Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.30897011C>ACA2711131367DDR1c.1870-3C>A (n.1870-3C>A)
c.1759-3C>A (n.1759-3C>A)
c.1066-3C>A (n.1066-3C>A)
c.1432-3C>A (n.1432-3C>A)
n.236-3C>A
c.*927-3C>A (n.*927-3C>A)
c.1813-3C>A (n.1813-3C>A)
n.154-3C>A
c.344-3C>A
c.1514-3C>A (n.1514-3C>A)
c.1924-3C>A (n.1924-3C>A)
dbSNP
6g.30897011C=CA1618917612DDR1c.1870-3C= (n.1870-3C=)
c.1759-3C= (n.1759-3C=)
c.1066-3C= (n.1066-3C=)
c.1432-3C= (n.1432-3C=)
n.236-3C=
c.*927-3C= (n.*927-3C=)
c.1813-3C= (n.1813-3C=)
n.154-3C=
c.344-3C=
c.1514-3C= (n.1514-3C=)
c.1924-3C= (n.1924-3C=)
6g.30897011C>TCA3704723DDR1c.1870-3C>T (n.1870-3C>T)
c.1759-3C>T (n.1759-3C>T)
c.1066-3C>T (n.1066-3C>T)
c.1432-3C>T (n.1432-3C>T)
n.236-3C>T
c.*927-3C>T (n.*927-3C>T)
c.1813-3C>T (n.1813-3C>T)
n.154-3C>T
c.344-3C>T
c.1514-3C>T (n.1514-3C>T)
c.1924-3C>T (n.1924-3C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.30897012A>CCA363137091DDR1c.1870-2A>C (n.1870-2A>C)
c.1759-2A>C (n.1759-2A>C)
c.1066-2A>C (n.1066-2A>C)
c.1432-2A>C (n.1432-2A>C)
n.236-2A>C
c.*927-2A>C (n.*927-2A>C)
c.1813-2A>C (n.1813-2A>C)
n.154-2A>C
c.344-2A>C
c.1514-2A>C (n.1514-2A>C)
c.1924-2A>C (n.1924-2A>C)
6g.30897012A>GCA363137093DDR1c.1870-2A>G (n.1870-2A>G)
c.1759-2A>G (n.1759-2A>G)
c.1066-2A>G (n.1066-2A>G)
c.1432-2A>G (n.1432-2A>G)
n.236-2A>G
c.*927-2A>G (n.*927-2A>G)
c.1813-2A>G (n.1813-2A>G)
n.154-2A>G
c.344-2A>G
c.1514-2A>G (n.1514-2A>G)
c.1924-2A>G (n.1924-2A>G)
6g.30897012A>TCA363137096DDR1c.1870-2A>T (n.1870-2A>T)
c.1759-2A>T (n.1759-2A>T)
c.1066-2A>T (n.1066-2A>T)
c.1432-2A>T (n.1432-2A>T)
n.236-2A>T
c.*927-2A>T (n.*927-2A>T)
c.1813-2A>T (n.1813-2A>T)
n.154-2A>T
c.344-2A>T
c.1514-2A>T (n.1514-2A>T)
c.1924-2A>T (n.1924-2A>T)
6g.30897012_30897013delinsAGCA1618917613DDR1c.1870-2_1870-1delinsAG (n.1870-2_1870-1delinsAG)
c.1759-2_1759-1delinsAG (n.1759-2_1759-1delinsAG)
c.1066-2_1066-1delinsAG (n.1066-2_1066-1delinsAG)
c.1432-2_1432-1delinsAG (n.1432-2_1432-1delinsAG)
n.236-2_236-1delinsAG
c.*927-2_*927-1delinsAG (n.*927-2_*927-1delinsAG)
c.1813-2_1813-1delinsAG (n.1813-2_1813-1delinsAG)
n.154-2_154-1delinsAG
c.344-2_344-1delinsAG
c.1514-2_1514-1delinsAG (n.1514-2_1514-1delinsAG)
c.1924-2_1924-1delinsAG (n.1924-2_1924-1delinsAG)
6g.30897013G>ACA363137104DDR1c.1870-1G>A (n.1870-1G>A)
c.1759-1G>A (n.1759-1G>A)
c.1066-1G>A (n.1066-1G>A)
c.1432-1G>A (n.1432-1G>A)
n.236-1G>A
c.*927-1G>A (n.*927-1G>A)
c.1813-1G>A (n.1813-1G>A)
n.154-1G>A
c.344-1G>A
c.1514-1G>A (n.1514-1G>A)
c.1924-1G>A (n.1924-1G>A)
6g.30897013G>CCA363137101DDR1c.1870-1G>C (n.1870-1G>C)
c.1759-1G>C (n.1759-1G>C)
c.1066-1G>C (n.1066-1G>C)
c.1432-1G>C (n.1432-1G>C)
n.236-1G>C
c.*927-1G>C (n.*927-1G>C)
c.1813-1G>C (n.1813-1G>C)
n.154-1G>C
c.344-1G>C
c.1514-1G>C (n.1514-1G>C)
c.1924-1G>C (n.1924-1G>C)
dbSNP
6g.30897013G=CA1618917614DDR1c.1870-1G= (n.1870-1G=)
c.1759-1G= (n.1759-1G=)
c.1066-1G= (n.1066-1G=)
c.1432-1G= (n.1432-1G=)
n.236-1G=
c.*927-1G= (n.*927-1G=)
c.1813-1G= (n.1813-1G=)
n.154-1G=
c.344-1G=
c.1514-1G= (n.1514-1G=)
c.1924-1G= (n.1924-1G=)
6g.30897013G>TCA363137099DDR1c.1870-1G>T (n.1870-1G>T)
c.1759-1G>T (n.1759-1G>T)
c.1066-1G>T (n.1066-1G>T)
c.1432-1G>T (n.1432-1G>T)
n.236-1G>T
c.*927-1G>T (n.*927-1G>T)
c.1813-1G>T (n.1813-1G>T)
n.154-1G>T
c.344-1G>T
c.1514-1G>T (n.1514-1G>T)
c.1924-1G>T (n.1924-1G>T)
6g.30897014delCA1087400526DDR1c.1870del
c.1759del
c.1066del
c.1432del
n.236del
c.*927del
c.1813del
n.154del
c.344del
c.1514del
c.1924del
dbSNP gnomAD v3 gnomAD v4
6g.30897014G>ACA363137108DDR1c.1870G>A (p.Val624Met)
c.1759G>A (p.Val587Met)
c.1066G>A (p.Val356Met)
c.1432G>A (p.Val478Met)
n.236G>A
c.*927G>A (n.*927G>A)
c.1813G>A (p.Val605Met)
n.154G>A
c.344G>A
c.1514G>A (p.Gly505Asp)
c.1924G>A (p.Val642Met)
dbSNP gnomAD v3 gnomAD v4
6g.30897014G>CCA363137110DDR1c.1870G>C (p.Val624Leu)
c.1759G>C (p.Val587Leu)
c.1066G>C (p.Val356Leu)
c.1432G>C (p.Val478Leu)
n.236G>C
c.*927G>C (n.*927G>C)
c.1813G>C (p.Val605Leu)
n.154G>C
c.344G>C
c.1514G>C (p.Gly505Ala)
c.1924G>C (p.Val642Leu)
6g.30897014G=CA1618917615DDR1c.1870G= (p.Val624=)
c.1759G= (p.Val587=)
c.1066G= (p.Val356=)
c.1432G= (p.Val478=)
n.236G=
c.*927G= (n.*927G=)
c.1813G= (p.Val605=)
n.154G=
c.344G=
c.1514G= (p.Gly505=)
c.1924G= (p.Val642=)
6g.30897014G>TCA363137112DDR1c.1870G>T (p.Val624Leu)
c.1759G>T (p.Val587Leu)
c.1066G>T (p.Val356Leu)
c.1432G>T (p.Val478Leu)
n.236G>T
c.*927G>T (n.*927G>T)
c.1813G>T (p.Val605Leu)
n.154G>T
c.344G>T
c.1514G>T (p.Gly505Val)
c.1924G>T (p.Val642Leu)
dbSNP gnomAD v3 gnomAD v4
6g.30897015T>ACA363137117DDR1c.1871T>A (p.Val624Glu)
c.1760T>A (p.Val587Glu)
c.1067T>A (p.Val356Glu)
c.1433T>A (p.Val478Glu)
n.237T>A
c.*928T>A (n.*928T>A)
c.1814T>A (p.Val605Glu)
n.155T>A
c.345T>A
c.1515T>A (p.Gly505=)
c.1925T>A (p.Val642Glu)
6g.30897015T>CCA363137119DDR1c.1871T>C (p.Val624Ala)
c.1760T>C (p.Val587Ala)
c.1067T>C (p.Val356Ala)
c.1433T>C (p.Val478Ala)
n.237T>C
c.*928T>C (n.*928T>C)
c.1814T>C (p.Val605Ala)
n.155T>C
c.345T>C
c.1515T>C (p.Gly505=)
c.1925T>C (p.Val642Ala)
6g.30897015T>GCA363137121DDR1c.1871T>G (p.Val624Gly)
c.1760T>G (p.Val587Gly)
c.1067T>G (p.Val356Gly)
c.1433T>G (p.Val478Gly)
n.237T>G
c.*928T>G (n.*928T>G)
c.1814T>G (p.Val605Gly)
n.155T>G
c.345T>G
c.1515T>G (p.Gly505=)
c.1925T>G (p.Val642Gly)
6g.30897016G>ACA449778320DDR1c.1872G>A (p.Val624=)
c.1761G>A (p.Val587=)
c.1068G>A (p.Val356=)
c.1434G>A (p.Val478=)
n.238G>A
c.*929G>A (n.*929G>A)
c.1815G>A (p.Val605=)
n.156G>A
c.346G>A
c.1516G>A (p.Ala506Thr)
c.1926G>A (p.Val642=)
dbSNP gnomAD v3 gnomAD v4
6g.30897016G>CCA449778319DDR1c.1872G>C (p.Val624=)
c.1761G>C (p.Val587=)
c.1068G>C (p.Val356=)
c.1434G>C (p.Val478=)
n.238G>C
c.*929G>C (n.*929G>C)
c.1815G>C (p.Val605=)
n.156G>C
c.346G>C
c.1516G>C (p.Ala506Pro)
c.1926G>C (p.Val642=)
6g.30897016G=CA1618917616DDR1c.1872G= (p.Val624=)
c.1761G= (p.Val587=)
c.1068G= (p.Val356=)
c.1434G= (p.Val478=)
n.238G=
c.*929G= (n.*929G=)
c.1815G= (p.Val605=)
n.156G=
c.346G=
c.1516G= (p.Ala506=)
c.1926G= (p.Val642=)
6g.30897016G>TCA449778318DDR1c.1872G>T (p.Val624=)
c.1761G>T (p.Val587=)
c.1068G>T (p.Val356=)
c.1434G>T (p.Val478=)
n.238G>T
c.*929G>T (n.*929G>T)
c.1815G>T (p.Val605=)
n.156G>T
c.346G>T
c.1516G>T (p.Ala506Ser)
c.1926G>T (p.Val642=)
6g.30897017C>ACA363137128DDR1c.1873C>A (p.His625Asn)
c.1762C>A (p.His588Asn)
c.1069C>A (p.His357Asn)
c.1435C>A (p.His479Asn)
n.239C>A
c.*930C>A (n.*930C>A)
c.1816C>A (p.His606Asn)
n.157C>A
c.347C>A
c.1517C>A (p.Ala506Glu)
c.1927C>A (p.His643Asn)
6g.30897017C>GCA363137124DDR1c.1873C>G (p.His625Asp)
c.1762C>G (p.His588Asp)
c.1069C>G (p.His357Asp)
c.1435C>G (p.His479Asp)
n.239C>G
c.*930C>G (n.*930C>G)
c.1816C>G (p.His606Asp)
n.157C>G
c.347C>G
c.1517C>G (p.Ala506Gly)
c.1927C>G (p.His643Asp)
6g.30897017C>TCA363137126DDR1c.1873C>T (p.His625Tyr)
c.1762C>T (p.His588Tyr)
c.1069C>T (p.His357Tyr)
c.1435C>T (p.His479Tyr)
n.239C>T
c.*930C>T (n.*930C>T)
c.1816C>T (p.His606Tyr)
n.157C>T
c.347C>T
c.1517C>T (p.Ala506Val)
c.1927C>T (p.His643Tyr)
gnomAD v4
6g.30897018A=CA1618917617DDR1c.1874A= (p.His625=)
c.1763A= (p.His588=)
c.1070A= (p.His357=)
c.1436A= (p.His479=)
n.240A=
c.*931A= (n.*931A=)
c.1817A= (p.His606=)
n.158A=
c.348A=
c.1518A= (p.Ala506=)
c.1928A= (p.His643=)
6g.30897018A>CCA363137130DDR1c.1874A>C (p.His625Pro)
c.1763A>C (p.His588Pro)
c.1070A>C (p.His357Pro)
c.1436A>C (p.His479Pro)
n.240A>C
c.*931A>C (n.*931A>C)
c.1817A>C (p.His606Pro)
n.158A>C
c.348A>C
c.1518A>C (p.Ala506=)
c.1928A>C (p.His643Pro)
6g.30897018A>GCA3704724DDR1c.1874A>G (p.His625Arg)
c.1763A>G (p.His588Arg)
c.1070A>G (p.His357Arg)
c.1436A>G (p.His479Arg)
n.240A>G
c.*931A>G (n.*931A>G)
c.1817A>G (p.His606Arg)
n.158A>G
c.348A>G
c.1518A>G (p.Ala506=)
c.1928A>G (p.His643Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897018A>TCA363137133DDR1c.1874A>T (p.His625Leu)
c.1763A>T (p.His588Leu)
c.1070A>T (p.His357Leu)
c.1436A>T (p.His479Leu)
n.240A>T
c.*931A>T (n.*931A>T)
c.1817A>T (p.His606Leu)
n.158A>T
c.348A>T
c.1518A>T (p.Ala506=)
c.1928A>T (p.His643Leu)
6g.30897019C>ACA363137134DDR1c.1875C>A (p.His625Gln)
c.1764C>A (p.His588Gln)
c.1071C>A (p.His357Gln)
c.1437C>A (p.His479Gln)
n.241C>A
c.*932C>A (n.*932C>A)
c.1818C>A (p.His606Gln)
n.159C>A
c.349C>A
c.1519C>A (p.Pro507Thr)
c.1929C>A (p.His643Gln)
COSMIC COSMIC COSMIC COSMIC
6g.30897019C=CA1618917618DDR1c.1875C= (p.His625=)
c.1764C= (p.His588=)
c.1071C= (p.His357=)
c.1437C= (p.His479=)
n.241C=
c.*932C= (n.*932C=)
c.1818C= (p.His606=)
n.159C=
c.349C=
c.1519C= (p.Pro507=)
c.1929C= (p.His643=)
6g.30897019C>GCA363137136DDR1c.1875C>G (p.His625Gln)
c.1764C>G (p.His588Gln)
c.1071C>G (p.His357Gln)
c.1437C>G (p.His479Gln)
n.241C>G
c.*932C>G (n.*932C>G)
c.1818C>G (p.His606Gln)
n.159C>G
c.349C>G
c.1519C>G (p.Pro507Ala)
c.1929C>G (p.His643Gln)
dbSNP
6g.30897019C>TCA449778324DDR1c.1875C>T (p.His625=)
c.1764C>T (p.His588=)
c.1071C>T (p.His357=)
c.1437C>T (p.His479=)
n.241C>T
c.*932C>T (n.*932C>T)
c.1818C>T (p.His606=)
n.159C>T
c.349C>T
c.1519C>T (p.Pro507Ser)
c.1929C>T (p.His643=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30897020C>ACA363137139DDR1c.1876C>A (p.Leu626Met)
c.1765C>A (p.Leu589Met)
c.1072C>A (p.Leu358Met)
c.1438C>A (p.Leu480Met)
n.242C>A
c.*933C>A (n.*933C>A)
c.1819C>A (p.Leu607Met)
n.160C>A
c.350C>A
c.1520C>A (p.Pro507His)
c.1930C>A (p.Leu644Met)
6g.30897020C=CA1618917619DDR1c.1876C= (p.Leu626=)
c.1765C= (p.Leu589=)
c.1072C= (p.Leu358=)
c.1438C= (p.Leu480=)
n.242C=
c.*933C= (n.*933C=)
c.1819C= (p.Leu607=)
n.160C=
c.350C=
c.1520C= (p.Pro507=)
c.1930C= (p.Leu644=)
6g.30897020C>GCA3704725DDR1c.1876C>G (p.Leu626Val)
c.1765C>G (p.Leu589Val)
c.1072C>G (p.Leu358Val)
c.1438C>G (p.Leu480Val)
n.242C>G
c.*933C>G (n.*933C>G)
c.1819C>G (p.Leu607Val)
n.160C>G
c.350C>G
c.1520C>G (p.Pro507Arg)
c.1930C>G (p.Leu644Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897020C>TCA449778330DDR1c.1876C>T (p.Leu626=)
c.1765C>T (p.Leu589=)
c.1072C>T (p.Leu358=)
c.1438C>T (p.Leu480=)
n.242C>T
c.*933C>T (n.*933C>T)
c.1819C>T (p.Leu607=)
n.160C>T
c.350C>T
c.1520C>T (p.Pro507Leu)
c.1930C>T (p.Leu644=)
dbSNP
6g.30897021T>ACA363137145DDR1c.1877T>A (p.Leu626Gln)
c.1766T>A (p.Leu589Gln)
c.1073T>A (p.Leu358Gln)
c.1439T>A (p.Leu480Gln)
n.243T>A
c.*934T>A (n.*934T>A)
c.1820T>A (p.Leu607Gln)
n.161T>A
c.351T>A
c.1521T>A (p.Pro507=)
c.1931T>A (p.Leu644Gln)
6g.30897021T>CCA363137147DDR1c.1877T>C (p.Leu626Pro)
c.1766T>C (p.Leu589Pro)
c.1073T>C (p.Leu358Pro)
c.1439T>C (p.Leu480Pro)
n.243T>C
c.*934T>C (n.*934T>C)
c.1820T>C (p.Leu607Pro)
n.161T>C
c.351T>C
c.1521T>C (p.Pro507=)
c.1931T>C (p.Leu644Pro)
6g.30897021T>GCA363137150DDR1c.1877T>G (p.Leu626Arg)
c.1766T>G (p.Leu589Arg)
c.1073T>G (p.Leu358Arg)
c.1439T>G (p.Leu480Arg)
n.243T>G
c.*934T>G (n.*934T>G)
c.1820T>G (p.Leu607Arg)
n.161T>G
c.351T>G
c.1521T>G (p.Pro507=)
c.1931T>G (p.Leu644Arg)
6g.30897022G>ACA449778335DDR1c.1878G>A (p.Leu626=)
c.1767G>A (p.Leu589=)
c.1074G>A (p.Leu358=)
c.1440G>A (p.Leu480=)
n.244G>A
c.*935G>A (n.*935G>A)
c.1821G>A (p.Leu607=)
n.162G>A
c.352G>A
c.1522G>A (p.Val508Met)
c.1932G>A (p.Leu644=)
COSMIC COSMIC COSMIC
6g.30897022G>CCA449778336DDR1c.1878G>C (p.Leu626=)
c.1767G>C (p.Leu589=)
c.1074G>C (p.Leu358=)
c.1440G>C (p.Leu480=)
n.244G>C
c.*935G>C (n.*935G>C)
c.1821G>C (p.Leu607=)
n.162G>C
c.352G>C
c.1522G>C (p.Val508Leu)
c.1932G>C (p.Leu644=)
6g.30897022G>TCA449778337DDR1c.1878G>T (p.Leu626=)
c.1767G>T (p.Leu589=)
c.1074G>T (p.Leu358=)
c.1440G>T (p.Leu480=)
n.244G>T
c.*935G>T (n.*935G>T)
c.1821G>T (p.Leu607=)
n.162G>T
c.352G>T
c.1522G>T (p.Val508Leu)
c.1932G>T (p.Leu644=)
6g.30897023T>ACA363137154DDR1c.1879T>A (p.Cys627Ser)
c.1768T>A (p.Cys590Ser)
c.1075T>A (p.Cys359Ser)
c.1441T>A (p.Cys481Ser)
n.245T>A
c.*936T>A (n.*936T>A)
c.1822T>A (p.Cys608Ser)
n.163T>A
c.353T>A
c.1523T>A (p.Val508Glu)
c.1933T>A (p.Cys645Ser)
6g.30897023T>CCA363137157DDR1c.1879T>C (p.Cys627Arg)
c.1768T>C (p.Cys590Arg)
c.1075T>C (p.Cys359Arg)
c.1441T>C (p.Cys481Arg)
n.245T>C
c.*936T>C (n.*936T>C)
c.1822T>C (p.Cys608Arg)
n.163T>C
c.353T>C
c.1523T>C (p.Val508Ala)
c.1933T>C (p.Cys645Arg)
6g.30897023T>GCA3704726DDR1c.1879T>G (p.Cys627Gly)
c.1768T>G (p.Cys590Gly)
c.1075T>G (p.Cys359Gly)
c.1441T>G (p.Cys481Gly)
n.245T>G
c.*936T>G (n.*936T>G)
c.1822T>G (p.Cys608Gly)
n.163T>G
c.353T>G
c.1523T>G (p.Val508Gly)
c.1933T>G (p.Cys645Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897023T=CA1618917620DDR1c.1879T= (p.Cys627=)
c.1768T= (p.Cys590=)
c.1075T= (p.Cys359=)
c.1441T= (p.Cys481=)
n.245T=
c.*936T= (n.*936T=)
c.1822T= (p.Cys608=)
n.163T=
c.353T=
c.1523T= (p.Val508=)
c.1933T= (p.Cys645=)
6g.30897024G>ACA363137166DDR1c.1880G>A (p.Cys627Tyr)
c.1769G>A (p.Cys590Tyr)
c.1076G>A (p.Cys359Tyr)
c.1442G>A (p.Cys481Tyr)
n.246G>A
c.*937G>A (n.*937G>A)
c.1823G>A (p.Cys608Tyr)
n.164G>A
c.354G>A
c.1524G>A (p.Val508=)
c.1934G>A (p.Cys645Tyr)
6g.30897024G>CCA363137161DDR1c.1880G>C (p.Cys627Ser)
c.1769G>C (p.Cys590Ser)
c.1076G>C (p.Cys359Ser)
c.1442G>C (p.Cys481Ser)
n.246G>C
c.*937G>C (n.*937G>C)
c.1823G>C (p.Cys608Ser)
n.164G>C
c.354G>C
c.1524G>C (p.Val508=)
c.1934G>C (p.Cys645Ser)
6g.30897024G>TCA363137163DDR1c.1880G>T (p.Cys627Phe)
c.1769G>T (p.Cys590Phe)
c.1076G>T (p.Cys359Phe)
c.1442G>T (p.Cys481Phe)
n.246G>T
c.*937G>T (n.*937G>T)
c.1823G>T (p.Cys608Phe)
n.164G>T
c.354G>T
c.1524G>T (p.Val508=)
c.1934G>T (p.Cys645Phe)
6g.30897025T>ACA363137169DDR1c.1881T>A (p.Cys627Ter)
c.1770T>A (p.Cys590Ter)
c.1077T>A (p.Cys359Ter)
c.1443T>A (p.Cys481Ter)
n.247T>A
c.*938T>A (n.*938T>A)
c.1824T>A (p.Cys608Ter)
n.165T>A
c.355T>A
c.1525T>A (p.Ter509Arg)
c.1935T>A (p.Cys645Ter)
6g.30897025T>CCA449778342DDR1c.1881T>C (p.Cys627=)
c.1770T>C (p.Cys590=)
c.1077T>C (p.Cys359=)
c.1443T>C (p.Cys481=)
n.247T>C
c.*938T>C (n.*938T>C)
c.1824T>C (p.Cys608=)
n.165T>C
c.355T>C
c.1525T>C (p.Ter509Arg)
c.1935T>C (p.Cys645=)
6g.30897025T>GCA363137172DDR1c.1881T>G (p.Cys627Trp)
c.1770T>G (p.Cys590Trp)
c.1077T>G (p.Cys359Trp)
c.1443T>G (p.Cys481Trp)
n.247T>G
c.*938T>G (n.*938T>G)
c.1824T>G (p.Cys608Trp)
n.165T>G
c.355T>G
c.1525T>G (p.Ter509Gly)
c.1935T>G (p.Cys645Trp)
6g.30897026G>ACA363137175DDR1c.1882G>A (p.Glu628Lys)
c.1771G>A (p.Glu591Lys)
c.1078G>A (p.Glu360Lys)
c.1444G>A (p.Glu482Lys)
n.248G>A
c.*939G>A (n.*939G>A)
c.1825G>A (p.Glu609Lys)
n.166G>A
c.356G>A
c.1526G>A (p.Ter509=)
c.1936G>A (p.Glu646Lys)
6g.30897026G>CCA363137176DDR1c.1882G>C (p.Glu628Gln)
c.1771G>C (p.Glu591Gln)
c.1078G>C (p.Glu360Gln)
c.1444G>C (p.Glu482Gln)
n.248G>C
c.*939G>C (n.*939G>C)
c.1825G>C (p.Glu609Gln)
n.166G>C
c.356G>C
c.1526G>C (p.Ter509Ser)
c.1936G>C (p.Glu646Gln)
6g.30897026G>TCA363137179DDR1c.1882G>T (p.Glu628Ter)
c.1771G>T (p.Glu591Ter)
c.1078G>T (p.Glu360Ter)
c.1444G>T (p.Glu482Ter)
n.248G>T
c.*939G>T (n.*939G>T)
c.1825G>T (p.Glu609Ter)
n.166G>T
c.356G>T
c.1526G>T (p.Ter509Leu)
c.1936G>T (p.Glu646Ter)
6g.30897027A>CCA363137183DDR1c.1883A>C (p.Glu628Ala)
c.1772A>C (p.Glu591Ala)
c.1079A>C (p.Glu360Ala)
c.1445A>C (p.Glu482Ala)
n.249A>C
c.*940A>C (n.*940A>C)
c.1826A>C (p.Glu609Ala)
n.167A>C
c.357A>C
c.1527A>C (p.Ter509Cys)
c.1937A>C (p.Glu646Ala)
6g.30897027A>GCA363137185DDR1c.1883A>G (p.Glu628Gly)
c.1772A>G (p.Glu591Gly)
c.1079A>G (p.Glu360Gly)
c.1445A>G (p.Glu482Gly)
n.249A>G
c.*940A>G (n.*940A>G)
c.1826A>G (p.Glu609Gly)
n.167A>G
c.357A>G
c.1527A>G (p.Ter509Trp)
c.1937A>G (p.Glu646Gly)
dbSNP
6g.30897027A>TCA363137188DDR1c.1883A>T (p.Glu628Val)
c.1772A>T (p.Glu591Val)
c.1079A>T (p.Glu360Val)
c.1445A>T (p.Glu482Val)
n.249A>T
c.*940A>T (n.*940A>T)
c.1826A>T (p.Glu609Val)
n.167A>T
c.357A>T
c.1527A>T (p.Ter509Cys)
c.1937A>T (p.Glu646Val)
6g.30897028G>ACA449778346DDR1c.1884G>A (p.Glu628=)
c.1773G>A (p.Glu591=)
c.1080G>A (p.Glu360=)
c.1446G>A (p.Glu482=)
n.250G>A
c.*941G>A (n.*941G>A)
c.1827G>A (p.Glu609=)
n.168G>A
c.358G>A
c.*1G>A (n.*1G>A)
c.1938G>A (p.Glu646=)
dbSNP gnomAD v4
6g.30897028G>CCA363137191DDR1c.1884G>C (p.Glu628Asp)
c.1773G>C (p.Glu591Asp)
c.1080G>C (p.Glu360Asp)
c.1446G>C (p.Glu482Asp)
n.250G>C
c.*941G>C (n.*941G>C)
c.1827G>C (p.Glu609Asp)
n.168G>C
c.358G>C
c.*1G>C (n.*1G>C)
c.1938G>C (p.Glu646Asp)
6g.30897028G=CA1618917621DDR1c.1884G= (p.Glu628=)
c.1773G= (p.Glu591=)
c.1080G= (p.Glu360=)
c.1446G= (p.Glu482=)
n.250G=
c.*941G= (n.*941G=)
c.1827G= (p.Glu609=)
n.168G=
c.358G=
c.*1G= (n.*1G=)
c.1938G= (p.Glu646=)
6g.30897028G>TCA363137194DDR1c.1884G>T (p.Glu628Asp)
c.1773G>T (p.Glu591Asp)
c.1080G>T (p.Glu360Asp)
c.1446G>T (p.Glu482Asp)
n.250G>T
c.*941G>T (n.*941G>T)
c.1827G>T (p.Glu609Asp)
n.168G>T
c.358G>T
c.*1G>T (n.*1G>T)
c.1938G>T (p.Glu646Asp)
6g.30897029G>ACA363137197DDR1c.1885G>A (p.Val629Ile)
c.1774G>A (p.Val592Ile)
c.1081G>A (p.Val361Ile)
c.1447G>A (p.Val483Ile)
n.251G>A
c.*942G>A (n.*942G>A)
c.1828G>A (p.Val610Ile)
n.169G>A
c.359G>A
c.*2G>A (n.*2G>A)
c.1939G>A (p.Val647Ile)
gnomAD v4
6g.30897029G>CCA363137199DDR1c.1885G>C (p.Val629Leu)
c.1774G>C (p.Val592Leu)
c.1081G>C (p.Val361Leu)
c.1447G>C (p.Val483Leu)
n.251G>C
c.*942G>C (n.*942G>C)
c.1828G>C (p.Val610Leu)
n.169G>C
c.359G>C
c.*2G>C (n.*2G>C)
c.1939G>C (p.Val647Leu)
6g.30897029G>TCA363137201DDR1c.1885G>T (p.Val629Phe)
c.1774G>T (p.Val592Phe)
c.1081G>T (p.Val361Phe)
c.1447G>T (p.Val483Phe)
n.251G>T
c.*942G>T (n.*942G>T)
c.1828G>T (p.Val610Phe)
n.169G>T
c.359G>T
c.*2G>T (n.*2G>T)
c.1939G>T (p.Val647Phe)
6g.30897030T>ACA363137209DDR1c.1886T>A (p.Val629Asp)
c.1775T>A (p.Val592Asp)
c.1082T>A (p.Val361Asp)
c.1448T>A (p.Val483Asp)
n.252T>A
c.*943T>A (n.*943T>A)
c.1829T>A (p.Val610Asp)
n.170T>A
c.360T>A
c.*3T>A (n.*3T>A)
c.1940T>A (p.Val647Asp)
dbSNP
6g.30897030T>CCA363137207DDR1c.1886T>C (p.Val629Ala)
c.1775T>C (p.Val592Ala)
c.1082T>C (p.Val361Ala)
c.1448T>C (p.Val483Ala)
n.252T>C
c.*943T>C (n.*943T>C)
c.1829T>C (p.Val610Ala)
n.170T>C
c.360T>C
c.*3T>C (n.*3T>C)
c.1940T>C (p.Val647Ala)
6g.30897030T>GCA363137205DDR1c.1886T>G (p.Val629Gly)
c.1775T>G (p.Val592Gly)
c.1082T>G (p.Val361Gly)
c.1448T>G (p.Val483Gly)
n.252T>G
c.*943T>G (n.*943T>G)
c.1829T>G (p.Val610Gly)
n.170T>G
c.360T>G
c.*3T>G (n.*3T>G)
c.1940T>G (p.Val647Gly)
6g.30897031C>ACA449778351DDR1c.1887C>A (p.Val629=)
c.1776C>A (p.Val592=)
c.1083C>A (p.Val361=)
c.1449C>A (p.Val483=)
n.253C>A
c.*944C>A (n.*944C>A)
c.1830C>A (p.Val610=)
n.171C>A
c.361C>A
c.*4C>A (n.*4C>A)
c.1941C>A (p.Val647=)
dbSNP
6g.30897031C=CA1618917622DDR1c.1887C= (p.Val629=)
c.1776C= (p.Val592=)
c.1083C= (p.Val361=)
c.1449C= (p.Val483=)
n.253C=
c.*944C= (n.*944C=)
c.1830C= (p.Val610=)
n.171C=
c.361C=
c.*4C= (n.*4C=)
c.1941C= (p.Val647=)
6g.30897031C>GCA3704728DDR1c.1887C>G (p.Val629=)
c.1776C>G (p.Val592=)
c.1083C>G (p.Val361=)
c.1449C>G (p.Val483=)
n.253C>G
c.*944C>G (n.*944C>G)
c.1830C>G (p.Val610=)
n.171C>G
c.361C>G
c.*4C>G (n.*4C>G)
c.1941C>G (p.Val647=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897031C>TCA3704727DDR1c.1887C>T (p.Val629=)
c.1776C>T (p.Val592=)
c.1083C>T (p.Val361=)
c.1449C>T (p.Val483=)
n.253C>T
c.*944C>T (n.*944C>T)
c.1830C>T (p.Val610=)
n.171C>T
c.361C>T
c.*4C>T (n.*4C>T)
c.1941C>T (p.Val647=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897032G>ACA3704730DDR1c.1888G>A (p.Asp630Asn)
c.1777G>A (p.Asp593Asn)
c.1084G>A (p.Asp362Asn)
c.1450G>A (p.Asp484Asn)
n.254G>A
c.*945G>A (n.*945G>A)
c.1831G>A (p.Asp611Asn)
n.172G>A
c.362G>A
c.*5G>A (n.*5G>A)
c.1942G>A (p.Asp648Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897032G>CCA363137215DDR1c.1888G>C (p.Asp630His)
c.1777G>C (p.Asp593His)
c.1084G>C (p.Asp362His)
c.1450G>C (p.Asp484His)
n.254G>C
c.*945G>C (n.*945G>C)
c.1831G>C (p.Asp611His)
n.172G>C
c.362G>C
c.*5G>C (n.*5G>C)
c.1942G>C (p.Asp648His)
6g.30897032G=CA1618917623DDR1c.1888G= (p.Asp630=)
c.1777G= (p.Asp593=)
c.1084G= (p.Asp362=)
c.1450G= (p.Asp484=)
n.254G=
c.*945G= (n.*945G=)
c.1831G= (p.Asp611=)
n.172G=
c.362G=
c.*5G= (n.*5G=)
c.1942G= (p.Asp648=)
6g.30897032G>TCA3704729DDR1c.1888G>T (p.Asp630Tyr)
c.1777G>T (p.Asp593Tyr)
c.1084G>T (p.Asp362Tyr)
c.1450G>T (p.Asp484Tyr)
n.254G>T
c.*945G>T (n.*945G>T)
c.1831G>T (p.Asp611Tyr)
n.172G>T
c.362G>T
c.*5G>T (n.*5G>T)
c.1942G>T (p.Asp648Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.30897033A>CCA363137216DDR1c.1889A>C (p.Asp630Ala)
c.1778A>C (p.Asp593Ala)
c.1085A>C (p.Asp362Ala)
c.1451A>C (p.Asp484Ala)
n.255A>C
c.*946A>C (n.*946A>C)
c.1832A>C (p.Asp611Ala)
n.173A>C
c.363A>C
c.*6A>C (n.*6A>C)
c.1943A>C (p.Asp648Ala)
6g.30897033A>GCA363137217DDR1c.1889A>G (p.Asp630Gly)
c.1778A>G (p.Asp593Gly)
c.1085A>G (p.Asp362Gly)
c.1451A>G (p.Asp484Gly)
n.255A>G
c.*946A>G (n.*946A>G)
c.1832A>G (p.Asp611Gly)
n.173A>G
c.363A>G
c.*6A>G (n.*6A>G)
c.1943A>G (p.Asp648Gly)
6g.30897033A>TCA363137218DDR1c.1889A>T (p.Asp630Val)
c.1778A>T (p.Asp593Val)
c.1085A>T (p.Asp362Val)
c.1451A>T (p.Asp484Val)
n.255A>T
c.*946A>T (n.*946A>T)
c.1832A>T (p.Asp611Val)
n.173A>T
c.363A>T
c.*6A>T (n.*6A>T)
c.1943A>T (p.Asp648Val)
6g.30897034C>ACA363137219DDR1c.1890C>A (p.Asp630Glu)
c.1779C>A (p.Asp593Glu)
c.1086C>A (p.Asp362Glu)
c.1452C>A (p.Asp484Glu)
n.256C>A
c.*947C>A (n.*947C>A)
c.1833C>A (p.Asp611Glu)
n.174C>A
c.364C>A
c.*7C>A (n.*7C>A)
c.1944C>A (p.Asp648Glu)
6g.30897034C>GCA363137220DDR1c.1890C>G (p.Asp630Glu)
c.1779C>G (p.Asp593Glu)
c.1086C>G (p.Asp362Glu)
c.1452C>G (p.Asp484Glu)
n.256C>G
c.*947C>G (n.*947C>G)
c.1833C>G (p.Asp611Glu)
n.174C>G
c.364C>G
c.*7C>G (n.*7C>G)
c.1944C>G (p.Asp648Glu)
6g.30897034C>TCA449778355DDR1c.1890C>T (p.Asp630=)
c.1779C>T (p.Asp593=)
c.1086C>T (p.Asp362=)
c.1452C>T (p.Asp484=)
n.256C>T
c.*947C>T (n.*947C>T)
c.1833C>T (p.Asp611=)
n.174C>T
c.364C>T
c.*7C>T (n.*7C>T)
c.1944C>T (p.Asp648=)
dbSNP
6g.30897035A=CA1618917624DDR1c.1891A= (p.Ser631=)
c.1780A= (p.Ser594=)
c.1087A= (p.Ser363=)
c.1453A= (p.Ser485=)
n.257A=
c.*948A= (n.*948A=)
c.1834A= (p.Ser612=)
n.175A=
c.365A=
c.*8A= (n.*8A=)
c.1945A= (p.Ser649=)
6g.30897035A>CCA363137222DDR1c.1891A>C (p.Ser631Arg)
c.1780A>C (p.Ser594Arg)
c.1087A>C (p.Ser363Arg)
c.1453A>C (p.Ser485Arg)
n.257A>C
c.*948A>C (n.*948A>C)
c.1834A>C (p.Ser612Arg)
n.175A>C
c.365A>C
c.*8A>C (n.*8A>C)
c.1945A>C (p.Ser649Arg)
6g.30897035A>GCA363137225DDR1c.1891A>G (p.Ser631Gly)
c.1780A>G (p.Ser594Gly)
c.1087A>G (p.Ser363Gly)
c.1453A>G (p.Ser485Gly)
n.257A>G
c.*948A>G (n.*948A>G)
c.1834A>G (p.Ser612Gly)
n.175A>G
c.365A>G
c.*8A>G (n.*8A>G)
c.1945A>G (p.Ser649Gly)
dbSNP gnomAD v2 gnomAD v4
6g.30897035A>TCA363137227DDR1c.1891A>T (p.Ser631Cys)
c.1780A>T (p.Ser594Cys)
c.1087A>T (p.Ser363Cys)
c.1453A>T (p.Ser485Cys)
n.257A>T
c.*948A>T (n.*948A>T)
c.1834A>T (p.Ser612Cys)
n.175A>T
c.365A>T
c.*8A>T (n.*8A>T)
c.1945A>T (p.Ser649Cys)
6g.30897036G>ACA363137235DDR1c.1892G>A (p.Ser631Asn)
c.1781G>A (p.Ser594Asn)
c.1088G>A (p.Ser363Asn)
c.1454G>A (p.Ser485Asn)
n.258G>A
c.*949G>A (n.*949G>A)
c.1835G>A (p.Ser612Asn)
n.176G>A
c.366G>A
c.*9G>A (n.*9G>A)
c.1946G>A (p.Ser649Asn)
dbSNP
6g.30897036G>CCA363137232DDR1c.1892G>C (p.Ser631Thr)
c.1781G>C (p.Ser594Thr)
c.1088G>C (p.Ser363Thr)
c.1454G>C (p.Ser485Thr)
n.258G>C
c.*949G>C (n.*949G>C)
c.1835G>C (p.Ser612Thr)
n.176G>C
c.366G>C
c.*9G>C (n.*9G>C)
c.1946G>C (p.Ser649Thr)
6g.30897036G>TCA363137230DDR1c.1892G>T (p.Ser631Ile)
c.1781G>T (p.Ser594Ile)
c.1088G>T (p.Ser363Ile)
c.1454G>T (p.Ser485Ile)
n.258G>T
c.*949G>T (n.*949G>T)
c.1835G>T (p.Ser612Ile)
n.176G>T
c.366G>T
c.*9G>T (n.*9G>T)
c.1946G>T (p.Ser649Ile)
6g.30897037C>ACA363137237DDR1c.1893C>A (p.Ser631Arg)
c.1782C>A (p.Ser594Arg)
c.1089C>A (p.Ser363Arg)
c.1455C>A (p.Ser485Arg)
n.259C>A
c.*950C>A (n.*950C>A)
c.1836C>A (p.Ser612Arg)
n.177C>A
c.367C>A
c.*10C>A (n.*10C>A)
c.1947C>A (p.Ser649Arg)
6g.30897037C>GCA363137239DDR1c.1893C>G (p.Ser631Arg)
c.1782C>G (p.Ser594Arg)
c.1089C>G (p.Ser363Arg)
c.1455C>G (p.Ser485Arg)
n.259C>G
c.*950C>G (n.*950C>G)
c.1836C>G (p.Ser612Arg)
n.177C>G
c.367C>G
c.*10C>G (n.*10C>G)
c.1947C>G (p.Ser649Arg)
dbSNP
6g.30897037C>TCA449778364DDR1c.1893C>T (p.Ser631=)
c.1782C>T (p.Ser594=)
c.1089C>T (p.Ser363=)
c.1455C>T (p.Ser485=)
n.259C>T
c.*950C>T (n.*950C>T)
c.1836C>T (p.Ser612=)
n.177C>T
c.367C>T
c.*10C>T (n.*10C>T)
c.1947C>T (p.Ser649=)
dbSNP gnomAD v4
6g.30897038C>ACA363137243DDR1c.1894C>A (p.Pro632Thr)
c.1783C>A (p.Pro595Thr)
c.1090C>A (p.Pro364Thr)
c.1456C>A (p.Pro486Thr)
n.260C>A
c.*951C>A (n.*951C>A)
c.1837C>A (p.Pro613Thr)
n.178C>A
c.368C>A
c.*11C>A (n.*11C>A)
c.1948C>A (p.Pro650Thr)
gnomAD v4
6g.30897038C>GCA363137246DDR1c.1894C>G (p.Pro632Ala)
c.1783C>G (p.Pro595Ala)
c.1090C>G (p.Pro364Ala)
c.1456C>G (p.Pro486Ala)
n.260C>G
c.*951C>G (n.*951C>G)
c.1837C>G (p.Pro613Ala)
n.178C>G
c.368C>G
c.*11C>G (n.*11C>G)
c.1948C>G (p.Pro650Ala)
6g.30897038C>TCA363137248DDR1c.1894C>T (p.Pro632Ser)
c.1783C>T (p.Pro595Ser)
c.1090C>T (p.Pro364Ser)
c.1456C>T (p.Pro486Ser)
n.260C>T
c.*951C>T (n.*951C>T)
c.1837C>T (p.Pro613Ser)
n.178C>T
c.368C>T
c.*11C>T (n.*11C>T)
c.1948C>T (p.Pro650Ser)
6g.30897039C>ACA363137251DDR1c.1895C>A (p.Pro632His)
c.1784C>A (p.Pro595His)
c.1091C>A (p.Pro364His)
c.1457C>A (p.Pro486His)
n.261C>A
c.*952C>A (n.*952C>A)
c.1838C>A (p.Pro613His)
n.179C>A
c.369C>A
c.*12C>A (n.*12C>A)
c.1949C>A (p.Pro650His)
6g.30897039C>GCA363137253DDR1c.1895C>G (p.Pro632Arg)
c.1784C>G (p.Pro595Arg)
c.1091C>G (p.Pro364Arg)
c.1457C>G (p.Pro486Arg)
n.261C>G
c.*952C>G (n.*952C>G)
c.1838C>G (p.Pro613Arg)
n.179C>G
c.369C>G
c.*12C>G (n.*12C>G)
c.1949C>G (p.Pro650Arg)
6g.30897039C>TCA363137256DDR1c.1895C>T (p.Pro632Leu)
c.1784C>T (p.Pro595Leu)
c.1091C>T (p.Pro364Leu)
c.1457C>T (p.Pro486Leu)
n.261C>T
c.*952C>T (n.*952C>T)
c.1838C>T (p.Pro613Leu)
n.179C>T
c.369C>T
c.*12C>T (n.*12C>T)
c.1949C>T (p.Pro650Leu)
dbSNP
6g.30897040T>ACA449778370DDR1c.1896T>A (p.Pro632=)
c.1785T>A (p.Pro595=)
c.1092T>A (p.Pro364=)
c.1458T>A (p.Pro486=)
n.262T>A
c.*953T>A (n.*953T>A)
c.1839T>A (p.Pro613=)
n.180T>A
c.370T>A
c.*13T>A (n.*13T>A)
c.1950T>A (p.Pro650=)
6g.30897040T>CCA449778372DDR1c.1896T>C (p.Pro632=)
c.1785T>C (p.Pro595=)
c.1092T>C (p.Pro364=)
c.1458T>C (p.Pro486=)
n.262T>C
c.*953T>C (n.*953T>C)
c.1839T>C (p.Pro613=)
n.180T>C
c.370T>C
c.*13T>C (n.*13T>C)
c.1950T>C (p.Pro650=)
6g.30897040T>GCA449778374DDR1c.1896T>G (p.Pro632=)
c.1785T>G (p.Pro595=)
c.1092T>G (p.Pro364=)
c.1458T>G (p.Pro486=)
n.262T>G
c.*953T>G (n.*953T>G)
c.1839T>G (p.Pro613=)
n.180T>G
c.370T>G
c.*13T>G (n.*13T>G)
c.1950T>G (p.Pro650=)
6g.30897041C>ACA363137259DDR1c.1897C>A (p.Gln633Lys)
c.1786C>A (p.Gln596Lys)
c.1093C>A (p.Gln365Lys)
c.1459C>A (p.Gln487Lys)
n.263C>A
c.*954C>A (n.*954C>A)
c.1840C>A (p.Gln614Lys)
n.181C>A
c.371C>A
c.*14C>A (n.*14C>A)
c.1951C>A (p.Gln651Lys)
6g.30897041C>GCA363137261DDR1c.1897C>G (p.Gln633Glu)
c.1786C>G (p.Gln596Glu)
c.1093C>G (p.Gln365Glu)
c.1459C>G (p.Gln487Glu)
n.263C>G
c.*954C>G (n.*954C>G)
c.1840C>G (p.Gln614Glu)
n.181C>G
c.371C>G
c.*14C>G (n.*14C>G)
c.1951C>G (p.Gln651Glu)
gnomAD v4
6g.30897041C>TCA363137264DDR1c.1897C>T (p.Gln633Ter)
c.1786C>T (p.Gln596Ter)
c.1093C>T (p.Gln365Ter)
c.1459C>T (p.Gln487Ter)
n.263C>T
c.*954C>T (n.*954C>T)
c.1840C>T (p.Gln614Ter)
n.181C>T
c.371C>T
c.*14C>T (n.*14C>T)
c.1951C>T (p.Gln651Ter)
6g.30897042A=CA1618917625DDR1c.1898A= (p.Gln633=)
c.1787A= (p.Gln596=)
c.1094A= (p.Gln365=)
c.1460A= (p.Gln487=)
n.264A=
c.*955A= (n.*955A=)
c.1841A= (p.Gln614=)
n.182A=
c.372A=
c.*15A= (n.*15A=)
c.1952A= (p.Gln651=)
6g.30897042A>CCA363137268DDR1c.1898A>C (p.Gln633Pro)
c.1787A>C (p.Gln596Pro)
c.1094A>C (p.Gln365Pro)
c.1460A>C (p.Gln487Pro)
n.264A>C
c.*955A>C (n.*955A>C)
c.1841A>C (p.Gln614Pro)
n.182A>C
c.372A>C
c.*15A>C (n.*15A>C)
c.1952A>C (p.Gln651Pro)
6g.30897042A>GCA363137270DDR1c.1898A>G (p.Gln633Arg)
c.1787A>G (p.Gln596Arg)
c.1094A>G (p.Gln365Arg)
c.1460A>G (p.Gln487Arg)
n.264A>G
c.*955A>G (n.*955A>G)
c.1841A>G (p.Gln614Arg)
n.182A>G
c.372A>G
c.*15A>G (n.*15A>G)
c.1952A>G (p.Gln651Arg)
6g.30897042A>TCA363137272DDR1c.1898A>T (p.Gln633Leu)
c.1787A>T (p.Gln596Leu)
c.1094A>T (p.Gln365Leu)
c.1460A>T (p.Gln487Leu)
n.264A>T
c.*955A>T (n.*955A>T)
c.1841A>T (p.Gln614Leu)
n.182A>T
c.372A>T
c.*15A>T (n.*15A>T)
c.1952A>T (p.Gln651Leu)
dbSNP
6g.30897043A=CA1618917626DDR1c.1899A= (p.Gln633=)
c.1788A= (p.Gln596=)
c.1095A= (p.Gln365=)
c.1461A= (p.Gln487=)
n.265A=
c.*956A= (n.*956A=)
c.1842A= (p.Gln614=)
n.183A=
c.373A=
c.*16A= (n.*16A=)
c.1953A= (p.Gln651=)
6g.30897043A>CCA363137277DDR1c.1899A>C (p.Gln633His)
c.1788A>C (p.Gln596His)
c.1095A>C (p.Gln365His)
c.1461A>C (p.Gln487His)
n.265A>C
c.*956A>C (n.*956A>C)
c.1842A>C (p.Gln614His)
n.183A>C
c.373A>C
c.*16A>C (n.*16A>C)
c.1953A>C (p.Gln651His)
6g.30897043A>GCA449778383DDR1c.1899A>G (p.Gln633=)
c.1788A>G (p.Gln596=)
c.1095A>G (p.Gln365=)
c.1461A>G (p.Gln487=)
n.265A>G
c.*956A>G (n.*956A>G)
c.1842A>G (p.Gln614=)
n.183A>G
c.373A>G
c.*16A>G (n.*16A>G)
c.1953A>G (p.Gln651=)
dbSNP
6g.30897043A>TCA363137275DDR1c.1899A>T (p.Gln633His)
c.1788A>T (p.Gln596His)
c.1095A>T (p.Gln365His)
c.1461A>T (p.Gln487His)
n.265A>T
c.*956A>T (n.*956A>T)
c.1842A>T (p.Gln614His)
n.183A>T
c.373A>T
c.*16A>T (n.*16A>T)
c.1953A>T (p.Gln651His)
6g.30897044G>ACA363137281DDR1c.1900G>A (p.Asp634Asn)
c.1789G>A (p.Asp597Asn)
c.1096G>A (p.Asp366Asn)
c.1462G>A (p.Asp488Asn)
n.266G>A
c.*957G>A (n.*957G>A)
c.1843G>A (p.Asp615Asn)
n.184G>A
c.374G>A
c.*17G>A (n.*17G>A)
c.1954G>A (p.Asp652Asn)
6g.30897044G>CCA363137283DDR1c.1900G>C (p.Asp634His)
c.1789G>C (p.Asp597His)
c.1096G>C (p.Asp366His)
c.1462G>C (p.Asp488His)
n.266G>C
c.*957G>C (n.*957G>C)
c.1843G>C (p.Asp615His)
n.184G>C
c.374G>C
c.*17G>C (n.*17G>C)
c.1954G>C (p.Asp652His)
gnomAD v4
6g.30897044G>TCA363137285DDR1c.1900G>T (p.Asp634Tyr)
c.1789G>T (p.Asp597Tyr)
c.1096G>T (p.Asp366Tyr)
c.1462G>T (p.Asp488Tyr)
n.266G>T
c.*957G>T (n.*957G>T)
c.1843G>T (p.Asp615Tyr)
n.184G>T
c.374G>T
c.*17G>T (n.*17G>T)
c.1954G>T (p.Asp652Tyr)
6g.30897045A>CCA363137288DDR1c.1901A>C (p.Asp634Ala)
c.1790A>C (p.Asp597Ala)
c.1097A>C (p.Asp366Ala)
c.1463A>C (p.Asp488Ala)
n.267A>C
c.*958A>C (n.*958A>C)
c.1844A>C (p.Asp615Ala)
n.185A>C
c.375A>C
c.*18A>C (n.*18A>C)
c.1955A>C (p.Asp652Ala)
6g.30897045A>GCA363137290DDR1c.1901A>G (p.Asp634Gly)
c.1790A>G (p.Asp597Gly)
c.1097A>G (p.Asp366Gly)
c.1463A>G (p.Asp488Gly)
n.267A>G
c.*958A>G (n.*958A>G)
c.1844A>G (p.Asp615Gly)
n.185A>G
c.375A>G
c.*18A>G (n.*18A>G)
c.1955A>G (p.Asp652Gly)
6g.30897045A>TCA363137292DDR1c.1901A>T (p.Asp634Val)
c.1790A>T (p.Asp597Val)
c.1097A>T (p.Asp366Val)
c.1463A>T (p.Asp488Val)
n.267A>T
c.*958A>T (n.*958A>T)
c.1844A>T (p.Asp615Val)
n.185A>T
c.375A>T
c.*18A>T (n.*18A>T)
c.1955A>T (p.Asp652Val)
6g.30897046T>ACA363137294DDR1c.1902T>A (p.Asp634Glu)
c.1791T>A (p.Asp597Glu)
c.1098T>A (p.Asp366Glu)
c.1464T>A (p.Asp488Glu)
n.268T>A
c.*959T>A (n.*959T>A)
c.1845T>A (p.Asp615Glu)
n.186T>A
c.376T>A
c.*19T>A (n.*19T>A)
c.1956T>A (p.Asp652Glu)
6g.30897046T>CCA449778389DDR1c.1902T>C (p.Asp634=)
c.1791T>C (p.Asp597=)
c.1098T>C (p.Asp366=)
c.1464T>C (p.Asp488=)
n.268T>C
c.*959T>C (n.*959T>C)
c.1845T>C (p.Asp615=)
n.186T>C
c.376T>C
c.*19T>C (n.*19T>C)
c.1956T>C (p.Asp652=)
6g.30897046T>GCA363137296DDR1c.1902T>G (p.Asp634Glu)
c.1791T>G (p.Asp597Glu)
c.1098T>G (p.Asp366Glu)
c.1464T>G (p.Asp488Glu)
n.268T>G
c.*959T>G (n.*959T>G)
c.1845T>G (p.Asp615Glu)
n.186T>G
c.376T>G
c.*19T>G (n.*19T>G)
c.1956T>G (p.Asp652Glu)
6g.30897047C>ACA363137300DDR1c.1903C>A (p.Leu635Met)
c.1792C>A (p.Leu598Met)
c.1099C>A (p.Leu367Met)
c.1465C>A (p.Leu489Met)
c.*960C>A (n.*960C>A)
c.1846C>A (p.Leu616Met)
c.377C>A
c.*20C>A (n.*20C>A)
c.1957C>A (p.Leu653Met)
6g.30897047C=CA1618917627DDR1c.1903C= (p.Leu635=)
c.1792C= (p.Leu598=)
c.1099C= (p.Leu367=)
c.1465C= (p.Leu489=)
c.*960C= (n.*960C=)
c.1846C= (p.Leu616=)
c.377C=
c.*20C= (n.*20C=)
c.1957C= (p.Leu653=)
6g.30897047C>GCA3704731DDR1c.1903C>G (p.Leu635Val)
c.1792C>G (p.Leu598Val)
c.1099C>G (p.Leu367Val)
c.1465C>G (p.Leu489Val)
c.*960C>G (n.*960C>G)
c.1846C>G (p.Leu616Val)
c.377C>G
c.*20C>G (n.*20C>G)
c.1957C>G (p.Leu653Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897047C>TCA449778390DDR1c.1903C>T (p.Leu635=)
c.1792C>T (p.Leu598=)
c.1099C>T (p.Leu367=)
c.1465C>T (p.Leu489=)
c.*960C>T (n.*960C>T)
c.1846C>T (p.Leu616=)
c.377C>T
c.*20C>T (n.*20C>T)
c.1957C>T (p.Leu653=)
6g.30897048T>ACA363137304DDR1c.1904T>A (p.Leu635Gln)
c.1793T>A (p.Leu598Gln)
c.1100T>A (p.Leu367Gln)
c.1466T>A (p.Leu489Gln)
c.*961T>A (n.*961T>A)
c.1847T>A (p.Leu616Gln)
c.378T>A
c.*21T>A (n.*21T>A)
c.1958T>A (p.Leu653Gln)
6g.30897048T>CCA363137306DDR1c.1904T>C (p.Leu635Pro)
c.1793T>C (p.Leu598Pro)
c.1100T>C (p.Leu367Pro)
c.1466T>C (p.Leu489Pro)
c.*961T>C (n.*961T>C)
c.1847T>C (p.Leu616Pro)
c.378T>C
c.*21T>C (n.*21T>C)
c.1958T>C (p.Leu653Pro)
6g.30897048T>GCA363137309DDR1c.1904T>G (p.Leu635Arg)
c.1793T>G (p.Leu598Arg)
c.1100T>G (p.Leu367Arg)
c.1466T>G (p.Leu489Arg)
c.*961T>G (n.*961T>G)
c.1847T>G (p.Leu616Arg)
c.378T>G
c.*21T>G (n.*21T>G)
c.1958T>G (p.Leu653Arg)
6g.30897049G>ACA449778394DDR1c.1905G>A (p.Leu635=)
c.1794G>A (p.Leu598=)
c.1101G>A (p.Leu367=)
c.1467G>A (p.Leu489=)
c.*962G>A (n.*962G>A)
c.1848G>A (p.Leu616=)
c.379G>A
c.*22G>A (n.*22G>A)
c.1959G>A (p.Leu653=)
6g.30897049G>CCA449778395DDR1c.1905G>C (p.Leu635=)
c.1794G>C (p.Leu598=)
c.1101G>C (p.Leu367=)
c.1467G>C (p.Leu489=)
c.*962G>C (n.*962G>C)
c.1848G>C (p.Leu616=)
c.379G>C
c.*22G>C (n.*22G>C)
c.1959G>C (p.Leu653=)
6g.30897049G>TCA449778396DDR1c.1905G>T (p.Leu635=)
c.1794G>T (p.Leu598=)
c.1101G>T (p.Leu367=)
c.1467G>T (p.Leu489=)
c.*962G>T (n.*962G>T)
c.1848G>T (p.Leu616=)
c.379G>T
c.*22G>T (n.*22G>T)
c.1959G>T (p.Leu653=)
6g.30897050G>ACA363137318DDR1c.1906G>A (p.Val636Ile)
c.1795G>A (p.Val599Ile)
c.1102G>A (p.Val368Ile)
c.1468G>A (p.Val490Ile)
c.*963G>A (n.*963G>A)
c.1849G>A (p.Val617Ile)
c.380G>A
c.*23G>A (n.*23G>A)
c.1960G>A (p.Val654Ile)
6g.30897050G>CCA363137315DDR1c.1906G>C (p.Val636Leu)
c.1795G>C (p.Val599Leu)
c.1102G>C (p.Val368Leu)
c.1468G>C (p.Val490Leu)
c.*963G>C (n.*963G>C)
c.1849G>C (p.Val617Leu)
c.380G>C
c.*23G>C (n.*23G>C)
c.1960G>C (p.Val654Leu)
gnomAD v4
6g.30897050G>TCA363137313DDR1c.1906G>T (p.Val636Phe)
c.1795G>T (p.Val599Phe)
c.1102G>T (p.Val368Phe)
c.1468G>T (p.Val490Phe)
c.*963G>T (n.*963G>T)
c.1849G>T (p.Val617Phe)
c.380G>T
c.*23G>T (n.*23G>T)
c.1960G>T (p.Val654Phe)
gnomAD v4
6g.30897051T>ACA363137326DDR1c.1907T>A (p.Val636Asp)
c.1796T>A (p.Val599Asp)
c.1103T>A (p.Val368Asp)
c.1469T>A (p.Val490Asp)
c.*964T>A (n.*964T>A)
c.1850T>A (p.Val617Asp)
c.381T>A
c.*24T>A (n.*24T>A)
c.1961T>A (p.Val654Asp)
6g.30897051T>CCA136787427DDR1c.1907T>C (p.Val636Ala)
c.1796T>C (p.Val599Ala)
c.1103T>C (p.Val368Ala)
c.1469T>C (p.Val490Ala)
c.*964T>C (n.*964T>C)
c.1850T>C (p.Val617Ala)
c.381T>C
c.*24T>C (n.*24T>C)
c.1961T>C (p.Val654Ala)
dbSNP gnomAD v4
6g.30897051T>GCA363137323DDR1c.1907T>G (p.Val636Gly)
c.1796T>G (p.Val599Gly)
c.1103T>G (p.Val368Gly)
c.1469T>G (p.Val490Gly)
c.*964T>G (n.*964T>G)
c.1850T>G (p.Val617Gly)
c.381T>G
c.*24T>G (n.*24T>G)
c.1961T>G (p.Val654Gly)
6g.30897051T=CA1618917628DDR1c.1907T= (p.Val636=)
c.1796T= (p.Val599=)
c.1103T= (p.Val368=)
c.1469T= (p.Val490=)
c.*964T= (n.*964T=)
c.1850T= (p.Val617=)
c.381T=
c.*24T= (n.*24T=)
c.1961T= (p.Val654=)
6g.30897052T>ACA449778399DDR1c.1908T>A (p.Val636=)
c.1797T>A (p.Val599=)
c.1104T>A (p.Val368=)
c.1470T>A (p.Val490=)
c.*965T>A (n.*965T>A)
c.1851T>A (p.Val617=)
c.382T>A
c.*25T>A (n.*25T>A)
c.1962T>A (p.Val654=)
gnomAD v4
6g.30897052T>CCA3704732DDR1c.1908T>C (p.Val636=)
c.1797T>C (p.Val599=)
c.1104T>C (p.Val368=)
c.1470T>C (p.Val490=)
c.*965T>C (n.*965T>C)
c.1851T>C (p.Val617=)
c.382T>C
c.*25T>C (n.*25T>C)
c.1962T>C (p.Val654=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897052T>GCA449778400DDR1c.1908T>G (p.Val636=)
c.1797T>G (p.Val599=)
c.1104T>G (p.Val368=)
c.1470T>G (p.Val490=)
c.*965T>G (n.*965T>G)
c.1851T>G (p.Val617=)
c.382T>G
c.*25T>G (n.*25T>G)
c.1962T>G (p.Val654=)
dbSNP gnomAD v4
6g.30897052T=CA1618917629DDR1c.1908T= (p.Val636=)
c.1797T= (p.Val599=)
c.1104T= (p.Val368=)
c.1470T= (p.Val490=)
c.*965T= (n.*965T=)
c.1851T= (p.Val617=)
c.382T=
c.*25T= (n.*25T=)
c.1962T= (p.Val654=)
6g.30897053A=CA1618917630DDR1c.1909A= (p.Ser637=)
c.1798A= (p.Ser600=)
c.1105A= (p.Ser369=)
c.1471A= (p.Ser491=)
c.*966A= (n.*966A=)
c.1852A= (p.Ser618=)
c.383A=
c.*26A= (n.*26A=)
c.1963A= (p.Ser655=)
6g.30897053A>CCA363137331DDR1c.1909A>C (p.Ser637Arg)
c.1798A>C (p.Ser600Arg)
c.1105A>C (p.Ser369Arg)
c.1471A>C (p.Ser491Arg)
c.*966A>C (n.*966A>C)
c.1852A>C (p.Ser618Arg)
c.383A>C
c.*26A>C (n.*26A>C)
c.1963A>C (p.Ser655Arg)
6g.30897053A>GCA363137334DDR1c.1909A>G (p.Ser637Gly)
c.1798A>G (p.Ser600Gly)
c.1105A>G (p.Ser369Gly)
c.1471A>G (p.Ser491Gly)
c.*966A>G (n.*966A>G)
c.1852A>G (p.Ser618Gly)
c.383A>G
c.*26A>G (n.*26A>G)
c.1963A>G (p.Ser655Gly)
dbSNP
6g.30897053A>TCA363137337DDR1c.1909A>T (p.Ser637Cys)
c.1798A>T (p.Ser600Cys)
c.1105A>T (p.Ser369Cys)
c.1471A>T (p.Ser491Cys)
c.*966A>T (n.*966A>T)
c.1852A>T (p.Ser618Cys)
c.383A>T
c.*26A>T (n.*26A>T)
c.1963A>T (p.Ser655Cys)
6g.30897054G>ACA363137346DDR1c.1910G>A (p.Ser637Asn)
c.1799G>A (p.Ser600Asn)
c.1106G>A (p.Ser369Asn)
c.1472G>A (p.Ser491Asn)
c.*967G>A (n.*967G>A)
c.1853G>A (p.Ser618Asn)
c.384G>A
c.*27G>A (n.*27G>A)
c.1964G>A (p.Ser655Asn)
6g.30897054G>CCA363137341DDR1c.1910G>C (p.Ser637Thr)
c.1799G>C (p.Ser600Thr)
c.1106G>C (p.Ser369Thr)
c.1472G>C (p.Ser491Thr)
c.*967G>C (n.*967G>C)
c.1853G>C (p.Ser618Thr)
c.384G>C
c.*27G>C (n.*27G>C)
c.1964G>C (p.Ser655Thr)
gnomAD v4
6g.30897054G>TCA363137343DDR1c.1910G>T (p.Ser637Ile)
c.1799G>T (p.Ser600Ile)
c.1106G>T (p.Ser369Ile)
c.1472G>T (p.Ser491Ile)
c.*967G>T (n.*967G>T)
c.1853G>T (p.Ser618Ile)
c.384G>T
c.*27G>T (n.*27G>T)
c.1964G>T (p.Ser655Ile)
gnomAD v4
6g.30897055T>ACA363137349DDR1c.1911T>A (p.Ser637Arg)
c.1800T>A (p.Ser600Arg)
c.1107T>A (p.Ser369Arg)
c.1473T>A (p.Ser491Arg)
c.*968T>A (n.*968T>A)
c.1854T>A (p.Ser618Arg)
c.385T>A
c.*28T>A (n.*28T>A)
c.1965T>A (p.Ser655Arg)
6g.30897055T>CCA449778405DDR1c.1911T>C (p.Ser637=)
c.1800T>C (p.Ser600=)
c.1107T>C (p.Ser369=)
c.1473T>C (p.Ser491=)
c.*968T>C (n.*968T>C)
c.1854T>C (p.Ser618=)
c.385T>C
c.*28T>C (n.*28T>C)
c.1965T>C (p.Ser655=)
6g.30897055T>GCA363137352DDR1c.1911T>G (p.Ser637Arg)
c.1800T>G (p.Ser600Arg)
c.1107T>G (p.Ser369Arg)
c.1473T>G (p.Ser491Arg)
c.*968T>G (n.*968T>G)
c.1854T>G (p.Ser618Arg)
c.385T>G
c.*28T>G (n.*28T>G)
c.1965T>G (p.Ser655Arg)
6g.30897056C>ACA363137356DDR1c.1912C>A (p.Leu638Ile)
c.1801C>A (p.Leu601Ile)
c.1108C>A (p.Leu370Ile)
c.1474C>A (p.Leu492Ile)
c.*969C>A (n.*969C>A)
c.1855C>A (p.Leu619Ile)
c.386C>A
c.*29C>A (n.*29C>A)
c.1966C>A (p.Leu656Ile)
6g.30897056C>GCA363137358DDR1c.1912C>G (p.Leu638Val)
c.1801C>G (p.Leu601Val)
c.1108C>G (p.Leu370Val)
c.1474C>G (p.Leu492Val)
c.*969C>G (n.*969C>G)
c.1855C>G (p.Leu619Val)
c.386C>G
c.*29C>G (n.*29C>G)
c.1966C>G (p.Leu656Val)
6g.30897056C>TCA363137361DDR1c.1912C>T (p.Leu638Phe)
c.1801C>T (p.Leu601Phe)
c.1108C>T (p.Leu370Phe)
c.1474C>T (p.Leu492Phe)
c.*969C>T (n.*969C>T)
c.1855C>T (p.Leu619Phe)
c.386C>T
c.*29C>T (n.*29C>T)
c.1966C>T (p.Leu656Phe)
6g.30897057T>ACA363137363DDR1c.1913T>A (p.Leu638His)
c.1802T>A (p.Leu601His)
c.1109T>A (p.Leu370His)
c.1475T>A (p.Leu492His)
c.*970T>A (n.*970T>A)
c.1856T>A (p.Leu619His)
c.387T>A
c.*30T>A (n.*30T>A)
c.1967T>A (p.Leu656His)
6g.30897057T>CCA363137368DDR1c.1913T>C (p.Leu638Pro)
c.1802T>C (p.Leu601Pro)
c.1109T>C (p.Leu370Pro)
c.1475T>C (p.Leu492Pro)
c.*970T>C (n.*970T>C)
c.1856T>C (p.Leu619Pro)
c.387T>C
c.*30T>C (n.*30T>C)
c.1967T>C (p.Leu656Pro)
6g.30897057T>GCA363137365DDR1c.1913T>G (p.Leu638Arg)
c.1802T>G (p.Leu601Arg)
c.1109T>G (p.Leu370Arg)
c.1475T>G (p.Leu492Arg)
c.*970T>G (n.*970T>G)
c.1856T>G (p.Leu619Arg)
c.387T>G
c.*30T>G (n.*30T>G)
c.1967T>G (p.Leu656Arg)
6g.30897058T>ACA449778410DDR1c.1914T>A (p.Leu638=)
c.1803T>A (p.Leu601=)
c.1110T>A (p.Leu370=)
c.1476T>A (p.Leu492=)
c.*971T>A (n.*971T>A)
c.1857T>A (p.Leu619=)
c.388T>A
c.*31T>A (n.*31T>A)
c.1968T>A (p.Leu656=)
6g.30897058T>CCA449778409DDR1c.1914T>C (p.Leu638=)
c.1803T>C (p.Leu601=)
c.1110T>C (p.Leu370=)
c.1476T>C (p.Leu492=)
c.*971T>C (n.*971T>C)
c.1857T>C (p.Leu619=)
c.388T>C
c.*31T>C (n.*31T>C)
c.1968T>C (p.Leu656=)
6g.30897058T>GCA449778408DDR1c.1914T>G (p.Leu638=)
c.1803T>G (p.Leu601=)
c.1110T>G (p.Leu370=)
c.1476T>G (p.Leu492=)
c.*971T>G (n.*971T>G)
c.1857T>G (p.Leu619=)
c.388T>G
c.*31T>G (n.*31T>G)
c.1968T>G (p.Leu656=)
6g.30897059G>ACA363137372DDR1c.1915G>A (p.Asp639Asn)
c.1804G>A (p.Asp602Asn)
c.1111G>A (p.Asp371Asn)
c.1477G>A (p.Asp493Asn)
c.*972G>A (n.*972G>A)
c.1858G>A (p.Asp620Asn)
c.389G>A
c.*32G>A (n.*32G>A)
c.1969G>A (p.Asp657Asn)
6g.30897059G>CCA363137374DDR1c.1915G>C (p.Asp639His)
c.1804G>C (p.Asp602His)
c.1111G>C (p.Asp371His)
c.1477G>C (p.Asp493His)
c.*972G>C (n.*972G>C)
c.1858G>C (p.Asp620His)
c.389G>C
c.*32G>C (n.*32G>C)
c.1969G>C (p.Asp657His)
6g.30897059G>TCA363137376DDR1c.1915G>T (p.Asp639Tyr)
c.1804G>T (p.Asp602Tyr)
c.1111G>T (p.Asp371Tyr)
c.1477G>T (p.Asp493Tyr)
c.*972G>T (n.*972G>T)
c.1858G>T (p.Asp620Tyr)
c.389G>T
c.*32G>T (n.*32G>T)
c.1969G>T (p.Asp657Tyr)
gnomAD v4
6g.30897060A>CCA363137379DDR1c.1916A>C (p.Asp639Ala)
c.1805A>C (p.Asp602Ala)
c.1112A>C (p.Asp371Ala)
c.1478A>C (p.Asp493Ala)
c.*973A>C (n.*973A>C)
c.1859A>C (p.Asp620Ala)
c.390A>C
c.*33A>C (n.*33A>C)
c.1970A>C (p.Asp657Ala)
6g.30897060A>GCA363137382DDR1c.1916A>G (p.Asp639Gly)
c.1805A>G (p.Asp602Gly)
c.1112A>G (p.Asp371Gly)
c.1478A>G (p.Asp493Gly)
c.*973A>G (n.*973A>G)
c.1859A>G (p.Asp620Gly)
c.390A>G
c.*33A>G (n.*33A>G)
c.1970A>G (p.Asp657Gly)
dbSNP
6g.30897060A>TCA363137384DDR1c.1916A>T (p.Asp639Val)
c.1805A>T (p.Asp602Val)
c.1112A>T (p.Asp371Val)
c.1478A>T (p.Asp493Val)
c.*973A>T (n.*973A>T)
c.1859A>T (p.Asp620Val)
c.390A>T
c.*33A>T (n.*33A>T)
c.1970A>T (p.Asp657Val)
6g.30897061T>ACA363137387DDR1c.1917T>A (p.Asp639Glu)
c.1806T>A (p.Asp602Glu)
c.1113T>A (p.Asp371Glu)
c.1479T>A (p.Asp493Glu)
c.*974T>A (n.*974T>A)
c.1860T>A (p.Asp620Glu)
c.391T>A
c.*34T>A (n.*34T>A)
c.1971T>A (p.Asp657Glu)
6g.30897061T>CCA449778413DDR1c.1917T>C (p.Asp639=)
c.1806T>C (p.Asp602=)
c.1113T>C (p.Asp371=)
c.1479T>C (p.Asp493=)
c.*974T>C (n.*974T>C)
c.1860T>C (p.Asp620=)
c.391T>C
c.*34T>C (n.*34T>C)
c.1971T>C (p.Asp657=)
6g.30897061T>GCA363137389DDR1c.1917T>G (p.Asp639Glu)
c.1806T>G (p.Asp602Glu)
c.1113T>G (p.Asp371Glu)
c.1479T>G (p.Asp493Glu)
c.*974T>G (n.*974T>G)
c.1860T>G (p.Asp620Glu)
c.391T>G
c.*34T>G (n.*34T>G)
c.1971T>G (p.Asp657Glu)
6g.30897062T>ACA363137392DDR1c.1918T>A (p.Phe640Ile)
c.1807T>A (p.Phe603Ile)
c.1114T>A (p.Phe372Ile)
c.1480T>A (p.Phe494Ile)
c.*975T>A (n.*975T>A)
c.1861T>A (p.Phe621Ile)
c.392T>A
c.*35T>A (n.*35T>A)
c.1972T>A (p.Phe658Ile)
6g.30897062T>CCA363137394DDR1c.1918T>C (p.Phe640Leu)
c.1807T>C (p.Phe603Leu)
c.1114T>C (p.Phe372Leu)
c.1480T>C (p.Phe494Leu)
c.*975T>C (n.*975T>C)
c.1861T>C (p.Phe621Leu)
c.392T>C
c.*35T>C (n.*35T>C)
c.1972T>C (p.Phe658Leu)
6g.30897062T>GCA363137396DDR1c.1918T>G (p.Phe640Val)
c.1807T>G (p.Phe603Val)
c.1114T>G (p.Phe372Val)
c.1480T>G (p.Phe494Val)
c.*975T>G (n.*975T>G)
c.1861T>G (p.Phe621Val)
c.392T>G
c.*35T>G (n.*35T>G)
c.1972T>G (p.Phe658Val)
6g.30897063T>ACA363137402DDR1c.1919T>A (p.Phe640Tyr)
c.1808T>A (p.Phe603Tyr)
c.1115T>A (p.Phe372Tyr)
c.1481T>A (p.Phe494Tyr)
c.*976T>A (n.*976T>A)
c.1862T>A (p.Phe621Tyr)
c.393T>A
c.*36T>A (n.*36T>A)
c.1973T>A (p.Phe658Tyr)
6g.30897063T>CCA363137404DDR1c.1919T>C (p.Phe640Ser)
c.1808T>C (p.Phe603Ser)
c.1115T>C (p.Phe372Ser)
c.1481T>C (p.Phe494Ser)
c.*976T>C (n.*976T>C)
c.1862T>C (p.Phe621Ser)
c.393T>C
c.*36T>C (n.*36T>C)
c.1973T>C (p.Phe658Ser)
6g.30897063T>GCA363137399DDR1c.1919T>G (p.Phe640Cys)
c.1808T>G (p.Phe603Cys)
c.1115T>G (p.Phe372Cys)
c.1481T>G (p.Phe494Cys)
c.*976T>G (n.*976T>G)
c.1862T>G (p.Phe621Cys)
c.393T>G
c.*36T>G (n.*36T>G)
c.1973T>G (p.Phe658Cys)
6g.30897064C>ACA363137406DDR1c.1920C>A (p.Phe640Leu)
c.1809C>A (p.Phe603Leu)
c.1116C>A (p.Phe372Leu)
c.1482C>A (p.Phe494Leu)
c.*977C>A (n.*977C>A)
c.1863C>A (p.Phe621Leu)
c.394C>A
c.*37C>A (n.*37C>A)
c.1974C>A (p.Phe658Leu)
dbSNP
6g.30897064C>GCA363137409DDR1c.1920C>G (p.Phe640Leu)
c.1809C>G (p.Phe603Leu)
c.1116C>G (p.Phe372Leu)
c.1482C>G (p.Phe494Leu)
c.*977C>G (n.*977C>G)
c.1863C>G (p.Phe621Leu)
c.394C>G
c.*37C>G (n.*37C>G)
c.1974C>G (p.Phe658Leu)
6g.30897064C>TCA449778415DDR1c.1920C>T (p.Phe640=)
c.1809C>T (p.Phe603=)
c.1116C>T (p.Phe372=)
c.1482C>T (p.Phe494=)
c.*977C>T (n.*977C>T)
c.1863C>T (p.Phe621=)
c.394C>T
c.*37C>T (n.*37C>T)
c.1974C>T (p.Phe658=)
gnomAD v4
6g.30897065C>ACA363137412DDR1c.1921C>A (p.Pro641Thr)
c.1810C>A (p.Pro604Thr)
c.1117C>A (p.Pro373Thr)
c.1483C>A (p.Pro495Thr)
c.*978C>A (n.*978C>A)
c.1864C>A (p.Pro622Thr)
c.395C>A
c.*38C>A (n.*38C>A)
c.1975C>A (p.Pro659Thr)
6g.30897065C=CA1618917631DDR1c.1921C= (p.Pro641=)
c.1810C= (p.Pro604=)
c.1117C= (p.Pro373=)
c.1483C= (p.Pro495=)
c.*978C= (n.*978C=)
c.1864C= (p.Pro622=)
c.395C=
c.*38C= (n.*38C=)
c.1975C= (p.Pro659=)
6g.30897065C>GCA363137414DDR1c.1921C>G (p.Pro641Ala)
c.1810C>G (p.Pro604Ala)
c.1117C>G (p.Pro373Ala)
c.1483C>G (p.Pro495Ala)
c.*978C>G (n.*978C>G)
c.1864C>G (p.Pro622Ala)
c.395C>G
c.*38C>G (n.*38C>G)
c.1975C>G (p.Pro659Ala)
6g.30897065C>TCA363137416DDR1c.1921C>T (p.Pro641Ser)
c.1810C>T (p.Pro604Ser)
c.1117C>T (p.Pro373Ser)
c.1483C>T (p.Pro495Ser)
c.*978C>T (n.*978C>T)
c.1864C>T (p.Pro622Ser)
c.395C>T
c.*38C>T (n.*38C>T)
c.1975C>T (p.Pro659Ser)
dbSNP
6g.30897066C>ACA363137419DDR1c.1922C>A (p.Pro641His)
c.1811C>A (p.Pro604His)
c.1118C>A (p.Pro373His)
c.1484C>A (p.Pro495His)
c.*979C>A (n.*979C>A)
c.1865C>A (p.Pro622His)
c.396C>A
c.*39C>A (n.*39C>A)
c.1976C>A (p.Pro659His)
dbSNP
6g.30897066C=CA1618917632DDR1c.1922C= (p.Pro641=)
c.1811C= (p.Pro604=)
c.1118C= (p.Pro373=)
c.1484C= (p.Pro495=)
c.*979C= (n.*979C=)
c.1865C= (p.Pro622=)
c.396C=
c.*39C= (n.*39C=)
c.1976C= (p.Pro659=)
6g.30897066C>GCA363137422DDR1c.1922C>G (p.Pro641Arg)
c.1811C>G (p.Pro604Arg)
c.1118C>G (p.Pro373Arg)
c.1484C>G (p.Pro495Arg)
c.*979C>G (n.*979C>G)
c.1865C>G (p.Pro622Arg)
c.396C>G
c.*39C>G (n.*39C>G)
c.1976C>G (p.Pro659Arg)
6g.30897066C>TCA363137424DDR1c.1922C>T (p.Pro641Leu)
c.1811C>T (p.Pro604Leu)
c.1118C>T (p.Pro373Leu)
c.1484C>T (p.Pro495Leu)
c.*979C>T (n.*979C>T)
c.1865C>T (p.Pro622Leu)
c.396C>T
c.*39C>T (n.*39C>T)
c.1976C>T (p.Pro659Leu)
gnomAD v4 COSMIC COSMIC COSMIC COSMIC
6g.30897067C>ACA449778419DDR1c.1923C>A (p.Pro641=)
c.1812C>A (p.Pro604=)
c.1119C>A (p.Pro373=)
c.1485C>A (p.Pro495=)
c.*980C>A (n.*980C>A)
c.1866C>A (p.Pro622=)
c.397C>A
c.*40C>A (n.*40C>A)
c.1977C>A (p.Pro659=)
gnomAD v4
6g.30897067C=CA1618917633DDR1c.1923C= (p.Pro641=)
c.1812C= (p.Pro604=)
c.1119C= (p.Pro373=)
c.1485C= (p.Pro495=)
c.*980C= (n.*980C=)
c.1866C= (p.Pro622=)
c.397C=
c.*40C= (n.*40C=)
c.1977C= (p.Pro659=)
6g.30897067C>GCA449778420DDR1c.1923C>G (p.Pro641=)
c.1812C>G (p.Pro604=)
c.1119C>G (p.Pro373=)
c.1485C>G (p.Pro495=)
c.*980C>G (n.*980C>G)
c.1866C>G (p.Pro622=)
c.397C>G
c.*40C>G (n.*40C>G)
c.1977C>G (p.Pro659=)
6g.30897067C>TCA449778421DDR1c.1923C>T (p.Pro641=)
c.1812C>T (p.Pro604=)
c.1119C>T (p.Pro373=)
c.1485C>T (p.Pro495=)
c.*980C>T (n.*980C>T)
c.1866C>T (p.Pro622=)
c.397C>T
c.*40C>T (n.*40C>T)
c.1977C>T (p.Pro659=)
dbSNP gnomAD v4
6g.30897068C>ACA363137434DDR1c.1924C>A (p.Leu642Ile)
c.1813C>A (p.Leu605Ile)
c.1120C>A (p.Leu374Ile)
c.1486C>A (p.Leu496Ile)
c.*981C>A (n.*981C>A)
c.1867C>A (p.Leu623Ile)
c.398C>A
c.*41C>A (n.*41C>A)
c.1978C>A (p.Leu660Ile)
6g.30897068C>GCA363137431DDR1c.1924C>G (p.Leu642Val)
c.1813C>G (p.Leu605Val)
c.1120C>G (p.Leu374Val)
c.1486C>G (p.Leu496Val)
c.*981C>G (n.*981C>G)
c.1867C>G (p.Leu623Val)
c.398C>G
c.*41C>G (n.*41C>G)
c.1978C>G (p.Leu660Val)
6g.30897068C>TCA363137429DDR1c.1924C>T (p.Leu642Phe)
c.1813C>T (p.Leu605Phe)
c.1120C>T (p.Leu374Phe)
c.1486C>T (p.Leu496Phe)
c.*981C>T (n.*981C>T)
c.1867C>T (p.Leu623Phe)
c.398C>T
c.*41C>T (n.*41C>T)
c.1978C>T (p.Leu660Phe)
6g.30897069T>ACA363137437DDR1c.1925T>A (p.Leu642His)
c.1814T>A (p.Leu605His)
c.1121T>A (p.Leu374His)
c.1487T>A (p.Leu496His)
c.*982T>A (n.*982T>A)
c.1868T>A (p.Leu623His)
c.399T>A
c.*42T>A (n.*42T>A)
c.1979T>A (p.Leu660His)
6g.30897069T>CCA363137439DDR1c.1925T>C (p.Leu642Pro)
c.1814T>C (p.Leu605Pro)
c.1121T>C (p.Leu374Pro)
c.1487T>C (p.Leu496Pro)
c.*982T>C (n.*982T>C)
c.1868T>C (p.Leu623Pro)
c.399T>C
c.*42T>C (n.*42T>C)
c.1979T>C (p.Leu660Pro)
6g.30897069T>GCA363137442DDR1c.1925T>G (p.Leu642Arg)
c.1814T>G (p.Leu605Arg)
c.1121T>G (p.Leu374Arg)
c.1487T>G (p.Leu496Arg)
c.*982T>G (n.*982T>G)
c.1868T>G (p.Leu623Arg)
c.399T>G
c.*42T>G (n.*42T>G)
c.1979T>G (p.Leu660Arg)
6g.30897070T>ACA449778424DDR1c.1926T>A (p.Leu642=)
c.1815T>A (p.Leu605=)
c.1122T>A (p.Leu374=)
c.1488T>A (p.Leu496=)
c.*983T>A (n.*983T>A)
c.1869T>A (p.Leu623=)
c.400T>A
c.*43T>A (n.*43T>A)
c.1980T>A (p.Leu660=)
6g.30897070T>CCA449778425DDR1c.1926T>C (p.Leu642=)
c.1815T>C (p.Leu605=)
c.1122T>C (p.Leu374=)
c.1488T>C (p.Leu496=)
c.*983T>C (n.*983T>C)
c.1869T>C (p.Leu623=)
c.400T>C
c.*43T>C (n.*43T>C)
c.1980T>C (p.Leu660=)
6g.30897070T>GCA449778426DDR1c.1926T>G (p.Leu642=)
c.1815T>G (p.Leu605=)
c.1122T>G (p.Leu374=)
c.1488T>G (p.Leu496=)
c.*983T>G (n.*983T>G)
c.1869T>G (p.Leu623=)
c.400T>G
c.*43T>G (n.*43T>G)
c.1980T>G (p.Leu660=)
6g.30897071A=CA1618917634DDR1c.1927A= (p.Asn643=)
c.1816A= (p.Asn606=)
c.1123A= (p.Asn375=)
c.1489A= (p.Asn497=)
c.*984A= (n.*984A=)
c.1870A= (p.Asn624=)
c.401A=
c.*44A= (n.*44A=)
c.1981A= (p.Asn661=)
6g.30897071A>CCA363137444DDR1c.1927A>C (p.Asn643His)
c.1816A>C (p.Asn606His)
c.1123A>C (p.Asn375His)
c.1489A>C (p.Asn497His)
c.*984A>C (n.*984A>C)
c.1870A>C (p.Asn624His)
c.401A>C
c.*44A>C (n.*44A>C)
c.1981A>C (p.Asn661His)
dbSNP gnomAD v3 gnomAD v4
6g.30897071A>GCA363137446DDR1c.1927A>G (p.Asn643Asp)
c.1816A>G (p.Asn606Asp)
c.1123A>G (p.Asn375Asp)
c.1489A>G (p.Asn497Asp)
c.*984A>G (n.*984A>G)
c.1870A>G (p.Asn624Asp)
c.401A>G
c.*44A>G (n.*44A>G)
c.1981A>G (p.Asn661Asp)
6g.30897071A>TCA363137449DDR1c.1927A>T (p.Asn643Tyr)
c.1816A>T (p.Asn606Tyr)
c.1123A>T (p.Asn375Tyr)
c.1489A>T (p.Asn497Tyr)
c.*984A>T (n.*984A>T)
c.1870A>T (p.Asn624Tyr)
c.401A>T
c.*44A>T (n.*44A>T)
c.1981A>T (p.Asn661Tyr)
6g.30897072A=CA1618917635DDR1c.1928A= (p.Asn643=)
c.1817A= (p.Asn606=)
c.1124A= (p.Asn375=)
c.1490A= (p.Asn497=)
c.*985A= (n.*985A=)
c.1871A= (p.Asn624=)
c.402A=
c.*45A= (n.*45A=)
c.1982A= (p.Asn661=)
6g.30897072A>CCA363137453DDR1c.1928A>C (p.Asn643Thr)
c.1817A>C (p.Asn606Thr)
c.1124A>C (p.Asn375Thr)
c.1490A>C (p.Asn497Thr)
c.*985A>C (n.*985A>C)
c.1871A>C (p.Asn624Thr)
c.402A>C
c.*45A>C (n.*45A>C)
c.1982A>C (p.Asn661Thr)
dbSNP
6g.30897072A>GCA363137458DDR1c.1928A>G (p.Asn643Ser)
c.1817A>G (p.Asn606Ser)
c.1124A>G (p.Asn375Ser)
c.1490A>G (p.Asn497Ser)
c.*985A>G (n.*985A>G)
c.1871A>G (p.Asn624Ser)
c.402A>G
c.*45A>G (n.*45A>G)
c.1982A>G (p.Asn661Ser)
6g.30897072A>TCA363137455DDR1c.1928A>T (p.Asn643Ile)
c.1817A>T (p.Asn606Ile)
c.1124A>T (p.Asn375Ile)
c.1490A>T (p.Asn497Ile)
c.*985A>T (n.*985A>T)
c.1871A>T (p.Asn624Ile)
c.402A>T
c.*45A>T (n.*45A>T)
c.1982A>T (p.Asn661Ile)
dbSNP gnomAD v2 gnomAD v4
6g.30897073T>ACA363137460DDR1c.1929T>A (p.Asn643Lys)
c.1818T>A (p.Asn606Lys)
c.1125T>A (p.Asn375Lys)
c.1491T>A (p.Asn497Lys)
c.*986T>A (n.*986T>A)
c.1872T>A (p.Asn624Lys)
c.403T>A
c.*46T>A (n.*46T>A)
c.1983T>A (p.Asn661Lys)
6g.30897073T>CCA449778430DDR1c.1929T>C (p.Asn643=)
c.1818T>C (p.Asn606=)
c.1125T>C (p.Asn375=)
c.1491T>C (p.Asn497=)
c.*986T>C (n.*986T>C)
c.1872T>C (p.Asn624=)
c.403T>C
c.*46T>C (n.*46T>C)
c.1983T>C (p.Asn661=)
gnomAD v4
6g.30897073T>GCA363137463DDR1c.1929T>G (p.Asn643Lys)
c.1818T>G (p.Asn606Lys)
c.1125T>G (p.Asn375Lys)
c.1491T>G (p.Asn497Lys)
c.*986T>G (n.*986T>G)
c.1872T>G (p.Asn624Lys)
c.403T>G
c.*46T>G (n.*46T>G)
c.1983T>G (p.Asn661Lys)
dbSNP gnomAD v2 gnomAD v4
6g.30897073T=CA1618917636DDR1c.1929T= (p.Asn643=)
c.1818T= (p.Asn606=)
c.1125T= (p.Asn375=)
c.1491T= (p.Asn497=)
c.*986T= (n.*986T=)
c.1872T= (p.Asn624=)
c.403T=
c.*46T= (n.*46T=)
c.1983T= (p.Asn661=)
6g.30897074G>ACA363137468DDR1c.1930G>A (p.Val644Met)
c.1819G>A (p.Val607Met)
c.1126G>A (p.Val376Met)
c.1492G>A (p.Val498Met)
c.*987G>A (n.*987G>A)
c.1873G>A (p.Val625Met)
c.404G>A
c.*47G>A (n.*47G>A)
c.1984G>A (p.Val662Met)
6g.30897074G>CCA363137470DDR1c.1930G>C (p.Val644Leu)
c.1819G>C (p.Val607Leu)
c.1126G>C (p.Val376Leu)
c.1492G>C (p.Val498Leu)
c.*987G>C (n.*987G>C)
c.1873G>C (p.Val625Leu)
c.404G>C
c.*47G>C (n.*47G>C)
c.1984G>C (p.Val662Leu)
6g.30897074G>TCA363137472DDR1c.1930G>T (p.Val644Leu)
c.1819G>T (p.Val607Leu)
c.1126G>T (p.Val376Leu)
c.1492G>T (p.Val498Leu)
c.*987G>T (n.*987G>T)
c.1873G>T (p.Val625Leu)
c.404G>T
c.*47G>T (n.*47G>T)
c.1984G>T (p.Val662Leu)
6g.30897075T>ACA363137475DDR1c.1931T>A (p.Val644Glu)
c.1820T>A (p.Val607Glu)
c.1127T>A (p.Val376Glu)
c.1493T>A (p.Val498Glu)
c.*988T>A (n.*988T>A)
c.1T>A
c.1874T>A (p.Val625Glu)
c.405T>A
c.*48T>A (n.*48T>A)
c.1985T>A (p.Val662Glu)
6g.30897075T>CCA363137477DDR1c.1931T>C (p.Val644Ala)
c.1820T>C (p.Val607Ala)
c.1127T>C (p.Val376Ala)
c.1493T>C (p.Val498Ala)
c.*988T>C (n.*988T>C)
c.1T>C
c.1874T>C (p.Val625Ala)
c.405T>C
c.*48T>C (n.*48T>C)
c.1985T>C (p.Val662Ala)
6g.30897075T>GCA363137479DDR1c.1931T>G (p.Val644Gly)
c.1820T>G (p.Val607Gly)
c.1127T>G (p.Val376Gly)
c.1493T>G (p.Val498Gly)
c.*988T>G (n.*988T>G)
c.1T>G
c.1874T>G (p.Val625Gly)
c.405T>G
c.*48T>G (n.*48T>G)
c.1985T>G (p.Val662Gly)
6g.30897076G>ACA449778432DDR1c.1932G>A (p.Val644=)
c.1821G>A (p.Val607=)
c.1128G>A (p.Val376=)
c.1494G>A (p.Val498=)
c.*989G>A (n.*989G>A)
c.2G>A
c.1875G>A (p.Val625=)
c.406G>A
c.*49G>A (n.*49G>A)
c.1986G>A (p.Val662=)
6g.30897076G>CCA449778433DDR1c.1932G>C (p.Val644=)
c.1821G>C (p.Val607=)
c.1128G>C (p.Val376=)
c.1494G>C (p.Val498=)
c.*989G>C (n.*989G>C)
c.2G>C
c.1875G>C (p.Val625=)
c.406G>C
c.*49G>C (n.*49G>C)
c.1986G>C (p.Val662=)
6g.30897076G>TCA449778434DDR1c.1932G>T (p.Val644=)
c.1821G>T (p.Val607=)
c.1128G>T (p.Val376=)
c.1494G>T (p.Val498=)
c.*989G>T (n.*989G>T)
c.2G>T
c.1875G>T (p.Val625=)
c.406G>T
c.*49G>T (n.*49G>T)
c.1986G>T (p.Val662=)
6g.30897077C>ACA363137482DDR1c.1933C>A (p.Arg645Ser)
c.1822C>A (p.Arg608Ser)
c.1129C>A (p.Arg377Ser)
c.1495C>A (p.Arg499Ser)
c.*990C>A (n.*990C>A)
c.3C>A
c.1876C>A (p.Arg626Ser)
c.407C>A
c.*50C>A (n.*50C>A)
c.1987C>A (p.Arg663Ser)
6g.30897077C=CA1618917637DDR1c.1933C= (p.Arg645=)
c.1822C= (p.Arg608=)
c.1129C= (p.Arg377=)
c.1495C= (p.Arg499=)
c.*990C= (n.*990C=)
c.3C=
c.1876C= (p.Arg626=)
c.407C=
c.*50C= (n.*50C=)
c.1987C= (p.Arg663=)
6g.30897077C>GCA363137485DDR1c.1933C>G (p.Arg645Gly)
c.1822C>G (p.Arg608Gly)
c.1129C>G (p.Arg377Gly)
c.1495C>G (p.Arg499Gly)
c.*990C>G (n.*990C>G)
c.3C>G
c.1876C>G (p.Arg626Gly)
c.407C>G
c.*50C>G (n.*50C>G)
c.1987C>G (p.Arg663Gly)
dbSNP
6g.30897077C>TCA363137487DDR1c.1933C>T (p.Arg645Cys)
c.1822C>T (p.Arg608Cys)
c.1129C>T (p.Arg377Cys)
c.1495C>T (p.Arg499Cys)
c.*990C>T (n.*990C>T)
c.3C>T
c.1876C>T (p.Arg626Cys)
c.407C>T
c.*50C>T (n.*50C>T)
c.1987C>T (p.Arg663Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
6g.30897078G>ACA3704733DDR1c.1934G>A (p.Arg645His)
c.1823G>A (p.Arg608His)
c.1130G>A (p.Arg377His)
c.1496G>A (p.Arg499His)
c.*991G>A (n.*991G>A)
c.4G>A
c.1877G>A (p.Arg626His)
c.408G>A
c.*51G>A (n.*51G>A)
c.1988G>A (p.Arg663His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897078G>CCA363137494DDR1c.1934G>C (p.Arg645Pro)
c.1823G>C (p.Arg608Pro)
c.1130G>C (p.Arg377Pro)
c.1496G>C (p.Arg499Pro)
c.*991G>C (n.*991G>C)
c.4G>C
c.1877G>C (p.Arg626Pro)
c.408G>C
c.*51G>C (n.*51G>C)
c.1988G>C (p.Arg663Pro)
dbSNP gnomAD v2 gnomAD v4
6g.30897078G=CA1618917638DDR1c.1934G= (p.Arg645=)
c.1823G= (p.Arg608=)
c.1130G= (p.Arg377=)
c.1496G= (p.Arg499=)
c.*991G= (n.*991G=)
c.4G=
c.1877G= (p.Arg626=)
c.408G=
c.*51G= (n.*51G=)
c.1988G= (p.Arg663=)
6g.30897078G>TCA363137492DDR1c.1934G>T (p.Arg645Leu)
c.1823G>T (p.Arg608Leu)
c.1130G>T (p.Arg377Leu)
c.1496G>T (p.Arg499Leu)
c.*991G>T (n.*991G>T)
c.4G>T
c.1877G>T (p.Arg626Leu)
c.408G>T
c.*51G>T (n.*51G>T)
c.1988G>T (p.Arg663Leu)
gnomAD v4
6g.30897079T>ACA449778438DDR1c.1935T>A (p.Arg645=)
c.1824T>A (p.Arg608=)
c.1131T>A (p.Arg377=)
c.1497T>A (p.Arg499=)
c.*992T>A (n.*992T>A)
c.5T>A
c.1878T>A (p.Arg626=)
c.409T>A
c.*52T>A (n.*52T>A)
c.1989T>A (p.Arg663=)
6g.30897079T>CCA3704734DDR1c.1935T>C (p.Arg645=)
c.1824T>C (p.Arg608=)
c.1131T>C (p.Arg377=)
c.1497T>C (p.Arg499=)
c.*992T>C (n.*992T>C)
c.5T>C
c.1878T>C (p.Arg626=)
c.409T>C
c.*52T>C (n.*52T>C)
c.1989T>C (p.Arg663=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897079T>GCA449778439DDR1c.1935T>G (p.Arg645=)
c.1824T>G (p.Arg608=)
c.1131T>G (p.Arg377=)
c.1497T>G (p.Arg499=)
c.*992T>G (n.*992T>G)
c.5T>G
c.1878T>G (p.Arg626=)
c.409T>G
c.*52T>G (n.*52T>G)
c.1989T>G (p.Arg663=)
6g.30897079T=CA1618917639DDR1c.1935T= (p.Arg645=)
c.1824T= (p.Arg608=)
c.1131T= (p.Arg377=)
c.1497T= (p.Arg499=)
c.*992T= (n.*992T=)
c.5T=
c.1878T= (p.Arg626=)
c.409T=
c.*52T= (n.*52T=)
c.1989T= (p.Arg663=)
6g.30897080A>CCA363137498DDR1c.1936A>C (p.Lys646Gln)
c.1825A>C (p.Lys609Gln)
c.1132A>C (p.Lys378Gln)
c.1498A>C (p.Lys500Gln)
c.*993A>C (n.*993A>C)
c.6A>C
c.1879A>C (p.Lys627Gln)
c.410A>C
c.*53A>C (n.*53A>C)
c.1990A>C (p.Lys664Gln)
6g.30897080A>GCA363137500DDR1c.1936A>G (p.Lys646Glu)
c.1825A>G (p.Lys609Glu)
c.1132A>G (p.Lys378Glu)
c.1498A>G (p.Lys500Glu)
c.*993A>G (n.*993A>G)
c.6A>G
c.1879A>G (p.Lys627Glu)
c.410A>G
c.*53A>G (n.*53A>G)
c.1990A>G (p.Lys664Glu)
6g.30897080A>TCA363137501DDR1c.1936A>T (p.Lys646Ter)
c.1825A>T (p.Lys609Ter)
c.1132A>T (p.Lys378Ter)
c.1498A>T (p.Lys500Ter)
c.*993A>T (n.*993A>T)
c.6A>T
c.1879A>T (p.Lys627Ter)
c.410A>T
c.*53A>T (n.*53A>T)
c.1990A>T (p.Lys664Ter)
6g.30897081A=CA1618917640DDR1c.1937A= (p.Lys646=)
c.1826A= (p.Lys609=)
c.1133A= (p.Lys378=)
c.1499A= (p.Lys500=)
c.*994A= (n.*994A=)
c.7A=
c.1880A= (p.Lys627=)
c.411A=
c.*54A= (n.*54A=)
c.1991A= (p.Lys664=)
6g.30897081A>CCA363137505DDR1c.1937A>C (p.Lys646Thr)
c.1826A>C (p.Lys609Thr)
c.1133A>C (p.Lys378Thr)
c.1499A>C (p.Lys500Thr)
c.*994A>C (n.*994A>C)
c.7A>C
c.1880A>C (p.Lys627Thr)
c.411A>C
c.*54A>C (n.*54A>C)
c.1991A>C (p.Lys664Thr)
6g.30897081A>GCA3704735DDR1c.1937A>G (p.Lys646Arg)
c.1826A>G (p.Lys609Arg)
c.1133A>G (p.Lys378Arg)
c.1499A>G (p.Lys500Arg)
c.*994A>G (n.*994A>G)
c.7A>G
c.1880A>G (p.Lys627Arg)
c.411A>G
c.*54A>G (n.*54A>G)
c.1991A>G (p.Lys664Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.30897081A>TCA363137508DDR1c.1937A>T (p.Lys646Met)
c.1826A>T (p.Lys609Met)
c.1133A>T (p.Lys378Met)
c.1499A>T (p.Lys500Met)
c.*994A>T (n.*994A>T)
c.7A>T
c.1880A>T (p.Lys627Met)
c.411A>T
c.*54A>T (n.*54A>T)
c.1991A>T (p.Lys664Met)
6g.30897082G>ACA449778441DDR1c.1938G>A (p.Lys646=)
c.1827G>A (p.Lys609=)
c.1134G>A (p.Lys378=)
c.1500G>A (p.Lys500=)
c.*995G>A (n.*995G>A)
c.8G>A
c.1881G>A (p.Lys627=)
c.412G>A
c.*55G>A (n.*55G>A)
c.1992G>A (p.Lys664=)
6g.30897082G>CCA363137511DDR1c.1938G>C (p.Lys646Asn)
c.1827G>C (p.Lys609Asn)
c.1134G>C (p.Lys378Asn)
c.1500G>C (p.Lys500Asn)
c.*995G>C (n.*995G>C)
c.8G>C
c.1881G>C (p.Lys627Asn)
c.412G>C
c.*55G>C (n.*55G>C)
c.1992G>C (p.Lys664Asn)
gnomAD v4
6g.30897082G=CA1618917641DDR1c.1938G= (p.Lys646=)
c.1827G= (p.Lys609=)
c.1134G= (p.Lys378=)
c.1500G= (p.Lys500=)
c.*995G= (n.*995G=)
c.8G=
c.1881G= (p.Lys627=)
c.412G=
c.*55G= (n.*55G=)
c.1992G= (p.Lys664=)
6g.30897082G>TCA136787464DDR1c.1938G>T (p.Lys646Asn)
c.1827G>T (p.Lys609Asn)
c.1134G>T (p.Lys378Asn)
c.1500G>T (p.Lys500Asn)
c.*995G>T (n.*995G>T)
c.8G>T
c.1881G>T (p.Lys627Asn)
c.412G>T
c.*55G>T (n.*55G>T)
c.1992G>T (p.Lys664Asn)
dbSNP
6g.30897083G>ACA363137515DDR1c.1939G>A (p.Gly647Arg)
c.1828G>A (p.Gly610Arg)
c.1135G>A (p.Gly379Arg)
c.1501G>A (p.Gly501Arg)
c.*996G>A (n.*996G>A)
c.9G>A
c.1882G>A (p.Gly628Arg)
c.413G>A
c.*56G>A (n.*56G>A)
c.1993G>A (p.Gly665Arg)
dbSNP
6g.30897083G>CCA363137518DDR1c.1939G>C (p.Gly647Arg)
c.1828G>C (p.Gly610Arg)
c.1135G>C (p.Gly379Arg)
c.1501G>C (p.Gly501Arg)
c.*996G>C (n.*996G>C)
c.9G>C
c.1882G>C (p.Gly628Arg)
c.413G>C
c.*56G>C (n.*56G>C)
c.1993G>C (p.Gly665Arg)
6g.30897083G=CA1618917642DDR1c.1939G= (p.Gly647=)
c.1828G= (p.Gly610=)
c.1135G= (p.Gly379=)
c.1501G= (p.Gly501=)
c.*996G= (n.*996G=)
c.9G=
c.1882G= (p.Gly628=)
c.413G=
c.*56G= (n.*56G=)
c.1993G= (p.Gly665=)
6g.30897083G>TCA363137521DDR1c.1939G>T (p.Gly647Ter)
c.1828G>T (p.Gly610Ter)
c.1135G>T (p.Gly379Ter)
c.1501G>T (p.Gly501Ter)
c.*996G>T (n.*996G>T)
c.9G>T
c.1882G>T (p.Gly628Ter)
c.413G>T
c.*56G>T (n.*56G>T)
c.1993G>T (p.Gly665Ter)
dbSNP
6g.30897084G>ACA363137530DDR1c.1940G>A (p.Gly647Glu)
c.1829G>A (p.Gly610Glu)
c.1136G>A (p.Gly379Glu)
c.1502G>A (p.Gly501Glu)
c.*997G>A (n.*997G>A)
c.10G>A
c.1883G>A (p.Gly628Glu)
c.414G>A
c.*57G>A (n.*57G>A)
c.1994G>A (p.Gly665Glu)
6g.30897084G>CCA363137524DDR1c.1940G>C (p.Gly647Ala)
c.1829G>C (p.Gly610Ala)
c.1136G>C (p.Gly379Ala)
c.1502G>C (p.Gly501Ala)
c.*997G>C (n.*997G>C)
c.10G>C
c.1883G>C (p.Gly628Ala)
c.414G>C
c.*57G>C (n.*57G>C)
c.1994G>C (p.Gly665Ala)
6g.30897084G>TCA363137527DDR1c.1940G>T (p.Gly647Val)
c.1829G>T (p.Gly610Val)
c.1136G>T (p.Gly379Val)
c.1502G>T (p.Gly501Val)
c.*997G>T (n.*997G>T)
c.10G>T
c.1883G>T (p.Gly628Val)
c.414G>T
c.*57G>T (n.*57G>T)
c.1994G>T (p.Gly665Val)
6g.30897085A>CCA449778447DDR1c.1941A>C (p.Gly647=)
c.1830A>C (p.Gly610=)
c.1137A>C (p.Gly379=)
c.1503A>C (p.Gly501=)
c.*998A>C (n.*998A>C)
c.11A>C
c.1884A>C (p.Gly628=)
c.415A>C
c.*58A>C (n.*58A>C)
c.1995A>C (p.Gly665=)
6g.30897085A>GCA449778445DDR1c.1941A>G (p.Gly647=)
c.1830A>G (p.Gly610=)
c.1137A>G (p.Gly379=)
c.1503A>G (p.Gly501=)
c.*998A>G (n.*998A>G)
c.11A>G
c.1884A>G (p.Gly628=)
c.415A>G
c.*58A>G (n.*58A>G)
c.1995A>G (p.Gly665=)
6g.30897085A>TCA449778446DDR1c.1941A>T (p.Gly647=)
c.1830A>T (p.Gly610=)
c.1137A>T (p.Gly379=)
c.1503A>T (p.Gly501=)
c.*998A>T (n.*998A>T)
c.11A>T
c.1884A>T (p.Gly628=)
c.415A>T
c.*58A>T (n.*58A>T)
c.1995A>T (p.Gly665=)
6g.30897086C>ACA363137533DDR1c.1942C>A (p.His648Asn)
c.1831C>A (p.His611Asn)
c.1138C>A (p.His380Asn)
c.1504C>A (p.His502Asn)
c.*999C>A (n.*999C>A)
c.12C>A
c.1885C>A (p.His629Asn)
c.416C>A
c.*59C>A (n.*59C>A)
c.1996C>A (p.His666Asn)
6g.30897086C=CA1618917643DDR1c.1942C= (p.His648=)
c.1831C= (p.His611=)
c.1138C= (p.His380=)
c.1504C= (p.His502=)
c.*999C= (n.*999C=)
c.12C=
c.1885C= (p.His629=)
c.416C=
c.*59C= (n.*59C=)
c.1996C= (p.His666=)
6g.30897086C>GCA363137535DDR1c.1942C>G (p.His648Asp)
c.1831C>G (p.His611Asp)
c.1138C>G (p.His380Asp)
c.1504C>G (p.His502Asp)
c.*999C>G (n.*999C>G)
c.12C>G
c.1885C>G (p.His629Asp)
c.416C>G
c.*59C>G (n.*59C>G)
c.1996C>G (p.His666Asp)
6g.30897086C>TCA363137537DDR1c.1942C>T (p.His648Tyr)
c.1831C>T (p.His611Tyr)
c.1138C>T (p.His380Tyr)
c.1504C>T (p.His502Tyr)
c.*999C>T (n.*999C>T)
c.12C>T
c.1885C>T (p.His629Tyr)
c.416C>T
c.*59C>T (n.*59C>T)
c.1996C>T (p.His666Tyr)
dbSNP gnomAD v2 gnomAD v4
6g.30897087A>CCA363137541DDR1c.1943A>C (p.His648Pro)
c.1832A>C (p.His611Pro)
c.1139A>C (p.His380Pro)
c.1505A>C (p.His502Pro)
c.*1000A>C (n.*1000A>C)
c.13A>C
c.1886A>C (p.His629Pro)
c.417A>C
c.*60A>C (n.*60A>C)
c.1997A>C (p.His666Pro)
6g.30897087A>GCA363137543DDR1c.1943A>G (p.His648Arg)
c.1832A>G (p.His611Arg)
c.1139A>G (p.His380Arg)
c.1505A>G (p.His502Arg)
c.*1000A>G (n.*1000A>G)
c.13A>G
c.1886A>G (p.His629Arg)
c.417A>G
c.*60A>G (n.*60A>G)
c.1997A>G (p.His666Arg)
gnomAD v4
6g.30897087A>TCA363137546DDR1c.1943A>T (p.His648Leu)
c.1832A>T (p.His611Leu)
c.1139A>T (p.His380Leu)
c.1505A>T (p.His502Leu)
c.*1000A>T (n.*1000A>T)
c.13A>T
c.1886A>T (p.His629Leu)
c.417A>T
c.*60A>T (n.*60A>T)
c.1997A>T (p.His666Leu)
6g.30897088C>ACA3704736DDR1c.1944C>A (p.His648Gln)
c.1833C>A (p.His611Gln)
c.1140C>A (p.His380Gln)
c.1506C>A (p.His502Gln)
c.*1001C>A (n.*1001C>A)
c.14C>A
c.1887C>A (p.His629Gln)
c.418C>A
c.*61C>A (n.*61C>A)
c.1998C>A (p.His666Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897088C=CA1618917644DDR1c.1944C= (p.His648=)
c.1833C= (p.His611=)
c.1140C= (p.His380=)
c.1506C= (p.His502=)
c.*1001C= (n.*1001C=)
c.14C=
c.1887C= (p.His629=)
c.418C=
c.*61C= (n.*61C=)
c.1998C= (p.His666=)
6g.30897088C>GCA363137551DDR1c.1944C>G (p.His648Gln)
c.1833C>G (p.His611Gln)
c.1140C>G (p.His380Gln)
c.1506C>G (p.His502Gln)
c.*1001C>G (n.*1001C>G)
c.14C>G
c.1887C>G (p.His629Gln)
c.418C>G
c.*61C>G (n.*61C>G)
c.1998C>G (p.His666Gln)
dbSNP gnomAD v2 gnomAD v4
6g.30897088C>TCA449778451DDR1c.1944C>T (p.His648=)
c.1833C>T (p.His611=)
c.1140C>T (p.His380=)
c.1506C>T (p.His502=)
c.*1001C>T (n.*1001C>T)
c.14C>T
c.1887C>T (p.His629=)
c.418C>T
c.*61C>T (n.*61C>T)
c.1998C>T (p.His666=)
6g.30897089C>ACA363137554DDR1c.1945C>A (p.Pro649Thr)
c.1834C>A (p.Pro612Thr)
c.1141C>A (p.Pro381Thr)
c.1507C>A (p.Pro503Thr)
c.*1002C>A (n.*1002C>A)
c.15C>A
c.1888C>A (p.Pro630Thr)
c.419C>A
c.*62C>A (n.*62C>A)
c.1999C>A (p.Pro667Thr)
6g.30897089C>GCA363137556DDR1c.1945C>G (p.Pro649Ala)
c.1834C>G (p.Pro612Ala)
c.1141C>G (p.Pro381Ala)
c.1507C>G (p.Pro503Ala)
c.*1002C>G (n.*1002C>G)
c.15C>G
c.1888C>G (p.Pro630Ala)
c.419C>G
c.*62C>G (n.*62C>G)
c.1999C>G (p.Pro667Ala)
gnomAD v4
6g.30897089C>TCA363137559DDR1c.1945C>T (p.Pro649Ser)
c.1834C>T (p.Pro612Ser)
c.1141C>T (p.Pro381Ser)
c.1507C>T (p.Pro503Ser)
c.*1002C>T (n.*1002C>T)
c.15C>T
c.1888C>T (p.Pro630Ser)
c.419C>T
c.*62C>T (n.*62C>T)
c.1999C>T (p.Pro667Ser)
dbSNP
6g.30897090C>ACA363137568DDR1c.1946C>A (p.Pro649His)
c.1835C>A (p.Pro612His)
c.1142C>A (p.Pro381His)
c.1508C>A (p.Pro503His)
c.*1003C>A (n.*1003C>A)
c.16C>A
c.1889C>A (p.Pro630His)
c.420C>A
c.*63C>A (n.*63C>A)
c.2000C>A (p.Pro667His)
6g.30897090C>GCA363137566DDR1c.1946C>G (p.Pro649Arg)
c.1835C>G (p.Pro612Arg)
c.1142C>G (p.Pro381Arg)
c.1508C>G (p.Pro503Arg)
c.*1003C>G (n.*1003C>G)
c.16C>G
c.1889C>G (p.Pro630Arg)
c.420C>G
c.*63C>G (n.*63C>G)
c.2000C>G (p.Pro667Arg)
6g.30897090C>TCA363137563DDR1c.1946C>T (p.Pro649Leu)
c.1835C>T (p.Pro612Leu)
c.1142C>T (p.Pro381Leu)
c.1508C>T (p.Pro503Leu)
c.*1003C>T (n.*1003C>T)
c.16C>T
c.1889C>T (p.Pro630Leu)
c.420C>T
c.*63C>T (n.*63C>T)
c.2000C>T (p.Pro667Leu)
gnomAD v4
6g.30897091T>ACA449778454DDR1c.1947T>A (p.Pro649=)
c.1836T>A (p.Pro612=)
c.1143T>A (p.Pro381=)
c.1509T>A (p.Pro503=)
c.*1004T>A (n.*1004T>A)
c.17T>A
c.1890T>A (p.Pro630=)
c.421T>A
c.*64T>A (n.*64T>A)
c.2001T>A (p.Pro667=)
COSMIC COSMIC COSMIC COSMIC
6g.30897091T>CCA449778456DDR1c.1947T>C (p.Pro649=)
c.1836T>C (p.Pro612=)
c.1143T>C (p.Pro381=)
c.1509T>C (p.Pro503=)
c.*1004T>C (n.*1004T>C)
c.17T>C
c.1890T>C (p.Pro630=)
c.421T>C
c.*64T>C (n.*64T>C)
c.2001T>C (p.Pro667=)
gnomAD v4
6g.30897091T>GCA449778455DDR1c.1947T>G (p.Pro649=)
c.1836T>G (p.Pro612=)
c.1143T>G (p.Pro381=)
c.1509T>G (p.Pro503=)
c.*1004T>G (n.*1004T>G)
c.17T>G
c.1890T>G (p.Pro630=)
c.421T>G
c.*64T>G (n.*64T>G)
c.2001T>G (p.Pro667=)
6g.30897092T>ACA363137570DDR1c.1948T>A (p.Leu650Met)
c.1837T>A (p.Leu613Met)
c.1144T>A (p.Leu382Met)
c.1510T>A (p.Leu504Met)
c.*1005T>A (n.*1005T>A)
c.18T>A
c.1891T>A (p.Leu631Met)
c.422T>A
c.*65T>A (n.*65T>A)
c.2002T>A (p.Leu668Met)
gnomAD v4
6g.30897092T>CCA449778458DDR1c.1948T>C (p.Leu650=)
c.1837T>C (p.Leu613=)
c.1144T>C (p.Leu382=)
c.1510T>C (p.Leu504=)
c.*1005T>C (n.*1005T>C)
c.18T>C
c.1891T>C (p.Leu631=)
c.422T>C
c.*65T>C (n.*65T>C)
c.2002T>C (p.Leu668=)
dbSNP
6g.30897092T>GCA363137572DDR1c.1948T>G (p.Leu650Val)
c.1837T>G (p.Leu613Val)
c.1144T>G (p.Leu382Val)
c.1510T>G (p.Leu504Val)
c.*1005T>G (n.*1005T>G)
c.18T>G
c.1891T>G (p.Leu631Val)
c.422T>G
c.*65T>G (n.*65T>G)
c.2002T>G (p.Leu668Val)
6g.30897092T=CA1618917645DDR1c.1948T= (p.Leu650=)
c.1837T= (p.Leu613=)
c.1144T= (p.Leu382=)
c.1510T= (p.Leu504=)
c.*1005T= (n.*1005T=)
c.18T=
c.1891T= (p.Leu631=)
c.422T=
c.*65T= (n.*65T=)
c.2002T= (p.Leu668=)
6g.30897093T>ACA363137576DDR1c.1949T>A (p.Leu650Ter)
c.1838T>A (p.Leu613Ter)
c.1145T>A (p.Leu382Ter)
c.1511T>A (p.Leu504Ter)
c.*1006T>A (n.*1006T>A)
c.19T>A
c.1892T>A (p.Leu631Ter)
c.423T>A
c.*66T>A (n.*66T>A)
c.2003T>A (p.Leu668Ter)
6g.30897093T>CCA363137577DDR1c.1949T>C (p.Leu650Ser)
c.1838T>C (p.Leu613Ser)
c.1145T>C (p.Leu382Ser)
c.1511T>C (p.Leu504Ser)
c.*1006T>C (n.*1006T>C)
c.19T>C
c.1892T>C (p.Leu631Ser)
c.423T>C
c.*66T>C (n.*66T>C)
c.2003T>C (p.Leu668Ser)
6g.30897093T>GCA363137580DDR1c.1949T>G (p.Leu650Trp)
c.1838T>G (p.Leu613Trp)
c.1145T>G (p.Leu382Trp)
c.1511T>G (p.Leu504Trp)
c.*1006T>G (n.*1006T>G)
c.19T>G
c.1892T>G (p.Leu631Trp)
c.423T>G
c.*66T>G (n.*66T>G)
c.2003T>G (p.Leu668Trp)
6g.30897094G>ACA136787496DDR1c.1950G>A (p.Leu650=)
c.1839G>A (p.Leu613=)
c.1146G>A (p.Leu382=)
c.1512G>A (p.Leu504=)
c.*1007G>A (n.*1007G>A)
c.20G>A
c.1893G>A (p.Leu631=)
c.424G>A
c.*67G>A (n.*67G>A)
c.2004G>A (p.Leu668=)
dbSNP gnomAD v2 gnomAD v4
6g.30897094G>CCA363137584DDR1c.1950G>C (p.Leu650Phe)
c.1839G>C (p.Leu613Phe)
c.1146G>C (p.Leu382Phe)
c.1512G>C (p.Leu504Phe)
c.*1007G>C (n.*1007G>C)
c.20G>C
c.1893G>C (p.Leu631Phe)
c.424G>C
c.*67G>C (n.*67G>C)
c.2004G>C (p.Leu668Phe)
6g.30897094G=CA1618917646DDR1c.1950G= (p.Leu650=)
c.1839G= (p.Leu613=)
c.1146G= (p.Leu382=)
c.1512G= (p.Leu504=)
c.*1007G= (n.*1007G=)
c.20G=
c.1893G= (p.Leu631=)
c.424G=
c.*67G= (n.*67G=)
c.2004G= (p.Leu668=)
6g.30897094G>TCA363137586DDR1c.1950G>T (p.Leu650Phe)
c.1839G>T (p.Leu613Phe)
c.1146G>T (p.Leu382Phe)
c.1512G>T (p.Leu504Phe)
c.*1007G>T (n.*1007G>T)
c.20G>T
c.1893G>T (p.Leu631Phe)
c.424G>T
c.*67G>T (n.*67G>T)
c.2004G>T (p.Leu668Phe)
6g.30897095C>ACA363137589DDR1c.1951C>A (p.Leu651Met)
c.1840C>A (p.Leu614Met)
c.1147C>A (p.Leu383Met)
c.1513C>A (p.Leu505Met)
c.*1008C>A (n.*1008C>A)
c.21C>A
c.1894C>A (p.Leu632Met)
c.425C>A
c.*68C>A (n.*68C>A)
c.2005C>A (p.Leu669Met)
6g.30897095C=CA1618917647DDR1c.1951C= (p.Leu651=)
c.1840C= (p.Leu614=)
c.1147C= (p.Leu383=)
c.1513C= (p.Leu505=)
c.*1008C= (n.*1008C=)
c.21C=
c.1894C= (p.Leu632=)
c.425C=
c.*68C= (n.*68C=)
c.2005C= (p.Leu669=)
6g.30897095C>GCA363137592DDR1c.1951C>G (p.Leu651Val)
c.1840C>G (p.Leu614Val)
c.1147C>G (p.Leu383Val)
c.1513C>G (p.Leu505Val)
c.*1008C>G (n.*1008C>G)
c.21C>G
c.1894C>G (p.Leu632Val)
c.425C>G
c.*68C>G (n.*68C>G)
c.2005C>G (p.Leu669Val)
dbSNP
6g.30897095C>TCA449778460DDR1c.1951C>T (p.Leu651=)
c.1840C>T (p.Leu614=)
c.1147C>T (p.Leu383=)
c.1513C>T (p.Leu505=)
c.*1008C>T (n.*1008C>T)
c.21C>T
c.1894C>T (p.Leu632=)
c.425C>T
c.*68C>T (n.*68C>T)
c.2005C>T (p.Leu669=)
dbSNP gnomAD v2 gnomAD v4
6g.30897095_30897096delinsCTCA1618917648DDR1c.1951_1952delinsCT (p.Leu651=)
c.1840_1841delinsCT (p.Leu614=)
c.1147_1148delinsCT (p.Leu383=)
c.1513_1514delinsCT (p.Leu505=)
c.*1008_*1009delinsCT (n.*1008_*1009delinsCT)
c.21_22delinsCT
c.1894_1895delinsCT (p.Leu632=)
c.425_426delinsCT
c.*68_*69delinsCT (n.*68_*69delinsCT)
c.2005_2006delinsCT (p.Leu669=)
6g.30897096delCA566687278DDR1c.1952del (p.Leu651ArgfsTer2)
c.1841del (p.Leu614ArgfsTer2)
c.1148del (p.Leu383ArgfsTer2)
c.1514del (p.Leu505ArgfsTer2)
c.*1009del (n.*1009del)
c.22del
c.1895del (p.Leu632ArgfsTer2)
c.426del
c.*69del (n.*69del)
c.2006del (p.Leu669ArgfsTer2)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30897096T>ACA363137595DDR1c.1952T>A (p.Leu651Gln)
c.1841T>A (p.Leu614Gln)
c.1148T>A (p.Leu383Gln)
c.1514T>A (p.Leu505Gln)
c.*1009T>A (n.*1009T>A)
c.22T>A
c.1895T>A (p.Leu632Gln)
c.426T>A
c.*69T>A (n.*69T>A)
c.2006T>A (p.Leu669Gln)
6g.30897096T>CCA363137597DDR1c.1952T>C (p.Leu651Pro)
c.1841T>C (p.Leu614Pro)
c.1148T>C (p.Leu383Pro)
c.1514T>C (p.Leu505Pro)
c.*1009T>C (n.*1009T>C)
c.22T>C
c.1895T>C (p.Leu632Pro)
c.426T>C
c.*69T>C (n.*69T>C)
c.2006T>C (p.Leu669Pro)
6g.30897096T>GCA363137598DDR1c.1952T>G (p.Leu651Arg)
c.1841T>G (p.Leu614Arg)
c.1148T>G (p.Leu383Arg)
c.1514T>G (p.Leu505Arg)
c.*1009T>G (n.*1009T>G)
c.22T>G
c.1895T>G (p.Leu632Arg)
c.426T>G
c.*69T>G (n.*69T>G)
c.2006T>G (p.Leu669Arg)
6g.30897097G>ACA449778467DDR1c.1953G>A (p.Leu651=)
c.1842G>A (p.Leu614=)
c.1149G>A (p.Leu383=)
c.1515G>A (p.Leu505=)
c.*1010G>A (n.*1010G>A)
c.23G>A
c.1896G>A (p.Leu632=)
c.427G>A
c.*70G>A (n.*70G>A)
c.2007G>A (p.Leu669=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30897097G>CCA449778469DDR1c.1953G>C (p.Leu651=)
c.1842G>C (p.Leu614=)
c.1149G>C (p.Leu383=)
c.1515G>C (p.Leu505=)
c.*1010G>C (n.*1010G>C)
c.23G>C
c.1896G>C (p.Leu632=)
c.427G>C
c.*70G>C (n.*70G>C)
c.2007G>C (p.Leu669=)
6g.30897097G=CA1618917649DDR1c.1953G= (p.Leu651=)
c.1842G= (p.Leu614=)
c.1149G= (p.Leu383=)
c.1515G= (p.Leu505=)
c.*1010G= (n.*1010G=)
c.23G=
c.1896G= (p.Leu632=)
c.427G=
c.*70G= (n.*70G=)
c.2007G= (p.Leu669=)
6g.30897097G>TCA449778470DDR1c.1953G>T (p.Leu651=)
c.1842G>T (p.Leu614=)
c.1149G>T (p.Leu383=)
c.1515G>T (p.Leu505=)
c.*1010G>T (n.*1010G>T)
c.23G>T
c.1896G>T (p.Leu632=)
c.427G>T
c.*70G>T (n.*70G>T)
c.2007G>T (p.Leu669=)
6g.30897098G>ACA363137606DDR1c.1954G>A (p.Val652Ile)
c.1843G>A (p.Val615Ile)
c.1150G>A (p.Val384Ile)
c.1516G>A (p.Val506Ile)
c.*1011G>A (n.*1011G>A)
c.24G>A
c.1897G>A (p.Val633Ile)
c.428G>A
c.*71G>A (n.*71G>A)
c.2008G>A (p.Val670Ile)
6g.30897098G>CCA363137603DDR1c.1954G>C (p.Val652Leu)
c.1843G>C (p.Val615Leu)
c.1150G>C (p.Val384Leu)
c.1516G>C (p.Val506Leu)
c.*1011G>C (n.*1011G>C)
c.24G>C
c.1897G>C (p.Val633Leu)
c.428G>C
c.*71G>C (n.*71G>C)
c.2008G>C (p.Val670Leu)
6g.30897098G>TCA363137601DDR1c.1954G>T (p.Val652Leu)
c.1843G>T (p.Val615Leu)
c.1150G>T (p.Val384Leu)
c.1516G>T (p.Val506Leu)
c.*1011G>T (n.*1011G>T)
c.24G>T
c.1897G>T (p.Val633Leu)
c.428G>T
c.*71G>T (n.*71G>T)
c.2008G>T (p.Val670Leu)
6g.30897099T>ACA363137609DDR1c.1955T>A (p.Val652Glu)
c.1844T>A (p.Val615Glu)
c.1151T>A (p.Val384Glu)
c.1517T>A (p.Val506Glu)
c.*1012T>A (n.*1012T>A)
c.25T>A
c.1898T>A (p.Val633Glu)
c.429T>A
c.*72T>A (n.*72T>A)
c.2009T>A (p.Val670Glu)
6g.30897099T>CCA363137612DDR1c.1955T>C (p.Val652Ala)
c.1844T>C (p.Val615Ala)
c.1151T>C (p.Val384Ala)
c.1517T>C (p.Val506Ala)
c.*1012T>C (n.*1012T>C)
c.25T>C
c.1898T>C (p.Val633Ala)
c.429T>C
c.*72T>C (n.*72T>C)
c.2009T>C (p.Val670Ala)
gnomAD v4
6g.30897099T>GCA363137614DDR1c.1955T>G (p.Val652Gly)
c.1844T>G (p.Val615Gly)
c.1151T>G (p.Val384Gly)
c.1517T>G (p.Val506Gly)
c.*1012T>G (n.*1012T>G)
c.25T>G
c.1898T>G (p.Val633Gly)
c.429T>G
c.*72T>G (n.*72T>G)
c.2009T>G (p.Val670Gly)
6g.30897100A>CCA449778749DDR1c.1956A>C (p.Val652=)
c.1845A>C (p.Val615=)
c.1152A>C (p.Val384=)
c.1518A>C (p.Val506=)
c.*1013A>C (n.*1013A>C)
c.26A>C
c.1899A>C (p.Val633=)
c.430A>C
c.*73A>C (n.*73A>C)
c.2010A>C (p.Val670=)
6g.30897100A>GCA449778750DDR1c.1956A>G (p.Val652=)
c.1845A>G (p.Val615=)
c.1152A>G (p.Val384=)
c.1518A>G (p.Val506=)
c.*1013A>G (n.*1013A>G)
c.26A>G
c.1899A>G (p.Val633=)
c.430A>G
c.*73A>G (n.*73A>G)
c.2010A>G (p.Val670=)
6g.30897100A>TCA449778751DDR1c.1956A>T (p.Val652=)
c.1845A>T (p.Val615=)
c.1152A>T (p.Val384=)
c.1518A>T (p.Val506=)
c.*1013A>T (n.*1013A>T)
c.26A>T
c.1899A>T (p.Val633=)
c.430A>T
c.*73A>T (n.*73A>T)
c.2010A>T (p.Val670=)
6g.30897101G>ACA363137617DDR1c.1957G>A (p.Ala653Thr)
c.1846G>A (p.Ala616Thr)
c.1153G>A (p.Ala385Thr)
c.1519G>A (p.Ala507Thr)
c.*1014G>A (n.*1014G>A)
c.27G>A
c.1900G>A (p.Ala634Thr)
c.431G>A
c.*74G>A (n.*74G>A)
c.2011G>A (p.Ala671Thr)
6g.30897101G>CCA363137620DDR1c.1957G>C (p.Ala653Pro)
c.1846G>C (p.Ala616Pro)
c.1153G>C (p.Ala385Pro)
c.1519G>C (p.Ala507Pro)
c.*1014G>C (n.*1014G>C)
c.27G>C
c.1900G>C (p.Ala634Pro)
c.431G>C
c.*74G>C (n.*74G>C)
c.2011G>C (p.Ala671Pro)
6g.30897101G>TCA363137621DDR1c.1957G>T (p.Ala653Ser)
c.1846G>T (p.Ala616Ser)
c.1153G>T (p.Ala385Ser)
c.1519G>T (p.Ala507Ser)
c.*1014G>T (n.*1014G>T)
c.27G>T
c.1900G>T (p.Ala634Ser)
c.431G>T
c.*74G>T (n.*74G>T)
c.2011G>T (p.Ala671Ser)
6g.30897102C>ACA363137625DDR1c.1958C>A (p.Ala653Asp)
c.1847C>A (p.Ala616Asp)
c.1154C>A (p.Ala385Asp)
c.1520C>A (p.Ala507Asp)
c.*1015C>A (n.*1015C>A)
c.28C>A
c.1901C>A (p.Ala634Asp)
c.432C>A
c.*75C>A (n.*75C>A)
c.2012C>A (p.Ala671Asp)
6g.30897102C>GCA363137627DDR1c.1958C>G (p.Ala653Gly)
c.1847C>G (p.Ala616Gly)
c.1154C>G (p.Ala385Gly)
c.1520C>G (p.Ala507Gly)
c.*1015C>G (n.*1015C>G)
c.28C>G
c.1901C>G (p.Ala634Gly)
c.432C>G
c.*75C>G (n.*75C>G)
c.2012C>G (p.Ala671Gly)
dbSNP
6g.30897102C>TCA363137630DDR1c.1958C>T (p.Ala653Val)
c.1847C>T (p.Ala616Val)
c.1154C>T (p.Ala385Val)
c.1520C>T (p.Ala507Val)
c.*1015C>T (n.*1015C>T)
c.28C>T
c.1901C>T (p.Ala634Val)
c.432C>T
c.*75C>T (n.*75C>T)
c.2012C>T (p.Ala671Val)
6g.30897103T>ACA449778752DDR1c.1959T>A (p.Ala653=)
c.1848T>A (p.Ala616=)
c.1155T>A (p.Ala385=)
c.1521T>A (p.Ala507=)
c.*1016T>A (n.*1016T>A)
c.29T>A
c.1902T>A (p.Ala634=)
c.433T>A
c.*76T>A (n.*76T>A)
c.2013T>A (p.Ala671=)
6g.30897103T>CCA449778753DDR1c.1959T>C (p.Ala653=)
c.1848T>C (p.Ala616=)
c.1155T>C (p.Ala385=)
c.1521T>C (p.Ala507=)
c.*1016T>C (n.*1016T>C)
c.29T>C
c.1902T>C (p.Ala634=)
c.433T>C
c.*76T>C (n.*76T>C)
c.2013T>C (p.Ala671=)
6g.30897103T>GCA449778754DDR1c.1959T>G (p.Ala653=)
c.1848T>G (p.Ala616=)
c.1155T>G (p.Ala385=)
c.1521T>G (p.Ala507=)
c.*1016T>G (n.*1016T>G)
c.29T>G
c.1902T>G (p.Ala634=)
c.433T>G
c.*76T>G (n.*76T>G)
c.2013T>G (p.Ala671=)
6g.30897104G>ACA363137633DDR1c.1960G>A (p.Val654Ile)
c.1849G>A (p.Val617Ile)
c.1156G>A (p.Val386Ile)
c.1522G>A (p.Val508Ile)
c.*1017G>A (n.*1017G>A)
c.30G>A
c.1903G>A (p.Val635Ile)
c.434G>A
c.*77G>A (n.*77G>A)
c.2014G>A (p.Val672Ile)
dbSNP
6g.30897104G>CCA363137635DDR1c.1960G>C (p.Val654Leu)
c.1849G>C (p.Val617Leu)
c.1156G>C (p.Val386Leu)
c.1522G>C (p.Val508Leu)
c.*1017G>C (n.*1017G>C)
c.30G>C
c.1903G>C (p.Val635Leu)
c.434G>C
c.*77G>C (n.*77G>C)
c.2014G>C (p.Val672Leu)
6g.30897104G>TCA363137636DDR1c.1960G>T (p.Val654Phe)
c.1849G>T (p.Val617Phe)
c.1156G>T (p.Val386Phe)
c.1522G>T (p.Val508Phe)
c.*1017G>T (n.*1017G>T)
c.30G>T
c.1903G>T (p.Val635Phe)
c.434G>T
c.*77G>T (n.*77G>T)
c.2014G>T (p.Val672Phe)
6g.30897105T>ACA363137641DDR1c.1961T>A (p.Val654Asp)
c.1850T>A (p.Val617Asp)
c.1157T>A (p.Val386Asp)
c.1523T>A (p.Val508Asp)
c.*1018T>A (n.*1018T>A)
c.31T>A
c.1904T>A (p.Val635Asp)
c.435T>A
c.*78T>A (n.*78T>A)
c.2015T>A (p.Val672Asp)
dbSNP
6g.30897105T>CCA363137644DDR1c.1961T>C (p.Val654Ala)
c.1850T>C (p.Val617Ala)
c.1157T>C (p.Val386Ala)
c.1523T>C (p.Val508Ala)
c.*1018T>C (n.*1018T>C)
c.31T>C
c.1904T>C (p.Val635Ala)
c.435T>C
c.*78T>C (n.*78T>C)
c.2015T>C (p.Val672Ala)
6g.30897105T>GCA363137639DDR1c.1961T>G (p.Val654Gly)
c.1850T>G (p.Val617Gly)
c.1157T>G (p.Val386Gly)
c.1523T>G (p.Val508Gly)
c.*1018T>G (n.*1018T>G)
c.31T>G
c.1904T>G (p.Val635Gly)
c.435T>G
c.*78T>G (n.*78T>G)
c.2015T>G (p.Val672Gly)
6g.30897105_30897119delinsTCAAGATCTTACGGCCA1618917650DDR1c.1961_1975delinsTCAAGATCTTACGGC (p.Val654=)
c.1850_1864delinsTCAAGATCTTACGGC (p.Val617=)
c.1157_1171delinsTCAAGATCTTACGGC (p.Val386=)
c.1523_1537delinsTCAAGATCTTACGGC (p.Val508=)
c.*1018_*1032delinsTCAAGATCTTACGGC (n.*1018_*1032delinsTCAAGATCTTACGGC)
c.31_45delinsTCAAGATCTTACGGC
c.1904_1918delinsTCAAGATCTTACGGC (p.Val635=)
c.435_449delinsTCAAGATCTTACGGC
c.*78_*92delinsTCAAGATCTTACGGC (n.*78_*92delinsTCAAGATCTTACGGC)
c.2015_2029delinsTCAAGATCTTACGGC (p.Val672=)
6g.30897106C>ACA449778755DDR1c.1962C>A (p.Val654=)
c.1851C>A (p.Val617=)
c.1158C>A (p.Val386=)
c.1524C>A (p.Val508=)
c.*1019C>A (n.*1019C>A)
c.32C>A
c.1905C>A (p.Val635=)
c.436C>A
c.*79C>A (n.*79C>A)
c.2016C>A (p.Val672=)
6g.30897106C=CA1618917652DDR1c.1962C= (p.Val654=)
c.1851C= (p.Val617=)
c.1158C= (p.Val386=)
c.1524C= (p.Val508=)
c.*1019C= (n.*1019C=)
c.32C=
c.1905C= (p.Val635=)
c.436C=
c.*79C= (n.*79C=)
c.2016C= (p.Val672=)
6g.30897106C>GCA3704738DDR1c.1962C>G (p.Val654=)
c.1851C>G (p.Val617=)
c.1158C>G (p.Val386=)
c.1524C>G (p.Val508=)
c.*1019C>G (n.*1019C>G)
c.32C>G
c.1905C>G (p.Val635=)
c.436C>G
c.*79C>G (n.*79C>G)
c.2016C>G (p.Val672=)
dbSNP ExAC gnomAD v2
6g.30897106C>TCA3704737DDR1c.1962C>T (p.Val654=)
c.1851C>T (p.Val617=)
c.1158C>T (p.Val386=)
c.1524C>T (p.Val508=)
c.*1019C>T (n.*1019C>T)
c.32C>T
c.1905C>T (p.Val635=)
c.436C>T
c.*79C>T (n.*79C>T)
c.2016C>T (p.Val672=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897108_30897121delCA1618917651DDR1c.1964_1977del (p.Lys655ArgfsTer9)
c.1853_1866del (p.Lys618ArgfsTer9)
c.1160_1173del (p.Lys387ArgfsTer9)
c.1526_1539del (p.Lys509ArgfsTer9)
c.*1021_*1034del (n.*1021_*1034del)
c.34_47del
c.1907_1920del (p.Lys636ArgfsTer9)
c.1964_1977del (p.Lys655ArgfsTer15)
c.438_451del
c.*81_*94del (n.*81_*94del)
c.2018_2031del (p.Lys673ArgfsTer9)
c.2018_2031del (p.Lys673ArgfsTer15)
c.1907_1920del (p.Lys636ArgfsTer15)
c.1853_1866del (p.Lys618ArgfsTer15)
dbSNP
6g.30897107A>CCA363137649DDR1c.1963A>C (p.Lys655Gln)
c.1852A>C (p.Lys618Gln)
c.1159A>C (p.Lys387Gln)
c.1525A>C (p.Lys509Gln)
c.*1020A>C (n.*1020A>C)
c.33A>C
c.1906A>C (p.Lys636Gln)
c.437A>C
c.*80A>C (n.*80A>C)
c.2017A>C (p.Lys673Gln)
6g.30897107A>GCA363137652DDR1c.1963A>G (p.Lys655Glu)
c.1852A>G (p.Lys618Glu)
c.1159A>G (p.Lys387Glu)
c.1525A>G (p.Lys509Glu)
c.*1020A>G (n.*1020A>G)
c.33A>G
c.1906A>G (p.Lys636Glu)
c.437A>G
c.*80A>G (n.*80A>G)
c.2017A>G (p.Lys673Glu)
6g.30897107A>TCA363137653DDR1c.1963A>T (p.Lys655Ter)
c.1852A>T (p.Lys618Ter)
c.1159A>T (p.Lys387Ter)
c.1525A>T (p.Lys509Ter)
c.*1020A>T (n.*1020A>T)
c.33A>T
c.1906A>T (p.Lys636Ter)
c.437A>T
c.*80A>T (n.*80A>T)
c.2017A>T (p.Lys673Ter)
6g.30897108A>CCA363137657DDR1c.1964A>C (p.Lys655Thr)
c.1853A>C (p.Lys618Thr)
c.1160A>C (p.Lys387Thr)
c.1526A>C (p.Lys509Thr)
c.*1021A>C (n.*1021A>C)
c.34A>C
c.1907A>C (p.Lys636Thr)
c.438A>C
c.*81A>C (n.*81A>C)
c.2018A>C (p.Lys673Thr)
6g.30897108A>GCA363137659DDR1c.1964A>G (p.Lys655Arg)
c.1853A>G (p.Lys618Arg)
c.1160A>G (p.Lys387Arg)
c.1526A>G (p.Lys509Arg)
c.*1021A>G (n.*1021A>G)
c.34A>G
c.1907A>G (p.Lys636Arg)
c.438A>G
c.*81A>G (n.*81A>G)
c.2018A>G (p.Lys673Arg)
6g.30897108A>TCA363137660DDR1c.1964A>T (p.Lys655Met)
c.1853A>T (p.Lys618Met)
c.1160A>T (p.Lys387Met)
c.1526A>T (p.Lys509Met)
c.*1021A>T (n.*1021A>T)
c.34A>T
c.1907A>T (p.Lys636Met)
c.438A>T
c.*81A>T (n.*81A>T)
c.2018A>T (p.Lys673Met)
6g.30897109G>ACA449778756DDR1c.1965G>A (p.Lys655=)
c.1854G>A (p.Lys618=)
c.1161G>A (p.Lys387=)
c.1527G>A (p.Lys509=)
c.*1022G>A (n.*1022G>A)
c.35G>A
c.1908G>A (p.Lys636=)
c.439G>A
c.*82G>A (n.*82G>A)
c.2019G>A (p.Lys673=)
6g.30897109G>CCA363137661DDR1c.1965G>C (p.Lys655Asn)
c.1854G>C (p.Lys618Asn)
c.1161G>C (p.Lys387Asn)
c.1527G>C (p.Lys509Asn)
c.*1022G>C (n.*1022G>C)
c.35G>C
c.1908G>C (p.Lys636Asn)
c.439G>C
c.*82G>C (n.*82G>C)
c.2019G>C (p.Lys673Asn)
6g.30897109G>TCA363137663DDR1c.1965G>T (p.Lys655Asn)
c.1854G>T (p.Lys618Asn)
c.1161G>T (p.Lys387Asn)
c.1527G>T (p.Lys509Asn)
c.*1022G>T (n.*1022G>T)
c.35G>T
c.1908G>T (p.Lys636Asn)
c.439G>T
c.*82G>T (n.*82G>T)
c.2019G>T (p.Lys673Asn)
6g.30897110A=CA1618917653DDR1c.1966A= (p.Ile656=)
c.1855A= (p.Ile619=)
c.1162A= (p.Ile388=)
c.1528A= (p.Ile510=)
c.*1023A= (n.*1023A=)
c.36A=
c.1909A= (p.Ile637=)
c.440A=
c.*83A= (n.*83A=)
c.2020A= (p.Ile674=)
6g.30897110A>CCA363137666DDR1c.1966A>C (p.Ile656Leu)
c.1855A>C (p.Ile619Leu)
c.1162A>C (p.Ile388Leu)
c.1528A>C (p.Ile510Leu)
c.*1023A>C (n.*1023A>C)
c.36A>C
c.1909A>C (p.Ile637Leu)
c.440A>C
c.*83A>C (n.*83A>C)
c.2020A>C (p.Ile674Leu)
dbSNP
6g.30897110A>GCA363137668DDR1c.1966A>G (p.Ile656Val)
c.1855A>G (p.Ile619Val)
c.1162A>G (p.Ile388Val)
c.1528A>G (p.Ile510Val)
c.*1023A>G (n.*1023A>G)
c.36A>G
c.1909A>G (p.Ile637Val)
c.440A>G
c.*83A>G (n.*83A>G)
c.2020A>G (p.Ile674Val)
6g.30897110A>TCA363137669DDR1c.1966A>T (p.Ile656Phe)
c.1855A>T (p.Ile619Phe)
c.1162A>T (p.Ile388Phe)
c.1528A>T (p.Ile510Phe)
c.*1023A>T (n.*1023A>T)
c.36A>T
c.1909A>T (p.Ile637Phe)
c.440A>T
c.*83A>T (n.*83A>T)
c.2020A>T (p.Ile674Phe)
6g.30897111T>ACA363137678DDR1c.1967T>A (p.Ile656Asn)
c.1856T>A (p.Ile619Asn)
c.1163T>A (p.Ile388Asn)
c.1529T>A (p.Ile510Asn)
c.*1024T>A (n.*1024T>A)
c.37T>A
c.1910T>A (p.Ile637Asn)
c.441T>A
c.*84T>A (n.*84T>A)
c.2021T>A (p.Ile674Asn)
6g.30897111T>CCA363137675DDR1c.1967T>C (p.Ile656Thr)
c.1856T>C (p.Ile619Thr)
c.1163T>C (p.Ile388Thr)
c.1529T>C (p.Ile510Thr)
c.*1024T>C (n.*1024T>C)
c.37T>C
c.1910T>C (p.Ile637Thr)
c.441T>C
c.*84T>C (n.*84T>C)
c.2021T>C (p.Ile674Thr)
dbSNP gnomAD v3 gnomAD v4
6g.30897111T>GCA363137673DDR1c.1967T>G (p.Ile656Ser)
c.1856T>G (p.Ile619Ser)
c.1163T>G (p.Ile388Ser)
c.1529T>G (p.Ile510Ser)
c.*1024T>G (n.*1024T>G)
c.37T>G
c.1910T>G (p.Ile637Ser)
c.441T>G
c.*84T>G (n.*84T>G)
c.2021T>G (p.Ile674Ser)
6g.30897111T=CA1618917654DDR1c.1967T= (p.Ile656=)
c.1856T= (p.Ile619=)
c.1163T= (p.Ile388=)
c.1529T= (p.Ile510=)
c.*1024T= (n.*1024T=)
c.37T=
c.1910T= (p.Ile637=)
c.441T=
c.*84T= (n.*84T=)
c.2021T= (p.Ile674=)

Number of alleles fetched