Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.50242468G>ACA392377084HDCc.1781C>T (p.Ala594Val)
c.1682C>T (p.Ala561Val)
n.1525C>T
c.1544C>T (p.Ala515Val)
c.1349C>T (p.Ala450Val)
c.1886C>T (p.Ala629Val)
c.1787C>T (p.Ala596Val)
c.1658C>T (p.Ala553Val)
c.1649C>T (p.Ala550Val)
c.1454C>T (p.Ala485Val)
gnomAD v4
15g.50242468G>CCA392377085HDCc.1781C>G (p.Ala594Gly)
c.1682C>G (p.Ala561Gly)
n.1525C>G
c.1544C>G (p.Ala515Gly)
c.1349C>G (p.Ala450Gly)
c.1886C>G (p.Ala629Gly)
c.1787C>G (p.Ala596Gly)
c.1658C>G (p.Ala553Gly)
c.1649C>G (p.Ala550Gly)
c.1454C>G (p.Ala485Gly)
15g.50242468G>TCA392377086HDCc.1781C>A (p.Ala594Asp)
c.1682C>A (p.Ala561Asp)
n.1525C>A
c.1544C>A (p.Ala515Asp)
c.1349C>A (p.Ala450Asp)
c.1886C>A (p.Ala629Asp)
c.1787C>A (p.Ala596Asp)
c.1658C>A (p.Ala553Asp)
c.1649C>A (p.Ala550Asp)
c.1454C>A (p.Ala485Asp)
15g.50242469C>ACA392377087HDCc.1780G>T (p.Ala594Ser)
c.1681G>T (p.Ala561Ser)
n.1524G>T
c.1543G>T (p.Ala515Ser)
c.1348G>T (p.Ala450Ser)
c.1885G>T (p.Ala629Ser)
c.1786G>T (p.Ala596Ser)
c.1657G>T (p.Ala553Ser)
c.1648G>T (p.Ala550Ser)
c.1453G>T (p.Ala485Ser)
15g.50242469C>GCA392377089HDCc.1780G>C (p.Ala594Pro)
c.1681G>C (p.Ala561Pro)
n.1524G>C
c.1543G>C (p.Ala515Pro)
c.1348G>C (p.Ala450Pro)
c.1885G>C (p.Ala629Pro)
c.1786G>C (p.Ala596Pro)
c.1657G>C (p.Ala553Pro)
c.1648G>C (p.Ala550Pro)
c.1453G>C (p.Ala485Pro)
15g.50242469C>TCA392377088HDCc.1780G>A (p.Ala594Thr)
c.1681G>A (p.Ala561Thr)
n.1524G>A
c.1543G>A (p.Ala515Thr)
c.1348G>A (p.Ala450Thr)
c.1885G>A (p.Ala629Thr)
c.1786G>A (p.Ala596Thr)
c.1657G>A (p.Ala553Thr)
c.1648G>A (p.Ala550Thr)
c.1453G>A (p.Ala485Thr)
COSMIC
15g.50242470A>CCA392377090HDCc.1779T>G (p.Ser593Arg)
c.1680T>G (p.Ser560Arg)
n.1523T>G
c.1542T>G (p.Ser514Arg)
c.1347T>G (p.Ser449Arg)
c.1884T>G (p.Ser628Arg)
c.1785T>G (p.Ser595Arg)
c.1656T>G (p.Ser552Arg)
c.1647T>G (p.Ser549Arg)
c.1452T>G (p.Ser484Arg)
gnomAD v4
15g.50242470A>GCA490314107HDCc.1779T>C (p.Ser593=)
c.1680T>C (p.Ser560=)
n.1523T>C
c.1542T>C (p.Ser514=)
c.1347T>C (p.Ser449=)
c.1884T>C (p.Ser628=)
c.1785T>C (p.Ser595=)
c.1656T>C (p.Ser552=)
c.1647T>C (p.Ser549=)
c.1452T>C (p.Ser484=)
15g.50242470A>TCA392377091HDCc.1779T>A (p.Ser593Arg)
c.1680T>A (p.Ser560Arg)
n.1523T>A
c.1542T>A (p.Ser514Arg)
c.1347T>A (p.Ser449Arg)
c.1884T>A (p.Ser628Arg)
c.1785T>A (p.Ser595Arg)
c.1656T>A (p.Ser552Arg)
c.1647T>A (p.Ser549Arg)
c.1452T>A (p.Ser484Arg)
15g.50242471C>ACA392377092HDCc.1778G>T (p.Ser593Ile)
c.1679G>T (p.Ser560Ile)
n.1522G>T
c.1541G>T (p.Ser514Ile)
c.1346G>T (p.Ser449Ile)
c.1883G>T (p.Ser628Ile)
c.1784G>T (p.Ser595Ile)
c.1655G>T (p.Ser552Ile)
c.1646G>T (p.Ser549Ile)
c.1451G>T (p.Ser484Ile)
COSMIC
15g.50242471C=CA2176326607HDCc.1778G= (p.Ser593=)
c.1679G= (p.Ser560=)
n.1522G=
c.1541G= (p.Ser514=)
c.1346G= (p.Ser449=)
c.1883G= (p.Ser628=)
c.1784G= (p.Ser595=)
c.1655G= (p.Ser552=)
c.1646G= (p.Ser549=)
c.1451G= (p.Ser484=)
15g.50242471C>GCA392377093HDCc.1778G>C (p.Ser593Thr)
c.1679G>C (p.Ser560Thr)
n.1522G>C
c.1541G>C (p.Ser514Thr)
c.1346G>C (p.Ser449Thr)
c.1883G>C (p.Ser628Thr)
c.1784G>C (p.Ser595Thr)
c.1655G>C (p.Ser552Thr)
c.1646G>C (p.Ser549Thr)
c.1451G>C (p.Ser484Thr)
15g.50242471C>TCA7554495HDCc.1778G>A (p.Ser593Asn)
c.1679G>A (p.Ser560Asn)
n.1522G>A
c.1541G>A (p.Ser514Asn)
c.1346G>A (p.Ser449Asn)
c.1883G>A (p.Ser628Asn)
c.1784G>A (p.Ser595Asn)
c.1655G>A (p.Ser552Asn)
c.1646G>A (p.Ser549Asn)
c.1451G>A (p.Ser484Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242472T>ACA392377094HDCc.1777A>T (p.Ser593Cys)
c.1678A>T (p.Ser560Cys)
n.1521A>T
c.1540A>T (p.Ser514Cys)
c.1345A>T (p.Ser449Cys)
c.1882A>T (p.Ser628Cys)
c.1783A>T (p.Ser595Cys)
c.1654A>T (p.Ser552Cys)
c.1645A>T (p.Ser549Cys)
c.1450A>T (p.Ser484Cys)
15g.50242472T>CCA392377095HDCc.1777A>G (p.Ser593Gly)
c.1678A>G (p.Ser560Gly)
n.1521A>G
c.1540A>G (p.Ser514Gly)
c.1345A>G (p.Ser449Gly)
c.1882A>G (p.Ser628Gly)
c.1783A>G (p.Ser595Gly)
c.1654A>G (p.Ser552Gly)
c.1645A>G (p.Ser549Gly)
c.1450A>G (p.Ser484Gly)
15g.50242472T>GCA392377096HDCc.1777A>C (p.Ser593Arg)
c.1678A>C (p.Ser560Arg)
n.1521A>C
c.1540A>C (p.Ser514Arg)
c.1345A>C (p.Ser449Arg)
c.1882A>C (p.Ser628Arg)
c.1783A>C (p.Ser595Arg)
c.1654A>C (p.Ser552Arg)
c.1645A>C (p.Ser549Arg)
c.1450A>C (p.Ser484Arg)
15g.50242473C>ACA490314112HDCc.1776G>T (p.Val592=)
c.1677G>T (p.Val559=)
n.1520G>T
c.1539G>T (p.Val513=)
c.1344G>T (p.Val448=)
c.1881G>T (p.Val627=)
c.1782G>T (p.Val594=)
c.1653G>T (p.Val551=)
c.1644G>T (p.Val548=)
c.1449G>T (p.Val483=)
15g.50242473C>GCA490314113HDCc.1776G>C (p.Val592=)
c.1677G>C (p.Val559=)
n.1520G>C
c.1539G>C (p.Val513=)
c.1344G>C (p.Val448=)
c.1881G>C (p.Val627=)
c.1782G>C (p.Val594=)
c.1653G>C (p.Val551=)
c.1644G>C (p.Val548=)
c.1449G>C (p.Val483=)
15g.50242473C>TCA490314114HDCc.1776G>A (p.Val592=)
c.1677G>A (p.Val559=)
n.1520G>A
c.1539G>A (p.Val513=)
c.1344G>A (p.Val448=)
c.1881G>A (p.Val627=)
c.1782G>A (p.Val594=)
c.1653G>A (p.Val551=)
c.1644G>A (p.Val548=)
c.1449G>A (p.Val483=)
gnomAD v4
15g.50242474A=CA2176326608HDCc.1775T= (p.Val592=)
c.1676T= (p.Val559=)
n.1519T=
c.1538T= (p.Val513=)
c.1343T= (p.Val448=)
c.1880T= (p.Val627=)
c.1781T= (p.Val594=)
c.1652T= (p.Val551=)
c.1643T= (p.Val548=)
c.1448T= (p.Val483=)
15g.50242474A>CCA392377097HDCc.1775T>G (p.Val592Gly)
c.1676T>G (p.Val559Gly)
n.1519T>G
c.1538T>G (p.Val513Gly)
c.1343T>G (p.Val448Gly)
c.1880T>G (p.Val627Gly)
c.1781T>G (p.Val594Gly)
c.1652T>G (p.Val551Gly)
c.1643T>G (p.Val548Gly)
c.1448T>G (p.Val483Gly)
15g.50242474A>GCA392377098HDCc.1775T>C (p.Val592Ala)
c.1676T>C (p.Val559Ala)
n.1519T>C
c.1538T>C (p.Val513Ala)
c.1343T>C (p.Val448Ala)
c.1880T>C (p.Val627Ala)
c.1781T>C (p.Val594Ala)
c.1652T>C (p.Val551Ala)
c.1643T>C (p.Val548Ala)
c.1448T>C (p.Val483Ala)
ClinVar dbSNP gnomAD v4
15g.50242474A>TCA392377099HDCc.1775T>A (p.Val592Glu)
c.1676T>A (p.Val559Glu)
n.1519T>A
c.1538T>A (p.Val513Glu)
c.1343T>A (p.Val448Glu)
c.1880T>A (p.Val627Glu)
c.1781T>A (p.Val594Glu)
c.1652T>A (p.Val551Glu)
c.1643T>A (p.Val548Glu)
c.1448T>A (p.Val483Glu)
15g.50242475C>ACA392377101HDCc.1774G>T (p.Val592Leu)
c.1675G>T (p.Val559Leu)
n.1518G>T
c.1537G>T (p.Val513Leu)
c.1342G>T (p.Val448Leu)
c.1879G>T (p.Val627Leu)
c.1780G>T (p.Val594Leu)
c.1651G>T (p.Val551Leu)
c.1642G>T (p.Val548Leu)
c.1447G>T (p.Val483Leu)
15g.50242475C=CA2176326609HDCc.1774G= (p.Val592=)
c.1675G= (p.Val559=)
n.1518G=
c.1537G= (p.Val513=)
c.1342G= (p.Val448=)
c.1879G= (p.Val627=)
c.1780G= (p.Val594=)
c.1651G= (p.Val551=)
c.1642G= (p.Val548=)
c.1447G= (p.Val483=)
15g.50242475C>GCA270413899HDCc.1774G>C (p.Val592Leu)
c.1675G>C (p.Val559Leu)
n.1518G>C
c.1537G>C (p.Val513Leu)
c.1342G>C (p.Val448Leu)
c.1879G>C (p.Val627Leu)
c.1780G>C (p.Val594Leu)
c.1651G>C (p.Val551Leu)
c.1642G>C (p.Val548Leu)
c.1447G>C (p.Val483Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.50242475C>TCA392377100HDCc.1774G>A (p.Val592Met)
c.1675G>A (p.Val559Met)
n.1518G>A
c.1537G>A (p.Val513Met)
c.1342G>A (p.Val448Met)
c.1879G>A (p.Val627Met)
c.1780G>A (p.Val594Met)
c.1651G>A (p.Val551Met)
c.1642G>A (p.Val548Met)
c.1447G>A (p.Val483Met)
15g.50242476T>ACA490314118HDCc.1773A>T (p.Pro591=)
c.1674A>T (p.Pro558=)
n.1517A>T
c.1536A>T (p.Pro512=)
c.1341A>T (p.Pro447=)
c.1878A>T (p.Pro626=)
c.1779A>T (p.Pro593=)
c.1650A>T (p.Pro550=)
c.1641A>T (p.Pro547=)
c.1446A>T (p.Pro482=)
15g.50242476T>CCA490314119HDCc.1773A>G (p.Pro591=)
c.1674A>G (p.Pro558=)
n.1517A>G
c.1536A>G (p.Pro512=)
c.1341A>G (p.Pro447=)
c.1878A>G (p.Pro626=)
c.1779A>G (p.Pro593=)
c.1650A>G (p.Pro550=)
c.1641A>G (p.Pro547=)
c.1446A>G (p.Pro482=)
15g.50242476T>GCA490314121HDCc.1773A>C (p.Pro591=)
c.1674A>C (p.Pro558=)
n.1517A>C
c.1536A>C (p.Pro512=)
c.1341A>C (p.Pro447=)
c.1878A>C (p.Pro626=)
c.1779A>C (p.Pro593=)
c.1650A>C (p.Pro550=)
c.1641A>C (p.Pro547=)
c.1446A>C (p.Pro482=)
15g.50242477G>ACA392377102HDCc.1772C>T (p.Pro591Leu)
c.1673C>T (p.Pro558Leu)
n.1516C>T
c.1535C>T (p.Pro512Leu)
c.1340C>T (p.Pro447Leu)
c.1877C>T (p.Pro626Leu)
c.1778C>T (p.Pro593Leu)
c.1649C>T (p.Pro550Leu)
c.1640C>T (p.Pro547Leu)
c.1445C>T (p.Pro482Leu)
15g.50242477G>CCA392377104HDCc.1772C>G (p.Pro591Arg)
c.1673C>G (p.Pro558Arg)
n.1516C>G
c.1535C>G (p.Pro512Arg)
c.1340C>G (p.Pro447Arg)
c.1877C>G (p.Pro626Arg)
c.1778C>G (p.Pro593Arg)
c.1649C>G (p.Pro550Arg)
c.1640C>G (p.Pro547Arg)
c.1445C>G (p.Pro482Arg)
15g.50242477G>TCA392377103HDCc.1772C>A (p.Pro591Gln)
c.1673C>A (p.Pro558Gln)
n.1516C>A
c.1535C>A (p.Pro512Gln)
c.1340C>A (p.Pro447Gln)
c.1877C>A (p.Pro626Gln)
c.1778C>A (p.Pro593Gln)
c.1649C>A (p.Pro550Gln)
c.1640C>A (p.Pro547Gln)
c.1445C>A (p.Pro482Gln)
15g.50242478G>ACA7554496HDCc.1771C>T (p.Pro591Ser)
c.1672C>T (p.Pro558Ser)
n.1515C>T
c.1534C>T (p.Pro512Ser)
c.1339C>T (p.Pro447Ser)
c.1876C>T (p.Pro626Ser)
c.1777C>T (p.Pro593Ser)
c.1648C>T (p.Pro550Ser)
c.1639C>T (p.Pro547Ser)
c.1444C>T (p.Pro482Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242478G>CCA392377106HDCc.1771C>G (p.Pro591Ala)
c.1672C>G (p.Pro558Ala)
n.1515C>G
c.1534C>G (p.Pro512Ala)
c.1339C>G (p.Pro447Ala)
c.1876C>G (p.Pro626Ala)
c.1777C>G (p.Pro593Ala)
c.1648C>G (p.Pro550Ala)
c.1639C>G (p.Pro547Ala)
c.1444C>G (p.Pro482Ala)
15g.50242478G=CA2176326610HDCc.1771C= (p.Pro591=)
c.1672C= (p.Pro558=)
n.1515C=
c.1534C= (p.Pro512=)
c.1339C= (p.Pro447=)
c.1876C= (p.Pro626=)
c.1777C= (p.Pro593=)
c.1648C= (p.Pro550=)
c.1639C= (p.Pro547=)
c.1444C= (p.Pro482=)
15g.50242478G>TCA392377105HDCc.1771C>A (p.Pro591Thr)
c.1672C>A (p.Pro558Thr)
n.1515C>A
c.1534C>A (p.Pro512Thr)
c.1339C>A (p.Pro447Thr)
c.1876C>A (p.Pro626Thr)
c.1777C>A (p.Pro593Thr)
c.1648C>A (p.Pro550Thr)
c.1639C>A (p.Pro547Thr)
c.1444C>A (p.Pro482Thr)
15g.50242479C>ACA490314127HDCc.1770G>T (p.Val590=)
c.1671G>T (p.Val557=)
n.1514G>T
c.1533G>T (p.Val511=)
c.1338G>T (p.Val446=)
c.1875G>T (p.Val625=)
c.1776G>T (p.Val592=)
c.1647G>T (p.Val549=)
c.1638G>T (p.Val546=)
c.1443G>T (p.Val481=)
15g.50242479C=CA2176326611HDCc.1770G= (p.Val590=)
c.1671G= (p.Val557=)
n.1514G=
c.1533G= (p.Val511=)
c.1338G= (p.Val446=)
c.1875G= (p.Val625=)
c.1776G= (p.Val592=)
c.1647G= (p.Val549=)
c.1638G= (p.Val546=)
c.1443G= (p.Val481=)
15g.50242479C>GCA490314124HDCc.1770G>C (p.Val590=)
c.1671G>C (p.Val557=)
n.1514G>C
c.1533G>C (p.Val511=)
c.1338G>C (p.Val446=)
c.1875G>C (p.Val625=)
c.1776G>C (p.Val592=)
c.1647G>C (p.Val549=)
c.1638G>C (p.Val546=)
c.1443G>C (p.Val481=)
15g.50242479C>TCA7554497HDCc.1770G>A (p.Val590=)
c.1671G>A (p.Val557=)
n.1514G>A
c.1533G>A (p.Val511=)
c.1338G>A (p.Val446=)
c.1875G>A (p.Val625=)
c.1776G>A (p.Val592=)
c.1647G>A (p.Val549=)
c.1638G>A (p.Val546=)
c.1443G>A (p.Val481=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242480A>CCA392377107HDCc.1769T>G (p.Val590Gly)
c.1670T>G (p.Val557Gly)
n.1513T>G
c.1532T>G (p.Val511Gly)
c.1337T>G (p.Val446Gly)
c.1874T>G (p.Val625Gly)
c.1775T>G (p.Val592Gly)
c.1646T>G (p.Val549Gly)
c.1637T>G (p.Val546Gly)
c.1442T>G (p.Val481Gly)
15g.50242480A>GCA392377108HDCc.1769T>C (p.Val590Ala)
c.1670T>C (p.Val557Ala)
n.1513T>C
c.1532T>C (p.Val511Ala)
c.1337T>C (p.Val446Ala)
c.1874T>C (p.Val625Ala)
c.1775T>C (p.Val592Ala)
c.1646T>C (p.Val549Ala)
c.1637T>C (p.Val546Ala)
c.1442T>C (p.Val481Ala)
15g.50242480A>TCA392377109HDCc.1769T>A (p.Val590Glu)
c.1670T>A (p.Val557Glu)
n.1513T>A
c.1532T>A (p.Val511Glu)
c.1337T>A (p.Val446Glu)
c.1874T>A (p.Val625Glu)
c.1775T>A (p.Val592Glu)
c.1646T>A (p.Val549Glu)
c.1637T>A (p.Val546Glu)
c.1442T>A (p.Val481Glu)
15g.50242481C>ACA392377110HDCc.1768G>T (p.Val590Leu)
c.1669G>T (p.Val557Leu)
n.1512G>T
c.1531G>T (p.Val511Leu)
c.1336G>T (p.Val446Leu)
c.1873G>T (p.Val625Leu)
c.1774G>T (p.Val592Leu)
c.1645G>T (p.Val549Leu)
c.1636G>T (p.Val546Leu)
c.1441G>T (p.Val481Leu)
15g.50242481C>GCA392377111HDCc.1768G>C (p.Val590Leu)
c.1669G>C (p.Val557Leu)
n.1512G>C
c.1531G>C (p.Val511Leu)
c.1336G>C (p.Val446Leu)
c.1873G>C (p.Val625Leu)
c.1774G>C (p.Val592Leu)
c.1645G>C (p.Val549Leu)
c.1636G>C (p.Val546Leu)
c.1441G>C (p.Val481Leu)
15g.50242481C>TCA392377112HDCc.1768G>A (p.Val590Met)
c.1669G>A (p.Val557Met)
n.1512G>A
c.1531G>A (p.Val511Met)
c.1336G>A (p.Val446Met)
c.1873G>A (p.Val625Met)
c.1774G>A (p.Val592Met)
c.1645G>A (p.Val549Met)
c.1636G>A (p.Val546Met)
c.1441G>A (p.Val481Met)
15g.50242482A>CCA392377113HDCc.1767T>G (p.Ser589Arg)
c.1668T>G (p.Ser556Arg)
n.1511T>G
c.1530T>G (p.Ser510Arg)
c.1335T>G (p.Ser445Arg)
c.1872T>G (p.Ser624Arg)
c.1773T>G (p.Ser591Arg)
c.1644T>G (p.Ser548Arg)
c.1635T>G (p.Ser545Arg)
c.1440T>G (p.Ser480Arg)
15g.50242482A>GCA490314129HDCc.1767T>C (p.Ser589=)
c.1668T>C (p.Ser556=)
n.1511T>C
c.1530T>C (p.Ser510=)
c.1335T>C (p.Ser445=)
c.1872T>C (p.Ser624=)
c.1773T>C (p.Ser591=)
c.1644T>C (p.Ser548=)
c.1635T>C (p.Ser545=)
c.1440T>C (p.Ser480=)
15g.50242482A>TCA392377114HDCc.1767T>A (p.Ser589Arg)
c.1668T>A (p.Ser556Arg)
n.1511T>A
c.1530T>A (p.Ser510Arg)
c.1335T>A (p.Ser445Arg)
c.1872T>A (p.Ser624Arg)
c.1773T>A (p.Ser591Arg)
c.1644T>A (p.Ser548Arg)
c.1635T>A (p.Ser545Arg)
c.1440T>A (p.Ser480Arg)
15g.50242483C>ACA392377115HDCc.1766G>T (p.Ser589Ile)
c.1667G>T (p.Ser556Ile)
n.1510G>T
c.1529G>T (p.Ser510Ile)
c.1334G>T (p.Ser445Ile)
c.1871G>T (p.Ser624Ile)
c.1772G>T (p.Ser591Ile)
c.1643G>T (p.Ser548Ile)
c.1634G>T (p.Ser545Ile)
c.1439G>T (p.Ser480Ile)
15g.50242483C>GCA392377116HDCc.1766G>C (p.Ser589Thr)
c.1667G>C (p.Ser556Thr)
n.1510G>C
c.1529G>C (p.Ser510Thr)
c.1334G>C (p.Ser445Thr)
c.1871G>C (p.Ser624Thr)
c.1772G>C (p.Ser591Thr)
c.1643G>C (p.Ser548Thr)
c.1634G>C (p.Ser545Thr)
c.1439G>C (p.Ser480Thr)
15g.50242483C>TCA392377117HDCc.1766G>A (p.Ser589Asn)
c.1667G>A (p.Ser556Asn)
n.1510G>A
c.1529G>A (p.Ser510Asn)
c.1334G>A (p.Ser445Asn)
c.1871G>A (p.Ser624Asn)
c.1772G>A (p.Ser591Asn)
c.1643G>A (p.Ser548Asn)
c.1634G>A (p.Ser545Asn)
c.1439G>A (p.Ser480Asn)
gnomAD v4
15g.50242484T>ACA392377119HDCc.1765A>T (p.Ser589Cys)
c.1666A>T (p.Ser556Cys)
n.1509A>T
c.1528A>T (p.Ser510Cys)
c.1333A>T (p.Ser445Cys)
c.1870A>T (p.Ser624Cys)
c.1771A>T (p.Ser591Cys)
c.1642A>T (p.Ser548Cys)
c.1633A>T (p.Ser545Cys)
c.1438A>T (p.Ser480Cys)
15g.50242484T>CCA7554498HDCc.1765A>G (p.Ser589Gly)
c.1666A>G (p.Ser556Gly)
n.1509A>G
c.1528A>G (p.Ser510Gly)
c.1333A>G (p.Ser445Gly)
c.1870A>G (p.Ser624Gly)
c.1771A>G (p.Ser591Gly)
c.1642A>G (p.Ser548Gly)
c.1633A>G (p.Ser545Gly)
c.1438A>G (p.Ser480Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242484T>GCA392377118HDCc.1765A>C (p.Ser589Arg)
c.1666A>C (p.Ser556Arg)
n.1509A>C
c.1528A>C (p.Ser510Arg)
c.1333A>C (p.Ser445Arg)
c.1870A>C (p.Ser624Arg)
c.1771A>C (p.Ser591Arg)
c.1642A>C (p.Ser548Arg)
c.1633A>C (p.Ser545Arg)
c.1438A>C (p.Ser480Arg)
15g.50242484T=CA2176326612HDCc.1765A= (p.Ser589=)
c.1666A= (p.Ser556=)
n.1509A=
c.1528A= (p.Ser510=)
c.1333A= (p.Ser445=)
c.1870A= (p.Ser624=)
c.1771A= (p.Ser591=)
c.1642A= (p.Ser548=)
c.1633A= (p.Ser545=)
c.1438A= (p.Ser480=)
15g.50242485G>ACA490314131HDCc.1764C>T (p.Asn588=)
c.1665C>T (p.Asn555=)
n.1508C>T
c.1527C>T (p.Asn509=)
c.1332C>T (p.Asn444=)
c.1869C>T (p.Asn623=)
c.1770C>T (p.Asn590=)
c.1641C>T (p.Asn547=)
c.1632C>T (p.Asn544=)
c.1437C>T (p.Asn479=)
15g.50242485G>CCA392377120HDCc.1764C>G (p.Asn588Lys)
c.1665C>G (p.Asn555Lys)
n.1508C>G
c.1527C>G (p.Asn509Lys)
c.1332C>G (p.Asn444Lys)
c.1869C>G (p.Asn623Lys)
c.1770C>G (p.Asn590Lys)
c.1641C>G (p.Asn547Lys)
c.1632C>G (p.Asn544Lys)
c.1437C>G (p.Asn479Lys)
15g.50242485G>TCA392377121HDCc.1764C>A (p.Asn588Lys)
c.1665C>A (p.Asn555Lys)
n.1508C>A
c.1527C>A (p.Asn509Lys)
c.1332C>A (p.Asn444Lys)
c.1869C>A (p.Asn623Lys)
c.1770C>A (p.Asn590Lys)
c.1641C>A (p.Asn547Lys)
c.1632C>A (p.Asn544Lys)
c.1437C>A (p.Asn479Lys)
15g.50242486T>ACA392377122HDCc.1763A>T (p.Asn588Ile)
c.1664A>T (p.Asn555Ile)
n.1507A>T
c.1526A>T (p.Asn509Ile)
c.1331A>T (p.Asn444Ile)
c.1868A>T (p.Asn623Ile)
c.1769A>T (p.Asn590Ile)
c.1640A>T (p.Asn547Ile)
c.1631A>T (p.Asn544Ile)
c.1436A>T (p.Asn479Ile)
15g.50242486T>CCA392377123HDCc.1763A>G (p.Asn588Ser)
c.1664A>G (p.Asn555Ser)
n.1507A>G
c.1526A>G (p.Asn509Ser)
c.1331A>G (p.Asn444Ser)
c.1868A>G (p.Asn623Ser)
c.1769A>G (p.Asn590Ser)
c.1640A>G (p.Asn547Ser)
c.1631A>G (p.Asn544Ser)
c.1436A>G (p.Asn479Ser)
COSMIC
15g.50242486T>GCA392377124HDCc.1763A>C (p.Asn588Thr)
c.1664A>C (p.Asn555Thr)
n.1507A>C
c.1526A>C (p.Asn509Thr)
c.1331A>C (p.Asn444Thr)
c.1868A>C (p.Asn623Thr)
c.1769A>C (p.Asn590Thr)
c.1640A>C (p.Asn547Thr)
c.1631A>C (p.Asn544Thr)
c.1436A>C (p.Asn479Thr)
15g.50242487T>ACA392377125HDCc.1762A>T (p.Asn588Tyr)
c.1663A>T (p.Asn555Tyr)
n.1506A>T
c.1525A>T (p.Asn509Tyr)
c.1330A>T (p.Asn444Tyr)
c.1867A>T (p.Asn623Tyr)
c.1768A>T (p.Asn590Tyr)
c.1639A>T (p.Asn547Tyr)
c.1630A>T (p.Asn544Tyr)
c.1435A>T (p.Asn479Tyr)
15g.50242487T>CCA392377126HDCc.1762A>G (p.Asn588Asp)
c.1663A>G (p.Asn555Asp)
n.1506A>G
c.1525A>G (p.Asn509Asp)
c.1330A>G (p.Asn444Asp)
c.1867A>G (p.Asn623Asp)
c.1768A>G (p.Asn590Asp)
c.1639A>G (p.Asn547Asp)
c.1630A>G (p.Asn544Asp)
c.1435A>G (p.Asn479Asp)
15g.50242487T>GCA392377127HDCc.1762A>C (p.Asn588His)
c.1663A>C (p.Asn555His)
n.1506A>C
c.1525A>C (p.Asn509His)
c.1330A>C (p.Asn444His)
c.1867A>C (p.Asn623His)
c.1768A>C (p.Asn590His)
c.1639A>C (p.Asn547His)
c.1630A>C (p.Asn544His)
c.1435A>C (p.Asn479His)
15g.50242488G>ACA490314137HDCc.1761C>T (p.Cys587=)
c.1662C>T (p.Cys554=)
n.1505C>T
c.1524C>T (p.Cys508=)
c.1329C>T (p.Cys443=)
c.1866C>T (p.Cys622=)
c.1767C>T (p.Cys589=)
c.1638C>T (p.Cys546=)
c.1629C>T (p.Cys543=)
c.1434C>T (p.Cys478=)
15g.50242488G>CCA392377128HDCc.1761C>G (p.Cys587Trp)
c.1662C>G (p.Cys554Trp)
n.1505C>G
c.1524C>G (p.Cys508Trp)
c.1329C>G (p.Cys443Trp)
c.1866C>G (p.Cys622Trp)
c.1767C>G (p.Cys589Trp)
c.1638C>G (p.Cys546Trp)
c.1629C>G (p.Cys543Trp)
c.1434C>G (p.Cys478Trp)
15g.50242488G>TCA392377129HDCc.1761C>A (p.Cys587Ter)
c.1662C>A (p.Cys554Ter)
n.1505C>A
c.1524C>A (p.Cys508Ter)
c.1329C>A (p.Cys443Ter)
c.1866C>A (p.Cys622Ter)
c.1767C>A (p.Cys589Ter)
c.1638C>A (p.Cys546Ter)
c.1629C>A (p.Cys543Ter)
c.1434C>A (p.Cys478Ter)
15g.50242489C>ACA392377132HDCc.1760G>T (p.Cys587Phe)
c.1661G>T (p.Cys554Phe)
n.1504G>T
c.1523G>T (p.Cys508Phe)
c.1328G>T (p.Cys443Phe)
c.1865G>T (p.Cys622Phe)
c.1766G>T (p.Cys589Phe)
c.1637G>T (p.Cys546Phe)
c.1628G>T (p.Cys543Phe)
c.1433G>T (p.Cys478Phe)
COSMIC
15g.50242489C>GCA392377131HDCc.1760G>C (p.Cys587Ser)
c.1661G>C (p.Cys554Ser)
n.1504G>C
c.1523G>C (p.Cys508Ser)
c.1328G>C (p.Cys443Ser)
c.1865G>C (p.Cys622Ser)
c.1766G>C (p.Cys589Ser)
c.1637G>C (p.Cys546Ser)
c.1628G>C (p.Cys543Ser)
c.1433G>C (p.Cys478Ser)
15g.50242489C>TCA392377130HDCc.1760G>A (p.Cys587Tyr)
c.1661G>A (p.Cys554Tyr)
n.1504G>A
c.1523G>A (p.Cys508Tyr)
c.1328G>A (p.Cys443Tyr)
c.1865G>A (p.Cys622Tyr)
c.1766G>A (p.Cys589Tyr)
c.1637G>A (p.Cys546Tyr)
c.1628G>A (p.Cys543Tyr)
c.1433G>A (p.Cys478Tyr)
15g.50242490A>CCA392377133HDCc.1759T>G (p.Cys587Gly)
c.1660T>G (p.Cys554Gly)
n.1503T>G
c.1522T>G (p.Cys508Gly)
c.1327T>G (p.Cys443Gly)
c.1864T>G (p.Cys622Gly)
c.1765T>G (p.Cys589Gly)
c.1636T>G (p.Cys546Gly)
c.1627T>G (p.Cys543Gly)
c.1432T>G (p.Cys478Gly)
15g.50242490A>GCA392377134HDCc.1759T>C (p.Cys587Arg)
c.1660T>C (p.Cys554Arg)
n.1503T>C
c.1522T>C (p.Cys508Arg)
c.1327T>C (p.Cys443Arg)
c.1864T>C (p.Cys622Arg)
c.1765T>C (p.Cys589Arg)
c.1636T>C (p.Cys546Arg)
c.1627T>C (p.Cys543Arg)
c.1432T>C (p.Cys478Arg)
15g.50242490A>TCA392377135HDCc.1759T>A (p.Cys587Ser)
c.1660T>A (p.Cys554Ser)
n.1503T>A
c.1522T>A (p.Cys508Ser)
c.1327T>A (p.Cys443Ser)
c.1864T>A (p.Cys622Ser)
c.1765T>A (p.Cys589Ser)
c.1636T>A (p.Cys546Ser)
c.1627T>A (p.Cys543Ser)
c.1432T>A (p.Cys478Ser)
15g.50242491A>CCA392377136HDCc.1758T>G (p.Ser586Arg)
c.1659T>G (p.Ser553Arg)
n.1502T>G
c.1521T>G (p.Ser507Arg)
c.1326T>G (p.Ser442Arg)
c.1863T>G (p.Ser621Arg)
c.1764T>G (p.Ser588Arg)
c.1635T>G (p.Ser545Arg)
c.1626T>G (p.Ser542Arg)
c.1431T>G (p.Ser477Arg)
15g.50242491A>GCA490314142HDCc.1758T>C (p.Ser586=)
c.1659T>C (p.Ser553=)
n.1502T>C
c.1521T>C (p.Ser507=)
c.1326T>C (p.Ser442=)
c.1863T>C (p.Ser621=)
c.1764T>C (p.Ser588=)
c.1635T>C (p.Ser545=)
c.1626T>C (p.Ser542=)
c.1431T>C (p.Ser477=)
15g.50242491A>TCA392377137HDCc.1758T>A (p.Ser586Arg)
c.1659T>A (p.Ser553Arg)
n.1502T>A
c.1521T>A (p.Ser507Arg)
c.1326T>A (p.Ser442Arg)
c.1863T>A (p.Ser621Arg)
c.1764T>A (p.Ser588Arg)
c.1635T>A (p.Ser545Arg)
c.1626T>A (p.Ser542Arg)
c.1431T>A (p.Ser477Arg)
15g.50242492C>ACA392377138HDCc.1757G>T (p.Ser586Ile)
c.1658G>T (p.Ser553Ile)
n.1501G>T
c.1520G>T (p.Ser507Ile)
c.1325G>T (p.Ser442Ile)
c.1862G>T (p.Ser621Ile)
c.1763G>T (p.Ser588Ile)
c.1634G>T (p.Ser545Ile)
c.1625G>T (p.Ser542Ile)
c.1430G>T (p.Ser477Ile)
15g.50242492C>GCA392377139HDCc.1757G>C (p.Ser586Thr)
c.1658G>C (p.Ser553Thr)
n.1501G>C
c.1520G>C (p.Ser507Thr)
c.1325G>C (p.Ser442Thr)
c.1862G>C (p.Ser621Thr)
c.1763G>C (p.Ser588Thr)
c.1634G>C (p.Ser545Thr)
c.1625G>C (p.Ser542Thr)
c.1430G>C (p.Ser477Thr)
15g.50242492C>TCA392377140HDCc.1757G>A (p.Ser586Asn)
c.1658G>A (p.Ser553Asn)
n.1501G>A
c.1520G>A (p.Ser507Asn)
c.1325G>A (p.Ser442Asn)
c.1862G>A (p.Ser621Asn)
c.1763G>A (p.Ser588Asn)
c.1634G>A (p.Ser545Asn)
c.1625G>A (p.Ser542Asn)
c.1430G>A (p.Ser477Asn)
15g.50242493T>ACA392377141HDCc.1756A>T (p.Ser586Cys)
c.1657A>T (p.Ser553Cys)
n.1500A>T
c.1519A>T (p.Ser507Cys)
c.1324A>T (p.Ser442Cys)
c.1861A>T (p.Ser621Cys)
c.1762A>T (p.Ser588Cys)
c.1633A>T (p.Ser545Cys)
c.1624A>T (p.Ser542Cys)
c.1429A>T (p.Ser477Cys)
15g.50242493T>CCA392377142HDCc.1756A>G (p.Ser586Gly)
c.1657A>G (p.Ser553Gly)
n.1500A>G
c.1519A>G (p.Ser507Gly)
c.1324A>G (p.Ser442Gly)
c.1861A>G (p.Ser621Gly)
c.1762A>G (p.Ser588Gly)
c.1633A>G (p.Ser545Gly)
c.1624A>G (p.Ser542Gly)
c.1429A>G (p.Ser477Gly)
15g.50242493T>GCA392377143HDCc.1756A>C (p.Ser586Arg)
c.1657A>C (p.Ser553Arg)
n.1500A>C
c.1519A>C (p.Ser507Arg)
c.1324A>C (p.Ser442Arg)
c.1861A>C (p.Ser621Arg)
c.1762A>C (p.Ser588Arg)
c.1633A>C (p.Ser545Arg)
c.1624A>C (p.Ser542Arg)
c.1429A>C (p.Ser477Arg)
gnomAD v4
15g.50242494G>ACA490314146HDCc.1755C>T (p.Leu585=)
c.1656C>T (p.Leu552=)
n.1499C>T
c.1518C>T (p.Leu506=)
c.1323C>T (p.Leu441=)
c.1860C>T (p.Leu620=)
c.1761C>T (p.Leu587=)
c.1632C>T (p.Leu544=)
c.1623C>T (p.Leu541=)
c.1428C>T (p.Leu476=)
dbSNP gnomAD v3 gnomAD v4
15g.50242494G>CCA490314147HDCc.1755C>G (p.Leu585=)
c.1656C>G (p.Leu552=)
n.1499C>G
c.1518C>G (p.Leu506=)
c.1323C>G (p.Leu441=)
c.1860C>G (p.Leu620=)
c.1761C>G (p.Leu587=)
c.1632C>G (p.Leu544=)
c.1623C>G (p.Leu541=)
c.1428C>G (p.Leu476=)
15g.50242494G=CA2176326613HDCc.1755C= (p.Leu585=)
c.1656C= (p.Leu552=)
n.1499C=
c.1518C= (p.Leu506=)
c.1323C= (p.Leu441=)
c.1860C= (p.Leu620=)
c.1761C= (p.Leu587=)
c.1632C= (p.Leu544=)
c.1623C= (p.Leu541=)
c.1428C= (p.Leu476=)
15g.50242494G>TCA490314149HDCc.1755C>A (p.Leu585=)
c.1656C>A (p.Leu552=)
n.1499C>A
c.1518C>A (p.Leu506=)
c.1323C>A (p.Leu441=)
c.1860C>A (p.Leu620=)
c.1761C>A (p.Leu587=)
c.1632C>A (p.Leu544=)
c.1623C>A (p.Leu541=)
c.1428C>A (p.Leu476=)
15g.50242495A>CCA392377146HDCc.1754T>G (p.Leu585Arg)
c.1655T>G (p.Leu552Arg)
n.1498T>G
c.1517T>G (p.Leu506Arg)
c.1322T>G (p.Leu441Arg)
c.1859T>G (p.Leu620Arg)
c.1760T>G (p.Leu587Arg)
c.1631T>G (p.Leu544Arg)
c.1622T>G (p.Leu541Arg)
c.1427T>G (p.Leu476Arg)
15g.50242495A>GCA392377145HDCc.1754T>C (p.Leu585Pro)
c.1655T>C (p.Leu552Pro)
n.1498T>C
c.1517T>C (p.Leu506Pro)
c.1322T>C (p.Leu441Pro)
c.1859T>C (p.Leu620Pro)
c.1760T>C (p.Leu587Pro)
c.1631T>C (p.Leu544Pro)
c.1622T>C (p.Leu541Pro)
c.1427T>C (p.Leu476Pro)
15g.50242495A>TCA392377144HDCc.1754T>A (p.Leu585His)
c.1655T>A (p.Leu552His)
n.1498T>A
c.1517T>A (p.Leu506His)
c.1322T>A (p.Leu441His)
c.1859T>A (p.Leu620His)
c.1760T>A (p.Leu587His)
c.1631T>A (p.Leu544His)
c.1622T>A (p.Leu541His)
c.1427T>A (p.Leu476His)
15g.50242496G>ACA392377147HDCc.1753C>T (p.Leu585Phe)
c.1654C>T (p.Leu552Phe)
n.1497C>T
c.1516C>T (p.Leu506Phe)
c.1321C>T (p.Leu441Phe)
c.1858C>T (p.Leu620Phe)
c.1759C>T (p.Leu587Phe)
c.1630C>T (p.Leu544Phe)
c.1621C>T (p.Leu541Phe)
c.1426C>T (p.Leu476Phe)
15g.50242496G>CCA7554499HDCc.1753C>G (p.Leu585Val)
c.1654C>G (p.Leu552Val)
n.1497C>G
c.1516C>G (p.Leu506Val)
c.1321C>G (p.Leu441Val)
c.1858C>G (p.Leu620Val)
c.1759C>G (p.Leu587Val)
c.1630C>G (p.Leu544Val)
c.1621C>G (p.Leu541Val)
c.1426C>G (p.Leu476Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242496G=CA2176326614HDCc.1753C= (p.Leu585=)
c.1654C= (p.Leu552=)
n.1497C=
c.1516C= (p.Leu506=)
c.1321C= (p.Leu441=)
c.1858C= (p.Leu620=)
c.1759C= (p.Leu587=)
c.1630C= (p.Leu544=)
c.1621C= (p.Leu541=)
c.1426C= (p.Leu476=)
15g.50242496G>TCA392377148HDCc.1753C>A (p.Leu585Ile)
c.1654C>A (p.Leu552Ile)
n.1497C>A
c.1516C>A (p.Leu506Ile)
c.1321C>A (p.Leu441Ile)
c.1858C>A (p.Leu620Ile)
c.1759C>A (p.Leu587Ile)
c.1630C>A (p.Leu544Ile)
c.1621C>A (p.Leu541Ile)
c.1426C>A (p.Leu476Ile)
15g.50242497G>ACA7554500HDCc.1752C>T (p.Ser584=)
c.1653C>T (p.Ser551=)
n.1496C>T
c.1515C>T (p.Ser505=)
c.1320C>T (p.Ser440=)
c.1857C>T (p.Ser619=)
c.1758C>T (p.Ser586=)
c.1629C>T (p.Ser543=)
c.1620C>T (p.Ser540=)
c.1425C>T (p.Ser475=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.50242497G>CCA490314154HDCc.1752C>G (p.Ser584=)
c.1653C>G (p.Ser551=)
n.1496C>G
c.1515C>G (p.Ser505=)
c.1320C>G (p.Ser440=)
c.1857C>G (p.Ser619=)
c.1758C>G (p.Ser586=)
c.1629C>G (p.Ser543=)
c.1620C>G (p.Ser540=)
c.1425C>G (p.Ser475=)
15g.50242497G=CA2176326615HDCc.1752C= (p.Ser584=)
c.1653C= (p.Ser551=)
n.1496C=
c.1515C= (p.Ser505=)
c.1320C= (p.Ser440=)
c.1857C= (p.Ser619=)
c.1758C= (p.Ser586=)
c.1629C= (p.Ser543=)
c.1620C= (p.Ser540=)
c.1425C= (p.Ser475=)
15g.50242497G>TCA490314155HDCc.1752C>A (p.Ser584=)
c.1653C>A (p.Ser551=)
n.1496C>A
c.1515C>A (p.Ser505=)
c.1320C>A (p.Ser440=)
c.1857C>A (p.Ser619=)
c.1758C>A (p.Ser586=)
c.1629C>A (p.Ser543=)
c.1620C>A (p.Ser540=)
c.1425C>A (p.Ser475=)
15g.50242498G>ACA392377149HDCc.1751C>T (p.Ser584Phe)
c.1652C>T (p.Ser551Phe)
n.1495C>T
c.1514C>T (p.Ser505Phe)
c.1319C>T (p.Ser440Phe)
c.1856C>T (p.Ser619Phe)
c.1757C>T (p.Ser586Phe)
c.1628C>T (p.Ser543Phe)
c.1619C>T (p.Ser540Phe)
c.1424C>T (p.Ser475Phe)
gnomAD v4
15g.50242498G>CCA392377150HDCc.1751C>G (p.Ser584Cys)
c.1652C>G (p.Ser551Cys)
n.1495C>G
c.1514C>G (p.Ser505Cys)
c.1319C>G (p.Ser440Cys)
c.1856C>G (p.Ser619Cys)
c.1757C>G (p.Ser586Cys)
c.1628C>G (p.Ser543Cys)
c.1619C>G (p.Ser540Cys)
c.1424C>G (p.Ser475Cys)
15g.50242498G>TCA392377151HDCc.1751C>A (p.Ser584Tyr)
c.1652C>A (p.Ser551Tyr)
n.1495C>A
c.1514C>A (p.Ser505Tyr)
c.1319C>A (p.Ser440Tyr)
c.1856C>A (p.Ser619Tyr)
c.1757C>A (p.Ser586Tyr)
c.1628C>A (p.Ser543Tyr)
c.1619C>A (p.Ser540Tyr)
c.1424C>A (p.Ser475Tyr)
15g.50242499A>CCA392377152HDCc.1750T>G (p.Ser584Ala)
c.1651T>G (p.Ser551Ala)
n.1494T>G
c.1513T>G (p.Ser505Ala)
c.1318T>G (p.Ser440Ala)
c.1855T>G (p.Ser619Ala)
c.1756T>G (p.Ser586Ala)
c.1627T>G (p.Ser543Ala)
c.1618T>G (p.Ser540Ala)
c.1423T>G (p.Ser475Ala)
15g.50242499A>GCA392377153HDCc.1750T>C (p.Ser584Pro)
c.1651T>C (p.Ser551Pro)
n.1494T>C
c.1513T>C (p.Ser505Pro)
c.1318T>C (p.Ser440Pro)
c.1855T>C (p.Ser619Pro)
c.1756T>C (p.Ser586Pro)
c.1627T>C (p.Ser543Pro)
c.1618T>C (p.Ser540Pro)
c.1423T>C (p.Ser475Pro)
15g.50242499A>TCA392377154HDCc.1750T>A (p.Ser584Thr)
c.1651T>A (p.Ser551Thr)
n.1494T>A
c.1513T>A (p.Ser505Thr)
c.1318T>A (p.Ser440Thr)
c.1855T>A (p.Ser619Thr)
c.1756T>A (p.Ser586Thr)
c.1627T>A (p.Ser543Thr)
c.1618T>A (p.Ser540Thr)
c.1423T>A (p.Ser475Thr)
15g.50242500G>ACA490314162HDCc.1749C>T (p.Arg583=)
c.1650C>T (p.Arg550=)
n.1493C>T
c.1512C>T (p.Arg504=)
c.1317C>T (p.Arg439=)
c.1854C>T (p.Arg618=)
c.1755C>T (p.Arg585=)
c.1626C>T (p.Arg542=)
c.1617C>T (p.Arg539=)
c.1422C>T (p.Arg474=)
15g.50242500G>CCA490314160HDCc.1749C>G (p.Arg583=)
c.1650C>G (p.Arg550=)
n.1493C>G
c.1512C>G (p.Arg504=)
c.1317C>G (p.Arg439=)
c.1854C>G (p.Arg618=)
c.1755C>G (p.Arg585=)
c.1626C>G (p.Arg542=)
c.1617C>G (p.Arg539=)
c.1422C>G (p.Arg474=)
15g.50242500G>TCA490314161HDCc.1749C>A (p.Arg583=)
c.1650C>A (p.Arg550=)
n.1493C>A
c.1512C>A (p.Arg504=)
c.1317C>A (p.Arg439=)
c.1854C>A (p.Arg618=)
c.1755C>A (p.Arg585=)
c.1626C>A (p.Arg542=)
c.1617C>A (p.Arg539=)
c.1422C>A (p.Arg474=)
15g.50242501C>ACA7554502HDCc.1748G>T (p.Arg583Leu)
c.1649G>T (p.Arg550Leu)
n.1492G>T
c.1511G>T (p.Arg504Leu)
c.1316G>T (p.Arg439Leu)
c.1853G>T (p.Arg618Leu)
c.1754G>T (p.Arg585Leu)
c.1625G>T (p.Arg542Leu)
c.1616G>T (p.Arg539Leu)
c.1421G>T (p.Arg474Leu)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.50242501C=CA2176326616HDCc.1748G= (p.Arg583=)
c.1649G= (p.Arg550=)
n.1492G=
c.1511G= (p.Arg504=)
c.1316G= (p.Arg439=)
c.1853G= (p.Arg618=)
c.1754G= (p.Arg585=)
c.1625G= (p.Arg542=)
c.1616G= (p.Arg539=)
c.1421G= (p.Arg474=)
15g.50242501C>GCA392377155HDCc.1748G>C (p.Arg583Pro)
c.1649G>C (p.Arg550Pro)
n.1492G>C
c.1511G>C (p.Arg504Pro)
c.1316G>C (p.Arg439Pro)
c.1853G>C (p.Arg618Pro)
c.1754G>C (p.Arg585Pro)
c.1625G>C (p.Arg542Pro)
c.1616G>C (p.Arg539Pro)
c.1421G>C (p.Arg474Pro)
15g.50242501C>TCA7554501HDCc.1748G>A (p.Arg583His)
c.1649G>A (p.Arg550His)
n.1492G>A
c.1511G>A (p.Arg504His)
c.1316G>A (p.Arg439His)
c.1853G>A (p.Arg618His)
c.1754G>A (p.Arg585His)
c.1625G>A (p.Arg542His)
c.1616G>A (p.Arg539His)
c.1421G>A (p.Arg474His)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.50242502G>ACA270413950HDCc.1747C>T (p.Arg583Cys)
c.1648C>T (p.Arg550Cys)
n.1491C>T
c.1510C>T (p.Arg504Cys)
c.1315C>T (p.Arg439Cys)
c.1852C>T (p.Arg618Cys)
c.1753C>T (p.Arg585Cys)
c.1624C>T (p.Arg542Cys)
c.1615C>T (p.Arg539Cys)
c.1420C>T (p.Arg474Cys)
dbSNP gnomAD v2 gnomAD v4
15g.50242502G>CCA392377157HDCc.1747C>G (p.Arg583Gly)
c.1648C>G (p.Arg550Gly)
n.1491C>G
c.1510C>G (p.Arg504Gly)
c.1315C>G (p.Arg439Gly)
c.1852C>G (p.Arg618Gly)
c.1753C>G (p.Arg585Gly)
c.1624C>G (p.Arg542Gly)
c.1615C>G (p.Arg539Gly)
c.1420C>G (p.Arg474Gly)
gnomAD v4
15g.50242502G=CA2176326617HDCc.1747C= (p.Arg583=)
c.1648C= (p.Arg550=)
n.1491C=
c.1510C= (p.Arg504=)
c.1315C= (p.Arg439=)
c.1852C= (p.Arg618=)
c.1753C= (p.Arg585=)
c.1624C= (p.Arg542=)
c.1615C= (p.Arg539=)
c.1420C= (p.Arg474=)
15g.50242502G>TCA392377156HDCc.1747C>A (p.Arg583Ser)
c.1648C>A (p.Arg550Ser)
n.1491C>A
c.1510C>A (p.Arg504Ser)
c.1315C>A (p.Arg439Ser)
c.1852C>A (p.Arg618Ser)
c.1753C>A (p.Arg585Ser)
c.1624C>A (p.Arg542Ser)
c.1615C>A (p.Arg539Ser)
c.1420C>A (p.Arg474Ser)
dbSNP
15g.50242503C>ACA490314165HDCc.1746G>T (p.Val582=)
c.1647G>T (p.Val549=)
n.1490G>T
c.1509G>T (p.Val503=)
c.1314G>T (p.Val438=)
c.1851G>T (p.Val617=)
c.1752G>T (p.Val584=)
c.1623G>T (p.Val541=)
c.1614G>T (p.Val538=)
c.1419G>T (p.Val473=)
15g.50242503C>GCA490314166HDCc.1746G>C (p.Val582=)
c.1647G>C (p.Val549=)
n.1490G>C
c.1509G>C (p.Val503=)
c.1314G>C (p.Val438=)
c.1851G>C (p.Val617=)
c.1752G>C (p.Val584=)
c.1623G>C (p.Val541=)
c.1614G>C (p.Val538=)
c.1419G>C (p.Val473=)
15g.50242503C>TCA490314167HDCc.1746G>A (p.Val582=)
c.1647G>A (p.Val549=)
n.1490G>A
c.1509G>A (p.Val503=)
c.1314G>A (p.Val438=)
c.1851G>A (p.Val617=)
c.1752G>A (p.Val584=)
c.1623G>A (p.Val541=)
c.1614G>A (p.Val538=)
c.1419G>A (p.Val473=)
15g.50242504A>CCA392377159HDCc.1745T>G (p.Val582Gly)
c.1646T>G (p.Val549Gly)
n.1489T>G
c.1508T>G (p.Val503Gly)
c.1313T>G (p.Val438Gly)
c.1850T>G (p.Val617Gly)
c.1751T>G (p.Val584Gly)
c.1622T>G (p.Val541Gly)
c.1613T>G (p.Val538Gly)
c.1418T>G (p.Val473Gly)
15g.50242504A>GCA392377158HDCc.1745T>C (p.Val582Ala)
c.1646T>C (p.Val549Ala)
n.1489T>C
c.1508T>C (p.Val503Ala)
c.1313T>C (p.Val438Ala)
c.1850T>C (p.Val617Ala)
c.1751T>C (p.Val584Ala)
c.1622T>C (p.Val541Ala)
c.1613T>C (p.Val538Ala)
c.1418T>C (p.Val473Ala)
gnomAD v4
15g.50242504A>TCA392377160HDCc.1745T>A (p.Val582Glu)
c.1646T>A (p.Val549Glu)
n.1489T>A
c.1508T>A (p.Val503Glu)
c.1313T>A (p.Val438Glu)
c.1850T>A (p.Val617Glu)
c.1751T>A (p.Val584Glu)
c.1622T>A (p.Val541Glu)
c.1613T>A (p.Val538Glu)
c.1418T>A (p.Val473Glu)
15g.50242505C>ACA392377161HDCc.1744G>T (p.Val582Leu)
c.1645G>T (p.Val549Leu)
n.1488G>T
c.1507G>T (p.Val503Leu)
c.1312G>T (p.Val438Leu)
c.1849G>T (p.Val617Leu)
c.1750G>T (p.Val584Leu)
c.1621G>T (p.Val541Leu)
c.1612G>T (p.Val538Leu)
c.1417G>T (p.Val473Leu)
dbSNP
15g.50242505C=CA2176326618HDCc.1744G= (p.Val582=)
c.1645G= (p.Val549=)
n.1488G=
c.1507G= (p.Val503=)
c.1312G= (p.Val438=)
c.1849G= (p.Val617=)
c.1750G= (p.Val584=)
c.1621G= (p.Val541=)
c.1612G= (p.Val538=)
c.1417G= (p.Val473=)
15g.50242505C>GCA392377162HDCc.1744G>C (p.Val582Leu)
c.1645G>C (p.Val549Leu)
n.1488G>C
c.1507G>C (p.Val503Leu)
c.1312G>C (p.Val438Leu)
c.1849G>C (p.Val617Leu)
c.1750G>C (p.Val584Leu)
c.1621G>C (p.Val541Leu)
c.1612G>C (p.Val538Leu)
c.1417G>C (p.Val473Leu)
15g.50242505C>TCA392377163HDCc.1744G>A (p.Val582Met)
c.1645G>A (p.Val549Met)
n.1488G>A
c.1507G>A (p.Val503Met)
c.1312G>A (p.Val438Met)
c.1849G>A (p.Val617Met)
c.1750G>A (p.Val584Met)
c.1621G>A (p.Val541Met)
c.1612G>A (p.Val538Met)
c.1417G>A (p.Val473Met)
dbSNP gnomAD v2 gnomAD v4
15g.50242506C>ACA490314168HDCc.1743G>T (p.Thr581=)
c.1644G>T (p.Thr548=)
n.1487G>T
c.1506G>T (p.Thr502=)
c.1311G>T (p.Thr437=)
c.1848G>T (p.Thr616=)
c.1749G>T (p.Thr583=)
c.1620G>T (p.Thr540=)
c.1611G>T (p.Thr537=)
c.1416G>T (p.Thr472=)
15g.50242506C=CA2176326619HDCc.1743G= (p.Thr581=)
c.1644G= (p.Thr548=)
n.1487G=
c.1506G= (p.Thr502=)
c.1311G= (p.Thr437=)
c.1848G= (p.Thr616=)
c.1749G= (p.Thr583=)
c.1620G= (p.Thr540=)
c.1611G= (p.Thr537=)
c.1416G= (p.Thr472=)
15g.50242506C>GCA490314169HDCc.1743G>C (p.Thr581=)
c.1644G>C (p.Thr548=)
n.1487G>C
c.1506G>C (p.Thr502=)
c.1311G>C (p.Thr437=)
c.1848G>C (p.Thr616=)
c.1749G>C (p.Thr583=)
c.1620G>C (p.Thr540=)
c.1611G>C (p.Thr537=)
c.1416G>C (p.Thr472=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.50242506C>TCA7554503HDCc.1743G>A (p.Thr581=)
c.1644G>A (p.Thr548=)
n.1487G>A
c.1506G>A (p.Thr502=)
c.1311G>A (p.Thr437=)
c.1848G>A (p.Thr616=)
c.1749G>A (p.Thr583=)
c.1620G>A (p.Thr540=)
c.1611G>A (p.Thr537=)
c.1416G>A (p.Thr472=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242507G>ACA7554504HDCc.1742C>T (p.Thr581Met)
c.1643C>T (p.Thr548Met)
n.1486C>T
c.1505C>T (p.Thr502Met)
c.1310C>T (p.Thr437Met)
c.1847C>T (p.Thr616Met)
c.1748C>T (p.Thr583Met)
c.1619C>T (p.Thr540Met)
c.1610C>T (p.Thr537Met)
c.1415C>T (p.Thr472Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242507G>CCA392377164HDCc.1742C>G (p.Thr581Arg)
c.1643C>G (p.Thr548Arg)
n.1486C>G
c.1505C>G (p.Thr502Arg)
c.1310C>G (p.Thr437Arg)
c.1847C>G (p.Thr616Arg)
c.1748C>G (p.Thr583Arg)
c.1619C>G (p.Thr540Arg)
c.1610C>G (p.Thr537Arg)
c.1415C>G (p.Thr472Arg)
15g.50242507G=CA2176326620HDCc.1742C= (p.Thr581=)
c.1643C= (p.Thr548=)
n.1486C=
c.1505C= (p.Thr502=)
c.1310C= (p.Thr437=)
c.1847C= (p.Thr616=)
c.1748C= (p.Thr583=)
c.1619C= (p.Thr540=)
c.1610C= (p.Thr537=)
c.1415C= (p.Thr472=)
15g.50242507G>TCA7554506HDCc.1742C>A (p.Thr581Lys)
c.1643C>A (p.Thr548Lys)
n.1486C>A
c.1505C>A (p.Thr502Lys)
c.1310C>A (p.Thr437Lys)
c.1847C>A (p.Thr616Lys)
c.1748C>A (p.Thr583Lys)
c.1619C>A (p.Thr540Lys)
c.1610C>A (p.Thr537Lys)
c.1415C>A (p.Thr472Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242507_50242510delinsGTCTCA2176326621HDCc.1739_1742delinsAGAC (p.Lys580=)
c.1640_1643delinsAGAC (p.Lys547=)
n.1483_1486delinsAGAC
c.1502_1505delinsAGAC (p.Lys501=)
c.1307_1310delinsAGAC (p.Lys436=)
c.1844_1847delinsAGAC (p.Lys615=)
c.1745_1748delinsAGAC (p.Lys582=)
c.1616_1619delinsAGAC (p.Lys539=)
c.1607_1610delinsAGAC (p.Lys536=)
c.1412_1415delinsAGAC (p.Lys471=)
15g.50242508T>ACA392377165HDCc.1741A>T (p.Thr581Ser)
c.1642A>T (p.Thr548Ser)
n.1485A>T
c.1504A>T (p.Thr502Ser)
c.1309A>T (p.Thr437Ser)
c.1846A>T (p.Thr616Ser)
c.1747A>T (p.Thr583Ser)
c.1618A>T (p.Thr540Ser)
c.1609A>T (p.Thr537Ser)
c.1414A>T (p.Thr472Ser)
15g.50242508T>CCA392377166HDCc.1741A>G (p.Thr581Ala)
c.1642A>G (p.Thr548Ala)
n.1485A>G
c.1504A>G (p.Thr502Ala)
c.1309A>G (p.Thr437Ala)
c.1846A>G (p.Thr616Ala)
c.1747A>G (p.Thr583Ala)
c.1618A>G (p.Thr540Ala)
c.1609A>G (p.Thr537Ala)
c.1414A>G (p.Thr472Ala)
15g.50242508T>GCA392377167HDCc.1741A>C (p.Thr581Pro)
c.1642A>C (p.Thr548Pro)
n.1485A>C
c.1504A>C (p.Thr502Pro)
c.1309A>C (p.Thr437Pro)
c.1846A>C (p.Thr616Pro)
c.1747A>C (p.Thr583Pro)
c.1618A>C (p.Thr540Pro)
c.1609A>C (p.Thr537Pro)
c.1414A>C (p.Thr472Pro)
15g.50242515_50242517dupCA2176326622HDCc.1739_1741dup (p.Lys580_Thr581insLys)
c.1640_1642dup (p.Lys547_Thr548insLys)
n.1483_1485dup
c.1502_1504dup (p.Lys501_Thr502insLys)
c.1307_1309dup (p.Lys436_Thr437insLys)
c.1844_1846dup (p.Lys615_Thr616insLys)
c.1745_1747dup (p.Lys582_Thr583insLys)
c.1616_1618dup (p.Lys539_Thr540insLys)
c.1607_1609dup (p.Lys536_Thr537insLys)
c.1412_1414dup (p.Lys471_Thr472insLys)
dbSNP gnomAD v4
15g.50242515_50242517delCA7554505HDCc.1739_1741del (p.Lys580del)
c.1640_1642del (p.Lys547del)
n.1483_1485del
c.1502_1504del (p.Lys501del)
c.1307_1309del (p.Lys436del)
c.1844_1846del (p.Lys615del)
c.1745_1747del (p.Lys582del)
c.1616_1618del (p.Lys539del)
c.1607_1609del (p.Lys536del)
c.1412_1414del (p.Lys471del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242509C>ACA392377168HDCc.1740G>T (p.Lys580Asn)
c.1641G>T (p.Lys547Asn)
n.1484G>T
c.1503G>T (p.Lys501Asn)
c.1308G>T (p.Lys436Asn)
c.1845G>T (p.Lys615Asn)
c.1746G>T (p.Lys582Asn)
c.1617G>T (p.Lys539Asn)
c.1608G>T (p.Lys536Asn)
c.1413G>T (p.Lys471Asn)
15g.50242509C=CA2176326623HDCc.1740G= (p.Lys580=)
c.1641G= (p.Lys547=)
n.1484G=
c.1503G= (p.Lys501=)
c.1308G= (p.Lys436=)
c.1845G= (p.Lys615=)
c.1746G= (p.Lys582=)
c.1617G= (p.Lys539=)
c.1608G= (p.Lys536=)
c.1413G= (p.Lys471=)
15g.50242509C>GCA392377169HDCc.1740G>C (p.Lys580Asn)
c.1641G>C (p.Lys547Asn)
n.1484G>C
c.1503G>C (p.Lys501Asn)
c.1308G>C (p.Lys436Asn)
c.1845G>C (p.Lys615Asn)
c.1746G>C (p.Lys582Asn)
c.1617G>C (p.Lys539Asn)
c.1608G>C (p.Lys536Asn)
c.1413G>C (p.Lys471Asn)
15g.50242509C>TCA490314177HDCc.1740G>A (p.Lys580=)
c.1641G>A (p.Lys547=)
n.1484G>A
c.1503G>A (p.Lys501=)
c.1308G>A (p.Lys436=)
c.1845G>A (p.Lys615=)
c.1746G>A (p.Lys582=)
c.1617G>A (p.Lys539=)
c.1608G>A (p.Lys536=)
c.1413G>A (p.Lys471=)
dbSNP gnomAD v3 gnomAD v4
15g.50242510T>ACA392377170HDCc.1739A>T (p.Lys580Met)
c.1640A>T (p.Lys547Met)
n.1483A>T
c.1502A>T (p.Lys501Met)
c.1307A>T (p.Lys436Met)
c.1844A>T (p.Lys615Met)
c.1745A>T (p.Lys582Met)
c.1616A>T (p.Lys539Met)
c.1607A>T (p.Lys536Met)
c.1412A>T (p.Lys471Met)
15g.50242510T>CCA392377171HDCc.1739A>G (p.Lys580Arg)
c.1640A>G (p.Lys547Arg)
n.1483A>G
c.1502A>G (p.Lys501Arg)
c.1307A>G (p.Lys436Arg)
c.1844A>G (p.Lys615Arg)
c.1745A>G (p.Lys582Arg)
c.1616A>G (p.Lys539Arg)
c.1607A>G (p.Lys536Arg)
c.1412A>G (p.Lys471Arg)
15g.50242510T>GCA7554507HDCc.1739A>C (p.Lys580Thr)
c.1640A>C (p.Lys547Thr)
n.1483A>C
c.1502A>C (p.Lys501Thr)
c.1307A>C (p.Lys436Thr)
c.1844A>C (p.Lys615Thr)
c.1745A>C (p.Lys582Thr)
c.1616A>C (p.Lys539Thr)
c.1607A>C (p.Lys536Thr)
c.1412A>C (p.Lys471Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242510T=CA2176326624HDCc.1739A= (p.Lys580=)
c.1640A= (p.Lys547=)
n.1483A=
c.1502A= (p.Lys501=)
c.1307A= (p.Lys436=)
c.1844A= (p.Lys615=)
c.1745A= (p.Lys582=)
c.1616A= (p.Lys539=)
c.1607A= (p.Lys536=)
c.1412A= (p.Lys471=)
15g.50242511delCA2628396369HDCc.1739del (p.Lys580ArgfsTer13)
c.1640del (p.Lys547ArgfsTer13)
n.1483del
c.1502del (p.Lys501ArgfsTer13)
c.1307del (p.Lys436ArgfsTer13)
c.1844del (p.Lys615ArgfsTer13)
c.1745del (p.Lys582ArgfsTer13)
c.1616del (p.Lys539ArgfsTer13)
c.1607del (p.Lys536ArgfsTer13)
c.1412del (p.Lys471ArgfsTer13)
gnomAD v4
15g.50242511T>ACA392377172HDCc.1738A>T (p.Lys580Ter)
c.1639A>T (p.Lys547Ter)
n.1482A>T
c.1501A>T (p.Lys501Ter)
c.1306A>T (p.Lys436Ter)
c.1843A>T (p.Lys615Ter)
c.1744A>T (p.Lys582Ter)
c.1615A>T (p.Lys539Ter)
c.1606A>T (p.Lys536Ter)
c.1411A>T (p.Lys471Ter)
15g.50242511T>CCA392377173HDCc.1738A>G (p.Lys580Glu)
c.1639A>G (p.Lys547Glu)
n.1482A>G
c.1501A>G (p.Lys501Glu)
c.1306A>G (p.Lys436Glu)
c.1843A>G (p.Lys615Glu)
c.1744A>G (p.Lys582Glu)
c.1615A>G (p.Lys539Glu)
c.1606A>G (p.Lys536Glu)
c.1411A>G (p.Lys471Glu)
gnomAD v4
15g.50242511T>GCA392377174HDCc.1738A>C (p.Lys580Gln)
c.1639A>C (p.Lys547Gln)
n.1482A>C
c.1501A>C (p.Lys501Gln)
c.1306A>C (p.Lys436Gln)
c.1843A>C (p.Lys615Gln)
c.1744A>C (p.Lys582Gln)
c.1615A>C (p.Lys539Gln)
c.1606A>C (p.Lys536Gln)
c.1411A>C (p.Lys471Gln)
15g.50242512C>ACA392377175HDCc.1737G>T (p.Lys579Asn)
c.1638G>T (p.Lys546Asn)
n.1481G>T
c.1500G>T (p.Lys500Asn)
c.1305G>T (p.Lys435Asn)
c.1842G>T (p.Lys614Asn)
c.1743G>T (p.Lys581Asn)
c.1614G>T (p.Lys538Asn)
c.1605G>T (p.Lys535Asn)
c.1410G>T (p.Lys470Asn)
15g.50242512C>GCA392377176HDCc.1737G>C (p.Lys579Asn)
c.1638G>C (p.Lys546Asn)
n.1481G>C
c.1500G>C (p.Lys500Asn)
c.1305G>C (p.Lys435Asn)
c.1842G>C (p.Lys614Asn)
c.1743G>C (p.Lys581Asn)
c.1614G>C (p.Lys538Asn)
c.1605G>C (p.Lys535Asn)
c.1410G>C (p.Lys470Asn)
15g.50242512C>TCA490314179HDCc.1737G>A (p.Lys579=)
c.1638G>A (p.Lys546=)
n.1481G>A
c.1500G>A (p.Lys500=)
c.1305G>A (p.Lys435=)
c.1842G>A (p.Lys614=)
c.1743G>A (p.Lys581=)
c.1614G>A (p.Lys538=)
c.1605G>A (p.Lys535=)
c.1410G>A (p.Lys470=)
15g.50242513T>ACA392377177HDCc.1736A>T (p.Lys579Met)
c.1637A>T (p.Lys546Met)
n.1480A>T
c.1499A>T (p.Lys500Met)
c.1304A>T (p.Lys435Met)
c.1841A>T (p.Lys614Met)
c.1742A>T (p.Lys581Met)
c.1613A>T (p.Lys538Met)
c.1604A>T (p.Lys535Met)
c.1409A>T (p.Lys470Met)
15g.50242513T>CCA392377178HDCc.1736A>G (p.Lys579Arg)
c.1637A>G (p.Lys546Arg)
n.1480A>G
c.1499A>G (p.Lys500Arg)
c.1304A>G (p.Lys435Arg)
c.1841A>G (p.Lys614Arg)
c.1742A>G (p.Lys581Arg)
c.1613A>G (p.Lys538Arg)
c.1604A>G (p.Lys535Arg)
c.1409A>G (p.Lys470Arg)
15g.50242513T>GCA392377179HDCc.1736A>C (p.Lys579Thr)
c.1637A>C (p.Lys546Thr)
n.1480A>C
c.1499A>C (p.Lys500Thr)
c.1304A>C (p.Lys435Thr)
c.1841A>C (p.Lys614Thr)
c.1742A>C (p.Lys581Thr)
c.1613A>C (p.Lys538Thr)
c.1604A>C (p.Lys535Thr)
c.1409A>C (p.Lys470Thr)
15g.50242514T>ACA392377180HDCc.1735A>T (p.Lys579Ter)
c.1636A>T (p.Lys546Ter)
n.1479A>T
c.1498A>T (p.Lys500Ter)
c.1303A>T (p.Lys435Ter)
c.1840A>T (p.Lys614Ter)
c.1741A>T (p.Lys581Ter)
c.1612A>T (p.Lys538Ter)
c.1603A>T (p.Lys535Ter)
c.1408A>T (p.Lys470Ter)
15g.50242514T>CCA392377181HDCc.1735A>G (p.Lys579Glu)
c.1636A>G (p.Lys546Glu)
n.1479A>G
c.1498A>G (p.Lys500Glu)
c.1303A>G (p.Lys435Glu)
c.1840A>G (p.Lys614Glu)
c.1741A>G (p.Lys581Glu)
c.1612A>G (p.Lys538Glu)
c.1603A>G (p.Lys535Glu)
c.1408A>G (p.Lys470Glu)
15g.50242514T>GCA392377182HDCc.1735A>C (p.Lys579Gln)
c.1636A>C (p.Lys546Gln)
n.1479A>C
c.1498A>C (p.Lys500Gln)
c.1303A>C (p.Lys435Gln)
c.1840A>C (p.Lys614Gln)
c.1741A>C (p.Lys581Gln)
c.1612A>C (p.Lys538Gln)
c.1603A>C (p.Lys535Gln)
c.1408A>C (p.Lys470Gln)
15g.50242515C>ACA392377184HDCc.1734G>T (p.Lys578Asn)
c.1635G>T (p.Lys545Asn)
n.1478G>T
c.1497G>T (p.Lys499Asn)
c.1302G>T (p.Lys434Asn)
c.1839G>T (p.Lys613Asn)
c.1740G>T (p.Lys580Asn)
c.1611G>T (p.Lys537Asn)
c.1602G>T (p.Lys534Asn)
c.1407G>T (p.Lys469Asn)
15g.50242515C>GCA392377183HDCc.1734G>C (p.Lys578Asn)
c.1635G>C (p.Lys545Asn)
n.1478G>C
c.1497G>C (p.Lys499Asn)
c.1302G>C (p.Lys434Asn)
c.1839G>C (p.Lys613Asn)
c.1740G>C (p.Lys580Asn)
c.1611G>C (p.Lys537Asn)
c.1602G>C (p.Lys534Asn)
c.1407G>C (p.Lys469Asn)
15g.50242515C>TCA490314183HDCc.1734G>A (p.Lys578=)
c.1635G>A (p.Lys545=)
n.1478G>A
c.1497G>A (p.Lys499=)
c.1302G>A (p.Lys434=)
c.1839G>A (p.Lys613=)
c.1740G>A (p.Lys580=)
c.1611G>A (p.Lys537=)
c.1602G>A (p.Lys534=)
c.1407G>A (p.Lys469=)
15g.50242516T>ACA392377185HDCc.1733A>T (p.Lys578Met)
c.1634A>T (p.Lys545Met)
n.1477A>T
c.1496A>T (p.Lys499Met)
c.1301A>T (p.Lys434Met)
c.1838A>T (p.Lys613Met)
c.1739A>T (p.Lys580Met)
c.1610A>T (p.Lys537Met)
c.1601A>T (p.Lys534Met)
c.1406A>T (p.Lys469Met)
15g.50242516T>CCA392377186HDCc.1733A>G (p.Lys578Arg)
c.1634A>G (p.Lys545Arg)
n.1477A>G
c.1496A>G (p.Lys499Arg)
c.1301A>G (p.Lys434Arg)
c.1838A>G (p.Lys613Arg)
c.1739A>G (p.Lys580Arg)
c.1610A>G (p.Lys537Arg)
c.1601A>G (p.Lys534Arg)
c.1406A>G (p.Lys469Arg)
15g.50242516T>GCA392377187HDCc.1733A>C (p.Lys578Thr)
c.1634A>C (p.Lys545Thr)
n.1477A>C
c.1496A>C (p.Lys499Thr)
c.1301A>C (p.Lys434Thr)
c.1838A>C (p.Lys613Thr)
c.1739A>C (p.Lys580Thr)
c.1610A>C (p.Lys537Thr)
c.1601A>C (p.Lys534Thr)
c.1406A>C (p.Lys469Thr)
15g.50242517T>ACA392377188HDCc.1732A>T (p.Lys578Ter)
c.1633A>T (p.Lys545Ter)
n.1476A>T
c.1495A>T (p.Lys499Ter)
c.1300A>T (p.Lys434Ter)
c.1837A>T (p.Lys613Ter)
c.1738A>T (p.Lys580Ter)
c.1609A>T (p.Lys537Ter)
c.1600A>T (p.Lys534Ter)
c.1405A>T (p.Lys469Ter)
15g.50242517T>CCA392377189HDCc.1732A>G (p.Lys578Glu)
c.1633A>G (p.Lys545Glu)
n.1476A>G
c.1495A>G (p.Lys499Glu)
c.1300A>G (p.Lys434Glu)
c.1837A>G (p.Lys613Glu)
c.1738A>G (p.Lys580Glu)
c.1609A>G (p.Lys537Glu)
c.1600A>G (p.Lys534Glu)
c.1405A>G (p.Lys469Glu)
dbSNP
15g.50242517T>GCA392377190HDCc.1732A>C (p.Lys578Gln)
c.1633A>C (p.Lys545Gln)
n.1476A>C
c.1495A>C (p.Lys499Gln)
c.1300A>C (p.Lys434Gln)
c.1837A>C (p.Lys613Gln)
c.1738A>C (p.Lys580Gln)
c.1609A>C (p.Lys537Gln)
c.1600A>C (p.Lys534Gln)
c.1405A>C (p.Lys469Gln)
15g.50242517T=CA2176326625HDCc.1732A= (p.Lys578=)
c.1633A= (p.Lys545=)
n.1476A=
c.1495A= (p.Lys499=)
c.1300A= (p.Lys434=)
c.1837A= (p.Lys613=)
c.1738A= (p.Lys580=)
c.1609A= (p.Lys537=)
c.1600A= (p.Lys534=)
c.1405A= (p.Lys469=)
15g.50242518A>CCA490314186HDCc.1731T>G (p.Thr577=)
c.1632T>G (p.Thr544=)
n.1475T>G
c.1494T>G (p.Thr498=)
c.1299T>G (p.Thr433=)
c.1836T>G (p.Thr612=)
c.1737T>G (p.Thr579=)
c.1608T>G (p.Thr536=)
c.1599T>G (p.Thr533=)
c.1404T>G (p.Thr468=)
15g.50242518A>GCA490314188HDCc.1731T>C (p.Thr577=)
c.1632T>C (p.Thr544=)
n.1475T>C
c.1494T>C (p.Thr498=)
c.1299T>C (p.Thr433=)
c.1836T>C (p.Thr612=)
c.1737T>C (p.Thr579=)
c.1608T>C (p.Thr536=)
c.1599T>C (p.Thr533=)
c.1404T>C (p.Thr468=)
15g.50242518A>TCA490314190HDCc.1731T>A (p.Thr577=)
c.1632T>A (p.Thr544=)
n.1475T>A
c.1494T>A (p.Thr498=)
c.1299T>A (p.Thr433=)
c.1836T>A (p.Thr612=)
c.1737T>A (p.Thr579=)
c.1608T>A (p.Thr536=)
c.1599T>A (p.Thr533=)
c.1404T>A (p.Thr468=)
15g.50242519G>ACA392377193HDCc.1730C>T (p.Thr577Ile)
c.1631C>T (p.Thr544Ile)
n.1474C>T
c.1493C>T (p.Thr498Ile)
c.1298C>T (p.Thr433Ile)
c.1835C>T (p.Thr612Ile)
c.1736C>T (p.Thr579Ile)
c.1607C>T (p.Thr536Ile)
c.1598C>T (p.Thr533Ile)
c.1403C>T (p.Thr468Ile)
15g.50242519G>CCA392377191HDCc.1730C>G (p.Thr577Ser)
c.1631C>G (p.Thr544Ser)
n.1474C>G
c.1493C>G (p.Thr498Ser)
c.1298C>G (p.Thr433Ser)
c.1835C>G (p.Thr612Ser)
c.1736C>G (p.Thr579Ser)
c.1607C>G (p.Thr536Ser)
c.1598C>G (p.Thr533Ser)
c.1403C>G (p.Thr468Ser)
15g.50242519G>TCA392377192HDCc.1730C>A (p.Thr577Asn)
c.1631C>A (p.Thr544Asn)
n.1474C>A
c.1493C>A (p.Thr498Asn)
c.1298C>A (p.Thr433Asn)
c.1835C>A (p.Thr612Asn)
c.1736C>A (p.Thr579Asn)
c.1607C>A (p.Thr536Asn)
c.1598C>A (p.Thr533Asn)
c.1403C>A (p.Thr468Asn)
15g.50242520T>ACA7554508HDCc.1729A>T (p.Thr577Ser)
c.1630A>T (p.Thr544Ser)
n.1473A>T
c.1492A>T (p.Thr498Ser)
c.1297A>T (p.Thr433Ser)
c.1834A>T (p.Thr612Ser)
c.1735A>T (p.Thr579Ser)
c.1606A>T (p.Thr536Ser)
c.1597A>T (p.Thr533Ser)
c.1402A>T (p.Thr468Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242520T>CCA392377194HDCc.1729A>G (p.Thr577Ala)
c.1630A>G (p.Thr544Ala)
n.1473A>G
c.1492A>G (p.Thr498Ala)
c.1297A>G (p.Thr433Ala)
c.1834A>G (p.Thr612Ala)
c.1735A>G (p.Thr579Ala)
c.1606A>G (p.Thr536Ala)
c.1597A>G (p.Thr533Ala)
c.1402A>G (p.Thr468Ala)
dbSNP gnomAD v2 gnomAD v4
15g.50242520T>GCA392377195HDCc.1729A>C (p.Thr577Pro)
c.1630A>C (p.Thr544Pro)
n.1473A>C
c.1492A>C (p.Thr498Pro)
c.1297A>C (p.Thr433Pro)
c.1834A>C (p.Thr612Pro)
c.1735A>C (p.Thr579Pro)
c.1606A>C (p.Thr536Pro)
c.1597A>C (p.Thr533Pro)
c.1402A>C (p.Thr468Pro)
15g.50242520T=CA2176326626HDCc.1729A= (p.Thr577=)
c.1630A= (p.Thr544=)
n.1473A=
c.1492A= (p.Thr498=)
c.1297A= (p.Thr433=)
c.1834A= (p.Thr612=)
c.1735A= (p.Thr579=)
c.1606A= (p.Thr536=)
c.1597A= (p.Thr533=)
c.1402A= (p.Thr468=)
15g.50242521C>ACA392377196HDCc.1728G>T (p.Gln576His)
c.1629G>T (p.Gln543His)
n.1472G>T
c.1491G>T (p.Gln497His)
c.1296G>T (p.Gln432His)
c.1833G>T (p.Gln611His)
c.1734G>T (p.Gln578His)
c.1605G>T (p.Gln535His)
c.1596G>T (p.Gln532His)
c.1401G>T (p.Gln467His)
dbSNP gnomAD v3 gnomAD v4
15g.50242521C=CA2176326627HDCc.1728G= (p.Gln576=)
c.1629G= (p.Gln543=)
n.1472G=
c.1491G= (p.Gln497=)
c.1296G= (p.Gln432=)
c.1833G= (p.Gln611=)
c.1734G= (p.Gln578=)
c.1605G= (p.Gln535=)
c.1596G= (p.Gln532=)
c.1401G= (p.Gln467=)
15g.50242521C>GCA392377197HDCc.1728G>C (p.Gln576His)
c.1629G>C (p.Gln543His)
n.1472G>C
c.1491G>C (p.Gln497His)
c.1296G>C (p.Gln432His)
c.1833G>C (p.Gln611His)
c.1734G>C (p.Gln578His)
c.1605G>C (p.Gln535His)
c.1596G>C (p.Gln532His)
c.1401G>C (p.Gln467His)
15g.50242521C>TCA490314192HDCc.1728G>A (p.Gln576=)
c.1629G>A (p.Gln543=)
n.1472G>A
c.1491G>A (p.Gln497=)
c.1296G>A (p.Gln432=)
c.1833G>A (p.Gln611=)
c.1734G>A (p.Gln578=)
c.1605G>A (p.Gln535=)
c.1596G>A (p.Gln532=)
c.1401G>A (p.Gln467=)
15g.50242522T>ACA392377198HDCc.1727A>T (p.Gln576Leu)
c.1628A>T (p.Gln543Leu)
n.1471A>T
c.1490A>T (p.Gln497Leu)
c.1295A>T (p.Gln432Leu)
c.1832A>T (p.Gln611Leu)
c.1733A>T (p.Gln578Leu)
c.1604A>T (p.Gln535Leu)
c.1595A>T (p.Gln532Leu)
c.1400A>T (p.Gln467Leu)
15g.50242522T>CCA392377200HDCc.1727A>G (p.Gln576Arg)
c.1628A>G (p.Gln543Arg)
n.1471A>G
c.1490A>G (p.Gln497Arg)
c.1295A>G (p.Gln432Arg)
c.1832A>G (p.Gln611Arg)
c.1733A>G (p.Gln578Arg)
c.1604A>G (p.Gln535Arg)
c.1595A>G (p.Gln532Arg)
c.1400A>G (p.Gln467Arg)
15g.50242522T>GCA392377199HDCc.1727A>C (p.Gln576Pro)
c.1628A>C (p.Gln543Pro)
n.1471A>C
c.1490A>C (p.Gln497Pro)
c.1295A>C (p.Gln432Pro)
c.1832A>C (p.Gln611Pro)
c.1733A>C (p.Gln578Pro)
c.1604A>C (p.Gln535Pro)
c.1595A>C (p.Gln532Pro)
c.1400A>C (p.Gln467Pro)
15g.50242523G>ACA392377201HDCc.1726C>T (p.Gln576Ter)
c.1627C>T (p.Gln543Ter)
n.1470C>T
c.1489C>T (p.Gln497Ter)
c.1294C>T (p.Gln432Ter)
c.1831C>T (p.Gln611Ter)
c.1732C>T (p.Gln578Ter)
c.1603C>T (p.Gln535Ter)
c.1594C>T (p.Gln532Ter)
c.1399C>T (p.Gln467Ter)
dbSNP
15g.50242523G>CCA392377202HDCc.1726C>G (p.Gln576Glu)
c.1627C>G (p.Gln543Glu)
n.1470C>G
c.1489C>G (p.Gln497Glu)
c.1294C>G (p.Gln432Glu)
c.1831C>G (p.Gln611Glu)
c.1732C>G (p.Gln578Glu)
c.1603C>G (p.Gln535Glu)
c.1594C>G (p.Gln532Glu)
c.1399C>G (p.Gln467Glu)
15g.50242523G=CA2176326628HDCc.1726C= (p.Gln576=)
c.1627C= (p.Gln543=)
n.1470C=
c.1489C= (p.Gln497=)
c.1294C= (p.Gln432=)
c.1831C= (p.Gln611=)
c.1732C= (p.Gln578=)
c.1603C= (p.Gln535=)
c.1594C= (p.Gln532=)
c.1399C= (p.Gln467=)
15g.50242523G>TCA392377203HDCc.1726C>A (p.Gln576Lys)
c.1627C>A (p.Gln543Lys)
n.1470C>A
c.1489C>A (p.Gln497Lys)
c.1294C>A (p.Gln432Lys)
c.1831C>A (p.Gln611Lys)
c.1732C>A (p.Gln578Lys)
c.1603C>A (p.Gln535Lys)
c.1594C>A (p.Gln532Lys)
c.1399C>A (p.Gln467Lys)
15g.50242524C>ACA490314193HDCc.1725G>T (p.Val575=)
c.1626G>T (p.Val542=)
n.1469G>T
c.1488G>T (p.Val496=)
c.1293G>T (p.Val431=)
c.1830G>T (p.Val610=)
c.1731G>T (p.Val577=)
c.1602G>T (p.Val534=)
c.1593G>T (p.Val531=)
c.1398G>T (p.Val466=)
dbSNP
15g.50242524C=CA2176326629HDCc.1725G= (p.Val575=)
c.1626G= (p.Val542=)
n.1469G=
c.1488G= (p.Val496=)
c.1293G= (p.Val431=)
c.1830G= (p.Val610=)
c.1731G= (p.Val577=)
c.1602G= (p.Val534=)
c.1593G= (p.Val531=)
c.1398G= (p.Val466=)
15g.50242524C>GCA490314194HDCc.1725G>C (p.Val575=)
c.1626G>C (p.Val542=)
n.1469G>C
c.1488G>C (p.Val496=)
c.1293G>C (p.Val431=)
c.1830G>C (p.Val610=)
c.1731G>C (p.Val577=)
c.1602G>C (p.Val534=)
c.1593G>C (p.Val531=)
c.1398G>C (p.Val466=)
15g.50242524C>TCA490314195HDCc.1725G>A (p.Val575=)
c.1626G>A (p.Val542=)
n.1469G>A
c.1488G>A (p.Val496=)
c.1293G>A (p.Val431=)
c.1830G>A (p.Val610=)
c.1731G>A (p.Val577=)
c.1602G>A (p.Val534=)
c.1593G>A (p.Val531=)
c.1398G>A (p.Val466=)
15g.50242525A>CCA392377204HDCc.1724T>G (p.Val575Gly)
c.1625T>G (p.Val542Gly)
n.1468T>G
c.1487T>G (p.Val496Gly)
c.1292T>G (p.Val431Gly)
c.1829T>G (p.Val610Gly)
c.1730T>G (p.Val577Gly)
c.1601T>G (p.Val534Gly)
c.1592T>G (p.Val531Gly)
c.1397T>G (p.Val466Gly)
15g.50242525A>GCA392377205HDCc.1724T>C (p.Val575Ala)
c.1625T>C (p.Val542Ala)
n.1468T>C
c.1487T>C (p.Val496Ala)
c.1292T>C (p.Val431Ala)
c.1829T>C (p.Val610Ala)
c.1730T>C (p.Val577Ala)
c.1601T>C (p.Val534Ala)
c.1592T>C (p.Val531Ala)
c.1397T>C (p.Val466Ala)
15g.50242525A>TCA392377206HDCc.1724T>A (p.Val575Glu)
c.1625T>A (p.Val542Glu)
n.1468T>A
c.1487T>A (p.Val496Glu)
c.1292T>A (p.Val431Glu)
c.1829T>A (p.Val610Glu)
c.1730T>A (p.Val577Glu)
c.1601T>A (p.Val534Glu)
c.1592T>A (p.Val531Glu)
c.1397T>A (p.Val466Glu)
15g.50242526C>ACA392377207HDCc.1723G>T (p.Val575Leu)
c.1624G>T (p.Val542Leu)
n.1467G>T
c.1486G>T (p.Val496Leu)
c.1291G>T (p.Val431Leu)
c.1828G>T (p.Val610Leu)
c.1729G>T (p.Val577Leu)
c.1600G>T (p.Val534Leu)
c.1591G>T (p.Val531Leu)
c.1396G>T (p.Val466Leu)
15g.50242526C>GCA392377208HDCc.1723G>C (p.Val575Leu)
c.1624G>C (p.Val542Leu)
n.1467G>C
c.1486G>C (p.Val496Leu)
c.1291G>C (p.Val431Leu)
c.1828G>C (p.Val610Leu)
c.1729G>C (p.Val577Leu)
c.1600G>C (p.Val534Leu)
c.1591G>C (p.Val531Leu)
c.1396G>C (p.Val466Leu)
15g.50242526C>TCA392377209HDCc.1723G>A (p.Val575Met)
c.1624G>A (p.Val542Met)
n.1467G>A
c.1486G>A (p.Val496Met)
c.1291G>A (p.Val431Met)
c.1828G>A (p.Val610Met)
c.1729G>A (p.Val577Met)
c.1600G>A (p.Val534Met)
c.1591G>A (p.Val531Met)
c.1396G>A (p.Val466Met)
15g.50242527A>CCA490314197HDCc.1722T>G (p.Ser574=)
c.1623T>G (p.Ser541=)
n.1466T>G
c.1485T>G (p.Ser495=)
c.1290T>G (p.Ser430=)
c.1827T>G (p.Ser609=)
c.1728T>G (p.Ser576=)
c.1599T>G (p.Ser533=)
c.1590T>G (p.Ser530=)
c.1395T>G (p.Ser465=)
15g.50242527A>GCA490314198HDCc.1722T>C (p.Ser574=)
c.1623T>C (p.Ser541=)
n.1466T>C
c.1485T>C (p.Ser495=)
c.1290T>C (p.Ser430=)
c.1827T>C (p.Ser609=)
c.1728T>C (p.Ser576=)
c.1599T>C (p.Ser533=)
c.1590T>C (p.Ser530=)
c.1395T>C (p.Ser465=)
15g.50242527A>TCA490314199HDCc.1722T>A (p.Ser574=)
c.1623T>A (p.Ser541=)
n.1466T>A
c.1485T>A (p.Ser495=)
c.1290T>A (p.Ser430=)
c.1827T>A (p.Ser609=)
c.1728T>A (p.Ser576=)
c.1599T>A (p.Ser533=)
c.1590T>A (p.Ser530=)
c.1395T>A (p.Ser465=)
15g.50242528G>ACA7554509HDCc.1721C>T (p.Ser574Phe)
c.1622C>T (p.Ser541Phe)
n.1465C>T
c.1484C>T (p.Ser495Phe)
c.1289C>T (p.Ser430Phe)
c.1826C>T (p.Ser609Phe)
c.1727C>T (p.Ser576Phe)
c.1598C>T (p.Ser533Phe)
c.1589C>T (p.Ser530Phe)
c.1394C>T (p.Ser465Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242528G>CCA392377210HDCc.1721C>G (p.Ser574Cys)
c.1622C>G (p.Ser541Cys)
n.1465C>G
c.1484C>G (p.Ser495Cys)
c.1289C>G (p.Ser430Cys)
c.1826C>G (p.Ser609Cys)
c.1727C>G (p.Ser576Cys)
c.1598C>G (p.Ser533Cys)
c.1589C>G (p.Ser530Cys)
c.1394C>G (p.Ser465Cys)
15g.50242528G=CA2176326630HDCc.1721C= (p.Ser574=)
c.1622C= (p.Ser541=)
n.1465C=
c.1484C= (p.Ser495=)
c.1289C= (p.Ser430=)
c.1826C= (p.Ser609=)
c.1727C= (p.Ser576=)
c.1598C= (p.Ser533=)
c.1589C= (p.Ser530=)
c.1394C= (p.Ser465=)
15g.50242528G>TCA392377211HDCc.1721C>A (p.Ser574Tyr)
c.1622C>A (p.Ser541Tyr)
n.1465C>A
c.1484C>A (p.Ser495Tyr)
c.1289C>A (p.Ser430Tyr)
c.1826C>A (p.Ser609Tyr)
c.1727C>A (p.Ser576Tyr)
c.1598C>A (p.Ser533Tyr)
c.1589C>A (p.Ser530Tyr)
c.1394C>A (p.Ser465Tyr)
15g.50242529A=CA2176326631HDCc.1720T= (p.Ser574=)
c.1621T= (p.Ser541=)
n.1464T=
c.1483T= (p.Ser495=)
c.1288T= (p.Ser430=)
c.1825T= (p.Ser609=)
c.1726T= (p.Ser576=)
c.1597T= (p.Ser533=)
c.1588T= (p.Ser530=)
c.1393T= (p.Ser465=)
15g.50242529A>CCA392377213HDCc.1720T>G (p.Ser574Ala)
c.1621T>G (p.Ser541Ala)
n.1464T>G
c.1483T>G (p.Ser495Ala)
c.1288T>G (p.Ser430Ala)
c.1825T>G (p.Ser609Ala)
c.1726T>G (p.Ser576Ala)
c.1597T>G (p.Ser533Ala)
c.1588T>G (p.Ser530Ala)
c.1393T>G (p.Ser465Ala)
dbSNP
15g.50242529A>GCA392377214HDCc.1720T>C (p.Ser574Pro)
c.1621T>C (p.Ser541Pro)
n.1464T>C
c.1483T>C (p.Ser495Pro)
c.1288T>C (p.Ser430Pro)
c.1825T>C (p.Ser609Pro)
c.1726T>C (p.Ser576Pro)
c.1597T>C (p.Ser533Pro)
c.1588T>C (p.Ser530Pro)
c.1393T>C (p.Ser465Pro)
15g.50242529A>TCA392377212HDCc.1720T>A (p.Ser574Thr)
c.1621T>A (p.Ser541Thr)
n.1464T>A
c.1483T>A (p.Ser495Thr)
c.1288T>A (p.Ser430Thr)
c.1825T>A (p.Ser609Thr)
c.1726T>A (p.Ser576Thr)
c.1597T>A (p.Ser533Thr)
c.1588T>A (p.Ser530Thr)
c.1393T>A (p.Ser465Thr)
15g.50242530C>ACA392377215HDCc.1719G>T (p.Leu573Phe)
c.1620G>T (p.Leu540Phe)
n.1463G>T
c.1482G>T (p.Leu494Phe)
c.1287G>T (p.Leu429Phe)
c.1824G>T (p.Leu608Phe)
c.1725G>T (p.Leu575Phe)
c.1596G>T (p.Leu532Phe)
c.1587G>T (p.Leu529Phe)
c.1392G>T (p.Leu464Phe)
15g.50242530C>GCA392377216HDCc.1719G>C (p.Leu573Phe)
c.1620G>C (p.Leu540Phe)
n.1463G>C
c.1482G>C (p.Leu494Phe)
c.1287G>C (p.Leu429Phe)
c.1824G>C (p.Leu608Phe)
c.1725G>C (p.Leu575Phe)
c.1596G>C (p.Leu532Phe)
c.1587G>C (p.Leu529Phe)
c.1392G>C (p.Leu464Phe)
15g.50242530C>TCA490314201HDCc.1719G>A (p.Leu573=)
c.1620G>A (p.Leu540=)
n.1463G>A
c.1482G>A (p.Leu494=)
c.1287G>A (p.Leu429=)
c.1824G>A (p.Leu608=)
c.1725G>A (p.Leu575=)
c.1596G>A (p.Leu532=)
c.1587G>A (p.Leu529=)
c.1392G>A (p.Leu464=)
15g.50242531A=CA2176326632HDCc.1718T= (p.Leu573=)
c.1619T= (p.Leu540=)
n.1462T=
c.1481T= (p.Leu494=)
c.1286T= (p.Leu429=)
c.1823T= (p.Leu608=)
c.1724T= (p.Leu575=)
c.1595T= (p.Leu532=)
c.1586T= (p.Leu529=)
c.1391T= (p.Leu464=)
15g.50242531A>CCA392377217HDCc.1718T>G (p.Leu573Trp)
c.1619T>G (p.Leu540Trp)
n.1462T>G
c.1481T>G (p.Leu494Trp)
c.1286T>G (p.Leu429Trp)
c.1823T>G (p.Leu608Trp)
c.1724T>G (p.Leu575Trp)
c.1595T>G (p.Leu532Trp)
c.1586T>G (p.Leu529Trp)
c.1391T>G (p.Leu464Trp)
15g.50242531A>GCA392377219HDCc.1718T>C (p.Leu573Ser)
c.1619T>C (p.Leu540Ser)
n.1462T>C
c.1481T>C (p.Leu494Ser)
c.1286T>C (p.Leu429Ser)
c.1823T>C (p.Leu608Ser)
c.1724T>C (p.Leu575Ser)
c.1595T>C (p.Leu532Ser)
c.1586T>C (p.Leu529Ser)
c.1391T>C (p.Leu464Ser)
dbSNP
15g.50242531A>TCA392377218HDCc.1718T>A (p.Leu573Ter)
c.1619T>A (p.Leu540Ter)
n.1462T>A
c.1481T>A (p.Leu494Ter)
c.1286T>A (p.Leu429Ter)
c.1823T>A (p.Leu608Ter)
c.1724T>A (p.Leu575Ter)
c.1595T>A (p.Leu532Ter)
c.1586T>A (p.Leu529Ter)
c.1391T>A (p.Leu464Ter)
15g.50242532A>CCA392377220HDCc.1717T>G (p.Leu573Val)
c.1618T>G (p.Leu540Val)
n.1461T>G
c.1480T>G (p.Leu494Val)
c.1285T>G (p.Leu429Val)
c.1822T>G (p.Leu608Val)
c.1723T>G (p.Leu575Val)
c.1594T>G (p.Leu532Val)
c.1585T>G (p.Leu529Val)
c.1390T>G (p.Leu464Val)
15g.50242532A>GCA490314202HDCc.1717T>C (p.Leu573=)
c.1618T>C (p.Leu540=)
n.1461T>C
c.1480T>C (p.Leu494=)
c.1285T>C (p.Leu429=)
c.1822T>C (p.Leu608=)
c.1723T>C (p.Leu575=)
c.1594T>C (p.Leu532=)
c.1585T>C (p.Leu529=)
c.1390T>C (p.Leu464=)
15g.50242532A>TCA392377221HDCc.1717T>A (p.Leu573Met)
c.1618T>A (p.Leu540Met)
n.1461T>A
c.1480T>A (p.Leu494Met)
c.1285T>A (p.Leu429Met)
c.1822T>A (p.Leu608Met)
c.1723T>A (p.Leu575Met)
c.1594T>A (p.Leu532Met)
c.1585T>A (p.Leu529Met)
c.1390T>A (p.Leu464Met)
15g.50242533G>ACA490314203HDCc.1716C>T (p.Tyr572=)
c.1617C>T (p.Tyr539=)
n.1460C>T
c.1479C>T (p.Tyr493=)
c.1284C>T (p.Tyr428=)
c.1821C>T (p.Tyr607=)
c.1722C>T (p.Tyr574=)
c.1593C>T (p.Tyr531=)
c.1584C>T (p.Tyr528=)
c.1389C>T (p.Tyr463=)
dbSNP
15g.50242533G>CCA392377222HDCc.1716C>G (p.Tyr572Ter)
c.1617C>G (p.Tyr539Ter)
n.1460C>G
c.1479C>G (p.Tyr493Ter)
c.1284C>G (p.Tyr428Ter)
c.1821C>G (p.Tyr607Ter)
c.1722C>G (p.Tyr574Ter)
c.1593C>G (p.Tyr531Ter)
c.1584C>G (p.Tyr528Ter)
c.1389C>G (p.Tyr463Ter)
15g.50242533G>TCA392377223HDCc.1716C>A (p.Tyr572Ter)
c.1617C>A (p.Tyr539Ter)
n.1460C>A
c.1479C>A (p.Tyr493Ter)
c.1284C>A (p.Tyr428Ter)
c.1821C>A (p.Tyr607Ter)
c.1722C>A (p.Tyr574Ter)
c.1593C>A (p.Tyr531Ter)
c.1584C>A (p.Tyr528Ter)
c.1389C>A (p.Tyr463Ter)
15g.50242534T>ACA392377224HDCc.1715A>T (p.Tyr572Phe)
c.1616A>T (p.Tyr539Phe)
n.1459A>T
c.1478A>T (p.Tyr493Phe)
c.1283A>T (p.Tyr428Phe)
c.1820A>T (p.Tyr607Phe)
c.1721A>T (p.Tyr574Phe)
c.1592A>T (p.Tyr531Phe)
c.1583A>T (p.Tyr528Phe)
c.1388A>T (p.Tyr463Phe)
15g.50242534T>CCA392377225HDCc.1715A>G (p.Tyr572Cys)
c.1616A>G (p.Tyr539Cys)
n.1459A>G
c.1478A>G (p.Tyr493Cys)
c.1283A>G (p.Tyr428Cys)
c.1820A>G (p.Tyr607Cys)
c.1721A>G (p.Tyr574Cys)
c.1592A>G (p.Tyr531Cys)
c.1583A>G (p.Tyr528Cys)
c.1388A>G (p.Tyr463Cys)
15g.50242534T>GCA392377226HDCc.1715A>C (p.Tyr572Ser)
c.1616A>C (p.Tyr539Ser)
n.1459A>C
c.1478A>C (p.Tyr493Ser)
c.1283A>C (p.Tyr428Ser)
c.1820A>C (p.Tyr607Ser)
c.1721A>C (p.Tyr574Ser)
c.1592A>C (p.Tyr531Ser)
c.1583A>C (p.Tyr528Ser)
c.1388A>C (p.Tyr463Ser)
15g.50242535A>CCA392377227HDCc.1714T>G (p.Tyr572Asp)
c.1615T>G (p.Tyr539Asp)
n.1458T>G
c.1477T>G (p.Tyr493Asp)
c.1282T>G (p.Tyr428Asp)
c.1819T>G (p.Tyr607Asp)
c.1720T>G (p.Tyr574Asp)
c.1591T>G (p.Tyr531Asp)
c.1582T>G (p.Tyr528Asp)
c.1387T>G (p.Tyr463Asp)
15g.50242535A>GCA392377228HDCc.1714T>C (p.Tyr572His)
c.1615T>C (p.Tyr539His)
n.1458T>C
c.1477T>C (p.Tyr493His)
c.1282T>C (p.Tyr428His)
c.1819T>C (p.Tyr607His)
c.1720T>C (p.Tyr574His)
c.1591T>C (p.Tyr531His)
c.1582T>C (p.Tyr528His)
c.1387T>C (p.Tyr463His)
15g.50242535A>TCA392377229HDCc.1714T>A (p.Tyr572Asn)
c.1615T>A (p.Tyr539Asn)
n.1458T>A
c.1477T>A (p.Tyr493Asn)
c.1282T>A (p.Tyr428Asn)
c.1819T>A (p.Tyr607Asn)
c.1720T>A (p.Tyr574Asn)
c.1591T>A (p.Tyr531Asn)
c.1582T>A (p.Tyr528Asn)
c.1387T>A (p.Tyr463Asn)
15g.50242536A>CCA392377230HDCc.1713T>G (p.Ser571Arg)
c.1614T>G (p.Ser538Arg)
n.1457T>G
c.1476T>G (p.Ser492Arg)
c.1281T>G (p.Ser427Arg)
c.1818T>G (p.Ser606Arg)
c.1719T>G (p.Ser573Arg)
c.1590T>G (p.Ser530Arg)
c.1581T>G (p.Ser527Arg)
c.1386T>G (p.Ser462Arg)
15g.50242536A>GCA490314205HDCc.1713T>C (p.Ser571=)
c.1614T>C (p.Ser538=)
n.1457T>C
c.1476T>C (p.Ser492=)
c.1281T>C (p.Ser427=)
c.1818T>C (p.Ser606=)
c.1719T>C (p.Ser573=)
c.1590T>C (p.Ser530=)
c.1581T>C (p.Ser527=)
c.1386T>C (p.Ser462=)
15g.50242536A>TCA392377231HDCc.1713T>A (p.Ser571Arg)
c.1614T>A (p.Ser538Arg)
n.1457T>A
c.1476T>A (p.Ser492Arg)
c.1281T>A (p.Ser427Arg)
c.1818T>A (p.Ser606Arg)
c.1719T>A (p.Ser573Arg)
c.1590T>A (p.Ser530Arg)
c.1581T>A (p.Ser527Arg)
c.1386T>A (p.Ser462Arg)
15g.50242537C>ACA392377234HDCc.1712G>T (p.Ser571Ile)
c.1613G>T (p.Ser538Ile)
n.1456G>T
c.1475G>T (p.Ser492Ile)
c.1280G>T (p.Ser427Ile)
c.1817G>T (p.Ser606Ile)
c.1718G>T (p.Ser573Ile)
c.1589G>T (p.Ser530Ile)
c.1580G>T (p.Ser527Ile)
c.1385G>T (p.Ser462Ile)
15g.50242537C>GCA392377232HDCc.1712G>C (p.Ser571Thr)
c.1613G>C (p.Ser538Thr)
n.1456G>C
c.1475G>C (p.Ser492Thr)
c.1280G>C (p.Ser427Thr)
c.1817G>C (p.Ser606Thr)
c.1718G>C (p.Ser573Thr)
c.1589G>C (p.Ser530Thr)
c.1580G>C (p.Ser527Thr)
c.1385G>C (p.Ser462Thr)
15g.50242537C>TCA392377233HDCc.1712G>A (p.Ser571Asn)
c.1613G>A (p.Ser538Asn)
n.1456G>A
c.1475G>A (p.Ser492Asn)
c.1280G>A (p.Ser427Asn)
c.1817G>A (p.Ser606Asn)
c.1718G>A (p.Ser573Asn)
c.1589G>A (p.Ser530Asn)
c.1580G>A (p.Ser527Asn)
c.1385G>A (p.Ser462Asn)
15g.50242538T>ACA392377235HDCc.1711A>T (p.Ser571Cys)
c.1612A>T (p.Ser538Cys)
n.1455A>T
c.1474A>T (p.Ser492Cys)
c.1279A>T (p.Ser427Cys)
c.1816A>T (p.Ser606Cys)
c.1717A>T (p.Ser573Cys)
c.1588A>T (p.Ser530Cys)
c.1579A>T (p.Ser527Cys)
c.1384A>T (p.Ser462Cys)
15g.50242538T>CCA392377236HDCc.1711A>G (p.Ser571Gly)
c.1612A>G (p.Ser538Gly)
n.1455A>G
c.1474A>G (p.Ser492Gly)
c.1279A>G (p.Ser427Gly)
c.1816A>G (p.Ser606Gly)
c.1717A>G (p.Ser573Gly)
c.1588A>G (p.Ser530Gly)
c.1579A>G (p.Ser527Gly)
c.1384A>G (p.Ser462Gly)
15g.50242538T>GCA392377237HDCc.1711A>C (p.Ser571Arg)
c.1612A>C (p.Ser538Arg)
n.1455A>C
c.1474A>C (p.Ser492Arg)
c.1279A>C (p.Ser427Arg)
c.1816A>C (p.Ser606Arg)
c.1717A>C (p.Ser573Arg)
c.1588A>C (p.Ser530Arg)
c.1579A>C (p.Ser527Arg)
c.1384A>C (p.Ser462Arg)
15g.50242539G>ACA490314208HDCc.1710C>T (p.Phe570=)
c.1611C>T (p.Phe537=)
n.1454C>T
c.1473C>T (p.Phe491=)
c.1278C>T (p.Phe426=)
c.1815C>T (p.Phe605=)
c.1716C>T (p.Phe572=)
c.1587C>T (p.Phe529=)
c.1578C>T (p.Phe526=)
c.1383C>T (p.Phe461=)
COSMIC
15g.50242539G>CCA392377238HDCc.1710C>G (p.Phe570Leu)
c.1611C>G (p.Phe537Leu)
n.1454C>G
c.1473C>G (p.Phe491Leu)
c.1278C>G (p.Phe426Leu)
c.1815C>G (p.Phe605Leu)
c.1716C>G (p.Phe572Leu)
c.1587C>G (p.Phe529Leu)
c.1578C>G (p.Phe526Leu)
c.1383C>G (p.Phe461Leu)
15g.50242539G>TCA392377239HDCc.1710C>A (p.Phe570Leu)
c.1611C>A (p.Phe537Leu)
n.1454C>A
c.1473C>A (p.Phe491Leu)
c.1278C>A (p.Phe426Leu)
c.1815C>A (p.Phe605Leu)
c.1716C>A (p.Phe572Leu)
c.1587C>A (p.Phe529Leu)
c.1578C>A (p.Phe526Leu)
c.1383C>A (p.Phe461Leu)
15g.50242540A>CCA392377240HDCc.1709T>G (p.Phe570Cys)
c.1610T>G (p.Phe537Cys)
n.1453T>G
c.1472T>G (p.Phe491Cys)
c.1277T>G (p.Phe426Cys)
c.1814T>G (p.Phe605Cys)
c.1715T>G (p.Phe572Cys)
c.1586T>G (p.Phe529Cys)
c.1577T>G (p.Phe526Cys)
c.1382T>G (p.Phe461Cys)
15g.50242540A>GCA392377241HDCc.1709T>C (p.Phe570Ser)
c.1610T>C (p.Phe537Ser)
n.1453T>C
c.1472T>C (p.Phe491Ser)
c.1277T>C (p.Phe426Ser)
c.1814T>C (p.Phe605Ser)
c.1715T>C (p.Phe572Ser)
c.1586T>C (p.Phe529Ser)
c.1577T>C (p.Phe526Ser)
c.1382T>C (p.Phe461Ser)
15g.50242540A>TCA392377242HDCc.1709T>A (p.Phe570Tyr)
c.1610T>A (p.Phe537Tyr)
n.1453T>A
c.1472T>A (p.Phe491Tyr)
c.1277T>A (p.Phe426Tyr)
c.1814T>A (p.Phe605Tyr)
c.1715T>A (p.Phe572Tyr)
c.1586T>A (p.Phe529Tyr)
c.1577T>A (p.Phe526Tyr)
c.1382T>A (p.Phe461Tyr)
15g.50242541A>CCA392377243HDCc.1708T>G (p.Phe570Val)
c.1609T>G (p.Phe537Val)
n.1452T>G
c.1471T>G (p.Phe491Val)
c.1276T>G (p.Phe426Val)
c.1813T>G (p.Phe605Val)
c.1714T>G (p.Phe572Val)
c.1585T>G (p.Phe529Val)
c.1576T>G (p.Phe526Val)
c.1381T>G (p.Phe461Val)
15g.50242541A>GCA392377244HDCc.1708T>C (p.Phe570Leu)
c.1609T>C (p.Phe537Leu)
n.1452T>C
c.1471T>C (p.Phe491Leu)
c.1276T>C (p.Phe426Leu)
c.1813T>C (p.Phe605Leu)
c.1714T>C (p.Phe572Leu)
c.1585T>C (p.Phe529Leu)
c.1576T>C (p.Phe526Leu)
c.1381T>C (p.Phe461Leu)
gnomAD v4 COSMIC
15g.50242541A>TCA392377245HDCc.1708T>A (p.Phe570Ile)
c.1609T>A (p.Phe537Ile)
n.1452T>A
c.1471T>A (p.Phe491Ile)
c.1276T>A (p.Phe426Ile)
c.1813T>A (p.Phe605Ile)
c.1714T>A (p.Phe572Ile)
c.1585T>A (p.Phe529Ile)
c.1576T>A (p.Phe526Ile)
c.1381T>A (p.Phe461Ile)
15g.50242542C>ACA490314210HDCc.1707G>T (p.Leu569=)
c.1608G>T (p.Leu536=)
n.1451G>T
c.1470G>T (p.Leu490=)
c.1275G>T (p.Leu425=)
c.1812G>T (p.Leu604=)
c.1713G>T (p.Leu571=)
c.1584G>T (p.Leu528=)
c.1575G>T (p.Leu525=)
c.1380G>T (p.Leu460=)
15g.50242542C>GCA490314211HDCc.1707G>C (p.Leu569=)
c.1608G>C (p.Leu536=)
n.1451G>C
c.1470G>C (p.Leu490=)
c.1275G>C (p.Leu425=)
c.1812G>C (p.Leu604=)
c.1713G>C (p.Leu571=)
c.1584G>C (p.Leu528=)
c.1575G>C (p.Leu525=)
c.1380G>C (p.Leu460=)
gnomAD v4
15g.50242542C>TCA490314212HDCc.1707G>A (p.Leu569=)
c.1608G>A (p.Leu536=)
n.1451G>A
c.1470G>A (p.Leu490=)
c.1275G>A (p.Leu425=)
c.1812G>A (p.Leu604=)
c.1713G>A (p.Leu571=)
c.1584G>A (p.Leu528=)
c.1575G>A (p.Leu525=)
c.1380G>A (p.Leu460=)
15g.50242543A=CA2176326633HDCc.1706T= (p.Leu569=)
c.1607T= (p.Leu536=)
n.1450T=
c.1469T= (p.Leu490=)
c.1274T= (p.Leu425=)
c.1811T= (p.Leu604=)
c.1712T= (p.Leu571=)
c.1583T= (p.Leu528=)
c.1574T= (p.Leu525=)
c.1379T= (p.Leu460=)
15g.50242543A>CCA392377247HDCc.1706T>G (p.Leu569Arg)
c.1607T>G (p.Leu536Arg)
n.1450T>G
c.1469T>G (p.Leu490Arg)
c.1274T>G (p.Leu425Arg)
c.1811T>G (p.Leu604Arg)
c.1712T>G (p.Leu571Arg)
c.1583T>G (p.Leu528Arg)
c.1574T>G (p.Leu525Arg)
c.1379T>G (p.Leu460Arg)
15g.50242543A>GCA7554510HDCc.1706T>C (p.Leu569Pro)
c.1607T>C (p.Leu536Pro)
n.1450T>C
c.1469T>C (p.Leu490Pro)
c.1274T>C (p.Leu425Pro)
c.1811T>C (p.Leu604Pro)
c.1712T>C (p.Leu571Pro)
c.1583T>C (p.Leu528Pro)
c.1574T>C (p.Leu525Pro)
c.1379T>C (p.Leu460Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242543A>TCA392377246HDCc.1706T>A (p.Leu569Gln)
c.1607T>A (p.Leu536Gln)
n.1450T>A
c.1469T>A (p.Leu490Gln)
c.1274T>A (p.Leu425Gln)
c.1811T>A (p.Leu604Gln)
c.1712T>A (p.Leu571Gln)
c.1583T>A (p.Leu528Gln)
c.1574T>A (p.Leu525Gln)
c.1379T>A (p.Leu460Gln)
15g.50242544G>ACA490314213HDCc.1705C>T (p.Leu569=)
c.1606C>T (p.Leu536=)
n.1449C>T
c.1468C>T (p.Leu490=)
c.1273C>T (p.Leu425=)
c.1810C>T (p.Leu604=)
c.1711C>T (p.Leu571=)
c.1582C>T (p.Leu528=)
c.1573C>T (p.Leu525=)
c.1378C>T (p.Leu460=)
15g.50242544G>CCA392377248HDCc.1705C>G (p.Leu569Val)
c.1606C>G (p.Leu536Val)
n.1449C>G
c.1468C>G (p.Leu490Val)
c.1273C>G (p.Leu425Val)
c.1810C>G (p.Leu604Val)
c.1711C>G (p.Leu571Val)
c.1582C>G (p.Leu528Val)
c.1573C>G (p.Leu525Val)
c.1378C>G (p.Leu460Val)
15g.50242544G>TCA392377249HDCc.1705C>A (p.Leu569Met)
c.1606C>A (p.Leu536Met)
n.1449C>A
c.1468C>A (p.Leu490Met)
c.1273C>A (p.Leu425Met)
c.1810C>A (p.Leu604Met)
c.1711C>A (p.Leu571Met)
c.1582C>A (p.Leu528Met)
c.1573C>A (p.Leu525Met)
c.1378C>A (p.Leu460Met)
15g.50242545G>ACA7554511HDCc.1704C>T (p.Phe568=)
c.1605C>T (p.Phe535=)
n.1448C>T
c.1467C>T (p.Phe489=)
c.1272C>T (p.Phe424=)
c.1809C>T (p.Phe603=)
c.1710C>T (p.Phe570=)
c.1581C>T (p.Phe527=)
c.1572C>T (p.Phe524=)
c.1377C>T (p.Phe459=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242545G>CCA392377250HDCc.1704C>G (p.Phe568Leu)
c.1605C>G (p.Phe535Leu)
n.1448C>G
c.1467C>G (p.Phe489Leu)
c.1272C>G (p.Phe424Leu)
c.1809C>G (p.Phe603Leu)
c.1710C>G (p.Phe570Leu)
c.1581C>G (p.Phe527Leu)
c.1572C>G (p.Phe524Leu)
c.1377C>G (p.Phe459Leu)
15g.50242545G=CA2176326634HDCc.1704C= (p.Phe568=)
c.1605C= (p.Phe535=)
n.1448C=
c.1467C= (p.Phe489=)
c.1272C= (p.Phe424=)
c.1809C= (p.Phe603=)
c.1710C= (p.Phe570=)
c.1581C= (p.Phe527=)
c.1572C= (p.Phe524=)
c.1377C= (p.Phe459=)
15g.50242545G>TCA392377251HDCc.1704C>A (p.Phe568Leu)
c.1605C>A (p.Phe535Leu)
n.1448C>A
c.1467C>A (p.Phe489Leu)
c.1272C>A (p.Phe424Leu)
c.1809C>A (p.Phe603Leu)
c.1710C>A (p.Phe570Leu)
c.1581C>A (p.Phe527Leu)
c.1572C>A (p.Phe524Leu)
c.1377C>A (p.Phe459Leu)
15g.50242546A=CA2176326636HDCc.1703T= (p.Phe568=)
c.1604T= (p.Phe535=)
n.1447T=
c.1466T= (p.Phe489=)
c.1271T= (p.Phe424=)
c.1808T= (p.Phe603=)
c.1709T= (p.Phe570=)
c.1580T= (p.Phe527=)
c.1571T= (p.Phe524=)
c.1376T= (p.Phe459=)
15g.50242546A>CCA392377252HDCc.1703T>G (p.Phe568Cys)
c.1604T>G (p.Phe535Cys)
n.1447T>G
c.1466T>G (p.Phe489Cys)
c.1271T>G (p.Phe424Cys)
c.1808T>G (p.Phe603Cys)
c.1709T>G (p.Phe570Cys)
c.1580T>G (p.Phe527Cys)
c.1571T>G (p.Phe524Cys)
c.1376T>G (p.Phe459Cys)
15g.50242546A>GCA392377253HDCc.1703T>C (p.Phe568Ser)
c.1604T>C (p.Phe535Ser)
n.1447T>C
c.1466T>C (p.Phe489Ser)
c.1271T>C (p.Phe424Ser)
c.1808T>C (p.Phe603Ser)
c.1709T>C (p.Phe570Ser)
c.1580T>C (p.Phe527Ser)
c.1571T>C (p.Phe524Ser)
c.1376T>C (p.Phe459Ser)
15g.50242546A>TCA7554513HDCc.1703T>A (p.Phe568Tyr)
c.1604T>A (p.Phe535Tyr)
n.1447T>A
c.1466T>A (p.Phe489Tyr)
c.1271T>A (p.Phe424Tyr)
c.1808T>A (p.Phe603Tyr)
c.1709T>A (p.Phe570Tyr)
c.1580T>A (p.Phe527Tyr)
c.1571T>A (p.Phe524Tyr)
c.1376T>A (p.Phe459Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242546_50242549delinsAAGGCA2176326635HDCc.1700_1703delinsCCTT (p.Ser567=)
c.1601_1604delinsCCTT (p.Ser534=)
n.1444_1447delinsCCTT
c.1463_1466delinsCCTT (p.Ser488=)
c.1268_1271delinsCCTT (p.Ser423=)
c.1805_1808delinsCCTT (p.Ser602=)
c.1706_1709delinsCCTT (p.Ser569=)
c.1577_1580delinsCCTT (p.Ser526=)
c.1568_1571delinsCCTT (p.Ser523=)
c.1373_1376delinsCCTT (p.Ser458=)
15g.50242547A>CCA392377254HDCc.1702T>G (p.Phe568Val)
c.1603T>G (p.Phe535Val)
n.1446T>G
c.1465T>G (p.Phe489Val)
c.1270T>G (p.Phe424Val)
c.1807T>G (p.Phe603Val)
c.1708T>G (p.Phe570Val)
c.1579T>G (p.Phe527Val)
c.1570T>G (p.Phe524Val)
c.1375T>G (p.Phe459Val)
15g.50242547A>GCA392377255HDCc.1702T>C (p.Phe568Leu)
c.1603T>C (p.Phe535Leu)
n.1446T>C
c.1465T>C (p.Phe489Leu)
c.1270T>C (p.Phe424Leu)
c.1807T>C (p.Phe603Leu)
c.1708T>C (p.Phe570Leu)
c.1579T>C (p.Phe527Leu)
c.1570T>C (p.Phe524Leu)
c.1375T>C (p.Phe459Leu)
15g.50242547A>TCA392377256HDCc.1702T>A (p.Phe568Ile)
c.1603T>A (p.Phe535Ile)
n.1446T>A
c.1465T>A (p.Phe489Ile)
c.1270T>A (p.Phe424Ile)
c.1807T>A (p.Phe603Ile)
c.1708T>A (p.Phe570Ile)
c.1579T>A (p.Phe527Ile)
c.1570T>A (p.Phe524Ile)
c.1375T>A (p.Phe459Ile)
15g.50242551_50242553delCA7554512HDCc.1700_1702del (p.Ser567del)
c.1601_1603del (p.Ser534del)
n.1444_1446del
c.1463_1465del (p.Ser488del)
c.1268_1270del (p.Ser423del)
c.1805_1807del (p.Ser602del)
c.1706_1708del (p.Ser569del)
c.1577_1579del (p.Ser526del)
c.1568_1570del (p.Ser523del)
c.1373_1375del (p.Ser458del)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242548G>ACA490314215HDCc.1701C>T (p.Ser567=)
c.1602C>T (p.Ser534=)
n.1445C>T
c.1464C>T (p.Ser488=)
c.1269C>T (p.Ser423=)
c.1806C>T (p.Ser602=)
c.1707C>T (p.Ser569=)
c.1578C>T (p.Ser526=)
c.1569C>T (p.Ser523=)
c.1374C>T (p.Ser458=)
COSMIC
15g.50242548G>CCA490314216HDCc.1701C>G (p.Ser567=)
c.1602C>G (p.Ser534=)
n.1445C>G
c.1464C>G (p.Ser488=)
c.1269C>G (p.Ser423=)
c.1806C>G (p.Ser602=)
c.1707C>G (p.Ser569=)
c.1578C>G (p.Ser526=)
c.1569C>G (p.Ser523=)
c.1374C>G (p.Ser458=)
dbSNP gnomAD v4
15g.50242548G=CA2176326637HDCc.1701C= (p.Ser567=)
c.1602C= (p.Ser534=)
n.1445C=
c.1464C= (p.Ser488=)
c.1269C= (p.Ser423=)
c.1806C= (p.Ser602=)
c.1707C= (p.Ser569=)
c.1578C= (p.Ser526=)
c.1569C= (p.Ser523=)
c.1374C= (p.Ser458=)
15g.50242548G>TCA490314217HDCc.1701C>A (p.Ser567=)
c.1602C>A (p.Ser534=)
n.1445C>A
c.1464C>A (p.Ser488=)
c.1269C>A (p.Ser423=)
c.1806C>A (p.Ser602=)
c.1707C>A (p.Ser569=)
c.1578C>A (p.Ser526=)
c.1569C>A (p.Ser523=)
c.1374C>A (p.Ser458=)
15g.50242549G>ACA392377258HDCc.1700C>T (p.Ser567Phe)
c.1601C>T (p.Ser534Phe)
n.1444C>T
c.1463C>T (p.Ser488Phe)
c.1268C>T (p.Ser423Phe)
c.1805C>T (p.Ser602Phe)
c.1706C>T (p.Ser569Phe)
c.1577C>T (p.Ser526Phe)
c.1568C>T (p.Ser523Phe)
c.1373C>T (p.Ser458Phe)
15g.50242549G>CCA392377259HDCc.1700C>G (p.Ser567Cys)
c.1601C>G (p.Ser534Cys)
n.1444C>G
c.1463C>G (p.Ser488Cys)
c.1268C>G (p.Ser423Cys)
c.1805C>G (p.Ser602Cys)
c.1706C>G (p.Ser569Cys)
c.1577C>G (p.Ser526Cys)
c.1568C>G (p.Ser523Cys)
c.1373C>G (p.Ser458Cys)
15g.50242549G>TCA392377257HDCc.1700C>A (p.Ser567Tyr)
c.1601C>A (p.Ser534Tyr)
n.1444C>A
c.1463C>A (p.Ser488Tyr)
c.1268C>A (p.Ser423Tyr)
c.1805C>A (p.Ser602Tyr)
c.1706C>A (p.Ser569Tyr)
c.1577C>A (p.Ser526Tyr)
c.1568C>A (p.Ser523Tyr)
c.1373C>A (p.Ser458Tyr)
15g.50242549_50242557dupCA618010229HDCc.1692_1700dup (p.Ser567_Phe568insLeuSerSer)
c.1593_1601dup (p.Ser534_Phe535insLeuSerSer)
n.1436_1444dup
c.1455_1463dup (p.Ser488_Phe489insLeuSerSer)
c.1260_1268dup (p.Ser423_Phe424insLeuSerSer)
c.1797_1805dup (p.Ser602_Phe603insLeuSerSer)
c.1698_1706dup (p.Ser569_Phe570insLeuSerSer)
c.1569_1577dup (p.Ser526_Phe527insLeuSerSer)
c.1560_1568dup (p.Ser523_Phe524insLeuSerSer)
c.1365_1373dup (p.Ser458_Phe459insLeuSerSer)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.50242550A>CCA392377260HDCc.1699T>G (p.Ser567Ala)
c.1600T>G (p.Ser534Ala)
n.1443T>G
c.1462T>G (p.Ser488Ala)
c.1267T>G (p.Ser423Ala)
c.1804T>G (p.Ser602Ala)
c.1705T>G (p.Ser569Ala)
c.1576T>G (p.Ser526Ala)
c.1567T>G (p.Ser523Ala)
c.1372T>G (p.Ser458Ala)
15g.50242550A>GCA392377261HDCc.1699T>C (p.Ser567Pro)
c.1600T>C (p.Ser534Pro)
n.1443T>C
c.1462T>C (p.Ser488Pro)
c.1267T>C (p.Ser423Pro)
c.1804T>C (p.Ser602Pro)
c.1705T>C (p.Ser569Pro)
c.1576T>C (p.Ser526Pro)
c.1567T>C (p.Ser523Pro)
c.1372T>C (p.Ser458Pro)
15g.50242550A>TCA392377262HDCc.1699T>A (p.Ser567Thr)
c.1600T>A (p.Ser534Thr)
n.1443T>A
c.1462T>A (p.Ser488Thr)
c.1267T>A (p.Ser423Thr)
c.1804T>A (p.Ser602Thr)
c.1705T>A (p.Ser569Thr)
c.1576T>A (p.Ser526Thr)
c.1567T>A (p.Ser523Thr)
c.1372T>A (p.Ser458Thr)
15g.50242551G>ACA490314220HDCc.1698C>T (p.Ser566=)
c.1599C>T (p.Ser533=)
n.1442C>T
c.1461C>T (p.Ser487=)
c.1266C>T (p.Ser422=)
c.1803C>T (p.Ser601=)
c.1704C>T (p.Ser568=)
c.1575C>T (p.Ser525=)
c.1566C>T (p.Ser522=)
c.1371C>T (p.Ser457=)
dbSNP COSMIC
15g.50242551G>CCA490314221HDCc.1698C>G (p.Ser566=)
c.1599C>G (p.Ser533=)
n.1442C>G
c.1461C>G (p.Ser487=)
c.1266C>G (p.Ser422=)
c.1803C>G (p.Ser601=)
c.1704C>G (p.Ser568=)
c.1575C>G (p.Ser525=)
c.1566C>G (p.Ser522=)
c.1371C>G (p.Ser457=)
15g.50242551G=CA2176326638HDCc.1698C= (p.Ser566=)
c.1599C= (p.Ser533=)
n.1442C=
c.1461C= (p.Ser487=)
c.1266C= (p.Ser422=)
c.1803C= (p.Ser601=)
c.1704C= (p.Ser568=)
c.1575C= (p.Ser525=)
c.1566C= (p.Ser522=)
c.1371C= (p.Ser457=)
15g.50242551G>TCA490314223HDCc.1698C>A (p.Ser566=)
c.1599C>A (p.Ser533=)
n.1442C>A
c.1461C>A (p.Ser487=)
c.1266C>A (p.Ser422=)
c.1803C>A (p.Ser601=)
c.1704C>A (p.Ser568=)
c.1575C>A (p.Ser525=)
c.1566C>A (p.Ser522=)
c.1371C>A (p.Ser457=)
15g.50242552G>ACA7554514HDCc.1697C>T (p.Ser566Phe)
c.1598C>T (p.Ser533Phe)
n.1441C>T
c.1460C>T (p.Ser487Phe)
c.1265C>T (p.Ser422Phe)
c.1802C>T (p.Ser601Phe)
c.1703C>T (p.Ser568Phe)
c.1574C>T (p.Ser525Phe)
c.1565C>T (p.Ser522Phe)
c.1370C>T (p.Ser457Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242552G>CCA392377263HDCc.1697C>G (p.Ser566Cys)
c.1598C>G (p.Ser533Cys)
n.1441C>G
c.1460C>G (p.Ser487Cys)
c.1265C>G (p.Ser422Cys)
c.1802C>G (p.Ser601Cys)
c.1703C>G (p.Ser568Cys)
c.1574C>G (p.Ser525Cys)
c.1565C>G (p.Ser522Cys)
c.1370C>G (p.Ser457Cys)
15g.50242552G=CA2176326639HDCc.1697C= (p.Ser566=)
c.1598C= (p.Ser533=)
n.1441C=
c.1460C= (p.Ser487=)
c.1265C= (p.Ser422=)
c.1802C= (p.Ser601=)
c.1703C= (p.Ser568=)
c.1574C= (p.Ser525=)
c.1565C= (p.Ser522=)
c.1370C= (p.Ser457=)
15g.50242552G>TCA392377264HDCc.1697C>A (p.Ser566Tyr)
c.1598C>A (p.Ser533Tyr)
n.1441C>A
c.1460C>A (p.Ser487Tyr)
c.1265C>A (p.Ser422Tyr)
c.1802C>A (p.Ser601Tyr)
c.1703C>A (p.Ser568Tyr)
c.1574C>A (p.Ser525Tyr)
c.1565C>A (p.Ser522Tyr)
c.1370C>A (p.Ser457Tyr)
15g.50242553A>CCA392377265HDCc.1696T>G (p.Ser566Ala)
c.1597T>G (p.Ser533Ala)
n.1440T>G
c.1459T>G (p.Ser487Ala)
c.1264T>G (p.Ser422Ala)
c.1801T>G (p.Ser601Ala)
c.1702T>G (p.Ser568Ala)
c.1573T>G (p.Ser525Ala)
c.1564T>G (p.Ser522Ala)
c.1369T>G (p.Ser457Ala)
15g.50242553A>GCA392377267HDCc.1696T>C (p.Ser566Pro)
c.1597T>C (p.Ser533Pro)
n.1440T>C
c.1459T>C (p.Ser487Pro)
c.1264T>C (p.Ser422Pro)
c.1801T>C (p.Ser601Pro)
c.1702T>C (p.Ser568Pro)
c.1573T>C (p.Ser525Pro)
c.1564T>C (p.Ser522Pro)
c.1369T>C (p.Ser457Pro)
15g.50242553A>TCA392377266HDCc.1696T>A (p.Ser566Thr)
c.1597T>A (p.Ser533Thr)
n.1440T>A
c.1459T>A (p.Ser487Thr)
c.1264T>A (p.Ser422Thr)
c.1801T>A (p.Ser601Thr)
c.1702T>A (p.Ser568Thr)
c.1573T>A (p.Ser525Thr)
c.1564T>A (p.Ser522Thr)
c.1369T>A (p.Ser457Thr)
15g.50242554C>ACA490314224HDCc.1695G>T (p.Leu565=)
c.1596G>T (p.Leu532=)
n.1439G>T
c.1458G>T (p.Leu486=)
c.1263G>T (p.Leu421=)
c.1800G>T (p.Leu600=)
c.1701G>T (p.Leu567=)
c.1572G>T (p.Leu524=)
c.1563G>T (p.Leu521=)
c.1368G>T (p.Leu456=)
dbSNP gnomAD v4
15g.50242554C=CA2176326640HDCc.1695G= (p.Leu565=)
c.1596G= (p.Leu532=)
n.1439G=
c.1458G= (p.Leu486=)
c.1263G= (p.Leu421=)
c.1800G= (p.Leu600=)
c.1701G= (p.Leu567=)
c.1572G= (p.Leu524=)
c.1563G= (p.Leu521=)
c.1368G= (p.Leu456=)
15g.50242554C>GCA490314225HDCc.1695G>C (p.Leu565=)
c.1596G>C (p.Leu532=)
n.1439G>C
c.1458G>C (p.Leu486=)
c.1263G>C (p.Leu421=)
c.1800G>C (p.Leu600=)
c.1701G>C (p.Leu567=)
c.1572G>C (p.Leu524=)
c.1563G>C (p.Leu521=)
c.1368G>C (p.Leu456=)
15g.50242554C>TCA490314226HDCc.1695G>A (p.Leu565=)
c.1596G>A (p.Leu532=)
n.1439G>A
c.1458G>A (p.Leu486=)
c.1263G>A (p.Leu421=)
c.1800G>A (p.Leu600=)
c.1701G>A (p.Leu567=)
c.1572G>A (p.Leu524=)
c.1563G>A (p.Leu521=)
c.1368G>A (p.Leu456=)
15g.50242555A>CCA392377268HDCc.1694T>G (p.Leu565Arg)
c.1595T>G (p.Leu532Arg)
n.1438T>G
c.1457T>G (p.Leu486Arg)
c.1262T>G (p.Leu421Arg)
c.1799T>G (p.Leu600Arg)
c.1700T>G (p.Leu567Arg)
c.1571T>G (p.Leu524Arg)
c.1562T>G (p.Leu521Arg)
c.1367T>G (p.Leu456Arg)
15g.50242555A>GCA392377269HDCc.1694T>C (p.Leu565Pro)
c.1595T>C (p.Leu532Pro)
n.1438T>C
c.1457T>C (p.Leu486Pro)
c.1262T>C (p.Leu421Pro)
c.1799T>C (p.Leu600Pro)
c.1700T>C (p.Leu567Pro)
c.1571T>C (p.Leu524Pro)
c.1562T>C (p.Leu521Pro)
c.1367T>C (p.Leu456Pro)
15g.50242555A>TCA392377270HDCc.1694T>A (p.Leu565Gln)
c.1595T>A (p.Leu532Gln)
n.1438T>A
c.1457T>A (p.Leu486Gln)
c.1262T>A (p.Leu421Gln)
c.1799T>A (p.Leu600Gln)
c.1700T>A (p.Leu567Gln)
c.1571T>A (p.Leu524Gln)
c.1562T>A (p.Leu521Gln)
c.1367T>A (p.Leu456Gln)
15g.50242556G>ACA490314230HDCc.1693C>T (p.Leu565=)
c.1594C>T (p.Leu532=)
n.1437C>T
c.1456C>T (p.Leu486=)
c.1261C>T (p.Leu421=)
c.1798C>T (p.Leu600=)
c.1699C>T (p.Leu567=)
c.1570C>T (p.Leu524=)
c.1561C>T (p.Leu521=)
c.1366C>T (p.Leu456=)
dbSNP gnomAD v2
15g.50242556G>CCA392377271HDCc.1693C>G (p.Leu565Val)
c.1594C>G (p.Leu532Val)
n.1437C>G
c.1456C>G (p.Leu486Val)
c.1261C>G (p.Leu421Val)
c.1798C>G (p.Leu600Val)
c.1699C>G (p.Leu567Val)
c.1570C>G (p.Leu524Val)
c.1561C>G (p.Leu521Val)
c.1366C>G (p.Leu456Val)
15g.50242556G=CA2176326641HDCc.1693C= (p.Leu565=)
c.1594C= (p.Leu532=)
n.1437C=
c.1456C= (p.Leu486=)
c.1261C= (p.Leu421=)
c.1798C= (p.Leu600=)
c.1699C= (p.Leu567=)
c.1570C= (p.Leu524=)
c.1561C= (p.Leu521=)
c.1366C= (p.Leu456=)
15g.50242556G>TCA392377272HDCc.1693C>A (p.Leu565Met)
c.1594C>A (p.Leu532Met)
n.1437C>A
c.1456C>A (p.Leu486Met)
c.1261C>A (p.Leu421Met)
c.1798C>A (p.Leu600Met)
c.1699C>A (p.Leu567Met)
c.1570C>A (p.Leu524Met)
c.1561C>A (p.Leu521Met)
c.1366C>A (p.Leu456Met)
15g.50242557C>ACA392377273HDCc.1692G>T (p.Lys564Asn)
c.1593G>T (p.Lys531Asn)
n.1436G>T
c.1455G>T (p.Lys485Asn)
c.1260G>T (p.Lys420Asn)
c.1797G>T (p.Lys599Asn)
c.1698G>T (p.Lys566Asn)
c.1569G>T (p.Lys523Asn)
c.1560G>T (p.Lys520Asn)
c.1365G>T (p.Lys455Asn)
15g.50242557C>GCA392377274HDCc.1692G>C (p.Lys564Asn)
c.1593G>C (p.Lys531Asn)
n.1436G>C
c.1455G>C (p.Lys485Asn)
c.1260G>C (p.Lys420Asn)
c.1797G>C (p.Lys599Asn)
c.1698G>C (p.Lys566Asn)
c.1569G>C (p.Lys523Asn)
c.1560G>C (p.Lys520Asn)
c.1365G>C (p.Lys455Asn)
15g.50242557C>TCA490314231HDCc.1692G>A (p.Lys564=)
c.1593G>A (p.Lys531=)
n.1436G>A
c.1455G>A (p.Lys485=)
c.1260G>A (p.Lys420=)
c.1797G>A (p.Lys599=)
c.1698G>A (p.Lys566=)
c.1569G>A (p.Lys523=)
c.1560G>A (p.Lys520=)
c.1365G>A (p.Lys455=)
gnomAD v4
15g.50242558T>ACA392377275HDCc.1691A>T (p.Lys564Met)
c.1592A>T (p.Lys531Met)
n.1435A>T
c.1454A>T (p.Lys485Met)
c.1259A>T (p.Lys420Met)
c.1796A>T (p.Lys599Met)
c.1697A>T (p.Lys566Met)
c.1568A>T (p.Lys523Met)
c.1559A>T (p.Lys520Met)
c.1364A>T (p.Lys455Met)
15g.50242558T>CCA392377277HDCc.1691A>G (p.Lys564Arg)
c.1592A>G (p.Lys531Arg)
n.1435A>G
c.1454A>G (p.Lys485Arg)
c.1259A>G (p.Lys420Arg)
c.1796A>G (p.Lys599Arg)
c.1697A>G (p.Lys566Arg)
c.1568A>G (p.Lys523Arg)
c.1559A>G (p.Lys520Arg)
c.1364A>G (p.Lys455Arg)
COSMIC
15g.50242558T>GCA392377276HDCc.1691A>C (p.Lys564Thr)
c.1592A>C (p.Lys531Thr)
n.1435A>C
c.1454A>C (p.Lys485Thr)
c.1259A>C (p.Lys420Thr)
c.1796A>C (p.Lys599Thr)
c.1697A>C (p.Lys566Thr)
c.1568A>C (p.Lys523Thr)
c.1559A>C (p.Lys520Thr)
c.1364A>C (p.Lys455Thr)
15g.50242559T>ACA392377278HDCc.1690A>T (p.Lys564Ter)
c.1591A>T (p.Lys531Ter)
n.1434A>T
c.1453A>T (p.Lys485Ter)
c.1258A>T (p.Lys420Ter)
c.1795A>T (p.Lys599Ter)
c.1696A>T (p.Lys566Ter)
c.1567A>T (p.Lys523Ter)
c.1558A>T (p.Lys520Ter)
c.1363A>T (p.Lys455Ter)
15g.50242559T>CCA392377279HDCc.1690A>G (p.Lys564Glu)
c.1591A>G (p.Lys531Glu)
n.1434A>G
c.1453A>G (p.Lys485Glu)
c.1258A>G (p.Lys420Glu)
c.1795A>G (p.Lys599Glu)
c.1696A>G (p.Lys566Glu)
c.1567A>G (p.Lys523Glu)
c.1558A>G (p.Lys520Glu)
c.1363A>G (p.Lys455Glu)
15g.50242559T>GCA392377280HDCc.1690A>C (p.Lys564Gln)
c.1591A>C (p.Lys531Gln)
n.1434A>C
c.1453A>C (p.Lys485Gln)
c.1258A>C (p.Lys420Gln)
c.1795A>C (p.Lys599Gln)
c.1696A>C (p.Lys566Gln)
c.1567A>C (p.Lys523Gln)
c.1558A>C (p.Lys520Gln)
c.1363A>C (p.Lys455Gln)
15g.50242560G>ACA490314232HDCc.1689C>T (p.His563=)
c.1590C>T (p.His530=)
n.1433C>T
c.1452C>T (p.His484=)
c.1257C>T (p.His419=)
c.1794C>T (p.His598=)
c.1695C>T (p.His565=)
c.1566C>T (p.His522=)
c.1557C>T (p.His519=)
c.1362C>T (p.His454=)
gnomAD v4
15g.50242560G>CCA392377281HDCc.1689C>G (p.His563Gln)
c.1590C>G (p.His530Gln)
n.1433C>G
c.1452C>G (p.His484Gln)
c.1257C>G (p.His419Gln)
c.1794C>G (p.His598Gln)
c.1695C>G (p.His565Gln)
c.1566C>G (p.His522Gln)
c.1557C>G (p.His519Gln)
c.1362C>G (p.His454Gln)
15g.50242560G>TCA392377282HDCc.1689C>A (p.His563Gln)
c.1590C>A (p.His530Gln)
n.1433C>A
c.1452C>A (p.His484Gln)
c.1257C>A (p.His419Gln)
c.1794C>A (p.His598Gln)
c.1695C>A (p.His565Gln)
c.1566C>A (p.His522Gln)
c.1557C>A (p.His519Gln)
c.1362C>A (p.His454Gln)
15g.50242561T>ACA7554515HDCc.1688A>T (p.His563Leu)
c.1589A>T (p.His530Leu)
n.1432A>T
c.1451A>T (p.His484Leu)
c.1256A>T (p.His419Leu)
c.1793A>T (p.His598Leu)
c.1694A>T (p.His565Leu)
c.1565A>T (p.His522Leu)
c.1556A>T (p.His519Leu)
c.1361A>T (p.His454Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242561T>CCA392377283HDCc.1688A>G (p.His563Arg)
c.1589A>G (p.His530Arg)
n.1432A>G
c.1451A>G (p.His484Arg)
c.1256A>G (p.His419Arg)
c.1793A>G (p.His598Arg)
c.1694A>G (p.His565Arg)
c.1565A>G (p.His522Arg)
c.1556A>G (p.His519Arg)
c.1361A>G (p.His454Arg)
gnomAD v4
15g.50242561T>GCA392377284HDCc.1688A>C (p.His563Pro)
c.1589A>C (p.His530Pro)
n.1432A>C
c.1451A>C (p.His484Pro)
c.1256A>C (p.His419Pro)
c.1793A>C (p.His598Pro)
c.1694A>C (p.His565Pro)
c.1565A>C (p.His522Pro)
c.1556A>C (p.His519Pro)
c.1361A>C (p.His454Pro)
15g.50242561T=CA2176326642HDCc.1688A= (p.His563=)
c.1589A= (p.His530=)
n.1432A=
c.1451A= (p.His484=)
c.1256A= (p.His419=)
c.1793A= (p.His598=)
c.1694A= (p.His565=)
c.1565A= (p.His522=)
c.1556A= (p.His519=)
c.1361A= (p.His454=)
15g.50242562G>ACA392377285HDCc.1687C>T (p.His563Tyr)
c.1588C>T (p.His530Tyr)
n.1431C>T
c.1450C>T (p.His484Tyr)
c.1255C>T (p.His419Tyr)
c.1792C>T (p.His598Tyr)
c.1693C>T (p.His565Tyr)
c.1564C>T (p.His522Tyr)
c.1555C>T (p.His519Tyr)
c.1360C>T (p.His454Tyr)
15g.50242562G>CCA392377286HDCc.1687C>G (p.His563Asp)
c.1588C>G (p.His530Asp)
n.1431C>G
c.1450C>G (p.His484Asp)
c.1255C>G (p.His419Asp)
c.1792C>G (p.His598Asp)
c.1693C>G (p.His565Asp)
c.1564C>G (p.His522Asp)
c.1555C>G (p.His519Asp)
c.1360C>G (p.His454Asp)
15g.50242562G=CA2176326643HDCc.1687C= (p.His563=)
c.1588C= (p.His530=)
n.1431C=
c.1450C= (p.His484=)
c.1255C= (p.His419=)
c.1792C= (p.His598=)
c.1693C= (p.His565=)
c.1564C= (p.His522=)
c.1555C= (p.His519=)
c.1360C= (p.His454=)
15g.50242562G>TCA392377287HDCc.1687C>A (p.His563Asn)
c.1588C>A (p.His530Asn)
n.1431C>A
c.1450C>A (p.His484Asn)
c.1255C>A (p.His419Asn)
c.1792C>A (p.His598Asn)
c.1693C>A (p.His565Asn)
c.1564C>A (p.His522Asn)
c.1555C>A (p.His519Asn)
c.1360C>A (p.His454Asn)
dbSNP
15g.50242563delCA2730790619HDCc.1686del (p.Lys562AsnfsTer?)
c.1587del (p.Lys529AsnfsTer?)
n.1430del
c.1449del (p.Lys483AsnfsTer?)
c.1254del (p.Lys418AsnfsTer?)
c.1791del (p.Lys597AsnfsTer?)
c.1692del (p.Lys564AsnfsTer?)
c.1563del (p.Lys521AsnfsTer?)
c.1554del (p.Lys518AsnfsTer?)
c.1359del (p.Lys453AsnfsTer?)
dbSNP
15g.50242563C>ACA392377288HDCc.1686G>T (p.Lys562Asn)
c.1587G>T (p.Lys529Asn)
n.1430G>T
c.1449G>T (p.Lys483Asn)
c.1254G>T (p.Lys418Asn)
c.1791G>T (p.Lys597Asn)
c.1692G>T (p.Lys564Asn)
c.1563G>T (p.Lys521Asn)
c.1554G>T (p.Lys518Asn)
c.1359G>T (p.Lys453Asn)
15g.50242563C>GCA392377289HDCc.1686G>C (p.Lys562Asn)
c.1587G>C (p.Lys529Asn)
n.1430G>C
c.1449G>C (p.Lys483Asn)
c.1254G>C (p.Lys418Asn)
c.1791G>C (p.Lys597Asn)
c.1692G>C (p.Lys564Asn)
c.1563G>C (p.Lys521Asn)
c.1554G>C (p.Lys518Asn)
c.1359G>C (p.Lys453Asn)
15g.50242563C>TCA490314233HDCc.1686G>A (p.Lys562=)
c.1587G>A (p.Lys529=)
n.1430G>A
c.1449G>A (p.Lys483=)
c.1254G>A (p.Lys418=)
c.1791G>A (p.Lys597=)
c.1692G>A (p.Lys564=)
c.1563G>A (p.Lys521=)
c.1554G>A (p.Lys518=)
c.1359G>A (p.Lys453=)
15g.50242564T>ACA392377291HDCc.1685A>T (p.Lys562Met)
c.1586A>T (p.Lys529Met)
n.1429A>T
c.1448A>T (p.Lys483Met)
c.1253A>T (p.Lys418Met)
c.1790A>T (p.Lys597Met)
c.1691A>T (p.Lys564Met)
c.1562A>T (p.Lys521Met)
c.1553A>T (p.Lys518Met)
c.1358A>T (p.Lys453Met)
15g.50242564T>CCA392377290HDCc.1685A>G (p.Lys562Arg)
c.1586A>G (p.Lys529Arg)
n.1429A>G
c.1448A>G (p.Lys483Arg)
c.1253A>G (p.Lys418Arg)
c.1790A>G (p.Lys597Arg)
c.1691A>G (p.Lys564Arg)
c.1562A>G (p.Lys521Arg)
c.1553A>G (p.Lys518Arg)
c.1358A>G (p.Lys453Arg)
15g.50242564T>GCA270414018HDCc.1685A>C (p.Lys562Thr)
c.1586A>C (p.Lys529Thr)
n.1429A>C
c.1448A>C (p.Lys483Thr)
c.1253A>C (p.Lys418Thr)
c.1790A>C (p.Lys597Thr)
c.1691A>C (p.Lys564Thr)
c.1562A>C (p.Lys521Thr)
c.1553A>C (p.Lys518Thr)
c.1358A>C (p.Lys453Thr)
dbSNP
15g.50242564T=CA2176326644HDCc.1685A= (p.Lys562=)
c.1586A= (p.Lys529=)
n.1429A=
c.1448A= (p.Lys483=)
c.1253A= (p.Lys418=)
c.1790A= (p.Lys597=)
c.1691A= (p.Lys564=)
c.1562A= (p.Lys521=)
c.1553A= (p.Lys518=)
c.1358A= (p.Lys453=)
15g.50242565T>ACA392377292HDCc.1684A>T (p.Lys562Ter)
c.1585A>T (p.Lys529Ter)
n.1428A>T
c.1447A>T (p.Lys483Ter)
c.1252A>T (p.Lys418Ter)
c.1789A>T (p.Lys597Ter)
c.1690A>T (p.Lys564Ter)
c.1561A>T (p.Lys521Ter)
c.1552A>T (p.Lys518Ter)
c.1357A>T (p.Lys453Ter)
15g.50242565T>CCA392377293HDCc.1684A>G (p.Lys562Glu)
c.1585A>G (p.Lys529Glu)
n.1428A>G
c.1447A>G (p.Lys483Glu)
c.1252A>G (p.Lys418Glu)
c.1789A>G (p.Lys597Glu)
c.1690A>G (p.Lys564Glu)
c.1561A>G (p.Lys521Glu)
c.1552A>G (p.Lys518Glu)
c.1357A>G (p.Lys453Glu)
15g.50242565T>GCA392377294HDCc.1684A>C (p.Lys562Gln)
c.1585A>C (p.Lys529Gln)
n.1428A>C
c.1447A>C (p.Lys483Gln)
c.1252A>C (p.Lys418Gln)
c.1789A>C (p.Lys597Gln)
c.1690A>C (p.Lys564Gln)
c.1561A>C (p.Lys521Gln)
c.1552A>C (p.Lys518Gln)
c.1357A>C (p.Lys453Gln)
15g.50242566G>ACA7554516HDCc.1683C>T (p.Thr561=)
c.1584C>T (p.Thr528=)
n.1427C>T
c.1446C>T (p.Thr482=)
c.1251C>T (p.Thr417=)
c.1788C>T (p.Thr596=)
c.1689C>T (p.Thr563=)
c.1560C>T (p.Thr520=)
c.1551C>T (p.Thr517=)
c.1356C>T (p.Thr452=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242566G>CCA7554517HDCc.1683C>G (p.Thr561=)
c.1584C>G (p.Thr528=)
n.1427C>G
c.1446C>G (p.Thr482=)
c.1251C>G (p.Thr417=)
c.1788C>G (p.Thr596=)
c.1689C>G (p.Thr563=)
c.1560C>G (p.Thr520=)
c.1551C>G (p.Thr517=)
c.1356C>G (p.Thr452=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242566G=CA2176326645HDCc.1683C= (p.Thr561=)
c.1584C= (p.Thr528=)
n.1427C=
c.1446C= (p.Thr482=)
c.1251C= (p.Thr417=)
c.1788C= (p.Thr596=)
c.1689C= (p.Thr563=)
c.1560C= (p.Thr520=)
c.1551C= (p.Thr517=)
c.1356C= (p.Thr452=)
15g.50242566G>TCA490314234HDCc.1683C>A (p.Thr561=)
c.1584C>A (p.Thr528=)
n.1427C>A
c.1446C>A (p.Thr482=)
c.1251C>A (p.Thr417=)
c.1788C>A (p.Thr596=)
c.1689C>A (p.Thr563=)
c.1560C>A (p.Thr520=)
c.1551C>A (p.Thr517=)
c.1356C>A (p.Thr452=)
15g.50242567G>ACA7554518HDCc.1682C>T (p.Thr561Ile)
c.1583C>T (p.Thr528Ile)
n.1426C>T
c.1445C>T (p.Thr482Ile)
c.1250C>T (p.Thr417Ile)
c.1787C>T (p.Thr596Ile)
c.1688C>T (p.Thr563Ile)
c.1559C>T (p.Thr520Ile)
c.1550C>T (p.Thr517Ile)
c.1355C>T (p.Thr452Ile)
dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
15g.50242567G>CCA392377295HDCc.1682C>G (p.Thr561Ser)
c.1583C>G (p.Thr528Ser)
n.1426C>G
c.1445C>G (p.Thr482Ser)
c.1250C>G (p.Thr417Ser)
c.1787C>G (p.Thr596Ser)
c.1688C>G (p.Thr563Ser)
c.1559C>G (p.Thr520Ser)
c.1550C>G (p.Thr517Ser)
c.1355C>G (p.Thr452Ser)
15g.50242567G=CA2176326646HDCc.1682C= (p.Thr561=)
c.1583C= (p.Thr528=)
n.1426C=
c.1445C= (p.Thr482=)
c.1250C= (p.Thr417=)
c.1787C= (p.Thr596=)
c.1688C= (p.Thr563=)
c.1559C= (p.Thr520=)
c.1550C= (p.Thr517=)
c.1355C= (p.Thr452=)
15g.50242567G>TCA392377296HDCc.1682C>A (p.Thr561Asn)
c.1583C>A (p.Thr528Asn)
n.1426C>A
c.1445C>A (p.Thr482Asn)
c.1250C>A (p.Thr417Asn)
c.1787C>A (p.Thr596Asn)
c.1688C>A (p.Thr563Asn)
c.1559C>A (p.Thr520Asn)
c.1550C>A (p.Thr517Asn)
c.1355C>A (p.Thr452Asn)
15g.50242568T>ACA392377297HDCc.1681A>T (p.Thr561Ser)
c.1582A>T (p.Thr528Ser)
n.1425A>T
c.1444A>T (p.Thr482Ser)
c.1249A>T (p.Thr417Ser)
c.1786A>T (p.Thr596Ser)
c.1687A>T (p.Thr563Ser)
c.1558A>T (p.Thr520Ser)
c.1549A>T (p.Thr517Ser)
c.1354A>T (p.Thr452Ser)
15g.50242568T>CCA392377298HDCc.1681A>G (p.Thr561Ala)
c.1582A>G (p.Thr528Ala)
n.1425A>G
c.1444A>G (p.Thr482Ala)
c.1249A>G (p.Thr417Ala)
c.1786A>G (p.Thr596Ala)
c.1687A>G (p.Thr563Ala)
c.1558A>G (p.Thr520Ala)
c.1549A>G (p.Thr517Ala)
c.1354A>G (p.Thr452Ala)
15g.50242568T>GCA392377299HDCc.1681A>C (p.Thr561Pro)
c.1582A>C (p.Thr528Pro)
n.1425A>C
c.1444A>C (p.Thr482Pro)
c.1249A>C (p.Thr417Pro)
c.1786A>C (p.Thr596Pro)
c.1687A>C (p.Thr563Pro)
c.1558A>C (p.Thr520Pro)
c.1549A>C (p.Thr517Pro)
c.1354A>C (p.Thr452Pro)

Number of alleles fetched