= (p.Asn341=) c.1003A= (p.Asn335=) c.1954A= (p.Asn652=) c.1825A= (p.Asn609=) c.1765A= (p.Asn589=) c.2050A= (p.Asn684=) c.2020A= (p.Asn674=) c.1861A= (p.Asn621=) c.1813A= (p.Asn605=) c.1636A= (p.Asn546=) c.1588A= (p.Asn530=) c.979A= (p.Asn327=) n.2074A= c.1630A= (p.Asn544=) c.1687A= (p.Asn563=) c.1726A= (p.Asn576=) c.1393A= (p.Asn465=) n.1966A= n.1857A= | |
1 | g.243426497A>C | CA345667797 | SDCCAG8 | c.1924A>C (p.Asn642His) c.1027A>C (p.Asn343His) n.131A>C c.1795A>C (p.Asn599His) c.1501A>C (p.Asn501His) c.1021A>C (p.Asn341His) c.1003A>C (p.Asn335His) c.1954A>C (p.Asn652His) c.1825A>C (p.Asn609His) c.1765A>C (p.Asn589His) c.2050A>C (p.Asn684His) c.2020A>C (p.Asn674His) c.1861A>C (p.Asn621His) c.1813A>C (p.Asn605His) c.1636A>C (p.Asn546His) c.1588A>C (p.Asn530His) c.979A>C (p.Asn327His) n.2074A>C c.1630A>C (p.Asn544His) c.1687A>C (p.Asn563His) c.1726A>C (p.Asn576His) c.1393A>C (p.Asn465His) n.1966A>C n.1857A>C | |
1 | g.243426497A>G | CA41009608 | SDCCAG8 | c.1924A>G (p.Asn642Asp) c.1027A>G (p.Asn343Asp) n.131A>G c.1795A>G (p.Asn599Asp) c.1501A>G (p.Asn501Asp) c.1021A>G (p.Asn341Asp) c.1003A>G (p.Asn335Asp) c.1954A>G (p.Asn652Asp) c.1825A>G (p.Asn609Asp) c.1765A>G (p.Asn589Asp) c.2050A>G (p.Asn684Asp) c.2020A>G (p.Asn674Asp) c.1861A>G (p.Asn621Asp) c.1813A>G (p.Asn605Asp) c.1636A>G (p.Asn546Asp) c.1588A>G (p.Asn530Asp) c.979A>G (p.Asn327Asp) n.2074A>G c.1630A>G (p.Asn544Asp) c.1687A>G (p.Asn563Asp) c.1726A>G (p.Asn576Asp) c.1393A>G (p.Asn465Asp) n.1966A>G n.1857A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.243426497A>T | CA345667796 | SDCCAG8 | c.1924A>T (p.Asn642Tyr) c.1027A>T (p.Asn343Tyr) n.131A>T c.1795A>T (p.Asn599Tyr) c.1501A>T (p.Asn501Tyr) c.1021A>T (p.Asn341Tyr) c.1003A>T (p.Asn335Tyr) c.1954A>T (p.Asn652Tyr) c.1825A>T (p.Asn609Tyr) c.1765A>T (p.Asn589Tyr) c.2050A>T (p.Asn684Tyr) c.2020A>T (p.Asn674Tyr) c.1861A>T (p.Asn621Tyr) c.1813A>T (p.Asn605Tyr) c.1636A>T (p.Asn546Tyr) c.1588A>T (p.Asn530Tyr) c.979A>T (p.Asn327Tyr) n.2074A>T c.1630A>T (p.Asn544Tyr) c.1687A>T (p.Asn563Tyr) c.1726A>T (p.Asn576Tyr) c.1393A>T (p.Asn465Tyr) n.1966A>T n.1857A>T | |
1 | g.243426498A>C | CA345667798 | SDCCAG8 | c.1925A>C (p.Asn642Thr) c.1028A>C (p.Asn343Thr) n.132A>C c.1796A>C (p.Asn599Thr) c.1502A>C (p.Asn501Thr) c.1022A>C (p.Asn341Thr) c.1004A>C (p.Asn335Thr) c.1955A>C (p.Asn652Thr) c.1826A>C (p.Asn609Thr) c.1766A>C (p.Asn589Thr) c.2051A>C (p.Asn684Thr) c.2021A>C (p.Asn674Thr) c.1862A>C (p.Asn621Thr) c.1814A>C (p.Asn605Thr) c.1637A>C (p.Asn546Thr) c.1589A>C (p.Asn530Thr) c.980A>C (p.Asn327Thr) n.2075A>C c.1631A>C (p.Asn544Thr) c.1688A>C (p.Asn563Thr) c.1727A>C (p.Asn576Thr) c.1394A>C (p.Asn465Thr) n.1967A>C n.1858A>C | |
1 | g.243426498A>G | CA345667799 | SDCCAG8 | c.1925A>G (p.Asn642Ser) c.1028A>G (p.Asn343Ser) n.132A>G c.1796A>G (p.Asn599Ser) c.1502A>G (p.Asn501Ser) c.1022A>G (p.Asn341Ser) c.1004A>G (p.Asn335Ser) c.1955A>G (p.Asn652Ser) c.1826A>G (p.Asn609Ser) c.1766A>G (p.Asn589Ser) c.2051A>G (p.Asn684Ser) c.2021A>G (p.Asn674Ser) c.1862A>G (p.Asn621Ser) c.1814A>G (p.Asn605Ser) c.1637A>G (p.Asn546Ser) c.1589A>G (p.Asn530Ser) c.980A>G (p.Asn327Ser) n.2075A>G c.1631A>G (p.Asn544Ser) c.1688A>G (p.Asn563Ser) c.1727A>G (p.Asn576Ser) c.1394A>G (p.Asn465Ser) n.1967A>G n.1858A>G | gnomAD v4 |
1 | g.243426498A>T | CA345667800 | SDCCAG8 | c.1925A>T (p.Asn642Ile) c.1028A>T (p.Asn343Ile) n.132A>T c.1796A>T (p.Asn599Ile) c.1502A>T (p.Asn501Ile) c.1022A>T (p.Asn341Ile) c.1004A>T (p.Asn335Ile) c.1955A>T (p.Asn652Ile) c.1826A>T (p.Asn609Ile) c.1766A>T (p.Asn589Ile) c.2051A>T (p.Asn684Ile) c.2021A>T (p.Asn674Ile) c.1862A>T (p.Asn621Ile) c.1814A>T (p.Asn605Ile) c.1637A>T (p.Asn546Ile) c.1589A>T (p.Asn530Ile) c.980A>T (p.Asn327Ile) n.2075A>T c.1631A>T (p.Asn544Ile) c.1688A>T (p.Asn563Ile) c.1727A>T (p.Asn576Ile) c.1394A>T (p.Asn465Ile) n.1967A>T n.1858A>T | |
1 | g.243426499T>A | CA345667801 | SDCCAG8 | c.1926T>A (p.Asn642Lys) c.1029T>A (p.Asn343Lys) n.133T>A c.1797T>A (p.Asn599Lys) c.1503T>A (p.Asn501Lys) c.1023T>A (p.Asn341Lys) c.1005T>A (p.Asn335Lys) c.1956T>A (p.Asn652Lys) c.1827T>A (p.Asn609Lys) c.1767T>A (p.Asn589Lys) c.2052T>A (p.Asn684Lys) c.2022T>A (p.Asn674Lys) c.1863T>A (p.Asn621Lys) c.1815T>A (p.Asn605Lys) c.1638T>A (p.Asn546Lys) c.1590T>A (p.Asn530Lys) c.981T>A (p.Asn327Lys) n.2076T>A c.1632T>A (p.Asn544Lys) c.1689T>A (p.Asn563Lys) c.1728T>A (p.Asn576Lys) c.1395T>A (p.Asn465Lys) n.1968T>A n.1859T>A | |
1 | g.243426499T>C | CA424346872 | SDCCAG8 | c.1926T>C (p.Asn642=) c.1029T>C (p.Asn343=) n.133T>C c.1797T>C (p.Asn599=) c.1503T>C (p.Asn501=) c.1023T>C (p.Asn341=) c.1005T>C (p.Asn335=) c.1956T>C (p.Asn652=) c.1827T>C (p.Asn609=) c.1767T>C (p.Asn589=) c.2052T>C (p.Asn684=) c.2022T>C (p.Asn674=) c.1863T>C (p.Asn621=) c.1815T>C (p.Asn605=) c.1638T>C (p.Asn546=) c.1590T>C (p.Asn530=) c.981T>C (p.Asn327=) n.2076T>C c.1632T>C (p.Asn544=) c.1689T>C (p.Asn563=) c.1728T>C (p.Asn576=) c.1395T>C (p.Asn465=) n.1968T>C n.1859T>C | |
1 | g.243426499T>G | CA345667802 | SDCCAG8 | c.1926T>G (p.Asn642Lys) c.1029T>G (p.Asn343Lys) n.133T>G c.1797T>G (p.Asn599Lys) c.1503T>G (p.Asn501Lys) c.1023T>G (p.Asn341Lys) c.1005T>G (p.Asn335Lys) c.1956T>G (p.Asn652Lys) c.1827T>G (p.Asn609Lys) c.1767T>G (p.Asn589Lys) c.2052T>G (p.Asn684Lys) c.2022T>G (p.Asn674Lys) c.1863T>G (p.Asn621Lys) c.1815T>G (p.Asn605Lys) c.1638T>G (p.Asn546Lys) c.1590T>G (p.Asn530Lys) c.981T>G (p.Asn327Lys) n.2076T>G c.1632T>G (p.Asn544Lys) c.1689T>G (p.Asn563Lys) c.1728T>G (p.Asn576Lys) c.1395T>G (p.Asn465Lys) n.1968T>G n.1859T>G | dbSNP |
1 | g.243426499T= | CA1230390610 | SDCCAG8 | c.1926T= (p.Asn642=) c.1029T= (p.Asn343=) n.133T= c.1797T= (p.Asn599=) c.1503T= (p.Asn501=) c.1023T= (p.Asn341=) c.1005T= (p.Asn335=) c.1956T= (p.Asn652=) c.1827T= (p.Asn609=) c.1767T= (p.Asn589=) c.2052T= (p.Asn684=) c.2022T= (p.Asn674=) c.1863T= (p.Asn621=) c.1815T= (p.Asn605=) c.1638T= (p.Asn546=) c.1590T= (p.Asn530=) c.981T= (p.Asn327=) n.2076T= c.1632T= (p.Asn544=) c.1689T= (p.Asn563=) c.1728T= (p.Asn576=) c.1395T= (p.Asn465=) n.1968T= n.1859T= | |
1 | g.243426500G>A | CA345667803 | SDCCAG8 | c.1927G>A (p.Glu643Lys) c.1030G>A (p.Glu344Lys) n.134G>A c.1798G>A (p.Glu600Lys) c.1504G>A (p.Glu502Lys) c.1024G>A (p.Glu342Lys) c.1006G>A (p.Glu336Lys) c.1957G>A (p.Glu653Lys) c.1828G>A (p.Glu610Lys) c.1768G>A (p.Glu590Lys) c.2053G>A (p.Glu685Lys) c.2023G>A (p.Glu675Lys) c.1864G>A (p.Glu622Lys) c.1816G>A (p.Glu606Lys) c.1639G>A (p.Glu547Lys) c.1591G>A (p.Glu531Lys) c.982G>A (p.Glu328Lys) n.2077G>A c.1633G>A (p.Glu545Lys) c.1690G>A (p.Glu564Lys) c.1729G>A (p.Glu577Lys) c.1396G>A (p.Glu466Lys) n.1969G>A n.1860G>A | |
1 | g.243426500G>C | CA345667804 | SDCCAG8 | c.1927G>C (p.Glu643Gln) c.1030G>C (p.Glu344Gln) n.134G>C c.1798G>C (p.Glu600Gln) c.1504G>C (p.Glu502Gln) c.1024G>C (p.Glu342Gln) c.1006G>C (p.Glu336Gln) c.1957G>C (p.Glu653Gln) c.1828G>C (p.Glu610Gln) c.1768G>C (p.Glu590Gln) c.2053G>C (p.Glu685Gln) c.2023G>C (p.Glu675Gln) c.1864G>C (p.Glu622Gln) c.1816G>C (p.Glu606Gln) c.1639G>C (p.Glu547Gln) c.1591G>C (p.Glu531Gln) c.982G>C (p.Glu328Gln) n.2077G>C c.1633G>C (p.Glu545Gln) c.1690G>C (p.Glu564Gln) c.1729G>C (p.Glu577Gln) c.1396G>C (p.Glu466Gln) n.1969G>C n.1860G>C | |
1 | g.243426500G>T | CA345667805 | SDCCAG8 | c.1927G>T (p.Glu643Ter) c.1030G>T (p.Glu344Ter) n.134G>T c.1798G>T (p.Glu600Ter) c.1504G>T (p.Glu502Ter) c.1024G>T (p.Glu342Ter) c.1006G>T (p.Glu336Ter) c.1957G>T (p.Glu653Ter) c.1828G>T (p.Glu610Ter) c.1768G>T (p.Glu590Ter) c.2053G>T (p.Glu685Ter) c.2023G>T (p.Glu675Ter) c.1864G>T (p.Glu622Ter) c.1816G>T (p.Glu606Ter) c.1639G>T (p.Glu547Ter) c.1591G>T (p.Glu531Ter) c.982G>T (p.Glu328Ter) n.2077G>T c.1633G>T (p.Glu545Ter) c.1690G>T (p.Glu564Ter) c.1729G>T (p.Glu577Ter) c.1396G>T (p.Glu466Ter) n.1969G>T n.1860G>T | |
1 | g.243426501A>C | CA345667806 | SDCCAG8 | c.1928A>C (p.Glu643Ala) c.1031A>C (p.Glu344Ala) n.135A>C c.1799A>C (p.Glu600Ala) c.1505A>C (p.Glu502Ala) c.1025A>C (p.Glu342Ala) c.1007A>C (p.Glu336Ala) c.1958A>C (p.Glu653Ala) c.1829A>C (p.Glu610Ala) c.1769A>C (p.Glu590Ala) c.2054A>C (p.Glu685Ala) c.2024A>C (p.Glu675Ala) c.1865A>C (p.Glu622Ala) c.1817A>C (p.Glu606Ala) c.1640A>C (p.Glu547Ala) c.1592A>C (p.Glu531Ala) c.983A>C (p.Glu328Ala) n.2078A>C c.1634A>C (p.Glu545Ala) c.1691A>C (p.Glu564Ala) c.1730A>C (p.Glu577Ala) c.1397A>C (p.Glu466Ala) n.1970A>C n.1861A>C | |
1 | g.243426501A>G | CA345667807 | SDCCAG8 | c.1928A>G (p.Glu643Gly) c.1031A>G (p.Glu344Gly) n.135A>G c.1799A>G (p.Glu600Gly) c.1505A>G (p.Glu502Gly) c.1025A>G (p.Glu342Gly) c.1007A>G (p.Glu336Gly) c.1958A>G (p.Glu653Gly) c.1829A>G (p.Glu610Gly) c.1769A>G (p.Glu590Gly) c.2054A>G (p.Glu685Gly) c.2024A>G (p.Glu675Gly) c.1865A>G (p.Glu622Gly) c.1817A>G (p.Glu606Gly) c.1640A>G (p.Glu547Gly) c.1592A>G (p.Glu531Gly) c.983A>G (p.Glu328Gly) n.2078A>G c.1634A>G (p.Glu545Gly) c.1691A>G (p.Glu564Gly) c.1730A>G (p.Glu577Gly) c.1397A>G (p.Glu466Gly) n.1970A>G n.1861A>G | |
1 | g.243426501A>T | CA345667808 | SDCCAG8 | c.1928A>T (p.Glu643Val) c.1031A>T (p.Glu344Val) n.135A>T c.1799A>T (p.Glu600Val) c.1505A>T (p.Glu502Val) c.1025A>T (p.Glu342Val) c.1007A>T (p.Glu336Val) c.1958A>T (p.Glu653Val) c.1829A>T (p.Glu610Val) c.1769A>T (p.Glu590Val) c.2054A>T (p.Glu685Val) c.2024A>T (p.Glu675Val) c.1865A>T (p.Glu622Val) c.1817A>T (p.Glu606Val) c.1640A>T (p.Glu547Val) c.1592A>T (p.Glu531Val) c.983A>T (p.Glu328Val) n.2078A>T c.1634A>T (p.Glu545Val) c.1691A>T (p.Glu564Val) c.1730A>T (p.Glu577Val) c.1397A>T (p.Glu466Val) n.1970A>T n.1861A>T | |
1 | g.243426502A>C | CA345667809 | SDCCAG8 | c.1929A>C (p.Glu643Asp) c.1032A>C (p.Glu344Asp) n.136A>C c.1800A>C (p.Glu600Asp) c.1506A>C (p.Glu502Asp) c.1026A>C (p.Glu342Asp) c.1008A>C (p.Glu336Asp) c.1959A>C (p.Glu653Asp) c.1830A>C (p.Glu610Asp) c.1770A>C (p.Glu590Asp) c.2055A>C (p.Glu685Asp) c.2025A>C (p.Glu675Asp) c.1866A>C (p.Glu622Asp) c.1818A>C (p.Glu606Asp) c.1641A>C (p.Glu547Asp) c.1593A>C (p.Glu531Asp) c.984A>C (p.Glu328Asp) n.2079A>C c.1635A>C (p.Glu545Asp) c.1692A>C (p.Glu564Asp) c.1731A>C (p.Glu577Asp) c.1398A>C (p.Glu466Asp) n.1971A>C n.1862A>C | |
1 | g.243426502A>G | CA424346873 | SDCCAG8 | c.1929A>G (p.Glu643=) c.1032A>G (p.Glu344=) n.136A>G c.1800A>G (p.Glu600=) c.1506A>G (p.Glu502=) c.1026A>G (p.Glu342=) c.1008A>G (p.Glu336=) c.1959A>G (p.Glu653=) c.1830A>G (p.Glu610=) c.1770A>G (p.Glu590=) c.2055A>G (p.Glu685=) c.2025A>G (p.Glu675=) c.1866A>G (p.Glu622=) c.1818A>G (p.Glu606=) c.1641A>G (p.Glu547=) c.1593A>G (p.Glu531=) c.984A>G (p.Glu328=) n.2079A>G c.1635A>G (p.Glu545=) c.1692A>G (p.Glu564=) c.1731A>G (p.Glu577=) c.1398A>G (p.Glu466=) n.1971A>G n.1862A>G | |
1 | g.243426502A>T | CA345667810 | SDCCAG8 | c.1929A>T (p.Glu643Asp) c.1032A>T (p.Glu344Asp) n.136A>T c.1800A>T (p.Glu600Asp) c.1506A>T (p.Glu502Asp) c.1026A>T (p.Glu342Asp) c.1008A>T (p.Glu336Asp) c.1959A>T (p.Glu653Asp) c.1830A>T (p.Glu610Asp) c.1770A>T (p.Glu590Asp) c.2055A>T (p.Glu685Asp) c.2025A>T (p.Glu675Asp) c.1866A>T (p.Glu622Asp) c.1818A>T (p.Glu606Asp) c.1641A>T (p.Glu547Asp) c.1593A>T (p.Glu531Asp) c.984A>T (p.Glu328Asp) n.2079A>T c.1635A>T (p.Glu545Asp) c.1692A>T (p.Glu564Asp) c.1731A>T (p.Glu577Asp) c.1398A>T (p.Glu466Asp) n.1971A>T n.1862A>T | |
1 | g.243426503G>A | CA345667813 | SDCCAG8 | c.1930G>A (p.Glu644Lys) c.1033G>A (p.Glu345Lys) n.137G>A c.1801G>A (p.Glu601Lys) c.1507G>A (p.Glu503Lys) c.1027G>A (p.Glu343Lys) c.1009G>A (p.Glu337Lys) c.1960G>A (p.Glu654Lys) c.1831G>A (p.Glu611Lys) c.1771G>A (p.Glu591Lys) c.2056G>A (p.Glu686Lys) c.2026G>A (p.Glu676Lys) c.1867G>A (p.Glu623Lys) c.1819G>A (p.Glu607Lys) c.1642G>A (p.Glu548Lys) c.1594G>A (p.Glu532Lys) c.985G>A (p.Glu329Lys) n.2080G>A c.1636G>A (p.Glu546Lys) c.1693G>A (p.Glu565Lys) c.1732G>A (p.Glu578Lys) c.1399G>A (p.Glu467Lys) n.1972G>A n.1863G>A | |
1 | g.243426503G>C | CA345667811 | SDCCAG8 | c.1930G>C (p.Glu644Gln) c.1033G>C (p.Glu345Gln) n.137G>C c.1801G>C (p.Glu601Gln) c.1507G>C (p.Glu503Gln) c.1027G>C (p.Glu343Gln) c.1009G>C (p.Glu337Gln) c.1960G>C (p.Glu654Gln) c.1831G>C (p.Glu611Gln) c.1771G>C (p.Glu591Gln) c.2056G>C (p.Glu686Gln) c.2026G>C (p.Glu676Gln) c.1867G>C (p.Glu623Gln) c.1819G>C (p.Glu607Gln) c.1642G>C (p.Glu548Gln) c.1594G>C (p.Glu532Gln) c.985G>C (p.Glu329Gln) n.2080G>C c.1636G>C (p.Glu546Gln) c.1693G>C (p.Glu565Gln) c.1732G>C (p.Glu578Gln) c.1399G>C (p.Glu467Gln) n.1972G>C n.1863G>C | |
1 | g.243426503G>T | CA345667812 | SDCCAG8 | c.1930G>T (p.Glu644Ter) c.1033G>T (p.Glu345Ter) n.137G>T c.1801G>T (p.Glu601Ter) c.1507G>T (p.Glu503Ter) c.1027G>T (p.Glu343Ter) c.1009G>T (p.Glu337Ter) c.1960G>T (p.Glu654Ter) c.1831G>T (p.Glu611Ter) c.1771G>T (p.Glu591Ter) c.2056G>T (p.Glu686Ter) c.2026G>T (p.Glu676Ter) c.1867G>T (p.Glu623Ter) c.1819G>T (p.Glu607Ter) c.1642G>T (p.Glu548Ter) c.1594G>T (p.Glu532Ter) c.985G>T (p.Glu329Ter) n.2080G>T c.1636G>T (p.Glu546Ter) c.1693G>T (p.Glu565Ter) c.1732G>T (p.Glu578Ter) c.1399G>T (p.Glu467Ter) n.1972G>T n.1863G>T | |
1 | g.243426504A= | CA1230390611 | SDCCAG8 | c.1931A= (p.Glu644=) c.1034A= (p.Glu345=) n.138A= c.1802A= (p.Glu601=) c.1508A= (p.Glu503=) c.1028A= (p.Glu343=) c.1010A= (p.Glu337=) c.1961A= (p.Glu654=) c.1832A= (p.Glu611=) c.1772A= (p.Glu591=) c.2057A= (p.Glu686=) c.2027A= (p.Glu676=) c.1868A= (p.Glu623=) c.1820A= (p.Glu607=) c.1643A= (p.Glu548=) c.1595A= (p.Glu532=) c.986A= (p.Glu329=) n.2081A= c.1637A= (p.Glu546=) c.1694A= (p.Glu565=) c.1733A= (p.Glu578=) c.1400A= (p.Glu467=) n.1973A= n.1864A= | |
1 | g.243426504A>C | CA345667814 | SDCCAG8 | c.1931A>C (p.Glu644Ala) c.1034A>C (p.Glu345Ala) n.138A>C c.1802A>C (p.Glu601Ala) c.1508A>C (p.Glu503Ala) c.1028A>C (p.Glu343Ala) c.1010A>C (p.Glu337Ala) c.1961A>C (p.Glu654Ala) c.1832A>C (p.Glu611Ala) c.1772A>C (p.Glu591Ala) c.2057A>C (p.Glu686Ala) c.2027A>C (p.Glu676Ala) c.1868A>C (p.Glu623Ala) c.1820A>C (p.Glu607Ala) c.1643A>C (p.Glu548Ala) c.1595A>C (p.Glu532Ala) c.986A>C (p.Glu329Ala) n.2081A>C c.1637A>C (p.Glu546Ala) c.1694A>C (p.Glu565Ala) c.1733A>C (p.Glu578Ala) c.1400A>C (p.Glu467Ala) n.1973A>C n.1864A>C | |
1 | g.243426504A>G | CA345667815 | SDCCAG8 | c.1931A>G (p.Glu644Gly) c.1034A>G (p.Glu345Gly) n.138A>G c.1802A>G (p.Glu601Gly) c.1508A>G (p.Glu503Gly) c.1028A>G (p.Glu343Gly) c.1010A>G (p.Glu337Gly) c.1961A>G (p.Glu654Gly) c.1832A>G (p.Glu611Gly) c.1772A>G (p.Glu591Gly) c.2057A>G (p.Glu686Gly) c.2027A>G (p.Glu676Gly) c.1868A>G (p.Glu623Gly) c.1820A>G (p.Glu607Gly) c.1643A>G (p.Glu548Gly) c.1595A>G (p.Glu532Gly) c.986A>G (p.Glu329Gly) n.2081A>G c.1637A>G (p.Glu546Gly) c.1694A>G (p.Glu565Gly) c.1733A>G (p.Glu578Gly) c.1400A>G (p.Glu467Gly) n.1973A>G n.1864A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.243426504A>T | CA345667816 | SDCCAG8 | c.1931A>T (p.Glu644Val) c.1034A>T (p.Glu345Val) n.138A>T c.1802A>T (p.Glu601Val) c.1508A>T (p.Glu503Val) c.1028A>T (p.Glu343Val) c.1010A>T (p.Glu337Val) c.1961A>T (p.Glu654Val) c.1832A>T (p.Glu611Val) c.1772A>T (p.Glu591Val) c.2057A>T (p.Glu686Val) c.2027A>T (p.Glu676Val) c.1868A>T (p.Glu623Val) c.1820A>T (p.Glu607Val) c.1643A>T (p.Glu548Val) c.1595A>T (p.Glu532Val) c.986A>T (p.Glu329Val) n.2081A>T c.1637A>T (p.Glu546Val) c.1694A>T (p.Glu565Val) c.1733A>T (p.Glu578Val) c.1400A>T (p.Glu467Val) n.1973A>T n.1864A>T | |
1 | g.243426505A>C | CA345667817 | SDCCAG8 | c.1932A>C (p.Glu644Asp) c.1035A>C (p.Glu345Asp) n.139A>C c.1803A>C (p.Glu601Asp) c.1509A>C (p.Glu503Asp) c.1029A>C (p.Glu343Asp) c.1011A>C (p.Glu337Asp) c.1962A>C (p.Glu654Asp) c.1833A>C (p.Glu611Asp) c.1773A>C (p.Glu591Asp) c.2058A>C (p.Glu686Asp) c.2028A>C (p.Glu676Asp) c.1869A>C (p.Glu623Asp) c.1821A>C (p.Glu607Asp) c.1644A>C (p.Glu548Asp) c.1596A>C (p.Glu532Asp) c.987A>C (p.Glu329Asp) n.2082A>C c.1638A>C (p.Glu546Asp) c.1695A>C (p.Glu565Asp) c.1734A>C (p.Glu578Asp) c.1401A>C (p.Glu467Asp) n.1974A>C n.1865A>C | |
1 | g.243426505A>G | CA424346874 | SDCCAG8 | c.1932A>G (p.Glu644=) c.1035A>G (p.Glu345=) n.139A>G c.1803A>G (p.Glu601=) c.1509A>G (p.Glu503=) c.1029A>G (p.Glu343=) c.1011A>G (p.Glu337=) c.1962A>G (p.Glu654=) c.1833A>G (p.Glu611=) c.1773A>G (p.Glu591=) c.2058A>G (p.Glu686=) c.2028A>G (p.Glu676=) c.1869A>G (p.Glu623=) c.1821A>G (p.Glu607=) c.1644A>G (p.Glu548=) c.1596A>G (p.Glu532=) c.987A>G (p.Glu329=) n.2082A>G c.1638A>G (p.Glu546=) c.1695A>G (p.Glu565=) c.1734A>G (p.Glu578=) c.1401A>G (p.Glu467=) n.1974A>G n.1865A>G | |
1 | g.243426505A>T | CA345667818 | SDCCAG8 | c.1932A>T (p.Glu644Asp) c.1035A>T (p.Glu345Asp) n.139A>T c.1803A>T (p.Glu601Asp) c.1509A>T (p.Glu503Asp) c.1029A>T (p.Glu343Asp) c.1011A>T (p.Glu337Asp) c.1962A>T (p.Glu654Asp) c.1833A>T (p.Glu611Asp) c.1773A>T (p.Glu591Asp) c.2058A>T (p.Glu686Asp) c.2028A>T (p.Glu676Asp) c.1869A>T (p.Glu623Asp) c.1821A>T (p.Glu607Asp) c.1644A>T (p.Glu548Asp) c.1596A>T (p.Glu532Asp) c.987A>T (p.Glu329Asp) n.2082A>T c.1638A>T (p.Glu546Asp) c.1695A>T (p.Glu565Asp) c.1734A>T (p.Glu578Asp) c.1401A>T (p.Glu467Asp) n.1974A>T n.1865A>T | |
1 | g.243426506T>A | CA41009609 | SDCCAG8 | c.1933T>A (p.Leu645Met) c.1036T>A (p.Leu346Met) n.140T>A c.1804T>A (p.Leu602Met) c.1510T>A (p.Leu504Met) c.1030T>A (p.Leu344Met) c.1012T>A (p.Leu338Met) c.1963T>A (p.Leu655Met) c.1834T>A (p.Leu612Met) c.1774T>A (p.Leu592Met) c.2059T>A (p.Leu687Met) c.2029T>A (p.Leu677Met) c.1870T>A (p.Leu624Met) c.1822T>A (p.Leu608Met) c.1645T>A (p.Leu549Met) c.1597T>A (p.Leu533Met) c.988T>A (p.Leu330Met) n.2083T>A c.1639T>A (p.Leu547Met) c.1696T>A (p.Leu566Met) c.1735T>A (p.Leu579Met) c.1402T>A (p.Leu468Met) n.1975T>A n.1866T>A | ClinVar dbSNP gnomAD v4 |
1 | g.243426506T>C | CA424346875 | SDCCAG8 | c.1933T>C (p.Leu645=) c.1036T>C (p.Leu346=) n.140T>C c.1804T>C (p.Leu602=) c.1510T>C (p.Leu504=) c.1030T>C (p.Leu344=) c.1012T>C (p.Leu338=) c.1963T>C (p.Leu655=) c.1834T>C (p.Leu612=) c.1774T>C (p.Leu592=) c.2059T>C (p.Leu687=) c.2029T>C (p.Leu677=) c.1870T>C (p.Leu624=) c.1822T>C (p.Leu608=) c.1645T>C (p.Leu549=) c.1597T>C (p.Leu533=) c.988T>C (p.Leu330=) n.2083T>C c.1639T>C (p.Leu547=) c.1696T>C (p.Leu566=) c.1735T>C (p.Leu579=) c.1402T>C (p.Leu468=) n.1975T>C n.1866T>C | |
1 | g.243426506T>G | CA345667819 | SDCCAG8 | c.1933T>G (p.Leu645Val) c.1036T>G (p.Leu346Val) n.140T>G c.1804T>G (p.Leu602Val) c.1510T>G (p.Leu504Val) c.1030T>G (p.Leu344Val) c.1012T>G (p.Leu338Val) c.1963T>G (p.Leu655Val) c.1834T>G (p.Leu612Val) c.1774T>G (p.Leu592Val) c.2059T>G (p.Leu687Val) c.2029T>G (p.Leu677Val) c.1870T>G (p.Leu624Val) c.1822T>G (p.Leu608Val) c.1645T>G (p.Leu549Val) c.1597T>G (p.Leu533Val) c.988T>G (p.Leu330Val) n.2083T>G c.1639T>G (p.Leu547Val) c.1696T>G (p.Leu566Val) c.1735T>G (p.Leu579Val) c.1402T>G (p.Leu468Val) n.1975T>G n.1866T>G | |
1 | g.243426506T= | CA1142448067 | SDCCAG8 | c.1933T= (p.Leu645=) c.1036T= (p.Leu346=) n.140T= c.1804T= (p.Leu602=) c.1510T= (p.Leu504=) c.1030T= (p.Leu344=) c.1012T= (p.Leu338=) c.1963T= (p.Leu655=) c.1834T= (p.Leu612=) c.1774T= (p.Leu592=) c.2059T= (p.Leu687=) c.2029T= (p.Leu677=) c.1870T= (p.Leu624=) c.1822T= (p.Leu608=) c.1645T= (p.Leu549=) c.1597T= (p.Leu533=) c.988T= (p.Leu330=) n.2083T= c.1639T= (p.Leu547=) c.1696T= (p.Leu566=) c.1735T= (p.Leu579=) c.1402T= (p.Leu468=) n.1975T= n.1866T= | |
1 | g.243426507T>A | CA345667820 | SDCCAG8 | c.1934T>A (p.Leu645Ter) c.1037T>A (p.Leu346Ter) n.141T>A c.1805T>A (p.Leu602Ter) c.1511T>A (p.Leu504Ter) c.1031T>A (p.Leu344Ter) c.1013T>A (p.Leu338Ter) c.1964T>A (p.Leu655Ter) c.1835T>A (p.Leu612Ter) c.1775T>A (p.Leu592Ter) c.2060T>A (p.Leu687Ter) c.2030T>A (p.Leu677Ter) c.1871T>A (p.Leu624Ter) c.1823T>A (p.Leu608Ter) c.1646T>A (p.Leu549Ter) c.1598T>A (p.Leu533Ter) c.989T>A (p.Leu330Ter) n.2084T>A c.1640T>A (p.Leu547Ter) c.1697T>A (p.Leu566Ter) c.1736T>A (p.Leu579Ter) c.1403T>A (p.Leu468Ter) n.1976T>A n.1867T>A | |
1 | g.243426507T>C | CA345667821 | SDCCAG8 | c.1934T>C (p.Leu645Ser) c.1037T>C (p.Leu346Ser) n.141T>C c.1805T>C (p.Leu602Ser) c.1511T>C (p.Leu504Ser) c.1031T>C (p.Leu344Ser) c.1013T>C (p.Leu338Ser) c.1964T>C (p.Leu655Ser) c.1835T>C (p.Leu612Ser) c.1775T>C (p.Leu592Ser) c.2060T>C (p.Leu687Ser) c.2030T>C (p.Leu677Ser) c.1871T>C (p.Leu624Ser) c.1823T>C (p.Leu608Ser) c.1646T>C (p.Leu549Ser) c.1598T>C (p.Leu533Ser) c.989T>C (p.Leu330Ser) n.2084T>C c.1640T>C (p.Leu547Ser) c.1697T>C (p.Leu566Ser) c.1736T>C (p.Leu579Ser) c.1403T>C (p.Leu468Ser) n.1976T>C n.1867T>C | |
1 | g.243426507T>G | CA345667822 | SDCCAG8 | c.1934T>G (p.Leu645Trp) c.1037T>G (p.Leu346Trp) n.141T>G c.1805T>G (p.Leu602Trp) c.1511T>G (p.Leu504Trp) c.1031T>G (p.Leu344Trp) c.1013T>G (p.Leu338Trp) c.1964T>G (p.Leu655Trp) c.1835T>G (p.Leu612Trp) c.1775T>G (p.Leu592Trp) c.2060T>G (p.Leu687Trp) c.2030T>G (p.Leu677Trp) c.1871T>G (p.Leu624Trp) c.1823T>G (p.Leu608Trp) c.1646T>G (p.Leu549Trp) c.1598T>G (p.Leu533Trp) c.989T>G (p.Leu330Trp) n.2084T>G c.1640T>G (p.Leu547Trp) c.1697T>G (p.Leu566Trp) c.1736T>G (p.Leu579Trp) c.1403T>G (p.Leu468Trp) n.1976T>G n.1867T>G | |
1 | g.243426508G>A | CA1483778 | SDCCAG8 | c.1935G>A (p.Leu645=) c.1038G>A (p.Leu346=) n.142G>A c.1806G>A (p.Leu602=) c.1512G>A (p.Leu504=) c.1032G>A (p.Leu344=) c.1014G>A (p.Leu338=) c.1965G>A (p.Leu655=) c.1836G>A (p.Leu612=) c.1776G>A (p.Leu592=) c.2061G>A (p.Leu687=) c.2031G>A (p.Leu677=) c.1872G>A (p.Leu624=) c.1824G>A (p.Leu608=) c.1647G>A (p.Leu549=) c.1599G>A (p.Leu533=) c.990G>A (p.Leu330=) n.2085G>A c.1641G>A (p.Leu547=) c.1698G>A (p.Leu566=) c.1737G>A (p.Leu579=) c.1404G>A (p.Leu468=) n.1977G>A n.1868G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.243426508G>C | CA1483779 | SDCCAG8 | c.1935G>C (p.Leu645Phe) c.1038G>C (p.Leu346Phe) n.142G>C c.1806G>C (p.Leu602Phe) c.1512G>C (p.Leu504Phe) c.1032G>C (p.Leu344Phe) c.1014G>C (p.Leu338Phe) c.1965G>C (p.Leu655Phe) c.1836G>C (p.Leu612Phe) c.1776G>C (p.Leu592Phe) c.2061G>C (p.Leu687Phe) c.2031G>C (p.Leu677Phe) c.1872G>C (p.Leu624Phe) c.1824G>C (p.Leu608Phe) c.1647G>C (p.Leu549Phe) c.1599G>C (p.Leu533Phe) c.990G>C (p.Leu330Phe) n.2085G>C c.1641G>C (p.Leu547Phe) c.1698G>C (p.Leu566Phe) c.1737G>C (p.Leu579Phe) c.1404G>C (p.Leu468Phe) n.1977G>C n.1868G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.243426508G= | CA1142810849 | SDCCAG8 | c.1935G= (p.Leu645=) c.1038G= (p.Leu346=) n.142G= c.1806G= (p.Leu602=) c.1512G= (p.Leu504=) c.1032G= (p.Leu344=) c.1014G= (p.Leu338=) c.1965G= (p.Leu655=) c.1836G= (p.Leu612=) c.1776G= (p.Leu592=) c.2061G= (p.Leu687=) c.2031G= (p.Leu677=) c.1872G= (p.Leu624=) c.1824G= (p.Leu608=) c.1647G= (p.Leu549=) c.1599G= (p.Leu533=) c.990G= (p.Leu330=) n.2085G= c.1641G= (p.Leu547=) c.1698G= (p.Leu566=) c.1737G= (p.Leu579=) c.1404G= (p.Leu468=) n.1977G= n.1868G= | |
1 | g.243426508G>T | CA345667823 | SDCCAG8 | c.1935G>T (p.Leu645Phe) c.1038G>T (p.Leu346Phe) n.142G>T c.1806G>T (p.Leu602Phe) c.1512G>T (p.Leu504Phe) c.1032G>T (p.Leu344Phe) c.1014G>T (p.Leu338Phe) c.1965G>T (p.Leu655Phe) c.1836G>T (p.Leu612Phe) c.1776G>T (p.Leu592Phe) c.2061G>T (p.Leu687Phe) c.2031G>T (p.Leu677Phe) c.1872G>T (p.Leu624Phe) c.1824G>T (p.Leu608Phe) c.1647G>T (p.Leu549Phe) c.1599G>T (p.Leu533Phe) c.990G>T (p.Leu330Phe) n.2085G>T c.1641G>T (p.Leu547Phe) c.1698G>T (p.Leu566Phe) c.1737G>T (p.Leu579Phe) c.1404G>T (p.Leu468Phe) n.1977G>T n.1868G>T | |
1 | g.243426509G>A | CA41009610 | SDCCAG8 | c.1936G>A (p.Glu646Lys) c.1039G>A (p.Glu347Lys) n.143G>A c.1807G>A (p.Glu603Lys) c.1513G>A (p.Glu505Lys) c.1033G>A (p.Glu345Lys) c.1015G>A (p.Glu339Lys) c.1966G>A (p.Glu656Lys) c.1837G>A (p.Glu613Lys) c.1777G>A (p.Glu593Lys) c.2062G>A (p.Glu688Lys) c.2032G>A (p.Glu678Lys) c.1873G>A (p.Glu625Lys) c.1825G>A (p.Glu609Lys) c.1648G>A (p.Glu550Lys) c.1600G>A (p.Glu534Lys) c.991G>A (p.Glu331Lys) n.2086G>A c.1642G>A (p.Glu548Lys) c.1699G>A (p.Glu567Lys) c.1738G>A (p.Glu580Lys) c.1405G>A (p.Glu469Lys) n.1978G>A n.1869G>A | dbSNP |
1 | g.243426509G>C | CA345667825 | SDCCAG8 | c.1936G>C (p.Glu646Gln) c.1039G>C (p.Glu347Gln) n.143G>C c.1807G>C (p.Glu603Gln) c.1513G>C (p.Glu505Gln) c.1033G>C (p.Glu345Gln) c.1015G>C (p.Glu339Gln) c.1966G>C (p.Glu656Gln) c.1837G>C (p.Glu613Gln) c.1777G>C (p.Glu593Gln) c.2062G>C (p.Glu688Gln) c.2032G>C (p.Glu678Gln) c.1873G>C (p.Glu625Gln) c.1825G>C (p.Glu609Gln) c.1648G>C (p.Glu550Gln) c.1600G>C (p.Glu534Gln) c.991G>C (p.Glu331Gln) n.2086G>C c.1642G>C (p.Glu548Gln) c.1699G>C (p.Glu567Gln) c.1738G>C (p.Glu580Gln) c.1405G>C (p.Glu469Gln) n.1978G>C n.1869G>C | |
1 | g.243426509G= | CA1230390612 | SDCCAG8 | c.1936G= (p.Glu646=) c.1039G= (p.Glu347=) n.143G= c.1807G= (p.Glu603=) c.1513G= (p.Glu505=) c.1033G= (p.Glu345=) c.1015G= (p.Glu339=) c.1966G= (p.Glu656=) c.1837G= (p.Glu613=) c.1777G= (p.Glu593=) c.2062G= (p.Glu688=) c.2032G= (p.Glu678=) c.1873G= (p.Glu625=) c.1825G= (p.Glu609=) c.1648G= (p.Glu550=) c.1600G= (p.Glu534=) c.991G= (p.Glu331=) n.2086G= c.1642G= (p.Glu548=) c.1699G= (p.Glu567=) c.1738G= (p.Glu580=) c.1405G= (p.Glu469=) n.1978G= n.1869G= | |
1 | g.243426509G>T | CA345667824 | SDCCAG8 | c.1936G>T (p.Glu646Ter) c.1039G>T (p.Glu347Ter) n.143G>T c.1807G>T (p.Glu603Ter) c.1513G>T (p.Glu505Ter) c.1033G>T (p.Glu345Ter) c.1015G>T (p.Glu339Ter) c.1966G>T (p.Glu656Ter) c.1837G>T (p.Glu613Ter) c.1777G>T (p.Glu593Ter) c.2062G>T (p.Glu688Ter) c.2032G>T (p.Glu678Ter) c.1873G>T (p.Glu625Ter) c.1825G>T (p.Glu609Ter) c.1648G>T (p.Glu550Ter) c.1600G>T (p.Glu534Ter) c.991G>T (p.Glu331Ter) n.2086G>T c.1642G>T (p.Glu548Ter) c.1699G>T (p.Glu567Ter) c.1738G>T (p.Glu580Ter) c.1405G>T (p.Glu469Ter) n.1978G>T n.1869G>T | |
1 | g.243426510A>C | CA345667826 | SDCCAG8 | c.1937A>C (p.Glu646Ala) c.1040A>C (p.Glu347Ala) n.144A>C c.1808A>C (p.Glu603Ala) c.1514A>C (p.Glu505Ala) c.1034A>C (p.Glu345Ala) c.1016A>C (p.Glu339Ala) c.1967A>C (p.Glu656Ala) c.1838A>C (p.Glu613Ala) c.1778A>C (p.Glu593Ala) c.2063A>C (p.Glu688Ala) c.2033A>C (p.Glu678Ala) c.1874A>C (p.Glu625Ala) c.1826A>C (p.Glu609Ala) c.1649A>C (p.Glu550Ala) c.1601A>C (p.Glu534Ala) c.992A>C (p.Glu331Ala) n.2087A>C c.1643A>C (p.Glu548Ala) c.1700A>C (p.Glu567Ala) c.1739A>C (p.Glu580Ala) c.1406A>C (p.Glu469Ala) n.1979A>C n.1870A>C | |
1 | g.243426510A>G | CA345667827 | SDCCAG8 | c.1937A>G (p.Glu646Gly) c.1040A>G (p.Glu347Gly) n.144A>G c.1808A>G (p.Glu603Gly) c.1514A>G (p.Glu505Gly) c.1034A>G (p.Glu345Gly) c.1016A>G (p.Glu339Gly) c.1967A>G (p.Glu656Gly) c.1838A>G (p.Glu613Gly) c.1778A>G (p.Glu593Gly) c.2063A>G (p.Glu688Gly) c.2033A>G (p.Glu678Gly) c.1874A>G (p.Glu625Gly) c.1826A>G (p.Glu609Gly) c.1649A>G (p.Glu550Gly) c.1601A>G (p.Glu534Gly) c.992A>G (p.Glu331Gly) n.2087A>G c.1643A>G (p.Glu548Gly) c.1700A>G (p.Glu567Gly) c.1739A>G (p.Glu580Gly) c.1406A>G (p.Glu469Gly) n.1979A>G n.1870A>G | |
1 | g.243426510A>T | CA345667828 | SDCCAG8 | c.1937A>T (p.Glu646Val) c.1040A>T (p.Glu347Val) n.144A>T c.1808A>T (p.Glu603Val) c.1514A>T (p.Glu505Val) c.1034A>T (p.Glu345Val) c.1016A>T (p.Glu339Val) c.1967A>T (p.Glu656Val) c.1838A>T (p.Glu613Val) c.1778A>T (p.Glu593Val) c.2063A>T (p.Glu688Val) c.2033A>T (p.Glu678Val) c.1874A>T (p.Glu625Val) c.1826A>T (p.Glu609Val) c.1649A>T (p.Glu550Val) c.1601A>T (p.Glu534Val) c.992A>T (p.Glu331Val) n.2087A>T c.1643A>T (p.Glu548Val) c.1700A>T (p.Glu567Val) c.1739A>T (p.Glu580Val) c.1406A>T (p.Glu469Val) n.1979A>T n.1870A>T | |
1 | g.243426511G>A | CA424346877 | SDCCAG8 | c.1938G>A (p.Glu646=) c.1041G>A (p.Glu347=) n.145G>A c.1809G>A (p.Glu603=) c.1515G>A (p.Glu505=) c.1035G>A (p.Glu345=) c.1017G>A (p.Glu339=) c.1968G>A (p.Glu656=) c.1839G>A (p.Glu613=) c.1779G>A (p.Glu593=) c.2064G>A (p.Glu688=) c.2034G>A (p.Glu678=) c.1875G>A (p.Glu625=) c.1827G>A (p.Glu609=) c.1650G>A (p.Glu550=) c.1602G>A (p.Glu534=) c.993G>A (p.Glu331=) n.2088G>A c.1644G>A (p.Glu548=) c.1701G>A (p.Glu567=) c.1740G>A (p.Glu580=) c.1407G>A (p.Glu469=) n.1980G>A n.1871G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.243426511G>C | CA345667829 | SDCCAG8 | c.1938G>C (p.Glu646Asp) c.1041G>C (p.Glu347Asp) n.145G>C c.1809G>C (p.Glu603Asp) c.1515G>C (p.Glu505Asp) c.1035G>C (p.Glu345Asp) c.1017G>C (p.Glu339Asp) c.1968G>C (p.Glu656Asp) c.1839G>C (p.Glu613Asp) c.1779G>C (p.Glu593Asp) c.2064G>C (p.Glu688Asp) c.2034G>C (p.Glu678Asp) c.1875G>C (p.Glu625Asp) c.1827G>C (p.Glu609Asp) c.1650G>C (p.Glu550Asp) c.1602G>C (p.Glu534Asp) c.993G>C (p.Glu331Asp) n.2088G>C c.1644G>C (p.Glu548Asp) c.1701G>C (p.Glu567Asp) c.1740G>C (p.Glu580Asp) c.1407G>C (p.Glu469Asp) n.1980G>C n.1871G>C | |
1 | g.243426511G= | CA1230390613 | SDCCAG8 | c.1938G= (p.Glu646=) c.1041G= (p.Glu347=) n.145G= c.1809G= (p.Glu603=) c.1515G= (p.Glu505=) c.1035G= (p.Glu345=) c.1017G= (p.Glu339=) c.1968G= (p.Glu656=) c.1839G= (p.Glu613=) c.1779G= (p.Glu593=) c.2064G= (p.Glu688=) c.2034G= (p.Glu678=) c.1875G= (p.Glu625=) c.1827G= (p.Glu609=) c.1650G= (p.Glu550=) c.1602G= (p.Glu534=) c.993G= (p.Glu331=) n.2088G= c.1644G= (p.Glu548=) c.1701G= (p.Glu567=) c.1740G= (p.Glu580=) c.1407G= (p.Glu469=) n.1980G= n.1871G= | |
1 | g.243426511G>T | CA345667830 | SDCCAG8 | c.1938G>T (p.Glu646Asp) c.1041G>T (p.Glu347Asp) n.145G>T c.1809G>T (p.Glu603Asp) c.1515G>T (p.Glu505Asp) c.1035G>T (p.Glu345Asp) c.1017G>T (p.Glu339Asp) c.1968G>T (p.Glu656Asp) c.1839G>T (p.Glu613Asp) c.1779G>T (p.Glu593Asp) c.2064G>T (p.Glu688Asp) c.2034G>T (p.Glu678Asp) c.1875G>T (p.Glu625Asp) c.1827G>T (p.Glu609Asp) c.1650G>T (p.Glu550Asp) c.1602G>T (p.Glu534Asp) c.993G>T (p.Glu331Asp) n.2088G>T c.1644G>T (p.Glu548Asp) c.1701G>T (p.Glu567Asp) c.1740G>T (p.Glu580Asp) c.1407G>T (p.Glu469Asp) n.1980G>T n.1871G>T | |
1 | g.243426512G>A | CA345667831 | SDCCAG8 | c.1939G>A (p.Glu647Lys) c.1042G>A (p.Glu348Lys) n.146G>A c.1810G>A (p.Glu604Lys) c.1516G>A (p.Glu506Lys) c.1036G>A (p.Glu346Lys) c.1018G>A (p.Glu340Lys) c.1969G>A (p.Glu657Lys) c.1840G>A (p.Glu614Lys) c.1780G>A (p.Glu594Lys) c.2065G>A (p.Glu689Lys) c.2035G>A (p.Glu679Lys) c.1876G>A (p.Glu626Lys) c.1828G>A (p.Glu610Lys) c.1651G>A (p.Glu551Lys) c.1603G>A (p.Glu535Lys) c.994G>A (p.Glu332Lys) n.2089G>A c.1645G>A (p.Glu549Lys) c.1702G>A (p.Glu568Lys) c.1741G>A (p.Glu581Lys) c.1408G>A (p.Glu470Lys) n.1981G>A n.1872G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.243426512G>C | CA345667832 | SDCCAG8 | c.1939G>C (p.Glu647Gln) c.1042G>C (p.Glu348Gln) n.146G>C c.1810G>C (p.Glu604Gln) c.1516G>C (p.Glu506Gln) c.1036G>C (p.Glu346Gln) c.1018G>C (p.Glu340Gln) c.1969G>C (p.Glu657Gln) c.1840G>C (p.Glu614Gln) c.1780G>C (p.Glu594Gln) c.2065G>C (p.Glu689Gln) c.2035G>C (p.Glu679Gln) c.1876G>C (p.Glu626Gln) c.1828G>C (p.Glu610Gln) c.1651G>C (p.Glu551Gln) c.1603G>C (p.Glu535Gln) c.994G>C (p.Glu332Gln) n.2089G>C c.1645G>C (p.Glu549Gln) c.1702G>C (p.Glu568Gln) c.1741G>C (p.Glu581Gln) c.1408G>C (p.Glu470Gln) n.1981G>C n.1872G>C | |
1 | g.243426512G= | CA1230390614 | SDCCAG8 | c.1939G= (p.Glu647=) c.1042G= (p.Glu348=) n.146G= c.1810G= (p.Glu604=) c.1516G= (p.Glu506=) c.1036G= (p.Glu346=) c.1018G= (p.Glu340=) c.1969G= (p.Glu657=) c.1840G= (p.Glu614=) c.1780G= (p.Glu594=) c.2065G= (p.Glu689=) c.2035G= (p.Glu679=) c.1876G= (p.Glu626=) c.1828G= (p.Glu610=) c.1651G= (p.Glu551=) c.1603G= (p.Glu535=) c.994G= (p.Glu332=) n.2089G= c.1645G= (p.Glu549=) c.1702G= (p.Glu568=) c.1741G= (p.Glu581=) c.1408G= (p.Glu470=) n.1981G= n.1872G= | |
1 | g.243426512G>T | CA345667833 | SDCCAG8 | c.1939G>T (p.Glu647Ter) c.1042G>T (p.Glu348Ter) n.146G>T c.1810G>T (p.Glu604Ter) c.1516G>T (p.Glu506Ter) c.1036G>T (p.Glu346Ter) c.1018G>T (p.Glu340Ter) c.1969G>T (p.Glu657Ter) c.1840G>T (p.Glu614Ter) c.1780G>T (p.Glu594Ter) c.2065G>T (p.Glu689Ter) c.2035G>T (p.Glu679Ter) c.1876G>T (p.Glu626Ter) c.1828G>T (p.Glu610Ter) c.1651G>T (p.Glu551Ter) c.1603G>T (p.Glu535Ter) c.994G>T (p.Glu332Ter) n.2089G>T c.1645G>T (p.Glu549Ter) c.1702G>T (p.Glu568Ter) c.1741G>T (p.Glu581Ter) c.1408G>T (p.Glu470Ter) n.1981G>T n.1872G>T | |
1 | g.243426513A= | CA1230390615 | SDCCAG8 | c.1940A= (p.Glu647=) c.1043A= (p.Glu348=) n.147A= c.1811A= (p.Glu604=) c.1517A= (p.Glu506=) c.1037A= (p.Glu346=) c.1019A= (p.Glu340=) c.1970A= (p.Glu657=) c.1841A= (p.Glu614=) c.1781A= (p.Glu594=) c.2066A= (p.Glu689=) c.2036A= (p.Glu679=) c.1877A= (p.Glu626=) c.1829A= (p.Glu610=) c.1652A= (p.Glu551=) c.1604A= (p.Glu535=) c.995A= (p.Glu332=) n.2090A= c.1646A= (p.Glu549=) c.1703A= (p.Glu568=) c.1742A= (p.Glu581=) c.1409A= (p.Glu470=) n.1982A= n.1873A= | |
1 | g.243426513A>C | CA345667834 | SDCCAG8 | c.1940A>C (p.Glu647Ala) c.1043A>C (p.Glu348Ala) n.147A>C c.1811A>C (p.Glu604Ala) c.1517A>C (p.Glu506Ala) c.1037A>C (p.Glu346Ala) c.1019A>C (p.Glu340Ala) c.1970A>C (p.Glu657Ala) c.1841A>C (p.Glu614Ala) c.1781A>C (p.Glu594Ala) c.2066A>C (p.Glu689Ala) c.2036A>C (p.Glu679Ala) c.1877A>C (p.Glu626Ala) c.1829A>C (p.Glu610Ala) c.1652A>C (p.Glu551Ala) c.1604A>C (p.Glu535Ala) c.995A>C (p.Glu332Ala) n.2090A>C c.1646A>C (p.Glu549Ala) c.1703A>C (p.Glu568Ala) c.1742A>C (p.Glu581Ala) c.1409A>C (p.Glu470Ala) n.1982A>C n.1873A>C | |
1 | g.243426513A>G | CA345667835 | SDCCAG8 | c.1940A>G (p.Glu647Gly) c.1043A>G (p.Glu348Gly) n.147A>G c.1811A>G (p.Glu604Gly) c.1517A>G (p.Glu506Gly) c.1037A>G (p.Glu346Gly) c.1019A>G (p.Glu340Gly) c.1970A>G (p.Glu657Gly) c.1841A>G (p.Glu614Gly) c.1781A>G (p.Glu594Gly) c.2066A>G (p.Glu689Gly) c.2036A>G (p.Glu679Gly) c.1877A>G (p.Glu626Gly) c.1829A>G (p.Glu610Gly) c.1652A>G (p.Glu551Gly) c.1604A>G (p.Glu535Gly) c.995A>G (p.Glu332Gly) n.2090A>G c.1646A>G (p.Glu549Gly) c.1703A>G (p.Glu568Gly) c.1742A>G (p.Glu581Gly) c.1409A>G (p.Glu470Gly) n.1982A>G n.1873A>G | |
1 | g.243426513A>T | CA345667836 | SDCCAG8 | c.1940A>T (p.Glu647Val) c.1043A>T (p.Glu348Val) n.147A>T c.1811A>T (p.Glu604Val) c.1517A>T (p.Glu506Val) c.1037A>T (p.Glu346Val) c.1019A>T (p.Glu340Val) c.1970A>T (p.Glu657Val) c.1841A>T (p.Glu614Val) c.1781A>T (p.Glu594Val) c.2066A>T (p.Glu689Val) c.2036A>T (p.Glu679Val) c.1877A>T (p.Glu626Val) c.1829A>T (p.Glu610Val) c.1652A>T (p.Glu551Val) c.1604A>T (p.Glu535Val) c.995A>T (p.Glu332Val) n.2090A>T c.1646A>T (p.Glu549Val) c.1703A>T (p.Glu568Val) c.1742A>T (p.Glu581Val) c.1409A>T (p.Glu470Val) n.1982A>T n.1873A>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.243426514A>C | CA345667837 | SDCCAG8 | c.1941A>C (p.Glu647Asp) c.1044A>C (p.Glu348Asp) n.148A>C c.1812A>C (p.Glu604Asp) c.1518A>C (p.Glu506Asp) c.1038A>C (p.Glu346Asp) c.1020A>C (p.Glu340Asp) c.1971A>C (p.Glu657Asp) c.1842A>C (p.Glu614Asp) c.1782A>C (p.Glu594Asp) c.2067A>C (p.Glu689Asp) c.2037A>C (p.Glu679Asp) c.1878A>C (p.Glu626Asp) c.1830A>C (p.Glu610Asp) c.1653A>C (p.Glu551Asp) c.1605A>C (p.Glu535Asp) c.996A>C (p.Glu332Asp) n.2091A>C c.1647A>C (p.Glu549Asp) c.1704A>C (p.Glu568Asp) c.1743A>C (p.Glu581Asp) c.1410A>C (p.Glu470Asp) n.1983A>C n.1874A>C | |
1 | g.243426514A>G | CA424346878 | SDCCAG8 | c.1941A>G (p.Glu647=) c.1044A>G (p.Glu348=) n.148A>G c.1812A>G (p.Glu604=) c.1518A>G (p.Glu506=) c.1038A>G (p.Glu346=) c.1020A>G (p.Glu340=) c.1971A>G (p.Glu657=) c.1842A>G (p.Glu614=) c.1782A>G (p.Glu594=) c.2067A>G (p.Glu689=) c.2037A>G (p.Glu679=) c.1878A>G (p.Glu626=) c.1830A>G (p.Glu610=) c.1653A>G (p.Glu551=) c.1605A>G (p.Glu535=) c.996A>G (p.Glu332=) n.2091A>G c.1647A>G (p.Glu549=) c.1704A>G (p.Glu568=) c.1743A>G (p.Glu581=) c.1410A>G (p.Glu470=) n.1983A>G n.1874A>G | dbSNP |
1 | g.243426514A>T | CA345667838 | SDCCAG8 | c.1941A>T (p.Glu647Asp) c.1044A>T (p.Glu348Asp) n.148A>T c.1812A>T (p.Glu604Asp) c.1518A>T (p.Glu506Asp) c.1038A>T (p.Glu346Asp) c.1020A>T (p.Glu340Asp) c.1971A>T (p.Glu657Asp) c.1842A>T (p.Glu614Asp) c.1782A>T (p.Glu594Asp) c.2067A>T (p.Glu689Asp) c.2037A>T (p.Glu679Asp) c.1878A>T (p.Glu626Asp) c.1830A>T (p.Glu610Asp) c.1653A>T (p.Glu551Asp) c.1605A>T (p.Glu535Asp) c.996A>T (p.Glu332Asp) n.2091A>T c.1647A>T (p.Glu549Asp) c.1704A>T (p.Glu568Asp) c.1743A>T (p.Glu581Asp) c.1410A>T (p.Glu470Asp) n.1983A>T n.1874A>T | gnomAD v4 |
1 | g.243426515C>A | CA345667839 | SDCCAG8 | c.1942C>A (p.Gln648Lys) c.1045C>A (p.Gln349Lys) n.149C>A c.1813C>A (p.Gln605Lys) c.1519C>A (p.Gln507Lys) c.1039C>A (p.Gln347Lys) c.1021C>A (p.Gln341Lys) c.1972C>A (p.Gln658Lys) c.1843C>A (p.Gln615Lys) c.1783C>A (p.Gln595Lys) c.2068C>A (p.Gln690Lys) c.2038C>A (p.Gln680Lys) c.1879C>A (p.Gln627Lys) c.1831C>A (p.Gln611Lys) c.1654C>A (p.Gln552Lys) c.1606C>A (p.Gln536Lys) c.997C>A (p.Gln333Lys) n.2092C>A c.1648C>A (p.Gln550Lys) c.1705C>A (p.Gln569Lys) c.1744C>A (p.Gln582Lys) c.1411C>A (p.Gln471Lys) n.1984C>A n.1875C>A | |
1 | g.243426515C= | CA1143540418 | SDCCAG8 | c.1942C= (p.Gln648=) c.1045C= (p.Gln349=) n.149C= c.1813C= (p.Gln605=) c.1519C= (p.Gln507=) c.1039C= (p.Gln347=) c.1021C= (p.Gln341=) c.1972C= (p.Gln658=) c.1843C= (p.Gln615=) c.1783C= (p.Gln595=) c.2068C= (p.Gln690=) c.2038C= (p.Gln680=) c.1879C= (p.Gln627=) c.1831C= (p.Gln611=) c.1654C= (p.Gln552=) c.1606C= (p.Gln536=) c.997C= (p.Gln333=) n.2092C= c.1648C= (p.Gln550=) c.1705C= (p.Gln569=) c.1744C= (p.Gln582=) c.1411C= (p.Gln471=) n.1984C= n.1875C= | |
1 | g.243426515C>G | CA345667840 | SDCCAG8 | c.1942C>G (p.Gln648Glu) c.1045C>G (p.Gln349Glu) n.149C>G c.1813C>G (p.Gln605Glu) c.1519C>G (p.Gln507Glu) c.1039C>G (p.Gln347Glu) c.1021C>G (p.Gln341Glu) c.1972C>G (p.Gln658Glu) c.1843C>G (p.Gln615Glu) c.1783C>G (p.Gln595Glu) c.2068C>G (p.Gln690Glu) c.2038C>G (p.Gln680Glu) c.1879C>G (p.Gln627Glu) c.1831C>G (p.Gln611Glu) c.1654C>G (p.Gln552Glu) c.1606C>G (p.Gln536Glu) c.997C>G (p.Gln333Glu) n.2092C>G c.1648C>G (p.Gln550Glu) c.1705C>G (p.Gln569Glu) c.1744C>G (p.Gln582Glu) c.1411C>G (p.Gln471Glu) n.1984C>G n.1875C>G | |
1 | g.243426515C>T | CA1483780 | SDCCAG8 | c.1942C>T (p.Gln648Ter) c.1045C>T (p.Gln349Ter) n.149C>T c.1813C>T (p.Gln605Ter) c.1519C>T (p.Gln507Ter) c.1039C>T (p.Gln347Ter) c.1021C>T (p.Gln341Ter) c.1972C>T (p.Gln658Ter) c.1843C>T (p.Gln615Ter) c.1783C>T (p.Gln595Ter) c.2068C>T (p.Gln690Ter) c.2038C>T (p.Gln680Ter) c.1879C>T (p.Gln627Ter) c.1831C>T (p.Gln611Ter) c.1654C>T (p.Gln552Ter) c.1606C>T (p.Gln536Ter) c.997C>T (p.Gln333Ter) n.2092C>T c.1648C>T (p.Gln550Ter) c.1705C>T (p.Gln569Ter) c.1744C>T (p.Gln582Ter) c.1411C>T (p.Gln471Ter) n.1984C>T n.1875C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.243426516A>C | CA345667841 | SDCCAG8 | c.1943A>C (p.Gln648Pro) c.1046A>C (p.Gln349Pro) n.150A>C c.1814A>C (p.Gln605Pro) c.1520A>C (p.Gln507Pro) c.1040A>C (p.Gln347Pro) c.1022A>C (p.Gln341Pro) c.1973A>C (p.Gln658Pro) c.1844A>C (p.Gln615Pro) c.1784A>C (p.Gln595Pro) c.2069A>C (p.Gln690Pro) c.2039A>C (p.Gln680Pro) c.1880A>C (p.Gln627Pro) c.1832A>C (p.Gln611Pro) c.1655A>C (p.Gln552Pro) c.1607A>C (p.Gln536Pro) c.998A>C (p.Gln333Pro) n.2093A>C c.1649A>C (p.Gln550Pro) c.1706A>C (p.Gln569Pro) c.1745A>C (p.Gln582Pro) c.1412A>C (p.Gln471Pro) n.1985A>C n.1876A>C | |
1 | g.243426516A>G | CA345667843 | SDCCAG8 | c.1943A>G (p.Gln648Arg) c.1046A>G (p.Gln349Arg) n.150A>G c.1814A>G (p.Gln605Arg) c.1520A>G (p.Gln507Arg) c.1040A>G (p.Gln347Arg) c.1022A>G (p.Gln341Arg) c.1973A>G (p.Gln658Arg) c.1844A>G (p.Gln615Arg) c.1784A>G (p.Gln595Arg) c.2069A>G (p.Gln690Arg) c.2039A>G (p.Gln680Arg) c.1880A>G (p.Gln627Arg) c.1832A>G (p.Gln611Arg) c.1655A>G (p.Gln552Arg) c.1607A>G (p.Gln536Arg) c.998A>G (p.Gln333Arg) n.2093A>G c.1649A>G (p.Gln550Arg) c.1706A>G (p.Gln569Arg) c.1745A>G (p.Gln582Arg) c.1412A>G (p.Gln471Arg) n.1985A>G n.1876A>G | |
1 | g.243426516A>T | CA345667842 | SDCCAG8 | c.1943A>T (p.Gln648Leu) c.1046A>T (p.Gln349Leu) n.150A>T c.1814A>T (p.Gln605Leu) c.1520A>T (p.Gln507Leu) c.1040A>T (p.Gln347Leu) c.1022A>T (p.Gln341Leu) c.1973A>T (p.Gln658Leu) c.1844A>T (p.Gln615Leu) c.1784A>T (p.Gln595Leu) c.2069A>T (p.Gln690Leu) c.2039A>T (p.Gln680Leu) c.1880A>T (p.Gln627Leu) c.1832A>T (p.Gln611Leu) c.1655A>T (p.Gln552Leu) c.1607A>T (p.Gln536Leu) c.998A>T (p.Gln333Leu) n.2093A>T c.1649A>T (p.Gln550Leu) c.1706A>T (p.Gln569Leu) c.1745A>T (p.Gln582Leu) c.1412A>T (p.Gln471Leu) n.1985A>T n.1876A>T | |
1 | g.243426516_243426517delinsAG | CA1230390617 | SDCCAG8 | c.1943_1944delinsAG (p.Gln648=) c.1046_1047delinsAG (p.Gln349=) n.150_151delinsAG c.1814_1815delinsAG (p.Gln605=) c.1520_1521delinsAG (p.Gln507=) c.1040_1041delinsAG (p.Gln347=) c.1022_1023delinsAG (p.Gln341=) c.1973_1974delinsAG (p.Gln658=) c.1844_1845delinsAG (p.Gln615=) c.1784_1785delinsAG (p.Gln595=) c.2069_2070delinsAG (p.Gln690=) c.2039_2040delinsAG (p.Gln680=) c.1880_1881delinsAG (p.Gln627=) c.1832_1833delinsAG (p.Gln611=) c.1655_1656delinsAG (p.Gln552=) c.1607_1608delinsAG (p.Gln536=) c.998_999delinsAG (p.Gln333=) n.2093_2094delinsAG c.1649_1650delinsAG (p.Gln550=) c.1706_1707delinsAG (p.Gln569=) c.1745_1746delinsAG (p.Gln582=) c.1412_1413delinsAG (p.Gln471=) n.1985_1986delinsAG n.1876_1877delinsAG | |
1 | g.243426516_243426520delinsAGTGT | CA1230390616 | SDCCAG8 | c.1943_1947delinsAGTGT (p.Gln648=) c.1046_1050delinsAGTGT (p.Gln349=) n.150_154delinsAGTGT c.1814_1818delinsAGTGT (p.Gln605=) c.1520_1524delinsAGTGT (p.Gln507=) c.1040_1044delinsAGTGT (p.Gln347=) c.1022_1026delinsAGTGT (p.Gln341=) c.1973_1977delinsAGTGT (p.Gln658=) c.1844_1848delinsAGTGT (p.Gln615=) c.1784_1788delinsAGTGT (p.Gln595=) c.2069_2073delinsAGTGT (p.Gln690=) c.2039_2043delinsAGTGT (p.Gln680=) c.1880_1884delinsAGTGT (p.Gln627=) c.1832_1836delinsAGTGT (p.Gln611=) c.1655_1659delinsAGTGT (p.Gln552=) c.1607_1611delinsAGTGT (p.Gln536=) c.998_1002delinsAGTGT (p.Gln333=) n.2093_2097delinsAGTGT c.1649_1653delinsAGTGT (p.Gln550=) c.1706_1710delinsAGTGT (p.Gln569=) c.1745_1749delinsAGTGT (p.Gln582=) c.1412_1416delinsAGTGT (p.Gln471=) n.1985_1989delinsAGTGT n.1876_1880delinsAGTGT | |
1 | g.243426517del | CA1483781 | SDCCAG8 | c.1944del (p.Gln648HisfsTer12) c.1047del (p.Gln349HisfsTer12) n.151del c.1815del (p.Gln605HisfsTer12) c.1521del (p.Gln507HisfsTer12) c.1041del (p.Gln347HisfsTer12) c.1023del (p.Gln341HisfsTer12) c.1974del (p.Gln658HisfsTer12) c.1845del (p.Gln615HisfsTer12) c.1785del (p.Gln595HisfsTer12) c.2070del (p.Gln690HisfsTer12) c.2040del (p.Gln680HisfsTer12) c.1881del (p.Gln627HisfsTer12) c.1833del (p.Gln611HisfsTer12) c.1656del (p.Gln552HisfsTer12) c.1608del (p.Gln536HisfsTer12) c.999del (p.Gln333HisfsTer12) n.2094del c.1650del (p.Gln550HisfsTer12) c.1707del (p.Gln569HisfsTer12) c.1746del (p.Gln582HisfsTer12) c.1413del (p.Gln471HisfsTer12) n.1986del n.1877del | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.243426517G>A | CA424346879 | SDCCAG8 | c.1944G>A (p.Gln648=) c.1047G>A (p.Gln349=) n.151G>A c.1815G>A (p.Gln605=) c.1521G>A (p.Gln507=) c.1041G>A (p.Gln347=) c.1023G>A (p.Gln341=) c.1974G>A (p.Gln658=) c.1845G>A (p.Gln615=) c.1785G>A (p.Gln595=) c.2070G>A (p.Gln690=) c.2040G>A (p.Gln680=) c.1881G>A (p.Gln627=) c.1833G>A (p.Gln611=) c.1656G>A (p.Gln552=) c.1608G>A (p.Gln536=) c.999G>A (p.Gln333=) n.2094G>A c.1650G>A (p.Gln550=) c.1707G>A (p.Gln569=) c.1746G>A (p.Gln582=) c.1413G>A (p.Gln471=) n.1986G>A n.1877G>A | |
1 | g.243426517G>C | CA345667844 | SDCCAG8 | c.1944G>C (p.Gln648His) c.1047G>C (p.Gln349His) n.151G>C c.1815G>C (p.Gln605His) c.1521G>C (p.Gln507His) c.1041G>C (p.Gln347His) c.1023G>C (p.Gln341His) c.1974G>C (p.Gln658His) c.1845G>C (p.Gln615His) c.1785G>C (p.Gln595His) c.2070G>C (p.Gln690His) c.2040G>C (p.Gln680His) c.1881G>C (p.Gln627His) c.1833G>C (p.Gln611His) c.1656G>C (p.Gln552His) c.1608G>C (p.Gln536His) c.999G>C (p.Gln333His) n.2094G>C c.1650G>C (p.Gln550His) c.1707G>C (p.Gln569His) c.1746G>C (p.Gln582His) c.1413G>C (p.Gln471His) n.1986G>C n.1877G>C | ClinVar dbSNP |
1 | g.243426517G>T | CA345667845 | SDCCAG8 | c.1944G>T (p.Gln648His) c.1047G>T (p.Gln349His) n.151G>T c.1815G>T (p.Gln605His) c.1521G>T (p.Gln507His) c.1041G>T (p.Gln347His) c.1023G>T (p.Gln341His) c.1974G>T (p.Gln658His) c.1845G>T (p.Gln615His) c.1785G>T (p.Gln595His) c.2070G>T (p.Gln690His) c.2040G>T (p.Gln680His) c.1881G>T (p.Gln627His) c.1833G>T (p.Gln611His) c.1656G>T (p.Gln552His) c.1608G>T (p.Gln536His) c.999G>T (p.Gln333His) n.2094G>T c.1650G>T (p.Gln550His) c.1707G>T (p.Gln569His) c.1746G>T (p.Gln582His) c.1413G>T (p.Gln471His) n.1986G>T n.1877G>T | gnomAD v4 |
1 | g.243426517_243426522delinsGTGTGT | CA1144229334 | SDCCAG8 | c.1944_1949delinsGTGTGT (p.Gln648=) c.1047_1052delinsGTGTGT (p.Gln349=) n.151_156delinsGTGTGT c.1815_1820delinsGTGTGT (p.Gln605=) c.1521_1526delinsGTGTGT (p.Gln507=) c.1041_1046delinsGTGTGT (p.Gln347=) c.1023_1028delinsGTGTGT (p.Gln341=) c.1974_1979delinsGTGTGT (p.Gln658=) c.1845_1850delinsGTGTGT (p.Gln615=) c.1785_1790delinsGTGTGT (p.Gln595=) c.2070_2075delinsGTGTGT (p.Gln690=) c.2040_2045delinsGTGTGT (p.Gln680=) c.1881_1886delinsGTGTGT (p.Gln627=) c.1833_1838delinsGTGTGT (p.Gln611=) c.1656_1661delinsGTGTGT (p.Gln552=) c.1608_1613delinsGTGTGT (p.Gln536=) c.999_1004delinsGTGTGT (p.Gln333=) n.2094_2099delinsGTGTGT c.1650_1655delinsGTGTGT (p.Gln550=) c.1707_1712delinsGTGTGT (p.Gln569=) c.1746_1751delinsGTGTGT (p.Gln582=) c.1413_1418delinsGTGTGT (p.Gln471=) n.1986_1991delinsGTGTGT n.1877_1882delinsGTGTGT | |
1 | g.243426519_243426522del | CA113828 | SDCCAG8 | c.1946_1949del (p.Cys649SerfsTer10) c.1049_1052del (p.Cys350SerfsTer10) n.153_156del c.1817_1820del (p.Cys606SerfsTer10) c.1523_1526del (p.Cys508SerfsTer10) c.1043_1046del (p.Cys348SerfsTer10) c.1025_1028del (p.Cys342SerfsTer10) c.1976_1979del (p.Cys659SerfsTer10) c.1847_1850del (p.Cys616SerfsTer10) c.1787_1790del (p.Cys596SerfsTer10) c.2072_2075del (p.Cys691SerfsTer10) c.2042_2045del (p.Cys681SerfsTer10) c.1883_1886del (p.Cys628SerfsTer10) c.1835_1838del (p.Cys612SerfsTer10) c.1658_1661del (p.Cys553SerfsTer10) c.1610_1613del (p.Cys537SerfsTer10) c.1001_1004del (p.Cys334SerfsTer10) n.2096_2099del c.1652_1655del (p.Cys551SerfsTer10) c.1709_1712del (p.Cys570SerfsTer10) c.1748_1751del (p.Cys583SerfsTer10) c.1415_1418del (p.Cys472SerfsTer10) n.1988_1991del n.1879_1882del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.243426518T>A | CA345667846 | SDCCAG8 | c.1945T>A (p.Cys649Ser) c.1048T>A (p.Cys350Ser) n.152T>A c.1816T>A (p.Cys606Ser) c.1522T>A (p.Cys508Ser) c.1042T>A (p.Cys348Ser) c.1024T>A (p.Cys342Ser) c.1975T>A (p.Cys659Ser) c.1846T>A (p.Cys616Ser) c.1786T>A (p.Cys596Ser) c.2071T>A (p.Cys691Ser) c.2041T>A (p.Cys681Ser) c.1882T>A (p.Cys628Ser) c.1834T>A (p.Cys612Ser) c.1657T>A (p.Cys553Ser) c.1609T>A (p.Cys537Ser) c.1000T>A (p.Cys334Ser) n.2095T>A c.1651T>A (p.Cys551Ser) c.1708T>A (p.Cys570Ser) c.1747T>A (p.Cys583Ser) c.1414T>A (p.Cys472Ser) n.1987T>A n.1878T>A | |
1 | g.243426518T>C | CA1483782 | SDCCAG8 | c.1945T>C (p.Cys649Arg) c.1048T>C (p.Cys350Arg) n.152T>C c.1816T>C (p.Cys606Arg) c.1522T>C (p.Cys508Arg) c.1042T>C (p.Cys348Arg) c.1024T>C (p.Cys342Arg) c.1975T>C (p.Cys659Arg) c.1846T>C (p.Cys616Arg) c.1786T>C (p.Cys596Arg) c.2071T>C (p.Cys691Arg) c.2041T>C (p.Cys681Arg) c.1882T>C (p.Cys628Arg) c.1834T>C (p.Cys612Arg) c.1657T>C (p.Cys553Arg) c.1609T>C (p.Cys537Arg) c.1000T>C (p.Cys334Arg) n.2095T>C c.1651T>C (p.Cys551Arg) c.1708T>C (p.Cys570Arg) c.1747T>C (p.Cys583Arg) c.1414T>C (p.Cys472Arg) n.1987T>C n.1878T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.243426518T>G | CA345667847 | SDCCAG8 | c.1945T>G (p.Cys649Gly) c.1048T>G (p.Cys350Gly) n.152T>G c.1816T>G (p.Cys606Gly) c.1522T>G (p.Cys508Gly) c.1042T>G (p.Cys348Gly) c.1024T>G (p.Cys342Gly) c.1975T>G (p.Cys659Gly) c.1846T>G (p.Cys616Gly) c.1786T>G (p.Cys596Gly) c.2071T>G (p.Cys691Gly) c.2041T>G (p.Cys681Gly) c.1882T>G (p.Cys628Gly) c.1834T>G (p.Cys612Gly) c.1657T>G (p.Cys553Gly) c.1609T>G (p.Cys537Gly) c.1000T>G (p.Cys334Gly) n.2095T>G c.1651T>G (p.Cys551Gly) c.1708T>G (p.Cys570Gly) c.1747T>G (p.Cys583Gly) c.1414T>G (p.Cys472Gly) n.1987T>G n.1878T>G | |
1 | g.243426518T= | CA1143819908 | SDCCAG8 | c.1945T= (p.Cys649=) c.1048T= (p.Cys350=) n.152T= c.1816T= (p.Cys606=) c.1522T= (p.Cys508=) c.1042T= (p.Cys348=) c.1024T= (p.Cys342=) c.1975T= (p.Cys659=) c.1846T= (p.Cys616=) c.1786T= (p.Cys596=) c.2071T= (p.Cys691=) c.2041T= (p.Cys681=) c.1882T= (p.Cys628=) c.1834T= (p.Cys612=) c.1657T= (p.Cys553=) c.1609T= (p.Cys537=) c.1000T= (p.Cys334=) n.2095T= c.1651T= (p.Cys551=) c.1708T= (p.Cys570=) c.1747T= (p.Cys583=) c.1414T= (p.Cys472=) n.1987T= n.1878T= | |
1 | g.243426519G>A | CA345667848 | SDCCAG8 | c.1946G>A (p.Cys649Tyr) c.1049G>A (p.Cys350Tyr) n.153G>A c.1817G>A (p.Cys606Tyr) c.1523G>A (p.Cys508Tyr) c.1043G>A (p.Cys348Tyr) c.1025G>A (p.Cys342Tyr) c.1976G>A (p.Cys659Tyr) c.1847G>A (p.Cys616Tyr) c.1787G>A (p.Cys596Tyr) c.2072G>A (p.Cys691Tyr) c.2042G>A (p.Cys681Tyr) c.1883G>A (p.Cys628Tyr) c.1835G>A (p.Cys612Tyr) c.1658G>A (p.Cys553Tyr) c.1610G>A (p.Cys537Tyr) c.1001G>A (p.Cys334Tyr) n.2096G>A c.1652G>A (p.Cys551Tyr) c.1709G>A (p.Cys570Tyr) c.1748G>A (p.Cys583Tyr) c.1415G>A (p.Cys472Tyr) n.1988G>A n.1879G>A | |
1 | g.243426519G>C | CA345667849 | SDCCAG8 | c.1946G>C (p.Cys649Ser) c.1049G>C (p.Cys350Ser) n.153G>C c.1817G>C (p.Cys606Ser) c.1523G>C (p.Cys508Ser) c.1043G>C (p.Cys348Ser) c.1025G>C (p.Cys342Ser) c.1976G>C (p.Cys659Ser) c.1847G>C (p.Cys616Ser) c.1787G>C (p.Cys596Ser) c.2072G>C (p.Cys691Ser) c.2042G>C (p.Cys681Ser) c.1883G>C (p.Cys628Ser) c.1835G>C (p.Cys612Ser) c.1658G>C (p.Cys553Ser) c.1610G>C (p.Cys537Ser) c.1001G>C (p.Cys334Ser) n.2096G>C c.1652G>C (p.Cys551Ser) c.1709G>C (p.Cys570Ser) c.1748G>C (p.Cys583Ser) c.1415G>C (p.Cys472Ser) n.1988G>C n.1879G>C | |
1 | g.243426519G>T | CA345667850 | SDCCAG8 | c.1946G>T (p.Cys649Phe) c.1049G>T (p.Cys350Phe) n.153G>T c.1817G>T (p.Cys606Phe) c.1523G>T (p.Cys508Phe) c.1043G>T (p.Cys348Phe) c.1025G>T (p.Cys342Phe) c.1976G>T (p.Cys659Phe) c.1847G>T (p.Cys616Phe) c.1787G>T (p.Cys596Phe) c.2072G>T (p.Cys691Phe) c.2042G>T (p.Cys681Phe) c.1883G>T (p.Cys628Phe) c.1835G>T (p.Cys612Phe) c.1658G>T (p.Cys553Phe) c.1610G>T (p.Cys537Phe) c.1001G>T (p.Cys334Phe) n.2096G>T c.1652G>T (p.Cys551Phe) c.1709G>T (p.Cys570Phe) c.1748G>T (p.Cys583Phe) c.1415G>T (p.Cys472Phe) n.1988G>T n.1879G>T | COSMIC |
1 | g.243426520T>A | CA345667851 | SDCCAG8 | c.1947T>A (p.Cys649Ter) c.1050T>A (p.Cys350Ter) n.154T>A c.1818T>A (p.Cys606Ter) c.1524T>A (p.Cys508Ter) c.1044T>A (p.Cys348Ter) c.1026T>A (p.Cys342Ter) c.1977T>A (p.Cys659Ter) c.1848T>A (p.Cys616Ter) c.1788T>A (p.Cys596Ter) c.2073T>A (p.Cys691Ter) c.2043T>A (p.Cys681Ter) c.1884T>A (p.Cys628Ter) c.1836T>A (p.Cys612Ter) c.1659T>A (p.Cys553Ter) c.1611T>A (p.Cys537Ter) c.1002T>A (p.Cys334Ter) n.2097T>A c.1653T>A (p.Cys551Ter) c.1710T>A (p.Cys570Ter) c.1749T>A (p.Cys583Ter) c.1416T>A (p.Cys472Ter) n.1989T>A n.1880T>A | |
1 | g.243426520T>C | CA424346880 | SDCCAG8 | c.1947T>C (p.Cys649=) c.1050T>C (p.Cys350=) n.154T>C c.1818T>C (p.Cys606=) c.1524T>C (p.Cys508=) c.1044T>C (p.Cys348=) c.1026T>C (p.Cys342=) c.1977T>C (p.Cys659=) c.1848T>C (p.Cys616=) c.1788T>C (p.Cys596=) c.2073T>C (p.Cys691=) c.2043T>C (p.Cys681=) c.1884T>C (p.Cys628=) c.1836T>C (p.Cys612=) c.1659T>C (p.Cys553=) c.1611T>C (p.Cys537=) c.1002T>C (p.Cys334=) n.2097T>C c.1653T>C (p.Cys551=) c.1710T>C (p.Cys570=) c.1749T>C (p.Cys583=) c.1416T>C (p.Cys472=) n.1989T>C n.1880T>C | |
1 | g.243426520T>G | CA345667852 | SDCCAG8 | c.1947T>G (p.Cys649Trp) c.1050T>G (p.Cys350Trp) n.154T>G c.1818T>G (p.Cys606Trp) c.1524T>G (p.Cys508Trp) c.1044T>G (p.Cys348Trp) c.1026T>G (p.Cys342Trp) c.1977T>G (p.Cys659Trp) c.1848T>G (p.Cys616Trp) c.1788T>G (p.Cys596Trp) c.2073T>G (p.Cys691Trp) c.2043T>G (p.Cys681Trp) c.1884T>G (p.Cys628Trp) c.1836T>G (p.Cys612Trp) c.1659T>G (p.Cys553Trp) c.1611T>G (p.Cys537Trp) c.1002T>G (p.Cys334Trp) n.2097T>G c.1653T>G (p.Cys551Trp) c.1710T>G (p.Cys570Trp) c.1749T>G (p.Cys583Trp) c.1416T>G (p.Cys472Trp) n.1989T>G n.1880T>G | |
1 | g.243426521G>A | CA345667855 | SDCCAG8 | c.1948G>A (p.Val650Ile) c.1051G>A (p.Val351Ile) n.155G>A c.1819G>A (p.Val607Ile) c.1525G>A (p.Val509Ile) c.1045G>A (p.Val349Ile) c.1027G>A (p.Val343Ile) c.1978G>A (p.Val660Ile) c.1849G>A (p.Val617Ile) c.1789G>A (p.Val597Ile) c.2074G>A (p.Val692Ile) c.2044G>A (p.Val682Ile) c.1885G>A (p.Val629Ile) c.1837G>A (p.Val613Ile) c.1660G>A (p.Val554Ile) c.1612G>A (p.Val538Ile) c.1003G>A (p.Val335Ile) n.2098G>A c.1654G>A (p.Val552Ile) c.1711G>A (p.Val571Ile) c.1750G>A (p.Val584Ile) c.1417G>A (p.Val473Ile) n.1990G>A n.1881G>A | gnomAD v4 |
1 | g.243426521G>C | CA345667853 | SDCCAG8 | c.1948G>C (p.Val650Leu) c.1051G>C (p.Val351Leu) n.155G>C c.1819G>C (p.Val607Leu) c.1525G>C (p.Val509Leu) c.1045G>C (p.Val349Leu) c.1027G>C (p.Val343Leu) c.1978G>C (p.Val660Leu) c.1849G>C (p.Val617Leu) c.1789G>C (p.Val597Leu) c.2074G>C (p.Val692Leu) c.2044G>C (p.Val682Leu) c.1885G>C (p.Val629Leu) c.1837G>C (p.Val613Leu) c.1660G>C (p.Val554Leu) c.1612G>C (p.Val538Leu) c.1003G>C (p.Val335Leu) n.2098G>C c.1654G>C (p.Val552Leu) c.1711G>C (p.Val571Leu) c.1750G>C (p.Val584Leu) c.1417G>C (p.Val473Leu) n.1990G>C n.1881G>C | |
1 | g.243426521G>T | CA345667854 | SDCCAG8 | c.1948G>T (p.Val650Phe) c.1051G>T (p.Val351Phe) n.155G>T c.1819G>T (p.Val607Phe) c.1525G>T (p.Val509Phe) c.1045G>T (p.Val349Phe) c.1027G>T (p.Val343Phe) c.1978G>T (p.Val660Phe) c.1849G>T (p.Val617Phe) c.1789G>T (p.Val597Phe) c.2074G>T (p.Val692Phe) c.2044G>T (p.Val682Phe) c.1885G>T (p.Val629Phe) c.1837G>T (p.Val613Phe) c.1660G>T (p.Val554Phe) c.1612G>T (p.Val538Phe) c.1003G>T (p.Val335Phe) n.2098G>T c.1654G>T (p.Val552Phe) c.1711G>T (p.Val571Phe) c.1750G>T (p.Val584Phe) c.1417G>T (p.Val473Phe) n.1990G>T n.1881G>T | dbSNP gnomAD v4 |
1 | g.243426522T>A | CA345667856 | SDCCAG8 | c.1949T>A (p.Val650Asp) c.1052T>A (p.Val351Asp) n.156T>A c.1820T>A (p.Val607Asp) c.1526T>A (p.Val509Asp) c.1046T>A (p.Val349Asp) c.1028T>A (p.Val343Asp) c.1979T>A (p.Val660Asp) c.1850T>A (p.Val617Asp) c.1790T>A (p.Val597Asp) c.2075T>A (p.Val692Asp) c.2045T>A (p.Val682Asp) c.1886T>A (p.Val629Asp) c.1838T>A (p.Val613Asp) c.1661T>A (p.Val554Asp) c.1613T>A (p.Val538Asp) c.1004T>A (p.Val335Asp) n.2099T>A c.1655T>A (p.Val552Asp) c.1712T>A (p.Val571Asp) c.1751T>A (p.Val584Asp) c.1418T>A (p.Val473Asp) n.1991T>A n.1882T>A | |
1 | g.243426522T>C | CA345667857 | SDCCAG8 | c.1949T>C (p.Val650Ala) c.1052T>C (p.Val351Ala) n.156T>C c.1820T>C (p.Val607Ala) c.1526T>C (p.Val509Ala) c.1046T>C (p.Val349Ala) c.1028T>C (p.Val343Ala) c.1979T>C (p.Val660Ala) c.1850T>C (p.Val617Ala) c.1790T>C (p.Val597Ala) c.2075T>C (p.Val692Ala) c.2045T>C (p.Val682Ala) c.1886T>C (p.Val629Ala) c.1838T>C (p.Val613Ala) c.1661T>C (p.Val554Ala) c.1613T>C (p.Val538Ala) c.1004T>C (p.Val335Ala) n.2099T>C c.1655T>C (p.Val552Ala) c.1712T>C (p.Val571Ala) c.1751T>C (p.Val584Ala) c.1418T>C (p.Val473Ala) n.1991T>C n.1882T>C | |
1 | g.243426522T>G | CA345667858 | SDCCAG8 | c.1949T>G (p.Val650Gly) c.1052T>G (p.Val351Gly) n.156T>G c.1820T>G (p.Val607Gly) c.1526T>G (p.Val509Gly) c.1046T>G (p.Val349Gly) c.1028T>G (p.Val343Gly) c.1979T>G (p.Val660Gly) c.1850T>G (p.Val617Gly) c.1790T>G (p.Val597Gly) c.2075T>G (p.Val692Gly) c.2045T>G (p.Val682Gly) c.1886T>G (p.Val629Gly) c.1838T>G (p.Val613Gly) c.1661T>G (p.Val554Gly) c.1613T>G (p.Val538Gly) c.1004T>G (p.Val335Gly) n.2099T>G c.1655T>G (p.Val552Gly) c.1712T>G (p.Val571Gly) c.1751T>G (p.Val584Gly) c.1418T>G (p.Val473Gly) n.1991T>G n.1882T>G | |
1 | g.243426523C>A | CA424346883 | SDCCAG8 | c.1950C>A (p.Val650=) c.1053C>A (p.Val351=) n.157C>A c.1821C>A (p.Val607=) c.1527C>A (p.Val509=) c.1047C>A (p.Val349=) c.1029C>A (p.Val343=) c.1980C>A (p.Val660=) c.1851C>A (p.Val617=) c.1791C>A (p.Val597=) c.2076C>A (p.Val692=) c.2046C>A (p.Val682=) c.1887C>A (p.Val629=) c.1839C>A (p.Val613=) c.1662C>A (p.Val554=) c.1614C>A (p.Val538=) c.1005C>A (p.Val335=) n.2100C>A c.1656C>A (p.Val552=) c.1713C>A (p.Val571=) c.1752C>A (p.Val584=) c.1419C>A (p.Val473=) n.1992C>A n.1883C>A | gnomAD v4 |
1 | g.243426523C>G | CA424346882 | SDCCAG8 | c.1950C>G (p.Val650=) c.1053C>G (p.Val351=) n.157C>G c.1821C>G (p.Val607=) c.1527C>G (p.Val509=) c.1047C>G (p.Val349=) c.1029C>G (p.Val343=) c.1980C>G (p.Val660=) c.1851C>G (p.Val617=) c.1791C>G (p.Val597=) c.2076C>G (p.Val692=) c.2046C>G (p.Val682=) c.1887C>G (p.Val629=) c.1839C>G (p.Val613=) c.1662C>G (p.Val554=) c.1614C>G (p.Val538=) c.1005C>G (p.Val335=) n.2100C>G c.1656C>G (p.Val552=) c.1713C>G (p.Val571=) c.1752C>G (p.Val584=) c.1419C>G (p.Val473=) n.1992C>G n.1883C>G | |
1 | g.243426523C>T | CA424346881 | SDCCAG8 | c.1950C>T (p.Val650=) c.1053C>T (p.Val351=) n.157C>T c.1821C>T (p.Val607=) c.1527C>T (p.Val509=) c.1047C>T (p.Val349=) c.1029C>T (p.Val343=) c.1980C>T (p.Val660=) c.1851C>T (p.Val617=) c.1791C>T (p.Val597=) c.2076C>T (p.Val692=) c.2046C>T (p.Val682=) c.1887C>T (p.Val629=) c.1839C>T (p.Val613=) c.1662C>T (p.Val554=) c.1614C>T (p.Val538=) c.1005C>T (p.Val335=) n.2100C>T c.1656C>T (p.Val552=) c.1713C>T (p.Val571=) c.1752C>T (p.Val584=) c.1419C>T (p.Val473=) n.1992C>T n.1883C>T | |
1 | g.243426524C>A | CA345667859 | SDCCAG8 | c.1951C>A (p.Gln651Lys) c.1054C>A (p.Gln352Lys) n.158C>A c.1822C>A (p.Gln608Lys) c.1528C>A (p.Gln510Lys) c.1048C>A (p.Gln350Lys) c.1030C>A (p.Gln344Lys) c.1981C>A (p.Gln661Lys) c.1852C>A (p.Gln618Lys) c.1792C>A (p.Gln598Lys) c.2077C>A (p.Gln693Lys) c.2047C>A (p.Gln683Lys) c.1888C>A (p.Gln630Lys) c.1840C>A (p.Gln614Lys) c.1663C>A (p.Gln555Lys) c.1615C>A (p.Gln539Lys) c.1006C>A (p.Gln336Lys) n.2101C>A c.1657C>A (p.Gln553Lys) c.1714C>A (p.Gln572Lys) c.1753C>A (p.Gln585Lys) c.1420C>A (p.Gln474Lys) n.1993C>A n.1884C>A | |
1 | g.243426524C>G | CA345667860 | SDCCAG8 | c.1951C>G (p.Gln651Glu) c.1054C>G (p.Gln352Glu) n.158C>G c.1822C>G (p.Gln608Glu) c.1528C>G (p.Gln510Glu) c.1048C>G (p.Gln350Glu) c.1030C>G (p.Gln344Glu) c.1981C>G (p.Gln661Glu) c.1852C>G (p.Gln618Glu) c.1792C>G (p.Gln598Glu) c.2077C>G (p.Gln693Glu) c.2047C>G (p.Gln683Glu) c.1888C>G (p.Gln630Glu) c.1840C>G (p.Gln614Glu) c.1663C>G (p.Gln555Glu) c.1615C>G (p.Gln539Glu) c.1006C>G (p.Gln336Glu) n.2101C>G c.1657C>G (p.Gln553Glu) c.1714C>G (p.Gln572Glu) c.1753C>G (p.Gln585Glu) c.1420C>G (p.Gln474Glu) n.1993C>G n.1884C>G | |
1 | g.243426524C>T | CA345667861 | SDCCAG8 | c.1951C>T (p.Gln651Ter) c.1054C>T (p.Gln352Ter) n.158C>T c.1822C>T (p.Gln608Ter) c.1528C>T (p.Gln510Ter) c.1048C>T (p.Gln350Ter) c.1030C>T (p.Gln344Ter) c.1981C>T (p.Gln661Ter) c.1852C>T (p.Gln618Ter) c.1792C>T (p.Gln598Ter) c.2077C>T (p.Gln693Ter) c.2047C>T (p.Gln683Ter) c.1888C>T (p.Gln630Ter) c.1840C>T (p.Gln614Ter) c.1663C>T (p.Gln555Ter) c.1615C>T (p.Gln539Ter) c.1006C>T (p.Gln336Ter) n.2101C>T c.1657C>T (p.Gln553Ter) c.1714C>T (p.Gln572Ter) c.1753C>T (p.Gln585Ter) c.1420C>T (p.Gln474Ter) n.1993C>T n.1884C>T | |
1 | g.243426525A>C | CA345667862 | SDCCAG8 | c.1952A>C (p.Gln651Pro) c.1055A>C (p.Gln352Pro) n.159A>C c.1823A>C (p.Gln608Pro) c.1529A>C (p.Gln510Pro) c.1049A>C (p.Gln350Pro) c.1031A>C (p.Gln344Pro) c.1982A>C (p.Gln661Pro) c.1853A>C (p.Gln618Pro) c.1793A>C (p.Gln598Pro) c.2078A>C (p.Gln693Pro) c.2048A>C (p.Gln683Pro) c.1889A>C (p.Gln630Pro) c.1841A>C (p.Gln614Pro) c.1664A>C (p.Gln555Pro) c.1616A>C (p.Gln539Pro) c.1007A>C (p.Gln336Pro) n.2102A>C c.1658A>C (p.Gln553Pro) c.1715A>C (p.Gln572Pro) c.1754A>C (p.Gln585Pro) c.1421A>C (p.Gln474Pro) n.1994A>C n.1885A>C | |
1 | g.243426525A>G | CA345667863 | SDCCAG8 | c.1952A>G (p.Gln651Arg) c.1055A>G (p.Gln352Arg) n.159A>G c.1823A>G (p.Gln608Arg) c.1529A>G (p.Gln510Arg) c.1049A>G (p.Gln350Arg) c.1031A>G (p.Gln344Arg) c.1982A>G (p.Gln661Arg) c.1853A>G (p.Gln618Arg) c.1793A>G (p.Gln598Arg) c.2078A>G (p.Gln693Arg) c.2048A>G (p.Gln683Arg) c.1889A>G (p.Gln630Arg) c.1841A>G (p.Gln614Arg) c.1664A>G (p.Gln555Arg) c.1616A>G (p.Gln539Arg) c.1007A>G (p.Gln336Arg) n.2102A>G c.1658A>G (p.Gln553Arg) c.1715A>G (p.Gln572Arg) c.1754A>G (p.Gln585Arg) c.1421A>G (p.Gln474Arg) n.1994A>G n.1885A>G | |
1 | g.243426525A>T | CA345667864 | SDCCAG8 | c.1952A>T (p.Gln651Leu) c.1055A>T (p.Gln352Leu) n.159A>T c.1823A>T (p.Gln608Leu) c.1529A>T (p.Gln510Leu) c.1049A>T (p.Gln350Leu) c.1031A>T (p.Gln344Leu) c.1982A>T (p.Gln661Leu) c.1853A>T (p.Gln618Leu) c.1793A>T (p.Gln598Leu) c.2078A>T (p.Gln693Leu) c.2048A>T (p.Gln683Leu) c.1889A>T (p.Gln630Leu) c.1841A>T (p.Gln614Leu) c.1664A>T (p.Gln555Leu) c.1616A>T (p.Gln539Leu) c.1007A>T (p.Gln336Leu) n.2102A>T c.1658A>T (p.Gln553Leu) c.1715A>T (p.Gln572Leu) c.1754A>T (p.Gln585Leu) c.1421A>T (p.Gln474Leu) n.1994A>T n.1885A>T | |
1 | g.243426526G>A | CA424346884 | SDCCAG8 | c.1953G>A (p.Gln651=) c.1056G>A (p.Gln352=) n.160G>A c.1824G>A (p.Gln608=) c.1530G>A (p.Gln510=) c.1050G>A (p.Gln350=) c.1032G>A (p.Gln344=) c.1983G>A (p.Gln661=) c.1854G>A (p.Gln618=) c.1794G>A (p.Gln598=) c.2079G>A (p.Gln693=) c.2049G>A (p.Gln683=) c.1890G>A (p.Gln630=) c.1842G>A (p.Gln614=) c.1665G>A (p.Gln555=) c.1617G>A (p.Gln539=) c.1008G>A (p.Gln336=) n.2103G>A c.1659G>A (p.Gln553=) c.1716G>A (p.Gln572=) c.1755G>A (p.Gln585=) c.1422G>A (p.Gln474=) n.1995G>A n.1886G>A | |
1 | g.243426526G>C | CA345667865 | SDCCAG8 | c.1953G>C (p.Gln651His) c.1056G>C (p.Gln352His) n.160G>C c.1824G>C (p.Gln608His) c.1530G>C (p.Gln510His) c.1050G>C (p.Gln350His) c.1032G>C (p.Gln344His) c.1983G>C (p.Gln661His) c.1854G>C (p.Gln618His) c.1794G>C (p.Gln598His) c.2079G>C (p.Gln693His) c.2049G>C (p.Gln683His) c.1890G>C (p.Gln630His) c.1842G>C (p.Gln614His) c.1665G>C (p.Gln555His) c.1617G>C (p.Gln539His) c.1008G>C (p.Gln336His) n.2103G>C c.1659G>C (p.Gln553His) c.1716G>C (p.Gln572His) c.1755G>C (p.Gln585His) c.1422G>C (p.Gln474His) n.1995G>C n.1886G>C | |
1 | g.243426526G>T | CA345667866 | SDCCAG8 | c.1953G>T (p.Gln651His) c.1056G>T (p.Gln352His) n.160G>T c.1824G>T (p.Gln608His) c.1530G>T (p.Gln510His) c.1050G>T (p.Gln350His) c.1032G>T (p.Gln344His) c.1983G>T (p.Gln661His) c.1854G>T (p.Gln618His) c.1794G>T (p.Gln598His) c.2079G>T (p.Gln693His) c.2049G>T (p.Gln683His) c.1890G>T (p.Gln630His) c.1842G>T (p.Gln614His) c.1665G>T (p.Gln555His) c.1617G>T (p.Gln539His) c.1008G>T (p.Gln336His) n.2103G>T c.1659G>T (p.Gln553His) c.1716G>T (p.Gln572His) c.1755G>T (p.Gln585His) c.1422G>T (p.Gln474His) n.1995G>T n.1886G>T | |
1 | g.243426527C>A | CA345667869 | SDCCAG8 | c.1954C>A (p.His652Asn) c.1057C>A (p.His353Asn) n.161C>A c.1825C>A (p.His609Asn) c.1531C>A (p.His511Asn) c.1051C>A (p.His351Asn) c.1033C>A (p.His345Asn) c.1984C>A (p.His662Asn) c.1855C>A (p.His619Asn) c.1795C>A (p.His599Asn) c.2080C>A (p.His694Asn) c.2050C>A (p.His684Asn) c.1891C>A (p.His631Asn) c.1843C>A (p.His615Asn) c.1666C>A (p.His556Asn) c.1618C>A (p.His540Asn) c.1009C>A (p.His337Asn) n.2104C>A c.1660C>A (p.His554Asn) c.1717C>A (p.His573Asn) c.1756C>A (p.His586Asn) c.1423C>A (p.His475Asn) n.1996C>A n.1887C>A | |
1 | g.243426527C>G | CA345667868 | SDCCAG8 | c.1954C>G (p.His652Asp) c.1057C>G (p.His353Asp) n.161C>G c.1825C>G (p.His609Asp) c.1531C>G (p.His511Asp) c.1051C>G (p.His351Asp) c.1033C>G (p.His345Asp) c.1984C>G (p.His662Asp) c.1855C>G (p.His619Asp) c.1795C>G (p.His599Asp) c.2080C>G (p.His694Asp) c.2050C>G (p.His684Asp) c.1891C>G (p.His631Asp) c.1843C>G (p.His615Asp) c.1666C>G (p.His556Asp) c.1618C>G (p.His540Asp) c.1009C>G (p.His337Asp) n.2104C>G c.1660C>G (p.His554Asp) c.1717C>G (p.His573Asp) c.1756C>G (p.His586Asp) c.1423C>G (p.His475Asp) n.1996C>G n.1887C>G | |
1 | g.243426527C>T | CA345667867 | SDCCAG8 | c.1954C>T (p.His652Tyr) c.1057C>T (p.His353Tyr) n.161C>T c.1825C>T (p.His609Tyr) c.1531C>T (p.His511Tyr) c.1051C>T (p.His351Tyr) c.1033C>T (p.His345Tyr) c.1984C>T (p.His662Tyr) c.1855C>T (p.His619Tyr) c.1795C>T (p.His599Tyr) c.2080C>T (p.His694Tyr) c.2050C>T (p.His684Tyr) c.1891C>T (p.His631Tyr) c.1843C>T (p.His615Tyr) c.1666C>T (p.His556Tyr) c.1618C>T (p.His540Tyr) c.1009C>T (p.His337Tyr) n.2104C>T c.1660C>T (p.His554Tyr) c.1717C>T (p.His573Tyr) c.1756C>T (p.His586Tyr) c.1423C>T (p.His475Tyr) n.1996C>T n.1887C>T | gnomAD v4 |
1 | g.243426528A= | CA1148378849 | SDCCAG8 | c.1955A= (p.His652=) c.1058A= (p.His353=) n.162A= c.1826A= (p.His609=) c.1532A= (p.His511=) c.1052A= (p.His351=) c.1034A= (p.His345=) c.1985A= (p.His662=) c.1856A= (p.His619=) c.1796A= (p.His599=) c.2081A= (p.His694=) c.2051A= (p.His684=) c.1892A= (p.His631=) c.1844A= (p.His615=) c.1667A= (p.His556=) c.1619A= (p.His540=) c.1010A= (p.His337=) n.2105A= c.1661A= (p.His554=) c.1718A= (p.His573=) c.1757A= (p.His586=) c.1424A= (p.His475=) n.1997A= n.1888A= | |
1 | g.243426528A>C | CA345667870 | SDCCAG8 | c.1955A>C (p.His652Pro) c.1058A>C (p.His353Pro) n.162A>C c.1826A>C (p.His609Pro) c.1532A>C (p.His511Pro) c.1052A>C (p.His351Pro) c.1034A>C (p.His345Pro) c.1985A>C (p.His662Pro) c.1856A>C (p.His619Pro) c.1796A>C (p.His599Pro) c.2081A>C (p.His694Pro) c.2051A>C (p.His684Pro) c.1892A>C (p.His631Pro) c.1844A>C (p.His615Pro) c.1667A>C (p.His556Pro) c.1619A>C (p.His540Pro) c.1010A>C (p.His337Pro) n.2105A>C c.1661A>C (p.His554Pro) c.1718A>C (p.His573Pro) c.1757A>C (p.His586Pro) c.1424A>C (p.His475Pro) n.1997A>C n.1888A>C | |
1 | g.243426528A>G | CA1483783 | SDCCAG8 | c.1955A>G (p.His652Arg) c.1058A>G (p.His353Arg) n.162A>G c.1826A>G (p.His609Arg) c.1532A>G (p.His511Arg) c.1052A>G (p.His351Arg) c.1034A>G (p.His345Arg) c.1985A>G (p.His662Arg) c.1856A>G (p.His619Arg) c.1796A>G (p.His599Arg) c.2081A>G (p.His694Arg) c.2051A>G (p.His684Arg) c.1892A>G (p.His631Arg) c.1844A>G (p.His615Arg) c.1667A>G (p.His556Arg) c.1619A>G (p.His540Arg) c.1010A>G (p.His337Arg) n.2105A>G c.1661A>G (p.His554Arg) c.1718A>G (p.His573Arg) c.1757A>G (p.His586Arg) c.1424A>G (p.His475Arg) n.1997A>G n.1888A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.243426528A>T | CA345667871 | SDCCAG8 | c.1955A>T (p.His652Leu) c.1058A>T (p.His353Leu) n.162A>T c.1826A>T (p.His609Leu) c.1532A>T (p.His511Leu) c.1052A>T (p.His351Leu) c.1034A>T (p.His345Leu) c.1985A>T (p.His662Leu) c.1856A>T (p.His619Leu) c.1796A>T (p.His599Leu) c.2081A>T (p.His694Leu) c.2051A>T (p.His684Leu) c.1892A>T (p.His631Leu) c.1844A>T (p.His615Leu) c.1667A>T (p.His556Leu) c.1619A>T (p.His540Leu) c.1010A>T (p.His337Leu) n.2105A>T c.1661A>T (p.His554Leu) c.1718A>T (p.His573Leu) c.1757A>T (p.His586Leu) c.1424A>T (p.His475Leu) n.1997A>T n.1888A>T | |
1 | g.243426529T>A | CA345667872 | SDCCAG8 | c.1956T>A (p.His652Gln) c.1059T>A (p.His353Gln) n.163T>A c.1827T>A (p.His609Gln) c.1533T>A (p.His511Gln) c.1053T>A (p.His351Gln) c.1035T>A (p.His345Gln) c.1986T>A (p.His662Gln) c.1857T>A (p.His619Gln) c.1797T>A (p.His599Gln) c.2082T>A (p.His694Gln) c.2052T>A (p.His684Gln) c.1893T>A (p.His631Gln) c.1845T>A (p.His615Gln) c.1668T>A (p.His556Gln) c.1620T>A (p.His540Gln) c.1011T>A (p.His337Gln) n.2106T>A c.1662T>A (p.His554Gln) c.1719T>A (p.His573Gln) c.1758T>A (p.His586Gln) c.1425T>A (p.His475Gln) n.1998T>A n.1889T>A | |
1 | g.243426529T>C | CA41009611 | SDCCAG8 | c.1956T>C (p.His652=) c.1059T>C (p.His353=) n.163T>C c.1827T>C (p.His609=) c.1533T>C (p.His511=) c.1053T>C (p.His351=) c.1035T>C (p.His345=) c.1986T>C (p.His662=) c.1857T>C (p.His619=) c.1797T>C (p.His599=) c.2082T>C (p.His694=) c.2052T>C (p.His684=) c.1893T>C (p.His631=) c.1845T>C (p.His615=) c.1668T>C (p.His556=) c.1620T>C (p.His540=) c.1011T>C (p.His337=) n.2106T>C c.1662T>C (p.His554=) c.1719T>C (p.His573=) c.1758T>C (p.His586=) c.1425T>C (p.His475=) n.1998T>C n.1889T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.243426529T>G | CA345667873 | SDCCAG8 | c.1956T>G (p.His652Gln) c.1059T>G (p.His353Gln) n.163T>G c.1827T>G (p.His609Gln) c.1533T>G (p.His511Gln) c.1053T>G (p.His351Gln) c.1035T>G (p.His345Gln) c.1986T>G (p.His662Gln) c.1857T>G (p.His619Gln) c.1797T>G (p.His599Gln) c.2082T>G (p.His694Gln) c.2052T>G (p.His684Gln) c.1893T>G (p.His631Gln) c.1845T>G (p.His615Gln) c.1668T>G (p.His556Gln) c.1620T>G (p.His540Gln) c.1011T>G (p.His337Gln) n.2106T>G c.1662T>G (p.His554Gln) c.1719T>G (p.His573Gln) c.1758T>G (p.His586Gln) c.1425T>G (p.His475Gln) n.1998T>G n.1889T>G | |
1 | g.243426529T= | CA1230390618 | SDCCAG8 | c.1956T= (p.His652=) c.1059T= (p.His353=) n.163T= c.1827T= (p.His609=) c.1533T= (p.His511=) c.1053T= (p.His351=) c.1035T= (p.His345=) c.1986T= (p.His662=) c.1857T= (p.His619=) c.1797T= (p.His599=) c.2082T= (p.His694=) c.2052T= (p.His684=) c.1893T= (p.His631=) c.1845T= (p.His615=) c.1668T= (p.His556=) c.1620T= (p.His540=) c.1011T= (p.His337=) n.2106T= c.1662T= (p.His554=) c.1719T= (p.His573=) c.1758T= (p.His586=) c.1425T= (p.His475=) n.1998T= n.1889T= | |
1 | g.243426530G>A | CA345667874 | SDCCAG8 | c.1957G>A (p.Gly653Arg) c.1060G>A (p.Gly354Arg) n.164G>A c.1828G>A (p.Gly610Arg) c.1534G>A (p.Gly512Arg) c.1054G>A (p.Gly352Arg) c.1036G>A (p.Gly346Arg) c.1987G>A (p.Gly663Arg) c.1858G>A (p.Gly620Arg) c.1798G>A (p.Gly600Arg) c.2083G>A (p.Gly695Arg) c.2053G>A (p.Gly685Arg) c.1894G>A (p.Gly632Arg) c.1846G>A (p.Gly616Arg) c.1669G>A (p.Gly557Arg) c.1621G>A (p.Gly541Arg) c.1012G>A (p.Gly338Arg) n.2107G>A c.1663G>A (p.Gly555Arg) c.1720G>A (p.Gly574Arg) c.1759G>A (p.Gly587Arg) c.1426G>A (p.Gly476Arg) n.1999G>A n.1890G>A | |
1 | g.243426530G>C | CA345667875 | SDCCAG8 | c.1957G>C (p.Gly653Arg) c.1060G>C (p.Gly354Arg) n.164G>C c.1828G>C (p.Gly610Arg) c.1534G>C (p.Gly512Arg) c.1054G>C (p.Gly352Arg) c.1036G>C (p.Gly346Arg) c.1987G>C (p.Gly663Arg) c.1858G>C (p.Gly620Arg) c.1798G>C (p.Gly600Arg) c.2083G>C (p.Gly695Arg) c.2053G>C (p.Gly685Arg) c.1894G>C (p.Gly632Arg) c.1846G>C (p.Gly616Arg) c.1669G>C (p.Gly557Arg) c.1621G>C (p.Gly541Arg) c.1012G>C (p.Gly338Arg) n.2107G>C c.1663G>C (p.Gly555Arg) c.1720G>C (p.Gly574Arg) c.1759G>C (p.Gly587Arg) c.1426G>C (p.Gly476Arg) n.1999G>C n.1890G>C | |
1 | g.243426530G>T | CA345667876 | SDCCAG8 | c.1957G>T (p.Gly653Trp) c.1060G>T (p.Gly354Trp) n.164G>T c.1828G>T (p.Gly610Trp) c.1534G>T (p.Gly512Trp) c.1054G>T (p.Gly352Trp) c.1036G>T (p.Gly346Trp) c.1987G>T (p.Gly663Trp) c.1858G>T (p.Gly620Trp) c.1798G>T (p.Gly600Trp) c.2083G>T (p.Gly695Trp) c.2053G>T (p.Gly685Trp) c.1894G>T (p.Gly632Trp) c.1846G>T (p.Gly616Trp) c.1669G>T (p.Gly557Trp) c.1621G>T (p.Gly541Trp) c.1012G>T (p.Gly338Trp) n.2107G>T c.1663G>T (p.Gly555Trp) c.1720G>T (p.Gly574Trp) c.1759G>T (p.Gly587Trp) c.1426G>T (p.Gly476Trp) n.1999G>T n.1890G>T | |
1 | g.243426531G>A | CA345667877 | SDCCAG8 | c.1958G>A (p.Gly653Glu) c.1061G>A (p.Gly354Glu) n.165G>A c.1829G>A (p.Gly610Glu) c.1535G>A (p.Gly512Glu) c.1055G>A (p.Gly352Glu) c.1037G>A (p.Gly346Glu) c.1988G>A (p.Gly663Glu) c.1859G>A (p.Gly620Glu) c.1799G>A (p.Gly600Glu) c.2084G>A (p.Gly695Glu) c.2054G>A (p.Gly685Glu) c.1895G>A (p.Gly632Glu) c.1847G>A (p.Gly616Glu) c.1670G>A (p.Gly557Glu) c.1622G>A (p.Gly541Glu) c.1013G>A (p.Gly338Glu) n.2108G>A c.1664G>A (p.Gly555Glu) c.1721G>A (p.Gly574Glu) c.1760G>A (p.Gly587Glu) c.1427G>A (p.Gly476Glu) n.2000G>A n.1891G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.243426531G>C | CA345667878 | SDCCAG8 | c.1958G>C (p.Gly653Ala) c.1061G>C (p.Gly354Ala) n.165G>C c.1829G>C (p.Gly610Ala) c.1535G>C (p.Gly512Ala) c.1055G>C (p.Gly352Ala) c.1037G>C (p.Gly346Ala) c.1988G>C (p.Gly663Ala) c.1859G>C (p.Gly620Ala) c.1799G>C (p.Gly600Ala) c.2084G>C (p.Gly695Ala) c.2054G>C (p.Gly685Ala) c.1895G>C (p.Gly632Ala) c.1847G>C (p.Gly616Ala) c.1670G>C (p.Gly557Ala) c.1622G>C (p.Gly541Ala) c.1013G>C (p.Gly338Ala) n.2108G>C c.1664G>C (p.Gly555Ala) c.1721G>C (p.Gly574Ala) c.1760G>C (p.Gly587Ala) c.1427G>C (p.Gly476Ala) n.2000G>C n.1891G>C | |
1 | g.243426531G= | CA1230390619 | SDCCAG8 | c.1958G= (p.Gly653=) c.1061G= (p.Gly354=) n.165G= c.1829G= (p.Gly610=) c.1535G= (p.Gly512=) c.1055G= (p.Gly352=) c.1037G= (p.Gly346=) c.1988G= (p.Gly663=) c.1859G= (p.Gly620=) c.1799G= (p.Gly600=) c.2084G= (p.Gly695=) c.2054G= (p.Gly685=) c.1895G= (p.Gly632=) c.1847G= (p.Gly616=) c.1670G= (p.Gly557=) c.1622G= (p.Gly541=) c.1013G= (p.Gly338=) n.2108G= c.1664G= (p.Gly555=) c.1721G= (p.Gly574=) c.1760G= (p.Gly587=) c.1427G= (p.Gly476=) n.2000G= n.1891G= | |
1 | g.243426531G>T | CA345667879 | SDCCAG8 | c.1958G>T (p.Gly653Val) c.1061G>T (p.Gly354Val) n.165G>T c.1829G>T (p.Gly610Val) c.1535G>T (p.Gly512Val) c.1055G>T (p.Gly352Val) c.1037G>T (p.Gly346Val) c.1988G>T (p.Gly663Val) c.1859G>T (p.Gly620Val) c.1799G>T (p.Gly600Val) c.2084G>T (p.Gly695Val) c.2054G>T (p.Gly685Val) c.1895G>T (p.Gly632Val) c.1847G>T (p.Gly616Val) c.1670G>T (p.Gly557Val) c.1622G>T (p.Gly541Val) c.1013G>T (p.Gly338Val) n.2108G>T c.1664G>T (p.Gly555Val) c.1721G>T (p.Gly574Val) c.1760G>T (p.Gly587Val) c.1427G>T (p.Gly476Val) n.2000G>T n.1891G>T | |
1 | g.243426532G>A | CA424346886 | SDCCAG8 | c.1959G>A (p.Gly653=) c.1062G>A (p.Gly354=) n.166G>A c.1830G>A (p.Gly610=) c.1536G>A (p.Gly512=) c.1056G>A (p.Gly352=) c.1038G>A (p.Gly346=) c.1989G>A (p.Gly663=) c.1860G>A (p.Gly620=) c.1800G>A (p.Gly600=) c.2085G>A (p.Gly695=) c.2055G>A (p.Gly685=) c.1896G>A (p.Gly632=) c.1848G>A (p.Gly616=) c.1671G>A (p.Gly557=) c.1623G>A (p.Gly541=) c.1014G>A (p.Gly338=) n.2109G>A c.1665G>A (p.Gly555=) c.1722G>A (p.Gly574=) c.1761G>A (p.Gly587=) c.1428G>A (p.Gly476=) n.2001G>A n.1892G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.243426532G>C | CA424346887 | SDCCAG8 | c.1959G>C (p.Gly653=) c.1062G>C (p.Gly354=) n.166G>C c.1830G>C (p.Gly610=) c.1536G>C (p.Gly512=) c.1056G>C (p.Gly352=) c.1038G>C (p.Gly346=) c.1989G>C (p.Gly663=) c.1860G>C (p.Gly620=) c.1800G>C (p.Gly600=) c.2085G>C (p.Gly695=) c.2055G>C (p.Gly685=) c.1896G>C (p.Gly632=) c.1848G>C (p.Gly616=) c.1671G>C (p.Gly557=) c.1623G>C (p.Gly541=) c.1014G>C (p.Gly338=) n.2109G>C c.1665G>C (p.Gly555=) c.1722G>C (p.Gly574=) c.1761G>C (p.Gly587=) c.1428G>C (p.Gly476=) n.2001G>C n.1892G>C | |
1 | g.243426532G= | CA1230390620 | SDCCAG8 | c.1959G= (p.Gly653=) c.1062G= (p.Gly354=) n.166G= c.1830G= (p.Gly610=) c.1536G= (p.Gly512=) c.1056G= (p.Gly352=) c.1038G= (p.Gly346=) c.1989G= (p.Gly663=) c.1860G= (p.Gly620=) c.1800G= (p.Gly600=) c.2085G= (p.Gly695=) c.2055G= (p.Gly685=) c.1896G= (p.Gly632=) c.1848G= (p.Gly616=) c.1671G= (p.Gly557=) c.1623G= (p.Gly541=) c.1014G= (p.Gly338=) n.2109G= c.1665G= (p.Gly555=) c.1722G= (p.Gly574=) c.1761G= (p.Gly587=) c.1428G= (p.Gly476=) n.2001G= n.1892G= | |
1 | g.243426532G>T | CA424346888 | SDCCAG8 | c.1959G>T (p.Gly653=) c.1062G>T (p.Gly354=) n.166G>T c.1830G>T (p.Gly610=) c.1536G>T (p.Gly512=) c.1056G>T (p.Gly352=) c.1038G>T (p.Gly346=) c.1989G>T (p.Gly663=) c.1860G>T (p.Gly620=) c.1800G>T (p.Gly600=) c.2085G>T (p.Gly695=) c.2055G>T (p.Gly685=) c.1896G>T (p.Gly632=) c.1848G>T (p.Gly616=) c.1671G>T (p.Gly557=) c.1623G>T (p.Gly541=) c.1014G>T (p.Gly338=) n.2109G>T c.1665G>T (p.Gly555=) c.1722G>T (p.Gly574=) c.1761G>T (p.Gly587=) c.1428G>T (p.Gly476=) n.2001G>T n.1892G>T | |
1 | g.243426533A= | CA1230390621 | SDCCAG8 | c.1960A= (p.Arg654=) c.1063A= (p.Arg355=) n.167A= c.1831A= (p.Arg611=) c.1537A= (p.Arg513=) c.1057A= (p.Arg353=) c.1039A= (p.Arg347=) c.1990A= (p.Arg664=) c.1861A= (p.Arg621=) c.1801A= (p.Arg601=) c.2086A= (p.Arg696=) c.2056A= (p.Arg686=) c.1897A= (p.Arg633=) c.1849A= (p.Arg617=) c.1672A= (p.Arg558=) c.1624A= (p.Arg542=) c.1015A= (p.Arg339=) n.2110A= c.1666A= (p.Arg556=) c.1723A= (p.Arg575=) c.1762A= (p.Arg588=) c.1429A= (p.Arg477=) n.2002A= n.1893A= | |
1 | g.243426533A>C | CA424346889 | SDCCAG8 | c.1960A>C (p.Arg654=) c.1063A>C (p.Arg355=) n.167A>C c.1831A>C (p.Arg611=) c.1537A>C (p.Arg513=) c.1057A>C (p.Arg353=) c.1039A>C (p.Arg347=) c.1990A>C (p.Arg664=) c.1861A>C (p.Arg621=) c.1801A>C (p.Arg601=) c.2086A>C (p.Arg696=) c.2056A>C (p.Arg686=) c.1897A>C (p.Arg633=) c.1849A>C (p.Arg617=) c.1672A>C (p.Arg558=) c.1624A>C (p.Arg542=) c.1015A>C (p.Arg339=) n.2110A>C c.1666A>C (p.Arg556=) c.1723A>C (p.Arg575=) c.1762A>C (p.Arg588=) c.1429A>C (p.Arg477=) n.2002A>C n.1893A>C | |
1 | g.243426533A>G | CA345667880 | SDCCAG8 | c.1960A>G (p.Arg654Gly) c.1063A>G (p.Arg355Gly) n.167A>G c.1831A>G (p.Arg611Gly) c.1537A>G (p.Arg513Gly) c.1057A>G (p.Arg353Gly) c.1039A>G (p.Arg347Gly) c.1990A>G (p.Arg664Gly) c.1861A>G (p.Arg621Gly) c.1801A>G (p.Arg601Gly) c.2086A>G (p.Arg696Gly) c.2056A>G (p.Arg686Gly) c.1897A>G (p.Arg633Gly) c.1849A>G (p.Arg617Gly) c.1672A>G (p.Arg558Gly) c.1624A>G (p.Arg542Gly) c.1015A>G (p.Arg339Gly) n.2110A>G c.1666A>G (p.Arg556Gly) c.1723A>G (p.Arg575Gly) c.1762A>G (p.Arg588Gly) c.1429A>G (p.Arg477Gly) n.2002A>G n.1893A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.243426533A>T | CA345667881 | SDCCAG8 | c.1960A>T (p.Arg654Ter) c.1063A>T (p.Arg355Ter) n.167A>T c.1831A>T (p.Arg611Ter) c.1537A>T (p.Arg513Ter) c.1057A>T (p.Arg353Ter) c.1039A>T (p.Arg347Ter) c.1990A>T (p.Arg664Ter) c.1861A>T (p.Arg621Ter) c.1801A>T (p.Arg601Ter) c.2086A>T (p.Arg696Ter) c.2056A>T (p.Arg686Ter) c.1897A>T (p.Arg633Ter) c.1849A>T (p.Arg617Ter) c.1672A>T (p.Arg558Ter) c.1624A>T (p.Arg542Ter) c.1015A>T (p.Arg339Ter) n.2110A>T c.1666A>T (p.Arg556Ter) c.1723A>T (p.Arg575Ter) c.1762A>T (p.Arg588Ter) c.1429A>T (p.Arg477Ter) n.2002A>T n.1893A>T | |
1 | g.243426534G>A | CA345667884 | SDCCAG8 | c.1961G>A (p.Arg654Lys) c.1064G>A (p.Arg355Lys) n.168G>A c.1832G>A (p.Arg611Lys) c.1538G>A (p.Arg513Lys) c.1058G>A (p.Arg353Lys) c.1040G>A (p.Arg347Lys) c.1991G>A (p.Arg664Lys) c.1862G>A (p.Arg621Lys) c.1802G>A (p.Arg601Lys) c.2087G>A (p.Arg696Lys) c.2057G>A (p.Arg686Lys) c.1898G>A (p.Arg633Lys) c.1850G>A (p.Arg617Lys) c.1673G>A (p.Arg558Lys) c.1625G>A (p.Arg542Lys) c.1016G>A (p.Arg339Lys) n.2111G>A c.1667G>A (p.Arg556Lys) c.1724G>A (p.Arg575Lys) c.1763G>A (p.Arg588Lys) c.1430G>A (p.Arg477Lys) n.2003G>A n.1894G>A | gnomAD v4 |
1 | g.243426534G>C | CA345667882 | SDCCAG8 | c.1961G>C (p.Arg654Thr) c.1064G>C (p.Arg355Thr) n.168G>C c.1832G>C (p.Arg611Thr) c.1538G>C (p.Arg513Thr) c.1058G>C (p.Arg353Thr) c.1040G>C (p.Arg347Thr) c.1991G>C (p.Arg664Thr) c.1862G>C (p.Arg621Thr) c.1802G>C (p.Arg601Thr) c.2087G>C (p.Arg696Thr) c.2057G>C (p.Arg686Thr) c.1898G>C (p.Arg633Thr) c.1850G>C (p.Arg617Thr) c.1673G>C (p.Arg558Thr) c.1625G>C (p.Arg542Thr) c.1016G>C (p.Arg339Thr) n.2111G>C c.1667G>C (p.Arg556Thr) c.1724G>C (p.Arg575Thr) c.1763G>C (p.Arg588Thr) c.1430G>C (p.Arg477Thr) n.2003G>C n.1894G>C | gnomAD v4 |
1 | g.243426534G>T | CA345667883 | SDCCAG8 | c.1961G>T (p.Arg654Ile) c.1064G>T (p.Arg355Ile) n.168G>T c.1832G>T (p.Arg611Ile) c.1538G>T (p.Arg513Ile) c.1058G>T (p.Arg353Ile) c.1040G>T (p.Arg347Ile) c.1991G>T (p.Arg664Ile) c.1862G>T (p.Arg621Ile) c.1802G>T (p.Arg601Ile) c.2087G>T (p.Arg696Ile) c.2057G>T (p.Arg686Ile) c.1898G>T (p.Arg633Ile) c.1850G>T (p.Arg617Ile) c.1673G>T (p.Arg558Ile) c.1625G>T (p.Arg542Ile) c.1016G>T (p.Arg339Ile) n.2111G>T c.1667G>T (p.Arg556Ile) c.1724G>T (p.Arg575Ile) c.1763G>T (p.Arg588Ile) c.1430G>T (p.Arg477Ile) n.2003G>T n.1894G>T | |
1 | g.243426535A= | CA1230390622 | SDCCAG8 | c.1962A= (p.Arg654=) c.1065A= (p.Arg355=) n.169A= c.1833A= (p.Arg611=) c.1539A= (p.Arg513=) c.1059A= (p.Arg353=) c.1041A= (p.Arg347=) c.1992A= (p.Arg664=) c.1863A= (p.Arg621=) c.1803A= (p.Arg601=) c.2088A= (p.Arg696=) c.2058A= (p.Arg686=) c.1899A= (p.Arg633=) c.1851A= (p.Arg617=) c.1674A= (p.Arg558=) c.1626A= (p.Arg542=) c.1017A= (p.Arg339=) n.2112A= c.1668A= (p.Arg556=) c.1725A= (p.Arg575=) c.1764A= (p.Arg588=) c.1431A= (p.Arg477=) n.2004A= n.1895A= | |
1 | g.243426535A>C | CA345667885 | SDCCAG8 | c.1962A>C (p.Arg654Ser) c.1065A>C (p.Arg355Ser) n.169A>C c.1833A>C (p.Arg611Ser) c.1539A>C (p.Arg513Ser) c.1059A>C (p.Arg353Ser) c.1041A>C (p.Arg347Ser) c.1992A>C (p.Arg664Ser) c.1863A>C (p.Arg621Ser) c.1803A>C (p.Arg601Ser) c.2088A>C (p.Arg696Ser) c.2058A>C (p.Arg686Ser) c.1899A>C (p.Arg633Ser) c.1851A>C (p.Arg617Ser) c.1674A>C (p.Arg558Ser) c.1626A>C (p.Arg542Ser) c.1017A>C (p.Arg339Ser) n.2112A>C c.1668A>C (p.Arg556Ser) c.1725A>C (p.Arg575Ser) c.1764A>C (p.Arg588Ser) c.1431A>C (p.Arg477Ser) n.2004A>C n.1895A>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.243426535A>G | CA424346890 | SDCCAG8 | c.1962A>G (p.Arg654=) c.1065A>G (p.Arg355=) n.169A>G c.1833A>G (p.Arg611=) c.1539A>G (p.Arg513=) c.1059A>G (p.Arg353=) c.1041A>G (p.Arg347=) c.1992A>G (p.Arg664=) c.1863A>G (p.Arg621=) c.1803A>G (p.Arg601=) c.2088A>G (p.Arg696=) c.2058A>G (p.Arg686=) c.1899A>G (p.Arg633=) c.1851A>G (p.Arg617=) c.1674A>G (p.Arg558=) c.1626A>G (p.Arg542=) c.1017A>G (p.Arg339=) n.2112A>G c.1668A>G (p.Arg556=) c.1725A>G (p.Arg575=) c.1764A>G (p.Arg588=) c.1431A>G (p.Arg477=) n.2004A>G n.1895A>G | |
1 | g.243426535A>T | CA345667886 | SDCCAG8 | c.1962A>T (p.Arg654Ser) c.1065A>T (p.Arg355Ser) n.169A>T c.1833A>T (p.Arg611Ser) c.1539A>T (p.Arg513Ser) c.1059A>T (p.Arg353Ser) c.1041A>T (p.Arg347Ser) c.1992A>T (p.Arg664Ser) c.1863A>T (p.Arg621Ser) c.1803A>T (p.Arg601Ser) c.2088A>T (p.Arg696Ser) c.2058A>T (p.Arg686Ser) c.1899A>T (p.Arg633Ser) c.1851A>T (p.Arg617Ser) c.1674A>T (p.Arg558Ser) c.1626A>T (p.Arg542Ser) c.1017A>T (p.Arg339Ser) n.2112A>T c.1668A>T (p.Arg556Ser) c.1725A>T (p.Arg575Ser) c.1764A>T (p.Arg588Ser) c.1431A>T (p.Arg477Ser) n.2004A>T n.1895A>T | |
1 | g.243426536G>A | CA1483784 | SDCCAG8 | c.1963G>A (p.Val655Ile) c.1066G>A (p.Val356Ile) n.170G>A c.1834G>A (p.Val612Ile) c.1540G>A (p.Val514Ile) c.1060G>A (p.Val354Ile) c.1042G>A (p.Val348Ile) c.1993G>A (p.Val665Ile) c.1864G>A (p.Val622Ile) c.1804G>A (p.Val602Ile) c.2089G>A (p.Val697Ile) c.2059G>A (p.Val687Ile) c.1900G>A (p.Val634Ile) c.1852G>A (p.Val618Ile) c.1675G>A (p.Val559Ile) c.1627G>A (p.Val543Ile) c.1018G>A (p.Val340Ile) n.2113G>A c.1669G>A (p.Val557Ile) c.1726G>A (p.Val576Ile) c.1765G>A (p.Val589Ile) c.1432G>A (p.Val478Ile) n.2005G>A n.1896G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.243426536G>C | CA345667887 | SDCCAG8 | c.1963G>C (p.Val655Leu) c.1066G>C (p.Val356Leu) n.170G>C c.1834G>C (p.Val612Leu) c.1540G>C (p.Val514Leu) c.1060G>C (p.Val354Leu) c.1042G>C (p.Val348Leu) c.1993G>C (p.Val665Leu) c.1864G>C (p.Val622Leu) c.1804G>C (p.Val602Leu) c.2089G>C (p.Val697Leu) c.2059G>C (p.Val687Leu) c.1900G>C (p.Val634Leu) c.1852G>C (p.Val618Leu) c.1675G>C (p.Val559Leu) c.1627G>C (p.Val543Leu) c.1018G>C (p.Val340Leu) n.2113G>C c.1669G>C (p.Val557Leu) c.1726G>C (p.Val576Leu) c.1765G>C (p.Val589Leu) c.1432G>C (p.Val478Leu) n.2005G>C n.1896G>C | gnomAD v4 |
1 | g.243426536G= | CA1230390623 | SDCCAG8 | c.1963G= (p.Val655=) c.1066G= (p.Val356=) n.170G= c.1834G= (p.Val612=) c.1540G= (p.Val514=) c.1060G= (p.Val354=) c.1042G= (p.Val348=) c.1993G= (p.Val665=) c.1864G= (p.Val622=) c.1804G= (p.Val602=) c.2089G= (p.Val697=) c.2059G= (p.Val687=) c.1900G= (p.Val634=) c.1852G= (p.Val618=) c.1675G= (p.Val559=) c.1627G= (p.Val543=) c.1018G= (p.Val340=) n.2113G= c.1669G= (p.Val557=) c.1726G= (p.Val576=) c.1765G= (p.Val589=) c.1432G= (p.Val478=) n.2005G= n.1896G= | |
1 | g.243426536G>T | CA345667888 | SDCCAG8 | c.1963G>T (p.Val655Leu) c.1066G>T (p.Val356Leu) n.170G>T c.1834G>T (p.Val612Leu) c.1540G>T (p.Val514Leu) c.1060G>T (p.Val354Leu) c.1042G>T (p.Val348Leu) c.1993G>T (p.Val665Leu) c.1864G>T (p.Val622Leu) c.1804G>T (p.Val602Leu) c.2089G>T (p.Val697Leu) c.2059G>T (p.Val687Leu) c.1900G>T (p.Val634Leu) c.1852G>T (p.Val618Leu) c.1675G>T (p.Val559Leu) c.1627G>T (p.Val543Leu) c.1018G>T (p.Val340Leu) n.2113G>T c.1669G>T (p.Val557Leu) c.1726G>T (p.Val576Leu) c.1765G>T (p.Val589Leu) c.1432G>T (p.Val478Leu) n.2005G>T n.1896G>T | |
1 | g.243426537T>A | CA345667889 | SDCCAG8 | c.1964T>A (p.Val655Glu) c.1067T>A (p.Val356Glu) n.171T>A c.1835T>A (p.Val612Glu) c.1541T>A (p.Val514Glu) c.1061T>A (p.Val354Glu) c.1043T>A (p.Val348Glu) c.1994T>A (p.Val665Glu) c.1865T>A (p.Val622Glu) c.1805T>A (p.Val602Glu) c.2090T>A (p.Val697Glu) c.2060T>A (p.Val687Glu) c.1901T>A (p.Val634Glu) c.1853T>A (p.Val618Glu) c.1676T>A (p.Val559Glu) c.1628T>A (p.Val543Glu) c.1019T>A (p.Val340Glu) n.2114T>A c.1670T>A (p.Val557Glu) c.1727T>A (p.Val576Glu) c.1766T>A (p.Val589Glu) c.1433T>A (p.Val478Glu) n.2006T>A n.1897T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.243426537T>C | CA345667890 | SDCCAG8 | c.1964T>C (p.Val655Ala) c.1067T>C (p.Val356Ala) n.171T>C c.1835T>C (p.Val612Ala) c.1541T>C (p.Val514Ala) c.1061T>C (p.Val354Ala) c.1043T>C (p.Val348Ala) c.1994T>C (p.Val665Ala) c.1865T>C (p.Val622Ala) c.1805T>C (p.Val602Ala) c.2090T>C (p.Val697Ala) c.2060T>C (p.Val687Ala) c.1901T>C (p.Val634Ala) c.1853T>C (p.Val618Ala) c.1676T>C (p.Val559Ala) c.1628T>C (p.Val543Ala) c.1019T>C (p.Val340Ala) n.2114T>C c.1670T>C (p.Val557Ala) c.1727T>C (p.Val576Ala) c.1766T>C (p.Val589Ala) c.1433T>C (p.Val478Ala) n.2006T>C n.1897T>C | |
1 | g.243426537T>G | CA345667891 | SDCCAG8 | c.1964T>G (p.Val655Gly) c.1067T>G (p.Val356Gly) n.171T>G c.1835T>G (p.Val612Gly) c.1541T>G (p.Val514Gly) c.1061T>G (p.Val354Gly) c.1043T>G (p.Val348Gly) c.1994T>G (p.Val665Gly) c.1865T>G (p.Val622Gly) c.1805T>G (p.Val602Gly) c.2090T>G (p.Val697Gly) c.2060T>G (p.Val687Gly) c.1901T>G (p.Val634Gly) c.1853T>G (p.Val618Gly) c.1676T>G (p.Val559Gly) c.1628T>G (p.Val543Gly) c.1019T>G (p.Val340Gly) n.2114T>G c.1670T>G (p.Val557Gly) c.1727T>G (p.Val576Gly) c.1766T>G (p.Val589Gly) c.1433T>G (p.Val478Gly) n.2006T>G n.1897T>G | |
1 | g.243426537T= | CA1230390624 | SDCCAG8 | c.1964T= (p.Val655=) c.1067T= (p.Val356=) n.171T= c.1835T= (p.Val612=) c.1541T= (p.Val514=) c.1061T= (p.Val354=) c.1043T= (p.Val348=) c.1994T= (p.Val665=) c.1865T= (p.Val622=) c.1805T= (p.Val602=) c.2090T= (p.Val697=) c.2060T= (p.Val687=) c.1901T= (p.Val634=) c.1853T= (p.Val618=) c.1676T= (p.Val559=) c.1628T= (p.Val543=) c.1019T= (p.Val340=) n.2114T= c.1670T= (p.Val557=) c.1727T= (p.Val576=) c.1766T= (p.Val589=) c.1433T= (p.Val478=) n.2006T= n.1897T= |