Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.50490331A>CCA490561808USP8c.2040A>C (p.Pro680=)
c.1722A>C (p.Pro574=)
n.457A>C
c.1953A>C (p.Pro651=)
c.1368A>C (p.Pro456=)
c.1470A>C (p.Pro490=)
15g.50490331A>GCA490561809USP8c.2040A>G (p.Pro680=)
c.1722A>G (p.Pro574=)
n.457A>G
c.1953A>G (p.Pro651=)
c.1368A>G (p.Pro456=)
c.1470A>G (p.Pro490=)
15g.50490331A>TCA490561810USP8c.2040A>T (p.Pro680=)
c.1722A>T (p.Pro574=)
n.457A>T
c.1953A>T (p.Pro651=)
c.1368A>T (p.Pro456=)
c.1470A>T (p.Pro490=)
15g.50490332C>ACA392398716USP8c.2041C>A (p.Pro681Thr)
c.1723C>A (p.Pro575Thr)
n.458C>A
c.1954C>A (p.Pro652Thr)
c.1369C>A (p.Pro457Thr)
c.1471C>A (p.Pro491Thr)
dbSNP
15g.50490332C>GCA392398718USP8c.2041C>G (p.Pro681Ala)
c.1723C>G (p.Pro575Ala)
n.458C>G
c.1954C>G (p.Pro652Ala)
c.1369C>G (p.Pro457Ala)
c.1471C>G (p.Pro491Ala)
dbSNP
15g.50490332C>TCA392398720USP8c.2041C>T (p.Pro681Ser)
c.1723C>T (p.Pro575Ser)
n.458C>T
c.1954C>T (p.Pro652Ser)
c.1369C>T (p.Pro457Ser)
c.1471C>T (p.Pro491Ser)
15g.50490333C>ACA392398722USP8c.2042C>A (p.Pro681Gln)
c.1724C>A (p.Pro575Gln)
n.459C>A
c.1955C>A (p.Pro652Gln)
c.1370C>A (p.Pro457Gln)
c.1472C>A (p.Pro491Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.50490333C=CA2176424866USP8c.2042C= (p.Pro681=)
c.1724C= (p.Pro575=)
n.459C=
c.1955C= (p.Pro652=)
c.1370C= (p.Pro457=)
c.1472C= (p.Pro491=)
15g.50490333C>GCA392398723USP8c.2042C>G (p.Pro681Arg)
c.1724C>G (p.Pro575Arg)
n.459C>G
c.1955C>G (p.Pro652Arg)
c.1370C>G (p.Pro457Arg)
c.1472C>G (p.Pro491Arg)
dbSNP
15g.50490333C>TCA392398725USP8c.2042C>T (p.Pro681Leu)
c.1724C>T (p.Pro575Leu)
n.459C>T
c.1955C>T (p.Pro652Leu)
c.1370C>T (p.Pro457Leu)
c.1472C>T (p.Pro491Leu)
dbSNP gnomAD v3 gnomAD v4 COSMIC
15g.50490334G>ACA490561811USP8c.2043G>A (p.Pro681=)
c.1725G>A (p.Pro575=)
n.460G>A
c.1956G>A (p.Pro652=)
c.1371G>A (p.Pro457=)
c.1473G>A (p.Pro491=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.50490334G>CCA490561812USP8c.2043G>C (p.Pro681=)
c.1725G>C (p.Pro575=)
n.460G>C
c.1956G>C (p.Pro652=)
c.1371G>C (p.Pro457=)
c.1473G>C (p.Pro491=)
15g.50490334G=CA2176424867USP8c.2043G= (p.Pro681=)
c.1725G= (p.Pro575=)
n.460G=
c.1956G= (p.Pro652=)
c.1371G= (p.Pro457=)
c.1473G= (p.Pro491=)
15g.50490334G>TCA490561813USP8c.2043G>T (p.Pro681=)
c.1725G>T (p.Pro575=)
n.460G>T
c.1956G>T (p.Pro652=)
c.1371G>T (p.Pro457=)
c.1473G>T (p.Pro491=)
15g.50490335G>ACA392398727USP8c.2044G>A (p.Glu682Lys)
c.1726G>A (p.Glu576Lys)
n.461G>A
c.1957G>A (p.Glu653Lys)
c.1372G>A (p.Glu458Lys)
c.1474G>A (p.Glu492Lys)
dbSNP
15g.50490335G>CCA392398730USP8c.2044G>C (p.Glu682Gln)
c.1726G>C (p.Glu576Gln)
n.461G>C
c.1957G>C (p.Glu653Gln)
c.1372G>C (p.Glu458Gln)
c.1474G>C (p.Glu492Gln)
15g.50490335G>TCA392398729USP8c.2044G>T (p.Glu682Ter)
c.1726G>T (p.Glu576Ter)
n.461G>T
c.1957G>T (p.Glu653Ter)
c.1372G>T (p.Glu458Ter)
c.1474G>T (p.Glu492Ter)
15g.50490336A>CCA392398733USP8c.2045A>C (p.Glu682Ala)
c.1727A>C (p.Glu576Ala)
n.462A>C
c.1958A>C (p.Glu653Ala)
c.1373A>C (p.Glu458Ala)
c.1475A>C (p.Glu492Ala)
15g.50490336A>GCA392398734USP8c.2045A>G (p.Glu682Gly)
c.1727A>G (p.Glu576Gly)
n.462A>G
c.1958A>G (p.Glu653Gly)
c.1373A>G (p.Glu458Gly)
c.1475A>G (p.Glu492Gly)
15g.50490336A>TCA392398736USP8c.2045A>T (p.Glu682Val)
c.1727A>T (p.Glu576Val)
n.462A>T
c.1958A>T (p.Glu653Val)
c.1373A>T (p.Glu458Val)
c.1475A>T (p.Glu492Val)
15g.50490337A>CCA392398738USP8c.2046A>C (p.Glu682Asp)
c.1728A>C (p.Glu576Asp)
n.463A>C
c.1959A>C (p.Glu653Asp)
c.1374A>C (p.Glu458Asp)
c.1476A>C (p.Glu492Asp)
15g.50490337A>GCA490561814USP8c.2046A>G (p.Glu682=)
c.1728A>G (p.Glu576=)
n.463A>G
c.1959A>G (p.Glu653=)
c.1374A>G (p.Glu458=)
c.1476A>G (p.Glu492=)
15g.50490337A>TCA392398740USP8c.2046A>T (p.Glu682Asp)
c.1728A>T (p.Glu576Asp)
n.463A>T
c.1959A>T (p.Glu653Asp)
c.1374A>T (p.Glu458Asp)
c.1476A>T (p.Glu492Asp)
15g.50490338A>CCA392398741USP8c.2047A>C (p.Met683Leu)
c.1729A>C (p.Met577Leu)
n.464A>C
c.1960A>C (p.Met654Leu)
c.1375A>C (p.Met459Leu)
c.1477A>C (p.Met493Leu)
15g.50490338A>GCA392398753USP8c.2047A>G (p.Met683Val)
c.1729A>G (p.Met577Val)
n.464A>G
c.1960A>G (p.Met654Val)
c.1375A>G (p.Met459Val)
c.1477A>G (p.Met493Val)
15g.50490338A>TCA392398755USP8c.2047A>T (p.Met683Leu)
c.1729A>T (p.Met577Leu)
n.464A>T
c.1960A>T (p.Met654Leu)
c.1375A>T (p.Met459Leu)
c.1477A>T (p.Met493Leu)
gnomAD v4
15g.50490339T>ACA392398758USP8c.2048T>A (p.Met683Lys)
c.1730T>A (p.Met577Lys)
n.465T>A
c.1961T>A (p.Met654Lys)
c.1376T>A (p.Met459Lys)
c.1478T>A (p.Met493Lys)
15g.50490339T>CCA392398760USP8c.2048T>C (p.Met683Thr)
c.1730T>C (p.Met577Thr)
n.465T>C
c.1961T>C (p.Met654Thr)
c.1376T>C (p.Met459Thr)
c.1478T>C (p.Met493Thr)
dbSNP gnomAD v4
15g.50490339T>GCA392398762USP8c.2048T>G (p.Met683Arg)
c.1730T>G (p.Met577Arg)
n.465T>G
c.1961T>G (p.Met654Arg)
c.1376T>G (p.Met459Arg)
c.1478T>G (p.Met493Arg)
15g.50490339T=CA2176424868USP8c.2048T= (p.Met683=)
c.1730T= (p.Met577=)
n.465T=
c.1961T= (p.Met654=)
c.1376T= (p.Met459=)
c.1478T= (p.Met493=)
15g.50490340G>ACA392398765USP8c.2049G>A (p.Met683Ile)
c.1731G>A (p.Met577Ile)
n.466G>A
c.1962G>A (p.Met654Ile)
c.1377G>A (p.Met459Ile)
c.1479G>A (p.Met493Ile)
dbSNP
15g.50490340G>CCA392398767USP8c.2049G>C (p.Met683Ile)
c.1731G>C (p.Met577Ile)
n.466G>C
c.1962G>C (p.Met654Ile)
c.1377G>C (p.Met459Ile)
c.1479G>C (p.Met493Ile)
dbSNP
15g.50490340G=CA2176424869USP8c.2049G= (p.Met683=)
c.1731G= (p.Met577=)
n.466G=
c.1962G= (p.Met654=)
c.1377G= (p.Met459=)
c.1479G= (p.Met493=)
15g.50490340G>TCA392398764USP8c.2049G>T (p.Met683Ile)
c.1731G>T (p.Met577Ile)
n.466G>T
c.1962G>T (p.Met654Ile)
c.1377G>T (p.Met459Ile)
c.1479G>T (p.Met493Ile)
15g.50490341G>ACA392398769USP8c.2050G>A (p.Ala684Thr)
c.1732G>A (p.Ala578Thr)
n.467G>A
c.1963G>A (p.Ala655Thr)
c.1378G>A (p.Ala460Thr)
c.1480G>A (p.Ala494Thr)
dbSNP gnomAD v4
15g.50490341G>CCA7555882USP8c.2050G>C (p.Ala684Pro)
c.1732G>C (p.Ala578Pro)
n.467G>C
c.1963G>C (p.Ala655Pro)
c.1378G>C (p.Ala460Pro)
c.1480G>C (p.Ala494Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490341G=CA2176424870USP8c.2050G= (p.Ala684=)
c.1732G= (p.Ala578=)
n.467G=
c.1963G= (p.Ala655=)
c.1378G= (p.Ala460=)
c.1480G= (p.Ala494=)
15g.50490341G>TCA392398771USP8c.2050G>T (p.Ala684Ser)
c.1732G>T (p.Ala578Ser)
n.467G>T
c.1963G>T (p.Ala655Ser)
c.1378G>T (p.Ala460Ser)
c.1480G>T (p.Ala494Ser)
15g.50490342C>ACA392398773USP8c.2051C>A (p.Ala684Asp)
c.1733C>A (p.Ala578Asp)
n.468C>A
c.1964C>A (p.Ala655Asp)
c.1379C>A (p.Ala460Asp)
c.1481C>A (p.Ala494Asp)
dbSNP gnomAD v2
15g.50490342C=CA2176424871USP8c.2051C= (p.Ala684=)
c.1733C= (p.Ala578=)
n.468C=
c.1964C= (p.Ala655=)
c.1379C= (p.Ala460=)
c.1481C= (p.Ala494=)
15g.50490342C>GCA392398775USP8c.2051C>G (p.Ala684Gly)
c.1733C>G (p.Ala578Gly)
n.468C>G
c.1964C>G (p.Ala655Gly)
c.1379C>G (p.Ala460Gly)
c.1481C>G (p.Ala494Gly)
15g.50490342C>TCA392398776USP8c.2051C>T (p.Ala684Val)
c.1733C>T (p.Ala578Val)
n.468C>T
c.1964C>T (p.Ala655Val)
c.1379C>T (p.Ala460Val)
c.1481C>T (p.Ala494Val)
gnomAD v4 COSMIC
15g.50490343T>ACA490561817USP8c.2052T>A (p.Ala684=)
c.1734T>A (p.Ala578=)
n.469T>A
c.1965T>A (p.Ala655=)
c.1380T>A (p.Ala460=)
c.1482T>A (p.Ala494=)
15g.50490343T>CCA490561816USP8c.2052T>C (p.Ala684=)
c.1734T>C (p.Ala578=)
n.469T>C
c.1965T>C (p.Ala655=)
c.1380T>C (p.Ala460=)
c.1482T>C (p.Ala494=)
15g.50490343T>GCA490561815USP8c.2052T>G (p.Ala684=)
c.1734T>G (p.Ala578=)
n.469T>G
c.1965T>G (p.Ala655=)
c.1380T>G (p.Ala460=)
c.1482T>G (p.Ala494=)
15g.50490344C>ACA392398781USP8c.2053C>A (p.Pro685Thr)
c.1735C>A (p.Pro579Thr)
n.470C>A
c.1966C>A (p.Pro656Thr)
c.1381C>A (p.Pro461Thr)
c.1483C>A (p.Pro495Thr)
15g.50490344C=CA2176424872USP8c.2053C= (p.Pro685=)
c.1735C= (p.Pro579=)
n.470C=
c.1966C= (p.Pro656=)
c.1381C= (p.Pro461=)
c.1483C= (p.Pro495=)
15g.50490344C>GCA392398778USP8c.2053C>G (p.Pro685Ala)
c.1735C>G (p.Pro579Ala)
n.470C>G
c.1966C>G (p.Pro656Ala)
c.1381C>G (p.Pro461Ala)
c.1483C>G (p.Pro495Ala)
dbSNP
15g.50490344C>TCA392398780USP8c.2053C>T (p.Pro685Ser)
c.1735C>T (p.Pro579Ser)
n.470C>T
c.1966C>T (p.Pro656Ser)
c.1381C>T (p.Pro461Ser)
c.1483C>T (p.Pro495Ser)
gnomAD v4
15g.50490345C>ACA392398784USP8c.2054C>A (p.Pro685His)
c.1736C>A (p.Pro579His)
n.471C>A
c.1967C>A (p.Pro656His)
c.1382C>A (p.Pro461His)
c.1484C>A (p.Pro495His)
15g.50490345C>GCA392398786USP8c.2054C>G (p.Pro685Arg)
c.1736C>G (p.Pro579Arg)
n.471C>G
c.1967C>G (p.Pro656Arg)
c.1382C>G (p.Pro461Arg)
c.1484C>G (p.Pro495Arg)
15g.50490345C>TCA392398788USP8c.2054C>T (p.Pro685Leu)
c.1736C>T (p.Pro579Leu)
n.471C>T
c.1967C>T (p.Pro656Leu)
c.1382C>T (p.Pro461Leu)
c.1484C>T (p.Pro495Leu)
gnomAD v4
15g.50490346T>ACA490561818USP8c.2055T>A (p.Pro685=)
c.1737T>A (p.Pro579=)
n.472T>A
c.1968T>A (p.Pro656=)
c.1383T>A (p.Pro461=)
c.1485T>A (p.Pro495=)
15g.50490346T>CCA490561819USP8c.2055T>C (p.Pro685=)
c.1737T>C (p.Pro579=)
n.472T>C
c.1968T>C (p.Pro656=)
c.1383T>C (p.Pro461=)
c.1485T>C (p.Pro495=)
gnomAD v4
15g.50490346T>GCA270503374USP8c.2055T>G (p.Pro685=)
c.1737T>G (p.Pro579=)
n.472T>G
c.1968T>G (p.Pro656=)
c.1383T>G (p.Pro461=)
c.1485T>G (p.Pro495=)
dbSNP gnomAD v3 gnomAD v4
15g.50490346T=CA2176424873USP8c.2055T= (p.Pro685=)
c.1737T= (p.Pro579=)
n.472T=
c.1968T= (p.Pro656=)
c.1383T= (p.Pro461=)
c.1485T= (p.Pro495=)
15g.50490346_50490347insGATTGGGCA2730875056USP8c.2055_2056insGATTGGG (p.Ser686AspfsTer14)
c.1737_1738insGATTGGG (p.Ser580AspfsTer14)
n.472_473insGATTGGG
c.1968_1969insGATTGGG (p.Ser657AspfsTer14)
c.1383_1384insGATTGGG (p.Ser462AspfsTer14)
c.1485_1486insGATTGGG (p.Ser496AspfsTer14)
dbSNP
15g.50490347T>ACA392398790USP8c.2056T>A (p.Ser686Thr)
c.1738T>A (p.Ser580Thr)
n.473T>A
c.1969T>A (p.Ser657Thr)
c.1384T>A (p.Ser462Thr)
c.1486T>A (p.Ser496Thr)
15g.50490347T>CCA392398791USP8c.2056T>C (p.Ser686Pro)
c.1738T>C (p.Ser580Pro)
n.473T>C
c.1969T>C (p.Ser657Pro)
c.1384T>C (p.Ser462Pro)
c.1486T>C (p.Ser496Pro)
15g.50490347T>GCA392398793USP8c.2056T>G (p.Ser686Ala)
c.1738T>G (p.Ser580Ala)
n.473T>G
c.1969T>G (p.Ser657Ala)
c.1384T>G (p.Ser462Ala)
c.1486T>G (p.Ser496Ala)
COSMIC
15g.50490348C>ACA392398795USP8c.2057C>A (p.Ser686Ter)
c.1739C>A (p.Ser580Ter)
n.474C>A
c.1970C>A (p.Ser657Ter)
c.1385C>A (p.Ser462Ter)
c.1487C>A (p.Ser496Ter)
15g.50490348C=CA2176424874USP8c.2057C= (p.Ser686=)
c.1739C= (p.Ser580=)
n.474C=
c.1970C= (p.Ser657=)
c.1385C= (p.Ser462=)
c.1487C= (p.Ser496=)
15g.50490348C>GCA392398798USP8c.2057C>G (p.Ser686Ter)
c.1739C>G (p.Ser580Ter)
n.474C>G
c.1970C>G (p.Ser657Ter)
c.1385C>G (p.Ser462Ter)
c.1487C>G (p.Ser496Ter)
15g.50490348C>TCA7555883USP8c.2057C>T (p.Ser686Leu)
c.1739C>T (p.Ser580Leu)
n.474C>T
c.1970C>T (p.Ser657Leu)
c.1385C>T (p.Ser462Leu)
c.1487C>T (p.Ser496Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490349A=CA2176424875USP8c.2058A= (p.Ser686=)
c.1740A= (p.Ser580=)
n.475A=
c.1971A= (p.Ser657=)
c.1386A= (p.Ser462=)
c.1488A= (p.Ser496=)
15g.50490349A>CCA490561820USP8c.2058A>C (p.Ser686=)
c.1740A>C (p.Ser580=)
n.475A>C
c.1971A>C (p.Ser657=)
c.1386A>C (p.Ser462=)
c.1488A>C (p.Ser496=)
15g.50490349A>GCA490561821USP8c.2058A>G (p.Ser686=)
c.1740A>G (p.Ser580=)
n.475A>G
c.1971A>G (p.Ser657=)
c.1386A>G (p.Ser462=)
c.1488A>G (p.Ser496=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.50490349A>TCA490561822USP8c.2058A>T (p.Ser686=)
c.1740A>T (p.Ser580=)
n.475A>T
c.1971A>T (p.Ser657=)
c.1386A>T (p.Ser462=)
c.1488A>T (p.Ser496=)
dbSNP
15g.50490350T>ACA392398800USP8c.2059T>A (p.Ser687Thr)
c.1741T>A (p.Ser581Thr)
n.476T>A
c.1972T>A (p.Ser658Thr)
c.1387T>A (p.Ser463Thr)
c.1489T>A (p.Ser497Thr)
15g.50490350T>CCA392398802USP8c.2059T>C (p.Ser687Pro)
c.1741T>C (p.Ser581Pro)
n.476T>C
c.1972T>C (p.Ser658Pro)
c.1387T>C (p.Ser463Pro)
c.1489T>C (p.Ser497Pro)
dbSNP gnomAD v4
15g.50490350T>GCA7555884USP8c.2059T>G (p.Ser687Ala)
c.1741T>G (p.Ser581Ala)
n.476T>G
c.1972T>G (p.Ser658Ala)
c.1387T>G (p.Ser463Ala)
c.1489T>G (p.Ser497Ala)
dbSNP ExAC gnomAD v2
15g.50490350T=CA2176424876USP8c.2059T= (p.Ser687=)
c.1741T= (p.Ser581=)
n.476T=
c.1972T= (p.Ser658=)
c.1387T= (p.Ser463=)
c.1489T= (p.Ser497=)
15g.50490351C>ACA392398804USP8c.2060C>A (p.Ser687Tyr)
c.1742C>A (p.Ser581Tyr)
n.477C>A
c.1973C>A (p.Ser658Tyr)
c.1388C>A (p.Ser463Tyr)
c.1490C>A (p.Ser497Tyr)
15g.50490351C=CA2176424877USP8c.2060C= (p.Ser687=)
c.1742C= (p.Ser581=)
n.477C=
c.1973C= (p.Ser658=)
c.1388C= (p.Ser463=)
c.1490C= (p.Ser497=)
15g.50490351C>GCA7555885USP8c.2060C>G (p.Ser687Cys)
c.1742C>G (p.Ser581Cys)
n.477C>G
c.1973C>G (p.Ser658Cys)
c.1388C>G (p.Ser463Cys)
c.1490C>G (p.Ser497Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50490351C>TCA392398806USP8c.2060C>T (p.Ser687Phe)
c.1742C>T (p.Ser581Phe)
n.477C>T
c.1973C>T (p.Ser658Phe)
c.1388C>T (p.Ser463Phe)
c.1490C>T (p.Ser497Phe)
15g.50490352T>ACA490561823USP8c.2061T>A (p.Ser687=)
c.1743T>A (p.Ser581=)
n.478T>A
c.1974T>A (p.Ser658=)
c.1389T>A (p.Ser463=)
c.1491T>A (p.Ser497=)
15g.50490352T>CCA490561824USP8c.2061T>C (p.Ser687=)
c.1743T>C (p.Ser581=)
n.478T>C
c.1974T>C (p.Ser658=)
c.1389T>C (p.Ser463=)
c.1491T>C (p.Ser497=)
15g.50490352T>GCA490561825USP8c.2061T>G (p.Ser687=)
c.1743T>G (p.Ser581=)
n.478T>G
c.1974T>G (p.Ser658=)
c.1389T>G (p.Ser463=)
c.1491T>G (p.Ser497=)
15g.50490353G>ACA392398808USP8c.2062G>A (p.Ala688Thr)
c.1744G>A (p.Ala582Thr)
n.479G>A
c.1975G>A (p.Ala659Thr)
c.1390G>A (p.Ala464Thr)
c.1492G>A (p.Ala498Thr)
dbSNP gnomAD v4
15g.50490353G>CCA392398809USP8c.2062G>C (p.Ala688Pro)
c.1744G>C (p.Ala582Pro)
n.479G>C
c.1975G>C (p.Ala659Pro)
c.1390G>C (p.Ala464Pro)
c.1492G>C (p.Ala498Pro)
dbSNP gnomAD v4
15g.50490353G>TCA392398811USP8c.2062G>T (p.Ala688Ser)
c.1744G>T (p.Ala582Ser)
n.479G>T
c.1975G>T (p.Ala659Ser)
c.1390G>T (p.Ala464Ser)
c.1492G>T (p.Ala498Ser)
COSMIC
15g.50490354C>ACA392398813USP8c.2063C>A (p.Ala688Glu)
c.1745C>A (p.Ala582Glu)
n.480C>A
c.1976C>A (p.Ala659Glu)
c.1391C>A (p.Ala464Glu)
c.1493C>A (p.Ala498Glu)
15g.50490354C=CA2176424878USP8c.2063C= (p.Ala688=)
c.1745C= (p.Ala582=)
n.480C=
c.1976C= (p.Ala659=)
c.1391C= (p.Ala464=)
c.1493C= (p.Ala498=)
15g.50490354C>GCA392398814USP8c.2063C>G (p.Ala688Gly)
c.1745C>G (p.Ala582Gly)
n.480C>G
c.1976C>G (p.Ala659Gly)
c.1391C>G (p.Ala464Gly)
c.1493C>G (p.Ala498Gly)
15g.50490354C>TCA7555886USP8c.2063C>T (p.Ala688Val)
c.1745C>T (p.Ala582Val)
n.480C>T
c.1976C>T (p.Ala659Val)
c.1391C>T (p.Ala464Val)
c.1493C>T (p.Ala498Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490355A=CA2176424879USP8c.2064A= (p.Ala688=)
c.1746A= (p.Ala582=)
n.481A=
c.1977A= (p.Ala659=)
c.1392A= (p.Ala464=)
c.1494A= (p.Ala498=)
15g.50490355A>CCA490561826USP8c.2064A>C (p.Ala688=)
c.1746A>C (p.Ala582=)
n.481A>C
c.1977A>C (p.Ala659=)
c.1392A>C (p.Ala464=)
c.1494A>C (p.Ala498=)
dbSNP
15g.50490355A>GCA490561827USP8c.2064A>G (p.Ala688=)
c.1746A>G (p.Ala582=)
n.481A>G
c.1977A>G (p.Ala659=)
c.1392A>G (p.Ala464=)
c.1494A>G (p.Ala498=)
dbSNP gnomAD v4
15g.50490355A>TCA490561828USP8c.2064A>T (p.Ala688=)
c.1746A>T (p.Ala582=)
n.481A>T
c.1977A>T (p.Ala659=)
c.1392A>T (p.Ala464=)
c.1494A>T (p.Ala498=)
15g.50490356C>ACA392398820USP8c.2065C>A (p.Pro689Thr)
c.1747C>A (p.Pro583Thr)
n.482C>A
c.1978C>A (p.Pro660Thr)
c.1393C>A (p.Pro465Thr)
c.1495C>A (p.Pro499Thr)
dbSNP
15g.50490356C>GCA392398817USP8c.2065C>G (p.Pro689Ala)
c.1747C>G (p.Pro583Ala)
n.482C>G
c.1978C>G (p.Pro660Ala)
c.1393C>G (p.Pro465Ala)
c.1495C>G (p.Pro499Ala)
15g.50490356C>TCA392398818USP8c.2065C>T (p.Pro689Ser)
c.1747C>T (p.Pro583Ser)
n.482C>T
c.1978C>T (p.Pro660Ser)
c.1393C>T (p.Pro465Ser)
c.1495C>T (p.Pro499Ser)
dbSNP
15g.50490357C>ACA392398822USP8c.2066C>A (p.Pro689His)
c.1748C>A (p.Pro583His)
n.483C>A
c.1979C>A (p.Pro660His)
c.1394C>A (p.Pro465His)
c.1496C>A (p.Pro499His)
15g.50490357C>GCA392398824USP8c.2066C>G (p.Pro689Arg)
c.1748C>G (p.Pro583Arg)
n.483C>G
c.1979C>G (p.Pro660Arg)
c.1394C>G (p.Pro465Arg)
c.1496C>G (p.Pro499Arg)
15g.50490357C>TCA392398825USP8c.2066C>T (p.Pro689Leu)
c.1748C>T (p.Pro583Leu)
n.483C>T
c.1979C>T (p.Pro660Leu)
c.1394C>T (p.Pro465Leu)
c.1496C>T (p.Pro499Leu)
dbSNP gnomAD v4
15g.50490358T>ACA490561829USP8c.2067T>A (p.Pro689=)
c.1749T>A (p.Pro583=)
n.484T>A
c.1980T>A (p.Pro660=)
c.1395T>A (p.Pro465=)
c.1497T>A (p.Pro499=)
15g.50490358T>CCA7555887USP8c.2067T>C (p.Pro689=)
c.1749T>C (p.Pro583=)
n.484T>C
c.1980T>C (p.Pro660=)
c.1395T>C (p.Pro465=)
c.1497T>C (p.Pro499=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50490358T>GCA490561830USP8c.2067T>G (p.Pro689=)
c.1749T>G (p.Pro583=)
n.484T>G
c.1980T>G (p.Pro660=)
c.1395T>G (p.Pro465=)
c.1497T>G (p.Pro499=)
15g.50490358T=CA2176424880USP8c.2067T= (p.Pro689=)
c.1749T= (p.Pro583=)
n.484T=
c.1980T= (p.Pro660=)
c.1395T= (p.Pro465=)
c.1497T= (p.Pro499=)
15g.50490359C>ACA392398827USP8c.2068C>A (p.Pro690Thr)
c.1750C>A (p.Pro584Thr)
n.485C>A
c.1981C>A (p.Pro661Thr)
c.1396C>A (p.Pro466Thr)
c.1498C>A (p.Pro500Thr)
COSMIC
15g.50490359C>GCA392398828USP8c.2068C>G (p.Pro690Ala)
c.1750C>G (p.Pro584Ala)
n.485C>G
c.1981C>G (p.Pro661Ala)
c.1396C>G (p.Pro466Ala)
c.1498C>G (p.Pro500Ala)
15g.50490359C>TCA392398830USP8c.2068C>T (p.Pro690Ser)
c.1750C>T (p.Pro584Ser)
n.485C>T
c.1981C>T (p.Pro661Ser)
c.1396C>T (p.Pro466Ser)
c.1498C>T (p.Pro500Ser)
gnomAD v4
15g.50490360C>ACA392398832USP8c.2069C>A (p.Pro690His)
c.1751C>A (p.Pro584His)
n.486C>A
c.1982C>A (p.Pro661His)
c.1397C>A (p.Pro466His)
c.1499C>A (p.Pro500His)
15g.50490360C>GCA392398834USP8c.2069C>G (p.Pro690Arg)
c.1751C>G (p.Pro584Arg)
n.486C>G
c.1982C>G (p.Pro661Arg)
c.1397C>G (p.Pro466Arg)
c.1499C>G (p.Pro500Arg)
15g.50490360C>TCA392398836USP8c.2069C>T (p.Pro690Leu)
c.1751C>T (p.Pro584Leu)
n.486C>T
c.1982C>T (p.Pro661Leu)
c.1397C>T (p.Pro466Leu)
c.1499C>T (p.Pro500Leu)
dbSNP gnomAD v4
15g.50490361T>ACA490561832USP8c.2070T>A (p.Pro690=)
c.1752T>A (p.Pro584=)
n.487T>A
c.1983T>A (p.Pro661=)
c.1398T>A (p.Pro466=)
c.1500T>A (p.Pro500=)
15g.50490361T>CCA490561833USP8c.2070T>C (p.Pro690=)
c.1752T>C (p.Pro584=)
n.487T>C
c.1983T>C (p.Pro661=)
c.1398T>C (p.Pro466=)
c.1500T>C (p.Pro500=)
dbSNP
15g.50490361T>GCA490561831USP8c.2070T>G (p.Pro690=)
c.1752T>G (p.Pro584=)
n.487T>G
c.1983T>G (p.Pro661=)
c.1398T>G (p.Pro466=)
c.1500T>G (p.Pro500=)
15g.50490361T=CA2176424881USP8c.2070T= (p.Pro690=)
c.1752T= (p.Pro584=)
n.487T=
c.1983T= (p.Pro661=)
c.1398T= (p.Pro466=)
c.1500T= (p.Pro500=)
15g.50490362T>ACA392398838USP8c.2071T>A (p.Ser691Thr)
c.1753T>A (p.Ser585Thr)
n.488T>A
c.1984T>A (p.Ser662Thr)
c.1399T>A (p.Ser467Thr)
c.1501T>A (p.Ser501Thr)
15g.50490362T>CCA392398839USP8c.2071T>C (p.Ser691Pro)
c.1753T>C (p.Ser585Pro)
n.488T>C
c.1984T>C (p.Ser662Pro)
c.1399T>C (p.Ser467Pro)
c.1501T>C (p.Ser501Pro)
15g.50490362T>GCA392398841USP8c.2071T>G (p.Ser691Ala)
c.1753T>G (p.Ser585Ala)
n.488T>G
c.1984T>G (p.Ser662Ala)
c.1399T>G (p.Ser467Ala)
c.1501T>G (p.Ser501Ala)
15g.50490363C>ACA392398844USP8c.2072C>A (p.Ser691Tyr)
c.1754C>A (p.Ser585Tyr)
n.489C>A
c.1985C>A (p.Ser662Tyr)
c.1400C>A (p.Ser467Tyr)
c.1502C>A (p.Ser501Tyr)
15g.50490363C>GCA392398843USP8c.2072C>G (p.Ser691Cys)
c.1754C>G (p.Ser585Cys)
n.489C>G
c.1985C>G (p.Ser662Cys)
c.1400C>G (p.Ser467Cys)
c.1502C>G (p.Ser501Cys)
15g.50490363C>TCA392398842USP8c.2072C>T (p.Ser691Phe)
c.1754C>T (p.Ser585Phe)
n.489C>T
c.1985C>T (p.Ser662Phe)
c.1400C>T (p.Ser467Phe)
c.1502C>T (p.Ser501Phe)
dbSNP
15g.50490364C>ACA490561834USP8c.2073C>A (p.Ser691=)
c.1755C>A (p.Ser585=)
n.490C>A
c.1986C>A (p.Ser662=)
c.1401C>A (p.Ser467=)
c.1503C>A (p.Ser501=)
15g.50490364C=CA2176424882USP8c.2073C= (p.Ser691=)
c.1755C= (p.Ser585=)
n.490C=
c.1986C= (p.Ser662=)
c.1401C= (p.Ser467=)
c.1503C= (p.Ser501=)
15g.50490364C>GCA490561835USP8c.2073C>G (p.Ser691=)
c.1755C>G (p.Ser585=)
n.490C>G
c.1986C>G (p.Ser662=)
c.1401C>G (p.Ser467=)
c.1503C>G (p.Ser501=)
15g.50490364C>TCA7555888USP8c.2073C>T (p.Ser691=)
c.1755C>T (p.Ser585=)
n.490C>T
c.1986C>T (p.Ser662=)
c.1401C>T (p.Ser467=)
c.1503C>T (p.Ser501=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490365A=CA2176424883USP8c.2074A= (p.Thr692=)
c.1756A= (p.Thr586=)
n.491A=
c.1987A= (p.Thr663=)
c.1402A= (p.Thr468=)
c.1504A= (p.Thr502=)
15g.50490365A>CCA270503382USP8c.2074A>C (p.Thr692Pro)
c.1756A>C (p.Thr586Pro)
n.491A>C
c.1987A>C (p.Thr663Pro)
c.1402A>C (p.Thr468Pro)
c.1504A>C (p.Thr502Pro)
dbSNP
15g.50490365A>GCA392398847USP8c.2074A>G (p.Thr692Ala)
c.1756A>G (p.Thr586Ala)
n.491A>G
c.1987A>G (p.Thr663Ala)
c.1402A>G (p.Thr468Ala)
c.1504A>G (p.Thr502Ala)
15g.50490365A>TCA392398848USP8c.2074A>T (p.Thr692Ser)
c.1756A>T (p.Thr586Ser)
n.491A>T
c.1987A>T (p.Thr663Ser)
c.1402A>T (p.Thr468Ser)
c.1504A>T (p.Thr502Ser)
15g.50490366C>ACA392398851USP8c.2075C>A (p.Thr692Asn)
c.1757C>A (p.Thr586Asn)
n.492C>A
c.1988C>A (p.Thr663Asn)
c.1403C>A (p.Thr468Asn)
c.1505C>A (p.Thr502Asn)
15g.50490366C=CA2176424884USP8c.2075C= (p.Thr692=)
c.1757C= (p.Thr586=)
n.492C=
c.1988C= (p.Thr663=)
c.1403C= (p.Thr468=)
c.1505C= (p.Thr502=)
15g.50490366C>GCA7555890USP8c.2075C>G (p.Thr692Ser)
c.1757C>G (p.Thr586Ser)
n.492C>G
c.1988C>G (p.Thr663Ser)
c.1403C>G (p.Thr468Ser)
c.1505C>G (p.Thr502Ser)
dbSNP ExAC gnomAD v2
15g.50490366C>TCA7555889USP8c.2075C>T (p.Thr692Ile)
c.1757C>T (p.Thr586Ile)
n.492C>T
c.1988C>T (p.Thr663Ile)
c.1403C>T (p.Thr468Ile)
c.1505C>T (p.Thr502Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490367C>ACA490561837USP8c.2076C>A (p.Thr692=)
c.1758C>A (p.Thr586=)
n.493C>A
c.1989C>A (p.Thr663=)
c.1404C>A (p.Thr468=)
c.1506C>A (p.Thr502=)
15g.50490367C=CA2176424885USP8c.2076C= (p.Thr692=)
c.1758C= (p.Thr586=)
n.493C=
c.1989C= (p.Thr663=)
c.1404C= (p.Thr468=)
c.1506C= (p.Thr502=)
15g.50490367C>GCA7555891USP8c.2076C>G (p.Thr692=)
c.1758C>G (p.Thr586=)
n.493C>G
c.1989C>G (p.Thr663=)
c.1404C>G (p.Thr468=)
c.1506C>G (p.Thr502=)
dbSNP ExAC gnomAD v2
15g.50490367C>TCA490561836USP8c.2076C>T (p.Thr692=)
c.1758C>T (p.Thr586=)
n.493C>T
c.1989C>T (p.Thr663=)
c.1404C>T (p.Thr468=)
c.1506C>T (p.Thr502=)
gnomAD v4
15g.50490368C>ACA392398854USP8c.2077C>A (p.Pro693Thr)
c.1759C>A (p.Pro587Thr)
n.494C>A
c.1990C>A (p.Pro664Thr)
c.1405C>A (p.Pro469Thr)
c.1507C>A (p.Pro503Thr)
dbSNP
15g.50490368C=CA2176424886USP8c.2077C= (p.Pro693=)
c.1759C= (p.Pro587=)
n.494C=
c.1990C= (p.Pro664=)
c.1405C= (p.Pro469=)
c.1507C= (p.Pro503=)
15g.50490368C>GCA392398856USP8c.2077C>G (p.Pro693Ala)
c.1759C>G (p.Pro587Ala)
n.494C>G
c.1990C>G (p.Pro664Ala)
c.1405C>G (p.Pro469Ala)
c.1507C>G (p.Pro503Ala)
15g.50490368C>TCA392398858USP8c.2077C>T (p.Pro693Ser)
c.1759C>T (p.Pro587Ser)
n.494C>T
c.1990C>T (p.Pro664Ser)
c.1405C>T (p.Pro469Ser)
c.1507C>T (p.Pro503Ser)
dbSNP
15g.50490369C>ACA392398860USP8c.2078C>A (p.Pro693His)
c.1760C>A (p.Pro587His)
n.495C>A
c.1991C>A (p.Pro664His)
c.1406C>A (p.Pro469His)
c.1508C>A (p.Pro503His)
15g.50490369C>GCA392398862USP8c.2078C>G (p.Pro693Arg)
c.1760C>G (p.Pro587Arg)
n.495C>G
c.1991C>G (p.Pro664Arg)
c.1406C>G (p.Pro469Arg)
c.1508C>G (p.Pro503Arg)
15g.50490369C>TCA392398863USP8c.2078C>T (p.Pro693Leu)
c.1760C>T (p.Pro587Leu)
n.495C>T
c.1991C>T (p.Pro664Leu)
c.1406C>T (p.Pro469Leu)
c.1508C>T (p.Pro503Leu)
15g.50490370T>ACA490561838USP8c.2079T>A (p.Pro693=)
c.1761T>A (p.Pro587=)
n.496T>A
c.1992T>A (p.Pro664=)
c.1407T>A (p.Pro469=)
c.1509T>A (p.Pro503=)
15g.50490370T>CCA490561839USP8c.2079T>C (p.Pro693=)
c.1761T>C (p.Pro587=)
n.496T>C
c.1992T>C (p.Pro664=)
c.1407T>C (p.Pro469=)
c.1509T>C (p.Pro503=)
dbSNP
15g.50490370T>GCA490561840USP8c.2079T>G (p.Pro693=)
c.1761T>G (p.Pro587=)
n.496T>G
c.1992T>G (p.Pro664=)
c.1407T>G (p.Pro469=)
c.1509T>G (p.Pro503=)
15g.50490370T=CA2176424887USP8c.2079T= (p.Pro693=)
c.1761T= (p.Pro587=)
n.496T=
c.1992T= (p.Pro664=)
c.1407T= (p.Pro469=)
c.1509T= (p.Pro503=)
15g.50490371C>ACA270503387USP8c.2080C>A (p.Pro694Thr)
c.1762C>A (p.Pro588Thr)
n.497C>A
c.1993C>A (p.Pro665Thr)
c.1408C>A (p.Pro470Thr)
c.1510C>A (p.Pro504Thr)
dbSNP
15g.50490371C=CA2176424888USP8c.2080C= (p.Pro694=)
c.1762C= (p.Pro588=)
n.497C=
c.1993C= (p.Pro665=)
c.1408C= (p.Pro470=)
c.1510C= (p.Pro504=)
15g.50490371C>GCA392398875USP8c.2080C>G (p.Pro694Ala)
c.1762C>G (p.Pro588Ala)
n.497C>G
c.1993C>G (p.Pro665Ala)
c.1408C>G (p.Pro470Ala)
c.1510C>G (p.Pro504Ala)
15g.50490371C>TCA392398866USP8c.2080C>T (p.Pro694Ser)
c.1762C>T (p.Pro588Ser)
n.497C>T
c.1993C>T (p.Pro665Ser)
c.1408C>T (p.Pro470Ser)
c.1510C>T (p.Pro504Ser)
15g.50490372C>ACA392398877USP8c.2081C>A (p.Pro694Gln)
c.1763C>A (p.Pro588Gln)
n.498C>A
c.1994C>A (p.Pro665Gln)
c.1409C>A (p.Pro470Gln)
c.1511C>A (p.Pro504Gln)
15g.50490372C=CA2176424889USP8c.2081C= (p.Pro694=)
c.1763C= (p.Pro588=)
n.498C=
c.1994C= (p.Pro665=)
c.1409C= (p.Pro470=)
c.1511C= (p.Pro504=)
15g.50490372C>GCA392398881USP8c.2081C>G (p.Pro694Arg)
c.1763C>G (p.Pro588Arg)
n.498C>G
c.1994C>G (p.Pro665Arg)
c.1409C>G (p.Pro470Arg)
c.1511C>G (p.Pro504Arg)
15g.50490372C>TCA392398879USP8c.2081C>T (p.Pro694Leu)
c.1763C>T (p.Pro588Leu)
n.498C>T
c.1994C>T (p.Pro665Leu)
c.1409C>T (p.Pro470Leu)
c.1511C>T (p.Pro504Leu)
dbSNP gnomAD v2 gnomAD v4
15g.50490373A>CCA490561843USP8c.2082A>C (p.Pro694=)
c.1764A>C (p.Pro588=)
n.499A>C
c.1995A>C (p.Pro665=)
c.1410A>C (p.Pro470=)
c.1512A>C (p.Pro504=)
15g.50490373A>GCA490561841USP8c.2082A>G (p.Pro694=)
c.1764A>G (p.Pro588=)
n.499A>G
c.1995A>G (p.Pro665=)
c.1410A>G (p.Pro470=)
c.1512A>G (p.Pro504=)
15g.50490373A>TCA490561842USP8c.2082A>T (p.Pro694=)
c.1764A>T (p.Pro588=)
n.499A>T
c.1995A>T (p.Pro665=)
c.1410A>T (p.Pro470=)
c.1512A>T (p.Pro504=)
dbSNP
15g.50490374A>CCA392398883USP8c.2083A>C (p.Thr695Pro)
c.1765A>C (p.Thr589Pro)
n.500A>C
c.1996A>C (p.Thr666Pro)
c.1411A>C (p.Thr471Pro)
c.1513A>C (p.Thr505Pro)
gnomAD v4
15g.50490374A>GCA392398885USP8c.2083A>G (p.Thr695Ala)
c.1765A>G (p.Thr589Ala)
n.500A>G
c.1996A>G (p.Thr666Ala)
c.1411A>G (p.Thr471Ala)
c.1513A>G (p.Thr505Ala)
gnomAD v4
15g.50490374A>TCA392398887USP8c.2083A>T (p.Thr695Ser)
c.1765A>T (p.Thr589Ser)
n.500A>T
c.1996A>T (p.Thr666Ser)
c.1411A>T (p.Thr471Ser)
c.1513A>T (p.Thr505Ser)
15g.50490375C>ACA392398889USP8c.2084C>A (p.Thr695Asn)
c.1766C>A (p.Thr589Asn)
n.501C>A
c.1997C>A (p.Thr666Asn)
c.1412C>A (p.Thr471Asn)
c.1514C>A (p.Thr505Asn)
dbSNP
15g.50490375C>GCA392398891USP8c.2084C>G (p.Thr695Ser)
c.1766C>G (p.Thr589Ser)
n.501C>G
c.1997C>G (p.Thr666Ser)
c.1412C>G (p.Thr471Ser)
c.1514C>G (p.Thr505Ser)
15g.50490375C>TCA392398893USP8c.2084C>T (p.Thr695Ile)
c.1766C>T (p.Thr589Ile)
n.501C>T
c.1997C>T (p.Thr666Ile)
c.1412C>T (p.Thr471Ile)
c.1514C>T (p.Thr505Ile)
gnomAD v4
15g.50490376T>ACA490561844USP8c.2085T>A (p.Thr695=)
c.1767T>A (p.Thr589=)
n.502T>A
c.1998T>A (p.Thr666=)
c.1413T>A (p.Thr471=)
c.1515T>A (p.Thr505=)
15g.50490376T>CCA490561845USP8c.2085T>C (p.Thr695=)
c.1767T>C (p.Thr589=)
n.502T>C
c.1998T>C (p.Thr666=)
c.1413T>C (p.Thr471=)
c.1515T>C (p.Thr505=)
15g.50490376T>GCA490561846USP8c.2085T>G (p.Thr695=)
c.1767T>G (p.Thr589=)
n.502T>G
c.1998T>G (p.Thr666=)
c.1413T>G (p.Thr471=)
c.1515T>G (p.Thr505=)
15g.50490377C>ACA392398895USP8c.2086C>A (p.His696Asn)
c.1768C>A (p.His590Asn)
n.503C>A
c.1999C>A (p.His667Asn)
c.1414C>A (p.His472Asn)
c.1516C>A (p.His506Asn)
15g.50490377C>GCA392398896USP8c.2086C>G (p.His696Asp)
c.1768C>G (p.His590Asp)
n.503C>G
c.1999C>G (p.His667Asp)
c.1414C>G (p.His472Asp)
c.1516C>G (p.His506Asp)
15g.50490377C>TCA392398897USP8c.2086C>T (p.His696Tyr)
c.1768C>T (p.His590Tyr)
n.503C>T
c.1999C>T (p.His667Tyr)
c.1414C>T (p.His472Tyr)
c.1516C>T (p.His506Tyr)
15g.50490378A=CA2176424890USP8c.2087A= (p.His696=)
c.1769A= (p.His590=)
n.504A=
c.2000A= (p.His667=)
c.1415A= (p.His472=)
c.1517A= (p.His506=)
15g.50490378A>CCA392398899USP8c.2087A>C (p.His696Pro)
c.1769A>C (p.His590Pro)
n.504A>C
c.2000A>C (p.His667Pro)
c.1415A>C (p.His472Pro)
c.1517A>C (p.His506Pro)
gnomAD v4 COSMIC
15g.50490378A>GCA270503389USP8c.2087A>G (p.His696Arg)
c.1769A>G (p.His590Arg)
n.504A>G
c.2000A>G (p.His667Arg)
c.1415A>G (p.His472Arg)
c.1517A>G (p.His506Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.50490378A>TCA392398902USP8c.2087A>T (p.His696Leu)
c.1769A>T (p.His590Leu)
n.504A>T
c.2000A>T (p.His667Leu)
c.1415A>T (p.His472Leu)
c.1517A>T (p.His506Leu)
gnomAD v4
15g.50490379T>ACA270503393USP8c.2088T>A (p.His696Gln)
c.1770T>A (p.His590Gln)
n.505T>A
c.2001T>A (p.His667Gln)
c.1416T>A (p.His472Gln)
c.1518T>A (p.His506Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.50490379T>CCA490561847USP8c.2088T>C (p.His696=)
c.1770T>C (p.His590=)
n.505T>C
c.2001T>C (p.His667=)
c.1416T>C (p.His472=)
c.1518T>C (p.His506=)
15g.50490379T>GCA392398903USP8c.2088T>G (p.His696Gln)
c.1770T>G (p.His590Gln)
n.505T>G
c.2001T>G (p.His667Gln)
c.1416T>G (p.His472Gln)
c.1518T>G (p.His506Gln)
15g.50490379T=CA2176424891USP8c.2088T= (p.His696=)
c.1770T= (p.His590=)
n.505T=
c.2001T= (p.His667=)
c.1416T= (p.His472=)
c.1518T= (p.His506=)
15g.50490380A=CA2176424892USP8c.2089A= (p.Lys697=)
c.1771A= (p.Lys591=)
n.506A=
c.2002A= (p.Lys668=)
c.1417A= (p.Lys473=)
c.1519A= (p.Lys507=)
15g.50490380A>CCA392398906USP8c.2089A>C (p.Lys697Gln)
c.1771A>C (p.Lys591Gln)
n.506A>C
c.2002A>C (p.Lys668Gln)
c.1417A>C (p.Lys473Gln)
c.1519A>C (p.Lys507Gln)
15g.50490380A>GCA392398907USP8c.2089A>G (p.Lys697Glu)
c.1771A>G (p.Lys591Glu)
n.506A>G
c.2002A>G (p.Lys668Glu)
c.1417A>G (p.Lys473Glu)
c.1519A>G (p.Lys507Glu)
dbSNP gnomAD v2 gnomAD v4
15g.50490380A>TCA392398909USP8c.2089A>T (p.Lys697Ter)
c.1771A>T (p.Lys591Ter)
n.506A>T
c.2002A>T (p.Lys668Ter)
c.1417A>T (p.Lys473Ter)
c.1519A>T (p.Lys507Ter)
15g.50490381A>CCA392398911USP8c.2090A>C (p.Lys697Thr)
c.1772A>C (p.Lys591Thr)
n.507A>C
c.2003A>C (p.Lys668Thr)
c.1418A>C (p.Lys473Thr)
c.1520A>C (p.Lys507Thr)
15g.50490381A>GCA392398918USP8c.2090A>G (p.Lys697Arg)
c.1772A>G (p.Lys591Arg)
n.507A>G
c.2003A>G (p.Lys668Arg)
c.1418A>G (p.Lys473Arg)
c.1520A>G (p.Lys507Arg)
15g.50490381A>TCA392398920USP8c.2090A>T (p.Lys697Ile)
c.1772A>T (p.Lys591Ile)
n.507A>T
c.2003A>T (p.Lys668Ile)
c.1418A>T (p.Lys473Ile)
c.1520A>T (p.Lys507Ile)
15g.50490382A>CCA392398922USP8c.2091A>C (p.Lys697Asn)
c.1773A>C (p.Lys591Asn)
n.508A>C
c.2004A>C (p.Lys668Asn)
c.1419A>C (p.Lys473Asn)
c.1521A>C (p.Lys507Asn)
15g.50490382A>GCA490561848USP8c.2091A>G (p.Lys697=)
c.1773A>G (p.Lys591=)
n.508A>G
c.2004A>G (p.Lys668=)
c.1419A>G (p.Lys473=)
c.1521A>G (p.Lys507=)
15g.50490382A>TCA392398924USP8c.2091A>T (p.Lys697Asn)
c.1773A>T (p.Lys591Asn)
n.508A>T
c.2004A>T (p.Lys668Asn)
c.1419A>T (p.Lys473Asn)
c.1521A>T (p.Lys507Asn)
15g.50490383G>ACA392398926USP8c.2092G>A (p.Ala698Thr)
c.1774G>A (p.Ala592Thr)
n.509G>A
c.2005G>A (p.Ala669Thr)
c.1420G>A (p.Ala474Thr)
c.1522G>A (p.Ala508Thr)
15g.50490383G>CCA392398928USP8c.2092G>C (p.Ala698Pro)
c.1774G>C (p.Ala592Pro)
n.509G>C
c.2005G>C (p.Ala669Pro)
c.1420G>C (p.Ala474Pro)
c.1522G>C (p.Ala508Pro)
15g.50490383G=CA2176424893USP8c.2092G= (p.Ala698=)
c.1774G= (p.Ala592=)
n.509G=
c.2005G= (p.Ala669=)
c.1420G= (p.Ala474=)
c.1522G= (p.Ala508=)
15g.50490383G>TCA392398930USP8c.2092G>T (p.Ala698Ser)
c.1774G>T (p.Ala592Ser)
n.509G>T
c.2005G>T (p.Ala669Ser)
c.1420G>T (p.Ala474Ser)
c.1522G>T (p.Ala508Ser)
dbSNP gnomAD v3 gnomAD v4
15g.50490384C>ACA392398937USP8c.2093C>A (p.Ala698Asp)
c.1775C>A (p.Ala592Asp)
n.510C>A
c.2006C>A (p.Ala669Asp)
c.1421C>A (p.Ala474Asp)
c.1523C>A (p.Ala508Asp)
15g.50490384C>GCA392398938USP8c.2093C>G (p.Ala698Gly)
c.1775C>G (p.Ala592Gly)
n.510C>G
c.2006C>G (p.Ala669Gly)
c.1421C>G (p.Ala474Gly)
c.1523C>G (p.Ala508Gly)
15g.50490384C>TCA392398935USP8c.2093C>T (p.Ala698Val)
c.1775C>T (p.Ala592Val)
n.510C>T
c.2006C>T (p.Ala669Val)
c.1421C>T (p.Ala474Val)
c.1523C>T (p.Ala508Val)
15g.50490385C>ACA490561849USP8c.2094C>A (p.Ala698=)
c.1776C>A (p.Ala592=)
n.511C>A
c.2007C>A (p.Ala669=)
c.1422C>A (p.Ala474=)
c.1524C>A (p.Ala508=)
15g.50490385C>GCA490561850USP8c.2094C>G (p.Ala698=)
c.1776C>G (p.Ala592=)
n.511C>G
c.2007C>G (p.Ala669=)
c.1422C>G (p.Ala474=)
c.1524C>G (p.Ala508=)
15g.50490385C>TCA490561851USP8c.2094C>T (p.Ala698=)
c.1776C>T (p.Ala592=)
n.511C>T
c.2007C>T (p.Ala669=)
c.1422C>T (p.Ala474=)
c.1524C>T (p.Ala508=)
15g.50490386A>CCA392398939USP8c.2095A>C (p.Lys699Gln)
c.1777A>C (p.Lys593Gln)
n.512A>C
c.2008A>C (p.Lys670Gln)
c.1423A>C (p.Lys475Gln)
c.1525A>C (p.Lys509Gln)
15g.50490386A>GCA392398940USP8c.2095A>G (p.Lys699Glu)
c.1777A>G (p.Lys593Glu)
n.512A>G
c.2008A>G (p.Lys670Glu)
c.1423A>G (p.Lys475Glu)
c.1525A>G (p.Lys509Glu)
15g.50490386A>TCA392398942USP8c.2095A>T (p.Lys699Ter)
c.1777A>T (p.Lys593Ter)
n.512A>T
c.2008A>T (p.Lys670Ter)
c.1423A>T (p.Lys475Ter)
c.1525A>T (p.Lys509Ter)
15g.50490387A>CCA392398944USP8c.2096A>C (p.Lys699Thr)
c.1778A>C (p.Lys593Thr)
n.513A>C
c.2009A>C (p.Lys670Thr)
c.1424A>C (p.Lys475Thr)
c.1526A>C (p.Lys509Thr)
15g.50490387A>GCA392398946USP8c.2096A>G (p.Lys699Arg)
c.1778A>G (p.Lys593Arg)
n.513A>G
c.2009A>G (p.Lys670Arg)
c.1424A>G (p.Lys475Arg)
c.1526A>G (p.Lys509Arg)
15g.50490387A>TCA392398947USP8c.2096A>T (p.Lys699Met)
c.1778A>T (p.Lys593Met)
n.513A>T
c.2009A>T (p.Lys670Met)
c.1424A>T (p.Lys475Met)
c.1526A>T (p.Lys509Met)
15g.50490388G>ACA270503403USP8c.2097G>A (p.Lys699=)
c.1779G>A (p.Lys593=)
n.514G>A
c.2010G>A (p.Lys670=)
c.1425G>A (p.Lys475=)
c.1527G>A (p.Lys509=)
dbSNP
15g.50490388G>CCA392398952USP8c.2097G>C (p.Lys699Asn)
c.1779G>C (p.Lys593Asn)
n.514G>C
c.2010G>C (p.Lys670Asn)
c.1425G>C (p.Lys475Asn)
c.1527G>C (p.Lys509Asn)
dbSNP COSMIC
15g.50490388G=CA2176424894USP8c.2097G= (p.Lys699=)
c.1779G= (p.Lys593=)
n.514G=
c.2010G= (p.Lys670=)
c.1425G= (p.Lys475=)
c.1527G= (p.Lys509=)
15g.50490388G>TCA392398950USP8c.2097G>T (p.Lys699Asn)
c.1779G>T (p.Lys593Asn)
n.514G>T
c.2010G>T (p.Lys670Asn)
c.1425G>T (p.Lys475Asn)
c.1527G>T (p.Lys509Asn)
15g.50490389C>ACA392398953USP8c.2098C>A (p.Pro700Thr)
c.1780C>A (p.Pro594Thr)
n.515C>A
c.2011C>A (p.Pro671Thr)
c.1426C>A (p.Pro476Thr)
c.1528C>A (p.Pro510Thr)
dbSNP
15g.50490389C>GCA392398955USP8c.2098C>G (p.Pro700Ala)
c.1780C>G (p.Pro594Ala)
n.515C>G
c.2011C>G (p.Pro671Ala)
c.1426C>G (p.Pro476Ala)
c.1528C>G (p.Pro510Ala)
15g.50490389C>TCA392398957USP8c.2098C>T (p.Pro700Ser)
c.1780C>T (p.Pro594Ser)
n.515C>T
c.2011C>T (p.Pro671Ser)
c.1426C>T (p.Pro476Ser)
c.1528C>T (p.Pro510Ser)
dbSNP
15g.50490390C>ACA392398959USP8c.2099C>A (p.Pro700Gln)
c.1781C>A (p.Pro594Gln)
n.516C>A
c.2012C>A (p.Pro671Gln)
c.1427C>A (p.Pro476Gln)
c.1529C>A (p.Pro510Gln)
15g.50490390C>GCA392398961USP8c.2099C>G (p.Pro700Arg)
c.1781C>G (p.Pro594Arg)
n.516C>G
c.2012C>G (p.Pro671Arg)
c.1427C>G (p.Pro476Arg)
c.1529C>G (p.Pro510Arg)
15g.50490390C>TCA392398963USP8c.2099C>T (p.Pro700Leu)
c.1781C>T (p.Pro594Leu)
n.516C>T
c.2012C>T (p.Pro671Leu)
c.1427C>T (p.Pro476Leu)
c.1529C>T (p.Pro510Leu)
15g.50490391A=CA2176424895USP8c.2100A= (p.Pro700=)
c.1782A= (p.Pro594=)
n.517A=
c.2013A= (p.Pro671=)
c.1428A= (p.Pro476=)
c.1530A= (p.Pro510=)
15g.50490391A>CCA490561852USP8c.2100A>C (p.Pro700=)
c.1782A>C (p.Pro594=)
n.517A>C
c.2013A>C (p.Pro671=)
c.1428A>C (p.Pro476=)
c.1530A>C (p.Pro510=)
15g.50490391A>GCA490561853USP8c.2100A>G (p.Pro700=)
c.1782A>G (p.Pro594=)
n.517A>G
c.2013A>G (p.Pro671=)
c.1428A>G (p.Pro476=)
c.1530A>G (p.Pro510=)
15g.50490391A>TCA490561854USP8c.2100A>T (p.Pro700=)
c.1782A>T (p.Pro594=)
n.517A>T
c.2013A>T (p.Pro671=)
c.1428A>T (p.Pro476=)
c.1530A>T (p.Pro510=)
15g.50490391_50490392insACTCA2176424896USP8c.2100_2101insACT (p.Pro700_Gln701insThr)
c.1782_1783insACT (p.Pro594_Gln595insThr)
n.517_518insACT
c.2013_2014insACT (p.Pro671_Gln672insThr)
c.1428_1429insACT (p.Pro476_Gln477insThr)
c.1530_1531insACT (p.Pro510_Gln511insThr)
dbSNP
15g.50490392C>ACA392398964USP8c.2101C>A (p.Gln701Lys)
c.1783C>A (p.Gln595Lys)
n.518C>A
c.2014C>A (p.Gln672Lys)
c.1429C>A (p.Gln477Lys)
c.1531C>A (p.Gln511Lys)
15g.50490392C>GCA392398968USP8c.2101C>G (p.Gln701Glu)
c.1783C>G (p.Gln595Glu)
n.518C>G
c.2014C>G (p.Gln672Glu)
c.1429C>G (p.Gln477Glu)
c.1531C>G (p.Gln511Glu)
15g.50490392C>TCA392398966USP8c.2101C>T (p.Gln701Ter)
c.1783C>T (p.Gln595Ter)
n.518C>T
c.2014C>T (p.Gln672Ter)
c.1429C>T (p.Gln477Ter)
c.1531C>T (p.Gln511Ter)
15g.50490393A>CCA392398970USP8c.2102A>C (p.Gln701Pro)
c.1784A>C (p.Gln595Pro)
n.519A>C
c.2015A>C (p.Gln672Pro)
c.1430A>C (p.Gln477Pro)
c.1532A>C (p.Gln511Pro)
15g.50490393A>GCA392398971USP8c.2102A>G (p.Gln701Arg)
c.1784A>G (p.Gln595Arg)
n.519A>G
c.2015A>G (p.Gln672Arg)
c.1430A>G (p.Gln477Arg)
c.1532A>G (p.Gln511Arg)
dbSNP
15g.50490393A>TCA392398972USP8c.2102A>T (p.Gln701Leu)
c.1784A>T (p.Gln595Leu)
n.519A>T
c.2015A>T (p.Gln672Leu)
c.1430A>T (p.Gln477Leu)
c.1532A>T (p.Gln511Leu)
15g.50490394G>ACA490561855USP8c.2103G>A (p.Gln701=)
c.1785G>A (p.Gln595=)
n.520G>A
c.2016G>A (p.Gln672=)
c.1431G>A (p.Gln477=)
c.1533G>A (p.Gln511=)
15g.50490394G>CCA392398974USP8c.2103G>C (p.Gln701His)
c.1785G>C (p.Gln595His)
n.520G>C
c.2016G>C (p.Gln672His)
c.1431G>C (p.Gln477His)
c.1533G>C (p.Gln511His)
15g.50490394G>TCA392398976USP8c.2103G>T (p.Gln701His)
c.1785G>T (p.Gln595His)
n.520G>T
c.2016G>T (p.Gln672His)
c.1431G>T (p.Gln477His)
c.1533G>T (p.Gln511His)
15g.50490395A=CA2176424897USP8c.2104A= (p.Ile702=)
c.1786A= (p.Ile596=)
n.521A=
c.2017A= (p.Ile673=)
c.1432A= (p.Ile478=)
c.1534A= (p.Ile512=)
15g.50490395A>CCA392398978USP8c.2104A>C (p.Ile702Leu)
c.1786A>C (p.Ile596Leu)
n.521A>C
c.2017A>C (p.Ile673Leu)
c.1432A>C (p.Ile478Leu)
c.1534A>C (p.Ile512Leu)
15g.50490395A>GCA7555892USP8c.2104A>G (p.Ile702Val)
c.1786A>G (p.Ile596Val)
n.521A>G
c.2017A>G (p.Ile673Val)
c.1432A>G (p.Ile478Val)
c.1534A>G (p.Ile512Val)
dbSNP ExAC
15g.50490395A>TCA392398980USP8c.2104A>T (p.Ile702Phe)
c.1786A>T (p.Ile596Phe)
n.521A>T
c.2017A>T (p.Ile673Phe)
c.1432A>T (p.Ile478Phe)
c.1534A>T (p.Ile512Phe)
15g.50490396T>ACA392398982USP8c.2105T>A (p.Ile702Asn)
c.1787T>A (p.Ile596Asn)
n.522T>A
c.2018T>A (p.Ile673Asn)
c.1433T>A (p.Ile478Asn)
c.1535T>A (p.Ile512Asn)
15g.50490396T>CCA392398983USP8c.2105T>C (p.Ile702Thr)
c.1787T>C (p.Ile596Thr)
n.522T>C
c.2018T>C (p.Ile673Thr)
c.1433T>C (p.Ile478Thr)
c.1535T>C (p.Ile512Thr)
15g.50490396T>GCA392398984USP8c.2105T>G (p.Ile702Ser)
c.1787T>G (p.Ile596Ser)
n.522T>G
c.2018T>G (p.Ile673Ser)
c.1433T>G (p.Ile478Ser)
c.1535T>G (p.Ile512Ser)
15g.50490397T>ACA490561856USP8c.2106T>A (p.Ile702=)
c.1788T>A (p.Ile596=)
n.523T>A
c.2019T>A (p.Ile673=)
c.1434T>A (p.Ile478=)
c.1536T>A (p.Ile512=)
15g.50490397T>CCA490561857USP8c.2106T>C (p.Ile702=)
c.1788T>C (p.Ile596=)
n.523T>C
c.2019T>C (p.Ile673=)
c.1434T>C (p.Ile478=)
c.1536T>C (p.Ile512=)
gnomAD v4
15g.50490397T>GCA392398985USP8c.2106T>G (p.Ile702Met)
c.1788T>G (p.Ile596Met)
n.523T>G
c.2019T>G (p.Ile673Met)
c.1434T>G (p.Ile478Met)
c.1536T>G (p.Ile512Met)
15g.50490398C>ACA392398988USP8c.2107C>A (p.Pro703Thr)
c.1789C>A (p.Pro597Thr)
n.524C>A
c.2020C>A (p.Pro674Thr)
c.1435C>A (p.Pro479Thr)
c.1537C>A (p.Pro513Thr)
gnomAD v4
15g.50490398C>GCA392398990USP8c.2107C>G (p.Pro703Ala)
c.1789C>G (p.Pro597Ala)
n.524C>G
c.2020C>G (p.Pro674Ala)
c.1435C>G (p.Pro479Ala)
c.1537C>G (p.Pro513Ala)
15g.50490398C>TCA392398989USP8c.2107C>T (p.Pro703Ser)
c.1789C>T (p.Pro597Ser)
n.524C>T
c.2020C>T (p.Pro674Ser)
c.1435C>T (p.Pro479Ser)
c.1537C>T (p.Pro513Ser)
COSMIC
15g.50490399C>ACA7555893USP8c.2108C>A (p.Pro703His)
c.1790C>A (p.Pro597His)
n.525C>A
c.2021C>A (p.Pro674His)
c.1436C>A (p.Pro479His)
c.1538C>A (p.Pro513His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490399C=CA2176424898USP8c.2108C= (p.Pro703=)
c.1790C= (p.Pro597=)
n.525C=
c.2021C= (p.Pro674=)
c.1436C= (p.Pro479=)
c.1538C= (p.Pro513=)
15g.50490399C>GCA392398995USP8c.2108C>G (p.Pro703Arg)
c.1790C>G (p.Pro597Arg)
n.525C>G
c.2021C>G (p.Pro674Arg)
c.1436C>G (p.Pro479Arg)
c.1538C>G (p.Pro513Arg)
15g.50490399C>TCA392398993USP8c.2108C>T (p.Pro703Leu)
c.1790C>T (p.Pro597Leu)
n.525C>T
c.2021C>T (p.Pro674Leu)
c.1436C>T (p.Pro479Leu)
c.1538C>T (p.Pro513Leu)
15g.50490400T>ACA490561858USP8c.2109T>A (p.Pro703=)
c.1791T>A (p.Pro597=)
n.526T>A
c.2022T>A (p.Pro674=)
c.1437T>A (p.Pro479=)
c.1539T>A (p.Pro513=)
dbSNP gnomAD v3 gnomAD v4
15g.50490400T>CCA490561859USP8c.2109T>C (p.Pro703=)
c.1791T>C (p.Pro597=)
n.526T>C
c.2022T>C (p.Pro674=)
c.1437T>C (p.Pro479=)
c.1539T>C (p.Pro513=)
15g.50490400T>GCA490561860USP8c.2109T>G (p.Pro703=)
c.1791T>G (p.Pro597=)
n.526T>G
c.2022T>G (p.Pro674=)
c.1437T>G (p.Pro479=)
c.1539T>G (p.Pro513=)
15g.50490400T=CA2176424899USP8c.2109T= (p.Pro703=)
c.1791T= (p.Pro597=)
n.526T=
c.2022T= (p.Pro674=)
c.1437T= (p.Pro479=)
c.1539T= (p.Pro513=)
15g.50490401G>ACA392398997USP8c.2110G>A (p.Ala704Thr)
c.1792G>A (p.Ala598Thr)
n.527G>A
c.2023G>A (p.Ala675Thr)
c.1438G>A (p.Ala480Thr)
c.1540G>A (p.Ala514Thr)
15g.50490401G>CCA392399001USP8c.2110G>C (p.Ala704Pro)
c.1792G>C (p.Ala598Pro)
n.527G>C
c.2023G>C (p.Ala675Pro)
c.1438G>C (p.Ala480Pro)
c.1540G>C (p.Ala514Pro)
15g.50490401G>TCA392398999USP8c.2110G>T (p.Ala704Ser)
c.1792G>T (p.Ala598Ser)
n.527G>T
c.2023G>T (p.Ala675Ser)
c.1438G>T (p.Ala480Ser)
c.1540G>T (p.Ala514Ser)
15g.50490402C>ACA392399003USP8c.2111C>A (p.Ala704Asp)
c.1793C>A (p.Ala598Asp)
n.528C>A
c.2024C>A (p.Ala675Asp)
c.1439C>A (p.Ala480Asp)
c.1541C>A (p.Ala514Asp)
15g.50490402C>GCA392399004USP8c.2111C>G (p.Ala704Gly)
c.1793C>G (p.Ala598Gly)
n.528C>G
c.2024C>G (p.Ala675Gly)
c.1439C>G (p.Ala480Gly)
c.1541C>G (p.Ala514Gly)
15g.50490402C>TCA392399006USP8c.2111C>T (p.Ala704Val)
c.1793C>T (p.Ala598Val)
n.528C>T
c.2024C>T (p.Ala675Val)
c.1439C>T (p.Ala480Val)
c.1541C>T (p.Ala514Val)
dbSNP
15g.50490403T>ACA490561861USP8c.2112T>A (p.Ala704=)
c.1794T>A (p.Ala598=)
n.529T>A
c.2025T>A (p.Ala675=)
c.1440T>A (p.Ala480=)
c.1542T>A (p.Ala514=)
15g.50490403T>CCA490561862USP8c.2112T>C (p.Ala704=)
c.1794T>C (p.Ala598=)
n.529T>C
c.2025T>C (p.Ala675=)
c.1440T>C (p.Ala480=)
c.1542T>C (p.Ala514=)
15g.50490403T>GCA490561863USP8c.2112T>G (p.Ala704=)
c.1794T>G (p.Ala598=)
n.529T>G
c.2025T>G (p.Ala675=)
c.1440T>G (p.Ala480=)
c.1542T>G (p.Ala514=)
15g.50490404G>ACA392399008USP8c.2113G>A (p.Glu705Lys)
c.1795G>A (p.Glu599Lys)
n.530G>A
c.2026G>A (p.Glu676Lys)
c.1441G>A (p.Glu481Lys)
c.1543G>A (p.Glu515Lys)
15g.50490404G>CCA392399010USP8c.2113G>C (p.Glu705Gln)
c.1795G>C (p.Glu599Gln)
n.530G>C
c.2026G>C (p.Glu676Gln)
c.1441G>C (p.Glu481Gln)
c.1543G>C (p.Glu515Gln)
15g.50490404G>TCA392399011USP8c.2113G>T (p.Glu705Ter)
c.1795G>T (p.Glu599Ter)
n.530G>T
c.2026G>T (p.Glu676Ter)
c.1441G>T (p.Glu481Ter)
c.1543G>T (p.Glu515Ter)
15g.50490405A>CCA392399013USP8c.2114A>C (p.Glu705Ala)
c.1796A>C (p.Glu599Ala)
n.531A>C
c.2027A>C (p.Glu676Ala)
c.1442A>C (p.Glu481Ala)
c.1544A>C (p.Glu515Ala)
15g.50490405A>GCA392399014USP8c.2114A>G (p.Glu705Gly)
c.1796A>G (p.Glu599Gly)
n.531A>G
c.2027A>G (p.Glu676Gly)
c.1442A>G (p.Glu481Gly)
c.1544A>G (p.Glu515Gly)
15g.50490405A>TCA392399016USP8c.2114A>T (p.Glu705Val)
c.1796A>T (p.Glu599Val)
n.531A>T
c.2027A>T (p.Glu676Val)
c.1442A>T (p.Glu481Val)
c.1544A>T (p.Glu515Val)
dbSNP
15g.50490406G>ACA490561864USP8c.2115G>A (p.Glu705=)
c.1797G>A (p.Glu599=)
n.532G>A
c.2028G>A (p.Glu676=)
c.1443G>A (p.Glu481=)
c.1545G>A (p.Glu515=)
15g.50490406G>CCA392399018USP8c.2115G>C (p.Glu705Asp)
c.1797G>C (p.Glu599Asp)
n.532G>C
c.2028G>C (p.Glu676Asp)
c.1443G>C (p.Glu481Asp)
c.1545G>C (p.Glu515Asp)
15g.50490406G>TCA392399019USP8c.2115G>T (p.Glu705Asp)
c.1797G>T (p.Glu599Asp)
n.532G>T
c.2028G>T (p.Glu676Asp)
c.1443G>T (p.Glu481Asp)
c.1545G>T (p.Glu515Asp)
15g.50490407C>ACA490561865USP8c.2116C>A (p.Arg706=)
c.1798C>A (p.Arg600=)
n.533C>A
c.2029C>A (p.Arg677=)
c.1444C>A (p.Arg482=)
c.1546C>A (p.Arg516=)
15g.50490407C=CA2176424900USP8c.2116C= (p.Arg706=)
c.1798C= (p.Arg600=)
n.533C=
c.2029C= (p.Arg677=)
c.1444C= (p.Arg482=)
c.1546C= (p.Arg516=)
15g.50490407C>GCA392399021USP8c.2116C>G (p.Arg706Gly)
c.1798C>G (p.Arg600Gly)
n.533C>G
c.2029C>G (p.Arg677Gly)
c.1444C>G (p.Arg482Gly)
c.1546C>G (p.Arg516Gly)
gnomAD v4
15g.50490407C>TCA7555894USP8c.2116C>T (p.Arg706Trp)
c.1798C>T (p.Arg600Trp)
n.533C>T
c.2029C>T (p.Arg677Trp)
c.1444C>T (p.Arg482Trp)
c.1546C>T (p.Arg516Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490408G>ACA7555895USP8c.2117G>A (p.Arg706Gln)
c.1799G>A (p.Arg600Gln)
n.534G>A
c.2030G>A (p.Arg677Gln)
c.1445G>A (p.Arg482Gln)
c.1547G>A (p.Arg516Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50490408G>CCA392399024USP8c.2117G>C (p.Arg706Pro)
c.1799G>C (p.Arg600Pro)
n.534G>C
c.2030G>C (p.Arg677Pro)
c.1445G>C (p.Arg482Pro)
c.1547G>C (p.Arg516Pro)
15g.50490408G=CA2176424901USP8c.2117G= (p.Arg706=)
c.1799G= (p.Arg600=)
n.534G=
c.2030G= (p.Arg677=)
c.1445G= (p.Arg482=)
c.1547G= (p.Arg516=)
15g.50490408G>TCA392399025USP8c.2117G>T (p.Arg706Leu)
c.1799G>T (p.Arg600Leu)
n.534G>T
c.2030G>T (p.Arg677Leu)
c.1445G>T (p.Arg482Leu)
c.1547G>T (p.Arg516Leu)
15g.50490409G>ACA490561866USP8c.2118G>A (p.Arg706=)
c.1800G>A (p.Arg600=)
n.535G>A
c.2031G>A (p.Arg677=)
c.1446G>A (p.Arg482=)
c.1548G>A (p.Arg516=)
dbSNP
15g.50490409G>CCA490561867USP8c.2118G>C (p.Arg706=)
c.1800G>C (p.Arg600=)
n.535G>C
c.2031G>C (p.Arg677=)
c.1446G>C (p.Arg482=)
c.1548G>C (p.Arg516=)
15g.50490409G>TCA490561868USP8c.2118G>T (p.Arg706=)
c.1800G>T (p.Arg600=)
n.535G>T
c.2031G>T (p.Arg677=)
c.1446G>T (p.Arg482=)
c.1548G>T (p.Arg516=)
15g.50490410G>ACA392399027USP8c.2119G>A (p.Asp707Asn)
c.1801G>A (p.Asp601Asn)
n.536G>A
c.2032G>A (p.Asp678Asn)
c.1447G>A (p.Asp483Asn)
c.1549G>A (p.Asp517Asn)
15g.50490410G>CCA392399028USP8c.2119G>C (p.Asp707His)
c.1801G>C (p.Asp601His)
n.536G>C
c.2032G>C (p.Asp678His)
c.1447G>C (p.Asp483His)
c.1549G>C (p.Asp517His)
15g.50490410G=CA2176424902USP8c.2119G= (p.Asp707=)
c.1801G= (p.Asp601=)
n.536G=
c.2032G= (p.Asp678=)
c.1447G= (p.Asp483=)
c.1549G= (p.Asp517=)
15g.50490410G>TCA392399029USP8c.2119G>T (p.Asp707Tyr)
c.1801G>T (p.Asp601Tyr)
n.536G>T
c.2032G>T (p.Asp678Tyr)
c.1447G>T (p.Asp483Tyr)
c.1549G>T (p.Asp517Tyr)
dbSNP
15g.50490411A=CA2176424903USP8c.2120A= (p.Asp707=)
c.1802A= (p.Asp601=)
n.537A=
c.2033A= (p.Asp678=)
c.1448A= (p.Asp483=)
c.1550A= (p.Asp517=)
15g.50490411A>CCA392399032USP8c.2120A>C (p.Asp707Ala)
c.1802A>C (p.Asp601Ala)
n.537A>C
c.2033A>C (p.Asp678Ala)
c.1448A>C (p.Asp483Ala)
c.1550A>C (p.Asp517Ala)
15g.50490411A>GCA392399033USP8c.2120A>G (p.Asp707Gly)
c.1802A>G (p.Asp601Gly)
n.537A>G
c.2033A>G (p.Asp678Gly)
c.1448A>G (p.Asp483Gly)
c.1550A>G (p.Asp517Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.50490411A>TCA392399035USP8c.2120A>T (p.Asp707Val)
c.1802A>T (p.Asp601Val)
n.537A>T
c.2033A>T (p.Asp678Val)
c.1448A>T (p.Asp483Val)
c.1550A>T (p.Asp517Val)
gnomAD v4
15g.50490412T>ACA392399037USP8c.2121T>A (p.Asp707Glu)
c.1803T>A (p.Asp601Glu)
n.538T>A
c.2034T>A (p.Asp678Glu)
c.1449T>A (p.Asp483Glu)
c.1551T>A (p.Asp517Glu)
15g.50490412T>CCA7555896USP8c.2121T>C (p.Asp707=)
c.1803T>C (p.Asp601=)
n.538T>C
c.2034T>C (p.Asp678=)
c.1449T>C (p.Asp483=)
c.1551T>C (p.Asp517=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490412T>GCA392399040USP8c.2121T>G (p.Asp707Glu)
c.1803T>G (p.Asp601Glu)
n.538T>G
c.2034T>G (p.Asp678Glu)
c.1449T>G (p.Asp483Glu)
c.1551T>G (p.Asp517Glu)
15g.50490412T=CA2176424904USP8c.2121T= (p.Asp707=)
c.1803T= (p.Asp601=)
n.538T=
c.2034T= (p.Asp678=)
c.1449T= (p.Asp483=)
c.1551T= (p.Asp517=)
15g.50490413A>CCA490561869USP8c.2122A>C (p.Arg708=)
c.1804A>C (p.Arg602=)
n.539A>C
c.2035A>C (p.Arg679=)
c.1450A>C (p.Arg484=)
c.1552A>C (p.Arg518=)
15g.50490413A>GCA392399043USP8c.2122A>G (p.Arg708Gly)
c.1804A>G (p.Arg602Gly)
n.539A>G
c.2035A>G (p.Arg679Gly)
c.1450A>G (p.Arg484Gly)
c.1552A>G (p.Arg518Gly)
COSMIC
15g.50490413A>TCA392399041USP8c.2122A>T (p.Arg708Trp)
c.1804A>T (p.Arg602Trp)
n.539A>T
c.2035A>T (p.Arg679Trp)
c.1450A>T (p.Arg484Trp)
c.1552A>T (p.Arg518Trp)
15g.50490414G>ACA7555897USP8c.2123G>A (p.Arg708Lys)
c.1805G>A (p.Arg602Lys)
n.540G>A
c.2036G>A (p.Arg679Lys)
c.1451G>A (p.Arg484Lys)
c.1553G>A (p.Arg518Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50490414G>CCA392399046USP8c.2123G>C (p.Arg708Thr)
c.1805G>C (p.Arg602Thr)
n.540G>C
c.2036G>C (p.Arg679Thr)
c.1451G>C (p.Arg484Thr)
c.1553G>C (p.Arg518Thr)
15g.50490414G=CA2176424905USP8c.2123G= (p.Arg708=)
c.1805G= (p.Arg602=)
n.540G=
c.2036G= (p.Arg679=)
c.1451G= (p.Arg484=)
c.1553G= (p.Arg518=)
15g.50490414G>TCA392399048USP8c.2123G>T (p.Arg708Met)
c.1805G>T (p.Arg602Met)
n.540G>T
c.2036G>T (p.Arg679Met)
c.1451G>T (p.Arg484Met)
c.1553G>T (p.Arg518Met)
dbSNP
15g.50490415G>ACA490561870USP8c.2124G>A (p.Arg708=)
c.1806G>A (p.Arg602=)
n.541G>A
c.2037G>A (p.Arg679=)
c.1452G>A (p.Arg484=)
c.1554G>A (p.Arg518=)
dbSNP
15g.50490415G>CCA392399049USP8c.2124G>C (p.Arg708Ser)
c.1806G>C (p.Arg602Ser)
n.541G>C
c.2037G>C (p.Arg679Ser)
c.1452G>C (p.Arg484Ser)
c.1554G>C (p.Arg518Ser)
dbSNP
15g.50490415G=CA2176424906USP8c.2124G= (p.Arg708=)
c.1806G= (p.Arg602=)
n.541G=
c.2037G= (p.Arg679=)
c.1452G= (p.Arg484=)
c.1554G= (p.Arg518=)
15g.50490415G>TCA392399051USP8c.2124G>T (p.Arg708Ser)
c.1806G>T (p.Arg602Ser)
n.541G>T
c.2037G>T (p.Arg679Ser)
c.1452G>T (p.Arg484Ser)
c.1554G>T (p.Arg518Ser)
15g.50490416G>ACA392399053USP8c.2125G>A (p.Glu709Lys)
c.1807G>A (p.Glu603Lys)
n.542G>A
c.2038G>A (p.Glu680Lys)
c.1453G>A (p.Glu485Lys)
c.1555G>A (p.Glu519Lys)
dbSNP
15g.50490416G>CCA392399054USP8c.2125G>C (p.Glu709Gln)
c.1807G>C (p.Glu603Gln)
n.542G>C
c.2038G>C (p.Glu680Gln)
c.1453G>C (p.Glu485Gln)
c.1555G>C (p.Glu519Gln)
dbSNP
15g.50490416G=CA2176424907USP8c.2125G= (p.Glu709=)
c.1807G= (p.Glu603=)
n.542G=
c.2038G= (p.Glu680=)
c.1453G= (p.Glu485=)
c.1555G= (p.Glu519=)
15g.50490416G>TCA392399056USP8c.2125G>T (p.Glu709Ter)
c.1807G>T (p.Glu603Ter)
n.542G>T
c.2038G>T (p.Glu680Ter)
c.1453G>T (p.Glu485Ter)
c.1555G>T (p.Glu519Ter)
15g.50490417A>CCA392399058USP8c.2126A>C (p.Glu709Ala)
c.1808A>C (p.Glu603Ala)
n.543A>C
c.2039A>C (p.Glu680Ala)
c.1454A>C (p.Glu485Ala)
c.1556A>C (p.Glu519Ala)
15g.50490417A>GCA392399059USP8c.2126A>G (p.Glu709Gly)
c.1808A>G (p.Glu603Gly)
n.543A>G
c.2039A>G (p.Glu680Gly)
c.1454A>G (p.Glu485Gly)
c.1556A>G (p.Glu519Gly)
15g.50490417A>TCA392399061USP8c.2126A>T (p.Glu709Val)
c.1808A>T (p.Glu603Val)
n.543A>T
c.2039A>T (p.Glu680Val)
c.1454A>T (p.Glu485Val)
c.1556A>T (p.Glu519Val)
15g.50490418A>CCA392399063USP8c.2127A>C (p.Glu709Asp)
c.1809A>C (p.Glu603Asp)
n.544A>C
c.2040A>C (p.Glu680Asp)
c.1455A>C (p.Glu485Asp)
c.1557A>C (p.Glu519Asp)
15g.50490418A>GCA490561871USP8c.2127A>G (p.Glu709=)
c.1809A>G (p.Glu603=)
n.544A>G
c.2040A>G (p.Glu680=)
c.1455A>G (p.Glu485=)
c.1557A>G (p.Glu519=)
15g.50490418A>TCA392399064USP8c.2127A>T (p.Glu709Asp)
c.1809A>T (p.Glu603Asp)
n.544A>T
c.2040A>T (p.Glu680Asp)
c.1455A>T (p.Glu485Asp)
c.1557A>T (p.Glu519Asp)
15g.50490419C>ACA392399070USP8c.2128C>A (p.Pro710Thr)
c.1810C>A (p.Pro604Thr)
n.545C>A
c.2041C>A (p.Pro681Thr)
c.1456C>A (p.Pro486Thr)
c.1558C>A (p.Pro520Thr)
15g.50490419C=CA2176424908USP8c.2128C= (p.Pro710=)
c.1810C= (p.Pro604=)
n.545C=
c.2041C= (p.Pro681=)
c.1456C= (p.Pro486=)
c.1558C= (p.Pro520=)
15g.50490419C>GCA392399066USP8c.2128C>G (p.Pro710Ala)
c.1810C>G (p.Pro604Ala)
n.545C>G
c.2041C>G (p.Pro681Ala)
c.1456C>G (p.Pro486Ala)
c.1558C>G (p.Pro520Ala)
dbSNP gnomAD v3 gnomAD v4
15g.50490419C>TCA392399068USP8c.2128C>T (p.Pro710Ser)
c.1810C>T (p.Pro604Ser)
n.545C>T
c.2041C>T (p.Pro681Ser)
c.1456C>T (p.Pro486Ser)
c.1558C>T (p.Pro520Ser)
dbSNP
15g.50490420C>ACA392399072USP8c.2129C>A (p.Pro710His)
c.1811C>A (p.Pro604His)
n.546C>A
c.2042C>A (p.Pro681His)
c.1457C>A (p.Pro486His)
c.1559C>A (p.Pro520His)
15g.50490420C=CA2176424909USP8c.2129C= (p.Pro710=)
c.1811C= (p.Pro604=)
n.546C=
c.2042C= (p.Pro681=)
c.1457C= (p.Pro486=)
c.1559C= (p.Pro520=)
15g.50490420C>GCA392399073USP8c.2129C>G (p.Pro710Arg)
c.1811C>G (p.Pro604Arg)
n.546C>G
c.2042C>G (p.Pro681Arg)
c.1457C>G (p.Pro486Arg)
c.1559C>G (p.Pro520Arg)
gnomAD v4
15g.50490420C>TCA392399074USP8c.2129C>T (p.Pro710Leu)
c.1811C>T (p.Pro604Leu)
n.546C>T
c.2042C>T (p.Pro681Leu)
c.1457C>T (p.Pro486Leu)
c.1559C>T (p.Pro520Leu)
dbSNP gnomAD v4
15g.50490421T>ACA490561872USP8c.2130T>A (p.Pro710=)
c.1812T>A (p.Pro604=)
n.547T>A
c.2043T>A (p.Pro681=)
c.1458T>A (p.Pro486=)
c.1560T>A (p.Pro520=)
15g.50490421T>CCA490561873USP8c.2130T>C (p.Pro710=)
c.1812T>C (p.Pro604=)
n.547T>C
c.2043T>C (p.Pro681=)
c.1458T>C (p.Pro486=)
c.1560T>C (p.Pro520=)
15g.50490421T>GCA490561874USP8c.2130T>G (p.Pro710=)
c.1812T>G (p.Pro604=)
n.547T>G
c.2043T>G (p.Pro681=)
c.1458T>G (p.Pro486=)
c.1560T>G (p.Pro520=)
gnomAD v3 gnomAD v4
15g.50490422T>ACA392399077USP8c.2131T>A (p.Ser711Thr)
c.1813T>A (p.Ser605Thr)
n.548T>A
c.2044T>A (p.Ser682Thr)
c.1459T>A (p.Ser487Thr)
c.1561T>A (p.Ser521Thr)
15g.50490422T>CCA392399078USP8c.2131T>C (p.Ser711Pro)
c.1813T>C (p.Ser605Pro)
n.548T>C
c.2044T>C (p.Ser682Pro)
c.1459T>C (p.Ser487Pro)
c.1561T>C (p.Ser521Pro)
15g.50490422T>GCA392399080USP8c.2131T>G (p.Ser711Ala)
c.1813T>G (p.Ser605Ala)
n.548T>G
c.2044T>G (p.Ser682Ala)
c.1459T>G (p.Ser487Ala)
c.1561T>G (p.Ser521Ala)
15g.50490423C>ACA392399082USP8c.2132C>A (p.Ser711Tyr)
c.1814C>A (p.Ser605Tyr)
n.549C>A
c.2045C>A (p.Ser682Tyr)
c.1460C>A (p.Ser487Tyr)
c.1562C>A (p.Ser521Tyr)
dbSNP
15g.50490423C>GCA392399083USP8c.2132C>G (p.Ser711Cys)
c.1814C>G (p.Ser605Cys)
n.549C>G
c.2045C>G (p.Ser682Cys)
c.1460C>G (p.Ser487Cys)
c.1562C>G (p.Ser521Cys)
15g.50490423C>TCA392399084USP8c.2132C>T (p.Ser711Phe)
c.1814C>T (p.Ser605Phe)
n.549C>T
c.2045C>T (p.Ser682Phe)
c.1460C>T (p.Ser487Phe)
c.1562C>T (p.Ser521Phe)
gnomAD v4
15g.50490424C>ACA490561875USP8c.2133C>A (p.Ser711=)
c.1815C>A (p.Ser605=)
n.550C>A
c.2046C>A (p.Ser682=)
c.1461C>A (p.Ser487=)
c.1563C>A (p.Ser521=)
15g.50490424C>GCA490561876USP8c.2133C>G (p.Ser711=)
c.1815C>G (p.Ser605=)
n.550C>G
c.2046C>G (p.Ser682=)
c.1461C>G (p.Ser487=)
c.1563C>G (p.Ser521=)
15g.50490424C>TCA490561877USP8c.2133C>T (p.Ser711=)
c.1815C>T (p.Ser605=)
n.550C>T
c.2046C>T (p.Ser682=)
c.1461C>T (p.Ser487=)
c.1563C>T (p.Ser521=)
15g.50490425A>CCA392399085USP8c.2134A>C (p.Lys712Gln)
c.1816A>C (p.Lys606Gln)
n.551A>C
c.2047A>C (p.Lys683Gln)
c.1462A>C (p.Lys488Gln)
c.1564A>C (p.Lys522Gln)
15g.50490425A>GCA392399086USP8c.2134A>G (p.Lys712Glu)
c.1816A>G (p.Lys606Glu)
n.551A>G
c.2047A>G (p.Lys683Glu)
c.1462A>G (p.Lys488Glu)
c.1564A>G (p.Lys522Glu)
15g.50490425A>TCA392399087USP8c.2134A>T (p.Lys712Ter)
c.1816A>T (p.Lys606Ter)
n.551A>T
c.2047A>T (p.Lys683Ter)
c.1462A>T (p.Lys488Ter)
c.1564A>T (p.Lys522Ter)
15g.50490426A>CCA392399090USP8c.2135A>C (p.Lys712Thr)
c.1817A>C (p.Lys606Thr)
n.552A>C
c.2048A>C (p.Lys683Thr)
c.1463A>C (p.Lys488Thr)
c.1565A>C (p.Lys522Thr)
15g.50490426A>GCA392399089USP8c.2135A>G (p.Lys712Arg)
c.1817A>G (p.Lys606Arg)
n.552A>G
c.2048A>G (p.Lys683Arg)
c.1463A>G (p.Lys488Arg)
c.1565A>G (p.Lys522Arg)
15g.50490426A>TCA392399088USP8c.2135A>T (p.Lys712Ile)
c.1817A>T (p.Lys606Ile)
n.552A>T
c.2048A>T (p.Lys683Ile)
c.1463A>T (p.Lys488Ile)
c.1565A>T (p.Lys522Ile)
15g.50490427A>CCA392399091USP8c.2136A>C (p.Lys712Asn)
c.1818A>C (p.Lys606Asn)
n.553A>C
c.2049A>C (p.Lys683Asn)
c.1464A>C (p.Lys488Asn)
c.1566A>C (p.Lys522Asn)
15g.50490427A>GCA490561878USP8c.2136A>G (p.Lys712=)
c.1818A>G (p.Lys606=)
n.553A>G
c.2049A>G (p.Lys683=)
c.1464A>G (p.Lys488=)
c.1566A>G (p.Lys522=)
15g.50490427A>TCA392399092USP8c.2136A>T (p.Lys712Asn)
c.1818A>T (p.Lys606Asn)
n.553A>T
c.2049A>T (p.Lys683Asn)
c.1464A>T (p.Lys488Asn)
c.1566A>T (p.Lys522Asn)
15g.50490428C>ACA392399093USP8c.2137C>A (p.Leu713Met)
c.1819C>A (p.Leu607Met)
n.554C>A
c.2050C>A (p.Leu684Met)
c.1465C>A (p.Leu489Met)
c.1567C>A (p.Leu523Met)
15g.50490428C=CA2176424910USP8c.2137C= (p.Leu713=)
c.1819C= (p.Leu607=)
n.554C=
c.2050C= (p.Leu684=)
c.1465C= (p.Leu489=)
c.1567C= (p.Leu523=)
15g.50490428C>GCA392399094USP8c.2137C>G (p.Leu713Val)
c.1819C>G (p.Leu607Val)
n.554C>G
c.2050C>G (p.Leu684Val)
c.1465C>G (p.Leu489Val)
c.1567C>G (p.Leu523Val)
15g.50490428C>TCA7555898USP8c.2137C>T (p.Leu713=)
c.1819C>T (p.Leu607=)
n.554C>T
c.2050C>T (p.Leu684=)
c.1465C>T (p.Leu489=)
c.1567C>T (p.Leu523=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50490429T>ACA392399095USP8c.2138T>A (p.Leu713Gln)
c.1820T>A (p.Leu607Gln)
n.555T>A
c.2051T>A (p.Leu684Gln)
c.1466T>A (p.Leu489Gln)
c.1568T>A (p.Leu523Gln)
15g.50490429T>CCA392399096USP8c.2138T>C (p.Leu713Pro)
c.1820T>C (p.Leu607Pro)
n.555T>C
c.2051T>C (p.Leu684Pro)
c.1466T>C (p.Leu489Pro)
c.1568T>C (p.Leu523Pro)
15g.50490429T>GCA048717USP8c.2138T>G (p.Leu713Arg)
c.1820T>G (p.Leu607Arg)
n.555T>G
c.2051T>G (p.Leu684Arg)
c.1466T>G (p.Leu489Arg)
c.1568T>G (p.Leu523Arg)
dbSNP COSMIC
15g.[50490429T>G;50490441A>G]CA049040USP8c.[2138T>G;2150A>G] (p.[Leu713Arg;Tyr717Cys])
c.[1820T>G;1832A>G] (p.[Leu607Arg;Tyr611Cys])
c.[2051T>G;2063A>G] (p.[Leu684Arg;Tyr688Cys])
c.[1466T>G;1478A>G] (p.[Leu489Arg;Tyr493Cys])
c.[1568T>G;1580A>G] (p.[Leu523Arg;Tyr527Cys])
15g.50490429T=CA2176424911USP8c.2138T= (p.Leu713=)
c.1820T= (p.Leu607=)
n.555T=
c.2051T= (p.Leu684=)
c.1466T= (p.Leu489=)
c.1568T= (p.Leu523=)
15g.50490430G>ACA490561879USP8c.2139G>A (p.Leu713=)
c.1821G>A (p.Leu607=)
n.556G>A
c.2052G>A (p.Leu684=)
c.1467G>A (p.Leu489=)
c.1569G>A (p.Leu523=)
15g.50490430G>CCA490561880USP8c.2139G>C (p.Leu713=)
c.1821G>C (p.Leu607=)
n.556G>C
c.2052G>C (p.Leu684=)
c.1467G>C (p.Leu489=)
c.1569G>C (p.Leu523=)
15g.50490430G>TCA490561881USP8c.2139G>T (p.Leu713=)
c.1821G>T (p.Leu607=)
n.556G>T
c.2052G>T (p.Leu684=)
c.1467G>T (p.Leu489=)
c.1569G>T (p.Leu523=)
15g.50490431A>CCA392399097USP8c.2140A>C (p.Lys714Gln)
c.1822A>C (p.Lys608Gln)
c.2053A>C (p.Lys685Gln)
c.1468A>C (p.Lys490Gln)
c.1570A>C (p.Lys524Gln)
15g.50490431A>GCA392399098USP8c.2140A>G (p.Lys714Glu)
c.1822A>G (p.Lys608Glu)
c.2053A>G (p.Lys685Glu)
c.1468A>G (p.Lys490Glu)
c.1570A>G (p.Lys524Glu)
15g.50490431A>TCA392399099USP8c.2140A>T (p.Lys714Ter)
c.1822A>T (p.Lys608Ter)
c.2053A>T (p.Lys685Ter)
c.1468A>T (p.Lys490Ter)
c.1570A>T (p.Lys524Ter)

Number of alleles fetched