Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.189894213C>ACA355751116TP63c.1754C>A (p.Ala585Glu)
c.1472C>A (p.Ala491Glu)
c.1515C>A (p.Gly505=)
c.1660C>A (p.Gln554Lys)
c.1233C>A (p.Gly411=)
c.1378C>A (p.Gln460Lys)
c.1742C>A (p.Ala581Glu)
c.1217C>A (p.Ala406Glu)
c.1460C>A (p.Ala487Glu)
c.1703C>A (p.Ala568Glu)
c.1751C>A (p.Ala584Glu)
c.1748C>A (p.Ala583Glu)
c.1715C>A (p.Ala572Glu)
c.1221C>A (p.Gly407=)
c.966C>A (p.Gly322=)
 dbSNP
3g.189894213C>GCA355751117TP63c.1754C>G (p.Ala585Gly)
c.1472C>G (p.Ala491Gly)
c.1515C>G (p.Gly505=)
c.1660C>G (p.Gln554Glu)
c.1233C>G (p.Gly411=)
c.1378C>G (p.Gln460Glu)
c.1742C>G (p.Ala581Gly)
c.1217C>G (p.Ala406Gly)
c.1460C>G (p.Ala487Gly)
c.1703C>G (p.Ala568Gly)
c.1751C>G (p.Ala584Gly)
c.1748C>G (p.Ala583Gly)
c.1715C>G (p.Ala572Gly)
c.1221C>G (p.Gly407=)
c.966C>G (p.Gly322=)
 dbSNP
3g.189894213C>TCA355751118TP63c.1754C>T (p.Ala585Val)
c.1472C>T (p.Ala491Val)
c.1515C>T (p.Gly505=)
c.1660C>T (p.Gln554Ter)
c.1233C>T (p.Gly411=)
c.1378C>T (p.Gln460Ter)
c.1742C>T (p.Ala581Val)
c.1217C>T (p.Ala406Val)
c.1460C>T (p.Ala487Val)
c.1703C>T (p.Ala568Val)
c.1751C>T (p.Ala584Val)
c.1748C>T (p.Ala583Val)
c.1715C>T (p.Ala572Val)
c.1221C>T (p.Gly407=)
c.966C>T (p.Gly322=)
 dbSNP gnomAD v4
3g.189894214A>CCA355751119TP63c.1755A>C (p.Ala585=)
c.1473A>C (p.Ala491=)
c.1516A>C (p.Lys506Gln)
c.1661A>C (p.Gln554Pro)
c.1234A>C (p.Lys412Gln)
c.1379A>C (p.Gln460Pro)
c.1743A>C (p.Ala581=)
c.1218A>C (p.Ala406=)
c.1461A>C (p.Ala487=)
c.1704A>C (p.Ala568=)
c.1752A>C (p.Ala584=)
c.1749A>C (p.Ala583=)
c.1716A>C (p.Ala572=)
c.1222A>C (p.Lys408Gln)
c.967A>C (p.Lys323Gln)
3g.189894214A>GCA355751121TP63c.1755A>G (p.Ala585=)
c.1473A>G (p.Ala491=)
c.1516A>G (p.Lys506Glu)
c.1661A>G (p.Gln554Arg)
c.1234A>G (p.Lys412Glu)
c.1379A>G (p.Gln460Arg)
c.1743A>G (p.Ala581=)
c.1218A>G (p.Ala406=)
c.1461A>G (p.Ala487=)
c.1704A>G (p.Ala568=)
c.1752A>G (p.Ala584=)
c.1749A>G (p.Ala583=)
c.1716A>G (p.Ala572=)
c.1222A>G (p.Lys408Glu)
c.967A>G (p.Lys323Glu)
 gnomAD v4
3g.189894214A>TCA355751120TP63c.1755A>T (p.Ala585=)
c.1473A>T (p.Ala491=)
c.1516A>T (p.Lys506Ter)
c.1661A>T (p.Gln554Leu)
c.1234A>T (p.Lys412Ter)
c.1379A>T (p.Gln460Leu)
c.1743A>T (p.Ala581=)
c.1218A>T (p.Ala406=)
c.1461A>T (p.Ala487=)
c.1704A>T (p.Ala568=)
c.1752A>T (p.Ala584=)
c.1749A>T (p.Ala583=)
c.1716A>T (p.Ala572=)
c.1222A>T (p.Lys408Ter)
c.967A>T (p.Lys323Ter)
3g.189894215A>CCA355751122TP63c.1756A>C (p.Ser586Arg)
c.1474A>C (p.Ser492Arg)
c.1517A>C (p.Lys506Thr)
c.1662A>C (p.Gln554His)
c.1235A>C (p.Lys412Thr)
c.1380A>C (p.Gln460His)
c.1744A>C (p.Ser582Arg)
c.1219A>C (p.Ser407Arg)
c.1462A>C (p.Ser488Arg)
c.1705A>C (p.Ser569Arg)
c.1753A>C (p.Ser585Arg)
c.1750A>C (p.Ser584Arg)
c.1717A>C (p.Ser573Arg)
c.1223A>C (p.Lys408Thr)
c.968A>C (p.Lys323Thr)
3g.189894215A>GCA355751123TP63c.1756A>G (p.Ser586Gly)
c.1474A>G (p.Ser492Gly)
c.1517A>G (p.Lys506Arg)
c.1662A>G (p.Gln554=)
c.1235A>G (p.Lys412Arg)
c.1380A>G (p.Gln460=)
c.1744A>G (p.Ser582Gly)
c.1219A>G (p.Ser407Gly)
c.1462A>G (p.Ser488Gly)
c.1705A>G (p.Ser569Gly)
c.1753A>G (p.Ser585Gly)
c.1750A>G (p.Ser584Gly)
c.1717A>G (p.Ser573Gly)
c.1223A>G (p.Lys408Arg)
c.968A>G (p.Lys323Arg)
3g.189894215A>TCA355751124TP63c.1756A>T (p.Ser586Cys)
c.1474A>T (p.Ser492Cys)
c.1517A>T (p.Lys506Met)
c.1662A>T (p.Gln554His)
c.1235A>T (p.Lys412Met)
c.1380A>T (p.Gln460His)
c.1744A>T (p.Ser582Cys)
c.1219A>T (p.Ser407Cys)
c.1462A>T (p.Ser488Cys)
c.1705A>T (p.Ser569Cys)
c.1753A>T (p.Ser585Cys)
c.1750A>T (p.Ser584Cys)
c.1717A>T (p.Ser573Cys)
c.1223A>T (p.Lys408Met)
c.968A>T (p.Lys323Met)
3g.189894216G>ACA355751125TP63c.1757G>A (p.Ser586Asn)
c.1475G>A (p.Ser492Asn)
c.1518G>A (p.Lys506=)
c.1663G>A (p.Val555Ile)
c.1236G>A (p.Lys412=)
c.1381G>A (p.Val461Ile)
c.1745G>A (p.Ser582Asn)
c.1220G>A (p.Ser407Asn)
c.1463G>A (p.Ser488Asn)
c.1706G>A (p.Ser569Asn)
c.1754G>A (p.Ser585Asn)
c.1751G>A (p.Ser584Asn)
c.1718G>A (p.Ser573Asn)
c.1224G>A (p.Lys408=)
c.969G>A (p.Lys323=)
 dbSNP
3g.189894216G>CCA355751126TP63c.1757G>C (p.Ser586Thr)
c.1475G>C (p.Ser492Thr)
c.1518G>C (p.Lys506Asn)
c.1663G>C (p.Val555Leu)
c.1236G>C (p.Lys412Asn)
c.1381G>C (p.Val461Leu)
c.1745G>C (p.Ser582Thr)
c.1220G>C (p.Ser407Thr)
c.1463G>C (p.Ser488Thr)
c.1706G>C (p.Ser569Thr)
c.1754G>C (p.Ser585Thr)
c.1751G>C (p.Ser584Thr)
c.1718G>C (p.Ser573Thr)
c.1224G>C (p.Lys408Asn)
c.969G>C (p.Lys323Asn)
 dbSNP
3g.189894216G>TCA355751127TP63c.1757G>T (p.Ser586Ile)
c.1475G>T (p.Ser492Ile)
c.1518G>T (p.Lys506Asn)
c.1663G>T (p.Val555Phe)
c.1236G>T (p.Lys412Asn)
c.1381G>T (p.Val461Phe)
c.1745G>T (p.Ser582Ile)
c.1220G>T (p.Ser407Ile)
c.1463G>T (p.Ser488Ile)
c.1706G>T (p.Ser569Ile)
c.1754G>T (p.Ser585Ile)
c.1751G>T (p.Ser584Ile)
c.1718G>T (p.Ser573Ile)
c.1224G>T (p.Lys408Asn)
c.969G>T (p.Lys323Asn)
 gnomAD v4
3g.189894217T>ACA355751128TP63c.1758T>A (p.Ser586Arg)
c.1476T>A (p.Ser492Arg)
c.1519T>A (p.Ser507Thr)
c.1664T>A (p.Val555Asp)
c.1237T>A (p.Ser413Thr)
c.1382T>A (p.Val461Asp)
c.1746T>A (p.Ser582Arg)
c.1221T>A (p.Ser407Arg)
c.1464T>A (p.Ser488Arg)
c.1707T>A (p.Ser569Arg)
c.1755T>A (p.Ser585Arg)
c.1752T>A (p.Ser584Arg)
c.1719T>A (p.Ser573Arg)
c.1225T>A (p.Ser409Thr)
c.970T>A (p.Ser324Thr)
 dbSNP
3g.189894217T>CCA355751129TP63c.1758T>C (p.Ser586=)
c.1476T>C (p.Ser492=)
c.1519T>C (p.Ser507Pro)
c.1664T>C (p.Val555Ala)
c.1237T>C (p.Ser413Pro)
c.1382T>C (p.Val461Ala)
c.1746T>C (p.Ser582=)
c.1221T>C (p.Ser407=)
c.1464T>C (p.Ser488=)
c.1707T>C (p.Ser569=)
c.1755T>C (p.Ser585=)
c.1752T>C (p.Ser584=)
c.1719T>C (p.Ser573=)
c.1225T>C (p.Ser409Pro)
c.970T>C (p.Ser324Pro)
3g.189894217T>GCA355751130TP63c.1758T>G (p.Ser586Arg)
c.1476T>G (p.Ser492Arg)
c.1519T>G (p.Ser507Ala)
c.1664T>G (p.Val555Gly)
c.1237T>G (p.Ser413Ala)
c.1382T>G (p.Val461Gly)
c.1746T>G (p.Ser582Arg)
c.1221T>G (p.Ser407Arg)
c.1464T>G (p.Ser488Arg)
c.1707T>G (p.Ser569Arg)
c.1755T>G (p.Ser585Arg)
c.1752T>G (p.Ser584Arg)
c.1719T>G (p.Ser573Arg)
c.1225T>G (p.Ser409Ala)
c.970T>G (p.Ser324Ala)
 dbSNP
3g.189894218C>ACA355751132TP63c.1759C>A (p.Leu587Met)
c.1477C>A (p.Leu493Met)
c.1520C>A (p.Ser507Tyr)
c.1665C>A (p.Val555=)
c.1238C>A (p.Ser413Tyr)
c.1383C>A (p.Val461=)
c.1747C>A (p.Leu583Met)
c.1222C>A (p.Leu408Met)
c.1465C>A (p.Leu489Met)
c.1708C>A (p.Leu570Met)
c.1756C>A (p.Leu586Met)
c.1753C>A (p.Leu585Met)
c.1720C>A (p.Leu574Met)
c.1226C>A (p.Ser409Tyr)
c.971C>A (p.Ser324Tyr)
3g.189894218C>GCA355751133TP63c.1759C>G (p.Leu587Val)
c.1477C>G (p.Leu493Val)
c.1520C>G (p.Ser507Cys)
c.1665C>G (p.Val555=)
c.1238C>G (p.Ser413Cys)
c.1383C>G (p.Val461=)
c.1747C>G (p.Leu583Val)
c.1222C>G (p.Leu408Val)
c.1465C>G (p.Leu489Val)
c.1708C>G (p.Leu570Val)
c.1756C>G (p.Leu586Val)
c.1753C>G (p.Leu585Val)
c.1720C>G (p.Leu574Val)
c.1226C>G (p.Ser409Cys)
c.971C>G (p.Ser324Cys)
 dbSNP
3g.189894218C>TCA355751131TP63c.1759C>T (p.Leu587=)
c.1477C>T (p.Leu493=)
c.1520C>T (p.Ser507Phe)
c.1665C>T (p.Val555=)
c.1238C>T (p.Ser413Phe)
c.1383C>T (p.Val461=)
c.1747C>T (p.Leu583=)
c.1222C>T (p.Leu408=)
c.1465C>T (p.Leu489=)
c.1708C>T (p.Leu570=)
c.1756C>T (p.Leu586=)
c.1753C>T (p.Leu585=)
c.1720C>T (p.Leu574=)
c.1226C>T (p.Ser409Phe)
c.971C>T (p.Ser324Phe)
 dbSNP
3g.189894219T>ACA355751134TP63c.1760T>A (p.Leu587Gln)
c.1478T>A (p.Leu493Gln)
c.1521T>A (p.Ser507=)
c.1666T>A (p.Ter556Arg)
c.1239T>A (p.Ser413=)
c.1384T>A (p.Ter462Arg)
c.1748T>A (p.Leu583Gln)
c.1223T>A (p.Leu408Gln)
c.1466T>A (p.Leu489Gln)
c.1709T>A (p.Leu570Gln)
c.1757T>A (p.Leu586Gln)
c.1754T>A (p.Leu585Gln)
c.1721T>A (p.Leu574Gln)
c.1227T>A (p.Ser409=)
c.972T>A (p.Ser324=)
3g.189894219T>CCA355751135TP63c.1760T>C (p.Leu587Pro)
c.1478T>C (p.Leu493Pro)
c.1521T>C (p.Ser507=)
c.1666T>C (p.Ter556Arg)
c.1239T>C (p.Ser413=)
c.1384T>C (p.Ter462Arg)
c.1748T>C (p.Leu583Pro)
c.1223T>C (p.Leu408Pro)
c.1466T>C (p.Leu489Pro)
c.1709T>C (p.Leu570Pro)
c.1757T>C (p.Leu586Pro)
c.1754T>C (p.Leu585Pro)
c.1721T>C (p.Leu574Pro)
c.1227T>C (p.Ser409=)
c.972T>C (p.Ser324=)
 dbSNP
3g.189894219T>GCA355751136TP63c.1760T>G (p.Leu587Arg)
c.1478T>G (p.Leu493Arg)
c.1521T>G (p.Ser507=)
c.1666T>G (p.Ter556Gly)
c.1239T>G (p.Ser413=)
c.1384T>G (p.Ter462Gly)
c.1748T>G (p.Leu583Arg)
c.1223T>G (p.Leu408Arg)
c.1466T>G (p.Leu489Arg)
c.1709T>G (p.Leu570Arg)
c.1757T>G (p.Leu586Arg)
c.1754T>G (p.Leu585Arg)
c.1721T>G (p.Leu574Arg)
c.1227T>G (p.Ser409=)
c.972T>G (p.Ser324=)
3g.189894220G>ACA2752572TP63c.1761G>A (p.Leu587=)
c.1479G>A (p.Leu493=)
c.1522G>A (p.Glu508Lys)
c.1667G>A (p.Ter556=)
c.1240G>A (p.Glu414Lys)
c.1385G>A (p.Ter462=)
c.1749G>A (p.Leu583=)
c.1224G>A (p.Leu408=)
c.1467G>A (p.Leu489=)
c.1710G>A (p.Leu570=)
c.1758G>A (p.Leu586=)
c.1755G>A (p.Leu585=)
c.1722G>A (p.Leu574=)
c.1228G>A (p.Glu410Lys)
c.973G>A (p.Glu325Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894220G>CCA2752573TP63c.1761G>C (p.Leu587=)
c.1479G>C (p.Leu493=)
c.1522G>C (p.Glu508Gln)
c.1667G>C (p.Ter556Ser)
c.1240G>C (p.Glu414Gln)
c.1385G>C (p.Ter462Ser)
c.1749G>C (p.Leu583=)
c.1224G>C (p.Leu408=)
c.1467G>C (p.Leu489=)
c.1710G>C (p.Leu570=)
c.1758G>C (p.Leu586=)
c.1755G>C (p.Leu585=)
c.1722G>C (p.Leu574=)
c.1228G>C (p.Glu410Gln)
c.973G>C (p.Glu325Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894220G=CA1428535196TP63c.1761G= (p.Leu587=)
c.1479G= (p.Leu493=)
c.1522G= (p.Glu508=)
c.1667G= (p.Ter556=)
c.1240G= (p.Glu414=)
c.1385G= (p.Ter462=)
c.1749G= (p.Leu583=)
c.1224G= (p.Leu408=)
c.1467G= (p.Leu489=)
c.1710G= (p.Leu570=)
c.1758G= (p.Leu586=)
c.1755G= (p.Leu585=)
c.1722G= (p.Leu574=)
c.1228G= (p.Glu410=)
c.973G= (p.Glu325=)
3g.189894220G>TCA355751137TP63c.1761G>T (p.Leu587=)
c.1479G>T (p.Leu493=)
c.1522G>T (p.Glu508Ter)
c.1667G>T (p.Ter556Leu)
c.1240G>T (p.Glu414Ter)
c.1385G>T (p.Ter462Leu)
c.1749G>T (p.Leu583=)
c.1224G>T (p.Leu408=)
c.1467G>T (p.Leu489=)
c.1710G>T (p.Leu570=)
c.1758G>T (p.Leu586=)
c.1755G>T (p.Leu585=)
c.1722G>T (p.Leu574=)
c.1228G>T (p.Glu410Ter)
c.973G>T (p.Glu325Ter)
 COSMIC COSMIC
3g.189894221A=CA1428535197TP63c.1762A= (p.Lys588=)
c.1480A= (p.Lys494=)
c.1523A= (p.Glu508=)
c.1668A= (p.Ter556=)
c.1241A= (p.Glu414=)
c.1386A= (p.Ter462=)
c.1750A= (p.Lys584=)
c.1225A= (p.Lys409=)
c.1468A= (p.Lys490=)
c.1711A= (p.Lys571=)
c.1759A= (p.Lys587=)
c.1756A= (p.Lys586=)
c.1723A= (p.Lys575=)
c.1229A= (p.Glu410=)
c.974A= (p.Glu325=)
3g.189894221A>CCA355751138TP63c.1762A>C (p.Lys588Gln)
c.1480A>C (p.Lys494Gln)
c.1523A>C (p.Glu508Ala)
c.1668A>C (p.Ter556Cys)
c.1241A>C (p.Glu414Ala)
c.1386A>C (p.Ter462Cys)
c.1750A>C (p.Lys584Gln)
c.1225A>C (p.Lys409Gln)
c.1468A>C (p.Lys490Gln)
c.1711A>C (p.Lys571Gln)
c.1759A>C (p.Lys587Gln)
c.1756A>C (p.Lys586Gln)
c.1723A>C (p.Lys575Gln)
c.1229A>C (p.Glu410Ala)
c.974A>C (p.Glu325Ala)
3g.189894221A>GCA355751139TP63c.1762A>G (p.Lys588Glu)
c.1480A>G (p.Lys494Glu)
c.1523A>G (p.Glu508Gly)
c.1668A>G (p.Ter556Trp)
c.1241A>G (p.Glu414Gly)
c.1386A>G (p.Ter462Trp)
c.1750A>G (p.Lys584Glu)
c.1225A>G (p.Lys409Glu)
c.1468A>G (p.Lys490Glu)
c.1711A>G (p.Lys571Glu)
c.1759A>G (p.Lys587Glu)
c.1756A>G (p.Lys586Glu)
c.1723A>G (p.Lys575Glu)
c.1229A>G (p.Glu410Gly)
c.974A>G (p.Glu325Gly)
 dbSNP gnomAD v2 gnomAD v4
3g.189894221A>TCA355751140TP63c.1762A>T (p.Lys588Ter)
c.1480A>T (p.Lys494Ter)
c.1523A>T (p.Glu508Val)
c.1668A>T (p.Ter556Cys)
c.1241A>T (p.Glu414Val)
c.1386A>T (p.Ter462Cys)
c.1750A>T (p.Lys584Ter)
c.1225A>T (p.Lys409Ter)
c.1468A>T (p.Lys490Ter)
c.1711A>T (p.Lys571Ter)
c.1759A>T (p.Lys587Ter)
c.1756A>T (p.Lys586Ter)
c.1723A>T (p.Lys575Ter)
c.1229A>T (p.Glu410Val)
c.974A>T (p.Glu325Val)
3g.189894222A>CCA355751141TP63c.1763A>C (p.Lys588Thr)
c.1481A>C (p.Lys494Thr)
c.1524A>C (p.Glu508Asp)
c.1242A>C (p.Glu414Asp)
c.1751A>C (p.Lys584Thr)
c.1226A>C (p.Lys409Thr)
c.1469A>C (p.Lys490Thr)
c.*1A>C (n.*1A>C)
c.1712A>C (p.Lys571Thr)
c.1760A>C (p.Lys587Thr)
c.1757A>C (p.Lys586Thr)
c.1724A>C (p.Lys575Thr)
c.1230A>C (p.Glu410Asp)
c.975A>C (p.Glu325Asp)
3g.189894222A>GCA355751142TP63c.1763A>G (p.Lys588Arg)
c.1481A>G (p.Lys494Arg)
c.1524A>G (p.Glu508=)
c.1242A>G (p.Glu414=)
c.1751A>G (p.Lys584Arg)
c.1226A>G (p.Lys409Arg)
c.1469A>G (p.Lys490Arg)
c.*1A>G (n.*1A>G)
c.1712A>G (p.Lys571Arg)
c.1760A>G (p.Lys587Arg)
c.1757A>G (p.Lys586Arg)
c.1724A>G (p.Lys575Arg)
c.1230A>G (p.Glu410=)
c.975A>G (p.Glu325=)
 dbSNP
3g.189894222A>TCA355751143TP63c.1763A>T (p.Lys588Ile)
c.1481A>T (p.Lys494Ile)
c.1524A>T (p.Glu508Asp)
c.1242A>T (p.Glu414Asp)
c.1751A>T (p.Lys584Ile)
c.1226A>T (p.Lys409Ile)
c.1469A>T (p.Lys490Ile)
c.*1A>T (n.*1A>T)
c.1712A>T (p.Lys571Ile)
c.1760A>T (p.Lys587Ile)
c.1757A>T (p.Lys586Ile)
c.1724A>T (p.Lys575Ile)
c.1230A>T (p.Glu410Asp)
c.975A>T (p.Glu325Asp)
3g.189894223A>CCA355751146TP63c.1764A>C (p.Lys588Asn)
c.1482A>C (p.Lys494Asn)
c.1525A>C (p.Asn509His)
c.1243A>C (p.Asn415His)
c.1752A>C (p.Lys584Asn)
c.1227A>C (p.Lys409Asn)
c.1470A>C (p.Lys490Asn)
c.*2A>C (n.*2A>C)
c.1713A>C (p.Lys571Asn)
c.1761A>C (p.Lys587Asn)
c.1758A>C (p.Lys586Asn)
c.1725A>C (p.Lys575Asn)
c.1231A>C (p.Asn411His)
c.976A>C (p.Asn326His)
3g.189894223A>GCA355751144TP63c.1764A>G (p.Lys588=)
c.1482A>G (p.Lys494=)
c.1525A>G (p.Asn509Asp)
c.1243A>G (p.Asn415Asp)
c.1752A>G (p.Lys584=)
c.1227A>G (p.Lys409=)
c.1470A>G (p.Lys490=)
c.*2A>G (n.*2A>G)
c.1713A>G (p.Lys571=)
c.1761A>G (p.Lys587=)
c.1758A>G (p.Lys586=)
c.1725A>G (p.Lys575=)
c.1231A>G (p.Asn411Asp)
c.976A>G (p.Asn326Asp)
 gnomAD v4
3g.189894223A>TCA355751145TP63c.1764A>T (p.Lys588Asn)
c.1482A>T (p.Lys494Asn)
c.1525A>T (p.Asn509Tyr)
c.1243A>T (p.Asn415Tyr)
c.1752A>T (p.Lys584Asn)
c.1227A>T (p.Lys409Asn)
c.1470A>T (p.Lys490Asn)
c.*2A>T (n.*2A>T)
c.1713A>T (p.Lys571Asn)
c.1761A>T (p.Lys587Asn)
c.1758A>T (p.Lys586Asn)
c.1725A>T (p.Lys575Asn)
c.1231A>T (p.Asn411Tyr)
c.976A>T (p.Asn326Tyr)
3g.189894224A>CCA355751147TP63c.1765A>C (p.Ile589Leu)
c.1483A>C (p.Ile495Leu)
c.1526A>C (p.Asn509Thr)
c.1244A>C (p.Asn415Thr)
c.1753A>C (p.Ile585Leu)
c.1228A>C (p.Ile410Leu)
c.1471A>C (p.Ile491Leu)
c.*3A>C (n.*3A>C)
c.1714A>C (p.Ile572Leu)
c.1762A>C (p.Ile588Leu)
c.1759A>C (p.Ile587Leu)
c.1726A>C (p.Ile576Leu)
c.1232A>C (p.Asn411Thr)
c.977A>C (p.Asn326Thr)
 dbSNP
3g.189894224A>GCA355751148TP63c.1765A>G (p.Ile589Val)
c.1483A>G (p.Ile495Val)
c.1526A>G (p.Asn509Ser)
c.1244A>G (p.Asn415Ser)
c.1753A>G (p.Ile585Val)
c.1228A>G (p.Ile410Val)
c.1471A>G (p.Ile491Val)
c.*3A>G (n.*3A>G)
c.1714A>G (p.Ile572Val)
c.1762A>G (p.Ile588Val)
c.1759A>G (p.Ile587Val)
c.1726A>G (p.Ile576Val)
c.1232A>G (p.Asn411Ser)
c.977A>G (p.Asn326Ser)
3g.189894224A>TCA355751149TP63c.1765A>T (p.Ile589Phe)
c.1483A>T (p.Ile495Phe)
c.1526A>T (p.Asn509Ile)
c.1244A>T (p.Asn415Ile)
c.1753A>T (p.Ile585Phe)
c.1228A>T (p.Ile410Phe)
c.1471A>T (p.Ile491Phe)
c.*3A>T (n.*3A>T)
c.1714A>T (p.Ile572Phe)
c.1762A>T (p.Ile588Phe)
c.1759A>T (p.Ile587Phe)
c.1726A>T (p.Ile576Phe)
c.1232A>T (p.Asn411Ile)
c.977A>T (p.Asn326Ile)
 dbSNP
3g.189894225T>ACA355751150TP63c.1766T>A (p.Ile589Asn)
c.1484T>A (p.Ile495Asn)
c.1527T>A (p.Asn509Lys)
c.1245T>A (p.Asn415Lys)
c.1754T>A (p.Ile585Asn)
c.1229T>A (p.Ile410Asn)
c.1472T>A (p.Ile491Asn)
c.*4T>A (n.*4T>A)
c.1715T>A (p.Ile572Asn)
c.1763T>A (p.Ile588Asn)
c.1760T>A (p.Ile587Asn)
c.1727T>A (p.Ile576Asn)
c.1233T>A (p.Asn411Lys)
c.978T>A (p.Asn326Lys)
3g.189894225T>CCA355751151TP63c.1766T>C (p.Ile589Thr)
c.1484T>C (p.Ile495Thr)
c.1527T>C (p.Asn509=)
c.1245T>C (p.Asn415=)
c.1754T>C (p.Ile585Thr)
c.1229T>C (p.Ile410Thr)
c.1472T>C (p.Ile491Thr)
c.*4T>C (n.*4T>C)
c.1715T>C (p.Ile572Thr)
c.1763T>C (p.Ile588Thr)
c.1760T>C (p.Ile587Thr)
c.1727T>C (p.Ile576Thr)
c.1233T>C (p.Asn411=)
c.978T>C (p.Asn326=)
3g.189894225T>GCA355751152TP63c.1766T>G (p.Ile589Ser)
c.1484T>G (p.Ile495Ser)
c.1527T>G (p.Asn509Lys)
c.1245T>G (p.Asn415Lys)
c.1754T>G (p.Ile585Ser)
c.1229T>G (p.Ile410Ser)
c.1472T>G (p.Ile491Ser)
c.*4T>G (n.*4T>G)
c.1715T>G (p.Ile572Ser)
c.1763T>G (p.Ile588Ser)
c.1760T>G (p.Ile587Ser)
c.1727T>G (p.Ile576Ser)
c.1233T>G (p.Asn411Lys)
c.978T>G (p.Asn326Lys)
3g.189894226C>ACA355751153TP63c.1767C>A (p.Ile589=)
c.1485C>A (p.Ile495=)
c.1528C>A (p.Pro510Thr)
c.1246C>A (p.Pro416Thr)
c.1755C>A (p.Ile585=)
c.1230C>A (p.Ile410=)
c.1473C>A (p.Ile491=)
c.*5C>A (n.*5C>A)
c.1716C>A (p.Ile572=)
c.1764C>A (p.Ile588=)
c.1761C>A (p.Ile587=)
c.1728C>A (p.Ile576=)
c.1234C>A (p.Pro412Thr)
c.979C>A (p.Pro327Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189894226C=CA1428535198TP63c.1767C= (p.Ile589=)
c.1485C= (p.Ile495=)
c.1528C= (p.Pro510=)
c.1246C= (p.Pro416=)
c.1755C= (p.Ile585=)
c.1230C= (p.Ile410=)
c.1473C= (p.Ile491=)
c.*5C= (n.*5C=)
c.1716C= (p.Ile572=)
c.1764C= (p.Ile588=)
c.1761C= (p.Ile587=)
c.1728C= (p.Ile576=)
c.1234C= (p.Pro412=)
c.979C= (p.Pro327=)
3g.189894226C>GCA355751154TP63c.1767C>G (p.Ile589Met)
c.1485C>G (p.Ile495Met)
c.1528C>G (p.Pro510Ala)
c.1246C>G (p.Pro416Ala)
c.1755C>G (p.Ile585Met)
c.1230C>G (p.Ile410Met)
c.1473C>G (p.Ile491Met)
c.*5C>G (n.*5C>G)
c.1716C>G (p.Ile572Met)
c.1764C>G (p.Ile588Met)
c.1761C>G (p.Ile587Met)
c.1728C>G (p.Ile576Met)
c.1234C>G (p.Pro412Ala)
c.979C>G (p.Pro327Ala)
 dbSNP
3g.189894226C>TCA355751155TP63c.1767C>T (p.Ile589=)
c.1485C>T (p.Ile495=)
c.1528C>T (p.Pro510Ser)
c.1246C>T (p.Pro416Ser)
c.1755C>T (p.Ile585=)
c.1230C>T (p.Ile410=)
c.1473C>T (p.Ile491=)
c.*5C>T (n.*5C>T)
c.1716C>T (p.Ile572=)
c.1764C>T (p.Ile588=)
c.1761C>T (p.Ile587=)
c.1728C>T (p.Ile576=)
c.1234C>T (p.Pro412Ser)
c.979C>T (p.Pro327Ser)
 dbSNP COSMIC COSMIC
3g.189894227C>ACA355751156TP63c.1768C>A (p.Pro590Thr)
c.1486C>A (p.Pro496Thr)
c.1529C>A (p.Pro510His)
c.1247C>A (p.Pro416His)
c.1756C>A (p.Pro586Thr)
c.1231C>A (p.Pro411Thr)
c.1474C>A (p.Pro492Thr)
c.*6C>A (n.*6C>A)
c.1717C>A (p.Pro573Thr)
c.1765C>A (p.Pro589Thr)
c.1762C>A (p.Pro588Thr)
c.1729C>A (p.Pro577Thr)
c.1235C>A (p.Pro412His)
c.980C>A (p.Pro327His)
3g.189894227C=CA1428535199TP63c.1768C= (p.Pro590=)
c.1486C= (p.Pro496=)
c.1529C= (p.Pro510=)
c.1247C= (p.Pro416=)
c.1756C= (p.Pro586=)
c.1231C= (p.Pro411=)
c.1474C= (p.Pro492=)
c.*6C= (n.*6C=)
c.1717C= (p.Pro573=)
c.1765C= (p.Pro589=)
c.1762C= (p.Pro588=)
c.1729C= (p.Pro577=)
c.1235C= (p.Pro412=)
c.980C= (p.Pro327=)
3g.189894227C>GCA355751157TP63c.1768C>G (p.Pro590Ala)
c.1486C>G (p.Pro496Ala)
c.1529C>G (p.Pro510Arg)
c.1247C>G (p.Pro416Arg)
c.1756C>G (p.Pro586Ala)
c.1231C>G (p.Pro411Ala)
c.1474C>G (p.Pro492Ala)
c.*6C>G (n.*6C>G)
c.1717C>G (p.Pro573Ala)
c.1765C>G (p.Pro589Ala)
c.1762C>G (p.Pro588Ala)
c.1729C>G (p.Pro577Ala)
c.1235C>G (p.Pro412Arg)
c.980C>G (p.Pro327Arg)
3g.189894227C>TCA355751158TP63c.1768C>T (p.Pro590Ser)
c.1486C>T (p.Pro496Ser)
c.1529C>T (p.Pro510Leu)
c.1247C>T (p.Pro416Leu)
c.1756C>T (p.Pro586Ser)
c.1231C>T (p.Pro411Ser)
c.1474C>T (p.Pro492Ser)
c.*6C>T (n.*6C>T)
c.1717C>T (p.Pro573Ser)
c.1765C>T (p.Pro589Ser)
c.1762C>T (p.Pro588Ser)
c.1729C>T (p.Pro577Ser)
c.1235C>T (p.Pro412Leu)
c.980C>T (p.Pro327Leu)
 ClinVar dbSNP
3g.189894228C>ACA355751161TP63c.1769C>A (p.Pro590His)
c.1487C>A (p.Pro496His)
c.1530C>A (p.Pro510=)
c.1248C>A (p.Pro416=)
c.1757C>A (p.Pro586His)
c.1232C>A (p.Pro411His)
c.1475C>A (p.Pro492His)
c.*7C>A (n.*7C>A)
c.1718C>A (p.Pro573His)
c.1766C>A (p.Pro589His)
c.1763C>A (p.Pro588His)
c.1730C>A (p.Pro577His)
c.1236C>A (p.Pro412=)
c.981C>A (p.Pro327=)
 dbSNP
3g.189894228C>GCA355751160TP63c.1769C>G (p.Pro590Arg)
c.1487C>G (p.Pro496Arg)
c.1530C>G (p.Pro510=)
c.1248C>G (p.Pro416=)
c.1757C>G (p.Pro586Arg)
c.1232C>G (p.Pro411Arg)
c.1475C>G (p.Pro492Arg)
c.*7C>G (n.*7C>G)
c.1718C>G (p.Pro573Arg)
c.1766C>G (p.Pro589Arg)
c.1763C>G (p.Pro588Arg)
c.1730C>G (p.Pro577Arg)
c.1236C>G (p.Pro412=)
c.981C>G (p.Pro327=)
 dbSNP
3g.189894228C>TCA355751159TP63c.1769C>T (p.Pro590Leu)
c.1487C>T (p.Pro496Leu)
c.1530C>T (p.Pro510=)
c.1248C>T (p.Pro416=)
c.1757C>T (p.Pro586Leu)
c.1232C>T (p.Pro411Leu)
c.1475C>T (p.Pro492Leu)
c.*7C>T (n.*7C>T)
c.1718C>T (p.Pro573Leu)
c.1766C>T (p.Pro589Leu)
c.1763C>T (p.Pro588Leu)
c.1730C>T (p.Pro577Leu)
c.1236C>T (p.Pro412=)
c.981C>T (p.Pro327=)
 ClinVar dbSNP
3g.189894229T>ACA355751162TP63c.1770T>A (p.Pro590=)
c.1488T>A (p.Pro496=)
c.1531T>A (p.Ter511Arg)
c.1249T>A (p.Ter417Arg)
c.1758T>A (p.Pro586=)
c.1233T>A (p.Pro411=)
c.1476T>A (p.Pro492=)
c.*8T>A (n.*8T>A)
c.1719T>A (p.Pro573=)
c.1767T>A (p.Pro589=)
c.1764T>A (p.Pro588=)
c.1731T>A (p.Pro577=)
c.1237T>A (p.Ter413Arg)
c.982T>A (p.Ter328Arg)
 dbSNP
3g.189894229T>CCA2752574TP63c.1770T>C (p.Pro590=)
c.1488T>C (p.Pro496=)
c.1531T>C (p.Ter511Arg)
c.1249T>C (p.Ter417Arg)
c.1758T>C (p.Pro586=)
c.1233T>C (p.Pro411=)
c.1476T>C (p.Pro492=)
c.*8T>C (n.*8T>C)
c.1719T>C (p.Pro573=)
c.1767T>C (p.Pro589=)
c.1764T>C (p.Pro588=)
c.1731T>C (p.Pro577=)
c.1237T>C (p.Ter413Arg)
c.982T>C (p.Ter328Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.189894229T>GCA355751163TP63c.1770T>G (p.Pro590=)
c.1488T>G (p.Pro496=)
c.1531T>G (p.Ter511Gly)
c.1249T>G (p.Ter417Gly)
c.1758T>G (p.Pro586=)
c.1233T>G (p.Pro411=)
c.1476T>G (p.Pro492=)
c.*8T>G (n.*8T>G)
c.1719T>G (p.Pro573=)
c.1767T>G (p.Pro589=)
c.1764T>G (p.Pro588=)
c.1731T>G (p.Pro577=)
c.1237T>G (p.Ter413Gly)
c.982T>G (p.Ter328Gly)
3g.189894229T=CA1428535200TP63c.1770T= (p.Pro590=)
c.1488T= (p.Pro496=)
c.1531T= (p.Ter511=)
c.1249T= (p.Ter417=)
c.1758T= (p.Pro586=)
c.1233T= (p.Pro411=)
c.1476T= (p.Pro492=)
c.*8T= (n.*8T=)
c.1719T= (p.Pro573=)
c.1767T= (p.Pro589=)
c.1764T= (p.Pro588=)
c.1731T= (p.Pro577=)
c.1237T= (p.Ter413=)
c.982T= (p.Ter328=)
3g.189894230G>ACA355751164TP63c.1771G>A (p.Glu591Lys)
c.1489G>A (p.Glu497Lys)
c.1532G>A (p.Ter511=)
c.1250G>A (p.Ter417=)
c.1759G>A (p.Glu587Lys)
c.1234G>A (p.Glu412Lys)
c.1477G>A (p.Glu493Lys)
c.*9G>A (n.*9G>A)
c.1720G>A (p.Glu574Lys)
c.1768G>A (p.Glu590Lys)
c.1765G>A (p.Glu589Lys)
c.1732G>A (p.Glu578Lys)
c.1238G>A (p.Ter413=)
c.983G>A (p.Ter328=)
 dbSNP
3g.189894230G>CCA355751165TP63c.1771G>C (p.Glu591Gln)
c.1489G>C (p.Glu497Gln)
c.1532G>C (p.Ter511Ser)
c.1250G>C (p.Ter417Ser)
c.1759G>C (p.Glu587Gln)
c.1234G>C (p.Glu412Gln)
c.1477G>C (p.Glu493Gln)
c.*9G>C (n.*9G>C)
c.1720G>C (p.Glu574Gln)
c.1768G>C (p.Glu590Gln)
c.1765G>C (p.Glu589Gln)
c.1732G>C (p.Glu578Gln)
c.1238G>C (p.Ter413Ser)
c.983G>C (p.Ter328Ser)
 dbSNP
3g.189894230G>TCA355751166TP63c.1771G>T (p.Glu591Ter)
c.1489G>T (p.Glu497Ter)
c.1532G>T (p.Ter511Leu)
c.1250G>T (p.Ter417Leu)
c.1759G>T (p.Glu587Ter)
c.1234G>T (p.Glu412Ter)
c.1477G>T (p.Glu493Ter)
c.*9G>T (n.*9G>T)
c.1720G>T (p.Glu574Ter)
c.1768G>T (p.Glu590Ter)
c.1765G>T (p.Glu589Ter)
c.1732G>T (p.Glu578Ter)
c.1238G>T (p.Ter413Leu)
c.983G>T (p.Ter328Leu)
 dbSNP
3g.189894231A>CCA355751169TP63c.1772A>C (p.Glu591Ala)
c.1490A>C (p.Glu497Ala)
c.1533A>C (p.Ter511Cys)
c.1251A>C (p.Ter417Cys)
c.1760A>C (p.Glu587Ala)
c.1235A>C (p.Glu412Ala)
c.1478A>C (p.Glu493Ala)
c.*10A>C (n.*10A>C)
c.1721A>C (p.Glu574Ala)
c.1769A>C (p.Glu590Ala)
c.1766A>C (p.Glu589Ala)
c.1733A>C (p.Glu578Ala)
c.1239A>C (p.Ter413Cys)
c.984A>C (p.Ter328Cys)
3g.189894231A>GCA355751167TP63c.1772A>G (p.Glu591Gly)
c.1490A>G (p.Glu497Gly)
c.1533A>G (p.Ter511Trp)
c.1251A>G (p.Ter417Trp)
c.1760A>G (p.Glu587Gly)
c.1235A>G (p.Glu412Gly)
c.1478A>G (p.Glu493Gly)
c.*10A>G (n.*10A>G)
c.1721A>G (p.Glu574Gly)
c.1769A>G (p.Glu590Gly)
c.1766A>G (p.Glu589Gly)
c.1733A>G (p.Glu578Gly)
c.1239A>G (p.Ter413Trp)
c.984A>G (p.Ter328Trp)
 dbSNP
3g.189894231A>TCA355751168TP63c.1772A>T (p.Glu591Val)
c.1490A>T (p.Glu497Val)
c.1533A>T (p.Ter511Cys)
c.1251A>T (p.Ter417Cys)
c.1760A>T (p.Glu587Val)
c.1235A>T (p.Glu412Val)
c.1478A>T (p.Glu493Val)
c.*10A>T (n.*10A>T)
c.1721A>T (p.Glu574Val)
c.1769A>T (p.Glu590Val)
c.1766A>T (p.Glu589Val)
c.1733A>T (p.Glu578Val)
c.1239A>T (p.Ter413Cys)
c.984A>T (p.Ter328Cys)
 dbSNP
3g.189894232G>ACA437636979TP63c.1773G>A (p.Glu591=)
c.1491G>A (p.Glu497=)
c.*1G>A (n.*1G>A)
c.1761G>A (p.Glu587=)
c.1236G>A (p.Glu412=)
c.1479G>A (p.Glu493=)
c.*11G>A (n.*11G>A)
c.1722G>A (p.Glu574=)
c.1770G>A (p.Glu590=)
c.1767G>A (p.Glu589=)
c.1734G>A (p.Glu578=)
 dbSNP
3g.189894232G>CCA355751170TP63c.1773G>C (p.Glu591Asp)
c.1491G>C (p.Glu497Asp)
c.*1G>C (n.*1G>C)
c.1761G>C (p.Glu587Asp)
c.1236G>C (p.Glu412Asp)
c.1479G>C (p.Glu493Asp)
c.*11G>C (n.*11G>C)
c.1722G>C (p.Glu574Asp)
c.1770G>C (p.Glu590Asp)
c.1767G>C (p.Glu589Asp)
c.1734G>C (p.Glu578Asp)
 dbSNP
3g.189894232G>TCA355751171TP63c.1773G>T (p.Glu591Asp)
c.1491G>T (p.Glu497Asp)
c.*1G>T (n.*1G>T)
c.1761G>T (p.Glu587Asp)
c.1236G>T (p.Glu412Asp)
c.1479G>T (p.Glu493Asp)
c.*11G>T (n.*11G>T)
c.1722G>T (p.Glu574Asp)
c.1770G>T (p.Glu590Asp)
c.1767G>T (p.Glu589Asp)
c.1734G>T (p.Glu578Asp)
 dbSNP
3g.189894233C>ACA355751172TP63c.1774C>A (p.Gln592Lys)
c.1492C>A (p.Gln498Lys)
c.*2C>A (n.*2C>A)
c.1762C>A (p.Gln588Lys)
c.1237C>A (p.Gln413Lys)
c.1480C>A (p.Gln494Lys)
c.*12C>A (n.*12C>A)
c.1723C>A (p.Gln575Lys)
c.1771C>A (p.Gln591Lys)
c.1768C>A (p.Gln590Lys)
c.1735C>A (p.Gln579Lys)
3g.189894233C>GCA355751173TP63c.1774C>G (p.Gln592Glu)
c.1492C>G (p.Gln498Glu)
c.*2C>G (n.*2C>G)
c.1762C>G (p.Gln588Glu)
c.1237C>G (p.Gln413Glu)
c.1480C>G (p.Gln494Glu)
c.*12C>G (n.*12C>G)
c.1723C>G (p.Gln575Glu)
c.1771C>G (p.Gln591Glu)
c.1768C>G (p.Gln590Glu)
c.1735C>G (p.Gln579Glu)
 dbSNP gnomAD v4
3g.189894233C>TCA355751174TP63c.1774C>T (p.Gln592Ter)
c.1492C>T (p.Gln498Ter)
c.*2C>T (n.*2C>T)
c.1762C>T (p.Gln588Ter)
c.1237C>T (p.Gln413Ter)
c.1480C>T (p.Gln494Ter)
c.*12C>T (n.*12C>T)
c.1723C>T (p.Gln575Ter)
c.1771C>T (p.Gln591Ter)
c.1768C>T (p.Gln590Ter)
c.1735C>T (p.Gln579Ter)
 dbSNP
3g.189894234A>CCA355751177TP63c.1775A>C (p.Gln592Pro)
c.1493A>C (p.Gln498Pro)
c.*3A>C (n.*3A>C)
c.1763A>C (p.Gln588Pro)
c.1238A>C (p.Gln413Pro)
c.1481A>C (p.Gln494Pro)
c.*13A>C (n.*13A>C)
c.1724A>C (p.Gln575Pro)
c.1772A>C (p.Gln591Pro)
c.1769A>C (p.Gln590Pro)
c.1736A>C (p.Gln579Pro)
3g.189894234A>GCA355751175TP63c.1775A>G (p.Gln592Arg)
c.1493A>G (p.Gln498Arg)
c.*3A>G (n.*3A>G)
c.1763A>G (p.Gln588Arg)
c.1238A>G (p.Gln413Arg)
c.1481A>G (p.Gln494Arg)
c.*13A>G (n.*13A>G)
c.1724A>G (p.Gln575Arg)
c.1772A>G (p.Gln591Arg)
c.1769A>G (p.Gln590Arg)
c.1736A>G (p.Gln579Arg)
 dbSNP
3g.189894234A>TCA355751176TP63c.1775A>T (p.Gln592Leu)
c.1493A>T (p.Gln498Leu)
c.*3A>T (n.*3A>T)
c.1763A>T (p.Gln588Leu)
c.1238A>T (p.Gln413Leu)
c.1481A>T (p.Gln494Leu)
c.*13A>T (n.*13A>T)
c.1724A>T (p.Gln575Leu)
c.1772A>T (p.Gln591Leu)
c.1769A>T (p.Gln590Leu)
c.1736A>T (p.Gln579Leu)
3g.189894235A>CCA355751178TP63c.1776A>C (p.Gln592His)
c.1494A>C (p.Gln498His)
c.*4A>C (n.*4A>C)
c.1764A>C (p.Gln588His)
c.1239A>C (p.Gln413His)
c.1482A>C (p.Gln494His)
c.*14A>C (n.*14A>C)
c.1725A>C (p.Gln575His)
c.1773A>C (p.Gln591His)
c.1770A>C (p.Gln590His)
c.1737A>C (p.Gln579His)
3g.189894235A>GCA437636983TP63c.1776A>G (p.Gln592=)
c.1494A>G (p.Gln498=)
c.*4A>G (n.*4A>G)
c.1764A>G (p.Gln588=)
c.1239A>G (p.Gln413=)
c.1482A>G (p.Gln494=)
c.*14A>G (n.*14A>G)
c.1725A>G (p.Gln575=)
c.1773A>G (p.Gln591=)
c.1770A>G (p.Gln590=)
c.1737A>G (p.Gln579=)
 dbSNP
3g.189894235A>TCA355751179TP63c.1776A>T (p.Gln592His)
c.1494A>T (p.Gln498His)
c.*4A>T (n.*4A>T)
c.1764A>T (p.Gln588His)
c.1239A>T (p.Gln413His)
c.1482A>T (p.Gln494His)
c.*14A>T (n.*14A>T)
c.1725A>T (p.Gln575His)
c.1773A>T (p.Gln591His)
c.1770A>T (p.Gln590His)
c.1737A>T (p.Gln579His)
 dbSNP
3g.189894236T>ACA355751180TP63c.1777T>A (p.Phe593Ile)
c.1495T>A (p.Phe499Ile)
c.*5T>A (n.*5T>A)
c.1765T>A (p.Phe589Ile)
c.1240T>A (p.Phe414Ile)
c.1483T>A (p.Phe495Ile)
c.*15T>A (n.*15T>A)
c.1726T>A (p.Phe576Ile)
c.1774T>A (p.Phe592Ile)
c.1771T>A (p.Phe591Ile)
c.1738T>A (p.Phe580Ile)
 dbSNP
3g.189894236T>CCA355751181TP63c.1777T>C (p.Phe593Leu)
c.1495T>C (p.Phe499Leu)
c.*5T>C (n.*5T>C)
c.1765T>C (p.Phe589Leu)
c.1240T>C (p.Phe414Leu)
c.1483T>C (p.Phe495Leu)
c.*15T>C (n.*15T>C)
c.1726T>C (p.Phe576Leu)
c.1774T>C (p.Phe592Leu)
c.1771T>C (p.Phe591Leu)
c.1738T>C (p.Phe580Leu)
 dbSNP
3g.189894236T>GCA355751182TP63c.1777T>G (p.Phe593Val)
c.1495T>G (p.Phe499Val)
c.*5T>G (n.*5T>G)
c.1765T>G (p.Phe589Val)
c.1240T>G (p.Phe414Val)
c.1483T>G (p.Phe495Val)
c.*15T>G (n.*15T>G)
c.1726T>G (p.Phe576Val)
c.1774T>G (p.Phe592Val)
c.1771T>G (p.Phe591Val)
c.1738T>G (p.Phe580Val)
 dbSNP
3g.189894237T>ACA355751183TP63c.1778T>A (p.Phe593Tyr)
c.1496T>A (p.Phe499Tyr)
c.*6T>A (n.*6T>A)
c.1766T>A (p.Phe589Tyr)
c.1241T>A (p.Phe414Tyr)
c.1484T>A (p.Phe495Tyr)
c.*16T>A (n.*16T>A)
c.1727T>A (p.Phe576Tyr)
c.1775T>A (p.Phe592Tyr)
c.1772T>A (p.Phe591Tyr)
c.1739T>A (p.Phe580Tyr)
 dbSNP
3g.189894237T>CCA355751184TP63c.1778T>C (p.Phe593Ser)
c.1496T>C (p.Phe499Ser)
c.*6T>C (n.*6T>C)
c.1766T>C (p.Phe589Ser)
c.1241T>C (p.Phe414Ser)
c.1484T>C (p.Phe495Ser)
c.*16T>C (n.*16T>C)
c.1727T>C (p.Phe576Ser)
c.1775T>C (p.Phe592Ser)
c.1772T>C (p.Phe591Ser)
c.1739T>C (p.Phe580Ser)
3g.189894237T>GCA355751185TP63c.1778T>G (p.Phe593Cys)
c.1496T>G (p.Phe499Cys)
c.*6T>G (n.*6T>G)
c.1766T>G (p.Phe589Cys)
c.1241T>G (p.Phe414Cys)
c.1484T>G (p.Phe495Cys)
c.*16T>G (n.*16T>G)
c.1727T>G (p.Phe576Cys)
c.1775T>G (p.Phe592Cys)
c.1772T>G (p.Phe591Cys)
c.1739T>G (p.Phe580Cys)
3g.189894238T>ACA2752575TP63c.1779T>A (p.Phe593Leu)
c.1497T>A (p.Phe499Leu)
c.*7T>A (n.*7T>A)
c.1767T>A (p.Phe589Leu)
c.1242T>A (p.Phe414Leu)
c.1485T>A (p.Phe495Leu)
c.*17T>A (n.*17T>A)
c.1728T>A (p.Phe576Leu)
c.1776T>A (p.Phe592Leu)
c.1773T>A (p.Phe591Leu)
c.1740T>A (p.Phe580Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189894238T>CCA437636987TP63c.1779T>C (p.Phe593=)
c.1497T>C (p.Phe499=)
c.*7T>C (n.*7T>C)
c.1767T>C (p.Phe589=)
c.1242T>C (p.Phe414=)
c.1485T>C (p.Phe495=)
c.*17T>C (n.*17T>C)
c.1728T>C (p.Phe576=)
c.1776T>C (p.Phe592=)
c.1773T>C (p.Phe591=)
c.1740T>C (p.Phe580=)
3g.189894238T>GCA355751186TP63c.1779T>G (p.Phe593Leu)
c.1497T>G (p.Phe499Leu)
c.*7T>G (n.*7T>G)
c.1767T>G (p.Phe589Leu)
c.1242T>G (p.Phe414Leu)
c.1485T>G (p.Phe495Leu)
c.*17T>G (n.*17T>G)
c.1728T>G (p.Phe576Leu)
c.1776T>G (p.Phe592Leu)
c.1773T>G (p.Phe591Leu)
c.1740T>G (p.Phe580Leu)
3g.189894238T=CA1428535201TP63c.1779T= (p.Phe593=)
c.1497T= (p.Phe499=)
c.*7T= (n.*7T=)
c.1767T= (p.Phe589=)
c.1242T= (p.Phe414=)
c.1485T= (p.Phe495=)
c.*17T= (n.*17T=)
c.1728T= (p.Phe576=)
c.1776T= (p.Phe592=)
c.1773T= (p.Phe591=)
c.1740T= (p.Phe580=)
3g.189894239C>ACA89713240TP63c.1780C>A (p.Arg594=)
c.1498C>A (p.Arg500=)
c.*8C>A (n.*8C>A)
c.1768C>A (p.Arg590=)
c.1243C>A (p.Arg415=)
c.1486C>A (p.Arg496=)
c.*18C>A (n.*18C>A)
c.1729C>A (p.Arg577=)
c.1777C>A (p.Arg593=)
c.1774C>A (p.Arg592=)
c.1741C>A (p.Arg581=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189894239C=CA1428535202TP63c.1780C= (p.Arg594=)
c.1498C= (p.Arg500=)
c.*8C= (n.*8C=)
c.1768C= (p.Arg590=)
c.1243C= (p.Arg415=)
c.1486C= (p.Arg496=)
c.*18C= (n.*18C=)
c.1729C= (p.Arg577=)
c.1777C= (p.Arg593=)
c.1774C= (p.Arg592=)
c.1741C= (p.Arg581=)
3g.189894239C>GCA355751187TP63c.1780C>G (p.Arg594Gly)
c.1498C>G (p.Arg500Gly)
c.*8C>G (n.*8C>G)
c.1768C>G (p.Arg590Gly)
c.1243C>G (p.Arg415Gly)
c.1486C>G (p.Arg496Gly)
c.*18C>G (n.*18C>G)
c.1729C>G (p.Arg577Gly)
c.1777C>G (p.Arg593Gly)
c.1774C>G (p.Arg592Gly)
c.1741C>G (p.Arg581Gly)
 dbSNP
3g.189894239C>TCA355751188TP63c.1780C>T (p.Arg594Ter)
c.1498C>T (p.Arg500Ter)
c.*8C>T (n.*8C>T)
c.1768C>T (p.Arg590Ter)
c.1243C>T (p.Arg415Ter)
c.1486C>T (p.Arg496Ter)
c.*18C>T (n.*18C>T)
c.1729C>T (p.Arg577Ter)
c.1777C>T (p.Arg593Ter)
c.1774C>T (p.Arg592Ter)
c.1741C>T (p.Arg581Ter)
 ClinVar dbSNP COSMIC COSMIC
3g.189894240G>ACA2752576TP63c.1781G>A (p.Arg594Gln)
c.1499G>A (p.Arg500Gln)
c.*9G>A (n.*9G>A)
c.1769G>A (p.Arg590Gln)
c.1244G>A (p.Arg415Gln)
c.1487G>A (p.Arg496Gln)
c.*19G>A (n.*19G>A)
c.1730G>A (p.Arg577Gln)
c.1778G>A (p.Arg593Gln)
c.1775G>A (p.Arg592Gln)
c.1742G>A (p.Arg581Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894240G>CCA355751190TP63c.1781G>C (p.Arg594Pro)
c.1499G>C (p.Arg500Pro)
c.*9G>C (n.*9G>C)
c.1769G>C (p.Arg590Pro)
c.1244G>C (p.Arg415Pro)
c.1487G>C (p.Arg496Pro)
c.*19G>C (n.*19G>C)
c.1730G>C (p.Arg577Pro)
c.1778G>C (p.Arg593Pro)
c.1775G>C (p.Arg592Pro)
c.1742G>C (p.Arg581Pro)
 dbSNP
3g.189894240G=CA1428535203TP63c.1781G= (p.Arg594=)
c.1499G= (p.Arg500=)
c.*9G= (n.*9G=)
c.1769G= (p.Arg590=)
c.1244G= (p.Arg415=)
c.1487G= (p.Arg496=)
c.*19G= (n.*19G=)
c.1730G= (p.Arg577=)
c.1778G= (p.Arg593=)
c.1775G= (p.Arg592=)
c.1742G= (p.Arg581=)
3g.189894240G>TCA355751189TP63c.1781G>T (p.Arg594Leu)
c.1499G>T (p.Arg500Leu)
c.*9G>T (n.*9G>T)
c.1769G>T (p.Arg590Leu)
c.1244G>T (p.Arg415Leu)
c.1487G>T (p.Arg496Leu)
c.*19G>T (n.*19G>T)
c.1730G>T (p.Arg577Leu)
c.1778G>T (p.Arg593Leu)
c.1775G>T (p.Arg592Leu)
c.1742G>T (p.Arg581Leu)
 dbSNP
3g.189894241A=CA1428535204TP63c.1782A= (p.Arg594=)
c.1500A= (p.Arg500=)
c.*10A= (n.*10A=)
c.1770A= (p.Arg590=)
c.1245A= (p.Arg415=)
c.1488A= (p.Arg496=)
c.*20A= (n.*20A=)
c.1731A= (p.Arg577=)
c.1779A= (p.Arg593=)
c.1776A= (p.Arg592=)
c.1743A= (p.Arg581=)
3g.189894241A>CCA437636990TP63c.1782A>C (p.Arg594=)
c.1500A>C (p.Arg500=)
c.*10A>C (n.*10A>C)
c.1770A>C (p.Arg590=)
c.1245A>C (p.Arg415=)
c.1488A>C (p.Arg496=)
c.*20A>C (n.*20A>C)
c.1731A>C (p.Arg577=)
c.1779A>C (p.Arg593=)
c.1776A>C (p.Arg592=)
c.1743A>C (p.Arg581=)
3g.189894241A>GCA437636991TP63c.1782A>G (p.Arg594=)
c.1500A>G (p.Arg500=)
c.*10A>G (n.*10A>G)
c.1770A>G (p.Arg590=)
c.1245A>G (p.Arg415=)
c.1488A>G (p.Arg496=)
c.*20A>G (n.*20A>G)
c.1731A>G (p.Arg577=)
c.1779A>G (p.Arg593=)
c.1776A>G (p.Arg592=)
c.1743A>G (p.Arg581=)
 gnomAD v4
3g.189894241A>TCA89713246TP63c.1782A>T (p.Arg594=)
c.1500A>T (p.Arg500=)
c.*10A>T (n.*10A>T)
c.1770A>T (p.Arg590=)
c.1245A>T (p.Arg415=)
c.1488A>T (p.Arg496=)
c.*20A>T (n.*20A>T)
c.1731A>T (p.Arg577=)
c.1779A>T (p.Arg593=)
c.1776A>T (p.Arg592=)
c.1743A>T (p.Arg581=)
 dbSNP
3g.189894242C>ACA355751191TP63c.1783C>A (p.His595Asn)
c.1501C>A (p.His501Asn)
c.*11C>A (n.*11C>A)
c.1771C>A (p.His591Asn)
c.1246C>A (p.His416Asn)
c.1489C>A (p.His497Asn)
c.*21C>A (n.*21C>A)
c.1732C>A (p.His578Asn)
c.1780C>A (p.His594Asn)
c.1777C>A (p.His593Asn)
c.1744C>A (p.His582Asn)
 dbSNP
3g.189894242C>GCA355751192TP63c.1783C>G (p.His595Asp)
c.1501C>G (p.His501Asp)
c.*11C>G (n.*11C>G)
c.1771C>G (p.His591Asp)
c.1246C>G (p.His416Asp)
c.1489C>G (p.His497Asp)
c.*21C>G (n.*21C>G)
c.1732C>G (p.His578Asp)
c.1780C>G (p.His594Asp)
c.1777C>G (p.His593Asp)
c.1744C>G (p.His582Asp)
 dbSNP
3g.189894242C>TCA355751193TP63c.1783C>T (p.His595Tyr)
c.1501C>T (p.His501Tyr)
c.*11C>T (n.*11C>T)
c.1771C>T (p.His591Tyr)
c.1246C>T (p.His416Tyr)
c.1489C>T (p.His497Tyr)
c.*21C>T (n.*21C>T)
c.1732C>T (p.His578Tyr)
c.1780C>T (p.His594Tyr)
c.1777C>T (p.His593Tyr)
c.1744C>T (p.His582Tyr)
 dbSNP
3g.189894243A>CCA355751194TP63c.1784A>C (p.His595Pro)
c.1502A>C (p.His501Pro)
c.*12A>C (n.*12A>C)
c.1772A>C (p.His591Pro)
c.1247A>C (p.His416Pro)
c.1490A>C (p.His497Pro)
c.*22A>C (n.*22A>C)
c.1733A>C (p.His578Pro)
c.1781A>C (p.His594Pro)
c.1778A>C (p.His593Pro)
c.1745A>C (p.His582Pro)
3g.189894243A>GCA355751195TP63c.1784A>G (p.His595Arg)
c.1502A>G (p.His501Arg)
c.*12A>G (n.*12A>G)
c.1772A>G (p.His591Arg)
c.1247A>G (p.His416Arg)
c.1490A>G (p.His497Arg)
c.*22A>G (n.*22A>G)
c.1733A>G (p.His578Arg)
c.1781A>G (p.His594Arg)
c.1778A>G (p.His593Arg)
c.1745A>G (p.His582Arg)
3g.189894243A>TCA355751196TP63c.1784A>T (p.His595Leu)
c.1502A>T (p.His501Leu)
c.*12A>T (n.*12A>T)
c.1772A>T (p.His591Leu)
c.1247A>T (p.His416Leu)
c.1490A>T (p.His497Leu)
c.*22A>T (n.*22A>T)
c.1733A>T (p.His578Leu)
c.1781A>T (p.His594Leu)
c.1778A>T (p.His593Leu)
c.1745A>T (p.His582Leu)
 dbSNP
3g.189894244T>ACA355751197TP63c.1785T>A (p.His595Gln)
c.1503T>A (p.His501Gln)
c.*13T>A (n.*13T>A)
c.1773T>A (p.His591Gln)
c.1248T>A (p.His416Gln)
c.1491T>A (p.His497Gln)
c.*23T>A (n.*23T>A)
c.1734T>A (p.His578Gln)
c.1782T>A (p.His594Gln)
c.1779T>A (p.His593Gln)
c.1746T>A (p.His582Gln)
 dbSNP
3g.189894244T>CCA437636996TP63c.1785T>C (p.His595=)
c.1503T>C (p.His501=)
c.*13T>C (n.*13T>C)
c.1773T>C (p.His591=)
c.1248T>C (p.His416=)
c.1491T>C (p.His497=)
c.*23T>C (n.*23T>C)
c.1734T>C (p.His578=)
c.1782T>C (p.His594=)
c.1779T>C (p.His593=)
c.1746T>C (p.His582=)
 gnomAD v4
3g.189894244T>GCA355751198TP63c.1785T>G (p.His595Gln)
c.1503T>G (p.His501Gln)
c.*13T>G (n.*13T>G)
c.1773T>G (p.His591Gln)
c.1248T>G (p.His416Gln)
c.1491T>G (p.His497Gln)
c.*23T>G (n.*23T>G)
c.1734T>G (p.His578Gln)
c.1782T>G (p.His594Gln)
c.1779T>G (p.His593Gln)
c.1746T>G (p.His582Gln)
 dbSNP gnomAD v3 gnomAD v4
3g.189894244T=CA1428535205TP63c.1785T= (p.His595=)
c.1503T= (p.His501=)
c.*13T= (n.*13T=)
c.1773T= (p.His591=)
c.1248T= (p.His416=)
c.1491T= (p.His497=)
c.*23T= (n.*23T=)
c.1734T= (p.His578=)
c.1782T= (p.His594=)
c.1779T= (p.His593=)
c.1746T= (p.His582=)
3g.189894245G>ACA355751199TP63c.1786G>A (p.Ala596Thr)
c.1504G>A (p.Ala502Thr)
c.*14G>A (n.*14G>A)
c.1774G>A (p.Ala592Thr)
c.1249G>A (p.Ala417Thr)
c.1492G>A (p.Ala498Thr)
c.*24G>A (n.*24G>A)
c.1735G>A (p.Ala579Thr)
c.1783G>A (p.Ala595Thr)
c.1780G>A (p.Ala594Thr)
c.1747G>A (p.Ala583Thr)
 dbSNP
3g.189894245G>CCA355751200TP63c.1786G>C (p.Ala596Pro)
c.1504G>C (p.Ala502Pro)
c.*14G>C (n.*14G>C)
c.1774G>C (p.Ala592Pro)
c.1249G>C (p.Ala417Pro)
c.1492G>C (p.Ala498Pro)
c.*24G>C (n.*24G>C)
c.1735G>C (p.Ala579Pro)
c.1783G>C (p.Ala595Pro)
c.1780G>C (p.Ala594Pro)
c.1747G>C (p.Ala583Pro)
 dbSNP
3g.189894245G>TCA355751201TP63c.1786G>T (p.Ala596Ser)
c.1504G>T (p.Ala502Ser)
c.*14G>T (n.*14G>T)
c.1774G>T (p.Ala592Ser)
c.1249G>T (p.Ala417Ser)
c.1492G>T (p.Ala498Ser)
c.*24G>T (n.*24G>T)
c.1735G>T (p.Ala579Ser)
c.1783G>T (p.Ala595Ser)
c.1780G>T (p.Ala594Ser)
c.1747G>T (p.Ala583Ser)
3g.189894246C>ACA355751203TP63c.1787C>A (p.Ala596Glu)
c.1505C>A (p.Ala502Glu)
c.*15C>A (n.*15C>A)
c.1775C>A (p.Ala592Glu)
c.1250C>A (p.Ala417Glu)
c.1493C>A (p.Ala498Glu)
c.*25C>A (n.*25C>A)
c.1736C>A (p.Ala579Glu)
c.1784C>A (p.Ala595Glu)
c.1781C>A (p.Ala594Glu)
c.1748C>A (p.Ala583Glu)
 dbSNP gnomAD v4
3g.189894246C=CA1428535206TP63c.1787C= (p.Ala596=)
c.1505C= (p.Ala502=)
c.*15C= (n.*15C=)
c.1775C= (p.Ala592=)
c.1250C= (p.Ala417=)
c.1493C= (p.Ala498=)
c.*25C= (n.*25C=)
c.1736C= (p.Ala579=)
c.1784C= (p.Ala595=)
c.1781C= (p.Ala594=)
c.1748C= (p.Ala583=)
3g.189894246C>GCA355751202TP63c.1787C>G (p.Ala596Gly)
c.1505C>G (p.Ala502Gly)
c.*15C>G (n.*15C>G)
c.1775C>G (p.Ala592Gly)
c.1250C>G (p.Ala417Gly)
c.1493C>G (p.Ala498Gly)
c.*25C>G (n.*25C>G)
c.1736C>G (p.Ala579Gly)
c.1784C>G (p.Ala595Gly)
c.1781C>G (p.Ala594Gly)
c.1748C>G (p.Ala583Gly)
 dbSNP
3g.189894246C>TCA2752577TP63c.1787C>T (p.Ala596Val)
c.1505C>T (p.Ala502Val)
c.*15C>T (n.*15C>T)
c.1775C>T (p.Ala592Val)
c.1250C>T (p.Ala417Val)
c.1493C>T (p.Ala498Val)
c.*25C>T (n.*25C>T)
c.1736C>T (p.Ala579Val)
c.1784C>T (p.Ala595Val)
c.1781C>T (p.Ala594Val)
c.1748C>T (p.Ala583Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.189894247G>ACA2752578TP63c.1788G>A (p.Ala596=)
c.1506G>A (p.Ala502=)
c.*16G>A (n.*16G>A)
c.1776G>A (p.Ala592=)
c.1251G>A (p.Ala417=)
c.1494G>A (p.Ala498=)
c.*26G>A (n.*26G>A)
c.1737G>A (p.Ala579=)
c.1785G>A (p.Ala595=)
c.1782G>A (p.Ala594=)
c.1749G>A (p.Ala583=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.189894247G>CCA437637000TP63c.1788G>C (p.Ala596=)
c.1506G>C (p.Ala502=)
c.*16G>C (n.*16G>C)
c.1776G>C (p.Ala592=)
c.1251G>C (p.Ala417=)
c.1494G>C (p.Ala498=)
c.*26G>C (n.*26G>C)
c.1737G>C (p.Ala579=)
c.1785G>C (p.Ala595=)
c.1782G>C (p.Ala594=)
c.1749G>C (p.Ala583=)
 dbSNP gnomAD v4 COSMIC COSMIC
3g.189894247G=CA1428535207TP63c.1788G= (p.Ala596=)
c.1506G= (p.Ala502=)
c.*16G= (n.*16G=)
c.1776G= (p.Ala592=)
c.1251G= (p.Ala417=)
c.1494G= (p.Ala498=)
c.*26G= (n.*26G=)
c.1737G= (p.Ala579=)
c.1785G= (p.Ala595=)
c.1782G= (p.Ala594=)
c.1749G= (p.Ala583=)
3g.189894247G>TCA437637001TP63c.1788G>T (p.Ala596=)
c.1506G>T (p.Ala502=)
c.*16G>T (n.*16G>T)
c.1776G>T (p.Ala592=)
c.1251G>T (p.Ala417=)
c.1494G>T (p.Ala498=)
c.*26G>T (n.*26G>T)
c.1737G>T (p.Ala579=)
c.1785G>T (p.Ala595=)
c.1782G>T (p.Ala594=)
c.1749G>T (p.Ala583=)
 dbSNP
3g.189894248A>CCA355751204TP63c.1789A>C (p.Ile597Leu)
c.1507A>C (p.Ile503Leu)
c.*17A>C (n.*17A>C)
c.1777A>C (p.Ile593Leu)
c.1252A>C (p.Ile418Leu)
c.1495A>C (p.Ile499Leu)
c.*27A>C (n.*27A>C)
c.1738A>C (p.Ile580Leu)
c.1786A>C (p.Ile596Leu)
c.1783A>C (p.Ile595Leu)
c.1750A>C (p.Ile584Leu)
 dbSNP
3g.189894248A>GCA355751205TP63c.1789A>G (p.Ile597Val)
c.1507A>G (p.Ile503Val)
c.*17A>G (n.*17A>G)
c.1777A>G (p.Ile593Val)
c.1252A>G (p.Ile418Val)
c.1495A>G (p.Ile499Val)
c.*27A>G (n.*27A>G)
c.1738A>G (p.Ile580Val)
c.1786A>G (p.Ile596Val)
c.1783A>G (p.Ile595Val)
c.1750A>G (p.Ile584Val)
3g.189894248A>TCA355751206TP63c.1789A>T (p.Ile597Phe)
c.1507A>T (p.Ile503Phe)
c.*17A>T (n.*17A>T)
c.1777A>T (p.Ile593Phe)
c.1252A>T (p.Ile418Phe)
c.1495A>T (p.Ile499Phe)
c.*27A>T (n.*27A>T)
c.1738A>T (p.Ile580Phe)
c.1786A>T (p.Ile596Phe)
c.1783A>T (p.Ile595Phe)
c.1750A>T (p.Ile584Phe)
 ClinVar dbSNP
3g.189894249T>ACA355751207TP63c.1790T>A (p.Ile597Asn)
c.1508T>A (p.Ile503Asn)
c.*18T>A (n.*18T>A)
c.1778T>A (p.Ile593Asn)
c.1253T>A (p.Ile418Asn)
c.1496T>A (p.Ile499Asn)
c.*28T>A (n.*28T>A)
c.1739T>A (p.Ile580Asn)
c.1787T>A (p.Ile596Asn)
c.1784T>A (p.Ile595Asn)
c.1751T>A (p.Ile584Asn)
 dbSNP
3g.189894249T>CCA355751208TP63c.1790T>C (p.Ile597Thr)
c.1508T>C (p.Ile503Thr)
c.*18T>C (n.*18T>C)
c.1778T>C (p.Ile593Thr)
c.1253T>C (p.Ile418Thr)
c.1496T>C (p.Ile499Thr)
c.*28T>C (n.*28T>C)
c.1739T>C (p.Ile580Thr)
c.1787T>C (p.Ile596Thr)
c.1784T>C (p.Ile595Thr)
c.1751T>C (p.Ile584Thr)
 ClinVar dbSNP
3g.189894249T>GCA355751209TP63c.1790T>G (p.Ile597Ser)
c.1508T>G (p.Ile503Ser)
c.*18T>G (n.*18T>G)
c.1778T>G (p.Ile593Ser)
c.1253T>G (p.Ile418Ser)
c.1496T>G (p.Ile499Ser)
c.*28T>G (n.*28T>G)
c.1739T>G (p.Ile580Ser)
c.1787T>G (p.Ile596Ser)
c.1784T>G (p.Ile595Ser)
c.1751T>G (p.Ile584Ser)
3g.189894249T=CA1428535208TP63c.1790T= (p.Ile597=)
c.1508T= (p.Ile503=)
c.*18T= (n.*18T=)
c.1778T= (p.Ile593=)
c.1253T= (p.Ile418=)
c.1496T= (p.Ile499=)
c.*28T= (n.*28T=)
c.1739T= (p.Ile580=)
c.1787T= (p.Ile596=)
c.1784T= (p.Ile595=)
c.1751T= (p.Ile584=)
3g.189894250C>ACA437637003TP63c.1791C>A (p.Ile597=)
c.1509C>A (p.Ile503=)
c.*19C>A (n.*19C>A)
c.1779C>A (p.Ile593=)
c.1254C>A (p.Ile418=)
c.1497C>A (p.Ile499=)
c.*29C>A (n.*29C>A)
c.1740C>A (p.Ile580=)
c.1788C>A (p.Ile596=)
c.1785C>A (p.Ile595=)
c.1752C>A (p.Ile584=)
 dbSNP
3g.189894250C>GCA355751210TP63c.1791C>G (p.Ile597Met)
c.1509C>G (p.Ile503Met)
c.*19C>G (n.*19C>G)
c.1779C>G (p.Ile593Met)
c.1254C>G (p.Ile418Met)
c.1497C>G (p.Ile499Met)
c.*29C>G (n.*29C>G)
c.1740C>G (p.Ile580Met)
c.1788C>G (p.Ile596Met)
c.1785C>G (p.Ile595Met)
c.1752C>G (p.Ile584Met)
 dbSNP
3g.189894250C>TCA437637004TP63c.1791C>T (p.Ile597=)
c.1509C>T (p.Ile503=)
c.*19C>T (n.*19C>T)
c.1779C>T (p.Ile593=)
c.1254C>T (p.Ile418=)
c.1497C>T (p.Ile499=)
c.*29C>T (n.*29C>T)
c.1740C>T (p.Ile580=)
c.1788C>T (p.Ile596=)
c.1785C>T (p.Ile595=)
c.1752C>T (p.Ile584=)
 dbSNP
3g.189894251T>ACA355751211TP63c.1792T>A (p.Trp598Arg)
c.1510T>A (p.Trp504Arg)
c.*20T>A (n.*20T>A)
c.1780T>A (p.Trp594Arg)
c.1255T>A (p.Trp419Arg)
c.1498T>A (p.Trp500Arg)
c.*30T>A (n.*30T>A)
c.1741T>A (p.Trp581Arg)
c.1789T>A (p.Trp597Arg)
c.1786T>A (p.Trp596Arg)
c.1753T>A (p.Trp585Arg)
3g.189894251T>CCA355751212TP63c.1792T>C (p.Trp598Arg)
c.1510T>C (p.Trp504Arg)
c.*20T>C (n.*20T>C)
c.1780T>C (p.Trp594Arg)
c.1255T>C (p.Trp419Arg)
c.1498T>C (p.Trp500Arg)
c.*30T>C (n.*30T>C)
c.1741T>C (p.Trp581Arg)
c.1789T>C (p.Trp597Arg)
c.1786T>C (p.Trp596Arg)
c.1753T>C (p.Trp585Arg)
3g.189894251T>GCA355751213TP63c.1792T>G (p.Trp598Gly)
c.1510T>G (p.Trp504Gly)
c.*20T>G (n.*20T>G)
c.1780T>G (p.Trp594Gly)
c.1255T>G (p.Trp419Gly)
c.1498T>G (p.Trp500Gly)
c.*30T>G (n.*30T>G)
c.1741T>G (p.Trp581Gly)
c.1789T>G (p.Trp597Gly)
c.1786T>G (p.Trp596Gly)
c.1753T>G (p.Trp585Gly)
3g.189894252G>ACA355751216TP63c.1793G>A (p.Trp598Ter)
c.1511G>A (p.Trp504Ter)
c.*21G>A (n.*21G>A)
c.1781G>A (p.Trp594Ter)
c.1256G>A (p.Trp419Ter)
c.1499G>A (p.Trp500Ter)
c.*31G>A (n.*31G>A)
c.1742G>A (p.Trp581Ter)
c.1790G>A (p.Trp597Ter)
c.1787G>A (p.Trp596Ter)
c.1754G>A (p.Trp585Ter)
 dbSNP
3g.189894252G>CCA355751215TP63c.1793G>C (p.Trp598Ser)
c.1511G>C (p.Trp504Ser)
c.*21G>C (n.*21G>C)
c.1781G>C (p.Trp594Ser)
c.1256G>C (p.Trp419Ser)
c.1499G>C (p.Trp500Ser)
c.*31G>C (n.*31G>C)
c.1742G>C (p.Trp581Ser)
c.1790G>C (p.Trp597Ser)
c.1787G>C (p.Trp596Ser)
c.1754G>C (p.Trp585Ser)
 dbSNP
3g.189894252G>TCA355751214TP63c.1793G>T (p.Trp598Leu)
c.1511G>T (p.Trp504Leu)
c.*21G>T (n.*21G>T)
c.1781G>T (p.Trp594Leu)
c.1256G>T (p.Trp419Leu)
c.1499G>T (p.Trp500Leu)
c.*31G>T (n.*31G>T)
c.1742G>T (p.Trp581Leu)
c.1790G>T (p.Trp597Leu)
c.1787G>T (p.Trp596Leu)
c.1754G>T (p.Trp585Leu)
 dbSNP
3g.189894253G>ACA355751217TP63c.1794G>A (p.Trp598Ter)
c.1512G>A (p.Trp504Ter)
c.*22G>A (n.*22G>A)
c.1782G>A (p.Trp594Ter)
c.1257G>A (p.Trp419Ter)
c.1500G>A (p.Trp500Ter)
c.*32G>A (n.*32G>A)
c.1743G>A (p.Trp581Ter)
c.1791G>A (p.Trp597Ter)
c.1788G>A (p.Trp596Ter)
c.1755G>A (p.Trp585Ter)
 ClinVar dbSNP
3g.189894253G>CCA355751219TP63c.1794G>C (p.Trp598Cys)
c.1512G>C (p.Trp504Cys)
c.*22G>C (n.*22G>C)
c.1782G>C (p.Trp594Cys)
c.1257G>C (p.Trp419Cys)
c.1500G>C (p.Trp500Cys)
c.*32G>C (n.*32G>C)
c.1743G>C (p.Trp581Cys)
c.1791G>C (p.Trp597Cys)
c.1788G>C (p.Trp596Cys)
c.1755G>C (p.Trp585Cys)
 dbSNP
3g.189894253G=CA1428535209TP63c.1794G= (p.Trp598=)
c.1512G= (p.Trp504=)
c.*22G= (n.*22G=)
c.1782G= (p.Trp594=)
c.1257G= (p.Trp419=)
c.1500G= (p.Trp500=)
c.*32G= (n.*32G=)
c.1743G= (p.Trp581=)
c.1791G= (p.Trp597=)
c.1788G= (p.Trp596=)
c.1755G= (p.Trp585=)
3g.189894253G>TCA355751218TP63c.1794G>T (p.Trp598Cys)
c.1512G>T (p.Trp504Cys)
c.*22G>T (n.*22G>T)
c.1782G>T (p.Trp594Cys)
c.1257G>T (p.Trp419Cys)
c.1500G>T (p.Trp500Cys)
c.*32G>T (n.*32G>T)
c.1743G>T (p.Trp581Cys)
c.1791G>T (p.Trp597Cys)
c.1788G>T (p.Trp596Cys)
c.1755G>T (p.Trp585Cys)
3g.189894254A>CCA355751220TP63c.1795A>C (p.Lys599Gln)
c.1513A>C (p.Lys505Gln)
c.*23A>C (n.*23A>C)
c.1783A>C (p.Lys595Gln)
c.1258A>C (p.Lys420Gln)
c.1501A>C (p.Lys501Gln)
c.*33A>C (n.*33A>C)
c.1744A>C (p.Lys582Gln)
c.1792A>C (p.Lys598Gln)
c.1789A>C (p.Lys597Gln)
c.1756A>C (p.Lys586Gln)
3g.189894254A>GCA355751221TP63c.1795A>G (p.Lys599Glu)
c.1513A>G (p.Lys505Glu)
c.*23A>G (n.*23A>G)
c.1783A>G (p.Lys595Glu)
c.1258A>G (p.Lys420Glu)
c.1501A>G (p.Lys501Glu)
c.*33A>G (n.*33A>G)
c.1744A>G (p.Lys582Glu)
c.1792A>G (p.Lys598Glu)
c.1789A>G (p.Lys597Glu)
c.1756A>G (p.Lys586Glu)
3g.189894254A>TCA355751222TP63c.1795A>T (p.Lys599Ter)
c.1513A>T (p.Lys505Ter)
c.*23A>T (n.*23A>T)
c.1783A>T (p.Lys595Ter)
c.1258A>T (p.Lys420Ter)
c.1501A>T (p.Lys501Ter)
c.*33A>T (n.*33A>T)
c.1744A>T (p.Lys582Ter)
c.1792A>T (p.Lys598Ter)
c.1789A>T (p.Lys597Ter)
c.1756A>T (p.Lys586Ter)
 dbSNP
3g.189894255A>CCA355751223TP63c.1796A>C (p.Lys599Thr)
c.1514A>C (p.Lys505Thr)
c.*24A>C (n.*24A>C)
c.1784A>C (p.Lys595Thr)
c.1259A>C (p.Lys420Thr)
c.1502A>C (p.Lys501Thr)
c.*34A>C (n.*34A>C)
c.1745A>C (p.Lys582Thr)
c.1793A>C (p.Lys598Thr)
c.1790A>C (p.Lys597Thr)
c.1757A>C (p.Lys586Thr)
3g.189894255A>GCA355751224TP63c.1796A>G (p.Lys599Arg)
c.1514A>G (p.Lys505Arg)
c.*24A>G (n.*24A>G)
c.1784A>G (p.Lys595Arg)
c.1259A>G (p.Lys420Arg)
c.1502A>G (p.Lys501Arg)
c.*34A>G (n.*34A>G)
c.1745A>G (p.Lys582Arg)
c.1793A>G (p.Lys598Arg)
c.1790A>G (p.Lys597Arg)
c.1757A>G (p.Lys586Arg)
 dbSNP
3g.189894255A>TCA355751225TP63c.1796A>T (p.Lys599Met)
c.1514A>T (p.Lys505Met)
c.*24A>T (n.*24A>T)
c.1784A>T (p.Lys595Met)
c.1259A>T (p.Lys420Met)
c.1502A>T (p.Lys501Met)
c.*34A>T (n.*34A>T)
c.1745A>T (p.Lys582Met)
c.1793A>T (p.Lys598Met)
c.1790A>T (p.Lys597Met)
c.1757A>T (p.Lys586Met)
 dbSNP
3g.189894256G>ACA2752579TP63c.1797G>A (p.Lys599=)
c.1515G>A (p.Lys505=)
c.*25G>A (n.*25G>A)
c.1785G>A (p.Lys595=)
c.1260G>A (p.Lys420=)
c.1503G>A (p.Lys501=)
c.*35G>A (n.*35G>A)
c.1746G>A (p.Lys582=)
c.1794G>A (p.Lys598=)
c.1791G>A (p.Lys597=)
c.1758G>A (p.Lys586=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894256G>CCA355751227TP63c.1797G>C (p.Lys599Asn)
c.1515G>C (p.Lys505Asn)
c.*25G>C (n.*25G>C)
c.1785G>C (p.Lys595Asn)
c.1260G>C (p.Lys420Asn)
c.1503G>C (p.Lys501Asn)
c.*35G>C (n.*35G>C)
c.1746G>C (p.Lys582Asn)
c.1794G>C (p.Lys598Asn)
c.1791G>C (p.Lys597Asn)
c.1758G>C (p.Lys586Asn)
 dbSNP
3g.189894256G=CA1428535210TP63c.1797G= (p.Lys599=)
c.1515G= (p.Lys505=)
c.*25G= (n.*25G=)
c.1785G= (p.Lys595=)
c.1260G= (p.Lys420=)
c.1503G= (p.Lys501=)
c.*35G= (n.*35G=)
c.1746G= (p.Lys582=)
c.1794G= (p.Lys598=)
c.1791G= (p.Lys597=)
c.1758G= (p.Lys586=)
3g.189894256G>TCA355751226TP63c.1797G>T (p.Lys599Asn)
c.1515G>T (p.Lys505Asn)
c.*25G>T (n.*25G>T)
c.1785G>T (p.Lys595Asn)
c.1260G>T (p.Lys420Asn)
c.1503G>T (p.Lys501Asn)
c.*35G>T (n.*35G>T)
c.1746G>T (p.Lys582Asn)
c.1794G>T (p.Lys598Asn)
c.1791G>T (p.Lys597Asn)
c.1758G>T (p.Lys586Asn)
 dbSNP
3g.189894257G>ACA355751228TP63c.1798G>A (p.Gly600Ser)
c.1516G>A (p.Gly506Ser)
c.*26G>A (n.*26G>A)
c.1786G>A (p.Gly596Ser)
c.1261G>A (p.Gly421Ser)
c.1504G>A (p.Gly502Ser)
c.*36G>A (n.*36G>A)
c.1747G>A (p.Gly583Ser)
c.1795G>A (p.Gly599Ser)
c.1792G>A (p.Gly598Ser)
c.1759G>A (p.Gly587Ser)
 dbSNP
3g.189894257G>CCA355751229TP63c.1798G>C (p.Gly600Arg)
c.1516G>C (p.Gly506Arg)
c.*26G>C (n.*26G>C)
c.1786G>C (p.Gly596Arg)
c.1261G>C (p.Gly421Arg)
c.1504G>C (p.Gly502Arg)
c.*36G>C (n.*36G>C)
c.1747G>C (p.Gly583Arg)
c.1795G>C (p.Gly599Arg)
c.1792G>C (p.Gly598Arg)
c.1759G>C (p.Gly587Arg)
 dbSNP
3g.189894257G>TCA355751230TP63c.1798G>T (p.Gly600Cys)
c.1516G>T (p.Gly506Cys)
c.*26G>T (n.*26G>T)
c.1786G>T (p.Gly596Cys)
c.1261G>T (p.Gly421Cys)
c.1504G>T (p.Gly502Cys)
c.*36G>T (n.*36G>T)
c.1747G>T (p.Gly583Cys)
c.1795G>T (p.Gly599Cys)
c.1792G>T (p.Gly598Cys)
c.1759G>T (p.Gly587Cys)
 dbSNP
3g.189894258G>ACA355751231TP63c.1799G>A (p.Gly600Asp)
c.1517G>A (p.Gly506Asp)
c.*27G>A (n.*27G>A)
c.1787G>A (p.Gly596Asp)
c.1262G>A (p.Gly421Asp)
c.1505G>A (p.Gly502Asp)
c.*37G>A (n.*37G>A)
c.1748G>A (p.Gly583Asp)
c.1796G>A (p.Gly599Asp)
c.1793G>A (p.Gly598Asp)
c.1760G>A (p.Gly587Asp)
 ClinVar dbSNP
3g.189894258G>CCA355751232TP63c.1799G>C (p.Gly600Ala)
c.1517G>C (p.Gly506Ala)
c.*27G>C (n.*27G>C)
c.1787G>C (p.Gly596Ala)
c.1262G>C (p.Gly421Ala)
c.1505G>C (p.Gly502Ala)
c.*37G>C (n.*37G>C)
c.1748G>C (p.Gly583Ala)
c.1796G>C (p.Gly599Ala)
c.1793G>C (p.Gly598Ala)
c.1760G>C (p.Gly587Ala)
 dbSNP
3g.189894258G=CA1428535211TP63c.1799G= (p.Gly600=)
c.1517G= (p.Gly506=)
c.*27G= (n.*27G=)
c.1787G= (p.Gly596=)
c.1262G= (p.Gly421=)
c.1505G= (p.Gly502=)
c.*37G= (n.*37G=)
c.1748G= (p.Gly583=)
c.1796G= (p.Gly599=)
c.1793G= (p.Gly598=)
c.1760G= (p.Gly587=)
3g.189894258G>TCA355751233TP63c.1799G>T (p.Gly600Val)
c.1517G>T (p.Gly506Val)
c.*27G>T (n.*27G>T)
c.1787G>T (p.Gly596Val)
c.1262G>T (p.Gly421Val)
c.1505G>T (p.Gly502Val)
c.*37G>T (n.*37G>T)
c.1748G>T (p.Gly583Val)
c.1796G>T (p.Gly599Val)
c.1793G>T (p.Gly598Val)
c.1760G>T (p.Gly587Val)
3g.189894259C>ACA437637012TP63c.1800C>A (p.Gly600=)
c.1518C>A (p.Gly506=)
c.*28C>A (n.*28C>A)
c.1788C>A (p.Gly596=)
c.1263C>A (p.Gly421=)
c.1506C>A (p.Gly502=)
c.*38C>A (n.*38C>A)
c.1749C>A (p.Gly583=)
c.1797C>A (p.Gly599=)
c.1794C>A (p.Gly598=)
c.1761C>A (p.Gly587=)
 dbSNP
3g.189894259C>GCA437637014TP63c.1800C>G (p.Gly600=)
c.1518C>G (p.Gly506=)
c.*28C>G (n.*28C>G)
c.1788C>G (p.Gly596=)
c.1263C>G (p.Gly421=)
c.1506C>G (p.Gly502=)
c.*38C>G (n.*38C>G)
c.1749C>G (p.Gly583=)
c.1797C>G (p.Gly599=)
c.1794C>G (p.Gly598=)
c.1761C>G (p.Gly587=)
 dbSNP
3g.189894259C>TCA437637013TP63c.1800C>T (p.Gly600=)
c.1518C>T (p.Gly506=)
c.*28C>T (n.*28C>T)
c.1788C>T (p.Gly596=)
c.1263C>T (p.Gly421=)
c.1506C>T (p.Gly502=)
c.*38C>T (n.*38C>T)
c.1749C>T (p.Gly583=)
c.1797C>T (p.Gly599=)
c.1794C>T (p.Gly598=)
c.1761C>T (p.Gly587=)
 dbSNP gnomAD v4
3g.189894260A>CCA355751234TP63c.1801A>C (p.Ile601Leu)
c.1519A>C (p.Ile507Leu)
c.*29A>C (n.*29A>C)
c.1789A>C (p.Ile597Leu)
c.1264A>C (p.Ile422Leu)
c.1507A>C (p.Ile503Leu)
c.*39A>C (n.*39A>C)
c.1750A>C (p.Ile584Leu)
c.1798A>C (p.Ile600Leu)
c.1795A>C (p.Ile599Leu)
c.1762A>C (p.Ile588Leu)
3g.189894260A>GCA355751236TP63c.1801A>G (p.Ile601Val)
c.1519A>G (p.Ile507Val)
c.*29A>G (n.*29A>G)
c.1789A>G (p.Ile597Val)
c.1264A>G (p.Ile422Val)
c.1507A>G (p.Ile503Val)
c.*39A>G (n.*39A>G)
c.1750A>G (p.Ile584Val)
c.1798A>G (p.Ile600Val)
c.1795A>G (p.Ile599Val)
c.1762A>G (p.Ile588Val)
3g.189894260A>TCA355751235TP63c.1801A>T (p.Ile601Phe)
c.1519A>T (p.Ile507Phe)
c.*29A>T (n.*29A>T)
c.1789A>T (p.Ile597Phe)
c.1264A>T (p.Ile422Phe)
c.1507A>T (p.Ile503Phe)
c.*39A>T (n.*39A>T)
c.1750A>T (p.Ile584Phe)
c.1798A>T (p.Ile600Phe)
c.1795A>T (p.Ile599Phe)
c.1762A>T (p.Ile588Phe)
 dbSNP
3g.189894261T>ACA355751237TP63c.1802T>A (p.Ile601Asn)
c.1520T>A (p.Ile507Asn)
c.*30T>A (n.*30T>A)
c.1790T>A (p.Ile597Asn)
c.1265T>A (p.Ile422Asn)
c.1508T>A (p.Ile503Asn)
c.*40T>A (n.*40T>A)
c.1751T>A (p.Ile584Asn)
c.1799T>A (p.Ile600Asn)
c.1796T>A (p.Ile599Asn)
c.1763T>A (p.Ile588Asn)
 dbSNP
3g.189894261T>CCA355751238TP63c.1802T>C (p.Ile601Thr)
c.1520T>C (p.Ile507Thr)
c.*30T>C (n.*30T>C)
c.1790T>C (p.Ile597Thr)
c.1265T>C (p.Ile422Thr)
c.1508T>C (p.Ile503Thr)
c.*40T>C (n.*40T>C)
c.1751T>C (p.Ile584Thr)
c.1799T>C (p.Ile600Thr)
c.1796T>C (p.Ile599Thr)
c.1763T>C (p.Ile588Thr)
 ClinVar dbSNP
3g.189894261T>GCA355751239TP63c.1802T>G (p.Ile601Ser)
c.1520T>G (p.Ile507Ser)
c.*30T>G (n.*30T>G)
c.1790T>G (p.Ile597Ser)
c.1265T>G (p.Ile422Ser)
c.1508T>G (p.Ile503Ser)
c.*40T>G (n.*40T>G)
c.1751T>G (p.Ile584Ser)
c.1799T>G (p.Ile600Ser)
c.1796T>G (p.Ile599Ser)
c.1763T>G (p.Ile588Ser)
3g.189894262C>ACA437637020TP63c.1803C>A (p.Ile601=)
c.1521C>A (p.Ile507=)
c.*31C>A (n.*31C>A)
c.1791C>A (p.Ile597=)
c.1266C>A (p.Ile422=)
c.1509C>A (p.Ile503=)
c.*41C>A (n.*41C>A)
c.1752C>A (p.Ile584=)
c.1800C>A (p.Ile600=)
c.1797C>A (p.Ile599=)
c.1764C>A (p.Ile588=)
 dbSNP
3g.189894262C=CA1428535212TP63c.1803C= (p.Ile601=)
c.1521C= (p.Ile507=)
c.*31C= (n.*31C=)
c.1791C= (p.Ile597=)
c.1266C= (p.Ile422=)
c.1509C= (p.Ile503=)
c.*41C= (n.*41C=)
c.1752C= (p.Ile584=)
c.1800C= (p.Ile600=)
c.1797C= (p.Ile599=)
c.1764C= (p.Ile588=)
3g.189894262C>GCA355751240TP63c.1803C>G (p.Ile601Met)
c.1521C>G (p.Ile507Met)
c.*31C>G (n.*31C>G)
c.1791C>G (p.Ile597Met)
c.1266C>G (p.Ile422Met)
c.1509C>G (p.Ile503Met)
c.*41C>G (n.*41C>G)
c.1752C>G (p.Ile584Met)
c.1800C>G (p.Ile600Met)
c.1797C>G (p.Ile599Met)
c.1764C>G (p.Ile588Met)
 dbSNP
3g.189894262C>TCA2752580TP63c.1803C>T (p.Ile601=)
c.1521C>T (p.Ile507=)
c.*31C>T (n.*31C>T)
c.1791C>T (p.Ile597=)
c.1266C>T (p.Ile422=)
c.1509C>T (p.Ile503=)
c.*41C>T (n.*41C>T)
c.1752C>T (p.Ile584=)
c.1800C>T (p.Ile600=)
c.1797C>T (p.Ile599=)
c.1764C>T (p.Ile588=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894263C>ACA355751241TP63c.1804C>A (p.Leu602Met)
c.1522C>A (p.Leu508Met)
c.*32C>A (n.*32C>A)
c.1792C>A (p.Leu598Met)
c.1267C>A (p.Leu423Met)
c.1510C>A (p.Leu504Met)
c.*42C>A (n.*42C>A)
c.1753C>A (p.Leu585Met)
c.1801C>A (p.Leu601Met)
c.1798C>A (p.Leu600Met)
c.1765C>A (p.Leu589Met)
3g.189894263C>GCA355751242TP63c.1804C>G (p.Leu602Val)
c.1522C>G (p.Leu508Val)
c.*32C>G (n.*32C>G)
c.1792C>G (p.Leu598Val)
c.1267C>G (p.Leu423Val)
c.1510C>G (p.Leu504Val)
c.*42C>G (n.*42C>G)
c.1753C>G (p.Leu585Val)
c.1801C>G (p.Leu601Val)
c.1798C>G (p.Leu600Val)
c.1765C>G (p.Leu589Val)
3g.189894263C>TCA437637021TP63c.1804C>T (p.Leu602=)
c.1522C>T (p.Leu508=)
c.*32C>T (n.*32C>T)
c.1792C>T (p.Leu598=)
c.1267C>T (p.Leu423=)
c.1510C>T (p.Leu504=)
c.*42C>T (n.*42C>T)
c.1753C>T (p.Leu585=)
c.1801C>T (p.Leu601=)
c.1798C>T (p.Leu600=)
c.1765C>T (p.Leu589=)
 dbSNP
3g.189894264T>ACA2752581TP63c.1805T>A (p.Leu602Gln)
c.1523T>A (p.Leu508Gln)
c.*33T>A (n.*33T>A)
c.1793T>A (p.Leu598Gln)
c.1268T>A (p.Leu423Gln)
c.1511T>A (p.Leu504Gln)
c.*43T>A (n.*43T>A)
c.1754T>A (p.Leu585Gln)
c.1802T>A (p.Leu601Gln)
c.1799T>A (p.Leu600Gln)
c.1766T>A (p.Leu589Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894264T>CCA16604847TP63c.1805T>C (p.Leu602Pro)
c.1523T>C (p.Leu508Pro)
c.*33T>C (n.*33T>C)
c.1793T>C (p.Leu598Pro)
c.1268T>C (p.Leu423Pro)
c.1511T>C (p.Leu504Pro)
c.*43T>C (n.*43T>C)
c.1754T>C (p.Leu585Pro)
c.1802T>C (p.Leu601Pro)
c.1799T>C (p.Leu600Pro)
c.1766T>C (p.Leu589Pro)
 ClinVar dbSNP
3g.189894264T>GCA355751243TP63c.1805T>G (p.Leu602Arg)
c.1523T>G (p.Leu508Arg)
c.*33T>G (n.*33T>G)
c.1793T>G (p.Leu598Arg)
c.1268T>G (p.Leu423Arg)
c.1511T>G (p.Leu504Arg)
c.*43T>G (n.*43T>G)
c.1754T>G (p.Leu585Arg)
c.1802T>G (p.Leu601Arg)
c.1799T>G (p.Leu600Arg)
c.1766T>G (p.Leu589Arg)
3g.189894264T=CA1428535213TP63c.1805T= (p.Leu602=)
c.1523T= (p.Leu508=)
c.*33T= (n.*33T=)
c.1793T= (p.Leu598=)
c.1268T= (p.Leu423=)
c.1511T= (p.Leu504=)
c.*43T= (n.*43T=)
c.1754T= (p.Leu585=)
c.1802T= (p.Leu601=)
c.1799T= (p.Leu600=)
c.1766T= (p.Leu589=)
3g.189894265G>ACA89713262TP63c.1806G>A (p.Leu602=)
c.1524G>A (p.Leu508=)
c.*34G>A (n.*34G>A)
c.1794G>A (p.Leu598=)
c.1269G>A (p.Leu423=)
c.1512G>A (p.Leu504=)
c.*44G>A (n.*44G>A)
c.1755G>A (p.Leu585=)
c.1803G>A (p.Leu601=)
c.1800G>A (p.Leu600=)
c.1767G>A (p.Leu589=)
 dbSNP gnomAD v4
3g.189894265G>CCA437637022TP63c.1806G>C (p.Leu602=)
c.1524G>C (p.Leu508=)
c.*34G>C (n.*34G>C)
c.1794G>C (p.Leu598=)
c.1269G>C (p.Leu423=)
c.1512G>C (p.Leu504=)
c.*44G>C (n.*44G>C)
c.1755G>C (p.Leu585=)
c.1803G>C (p.Leu601=)
c.1800G>C (p.Leu600=)
c.1767G>C (p.Leu589=)
 dbSNP
3g.189894265G=CA1428535214TP63c.1806G= (p.Leu602=)
c.1524G= (p.Leu508=)
c.*34G= (n.*34G=)
c.1794G= (p.Leu598=)
c.1269G= (p.Leu423=)
c.1512G= (p.Leu504=)
c.*44G= (n.*44G=)
c.1755G= (p.Leu585=)
c.1803G= (p.Leu601=)
c.1800G= (p.Leu600=)
c.1767G= (p.Leu589=)
3g.189894265G>TCA437637023TP63c.1806G>T (p.Leu602=)
c.1524G>T (p.Leu508=)
c.*34G>T (n.*34G>T)
c.1794G>T (p.Leu598=)
c.1269G>T (p.Leu423=)
c.1512G>T (p.Leu504=)
c.*44G>T (n.*44G>T)
c.1755G>T (p.Leu585=)
c.1803G>T (p.Leu601=)
c.1800G>T (p.Leu600=)
c.1767G>T (p.Leu589=)
 dbSNP gnomAD v3 gnomAD v4
3g.189894266G>ACA355751244TP63c.1807G>A (p.Asp603Asn)
c.1525G>A (p.Asp509Asn)
c.*35G>A (n.*35G>A)
c.1795G>A (p.Asp599Asn)
c.1270G>A (p.Asp424Asn)
c.1513G>A (p.Asp505Asn)
c.*45G>A (n.*45G>A)
c.1756G>A (p.Asp586Asn)
c.1804G>A (p.Asp602Asn)
c.1801G>A (p.Asp601Asn)
c.1768G>A (p.Asp590Asn)
 dbSNP gnomAD v4
3g.189894266G>CCA2752582TP63c.1807G>C (p.Asp603His)
c.1525G>C (p.Asp509His)
c.*35G>C (n.*35G>C)
c.1795G>C (p.Asp599His)
c.1270G>C (p.Asp424His)
c.1513G>C (p.Asp505His)
c.*45G>C (n.*45G>C)
c.1756G>C (p.Asp586His)
c.1804G>C (p.Asp602His)
c.1801G>C (p.Asp601His)
c.1768G>C (p.Asp590His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894266G=CA1428535215TP63c.1807G= (p.Asp603=)
c.1525G= (p.Asp509=)
c.*35G= (n.*35G=)
c.1795G= (p.Asp599=)
c.1270G= (p.Asp424=)
c.1513G= (p.Asp505=)
c.*45G= (n.*45G=)
c.1756G= (p.Asp586=)
c.1804G= (p.Asp602=)
c.1801G= (p.Asp601=)
c.1768G= (p.Asp590=)
3g.189894266G>TCA355751245TP63c.1807G>T (p.Asp603Tyr)
c.1525G>T (p.Asp509Tyr)
c.*35G>T (n.*35G>T)
c.1795G>T (p.Asp599Tyr)
c.1270G>T (p.Asp424Tyr)
c.1513G>T (p.Asp505Tyr)
c.*45G>T (n.*45G>T)
c.1756G>T (p.Asp586Tyr)
c.1804G>T (p.Asp602Tyr)
c.1801G>T (p.Asp601Tyr)
c.1768G>T (p.Asp590Tyr)
 dbSNP
3g.189894267A=CA1428535217TP63c.1808A= (p.Asp603=)
c.1526A= (p.Asp509=)
c.*36A= (n.*36A=)
c.1796A= (p.Asp599=)
c.1271A= (p.Asp424=)
c.1514A= (p.Asp505=)
c.*46A= (n.*46A=)
c.1757A= (p.Asp586=)
c.1805A= (p.Asp602=)
c.1802A= (p.Asp601=)
c.1769A= (p.Asp590=)
3g.189894267A>CCA355751246TP63c.1808A>C (p.Asp603Ala)
c.1526A>C (p.Asp509Ala)
c.*36A>C (n.*36A>C)
c.1796A>C (p.Asp599Ala)
c.1271A>C (p.Asp424Ala)
c.1514A>C (p.Asp505Ala)
c.*46A>C (n.*46A>C)
c.1757A>C (p.Asp586Ala)
c.1805A>C (p.Asp602Ala)
c.1802A>C (p.Asp601Ala)
c.1769A>C (p.Asp590Ala)
 dbSNP
3g.189894267A>GCA355751247TP63c.1808A>G (p.Asp603Gly)
c.1526A>G (p.Asp509Gly)
c.*36A>G (n.*36A>G)
c.1796A>G (p.Asp599Gly)
c.1271A>G (p.Asp424Gly)
c.1514A>G (p.Asp505Gly)
c.*46A>G (n.*46A>G)
c.1757A>G (p.Asp586Gly)
c.1805A>G (p.Asp602Gly)
c.1802A>G (p.Asp601Gly)
c.1769A>G (p.Asp590Gly)
 dbSNP gnomAD v4
3g.189894267A>TCA355751248TP63c.1808A>T (p.Asp603Val)
c.1526A>T (p.Asp509Val)
c.*36A>T (n.*36A>T)
c.1796A>T (p.Asp599Val)
c.1271A>T (p.Asp424Val)
c.1514A>T (p.Asp505Val)
c.*46A>T (n.*46A>T)
c.1757A>T (p.Asp586Val)
c.1805A>T (p.Asp602Val)
c.1802A>T (p.Asp601Val)
c.1769A>T (p.Asp590Val)
3g.189894270_189894272dupCA1428535216TP63c.1811_1813dup (p.His604_Arg605insHis)
c.1529_1531dup (p.His510_Arg511insHis)
c.*39_*41dup (n.*39_*41dup)
c.1799_1801dup (p.His600_Arg601insHis)
c.1274_1276dup (p.His425_Arg426insHis)
c.1517_1519dup (p.His506_Arg507insHis)
c.*49_*51dup (n.*49_*51dup)
c.1760_1762dup (p.His587_Arg588insHis)
c.1808_1810dup (p.His603_Arg604insHis)
c.1805_1807dup (p.His602_Arg603insHis)
c.1772_1774dup (p.His591_Arg592insHis)
 dbSNP
3g.189894268C>ACA355751249TP63c.1809C>A (p.Asp603Glu)
c.1527C>A (p.Asp509Glu)
c.*37C>A (n.*37C>A)
c.1797C>A (p.Asp599Glu)
c.1272C>A (p.Asp424Glu)
c.1515C>A (p.Asp505Glu)
c.*47C>A (n.*47C>A)
c.1758C>A (p.Asp586Glu)
c.1806C>A (p.Asp602Glu)
c.1803C>A (p.Asp601Glu)
c.1770C>A (p.Asp590Glu)
3g.189894268C>GCA355751250TP63c.1809C>G (p.Asp603Glu)
c.1527C>G (p.Asp509Glu)
c.*37C>G (n.*37C>G)
c.1797C>G (p.Asp599Glu)
c.1272C>G (p.Asp424Glu)
c.1515C>G (p.Asp505Glu)
c.*47C>G (n.*47C>G)
c.1758C>G (p.Asp586Glu)
c.1806C>G (p.Asp602Glu)
c.1803C>G (p.Asp601Glu)
c.1770C>G (p.Asp590Glu)
3g.189894268C>TCA437637024TP63c.1809C>T (p.Asp603=)
c.1527C>T (p.Asp509=)
c.*37C>T (n.*37C>T)
c.1797C>T (p.Asp599=)
c.1272C>T (p.Asp424=)
c.1515C>T (p.Asp505=)
c.*47C>T (n.*47C>T)
c.1758C>T (p.Asp586=)
c.1806C>T (p.Asp602=)
c.1803C>T (p.Asp601=)
c.1770C>T (p.Asp590=)
3g.189894269delCA2739289648TP63c.1810del (p.His604ThrfsTer?)
c.1528del (p.His510ThrfsTer?)
c.*38del (n.*38del)
c.1798del (p.His600ThrfsTer?)
c.1273del (p.His425ThrfsTer?)
c.1516del (p.His506ThrfsTer?)
c.*48del (n.*48del)
c.1759del (p.His587ThrfsTer?)
c.1807del (p.His603ThrfsTer?)
c.1804del (p.His602ThrfsTer?)
c.1771del (p.His591ThrfsTer?)
3g.189894269C>ACA355751251TP63c.1810C>A (p.His604Asn)
c.1528C>A (p.His510Asn)
c.*38C>A (n.*38C>A)
c.1798C>A (p.His600Asn)
c.1273C>A (p.His425Asn)
c.1516C>A (p.His506Asn)
c.*48C>A (n.*48C>A)
c.1759C>A (p.His587Asn)
c.1807C>A (p.His603Asn)
c.1804C>A (p.His602Asn)
c.1771C>A (p.His591Asn)
 dbSNP
3g.189894269C>GCA355751252TP63c.1810C>G (p.His604Asp)
c.1528C>G (p.His510Asp)
c.*38C>G (n.*38C>G)
c.1798C>G (p.His600Asp)
c.1273C>G (p.His425Asp)
c.1516C>G (p.His506Asp)
c.*48C>G (n.*48C>G)
c.1759C>G (p.His587Asp)
c.1807C>G (p.His603Asp)
c.1804C>G (p.His602Asp)
c.1771C>G (p.His591Asp)
 dbSNP
3g.189894269C>TCA355751253TP63c.1810C>T (p.His604Tyr)
c.1528C>T (p.His510Tyr)
c.*38C>T (n.*38C>T)
c.1798C>T (p.His600Tyr)
c.1273C>T (p.His425Tyr)
c.1516C>T (p.His506Tyr)
c.*48C>T (n.*48C>T)
c.1759C>T (p.His587Tyr)
c.1807C>T (p.His603Tyr)
c.1804C>T (p.His602Tyr)
c.1771C>T (p.His591Tyr)
 dbSNP
3g.189894270A>CCA355751254TP63c.1811A>C (p.His604Pro)
c.1529A>C (p.His510Pro)
c.*39A>C (n.*39A>C)
c.1799A>C (p.His600Pro)
c.1274A>C (p.His425Pro)
c.1517A>C (p.His506Pro)
c.*49A>C (n.*49A>C)
c.1760A>C (p.His587Pro)
c.1808A>C (p.His603Pro)
c.1805A>C (p.His602Pro)
c.1772A>C (p.His591Pro)
 dbSNP
3g.189894270A>GCA355751255TP63c.1811A>G (p.His604Arg)
c.1529A>G (p.His510Arg)
c.*39A>G (n.*39A>G)
c.1799A>G (p.His600Arg)
c.1274A>G (p.His425Arg)
c.1517A>G (p.His506Arg)
c.*49A>G (n.*49A>G)
c.1760A>G (p.His587Arg)
c.1808A>G (p.His603Arg)
c.1805A>G (p.His602Arg)
c.1772A>G (p.His591Arg)
3g.189894270A>TCA355751256TP63c.1811A>T (p.His604Leu)
c.1529A>T (p.His510Leu)
c.*39A>T (n.*39A>T)
c.1799A>T (p.His600Leu)
c.1274A>T (p.His425Leu)
c.1517A>T (p.His506Leu)
c.*49A>T (n.*49A>T)
c.1760A>T (p.His587Leu)
c.1808A>T (p.His603Leu)
c.1805A>T (p.His602Leu)
c.1772A>T (p.His591Leu)
 dbSNP
3g.189894271C>ACA355751257TP63c.1812C>A (p.His604Gln)
c.1530C>A (p.His510Gln)
c.*40C>A (n.*40C>A)
c.1800C>A (p.His600Gln)
c.1275C>A (p.His425Gln)
c.1518C>A (p.His506Gln)
c.*50C>A (n.*50C>A)
c.1761C>A (p.His587Gln)
c.1809C>A (p.His603Gln)
c.1806C>A (p.His602Gln)
c.1773C>A (p.His591Gln)
3g.189894271C>GCA355751258TP63c.1812C>G (p.His604Gln)
c.1530C>G (p.His510Gln)
c.*40C>G (n.*40C>G)
c.1800C>G (p.His600Gln)
c.1275C>G (p.His425Gln)
c.1518C>G (p.His506Gln)
c.*50C>G (n.*50C>G)
c.1761C>G (p.His587Gln)
c.1809C>G (p.His603Gln)
c.1806C>G (p.His602Gln)
c.1773C>G (p.His591Gln)
 dbSNP
3g.189894271C>TCA437637025TP63c.1812C>T (p.His604=)
c.1530C>T (p.His510=)
c.*40C>T (n.*40C>T)
c.1800C>T (p.His600=)
c.1275C>T (p.His425=)
c.1518C>T (p.His506=)
c.*50C>T (n.*50C>T)
c.1761C>T (p.His587=)
c.1809C>T (p.His603=)
c.1806C>T (p.His602=)
c.1773C>T (p.His591=)
 dbSNP gnomAD v4
3g.189894272C>ACA437637026TP63c.1813C>A (p.Arg605=)
c.1531C>A (p.Arg511=)
c.*41C>A (n.*41C>A)
c.1801C>A (p.Arg601=)
c.1276C>A (p.Arg426=)
c.1519C>A (p.Arg507=)
c.*51C>A (n.*51C>A)
c.1762C>A (p.Arg588=)
c.1810C>A (p.Arg604=)
c.1807C>A (p.Arg603=)
c.1774C>A (p.Arg592=)
 dbSNP gnomAD v4
3g.189894272C=CA1428535218TP63c.1813C= (p.Arg605=)
c.1531C= (p.Arg511=)
c.*41C= (n.*41C=)
c.1801C= (p.Arg601=)
c.1276C= (p.Arg426=)
c.1519C= (p.Arg507=)
c.*51C= (n.*51C=)
c.1762C= (p.Arg588=)
c.1810C= (p.Arg604=)
c.1807C= (p.Arg603=)
c.1774C= (p.Arg592=)
3g.189894272C>GCA355751259TP63c.1813C>G (p.Arg605Gly)
c.1531C>G (p.Arg511Gly)
c.*41C>G (n.*41C>G)
c.1801C>G (p.Arg601Gly)
c.1276C>G (p.Arg426Gly)
c.1519C>G (p.Arg507Gly)
c.*51C>G (n.*51C>G)
c.1762C>G (p.Arg588Gly)
c.1810C>G (p.Arg604Gly)
c.1807C>G (p.Arg603Gly)
c.1774C>G (p.Arg592Gly)
 dbSNP
3g.189894272C>TCA89713267TP63c.1813C>T (p.Arg605Trp)
c.1531C>T (p.Arg511Trp)
c.*41C>T (n.*41C>T)
c.1801C>T (p.Arg601Trp)
c.1276C>T (p.Arg426Trp)
c.1519C>T (p.Arg507Trp)
c.*51C>T (n.*51C>T)
c.1762C>T (p.Arg588Trp)
c.1810C>T (p.Arg604Trp)
c.1807C>T (p.Arg603Trp)
c.1774C>T (p.Arg592Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.189894273G>ACA2752583TP63c.1814G>A (p.Arg605Gln)
c.1532G>A (p.Arg511Gln)
c.*42G>A (n.*42G>A)
c.1802G>A (p.Arg601Gln)
c.1277G>A (p.Arg426Gln)
c.1520G>A (p.Arg507Gln)
c.*52G>A (n.*52G>A)
c.1763G>A (p.Arg588Gln)
c.1811G>A (p.Arg604Gln)
c.1808G>A (p.Arg603Gln)
c.1775G>A (p.Arg592Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894273G>CCA355751260TP63c.1814G>C (p.Arg605Pro)
c.1532G>C (p.Arg511Pro)
c.*42G>C (n.*42G>C)
c.1802G>C (p.Arg601Pro)
c.1277G>C (p.Arg426Pro)
c.1520G>C (p.Arg507Pro)
c.*52G>C (n.*52G>C)
c.1763G>C (p.Arg588Pro)
c.1811G>C (p.Arg604Pro)
c.1808G>C (p.Arg603Pro)
c.1775G>C (p.Arg592Pro)
 dbSNP
3g.189894273G=CA1428535219TP63c.1814G= (p.Arg605=)
c.1532G= (p.Arg511=)
c.*42G= (n.*42G=)
c.1802G= (p.Arg601=)
c.1277G= (p.Arg426=)
c.1520G= (p.Arg507=)
c.*52G= (n.*52G=)
c.1763G= (p.Arg588=)
c.1811G= (p.Arg604=)
c.1808G= (p.Arg603=)
c.1775G= (p.Arg592=)
3g.189894273G>TCA355751261TP63c.1814G>T (p.Arg605Leu)
c.1532G>T (p.Arg511Leu)
c.*42G>T (n.*42G>T)
c.1802G>T (p.Arg601Leu)
c.1277G>T (p.Arg426Leu)
c.1520G>T (p.Arg507Leu)
c.*52G>T (n.*52G>T)
c.1763G>T (p.Arg588Leu)
c.1811G>T (p.Arg604Leu)
c.1808G>T (p.Arg603Leu)
c.1775G>T (p.Arg592Leu)
 dbSNP
3g.189894274delCA2586973404TP63c.1815del (p.Gln606SerfsTer?)
c.1533del (p.Gln512SerfsTer?)
c.*43del (n.*43del)
c.1803del (p.Gln602SerfsTer?)
c.1278del (p.Gln427SerfsTer?)
c.1521del (p.Gln508SerfsTer?)
c.*53del (n.*53del)
c.1764del (p.Gln589SerfsTer?)
c.1812del (p.Gln605SerfsTer?)
c.1809del (p.Gln604SerfsTer?)
c.1776del (p.Gln593SerfsTer?)
3g.189894274G>ACA437637027TP63c.1815G>A (p.Arg605=)
c.1533G>A (p.Arg511=)
c.*43G>A (n.*43G>A)
c.1803G>A (p.Arg601=)
c.1278G>A (p.Arg426=)
c.1521G>A (p.Arg507=)
c.*53G>A (n.*53G>A)
c.1764G>A (p.Arg588=)
c.1812G>A (p.Arg604=)
c.1809G>A (p.Arg603=)
c.1776G>A (p.Arg592=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.189894274G>CCA437637029TP63c.1815G>C (p.Arg605=)
c.1533G>C (p.Arg511=)
c.*43G>C (n.*43G>C)
c.1803G>C (p.Arg601=)
c.1278G>C (p.Arg426=)
c.1521G>C (p.Arg507=)
c.*53G>C (n.*53G>C)
c.1764G>C (p.Arg588=)
c.1812G>C (p.Arg604=)
c.1809G>C (p.Arg603=)
c.1776G>C (p.Arg592=)
 dbSNP
3g.189894274G=CA1428535220TP63c.1815G= (p.Arg605=)
c.1533G= (p.Arg511=)
c.*43G= (n.*43G=)
c.1803G= (p.Arg601=)
c.1278G= (p.Arg426=)
c.1521G= (p.Arg507=)
c.*53G= (n.*53G=)
c.1764G= (p.Arg588=)
c.1812G= (p.Arg604=)
c.1809G= (p.Arg603=)
c.1776G= (p.Arg592=)
3g.189894274G>TCA437637028TP63c.1815G>T (p.Arg605=)
c.1533G>T (p.Arg511=)
c.*43G>T (n.*43G>T)
c.1803G>T (p.Arg601=)
c.1278G>T (p.Arg426=)
c.1521G>T (p.Arg507=)
c.*53G>T (n.*53G>T)
c.1764G>T (p.Arg588=)
c.1812G>T (p.Arg604=)
c.1809G>T (p.Arg603=)
c.1776G>T (p.Arg592=)
3g.189894275C>ACA355751262TP63c.1816C>A (p.Gln606Lys)
c.1534C>A (p.Gln512Lys)
c.*44C>A (n.*44C>A)
c.1804C>A (p.Gln602Lys)
c.1279C>A (p.Gln427Lys)
c.1522C>A (p.Gln508Lys)
c.*54C>A (n.*54C>A)
c.1765C>A (p.Gln589Lys)
c.1813C>A (p.Gln605Lys)
c.1810C>A (p.Gln604Lys)
c.1777C>A (p.Gln593Lys)
3g.189894275C>GCA355751263TP63c.1816C>G (p.Gln606Glu)
c.1534C>G (p.Gln512Glu)
c.*44C>G (n.*44C>G)
c.1804C>G (p.Gln602Glu)
c.1279C>G (p.Gln427Glu)
c.1522C>G (p.Gln508Glu)
c.*54C>G (n.*54C>G)
c.1765C>G (p.Gln589Glu)
c.1813C>G (p.Gln605Glu)
c.1810C>G (p.Gln604Glu)
c.1777C>G (p.Gln593Glu)
 dbSNP
3g.189894275C>TCA355751264TP63c.1816C>T (p.Gln606Ter)
c.1534C>T (p.Gln512Ter)
c.*44C>T (n.*44C>T)
c.1804C>T (p.Gln602Ter)
c.1279C>T (p.Gln427Ter)
c.1522C>T (p.Gln508Ter)
c.*54C>T (n.*54C>T)
c.1765C>T (p.Gln589Ter)
c.1813C>T (p.Gln605Ter)
c.1810C>T (p.Gln604Ter)
c.1777C>T (p.Gln593Ter)
 dbSNP gnomAD v4
3g.189894276A>CCA355751265TP63c.1817A>C (p.Gln606Pro)
c.1535A>C (p.Gln512Pro)
c.*45A>C (n.*45A>C)
c.1805A>C (p.Gln602Pro)
c.1280A>C (p.Gln427Pro)
c.1523A>C (p.Gln508Pro)
c.*55A>C (n.*55A>C)
c.1766A>C (p.Gln589Pro)
c.1814A>C (p.Gln605Pro)
c.1811A>C (p.Gln604Pro)
c.1778A>C (p.Gln593Pro)
3g.189894276A>GCA355751266TP63c.1817A>G (p.Gln606Arg)
c.1535A>G (p.Gln512Arg)
c.*45A>G (n.*45A>G)
c.1805A>G (p.Gln602Arg)
c.1280A>G (p.Gln427Arg)
c.1523A>G (p.Gln508Arg)
c.*55A>G (n.*55A>G)
c.1766A>G (p.Gln589Arg)
c.1814A>G (p.Gln605Arg)
c.1811A>G (p.Gln604Arg)
c.1778A>G (p.Gln593Arg)
 dbSNP
3g.189894276A>TCA355751267TP63c.1817A>T (p.Gln606Leu)
c.1535A>T (p.Gln512Leu)
c.*45A>T (n.*45A>T)
c.1805A>T (p.Gln602Leu)
c.1280A>T (p.Gln427Leu)
c.1523A>T (p.Gln508Leu)
c.*55A>T (n.*55A>T)
c.1766A>T (p.Gln589Leu)
c.1814A>T (p.Gln605Leu)
c.1811A>T (p.Gln604Leu)
c.1778A>T (p.Gln593Leu)
 dbSNP
3g.189894277G>ACA437637030TP63c.1818G>A (p.Gln606=)
c.1536G>A (p.Gln512=)
c.*46G>A (n.*46G>A)
c.1806G>A (p.Gln602=)
c.1281G>A (p.Gln427=)
c.1524G>A (p.Gln508=)
c.*56G>A (n.*56G>A)
c.1767G>A (p.Gln589=)
c.1815G>A (p.Gln605=)
c.1812G>A (p.Gln604=)
c.1779G>A (p.Gln593=)
 dbSNP gnomAD v4 COSMIC COSMIC
3g.189894277G>CCA355751268TP63c.1818G>C (p.Gln606His)
c.1536G>C (p.Gln512His)
c.*46G>C (n.*46G>C)
c.1806G>C (p.Gln602His)
c.1281G>C (p.Gln427His)
c.1524G>C (p.Gln508His)
c.*56G>C (n.*56G>C)
c.1767G>C (p.Gln589His)
c.1815G>C (p.Gln605His)
c.1812G>C (p.Gln604His)
c.1779G>C (p.Gln593His)
 dbSNP gnomAD v4
3g.189894277G=CA1428535221TP63c.1818G= (p.Gln606=)
c.1536G= (p.Gln512=)
c.*46G= (n.*46G=)
c.1806G= (p.Gln602=)
c.1281G= (p.Gln427=)
c.1524G= (p.Gln508=)
c.*56G= (n.*56G=)
c.1767G= (p.Gln589=)
c.1815G= (p.Gln605=)
c.1812G= (p.Gln604=)
c.1779G= (p.Gln593=)
3g.189894277G>TCA89713273TP63c.1818G>T (p.Gln606His)
c.1536G>T (p.Gln512His)
c.*46G>T (n.*46G>T)
c.1806G>T (p.Gln602His)
c.1281G>T (p.Gln427His)
c.1524G>T (p.Gln508His)
c.*56G>T (n.*56G>T)
c.1767G>T (p.Gln589His)
c.1815G>T (p.Gln605His)
c.1812G>T (p.Gln604His)
c.1779G>T (p.Gln593His)
 dbSNP gnomAD v2 gnomAD v4
3g.189894278C>ACA355751271TP63c.1819C>A (p.Leu607Ile)
c.1537C>A (p.Leu513Ile)
c.*47C>A (n.*47C>A)
c.1807C>A (p.Leu603Ile)
c.1282C>A (p.Leu428Ile)
c.1525C>A (p.Leu509Ile)
c.*57C>A (n.*57C>A)
c.1768C>A (p.Leu590Ile)
c.1816C>A (p.Leu606Ile)
c.1813C>A (p.Leu605Ile)
c.1780C>A (p.Leu594Ile)
 dbSNP
3g.189894278C>GCA355751270TP63c.1819C>G (p.Leu607Val)
c.1537C>G (p.Leu513Val)
c.*47C>G (n.*47C>G)
c.1807C>G (p.Leu603Val)
c.1282C>G (p.Leu428Val)
c.1525C>G (p.Leu509Val)
c.*57C>G (n.*57C>G)
c.1768C>G (p.Leu590Val)
c.1816C>G (p.Leu606Val)
c.1813C>G (p.Leu605Val)
c.1780C>G (p.Leu594Val)
 dbSNP
3g.189894278C>TCA355751269TP63c.1819C>T (p.Leu607Phe)
c.1537C>T (p.Leu513Phe)
c.*47C>T (n.*47C>T)
c.1807C>T (p.Leu603Phe)
c.1282C>T (p.Leu428Phe)
c.1525C>T (p.Leu509Phe)
c.*57C>T (n.*57C>T)
c.1768C>T (p.Leu590Phe)
c.1816C>T (p.Leu606Phe)
c.1813C>T (p.Leu605Phe)
c.1780C>T (p.Leu594Phe)
 dbSNP
3g.189894279T>ACA355751272TP63c.1820T>A (p.Leu607His)
c.1538T>A (p.Leu513His)
c.*48T>A (n.*48T>A)
c.1808T>A (p.Leu603His)
c.1283T>A (p.Leu428His)
c.1526T>A (p.Leu509His)
c.*58T>A (n.*58T>A)
c.1769T>A (p.Leu590His)
c.1817T>A (p.Leu606His)
c.1814T>A (p.Leu605His)
c.1781T>A (p.Leu594His)
3g.189894279T>CCA355751274TP63c.1820T>C (p.Leu607Pro)
c.1538T>C (p.Leu513Pro)
c.*48T>C (n.*48T>C)
c.1808T>C (p.Leu603Pro)
c.1283T>C (p.Leu428Pro)
c.1526T>C (p.Leu509Pro)
c.*58T>C (n.*58T>C)
c.1769T>C (p.Leu590Pro)
c.1817T>C (p.Leu606Pro)
c.1814T>C (p.Leu605Pro)
c.1781T>C (p.Leu594Pro)
 ClinVar dbSNP gnomAD v4
3g.189894279T>GCA355751273TP63c.1820T>G (p.Leu607Arg)
c.1538T>G (p.Leu513Arg)
c.*48T>G (n.*48T>G)
c.1808T>G (p.Leu603Arg)
c.1283T>G (p.Leu428Arg)
c.1526T>G (p.Leu509Arg)
c.*58T>G (n.*58T>G)
c.1769T>G (p.Leu590Arg)
c.1817T>G (p.Leu606Arg)
c.1814T>G (p.Leu605Arg)
c.1781T>G (p.Leu594Arg)
3g.189894279T=CA1428535222TP63c.1820T= (p.Leu607=)
c.1538T= (p.Leu513=)
c.*48T= (n.*48T=)
c.1808T= (p.Leu603=)
c.1283T= (p.Leu428=)
c.1526T= (p.Leu509=)
c.*58T= (n.*58T=)
c.1769T= (p.Leu590=)
c.1817T= (p.Leu606=)
c.1814T= (p.Leu605=)
c.1781T= (p.Leu594=)
3g.189894280C>ACA437637031TP63c.1821C>A (p.Leu607=)
c.1539C>A (p.Leu513=)
c.*49C>A (n.*49C>A)
c.1809C>A (p.Leu603=)
c.1284C>A (p.Leu428=)
c.1527C>A (p.Leu509=)
c.*59C>A (n.*59C>A)
c.1770C>A (p.Leu590=)
c.1818C>A (p.Leu606=)
c.1815C>A (p.Leu605=)
c.1782C>A (p.Leu594=)
3g.189894280C>GCA437637033TP63c.1821C>G (p.Leu607=)
c.1539C>G (p.Leu513=)
c.*49C>G (n.*49C>G)
c.1809C>G (p.Leu603=)
c.1284C>G (p.Leu428=)
c.1527C>G (p.Leu509=)
c.*59C>G (n.*59C>G)
c.1770C>G (p.Leu590=)
c.1818C>G (p.Leu606=)
c.1815C>G (p.Leu605=)
c.1782C>G (p.Leu594=)
3g.189894280C>TCA437637032TP63c.1821C>T (p.Leu607=)
c.1539C>T (p.Leu513=)
c.*49C>T (n.*49C>T)
c.1809C>T (p.Leu603=)
c.1284C>T (p.Leu428=)
c.1527C>T (p.Leu509=)
c.*59C>T (n.*59C>T)
c.1770C>T (p.Leu590=)
c.1818C>T (p.Leu606=)
c.1815C>T (p.Leu605=)
c.1782C>T (p.Leu594=)
3g.189894281C>ACA355751275TP63c.1822C>A (p.His608Asn)
c.1540C>A (p.His514Asn)
c.*50C>A (n.*50C>A)
c.1810C>A (p.His604Asn)
c.1285C>A (p.His429Asn)
c.1528C>A (p.His510Asn)
c.*60C>A (n.*60C>A)
c.1771C>A (p.His591Asn)
c.1819C>A (p.His607Asn)
c.1816C>A (p.His606Asn)
c.1783C>A (p.His595Asn)
3g.189894281C>GCA355751276TP63c.1822C>G (p.His608Asp)
c.1540C>G (p.His514Asp)
c.*50C>G (n.*50C>G)
c.1810C>G (p.His604Asp)
c.1285C>G (p.His429Asp)
c.1528C>G (p.His510Asp)
c.*60C>G (n.*60C>G)
c.1771C>G (p.His591Asp)
c.1819C>G (p.His607Asp)
c.1816C>G (p.His606Asp)
c.1783C>G (p.His595Asp)
3g.189894281C>TCA355751277TP63c.1822C>T (p.His608Tyr)
c.1540C>T (p.His514Tyr)
c.*50C>T (n.*50C>T)
c.1810C>T (p.His604Tyr)
c.1285C>T (p.His429Tyr)
c.1528C>T (p.His510Tyr)
c.*60C>T (n.*60C>T)
c.1771C>T (p.His591Tyr)
c.1819C>T (p.His607Tyr)
c.1816C>T (p.His606Tyr)
c.1783C>T (p.His595Tyr)
 dbSNP
3g.189894282A>CCA355751278TP63c.1823A>C (p.His608Pro)
c.1541A>C (p.His514Pro)
c.*51A>C (n.*51A>C)
c.1811A>C (p.His604Pro)
c.1286A>C (p.His429Pro)
c.1529A>C (p.His510Pro)
c.*61A>C (n.*61A>C)
c.1772A>C (p.His591Pro)
c.1820A>C (p.His607Pro)
c.1817A>C (p.His606Pro)
c.1784A>C (p.His595Pro)
 dbSNP
3g.189894282A>GCA355751279TP63c.1823A>G (p.His608Arg)
c.1541A>G (p.His514Arg)
c.*51A>G (n.*51A>G)
c.1811A>G (p.His604Arg)
c.1286A>G (p.His429Arg)
c.1529A>G (p.His510Arg)
c.*61A>G (n.*61A>G)
c.1772A>G (p.His591Arg)
c.1820A>G (p.His607Arg)
c.1817A>G (p.His606Arg)
c.1784A>G (p.His595Arg)
 dbSNP
3g.189894282A>TCA355751280TP63c.1823A>T (p.His608Leu)
c.1541A>T (p.His514Leu)
c.*51A>T (n.*51A>T)
c.1811A>T (p.His604Leu)
c.1286A>T (p.His429Leu)
c.1529A>T (p.His510Leu)
c.*61A>T (n.*61A>T)
c.1772A>T (p.His591Leu)
c.1820A>T (p.His607Leu)
c.1817A>T (p.His606Leu)
c.1784A>T (p.His595Leu)
 dbSNP
3g.189894283C>ACA355751281TP63c.1824C>A (p.His608Gln)
c.1542C>A (p.His514Gln)
c.*52C>A (n.*52C>A)
c.1812C>A (p.His604Gln)
c.1287C>A (p.His429Gln)
c.1530C>A (p.His510Gln)
c.*62C>A (n.*62C>A)
c.1773C>A (p.His591Gln)
c.1821C>A (p.His607Gln)
c.1818C>A (p.His606Gln)
c.1785C>A (p.His595Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189894283C=CA1428535223TP63c.1824C= (p.His608=)
c.1542C= (p.His514=)
c.*52C= (n.*52C=)
c.1812C= (p.His604=)
c.1287C= (p.His429=)
c.1530C= (p.His510=)
c.*62C= (n.*62C=)
c.1773C= (p.His591=)
c.1821C= (p.His607=)
c.1818C= (p.His606=)
c.1785C= (p.His595=)
3g.189894283C>GCA355751282TP63c.1824C>G (p.His608Gln)
c.1542C>G (p.His514Gln)
c.*52C>G (n.*52C>G)
c.1812C>G (p.His604Gln)
c.1287C>G (p.His429Gln)
c.1530C>G (p.His510Gln)
c.*62C>G (n.*62C>G)
c.1773C>G (p.His591Gln)
c.1821C>G (p.His607Gln)
c.1818C>G (p.His606Gln)
c.1785C>G (p.His595Gln)
 dbSNP
3g.189894283C>TCA2752584TP63c.1824C>T (p.His608=)
c.1542C>T (p.His514=)
c.*52C>T (n.*52C>T)
c.1812C>T (p.His604=)
c.1287C>T (p.His429=)
c.1530C>T (p.His510=)
c.*62C>T (n.*62C>T)
c.1773C>T (p.His591=)
c.1821C>T (p.His607=)
c.1818C>T (p.His606=)
c.1785C>T (p.His595=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894284G>ACA89713282TP63c.1825G>A (p.Glu609Lys)
c.1543G>A (p.Glu515Lys)
c.*53G>A (n.*53G>A)
c.1813G>A (p.Glu605Lys)
c.1288G>A (p.Glu430Lys)
c.1531G>A (p.Glu511Lys)
c.*63G>A (n.*63G>A)
c.1774G>A (p.Glu592Lys)
c.1822G>A (p.Glu608Lys)
c.1819G>A (p.Glu607Lys)
c.1786G>A (p.Glu596Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.189894284G>CCA355751283TP63c.1825G>C (p.Glu609Gln)
c.1543G>C (p.Glu515Gln)
c.*53G>C (n.*53G>C)
c.1813G>C (p.Glu605Gln)
c.1288G>C (p.Glu430Gln)
c.1531G>C (p.Glu511Gln)
c.*63G>C (n.*63G>C)
c.1774G>C (p.Glu592Gln)
c.1822G>C (p.Glu608Gln)
c.1819G>C (p.Glu607Gln)
c.1786G>C (p.Glu596Gln)
 dbSNP
3g.189894284G=CA1428535224TP63c.1825G= (p.Glu609=)
c.1543G= (p.Glu515=)
c.*53G= (n.*53G=)
c.1813G= (p.Glu605=)
c.1288G= (p.Glu430=)
c.1531G= (p.Glu511=)
c.*63G= (n.*63G=)
c.1774G= (p.Glu592=)
c.1822G= (p.Glu608=)
c.1819G= (p.Glu607=)
c.1786G= (p.Glu596=)
3g.189894284G>TCA355751284TP63c.1825G>T (p.Glu609Ter)
c.1543G>T (p.Glu515Ter)
c.*53G>T (n.*53G>T)
c.1813G>T (p.Glu605Ter)
c.1288G>T (p.Glu430Ter)
c.1531G>T (p.Glu511Ter)
c.*63G>T (n.*63G>T)
c.1774G>T (p.Glu592Ter)
c.1822G>T (p.Glu608Ter)
c.1819G>T (p.Glu607Ter)
c.1786G>T (p.Glu596Ter)
 dbSNP
3g.189894285A>CCA355751287TP63c.1826A>C (p.Glu609Ala)
c.1544A>C (p.Glu515Ala)
c.*54A>C (n.*54A>C)
c.1814A>C (p.Glu605Ala)
c.1289A>C (p.Glu430Ala)
c.1532A>C (p.Glu511Ala)
c.*64A>C (n.*64A>C)
c.1775A>C (p.Glu592Ala)
c.1823A>C (p.Glu608Ala)
c.1820A>C (p.Glu607Ala)
c.1787A>C (p.Glu596Ala)
3g.189894285A>GCA355751285TP63c.1826A>G (p.Glu609Gly)
c.1544A>G (p.Glu515Gly)
c.*54A>G (n.*54A>G)
c.1814A>G (p.Glu605Gly)
c.1289A>G (p.Glu430Gly)
c.1532A>G (p.Glu511Gly)
c.*64A>G (n.*64A>G)
c.1775A>G (p.Glu592Gly)
c.1823A>G (p.Glu608Gly)
c.1820A>G (p.Glu607Gly)
c.1787A>G (p.Glu596Gly)
3g.189894285A>TCA355751286TP63c.1826A>T (p.Glu609Val)
c.1544A>T (p.Glu515Val)
c.*54A>T (n.*54A>T)
c.1814A>T (p.Glu605Val)
c.1289A>T (p.Glu430Val)
c.1532A>T (p.Glu511Val)
c.*64A>T (n.*64A>T)
c.1775A>T (p.Glu592Val)
c.1823A>T (p.Glu608Val)
c.1820A>T (p.Glu607Val)
c.1787A>T (p.Glu596Val)
 dbSNP
3g.189894286delCA2580070516TP63c.1827del (p.Glu609AspfsTer?)
c.1545del (p.Glu515AspfsTer?)
c.*55del (n.*55del)
c.1815del (p.Glu605AspfsTer?)
c.1290del (p.Glu430AspfsTer?)
c.1533del (p.Glu511AspfsTer?)
c.*65del (n.*65del)
c.1776del (p.Glu592AspfsTer?)
c.1824del (p.Glu608AspfsTer?)
c.1821del (p.Glu607AspfsTer?)
c.1788del (p.Glu596AspfsTer?)
 ClinVar dbSNP
3g.189894286A=CA1428535225TP63c.1827A= (p.Glu609=)
c.1545A= (p.Glu515=)
c.*55A= (n.*55A=)
c.1815A= (p.Glu605=)
c.1290A= (p.Glu430=)
c.1533A= (p.Glu511=)
c.*65A= (n.*65A=)
c.1776A= (p.Glu592=)
c.1824A= (p.Glu608=)
c.1821A= (p.Glu607=)
c.1788A= (p.Glu596=)
3g.189894286A>CCA355751288TP63c.1827A>C (p.Glu609Asp)
c.1545A>C (p.Glu515Asp)
c.*55A>C (n.*55A>C)
c.1815A>C (p.Glu605Asp)
c.1290A>C (p.Glu430Asp)
c.1533A>C (p.Glu511Asp)
c.*65A>C (n.*65A>C)
c.1776A>C (p.Glu592Asp)
c.1824A>C (p.Glu608Asp)
c.1821A>C (p.Glu607Asp)
c.1788A>C (p.Glu596Asp)
3g.189894286A>GCA2752585TP63c.1827A>G (p.Glu609=)
c.1545A>G (p.Glu515=)
c.*55A>G (n.*55A>G)
c.1815A>G (p.Glu605=)
c.1290A>G (p.Glu430=)
c.1533A>G (p.Glu511=)
c.*65A>G (n.*65A>G)
c.1776A>G (p.Glu592=)
c.1824A>G (p.Glu608=)
c.1821A>G (p.Glu607=)
c.1788A>G (p.Glu596=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894286A>TCA355751289TP63c.1827A>T (p.Glu609Asp)
c.1545A>T (p.Glu515Asp)
c.*55A>T (n.*55A>T)
c.1815A>T (p.Glu605Asp)
c.1290A>T (p.Glu430Asp)
c.1533A>T (p.Glu511Asp)
c.*65A>T (n.*65A>T)
c.1776A>T (p.Glu592Asp)
c.1824A>T (p.Glu608Asp)
c.1821A>T (p.Glu607Asp)
c.1788A>T (p.Glu596Asp)
3g.189894287T>ACA355751290TP63c.1828T>A (p.Phe610Ile)
c.1546T>A (p.Phe516Ile)
c.*56T>A (n.*56T>A)
c.1816T>A (p.Phe606Ile)
c.1291T>A (p.Phe431Ile)
c.1534T>A (p.Phe512Ile)
c.*66T>A (n.*66T>A)
c.1777T>A (p.Phe593Ile)
c.1825T>A (p.Phe609Ile)
c.1822T>A (p.Phe608Ile)
c.1789T>A (p.Phe597Ile)
3g.189894287T>CCA355751291TP63c.1828T>C (p.Phe610Leu)
c.1546T>C (p.Phe516Leu)
c.*56T>C (n.*56T>C)
c.1816T>C (p.Phe606Leu)
c.1291T>C (p.Phe431Leu)
c.1534T>C (p.Phe512Leu)
c.*66T>C (n.*66T>C)
c.1777T>C (p.Phe593Leu)
c.1825T>C (p.Phe609Leu)
c.1822T>C (p.Phe608Leu)
c.1789T>C (p.Phe597Leu)
3g.189894287T>GCA355751292TP63c.1828T>G (p.Phe610Val)
c.1546T>G (p.Phe516Val)
c.*56T>G (n.*56T>G)
c.1816T>G (p.Phe606Val)
c.1291T>G (p.Phe431Val)
c.1534T>G (p.Phe512Val)
c.*66T>G (n.*66T>G)
c.1777T>G (p.Phe593Val)
c.1825T>G (p.Phe609Val)
c.1822T>G (p.Phe608Val)
c.1789T>G (p.Phe597Val)
3g.189894292_189894302dupCA2580070517TP63c.1833_1843dup (p.His615ProfsTer?)
c.1551_1561dup (p.His521ProfsTer?)
c.*61_*71dup (n.*61_*71dup)
c.1821_1831dup (p.His611ProfsTer?)
c.1296_1306dup (p.His436ProfsTer?)
c.1539_1549dup (p.His517ProfsTer?)
c.*71_*81dup (n.*71_*81dup)
c.1782_1792dup (p.His598ProfsTer?)
c.1830_1840dup (p.His614ProfsTer?)
c.1827_1837dup (p.His613ProfsTer?)
c.1794_1804dup (p.His602ProfsTer?)
 ClinVar
3g.189894288T>ACA355751293TP63c.1829T>A (p.Phe610Tyr)
c.1547T>A (p.Phe516Tyr)
c.*57T>A (n.*57T>A)
c.1817T>A (p.Phe606Tyr)
c.1292T>A (p.Phe431Tyr)
c.1535T>A (p.Phe512Tyr)
c.*67T>A (n.*67T>A)
c.1778T>A (p.Phe593Tyr)
c.1826T>A (p.Phe609Tyr)
c.1823T>A (p.Phe608Tyr)
c.1790T>A (p.Phe597Tyr)
 dbSNP
3g.189894288T>CCA355751294TP63c.1829T>C (p.Phe610Ser)
c.1547T>C (p.Phe516Ser)
c.*57T>C (n.*57T>C)
c.1817T>C (p.Phe606Ser)
c.1292T>C (p.Phe431Ser)
c.1535T>C (p.Phe512Ser)
c.*67T>C (n.*67T>C)
c.1778T>C (p.Phe593Ser)
c.1826T>C (p.Phe609Ser)
c.1823T>C (p.Phe608Ser)
c.1790T>C (p.Phe597Ser)
 dbSNP
3g.189894288T>GCA2752586TP63c.1829T>G (p.Phe610Cys)
c.1547T>G (p.Phe516Cys)
c.*57T>G (n.*57T>G)
c.1817T>G (p.Phe606Cys)
c.1292T>G (p.Phe431Cys)
c.1535T>G (p.Phe512Cys)
c.*67T>G (n.*67T>G)
c.1778T>G (p.Phe593Cys)
c.1826T>G (p.Phe609Cys)
c.1823T>G (p.Phe608Cys)
c.1790T>G (p.Phe597Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189894288T=CA1428535226TP63c.1829T= (p.Phe610=)
c.1547T= (p.Phe516=)
c.*57T= (n.*57T=)
c.1817T= (p.Phe606=)
c.1292T= (p.Phe431=)
c.1535T= (p.Phe512=)
c.*67T= (n.*67T=)
c.1778T= (p.Phe593=)
c.1826T= (p.Phe609=)
c.1823T= (p.Phe608=)
c.1790T= (p.Phe597=)
3g.189894288_189894291delinsTCTCCA1428535227TP63c.1829_1832delinsTCTC (p.Phe610=)
c.1547_1550delinsTCTC (p.Phe516=)
c.*57_*60delinsTCTC (n.*57_*60delinsTCTC)
c.1817_1820delinsTCTC (p.Phe606=)
c.1292_1295delinsTCTC (p.Phe431=)
c.1535_1538delinsTCTC (p.Phe512=)
c.*67_*70delinsTCTC (n.*67_*70delinsTCTC)
c.1778_1781delinsTCTC (p.Phe593=)
c.1826_1829delinsTCTC (p.Phe609=)
c.1823_1826delinsTCTC (p.Phe608=)
c.1790_1793delinsTCTC (p.Phe597=)
3g.189894289C>ACA89713288TP63c.1830C>A (p.Phe610Leu)
c.1548C>A (p.Phe516Leu)
c.*58C>A (n.*58C>A)
c.1818C>A (p.Phe606Leu)
c.1293C>A (p.Phe431Leu)
c.1536C>A (p.Phe512Leu)
c.*68C>A (n.*68C>A)
c.1779C>A (p.Phe593Leu)
c.1827C>A (p.Phe609Leu)
c.1824C>A (p.Phe608Leu)
c.1791C>A (p.Phe597Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.189894289C=CA1428535228TP63c.1830C= (p.Phe610=)
c.1548C= (p.Phe516=)
c.*58C= (n.*58C=)
c.1818C= (p.Phe606=)
c.1293C= (p.Phe431=)
c.1536C= (p.Phe512=)
c.*68C= (n.*68C=)
c.1779C= (p.Phe593=)
c.1827C= (p.Phe609=)
c.1824C= (p.Phe608=)
c.1791C= (p.Phe597=)
3g.189894289C>GCA355751295TP63c.1830C>G (p.Phe610Leu)
c.1548C>G (p.Phe516Leu)
c.*58C>G (n.*58C>G)
c.1818C>G (p.Phe606Leu)
c.1293C>G (p.Phe431Leu)
c.1536C>G (p.Phe512Leu)
c.*68C>G (n.*68C>G)
c.1779C>G (p.Phe593Leu)
c.1827C>G (p.Phe609Leu)
c.1824C>G (p.Phe608Leu)
c.1791C>G (p.Phe597Leu)
 dbSNP
3g.189894289C>TCA437637044TP63c.1830C>T (p.Phe610=)
c.1548C>T (p.Phe516=)
c.*58C>T (n.*58C>T)
c.1818C>T (p.Phe606=)
c.1293C>T (p.Phe431=)
c.1536C>T (p.Phe512=)
c.*68C>T (n.*68C>T)
c.1779C>T (p.Phe593=)
c.1827C>T (p.Phe609=)
c.1824C>T (p.Phe608=)
c.1791C>T (p.Phe597=)
 dbSNP
3g.189894293_189894295delCA548798318TP63c.1834_1836del (p.Ser612del)
c.1552_1554del (p.Ser518del)
c.*62_*64del (n.*62_*64del)
c.1822_1824del (p.Ser608del)
c.1297_1299del (p.Ser433del)
c.1540_1542del (p.Ser514del)
c.*72_*74del (n.*72_*74del)
c.1783_1785del (p.Ser595del)
c.1831_1833del (p.Ser611del)
c.1828_1830del (p.Ser610del)
c.1795_1797del (p.Ser599del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.189894290T>ACA355751298TP63c.1831T>A (p.Ser611Thr)
c.1549T>A (p.Ser517Thr)
c.*59T>A (n.*59T>A)
c.1819T>A (p.Ser607Thr)
c.1294T>A (p.Ser432Thr)
c.1537T>A (p.Ser513Thr)
c.*69T>A (n.*69T>A)
c.1780T>A (p.Ser594Thr)
c.1828T>A (p.Ser610Thr)
c.1825T>A (p.Ser609Thr)
c.1792T>A (p.Ser598Thr)
 dbSNP
3g.189894290T>CCA355751297TP63c.1831T>C (p.Ser611Pro)
c.1549T>C (p.Ser517Pro)
c.*59T>C (n.*59T>C)
c.1819T>C (p.Ser607Pro)
c.1294T>C (p.Ser432Pro)
c.1537T>C (p.Ser513Pro)
c.*69T>C (n.*69T>C)
c.1780T>C (p.Ser594Pro)
c.1828T>C (p.Ser610Pro)
c.1825T>C (p.Ser609Pro)
c.1792T>C (p.Ser598Pro)
 dbSNP
3g.189894290T>GCA355751296TP63c.1831T>G (p.Ser611Ala)
c.1549T>G (p.Ser517Ala)
c.*59T>G (n.*59T>G)
c.1819T>G (p.Ser607Ala)
c.1294T>G (p.Ser432Ala)
c.1537T>G (p.Ser513Ala)
c.*69T>G (n.*69T>G)
c.1780T>G (p.Ser594Ala)
c.1828T>G (p.Ser610Ala)
c.1825T>G (p.Ser609Ala)
c.1792T>G (p.Ser598Ala)
3g.189894291C>ACA355751299TP63c.1832C>A (p.Ser611Tyr)
c.1550C>A (p.Ser517Tyr)
c.*60C>A (n.*60C>A)
c.1820C>A (p.Ser607Tyr)
c.1295C>A (p.Ser432Tyr)
c.1538C>A (p.Ser513Tyr)
c.*70C>A (n.*70C>A)
c.1781C>A (p.Ser594Tyr)
c.1829C>A (p.Ser610Tyr)
c.1826C>A (p.Ser609Tyr)
c.1793C>A (p.Ser598Tyr)
 dbSNP
3g.189894291C>GCA355751300TP63c.1832C>G (p.Ser611Cys)
c.1550C>G (p.Ser517Cys)
c.*60C>G (n.*60C>G)
c.1820C>G (p.Ser607Cys)
c.1295C>G (p.Ser432Cys)
c.1538C>G (p.Ser513Cys)
c.*70C>G (n.*70C>G)
c.1781C>G (p.Ser594Cys)
c.1829C>G (p.Ser610Cys)
c.1826C>G (p.Ser609Cys)
c.1793C>G (p.Ser598Cys)
 dbSNP
3g.189894291C>TCA355751301TP63c.1832C>T (p.Ser611Phe)
c.1550C>T (p.Ser517Phe)
c.*60C>T (n.*60C>T)
c.1820C>T (p.Ser607Phe)
c.1295C>T (p.Ser432Phe)
c.1538C>T (p.Ser513Phe)
c.*70C>T (n.*70C>T)
c.1781C>T (p.Ser594Phe)
c.1829C>T (p.Ser610Phe)
c.1826C>T (p.Ser609Phe)
c.1793C>T (p.Ser598Phe)
 dbSNP
3g.189894292C>ACA437637049TP63c.1833C>A (p.Ser611=)
c.1551C>A (p.Ser517=)
c.*61C>A (n.*61C>A)
c.1821C>A (p.Ser607=)
c.1296C>A (p.Ser432=)
c.1539C>A (p.Ser513=)
c.*71C>A (n.*71C>A)
c.1782C>A (p.Ser594=)
c.1830C>A (p.Ser610=)
c.1827C>A (p.Ser609=)
c.1794C>A (p.Ser598=)
 dbSNP
3g.189894292C>GCA437637050TP63c.1833C>G (p.Ser611=)
c.1551C>G (p.Ser517=)
c.*61C>G (n.*61C>G)
c.1821C>G (p.Ser607=)
c.1296C>G (p.Ser432=)
c.1539C>G (p.Ser513=)
c.*71C>G (n.*71C>G)
c.1782C>G (p.Ser594=)
c.1830C>G (p.Ser610=)
c.1827C>G (p.Ser609=)
c.1794C>G (p.Ser598=)
3g.189894292C>TCA437637051TP63c.1833C>T (p.Ser611=)
c.1551C>T (p.Ser517=)
c.*61C>T (n.*61C>T)
c.1821C>T (p.Ser607=)
c.1296C>T (p.Ser432=)
c.1539C>T (p.Ser513=)
c.*71C>T (n.*71C>T)
c.1782C>T (p.Ser594=)
c.1830C>T (p.Ser610=)
c.1827C>T (p.Ser609=)
c.1794C>T (p.Ser598=)
 dbSNP gnomAD v4
3g.189894293T>ACA355751302TP63c.1834T>A (p.Ser612Thr)
c.1552T>A (p.Ser518Thr)
c.*62T>A (n.*62T>A)
c.1822T>A (p.Ser608Thr)
c.1297T>A (p.Ser433Thr)
c.1540T>A (p.Ser514Thr)
c.*72T>A (n.*72T>A)
c.1783T>A (p.Ser595Thr)
c.1831T>A (p.Ser611Thr)
c.1828T>A (p.Ser610Thr)
c.1795T>A (p.Ser599Thr)
3g.189894293T>CCA355751303TP63c.1834T>C (p.Ser612Pro)
c.1552T>C (p.Ser518Pro)
c.*62T>C (n.*62T>C)
c.1822T>C (p.Ser608Pro)
c.1297T>C (p.Ser433Pro)
c.1540T>C (p.Ser514Pro)
c.*72T>C (n.*72T>C)
c.1783T>C (p.Ser595Pro)
c.1831T>C (p.Ser611Pro)
c.1828T>C (p.Ser610Pro)
c.1795T>C (p.Ser599Pro)
3g.189894293T>GCA355751304TP63c.1834T>G (p.Ser612Ala)
c.1552T>G (p.Ser518Ala)
c.*62T>G (n.*62T>G)
c.1822T>G (p.Ser608Ala)
c.1297T>G (p.Ser433Ala)
c.1540T>G (p.Ser514Ala)
c.*72T>G (n.*72T>G)
c.1783T>G (p.Ser595Ala)
c.1831T>G (p.Ser611Ala)
c.1828T>G (p.Ser610Ala)
c.1795T>G (p.Ser599Ala)
 ClinVar dbSNP
3g.189894293T=CA1428535229TP63c.1834T= (p.Ser612=)
c.1552T= (p.Ser518=)
c.*62T= (n.*62T=)
c.1822T= (p.Ser608=)
c.1297T= (p.Ser433=)
c.1540T= (p.Ser514=)
c.*72T= (n.*72T=)
c.1783T= (p.Ser595=)
c.1831T= (p.Ser611=)
c.1828T= (p.Ser610=)
c.1795T= (p.Ser599=)
3g.189894294C>ACA355751305TP63c.1835C>A (p.Ser612Tyr)
c.1553C>A (p.Ser518Tyr)
c.*63C>A (n.*63C>A)
c.1823C>A (p.Ser608Tyr)
c.1298C>A (p.Ser433Tyr)
c.1541C>A (p.Ser514Tyr)
c.*73C>A (n.*73C>A)
c.1784C>A (p.Ser595Tyr)
c.1832C>A (p.Ser611Tyr)
c.1829C>A (p.Ser610Tyr)
c.1796C>A (p.Ser599Tyr)
 dbSNP gnomAD v4
3g.189894294C>GCA355751306TP63c.1835C>G (p.Ser612Cys)
c.1553C>G (p.Ser518Cys)
c.*63C>G (n.*63C>G)
c.1823C>G (p.Ser608Cys)
c.1298C>G (p.Ser433Cys)
c.1541C>G (p.Ser514Cys)
c.*73C>G (n.*73C>G)
c.1784C>G (p.Ser595Cys)
c.1832C>G (p.Ser611Cys)
c.1829C>G (p.Ser610Cys)
c.1796C>G (p.Ser599Cys)
 dbSNP
3g.189894294C>TCA355751307TP63c.1835C>T (p.Ser612Phe)
c.1553C>T (p.Ser518Phe)
c.*63C>T (n.*63C>T)
c.1823C>T (p.Ser608Phe)
c.1298C>T (p.Ser433Phe)
c.1541C>T (p.Ser514Phe)
c.*73C>T (n.*73C>T)
c.1784C>T (p.Ser595Phe)
c.1832C>T (p.Ser611Phe)
c.1829C>T (p.Ser610Phe)
c.1796C>T (p.Ser599Phe)
 dbSNP gnomAD v4
3g.189894297delCA2586973405TP63c.1838del (p.Pro613LeufsTer?)
c.1556del (p.Pro519LeufsTer?)
c.*66del (n.*66del)
c.1826del (p.Pro609LeufsTer?)
c.1301del (p.Pro434LeufsTer?)
c.1544del (p.Pro515LeufsTer?)
c.*76del (n.*76del)
c.1787del (p.Pro596LeufsTer?)
c.1835del (p.Pro612LeufsTer?)
c.1832del (p.Pro611LeufsTer?)
c.1799del (p.Pro600LeufsTer?)
3g.189894294_189894299delinsCCCCTTCA1428535230TP63c.1835_1840delinsCCCCTT (p.Ser612=)
c.1553_1558delinsCCCCTT (p.Ser518=)
c.*63_*68delinsCCCCTT (n.*63_*68delinsCCCCTT)
c.1823_1828delinsCCCCTT (p.Ser608=)
c.1298_1303delinsCCCCTT (p.Ser433=)
c.1541_1546delinsCCCCTT (p.Ser514=)
c.*73_*78delinsCCCCTT (n.*73_*78delinsCCCCTT)
c.1784_1789delinsCCCCTT (p.Ser595=)
c.1832_1837delinsCCCCTT (p.Ser611=)
c.1829_1834delinsCCCCTT (p.Ser610=)
c.1796_1801delinsCCCCTT (p.Ser599=)
3g.189894295C>ACA437637056TP63c.1836C>A (p.Ser612=)
c.1554C>A (p.Ser518=)
c.*64C>A (n.*64C>A)
c.1824C>A (p.Ser608=)
c.1299C>A (p.Ser433=)
c.1542C>A (p.Ser514=)
c.*74C>A (n.*74C>A)
c.1785C>A (p.Ser595=)
c.1833C>A (p.Ser611=)
c.1830C>A (p.Ser610=)
c.1797C>A (p.Ser599=)
 dbSNP
3g.189894295C>GCA437637055TP63c.1836C>G (p.Ser612=)
c.1554C>G (p.Ser518=)
c.*64C>G (n.*64C>G)
c.1824C>G (p.Ser608=)
c.1299C>G (p.Ser433=)
c.1542C>G (p.Ser514=)
c.*74C>G (n.*74C>G)
c.1785C>G (p.Ser595=)
c.1833C>G (p.Ser611=)
c.1830C>G (p.Ser610=)
c.1797C>G (p.Ser599=)
 dbSNP gnomAD v4
3g.189894295C>TCA437637058TP63c.1836C>T (p.Ser612=)
c.1554C>T (p.Ser518=)
c.*64C>T (n.*64C>T)
c.1824C>T (p.Ser608=)
c.1299C>T (p.Ser433=)
c.1542C>T (p.Ser514=)
c.*74C>T (n.*74C>T)
c.1785C>T (p.Ser595=)
c.1833C>T (p.Ser611=)
c.1830C>T (p.Ser610=)
c.1797C>T (p.Ser599=)
 dbSNP
3g.189894296_189894300delCA201154TP63c.1837_1841del (p.Pro613SerfsTer18)
c.1555_1559del (p.Pro519SerfsTer18)
c.*65_*69del (n.*65_*69del)
c.1825_1829del (p.Pro609SerfsTer18)
c.1300_1304del (p.Pro434SerfsTer18)
c.1543_1547del (p.Pro515SerfsTer18)
c.*75_*79del (n.*75_*79del)
c.1786_1790del (p.Pro596SerfsTer18)
c.1834_1838del (p.Pro612SerfsTer18)
c.1831_1835del (p.Pro611SerfsTer18)
c.1798_1802del (p.Pro600SerfsTer18)
 ClinVar dbSNP
3g.189894296C>ACA355751308TP63c.1837C>A (p.Pro613Thr)
c.1555C>A (p.Pro519Thr)
c.*65C>A (n.*65C>A)
c.1825C>A (p.Pro609Thr)
c.1300C>A (p.Pro434Thr)
c.1543C>A (p.Pro515Thr)
c.*75C>A (n.*75C>A)
c.1786C>A (p.Pro596Thr)
c.1834C>A (p.Pro612Thr)
c.1831C>A (p.Pro611Thr)
c.1798C>A (p.Pro600Thr)
 dbSNP
3g.189894296C=CA1428535231TP63c.1837C= (p.Pro613=)
c.1555C= (p.Pro519=)
c.*65C= (n.*65C=)
c.1825C= (p.Pro609=)
c.1300C= (p.Pro434=)
c.1543C= (p.Pro515=)
c.*75C= (n.*75C=)
c.1786C= (p.Pro596=)
c.1834C= (p.Pro612=)
c.1831C= (p.Pro611=)
c.1798C= (p.Pro600=)
3g.189894296C>GCA355751309TP63c.1837C>G (p.Pro613Ala)
c.1555C>G (p.Pro519Ala)
c.*65C>G (n.*65C>G)
c.1825C>G (p.Pro609Ala)
c.1300C>G (p.Pro434Ala)
c.1543C>G (p.Pro515Ala)
c.*75C>G (n.*75C>G)
c.1786C>G (p.Pro596Ala)
c.1834C>G (p.Pro612Ala)
c.1831C>G (p.Pro611Ala)
c.1798C>G (p.Pro600Ala)
 dbSNP
3g.189894296C>TCA89713289TP63c.1837C>T (p.Pro613Ser)
c.1555C>T (p.Pro519Ser)
c.*65C>T (n.*65C>T)
c.1825C>T (p.Pro609Ser)
c.1300C>T (p.Pro434Ser)
c.1543C>T (p.Pro515Ser)
c.*75C>T (n.*75C>T)
c.1786C>T (p.Pro596Ser)
c.1834C>T (p.Pro612Ser)
c.1831C>T (p.Pro611Ser)
c.1798C>T (p.Pro600Ser)
 dbSNP gnomAD v4
3g.189894297C>ACA355751312TP63c.1838C>A (p.Pro613His)
c.1556C>A (p.Pro519His)
c.*66C>A (n.*66C>A)
c.1826C>A (p.Pro609His)
c.1301C>A (p.Pro434His)
c.1544C>A (p.Pro515His)
c.*76C>A (n.*76C>A)
c.1787C>A (p.Pro596His)
c.1835C>A (p.Pro612His)
c.1832C>A (p.Pro611His)
c.1799C>A (p.Pro600His)
3g.189894297C=CA1428535232TP63c.1838C= (p.Pro613=)
c.1556C= (p.Pro519=)
c.*66C= (n.*66C=)
c.1826C= (p.Pro609=)
c.1301C= (p.Pro434=)
c.1544C= (p.Pro515=)
c.*76C= (n.*76C=)
c.1787C= (p.Pro596=)
c.1835C= (p.Pro612=)
c.1832C= (p.Pro611=)
c.1799C= (p.Pro600=)
3g.189894297C>GCA355751310TP63c.1838C>G (p.Pro613Arg)
c.1556C>G (p.Pro519Arg)
c.*66C>G (n.*66C>G)
c.1826C>G (p.Pro609Arg)
c.1301C>G (p.Pro434Arg)
c.1544C>G (p.Pro515Arg)
c.*76C>G (n.*76C>G)
c.1787C>G (p.Pro596Arg)
c.1835C>G (p.Pro612Arg)
c.1832C>G (p.Pro611Arg)
c.1799C>G (p.Pro600Arg)
3g.189894297C>TCA355751311TP63c.1838C>T (p.Pro613Leu)
c.1556C>T (p.Pro519Leu)
c.*66C>T (n.*66C>T)
c.1826C>T (p.Pro609Leu)
c.1301C>T (p.Pro434Leu)
c.1544C>T (p.Pro515Leu)
c.*76C>T (n.*76C>T)
c.1787C>T (p.Pro596Leu)
c.1835C>T (p.Pro612Leu)
c.1832C>T (p.Pro611Leu)
c.1799C>T (p.Pro600Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.189894298T>ACA437637064TP63c.1839T>A (p.Pro613=)
c.1557T>A (p.Pro519=)
c.*67T>A (n.*67T>A)
c.1827T>A (p.Pro609=)
c.1302T>A (p.Pro434=)
c.1545T>A (p.Pro515=)
c.*77T>A (n.*77T>A)
c.1788T>A (p.Pro596=)
c.1836T>A (p.Pro612=)
c.1833T>A (p.Pro611=)
c.1800T>A (p.Pro600=)
3g.189894298T>CCA437637065TP63c.1839T>C (p.Pro613=)
c.1557T>C (p.Pro519=)
c.*67T>C (n.*67T>C)
c.1827T>C (p.Pro609=)
c.1302T>C (p.Pro434=)
c.1545T>C (p.Pro515=)
c.*77T>C (n.*77T>C)
c.1788T>C (p.Pro596=)
c.1836T>C (p.Pro612=)
c.1833T>C (p.Pro611=)
c.1800T>C (p.Pro600=)
 dbSNP
3g.189894298T>GCA437637066TP63c.1839T>G (p.Pro613=)
c.1557T>G (p.Pro519=)
c.*67T>G (n.*67T>G)
c.1827T>G (p.Pro609=)
c.1302T>G (p.Pro434=)
c.1545T>G (p.Pro515=)
c.*77T>G (n.*77T>G)
c.1788T>G (p.Pro596=)
c.1836T>G (p.Pro612=)
c.1833T>G (p.Pro611=)
c.1800T>G (p.Pro600=)
3g.189894299T>ACA355751313TP63c.1840T>A (p.Ser614Thr)
c.1558T>A (p.Ser520Thr)
c.*68T>A (n.*68T>A)
c.1828T>A (p.Ser610Thr)
c.1303T>A (p.Ser435Thr)
c.1546T>A (p.Ser516Thr)
c.*78T>A (n.*78T>A)
c.1789T>A (p.Ser597Thr)
c.1837T>A (p.Ser613Thr)
c.1834T>A (p.Ser612Thr)
c.1801T>A (p.Ser601Thr)
3g.189894299T>CCA355751314TP63c.1840T>C (p.Ser614Pro)
c.1558T>C (p.Ser520Pro)
c.*68T>C (n.*68T>C)
c.1828T>C (p.Ser610Pro)
c.1303T>C (p.Ser435Pro)
c.1546T>C (p.Ser516Pro)
c.*78T>C (n.*78T>C)
c.1789T>C (p.Ser597Pro)
c.1837T>C (p.Ser613Pro)
c.1834T>C (p.Ser612Pro)
c.1801T>C (p.Ser601Pro)
 dbSNP
3g.189894299T>GCA355751315TP63c.1840T>G (p.Ser614Ala)
c.1558T>G (p.Ser520Ala)
c.*68T>G (n.*68T>G)
c.1828T>G (p.Ser610Ala)
c.1303T>G (p.Ser435Ala)
c.1546T>G (p.Ser516Ala)
c.*78T>G (n.*78T>G)
c.1789T>G (p.Ser597Ala)
c.1837T>G (p.Ser613Ala)
c.1834T>G (p.Ser612Ala)
c.1801T>G (p.Ser601Ala)
3g.189894300C>ACA355751316TP63c.1841C>A (p.Ser614Tyr)
c.1559C>A (p.Ser520Tyr)
c.*69C>A (n.*69C>A)
c.1829C>A (p.Ser610Tyr)
c.1304C>A (p.Ser435Tyr)
c.1547C>A (p.Ser516Tyr)
c.*79C>A (n.*79C>A)
c.1790C>A (p.Ser597Tyr)
c.1838C>A (p.Ser613Tyr)
c.1835C>A (p.Ser612Tyr)
c.1802C>A (p.Ser601Tyr)
 dbSNP
3g.189894300C>GCA355751317TP63c.1841C>G (p.Ser614Cys)
c.1559C>G (p.Ser520Cys)
c.*69C>G (n.*69C>G)
c.1829C>G (p.Ser610Cys)
c.1304C>G (p.Ser435Cys)
c.1547C>G (p.Ser516Cys)
c.*79C>G (n.*79C>G)
c.1790C>G (p.Ser597Cys)
c.1838C>G (p.Ser613Cys)
c.1835C>G (p.Ser612Cys)
c.1802C>G (p.Ser601Cys)
 dbSNP
3g.189894300C>TCA355751318TP63c.1841C>T (p.Ser614Phe)
c.1559C>T (p.Ser520Phe)
c.*69C>T (n.*69C>T)
c.1829C>T (p.Ser610Phe)
c.1304C>T (p.Ser435Phe)
c.1547C>T (p.Ser516Phe)
c.*79C>T (n.*79C>T)
c.1790C>T (p.Ser597Phe)
c.1838C>T (p.Ser613Phe)
c.1835C>T (p.Ser612Phe)
c.1802C>T (p.Ser601Phe)
 dbSNP
3g.189894301T>ACA437637070TP63c.1842T>A (p.Ser614=)
c.1560T>A (p.Ser520=)
c.*70T>A (n.*70T>A)
c.1830T>A (p.Ser610=)
c.1305T>A (p.Ser435=)
c.1548T>A (p.Ser516=)
c.*80T>A (n.*80T>A)
c.1791T>A (p.Ser597=)
c.1839T>A (p.Ser613=)
c.1836T>A (p.Ser612=)
c.1803T>A (p.Ser601=)
3g.189894301T>CCA437637072TP63c.1842T>C (p.Ser614=)
c.1560T>C (p.Ser520=)
c.*70T>C (n.*70T>C)
c.1830T>C (p.Ser610=)
c.1305T>C (p.Ser435=)
c.1548T>C (p.Ser516=)
c.*80T>C (n.*80T>C)
c.1791T>C (p.Ser597=)
c.1839T>C (p.Ser613=)
c.1836T>C (p.Ser612=)
c.1803T>C (p.Ser601=)
 dbSNP
3g.189894301T>GCA437637071TP63c.1842T>G (p.Ser614=)
c.1560T>G (p.Ser520=)
c.*70T>G (n.*70T>G)
c.1830T>G (p.Ser610=)
c.1305T>G (p.Ser435=)
c.1548T>G (p.Ser516=)
c.*80T>G (n.*80T>G)
c.1791T>G (p.Ser597=)
c.1839T>G (p.Ser613=)
c.1836T>G (p.Ser612=)
c.1803T>G (p.Ser601=)
3g.189894302C>ACA355751319TP63c.1843C>A (p.His615Asn)
c.1561C>A (p.His521Asn)
c.*71C>A (n.*71C>A)
c.1831C>A (p.His611Asn)
c.1306C>A (p.His436Asn)
c.1549C>A (p.His517Asn)
c.*81C>A (n.*81C>A)
c.1792C>A (p.His598Asn)
c.1840C>A (p.His614Asn)
c.1837C>A (p.His613Asn)
c.1804C>A (p.His602Asn)
 dbSNP
3g.189894302C>GCA355751320TP63c.1843C>G (p.His615Asp)
c.1561C>G (p.His521Asp)
c.*71C>G (n.*71C>G)
c.1831C>G (p.His611Asp)
c.1306C>G (p.His436Asp)
c.1549C>G (p.His517Asp)
c.*81C>G (n.*81C>G)
c.1792C>G (p.His598Asp)
c.1840C>G (p.His614Asp)
c.1837C>G (p.His613Asp)
c.1804C>G (p.His602Asp)
3g.189894302C>TCA355751321TP63c.1843C>T (p.His615Tyr)
c.1561C>T (p.His521Tyr)
c.*71C>T (n.*71C>T)
c.1831C>T (p.His611Tyr)
c.1306C>T (p.His436Tyr)
c.1549C>T (p.His517Tyr)
c.*81C>T (n.*81C>T)
c.1792C>T (p.His598Tyr)
c.1840C>T (p.His614Tyr)
c.1837C>T (p.His613Tyr)
c.1804C>T (p.His602Tyr)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
3g.189894303A=CA1428535233TP63c.1844A= (p.His615=)
c.1562A= (p.His521=)
c.*72A= (n.*72A=)
c.1832A= (p.His611=)
c.1307A= (p.His436=)
c.1550A= (p.His517=)
c.*82A= (n.*82A=)
c.1793A= (p.His598=)
c.1841A= (p.His614=)
c.1838A= (p.His613=)
c.1805A= (p.His602=)
3g.189894303A>CCA89713290TP63c.1844A>C (p.His615Pro)
c.1562A>C (p.His521Pro)
c.*72A>C (n.*72A>C)
c.1832A>C (p.His611Pro)
c.1307A>C (p.His436Pro)
c.1550A>C (p.His517Pro)
c.*82A>C (n.*82A>C)
c.1793A>C (p.His598Pro)
c.1841A>C (p.His614Pro)
c.1838A>C (p.His613Pro)
c.1805A>C (p.His602Pro)
 dbSNP
3g.189894303A>GCA355751322TP63c.1844A>G (p.His615Arg)
c.1562A>G (p.His521Arg)
c.*72A>G (n.*72A>G)
c.1832A>G (p.His611Arg)
c.1307A>G (p.His436Arg)
c.1550A>G (p.His517Arg)
c.*82A>G (n.*82A>G)
c.1793A>G (p.His598Arg)
c.1841A>G (p.His614Arg)
c.1838A>G (p.His613Arg)
c.1805A>G (p.His602Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189894303A>TCA355751323TP63c.1844A>T (p.His615Leu)
c.1562A>T (p.His521Leu)
c.*72A>T (n.*72A>T)
c.1832A>T (p.His611Leu)
c.1307A>T (p.His436Leu)
c.1550A>T (p.His517Leu)
c.*82A>T (n.*82A>T)
c.1793A>T (p.His598Leu)
c.1841A>T (p.His614Leu)
c.1838A>T (p.His613Leu)
c.1805A>T (p.His602Leu)
 dbSNP gnomAD v4
3g.189894304T>ACA355751325TP63c.1845T>A (p.His615Gln)
c.1563T>A (p.His521Gln)
c.*73T>A (n.*73T>A)
c.1833T>A (p.His611Gln)
c.1308T>A (p.His436Gln)
c.1551T>A (p.His517Gln)
c.*83T>A (n.*83T>A)
c.1794T>A (p.His598Gln)
c.1842T>A (p.His614Gln)
c.1839T>A (p.His613Gln)
c.1806T>A (p.His602Gln)
3g.189894304T>CCA437637075TP63c.1845T>C (p.His615=)
c.1563T>C (p.His521=)
c.*73T>C (n.*73T>C)
c.1833T>C (p.His611=)
c.1308T>C (p.His436=)
c.1551T>C (p.His517=)
c.*83T>C (n.*83T>C)
c.1794T>C (p.His598=)
c.1842T>C (p.His614=)
c.1839T>C (p.His613=)
c.1806T>C (p.His602=)
 dbSNP
3g.189894304T>GCA355751324TP63c.1845T>G (p.His615Gln)
c.1563T>G (p.His521Gln)
c.*73T>G (n.*73T>G)
c.1833T>G (p.His611Gln)
c.1308T>G (p.His436Gln)
c.1551T>G (p.His517Gln)
c.*83T>G (n.*83T>G)
c.1794T>G (p.His598Gln)
c.1842T>G (p.His614Gln)
c.1839T>G (p.His613Gln)
c.1806T>G (p.His602Gln)
3g.189894304_189894305delinsTCCA1428535234TP63c.1845_1846delinsTC (p.His615=)
c.1563_1564delinsTC (p.His521=)
c.*73_*74delinsTC (n.*73_*74delinsTC)
c.1833_1834delinsTC (p.His611=)
c.1308_1309delinsTC (p.His436=)
c.1551_1552delinsTC (p.His517=)
c.*83_*84delinsTC (n.*83_*84delinsTC)
c.1794_1795delinsTC (p.His598=)
c.1842_1843delinsTC (p.His614=)
c.1839_1840delinsTC (p.His613=)
c.1806_1807delinsTC (p.His602=)
3g.189894305delCA343282TP63c.1846del (p.Leu616SerfsTer?)
c.1564del (p.Leu522SerfsTer?)
c.*74del (n.*74del)
c.1834del (p.Leu612SerfsTer?)
c.1309del (p.Leu437SerfsTer?)
c.1552del (p.Leu518SerfsTer?)
c.*84del (n.*84del)
c.1795del (p.Leu599SerfsTer?)
c.1843del (p.Leu615SerfsTer?)
c.1840del (p.Leu614SerfsTer?)
c.1807del (p.Leu603SerfsTer?)
 ClinVar dbSNP
3g.189894305C>ACA355751326TP63c.1846C>A (p.Leu616Ile)
c.1564C>A (p.Leu522Ile)
c.*74C>A (n.*74C>A)
c.1834C>A (p.Leu612Ile)
c.1309C>A (p.Leu437Ile)
c.1552C>A (p.Leu518Ile)
c.*84C>A (n.*84C>A)
c.1795C>A (p.Leu599Ile)
c.1843C>A (p.Leu615Ile)
c.1840C>A (p.Leu614Ile)
c.1807C>A (p.Leu603Ile)
 dbSNP
3g.189894305C>GCA355751327TP63c.1846C>G (p.Leu616Val)
c.1564C>G (p.Leu522Val)
c.*74C>G (n.*74C>G)
c.1834C>G (p.Leu612Val)
c.1309C>G (p.Leu437Val)
c.1552C>G (p.Leu518Val)
c.*84C>G (n.*84C>G)
c.1795C>G (p.Leu599Val)
c.1843C>G (p.Leu615Val)
c.1840C>G (p.Leu614Val)
c.1807C>G (p.Leu603Val)
3g.189894305C>TCA355751328TP63c.1846C>T (p.Leu616Phe)
c.1564C>T (p.Leu522Phe)
c.*74C>T (n.*74C>T)
c.1834C>T (p.Leu612Phe)
c.1309C>T (p.Leu437Phe)
c.1552C>T (p.Leu518Phe)
c.*84C>T (n.*84C>T)
c.1795C>T (p.Leu599Phe)
c.1843C>T (p.Leu615Phe)
c.1840C>T (p.Leu614Phe)
c.1807C>T (p.Leu603Phe)
 ClinVar dbSNP
3g.189894306T>ACA355751329TP63c.1847T>A (p.Leu616His)
c.1565T>A (p.Leu522His)
c.*75T>A (n.*75T>A)
c.1835T>A (p.Leu612His)
c.1310T>A (p.Leu437His)
c.1553T>A (p.Leu518His)
c.*85T>A (n.*85T>A)
c.1796T>A (p.Leu599His)
c.1844T>A (p.Leu615His)
c.1841T>A (p.Leu614His)
c.1808T>A (p.Leu603His)
3g.189894306T>CCA355751330TP63c.1847T>C (p.Leu616Pro)
c.1565T>C (p.Leu522Pro)
c.*75T>C (n.*75T>C)
c.1835T>C (p.Leu612Pro)
c.1310T>C (p.Leu437Pro)
c.1553T>C (p.Leu518Pro)
c.*85T>C (n.*85T>C)
c.1796T>C (p.Leu599Pro)
c.1844T>C (p.Leu615Pro)
c.1841T>C (p.Leu614Pro)
c.1808T>C (p.Leu603Pro)
3g.189894306T>GCA355751331TP63c.1847T>G (p.Leu616Arg)
c.1565T>G (p.Leu522Arg)
c.*75T>G (n.*75T>G)
c.1835T>G (p.Leu612Arg)
c.1310T>G (p.Leu437Arg)
c.1553T>G (p.Leu518Arg)
c.*85T>G (n.*85T>G)
c.1796T>G (p.Leu599Arg)
c.1844T>G (p.Leu615Arg)
c.1841T>G (p.Leu614Arg)
c.1808T>G (p.Leu603Arg)
3g.189894307C>ACA437637077TP63c.1848C>A (p.Leu616=)
c.1566C>A (p.Leu522=)
c.*76C>A (n.*76C>A)
c.1836C>A (p.Leu612=)
c.1311C>A (p.Leu437=)
c.1554C>A (p.Leu518=)
c.*86C>A (n.*86C>A)
c.1797C>A (p.Leu599=)
c.1845C>A (p.Leu615=)
c.1842C>A (p.Leu614=)
c.1809C>A (p.Leu603=)
3g.189894307C>GCA437637078TP63c.1848C>G (p.Leu616=)
c.1566C>G (p.Leu522=)
c.*76C>G (n.*76C>G)
c.1836C>G (p.Leu612=)
c.1311C>G (p.Leu437=)
c.1554C>G (p.Leu518=)
c.*86C>G (n.*86C>G)
c.1797C>G (p.Leu599=)
c.1845C>G (p.Leu615=)
c.1842C>G (p.Leu614=)
c.1809C>G (p.Leu603=)
 dbSNP
3g.189894307C>TCA437637080TP63c.1848C>T (p.Leu616=)
c.1566C>T (p.Leu522=)
c.*76C>T (n.*76C>T)
c.1836C>T (p.Leu612=)
c.1311C>T (p.Leu437=)
c.1554C>T (p.Leu518=)
c.*86C>T (n.*86C>T)
c.1797C>T (p.Leu599=)
c.1845C>T (p.Leu615=)
c.1842C>T (p.Leu614=)
c.1809C>T (p.Leu603=)
 dbSNP COSMIC COSMIC
3g.189894308C>ACA355751332TP63c.1849C>A (p.Leu617Met)
c.1567C>A (p.Leu523Met)
c.*77C>A (n.*77C>A)
c.1837C>A (p.Leu613Met)
c.1312C>A (p.Leu438Met)
c.1555C>A (p.Leu519Met)
c.*87C>A (n.*87C>A)
c.1798C>A (p.Leu600Met)
c.1846C>A (p.Leu616Met)
c.1843C>A (p.Leu615Met)
c.1810C>A (p.Leu604Met)
 dbSNP
3g.189894308C>GCA355751333TP63c.1849C>G (p.Leu617Val)
c.1567C>G (p.Leu523Val)
c.*77C>G (n.*77C>G)
c.1837C>G (p.Leu613Val)
c.1312C>G (p.Leu438Val)
c.1555C>G (p.Leu519Val)
c.*87C>G (n.*87C>G)
c.1798C>G (p.Leu600Val)
c.1846C>G (p.Leu616Val)
c.1843C>G (p.Leu615Val)
c.1810C>G (p.Leu604Val)
 dbSNP
3g.189894308C>TCA437637081TP63c.1849C>T (p.Leu617=)
c.1567C>T (p.Leu523=)
c.*77C>T (n.*77C>T)
c.1837C>T (p.Leu613=)
c.1312C>T (p.Leu438=)
c.1555C>T (p.Leu519=)
c.*87C>T (n.*87C>T)
c.1798C>T (p.Leu600=)
c.1846C>T (p.Leu616=)
c.1843C>T (p.Leu615=)
c.1810C>T (p.Leu604=)
 dbSNP
3g.189894309T>ACA355751334TP63c.1850T>A (p.Leu617Gln)
c.1568T>A (p.Leu523Gln)
c.*78T>A (n.*78T>A)
c.1838T>A (p.Leu613Gln)
c.1313T>A (p.Leu438Gln)
c.1556T>A (p.Leu519Gln)
c.*88T>A (n.*88T>A)
c.1799T>A (p.Leu600Gln)
c.1847T>A (p.Leu616Gln)
c.1844T>A (p.Leu615Gln)
c.1811T>A (p.Leu604Gln)
3g.189894309T>CCA355751335TP63c.1850T>C (p.Leu617Pro)
c.1568T>C (p.Leu523Pro)
c.*78T>C (n.*78T>C)
c.1838T>C (p.Leu613Pro)
c.1313T>C (p.Leu438Pro)
c.1556T>C (p.Leu519Pro)
c.*88T>C (n.*88T>C)
c.1799T>C (p.Leu600Pro)
c.1847T>C (p.Leu616Pro)
c.1844T>C (p.Leu615Pro)
c.1811T>C (p.Leu604Pro)
3g.189894309T>GCA355751336TP63c.1850T>G (p.Leu617Arg)
c.1568T>G (p.Leu523Arg)
c.*78T>G (n.*78T>G)
c.1838T>G (p.Leu613Arg)
c.1313T>G (p.Leu438Arg)
c.1556T>G (p.Leu519Arg)
c.*88T>G (n.*88T>G)
c.1799T>G (p.Leu600Arg)
c.1847T>G (p.Leu616Arg)
c.1844T>G (p.Leu615Arg)
c.1811T>G (p.Leu604Arg)
3g.189894310G>ACA2752587TP63c.1851G>A (p.Leu617=)
c.1569G>A (p.Leu523=)
c.*79G>A (n.*79G>A)
c.1839G>A (p.Leu613=)
c.1314G>A (p.Leu438=)
c.1557G>A (p.Leu519=)
c.*89G>A (n.*89G>A)
c.1800G>A (p.Leu600=)
c.1848G>A (p.Leu616=)
c.1845G>A (p.Leu615=)
c.1812G>A (p.Leu604=)
 dbSNP ExAC gnomAD v2
3g.189894310G>CCA437637085TP63c.1851G>C (p.Leu617=)
c.1569G>C (p.Leu523=)
c.*79G>C (n.*79G>C)
c.1839G>C (p.Leu613=)
c.1314G>C (p.Leu438=)
c.1557G>C (p.Leu519=)
c.*89G>C (n.*89G>C)
c.1800G>C (p.Leu600=)
c.1848G>C (p.Leu616=)
c.1845G>C (p.Leu615=)
c.1812G>C (p.Leu604=)
 dbSNP
3g.189894310G=CA1428535235TP63c.1851G= (p.Leu617=)
c.1569G= (p.Leu523=)
c.*79G= (n.*79G=)
c.1839G= (p.Leu613=)
c.1314G= (p.Leu438=)
c.1557G= (p.Leu519=)
c.*89G= (n.*89G=)
c.1800G= (p.Leu600=)
c.1848G= (p.Leu616=)
c.1845G= (p.Leu615=)
c.1812G= (p.Leu604=)
3g.189894310G>TCA437637086TP63c.1851G>T (p.Leu617=)
c.1569G>T (p.Leu523=)
c.*79G>T (n.*79G>T)
c.1839G>T (p.Leu613=)
c.1314G>T (p.Leu438=)
c.1557G>T (p.Leu519=)
c.*89G>T (n.*89G>T)
c.1800G>T (p.Leu600=)
c.1848G>T (p.Leu616=)
c.1845G>T (p.Leu615=)
c.1812G>T (p.Leu604=)
 dbSNP
3g.189894310_189894311delinsTTCA2697557022TP63c.1851_1852delinsTT (p.Arg618Trp)
c.1569_1570delinsTT (p.Arg524Trp)
c.*79_*80delinsTT (n.*79_*80delinsTT)
c.1839_1840delinsTT (p.Arg614Trp)
c.1314_1315delinsTT (p.Arg439Trp)
c.1557_1558delinsTT (p.Arg520Trp)
c.*89_*90delinsTT (n.*89_*90delinsTT)
c.1800_1801delinsTT (p.Arg601Trp)
c.1848_1849delinsTT (p.Arg617Trp)
c.1845_1846delinsTT (p.Arg616Trp)
c.1812_1813delinsTT (p.Arg605Trp)
 ClinVar
3g.189894311C>ACA437637087TP63c.1852C>A (p.Arg618=)
c.1570C>A (p.Arg524=)
c.*80C>A (n.*80C>A)
c.1840C>A (p.Arg614=)
c.1315C>A (p.Arg439=)
c.1558C>A (p.Arg520=)
c.*90C>A (n.*90C>A)
c.1801C>A (p.Arg601=)
c.1849C>A (p.Arg617=)
c.1846C>A (p.Arg616=)
c.1813C>A (p.Arg605=)
 ClinVar dbSNP gnomAD v4
3g.189894311C=CA1428535236TP63c.1852C= (p.Arg618=)
c.1570C= (p.Arg524=)
c.*80C= (n.*80C=)
c.1840C= (p.Arg614=)
c.1315C= (p.Arg439=)
c.1558C= (p.Arg520=)
c.*90C= (n.*90C=)
c.1801C= (p.Arg601=)
c.1849C= (p.Arg617=)
c.1846C= (p.Arg616=)
c.1813C= (p.Arg605=)
3g.189894311C>GCA355751337TP63c.1852C>G (p.Arg618Gly)
c.1570C>G (p.Arg524Gly)
c.*80C>G (n.*80C>G)
c.1840C>G (p.Arg614Gly)
c.1315C>G (p.Arg439Gly)
c.1558C>G (p.Arg520Gly)
c.*90C>G (n.*90C>G)
c.1801C>G (p.Arg601Gly)
c.1849C>G (p.Arg617Gly)
c.1846C>G (p.Arg616Gly)
c.1813C>G (p.Arg605Gly)
 dbSNP gnomAD v4
3g.189894311C>TCA355751338TP63c.1852C>T (p.Arg618Trp)
c.1570C>T (p.Arg524Trp)
c.*80C>T (n.*80C>T)
c.1840C>T (p.Arg614Trp)
c.1315C>T (p.Arg439Trp)
c.1558C>T (p.Arg520Trp)
c.*90C>T (n.*90C>T)
c.1801C>T (p.Arg601Trp)
c.1849C>T (p.Arg617Trp)
c.1846C>T (p.Arg616Trp)
c.1813C>T (p.Arg605Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189894312G>ACA2752588TP63c.1853G>A (p.Arg618Gln)
c.1571G>A (p.Arg524Gln)
c.*81G>A (n.*81G>A)
c.1841G>A (p.Arg614Gln)
c.1316G>A (p.Arg439Gln)
c.1559G>A (p.Arg520Gln)
c.*91G>A (n.*91G>A)
c.1802G>A (p.Arg601Gln)
c.1850G>A (p.Arg617Gln)
c.1847G>A (p.Arg616Gln)
c.1814G>A (p.Arg605Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894312G>CCA355751339TP63c.1853G>C (p.Arg618Pro)
c.1571G>C (p.Arg524Pro)
c.*81G>C (n.*81G>C)
c.1841G>C (p.Arg614Pro)
c.1316G>C (p.Arg439Pro)
c.1559G>C (p.Arg520Pro)
c.*91G>C (n.*91G>C)
c.1802G>C (p.Arg601Pro)
c.1850G>C (p.Arg617Pro)
c.1847G>C (p.Arg616Pro)
c.1814G>C (p.Arg605Pro)
 dbSNP
3g.189894312G=CA1428535237TP63c.1853G= (p.Arg618=)
c.1571G= (p.Arg524=)
c.*81G= (n.*81G=)
c.1841G= (p.Arg614=)
c.1316G= (p.Arg439=)
c.1559G= (p.Arg520=)
c.*91G= (n.*91G=)
c.1802G= (p.Arg601=)
c.1850G= (p.Arg617=)
c.1847G= (p.Arg616=)
c.1814G= (p.Arg605=)
3g.189894312G>TCA355751340TP63c.1853G>T (p.Arg618Leu)
c.1571G>T (p.Arg524Leu)
c.*81G>T (n.*81G>T)
c.1841G>T (p.Arg614Leu)
c.1316G>T (p.Arg439Leu)
c.1559G>T (p.Arg520Leu)
c.*91G>T (n.*91G>T)
c.1802G>T (p.Arg601Leu)
c.1850G>T (p.Arg617Leu)
c.1847G>T (p.Arg616Leu)
c.1814G>T (p.Arg605Leu)
 dbSNP
3g.189894313G>ACA437637089TP63c.1854G>A (p.Arg618=)
c.1572G>A (p.Arg524=)
c.*82G>A (n.*82G>A)
c.1842G>A (p.Arg614=)
c.1317G>A (p.Arg439=)
c.1560G>A (p.Arg520=)
c.*92G>A (n.*92G>A)
c.1803G>A (p.Arg601=)
c.1851G>A (p.Arg617=)
c.1848G>A (p.Arg616=)
c.1815G>A (p.Arg605=)
 dbSNP gnomAD v4
3g.189894313G>CCA437637091TP63c.1854G>C (p.Arg618=)
c.1572G>C (p.Arg524=)
c.*82G>C (n.*82G>C)
c.1842G>C (p.Arg614=)
c.1317G>C (p.Arg439=)
c.1560G>C (p.Arg520=)
c.*92G>C (n.*92G>C)
c.1803G>C (p.Arg601=)
c.1851G>C (p.Arg617=)
c.1848G>C (p.Arg616=)
c.1815G>C (p.Arg605=)
 dbSNP
3g.189894313G>TCA437637092TP63c.1854G>T (p.Arg618=)
c.1572G>T (p.Arg524=)
c.*82G>T (n.*82G>T)
c.1842G>T (p.Arg614=)
c.1317G>T (p.Arg439=)
c.1560G>T (p.Arg520=)
c.*92G>T (n.*92G>T)
c.1803G>T (p.Arg601=)
c.1851G>T (p.Arg617=)
c.1848G>T (p.Arg616=)
c.1815G>T (p.Arg605=)
 dbSNP

Number of alleles fetched