Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.101473654G>ACA382440282TRPC6c.1864C>T (p.Pro622Ser)
c.1516C>T (p.Pro506Ser)
c.1699C>T (p.Pro567Ser)
c.1630C>T (p.Pro544Ser)
n.2220C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.101473654G>CCA382440284TRPC6c.1864C>G (p.Pro622Ala)
c.1516C>G (p.Pro506Ala)
c.1699C>G (p.Pro567Ala)
c.1630C>G (p.Pro544Ala)
n.2220C>G
11g.101473654G=CA1995831448TRPC6c.1864C= (p.Pro622=)
c.1516C= (p.Pro506=)
c.1699C= (p.Pro567=)
c.1630C= (p.Pro544=)
n.2220C=
11g.101473654G>TCA382440283TRPC6c.1864C>A (p.Pro622Thr)
c.1516C>A (p.Pro506Thr)
c.1699C>A (p.Pro567Thr)
c.1630C>A (p.Pro544Thr)
n.2220C>A
11g.101473655T>ACA476546361TRPC6c.1863A>T (p.Gly621=)
c.1515A>T (p.Gly505=)
c.1698A>T (p.Gly566=)
c.1629A>T (p.Gly543=)
n.2219A>T
11g.101473655T>CCA476546363TRPC6c.1863A>G (p.Gly621=)
c.1515A>G (p.Gly505=)
c.1698A>G (p.Gly566=)
c.1629A>G (p.Gly543=)
n.2219A>G
11g.101473655T>GCA476546362TRPC6c.1863A>C (p.Gly621=)
c.1515A>C (p.Gly505=)
c.1698A>C (p.Gly566=)
c.1629A>C (p.Gly543=)
n.2219A>C
11g.101473656C>ACA382440285TRPC6c.1862G>T (p.Gly621Val)
c.1514G>T (p.Gly505Val)
c.1697G>T (p.Gly566Val)
c.1628G>T (p.Gly543Val)
n.2218G>T
11g.101473656C>GCA382440286TRPC6c.1862G>C (p.Gly621Ala)
c.1514G>C (p.Gly505Ala)
c.1697G>C (p.Gly566Ala)
c.1628G>C (p.Gly543Ala)
n.2218G>C
11g.101473656C>TCA382440287TRPC6c.1862G>A (p.Gly621Glu)
c.1514G>A (p.Gly505Glu)
c.1697G>A (p.Gly566Glu)
c.1628G>A (p.Gly543Glu)
n.2218G>A
11g.101473657C>ACA382440288TRPC6c.1861G>T (p.Gly621Ter)
c.1513G>T (p.Gly505Ter)
c.1696G>T (p.Gly566Ter)
c.1627G>T (p.Gly543Ter)
n.2217G>T
11g.101473657C>GCA382440289TRPC6c.1861G>C (p.Gly621Arg)
c.1513G>C (p.Gly505Arg)
c.1696G>C (p.Gly566Arg)
c.1627G>C (p.Gly543Arg)
n.2217G>C
11g.101473657C>TCA382440290TRPC6c.1861G>A (p.Gly621Arg)
c.1513G>A (p.Gly505Arg)
c.1696G>A (p.Gly566Arg)
c.1627G>A (p.Gly543Arg)
n.2217G>A
11g.101473658A>CCA382440291TRPC6c.1860T>G (p.Phe620Leu)
c.1512T>G (p.Phe504Leu)
c.1695T>G (p.Phe565Leu)
c.1626T>G (p.Phe542Leu)
n.2216T>G
11g.101473658A>GCA476546366TRPC6c.1860T>C (p.Phe620=)
c.1512T>C (p.Phe504=)
c.1695T>C (p.Phe565=)
c.1626T>C (p.Phe542=)
n.2216T>C
11g.101473658A>TCA382440292TRPC6c.1860T>A (p.Phe620Leu)
c.1512T>A (p.Phe504Leu)
c.1695T>A (p.Phe565Leu)
c.1626T>A (p.Phe542Leu)
n.2216T>A
11g.101473659A>CCA382440293TRPC6c.1859T>G (p.Phe620Cys)
c.1511T>G (p.Phe504Cys)
c.1694T>G (p.Phe565Cys)
c.1625T>G (p.Phe542Cys)
n.2215T>G
11g.101473659A>GCA382440294TRPC6c.1859T>C (p.Phe620Ser)
c.1511T>C (p.Phe504Ser)
c.1694T>C (p.Phe565Ser)
c.1625T>C (p.Phe542Ser)
n.2215T>C
11g.101473659A>TCA382440295TRPC6c.1859T>A (p.Phe620Tyr)
c.1511T>A (p.Phe504Tyr)
c.1694T>A (p.Phe565Tyr)
c.1625T>A (p.Phe542Tyr)
n.2215T>A
11g.101473660A>CCA382440296TRPC6c.1858T>G (p.Phe620Val)
c.1510T>G (p.Phe504Val)
c.1693T>G (p.Phe565Val)
c.1624T>G (p.Phe542Val)
n.2214T>G
11g.101473660A>GCA382440298TRPC6c.1858T>C (p.Phe620Leu)
c.1510T>C (p.Phe504Leu)
c.1693T>C (p.Phe565Leu)
c.1624T>C (p.Phe542Leu)
n.2214T>C
11g.101473660A>TCA382440297TRPC6c.1858T>A (p.Phe620Ile)
c.1510T>A (p.Phe504Ile)
c.1693T>A (p.Phe565Ile)
c.1624T>A (p.Phe542Ile)
n.2214T>A
11g.101473661G>ACA476546369TRPC6c.1857C>T (p.Ser619=)
c.1509C>T (p.Ser503=)
c.1692C>T (p.Ser564=)
c.1623C>T (p.Ser541=)
n.2213C>T
11g.101473661G>CCA382440299TRPC6c.1857C>G (p.Ser619Arg)
c.1509C>G (p.Ser503Arg)
c.1692C>G (p.Ser564Arg)
c.1623C>G (p.Ser541Arg)
n.2213C>G
11g.101473661G>TCA382440300TRPC6c.1857C>A (p.Ser619Arg)
c.1509C>A (p.Ser503Arg)
c.1692C>A (p.Ser564Arg)
c.1623C>A (p.Ser541Arg)
n.2213C>A
11g.101473662C>ACA382440301TRPC6c.1856G>T (p.Ser619Ile)
c.1508G>T (p.Ser503Ile)
c.1691G>T (p.Ser564Ile)
c.1622G>T (p.Ser541Ile)
n.2212G>T
11g.101473662C>GCA382440302TRPC6c.1856G>C (p.Ser619Thr)
c.1508G>C (p.Ser503Thr)
c.1691G>C (p.Ser564Thr)
c.1622G>C (p.Ser541Thr)
n.2212G>C
11g.101473662C>TCA382440303TRPC6c.1856G>A (p.Ser619Asn)
c.1508G>A (p.Ser503Asn)
c.1691G>A (p.Ser564Asn)
c.1622G>A (p.Ser541Asn)
n.2212G>A
11g.101473663T>ACA382440304TRPC6c.1855A>T (p.Ser619Cys)
c.1507A>T (p.Ser503Cys)
c.1690A>T (p.Ser564Cys)
c.1621A>T (p.Ser541Cys)
n.2211A>T
11g.101473663T>CCA382440305TRPC6c.1855A>G (p.Ser619Gly)
c.1507A>G (p.Ser503Gly)
c.1690A>G (p.Ser564Gly)
c.1621A>G (p.Ser541Gly)
n.2211A>G
11g.101473663T>GCA382440306TRPC6c.1855A>C (p.Ser619Arg)
c.1507A>C (p.Ser503Arg)
c.1690A>C (p.Ser564Arg)
c.1621A>C (p.Ser541Arg)
n.2211A>C
11g.101473664T>ACA382440307TRPC6c.1854A>T (p.Glu618Asp)
c.1506A>T (p.Glu502Asp)
c.1689A>T (p.Glu563Asp)
c.1620A>T (p.Glu540Asp)
n.2210A>T
11g.101473664T>CCA476546373TRPC6c.1854A>G (p.Glu618=)
c.1506A>G (p.Glu502=)
c.1689A>G (p.Glu563=)
c.1620A>G (p.Glu540=)
n.2210A>G
11g.101473664T>GCA382440308TRPC6c.1854A>C (p.Glu618Asp)
c.1506A>C (p.Glu502Asp)
c.1689A>C (p.Glu563Asp)
c.1620A>C (p.Glu540Asp)
n.2210A>C
11g.101473665T>ACA382440309TRPC6c.1853A>T (p.Glu618Val)
c.1505A>T (p.Glu502Val)
c.1688A>T (p.Glu563Val)
c.1619A>T (p.Glu540Val)
n.2209A>T
11g.101473665T>CCA382440310TRPC6c.1853A>G (p.Glu618Gly)
c.1505A>G (p.Glu502Gly)
c.1688A>G (p.Glu563Gly)
c.1619A>G (p.Glu540Gly)
n.2209A>G
11g.101473665T>GCA382440311TRPC6c.1853A>C (p.Glu618Ala)
c.1505A>C (p.Glu502Ala)
c.1688A>C (p.Glu563Ala)
c.1619A>C (p.Glu540Ala)
n.2209A>C
11g.101473666C>ACA382440314TRPC6c.1852G>T (p.Glu618Ter)
c.1504G>T (p.Glu502Ter)
c.1687G>T (p.Glu563Ter)
c.1618G>T (p.Glu540Ter)
n.2208G>T
11g.101473666C>GCA382440313TRPC6c.1852G>C (p.Glu618Gln)
c.1504G>C (p.Glu502Gln)
c.1687G>C (p.Glu563Gln)
c.1618G>C (p.Glu540Gln)
n.2208G>C
11g.101473666C>TCA382440312TRPC6c.1852G>A (p.Glu618Lys)
c.1504G>A (p.Glu502Lys)
c.1687G>A (p.Glu563Lys)
c.1618G>A (p.Glu540Lys)
n.2208G>A
11g.101473667A>CCA382440315TRPC6c.1851T>G (p.Asn617Lys)
c.1503T>G (p.Asn501Lys)
c.1686T>G (p.Asn562Lys)
c.1617T>G (p.Asn539Lys)
n.2207T>G
11g.101473667A>GCA476546382TRPC6c.1851T>C (p.Asn617=)
c.1503T>C (p.Asn501=)
c.1686T>C (p.Asn562=)
c.1617T>C (p.Asn539=)
n.2207T>C
11g.101473667A>TCA382440316TRPC6c.1851T>A (p.Asn617Lys)
c.1503T>A (p.Asn501Lys)
c.1686T>A (p.Asn562Lys)
c.1617T>A (p.Asn539Lys)
n.2207T>A
11g.101473668T>ACA382440317TRPC6c.1850A>T (p.Asn617Ile)
c.1502A>T (p.Asn501Ile)
c.1685A>T (p.Asn562Ile)
c.1616A>T (p.Asn539Ile)
n.2206A>T
11g.101473668T>CCA382440318TRPC6c.1850A>G (p.Asn617Ser)
c.1502A>G (p.Asn501Ser)
c.1685A>G (p.Asn562Ser)
c.1616A>G (p.Asn539Ser)
n.2206A>G
 dbSNP
11g.101473668T>GCA382440319TRPC6c.1850A>C (p.Asn617Thr)
c.1502A>C (p.Asn501Thr)
c.1685A>C (p.Asn562Thr)
c.1616A>C (p.Asn539Thr)
n.2206A>C
11g.101473668T=CA1995831452TRPC6c.1850A= (p.Asn617=)
c.1502A= (p.Asn501=)
c.1685A= (p.Asn562=)
c.1616A= (p.Asn539=)
n.2206A=
11g.101473669T>ACA382440320TRPC6c.1849A>T (p.Asn617Tyr)
c.1501A>T (p.Asn501Tyr)
c.1684A>T (p.Asn562Tyr)
c.1615A>T (p.Asn539Tyr)
n.2205A>T
11g.101473669T>CCA382440321TRPC6c.1849A>G (p.Asn617Asp)
c.1501A>G (p.Asn501Asp)
c.1684A>G (p.Asn562Asp)
c.1615A>G (p.Asn539Asp)
n.2205A>G
 dbSNP gnomAD v2 gnomAD v4
11g.101473669T>GCA382440322TRPC6c.1849A>C (p.Asn617His)
c.1501A>C (p.Asn501His)
c.1684A>C (p.Asn562His)
c.1615A>C (p.Asn539His)
n.2205A>C
11g.101473669T=CA1995831456TRPC6c.1849A= (p.Asn617=)
c.1501A= (p.Asn501=)
c.1684A= (p.Asn562=)
c.1615A= (p.Asn539=)
n.2205A=
11g.101473670T>ACA476546386TRPC6c.1848A>T (p.Ala616=)
c.1500A>T (p.Ala500=)
c.1683A>T (p.Ala561=)
c.1614A>T (p.Ala538=)
n.2204A>T
11g.101473670T>CCA6244245TRPC6c.1848A>G (p.Ala616=)
c.1500A>G (p.Ala500=)
c.1683A>G (p.Ala561=)
c.1614A>G (p.Ala538=)
n.2204A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.101473670T>GCA476546385TRPC6c.1848A>C (p.Ala616=)
c.1500A>C (p.Ala500=)
c.1683A>C (p.Ala561=)
c.1614A>C (p.Ala538=)
n.2204A>C
11g.101473670T=CA1995831458TRPC6c.1848A= (p.Ala616=)
c.1500A= (p.Ala500=)
c.1683A= (p.Ala561=)
c.1614A= (p.Ala538=)
n.2204A=
11g.101473671G>ACA382440323TRPC6c.1847C>T (p.Ala616Val)
c.1499C>T (p.Ala500Val)
c.1682C>T (p.Ala561Val)
c.1613C>T (p.Ala538Val)
n.2203C>T
 dbSNP gnomAD v4
11g.101473671G>CCA382440324TRPC6c.1847C>G (p.Ala616Gly)
c.1499C>G (p.Ala500Gly)
c.1682C>G (p.Ala561Gly)
c.1613C>G (p.Ala538Gly)
n.2203C>G
 dbSNP gnomAD v4
11g.101473671G=CA1995831460TRPC6c.1847C= (p.Ala616=)
c.1499C= (p.Ala500=)
c.1682C= (p.Ala561=)
c.1613C= (p.Ala538=)
n.2203C=
11g.101473671G>TCA382440325TRPC6c.1847C>A (p.Ala616Glu)
c.1499C>A (p.Ala500Glu)
c.1682C>A (p.Ala561Glu)
c.1613C>A (p.Ala538Glu)
n.2203C>A
11g.101473672C>ACA382440327TRPC6c.1846G>T (p.Ala616Ser)
c.1498G>T (p.Ala500Ser)
c.1681G>T (p.Ala561Ser)
c.1612G>T (p.Ala538Ser)
n.2202G>T
11g.101473672C>GCA382440328TRPC6c.1846G>C (p.Ala616Pro)
c.1498G>C (p.Ala500Pro)
c.1681G>C (p.Ala561Pro)
c.1612G>C (p.Ala538Pro)
n.2202G>C
11g.101473672C>TCA382440326TRPC6c.1846G>A (p.Ala616Thr)
c.1498G>A (p.Ala500Thr)
c.1681G>A (p.Ala561Thr)
c.1612G>A (p.Ala538Thr)
n.2202G>A
 gnomAD v4
11g.101473673T>ACA476546394TRPC6c.1845A>T (p.Pro615=)
c.1497A>T (p.Pro499=)
c.1680A>T (p.Pro560=)
c.1611A>T (p.Pro537=)
n.2201A>T
11g.101473673T>CCA476546395TRPC6c.1845A>G (p.Pro615=)
c.1497A>G (p.Pro499=)
c.1680A>G (p.Pro560=)
c.1611A>G (p.Pro537=)
n.2201A>G
11g.101473673T>GCA476546396TRPC6c.1845A>C (p.Pro615=)
c.1497A>C (p.Pro499=)
c.1680A>C (p.Pro560=)
c.1611A>C (p.Pro537=)
n.2201A>C
11g.101473673_101473674delinsTGCA1995831461TRPC6c.1844_1845delinsCA (p.Pro615=)
c.1496_1497delinsCA (p.Pro499=)
c.1679_1680delinsCA (p.Pro560=)
c.1610_1611delinsCA (p.Pro537=)
n.2200_2201delinsCA
11g.101473674G>ACA6244246TRPC6c.1844C>T (p.Pro615Leu)
c.1496C>T (p.Pro499Leu)
c.1679C>T (p.Pro560Leu)
c.1610C>T (p.Pro537Leu)
n.2200C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.101473674G>CCA382440329TRPC6c.1844C>G (p.Pro615Arg)
c.1496C>G (p.Pro499Arg)
c.1679C>G (p.Pro560Arg)
c.1610C>G (p.Pro537Arg)
n.2200C>G
11g.101473674G=CA1995831463TRPC6c.1844C= (p.Pro615=)
c.1496C= (p.Pro499=)
c.1679C= (p.Pro560=)
c.1610C= (p.Pro537=)
n.2200C=
11g.101473674G>TCA382440330TRPC6c.1844C>A (p.Pro615Gln)
c.1496C>A (p.Pro499Gln)
c.1679C>A (p.Pro560Gln)
c.1610C>A (p.Pro537Gln)
n.2200C>A
11g.101473675delCA941538062TRPC6c.1844del (p.Pro615GlnfsTer?)
c.1496del (p.Pro499GlnfsTer?)
c.1679del (p.Pro560GlnfsTer?)
c.1610del (p.Pro537GlnfsTer?)
n.2200del
 dbSNP gnomAD v3 gnomAD v4
11g.101473674_101473675insTACA2793388083TRPC6c.1843_1844insTA (p.Pro615LeufsTer?)
c.1495_1496insTA (p.Pro499LeufsTer?)
c.1678_1679insTA (p.Pro560LeufsTer?)
c.1609_1610insTA (p.Pro537LeufsTer?)
n.2199_2200insTA
11g.101473675G>ACA382440331TRPC6c.1843C>T (p.Pro615Ser)
c.1495C>T (p.Pro499Ser)
c.1678C>T (p.Pro560Ser)
c.1609C>T (p.Pro537Ser)
n.2199C>T
11g.101473675G>CCA382440332TRPC6c.1843C>G (p.Pro615Ala)
c.1495C>G (p.Pro499Ala)
c.1678C>G (p.Pro560Ala)
c.1609C>G (p.Pro537Ala)
n.2199C>G
11g.101473675G>TCA382440333TRPC6c.1843C>A (p.Pro615Thr)
c.1495C>A (p.Pro499Thr)
c.1678C>A (p.Pro560Thr)
c.1609C>A (p.Pro537Thr)
n.2199C>A
11g.101473676T>ACA382440335TRPC6c.1842A>T (p.Leu614Phe)
c.1494A>T (p.Leu498Phe)
c.1677A>T (p.Leu559Phe)
c.1608A>T (p.Leu536Phe)
n.2198A>T
11g.101473676T>CCA476546404TRPC6c.1842A>G (p.Leu614=)
c.1494A>G (p.Leu498=)
c.1677A>G (p.Leu559=)
c.1608A>G (p.Leu536=)
n.2198A>G
11g.101473676T>GCA382440334TRPC6c.1842A>C (p.Leu614Phe)
c.1494A>C (p.Leu498Phe)
c.1677A>C (p.Leu559Phe)
c.1608A>C (p.Leu536Phe)
n.2198A>C
11g.101473677A=CA1995831465TRPC6c.1841T= (p.Leu614=)
c.1493T= (p.Leu498=)
c.1676T= (p.Leu559=)
c.1607T= (p.Leu536=)
n.2197T=
11g.101473677A>CCA382440336TRPC6c.1841T>G (p.Leu614Ter)
c.1493T>G (p.Leu498Ter)
c.1676T>G (p.Leu559Ter)
c.1607T>G (p.Leu536Ter)
n.2197T>G
11g.101473677A>GCA382440337TRPC6c.1841T>C (p.Leu614Ser)
c.1493T>C (p.Leu498Ser)
c.1676T>C (p.Leu559Ser)
c.1607T>C (p.Leu536Ser)
n.2197T>C
 gnomAD v4 COSMIC
11g.101473677A>TCA382440338TRPC6c.1841T>A (p.Leu614Ter)
c.1493T>A (p.Leu498Ter)
c.1676T>A (p.Leu559Ter)
c.1607T>A (p.Leu536Ter)
n.2197T>A
 dbSNP gnomAD v3 gnomAD v4
11g.101473678A>CCA382440339TRPC6c.1840T>G (p.Leu614Val)
c.1492T>G (p.Leu498Val)
c.1675T>G (p.Leu559Val)
c.1606T>G (p.Leu536Val)
n.2196T>G
11g.101473678A>GCA476546406TRPC6c.1840T>C (p.Leu614=)
c.1492T>C (p.Leu498=)
c.1675T>C (p.Leu559=)
c.1606T>C (p.Leu536=)
n.2196T>C
11g.101473678A>TCA382440340TRPC6c.1840T>A (p.Leu614Ile)
c.1492T>A (p.Leu498Ile)
c.1675T>A (p.Leu559Ile)
c.1606T>A (p.Leu536Ile)
n.2196T>A
11g.101473679A>CCA382440341TRPC6c.1839T>G (p.Ile613Met)
c.1491T>G (p.Ile497Met)
c.1674T>G (p.Ile558Met)
c.1605T>G (p.Ile535Met)
n.2195T>G
11g.101473679A>GCA476546407TRPC6c.1839T>C (p.Ile613=)
c.1491T>C (p.Ile497=)
c.1674T>C (p.Ile558=)
c.1605T>C (p.Ile535=)
n.2195T>C
11g.101473679A>TCA476546408TRPC6c.1839T>A (p.Ile613=)
c.1491T>A (p.Ile497=)
c.1674T>A (p.Ile558=)
c.1605T>A (p.Ile535=)
n.2195T>A
11g.101473680A>CCA382440342TRPC6c.1838T>G (p.Ile613Ser)
c.1490T>G (p.Ile497Ser)
c.1673T>G (p.Ile558Ser)
c.1604T>G (p.Ile535Ser)
n.2194T>G
11g.101473680A>GCA382440344TRPC6c.1838T>C (p.Ile613Thr)
c.1490T>C (p.Ile497Thr)
c.1673T>C (p.Ile558Thr)
c.1604T>C (p.Ile535Thr)
n.2194T>C
11g.101473680A>TCA382440343TRPC6c.1838T>A (p.Ile613Asn)
c.1490T>A (p.Ile497Asn)
c.1673T>A (p.Ile558Asn)
c.1604T>A (p.Ile535Asn)
n.2194T>A
11g.101473681T>ACA382440345TRPC6c.1837A>T (p.Ile613Phe)
c.1489A>T (p.Ile497Phe)
c.1672A>T (p.Ile558Phe)
c.1603A>T (p.Ile535Phe)
n.2193A>T
11g.101473681T>CCA6244247TRPC6c.1837A>G (p.Ile613Val)
c.1489A>G (p.Ile497Val)
c.1672A>G (p.Ile558Val)
c.1603A>G (p.Ile535Val)
n.2193A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.101473681T>GCA382440346TRPC6c.1837A>C (p.Ile613Leu)
c.1489A>C (p.Ile497Leu)
c.1672A>C (p.Ile558Leu)
c.1603A>C (p.Ile535Leu)
n.2193A>C
11g.101473681T=CA1995831468TRPC6c.1837A= (p.Ile613=)
c.1489A= (p.Ile497=)
c.1672A= (p.Ile558=)
c.1603A= (p.Ile535=)
n.2193A=
11g.101473682A>CCA382440347TRPC6c.1836T>G (p.Tyr612Ter)
c.1488T>G (p.Tyr496Ter)
c.1671T>G (p.Tyr557Ter)
c.1602T>G (p.Tyr534Ter)
n.2192T>G
11g.101473682A>GCA476546415TRPC6c.1836T>C (p.Tyr612=)
c.1488T>C (p.Tyr496=)
c.1671T>C (p.Tyr557=)
c.1602T>C (p.Tyr534=)
n.2192T>C
 gnomAD v4
11g.101473682A>TCA382440348TRPC6c.1836T>A (p.Tyr612Ter)
c.1488T>A (p.Tyr496Ter)
c.1671T>A (p.Tyr557Ter)
c.1602T>A (p.Tyr534Ter)
n.2192T>A
11g.101473683T>ACA382440349TRPC6c.1835A>T (p.Tyr612Phe)
c.1487A>T (p.Tyr496Phe)
c.1670A>T (p.Tyr557Phe)
c.1601A>T (p.Tyr534Phe)
n.2191A>T
11g.101473683T>CCA382440350TRPC6c.1835A>G (p.Tyr612Cys)
c.1487A>G (p.Tyr496Cys)
c.1670A>G (p.Tyr557Cys)
c.1601A>G (p.Tyr534Cys)
n.2191A>G
11g.101473683T>GCA382440351TRPC6c.1835A>C (p.Tyr612Ser)
c.1487A>C (p.Tyr496Ser)
c.1670A>C (p.Tyr557Ser)
c.1601A>C (p.Tyr534Ser)
n.2191A>C
11g.101473684A>CCA382440352TRPC6c.1834T>G (p.Tyr612Asp)
c.1486T>G (p.Tyr496Asp)
c.1669T>G (p.Tyr557Asp)
c.1600T>G (p.Tyr534Asp)
n.2190T>G
11g.101473684A>GCA382440353TRPC6c.1834T>C (p.Tyr612His)
c.1486T>C (p.Tyr496His)
c.1669T>C (p.Tyr557His)
c.1600T>C (p.Tyr534His)
n.2190T>C
11g.101473684A>TCA382440354TRPC6c.1834T>A (p.Tyr612Asn)
c.1486T>A (p.Tyr496Asn)
c.1669T>A (p.Tyr557Asn)
c.1600T>A (p.Tyr534Asn)
n.2190T>A
11g.101473685A=CA1995831470TRPC6c.1833T= (p.Ala611=)
c.1485T= (p.Ala495=)
c.1668T= (p.Ala556=)
c.1599T= (p.Ala533=)
n.2189T=
11g.101473685A>CCA476546420TRPC6c.1833T>G (p.Ala611=)
c.1485T>G (p.Ala495=)
c.1668T>G (p.Ala556=)
c.1599T>G (p.Ala533=)
n.2189T>G
11g.101473685A>GCA476546421TRPC6c.1833T>C (p.Ala611=)
c.1485T>C (p.Ala495=)
c.1668T>C (p.Ala556=)
c.1599T>C (p.Ala533=)
n.2189T>C
 dbSNP gnomAD v4
11g.101473685A>TCA476546423TRPC6c.1833T>A (p.Ala611=)
c.1485T>A (p.Ala495=)
c.1668T>A (p.Ala556=)
c.1599T>A (p.Ala533=)
n.2189T>A
11g.101473686G>ACA382440355TRPC6c.1832C>T (p.Ala611Val)
c.1484C>T (p.Ala495Val)
c.1667C>T (p.Ala556Val)
c.1598C>T (p.Ala533Val)
n.2188C>T
11g.101473686G>CCA382440357TRPC6c.1832C>G (p.Ala611Gly)
c.1484C>G (p.Ala495Gly)
c.1667C>G (p.Ala556Gly)
c.1598C>G (p.Ala533Gly)
n.2188C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.101473686G=CA1995831475TRPC6c.1832C= (p.Ala611=)
c.1484C= (p.Ala495=)
c.1667C= (p.Ala556=)
c.1598C= (p.Ala533=)
n.2188C=
11g.101473686G>TCA382440356TRPC6c.1832C>A (p.Ala611Asp)
c.1484C>A (p.Ala495Asp)
c.1667C>A (p.Ala556Asp)
c.1598C>A (p.Ala533Asp)
n.2188C>A
11g.101473687delCA2793388084TRPC6c.1831del (p.Ala611LeufsTer?)
c.1483del (p.Ala495LeufsTer?)
c.1666del (p.Ala556LeufsTer?)
c.1597del (p.Ala533LeufsTer?)
n.2187del
11g.101473687C>ACA382440358TRPC6c.1831G>T (p.Ala611Ser)
c.1483G>T (p.Ala495Ser)
c.1666G>T (p.Ala556Ser)
c.1597G>T (p.Ala533Ser)
n.2187G>T
11g.101473687C>GCA382440360TRPC6c.1831G>C (p.Ala611Pro)
c.1483G>C (p.Ala495Pro)
c.1666G>C (p.Ala556Pro)
c.1597G>C (p.Ala533Pro)
n.2187G>C
 gnomAD v4
11g.101473687C>TCA382440359TRPC6c.1831G>A (p.Ala611Thr)
c.1483G>A (p.Ala495Thr)
c.1666G>A (p.Ala556Thr)
c.1597G>A (p.Ala533Thr)
n.2187G>A
11g.101473688T>ACA476546429TRPC6c.1830A>T (p.Ile610=)
c.1482A>T (p.Ile494=)
c.1665A>T (p.Ile555=)
c.1596A>T (p.Ile532=)
n.2186A>T
11g.101473688T>CCA382440361TRPC6c.1830A>G (p.Ile610Met)
c.1482A>G (p.Ile494Met)
c.1665A>G (p.Ile555Met)
c.1596A>G (p.Ile532Met)
n.2186A>G
11g.101473688T>GCA476546430TRPC6c.1830A>C (p.Ile610=)
c.1482A>C (p.Ile494=)
c.1665A>C (p.Ile555=)
c.1596A>C (p.Ile532=)
n.2186A>C
11g.101473689A=CA1995831478TRPC6c.1829T= (p.Ile610=)
c.1481T= (p.Ile494=)
c.1664T= (p.Ile555=)
c.1595T= (p.Ile532=)
n.2185T=
11g.101473689A>CCA382440363TRPC6c.1829T>G (p.Ile610Arg)
c.1481T>G (p.Ile494Arg)
c.1664T>G (p.Ile555Arg)
c.1595T>G (p.Ile532Arg)
n.2185T>G
11g.101473689A>GCA382440362TRPC6c.1829T>C (p.Ile610Thr)
c.1481T>C (p.Ile494Thr)
c.1664T>C (p.Ile555Thr)
c.1595T>C (p.Ile532Thr)
n.2185T>C
 dbSNP gnomAD v3 gnomAD v4
11g.101473689A>TCA382440364TRPC6c.1829T>A (p.Ile610Lys)
c.1481T>A (p.Ile494Lys)
c.1664T>A (p.Ile555Lys)
c.1595T>A (p.Ile532Lys)
n.2185T>A
11g.101473690T>ACA382440365TRPC6c.1828A>T (p.Ile610Leu)
c.1480A>T (p.Ile494Leu)
c.1663A>T (p.Ile555Leu)
c.1594A>T (p.Ile532Leu)
n.2184A>T
11g.101473690T>CCA382440366TRPC6c.1828A>G (p.Ile610Val)
c.1480A>G (p.Ile494Val)
c.1663A>G (p.Ile555Val)
c.1594A>G (p.Ile532Val)
n.2184A>G
 dbSNP gnomAD v4
11g.101473690T>GCA382440367TRPC6c.1828A>C (p.Ile610Leu)
c.1480A>C (p.Ile494Leu)
c.1663A>C (p.Ile555Leu)
c.1594A>C (p.Ile532Leu)
n.2184A>C
11g.101473690T=CA1995831481TRPC6c.1828A= (p.Ile610=)
c.1480A= (p.Ile494=)
c.1663A= (p.Ile555=)
c.1594A= (p.Ile532=)
n.2184A=
11g.101473691C>ACA382440368TRPC6c.1827G>T (p.Arg609Ser)
c.1479G>T (p.Arg493Ser)
c.1662G>T (p.Arg554Ser)
c.1593G>T (p.Arg531Ser)
n.2183G>T
11g.101473691C=CA1995831482TRPC6c.1827G= (p.Arg609=)
c.1479G= (p.Arg493=)
c.1662G= (p.Arg554=)
c.1593G= (p.Arg531=)
n.2183G=
11g.101473691C>GCA382440369TRPC6c.1827G>C (p.Arg609Ser)
c.1479G>C (p.Arg493Ser)
c.1662G>C (p.Arg554Ser)
c.1593G>C (p.Arg531Ser)
n.2183G>C
11g.101473691C>TCA476546432TRPC6c.1827G>A (p.Arg609=)
c.1479G>A (p.Arg493=)
c.1662G>A (p.Arg554=)
c.1593G>A (p.Arg531=)
n.2183G>A
 dbSNP gnomAD v4 COSMIC
11g.101473691_101473692insTCA2793388085TRPC6c.1826_1827insA (p.Ile610AspfsTer9)
c.1478_1479insA (p.Ile494AspfsTer9)
c.1661_1662insA (p.Ile555AspfsTer9)
c.1592_1593insA (p.Ile532AspfsTer9)
n.2182_2183insA
11g.101473692C>ACA382440370TRPC6c.1826G>T (p.Arg609Met)
c.1478G>T (p.Arg493Met)
c.1661G>T (p.Arg554Met)
c.1592G>T (p.Arg531Met)
n.2182G>T
11g.101473692C>GCA382440371TRPC6c.1826G>C (p.Arg609Thr)
c.1478G>C (p.Arg493Thr)
c.1661G>C (p.Arg554Thr)
c.1592G>C (p.Arg531Thr)
n.2182G>C
 gnomAD v4
11g.101473692C>TCA382440372TRPC6c.1826G>A (p.Arg609Lys)
c.1478G>A (p.Arg493Lys)
c.1661G>A (p.Arg554Lys)
c.1592G>A (p.Arg531Lys)
n.2182G>A
11g.101473693T>ACA382440373TRPC6c.1825A>T (p.Arg609Trp)
c.1477A>T (p.Arg493Trp)
c.1660A>T (p.Arg554Trp)
c.1591A>T (p.Arg531Trp)
n.2181A>T
11g.101473693T>CCA382440374TRPC6c.1825A>G (p.Arg609Gly)
c.1477A>G (p.Arg493Gly)
c.1660A>G (p.Arg554Gly)
c.1591A>G (p.Arg531Gly)
n.2181A>G
11g.101473693T>GCA476546437TRPC6c.1825A>C (p.Arg609=)
c.1477A>C (p.Arg493=)
c.1660A>C (p.Arg554=)
c.1591A>C (p.Arg531=)
n.2181A>C
11g.101473694A>CCA476546438TRPC6c.1824T>G (p.Ser608=)
c.1476T>G (p.Ser492=)
c.1659T>G (p.Ser553=)
c.1590T>G (p.Ser530=)
n.2180T>G
11g.101473694A>GCA476546439TRPC6c.1824T>C (p.Ser608=)
c.1476T>C (p.Ser492=)
c.1659T>C (p.Ser553=)
c.1590T>C (p.Ser530=)
n.2180T>C
11g.101473694A>TCA476546440TRPC6c.1824T>A (p.Ser608=)
c.1476T>A (p.Ser492=)
c.1659T>A (p.Ser553=)
c.1590T>A (p.Ser530=)
n.2180T>A
11g.101473695G>ACA382440377TRPC6c.1823C>T (p.Ser608Phe)
c.1475C>T (p.Ser492Phe)
c.1658C>T (p.Ser553Phe)
c.1589C>T (p.Ser530Phe)
n.2179C>T
 COSMIC
11g.101473695G>CCA382440376TRPC6c.1823C>G (p.Ser608Cys)
c.1475C>G (p.Ser492Cys)
c.1658C>G (p.Ser553Cys)
c.1589C>G (p.Ser530Cys)
n.2179C>G
11g.101473695G>TCA382440375TRPC6c.1823C>A (p.Ser608Tyr)
c.1475C>A (p.Ser492Tyr)
c.1658C>A (p.Ser553Tyr)
c.1589C>A (p.Ser530Tyr)
n.2179C>A
 COSMIC
11g.101473696delCA2793388086TRPC6c.1822del (p.Ser608LeufsTer3)
c.1474del (p.Ser492LeufsTer3)
c.1657del (p.Ser553LeufsTer3)
c.1588del (p.Ser530LeufsTer3)
n.2178del
11g.101473696A>CCA382440378TRPC6c.1822T>G (p.Ser608Ala)
c.1474T>G (p.Ser492Ala)
c.1657T>G (p.Ser553Ala)
c.1588T>G (p.Ser530Ala)
n.2178T>G
11g.101473696A>GCA382440379TRPC6c.1822T>C (p.Ser608Pro)
c.1474T>C (p.Ser492Pro)
c.1657T>C (p.Ser553Pro)
c.1588T>C (p.Ser530Pro)
n.2178T>C
11g.101473696A>TCA382440380TRPC6c.1822T>A (p.Ser608Thr)
c.1474T>A (p.Ser492Thr)
c.1657T>A (p.Ser553Thr)
c.1588T>A (p.Ser530Thr)
n.2178T>A
11g.101473697G>ACA476546446TRPC6c.1821C>T (p.Phe607=)
c.1473C>T (p.Phe491=)
c.1656C>T (p.Phe552=)
c.1587C>T (p.Phe529=)
n.2177C>T
11g.101473697G>CCA382440381TRPC6c.1821C>G (p.Phe607Leu)
c.1473C>G (p.Phe491Leu)
c.1656C>G (p.Phe552Leu)
c.1587C>G (p.Phe529Leu)
n.2177C>G
11g.101473697G>TCA382440382TRPC6c.1821C>A (p.Phe607Leu)
c.1473C>A (p.Phe491Leu)
c.1656C>A (p.Phe552Leu)
c.1587C>A (p.Phe529Leu)
n.2177C>A
11g.101473698A=CA1995831484TRPC6c.1820T= (p.Phe607=)
c.1472T= (p.Phe491=)
c.1655T= (p.Phe552=)
c.1586T= (p.Phe529=)
n.2176T=
11g.101473698A>CCA382440383TRPC6c.1820T>G (p.Phe607Cys)
c.1472T>G (p.Phe491Cys)
c.1655T>G (p.Phe552Cys)
c.1586T>G (p.Phe529Cys)
n.2176T>G
 dbSNP
11g.101473698A>GCA382440384TRPC6c.1820T>C (p.Phe607Ser)
c.1472T>C (p.Phe491Ser)
c.1655T>C (p.Phe552Ser)
c.1586T>C (p.Phe529Ser)
n.2176T>C
11g.101473698A>TCA382440385TRPC6c.1820T>A (p.Phe607Tyr)
c.1472T>A (p.Phe491Tyr)
c.1655T>A (p.Phe552Tyr)
c.1586T>A (p.Phe529Tyr)
n.2176T>A
11g.101473699A>CCA382440386TRPC6c.1819T>G (p.Phe607Val)
c.1471T>G (p.Phe491Val)
c.1654T>G (p.Phe552Val)
c.1585T>G (p.Phe529Val)
n.2175T>G
11g.101473699A>GCA382440387TRPC6c.1819T>C (p.Phe607Leu)
c.1471T>C (p.Phe491Leu)
c.1654T>C (p.Phe552Leu)
c.1585T>C (p.Phe529Leu)
n.2175T>C
11g.101473699A>TCA382440388TRPC6c.1819T>A (p.Phe607Ile)
c.1471T>A (p.Phe491Ile)
c.1654T>A (p.Phe552Ile)
c.1585T>A (p.Phe529Ile)
n.2175T>A
11g.101473700A=CA1995831487TRPC6c.1818T= (p.Ser606=)
c.1470T= (p.Ser490=)
c.1653T= (p.Ser551=)
c.1584T= (p.Ser528=)
n.2174T=
11g.101473700A>CCA382440390TRPC6c.1818T>G (p.Ser606Arg)
c.1470T>G (p.Ser490Arg)
c.1653T>G (p.Ser551Arg)
c.1584T>G (p.Ser528Arg)
n.2174T>G
11g.101473700A>GCA6244248TRPC6c.1818T>C (p.Ser606=)
c.1470T>C (p.Ser490=)
c.1653T>C (p.Ser551=)
c.1584T>C (p.Ser528=)
n.2174T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.101473700A>TCA382440389TRPC6c.1818T>A (p.Ser606Arg)
c.1470T>A (p.Ser490Arg)
c.1653T>A (p.Ser551Arg)
c.1584T>A (p.Ser528Arg)
n.2174T>A
11g.101473701C>ACA382440391TRPC6c.1817G>T (p.Ser606Ile)
c.1469G>T (p.Ser490Ile)
c.1652G>T (p.Ser551Ile)
c.1583G>T (p.Ser528Ile)
n.2173G>T
 COSMIC
11g.101473701C>GCA382440392TRPC6c.1817G>C (p.Ser606Thr)
c.1469G>C (p.Ser490Thr)
c.1652G>C (p.Ser551Thr)
c.1583G>C (p.Ser528Thr)
n.2173G>C
11g.101473701C>TCA382440393TRPC6c.1817G>A (p.Ser606Asn)
c.1469G>A (p.Ser490Asn)
c.1652G>A (p.Ser551Asn)
c.1583G>A (p.Ser528Asn)
n.2173G>A
 gnomAD v4
11g.101473702T>ACA382440394TRPC6c.1816A>T (p.Ser606Cys)
c.1468A>T (p.Ser490Cys)
c.1651A>T (p.Ser551Cys)
c.1582A>T (p.Ser528Cys)
n.2172A>T
11g.101473702T>CCA382440395TRPC6c.1816A>G (p.Ser606Gly)
c.1468A>G (p.Ser490Gly)
c.1651A>G (p.Ser551Gly)
c.1582A>G (p.Ser528Gly)
n.2172A>G
11g.101473702T>GCA382440396TRPC6c.1816A>C (p.Ser606Arg)
c.1468A>C (p.Ser490Arg)
c.1651A>C (p.Ser551Arg)
c.1582A>C (p.Ser528Arg)
n.2172A>C
 COSMIC
11g.101473703T>ACA382440397TRPC6c.1815A>T (p.Leu605Phe)
c.1467A>T (p.Leu489Phe)
c.1650A>T (p.Leu550Phe)
c.1581A>T (p.Leu527Phe)
n.2171A>T
11g.101473703T>CCA476546468TRPC6c.1815A>G (p.Leu605=)
c.1467A>G (p.Leu489=)
c.1650A>G (p.Leu550=)
c.1581A>G (p.Leu527=)
n.2171A>G
 gnomAD v4
11g.101473703T>GCA382440398TRPC6c.1815A>C (p.Leu605Phe)
c.1467A>C (p.Leu489Phe)
c.1650A>C (p.Leu550Phe)
c.1581A>C (p.Leu527Phe)
n.2171A>C
11g.101473704A>CCA382440399TRPC6c.1814T>G (p.Leu605Ter)
c.1466T>G (p.Leu489Ter)
c.1649T>G (p.Leu550Ter)
c.1580T>G (p.Leu527Ter)
n.2170T>G
11g.101473704A>GCA382440400TRPC6c.1814T>C (p.Leu605Ser)
c.1466T>C (p.Leu489Ser)
c.1649T>C (p.Leu550Ser)
c.1580T>C (p.Leu527Ser)
n.2170T>C
11g.101473704A>TCA382440401TRPC6c.1814T>A (p.Leu605Ter)
c.1466T>A (p.Leu489Ter)
c.1649T>A (p.Leu550Ter)
c.1580T>A (p.Leu527Ter)
n.2170T>A
11g.101473705A>CCA382440402TRPC6c.1813T>G (p.Leu605Val)
c.1465T>G (p.Leu489Val)
c.1648T>G (p.Leu550Val)
c.1579T>G (p.Leu527Val)
n.2169T>G
 gnomAD v4
11g.101473705A>GCA476546470TRPC6c.1813T>C (p.Leu605=)
c.1465T>C (p.Leu489=)
c.1648T>C (p.Leu550=)
c.1579T>C (p.Leu527=)
n.2169T>C
11g.101473705A>TCA382440403TRPC6c.1813T>A (p.Leu605Ile)
c.1465T>A (p.Leu489Ile)
c.1648T>A (p.Leu550Ile)
c.1579T>A (p.Leu527Ile)
n.2169T>A
11g.101473706A>CCA476546474TRPC6c.1812T>G (p.Val604=)
c.1464T>G (p.Val488=)
c.1647T>G (p.Val549=)
c.1578T>G (p.Val526=)
n.2168T>G
11g.101473706A>GCA476546475TRPC6c.1812T>C (p.Val604=)
c.1464T>C (p.Val488=)
c.1647T>C (p.Val549=)
c.1578T>C (p.Val526=)
n.2168T>C
11g.101473706A>TCA476546477TRPC6c.1812T>A (p.Val604=)
c.1464T>A (p.Val488=)
c.1647T>A (p.Val549=)
c.1578T>A (p.Val526=)
n.2168T>A
11g.101473706_101473707insTTTTCA2793388087TRPC6c.1811_1812insAAAA (p.Leu605LysfsTer6)
c.1463_1464insAAAA (p.Leu489LysfsTer6)
c.1646_1647insAAAA (p.Leu550LysfsTer6)
c.1577_1578insAAAA (p.Leu527LysfsTer6)
n.2167_2168insAAAA
11g.101473707A>CCA382440404TRPC6c.1811T>G (p.Val604Gly)
c.1463T>G (p.Val488Gly)
c.1646T>G (p.Val549Gly)
c.1577T>G (p.Val526Gly)
n.2167T>G
11g.101473707A>GCA382440406TRPC6c.1811T>C (p.Val604Ala)
c.1463T>C (p.Val488Ala)
c.1646T>C (p.Val549Ala)
c.1577T>C (p.Val526Ala)
n.2167T>C
11g.101473707A>TCA382440405TRPC6c.1811T>A (p.Val604Asp)
c.1463T>A (p.Val488Asp)
c.1646T>A (p.Val549Asp)
c.1577T>A (p.Val526Asp)
n.2167T>A
11g.101473708C>ACA382440407TRPC6c.1810G>T (p.Val604Phe)
c.1462G>T (p.Val488Phe)
c.1645G>T (p.Val549Phe)
c.1576G>T (p.Val526Phe)
n.2166G>T
11g.101473708C=CA1995831493TRPC6c.1810G= (p.Val604=)
c.1462G= (p.Val488=)
c.1645G= (p.Val549=)
c.1576G= (p.Val526=)
n.2166G=
11g.101473708C>GCA382440408TRPC6c.1810G>C (p.Val604Leu)
c.1462G>C (p.Val488Leu)
c.1645G>C (p.Val549Leu)
c.1576G>C (p.Val526Leu)
n.2166G>C
11g.101473708C>TCA382440409TRPC6c.1810G>A (p.Val604Ile)
c.1462G>A (p.Val488Ile)
c.1645G>A (p.Val549Ile)
c.1576G>A (p.Val526Ile)
n.2166G>A
 dbSNP
11g.101473709T>ACA476546486TRPC6c.1809A>T (p.Val603=)
c.1461A>T (p.Val487=)
c.1644A>T (p.Val548=)
c.1575A>T (p.Val525=)
n.2165A>T
11g.101473709T>CCA476546488TRPC6c.1809A>G (p.Val603=)
c.1461A>G (p.Val487=)
c.1644A>G (p.Val548=)
c.1575A>G (p.Val525=)
n.2165A>G
11g.101473709T>GCA476546492TRPC6c.1809A>C (p.Val603=)
c.1461A>C (p.Val487=)
c.1644A>C (p.Val548=)
c.1575A>C (p.Val525=)
n.2165A>C
11g.101473709_101473710delCA2793388088TRPC6c.1808_1809del (p.Val603GlyfsTer6)
c.1460_1461del (p.Val487GlyfsTer6)
c.1643_1644del (p.Val548GlyfsTer6)
c.1574_1575del (p.Val525GlyfsTer6)
n.2164_2165del
11g.101473710A>CCA382440410TRPC6c.1808T>G (p.Val603Gly)
c.1460T>G (p.Val487Gly)
c.1643T>G (p.Val548Gly)
c.1574T>G (p.Val525Gly)
n.2164T>G
11g.101473710A>GCA382440411TRPC6c.1808T>C (p.Val603Ala)
c.1460T>C (p.Val487Ala)
c.1643T>C (p.Val548Ala)
c.1574T>C (p.Val525Ala)
n.2164T>C
11g.101473710A>TCA382440412TRPC6c.1808T>A (p.Val603Glu)
c.1460T>A (p.Val487Glu)
c.1643T>A (p.Val548Glu)
c.1574T>A (p.Val525Glu)
n.2164T>A
11g.101473711C>ACA382440413TRPC6c.1807G>T (p.Val603Leu)
c.1459G>T (p.Val487Leu)
c.1642G>T (p.Val548Leu)
c.1573G>T (p.Val525Leu)
n.2163G>T
 dbSNP gnomAD v2 gnomAD v4
11g.101473711C=CA1995831495TRPC6c.1807G= (p.Val603=)
c.1459G= (p.Val487=)
c.1642G= (p.Val548=)
c.1573G= (p.Val525=)
n.2163G=
11g.101473711C>GCA382440414TRPC6c.1807G>C (p.Val603Leu)
c.1459G>C (p.Val487Leu)
c.1642G>C (p.Val548Leu)
c.1573G>C (p.Val525Leu)
n.2163G>C
 gnomAD v4
11g.101473711C>TCA382440415TRPC6c.1807G>A (p.Val603Ile)
c.1459G>A (p.Val487Ile)
c.1642G>A (p.Val548Ile)
c.1573G>A (p.Val525Ile)
n.2163G>A
 gnomAD v4
11g.101473712A>CCA476546504TRPC6c.1806T>G (p.Ala602=)
c.1458T>G (p.Ala486=)
c.1641T>G (p.Ala547=)
c.1572T>G (p.Ala524=)
n.2162T>G
11g.101473712A>GCA476546500TRPC6c.1806T>C (p.Ala602=)
c.1458T>C (p.Ala486=)
c.1641T>C (p.Ala547=)
c.1572T>C (p.Ala524=)
n.2162T>C
11g.101473712A>TCA476546502TRPC6c.1806T>A (p.Ala602=)
c.1458T>A (p.Ala486=)
c.1641T>A (p.Ala547=)
c.1572T>A (p.Ala524=)
n.2162T>A
11g.101473713G>ACA382440416TRPC6c.1805C>T (p.Ala602Val)
c.1457C>T (p.Ala486Val)
c.1640C>T (p.Ala547Val)
c.1571C>T (p.Ala524Val)
n.2161C>T
 gnomAD v4 COSMIC
11g.101473713G>CCA382440417TRPC6c.1805C>G (p.Ala602Gly)
c.1457C>G (p.Ala486Gly)
c.1640C>G (p.Ala547Gly)
c.1571C>G (p.Ala524Gly)
n.2161C>G
11g.101473713G>TCA382440418TRPC6c.1805C>A (p.Ala602Asp)
c.1457C>A (p.Ala486Asp)
c.1640C>A (p.Ala547Asp)
c.1571C>A (p.Ala524Asp)
n.2161C>A
11g.101473714C>ACA382440420TRPC6c.1804G>T (p.Ala602Ser)
c.1456G>T (p.Ala486Ser)
c.1639G>T (p.Ala547Ser)
c.1570G>T (p.Ala524Ser)
n.2160G>T
11g.101473714C>GCA382440421TRPC6c.1804G>C (p.Ala602Pro)
c.1456G>C (p.Ala486Pro)
c.1639G>C (p.Ala547Pro)
c.1570G>C (p.Ala524Pro)
n.2160G>C
11g.101473714C>TCA382440419TRPC6c.1804G>A (p.Ala602Thr)
c.1456G>A (p.Ala486Thr)
c.1639G>A (p.Ala547Thr)
c.1570G>A (p.Ala524Thr)
n.2160G>A
 gnomAD v4
11g.101473715A=CA1995831497TRPC6c.1803T= (p.Ile601=)
c.1455T= (p.Ile485=)
c.1638T= (p.Ile546=)
c.1569T= (p.Ile523=)
n.2159T=
11g.101473715A>CCA382440422TRPC6c.1803T>G (p.Ile601Met)
c.1455T>G (p.Ile485Met)
c.1638T>G (p.Ile546Met)
c.1569T>G (p.Ile523Met)
n.2159T>G
11g.101473715A>GCA476546509TRPC6c.1803T>C (p.Ile601=)
c.1455T>C (p.Ile485=)
c.1638T>C (p.Ile546=)
c.1569T>C (p.Ile523=)
n.2159T>C
 dbSNP
11g.101473715A>TCA476546511TRPC6c.1803T>A (p.Ile601=)
c.1455T>A (p.Ile485=)
c.1638T>A (p.Ile546=)
c.1569T>A (p.Ile523=)
n.2159T>A
11g.101473716A>CCA382440423TRPC6c.1802T>G (p.Ile601Ser)
c.1454T>G (p.Ile485Ser)
c.1637T>G (p.Ile546Ser)
c.1568T>G (p.Ile523Ser)
n.2158T>G
11g.101473716A>GCA382440424TRPC6c.1802T>C (p.Ile601Thr)
c.1454T>C (p.Ile485Thr)
c.1637T>C (p.Ile546Thr)
c.1568T>C (p.Ile523Thr)
n.2158T>C
11g.101473716A>TCA382440425TRPC6c.1802T>A (p.Ile601Asn)
c.1454T>A (p.Ile485Asn)
c.1637T>A (p.Ile546Asn)
c.1568T>A (p.Ile523Asn)
n.2158T>A
11g.101473717T>ACA382440426TRPC6c.1801A>T (p.Ile601Phe)
c.1453A>T (p.Ile485Phe)
c.1636A>T (p.Ile546Phe)
c.1567A>T (p.Ile523Phe)
n.2157A>T
11g.101473717T>CCA382440427TRPC6c.1801A>G (p.Ile601Val)
c.1453A>G (p.Ile485Val)
c.1636A>G (p.Ile546Val)
c.1567A>G (p.Ile523Val)
n.2157A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.101473717T>GCA382440428TRPC6c.1801A>C (p.Ile601Leu)
c.1453A>C (p.Ile485Leu)
c.1636A>C (p.Ile546Leu)
c.1567A>C (p.Ile523Leu)
n.2157A>C
11g.101473717T=CA1995831501TRPC6c.1801A= (p.Ile601=)
c.1453A= (p.Ile485=)
c.1636A= (p.Ile546=)
c.1567A= (p.Ile523=)
n.2157A=
11g.101473718T>ACA476546520TRPC6c.1800A>T (p.Ala600=)
c.1452A>T (p.Ala484=)
c.1635A>T (p.Ala545=)
c.1566A>T (p.Ala522=)
n.2156A>T
11g.101473718T>CCA476546518TRPC6c.1800A>G (p.Ala600=)
c.1452A>G (p.Ala484=)
c.1635A>G (p.Ala545=)
c.1566A>G (p.Ala522=)
n.2156A>G
11g.101473718T>GCA476546521TRPC6c.1800A>C (p.Ala600=)
c.1452A>C (p.Ala484=)
c.1635A>C (p.Ala545=)
c.1566A>C (p.Ala522=)
n.2156A>C
11g.101473719G>ACA382440429TRPC6c.1799C>T (p.Ala600Val)
c.1451C>T (p.Ala484Val)
c.1634C>T (p.Ala545Val)
c.1565C>T (p.Ala522Val)
n.2155C>T
 gnomAD v4
11g.101473719G>CCA382440431TRPC6c.1799C>G (p.Ala600Gly)
c.1451C>G (p.Ala484Gly)
c.1634C>G (p.Ala545Gly)
c.1565C>G (p.Ala522Gly)
n.2155C>G
 dbSNP
11g.101473719G>TCA382440430TRPC6c.1799C>A (p.Ala600Glu)
c.1451C>A (p.Ala484Glu)
c.1634C>A (p.Ala545Glu)
c.1565C>A (p.Ala522Glu)
n.2155C>A
11g.101473720C>ACA382440432TRPC6c.1798G>T (p.Ala600Ser)
c.1450G>T (p.Ala484Ser)
c.1633G>T (p.Ala545Ser)
c.1564G>T (p.Ala522Ser)
n.2154G>T
11g.101473720C>GCA382440433TRPC6c.1798G>C (p.Ala600Pro)
c.1450G>C (p.Ala484Pro)
c.1633G>C (p.Ala545Pro)
c.1564G>C (p.Ala522Pro)
n.2154G>C
11g.101473720C>TCA382440434TRPC6c.1798G>A (p.Ala600Thr)
c.1450G>A (p.Ala484Thr)
c.1633G>A (p.Ala545Thr)
c.1564G>A (p.Ala522Thr)
n.2154G>A
11g.101473721A>CCA382440435TRPC6c.1797T>G (p.Tyr599Ter)
c.1449T>G (p.Tyr483Ter)
c.1632T>G (p.Tyr544Ter)
c.1563T>G (p.Tyr521Ter)
n.2153T>G
11g.101473721A>GCA476546527TRPC6c.1797T>C (p.Tyr599=)
c.1449T>C (p.Tyr483=)
c.1632T>C (p.Tyr544=)
c.1563T>C (p.Tyr521=)
n.2153T>C
 gnomAD v4
11g.101473721A>TCA382440436TRPC6c.1797T>A (p.Tyr599Ter)
c.1449T>A (p.Tyr483Ter)
c.1632T>A (p.Tyr544Ter)
c.1563T>A (p.Tyr521Ter)
n.2153T>A
11g.101473721dupCA2724896694TRPC6c.1797dup (p.Ala600CysfsTer10)
c.1449dup (p.Ala484CysfsTer10)
c.1632dup (p.Ala545CysfsTer10)
c.1563dup (p.Ala522CysfsTer10)
n.2153dup
 dbSNP
11g.101473722T>ACA382440437TRPC6c.1796A>T (p.Tyr599Phe)
c.1448A>T (p.Tyr483Phe)
c.1631A>T (p.Tyr544Phe)
c.1562A>T (p.Tyr521Phe)
n.2152A>T
11g.101473722T>CCA382440439TRPC6c.1796A>G (p.Tyr599Cys)
c.1448A>G (p.Tyr483Cys)
c.1631A>G (p.Tyr544Cys)
c.1562A>G (p.Tyr521Cys)
n.2152A>G
11g.101473722T>GCA382440438TRPC6c.1796A>C (p.Tyr599Ser)
c.1448A>C (p.Tyr483Ser)
c.1631A>C (p.Tyr544Ser)
c.1562A>C (p.Tyr521Ser)
n.2152A>C
11g.101473723A>CCA382440440TRPC6c.1795T>G (p.Tyr599Asp)
c.1447T>G (p.Tyr483Asp)
c.1630T>G (p.Tyr544Asp)
c.1561T>G (p.Tyr521Asp)
n.2151T>G
11g.101473723A>GCA382440441TRPC6c.1795T>C (p.Tyr599His)
c.1447T>C (p.Tyr483His)
c.1630T>C (p.Tyr544His)
c.1561T>C (p.Tyr521His)
n.2151T>C
11g.101473723A>TCA382440442TRPC6c.1795T>A (p.Tyr599Asn)
c.1447T>A (p.Tyr483Asn)
c.1630T>A (p.Tyr544Asn)
c.1561T>A (p.Tyr521Asn)
n.2151T>A
11g.101473724_101473727dupCA2615685434TRPC6c.1792_1795dup (p.Tyr599SerfsTer12)
c.1444_1447dup (p.Tyr483SerfsTer12)
c.1627_1630dup (p.Tyr544SerfsTer12)
c.1558_1561dup (p.Tyr521SerfsTer12)
n.2148_2151dup
 gnomAD v4
11g.101473724A>CCA476546535TRPC6c.1794T>G (p.Leu598=)
c.1446T>G (p.Leu482=)
c.1629T>G (p.Leu543=)
c.1560T>G (p.Leu520=)
n.2150T>G
11g.101473724A>GCA476546537TRPC6c.1794T>C (p.Leu598=)
c.1446T>C (p.Leu482=)
c.1629T>C (p.Leu543=)
c.1560T>C (p.Leu520=)
n.2150T>C
11g.101473724A>TCA476546536TRPC6c.1794T>A (p.Leu598=)
c.1446T>A (p.Leu482=)
c.1629T>A (p.Leu543=)
c.1560T>A (p.Leu520=)
n.2150T>A
11g.101473725A>CCA382440443TRPC6c.1793T>G (p.Leu598Arg)
c.1445T>G (p.Leu482Arg)
c.1628T>G (p.Leu543Arg)
c.1559T>G (p.Leu520Arg)
n.2149T>G
11g.101473725A>GCA382440444TRPC6c.1793T>C (p.Leu598Pro)
c.1445T>C (p.Leu482Pro)
c.1628T>C (p.Leu543Pro)
c.1559T>C (p.Leu520Pro)
n.2149T>C
11g.101473725A>TCA382440445TRPC6c.1793T>A (p.Leu598His)
c.1445T>A (p.Leu482His)
c.1628T>A (p.Leu543His)
c.1559T>A (p.Leu520His)
n.2149T>A
11g.101473726G>ACA382440446TRPC6c.1792C>T (p.Leu598Phe)
c.1444C>T (p.Leu482Phe)
c.1627C>T (p.Leu543Phe)
c.1558C>T (p.Leu520Phe)
n.2148C>T
 gnomAD v4
11g.101473726G>CCA382440447TRPC6c.1792C>G (p.Leu598Val)
c.1444C>G (p.Leu482Val)
c.1627C>G (p.Leu543Val)
c.1558C>G (p.Leu520Val)
n.2148C>G
 COSMIC
11g.101473726G>TCA382440448TRPC6c.1792C>A (p.Leu598Ile)
c.1444C>A (p.Leu482Ile)
c.1627C>A (p.Leu543Ile)
c.1558C>A (p.Leu520Ile)
n.2148C>A
 COSMIC
11g.101473727A=CA1995831504TRPC6c.1791T= (p.Gly597=)
c.1443T= (p.Gly481=)
c.1626T= (p.Gly542=)
c.1557T= (p.Gly519=)
n.2147T=
11g.101473727A>CCA476546547TRPC6c.1791T>G (p.Gly597=)
c.1443T>G (p.Gly481=)
c.1626T>G (p.Gly542=)
c.1557T>G (p.Gly519=)
n.2147T>G
11g.101473727A>GCA476546548TRPC6c.1791T>C (p.Gly597=)
c.1443T>C (p.Gly481=)
c.1626T>C (p.Gly542=)
c.1557T>C (p.Gly519=)
n.2147T>C
 dbSNP
11g.101473727A>TCA476546549TRPC6c.1791T>A (p.Gly597=)
c.1443T>A (p.Gly481=)
c.1626T>A (p.Gly542=)
c.1557T>A (p.Gly519=)
n.2147T>A
11g.101473728C>ACA382440449TRPC6c.1790G>T (p.Gly597Val)
c.1442G>T (p.Gly481Val)
c.1625G>T (p.Gly542Val)
c.1556G>T (p.Gly519Val)
n.2146G>T
11g.101473728C>GCA382440450TRPC6c.1790G>C (p.Gly597Ala)
c.1442G>C (p.Gly481Ala)
c.1625G>C (p.Gly542Ala)
c.1556G>C (p.Gly519Ala)
n.2146G>C
11g.101473728C>TCA382440451TRPC6c.1790G>A (p.Gly597Asp)
c.1442G>A (p.Gly481Asp)
c.1625G>A (p.Gly542Asp)
c.1556G>A (p.Gly519Asp)
n.2146G>A
11g.101473729C>ACA382440452TRPC6c.1789G>T (p.Gly597Cys)
c.1441G>T (p.Gly481Cys)
c.1624G>T (p.Gly542Cys)
c.1555G>T (p.Gly519Cys)
n.2145G>T
11g.101473729C=CA1995831507TRPC6c.1789G= (p.Gly597=)
c.1441G= (p.Gly481=)
c.1624G= (p.Gly542=)
c.1555G= (p.Gly519=)
n.2145G=
11g.101473729C>GCA382440454TRPC6c.1789G>C (p.Gly597Arg)
c.1441G>C (p.Gly481Arg)
c.1624G>C (p.Gly542Arg)
c.1555G>C (p.Gly519Arg)
n.2145G>C
11g.101473729C>TCA382440453TRPC6c.1789G>A (p.Gly597Ser)
c.1441G>A (p.Gly481Ser)
c.1624G>A (p.Gly542Ser)
c.1555G>A (p.Gly519Ser)
n.2145G>A
 dbSNP
11g.101473730T>ACA382440455TRPC6c.1788A>T (p.Glu596Asp)
c.1440A>T (p.Glu480Asp)
c.1623A>T (p.Glu541Asp)
c.1554A>T (p.Glu518Asp)
n.2144A>T
11g.101473730T>CCA476546555TRPC6c.1788A>G (p.Glu596=)
c.1440A>G (p.Glu480=)
c.1623A>G (p.Glu541=)
c.1554A>G (p.Glu518=)
n.2144A>G
11g.101473730T>GCA382440456TRPC6c.1788A>C (p.Glu596Asp)
c.1440A>C (p.Glu480Asp)
c.1623A>C (p.Glu541Asp)
c.1554A>C (p.Glu518Asp)
n.2144A>C
11g.101473731T>ACA382440457TRPC6c.1787A>T (p.Glu596Val)
c.1439A>T (p.Glu480Val)
c.1622A>T (p.Glu541Val)
c.1553A>T (p.Glu518Val)
n.2143A>T
11g.101473731T>CCA382440458TRPC6c.1787A>G (p.Glu596Gly)
c.1439A>G (p.Glu480Gly)
c.1622A>G (p.Glu541Gly)
c.1553A>G (p.Glu518Gly)
n.2143A>G
11g.101473731T>GCA382440459TRPC6c.1787A>C (p.Glu596Ala)
c.1439A>C (p.Glu480Ala)
c.1622A>C (p.Glu541Ala)
c.1553A>C (p.Glu518Ala)
n.2143A>C
11g.101473732C>ACA382440460TRPC6c.1786G>T (p.Glu596Ter)
c.1438G>T (p.Glu480Ter)
c.1621G>T (p.Glu541Ter)
c.1552G>T (p.Glu518Ter)
n.2142G>T
11g.101473732C>GCA382440461TRPC6c.1786G>C (p.Glu596Gln)
c.1438G>C (p.Glu480Gln)
c.1621G>C (p.Glu541Gln)
c.1552G>C (p.Glu518Gln)
n.2142G>C
11g.101473732C>TCA382440462TRPC6c.1786G>A (p.Glu596Lys)
c.1438G>A (p.Glu480Lys)
c.1621G>A (p.Glu541Lys)
c.1552G>A (p.Glu518Lys)
n.2142G>A
11g.101473733A>CCA476546569TRPC6c.1785T>G (p.Ser595=)
c.1437T>G (p.Ser479=)
c.1620T>G (p.Ser540=)
c.1551T>G (p.Ser517=)
n.2141T>G
11g.101473733A>GCA476546564TRPC6c.1785T>C (p.Ser595=)
c.1437T>C (p.Ser479=)
c.1620T>C (p.Ser540=)
c.1551T>C (p.Ser517=)
n.2141T>C
 gnomAD v4
11g.101473733A>TCA476546567TRPC6c.1785T>A (p.Ser595=)
c.1437T>A (p.Ser479=)
c.1620T>A (p.Ser540=)
c.1551T>A (p.Ser517=)
n.2141T>A
11g.101473734G>ACA382440463TRPC6c.1784C>T (p.Ser595Phe)
c.1436C>T (p.Ser479Phe)
c.1619C>T (p.Ser540Phe)
c.1550C>T (p.Ser517Phe)
n.2140C>T
11g.101473734G>CCA382440464TRPC6c.1784C>G (p.Ser595Cys)
c.1436C>G (p.Ser479Cys)
c.1619C>G (p.Ser540Cys)
c.1550C>G (p.Ser517Cys)
n.2140C>G
11g.101473734G>TCA382440465TRPC6c.1784C>A (p.Ser595Tyr)
c.1436C>A (p.Ser479Tyr)
c.1619C>A (p.Ser540Tyr)
c.1550C>A (p.Ser517Tyr)
n.2140C>A
11g.101473735A>CCA382440466TRPC6c.1783T>G (p.Ser595Ala)
c.1435T>G (p.Ser479Ala)
c.1618T>G (p.Ser540Ala)
c.1549T>G (p.Ser517Ala)
n.2139T>G
11g.101473735A>GCA382440467TRPC6c.1783T>C (p.Ser595Pro)
c.1435T>C (p.Ser479Pro)
c.1618T>C (p.Ser540Pro)
c.1549T>C (p.Ser517Pro)
n.2139T>C
11g.101473735A>TCA382440468TRPC6c.1783T>A (p.Ser595Thr)
c.1435T>A (p.Ser479Thr)
c.1618T>A (p.Ser540Thr)
c.1549T>A (p.Ser517Thr)
n.2139T>A
11g.101473736T>ACA476546583TRPC6c.1782A>T (p.Ile594=)
c.1434A>T (p.Ile478=)
c.1617A>T (p.Ile539=)
c.1548A>T (p.Ile516=)
n.2138A>T
11g.101473736T>CCA382440469TRPC6c.1782A>G (p.Ile594Met)
c.1434A>G (p.Ile478Met)
c.1617A>G (p.Ile539Met)
c.1548A>G (p.Ile516Met)
n.2138A>G
 gnomAD v4
11g.101473736T>GCA476546585TRPC6c.1782A>C (p.Ile594=)
c.1434A>C (p.Ile478=)
c.1617A>C (p.Ile539=)
c.1548A>C (p.Ile516=)
n.2138A>C
11g.101473737A>CCA382440470TRPC6c.1781T>G (p.Ile594Arg)
c.1433T>G (p.Ile478Arg)
c.1616T>G (p.Ile539Arg)
c.1547T>G (p.Ile516Arg)
n.2137T>G
11g.101473737A>GCA382440471TRPC6c.1781T>C (p.Ile594Thr)
c.1433T>C (p.Ile478Thr)
c.1616T>C (p.Ile539Thr)
c.1547T>C (p.Ile516Thr)
n.2137T>C
11g.101473737A>TCA382440472TRPC6c.1781T>A (p.Ile594Lys)
c.1433T>A (p.Ile478Lys)
c.1616T>A (p.Ile539Lys)
c.1547T>A (p.Ile516Lys)
n.2137T>A
11g.101473738T>ACA382440473TRPC6c.1780A>T (p.Ile594Leu)
c.1432A>T (p.Ile478Leu)
c.1615A>T (p.Ile539Leu)
c.1546A>T (p.Ile516Leu)
n.2136A>T
11g.101473738T>CCA6244249TRPC6c.1780A>G (p.Ile594Val)
c.1432A>G (p.Ile478Val)
c.1615A>G (p.Ile539Val)
c.1546A>G (p.Ile516Val)
n.2136A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.101473738T>GCA382440474TRPC6c.1780A>C (p.Ile594Leu)
c.1432A>C (p.Ile478Leu)
c.1615A>C (p.Ile539Leu)
c.1546A>C (p.Ile516Leu)
n.2136A>C
11g.101473738T=CA1995831509TRPC6c.1780A= (p.Ile594=)
c.1432A= (p.Ile478=)
c.1615A= (p.Ile539=)
c.1546A= (p.Ile516=)
n.2136A=
11g.101473739T>ACA476546592TRPC6c.1779A>T (p.Ile593=)
c.1431A>T (p.Ile477=)
c.1614A>T (p.Ile538=)
c.1545A>T (p.Ile515=)
n.2135A>T
11g.101473739T>CCA382440475TRPC6c.1779A>G (p.Ile593Met)
c.1431A>G (p.Ile477Met)
c.1614A>G (p.Ile538Met)
c.1545A>G (p.Ile515Met)
n.2135A>G
11g.101473739T>GCA476546595TRPC6c.1779A>C (p.Ile593=)
c.1431A>C (p.Ile477=)
c.1614A>C (p.Ile538=)
c.1545A>C (p.Ile515=)
n.2135A>C
 gnomAD v4
11g.101473740A>CCA382440476TRPC6c.1778T>G (p.Ile593Arg)
c.1430T>G (p.Ile477Arg)
c.1613T>G (p.Ile538Arg)
c.1544T>G (p.Ile515Arg)
n.2134T>G
11g.101473740A>GCA382440477TRPC6c.1778T>C (p.Ile593Thr)
c.1430T>C (p.Ile477Thr)
c.1613T>C (p.Ile538Thr)
c.1544T>C (p.Ile515Thr)
n.2134T>C
11g.101473740A>TCA382440478TRPC6c.1778T>A (p.Ile593Lys)
c.1430T>A (p.Ile477Lys)
c.1613T>A (p.Ile538Lys)
c.1544T>A (p.Ile515Lys)
n.2134T>A
11g.101473741T>ACA382440479TRPC6c.1777A>T (p.Ile593Leu)
c.1429A>T (p.Ile477Leu)
c.1612A>T (p.Ile538Leu)
c.1543A>T (p.Ile515Leu)
n.2133A>T
11g.101473741T>CCA382440480TRPC6c.1777A>G (p.Ile593Val)
c.1429A>G (p.Ile477Val)
c.1612A>G (p.Ile538Val)
c.1543A>G (p.Ile515Val)
n.2133A>G
11g.101473741T>GCA382440481TRPC6c.1777A>C (p.Ile593Leu)
c.1429A>C (p.Ile477Leu)
c.1612A>C (p.Ile538Leu)
c.1543A>C (p.Ile515Leu)
n.2133A>C
11g.101473742T>ACA382440482TRPC6c.1776A>T (p.Gln592His)
c.1428A>T (p.Gln476His)
c.1611A>T (p.Gln537His)
c.1542A>T (p.Gln514His)
n.2132A>T
11g.101473742T>CCA476546605TRPC6c.1776A>G (p.Gln592=)
c.1428A>G (p.Gln476=)
c.1611A>G (p.Gln537=)
c.1542A>G (p.Gln514=)
n.2132A>G
11g.101473742T>GCA382440483TRPC6c.1776A>C (p.Gln592His)
c.1428A>C (p.Gln476His)
c.1611A>C (p.Gln537His)
c.1542A>C (p.Gln514His)
n.2132A>C
11g.101473743T>ACA382440484TRPC6c.1775A>T (p.Gln592Leu)
c.1427A>T (p.Gln476Leu)
c.1610A>T (p.Gln537Leu)
c.1541A>T (p.Gln514Leu)
n.2131A>T
11g.101473743T>CCA382440485TRPC6c.1775A>G (p.Gln592Arg)
c.1427A>G (p.Gln476Arg)
c.1610A>G (p.Gln537Arg)
c.1541A>G (p.Gln514Arg)
n.2131A>G
11g.101473743T>GCA382440486TRPC6c.1775A>C (p.Gln592Pro)
c.1427A>C (p.Gln476Pro)
c.1610A>C (p.Gln537Pro)
c.1541A>C (p.Gln514Pro)
n.2131A>C
11g.101473744G>ACA382440487TRPC6c.1774C>T (p.Gln592Ter)
c.1426C>T (p.Gln476Ter)
c.1609C>T (p.Gln537Ter)
c.1540C>T (p.Gln514Ter)
n.2130C>T
11g.101473744G>CCA382440488TRPC6c.1774C>G (p.Gln592Glu)
c.1426C>G (p.Gln476Glu)
c.1609C>G (p.Gln537Glu)
c.1540C>G (p.Gln514Glu)
n.2130C>G
11g.101473744G>TCA382440489TRPC6c.1774C>A (p.Gln592Lys)
c.1426C>A (p.Gln476Lys)
c.1609C>A (p.Gln537Lys)
c.1540C>A (p.Gln514Lys)
n.2130C>A
11g.101473745A>CCA476546611TRPC6c.1773T>G (p.Pro591=)
c.1425T>G (p.Pro475=)
c.1608T>G (p.Pro536=)
c.1539T>G (p.Pro513=)
n.2129T>G
11g.101473745A>GCA476546613TRPC6c.1773T>C (p.Pro591=)
c.1425T>C (p.Pro475=)
c.1608T>C (p.Pro536=)
c.1539T>C (p.Pro513=)
n.2129T>C
11g.101473745A>TCA476546614TRPC6c.1773T>A (p.Pro591=)
c.1425T>A (p.Pro475=)
c.1608T>A (p.Pro536=)
c.1539T>A (p.Pro513=)
n.2129T>A
11g.101473746G>ACA382440492TRPC6c.1772C>T (p.Pro591Leu)
c.1424C>T (p.Pro475Leu)
c.1607C>T (p.Pro536Leu)
c.1538C>T (p.Pro513Leu)
n.2128C>T
11g.101473746G>CCA382440490TRPC6c.1772C>G (p.Pro591Arg)
c.1424C>G (p.Pro475Arg)
c.1607C>G (p.Pro536Arg)
c.1538C>G (p.Pro513Arg)
n.2128C>G
11g.101473746G>TCA382440491TRPC6c.1772C>A (p.Pro591His)
c.1424C>A (p.Pro475His)
c.1607C>A (p.Pro536His)
c.1538C>A (p.Pro513His)
n.2128C>A
11g.101473747G>ACA382440493TRPC6c.1771C>T (p.Pro591Ser)
c.1423C>T (p.Pro475Ser)
c.1606C>T (p.Pro536Ser)
c.1537C>T (p.Pro513Ser)
n.2127C>T
11g.101473747G>CCA382440494TRPC6c.1771C>G (p.Pro591Ala)
c.1423C>G (p.Pro475Ala)
c.1606C>G (p.Pro536Ala)
c.1537C>G (p.Pro513Ala)
n.2127C>G
11g.101473747G>TCA382440495TRPC6c.1771C>A (p.Pro591Thr)
c.1423C>A (p.Pro475Thr)
c.1606C>A (p.Pro536Thr)
c.1537C>A (p.Pro513Thr)
n.2127C>A
11g.101473748A>CCA382440496TRPC6c.1770T>G (p.Asp590Glu)
c.1422T>G (p.Asp474Glu)
c.1605T>G (p.Asp535Glu)
c.1536T>G (p.Asp512Glu)
n.2126T>G
11g.101473748A>GCA476546619TRPC6c.1770T>C (p.Asp590=)
c.1422T>C (p.Asp474=)
c.1605T>C (p.Asp535=)
c.1536T>C (p.Asp512=)
n.2126T>C
 gnomAD v4
11g.101473748A>TCA382440497TRPC6c.1770T>A (p.Asp590Glu)
c.1422T>A (p.Asp474Glu)
c.1605T>A (p.Asp535Glu)
c.1536T>A (p.Asp512Glu)
n.2126T>A
11g.101473749T>ACA382440500TRPC6c.1769A>T (p.Asp590Val)
c.1421A>T (p.Asp474Val)
c.1604A>T (p.Asp535Val)
c.1535A>T (p.Asp512Val)
n.2125A>T
11g.101473749T>CCA382440498TRPC6c.1769A>G (p.Asp590Gly)
c.1421A>G (p.Asp474Gly)
c.1604A>G (p.Asp535Gly)
c.1535A>G (p.Asp512Gly)
n.2125A>G
11g.101473749T>GCA382440499TRPC6c.1769A>C (p.Asp590Ala)
c.1421A>C (p.Asp474Ala)
c.1604A>C (p.Asp535Ala)
c.1535A>C (p.Asp512Ala)
n.2125A>C
11g.101473750C>ACA382440501TRPC6c.1768G>T (p.Asp590Tyr)
c.1420G>T (p.Asp474Tyr)
c.1603G>T (p.Asp535Tyr)
c.1534G>T (p.Asp512Tyr)
n.2124G>T
 dbSNP
11g.101473750C=CA1995831513TRPC6c.1768G= (p.Asp590=)
c.1420G= (p.Asp474=)
c.1603G= (p.Asp535=)
c.1534G= (p.Asp512=)
n.2124G=
11g.101473750C>GCA382440502TRPC6c.1768G>C (p.Asp590His)
c.1420G>C (p.Asp474His)
c.1603G>C (p.Asp535His)
c.1534G>C (p.Asp512His)
n.2124G>C
11g.101473750C>TCA382440503TRPC6c.1768G>A (p.Asp590Asn)
c.1420G>A (p.Asp474Asn)
c.1603G>A (p.Asp535Asn)
c.1534G>A (p.Asp512Asn)
n.2124G>A
 COSMIC
11g.101473751A>CCA476546625TRPC6c.1767T>G (p.Ser589=)
c.1419T>G (p.Ser473=)
c.1602T>G (p.Ser534=)
c.1533T>G (p.Ser511=)
n.2123T>G
11g.101473751A>GCA476546626TRPC6c.1767T>C (p.Ser589=)
c.1419T>C (p.Ser473=)
c.1602T>C (p.Ser534=)
c.1533T>C (p.Ser511=)
n.2123T>C
 dbSNP
11g.101473751A>TCA476546627TRPC6c.1767T>A (p.Ser589=)
c.1419T>A (p.Ser473=)
c.1602T>A (p.Ser534=)
c.1533T>A (p.Ser511=)
n.2123T>A
11g.101473752G>ACA382440504TRPC6c.1766C>T (p.Ser589Phe)
c.1418C>T (p.Ser473Phe)
c.1601C>T (p.Ser534Phe)
c.1532C>T (p.Ser511Phe)
n.2122C>T
11g.101473752G>CCA10581538TRPC6c.1766C>G (p.Ser589Cys)
c.1418C>G (p.Ser473Cys)
c.1601C>G (p.Ser534Cys)
c.1532C>G (p.Ser511Cys)
n.2122C>G
 ClinVar dbSNP
11g.101473752G=CA1995831517TRPC6c.1766C= (p.Ser589=)
c.1418C= (p.Ser473=)
c.1601C= (p.Ser534=)
c.1532C= (p.Ser511=)
n.2122C=
11g.101473752G>TCA382440505TRPC6c.1766C>A (p.Ser589Tyr)
c.1418C>A (p.Ser473Tyr)
c.1601C>A (p.Ser534Tyr)
c.1532C>A (p.Ser511Tyr)
n.2122C>A
11g.101473753A>CCA382440506TRPC6c.1765T>G (p.Ser589Ala)
c.1417T>G (p.Ser473Ala)
c.1600T>G (p.Ser534Ala)
c.1531T>G (p.Ser511Ala)
n.2121T>G
11g.101473753A>GCA382440507TRPC6c.1765T>C (p.Ser589Pro)
c.1417T>C (p.Ser473Pro)
c.1600T>C (p.Ser534Pro)
c.1531T>C (p.Ser511Pro)
n.2121T>C
11g.101473753A>TCA382440508TRPC6c.1765T>A (p.Ser589Thr)
c.1417T>A (p.Ser473Thr)
c.1600T>A (p.Ser534Thr)
c.1531T>A (p.Ser511Thr)
n.2121T>A
11g.101473754G>ACA476546639TRPC6c.1764C>T (p.Pro588=)
c.1416C>T (p.Pro472=)
c.1599C>T (p.Pro533=)
c.1530C>T (p.Pro510=)
n.2120C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.101473754G>CCA6244250TRPC6c.1764C>G (p.Pro588=)
c.1416C>G (p.Pro472=)
c.1599C>G (p.Pro533=)
c.1530C>G (p.Pro510=)
n.2120C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.101473754G=CA1995831520TRPC6c.1764C= (p.Pro588=)
c.1416C= (p.Pro472=)
c.1599C= (p.Pro533=)
c.1530C= (p.Pro510=)
n.2120C=
11g.101473754G>TCA476546634TRPC6c.1764C>A (p.Pro588=)
c.1416C>A (p.Pro472=)
c.1599C>A (p.Pro533=)
c.1530C>A (p.Pro510=)
n.2120C>A

Number of alleles fetched