Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
11g.101473755G>ACA382440509TRPC6c.1763C>T (p.Pro588Leu)
c.1415C>T (p.Pro472Leu)
c.1598C>T (p.Pro533Leu)
c.1529C>T (p.Pro510Leu)
n.2119C>T
11g.101473755G>CCA382440510TRPC6c.1763C>G (p.Pro588Arg)
c.1415C>G (p.Pro472Arg)
c.1598C>G (p.Pro533Arg)
c.1529C>G (p.Pro510Arg)
n.2119C>G
11g.101473755G>TCA382440511TRPC6c.1763C>A (p.Pro588His)
c.1415C>A (p.Pro472His)
c.1598C>A (p.Pro533His)
c.1529C>A (p.Pro510His)
n.2119C>A
11g.101473756G>ACA382440514TRPC6c.1762C>T (p.Pro588Ser)
c.1414C>T (p.Pro472Ser)
c.1597C>T (p.Pro533Ser)
c.1528C>T (p.Pro510Ser)
n.2118C>T
11g.101473756G>CCA382440512TRPC6c.1762C>G (p.Pro588Ala)
c.1414C>G (p.Pro472Ala)
c.1597C>G (p.Pro533Ala)
c.1528C>G (p.Pro510Ala)
n.2118C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.101473756G=CA1995831526TRPC6c.1762C= (p.Pro588=)
c.1414C= (p.Pro472=)
c.1597C= (p.Pro533=)
c.1528C= (p.Pro510=)
n.2118C=
11g.101473756G>TCA382440513TRPC6c.1762C>A (p.Pro588Thr)
c.1414C>A (p.Pro472Thr)
c.1597C>A (p.Pro533Thr)
c.1528C>A (p.Pro510Thr)
n.2118C>A
11g.101473757G>ACA6244253TRPC6c.1761C>T (p.Asp587=)
c.1413C>T (p.Asp471=)
c.1596C>T (p.Asp532=)
c.1527C>T (p.Asp509=)
n.2117C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.101473757G>CCA382440515TRPC6c.1761C>G (p.Asp587Glu)
c.1413C>G (p.Asp471Glu)
c.1596C>G (p.Asp532Glu)
c.1527C>G (p.Asp509Glu)
n.2117C>G
11g.101473757G=CA1995831531TRPC6c.1761C= (p.Asp587=)
c.1413C= (p.Asp471=)
c.1596C= (p.Asp532=)
c.1527C= (p.Asp509=)
n.2117C=
11g.101473757G>TCA6244251TRPC6c.1761C>A (p.Asp587Glu)
c.1413C>A (p.Asp471Glu)
c.1596C>A (p.Asp532Glu)
c.1527C>A (p.Asp509Glu)
n.2117C>A
 dbSNP ExAC gnomAD v2
11g.101473758T>ACA382440516TRPC6c.1760A>T (p.Asp587Val)
c.1412A>T (p.Asp471Val)
c.1595A>T (p.Asp532Val)
c.1526A>T (p.Asp509Val)
n.2116A>T
11g.101473758T>CCA382440517TRPC6c.1760A>G (p.Asp587Gly)
c.1412A>G (p.Asp471Gly)
c.1595A>G (p.Asp532Gly)
c.1526A>G (p.Asp509Gly)
n.2116A>G
11g.101473758T>GCA382440518TRPC6c.1760A>C (p.Asp587Ala)
c.1412A>C (p.Asp471Ala)
c.1595A>C (p.Asp532Ala)
c.1526A>C (p.Asp509Ala)
n.2116A>C
11g.101473758dupCA6244252TRPC6c.1760dup (p.Asp587GlufsTer4)
c.1412dup (p.Asp471GlufsTer4)
c.1595dup (p.Asp532GlufsTer4)
c.1526dup (p.Asp509GlufsTer4)
n.2116dup
 dbSNP ExAC gnomAD v4
11g.101473759C>ACA382440519TRPC6c.1759G>T (p.Asp587Tyr)
c.1411G>T (p.Asp471Tyr)
c.1594G>T (p.Asp532Tyr)
c.1525G>T (p.Asp509Tyr)
n.2115G>T
11g.101473759C>GCA382440520TRPC6c.1759G>C (p.Asp587His)
c.1411G>C (p.Asp471His)
c.1594G>C (p.Asp532His)
c.1525G>C (p.Asp509His)
n.2115G>C
11g.101473759C>TCA382440521TRPC6c.1759G>A (p.Asp587Asn)
c.1411G>A (p.Asp471Asn)
c.1594G>A (p.Asp532Asn)
c.1525G>A (p.Asp509Asn)
n.2115G>A
11g.101473760C>ACA382440522TRPC6c.1758G>T (p.Trp586Cys)
c.1410G>T (p.Trp470Cys)
c.1593G>T (p.Trp531Cys)
c.1524G>T (p.Trp508Cys)
n.2114G>T
11g.101473760C>GCA382440523TRPC6c.1758G>C (p.Trp586Cys)
c.1410G>C (p.Trp470Cys)
c.1593G>C (p.Trp531Cys)
c.1524G>C (p.Trp508Cys)
n.2114G>C
11g.101473760C>TCA382440524TRPC6c.1758G>A (p.Trp586Ter)
c.1410G>A (p.Trp470Ter)
c.1593G>A (p.Trp531Ter)
c.1524G>A (p.Trp508Ter)
n.2114G>A
11g.101473761C>ACA382440527TRPC6c.1757G>T (p.Trp586Leu)
c.1409G>T (p.Trp470Leu)
c.1592G>T (p.Trp531Leu)
c.1523G>T (p.Trp508Leu)
n.2113G>T
11g.101473761C>GCA382440526TRPC6c.1757G>C (p.Trp586Ser)
c.1409G>C (p.Trp470Ser)
c.1592G>C (p.Trp531Ser)
c.1523G>C (p.Trp508Ser)
n.2113G>C
11g.101473761C>TCA382440525TRPC6c.1757G>A (p.Trp586Ter)
c.1409G>A (p.Trp470Ter)
c.1592G>A (p.Trp531Ter)
c.1523G>A (p.Trp508Ter)
n.2113G>A
11g.101473762A>CCA382440528TRPC6c.1756T>G (p.Trp586Gly)
c.1408T>G (p.Trp470Gly)
c.1591T>G (p.Trp531Gly)
c.1522T>G (p.Trp508Gly)
n.2112T>G
11g.101473762A>GCA382440529TRPC6c.1756T>C (p.Trp586Arg)
c.1408T>C (p.Trp470Arg)
c.1591T>C (p.Trp531Arg)
c.1522T>C (p.Trp508Arg)
n.2112T>C
11g.101473762A>TCA382440530TRPC6c.1756T>A (p.Trp586Arg)
c.1408T>A (p.Trp470Arg)
c.1591T>A (p.Trp531Arg)
c.1522T>A (p.Trp508Arg)
n.2112T>A
11g.101473763C>ACA382440531TRPC6c.1755G>T (p.Lys585Asn)
c.1407G>T (p.Lys469Asn)
c.1590G>T (p.Lys530Asn)
c.1521G>T (p.Lys507Asn)
n.2111G>T
11g.101473763C=CA1995831536TRPC6c.1755G= (p.Lys585=)
c.1407G= (p.Lys469=)
c.1590G= (p.Lys530=)
c.1521G= (p.Lys507=)
n.2111G=
11g.101473763C>GCA382440532TRPC6c.1755G>C (p.Lys585Asn)
c.1407G>C (p.Lys469Asn)
c.1590G>C (p.Lys530Asn)
c.1521G>C (p.Lys507Asn)
n.2111G>C
11g.101473763C>TCA6244254TRPC6c.1755G>A (p.Lys585=)
c.1407G>A (p.Lys469=)
c.1590G>A (p.Lys530=)
c.1521G>A (p.Lys507=)
n.2111G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.101473764T>ACA382440533TRPC6c.1754A>T (p.Lys585Met)
c.1406A>T (p.Lys469Met)
c.1589A>T (p.Lys530Met)
c.1520A>T (p.Lys507Met)
n.2110A>T
11g.101473764T>CCA382440534TRPC6c.1754A>G (p.Lys585Arg)
c.1406A>G (p.Lys469Arg)
c.1589A>G (p.Lys530Arg)
c.1520A>G (p.Lys507Arg)
n.2110A>G
11g.101473764T>GCA382440535TRPC6c.1754A>C (p.Lys585Thr)
c.1406A>C (p.Lys469Thr)
c.1589A>C (p.Lys530Thr)
c.1520A>C (p.Lys507Thr)
n.2110A>C
11g.101473765T>ACA382440536TRPC6c.1753A>T (p.Lys585Ter)
c.1405A>T (p.Lys469Ter)
c.1588A>T (p.Lys530Ter)
c.1519A>T (p.Lys507Ter)
n.2109A>T
11g.101473765T>CCA382440537TRPC6c.1753A>G (p.Lys585Glu)
c.1405A>G (p.Lys469Glu)
c.1588A>G (p.Lys530Glu)
c.1519A>G (p.Lys507Glu)
n.2109A>G
11g.101473765T>GCA382440538TRPC6c.1753A>C (p.Lys585Gln)
c.1405A>C (p.Lys469Gln)
c.1588A>C (p.Lys530Gln)
c.1519A>C (p.Lys507Gln)
n.2109A>C
11g.101473766T>ACA476546664TRPC6c.1752A>T (p.Ile584=)
c.1404A>T (p.Ile468=)
c.1587A>T (p.Ile529=)
c.1518A>T (p.Ile506=)
n.2108A>T
11g.101473766T>CCA382440539TRPC6c.1752A>G (p.Ile584Met)
c.1404A>G (p.Ile468Met)
c.1587A>G (p.Ile529Met)
c.1518A>G (p.Ile506Met)
n.2108A>G

Number of alleles fetched