Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.77942719_77942723delCA658656943NEXNc.1918_1922del (p.Tyr640ThrfsTer14)
c.1726_1730del (p.Tyr576ThrfsTer14)
c.1617_1621del
n.757_761del
n.1492_1496del
c.1876_1880del (p.Tyr626ThrfsTer14)
c.1696_1700del (p.Tyr566ThrfsTer14)
c.1684_1688del (p.Tyr562ThrfsTer14)
c.1501_1505del (p.Tyr501ThrfsTer14)
ClinVar dbSNP gnomAD v4
1g.77942722T>ACA340883195NEXNc.1921T>A (p.Leu641Ile)
c.1729T>A (p.Leu577Ile)
c.1620T>A
n.760T>A
n.1495T>A
c.1879T>A (p.Leu627Ile)
c.1699T>A (p.Leu567Ile)
c.1687T>A (p.Leu563Ile)
c.1504T>A (p.Leu502Ile)
1g.77942722T>CCA418709767NEXNc.1921T>C (p.Leu641=)
c.1729T>C (p.Leu577=)
c.1620T>C
n.760T>C
n.1495T>C
c.1879T>C (p.Leu627=)
c.1699T>C (p.Leu567=)
c.1687T>C (p.Leu563=)
c.1504T>C (p.Leu502=)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.77942722T>GCA340883196NEXNc.1921T>G (p.Leu641Val)
c.1729T>G (p.Leu577Val)
c.1620T>G
n.760T>G
n.1495T>G
c.1879T>G (p.Leu627Val)
c.1699T>G (p.Leu567Val)
c.1687T>G (p.Leu563Val)
c.1504T>G (p.Leu502Val)
gnomAD v4
1g.77942722T=CA1177631451NEXNc.1921T= (p.Leu641=)
c.1729T= (p.Leu577=)
c.1620T=
n.760T=
n.1495T=
c.1879T= (p.Leu627=)
c.1699T= (p.Leu567=)
c.1687T= (p.Leu563=)
c.1504T= (p.Leu502=)
1g.77942723T>ACA340883197NEXNc.1922T>A (p.Leu641Ter)
c.1730T>A (p.Leu577Ter)
c.1621T>A
n.761T>A
n.1496T>A
c.1880T>A (p.Leu627Ter)
c.1700T>A (p.Leu567Ter)
c.1688T>A (p.Leu563Ter)
c.1505T>A (p.Leu502Ter)
1g.77942723T>CCA919008NEXNc.1922T>C (p.Leu641Ser)
c.1730T>C (p.Leu577Ser)
c.1621T>C
n.761T>C
n.1496T>C
c.1880T>C (p.Leu627Ser)
c.1700T>C (p.Leu567Ser)
c.1688T>C (p.Leu563Ser)
c.1505T>C (p.Leu502Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77942723T>GCA340883198NEXNc.1922T>G (p.Leu641Ter)
c.1730T>G (p.Leu577Ter)
c.1621T>G
n.761T>G
n.1496T>G
c.1880T>G (p.Leu627Ter)
c.1700T>G (p.Leu567Ter)
c.1688T>G (p.Leu563Ter)
c.1505T>G (p.Leu502Ter)
ClinVar
1g.77942723T=CA1177631452NEXNc.1922T= (p.Leu641=)
c.1730T= (p.Leu577=)
c.1621T=
n.761T=
n.1496T=
c.1880T= (p.Leu627=)
c.1700T= (p.Leu567=)
c.1688T= (p.Leu563=)
c.1505T= (p.Leu502=)
1g.77942724A>CCA340883199NEXNc.1923A>C (p.Leu641Phe)
c.1731A>C (p.Leu577Phe)
c.1622A>C
n.762A>C
n.1497A>C
c.1881A>C (p.Leu627Phe)
c.1701A>C (p.Leu567Phe)
c.1689A>C (p.Leu563Phe)
c.1506A>C (p.Leu502Phe)
1g.77942724A>GCA418709771NEXNc.1923A>G (p.Leu641=)
c.1731A>G (p.Leu577=)
c.1622A>G
n.762A>G
n.1497A>G
c.1881A>G (p.Leu627=)
c.1701A>G (p.Leu567=)
c.1689A>G (p.Leu563=)
c.1506A>G (p.Leu502=)
1g.77942724A>TCA340883200NEXNc.1923A>T (p.Leu641Phe)
c.1731A>T (p.Leu577Phe)
c.1622A>T
n.762A>T
n.1497A>T
c.1881A>T (p.Leu627Phe)
c.1701A>T (p.Leu567Phe)
c.1689A>T (p.Leu563Phe)
c.1506A>T (p.Leu502Phe)
1g.77942725C>ACA340883201NEXNc.1924C>A (p.Pro642Thr)
c.1732C>A (p.Pro578Thr)
c.1623C>A
n.763C>A
n.1498C>A
c.1882C>A (p.Pro628Thr)
c.1702C>A (p.Pro568Thr)
c.1690C>A (p.Pro564Thr)
c.1507C>A (p.Pro503Thr)
dbSNP gnomAD v3 gnomAD v4
1g.77942725C=CA1177631453NEXNc.1924C= (p.Pro642=)
c.1732C= (p.Pro578=)
c.1623C=
n.763C=
n.1498C=
c.1882C= (p.Pro628=)
c.1702C= (p.Pro568=)
c.1690C= (p.Pro564=)
c.1507C= (p.Pro503=)
1g.77942725C>GCA340883202NEXNc.1924C>G (p.Pro642Ala)
c.1732C>G (p.Pro578Ala)
c.1623C>G
n.763C>G
n.1498C>G
c.1882C>G (p.Pro628Ala)
c.1702C>G (p.Pro568Ala)
c.1690C>G (p.Pro564Ala)
c.1507C>G (p.Pro503Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.77942725C>TCA340883203NEXNc.1924C>T (p.Pro642Ser)
c.1732C>T (p.Pro578Ser)
c.1623C>T
n.763C>T
n.1498C>T
c.1882C>T (p.Pro628Ser)
c.1702C>T (p.Pro568Ser)
c.1690C>T (p.Pro564Ser)
c.1507C>T (p.Pro503Ser)
dbSNP gnomAD v4
1g.77942726C>ACA340883204NEXNc.1925C>A (p.Pro642Gln)
c.1733C>A (p.Pro578Gln)
c.1624C>A
n.764C>A
n.1499C>A
c.1883C>A (p.Pro628Gln)
c.1703C>A (p.Pro568Gln)
c.1691C>A (p.Pro564Gln)
c.1508C>A (p.Pro503Gln)
gnomAD v4
1g.77942726C>GCA16622160NEXNc.1925C>G (p.Pro642Arg)
c.1733C>G (p.Pro578Arg)
c.1624C>G
n.764C>G
n.1499C>G
c.1883C>G (p.Pro628Arg)
c.1703C>G (p.Pro568Arg)
c.1691C>G (p.Pro564Arg)
c.1508C>G (p.Pro503Arg)
gnomAD v4
1g.77942726C>TCA340883205NEXNc.1925C>T (p.Pro642Leu)
c.1733C>T (p.Pro578Leu)
c.1624C>T
n.764C>T
n.1499C>T
c.1883C>T (p.Pro628Leu)
c.1703C>T (p.Pro568Leu)
c.1691C>T (p.Pro564Leu)
c.1508C>T (p.Pro503Leu)
1g.77942727A>CCA418709772NEXNc.1926A>C (p.Pro642=)
c.1734A>C (p.Pro578=)
c.1625A>C
n.765A>C
n.1500A>C
c.1884A>C (p.Pro628=)
c.1704A>C (p.Pro568=)
c.1692A>C (p.Pro564=)
c.1509A>C (p.Pro503=)
1g.77942727A>GCA418709776NEXNc.1926A>G (p.Pro642=)
c.1734A>G (p.Pro578=)
c.1625A>G
n.765A>G
n.1500A>G
c.1884A>G (p.Pro628=)
c.1704A>G (p.Pro568=)
c.1692A>G (p.Pro564=)
c.1509A>G (p.Pro503=)
1g.77942727A>TCA418709774NEXNc.1926A>T (p.Pro642=)
c.1734A>T (p.Pro578=)
c.1625A>T
n.765A>T
n.1500A>T
c.1884A>T (p.Pro628=)
c.1704A>T (p.Pro568=)
c.1692A>T (p.Pro564=)
c.1509A>T (p.Pro503=)
1g.77942728G>ACA340883208NEXNc.1927G>A (p.Glu643Lys)
c.1735G>A (p.Glu579Lys)
c.1626G>A
n.766G>A
n.1501G>A
c.1885G>A (p.Glu629Lys)
c.1705G>A (p.Glu569Lys)
c.1693G>A (p.Glu565Lys)
c.1510G>A (p.Glu504Lys)
1g.77942728G>CCA340883206NEXNc.1927G>C (p.Glu643Gln)
c.1735G>C (p.Glu579Gln)
c.1626G>C
n.766G>C
n.1501G>C
c.1885G>C (p.Glu629Gln)
c.1705G>C (p.Glu569Gln)
c.1693G>C (p.Glu565Gln)
c.1510G>C (p.Glu504Gln)
1g.77942728G>TCA340883207NEXNc.1927G>T (p.Glu643Ter)
c.1735G>T (p.Glu579Ter)
c.1626G>T
n.766G>T
n.1501G>T
c.1885G>T (p.Glu629Ter)
c.1705G>T (p.Glu569Ter)
c.1693G>T (p.Glu565Ter)
c.1510G>T (p.Glu504Ter)
1g.77942729A=CA1177631454NEXNc.1928A= (p.Glu643=)
c.1736A= (p.Glu579=)
c.1627A=
n.767A=
n.1502A=
c.1886A= (p.Glu629=)
c.1706A= (p.Glu569=)
c.1694A= (p.Glu565=)
c.1511A= (p.Glu504=)
1g.77942729A>CCA340883209NEXNc.1928A>C (p.Glu643Ala)
c.1736A>C (p.Glu579Ala)
c.1627A>C
n.767A>C
n.1502A>C
c.1886A>C (p.Glu629Ala)
c.1706A>C (p.Glu569Ala)
c.1694A>C (p.Glu565Ala)
c.1511A>C (p.Glu504Ala)
ClinVar dbSNP gnomAD v4
1g.77942729A>GCA340883210NEXNc.1928A>G (p.Glu643Gly)
c.1736A>G (p.Glu579Gly)
c.1627A>G
n.767A>G
n.1502A>G
c.1886A>G (p.Glu629Gly)
c.1706A>G (p.Glu569Gly)
c.1694A>G (p.Glu565Gly)
c.1511A>G (p.Glu504Gly)
1g.77942729A>TCA340883211NEXNc.1928A>T (p.Glu643Val)
c.1736A>T (p.Glu579Val)
c.1627A>T
n.767A>T
n.1502A>T
c.1886A>T (p.Glu629Val)
c.1706A>T (p.Glu569Val)
c.1694A>T (p.Glu565Val)
c.1511A>T (p.Glu504Val)
gnomAD v4
1g.77942731delCA2580063261NEXNc.1930del (p.Thr644LeufsTer?)
c.1738del (p.Thr580LeufsTer?)
c.1629del
n.769del
n.1504del
c.1888del (p.Thr630LeufsTer?)
c.1708del (p.Thr570LeufsTer?)
c.1696del (p.Thr566LeufsTer?)
c.1513del (p.Thr505LeufsTer?)
ClinVar
1g.77942730A>CCA340883212NEXNc.1929A>C (p.Glu643Asp)
c.1737A>C (p.Glu579Asp)
c.1628A>C
n.768A>C
n.1503A>C
c.1887A>C (p.Glu629Asp)
c.1707A>C (p.Glu569Asp)
c.1695A>C (p.Glu565Asp)
c.1512A>C (p.Glu504Asp)
gnomAD v4
1g.77942730A>GCA418709779NEXNc.1929A>G (p.Glu643=)
c.1737A>G (p.Glu579=)
c.1628A>G
n.768A>G
n.1503A>G
c.1887A>G (p.Glu629=)
c.1707A>G (p.Glu569=)
c.1695A>G (p.Glu565=)
c.1512A>G (p.Glu504=)
1g.77942730A>TCA340883213NEXNc.1929A>T (p.Glu643Asp)
c.1737A>T (p.Glu579Asp)
c.1628A>T
n.768A>T
n.1503A>T
c.1887A>T (p.Glu629Asp)
c.1707A>T (p.Glu569Asp)
c.1695A>T (p.Glu565Asp)
c.1512A>T (p.Glu504Asp)
1g.77942731A>CCA340883214NEXNc.1930A>C (p.Thr644Pro)
c.1738A>C (p.Thr580Pro)
c.1629A>C
n.769A>C
n.1504A>C
c.1888A>C (p.Thr630Pro)
c.1708A>C (p.Thr570Pro)
c.1696A>C (p.Thr566Pro)
c.1513A>C (p.Thr505Pro)
1g.77942731A>GCA340883216NEXNc.1930A>G (p.Thr644Ala)
c.1738A>G (p.Thr580Ala)
c.1629A>G
n.769A>G
n.1504A>G
c.1888A>G (p.Thr630Ala)
c.1708A>G (p.Thr570Ala)
c.1696A>G (p.Thr566Ala)
c.1513A>G (p.Thr505Ala)
gnomAD v4
1g.77942731A>TCA340883215NEXNc.1930A>T (p.Thr644Ser)
c.1738A>T (p.Thr580Ser)
c.1629A>T
n.769A>T
n.1504A>T
c.1888A>T (p.Thr630Ser)
c.1708A>T (p.Thr570Ser)
c.1696A>T (p.Thr566Ser)
c.1513A>T (p.Thr505Ser)
1g.77942732C>ACA340883217NEXNc.1931C>A (p.Thr644Asn)
c.1739C>A (p.Thr580Asn)
c.1630C>A
n.770C>A
n.1505C>A
c.1889C>A (p.Thr630Asn)
c.1709C>A (p.Thr570Asn)
c.1697C>A (p.Thr566Asn)
c.1514C>A (p.Thr505Asn)
1g.77942732C>GCA340883218NEXNc.1931C>G (p.Thr644Ser)
c.1739C>G (p.Thr580Ser)
c.1630C>G
n.770C>G
n.1505C>G
c.1889C>G (p.Thr630Ser)
c.1709C>G (p.Thr570Ser)
c.1697C>G (p.Thr566Ser)
c.1514C>G (p.Thr505Ser)
1g.77942732C>TCA340883219NEXNc.1931C>T (p.Thr644Ile)
c.1739C>T (p.Thr580Ile)
c.1630C>T
n.770C>T
n.1505C>T
c.1889C>T (p.Thr630Ile)
c.1709C>T (p.Thr570Ile)
c.1697C>T (p.Thr566Ile)
c.1514C>T (p.Thr505Ile)
1g.77942733T>ACA418709786NEXNc.1932T>A (p.Thr644=)
c.1740T>A (p.Thr580=)
c.1631T>A
n.771T>A
n.1506T>A
c.1890T>A (p.Thr630=)
c.1710T>A (p.Thr570=)
c.1698T>A (p.Thr566=)
c.1515T>A (p.Thr505=)
1g.77942733T>CCA418709787NEXNc.1932T>C (p.Thr644=)
c.1740T>C (p.Thr580=)
c.1631T>C
n.771T>C
n.1506T>C
c.1890T>C (p.Thr630=)
c.1710T>C (p.Thr570=)
c.1698T>C (p.Thr566=)
c.1515T>C (p.Thr505=)
dbSNP gnomAD v4
1g.77942733T>GCA418709788NEXNc.1932T>G (p.Thr644=)
c.1740T>G (p.Thr580=)
c.1631T>G
n.771T>G
n.1506T>G
c.1890T>G (p.Thr630=)
c.1710T>G (p.Thr570=)
c.1698T>G (p.Thr566=)
c.1515T>G (p.Thr505=)
1g.77942733T=CA1177631455NEXNc.1932T= (p.Thr644=)
c.1740T= (p.Thr580=)
c.1631T=
n.771T=
n.1506T=
c.1890T= (p.Thr630=)
c.1710T= (p.Thr570=)
c.1698T= (p.Thr566=)
c.1515T= (p.Thr505=)
1g.77942734T>ACA340883220NEXNc.1933T>A (p.Phe645Ile)
c.1741T>A (p.Phe581Ile)
c.1632T>A
n.772T>A
n.1507T>A
c.1891T>A (p.Phe631Ile)
c.1711T>A (p.Phe571Ile)
c.1699T>A (p.Phe567Ile)
c.1516T>A (p.Phe506Ile)
1g.77942734T>CCA340883221NEXNc.1933T>C (p.Phe645Leu)
c.1741T>C (p.Phe581Leu)
c.1632T>C
n.772T>C
n.1507T>C
c.1891T>C (p.Phe631Leu)
c.1711T>C (p.Phe571Leu)
c.1699T>C (p.Phe567Leu)
c.1516T>C (p.Phe506Leu)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.77942734T>GCA340883222NEXNc.1933T>G (p.Phe645Val)
c.1741T>G (p.Phe581Val)
c.1632T>G
n.772T>G
n.1507T>G
c.1891T>G (p.Phe631Val)
c.1711T>G (p.Phe571Val)
c.1699T>G (p.Phe567Val)
c.1516T>G (p.Phe506Val)
1g.77942734T=CA1177631456NEXNc.1933T= (p.Phe645=)
c.1741T= (p.Phe581=)
c.1632T=
n.772T=
n.1507T=
c.1891T= (p.Phe631=)
c.1711T= (p.Phe571=)
c.1699T= (p.Phe567=)
c.1516T= (p.Phe506=)
1g.77942735T>ACA340883223NEXNc.1934T>A (p.Phe645Tyr)
c.1742T>A (p.Phe581Tyr)
c.1633T>A
n.773T>A
n.1508T>A
c.1892T>A (p.Phe631Tyr)
c.1712T>A (p.Phe571Tyr)
c.1700T>A (p.Phe567Tyr)
c.1517T>A (p.Phe506Tyr)
1g.77942735T>CCA340883224NEXNc.1934T>C (p.Phe645Ser)
c.1742T>C (p.Phe581Ser)
c.1633T>C
n.773T>C
n.1508T>C
c.1892T>C (p.Phe631Ser)
c.1712T>C (p.Phe571Ser)
c.1700T>C (p.Phe567Ser)
c.1517T>C (p.Phe506Ser)
1g.77942735T>GCA340883225NEXNc.1934T>G (p.Phe645Cys)
c.1742T>G (p.Phe581Cys)
c.1633T>G
n.773T>G
n.1508T>G
c.1892T>G (p.Phe631Cys)
c.1712T>G (p.Phe571Cys)
c.1700T>G (p.Phe567Cys)
c.1517T>G (p.Phe506Cys)
1g.77942736C>ACA340883226NEXNc.1935C>A (p.Phe645Leu)
c.1743C>A (p.Phe581Leu)
c.1634C>A
n.774C>A
n.1509C>A
c.1893C>A (p.Phe631Leu)
c.1713C>A (p.Phe571Leu)
c.1701C>A (p.Phe567Leu)
c.1518C>A (p.Phe506Leu)
1g.77942736C=CA1177631457NEXNc.1935C= (p.Phe645=)
c.1743C= (p.Phe581=)
c.1634C=
n.774C=
n.1509C=
c.1893C= (p.Phe631=)
c.1713C= (p.Phe571=)
c.1701C= (p.Phe567=)
c.1518C= (p.Phe506=)
1g.77942736C>GCA335445NEXNc.1935C>G (p.Phe645Leu)
c.1743C>G (p.Phe581Leu)
c.1634C>G
n.774C>G
n.1509C>G
c.1893C>G (p.Phe631Leu)
c.1713C>G (p.Phe571Leu)
c.1701C>G (p.Phe567Leu)
c.1518C>G (p.Phe506Leu)
ClinVar dbSNP gnomAD v4
1g.77942736C>TCA418709792NEXNc.1935C>T (p.Phe645=)
c.1743C>T (p.Phe581=)
c.1634C>T
n.774C>T
n.1509C>T
c.1893C>T (p.Phe631=)
c.1713C>T (p.Phe571=)
c.1701C>T (p.Phe567=)
c.1518C>T (p.Phe506=)
gnomAD v4
1g.77942737C>ACA340883228NEXNc.1936C>A (p.Pro646Thr)
c.1744C>A (p.Pro582Thr)
c.1635C>A
n.775C>A
n.1510C>A
c.1894C>A (p.Pro632Thr)
c.1714C>A (p.Pro572Thr)
c.1702C>A (p.Pro568Thr)
c.1519C>A (p.Pro507Thr)
1g.77942737C=CA1177631458NEXNc.1936C= (p.Pro646=)
c.1744C= (p.Pro582=)
c.1635C=
n.775C=
n.1510C=
c.1894C= (p.Pro632=)
c.1714C= (p.Pro572=)
c.1702C= (p.Pro568=)
c.1519C= (p.Pro507=)
1g.77942737C>GCA919009NEXNc.1936C>G (p.Pro646Ala)
c.1744C>G (p.Pro582Ala)
c.1635C>G
n.775C>G
n.1510C>G
c.1894C>G (p.Pro632Ala)
c.1714C>G (p.Pro572Ala)
c.1702C>G (p.Pro568Ala)
c.1519C>G (p.Pro507Ala)
dbSNP ExAC gnomAD v2
1g.77942737C>TCA340883227NEXNc.1936C>T (p.Pro646Ser)
c.1744C>T (p.Pro582Ser)
c.1635C>T
n.775C>T
n.1510C>T
c.1894C>T (p.Pro632Ser)
c.1714C>T (p.Pro572Ser)
c.1702C>T (p.Pro568Ser)
c.1519C>T (p.Pro507Ser)
1g.77942738C>ACA142137NEXNc.1937C>A (p.Pro646Gln)
c.1745C>A (p.Pro582Gln)
c.1636C>A
n.776C>A
n.1511C>A
c.1895C>A (p.Pro632Gln)
c.1715C>A (p.Pro572Gln)
c.1703C>A (p.Pro568Gln)
c.1520C>A (p.Pro507Gln)
ClinVar dbSNP
1g.77942738C=CA1144228879NEXNc.1937C= (p.Pro646=)
c.1745C= (p.Pro582=)
c.1636C=
n.776C=
n.1511C=
c.1895C= (p.Pro632=)
c.1715C= (p.Pro572=)
c.1703C= (p.Pro568=)
c.1520C= (p.Pro507=)
1g.77942738C>GCA340883229NEXNc.1937C>G (p.Pro646Arg)
c.1745C>G (p.Pro582Arg)
c.1636C>G
n.776C>G
n.1511C>G
c.1895C>G (p.Pro632Arg)
c.1715C>G (p.Pro572Arg)
c.1703C>G (p.Pro568Arg)
c.1520C>G (p.Pro507Arg)
dbSNP gnomAD v2 gnomAD v4
1g.77942738C>TCA340883230NEXNc.1937C>T (p.Pro646Leu)
c.1745C>T (p.Pro582Leu)
c.1636C>T
n.776C>T
n.1511C>T
c.1895C>T (p.Pro632Leu)
c.1715C>T (p.Pro572Leu)
c.1703C>T (p.Pro568Leu)
c.1520C>T (p.Pro507Leu)
1g.77942739A=CA1177631459NEXNc.1938A= (p.Pro646=)
c.1746A= (p.Pro582=)
c.1637A=
n.777A=
n.1512A=
c.1896A= (p.Pro632=)
c.1716A= (p.Pro572=)
c.1704A= (p.Pro568=)
c.1521A= (p.Pro507=)
1g.77942739A>CCA418709794NEXNc.1938A>C (p.Pro646=)
c.1746A>C (p.Pro582=)
c.1637A>C
n.777A>C
n.1512A>C
c.1896A>C (p.Pro632=)
c.1716A>C (p.Pro572=)
c.1704A>C (p.Pro568=)
c.1521A>C (p.Pro507=)
ClinVar dbSNP gnomAD v4
1g.77942739A>GCA418709796NEXNc.1938A>G (p.Pro646=)
c.1746A>G (p.Pro582=)
c.1637A>G
n.777A>G
n.1512A>G
c.1896A>G (p.Pro632=)
c.1716A>G (p.Pro572=)
c.1704A>G (p.Pro568=)
c.1521A>G (p.Pro507=)
1g.77942739A>TCA418709797NEXNc.1938A>T (p.Pro646=)
c.1746A>T (p.Pro582=)
c.1637A>T
n.777A>T
n.1512A>T
c.1896A>T (p.Pro632=)
c.1716A>T (p.Pro572=)
c.1704A>T (p.Pro568=)
c.1521A>T (p.Pro507=)
1g.77942740G>ACA340883231NEXNc.1939G>A (p.Glu647Lys)
c.1747G>A (p.Glu583Lys)
c.1638G>A
n.778G>A
n.1513G>A
c.1897G>A (p.Glu633Lys)
c.1717G>A (p.Glu573Lys)
c.1705G>A (p.Glu569Lys)
c.1522G>A (p.Glu508Lys)
1g.77942740G>CCA340883232NEXNc.1939G>C (p.Glu647Gln)
c.1747G>C (p.Glu583Gln)
c.1638G>C
n.778G>C
n.1513G>C
c.1897G>C (p.Glu633Gln)
c.1717G>C (p.Glu573Gln)
c.1705G>C (p.Glu569Gln)
c.1522G>C (p.Glu508Gln)
1g.77942740G>TCA340883233NEXNc.1939G>T (p.Glu647Ter)
c.1747G>T (p.Glu583Ter)
c.1638G>T
n.778G>T
n.1513G>T
c.1897G>T (p.Glu633Ter)
c.1717G>T (p.Glu573Ter)
c.1705G>T (p.Glu569Ter)
c.1522G>T (p.Glu508Ter)
1g.77942741A>CCA340883236NEXNc.1940A>C (p.Glu647Ala)
c.1748A>C (p.Glu583Ala)
c.1639A>C
n.779A>C
n.1514A>C
c.1898A>C (p.Glu633Ala)
c.1718A>C (p.Glu573Ala)
c.1706A>C (p.Glu569Ala)
c.1523A>C (p.Glu508Ala)
1g.77942741A>GCA340883234NEXNc.1940A>G (p.Glu647Gly)
c.1748A>G (p.Glu583Gly)
c.1639A>G
n.779A>G
n.1514A>G
c.1898A>G (p.Glu633Gly)
c.1718A>G (p.Glu573Gly)
c.1706A>G (p.Glu569Gly)
c.1523A>G (p.Glu508Gly)
1g.77942741A>TCA340883235NEXNc.1940A>T (p.Glu647Val)
c.1748A>T (p.Glu583Val)
c.1639A>T
n.779A>T
n.1514A>T
c.1898A>T (p.Glu633Val)
c.1718A>T (p.Glu573Val)
c.1706A>T (p.Glu569Val)
c.1523A>T (p.Glu508Val)
1g.77942742A>CCA340883237NEXNc.1941A>C (p.Glu647Asp)
c.1749A>C (p.Glu583Asp)
c.1640A>C
n.780A>C
n.1515A>C
c.1899A>C (p.Glu633Asp)
c.1719A>C (p.Glu573Asp)
c.1707A>C (p.Glu569Asp)
c.1524A>C (p.Glu508Asp)
1g.77942742A>GCA418709801NEXNc.1941A>G (p.Glu647=)
c.1749A>G (p.Glu583=)
c.1640A>G
n.780A>G
n.1515A>G
c.1899A>G (p.Glu633=)
c.1719A>G (p.Glu573=)
c.1707A>G (p.Glu569=)
c.1524A>G (p.Glu508=)
1g.77942742A>TCA340883238NEXNc.1941A>T (p.Glu647Asp)
c.1749A>T (p.Glu583Asp)
c.1640A>T
n.780A>T
n.1515A>T
c.1899A>T (p.Glu633Asp)
c.1719A>T (p.Glu573Asp)
c.1707A>T (p.Glu569Asp)
c.1524A>T (p.Glu508Asp)
1g.77942743G>ACA340883239NEXNc.1942G>A (p.Asp648Asn)
c.1750G>A (p.Asp584Asn)
c.1641G>A
n.781G>A
n.1516G>A
c.1900G>A (p.Asp634Asn)
c.1720G>A (p.Asp574Asn)
c.1708G>A (p.Asp570Asn)
c.1525G>A (p.Asp509Asn)
gnomAD v4
1g.77942743G>CCA340883240NEXNc.1942G>C (p.Asp648His)
c.1750G>C (p.Asp584His)
c.1641G>C
n.781G>C
n.1516G>C
c.1900G>C (p.Asp634His)
c.1720G>C (p.Asp574His)
c.1708G>C (p.Asp570His)
c.1525G>C (p.Asp509His)
1g.77942743G>TCA340883241NEXNc.1942G>T (p.Asp648Tyr)
c.1750G>T (p.Asp584Tyr)
c.1641G>T
n.781G>T
n.1516G>T
c.1900G>T (p.Asp634Tyr)
c.1720G>T (p.Asp574Tyr)
c.1708G>T (p.Asp570Tyr)
c.1525G>T (p.Asp509Tyr)
1g.77942744A=CA1177631460NEXNc.1943A= (p.Asp648=)
c.1751A= (p.Asp584=)
c.1642A=
n.782A=
n.1517A=
c.1901A= (p.Asp634=)
c.1721A= (p.Asp574=)
c.1709A= (p.Asp570=)
c.1526A= (p.Asp509=)
1g.77942744A>CCA340883243NEXNc.1943A>C (p.Asp648Ala)
c.1751A>C (p.Asp584Ala)
c.1642A>C
n.782A>C
n.1517A>C
c.1901A>C (p.Asp634Ala)
c.1721A>C (p.Asp574Ala)
c.1709A>C (p.Asp570Ala)
c.1526A>C (p.Asp509Ala)
1g.77942744A>GCA919010NEXNc.1943A>G (p.Asp648Gly)
c.1751A>G (p.Asp584Gly)
c.1642A>G
n.782A>G
n.1517A>G
c.1901A>G (p.Asp634Gly)
c.1721A>G (p.Asp574Gly)
c.1709A>G (p.Asp570Gly)
c.1526A>G (p.Asp509Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77942744A>TCA340883242NEXNc.1943A>T (p.Asp648Val)
c.1751A>T (p.Asp584Val)
c.1642A>T
n.782A>T
n.1517A>T
c.1901A>T (p.Asp634Val)
c.1721A>T (p.Asp574Val)
c.1709A>T (p.Asp570Val)
c.1526A>T (p.Asp509Val)
dbSNP gnomAD v2
1g.77942745T>ACA340883244NEXNc.1944T>A (p.Asp648Glu)
c.1752T>A (p.Asp584Glu)
c.1643T>A
n.783T>A
n.1518T>A
c.1902T>A (p.Asp634Glu)
c.1722T>A (p.Asp574Glu)
c.1710T>A (p.Asp570Glu)
c.1527T>A (p.Asp509Glu)
1g.77942745T>CCA418709807NEXNc.1944T>C (p.Asp648=)
c.1752T>C (p.Asp584=)
c.1643T>C
n.783T>C
n.1518T>C
c.1902T>C (p.Asp634=)
c.1722T>C (p.Asp574=)
c.1710T>C (p.Asp570=)
c.1527T>C (p.Asp509=)
gnomAD v4
1g.77942745T>GCA340883245NEXNc.1944T>G (p.Asp648Glu)
c.1752T>G (p.Asp584Glu)
c.1643T>G
n.783T>G
n.1518T>G
c.1902T>G (p.Asp634Glu)
c.1722T>G (p.Asp574Glu)
c.1710T>G (p.Asp570Glu)
c.1527T>G (p.Asp509Glu)
1g.77942745_77942748delinsTGGACA1177631461NEXNc.1944_1947delinsTGGA (p.Asp648=)
c.1752_1755delinsTGGA (p.Asp584=)
c.1643_1646delinsTGGA
n.783_786delinsTGGA
n.1518_1521delinsTGGA
c.1902_1905delinsTGGA (p.Asp634=)
c.1722_1725delinsTGGA (p.Asp574=)
c.1710_1713delinsTGGA (p.Asp570=)
c.1527_1530delinsTGGA (p.Asp509=)
1g.77942746G>ACA340883246NEXNc.1945G>A (p.Gly649Arg)
c.1753G>A (p.Gly585Arg)
c.1644G>A
n.784G>A
n.1519G>A
c.1903G>A (p.Gly635Arg)
c.1723G>A (p.Gly575Arg)
c.1711G>A (p.Gly571Arg)
c.1528G>A (p.Gly510Arg)
1g.77942746G>CCA340883247NEXNc.1945G>C (p.Gly649Arg)
c.1753G>C (p.Gly585Arg)
c.1644G>C
n.784G>C
n.1519G>C
c.1903G>C (p.Gly635Arg)
c.1723G>C (p.Gly575Arg)
c.1711G>C (p.Gly571Arg)
c.1528G>C (p.Gly510Arg)
1g.77942746G>TCA340883248NEXNc.1945G>T (p.Gly649Ter)
c.1753G>T (p.Gly585Ter)
c.1644G>T
n.784G>T
n.1519G>T
c.1903G>T (p.Gly635Ter)
c.1723G>T (p.Gly575Ter)
c.1711G>T (p.Gly571Ter)
c.1528G>T (p.Gly510Ter)
1g.77942746_77942752delinsGGAGGAGCA1144228880NEXNc.1945_1951delinsGGAGGAG (p.Gly649=)
c.1753_1759delinsGGAGGAG (p.Gly585=)
c.1644_1650delinsGGAGGAG
n.784_790delinsGGAGGAG
n.1519_1525delinsGGAGGAG
c.1903_1909delinsGGAGGAG (p.Gly635=)
c.1723_1729delinsGGAGGAG (p.Gly575=)
c.1711_1717delinsGGAGGAG (p.Gly571=)
c.1528_1534delinsGGAGGAG (p.Gly510=)
1g.77942750_77942752delCA142140NEXNc.1949_1951del (p.Gly650del)
c.1757_1759del (p.Gly586del)
c.1648_1650del
n.788_790del
n.1523_1525del
c.1907_1909del (p.Gly636del)
c.1727_1729del (p.Gly576del)
c.1715_1717del (p.Gly572del)
c.1532_1534del (p.Gly511del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942747G>ACA340883249NEXNc.1946G>A (p.Gly649Glu)
c.1754G>A (p.Gly585Glu)
c.1645G>A
n.785G>A
n.1520G>A
c.1904G>A (p.Gly635Glu)
c.1724G>A (p.Gly575Glu)
c.1712G>A (p.Gly571Glu)
c.1529G>A (p.Gly510Glu)
1g.77942747G>CCA340883250NEXNc.1946G>C (p.Gly649Ala)
c.1754G>C (p.Gly585Ala)
c.1645G>C
n.785G>C
n.1520G>C
c.1904G>C (p.Gly635Ala)
c.1724G>C (p.Gly575Ala)
c.1712G>C (p.Gly571Ala)
c.1529G>C (p.Gly510Ala)
1g.77942747G>TCA340883251NEXNc.1946G>T (p.Gly649Val)
c.1754G>T (p.Gly585Val)
c.1645G>T
n.785G>T
n.1520G>T
c.1904G>T (p.Gly635Val)
c.1724G>T (p.Gly575Val)
c.1712G>T (p.Gly571Val)
c.1529G>T (p.Gly510Val)
1g.77942748A>CCA418709813NEXNc.1947A>C (p.Gly649=)
c.1755A>C (p.Gly585=)
c.1646A>C
n.786A>C
n.1521A>C
c.1905A>C (p.Gly635=)
c.1725A>C (p.Gly575=)
c.1713A>C (p.Gly571=)
c.1530A>C (p.Gly510=)
1g.77942748A>GCA418709811NEXNc.1947A>G (p.Gly649=)
c.1755A>G (p.Gly585=)
c.1646A>G
n.786A>G
n.1521A>G
c.1905A>G (p.Gly635=)
c.1725A>G (p.Gly575=)
c.1713A>G (p.Gly571=)
c.1530A>G (p.Gly510=)
1g.77942748A>TCA418709812NEXNc.1947A>T (p.Gly649=)
c.1755A>T (p.Gly585=)
c.1646A>T
n.786A>T
n.1521A>T
c.1905A>T (p.Gly635=)
c.1725A>T (p.Gly575=)
c.1713A>T (p.Gly571=)
c.1530A>T (p.Gly510=)
1g.77942749G>ACA340883252NEXNc.1948G>A (p.Gly650Arg)
c.1756G>A (p.Gly586Arg)
c.1647G>A
n.787G>A
n.1522G>A
c.1906G>A (p.Gly636Arg)
c.1726G>A (p.Gly576Arg)
c.1714G>A (p.Gly572Arg)
c.1531G>A (p.Gly511Arg)
ClinVar gnomAD v4
1g.77942749G>CCA340883253NEXNc.1948G>C (p.Gly650Arg)
c.1756G>C (p.Gly586Arg)
c.1647G>C
n.787G>C
n.1522G>C
c.1906G>C (p.Gly636Arg)
c.1726G>C (p.Gly576Arg)
c.1714G>C (p.Gly572Arg)
c.1531G>C (p.Gly511Arg)
1g.77942749G>TCA340883254NEXNc.1948G>T (p.Gly650Ter)
c.1756G>T (p.Gly586Ter)
c.1647G>T
n.787G>T
n.1522G>T
c.1906G>T (p.Gly636Ter)
c.1726G>T (p.Gly576Ter)
c.1714G>T (p.Gly572Ter)
c.1531G>T (p.Gly511Ter)
1g.77942749_77942751delinsGGACA1177631462NEXNc.1948_1950delinsGGA (p.Gly650=)
c.1756_1758delinsGGA (p.Gly586=)
c.1647_1649delinsGGA
n.787_789delinsGGA
n.1522_1524delinsGGA
c.1906_1908delinsGGA (p.Gly636=)
c.1726_1728delinsGGA (p.Gly576=)
c.1714_1716delinsGGA (p.Gly572=)
c.1531_1533delinsGGA (p.Gly511=)
1g.77942750G>ACA340883257NEXNc.1949G>A (p.Gly650Glu)
c.1757G>A (p.Gly586Glu)
c.1648G>A
n.788G>A
n.1523G>A
c.1907G>A (p.Gly636Glu)
c.1727G>A (p.Gly576Glu)
c.1715G>A (p.Gly572Glu)
c.1532G>A (p.Gly511Glu)
1g.77942750G>CCA340883255NEXNc.1949G>C (p.Gly650Ala)
c.1757G>C (p.Gly586Ala)
c.1648G>C
n.788G>C
n.1523G>C
c.1907G>C (p.Gly636Ala)
c.1727G>C (p.Gly576Ala)
c.1715G>C (p.Gly572Ala)
c.1532G>C (p.Gly511Ala)
1g.77942750G>TCA340883256NEXNc.1949G>T (p.Gly650Val)
c.1757G>T (p.Gly586Val)
c.1648G>T
n.788G>T
n.1523G>T
c.1907G>T (p.Gly636Val)
c.1727G>T (p.Gly576Val)
c.1715G>T (p.Gly572Val)
c.1532G>T (p.Gly511Val)
gnomAD v4
1g.77942753_77942754delCA658795481NEXNc.1952_1953del (p.Glu651ValfsTer4)
c.1760_1761del (p.Glu587ValfsTer4)
c.1651_1652del
n.1526_1527del
c.1910_1911del (p.Glu637ValfsTer4)
c.1730_1731del (p.Glu577ValfsTer4)
c.1718_1719del (p.Glu573ValfsTer4)
c.1535_1536del (p.Glu512ValfsTer4)
ClinVar dbSNP gnomAD v4
1g.77942751A>CCA418709815NEXNc.1950A>C (p.Gly650=)
c.1758A>C (p.Gly586=)
c.1649A>C
n.789A>C
n.1524A>C
c.1908A>C (p.Gly636=)
c.1728A>C (p.Gly576=)
c.1716A>C (p.Gly572=)
c.1533A>C (p.Gly511=)
gnomAD v4
1g.77942751A>GCA418709817NEXNc.1950A>G (p.Gly650=)
c.1758A>G (p.Gly586=)
c.1649A>G
n.789A>G
n.1524A>G
c.1908A>G (p.Gly636=)
c.1728A>G (p.Gly576=)
c.1716A>G (p.Gly572=)
c.1533A>G (p.Gly511=)
ClinVar dbSNP
1g.77942751A>TCA418709818NEXNc.1950A>T (p.Gly650=)
c.1758A>T (p.Gly586=)
c.1649A>T
n.789A>T
n.1524A>T
c.1908A>T (p.Gly636=)
c.1728A>T (p.Gly576=)
c.1716A>T (p.Gly572=)
c.1533A>T (p.Gly511=)
1g.77942752G>ACA340883260NEXNc.1951G>A (p.Glu651Lys)
c.1759G>A (p.Glu587Lys)
c.1650G>A
n.790G>A
n.1525G>A
c.1909G>A (p.Glu637Lys)
c.1729G>A (p.Glu577Lys)
c.1717G>A (p.Glu573Lys)
c.1534G>A (p.Glu512Lys)
ClinVar dbSNP gnomAD v4
1g.77942752G>CCA340883258NEXNc.1951G>C (p.Glu651Gln)
c.1759G>C (p.Glu587Gln)
c.1650G>C
n.790G>C
n.1525G>C
c.1909G>C (p.Glu637Gln)
c.1729G>C (p.Glu577Gln)
c.1717G>C (p.Glu573Gln)
c.1534G>C (p.Glu512Gln)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.77942752G=CA1177631463NEXNc.1951G= (p.Glu651=)
c.1759G= (p.Glu587=)
c.1650G=
n.790G=
n.1525G=
c.1909G= (p.Glu637=)
c.1729G= (p.Glu577=)
c.1717G= (p.Glu573=)
c.1534G= (p.Glu512=)
1g.77942752G>TCA340883259NEXNc.1951G>T (p.Glu651Ter)
c.1759G>T (p.Glu587Ter)
c.1650G>T
n.790G>T
n.1525G>T
c.1909G>T (p.Glu637Ter)
c.1729G>T (p.Glu577Ter)
c.1717G>T (p.Glu573Ter)
c.1534G>T (p.Glu512Ter)
1g.77942753A>CCA340883261NEXNc.1952A>C (p.Glu651Ala)
c.1760A>C (p.Glu587Ala)
c.1651A>C
n.791A>C
n.1526A>C
c.1910A>C (p.Glu637Ala)
c.1730A>C (p.Glu577Ala)
c.1718A>C (p.Glu573Ala)
c.1535A>C (p.Glu512Ala)
1g.77942753A>GCA340883262NEXNc.1952A>G (p.Glu651Gly)
c.1760A>G (p.Glu587Gly)
c.1651A>G
n.791A>G
n.1526A>G
c.1910A>G (p.Glu637Gly)
c.1730A>G (p.Glu577Gly)
c.1718A>G (p.Glu573Gly)
c.1535A>G (p.Glu512Gly)
1g.77942753A>TCA340883263NEXNc.1952A>T (p.Glu651Val)
c.1760A>T (p.Glu587Val)
c.1651A>T
n.791A>T
n.1526A>T
c.1910A>T (p.Glu637Val)
c.1730A>T (p.Glu577Val)
c.1718A>T (p.Glu573Val)
c.1535A>T (p.Glu512Val)
1g.77942754G>ACA418709819NEXNc.1953G>A (p.Glu651=)
c.1761G>A (p.Glu587=)
c.1652G>A
n.1527G>A
c.1911G>A (p.Glu637=)
c.1731G>A (p.Glu577=)
c.1719G>A (p.Glu573=)
c.1536G>A (p.Glu512=)
1g.77942754G>CCA340883264NEXNc.1953G>C (p.Glu651Asp)
c.1761G>C (p.Glu587Asp)
c.1652G>C
n.1527G>C
c.1911G>C (p.Glu637Asp)
c.1731G>C (p.Glu577Asp)
c.1719G>C (p.Glu573Asp)
c.1536G>C (p.Glu512Asp)
1g.77942754G>TCA340883265NEXNc.1953G>T (p.Glu651Asp)
c.1761G>T (p.Glu587Asp)
c.1652G>T
n.1527G>T
c.1911G>T (p.Glu637Asp)
c.1731G>T (p.Glu577Asp)
c.1719G>T (p.Glu573Asp)
c.1536G>T (p.Glu512Asp)
1g.77942755T>ACA340883266NEXNc.1954T>A (p.Tyr652Asn)
c.1762T>A (p.Tyr588Asn)
c.1653T>A
n.1528T>A
c.1912T>A (p.Tyr638Asn)
c.1732T>A (p.Tyr578Asn)
c.1720T>A (p.Tyr574Asn)
c.1537T>A (p.Tyr513Asn)
gnomAD v4
1g.77942755T>CCA340883267NEXNc.1954T>C (p.Tyr652His)
c.1762T>C (p.Tyr588His)
c.1653T>C
n.1528T>C
c.1912T>C (p.Tyr638His)
c.1732T>C (p.Tyr578His)
c.1720T>C (p.Tyr574His)
c.1537T>C (p.Tyr513His)
1g.77942755T>GCA340883268NEXNc.1954T>G (p.Tyr652Asp)
c.1762T>G (p.Tyr588Asp)
c.1653T>G
n.1528T>G
c.1912T>G (p.Tyr638Asp)
c.1732T>G (p.Tyr578Asp)
c.1720T>G (p.Tyr574Asp)
c.1537T>G (p.Tyr513Asp)
1g.77942758_77942759delCA2740152414NEXNc.1957_1958del (p.Met653ValfsTer2)
c.1765_1766del (p.Met589ValfsTer2)
c.1656_1657del
n.1531_1532del
c.1915_1916del (p.Met639ValfsTer2)
c.1735_1736del (p.Met579ValfsTer2)
c.1723_1724del (p.Met575ValfsTer2)
c.1540_1541del (p.Met514ValfsTer2)
1g.77942756A=CA1141580867NEXNc.1955A= (p.Tyr652=)
c.1763A= (p.Tyr588=)
c.1654A=
n.1529A=
c.1913A= (p.Tyr638=)
c.1733A= (p.Tyr578=)
c.1721A= (p.Tyr574=)
c.1538A= (p.Tyr513=)
1g.77942756A>CCA340883269NEXNc.1955A>C (p.Tyr652Ser)
c.1763A>C (p.Tyr588Ser)
c.1654A>C
n.1529A>C
c.1913A>C (p.Tyr638Ser)
c.1733A>C (p.Tyr578Ser)
c.1721A>C (p.Tyr574Ser)
c.1538A>C (p.Tyr513Ser)
1g.77942756A>GCA142143NEXNc.1955A>G (p.Tyr652Cys)
c.1763A>G (p.Tyr588Cys)
c.1654A>G
n.1529A>G
c.1913A>G (p.Tyr638Cys)
c.1733A>G (p.Tyr578Cys)
c.1721A>G (p.Tyr574Cys)
c.1538A>G (p.Tyr513Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942756A>TCA340883270NEXNc.1955A>T (p.Tyr652Phe)
c.1763A>T (p.Tyr588Phe)
c.1654A>T
n.1529A>T
c.1913A>T (p.Tyr638Phe)
c.1733A>T (p.Tyr578Phe)
c.1721A>T (p.Tyr574Phe)
c.1538A>T (p.Tyr513Phe)
1g.77942757T>ACA340883271NEXNc.1956T>A (p.Tyr652Ter)
c.1764T>A (p.Tyr588Ter)
c.1655T>A
n.1530T>A
c.1914T>A (p.Tyr638Ter)
c.1734T>A (p.Tyr578Ter)
c.1722T>A (p.Tyr574Ter)
c.1539T>A (p.Tyr513Ter)
1g.77942757T>CCA418709824NEXNc.1956T>C (p.Tyr652=)
c.1764T>C (p.Tyr588=)
c.1655T>C
n.1530T>C
c.1914T>C (p.Tyr638=)
c.1734T>C (p.Tyr578=)
c.1722T>C (p.Tyr574=)
c.1539T>C (p.Tyr513=)
dbSNP gnomAD v2 gnomAD v4
1g.77942757T>GCA340883272NEXNc.1956T>G (p.Tyr652Ter)
c.1764T>G (p.Tyr588Ter)
c.1655T>G
n.1530T>G
c.1914T>G (p.Tyr638Ter)
c.1734T>G (p.Tyr578Ter)
c.1722T>G (p.Tyr574Ter)
c.1539T>G (p.Tyr513Ter)
1g.77942757T=CA1177631464NEXNc.1956T= (p.Tyr652=)
c.1764T= (p.Tyr588=)
c.1655T=
n.1530T=
c.1914T= (p.Tyr638=)
c.1734T= (p.Tyr578=)
c.1722T= (p.Tyr574=)
c.1539T= (p.Tyr513=)
1g.77942758A=CA1177631465NEXNc.1957A= (p.Met653=)
c.1765A= (p.Met589=)
c.1656A=
n.1531A=
c.1915A= (p.Met639=)
c.1735A= (p.Met579=)
c.1723A= (p.Met575=)
c.1540A= (p.Met514=)
1g.77942758A>CCA340883273NEXNc.1957A>C (p.Met653Leu)
c.1765A>C (p.Met589Leu)
c.1656A>C
n.1531A>C
c.1915A>C (p.Met639Leu)
c.1735A>C (p.Met579Leu)
c.1723A>C (p.Met575Leu)
c.1540A>C (p.Met514Leu)
1g.77942758A>GCA919011NEXNc.1957A>G (p.Met653Val)
c.1765A>G (p.Met589Val)
c.1656A>G
n.1531A>G
c.1915A>G (p.Met639Val)
c.1735A>G (p.Met579Val)
c.1723A>G (p.Met575Val)
c.1540A>G (p.Met514Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942758A>TCA340883274NEXNc.1957A>T (p.Met653Leu)
c.1765A>T (p.Met589Leu)
c.1656A>T
n.1531A>T
c.1915A>T (p.Met639Leu)
c.1735A>T (p.Met579Leu)
c.1723A>T (p.Met575Leu)
c.1540A>T (p.Met514Leu)
1g.77942759T>ACA340883275NEXNc.1958T>A (p.Met653Lys)
c.1766T>A (p.Met589Lys)
c.1657T>A
n.1532T>A
c.1916T>A (p.Met639Lys)
c.1736T>A (p.Met579Lys)
c.1724T>A (p.Met575Lys)
c.1541T>A (p.Met514Lys)
dbSNP gnomAD v3 gnomAD v4
1g.77942759T>CCA919012NEXNc.1958T>C (p.Met653Thr)
c.1766T>C (p.Met589Thr)
c.1657T>C
n.1532T>C
c.1916T>C (p.Met639Thr)
c.1736T>C (p.Met579Thr)
c.1724T>C (p.Met575Thr)
c.1541T>C (p.Met514Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942759T>GCA340883276NEXNc.1958T>G (p.Met653Arg)
c.1766T>G (p.Met589Arg)
c.1657T>G
n.1532T>G
c.1916T>G (p.Met639Arg)
c.1736T>G (p.Met579Arg)
c.1724T>G (p.Met575Arg)
c.1541T>G (p.Met514Arg)
1g.77942759T=CA1177631466NEXNc.1958T= (p.Met653=)
c.1766T= (p.Met589=)
c.1657T=
n.1532T=
c.1916T= (p.Met639=)
c.1736T= (p.Met579=)
c.1724T= (p.Met575=)
c.1541T= (p.Met514=)
1g.77942760G>ACA340883277NEXNc.1959G>A (p.Met653Ile)
c.1767G>A (p.Met589Ile)
c.1658G>A
n.1533G>A
c.1917G>A (p.Met639Ile)
c.1737G>A (p.Met579Ile)
c.1725G>A (p.Met575Ile)
c.1542G>A (p.Met514Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77942760G>CCA340883278NEXNc.1959G>C (p.Met653Ile)
c.1767G>C (p.Met589Ile)
c.1658G>C
n.1533G>C
c.1917G>C (p.Met639Ile)
c.1737G>C (p.Met579Ile)
c.1725G>C (p.Met575Ile)
c.1542G>C (p.Met514Ile)
1g.77942760G=CA1177631467NEXNc.1959G= (p.Met653=)
c.1767G= (p.Met589=)
c.1658G=
n.1533G=
c.1917G= (p.Met639=)
c.1737G= (p.Met579=)
c.1725G= (p.Met575=)
c.1542G= (p.Met514=)
1g.77942760G>TCA340883279NEXNc.1959G>T (p.Met653Ile)
c.1767G>T (p.Met589Ile)
c.1658G>T
n.1533G>T
c.1917G>T (p.Met639Ile)
c.1737G>T (p.Met579Ile)
c.1725G>T (p.Met575Ile)
c.1542G>T (p.Met514Ile)
1g.77942761T>ACA340883281NEXNc.1960T>A (p.Cys654Ser)
c.1768T>A (p.Cys590Ser)
c.1659T>A
n.1534T>A
c.1918T>A (p.Cys640Ser)
c.1738T>A (p.Cys580Ser)
c.1726T>A (p.Cys576Ser)
c.1543T>A (p.Cys515Ser)
1g.77942761T>CCA340883282NEXNc.1960T>C (p.Cys654Arg)
c.1768T>C (p.Cys590Arg)
c.1659T>C
n.1534T>C
c.1918T>C (p.Cys640Arg)
c.1738T>C (p.Cys580Arg)
c.1726T>C (p.Cys576Arg)
c.1543T>C (p.Cys515Arg)
1g.77942761T>GCA340883283NEXNc.1960T>G (p.Cys654Gly)
c.1768T>G (p.Cys590Gly)
c.1659T>G
n.1534T>G
c.1918T>G (p.Cys640Gly)
c.1738T>G (p.Cys580Gly)
c.1726T>G (p.Cys576Gly)
c.1543T>G (p.Cys515Gly)
1g.77942762G>ACA340883285NEXNc.1961G>A (p.Cys654Tyr)
c.1769G>A (p.Cys590Tyr)
c.1660G>A
n.1535G>A
c.1919G>A (p.Cys640Tyr)
c.1739G>A (p.Cys580Tyr)
c.1727G>A (p.Cys576Tyr)
c.1544G>A (p.Cys515Tyr)
1g.77942762G>CCA340883286NEXNc.1961G>C (p.Cys654Ser)
c.1769G>C (p.Cys590Ser)
c.1660G>C
n.1535G>C
c.1919G>C (p.Cys640Ser)
c.1739G>C (p.Cys580Ser)
c.1727G>C (p.Cys576Ser)
c.1544G>C (p.Cys515Ser)
1g.77942762G>TCA340883284NEXNc.1961G>T (p.Cys654Phe)
c.1769G>T (p.Cys590Phe)
c.1660G>T
n.1535G>T
c.1919G>T (p.Cys640Phe)
c.1739G>T (p.Cys580Phe)
c.1727G>T (p.Cys576Phe)
c.1544G>T (p.Cys515Phe)
1g.77942763T>ACA340883287NEXNc.1962T>A (p.Cys654Ter)
c.1770T>A (p.Cys590Ter)
c.1661T>A
n.1536T>A
c.1920T>A (p.Cys640Ter)
c.1740T>A (p.Cys580Ter)
c.1728T>A (p.Cys576Ter)
c.1545T>A (p.Cys515Ter)
1g.77942763T>CCA24692011NEXNc.1962T>C (p.Cys654=)
c.1770T>C (p.Cys590=)
c.1661T>C
n.1536T>C
c.1920T>C (p.Cys640=)
c.1740T>C (p.Cys580=)
c.1728T>C (p.Cys576=)
c.1545T>C (p.Cys515=)
dbSNP gnomAD v4
1g.77942763T>GCA340883288NEXNc.1962T>G (p.Cys654Trp)
c.1770T>G (p.Cys590Trp)
c.1661T>G
n.1536T>G
c.1920T>G (p.Cys640Trp)
c.1740T>G (p.Cys580Trp)
c.1728T>G (p.Cys576Trp)
c.1545T>G (p.Cys515Trp)
1g.77942763T=CA1177631468NEXNc.1962T= (p.Cys654=)
c.1770T= (p.Cys590=)
c.1661T=
n.1536T=
c.1920T= (p.Cys640=)
c.1740T= (p.Cys580=)
c.1728T= (p.Cys576=)
c.1545T= (p.Cys515=)
1g.77942764A>CCA340883289NEXNc.1963A>C (p.Lys655Gln)
c.1771A>C (p.Lys591Gln)
c.1662A>C
n.1537A>C
c.1921A>C (p.Lys641Gln)
c.1741A>C (p.Lys581Gln)
c.1729A>C (p.Lys577Gln)
c.1546A>C (p.Lys516Gln)
1g.77942764A>GCA340883290NEXNc.1963A>G (p.Lys655Glu)
c.1771A>G (p.Lys591Glu)
c.1662A>G
n.1537A>G
c.1921A>G (p.Lys641Glu)
c.1741A>G (p.Lys581Glu)
c.1729A>G (p.Lys577Glu)
c.1546A>G (p.Lys516Glu)
gnomAD v4
1g.77942764A>TCA340883291NEXNc.1963A>T (p.Lys655Ter)
c.1771A>T (p.Lys591Ter)
c.1662A>T
n.1537A>T
c.1921A>T (p.Lys641Ter)
c.1741A>T (p.Lys581Ter)
c.1729A>T (p.Lys577Ter)
c.1546A>T (p.Lys516Ter)
1g.77942765A>CCA340883292NEXNc.1964A>C (p.Lys655Thr)
c.1772A>C (p.Lys591Thr)
c.1663A>C
n.1538A>C
c.1922A>C (p.Lys641Thr)
c.1742A>C (p.Lys581Thr)
c.1730A>C (p.Lys577Thr)
c.1547A>C (p.Lys516Thr)
1g.77942765A>GCA340883293NEXNc.1964A>G (p.Lys655Arg)
c.1772A>G (p.Lys591Arg)
c.1663A>G
n.1538A>G
c.1922A>G (p.Lys641Arg)
c.1742A>G (p.Lys581Arg)
c.1730A>G (p.Lys577Arg)
c.1547A>G (p.Lys516Arg)
1g.77942765A>TCA340883294NEXNc.1964A>T (p.Lys655Ile)
c.1772A>T (p.Lys591Ile)
c.1663A>T
n.1538A>T
c.1922A>T (p.Lys641Ile)
c.1742A>T (p.Lys581Ile)
c.1730A>T (p.Lys577Ile)
c.1547A>T (p.Lys516Ile)
1g.77942766A=CA1177631469NEXNc.1965A= (p.Lys655=)
c.1773A= (p.Lys591=)
c.1664A=
n.1539A=
c.1923A= (p.Lys641=)
c.1743A= (p.Lys581=)
c.1731A= (p.Lys577=)
c.1548A= (p.Lys516=)
1g.77942766A>CCA340883295NEXNc.1965A>C (p.Lys655Asn)
c.1773A>C (p.Lys591Asn)
c.1664A>C
n.1539A>C
c.1923A>C (p.Lys641Asn)
c.1743A>C (p.Lys581Asn)
c.1731A>C (p.Lys577Asn)
c.1548A>C (p.Lys516Asn)
1g.77942766A>GCA919013NEXNc.1965A>G (p.Lys655=)
c.1773A>G (p.Lys591=)
c.1664A>G
n.1539A>G
c.1923A>G (p.Lys641=)
c.1743A>G (p.Lys581=)
c.1731A>G (p.Lys577=)
c.1548A>G (p.Lys516=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942766A>TCA340883296NEXNc.1965A>T (p.Lys655Asn)
c.1773A>T (p.Lys591Asn)
c.1664A>T
n.1539A>T
c.1923A>T (p.Lys641Asn)
c.1743A>T (p.Lys581Asn)
c.1731A>T (p.Lys577Asn)
c.1548A>T (p.Lys516Asn)
dbSNP
1g.77942767G>ACA340883297NEXNc.1966G>A (p.Ala656Thr)
c.1774G>A (p.Ala592Thr)
c.1665G>A
n.1540G>A
c.1924G>A (p.Ala642Thr)
c.1744G>A (p.Ala582Thr)
c.1732G>A (p.Ala578Thr)
c.1549G>A (p.Ala517Thr)
1g.77942767G>CCA340883298NEXNc.1966G>C (p.Ala656Pro)
c.1774G>C (p.Ala592Pro)
c.1665G>C
n.1540G>C
c.1924G>C (p.Ala642Pro)
c.1744G>C (p.Ala582Pro)
c.1732G>C (p.Ala578Pro)
c.1549G>C (p.Ala517Pro)
1g.77942767G>TCA340883299NEXNc.1966G>T (p.Ala656Ser)
c.1774G>T (p.Ala592Ser)
c.1665G>T
n.1540G>T
c.1924G>T (p.Ala642Ser)
c.1744G>T (p.Ala582Ser)
c.1732G>T (p.Ala578Ser)
c.1549G>T (p.Ala517Ser)
1g.77942768C>ACA340883302NEXNc.1967C>A (p.Ala656Glu)
c.1775C>A (p.Ala592Glu)
c.1666C>A
n.1541C>A
c.1925C>A (p.Ala642Glu)
c.1745C>A (p.Ala582Glu)
c.1733C>A (p.Ala578Glu)
c.1550C>A (p.Ala517Glu)
gnomAD v4
1g.77942768C>GCA340883300NEXNc.1967C>G (p.Ala656Gly)
c.1775C>G (p.Ala592Gly)
c.1666C>G
n.1541C>G
c.1925C>G (p.Ala642Gly)
c.1745C>G (p.Ala582Gly)
c.1733C>G (p.Ala578Gly)
c.1550C>G (p.Ala517Gly)
1g.77942768C>TCA340883301NEXNc.1967C>T (p.Ala656Val)
c.1775C>T (p.Ala592Val)
c.1666C>T
n.1541C>T
c.1925C>T (p.Ala642Val)
c.1745C>T (p.Ala582Val)
c.1733C>T (p.Ala578Val)
c.1550C>T (p.Ala517Val)
1g.77942769A>CCA418709835NEXNc.1968A>C (p.Ala656=)
c.1776A>C (p.Ala592=)
c.1667A>C
n.1542A>C
c.1926A>C (p.Ala642=)
c.1746A>C (p.Ala582=)
c.1734A>C (p.Ala578=)
c.1551A>C (p.Ala517=)
1g.77942769A>GCA418709836NEXNc.1968A>G (p.Ala656=)
c.1776A>G (p.Ala592=)
c.1667A>G
n.1542A>G
c.1926A>G (p.Ala642=)
c.1746A>G (p.Ala582=)
c.1734A>G (p.Ala578=)
c.1551A>G (p.Ala517=)
1g.77942769A>TCA418709837NEXNc.1968A>T (p.Ala656=)
c.1776A>T (p.Ala592=)
c.1667A>T
n.1542A>T
c.1926A>T (p.Ala642=)
c.1746A>T (p.Ala582=)
c.1734A>T (p.Ala578=)
c.1551A>T (p.Ala517=)
gnomAD v4
1g.77942770G>ACA340883303NEXNc.1969G>A (p.Val657Ile)
c.1777G>A (p.Val593Ile)
c.1668G>A
n.1543G>A
c.1927G>A (p.Val643Ile)
c.1747G>A (p.Val583Ile)
c.1735G>A (p.Val579Ile)
c.1552G>A (p.Val518Ile)
1g.77942770G>CCA340883304NEXNc.1969G>C (p.Val657Leu)
c.1777G>C (p.Val593Leu)
c.1668G>C
n.1543G>C
c.1927G>C (p.Val643Leu)
c.1747G>C (p.Val583Leu)
c.1735G>C (p.Val579Leu)
c.1552G>C (p.Val518Leu)
gnomAD v4
1g.77942770G>TCA340883305NEXNc.1969G>T (p.Val657Phe)
c.1777G>T (p.Val593Phe)
c.1668G>T
n.1543G>T
c.1927G>T (p.Val643Phe)
c.1747G>T (p.Val583Phe)
c.1735G>T (p.Val579Phe)
c.1552G>T (p.Val518Phe)
1g.77942771T>ACA340883306NEXNc.1970T>A (p.Val657Asp)
c.1778T>A (p.Val593Asp)
c.1669T>A
n.1544T>A
c.1928T>A (p.Val643Asp)
c.1748T>A (p.Val583Asp)
c.1736T>A (p.Val579Asp)
c.1553T>A (p.Val518Asp)
1g.77942771T>CCA340883307NEXNc.1970T>C (p.Val657Ala)
c.1778T>C (p.Val593Ala)
c.1669T>C
n.1544T>C
c.1928T>C (p.Val643Ala)
c.1748T>C (p.Val583Ala)
c.1736T>C (p.Val579Ala)
c.1553T>C (p.Val518Ala)
gnomAD v4
1g.77942771T>GCA340883308NEXNc.1970T>G (p.Val657Gly)
c.1778T>G (p.Val593Gly)
c.1669T>G
n.1544T>G
c.1928T>G (p.Val643Gly)
c.1748T>G (p.Val583Gly)
c.1736T>G (p.Val579Gly)
c.1553T>G (p.Val518Gly)
1g.77942772C>ACA418709840NEXNc.1971C>A (p.Val657=)
c.1779C>A (p.Val593=)
c.1670C>A
n.1545C>A
c.1929C>A (p.Val643=)
c.1749C>A (p.Val583=)
c.1737C>A (p.Val579=)
c.1554C>A (p.Val518=)
gnomAD v4
1g.77942772C>GCA418709841NEXNc.1971C>G (p.Val657=)
c.1779C>G (p.Val593=)
c.1670C>G
n.1545C>G
c.1929C>G (p.Val643=)
c.1749C>G (p.Val583=)
c.1737C>G (p.Val579=)
c.1554C>G (p.Val518=)
1g.77942772C>TCA418709842NEXNc.1971C>T (p.Val657=)
c.1779C>T (p.Val593=)
c.1670C>T
n.1545C>T
c.1929C>T (p.Val643=)
c.1749C>T (p.Val583=)
c.1737C>T (p.Val579=)
c.1554C>T (p.Val518=)
1g.77942773A>CCA340883309NEXNc.1972A>C (p.Asn658His)
c.1780A>C (p.Asn594His)
c.1671A>C
n.1546A>C
c.1930A>C (p.Asn644His)
c.1750A>C (p.Asn584His)
c.1738A>C (p.Asn580His)
c.1555A>C (p.Asn519His)
1g.77942773A>GCA340883310NEXNc.1972A>G (p.Asn658Asp)
c.1780A>G (p.Asn594Asp)
c.1671A>G
n.1546A>G
c.1930A>G (p.Asn644Asp)
c.1750A>G (p.Asn584Asp)
c.1738A>G (p.Asn580Asp)
c.1555A>G (p.Asn519Asp)
1g.77942773A>TCA340883311NEXNc.1972A>T (p.Asn658Tyr)
c.1780A>T (p.Asn594Tyr)
c.1671A>T
n.1546A>T
c.1930A>T (p.Asn644Tyr)
c.1750A>T (p.Asn584Tyr)
c.1738A>T (p.Asn580Tyr)
c.1555A>T (p.Asn519Tyr)
1g.77942774A>CCA340883312NEXNc.1973A>C (p.Asn658Thr)
c.1781A>C (p.Asn594Thr)
c.1672A>C
n.1547A>C
c.1931A>C (p.Asn644Thr)
c.1751A>C (p.Asn584Thr)
c.1739A>C (p.Asn580Thr)
c.1556A>C (p.Asn519Thr)
1g.77942774A>GCA340883313NEXNc.1973A>G (p.Asn658Ser)
c.1781A>G (p.Asn594Ser)
c.1672A>G
n.1547A>G
c.1931A>G (p.Asn644Ser)
c.1751A>G (p.Asn584Ser)
c.1739A>G (p.Asn580Ser)
c.1556A>G (p.Asn519Ser)
ClinVar
1g.77942774A>TCA340883314NEXNc.1973A>T (p.Asn658Ile)
c.1781A>T (p.Asn594Ile)
c.1672A>T
n.1547A>T
c.1931A>T (p.Asn644Ile)
c.1751A>T (p.Asn584Ile)
c.1739A>T (p.Asn580Ile)
c.1556A>T (p.Asn519Ile)
1g.77942775C>ACA340883317NEXNc.1974C>A (p.Asn658Lys)
c.1782C>A (p.Asn594Lys)
c.1673C>A
n.1548C>A
c.1932C>A (p.Asn644Lys)
c.1752C>A (p.Asn584Lys)
c.1740C>A (p.Asn580Lys)
c.1557C>A (p.Asn519Lys)
1g.77942775C>GCA340883315NEXNc.1974C>G (p.Asn658Lys)
c.1782C>G (p.Asn594Lys)
c.1673C>G
n.1548C>G
c.1932C>G (p.Asn644Lys)
c.1752C>G (p.Asn584Lys)
c.1740C>G (p.Asn580Lys)
c.1557C>G (p.Asn519Lys)
1g.77942775C>TCA418709847NEXNc.1974C>T (p.Asn658=)
c.1782C>T (p.Asn594=)
c.1673C>T
n.1548C>T
c.1932C>T (p.Asn644=)
c.1752C>T (p.Asn584=)
c.1740C>T (p.Asn580=)
c.1557C>T (p.Asn519=)
dbSNP
1g.77942776A>CCA340883319NEXNc.1975A>C (p.Asn659His)
c.1783A>C (p.Asn595His)
c.1674A>C
n.1549A>C
c.1933A>C (p.Asn645His)
c.1753A>C (p.Asn585His)
c.1741A>C (p.Asn581His)
c.1558A>C (p.Asn520His)
1g.77942776A>GCA340883321NEXNc.1975A>G (p.Asn659Asp)
c.1783A>G (p.Asn595Asp)
c.1674A>G
n.1549A>G
c.1933A>G (p.Asn645Asp)
c.1753A>G (p.Asn585Asp)
c.1741A>G (p.Asn581Asp)
c.1558A>G (p.Asn520Asp)
1g.77942776A>TCA340883322NEXNc.1975A>T (p.Asn659Tyr)
c.1783A>T (p.Asn595Tyr)
c.1674A>T
n.1549A>T
c.1933A>T (p.Asn645Tyr)
c.1753A>T (p.Asn585Tyr)
c.1741A>T (p.Asn581Tyr)
c.1558A>T (p.Asn520Tyr)
1g.77942777A=CA1143720788NEXNc.1976A= (p.Asn659=)
c.1784A= (p.Asn595=)
c.1675A=
n.1550A=
c.1934A= (p.Asn645=)
c.1754A= (p.Asn585=)
c.1742A= (p.Asn581=)
c.1559A= (p.Asn520=)
1g.77942777A>CCA340883324NEXNc.1976A>C (p.Asn659Thr)
c.1784A>C (p.Asn595Thr)
c.1675A>C
n.1550A>C
c.1934A>C (p.Asn645Thr)
c.1754A>C (p.Asn585Thr)
c.1742A>C (p.Asn581Thr)
c.1559A>C (p.Asn520Thr)
1g.77942777A>GCA24692031NEXNc.1976A>G (p.Asn659Ser)
c.1784A>G (p.Asn595Ser)
c.1675A>G
n.1550A>G
c.1934A>G (p.Asn645Ser)
c.1754A>G (p.Asn585Ser)
c.1742A>G (p.Asn581Ser)
c.1559A>G (p.Asn520Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77942777A>TCA340883327NEXNc.1976A>T (p.Asn659Ile)
c.1784A>T (p.Asn595Ile)
c.1675A>T
n.1550A>T
c.1934A>T (p.Asn645Ile)
c.1754A>T (p.Asn585Ile)
c.1742A>T (p.Asn581Ile)
c.1559A>T (p.Asn520Ile)
1g.77942778T>ACA340883329NEXNc.1977T>A (p.Asn659Lys)
c.1785T>A (p.Asn595Lys)
c.1676T>A
n.1551T>A
c.1935T>A (p.Asn645Lys)
c.1755T>A (p.Asn585Lys)
c.1743T>A (p.Asn581Lys)
c.1560T>A (p.Asn520Lys)
1g.77942778T>CCA418709851NEXNc.1977T>C (p.Asn659=)
c.1785T>C (p.Asn595=)
c.1676T>C
n.1551T>C
c.1935T>C (p.Asn645=)
c.1755T>C (p.Asn585=)
c.1743T>C (p.Asn581=)
c.1560T>C (p.Asn520=)
1g.77942778T>GCA340883331NEXNc.1977T>G (p.Asn659Lys)
c.1785T>G (p.Asn595Lys)
c.1676T>G
n.1551T>G
c.1935T>G (p.Asn645Lys)
c.1755T>G (p.Asn585Lys)
c.1743T>G (p.Asn581Lys)
c.1560T>G (p.Asn520Lys)
1g.77942779A>CCA340883333NEXNc.1978A>C (p.Lys660Gln)
c.1786A>C (p.Lys596Gln)
c.1677A>C
n.1552A>C
c.1936A>C (p.Lys646Gln)
c.1756A>C (p.Lys586Gln)
c.1744A>C (p.Lys582Gln)
c.1561A>C (p.Lys521Gln)
1g.77942779A>GCA340883335NEXNc.1978A>G (p.Lys660Glu)
c.1786A>G (p.Lys596Glu)
c.1677A>G
n.1552A>G
c.1936A>G (p.Lys646Glu)
c.1756A>G (p.Lys586Glu)
c.1744A>G (p.Lys582Glu)
c.1561A>G (p.Lys521Glu)
1g.77942779A>TCA340883336NEXNc.1978A>T (p.Lys660Ter)
c.1786A>T (p.Lys596Ter)
c.1677A>T
n.1552A>T
c.1936A>T (p.Lys646Ter)
c.1756A>T (p.Lys586Ter)
c.1744A>T (p.Lys582Ter)
c.1561A>T (p.Lys521Ter)
1g.77942780A>CCA340883338NEXNc.1979A>C (p.Lys660Thr)
c.1787A>C (p.Lys596Thr)
c.1678A>C
n.1553A>C
c.1937A>C (p.Lys646Thr)
c.1757A>C (p.Lys586Thr)
c.1745A>C (p.Lys582Thr)
c.1562A>C (p.Lys521Thr)
1g.77942780A>GCA340883340NEXNc.1979A>G (p.Lys660Arg)
c.1787A>G (p.Lys596Arg)
c.1678A>G
n.1553A>G
c.1937A>G (p.Lys646Arg)
c.1757A>G (p.Lys586Arg)
c.1745A>G (p.Lys582Arg)
c.1562A>G (p.Lys521Arg)
1g.77942780A>TCA340883342NEXNc.1979A>T (p.Lys660Ile)
c.1787A>T (p.Lys596Ile)
c.1678A>T
n.1553A>T
c.1937A>T (p.Lys646Ile)
c.1757A>T (p.Lys586Ile)
c.1745A>T (p.Lys582Ile)
c.1562A>T (p.Lys521Ile)
1g.77942781A>CCA340883344NEXNc.1980A>C (p.Lys660Asn)
c.1788A>C (p.Lys596Asn)
c.1679A>C
n.1554A>C
c.1938A>C (p.Lys646Asn)
c.1758A>C (p.Lys586Asn)
c.1746A>C (p.Lys582Asn)
c.1563A>C (p.Lys521Asn)
1g.77942781A>GCA418709863NEXNc.1980A>G (p.Lys660=)
c.1788A>G (p.Lys596=)
c.1679A>G
n.1554A>G
c.1938A>G (p.Lys646=)
c.1758A>G (p.Lys586=)
c.1746A>G (p.Lys582=)
c.1563A>G (p.Lys521=)
1g.77942781A>TCA340883345NEXNc.1980A>T (p.Lys660Asn)
c.1788A>T (p.Lys596Asn)
c.1679A>T
n.1554A>T
c.1938A>T (p.Lys646Asn)
c.1758A>T (p.Lys586Asn)
c.1746A>T (p.Lys582Asn)
c.1563A>T (p.Lys521Asn)
1g.77942782G>ACA10576435NEXNc.1981G>A (p.Gly661Arg)
c.1789G>A (p.Gly597Arg)
c.1680G>A
n.1555G>A
c.1939G>A (p.Gly647Arg)
c.1759G>A (p.Gly587Arg)
c.1747G>A (p.Gly583Arg)
c.1564G>A (p.Gly522Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77942782G>CCA340883349NEXNc.1981G>C (p.Gly661Arg)
c.1789G>C (p.Gly597Arg)
c.1680G>C
n.1555G>C
c.1939G>C (p.Gly647Arg)
c.1759G>C (p.Gly587Arg)
c.1747G>C (p.Gly583Arg)
c.1564G>C (p.Gly522Arg)
1g.77942782G=CA1177631470NEXNc.1981G= (p.Gly661=)
c.1789G= (p.Gly597=)
c.1680G=
n.1555G=
c.1939G= (p.Gly647=)
c.1759G= (p.Gly587=)
c.1747G= (p.Gly583=)
c.1564G= (p.Gly522=)
1g.77942782G>TCA340883351NEXNc.1981G>T (p.Gly661Ter)
c.1789G>T (p.Gly597Ter)
c.1680G>T
n.1555G>T
c.1939G>T (p.Gly647Ter)
c.1759G>T (p.Gly587Ter)
c.1747G>T (p.Gly583Ter)
c.1564G>T (p.Gly522Ter)
1g.77942783G>ACA340883353NEXNc.1982G>A (p.Gly661Glu)
c.1790G>A (p.Gly597Glu)
c.1681G>A
n.1556G>A
c.1940G>A (p.Gly647Glu)
c.1760G>A (p.Gly587Glu)
c.1748G>A (p.Gly583Glu)
c.1565G>A (p.Gly522Glu)
1g.77942783G>CCA340883355NEXNc.1982G>C (p.Gly661Ala)
c.1790G>C (p.Gly597Ala)
c.1681G>C
n.1556G>C
c.1940G>C (p.Gly647Ala)
c.1760G>C (p.Gly587Ala)
c.1748G>C (p.Gly583Ala)
c.1565G>C (p.Gly522Ala)
1g.77942783G>TCA340883356NEXNc.1982G>T (p.Gly661Val)
c.1790G>T (p.Gly597Val)
c.1681G>T
n.1556G>T
c.1940G>T (p.Gly647Val)
c.1760G>T (p.Gly587Val)
c.1748G>T (p.Gly583Val)
c.1565G>T (p.Gly522Val)
1g.77942784A>CCA418709865NEXNc.1983A>C (p.Gly661=)
c.1791A>C (p.Gly597=)
c.1682A>C
n.1557A>C
c.1941A>C (p.Gly647=)
c.1761A>C (p.Gly587=)
c.1749A>C (p.Gly583=)
c.1566A>C (p.Gly522=)
1g.77942784A>GCA418709867NEXNc.1983A>G (p.Gly661=)
c.1791A>G (p.Gly597=)
c.1682A>G
n.1557A>G
c.1941A>G (p.Gly647=)
c.1761A>G (p.Gly587=)
c.1749A>G (p.Gly583=)
c.1566A>G (p.Gly522=)
1g.77942784A>TCA418709866NEXNc.1983A>T (p.Gly661=)
c.1791A>T (p.Gly597=)
c.1682A>T
n.1557A>T
c.1941A>T (p.Gly647=)
c.1761A>T (p.Gly587=)
c.1749A>T (p.Gly583=)
c.1566A>T (p.Gly522=)
1g.77942785T>ACA340883662NEXNc.1984T>A (p.Ser662Thr)
c.1792T>A (p.Ser598Thr)
c.1683T>A
n.1558T>A
c.1942T>A (p.Ser648Thr)
c.1762T>A (p.Ser588Thr)
c.1750T>A (p.Ser584Thr)
c.1567T>A (p.Ser523Thr)
1g.77942785T>CCA340883663NEXNc.1984T>C (p.Ser662Pro)
c.1792T>C (p.Ser598Pro)
c.1683T>C
n.1558T>C
c.1942T>C (p.Ser648Pro)
c.1762T>C (p.Ser588Pro)
c.1750T>C (p.Ser584Pro)
c.1567T>C (p.Ser523Pro)
1g.77942785T>GCA340883664NEXNc.1984T>G (p.Ser662Ala)
c.1792T>G (p.Ser598Ala)
c.1683T>G
n.1558T>G
c.1942T>G (p.Ser648Ala)
c.1762T>G (p.Ser588Ala)
c.1750T>G (p.Ser584Ala)
c.1567T>G (p.Ser523Ala)
1g.77942786C>ACA340883666NEXNc.1985C>A (p.Ser662Tyr)
c.1793C>A (p.Ser598Tyr)
c.1684C>A
n.1559C>A
c.1943C>A (p.Ser648Tyr)
c.1763C>A (p.Ser588Tyr)
c.1751C>A (p.Ser584Tyr)
c.1568C>A (p.Ser523Tyr)
1g.77942786C=CA1177631471NEXNc.1985C= (p.Ser662=)
c.1793C= (p.Ser598=)
c.1684C=
n.1559C=
c.1943C= (p.Ser648=)
c.1763C= (p.Ser588=)
c.1751C= (p.Ser584=)
c.1568C= (p.Ser523=)
1g.77942786C>GCA340883668NEXNc.1985C>G (p.Ser662Cys)
c.1793C>G (p.Ser598Cys)
c.1684C>G
n.1559C>G
c.1943C>G (p.Ser648Cys)
c.1763C>G (p.Ser588Cys)
c.1751C>G (p.Ser584Cys)
c.1568C>G (p.Ser523Cys)
dbSNP gnomAD v3 gnomAD v4
1g.77942786C>TCA340883669NEXNc.1985C>T (p.Ser662Phe)
c.1793C>T (p.Ser598Phe)
c.1684C>T
n.1559C>T
c.1943C>T (p.Ser648Phe)
c.1763C>T (p.Ser588Phe)
c.1751C>T (p.Ser584Phe)
c.1568C>T (p.Ser523Phe)
1g.77942787T>ACA418574038NEXNc.1986T>A (p.Ser662=)
c.1794T>A (p.Ser598=)
c.1685T>A
n.1560T>A
c.1944T>A (p.Ser648=)
c.1764T>A (p.Ser588=)
c.1752T>A (p.Ser584=)
c.1569T>A (p.Ser523=)
1g.77942787T>CCA418574037NEXNc.1986T>C (p.Ser662=)
c.1794T>C (p.Ser598=)
c.1685T>C
n.1560T>C
c.1944T>C (p.Ser648=)
c.1764T>C (p.Ser588=)
c.1752T>C (p.Ser584=)
c.1569T>C (p.Ser523=)
1g.77942787T>GCA418574036NEXNc.1986T>G (p.Ser662=)
c.1794T>G (p.Ser598=)
c.1685T>G
n.1560T>G
c.1944T>G (p.Ser648=)
c.1764T>G (p.Ser588=)
c.1752T>G (p.Ser584=)
c.1569T>G (p.Ser523=)
1g.77942788G>ACA340883674NEXNc.1987G>A (p.Ala663Thr)
c.1795G>A (p.Ala599Thr)
c.1686G>A
n.1561G>A
c.1945G>A (p.Ala649Thr)
c.1765G>A (p.Ala589Thr)
c.1753G>A (p.Ala585Thr)
c.1570G>A (p.Ala524Thr)
1g.77942788G>CCA340883672NEXNc.1987G>C (p.Ala663Pro)
c.1795G>C (p.Ala599Pro)
c.1686G>C
n.1561G>C
c.1945G>C (p.Ala649Pro)
c.1765G>C (p.Ala589Pro)
c.1753G>C (p.Ala585Pro)
c.1570G>C (p.Ala524Pro)
COSMIC COSMIC
1g.77942788G>TCA340883670NEXNc.1987G>T (p.Ala663Ser)
c.1795G>T (p.Ala599Ser)
c.1686G>T
n.1561G>T
c.1945G>T (p.Ala649Ser)
c.1765G>T (p.Ala589Ser)
c.1753G>T (p.Ala585Ser)
c.1570G>T (p.Ala524Ser)
1g.77942789C>ACA340883675NEXNc.1988C>A (p.Ala663Glu)
c.1796C>A (p.Ala599Glu)
c.1687C>A
n.1562C>A
c.1946C>A (p.Ala649Glu)
c.1766C>A (p.Ala589Glu)
c.1754C>A (p.Ala585Glu)
c.1571C>A (p.Ala524Glu)
1g.77942789C>GCA340883677NEXNc.1988C>G (p.Ala663Gly)
c.1796C>G (p.Ala599Gly)
c.1687C>G
n.1562C>G
c.1946C>G (p.Ala649Gly)
c.1766C>G (p.Ala589Gly)
c.1754C>G (p.Ala585Gly)
c.1571C>G (p.Ala524Gly)
1g.77942789C>TCA340883676NEXNc.1988C>T (p.Ala663Val)
c.1796C>T (p.Ala599Val)
c.1687C>T
n.1562C>T
c.1946C>T (p.Ala649Val)
c.1766C>T (p.Ala589Val)
c.1754C>T (p.Ala585Val)
c.1571C>T (p.Ala524Val)
1g.77942790A=CA1177631472NEXNc.1989A= (p.Ala663=)
c.1797A= (p.Ala599=)
c.1688A=
n.1563A=
c.1947A= (p.Ala649=)
c.1767A= (p.Ala589=)
c.1755A= (p.Ala585=)
c.1572A= (p.Ala524=)
1g.77942790A>CCA418574039NEXNc.1989A>C (p.Ala663=)
c.1797A>C (p.Ala599=)
c.1688A>C
n.1563A>C
c.1947A>C (p.Ala649=)
c.1767A>C (p.Ala589=)
c.1755A>C (p.Ala585=)
c.1572A>C (p.Ala524=)
1g.77942790A>GCA418574041NEXNc.1989A>G (p.Ala663=)
c.1797A>G (p.Ala599=)
c.1688A>G
n.1563A>G
c.1947A>G (p.Ala649=)
c.1767A>G (p.Ala589=)
c.1755A>G (p.Ala585=)
c.1572A>G (p.Ala524=)
1g.77942790A>TCA418574040NEXNc.1989A>T (p.Ala663=)
c.1797A>T (p.Ala599=)
c.1688A>T
n.1563A>T
c.1947A>T (p.Ala649=)
c.1767A>T (p.Ala589=)
c.1755A>T (p.Ala585=)
c.1572A>T (p.Ala524=)
dbSNP
1g.77942791G>ACA340883678NEXNc.1990G>A (p.Ala664Thr)
c.1798G>A (p.Ala600Thr)
c.1689G>A
n.1564G>A
c.1948G>A (p.Ala650Thr)
c.1768G>A (p.Ala590Thr)
c.1756G>A (p.Ala586Thr)
c.1573G>A (p.Ala525Thr)
1g.77942791G>CCA340883682NEXNc.1990G>C (p.Ala664Pro)
c.1798G>C (p.Ala600Pro)
c.1689G>C
n.1564G>C
c.1948G>C (p.Ala650Pro)
c.1768G>C (p.Ala590Pro)
c.1756G>C (p.Ala586Pro)
c.1573G>C (p.Ala525Pro)
1g.77942791G>TCA340883680NEXNc.1990G>T (p.Ala664Ser)
c.1798G>T (p.Ala600Ser)
c.1689G>T
n.1564G>T
c.1948G>T (p.Ala650Ser)
c.1768G>T (p.Ala590Ser)
c.1756G>T (p.Ala586Ser)
c.1573G>T (p.Ala525Ser)
1g.77942792C>ACA340883683NEXNc.1991C>A (p.Ala664Asp)
c.1799C>A (p.Ala600Asp)
c.1690C>A
n.1565C>A
c.1949C>A (p.Ala650Asp)
c.1769C>A (p.Ala590Asp)
c.1757C>A (p.Ala586Asp)
c.1574C>A (p.Ala525Asp)
1g.77942792C=CA1177631473NEXNc.1991C= (p.Ala664=)
c.1799C= (p.Ala600=)
c.1690C=
n.1565C=
c.1949C= (p.Ala650=)
c.1769C= (p.Ala590=)
c.1757C= (p.Ala586=)
c.1574C= (p.Ala525=)
1g.77942792C>GCA340883685NEXNc.1991C>G (p.Ala664Gly)
c.1799C>G (p.Ala600Gly)
c.1690C>G
n.1565C>G
c.1949C>G (p.Ala650Gly)
c.1769C>G (p.Ala590Gly)
c.1757C>G (p.Ala586Gly)
c.1574C>G (p.Ala525Gly)
dbSNP gnomAD v2 gnomAD v4
1g.77942792C>TCA340883686NEXNc.1991C>T (p.Ala664Val)
c.1799C>T (p.Ala600Val)
c.1690C>T
n.1565C>T
c.1949C>T (p.Ala650Val)
c.1769C>T (p.Ala590Val)
c.1757C>T (p.Ala586Val)
c.1574C>T (p.Ala525Val)
1g.77942793T>ACA418574042NEXNc.1992T>A (p.Ala664=)
c.1800T>A (p.Ala600=)
c.1691T>A
n.1566T>A
c.1950T>A (p.Ala650=)
c.1770T>A (p.Ala590=)
c.1758T>A (p.Ala586=)
c.1575T>A (p.Ala525=)
1g.77942793T>CCA418574043NEXNc.1992T>C (p.Ala664=)
c.1800T>C (p.Ala600=)
c.1691T>C
n.1566T>C
c.1950T>C (p.Ala650=)
c.1770T>C (p.Ala590=)
c.1758T>C (p.Ala586=)
c.1575T>C (p.Ala525=)
1g.77942793T>GCA418574044NEXNc.1992T>G (p.Ala664=)
c.1800T>G (p.Ala600=)
c.1691T>G
n.1566T>G
c.1950T>G (p.Ala650=)
c.1770T>G (p.Ala590=)
c.1758T>G (p.Ala586=)
c.1575T>G (p.Ala525=)
1g.77942794A=CA1177631474NEXNc.1993A= (p.Ser665=)
c.1801A= (p.Ser601=)
c.1692A=
n.1567A=
c.1951A= (p.Ser651=)
c.1771A= (p.Ser591=)
c.1759A= (p.Ser587=)
c.1576A= (p.Ser526=)
1g.77942794A>CCA340883688NEXNc.1993A>C (p.Ser665Arg)
c.1801A>C (p.Ser601Arg)
c.1692A>C
n.1567A>C
c.1951A>C (p.Ser651Arg)
c.1771A>C (p.Ser591Arg)
c.1759A>C (p.Ser587Arg)
c.1576A>C (p.Ser526Arg)
1g.77942794A>GCA340883689NEXNc.1993A>G (p.Ser665Gly)
c.1801A>G (p.Ser601Gly)
c.1692A>G
n.1567A>G
c.1951A>G (p.Ser651Gly)
c.1771A>G (p.Ser591Gly)
c.1759A>G (p.Ser587Gly)
c.1576A>G (p.Ser526Gly)
1g.77942794A>TCA340883691NEXNc.1993A>T (p.Ser665Cys)
c.1801A>T (p.Ser601Cys)
c.1692A>T
n.1567A>T
c.1951A>T (p.Ser651Cys)
c.1771A>T (p.Ser591Cys)
c.1759A>T (p.Ser587Cys)
c.1576A>T (p.Ser526Cys)
dbSNP
1g.77942795G>ACA919014NEXNc.1994G>A (p.Ser665Asn)
c.1802G>A (p.Ser601Asn)
c.1693G>A
n.1568G>A
c.1952G>A (p.Ser651Asn)
c.1772G>A (p.Ser591Asn)
c.1760G>A (p.Ser587Asn)
c.1577G>A (p.Ser526Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.77942795G>CCA340883693NEXNc.1994G>C (p.Ser665Thr)
c.1802G>C (p.Ser601Thr)
c.1693G>C
n.1568G>C
c.1952G>C (p.Ser651Thr)
c.1772G>C (p.Ser591Thr)
c.1760G>C (p.Ser587Thr)
c.1577G>C (p.Ser526Thr)
1g.77942795G=CA1177631475NEXNc.1994G= (p.Ser665=)
c.1802G= (p.Ser601=)
c.1693G=
n.1568G=
c.1952G= (p.Ser651=)
c.1772G= (p.Ser591=)
c.1760G= (p.Ser587=)
c.1577G= (p.Ser526=)
1g.77942795G>TCA919015NEXNc.1994G>T (p.Ser665Ile)
c.1802G>T (p.Ser601Ile)
c.1693G>T
n.1568G>T
c.1952G>T (p.Ser651Ile)
c.1772G>T (p.Ser591Ile)
c.1760G>T (p.Ser587Ile)
c.1577G>T (p.Ser526Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942796T>ACA340883695NEXNc.1995T>A (p.Ser665Arg)
c.1803T>A (p.Ser601Arg)
c.1694T>A
n.1569T>A
c.1953T>A (p.Ser651Arg)
c.1773T>A (p.Ser591Arg)
c.1761T>A (p.Ser587Arg)
c.1578T>A (p.Ser526Arg)
1g.77942796T>CCA919016NEXNc.1995T>C (p.Ser665=)
c.1803T>C (p.Ser601=)
c.1694T>C
n.1569T>C
c.1953T>C (p.Ser651=)
c.1773T>C (p.Ser591=)
c.1761T>C (p.Ser587=)
c.1578T>C (p.Ser526=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77942796T>GCA340883696NEXNc.1995T>G (p.Ser665Arg)
c.1803T>G (p.Ser601Arg)
c.1694T>G
n.1569T>G
c.1953T>G (p.Ser651Arg)
c.1773T>G (p.Ser591Arg)
c.1761T>G (p.Ser587Arg)
c.1578T>G (p.Ser526Arg)
1g.77942796T=CA1177631476NEXNc.1995T= (p.Ser665=)
c.1803T= (p.Ser601=)
c.1694T=
n.1569T=
c.1953T= (p.Ser651=)
c.1773T= (p.Ser591=)
c.1761T= (p.Ser587=)
c.1578T= (p.Ser526=)
1g.77942797A=CA1143965877NEXNc.1996A= (p.Thr666=)
c.1804A= (p.Thr602=)
c.1695A=
n.1570A=
c.1954A= (p.Thr652=)
c.1774A= (p.Thr592=)
c.1762A= (p.Thr588=)
c.1579A= (p.Thr527=)
1g.77942797A>CCA340883698NEXNc.1996A>C (p.Thr666Pro)
c.1804A>C (p.Thr602Pro)
c.1695A>C
n.1570A>C
c.1954A>C (p.Thr652Pro)
c.1774A>C (p.Thr592Pro)
c.1762A>C (p.Thr588Pro)
c.1579A>C (p.Thr527Pro)
1g.77942797A>GCA142145NEXNc.1996A>G (p.Thr666Ala)
c.1804A>G (p.Thr602Ala)
c.1695A>G
n.1570A>G
c.1954A>G (p.Thr652Ala)
c.1774A>G (p.Thr592Ala)
c.1762A>G (p.Thr588Ala)
c.1579A>G (p.Thr527Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942797A>TCA340883700NEXNc.1996A>T (p.Thr666Ser)
c.1804A>T (p.Thr602Ser)
c.1695A>T
n.1570A>T
c.1954A>T (p.Thr652Ser)
c.1774A>T (p.Thr592Ser)
c.1762A>T (p.Thr588Ser)
c.1579A>T (p.Thr527Ser)
1g.77942798C>ACA919017NEXNc.1997C>A (p.Thr666Asn)
c.1805C>A (p.Thr602Asn)
c.1696C>A
n.1571C>A
c.1955C>A (p.Thr652Asn)
c.1775C>A (p.Thr592Asn)
c.1763C>A (p.Thr588Asn)
c.1580C>A (p.Thr527Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942798C=CA1149104937NEXNc.1997C= (p.Thr666=)
c.1805C= (p.Thr602=)
c.1696C=
n.1571C=
c.1955C= (p.Thr652=)
c.1775C= (p.Thr592=)
c.1763C= (p.Thr588=)
c.1580C= (p.Thr527=)
1g.77942798C>GCA340883703NEXNc.1997C>G (p.Thr666Ser)
c.1805C>G (p.Thr602Ser)
c.1696C>G
n.1571C>G
c.1955C>G (p.Thr652Ser)
c.1775C>G (p.Thr592Ser)
c.1763C>G (p.Thr588Ser)
c.1580C>G (p.Thr527Ser)
dbSNP
1g.77942798C>TCA340883702NEXNc.1997C>T (p.Thr666Ile)
c.1805C>T (p.Thr602Ile)
c.1696C>T
n.1571C>T
c.1955C>T (p.Thr652Ile)
c.1775C>T (p.Thr592Ile)
c.1763C>T (p.Thr588Ile)
c.1580C>T (p.Thr527Ile)
dbSNP gnomAD v3 gnomAD v4
1g.77942799C>ACA418574045NEXNc.1998C>A (p.Thr666=)
c.1806C>A (p.Thr602=)
c.1697C>A
n.1572C>A
c.1956C>A (p.Thr652=)
c.1776C>A (p.Thr592=)
c.1764C>A (p.Thr588=)
c.1581C>A (p.Thr527=)
gnomAD v4
1g.77942799C>GCA418574046NEXNc.1998C>G (p.Thr666=)
c.1806C>G (p.Thr602=)
c.1697C>G
n.1572C>G
c.1956C>G (p.Thr652=)
c.1776C>G (p.Thr592=)
c.1764C>G (p.Thr588=)
c.1581C>G (p.Thr527=)
1g.77942799C>TCA418574047NEXNc.1998C>T (p.Thr666=)
c.1806C>T (p.Thr602=)
c.1697C>T
n.1572C>T
c.1956C>T (p.Thr652=)
c.1776C>T (p.Thr592=)
c.1764C>T (p.Thr588=)
c.1581C>T (p.Thr527=)
1g.77942800T>ACA340883708NEXNc.1999T>A (p.Cys667Ser)
c.1807T>A (p.Cys603Ser)
c.1698T>A
n.1573T>A
c.1957T>A (p.Cys653Ser)
c.1777T>A (p.Cys593Ser)
c.1765T>A (p.Cys589Ser)
c.1582T>A (p.Cys528Ser)
1g.77942800T>CCA340883709NEXNc.1999T>C (p.Cys667Arg)
c.1807T>C (p.Cys603Arg)
c.1698T>C
n.1573T>C
c.1957T>C (p.Cys653Arg)
c.1777T>C (p.Cys593Arg)
c.1765T>C (p.Cys589Arg)
c.1582T>C (p.Cys528Arg)
1g.77942800T>GCA340883710NEXNc.1999T>G (p.Cys667Gly)
c.1807T>G (p.Cys603Gly)
c.1698T>G
n.1573T>G
c.1957T>G (p.Cys653Gly)
c.1777T>G (p.Cys593Gly)
c.1765T>G (p.Cys589Gly)
c.1582T>G (p.Cys528Gly)
1g.77942801G>ACA335448NEXNc.2000G>A (p.Cys667Tyr)
c.1808G>A (p.Cys603Tyr)
c.1699G>A
n.1574G>A
c.1958G>A (p.Cys653Tyr)
c.1778G>A (p.Cys593Tyr)
c.1766G>A (p.Cys589Tyr)
c.1583G>A (p.Cys528Tyr)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77942801G>CCA340883715NEXNc.2000G>C (p.Cys667Ser)
c.1808G>C (p.Cys603Ser)
c.1699G>C
n.1574G>C
c.1958G>C (p.Cys653Ser)
c.1778G>C (p.Cys593Ser)
c.1766G>C (p.Cys589Ser)
c.1583G>C (p.Cys528Ser)
1g.77942801G=CA1177631477NEXNc.2000G= (p.Cys667=)
c.1808G= (p.Cys603=)
c.1699G=
n.1574G=
c.1958G= (p.Cys653=)
c.1778G= (p.Cys593=)
c.1766G= (p.Cys589=)
c.1583G= (p.Cys528=)
1g.77942801G>TCA340883718NEXNc.2000G>T (p.Cys667Phe)
c.1808G>T (p.Cys603Phe)
c.1699G>T
n.1574G>T
c.1958G>T (p.Cys653Phe)
c.1778G>T (p.Cys593Phe)
c.1766G>T (p.Cys589Phe)
c.1583G>T (p.Cys528Phe)
1g.77942802T>ACA340883721NEXNc.2001T>A (p.Cys667Ter)
c.1809T>A (p.Cys603Ter)
c.1700T>A
n.1575T>A
c.1959T>A (p.Cys653Ter)
c.1779T>A (p.Cys593Ter)
c.1767T>A (p.Cys589Ter)
c.1584T>A (p.Cys528Ter)
1g.77942802T>CCA418574048NEXNc.2001T>C (p.Cys667=)
c.1809T>C (p.Cys603=)
c.1700T>C
n.1575T>C
c.1959T>C (p.Cys653=)
c.1779T>C (p.Cys593=)
c.1767T>C (p.Cys589=)
c.1584T>C (p.Cys528=)
dbSNP gnomAD v4
1g.77942802T>GCA340883723NEXNc.2001T>G (p.Cys667Trp)
c.1809T>G (p.Cys603Trp)
c.1700T>G
n.1575T>G
c.1959T>G (p.Cys653Trp)
c.1779T>G (p.Cys593Trp)
c.1767T>G (p.Cys589Trp)
c.1584T>G (p.Cys528Trp)
1g.77942802T=CA1177631478NEXNc.2001T= (p.Cys667=)
c.1809T= (p.Cys603=)
c.1700T=
n.1575T=
c.1959T= (p.Cys653=)
c.1779T= (p.Cys593=)
c.1767T= (p.Cys589=)
c.1584T= (p.Cys528=)
1g.77942802dupCA340883719NEXNc.2001dup (p.Ile668TyrfsTer5)
c.1809dup (p.Ile604TyrfsTer5)
c.1700dup
n.1575dup
c.1959dup (p.Ile654TyrfsTer5)
c.1779dup (p.Ile594TyrfsTer5)
c.1767dup (p.Ile590TyrfsTer5)
c.1584dup (p.Ile529TyrfsTer5)
ClinVar dbSNP gnomAD v4
1g.77942803A=CA1177631479NEXNc.2002A= (p.Ile668=)
c.1810A= (p.Ile604=)
c.1701A=
n.1576A=
c.1960A= (p.Ile654=)
c.1780A= (p.Ile594=)
c.1768A= (p.Ile590=)
c.1585A= (p.Ile529=)
1g.77942803A>CCA340883725NEXNc.2002A>C (p.Ile668Leu)
c.1810A>C (p.Ile604Leu)
c.1701A>C
n.1576A>C
c.1960A>C (p.Ile654Leu)
c.1780A>C (p.Ile594Leu)
c.1768A>C (p.Ile590Leu)
c.1585A>C (p.Ile529Leu)
1g.77942803A>GCA919018NEXNc.2002A>G (p.Ile668Val)
c.1810A>G (p.Ile604Val)
c.1701A>G
n.1576A>G
c.1960A>G (p.Ile654Val)
c.1780A>G (p.Ile594Val)
c.1768A>G (p.Ile590Val)
c.1585A>G (p.Ile529Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942803A>TCA340883726NEXNc.2002A>T (p.Ile668Phe)
c.1810A>T (p.Ile604Phe)
c.1701A>T
n.1576A>T
c.1960A>T (p.Ile654Phe)
c.1780A>T (p.Ile594Phe)
c.1768A>T (p.Ile590Phe)
c.1585A>T (p.Ile529Phe)
1g.77942804T>ACA340883732NEXNc.2003T>A (p.Ile668Asn)
c.1811T>A (p.Ile604Asn)
c.1702T>A
n.1577T>A
c.1961T>A (p.Ile654Asn)
c.1781T>A (p.Ile594Asn)
c.1769T>A (p.Ile590Asn)
c.1586T>A (p.Ile529Asn)
1g.77942804T>CCA340883728NEXNc.2003T>C (p.Ile668Thr)
c.1811T>C (p.Ile604Thr)
c.1702T>C
n.1577T>C
c.1961T>C (p.Ile654Thr)
c.1781T>C (p.Ile594Thr)
c.1769T>C (p.Ile590Thr)
c.1586T>C (p.Ile529Thr)
gnomAD v4
1g.77942804T>GCA340883730NEXNc.2003T>G (p.Ile668Ser)
c.1811T>G (p.Ile604Ser)
c.1702T>G
n.1577T>G
c.1961T>G (p.Ile654Ser)
c.1781T>G (p.Ile594Ser)
c.1769T>G (p.Ile590Ser)
c.1586T>G (p.Ile529Ser)
1g.77942805T>ACA418574049NEXNc.2004T>A (p.Ile668=)
c.1812T>A (p.Ile604=)
c.1703T>A
n.1578T>A
c.1962T>A (p.Ile654=)
c.1782T>A (p.Ile594=)
c.1770T>A (p.Ile590=)
c.1587T>A (p.Ile529=)
1g.77942805T>CCA418574050NEXNc.2004T>C (p.Ile668=)
c.1812T>C (p.Ile604=)
c.1703T>C
n.1578T>C
c.1962T>C (p.Ile654=)
c.1782T>C (p.Ile594=)
c.1770T>C (p.Ile590=)
c.1587T>C (p.Ile529=)
gnomAD v4
1g.77942805T>GCA340883733NEXNc.2004T>G (p.Ile668Met)
c.1812T>G (p.Ile604Met)
c.1703T>G
n.1578T>G
c.1962T>G (p.Ile654Met)
c.1782T>G (p.Ile594Met)
c.1770T>G (p.Ile590Met)
c.1587T>G (p.Ile529Met)
1g.77942806C>ACA340883734NEXNc.2005C>A (p.Leu669Ile)
c.1813C>A (p.Leu605Ile)
c.1704C>A
n.1579C>A
c.1963C>A (p.Leu655Ile)
c.1783C>A (p.Leu595Ile)
c.1771C>A (p.Leu591Ile)
c.1588C>A (p.Leu530Ile)
gnomAD v4
1g.77942806C=CA1177631480NEXNc.2005C= (p.Leu669=)
c.1813C= (p.Leu605=)
c.1704C=
n.1579C=
c.1963C= (p.Leu655=)
c.1783C= (p.Leu595=)
c.1771C= (p.Leu591=)
c.1588C= (p.Leu530=)
1g.77942806C>GCA340883737NEXNc.2005C>G (p.Leu669Val)
c.1813C>G (p.Leu605Val)
c.1704C>G
n.1579C>G
c.1963C>G (p.Leu655Val)
c.1783C>G (p.Leu595Val)
c.1771C>G (p.Leu591Val)
c.1588C>G (p.Leu530Val)
1g.77942806C>TCA919019NEXNc.2005C>T (p.Leu669Phe)
c.1813C>T (p.Leu605Phe)
c.1704C>T
n.1579C>T
c.1963C>T (p.Leu655Phe)
c.1783C>T (p.Leu595Phe)
c.1771C>T (p.Leu591Phe)
c.1588C>T (p.Leu530Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942807T>ACA340883739NEXNc.2006T>A (p.Leu669His)
c.1814T>A (p.Leu605His)
c.1705T>A
n.1580T>A
c.1964T>A (p.Leu655His)
c.1784T>A (p.Leu595His)
c.1772T>A (p.Leu591His)
c.1589T>A (p.Leu530His)
1g.77942807T>CCA340883740NEXNc.2006T>C (p.Leu669Pro)
c.1814T>C (p.Leu605Pro)
c.1705T>C
n.1580T>C
c.1964T>C (p.Leu655Pro)
c.1784T>C (p.Leu595Pro)
c.1772T>C (p.Leu591Pro)
c.1589T>C (p.Leu530Pro)
dbSNP gnomAD v3 gnomAD v4
1g.77942807T>GCA340883741NEXNc.2006T>G (p.Leu669Arg)
c.1814T>G (p.Leu605Arg)
c.1705T>G
n.1580T>G
c.1964T>G (p.Leu655Arg)
c.1784T>G (p.Leu595Arg)
c.1772T>G (p.Leu591Arg)
c.1589T>G (p.Leu530Arg)
1g.77942807T=CA1177631481NEXNc.2006T= (p.Leu669=)
c.1814T= (p.Leu605=)
c.1705T=
n.1580T=
c.1964T= (p.Leu655=)
c.1784T= (p.Leu595=)
c.1772T= (p.Leu591=)
c.1589T= (p.Leu530=)
1g.77942808T>ACA418574051NEXNc.2007T>A (p.Leu669=)
c.1815T>A (p.Leu605=)
c.1706T>A
n.1581T>A
c.1965T>A (p.Leu655=)
c.1785T>A (p.Leu595=)
c.1773T>A (p.Leu591=)
c.1590T>A (p.Leu530=)
1g.77942808T>CCA24692104NEXNc.2007T>C (p.Leu669=)
c.1815T>C (p.Leu605=)
c.1706T>C
n.1581T>C
c.1965T>C (p.Leu655=)
c.1785T>C (p.Leu595=)
c.1773T>C (p.Leu591=)
c.1590T>C (p.Leu530=)
dbSNP
1g.77942808T>GCA418574052NEXNc.2007T>G (p.Leu669=)
c.1815T>G (p.Leu605=)
c.1706T>G
n.1581T>G
c.1965T>G (p.Leu655=)
c.1785T>G (p.Leu595=)
c.1773T>G (p.Leu591=)
c.1590T>G (p.Leu530=)
1g.77942808T=CA1177631482NEXNc.2007T= (p.Leu669=)
c.1815T= (p.Leu605=)
c.1706T=
n.1581T=
c.1965T= (p.Leu655=)
c.1785T= (p.Leu595=)
c.1773T= (p.Leu591=)
c.1590T= (p.Leu530=)
1g.77942809A=CA1177631483NEXNc.2008A= (p.Thr670=)
c.1816A= (p.Thr606=)
c.1707A=
n.1582A=
c.1966A= (p.Thr656=)
c.1786A= (p.Thr596=)
c.1774A= (p.Thr592=)
c.1591A= (p.Thr531=)
1g.77942809A>CCA340883742NEXNc.2008A>C (p.Thr670Pro)
c.1816A>C (p.Thr606Pro)
c.1707A>C
n.1582A>C
c.1966A>C (p.Thr656Pro)
c.1786A>C (p.Thr596Pro)
c.1774A>C (p.Thr592Pro)
c.1591A>C (p.Thr531Pro)
1g.77942809A>GCA340883743NEXNc.2008A>G (p.Thr670Ala)
c.1816A>G (p.Thr606Ala)
c.1707A>G
n.1582A>G
c.1966A>G (p.Thr656Ala)
c.1786A>G (p.Thr596Ala)
c.1774A>G (p.Thr592Ala)
c.1591A>G (p.Thr531Ala)
1g.77942809A>TCA340883744NEXNc.2008A>T (p.Thr670Ser)
c.1816A>T (p.Thr606Ser)
c.1707A>T
n.1582A>T
c.1966A>T (p.Thr656Ser)
c.1786A>T (p.Thr596Ser)
c.1774A>T (p.Thr592Ser)
c.1591A>T (p.Thr531Ser)
ClinVar dbSNP
1g.77942810C>ACA340883746NEXNc.2009C>A (p.Thr670Asn)
c.1817C>A (p.Thr606Asn)
c.1708C>A
n.1583C>A
c.1967C>A (p.Thr656Asn)
c.1787C>A (p.Thr596Asn)
c.1775C>A (p.Thr592Asn)
c.1592C>A (p.Thr531Asn)
1g.77942810C=CA1177631484NEXNc.2009C= (p.Thr670=)
c.1817C= (p.Thr606=)
c.1708C=
n.1583C=
c.1967C= (p.Thr656=)
c.1787C= (p.Thr596=)
c.1775C= (p.Thr592=)
c.1592C= (p.Thr531=)
1g.77942810C>GCA340883749NEXNc.2009C>G (p.Thr670Ser)
c.1817C>G (p.Thr606Ser)
c.1708C>G
n.1583C>G
c.1967C>G (p.Thr656Ser)
c.1787C>G (p.Thr596Ser)
c.1775C>G (p.Thr592Ser)
c.1592C>G (p.Thr531Ser)
gnomAD v4
1g.77942810C>TCA340883750NEXNc.2009C>T (p.Thr670Ile)
c.1817C>T (p.Thr606Ile)
c.1708C>T
n.1583C>T
c.1967C>T (p.Thr656Ile)
c.1787C>T (p.Thr596Ile)
c.1775C>T (p.Thr592Ile)
c.1592C>T (p.Thr531Ile)
dbSNP gnomAD v3 gnomAD v4
1g.77942811C>ACA418574053NEXNc.2010C>A (p.Thr670=)
c.1818C>A (p.Thr606=)
c.1709C>A
n.1584C>A
c.1968C>A (p.Thr656=)
c.1788C>A (p.Thr596=)
c.1776C>A (p.Thr592=)
c.1593C>A (p.Thr531=)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.77942811C=CA1177631485NEXNc.2010C= (p.Thr670=)
c.1818C= (p.Thr606=)
c.1709C=
n.1584C=
c.1968C= (p.Thr656=)
c.1788C= (p.Thr596=)
c.1776C= (p.Thr592=)
c.1593C= (p.Thr531=)
1g.77942811C>GCA418574055NEXNc.2010C>G (p.Thr670=)
c.1818C>G (p.Thr606=)
c.1709C>G
n.1584C>G
c.1968C>G (p.Thr656=)
c.1788C>G (p.Thr596=)
c.1776C>G (p.Thr592=)
c.1593C>G (p.Thr531=)
1g.77942811C>TCA418574054NEXNc.2010C>T (p.Thr670=)
c.1818C>T (p.Thr606=)
c.1709C>T
n.1584C>T
c.1968C>T (p.Thr656=)
c.1788C>T (p.Thr596=)
c.1776C>T (p.Thr592=)
c.1593C>T (p.Thr531=)
gnomAD v4
1g.77942812A=CA1177631486NEXNc.2011A= (p.Ile671=)
c.1819A= (p.Ile607=)
c.1710A=
n.1585A=
c.1969A= (p.Ile657=)
c.1789A= (p.Ile597=)
c.1777A= (p.Ile593=)
c.1594A= (p.Ile532=)
1g.77942812A>CCA340883753NEXNc.2011A>C (p.Ile671Leu)
c.1819A>C (p.Ile607Leu)
c.1710A>C
n.1585A>C
c.1969A>C (p.Ile657Leu)
c.1789A>C (p.Ile597Leu)
c.1777A>C (p.Ile593Leu)
c.1594A>C (p.Ile532Leu)
1g.77942812A>GCA340883751NEXNc.2011A>G (p.Ile671Val)
c.1819A>G (p.Ile607Val)
c.1710A>G
n.1585A>G
c.1969A>G (p.Ile657Val)
c.1789A>G (p.Ile597Val)
c.1777A>G (p.Ile593Val)
c.1594A>G (p.Ile532Val)
dbSNP gnomAD v2 gnomAD v4
1g.77942812A>TCA340883752NEXNc.2011A>T (p.Ile671Phe)
c.1819A>T (p.Ile607Phe)
c.1710A>T
n.1585A>T
c.1969A>T (p.Ile657Phe)
c.1789A>T (p.Ile597Phe)
c.1777A>T (p.Ile593Phe)
c.1594A>T (p.Ile532Phe)
1g.77942813T>ACA340883755NEXNc.2012T>A (p.Ile671Asn)
c.1820T>A (p.Ile607Asn)
c.1711T>A
n.1586T>A
c.1970T>A (p.Ile657Asn)
c.1790T>A (p.Ile597Asn)
c.1778T>A (p.Ile593Asn)
c.1595T>A (p.Ile532Asn)
ClinVar
1g.77942813T>CCA919020NEXNc.2012T>C (p.Ile671Thr)
c.1820T>C (p.Ile607Thr)
c.1711T>C
n.1586T>C
c.1970T>C (p.Ile657Thr)
c.1790T>C (p.Ile597Thr)
c.1778T>C (p.Ile593Thr)
c.1595T>C (p.Ile532Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.77942813T>GCA340883756NEXNc.2012T>G (p.Ile671Ser)
c.1820T>G (p.Ile607Ser)
c.1711T>G
n.1586T>G
c.1970T>G (p.Ile657Ser)
c.1790T>G (p.Ile597Ser)
c.1778T>G (p.Ile593Ser)
c.1595T>G (p.Ile532Ser)
1g.77942813T=CA1148561787NEXNc.2012T= (p.Ile671=)
c.1820T= (p.Ile607=)
c.1711T=
n.1586T=
c.1970T= (p.Ile657=)
c.1790T= (p.Ile597=)
c.1778T= (p.Ile593=)
c.1595T= (p.Ile532=)
1g.77942814T>ACA418574056NEXNc.2013T>A (p.Ile671=)
c.1821T>A (p.Ile607=)
c.1712T>A
n.1587T>A
c.1971T>A (p.Ile657=)
c.1791T>A (p.Ile597=)
c.1779T>A (p.Ile593=)
c.1596T>A (p.Ile532=)
1g.77942814T>CCA418574057NEXNc.2013T>C (p.Ile671=)
c.1821T>C (p.Ile607=)
c.1712T>C
n.1587T>C
c.1971T>C (p.Ile657=)
c.1791T>C (p.Ile597=)
c.1779T>C (p.Ile593=)
c.1596T>C (p.Ile532=)
1g.77942814T>GCA340883757NEXNc.2013T>G (p.Ile671Met)
c.1821T>G (p.Ile607Met)
c.1712T>G
n.1587T>G
c.1971T>G (p.Ile657Met)
c.1791T>G (p.Ile597Met)
c.1779T>G (p.Ile593Met)
c.1596T>G (p.Ile532Met)
1g.77942815G>ACA919021NEXNc.2014G>A (p.Glu672Lys)
c.1822G>A (p.Glu608Lys)
c.1713G>A
n.1588G>A
c.1972G>A (p.Glu658Lys)
c.1792G>A (p.Glu598Lys)
c.1780G>A (p.Glu594Lys)
c.1597G>A (p.Glu533Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942815G>CCA340883758NEXNc.2014G>C (p.Glu672Gln)
c.1822G>C (p.Glu608Gln)
c.1713G>C
n.1588G>C
c.1972G>C (p.Glu658Gln)
c.1792G>C (p.Glu598Gln)
c.1780G>C (p.Glu594Gln)
c.1597G>C (p.Glu533Gln)
dbSNP gnomAD v3 gnomAD v4
1g.77942815G=CA1177626020NEXNc.2014G= (p.Glu672=)
c.1822G= (p.Glu608=)
c.1713G=
n.1588G=
c.1972G= (p.Glu658=)
c.1792G= (p.Glu598=)
c.1780G= (p.Glu594=)
c.1597G= (p.Glu533=)
1g.77942815G>TCA340883759NEXNc.2014G>T (p.Glu672Ter)
c.1822G>T (p.Glu608Ter)
c.1713G>T
n.1588G>T
c.1972G>T (p.Glu658Ter)
c.1792G>T (p.Glu598Ter)
c.1780G>T (p.Glu594Ter)
c.1597G>T (p.Glu533Ter)
1g.77942816A=CA1177626044NEXNc.2015A= (p.Glu672=)
c.1823A= (p.Glu608=)
c.1714A=
n.1589A=
c.1973A= (p.Glu658=)
c.1793A= (p.Glu598=)
c.1781A= (p.Glu594=)
c.1598A= (p.Glu533=)
1g.77942816A>CCA340883760NEXNc.2015A>C (p.Glu672Ala)
c.1823A>C (p.Glu608Ala)
c.1714A>C
n.1589A>C
c.1973A>C (p.Glu658Ala)
c.1793A>C (p.Glu598Ala)
c.1781A>C (p.Glu594Ala)
c.1598A>C (p.Glu533Ala)
1g.77942816A>GCA10576436NEXNc.2015A>G (p.Glu672Gly)
c.1823A>G (p.Glu608Gly)
c.1714A>G
n.1589A>G
c.1973A>G (p.Glu658Gly)
c.1793A>G (p.Glu598Gly)
c.1781A>G (p.Glu594Gly)
c.1598A>G (p.Glu533Gly)
ClinVar dbSNP gnomAD v4
1g.77942816A>TCA340883761NEXNc.2015A>T (p.Glu672Val)
c.1823A>T (p.Glu608Val)
c.1714A>T
n.1589A>T
c.1973A>T (p.Glu658Val)
c.1793A>T (p.Glu598Val)
c.1781A>T (p.Glu594Val)
c.1598A>T (p.Glu533Val)
1g.77942816_77942818delCA2646275700NEXNc.2015_2017del (p.Glu672_Ser673delinsGly)
c.1823_1825del (p.Glu608_Ser609delinsGly)
c.1714_1716del
n.1589_1591del
c.2015_2017del (p.Glu672_Thr673delinsAla)
c.1973_1975del (p.Glu658_Thr659delinsAla)
c.1823_1825del (p.Glu608_Thr609delinsAla)
c.1793_1795del (p.Glu598_Thr599delinsAla)
c.1781_1783del (p.Glu594_Thr595delinsAla)
c.1598_1600del (p.Glu533_Thr534delinsAla)
gnomAD v4
1g.77942817A>CCA340883762NEXNc.2016A>C (p.Glu672Asp)
c.1824A>C (p.Glu608Asp)
c.1715A>C
n.1590A>C
c.1974A>C (p.Glu658Asp)
c.1794A>C (p.Glu598Asp)
c.1782A>C (p.Glu594Asp)
c.1599A>C (p.Glu533Asp)
1g.77942817A>GCA418574058NEXNc.2016A>G (p.Glu672=)
c.1824A>G (p.Glu608=)
c.1715A>G
n.1590A>G
c.1974A>G (p.Glu658=)
c.1794A>G (p.Glu598=)
c.1782A>G (p.Glu594=)
c.1599A>G (p.Glu533=)
1g.77942817A>TCA340883763NEXNc.2016A>T (p.Glu672Asp)
c.1824A>T (p.Glu608Asp)
c.1715A>T
n.1590A>T
c.1974A>T (p.Glu658Asp)
c.1794A>T (p.Glu598Asp)
c.1782A>T (p.Glu594Asp)
c.1599A>T (p.Glu533Asp)
1g.77942817_77942820delinsAAGTCA1177626053NEXNc.2016_2019delinsAAGT (p.Glu672=)
c.1824_1827delinsAAGT (p.Glu608=)
c.1715_1716+2delinsAAGT
n.1590_1593delinsAAGT
c.2016_2017+2delinsAAGT
c.1974_1975+2delinsAAGT
c.1824_1825+2delinsAAGT
c.1794_1795+2delinsAAGT
c.1782_1783+2delinsAAGT
c.1599_1600+2delinsAAGT
1g.77942820_77942823delCA2574166335NEXNc.2019_2022del (p.Ser673ArgfsTer12)
c.1827_1830del (p.Ser609ArgfsTer12)
c.1716+2_1716+5del
n.1593_1596del
c.2017+2_2017+5del
c.1975+2_1975+5del
c.1825+2_1825+5del
c.1795+2_1795+5del
c.1783+2_1783+5del
c.1600+2_1600+5del
ClinVar gnomAD v4
1g.77942818A=CA1177626061NEXNc.2017A= (p.Ser673=)
c.1825A= (p.Ser609=)
c.1716A=
n.1591A=
c.2017A= (p.Thr673=)
c.1975A= (p.Thr659=)
c.1825A= (p.Thr609=)
c.1795A= (p.Thr599=)
c.1783A= (p.Thr595=)
c.1600A= (p.Thr534=)
1g.77942818A>CCA340883764NEXNc.2017A>C (p.Ser673Arg)
c.1825A>C (p.Ser609Arg)
c.1716A>C
n.1591A>C
c.2017A>C (p.Thr673Pro)
c.1975A>C (p.Thr659Pro)
c.1825A>C (p.Thr609Pro)
c.1795A>C (p.Thr599Pro)
c.1783A>C (p.Thr595Pro)
c.1600A>C (p.Thr534Pro)
1g.77942818A>GCA340883766NEXNc.2017A>G (p.Ser673Gly)
c.1825A>G (p.Ser609Gly)
c.1716A>G
n.1591A>G
c.2017A>G (p.Thr673Ala)
c.1975A>G (p.Thr659Ala)
c.1825A>G (p.Thr609Ala)
c.1795A>G (p.Thr599Ala)
c.1783A>G (p.Thr595Ala)
c.1600A>G (p.Thr534Ala)
ClinVar dbSNP gnomAD v4
1g.77942818A>TCA340883765NEXNc.2017A>T (p.Ser673Cys)
c.1825A>T (p.Ser609Cys)
c.1716A>T
n.1591A>T
c.2017A>T (p.Thr673Ser)
c.1975A>T (p.Thr659Ser)
c.1825A>T (p.Thr609Ser)
c.1795A>T (p.Thr599Ser)
c.1783A>T (p.Thr595Ser)
c.1600A>T (p.Thr534Ser)
1g.77942819_77942821delCA523842787NEXNc.2018_2020del (p.Ser673del)
c.1826_1828del (p.Ser609del)
c.1716+1_1716+3del
n.1592_1594del
c.2017+1_2017+3del
c.1975+1_1975+3del
c.1825+1_1825+3del
c.1795+1_1795+3del
c.1783+1_1783+3del
c.1600+1_1600+3del
dbSNP gnomAD v2
1g.77942819G>ACA340883767NEXNc.2018G>A (p.Ser673Asn)
c.1826G>A (p.Ser609Asn)
c.1716+1G>A
n.1592G>A
c.2017+1G>A (n.2017+1G>A)
c.1975+1G>A (n.1975+1G>A)
c.1825+1G>A (n.1825+1G>A)
c.1795+1G>A (n.1795+1G>A)
c.1783+1G>A (n.1783+1G>A)
c.1600+1G>A (n.1600+1G>A)
dbSNP gnomAD v2 gnomAD v4
1g.77942819G>CCA24692129NEXNc.2018G>C (p.Ser673Thr)
c.1826G>C (p.Ser609Thr)
c.1716+1G>C
n.1592G>C
c.2017+1G>C (n.2017+1G>C)
c.1975+1G>C (n.1975+1G>C)
c.1825+1G>C (n.1825+1G>C)
c.1795+1G>C (n.1795+1G>C)
c.1783+1G>C (n.1783+1G>C)
c.1600+1G>C (n.1600+1G>C)
dbSNP
1g.77942819G=CA1141331387NEXNc.2018G= (p.Ser673=)
c.1826G= (p.Ser609=)
c.1716+1G=
n.1592G=
c.2017+1G= (n.2017+1G=)
c.1975+1G= (n.1975+1G=)
c.1825+1G= (n.1825+1G=)
c.1795+1G= (n.1795+1G=)
c.1783+1G= (n.1783+1G=)
c.1600+1G= (n.1600+1G=)
1g.77942819G>TCA340883768NEXNc.2018G>T (p.Ser673Ile)
c.1826G>T (p.Ser609Ile)
c.1716+1G>T
n.1592G>T
c.2017+1G>T (n.2017+1G>T)
c.1975+1G>T (n.1975+1G>T)
c.1825+1G>T (n.1825+1G>T)
c.1795+1G>T (n.1795+1G>T)
c.1783+1G>T (n.1783+1G>T)
c.1600+1G>T (n.1600+1G>T)
1g.77942820T>ACA919022NEXNc.2019T>A (p.Ser673Arg)
c.1827T>A (p.Ser609Arg)
c.1716+2T>A
n.1593T>A
c.2017+2T>A (n.2017+2T>A)
c.1975+2T>A (n.1975+2T>A)
c.1825+2T>A (n.1825+2T>A)
c.1795+2T>A (n.1795+2T>A)
c.1783+2T>A (n.1783+2T>A)
c.1600+2T>A (n.1600+2T>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77942820T>CCA418574059NEXNc.2019T>C (p.Ser673=)
c.1827T>C (p.Ser609=)
c.1716+2T>C
n.1593T>C
c.2017+2T>C (n.2017+2T>C)
c.1975+2T>C (n.1975+2T>C)
c.1825+2T>C (n.1825+2T>C)
c.1795+2T>C (n.1795+2T>C)
c.1783+2T>C (n.1783+2T>C)
c.1600+2T>C (n.1600+2T>C)
dbSNP gnomAD v4
1g.77942820T>GCA340883769NEXNc.2019T>G (p.Ser673Arg)
c.1827T>G (p.Ser609Arg)
c.1716+2T>G
n.1593T>G
c.2017+2T>G (n.2017+2T>G)
c.1975+2T>G (n.1975+2T>G)
c.1825+2T>G (n.1825+2T>G)
c.1795+2T>G (n.1795+2T>G)
c.1783+2T>G (n.1783+2T>G)
c.1600+2T>G (n.1600+2T>G)
dbSNP gnomAD v4
1g.77942820T=CA1145182124NEXNc.2019T= (p.Ser673=)
c.1827T= (p.Ser609=)
c.1716+2T=
n.1593T=
c.2017+2T= (n.2017+2T=)
c.1975+2T= (n.1975+2T=)
c.1825+2T= (n.1825+2T=)
c.1795+2T= (n.1795+2T=)
c.1783+2T= (n.1783+2T=)
c.1600+2T= (n.1600+2T=)
1g.77942821A>CCA340883770NEXNc.2020A>C (p.Lys674Gln)
c.1828A>C (p.Lys610Gln)
c.1716+3A>C
n.1594A>C
c.2017+3A>C (n.2017+3A>C)
c.1975+3A>C (n.1975+3A>C)
c.1825+3A>C (n.1825+3A>C)
c.1795+3A>C (n.1795+3A>C)
c.1783+3A>C (n.1783+3A>C)
c.1600+3A>C (n.1600+3A>C)
1g.77942821A>GCA340883771NEXNc.2020A>G (p.Lys674Glu)
c.1828A>G (p.Lys610Glu)
c.1716+3A>G
n.1594A>G
c.2017+3A>G (n.2017+3A>G)
c.1975+3A>G (n.1975+3A>G)
c.1825+3A>G (n.1825+3A>G)
c.1795+3A>G (n.1795+3A>G)
c.1783+3A>G (n.1783+3A>G)
c.1600+3A>G (n.1600+3A>G)
1g.77942821A>TCA340883772NEXNc.2020A>T (p.Lys674Ter)
c.1828A>T (p.Lys610Ter)
c.1716+3A>T
n.1594A>T
c.2017+3A>T (n.2017+3A>T)
c.1975+3A>T (n.1975+3A>T)
c.1825+3A>T (n.1825+3A>T)
c.1795+3A>T (n.1795+3A>T)
c.1783+3A>T (n.1783+3A>T)
c.1600+3A>T (n.1600+3A>T)
1g.77942822A=CA1177626081NEXNc.2021A= (p.Lys674=)
c.1829A= (p.Lys610=)
c.1716+4A=
n.1595A=
c.2017+4A= (n.2017+4A=)
c.1975+4A= (n.1975+4A=)
c.1825+4A= (n.1825+4A=)
c.1795+4A= (n.1795+4A=)
c.1783+4A= (n.1783+4A=)
c.1600+4A= (n.1600+4A=)
1g.77942822A>CCA10610758NEXNc.2021A>C (p.Lys674Thr)
c.1829A>C (p.Lys610Thr)
c.1716+4A>C
n.1595A>C
c.2017+4A>C (n.2017+4A>C)
c.1975+4A>C (n.1975+4A>C)
c.1825+4A>C (n.1825+4A>C)
c.1795+4A>C (n.1795+4A>C)
c.1783+4A>C (n.1783+4A>C)
c.1600+4A>C (n.1600+4A>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.77942822A>GCA340883773NEXNc.2021A>G (p.Lys674Arg)
c.1829A>G (p.Lys610Arg)
c.1716+4A>G
n.1595A>G
c.2017+4A>G (n.2017+4A>G)
c.1975+4A>G (n.1975+4A>G)
c.1825+4A>G (n.1825+4A>G)
c.1795+4A>G (n.1795+4A>G)
c.1783+4A>G (n.1783+4A>G)
c.1600+4A>G (n.1600+4A>G)
gnomAD v4
1g.77942822A>TCA340883774NEXNc.2021A>T (p.Lys674Met)
c.1829A>T (p.Lys610Met)
c.1716+4A>T
n.1595A>T
c.2017+4A>T (n.2017+4A>T)
c.1975+4A>T (n.1975+4A>T)
c.1825+4A>T (n.1825+4A>T)
c.1795+4A>T (n.1795+4A>T)
c.1783+4A>T (n.1783+4A>T)
c.1600+4A>T (n.1600+4A>T)

Number of alleles fetched