Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53984984_53984986dupCA10423301PHF8c.2080_2082dup (p.Glu694_Asn695insGlu)
c.2383_2385dup (p.Glu795_Asn796insGlu)
c.*838_*840dup (n.*838_*840dup)
c.*1825_*1827dup (n.*1825_*1827dup)
n.1747_1749dup
c.2332_2334dup (p.Glu778_Asn779insGlu)
c.2491_2493dup (p.Glu831_Asn832insGlu)
c.2094_2096dup
c.1673_1675dup
c.810_812dup (p.Arg271_Thr272insArg)
c.2188_2190dup (p.Glu730_Asn731insGlu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53984984_53984986delCA10423300PHF8c.2080_2082del (p.Glu694del)
c.2383_2385del (p.Glu795del)
c.*838_*840del (n.*838_*840del)
c.*1825_*1827del (n.*1825_*1827del)
n.1747_1749del
c.2332_2334del (p.Glu778del)
c.2491_2493del (p.Glu831del)
c.2094_2096del
c.1673_1675del
c.810_812del (p.Arg271del)
c.2188_2190del (p.Glu730del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.53984981_53984986delCA2521958049PHF8c.2077_2082del (p.Glu693_Glu694del)
c.2380_2385del (p.Glu794_Glu795del)
c.*835_*840del (n.*835_*840del)
c.*1822_*1827del (n.*1822_*1827del)
n.1744_1749del
c.2329_2334del (p.Glu777_Glu778del)
c.2488_2493del (p.Glu830_Glu831del)
c.2091_2096del
c.1670_1675del
c.807_812del (p.Arg270_Arg271del)
c.2185_2190del (p.Glu729_Glu730del)
Xg.53984981C>ACA413251834PHF8c.2073G>T (p.Glu691Asp)
c.2376G>T (p.Glu792Asp)
c.*831G>T (n.*831G>T)
c.*1818G>T (n.*1818G>T)
n.1740G>T
c.2325G>T (p.Glu775Asp)
c.2484G>T (p.Glu828Asp)
c.2087G>T
c.1666G>T
c.803G>T (p.Arg268Met)
c.2181G>T (p.Glu727Asp)
Xg.53984981C=CA2430030658PHF8c.2073G= (p.Glu691=)
c.2376G= (p.Glu792=)
c.*831G= (n.*831G=)
c.*1818G= (n.*1818G=)
n.1740G=
c.2325G= (p.Glu775=)
c.2484G= (p.Glu828=)
c.2087G=
c.1666G=
c.803G= (p.Arg268=)
c.2181G= (p.Glu727=)
Xg.53984981C>GCA413251836PHF8c.2073G>C (p.Glu691Asp)
c.2376G>C (p.Glu792Asp)
c.*831G>C (n.*831G>C)
c.*1818G>C (n.*1818G>C)
n.1740G>C
c.2325G>C (p.Glu775Asp)
c.2484G>C (p.Glu828Asp)
c.2087G>C
c.1666G>C
c.803G>C (p.Arg268Thr)
c.2181G>C (p.Glu727Asp)
Xg.53984981C>TCA413251838PHF8c.2073G>A (p.Glu691=)
c.2376G>A (p.Glu792=)
c.*831G>A (n.*831G>A)
c.*1818G>A (n.*1818G>A)
n.1740G>A
c.2325G>A (p.Glu775=)
c.2484G>A (p.Glu828=)
c.2087G>A
c.1666G>A
c.803G>A (p.Arg268Lys)
c.2181G>A (p.Glu727=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53984982T>ACA413251846PHF8c.2072A>T (p.Glu691Val)
c.2375A>T (p.Glu792Val)
c.*830A>T (n.*830A>T)
c.*1817A>T (n.*1817A>T)
n.1739A>T
c.2324A>T (p.Glu775Val)
c.2483A>T (p.Glu828Val)
c.2086A>T
c.1665A>T
c.802A>T (p.Arg268Trp)
c.2180A>T (p.Glu727Val)
Xg.53984982T>CCA413251844PHF8c.2072A>G (p.Glu691Gly)
c.2375A>G (p.Glu792Gly)
c.*830A>G (n.*830A>G)
c.*1817A>G (n.*1817A>G)
n.1739A>G
c.2324A>G (p.Glu775Gly)
c.2483A>G (p.Glu828Gly)
c.2086A>G
c.1665A>G
c.802A>G (p.Arg268Gly)
c.2180A>G (p.Glu727Gly)
Xg.53984982T>GCA413251842PHF8c.2072A>C (p.Glu691Ala)
c.2375A>C (p.Glu792Ala)
c.*830A>C (n.*830A>C)
c.*1817A>C (n.*1817A>C)
n.1739A>C
c.2324A>C (p.Glu775Ala)
c.2483A>C (p.Glu828Ala)
c.2086A>C
c.1665A>C
c.802A>C (p.Arg268=)
c.2180A>C (p.Glu727Ala)
Xg.53984983C>ACA413251849PHF8c.2071G>T (p.Glu691Ter)
c.2374G>T (p.Glu792Ter)
c.*829G>T (n.*829G>T)
c.*1816G>T (n.*1816G>T)
n.1738G>T
c.2323G>T (p.Glu775Ter)
c.2482G>T (p.Glu828Ter)
c.2085G>T
c.1664G>T
c.801G>T (p.Arg267Ser)
c.2179G>T (p.Glu727Ter)
Xg.53984983C>GCA413251851PHF8c.2071G>C (p.Glu691Gln)
c.2374G>C (p.Glu792Gln)
c.*829G>C (n.*829G>C)
c.*1816G>C (n.*1816G>C)
n.1738G>C
c.2323G>C (p.Glu775Gln)
c.2482G>C (p.Glu828Gln)
c.2085G>C
c.1664G>C
c.801G>C (p.Arg267Ser)
c.2179G>C (p.Glu727Gln)
Xg.53984983C>TCA413251853PHF8c.2071G>A (p.Glu691Lys)
c.2374G>A (p.Glu792Lys)
c.*829G>A (n.*829G>A)
c.*1816G>A (n.*1816G>A)
n.1738G>A
c.2323G>A (p.Glu775Lys)
c.2482G>A (p.Glu828Lys)
c.2085G>A
c.1664G>A
c.801G>A (p.Arg267=)
c.2179G>A (p.Glu727Lys)
Xg.53984984C>ACA413251856PHF8c.2070G>T (p.Glu690Asp)
c.2373G>T (p.Glu791Asp)
c.*828G>T (n.*828G>T)
c.*1815G>T (n.*1815G>T)
n.1737G>T
c.2322G>T (p.Glu774Asp)
c.2481G>T (p.Glu827Asp)
c.2084G>T
c.1663G>T
c.800G>T (p.Arg267Met)
c.2178G>T (p.Glu726Asp)
Xg.53984984C>GCA413251858PHF8c.2070G>C (p.Glu690Asp)
c.2373G>C (p.Glu791Asp)
c.*828G>C (n.*828G>C)
c.*1815G>C (n.*1815G>C)
n.1737G>C
c.2322G>C (p.Glu774Asp)
c.2481G>C (p.Glu827Asp)
c.2084G>C
c.1663G>C
c.800G>C (p.Arg267Thr)
c.2178G>C (p.Glu726Asp)
Xg.53984984C>TCA413251860PHF8c.2070G>A (p.Glu690=)
c.2373G>A (p.Glu791=)
c.*828G>A (n.*828G>A)
c.*1815G>A (n.*1815G>A)
n.1737G>A
c.2322G>A (p.Glu774=)
c.2481G>A (p.Glu827=)
c.2084G>A
c.1663G>A
c.800G>A (p.Arg267Lys)
c.2178G>A (p.Glu726=)
Xg.53984985T>ACA413251863PHF8c.2069A>T (p.Glu690Val)
c.2372A>T (p.Glu791Val)
c.*827A>T (n.*827A>T)
c.*1814A>T (n.*1814A>T)
n.1736A>T
c.2321A>T (p.Glu774Val)
c.2480A>T (p.Glu827Val)
c.2083A>T
c.1662A>T
c.799A>T (p.Arg267Trp)
c.2177A>T (p.Glu726Val)
Xg.53984985T>CCA413251867PHF8c.2069A>G (p.Glu690Gly)
c.2372A>G (p.Glu791Gly)
c.*827A>G (n.*827A>G)
c.*1814A>G (n.*1814A>G)
n.1736A>G
c.2321A>G (p.Glu774Gly)
c.2480A>G (p.Glu827Gly)
c.2083A>G
c.1662A>G
c.799A>G (p.Arg267Gly)
c.2177A>G (p.Glu726Gly)
Xg.53984985T>GCA413251864PHF8c.2069A>C (p.Glu690Ala)
c.2372A>C (p.Glu791Ala)
c.*827A>C (n.*827A>C)
c.*1814A>C (n.*1814A>C)
n.1736A>C
c.2321A>C (p.Glu774Ala)
c.2480A>C (p.Glu827Ala)
c.2083A>C
c.1662A>C
c.799A>C (p.Arg267=)
c.2177A>C (p.Glu726Ala)
Xg.53984986C>ACA413251869PHF8c.2068G>T (p.Glu690Ter)
c.2371G>T (p.Glu791Ter)
c.*826G>T (n.*826G>T)
c.*1813G>T (n.*1813G>T)
n.1735G>T
c.2320G>T (p.Glu774Ter)
c.2479G>T (p.Glu827Ter)
c.2082G>T
c.1661G>T
c.798G>T (p.Ala266=)
c.2176G>T (p.Glu726Ter)
Xg.53984986C=CA2430030659PHF8c.2068G= (p.Glu690=)
c.2371G= (p.Glu791=)
c.*826G= (n.*826G=)
c.*1813G= (n.*1813G=)
n.1735G=
c.2320G= (p.Glu774=)
c.2479G= (p.Glu827=)
c.2082G=
c.1661G=
c.798G= (p.Ala266=)
c.2176G= (p.Glu726=)
Xg.53984986C>GCA413251871PHF8c.2068G>C (p.Glu690Gln)
c.2371G>C (p.Glu791Gln)
c.*826G>C (n.*826G>C)
c.*1813G>C (n.*1813G>C)
n.1735G>C
c.2320G>C (p.Glu774Gln)
c.2479G>C (p.Glu827Gln)
c.2082G>C
c.1661G>C
c.798G>C (p.Ala266=)
c.2176G>C (p.Glu726Gln)
Xg.53984986C>TCA413251873PHF8c.2068G>A (p.Glu690Lys)
c.2371G>A (p.Glu791Lys)
c.*826G>A (n.*826G>A)
c.*1813G>A (n.*1813G>A)
n.1735G>A
c.2320G>A (p.Glu774Lys)
c.2479G>A (p.Glu827Lys)
c.2082G>A
c.1661G>A
c.798G>A (p.Ala266=)
c.2176G>A (p.Glu726Lys)
 dbSNP gnomAD v3 gnomAD v4
Xg.53984987G>ACA413251876PHF8c.2067C>T (p.Ser689=)
c.2370C>T (p.Ser790=)
c.*825C>T (n.*825C>T)
c.*1812C>T (n.*1812C>T)
n.1734C>T
c.2319C>T (p.Ser773=)
c.2478C>T (p.Ser826=)
c.2081C>T
c.1660C>T
c.797C>T (p.Ala266Val)
c.2175C>T (p.Ser725=)
 dbSNP gnomAD v4
Xg.53984987G>CCA413251878PHF8c.2067C>G (p.Ser689Arg)
c.2370C>G (p.Ser790Arg)
c.*825C>G (n.*825C>G)
c.*1812C>G (n.*1812C>G)
n.1734C>G
c.2319C>G (p.Ser773Arg)
c.2478C>G (p.Ser826Arg)
c.2081C>G
c.1660C>G
c.797C>G (p.Ala266Gly)
c.2175C>G (p.Ser725Arg)
Xg.53984987G=CA2430030660PHF8c.2067C= (p.Ser689=)
c.2370C= (p.Ser790=)
c.*825C= (n.*825C=)
c.*1812C= (n.*1812C=)
n.1734C=
c.2319C= (p.Ser773=)
c.2478C= (p.Ser826=)
c.2081C=
c.1660C=
c.797C= (p.Ala266=)
c.2175C= (p.Ser725=)
Xg.53984987G>TCA413251880PHF8c.2067C>A (p.Ser689Arg)
c.2370C>A (p.Ser790Arg)
c.*825C>A (n.*825C>A)
c.*1812C>A (n.*1812C>A)
n.1734C>A
c.2319C>A (p.Ser773Arg)
c.2478C>A (p.Ser826Arg)
c.2081C>A
c.1660C>A
c.797C>A (p.Ala266Glu)
c.2175C>A (p.Ser725Arg)
Xg.53984988C>ACA413251884PHF8c.2066G>T (p.Ser689Ile)
c.2369G>T (p.Ser790Ile)
c.*824G>T (n.*824G>T)
c.*1811G>T (n.*1811G>T)
n.1733G>T
c.2318G>T (p.Ser773Ile)
c.2477G>T (p.Ser826Ile)
c.2080G>T
c.1659G>T
c.796G>T (p.Ala266Ser)
c.2174G>T (p.Ser725Ile)
Xg.53984988C>GCA413251886PHF8c.2066G>C (p.Ser689Thr)
c.2369G>C (p.Ser790Thr)
c.*824G>C (n.*824G>C)
c.*1811G>C (n.*1811G>C)
n.1733G>C
c.2318G>C (p.Ser773Thr)
c.2477G>C (p.Ser826Thr)
c.2080G>C
c.1659G>C
c.796G>C (p.Ala266Pro)
c.2174G>C (p.Ser725Thr)
Xg.53984988C>TCA413251888PHF8c.2066G>A (p.Ser689Asn)
c.2369G>A (p.Ser790Asn)
c.*824G>A (n.*824G>A)
c.*1811G>A (n.*1811G>A)
n.1733G>A
c.2318G>A (p.Ser773Asn)
c.2477G>A (p.Ser826Asn)
c.2080G>A
c.1659G>A
c.796G>A (p.Ala266Thr)
c.2174G>A (p.Ser725Asn)
 gnomAD v4
Xg.53984989T>ACA413251891PHF8c.2065A>T (p.Ser689Cys)
c.2368A>T (p.Ser790Cys)
c.*823A>T (n.*823A>T)
c.*1810A>T (n.*1810A>T)
n.1732A>T
c.2317A>T (p.Ser773Cys)
c.2476A>T (p.Ser826Cys)
c.2079A>T
c.1658A>T
c.795A>T (p.Arg265Ser)
c.2173A>T (p.Ser725Cys)
Xg.53984989T>CCA10423302PHF8c.2065A>G (p.Ser689Gly)
c.2368A>G (p.Ser790Gly)
c.*823A>G (n.*823A>G)
c.*1810A>G (n.*1810A>G)
n.1732A>G
c.2317A>G (p.Ser773Gly)
c.2476A>G (p.Ser826Gly)
c.2079A>G
c.1658A>G
c.795A>G (p.Arg265=)
c.2173A>G (p.Ser725Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53984989T>GCA413251895PHF8c.2065A>C (p.Ser689Arg)
c.2368A>C (p.Ser790Arg)
c.*823A>C (n.*823A>C)
c.*1810A>C (n.*1810A>C)
n.1732A>C
c.2317A>C (p.Ser773Arg)
c.2476A>C (p.Ser826Arg)
c.2079A>C
c.1658A>C
c.795A>C (p.Arg265Ser)
c.2173A>C (p.Ser725Arg)
Xg.53984989T=CA2430030661PHF8c.2065A= (p.Ser689=)
c.2368A= (p.Ser790=)
c.*823A= (n.*823A=)
c.*1810A= (n.*1810A=)
n.1732A=
c.2317A= (p.Ser773=)
c.2476A= (p.Ser826=)
c.2079A=
c.1658A=
c.795A= (p.Arg265=)
c.2173A= (p.Ser725=)
Xg.53984990C>ACA413251898PHF8c.2064G>T (p.Glu688Asp)
c.2367G>T (p.Glu789Asp)
c.*822G>T (n.*822G>T)
c.*1809G>T (n.*1809G>T)
n.1731G>T
c.2316G>T (p.Glu772Asp)
c.2475G>T (p.Glu825Asp)
c.2078G>T
c.1657G>T
c.794G>T (p.Arg265Ile)
c.2172G>T (p.Glu724Asp)
Xg.53984990C=CA2430030662PHF8c.2064G= (p.Glu688=)
c.2367G= (p.Glu789=)
c.*822G= (n.*822G=)
c.*1809G= (n.*1809G=)
n.1731G=
c.2316G= (p.Glu772=)
c.2475G= (p.Glu825=)
c.2078G=
c.1657G=
c.794G= (p.Arg265=)
c.2172G= (p.Glu724=)
Xg.53984990C>GCA413251902PHF8c.2064G>C (p.Glu688Asp)
c.2367G>C (p.Glu789Asp)
c.*822G>C (n.*822G>C)
c.*1809G>C (n.*1809G>C)
n.1731G>C
c.2316G>C (p.Glu772Asp)
c.2475G>C (p.Glu825Asp)
c.2078G>C
c.1657G>C
c.794G>C (p.Arg265Thr)
c.2172G>C (p.Glu724Asp)
 dbSNP gnomAD v4
Xg.53984990C>TCA413251900PHF8c.2064G>A (p.Glu688=)
c.2367G>A (p.Glu789=)
c.*822G>A (n.*822G>A)
c.*1809G>A (n.*1809G>A)
n.1731G>A
c.2316G>A (p.Glu772=)
c.2475G>A (p.Glu825=)
c.2078G>A
c.1657G>A
c.794G>A (p.Arg265Lys)
c.2172G>A (p.Glu724=)
 gnomAD v4
Xg.53984991T>ACA413251905PHF8c.2063A>T (p.Glu688Val)
c.2366A>T (p.Glu789Val)
c.*821A>T (n.*821A>T)
c.*1808A>T (n.*1808A>T)
n.1730A>T
c.2315A>T (p.Glu772Val)
c.2474A>T (p.Glu825Val)
c.2077A>T
c.1656A>T
c.793A>T (p.Arg265Ter)
c.2171A>T (p.Glu724Val)
Xg.53984991T>CCA413251907PHF8c.2063A>G (p.Glu688Gly)
c.2366A>G (p.Glu789Gly)
c.*821A>G (n.*821A>G)
c.*1808A>G (n.*1808A>G)
n.1730A>G
c.2315A>G (p.Glu772Gly)
c.2474A>G (p.Glu825Gly)
c.2077A>G
c.1656A>G
c.793A>G (p.Arg265Gly)
c.2171A>G (p.Glu724Gly)
Xg.53984991T>GCA413251909PHF8c.2063A>C (p.Glu688Ala)
c.2366A>C (p.Glu789Ala)
c.*821A>C (n.*821A>C)
c.*1808A>C (n.*1808A>C)
n.1730A>C
c.2315A>C (p.Glu772Ala)
c.2474A>C (p.Glu825Ala)
c.2077A>C
c.1656A>C
c.793A>C (p.Arg265=)
c.2171A>C (p.Glu724Ala)
Xg.53984992C>ACA413251912PHF8c.2062G>T (p.Glu688Ter)
c.2365G>T (p.Glu789Ter)
c.*820G>T (n.*820G>T)
c.*1807G>T (n.*1807G>T)
n.1729G>T
c.2314G>T (p.Glu772Ter)
c.2473G>T (p.Glu825Ter)
c.2076G>T
c.1655G>T
c.792G>T (p.Pro264=)
c.2170G>T (p.Glu724Ter)
Xg.53984992C=CA2430030663PHF8c.2062G= (p.Glu688=)
c.2365G= (p.Glu789=)
c.*820G= (n.*820G=)
c.*1807G= (n.*1807G=)
n.1729G=
c.2314G= (p.Glu772=)
c.2473G= (p.Glu825=)
c.2076G=
c.1655G=
c.792G= (p.Pro264=)
c.2170G= (p.Glu724=)
Xg.53984992C>GCA413251914PHF8c.2062G>C (p.Glu688Gln)
c.2365G>C (p.Glu789Gln)
c.*820G>C (n.*820G>C)
c.*1807G>C (n.*1807G>C)
n.1729G>C
c.2314G>C (p.Glu772Gln)
c.2473G>C (p.Glu825Gln)
c.2076G>C
c.1655G>C
c.792G>C (p.Pro264=)
c.2170G>C (p.Glu724Gln)
Xg.53984992C>TCA10423303PHF8c.2062G>A (p.Glu688Lys)
c.2365G>A (p.Glu789Lys)
c.*820G>A (n.*820G>A)
c.*1807G>A (n.*1807G>A)
n.1729G>A
c.2314G>A (p.Glu772Lys)
c.2473G>A (p.Glu825Lys)
c.2076G>A
c.1655G>A
c.792G>A (p.Pro264=)
c.2170G>A (p.Glu724Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.53984993G>ACA413251918PHF8c.2061C>T (p.Thr687=)
c.2364C>T (p.Thr788=)
c.*819C>T (n.*819C>T)
c.*1806C>T (n.*1806C>T)
n.1728C>T
c.2313C>T (p.Thr771=)
c.2472C>T (p.Thr824=)
c.2075C>T
c.1654C>T
c.791C>T (p.Pro264Leu)
c.2169C>T (p.Thr723=)
 ClinVar gnomAD v4
Xg.53984993G>CCA413251920PHF8c.2061C>G (p.Thr687=)
c.2364C>G (p.Thr788=)
c.*819C>G (n.*819C>G)
c.*1806C>G (n.*1806C>G)
n.1728C>G
c.2313C>G (p.Thr771=)
c.2472C>G (p.Thr824=)
c.2075C>G
c.1654C>G
c.791C>G (p.Pro264Arg)
c.2169C>G (p.Thr723=)
Xg.53984993G>TCA413251923PHF8c.2061C>A (p.Thr687=)
c.2364C>A (p.Thr788=)
c.*819C>A (n.*819C>A)
c.*1806C>A (n.*1806C>A)
n.1728C>A
c.2313C>A (p.Thr771=)
c.2472C>A (p.Thr824=)
c.2075C>A
c.1654C>A
c.791C>A (p.Pro264Gln)
c.2169C>A (p.Thr723=)
Xg.53984994G>ACA413251925PHF8c.2060C>T (p.Thr687Ile)
c.2363C>T (p.Thr788Ile)
c.*818C>T (n.*818C>T)
c.*1805C>T (n.*1805C>T)
n.1727C>T
c.2312C>T (p.Thr771Ile)
c.2471C>T (p.Thr824Ile)
c.2074C>T
c.1653C>T
c.790C>T (p.Pro264Ser)
c.2168C>T (p.Thr723Ile)
Xg.53984994G>CCA413251928PHF8c.2060C>G (p.Thr687Ser)
c.2363C>G (p.Thr788Ser)
c.*818C>G (n.*818C>G)
c.*1805C>G (n.*1805C>G)
n.1727C>G
c.2312C>G (p.Thr771Ser)
c.2471C>G (p.Thr824Ser)
c.2074C>G
c.1653C>G
c.790C>G (p.Pro264Ala)
c.2168C>G (p.Thr723Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.53984994G=CA2430030664PHF8c.2060C= (p.Thr687=)
c.2363C= (p.Thr788=)
c.*818C= (n.*818C=)
c.*1805C= (n.*1805C=)
n.1727C=
c.2312C= (p.Thr771=)
c.2471C= (p.Thr824=)
c.2074C=
c.1653C=
c.790C= (p.Pro264=)
c.2168C= (p.Thr723=)
Xg.53984994G>TCA413251930PHF8c.2060C>A (p.Thr687Asn)
c.2363C>A (p.Thr788Asn)
c.*818C>A (n.*818C>A)
c.*1805C>A (n.*1805C>A)
n.1727C>A
c.2312C>A (p.Thr771Asn)
c.2471C>A (p.Thr824Asn)
c.2074C>A
c.1653C>A
c.790C>A (p.Pro264Thr)
c.2168C>A (p.Thr723Asn)
Xg.53984995T>ACA413251939PHF8c.2059A>T (p.Thr687Ser)
c.2362A>T (p.Thr788Ser)
c.*817A>T (n.*817A>T)
c.*1804A>T (n.*1804A>T)
n.1726A>T
c.2311A>T (p.Thr771Ser)
c.2470A>T (p.Thr824Ser)
c.2073A>T
c.1652A>T
c.789A>T (p.Glu263Asp)
c.2167A>T (p.Thr723Ser)
Xg.53984995T>CCA413251934PHF8c.2059A>G (p.Thr687Ala)
c.2362A>G (p.Thr788Ala)
c.*817A>G (n.*817A>G)
c.*1804A>G (n.*1804A>G)
n.1726A>G
c.2311A>G (p.Thr771Ala)
c.2470A>G (p.Thr824Ala)
c.2073A>G
c.1652A>G
c.789A>G (p.Glu263=)
c.2167A>G (p.Thr723Ala)
Xg.53984995T>GCA413251936PHF8c.2059A>C (p.Thr687Pro)
c.2362A>C (p.Thr788Pro)
c.*817A>C (n.*817A>C)
c.*1804A>C (n.*1804A>C)
n.1726A>C
c.2311A>C (p.Thr771Pro)
c.2470A>C (p.Thr824Pro)
c.2073A>C
c.1652A>C
c.789A>C (p.Glu263Asp)
c.2167A>C (p.Thr723Pro)
Xg.53984996T>ACA413251941PHF8c.2058A>T (p.Arg686Ser)
c.2361A>T (p.Arg787Ser)
c.*816A>T (n.*816A>T)
c.*1803A>T (n.*1803A>T)
n.1725A>T
c.2310A>T (p.Arg770Ser)
c.2469A>T (p.Arg823Ser)
c.2072A>T
c.1651A>T
c.788A>T (p.Glu263Val)
c.2166A>T (p.Arg722Ser)
Xg.53984996T>CCA413251943PHF8c.2058A>G (p.Arg686=)
c.2361A>G (p.Arg787=)
c.*816A>G (n.*816A>G)
c.*1803A>G (n.*1803A>G)
n.1725A>G
c.2310A>G (p.Arg770=)
c.2469A>G (p.Arg823=)
c.2072A>G
c.1651A>G
c.788A>G (p.Glu263Gly)
c.2166A>G (p.Arg722=)
Xg.53984996T>GCA413251946PHF8c.2058A>C (p.Arg686Ser)
c.2361A>C (p.Arg787Ser)
c.*816A>C (n.*816A>C)
c.*1803A>C (n.*1803A>C)
n.1725A>C
c.2310A>C (p.Arg770Ser)
c.2469A>C (p.Arg823Ser)
c.2072A>C
c.1651A>C
c.788A>C (p.Glu263Ala)
c.2166A>C (p.Arg722Ser)
Xg.53984997C>ACA413251948PHF8c.2057G>T (p.Arg686Ile)
c.2360G>T (p.Arg787Ile)
c.*815G>T (n.*815G>T)
c.*1802G>T (n.*1802G>T)
n.1724G>T
c.2309G>T (p.Arg770Ile)
c.2468G>T (p.Arg823Ile)
c.2071G>T
c.1650G>T
c.787G>T (p.Glu263Ter)
c.2165G>T (p.Arg722Ile)
Xg.53984997C>GCA413251951PHF8c.2057G>C (p.Arg686Thr)
c.2360G>C (p.Arg787Thr)
c.*815G>C (n.*815G>C)
c.*1802G>C (n.*1802G>C)
n.1724G>C
c.2309G>C (p.Arg770Thr)
c.2468G>C (p.Arg823Thr)
c.2071G>C
c.1650G>C
c.787G>C (p.Glu263Gln)
c.2165G>C (p.Arg722Thr)
Xg.53984997C>TCA413251953PHF8c.2057G>A (p.Arg686Lys)
c.2360G>A (p.Arg787Lys)
c.*815G>A (n.*815G>A)
c.*1802G>A (n.*1802G>A)
n.1724G>A
c.2309G>A (p.Arg770Lys)
c.2468G>A (p.Arg823Lys)
c.2071G>A
c.1650G>A
c.787G>A (p.Glu263Lys)
c.2165G>A (p.Arg722Lys)
Xg.53984998T>ACA413251956PHF8c.2056A>T (p.Arg686Ter)
c.2359A>T (p.Arg787Ter)
c.*814A>T (n.*814A>T)
c.*1801A>T (n.*1801A>T)
n.1723A>T
c.2308A>T (p.Arg770Ter)
c.2467A>T (p.Arg823Ter)
c.2070A>T
c.1649A>T
c.786A>T (p.Gly262=)
c.2164A>T (p.Arg722Ter)
Xg.53984998T>CCA413251958PHF8c.2056A>G (p.Arg686Gly)
c.2359A>G (p.Arg787Gly)
c.*814A>G (n.*814A>G)
c.*1801A>G (n.*1801A>G)
n.1723A>G
c.2308A>G (p.Arg770Gly)
c.2467A>G (p.Arg823Gly)
c.2070A>G
c.1649A>G
c.786A>G (p.Gly262=)
c.2164A>G (p.Arg722Gly)
Xg.53984998T>GCA516688822PHF8c.2056A>C (p.Arg686=)
c.2359A>C (p.Arg787=)
c.*814A>C (n.*814A>C)
c.*1801A>C (n.*1801A>C)
n.1723A>C
c.2308A>C (p.Arg770=)
c.2467A>C (p.Arg823=)
c.2070A>C
c.1649A>C
c.786A>C (p.Gly262=)
c.2164A>C (p.Arg722=)
Xg.53984999C>ACA413251960PHF8c.2055G>T (p.Trp685Cys)
c.2358G>T (p.Trp786Cys)
c.*813G>T (n.*813G>T)
c.*1800G>T (n.*1800G>T)
n.1722G>T
c.2307G>T (p.Trp769Cys)
c.2466G>T (p.Trp822Cys)
c.2069G>T
c.1648G>T
c.785G>T (p.Gly262Val)
c.2163G>T (p.Trp721Cys)
Xg.53984999C>GCA413251962PHF8c.2055G>C (p.Trp685Cys)
c.2358G>C (p.Trp786Cys)
c.*813G>C (n.*813G>C)
c.*1800G>C (n.*1800G>C)
n.1722G>C
c.2307G>C (p.Trp769Cys)
c.2466G>C (p.Trp822Cys)
c.2069G>C
c.1648G>C
c.785G>C (p.Gly262Ala)
c.2163G>C (p.Trp721Cys)
 COSMIC
Xg.53984999C>TCA413251964PHF8c.2055G>A (p.Trp685Ter)
c.2358G>A (p.Trp786Ter)
c.*813G>A (n.*813G>A)
c.*1800G>A (n.*1800G>A)
n.1722G>A
c.2307G>A (p.Trp769Ter)
c.2466G>A (p.Trp822Ter)
c.2069G>A
c.1648G>A
c.785G>A (p.Gly262Glu)
c.2163G>A (p.Trp721Ter)
Xg.53985000C>ACA413251971PHF8c.2054G>T (p.Trp685Leu)
c.2357G>T (p.Trp786Leu)
c.*812G>T (n.*812G>T)
c.*1799G>T (n.*1799G>T)
n.1721G>T
c.2306G>T (p.Trp769Leu)
c.2465G>T (p.Trp822Leu)
c.2068G>T
c.1647G>T
c.784G>T (p.Gly262Ter)
c.2162G>T (p.Trp721Leu)
Xg.53985000C>GCA413251968PHF8c.2054G>C (p.Trp685Ser)
c.2357G>C (p.Trp786Ser)
c.*812G>C (n.*812G>C)
c.*1799G>C (n.*1799G>C)
n.1721G>C
c.2306G>C (p.Trp769Ser)
c.2465G>C (p.Trp822Ser)
c.2068G>C
c.1647G>C
c.784G>C (p.Gly262Arg)
c.2162G>C (p.Trp721Ser)
Xg.53985000C>TCA413251967PHF8c.2054G>A (p.Trp685Ter)
c.2357G>A (p.Trp786Ter)
c.*812G>A (n.*812G>A)
c.*1799G>A (n.*1799G>A)
n.1721G>A
c.2306G>A (p.Trp769Ter)
c.2465G>A (p.Trp822Ter)
c.2068G>A
c.1647G>A
c.784G>A (p.Gly262Arg)
c.2162G>A (p.Trp721Ter)
Xg.53985001A>CCA413251974PHF8c.2053T>G (p.Trp685Gly)
c.2356T>G (p.Trp786Gly)
c.*811T>G (n.*811T>G)
c.*1798T>G (n.*1798T>G)
n.1720T>G
c.2305T>G (p.Trp769Gly)
c.2464T>G (p.Trp822Gly)
c.2067T>G
c.1646T>G
c.783T>G (p.Thr261=)
c.2161T>G (p.Trp721Gly)
 gnomAD v4
Xg.53985001A>GCA413251975PHF8c.2053T>C (p.Trp685Arg)
c.2356T>C (p.Trp786Arg)
c.*811T>C (n.*811T>C)
c.*1798T>C (n.*1798T>C)
n.1720T>C
c.2305T>C (p.Trp769Arg)
c.2464T>C (p.Trp822Arg)
c.2067T>C
c.1646T>C
c.783T>C (p.Thr261=)
c.2161T>C (p.Trp721Arg)
Xg.53985001A>TCA413251977PHF8c.2053T>A (p.Trp685Arg)
c.2356T>A (p.Trp786Arg)
c.*811T>A (n.*811T>A)
c.*1798T>A (n.*1798T>A)
n.1720T>A
c.2305T>A (p.Trp769Arg)
c.2464T>A (p.Trp822Arg)
c.2067T>A
c.1646T>A
c.783T>A (p.Thr261=)
c.2161T>A (p.Trp721Arg)
Xg.53985002G>ACA413251980PHF8c.2052C>T (p.Tyr684=)
c.2355C>T (p.Tyr785=)
c.*810C>T (n.*810C>T)
c.*1797C>T (n.*1797C>T)
n.1719C>T
c.2304C>T (p.Tyr768=)
c.2463C>T (p.Tyr821=)
c.2066C>T
c.1645C>T
c.782C>T (p.Thr261Ile)
c.2160C>T (p.Tyr720=)
 gnomAD v4
Xg.53985002G>CCA413251982PHF8c.2052C>G (p.Tyr684Ter)
c.2355C>G (p.Tyr785Ter)
c.*810C>G (n.*810C>G)
c.*1797C>G (n.*1797C>G)
n.1719C>G
c.2304C>G (p.Tyr768Ter)
c.2463C>G (p.Tyr821Ter)
c.2066C>G
c.1645C>G
c.782C>G (p.Thr261Ser)
c.2160C>G (p.Tyr720Ter)
Xg.53985002G>TCA413251984PHF8c.2052C>A (p.Tyr684Ter)
c.2355C>A (p.Tyr785Ter)
c.*810C>A (n.*810C>A)
c.*1797C>A (n.*1797C>A)
n.1719C>A
c.2304C>A (p.Tyr768Ter)
c.2463C>A (p.Tyr821Ter)
c.2066C>A
c.1645C>A
c.782C>A (p.Thr261Asn)
c.2160C>A (p.Tyr720Ter)
Xg.53985003T>ACA413251992PHF8c.2051A>T (p.Tyr684Phe)
c.2354A>T (p.Tyr785Phe)
c.*809A>T (n.*809A>T)
c.*1796A>T (n.*1796A>T)
n.1718A>T
c.2303A>T (p.Tyr768Phe)
c.2462A>T (p.Tyr821Phe)
c.2065A>T
c.1644A>T
c.781A>T (p.Thr261Ser)
c.2159A>T (p.Tyr720Phe)
Xg.53985003T>CCA413251990PHF8c.2051A>G (p.Tyr684Cys)
c.2354A>G (p.Tyr785Cys)
c.*809A>G (n.*809A>G)
c.*1796A>G (n.*1796A>G)
n.1718A>G
c.2303A>G (p.Tyr768Cys)
c.2462A>G (p.Tyr821Cys)
c.2065A>G
c.1644A>G
c.781A>G (p.Thr261Ala)
c.2159A>G (p.Tyr720Cys)
Xg.53985003T>GCA413251988PHF8c.2051A>C (p.Tyr684Ser)
c.2354A>C (p.Tyr785Ser)
c.*809A>C (n.*809A>C)
c.*1796A>C (n.*1796A>C)
n.1718A>C
c.2303A>C (p.Tyr768Ser)
c.2462A>C (p.Tyr821Ser)
c.2065A>C
c.1644A>C
c.781A>C (p.Thr261Pro)
c.2159A>C (p.Tyr720Ser)
Xg.53985004A>CCA413251995PHF8c.2050T>G (p.Tyr684Asp)
c.2353T>G (p.Tyr785Asp)
c.*808T>G (n.*808T>G)
c.*1795T>G (n.*1795T>G)
n.1717T>G
c.2302T>G (p.Tyr768Asp)
c.2461T>G (p.Tyr821Asp)
c.2064T>G
c.1643T>G
c.780T>G (p.His260Gln)
c.2158T>G (p.Tyr720Asp)
Xg.53985004A>GCA413251998PHF8c.2050T>C (p.Tyr684His)
c.2353T>C (p.Tyr785His)
c.*808T>C (n.*808T>C)
c.*1795T>C (n.*1795T>C)
n.1717T>C
c.2302T>C (p.Tyr768His)
c.2461T>C (p.Tyr821His)
c.2064T>C
c.1643T>C
c.780T>C (p.His260=)
c.2158T>C (p.Tyr720His)
Xg.53985004A>TCA413252000PHF8c.2050T>A (p.Tyr684Asn)
c.2353T>A (p.Tyr785Asn)
c.*808T>A (n.*808T>A)
c.*1795T>A (n.*1795T>A)
n.1717T>A
c.2302T>A (p.Tyr768Asn)
c.2461T>A (p.Tyr821Asn)
c.2064T>A
c.1643T>A
c.780T>A (p.His260Gln)
c.2158T>A (p.Tyr720Asn)
Xg.53985005T>ACA413252003PHF8c.2049A>T (p.Ala683=)
c.2352A>T (p.Ala784=)
c.*807A>T (n.*807A>T)
c.*1794A>T (n.*1794A>T)
n.1716A>T
c.2301A>T (p.Ala767=)
c.2460A>T (p.Ala820=)
c.2063A>T
c.1642A>T
c.779A>T (p.His260Leu)
c.2157A>T (p.Ala719=)
Xg.53985005T>CCA413252005PHF8c.2049A>G (p.Ala683=)
c.2352A>G (p.Ala784=)
c.*807A>G (n.*807A>G)
c.*1794A>G (n.*1794A>G)
n.1716A>G
c.2301A>G (p.Ala767=)
c.2460A>G (p.Ala820=)
c.2063A>G
c.1642A>G
c.779A>G (p.His260Arg)
c.2157A>G (p.Ala719=)
Xg.53985005T>GCA413252006PHF8c.2049A>C (p.Ala683=)
c.2352A>C (p.Ala784=)
c.*807A>C (n.*807A>C)
c.*1794A>C (n.*1794A>C)
n.1716A>C
c.2301A>C (p.Ala767=)
c.2460A>C (p.Ala820=)
c.2063A>C
c.1642A>C
c.779A>C (p.His260Pro)
c.2157A>C (p.Ala719=)
Xg.53985006G>ACA413252009PHF8c.2048C>T (p.Ala683Val)
c.2351C>T (p.Ala784Val)
c.*806C>T (n.*806C>T)
c.*1793C>T (n.*1793C>T)
n.1715C>T
c.2300C>T (p.Ala767Val)
c.2459C>T (p.Ala820Val)
c.2062C>T
c.1641C>T
c.778C>T (p.His260Tyr)
c.2156C>T (p.Ala719Val)
Xg.53985006G>CCA413252013PHF8c.2048C>G (p.Ala683Gly)
c.2351C>G (p.Ala784Gly)
c.*806C>G (n.*806C>G)
c.*1793C>G (n.*1793C>G)
n.1715C>G
c.2300C>G (p.Ala767Gly)
c.2459C>G (p.Ala820Gly)
c.2062C>G
c.1641C>G
c.778C>G (p.His260Asp)
c.2156C>G (p.Ala719Gly)
Xg.53985006G>TCA413252011PHF8c.2048C>A (p.Ala683Glu)
c.2351C>A (p.Ala784Glu)
c.*806C>A (n.*806C>A)
c.*1793C>A (n.*1793C>A)
n.1715C>A
c.2300C>A (p.Ala767Glu)
c.2459C>A (p.Ala820Glu)
c.2062C>A
c.1641C>A
c.778C>A (p.His260Asn)
c.2156C>A (p.Ala719Glu)
Xg.53985007C>ACA413252015PHF8c.2047G>T (p.Ala683Ser)
c.2350G>T (p.Ala784Ser)
c.*805G>T (n.*805G>T)
c.*1792G>T (n.*1792G>T)
n.1714G>T
c.2299G>T (p.Ala767Ser)
c.2458G>T (p.Ala820Ser)
c.2061G>T
c.1640G>T
c.777G>T (p.Gln259His)
c.2155G>T (p.Ala719Ser)
 dbSNP
Xg.53985007C=CA2430030665PHF8c.2047G= (p.Ala683=)
c.2350G= (p.Ala784=)
c.*805G= (n.*805G=)
c.*1792G= (n.*1792G=)
n.1714G=
c.2299G= (p.Ala767=)
c.2458G= (p.Ala820=)
c.2061G=
c.1640G=
c.777G= (p.Gln259=)
c.2155G= (p.Ala719=)
Xg.53985007C>GCA413252017PHF8c.2047G>C (p.Ala683Pro)
c.2350G>C (p.Ala784Pro)
c.*805G>C (n.*805G>C)
c.*1792G>C (n.*1792G>C)
n.1714G>C
c.2299G>C (p.Ala767Pro)
c.2458G>C (p.Ala820Pro)
c.2061G>C
c.1640G>C
c.777G>C (p.Gln259His)
c.2155G>C (p.Ala719Pro)
Xg.53985007C>TCA413252019PHF8c.2047G>A (p.Ala683Thr)
c.2350G>A (p.Ala784Thr)
c.*805G>A (n.*805G>A)
c.*1792G>A (n.*1792G>A)
n.1714G>A
c.2299G>A (p.Ala767Thr)
c.2458G>A (p.Ala820Thr)
c.2061G>A
c.1640G>A
c.777G>A (p.Gln259=)
c.2155G>A (p.Ala719Thr)
Xg.53985008T>ACA413252021PHF8c.2046A>T (p.Pro682=)
c.2349A>T (p.Pro783=)
c.*804A>T (n.*804A>T)
c.*1791A>T (n.*1791A>T)
n.1713A>T
c.2298A>T (p.Pro766=)
c.2457A>T (p.Pro819=)
c.2060A>T
c.1639A>T
c.776A>T (p.Gln259Leu)
c.2154A>T (p.Pro718=)
Xg.53985008T>CCA413252023PHF8c.2046A>G (p.Pro682=)
c.2349A>G (p.Pro783=)
c.*804A>G (n.*804A>G)
c.*1791A>G (n.*1791A>G)
n.1713A>G
c.2298A>G (p.Pro766=)
c.2457A>G (p.Pro819=)
c.2060A>G
c.1639A>G
c.776A>G (p.Gln259Arg)
c.2154A>G (p.Pro718=)
 gnomAD v4
Xg.53985008T>GCA413252025PHF8c.2046A>C (p.Pro682=)
c.2349A>C (p.Pro783=)
c.*804A>C (n.*804A>C)
c.*1791A>C (n.*1791A>C)
n.1713A>C
c.2298A>C (p.Pro766=)
c.2457A>C (p.Pro819=)
c.2060A>C
c.1639A>C
c.776A>C (p.Gln259Pro)
c.2154A>C (p.Pro718=)
Xg.53985009G>ACA413252028PHF8c.2045C>T (p.Pro682Leu)
c.2348C>T (p.Pro783Leu)
c.*803C>T (n.*803C>T)
c.*1790C>T (n.*1790C>T)
n.1712C>T
c.2297C>T (p.Pro766Leu)
c.2456C>T (p.Pro819Leu)
c.2059C>T
c.1638C>T
c.775C>T (p.Gln259Ter)
c.2153C>T (p.Pro718Leu)
 dbSNP gnomAD v2
Xg.53985009G>CCA413252031PHF8c.2045C>G (p.Pro682Arg)
c.2348C>G (p.Pro783Arg)
c.*803C>G (n.*803C>G)
c.*1790C>G (n.*1790C>G)
n.1712C>G
c.2297C>G (p.Pro766Arg)
c.2456C>G (p.Pro819Arg)
c.2059C>G
c.1638C>G
c.775C>G (p.Gln259Glu)
c.2153C>G (p.Pro718Arg)
Xg.53985009G=CA2430030666PHF8c.2045C= (p.Pro682=)
c.2348C= (p.Pro783=)
c.*803C= (n.*803C=)
c.*1790C= (n.*1790C=)
n.1712C=
c.2297C= (p.Pro766=)
c.2456C= (p.Pro819=)
c.2059C=
c.1638C=
c.775C= (p.Gln259=)
c.2153C= (p.Pro718=)
Xg.53985009G>TCA10423304PHF8c.2045C>A (p.Pro682Gln)
c.2348C>A (p.Pro783Gln)
c.*803C>A (n.*803C>A)
c.*1790C>A (n.*1790C>A)
n.1712C>A
c.2297C>A (p.Pro766Gln)
c.2456C>A (p.Pro819Gln)
c.2059C>A
c.1638C>A
c.775C>A (p.Gln259Lys)
c.2153C>A (p.Pro718Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53985017_53985028delCA2693828082PHF8c.2034_2045del (p.Ile679_Pro682del)
c.2337_2348del (p.Ile780_Pro783del)
c.*792_*803del (n.*792_*803del)
c.*1779_*1790del (n.*1779_*1790del)
n.1701_1712del
c.2286_2297del (p.Ile763_Pro766del)
c.2445_2456del (p.Ile816_Pro819del)
c.2048_2059del
c.1627_1638del
c.764_775del (p.Pro255_Gly258del)
c.2142_2153del (p.Ile715_Pro718del)
 gnomAD v4
Xg.53985010G>ACA329924347PHF8c.2044C>T (p.Pro682Ser)
c.2347C>T (p.Pro783Ser)
c.*802C>T (n.*802C>T)
c.*1789C>T (n.*1789C>T)
n.1711C>T
c.2296C>T (p.Pro766Ser)
c.2455C>T (p.Pro819Ser)
c.2058C>T
c.1637C>T
c.774C>T (p.Gly258=)
c.2152C>T (p.Pro718Ser)
 dbSNP
Xg.53985010G>CCA413252037PHF8c.2044C>G (p.Pro682Ala)
c.2347C>G (p.Pro783Ala)
c.*802C>G (n.*802C>G)
c.*1789C>G (n.*1789C>G)
n.1711C>G
c.2296C>G (p.Pro766Ala)
c.2455C>G (p.Pro819Ala)
c.2058C>G
c.1637C>G
c.774C>G (p.Gly258=)
c.2152C>G (p.Pro718Ala)
Xg.53985010G=CA2430030667PHF8c.2044C= (p.Pro682=)
c.2347C= (p.Pro783=)
c.*802C= (n.*802C=)
c.*1789C= (n.*1789C=)
n.1711C=
c.2296C= (p.Pro766=)
c.2455C= (p.Pro819=)
c.2058C=
c.1637C=
c.774C= (p.Gly258=)
c.2152C= (p.Pro718=)
Xg.53985010G>TCA413252038PHF8c.2044C>A (p.Pro682Thr)
c.2347C>A (p.Pro783Thr)
c.*802C>A (n.*802C>A)
c.*1789C>A (n.*1789C>A)
n.1711C>A
c.2296C>A (p.Pro766Thr)
c.2455C>A (p.Pro819Thr)
c.2058C>A
c.1637C>A
c.774C>A (p.Gly258=)
c.2152C>A (p.Pro718Thr)
Xg.53985011C>ACA413252042PHF8c.2043G>T (p.Arg681=)
c.2346G>T (p.Arg782=)
c.*801G>T (n.*801G>T)
c.*1788G>T (n.*1788G>T)
n.1710G>T
c.2295G>T (p.Arg765=)
c.2454G>T (p.Arg818=)
c.2057G>T
c.1636G>T
c.773G>T (p.Gly258Val)
c.2151G>T (p.Arg717=)
 gnomAD v4
Xg.53985011C>GCA413252047PHF8c.2043G>C (p.Arg681=)
c.2346G>C (p.Arg782=)
c.*801G>C (n.*801G>C)
c.*1788G>C (n.*1788G>C)
n.1710G>C
c.2295G>C (p.Arg765=)
c.2454G>C (p.Arg818=)
c.2057G>C
c.1636G>C
c.773G>C (p.Gly258Ala)
c.2151G>C (p.Arg717=)
Xg.53985011C>TCA413252044PHF8c.2043G>A (p.Arg681=)
c.2346G>A (p.Arg782=)
c.*801G>A (n.*801G>A)
c.*1788G>A (n.*1788G>A)
n.1710G>A
c.2295G>A (p.Arg765=)
c.2454G>A (p.Arg818=)
c.2057G>A
c.1636G>A
c.773G>A (p.Gly258Asp)
c.2151G>A (p.Arg717=)
Xg.53985012C>ACA413252050PHF8c.2042G>T (p.Arg681Leu)
c.2345G>T (p.Arg782Leu)
c.*800G>T (n.*800G>T)
c.*1787G>T (n.*1787G>T)
n.1709G>T
c.2294G>T (p.Arg765Leu)
c.2453G>T (p.Arg818Leu)
c.2056G>T
c.1635G>T
c.772G>T (p.Gly258Cys)
c.2150G>T (p.Arg717Leu)
Xg.53985012C=CA2430030668PHF8c.2042G= (p.Arg681=)
c.2345G= (p.Arg782=)
c.*800G= (n.*800G=)
c.*1787G= (n.*1787G=)
n.1709G=
c.2294G= (p.Arg765=)
c.2453G= (p.Arg818=)
c.2056G=
c.1635G=
c.772G= (p.Gly258=)
c.2150G= (p.Arg717=)
Xg.53985012C>GCA413252052PHF8c.2042G>C (p.Arg681Pro)
c.2345G>C (p.Arg782Pro)
c.*800G>C (n.*800G>C)
c.*1787G>C (n.*1787G>C)
n.1709G>C
c.2294G>C (p.Arg765Pro)
c.2453G>C (p.Arg818Pro)
c.2056G>C
c.1635G>C
c.772G>C (p.Gly258Arg)
c.2150G>C (p.Arg717Pro)
 ClinVar dbSNP gnomAD v4
Xg.53985012C>TCA10423305PHF8c.2042G>A (p.Arg681Gln)
c.2345G>A (p.Arg782Gln)
c.*800G>A (n.*800G>A)
c.*1787G>A (n.*1787G>A)
n.1709G>A
c.2294G>A (p.Arg765Gln)
c.2453G>A (p.Arg818Gln)
c.2056G>A
c.1635G>A
c.772G>A (p.Gly258Ser)
c.2150G>A (p.Arg717Gln)
 ClinVar dbSNP ExAC gnomAD v4
Xg.53985013G>ACA413252057PHF8c.2041C>T (p.Arg681Trp)
c.2344C>T (p.Arg782Trp)
c.*799C>T (n.*799C>T)
c.*1786C>T (n.*1786C>T)
n.1708C>T
c.2293C>T (p.Arg765Trp)
c.2452C>T (p.Arg818Trp)
c.2055C>T
c.1634C>T
c.771C>T (p.Ser257=)
c.2149C>T (p.Arg717Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985013G>CCA413252059PHF8c.2041C>G (p.Arg681Gly)
c.2344C>G (p.Arg782Gly)
c.*799C>G (n.*799C>G)
c.*1786C>G (n.*1786C>G)
n.1708C>G
c.2293C>G (p.Arg765Gly)
c.2452C>G (p.Arg818Gly)
c.2055C>G
c.1634C>G
c.771C>G (p.Ser257Arg)
c.2149C>G (p.Arg717Gly)
Xg.53985013G=CA2430030669PHF8c.2041C= (p.Arg681=)
c.2344C= (p.Arg782=)
c.*799C= (n.*799C=)
c.*1786C= (n.*1786C=)
n.1708C=
c.2293C= (p.Arg765=)
c.2452C= (p.Arg818=)
c.2055C=
c.1634C=
c.771C= (p.Ser257=)
c.2149C= (p.Arg717=)
Xg.53985013G>TCA413252060PHF8c.2041C>A (p.Arg681=)
c.2344C>A (p.Arg782=)
c.*799C>A (n.*799C>A)
c.*1786C>A (n.*1786C>A)
n.1708C>A
c.2293C>A (p.Arg765=)
c.2452C>A (p.Arg818=)
c.2055C>A
c.1634C>A
c.771C>A (p.Ser257Arg)
c.2149C>A (p.Arg717=)
 dbSNP
Xg.53985014C>ACA413252062PHF8c.2040G>T (p.Lys680Asn)
c.2343G>T (p.Lys781Asn)
c.*798G>T (n.*798G>T)
c.*1785G>T (n.*1785G>T)
n.1707G>T
c.2292G>T (p.Lys764Asn)
c.2451G>T (p.Lys817Asn)
c.2054G>T
c.1633G>T
c.770G>T (p.Ser257Ile)
c.2148G>T (p.Lys716Asn)
Xg.53985014C>GCA413252064PHF8c.2040G>C (p.Lys680Asn)
c.2343G>C (p.Lys781Asn)
c.*798G>C (n.*798G>C)
c.*1785G>C (n.*1785G>C)
n.1707G>C
c.2292G>C (p.Lys764Asn)
c.2451G>C (p.Lys817Asn)
c.2054G>C
c.1633G>C
c.770G>C (p.Ser257Thr)
c.2148G>C (p.Lys716Asn)
Xg.53985014C>TCA413252067PHF8c.2040G>A (p.Lys680=)
c.2343G>A (p.Lys781=)
c.*798G>A (n.*798G>A)
c.*1785G>A (n.*1785G>A)
n.1707G>A
c.2292G>A (p.Lys764=)
c.2451G>A (p.Lys817=)
c.2054G>A
c.1633G>A
c.770G>A (p.Ser257Asn)
c.2148G>A (p.Lys716=)
Xg.53985015T>ACA413252069PHF8c.2039A>T (p.Lys680Met)
c.2342A>T (p.Lys781Met)
c.*797A>T (n.*797A>T)
c.*1784A>T (n.*1784A>T)
n.1706A>T
c.2291A>T (p.Lys764Met)
c.2450A>T (p.Lys817Met)
c.2053A>T
c.1632A>T
c.769A>T (p.Ser257Cys)
c.2147A>T (p.Lys716Met)
Xg.53985015T>CCA413252070PHF8c.2039A>G (p.Lys680Arg)
c.2342A>G (p.Lys781Arg)
c.*797A>G (n.*797A>G)
c.*1784A>G (n.*1784A>G)
n.1706A>G
c.2291A>G (p.Lys764Arg)
c.2450A>G (p.Lys817Arg)
c.2053A>G
c.1632A>G
c.769A>G (p.Ser257Gly)
c.2147A>G (p.Lys716Arg)
Xg.53985015T>GCA413252071PHF8c.2039A>C (p.Lys680Thr)
c.2342A>C (p.Lys781Thr)
c.*797A>C (n.*797A>C)
c.*1784A>C (n.*1784A>C)
n.1706A>C
c.2291A>C (p.Lys764Thr)
c.2450A>C (p.Lys817Thr)
c.2053A>C
c.1632A>C
c.769A>C (p.Ser257Arg)
c.2147A>C (p.Lys716Thr)
Xg.53985016T>ACA413252074PHF8c.2038A>T (p.Lys680Ter)
c.2341A>T (p.Lys781Ter)
c.*796A>T (n.*796A>T)
c.*1783A>T (n.*1783A>T)
n.1705A>T
c.2290A>T (p.Lys764Ter)
c.2449A>T (p.Lys817Ter)
c.2052A>T
c.1631A>T
c.768A>T (p.Ser256=)
c.2146A>T (p.Lys716Ter)
Xg.53985016T>CCA413252073PHF8c.2038A>G (p.Lys680Glu)
c.2341A>G (p.Lys781Glu)
c.*796A>G (n.*796A>G)
c.*1783A>G (n.*1783A>G)
n.1705A>G
c.2290A>G (p.Lys764Glu)
c.2449A>G (p.Lys817Glu)
c.2052A>G
c.1631A>G
c.768A>G (p.Ser256=)
c.2146A>G (p.Lys716Glu)
Xg.53985016T>GCA413252072PHF8c.2038A>C (p.Lys680Gln)
c.2341A>C (p.Lys781Gln)
c.*796A>C (n.*796A>C)
c.*1783A>C (n.*1783A>C)
n.1705A>C
c.2290A>C (p.Lys764Gln)
c.2449A>C (p.Lys817Gln)
c.2052A>C
c.1631A>C
c.768A>C (p.Ser256=)
c.2146A>C (p.Lys716Gln)
Xg.53985017G>ACA413252076PHF8c.2037C>T (p.Ile679=)
c.2340C>T (p.Ile780=)
c.*795C>T (n.*795C>T)
c.*1782C>T (n.*1782C>T)
n.1704C>T
c.2289C>T (p.Ile763=)
c.2448C>T (p.Ile816=)
c.2051C>T
c.1630C>T
c.767C>T (p.Ser256Leu)
c.2145C>T (p.Ile715=)
 gnomAD v4
Xg.53985017G>CCA413252078PHF8c.2037C>G (p.Ile679Met)
c.2340C>G (p.Ile780Met)
c.*795C>G (n.*795C>G)
c.*1782C>G (n.*1782C>G)
n.1704C>G
c.2289C>G (p.Ile763Met)
c.2448C>G (p.Ile816Met)
c.2051C>G
c.1630C>G
c.767C>G (p.Ser256Ter)
c.2145C>G (p.Ile715Met)
Xg.53985017G>TCA413252080PHF8c.2037C>A (p.Ile679=)
c.2340C>A (p.Ile780=)
c.*795C>A (n.*795C>A)
c.*1782C>A (n.*1782C>A)
n.1704C>A
c.2289C>A (p.Ile763=)
c.2448C>A (p.Ile816=)
c.2051C>A
c.1630C>A
c.767C>A (p.Ser256Ter)
c.2145C>A (p.Ile715=)
Xg.53985018A>CCA413252081PHF8c.2036T>G (p.Ile679Ser)
c.2339T>G (p.Ile780Ser)
c.*794T>G (n.*794T>G)
c.*1781T>G (n.*1781T>G)
n.1703T>G
c.2288T>G (p.Ile763Ser)
c.2447T>G (p.Ile816Ser)
c.2050T>G
c.1629T>G
c.766T>G (p.Ser256Ala)
c.2144T>G (p.Ile715Ser)
Xg.53985018A>GCA413252082PHF8c.2036T>C (p.Ile679Thr)
c.2339T>C (p.Ile780Thr)
c.*794T>C (n.*794T>C)
c.*1781T>C (n.*1781T>C)
n.1703T>C
c.2288T>C (p.Ile763Thr)
c.2447T>C (p.Ile816Thr)
c.2050T>C
c.1629T>C
c.766T>C (p.Ser256Pro)
c.2144T>C (p.Ile715Thr)
Xg.53985018A>TCA413252083PHF8c.2036T>A (p.Ile679Asn)
c.2339T>A (p.Ile780Asn)
c.*794T>A (n.*794T>A)
c.*1781T>A (n.*1781T>A)
n.1703T>A
c.2288T>A (p.Ile763Asn)
c.2447T>A (p.Ile816Asn)
c.2050T>A
c.1629T>A
c.766T>A (p.Ser256Thr)
c.2144T>A (p.Ile715Asn)
Xg.53985019T>ACA413252086PHF8c.2035A>T (p.Ile679Phe)
c.2338A>T (p.Ile780Phe)
c.*793A>T (n.*793A>T)
c.*1780A>T (n.*1780A>T)
n.1702A>T
c.2287A>T (p.Ile763Phe)
c.2446A>T (p.Ile816Phe)
c.2049A>T
c.1628A>T
c.765A>T (p.Pro255=)
c.2143A>T (p.Ile715Phe)
 dbSNP
Xg.53985019T>CCA413252092PHF8c.2035A>G (p.Ile679Val)
c.2338A>G (p.Ile780Val)
c.*793A>G (n.*793A>G)
c.*1780A>G (n.*1780A>G)
n.1702A>G
c.2287A>G (p.Ile763Val)
c.2446A>G (p.Ile816Val)
c.2049A>G
c.1628A>G
c.765A>G (p.Pro255=)
c.2143A>G (p.Ile715Val)
 dbSNP gnomAD v4
Xg.53985019T>GCA413252094PHF8c.2035A>C (p.Ile679Leu)
c.2338A>C (p.Ile780Leu)
c.*793A>C (n.*793A>C)
c.*1780A>C (n.*1780A>C)
n.1702A>C
c.2287A>C (p.Ile763Leu)
c.2446A>C (p.Ile816Leu)
c.2049A>C
c.1628A>C
c.765A>C (p.Pro255=)
c.2143A>C (p.Ile715Leu)
Xg.53985020G>ACA413252097PHF8c.2034C>T (p.Pro678=)
c.2337C>T (p.Pro779=)
c.*792C>T (n.*792C>T)
c.*1779C>T (n.*1779C>T)
n.1701C>T
c.2286C>T (p.Pro762=)
c.2445C>T (p.Pro815=)
c.2048C>T
c.1627C>T
c.764C>T (p.Pro255Leu)
c.2142C>T (p.Pro714=)
 gnomAD v4
Xg.53985020G>CCA413252099PHF8c.2034C>G (p.Pro678=)
c.2337C>G (p.Pro779=)
c.*792C>G (n.*792C>G)
c.*1779C>G (n.*1779C>G)
n.1701C>G
c.2286C>G (p.Pro762=)
c.2445C>G (p.Pro815=)
c.2048C>G
c.1627C>G
c.764C>G (p.Pro255Arg)
c.2142C>G (p.Pro714=)
Xg.53985020G>TCA413252101PHF8c.2034C>A (p.Pro678=)
c.2337C>A (p.Pro779=)
c.*792C>A (n.*792C>A)
c.*1779C>A (n.*1779C>A)
n.1701C>A
c.2286C>A (p.Pro762=)
c.2445C>A (p.Pro815=)
c.2048C>A
c.1627C>A
c.764C>A (p.Pro255Gln)
c.2142C>A (p.Pro714=)
Xg.53985021G>ACA413252104PHF8c.2033C>T (p.Pro678Leu)
c.2336C>T (p.Pro779Leu)
c.*791C>T (n.*791C>T)
c.*1778C>T (n.*1778C>T)
n.1700C>T
c.2285C>T (p.Pro762Leu)
c.2444C>T (p.Pro815Leu)
c.2047C>T
c.1626C>T
c.763C>T (p.Pro255Ser)
c.2141C>T (p.Pro714Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.53985021G>CCA413252107PHF8c.2033C>G (p.Pro678Arg)
c.2336C>G (p.Pro779Arg)
c.*791C>G (n.*791C>G)
c.*1778C>G (n.*1778C>G)
n.1700C>G
c.2285C>G (p.Pro762Arg)
c.2444C>G (p.Pro815Arg)
c.2047C>G
c.1626C>G
c.763C>G (p.Pro255Ala)
c.2141C>G (p.Pro714Arg)
Xg.53985021G=CA2430030670PHF8c.2033C= (p.Pro678=)
c.2336C= (p.Pro779=)
c.*791C= (n.*791C=)
c.*1778C= (n.*1778C=)
n.1700C=
c.2285C= (p.Pro762=)
c.2444C= (p.Pro815=)
c.2047C=
c.1626C=
c.763C= (p.Pro255=)
c.2141C= (p.Pro714=)
Xg.53985021G>TCA413252105PHF8c.2033C>A (p.Pro678His)
c.2336C>A (p.Pro779His)
c.*791C>A (n.*791C>A)
c.*1778C>A (n.*1778C>A)
n.1700C>A
c.2285C>A (p.Pro762His)
c.2444C>A (p.Pro815His)
c.2047C>A
c.1626C>A
c.763C>A (p.Pro255Thr)
c.2141C>A (p.Pro714His)
Xg.53985022G>ACA413252115PHF8c.2032C>T (p.Pro678Ser)
c.2335C>T (p.Pro779Ser)
c.*790C>T (n.*790C>T)
c.*1777C>T (n.*1777C>T)
n.1699C>T
c.2284C>T (p.Pro762Ser)
c.2443C>T (p.Pro815Ser)
c.2046C>T
c.1625C>T
c.762C>T (p.Gly254=)
c.2140C>T (p.Pro714Ser)
Xg.53985022G>CCA413252120PHF8c.2032C>G (p.Pro678Ala)
c.2335C>G (p.Pro779Ala)
c.*790C>G (n.*790C>G)
c.*1777C>G (n.*1777C>G)
n.1699C>G
c.2284C>G (p.Pro762Ala)
c.2443C>G (p.Pro815Ala)
c.2046C>G
c.1625C>G
c.762C>G (p.Gly254=)
c.2140C>G (p.Pro714Ala)
Xg.53985022G>TCA413252117PHF8c.2032C>A (p.Pro678Thr)
c.2335C>A (p.Pro779Thr)
c.*790C>A (n.*790C>A)
c.*1777C>A (n.*1777C>A)
n.1699C>A
c.2284C>A (p.Pro762Thr)
c.2443C>A (p.Pro815Thr)
c.2046C>A
c.1625C>A
c.762C>A (p.Gly254=)
c.2140C>A (p.Pro714Thr)
Xg.53985023C>ACA413252122PHF8c.2031G>T (p.Arg677=)
c.2334G>T (p.Arg778=)
c.*789G>T (n.*789G>T)
c.*1776G>T (n.*1776G>T)
n.1698G>T
c.2283G>T (p.Arg761=)
c.2442G>T (p.Arg814=)
c.2045G>T
c.1624G>T
c.761G>T (p.Gly254Val)
c.2139G>T (p.Arg713=)
Xg.53985023C=CA2430030671PHF8c.2031G= (p.Arg677=)
c.2334G= (p.Arg778=)
c.*789G= (n.*789G=)
c.*1776G= (n.*1776G=)
n.1698G=
c.2283G= (p.Arg761=)
c.2442G= (p.Arg814=)
c.2045G=
c.1624G=
c.761G= (p.Gly254=)
c.2139G= (p.Arg713=)
Xg.53985023C>GCA413252125PHF8c.2031G>C (p.Arg677=)
c.2334G>C (p.Arg778=)
c.*789G>C (n.*789G>C)
c.*1776G>C (n.*1776G>C)
n.1698G>C
c.2283G>C (p.Arg761=)
c.2442G>C (p.Arg814=)
c.2045G>C
c.1624G>C
c.761G>C (p.Gly254Ala)
c.2139G>C (p.Arg713=)
Xg.53985023C>TCA10423306PHF8c.2031G>A (p.Arg677=)
c.2334G>A (p.Arg778=)
c.*789G>A (n.*789G>A)
c.*1776G>A (n.*1776G>A)
n.1698G>A
c.2283G>A (p.Arg761=)
c.2442G>A (p.Arg814=)
c.2045G>A
c.1624G>A
c.761G>A (p.Gly254Asp)
c.2139G>A (p.Arg713=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985024C>ACA413252129PHF8c.2030G>T (p.Arg677Leu)
c.2333G>T (p.Arg778Leu)
c.*788G>T (n.*788G>T)
c.*1775G>T (n.*1775G>T)
n.1697G>T
c.2282G>T (p.Arg761Leu)
c.2441G>T (p.Arg814Leu)
c.2044G>T
c.1623G>T
c.760G>T (p.Gly254Cys)
c.2138G>T (p.Arg713Leu)
Xg.53985024C=CA2430030672PHF8c.2030G= (p.Arg677=)
c.2333G= (p.Arg778=)
c.*788G= (n.*788G=)
c.*1775G= (n.*1775G=)
n.1697G=
c.2282G= (p.Arg761=)
c.2441G= (p.Arg814=)
c.2044G=
c.1623G=
c.760G= (p.Gly254=)
c.2138G= (p.Arg713=)
Xg.53985024C>GCA413252131PHF8c.2030G>C (p.Arg677Pro)
c.2333G>C (p.Arg778Pro)
c.*788G>C (n.*788G>C)
c.*1775G>C (n.*1775G>C)
n.1697G>C
c.2282G>C (p.Arg761Pro)
c.2441G>C (p.Arg814Pro)
c.2044G>C
c.1623G>C
c.760G>C (p.Gly254Arg)
c.2138G>C (p.Arg713Pro)
Xg.53985024C>TCA10423307PHF8c.2030G>A (p.Arg677Gln)
c.2333G>A (p.Arg778Gln)
c.*788G>A (n.*788G>A)
c.*1775G>A (n.*1775G>A)
n.1697G>A
c.2282G>A (p.Arg761Gln)
c.2441G>A (p.Arg814Gln)
c.2044G>A
c.1623G>A
c.760G>A (p.Gly254Ser)
c.2138G>A (p.Arg713Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53985025G>ACA329924348PHF8c.2029C>T (p.Arg677Trp)
c.2332C>T (p.Arg778Trp)
c.*787C>T (n.*787C>T)
c.*1774C>T (n.*1774C>T)
n.1696C>T
c.2281C>T (p.Arg761Trp)
c.2440C>T (p.Arg814Trp)
c.2043C>T
c.1622C>T
c.759C>T (p.Ser253=)
c.2137C>T (p.Arg713Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985025G>CCA413252137PHF8c.2029C>G (p.Arg677Gly)
c.2332C>G (p.Arg778Gly)
c.*787C>G (n.*787C>G)
c.*1774C>G (n.*1774C>G)
n.1696C>G
c.2281C>G (p.Arg761Gly)
c.2440C>G (p.Arg814Gly)
c.2043C>G
c.1622C>G
c.759C>G (p.Ser253Arg)
c.2137C>G (p.Arg713Gly)
Xg.53985025G=CA2430030673PHF8c.2029C= (p.Arg677=)
c.2332C= (p.Arg778=)
c.*787C= (n.*787C=)
c.*1774C= (n.*1774C=)
n.1696C=
c.2281C= (p.Arg761=)
c.2440C= (p.Arg814=)
c.2043C=
c.1622C=
c.759C= (p.Ser253=)
c.2137C= (p.Arg713=)
Xg.53985025G>TCA413252140PHF8c.2029C>A (p.Arg677=)
c.2332C>A (p.Arg778=)
c.*787C>A (n.*787C>A)
c.*1774C>A (n.*1774C>A)
n.1696C>A
c.2281C>A (p.Arg761=)
c.2440C>A (p.Arg814=)
c.2043C>A
c.1622C>A
c.759C>A (p.Ser253Arg)
c.2137C>A (p.Arg713=)
Xg.53985026C>ACA413252143PHF8c.2028G>T (p.Lys676Asn)
c.2331G>T (p.Lys777Asn)
c.*786G>T (n.*786G>T)
c.*1773G>T (n.*1773G>T)
n.1695G>T
c.2280G>T (p.Lys760Asn)
c.2439G>T (p.Lys813Asn)
c.2042G>T
c.1621G>T
c.758G>T (p.Ser253Ile)
c.2136G>T (p.Lys712Asn)
Xg.53985026C>GCA413252146PHF8c.2028G>C (p.Lys676Asn)
c.2331G>C (p.Lys777Asn)
c.*786G>C (n.*786G>C)
c.*1773G>C (n.*1773G>C)
n.1695G>C
c.2280G>C (p.Lys760Asn)
c.2439G>C (p.Lys813Asn)
c.2042G>C
c.1621G>C
c.758G>C (p.Ser253Thr)
c.2136G>C (p.Lys712Asn)
Xg.53985026C>TCA413252148PHF8c.2028G>A (p.Lys676=)
c.2331G>A (p.Lys777=)
c.*786G>A (n.*786G>A)
c.*1773G>A (n.*1773G>A)
n.1695G>A
c.2280G>A (p.Lys760=)
c.2439G>A (p.Lys813=)
c.2042G>A
c.1621G>A
c.758G>A (p.Ser253Asn)
c.2136G>A (p.Lys712=)
 gnomAD v4
Xg.53985027T>ACA413252149PHF8c.2027A>T (p.Lys676Met)
c.2330A>T (p.Lys777Met)
c.*785A>T (n.*785A>T)
c.*1772A>T (n.*1772A>T)
n.1694A>T
c.2279A>T (p.Lys760Met)
c.2438A>T (p.Lys813Met)
c.2041A>T
c.1620A>T
c.757A>T (p.Ser253Cys)
c.2135A>T (p.Lys712Met)
Xg.53985027T>CCA413252150PHF8c.2027A>G (p.Lys676Arg)
c.2330A>G (p.Lys777Arg)
c.*785A>G (n.*785A>G)
c.*1772A>G (n.*1772A>G)
n.1694A>G
c.2279A>G (p.Lys760Arg)
c.2438A>G (p.Lys813Arg)
c.2041A>G
c.1620A>G
c.757A>G (p.Ser253Gly)
c.2135A>G (p.Lys712Arg)
Xg.53985027T>GCA413252151PHF8c.2027A>C (p.Lys676Thr)
c.2330A>C (p.Lys777Thr)
c.*785A>C (n.*785A>C)
c.*1772A>C (n.*1772A>C)
n.1694A>C
c.2279A>C (p.Lys760Thr)
c.2438A>C (p.Lys813Thr)
c.2041A>C
c.1620A>C
c.757A>C (p.Ser253Arg)
c.2135A>C (p.Lys712Thr)
Xg.53985028T>ACA413252157PHF8c.2026A>T (p.Lys676Ter)
c.2329A>T (p.Lys777Ter)
c.*784A>T (n.*784A>T)
c.*1771A>T (n.*1771A>T)
n.1693A>T
c.2278A>T (p.Lys760Ter)
c.2437A>T (p.Lys813Ter)
c.2040A>T
c.1619A>T
c.756A>T (p.Gly252=)
c.2134A>T (p.Lys712Ter)
Xg.53985028T>CCA413252153PHF8c.2026A>G (p.Lys676Glu)
c.2329A>G (p.Lys777Glu)
c.*784A>G (n.*784A>G)
c.*1771A>G (n.*1771A>G)
n.1693A>G
c.2278A>G (p.Lys760Glu)
c.2437A>G (p.Lys813Glu)
c.2040A>G
c.1619A>G
c.756A>G (p.Gly252=)
c.2134A>G (p.Lys712Glu)
Xg.53985028T>GCA413252155PHF8c.2026A>C (p.Lys676Gln)
c.2329A>C (p.Lys777Gln)
c.*784A>C (n.*784A>C)
c.*1771A>C (n.*1771A>C)
n.1693A>C
c.2278A>C (p.Lys760Gln)
c.2437A>C (p.Lys813Gln)
c.2040A>C
c.1619A>C
c.756A>C (p.Gly252=)
c.2134A>C (p.Lys712Gln)
Xg.53985029C>ACA413252160PHF8c.2025G>T (p.Gly675=)
c.2328G>T (p.Gly776=)
c.*783G>T (n.*783G>T)
c.*1770G>T (n.*1770G>T)
n.1692G>T
c.2277G>T (p.Gly759=)
c.2436G>T (p.Gly812=)
c.2039G>T
c.1618G>T
c.755G>T (p.Gly252Val)
c.2133G>T (p.Gly711=)
Xg.53985029C>GCA413252162PHF8c.2025G>C (p.Gly675=)
c.2328G>C (p.Gly776=)
c.*783G>C (n.*783G>C)
c.*1770G>C (n.*1770G>C)
n.1692G>C
c.2277G>C (p.Gly759=)
c.2436G>C (p.Gly812=)
c.2039G>C
c.1618G>C
c.755G>C (p.Gly252Ala)
c.2133G>C (p.Gly711=)
Xg.53985029C>TCA413252165PHF8c.2025G>A (p.Gly675=)
c.2328G>A (p.Gly776=)
c.*783G>A (n.*783G>A)
c.*1770G>A (n.*1770G>A)
n.1692G>A
c.2277G>A (p.Gly759=)
c.2436G>A (p.Gly812=)
c.2039G>A
c.1618G>A
c.755G>A (p.Gly252Glu)
c.2133G>A (p.Gly711=)
Xg.53985030C>ACA413252168PHF8c.2024G>T (p.Gly675Val)
c.2327G>T (p.Gly776Val)
c.*782G>T (n.*782G>T)
c.*1769G>T (n.*1769G>T)
n.1691G>T
c.2276G>T (p.Gly759Val)
c.2435G>T (p.Gly812Val)
c.2038G>T
c.1617G>T
c.754G>T (p.Gly252Ter)
c.2132G>T (p.Gly711Val)
Xg.53985030C>GCA413252170PHF8c.2024G>C (p.Gly675Ala)
c.2327G>C (p.Gly776Ala)
c.*782G>C (n.*782G>C)
c.*1769G>C (n.*1769G>C)
n.1691G>C
c.2276G>C (p.Gly759Ala)
c.2435G>C (p.Gly812Ala)
c.2038G>C
c.1617G>C
c.754G>C (p.Gly252Arg)
c.2132G>C (p.Gly711Ala)
Xg.53985030C>TCA413252172PHF8c.2024G>A (p.Gly675Glu)
c.2327G>A (p.Gly776Glu)
c.*782G>A (n.*782G>A)
c.*1769G>A (n.*1769G>A)
n.1691G>A
c.2276G>A (p.Gly759Glu)
c.2435G>A (p.Gly812Glu)
c.2038G>A
c.1617G>A
c.754G>A (p.Gly252Arg)
c.2132G>A (p.Gly711Glu)
 gnomAD v4
Xg.53985031C>ACA413252175PHF8c.2023G>T (p.Gly675Trp)
c.2326G>T (p.Gly776Trp)
c.*781G>T (n.*781G>T)
c.*1768G>T (n.*1768G>T)
n.1690G>T
c.2275G>T (p.Gly759Trp)
c.2434G>T (p.Gly812Trp)
c.2037G>T
c.1616G>T
c.753G>T (p.Gln251His)
c.2131G>T (p.Gly711Trp)
Xg.53985031C>GCA413252176PHF8c.2023G>C (p.Gly675Arg)
c.2326G>C (p.Gly776Arg)
c.*781G>C (n.*781G>C)
c.*1768G>C (n.*1768G>C)
n.1690G>C
c.2275G>C (p.Gly759Arg)
c.2434G>C (p.Gly812Arg)
c.2037G>C
c.1616G>C
c.753G>C (p.Gln251His)
c.2131G>C (p.Gly711Arg)
Xg.53985031C>TCA413252183PHF8c.2023G>A (p.Gly675Arg)
c.2326G>A (p.Gly776Arg)
c.*781G>A (n.*781G>A)
c.*1768G>A (n.*1768G>A)
n.1690G>A
c.2275G>A (p.Gly759Arg)
c.2434G>A (p.Gly812Arg)
c.2037G>A
c.1616G>A
c.753G>A (p.Gln251=)
c.2131G>A (p.Gly711Arg)
Xg.53985032T>ACA413252186PHF8c.2022A>T (p.Pro674=)
c.2325A>T (p.Pro775=)
c.*780A>T (n.*780A>T)
c.*1767A>T (n.*1767A>T)
n.1689A>T
c.2274A>T (p.Pro758=)
c.2433A>T (p.Pro811=)
c.2036A>T
c.1615A>T
c.752A>T (p.Gln251Leu)
c.2130A>T (p.Pro710=)
Xg.53985032T>CCA413252188PHF8c.2022A>G (p.Pro674=)
c.2325A>G (p.Pro775=)
c.*780A>G (n.*780A>G)
c.*1767A>G (n.*1767A>G)
n.1689A>G
c.2274A>G (p.Pro758=)
c.2433A>G (p.Pro811=)
c.2036A>G
c.1615A>G
c.752A>G (p.Gln251Arg)
c.2130A>G (p.Pro710=)
 gnomAD v4
Xg.53985032T>GCA413252190PHF8c.2022A>C (p.Pro674=)
c.2325A>C (p.Pro775=)
c.*780A>C (n.*780A>C)
c.*1767A>C (n.*1767A>C)
n.1689A>C
c.2274A>C (p.Pro758=)
c.2433A>C (p.Pro811=)
c.2036A>C
c.1615A>C
c.752A>C (p.Gln251Pro)
c.2130A>C (p.Pro710=)
Xg.53985033G>ACA413252195PHF8c.2021C>T (p.Pro674Leu)
c.2324C>T (p.Pro775Leu)
c.*779C>T (n.*779C>T)
c.*1766C>T (n.*1766C>T)
n.1688C>T
c.2273C>T (p.Pro758Leu)
c.2432C>T (p.Pro811Leu)
c.2035C>T
c.1614C>T
c.751C>T (p.Gln251Ter)
c.2129C>T (p.Pro710Leu)
Xg.53985033G>CCA413252194PHF8c.2021C>G (p.Pro674Arg)
c.2324C>G (p.Pro775Arg)
c.*779C>G (n.*779C>G)
c.*1766C>G (n.*1766C>G)
n.1688C>G
c.2273C>G (p.Pro758Arg)
c.2432C>G (p.Pro811Arg)
c.2035C>G
c.1614C>G
c.751C>G (p.Gln251Glu)
c.2129C>G (p.Pro710Arg)
 gnomAD v4
Xg.53985033G>TCA413252193PHF8c.2021C>A (p.Pro674Gln)
c.2324C>A (p.Pro775Gln)
c.*779C>A (n.*779C>A)
c.*1766C>A (n.*1766C>A)
n.1688C>A
c.2273C>A (p.Pro758Gln)
c.2432C>A (p.Pro811Gln)
c.2035C>A
c.1614C>A
c.751C>A (p.Gln251Lys)
c.2129C>A (p.Pro710Gln)
Xg.53985033_53985039delinsGGGGTGCCA2430030674PHF8c.2015_2021delinsGCACCCC (p.Arg672=)
c.2318_2324delinsGCACCCC (p.Arg773=)
c.*773_*779delinsGCACCCC (n.*773_*779delinsGCACCCC)
c.*1760_*1766delinsGCACCCC (n.*1760_*1766delinsGCACCCC)
n.1682_1688delinsGCACCCC
c.2267_2273delinsGCACCCC (p.Arg756=)
c.2426_2432delinsGCACCCC (p.Arg809=)
c.2029_2035delinsGCACCCC
c.1608_1614delinsGCACCCC
c.745_751delinsGCACCCC (p.Ala249=)
c.2123_2129delinsGCACCCC (p.Arg708=)
Xg.53985034G>ACA413252209PHF8c.2020C>T (p.Pro674Ser)
c.2323C>T (p.Pro775Ser)
c.*778C>T (n.*778C>T)
c.*1765C>T (n.*1765C>T)
n.1687C>T
c.2272C>T (p.Pro758Ser)
c.2431C>T (p.Pro811Ser)
c.2034C>T
c.1613C>T
c.750C>T (p.Pro250=)
c.2128C>T (p.Pro710Ser)
 gnomAD v4
Xg.53985034G>CCA413252198PHF8c.2020C>G (p.Pro674Ala)
c.2323C>G (p.Pro775Ala)
c.*778C>G (n.*778C>G)
c.*1765C>G (n.*1765C>G)
n.1687C>G
c.2272C>G (p.Pro758Ala)
c.2431C>G (p.Pro811Ala)
c.2034C>G
c.1613C>G
c.750C>G (p.Pro250=)
c.2128C>G (p.Pro710Ala)
Xg.53985034G=CA2430030676PHF8c.2020C= (p.Pro674=)
c.2323C= (p.Pro775=)
c.*778C= (n.*778C=)
c.*1765C= (n.*1765C=)
n.1687C=
c.2272C= (p.Pro758=)
c.2431C= (p.Pro811=)
c.2034C=
c.1613C=
c.750C= (p.Pro250=)
c.2128C= (p.Pro710=)
Xg.53985034G>TCA413252203PHF8c.2020C>A (p.Pro674Thr)
c.2323C>A (p.Pro775Thr)
c.*778C>A (n.*778C>A)
c.*1765C>A (n.*1765C>A)
n.1687C>A
c.2272C>A (p.Pro758Thr)
c.2431C>A (p.Pro811Thr)
c.2034C>A
c.1613C>A
c.750C>A (p.Pro250=)
c.2128C>A (p.Pro710Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.53985035_53985040delCA2430030675PHF8c.2015_2020del (p.Arg672_Thr673del)
c.2318_2323del (p.Arg773_Thr774del)
c.*773_*778del (n.*773_*778del)
c.*1760_*1765del (n.*1760_*1765del)
n.1682_1687del
c.2267_2272del (p.Arg756_Thr757del)
c.2426_2431del (p.Arg809_Thr810del)
c.2029_2034del
c.1608_1613del
c.745_750del (p.Ala249_Pro250del)
c.2123_2128del (p.Arg708_Thr709del)
 dbSNP
Xg.53985035G>ACA329924349PHF8c.2019C>T (p.Thr673=)
c.2322C>T (p.Thr774=)
c.*777C>T (n.*777C>T)
c.*1764C>T (n.*1764C>T)
n.1686C>T
c.2271C>T (p.Thr757=)
c.2430C>T (p.Thr810=)
c.2033C>T
c.1612C>T
c.749C>T (p.Pro250Leu)
c.2127C>T (p.Thr709=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53985035G>CCA413252216PHF8c.2019C>G (p.Thr673=)
c.2322C>G (p.Thr774=)
c.*777C>G (n.*777C>G)
c.*1764C>G (n.*1764C>G)
n.1686C>G
c.2271C>G (p.Thr757=)
c.2430C>G (p.Thr810=)
c.2033C>G
c.1612C>G
c.749C>G (p.Pro250Arg)
c.2127C>G (p.Thr709=)
Xg.53985035G=CA2430030677PHF8c.2019C= (p.Thr673=)
c.2322C= (p.Thr774=)
c.*777C= (n.*777C=)
c.*1764C= (n.*1764C=)
n.1686C=
c.2271C= (p.Thr757=)
c.2430C= (p.Thr810=)
c.2033C=
c.1612C=
c.749C= (p.Pro250=)
c.2127C= (p.Thr709=)
Xg.53985035G>TCA413252218PHF8c.2019C>A (p.Thr673=)
c.2322C>A (p.Thr774=)
c.*777C>A (n.*777C>A)
c.*1764C>A (n.*1764C>A)
n.1686C>A
c.2271C>A (p.Thr757=)
c.2430C>A (p.Thr810=)
c.2033C>A
c.1612C>A
c.749C>A (p.Pro250His)
c.2127C>A (p.Thr709=)
Xg.53985036G>ACA413252223PHF8c.2018C>T (p.Thr673Ile)
c.2321C>T (p.Thr774Ile)
c.*776C>T (n.*776C>T)
c.*1763C>T (n.*1763C>T)
n.1685C>T
c.2270C>T (p.Thr757Ile)
c.2429C>T (p.Thr810Ile)
c.2032C>T
c.1611C>T
c.748C>T (p.Pro250Ser)
c.2126C>T (p.Thr709Ile)
Xg.53985036G>CCA413252221PHF8c.2018C>G (p.Thr673Ser)
c.2321C>G (p.Thr774Ser)
c.*776C>G (n.*776C>G)
c.*1763C>G (n.*1763C>G)
n.1685C>G
c.2270C>G (p.Thr757Ser)
c.2429C>G (p.Thr810Ser)
c.2032C>G
c.1611C>G
c.748C>G (p.Pro250Ala)
c.2126C>G (p.Thr709Ser)
Xg.53985036G>TCA413252219PHF8c.2018C>A (p.Thr673Asn)
c.2321C>A (p.Thr774Asn)
c.*776C>A (n.*776C>A)
c.*1763C>A (n.*1763C>A)
n.1685C>A
c.2270C>A (p.Thr757Asn)
c.2429C>A (p.Thr810Asn)
c.2032C>A
c.1611C>A
c.748C>A (p.Pro250Thr)
c.2126C>A (p.Thr709Asn)
 gnomAD v4
Xg.53985037T>ACA413252227PHF8c.2017A>T (p.Thr673Ser)
c.2320A>T (p.Thr774Ser)
c.*775A>T (n.*775A>T)
c.*1762A>T (n.*1762A>T)
n.1684A>T
c.2269A>T (p.Thr757Ser)
c.2428A>T (p.Thr810Ser)
c.2031A>T
c.1610A>T
c.747A>T (p.Ala249=)
c.2125A>T (p.Thr709Ser)
 dbSNP
Xg.53985037T>CCA413252228PHF8c.2017A>G (p.Thr673Ala)
c.2320A>G (p.Thr774Ala)
c.*775A>G (n.*775A>G)
c.*1762A>G (n.*1762A>G)
n.1684A>G
c.2269A>G (p.Thr757Ala)
c.2428A>G (p.Thr810Ala)
c.2031A>G
c.1610A>G
c.747A>G (p.Ala249=)
c.2125A>G (p.Thr709Ala)
Xg.53985037T>GCA413252231PHF8c.2017A>C (p.Thr673Pro)
c.2320A>C (p.Thr774Pro)
c.*775A>C (n.*775A>C)
c.*1762A>C (n.*1762A>C)
n.1684A>C
c.2269A>C (p.Thr757Pro)
c.2428A>C (p.Thr810Pro)
c.2031A>C
c.1610A>C
c.747A>C (p.Ala249=)
c.2125A>C (p.Thr709Pro)
Xg.53985038G>ACA413252234PHF8c.2016C>T (p.Arg672=)
c.2319C>T (p.Arg773=)
c.*774C>T (n.*774C>T)
c.*1761C>T (n.*1761C>T)
n.1683C>T
c.2268C>T (p.Arg756=)
c.2427C>T (p.Arg809=)
c.2030C>T
c.1609C>T
c.746C>T (p.Ala249Val)
c.2124C>T (p.Arg708=)
Xg.53985038G>CCA413252235PHF8c.2016C>G (p.Arg672=)
c.2319C>G (p.Arg773=)
c.*774C>G (n.*774C>G)
c.*1761C>G (n.*1761C>G)
n.1683C>G
c.2268C>G (p.Arg756=)
c.2427C>G (p.Arg809=)
c.2030C>G
c.1609C>G
c.746C>G (p.Ala249Gly)
c.2124C>G (p.Arg708=)
Xg.53985038G>TCA413252236PHF8c.2016C>A (p.Arg672=)
c.2319C>A (p.Arg773=)
c.*774C>A (n.*774C>A)
c.*1761C>A (n.*1761C>A)
n.1683C>A
c.2268C>A (p.Arg756=)
c.2427C>A (p.Arg809=)
c.2030C>A
c.1609C>A
c.746C>A (p.Ala249Glu)
c.2124C>A (p.Arg708=)
Xg.53985039C>ACA413252238PHF8c.2015G>T (p.Arg672Leu)
c.2318G>T (p.Arg773Leu)
c.*773G>T (n.*773G>T)
c.*1760G>T (n.*1760G>T)
n.1682G>T
c.2267G>T (p.Arg756Leu)
c.2426G>T (p.Arg809Leu)
c.2029G>T
c.1608G>T
c.745G>T (p.Ala249Ser)
c.2123G>T (p.Arg708Leu)
Xg.53985039C=CA2430030678PHF8c.2015G= (p.Arg672=)
c.2318G= (p.Arg773=)
c.*773G= (n.*773G=)
c.*1760G= (n.*1760G=)
n.1682G=
c.2267G= (p.Arg756=)
c.2426G= (p.Arg809=)
c.2029G=
c.1608G=
c.745G= (p.Ala249=)
c.2123G= (p.Arg708=)
Xg.53985039C>GCA413252242PHF8c.2015G>C (p.Arg672Pro)
c.2318G>C (p.Arg773Pro)
c.*773G>C (n.*773G>C)
c.*1760G>C (n.*1760G>C)
n.1682G>C
c.2267G>C (p.Arg756Pro)
c.2426G>C (p.Arg809Pro)
c.2029G>C
c.1608G>C
c.745G>C (p.Ala249Pro)
c.2123G>C (p.Arg708Pro)
 ClinVar gnomAD v4
Xg.53985039C>TCA10423308PHF8c.2015G>A (p.Arg672His)
c.2318G>A (p.Arg773His)
c.*773G>A (n.*773G>A)
c.*1760G>A (n.*1760G>A)
n.1682G>A
c.2267G>A (p.Arg756His)
c.2426G>A (p.Arg809His)
c.2029G>A
c.1608G>A
c.745G>A (p.Ala249Thr)
c.2123G>A (p.Arg708His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.53985040G>ACA413252246PHF8c.2014C>T (p.Arg672Cys)
c.2317C>T (p.Arg773Cys)
c.*772C>T (n.*772C>T)
c.*1759C>T (n.*1759C>T)
n.1681C>T
c.2266C>T (p.Arg756Cys)
c.2425C>T (p.Arg809Cys)
c.2028C>T
c.1607C>T
c.744C>T (p.Ser248=)
c.2122C>T (p.Arg708Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985040G>CCA413252249PHF8c.2014C>G (p.Arg672Gly)
c.2317C>G (p.Arg773Gly)
c.*772C>G (n.*772C>G)
c.*1759C>G (n.*1759C>G)
n.1681C>G
c.2266C>G (p.Arg756Gly)
c.2425C>G (p.Arg809Gly)
c.2028C>G
c.1607C>G
c.744C>G (p.Ser248Arg)
c.2122C>G (p.Arg708Gly)
 gnomAD v4
Xg.53985040G=CA2430030679PHF8c.2014C= (p.Arg672=)
c.2317C= (p.Arg773=)
c.*772C= (n.*772C=)
c.*1759C= (n.*1759C=)
n.1681C=
c.2266C= (p.Arg756=)
c.2425C= (p.Arg809=)
c.2028C=
c.1607C=
c.744C= (p.Ser248=)
c.2122C= (p.Arg708=)
Xg.53985040G>TCA10423309PHF8c.2014C>A (p.Arg672Ser)
c.2317C>A (p.Arg773Ser)
c.*772C>A (n.*772C>A)
c.*1759C>A (n.*1759C>A)
n.1681C>A
c.2266C>A (p.Arg756Ser)
c.2425C>A (p.Arg809Ser)
c.2028C>A
c.1607C>A
c.744C>A (p.Ser248Arg)
c.2122C>A (p.Arg708Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53985041C>ACA413252251PHF8c.2013G>T (p.Gln671His)
c.2316G>T (p.Gln772His)
c.*771G>T (n.*771G>T)
c.*1758G>T (n.*1758G>T)
n.1680G>T
c.2265G>T (p.Gln755His)
c.2424G>T (p.Gln808His)
c.2027G>T
c.1606G>T
c.743G>T (p.Ser248Ile)
c.2121G>T (p.Gln707His)
Xg.53985041C>GCA413252252PHF8c.2013G>C (p.Gln671His)
c.2316G>C (p.Gln772His)
c.*771G>C (n.*771G>C)
c.*1758G>C (n.*1758G>C)
n.1680G>C
c.2265G>C (p.Gln755His)
c.2424G>C (p.Gln808His)
c.2027G>C
c.1606G>C
c.743G>C (p.Ser248Thr)
c.2121G>C (p.Gln707His)
Xg.53985041C>TCA413252255PHF8c.2013G>A (p.Gln671=)
c.2316G>A (p.Gln772=)
c.*771G>A (n.*771G>A)
c.*1758G>A (n.*1758G>A)
n.1680G>A
c.2265G>A (p.Gln755=)
c.2424G>A (p.Gln808=)
c.2027G>A
c.1606G>A
c.743G>A (p.Ser248Asn)
c.2121G>A (p.Gln707=)
Xg.53985042T>ACA413252257PHF8c.2012A>T (p.Gln671Leu)
c.2315A>T (p.Gln772Leu)
c.*770A>T (n.*770A>T)
c.*1757A>T (n.*1757A>T)
n.1679A>T
c.2264A>T (p.Gln755Leu)
c.2423A>T (p.Gln808Leu)
c.2026A>T
c.1605A>T
c.742A>T (p.Ser248Cys)
c.2120A>T (p.Gln707Leu)
Xg.53985042T>CCA329924350PHF8c.2012A>G (p.Gln671Arg)
c.2315A>G (p.Gln772Arg)
c.*770A>G (n.*770A>G)
c.*1757A>G (n.*1757A>G)
n.1679A>G
c.2264A>G (p.Gln755Arg)
c.2423A>G (p.Gln808Arg)
c.2026A>G
c.1605A>G
c.742A>G (p.Ser248Gly)
c.2120A>G (p.Gln707Arg)
 dbSNP
Xg.53985042T>GCA413252259PHF8c.2012A>C (p.Gln671Pro)
c.2315A>C (p.Gln772Pro)
c.*770A>C (n.*770A>C)
c.*1757A>C (n.*1757A>C)
n.1679A>C
c.2264A>C (p.Gln755Pro)
c.2423A>C (p.Gln808Pro)
c.2026A>C
c.1605A>C
c.742A>C (p.Ser248Arg)
c.2120A>C (p.Gln707Pro)
Xg.53985042T=CA2430030680PHF8c.2012A= (p.Gln671=)
c.2315A= (p.Gln772=)
c.*770A= (n.*770A=)
c.*1757A= (n.*1757A=)
n.1679A=
c.2264A= (p.Gln755=)
c.2423A= (p.Gln808=)
c.2026A=
c.1605A=
c.742A= (p.Ser248=)
c.2120A= (p.Gln707=)
Xg.53985043G>ACA413252261PHF8c.2011C>T (p.Gln671Ter)
c.2314C>T (p.Gln772Ter)
c.*769C>T (n.*769C>T)
c.*1756C>T (n.*1756C>T)
n.1678C>T
c.2263C>T (p.Gln755Ter)
c.2422C>T (p.Gln808Ter)
c.2025C>T
c.1604C>T
c.741C>T (p.Pro247=)
c.2119C>T (p.Gln707Ter)
Xg.53985043G>CCA413252263PHF8c.2011C>G (p.Gln671Glu)
c.2314C>G (p.Gln772Glu)
c.*769C>G (n.*769C>G)
c.*1756C>G (n.*1756C>G)
n.1678C>G
c.2263C>G (p.Gln755Glu)
c.2422C>G (p.Gln808Glu)
c.2025C>G
c.1604C>G
c.741C>G (p.Pro247=)
c.2119C>G (p.Gln707Glu)
Xg.53985043G=CA2430030681PHF8c.2011C= (p.Gln671=)
c.2314C= (p.Gln772=)
c.*769C= (n.*769C=)
c.*1756C= (n.*1756C=)
n.1678C=
c.2263C= (p.Gln755=)
c.2422C= (p.Gln808=)
c.2025C=
c.1604C=
c.741C= (p.Pro247=)
c.2119C= (p.Gln707=)
Xg.53985043G>TCA413252264PHF8c.2011C>A (p.Gln671Lys)
c.2314C>A (p.Gln772Lys)
c.*769C>A (n.*769C>A)
c.*1756C>A (n.*1756C>A)
n.1678C>A
c.2263C>A (p.Gln755Lys)
c.2422C>A (p.Gln808Lys)
c.2025C>A
c.1604C>A
c.741C>A (p.Pro247=)
c.2119C>A (p.Gln707Lys)
 dbSNP gnomAD v4
Xg.53985044G>ACA10423310PHF8c.2010C>T (p.Ser670=)
c.2313C>T (p.Ser771=)
c.*768C>T (n.*768C>T)
c.*1755C>T (n.*1755C>T)
n.1677C>T
c.2262C>T (p.Ser754=)
c.2421C>T (p.Ser807=)
c.2024C>T
c.1603C>T
c.740C>T (p.Pro247Leu)
c.2118C>T (p.Ser706=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53985044G>CCA413252269PHF8c.2010C>G (p.Ser670=)
c.2313C>G (p.Ser771=)
c.*768C>G (n.*768C>G)
c.*1755C>G (n.*1755C>G)
n.1677C>G
c.2262C>G (p.Ser754=)
c.2421C>G (p.Ser807=)
c.2024C>G
c.1603C>G
c.740C>G (p.Pro247Arg)
c.2118C>G (p.Ser706=)
Xg.53985044G=CA2430030682PHF8c.2010C= (p.Ser670=)
c.2313C= (p.Ser771=)
c.*768C= (n.*768C=)
c.*1755C= (n.*1755C=)
n.1677C=
c.2262C= (p.Ser754=)
c.2421C= (p.Ser807=)
c.2024C=
c.1603C=
c.740C= (p.Pro247=)
c.2118C= (p.Ser706=)
Xg.53985044G>TCA413252267PHF8c.2010C>A (p.Ser670=)
c.2313C>A (p.Ser771=)
c.*768C>A (n.*768C>A)
c.*1755C>A (n.*1755C>A)
n.1677C>A
c.2262C>A (p.Ser754=)
c.2421C>A (p.Ser807=)
c.2024C>A
c.1603C>A
c.740C>A (p.Pro247His)
c.2118C>A (p.Ser706=)
Xg.53985045G>ACA413252273PHF8c.2009C>T (p.Ser670Phe)
c.2312C>T (p.Ser771Phe)
c.*767C>T (n.*767C>T)
c.*1754C>T (n.*1754C>T)
n.1676C>T
c.2261C>T (p.Ser754Phe)
c.2420C>T (p.Ser807Phe)
c.2023C>T
c.1602C>T
c.739C>T (p.Pro247Ser)
c.2117C>T (p.Ser706Phe)
Xg.53985045G>CCA413252274PHF8c.2009C>G (p.Ser670Cys)
c.2312C>G (p.Ser771Cys)
c.*767C>G (n.*767C>G)
c.*1754C>G (n.*1754C>G)
n.1676C>G
c.2261C>G (p.Ser754Cys)
c.2420C>G (p.Ser807Cys)
c.2023C>G
c.1602C>G
c.739C>G (p.Pro247Ala)
c.2117C>G (p.Ser706Cys)
Xg.53985045G>TCA413252276PHF8c.2009C>A (p.Ser670Tyr)
c.2312C>A (p.Ser771Tyr)
c.*767C>A (n.*767C>A)
c.*1754C>A (n.*1754C>A)
n.1676C>A
c.2261C>A (p.Ser754Tyr)
c.2420C>A (p.Ser807Tyr)
c.2023C>A
c.1602C>A
c.739C>A (p.Pro247Thr)
c.2117C>A (p.Ser706Tyr)
Xg.53985046A>CCA413252279PHF8c.2008T>G (p.Ser670Ala)
c.2311T>G (p.Ser771Ala)
c.*766T>G (n.*766T>G)
c.*1753T>G (n.*1753T>G)
n.1675T>G
c.2260T>G (p.Ser754Ala)
c.2419T>G (p.Ser807Ala)
c.2022T>G
c.1601T>G
c.738T>G (p.Leu246=)
c.2116T>G (p.Ser706Ala)
Xg.53985046A>GCA413252281PHF8c.2008T>C (p.Ser670Pro)
c.2311T>C (p.Ser771Pro)
c.*766T>C (n.*766T>C)
c.*1753T>C (n.*1753T>C)
n.1675T>C
c.2260T>C (p.Ser754Pro)
c.2419T>C (p.Ser807Pro)
c.2022T>C
c.1601T>C
c.738T>C (p.Leu246=)
c.2116T>C (p.Ser706Pro)
 gnomAD v4
Xg.53985046A>TCA413252284PHF8c.2008T>A (p.Ser670Thr)
c.2311T>A (p.Ser771Thr)
c.*766T>A (n.*766T>A)
c.*1753T>A (n.*1753T>A)
n.1675T>A
c.2260T>A (p.Ser754Thr)
c.2419T>A (p.Ser807Thr)
c.2022T>A
c.1601T>A
c.738T>A (p.Leu246=)
c.2116T>A (p.Ser706Thr)
Xg.53985047A>CCA413252292PHF8c.2007T>G (p.Ala669=)
c.2310T>G (p.Ala770=)
c.*765T>G (n.*765T>G)
c.*1752T>G (n.*1752T>G)
n.1674T>G
c.2259T>G (p.Ala753=)
c.2418T>G (p.Ala806=)
c.2021T>G
c.1600T>G
c.737T>G (p.Leu246Arg)
c.2115T>G (p.Ala705=)
Xg.53985047A>GCA413252290PHF8c.2007T>C (p.Ala669=)
c.2310T>C (p.Ala770=)
c.*765T>C (n.*765T>C)
c.*1752T>C (n.*1752T>C)
n.1674T>C
c.2259T>C (p.Ala753=)
c.2418T>C (p.Ala806=)
c.2021T>C
c.1600T>C
c.737T>C (p.Leu246Pro)
c.2115T>C (p.Ala705=)
Xg.53985047A>TCA413252287PHF8c.2007T>A (p.Ala669=)
c.2310T>A (p.Ala770=)
c.*765T>A (n.*765T>A)
c.*1752T>A (n.*1752T>A)
n.1674T>A
c.2259T>A (p.Ala753=)
c.2418T>A (p.Ala806=)
c.2021T>A
c.1600T>A
c.737T>A (p.Leu246His)
c.2115T>A (p.Ala705=)
Xg.53985048G>ACA413252294PHF8c.2006C>T (p.Ala669Val)
c.2309C>T (p.Ala770Val)
c.*764C>T (n.*764C>T)
c.*1751C>T (n.*1751C>T)
n.1673C>T
c.2258C>T (p.Ala753Val)
c.2417C>T (p.Ala806Val)
c.2020C>T
c.1599C>T
c.736C>T (p.Leu246Phe)
c.2114C>T (p.Ala705Val)
 dbSNP gnomAD v4
Xg.53985048G>CCA413252295PHF8c.2006C>G (p.Ala669Gly)
c.2309C>G (p.Ala770Gly)
c.*764C>G (n.*764C>G)
c.*1751C>G (n.*1751C>G)
n.1673C>G
c.2258C>G (p.Ala753Gly)
c.2417C>G (p.Ala806Gly)
c.2020C>G
c.1599C>G
c.736C>G (p.Leu246Val)
c.2114C>G (p.Ala705Gly)
Xg.53985048G>TCA413252298PHF8c.2006C>A (p.Ala669Asp)
c.2309C>A (p.Ala770Asp)
c.*764C>A (n.*764C>A)
c.*1751C>A (n.*1751C>A)
n.1673C>A
c.2258C>A (p.Ala753Asp)
c.2417C>A (p.Ala806Asp)
c.2020C>A
c.1599C>A
c.736C>A (p.Leu246Ile)
c.2114C>A (p.Ala705Asp)
Xg.53985049C>ACA413252300PHF8c.2005G>T (p.Ala669Ser)
c.2308G>T (p.Ala770Ser)
c.*763G>T (n.*763G>T)
c.*1750G>T (n.*1750G>T)
n.1672G>T
c.2257G>T (p.Ala753Ser)
c.2416G>T (p.Ala806Ser)
c.2019G>T
c.1598G>T
c.735G>T (p.Leu245=)
c.2113G>T (p.Ala705Ser)
 COSMIC COSMIC COSMIC COSMIC
Xg.53985049C>GCA413252302PHF8c.2005G>C (p.Ala669Pro)
c.2308G>C (p.Ala770Pro)
c.*763G>C (n.*763G>C)
c.*1750G>C (n.*1750G>C)
n.1672G>C
c.2257G>C (p.Ala753Pro)
c.2416G>C (p.Ala806Pro)
c.2019G>C
c.1598G>C
c.735G>C (p.Leu245=)
c.2113G>C (p.Ala705Pro)
 ClinVar
Xg.53985049C>TCA413252304PHF8c.2005G>A (p.Ala669Thr)
c.2308G>A (p.Ala770Thr)
c.*763G>A (n.*763G>A)
c.*1750G>A (n.*1750G>A)
n.1672G>A
c.2257G>A (p.Ala753Thr)
c.2416G>A (p.Ala806Thr)
c.2019G>A
c.1598G>A
c.735G>A (p.Leu245=)
c.2113G>A (p.Ala705Thr)
Xg.53985050A>CCA413252306PHF8c.2004T>G (p.Pro668=)
c.2307T>G (p.Pro769=)
c.*762T>G (n.*762T>G)
c.*1749T>G (n.*1749T>G)
n.1671T>G
c.2256T>G (p.Pro752=)
c.2415T>G (p.Pro805=)
c.2018T>G
c.1597T>G
c.734T>G (p.Leu245Arg)
c.2112T>G (p.Pro704=)
Xg.53985050A>GCA413252310PHF8c.2004T>C (p.Pro668=)
c.2307T>C (p.Pro769=)
c.*762T>C (n.*762T>C)
c.*1749T>C (n.*1749T>C)
n.1671T>C
c.2256T>C (p.Pro752=)
c.2415T>C (p.Pro805=)
c.2018T>C
c.1597T>C
c.734T>C (p.Leu245Pro)
c.2112T>C (p.Pro704=)
Xg.53985050A>TCA413252308PHF8c.2004T>A (p.Pro668=)
c.2307T>A (p.Pro769=)
c.*762T>A (n.*762T>A)
c.*1749T>A (n.*1749T>A)
n.1671T>A
c.2256T>A (p.Pro752=)
c.2415T>A (p.Pro805=)
c.2018T>A
c.1597T>A
c.734T>A (p.Leu245Gln)
c.2112T>A (p.Pro704=)
Xg.53985051G>ACA413252313PHF8c.2003C>T (p.Pro668Leu)
c.2306C>T (p.Pro769Leu)
c.*761C>T (n.*761C>T)
c.*1748C>T (n.*1748C>T)
n.1670C>T
c.2255C>T (p.Pro752Leu)
c.2414C>T (p.Pro805Leu)
c.2017C>T
c.1596C>T
c.733C>T (p.Leu245=)
c.2111C>T (p.Pro704Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.53985051G>CCA413252316PHF8c.2003C>G (p.Pro668Arg)
c.2306C>G (p.Pro769Arg)
c.*761C>G (n.*761C>G)
c.*1748C>G (n.*1748C>G)
n.1670C>G
c.2255C>G (p.Pro752Arg)
c.2414C>G (p.Pro805Arg)
c.2017C>G
c.1596C>G
c.733C>G (p.Leu245Val)
c.2111C>G (p.Pro704Arg)
 gnomAD v4
Xg.53985051G=CA2430030683PHF8c.2003C= (p.Pro668=)
c.2306C= (p.Pro769=)
c.*761C= (n.*761C=)
c.*1748C= (n.*1748C=)
n.1670C=
c.2255C= (p.Pro752=)
c.2414C= (p.Pro805=)
c.2017C=
c.1596C=
c.733C= (p.Leu245=)
c.2111C= (p.Pro704=)
Xg.53985051G>TCA413252318PHF8c.2003C>A (p.Pro668His)
c.2306C>A (p.Pro769His)
c.*761C>A (n.*761C>A)
c.*1748C>A (n.*1748C>A)
n.1670C>A
c.2255C>A (p.Pro752His)
c.2414C>A (p.Pro805His)
c.2017C>A
c.1596C>A
c.733C>A (p.Leu245Met)
c.2111C>A (p.Pro704His)
 COSMIC COSMIC COSMIC
Xg.53985052G>ACA413252321PHF8c.2002C>T (p.Pro668Ser)
c.2305C>T (p.Pro769Ser)
c.*760C>T (n.*760C>T)
c.*1747C>T (n.*1747C>T)
n.1669C>T
c.2254C>T (p.Pro752Ser)
c.2413C>T (p.Pro805Ser)
c.2016C>T
c.1595C>T
c.732C>T (p.Val244=)
c.2110C>T (p.Pro704Ser)
 ClinVar gnomAD v4
Xg.53985052G>CCA413252323PHF8c.2002C>G (p.Pro668Ala)
c.2305C>G (p.Pro769Ala)
c.*760C>G (n.*760C>G)
c.*1747C>G (n.*1747C>G)
n.1669C>G
c.2254C>G (p.Pro752Ala)
c.2413C>G (p.Pro805Ala)
c.2016C>G
c.1595C>G
c.732C>G (p.Val244=)
c.2110C>G (p.Pro704Ala)
Xg.53985052G>TCA413252325PHF8c.2002C>A (p.Pro668Thr)
c.2305C>A (p.Pro769Thr)
c.*760C>A (n.*760C>A)
c.*1747C>A (n.*1747C>A)
n.1669C>A
c.2254C>A (p.Pro752Thr)
c.2413C>A (p.Pro805Thr)
c.2016C>A
c.1595C>A
c.732C>A (p.Val244=)
c.2110C>A (p.Pro704Thr)
Xg.53985053A>CCA413252328PHF8c.2001T>G (p.Ser667Arg)
c.2304T>G (p.Ser768Arg)
c.*759T>G (n.*759T>G)
c.*1746T>G (n.*1746T>G)
n.1668T>G
c.2253T>G (p.Ser751Arg)
c.2412T>G (p.Ser804Arg)
c.2015T>G
c.1594T>G
c.731T>G (p.Val244Gly)
c.2109T>G (p.Ser703Arg)
Xg.53985053A>GCA413252331PHF8c.2001T>C (p.Ser667=)
c.2304T>C (p.Ser768=)
c.*759T>C (n.*759T>C)
c.*1746T>C (n.*1746T>C)
n.1668T>C
c.2253T>C (p.Ser751=)
c.2412T>C (p.Ser804=)
c.2015T>C
c.1594T>C
c.731T>C (p.Val244Ala)
c.2109T>C (p.Ser703=)
Xg.53985053A>TCA413252333PHF8c.2001T>A (p.Ser667Arg)
c.2304T>A (p.Ser768Arg)
c.*759T>A (n.*759T>A)
c.*1746T>A (n.*1746T>A)
n.1668T>A
c.2253T>A (p.Ser751Arg)
c.2412T>A (p.Ser804Arg)
c.2015T>A
c.1594T>A
c.731T>A (p.Val244Asp)
c.2109T>A (p.Ser703Arg)
Xg.53985054C>ACA413252336PHF8c.2000G>T (p.Ser667Ile)
c.2303G>T (p.Ser768Ile)
c.*758G>T (n.*758G>T)
c.*1745G>T (n.*1745G>T)
n.1667G>T
c.2252G>T (p.Ser751Ile)
c.2411G>T (p.Ser804Ile)
c.2014G>T
c.1593G>T
c.730G>T (p.Val244Phe)
c.2108G>T (p.Ser703Ile)
Xg.53985054C>GCA413252338PHF8c.2000G>C (p.Ser667Thr)
c.2303G>C (p.Ser768Thr)
c.*758G>C (n.*758G>C)
c.*1745G>C (n.*1745G>C)
n.1667G>C
c.2252G>C (p.Ser751Thr)
c.2411G>C (p.Ser804Thr)
c.2014G>C
c.1593G>C
c.730G>C (p.Val244Leu)
c.2108G>C (p.Ser703Thr)
Xg.53985054C>TCA413252339PHF8c.2000G>A (p.Ser667Asn)
c.2303G>A (p.Ser768Asn)
c.*758G>A (n.*758G>A)
c.*1745G>A (n.*1745G>A)
n.1667G>A
c.2252G>A (p.Ser751Asn)
c.2411G>A (p.Ser804Asn)
c.2014G>A
c.1593G>A
c.730G>A (p.Val244Ile)
c.2108G>A (p.Ser703Asn)
Xg.53985055T>ACA413252343PHF8c.1999A>T (p.Ser667Cys)
c.2302A>T (p.Ser768Cys)
c.*757A>T (n.*757A>T)
c.*1744A>T (n.*1744A>T)
n.1666A>T
c.2251A>T (p.Ser751Cys)
c.2410A>T (p.Ser804Cys)
c.2013A>T
c.1592A>T
c.729A>T (p.Thr243=)
c.2107A>T (p.Ser703Cys)
Xg.53985055T>CCA413252347PHF8c.1999A>G (p.Ser667Gly)
c.2302A>G (p.Ser768Gly)
c.*757A>G (n.*757A>G)
c.*1744A>G (n.*1744A>G)
n.1666A>G
c.2251A>G (p.Ser751Gly)
c.2410A>G (p.Ser804Gly)
c.2013A>G
c.1592A>G
c.729A>G (p.Thr243=)
c.2107A>G (p.Ser703Gly)
Xg.53985055T>GCA413252345PHF8c.1999A>C (p.Ser667Arg)
c.2302A>C (p.Ser768Arg)
c.*757A>C (n.*757A>C)
c.*1744A>C (n.*1744A>C)
n.1666A>C
c.2251A>C (p.Ser751Arg)
c.2410A>C (p.Ser804Arg)
c.2013A>C
c.1592A>C
c.729A>C (p.Thr243=)
c.2107A>C (p.Ser703Arg)
Xg.53985056G>ACA413252349PHF8c.1998C>T (p.Asn666=)
c.2301C>T (p.Asn767=)
c.*756C>T (n.*756C>T)
c.*1743C>T (n.*1743C>T)
n.1665C>T
c.2250C>T (p.Asn750=)
c.2409C>T (p.Asn803=)
c.2012C>T
c.1591C>T
c.728C>T (p.Thr243Ile)
c.2106C>T (p.Asn702=)
Xg.53985056G>CCA413252351PHF8c.1998C>G (p.Asn666Lys)
c.2301C>G (p.Asn767Lys)
c.*756C>G (n.*756C>G)
c.*1743C>G (n.*1743C>G)
n.1665C>G
c.2250C>G (p.Asn750Lys)
c.2409C>G (p.Asn803Lys)
c.2012C>G
c.1591C>G
c.728C>G (p.Thr243Arg)
c.2106C>G (p.Asn702Lys)
Xg.53985056G>TCA413252353PHF8c.1998C>A (p.Asn666Lys)
c.2301C>A (p.Asn767Lys)
c.*756C>A (n.*756C>A)
c.*1743C>A (n.*1743C>A)
n.1665C>A
c.2250C>A (p.Asn750Lys)
c.2409C>A (p.Asn803Lys)
c.2012C>A
c.1591C>A
c.728C>A (p.Thr243Lys)
c.2106C>A (p.Asn702Lys)
Xg.53985057T>ACA413252357PHF8c.1997A>T (p.Asn666Ile)
c.2300A>T (p.Asn767Ile)
c.*755A>T (n.*755A>T)
c.*1742A>T (n.*1742A>T)
n.1664A>T
c.2249A>T (p.Asn750Ile)
c.2408A>T (p.Asn803Ile)
c.2011A>T
c.1590A>T
c.727A>T (p.Thr243Ser)
c.2105A>T (p.Asn702Ile)
Xg.53985057T>CCA413252358PHF8c.1997A>G (p.Asn666Ser)
c.2300A>G (p.Asn767Ser)
c.*755A>G (n.*755A>G)
c.*1742A>G (n.*1742A>G)
n.1664A>G
c.2249A>G (p.Asn750Ser)
c.2408A>G (p.Asn803Ser)
c.2011A>G
c.1590A>G
c.727A>G (p.Thr243Ala)
c.2105A>G (p.Asn702Ser)
Xg.53985057T>GCA413252360PHF8c.1997A>C (p.Asn666Thr)
c.2300A>C (p.Asn767Thr)
c.*755A>C (n.*755A>C)
c.*1742A>C (n.*1742A>C)
n.1664A>C
c.2249A>C (p.Asn750Thr)
c.2408A>C (p.Asn803Thr)
c.2011A>C
c.1590A>C
c.727A>C (p.Thr243Pro)
c.2105A>C (p.Asn702Thr)
Xg.53985058delCA2579619385PHF8c.1997del (p.Asn666ThrfsTer?)
c.2300del (p.Asn767ThrfsTer?)
c.*755del (n.*755del)
c.*1742del (n.*1742del)
n.1664del
c.2249del (p.Asn750ThrfsTer?)
c.2408del (p.Asn803ThrfsTer?)
c.2011del
c.1590del
c.727del (p.Thr243GlnfsTer?)
c.2105del (p.Asn702ThrfsTer?)
Xg.53985058T>ACA413252363PHF8c.1996A>T (p.Asn666Tyr)
c.2299A>T (p.Asn767Tyr)
c.*754A>T (n.*754A>T)
c.*1741A>T (n.*1741A>T)
n.1663A>T
c.2248A>T (p.Asn750Tyr)
c.2407A>T (p.Asn803Tyr)
c.2010A>T
c.1589A>T
c.726A>T (p.Leu242=)
c.2104A>T (p.Asn702Tyr)
Xg.53985058T>CCA10423311PHF8c.1996A>G (p.Asn666Asp)
c.2299A>G (p.Asn767Asp)
c.*754A>G (n.*754A>G)
c.*1741A>G (n.*1741A>G)
n.1663A>G
c.2248A>G (p.Asn750Asp)
c.2407A>G (p.Asn803Asp)
c.2010A>G
c.1589A>G
c.726A>G (p.Leu242=)
c.2104A>G (p.Asn702Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985058T>GCA413252366PHF8c.1996A>C (p.Asn666His)
c.2299A>C (p.Asn767His)
c.*754A>C (n.*754A>C)
c.*1741A>C (n.*1741A>C)
n.1663A>C
c.2248A>C (p.Asn750His)
c.2407A>C (p.Asn803His)
c.2010A>C
c.1589A>C
c.726A>C (p.Leu242=)
c.2104A>C (p.Asn702His)
Xg.53985058T=CA2430030684PHF8c.1996A= (p.Asn666=)
c.2299A= (p.Asn767=)
c.*754A= (n.*754A=)
c.*1741A= (n.*1741A=)
n.1663A=
c.2248A= (p.Asn750=)
c.2407A= (p.Asn803=)
c.2010A=
c.1589A=
c.726A= (p.Leu242=)
c.2104A= (p.Asn702=)
Xg.53985059A>CCA413252369PHF8c.1995T>G (p.Ser665=)
c.2298T>G (p.Ser766=)
c.*753T>G (n.*753T>G)
c.*1740T>G (n.*1740T>G)
n.1662T>G
c.2247T>G (p.Ser749=)
c.2406T>G (p.Ser802=)
c.2009T>G
c.1588T>G
c.725T>G (p.Leu242Arg)
c.2103T>G (p.Ser701=)
Xg.53985059A>GCA413252371PHF8c.1995T>C (p.Ser665=)
c.2298T>C (p.Ser766=)
c.*753T>C (n.*753T>C)
c.*1740T>C (n.*1740T>C)
n.1662T>C
c.2247T>C (p.Ser749=)
c.2406T>C (p.Ser802=)
c.2009T>C
c.1588T>C
c.725T>C (p.Leu242Pro)
c.2103T>C (p.Ser701=)
Xg.53985059A>TCA413252373PHF8c.1995T>A (p.Ser665=)
c.2298T>A (p.Ser766=)
c.*753T>A (n.*753T>A)
c.*1740T>A (n.*1740T>A)
n.1662T>A
c.2247T>A (p.Ser749=)
c.2406T>A (p.Ser802=)
c.2009T>A
c.1588T>A
c.725T>A (p.Leu242Gln)
c.2103T>A (p.Ser701=)
Xg.53985059dupCA2693828138PHF8c.1995dup (p.Asn666Ter)
c.2298dup (p.Asn767Ter)
c.*753dup (n.*753dup)
c.*1740dup (n.*1740dup)
n.1662dup
c.2247dup (p.Asn750Ter)
c.2406dup (p.Asn803Ter)
c.2009dup
c.1588dup
c.725dup (p.Thr243AsnfsTer?)
c.2103dup (p.Asn702Ter)
 gnomAD v4
Xg.53985060G>ACA413252381PHF8c.1994C>T (p.Ser665Phe)
c.2297C>T (p.Ser766Phe)
c.*752C>T (n.*752C>T)
c.*1739C>T (n.*1739C>T)
n.1661C>T
c.2246C>T (p.Ser749Phe)
c.2405C>T (p.Ser802Phe)
c.2008C>T
c.1587C>T
c.724C>T (p.Leu242=)
c.2102C>T (p.Ser701Phe)
 gnomAD v4
Xg.53985060G>CCA413252379PHF8c.1994C>G (p.Ser665Cys)
c.2297C>G (p.Ser766Cys)
c.*752C>G (n.*752C>G)
c.*1739C>G (n.*1739C>G)
n.1661C>G
c.2246C>G (p.Ser749Cys)
c.2405C>G (p.Ser802Cys)
c.2008C>G
c.1587C>G
c.724C>G (p.Leu242Val)
c.2102C>G (p.Ser701Cys)
Xg.53985060G>TCA413252377PHF8c.1994C>A (p.Ser665Tyr)
c.2297C>A (p.Ser766Tyr)
c.*752C>A (n.*752C>A)
c.*1739C>A (n.*1739C>A)
n.1661C>A
c.2246C>A (p.Ser749Tyr)
c.2405C>A (p.Ser802Tyr)
c.2008C>A
c.1587C>A
c.724C>A (p.Leu242Ile)
c.2102C>A (p.Ser701Tyr)
Xg.53985061A>CCA413252384PHF8c.1993T>G (p.Ser665Ala)
c.2296T>G (p.Ser766Ala)
c.*751T>G (n.*751T>G)
c.*1738T>G (n.*1738T>G)
n.1660T>G
c.2245T>G (p.Ser749Ala)
c.2404T>G (p.Ser802Ala)
c.2007T>G
c.1586T>G
c.723T>G (p.Cys241Trp)
c.2101T>G (p.Ser701Ala)
Xg.53985061A>GCA413252386PHF8c.1993T>C (p.Ser665Pro)
c.2296T>C (p.Ser766Pro)
c.*751T>C (n.*751T>C)
c.*1738T>C (n.*1738T>C)
n.1660T>C
c.2245T>C (p.Ser749Pro)
c.2404T>C (p.Ser802Pro)
c.2007T>C
c.1586T>C
c.723T>C (p.Cys241=)
c.2101T>C (p.Ser701Pro)
Xg.53985061A>TCA413252389PHF8c.1993T>A (p.Ser665Thr)
c.2296T>A (p.Ser766Thr)
c.*751T>A (n.*751T>A)
c.*1738T>A (n.*1738T>A)
n.1660T>A
c.2245T>A (p.Ser749Thr)
c.2404T>A (p.Ser802Thr)
c.2007T>A
c.1586T>A
c.723T>A (p.Cys241Ter)
c.2101T>A (p.Ser701Thr)
Xg.53985062C>ACA413252392PHF8c.1992G>T (p.Val664=)
c.2295G>T (p.Val765=)
c.*750G>T (n.*750G>T)
c.*1737G>T (n.*1737G>T)
n.1659G>T
c.2244G>T (p.Val748=)
c.2403G>T (p.Val801=)
c.2006G>T
c.1585G>T
c.722G>T (p.Cys241Phe)
c.2100G>T (p.Val700=)
Xg.53985062C>GCA413252394PHF8c.1992G>C (p.Val664=)
c.2295G>C (p.Val765=)
c.*750G>C (n.*750G>C)
c.*1737G>C (n.*1737G>C)
n.1659G>C
c.2244G>C (p.Val748=)
c.2403G>C (p.Val801=)
c.2006G>C
c.1585G>C
c.722G>C (p.Cys241Ser)
c.2100G>C (p.Val700=)
Xg.53985062C>TCA413252396PHF8c.1992G>A (p.Val664=)
c.2295G>A (p.Val765=)
c.*750G>A (n.*750G>A)
c.*1737G>A (n.*1737G>A)
n.1659G>A
c.2244G>A (p.Val748=)
c.2403G>A (p.Val801=)
c.2006G>A
c.1585G>A
c.722G>A (p.Cys241Tyr)
c.2100G>A (p.Val700=)
Xg.53985063A>CCA413252399PHF8c.1991T>G (p.Val664Gly)
c.2294T>G (p.Val765Gly)
c.*749T>G (n.*749T>G)
c.*1736T>G (n.*1736T>G)
n.1658T>G
c.2243T>G (p.Val748Gly)
c.2402T>G (p.Val801Gly)
c.2005T>G
c.1584T>G
c.721T>G (p.Cys241Gly)
c.2099T>G (p.Val700Gly)
Xg.53985063A>GCA413252401PHF8c.1991T>C (p.Val664Ala)
c.2294T>C (p.Val765Ala)
c.*749T>C (n.*749T>C)
c.*1736T>C (n.*1736T>C)
n.1658T>C
c.2243T>C (p.Val748Ala)
c.2402T>C (p.Val801Ala)
c.2005T>C
c.1584T>C
c.721T>C (p.Cys241Arg)
c.2099T>C (p.Val700Ala)
Xg.53985063A>TCA413252403PHF8c.1991T>A (p.Val664Glu)
c.2294T>A (p.Val765Glu)
c.*749T>A (n.*749T>A)
c.*1736T>A (n.*1736T>A)
n.1658T>A
c.2243T>A (p.Val748Glu)
c.2402T>A (p.Val801Glu)
c.2005T>A
c.1584T>A
c.721T>A (p.Cys241Ser)
c.2099T>A (p.Val700Glu)
Xg.53985064C>ACA413252406PHF8c.1990G>T (p.Val664Leu)
c.2293G>T (p.Val765Leu)
c.*748G>T (n.*748G>T)
c.*1735G>T (n.*1735G>T)
n.1657G>T
c.2242G>T (p.Val748Leu)
c.2401G>T (p.Val801Leu)
c.2004G>T
c.1583G>T
c.720G>T (p.Gln240His)
c.2098G>T (p.Val700Leu)
Xg.53985064C>GCA413252408PHF8c.1990G>C (p.Val664Leu)
c.2293G>C (p.Val765Leu)
c.*748G>C (n.*748G>C)
c.*1735G>C (n.*1735G>C)
n.1657G>C
c.2242G>C (p.Val748Leu)
c.2401G>C (p.Val801Leu)
c.2004G>C
c.1583G>C
c.720G>C (p.Gln240His)
c.2098G>C (p.Val700Leu)
Xg.53985064C>TCA413252410PHF8c.1990G>A (p.Val664Met)
c.2293G>A (p.Val765Met)
c.*748G>A (n.*748G>A)
c.*1735G>A (n.*1735G>A)
n.1657G>A
c.2242G>A (p.Val748Met)
c.2401G>A (p.Val801Met)
c.2004G>A
c.1583G>A
c.720G>A (p.Gln240=)
c.2098G>A (p.Val700Met)
Xg.53985065T>ACA413252417PHF8c.1989A>T (p.Thr663=)
c.2292A>T (p.Thr764=)
c.*747A>T (n.*747A>T)
c.*1734A>T (n.*1734A>T)
n.1656A>T
c.2241A>T (p.Thr747=)
c.2400A>T (p.Thr800=)
c.2003A>T
c.1582A>T
c.719A>T (p.Gln240Leu)
c.2097A>T (p.Thr699=)
Xg.53985065T>CCA10423312PHF8c.1989A>G (p.Thr663=)
c.2292A>G (p.Thr764=)
c.*747A>G (n.*747A>G)
c.*1734A>G (n.*1734A>G)
n.1656A>G
c.2241A>G (p.Thr747=)
c.2400A>G (p.Thr800=)
c.2003A>G
c.1582A>G
c.719A>G (p.Gln240Arg)
c.2097A>G (p.Thr699=)
 dbSNP ExAC gnomAD v2
Xg.53985065T>GCA413252415PHF8c.1989A>C (p.Thr663=)
c.2292A>C (p.Thr764=)
c.*747A>C (n.*747A>C)
c.*1734A>C (n.*1734A>C)
n.1656A>C
c.2241A>C (p.Thr747=)
c.2400A>C (p.Thr800=)
c.2003A>C
c.1582A>C
c.719A>C (p.Gln240Pro)
c.2097A>C (p.Thr699=)
Xg.53985065T=CA2430030685PHF8c.1989A= (p.Thr663=)
c.2292A= (p.Thr764=)
c.*747A= (n.*747A=)
c.*1734A= (n.*1734A=)
n.1656A=
c.2241A= (p.Thr747=)
c.2400A= (p.Thr800=)
c.2003A=
c.1582A=
c.719A= (p.Gln240=)
c.2097A= (p.Thr699=)
Xg.53985066G>ACA413252420PHF8c.1988C>T (p.Thr663Ile)
c.2291C>T (p.Thr764Ile)
c.*746C>T (n.*746C>T)
c.*1733C>T (n.*1733C>T)
n.1655C>T
c.2240C>T (p.Thr747Ile)
c.2399C>T (p.Thr800Ile)
c.2002C>T
c.1581C>T
c.718C>T (p.Gln240Ter)
c.2096C>T (p.Thr699Ile)
Xg.53985066G>CCA413252425PHF8c.1988C>G (p.Thr663Arg)
c.2291C>G (p.Thr764Arg)
c.*746C>G (n.*746C>G)
c.*1733C>G (n.*1733C>G)
n.1655C>G
c.2240C>G (p.Thr747Arg)
c.2399C>G (p.Thr800Arg)
c.2002C>G
c.1581C>G
c.718C>G (p.Gln240Glu)
c.2096C>G (p.Thr699Arg)
Xg.53985066G=CA2430030686PHF8c.1988C= (p.Thr663=)
c.2291C= (p.Thr764=)
c.*746C= (n.*746C=)
c.*1733C= (n.*1733C=)
n.1655C=
c.2240C= (p.Thr747=)
c.2399C= (p.Thr800=)
c.2002C=
c.1581C=
c.718C= (p.Gln240=)
c.2096C= (p.Thr699=)
Xg.53985066G>TCA10423313PHF8c.1988C>A (p.Thr663Lys)
c.2291C>A (p.Thr764Lys)
c.*746C>A (n.*746C>A)
c.*1733C>A (n.*1733C>A)
n.1655C>A
c.2240C>A (p.Thr747Lys)
c.2399C>A (p.Thr800Lys)
c.2002C>A
c.1581C>A
c.718C>A (p.Gln240Lys)
c.2096C>A (p.Thr699Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985067T>ACA413252428PHF8c.1987A>T (p.Thr663Ser)
c.2290A>T (p.Thr764Ser)
c.*745A>T (n.*745A>T)
c.*1732A>T (n.*1732A>T)
n.1654A>T
c.2239A>T (p.Thr747Ser)
c.2398A>T (p.Thr800Ser)
c.2001A>T
c.1580A>T
c.717A>T (p.Ala239=)
c.2095A>T (p.Thr699Ser)
Xg.53985067T>CCA10423314PHF8c.1987A>G (p.Thr663Ala)
c.2290A>G (p.Thr764Ala)
c.*745A>G (n.*745A>G)
c.*1732A>G (n.*1732A>G)
n.1654A>G
c.2239A>G (p.Thr747Ala)
c.2398A>G (p.Thr800Ala)
c.2001A>G
c.1580A>G
c.717A>G (p.Ala239=)
c.2095A>G (p.Thr699Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985067T>GCA413252432PHF8c.1987A>C (p.Thr663Pro)
c.2290A>C (p.Thr764Pro)
c.*745A>C (n.*745A>C)
c.*1732A>C (n.*1732A>C)
n.1654A>C
c.2239A>C (p.Thr747Pro)
c.2398A>C (p.Thr800Pro)
c.2001A>C
c.1580A>C
c.717A>C (p.Ala239=)
c.2095A>C (p.Thr699Pro)
 dbSNP gnomAD v2 gnomAD v4
Xg.53985067T=CA2430030687PHF8c.1987A= (p.Thr663=)
c.2290A= (p.Thr764=)
c.*745A= (n.*745A=)
c.*1732A= (n.*1732A=)
n.1654A=
c.2239A= (p.Thr747=)
c.2398A= (p.Thr800=)
c.2001A=
c.1580A=
c.717A= (p.Ala239=)
c.2095A= (p.Thr699=)
Xg.53985068G>ACA413252435PHF8c.1986C>T (p.Gly662=)
c.2289C>T (p.Gly763=)
c.*744C>T (n.*744C>T)
c.*1731C>T (n.*1731C>T)
n.1653C>T
c.2238C>T (p.Gly746=)
c.2397C>T (p.Gly799=)
c.2000C>T
c.1579C>T
c.716C>T (p.Ala239Val)
c.2094C>T (p.Gly698=)
Xg.53985068G>CCA413252438PHF8c.1986C>G (p.Gly662=)
c.2289C>G (p.Gly763=)
c.*744C>G (n.*744C>G)
c.*1731C>G (n.*1731C>G)
n.1653C>G
c.2238C>G (p.Gly746=)
c.2397C>G (p.Gly799=)
c.2000C>G
c.1579C>G
c.716C>G (p.Ala239Gly)
c.2094C>G (p.Gly698=)
Xg.53985068G>TCA413252440PHF8c.1986C>A (p.Gly662=)
c.2289C>A (p.Gly763=)
c.*744C>A (n.*744C>A)
c.*1731C>A (n.*1731C>A)
n.1653C>A
c.2238C>A (p.Gly746=)
c.2397C>A (p.Gly799=)
c.2000C>A
c.1579C>A
c.716C>A (p.Ala239Glu)
c.2094C>A (p.Gly698=)
Xg.53985069C>ACA413252443PHF8c.1985G>T (p.Gly662Val)
c.2288G>T (p.Gly763Val)
c.*743G>T (n.*743G>T)
c.*1730G>T (n.*1730G>T)
n.1652G>T
c.2237G>T (p.Gly746Val)
c.2396G>T (p.Gly799Val)
c.1999G>T
c.1578G>T
c.715G>T (p.Ala239Ser)
c.2093G>T (p.Gly698Val)
Xg.53985069C>GCA413252445PHF8c.1985G>C (p.Gly662Ala)
c.2288G>C (p.Gly763Ala)
c.*743G>C (n.*743G>C)
c.*1730G>C (n.*1730G>C)
n.1652G>C
c.2237G>C (p.Gly746Ala)
c.2396G>C (p.Gly799Ala)
c.1999G>C
c.1578G>C
c.715G>C (p.Ala239Pro)
c.2093G>C (p.Gly698Ala)
Xg.53985069C>TCA413252448PHF8c.1985G>A (p.Gly662Asp)
c.2288G>A (p.Gly763Asp)
c.*743G>A (n.*743G>A)
c.*1730G>A (n.*1730G>A)
n.1652G>A
c.2237G>A (p.Gly746Asp)
c.2396G>A (p.Gly799Asp)
c.1999G>A
c.1578G>A
c.715G>A (p.Ala239Thr)
c.2093G>A (p.Gly698Asp)
Xg.53985070C>ACA413252450PHF8c.1984G>T (p.Gly662Cys)
c.2287G>T (p.Gly763Cys)
c.*742G>T (n.*742G>T)
c.*1729G>T (n.*1729G>T)
n.1651G>T
c.2236G>T (p.Gly746Cys)
c.2395G>T (p.Gly799Cys)
c.1998G>T
c.1577G>T
c.714G>T (p.Trp238Cys)
c.2092G>T (p.Gly698Cys)
Xg.53985070C>GCA413252453PHF8c.1984G>C (p.Gly662Arg)
c.2287G>C (p.Gly763Arg)
c.*742G>C (n.*742G>C)
c.*1729G>C (n.*1729G>C)
n.1651G>C
c.2236G>C (p.Gly746Arg)
c.2395G>C (p.Gly799Arg)
c.1998G>C
c.1577G>C
c.714G>C (p.Trp238Cys)
c.2092G>C (p.Gly698Arg)
Xg.53985070C>TCA413252455PHF8c.1984G>A (p.Gly662Ser)
c.2287G>A (p.Gly763Ser)
c.*742G>A (n.*742G>A)
c.*1729G>A (n.*1729G>A)
n.1651G>A
c.2236G>A (p.Gly746Ser)
c.2395G>A (p.Gly799Ser)
c.1998G>A
c.1577G>A
c.714G>A (p.Trp238Ter)
c.2092G>A (p.Gly698Ser)
Xg.53985071C>ACA413252463PHF8c.1983G>T (p.Leu661=)
c.2286G>T (p.Leu762=)
c.*741G>T (n.*741G>T)
c.*1728G>T (n.*1728G>T)
n.1650G>T
c.2235G>T (p.Leu745=)
c.2394G>T (p.Leu798=)
c.1997G>T
c.1576G>T
c.713G>T (p.Trp238Leu)
c.2091G>T (p.Leu697=)
Xg.53985071C>GCA413252458PHF8c.1983G>C (p.Leu661=)
c.2286G>C (p.Leu762=)
c.*741G>C (n.*741G>C)
c.*1728G>C (n.*1728G>C)
n.1650G>C
c.2235G>C (p.Leu745=)
c.2394G>C (p.Leu798=)
c.1997G>C
c.1576G>C
c.713G>C (p.Trp238Ser)
c.2091G>C (p.Leu697=)
Xg.53985071C>TCA413252460PHF8c.1983G>A (p.Leu661=)
c.2286G>A (p.Leu762=)
c.*741G>A (n.*741G>A)
c.*1728G>A (n.*1728G>A)
n.1650G>A
c.2235G>A (p.Leu745=)
c.2394G>A (p.Leu798=)
c.1997G>A
c.1576G>A
c.713G>A (p.Trp238Ter)
c.2091G>A (p.Leu697=)
Xg.53985072A>CCA413252466PHF8c.1982T>G (p.Leu661Arg)
c.2285T>G (p.Leu762Arg)
c.*740T>G (n.*740T>G)
c.*1727T>G (n.*1727T>G)
n.1649T>G
c.2234T>G (p.Leu745Arg)
c.2393T>G (p.Leu798Arg)
c.1996T>G
c.1575T>G
c.712T>G (p.Trp238Gly)
c.2090T>G (p.Leu697Arg)
Xg.53985072A>GCA413252468PHF8c.1982T>C (p.Leu661Pro)
c.2285T>C (p.Leu762Pro)
c.*740T>C (n.*740T>C)
c.*1727T>C (n.*1727T>C)
n.1649T>C
c.2234T>C (p.Leu745Pro)
c.2393T>C (p.Leu798Pro)
c.1996T>C
c.1575T>C
c.712T>C (p.Trp238Arg)
c.2090T>C (p.Leu697Pro)
Xg.53985072A>TCA413252470PHF8c.1982T>A (p.Leu661Gln)
c.2285T>A (p.Leu762Gln)
c.*740T>A (n.*740T>A)
c.*1727T>A (n.*1727T>A)
n.1649T>A
c.2234T>A (p.Leu745Gln)
c.2393T>A (p.Leu798Gln)
c.1996T>A
c.1575T>A
c.712T>A (p.Trp238Arg)
c.2090T>A (p.Leu697Gln)
Xg.53985073G>ACA516688920PHF8c.1981C>T (p.Leu661=)
c.2284C>T (p.Leu762=)
c.*739C>T (n.*739C>T)
c.*1726C>T (n.*1726C>T)
n.1648C>T
c.2233C>T (p.Leu745=)
c.2392C>T (p.Leu798=)
c.1995C>T
c.1574C>T
c.711C>T (p.Gly237=)
c.2089C>T (p.Leu697=)
 COSMIC COSMIC COSMIC COSMIC
Xg.53985073G>CCA413252473PHF8c.1981C>G (p.Leu661Val)
c.2284C>G (p.Leu762Val)
c.*739C>G (n.*739C>G)
c.*1726C>G (n.*1726C>G)
n.1648C>G
c.2233C>G (p.Leu745Val)
c.2392C>G (p.Leu798Val)
c.1995C>G
c.1574C>G
c.711C>G (p.Gly237=)
c.2089C>G (p.Leu697Val)
Xg.53985073G=CA2430030688PHF8c.1981C= (p.Leu661=)
c.2284C= (p.Leu762=)
c.*739C= (n.*739C=)
c.*1726C= (n.*1726C=)
n.1648C=
c.2233C= (p.Leu745=)
c.2392C= (p.Leu798=)
c.1995C=
c.1574C=
c.711C= (p.Gly237=)
c.2089C= (p.Leu697=)
Xg.53985073G>TCA10423315PHF8c.1981C>A (p.Leu661Met)
c.2284C>A (p.Leu762Met)
c.*739C>A (n.*739C>A)
c.*1726C>A (n.*1726C>A)
n.1648C>A
c.2233C>A (p.Leu745Met)
c.2392C>A (p.Leu798Met)
c.1995C>A
c.1574C>A
c.711C>A (p.Gly237=)
c.2089C>A (p.Leu697Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53985074C>ACA413252477PHF8c.1980G>T (p.Gly660=)
c.2283G>T (p.Gly761=)
c.*738G>T (n.*738G>T)
c.*1725G>T (n.*1725G>T)
n.1647G>T
c.2232G>T (p.Gly744=)
c.2391G>T (p.Gly797=)
c.1994G>T
c.1573G>T
c.710G>T (p.Gly237Val)
c.2088G>T (p.Gly696=)
Xg.53985074C>GCA413252479PHF8c.1980G>C (p.Gly660=)
c.2283G>C (p.Gly761=)
c.*738G>C (n.*738G>C)
c.*1725G>C (n.*1725G>C)
n.1647G>C
c.2232G>C (p.Gly744=)
c.2391G>C (p.Gly797=)
c.1994G>C
c.1573G>C
c.710G>C (p.Gly237Ala)
c.2088G>C (p.Gly696=)
 gnomAD v4
Xg.53985074C>TCA413252483PHF8c.1980G>A (p.Gly660=)
c.2283G>A (p.Gly761=)
c.*738G>A (n.*738G>A)
c.*1725G>A (n.*1725G>A)
n.1647G>A
c.2232G>A (p.Gly744=)
c.2391G>A (p.Gly797=)
c.1994G>A
c.1573G>A
c.710G>A (p.Gly237Asp)
c.2088G>A (p.Gly696=)
 gnomAD v4
Xg.53985075C>ACA413252486PHF8c.1979G>T (p.Gly660Val)
c.2282G>T (p.Gly761Val)
c.*737G>T (n.*737G>T)
c.*1724G>T (n.*1724G>T)
n.1646G>T
c.2231G>T (p.Gly744Val)
c.2390G>T (p.Gly797Val)
c.1993G>T
c.1572G>T
c.709G>T (p.Gly237Cys)
c.2087G>T (p.Gly696Val)
Xg.53985075C>GCA413252488PHF8c.1979G>C (p.Gly660Ala)
c.2282G>C (p.Gly761Ala)
c.*737G>C (n.*737G>C)
c.*1724G>C (n.*1724G>C)
n.1646G>C
c.2231G>C (p.Gly744Ala)
c.2390G>C (p.Gly797Ala)
c.1993G>C
c.1572G>C
c.709G>C (p.Gly237Arg)
c.2087G>C (p.Gly696Ala)
Xg.53985075C>TCA413252490PHF8c.1979G>A (p.Gly660Glu)
c.2282G>A (p.Gly761Glu)
c.*737G>A (n.*737G>A)
c.*1724G>A (n.*1724G>A)
n.1646G>A
c.2231G>A (p.Gly744Glu)
c.2390G>A (p.Gly797Glu)
c.1993G>A
c.1572G>A
c.709G>A (p.Gly237Ser)
c.2087G>A (p.Gly696Glu)
Xg.53985076C>ACA413252498PHF8c.1978G>T (p.Gly660Trp)
c.2281G>T (p.Gly761Trp)
c.*736G>T (n.*736G>T)
c.*1723G>T (n.*1723G>T)
n.1645G>T
c.2230G>T (p.Gly744Trp)
c.2389G>T (p.Gly797Trp)
c.1992G>T
c.1571G>T
c.708G>T (p.Val236=)
c.2086G>T (p.Gly696Trp)
Xg.53985076C>GCA413252496PHF8c.1978G>C (p.Gly660Arg)
c.2281G>C (p.Gly761Arg)
c.*736G>C (n.*736G>C)
c.*1723G>C (n.*1723G>C)
n.1645G>C
c.2230G>C (p.Gly744Arg)
c.2389G>C (p.Gly797Arg)
c.1992G>C
c.1571G>C
c.708G>C (p.Val236=)
c.2086G>C (p.Gly696Arg)
Xg.53985076C>TCA413252494PHF8c.1978G>A (p.Gly660Arg)
c.2281G>A (p.Gly761Arg)
c.*736G>A (n.*736G>A)
c.*1723G>A (n.*1723G>A)
n.1645G>A
c.2230G>A (p.Gly744Arg)
c.2389G>A (p.Gly797Arg)
c.1992G>A
c.1571G>A
c.708G>A (p.Val236=)
c.2086G>A (p.Gly696Arg)
Xg.53985077A=CA2430030689PHF8c.1977T= (p.Ser659=)
c.2280T= (p.Ser760=)
c.*735T= (n.*735T=)
c.*1722T= (n.*1722T=)
n.1644T=
c.2229T= (p.Ser743=)
c.2388T= (p.Ser796=)
c.1991T=
c.1570T=
c.707T= (p.Val236=)
c.2085T= (p.Ser695=)
Xg.53985077A>CCA413252504PHF8c.1977T>G (p.Ser659Arg)
c.2280T>G (p.Ser760Arg)
c.*735T>G (n.*735T>G)
c.*1722T>G (n.*1722T>G)
n.1644T>G
c.2229T>G (p.Ser743Arg)
c.2388T>G (p.Ser796Arg)
c.1991T>G
c.1570T>G
c.707T>G (p.Val236Gly)
c.2085T>G (p.Ser695Arg)
Xg.53985077A>GCA413252501PHF8c.1977T>C (p.Ser659=)
c.2280T>C (p.Ser760=)
c.*735T>C (n.*735T>C)
c.*1722T>C (n.*1722T>C)
n.1644T>C
c.2229T>C (p.Ser743=)
c.2388T>C (p.Ser796=)
c.1991T>C
c.1570T>C
c.707T>C (p.Val236Ala)
c.2085T>C (p.Ser695=)
 dbSNP gnomAD v4
Xg.53985077A>TCA413252503PHF8c.1977T>A (p.Ser659Arg)
c.2280T>A (p.Ser760Arg)
c.*735T>A (n.*735T>A)
c.*1722T>A (n.*1722T>A)
n.1644T>A
c.2229T>A (p.Ser743Arg)
c.2388T>A (p.Ser796Arg)
c.1991T>A
c.1570T>A
c.707T>A (p.Val236Glu)
c.2085T>A (p.Ser695Arg)
Xg.53985078C>ACA413252507PHF8c.1976G>T (p.Ser659Ile)
c.2279G>T (p.Ser760Ile)
c.*734G>T (n.*734G>T)
c.*1721G>T (n.*1721G>T)
n.1643G>T
c.2228G>T (p.Ser743Ile)
c.2387G>T (p.Ser796Ile)
c.1990G>T
c.1569G>T
c.706G>T (p.Val236Leu)
c.2084G>T (p.Ser695Ile)
Xg.53985078C>GCA413252509PHF8c.1976G>C (p.Ser659Thr)
c.2279G>C (p.Ser760Thr)
c.*734G>C (n.*734G>C)
c.*1721G>C (n.*1721G>C)
n.1643G>C
c.2228G>C (p.Ser743Thr)
c.2387G>C (p.Ser796Thr)
c.1990G>C
c.1569G>C
c.706G>C (p.Val236Leu)
c.2084G>C (p.Ser695Thr)
Xg.53985078C>TCA413252511PHF8c.1976G>A (p.Ser659Asn)
c.2279G>A (p.Ser760Asn)
c.*734G>A (n.*734G>A)
c.*1721G>A (n.*1721G>A)
n.1643G>A
c.2228G>A (p.Ser743Asn)
c.2387G>A (p.Ser796Asn)
c.1990G>A
c.1569G>A
c.706G>A (p.Val236Met)
c.2084G>A (p.Ser695Asn)
Xg.53985079T>ACA413252519PHF8c.1975A>T (p.Ser659Cys)
c.2278A>T (p.Ser760Cys)
c.*733A>T (n.*733A>T)
c.*1720A>T (n.*1720A>T)
n.1642A>T
c.2227A>T (p.Ser743Cys)
c.2386A>T (p.Ser796Cys)
c.1989A>T
c.1568A>T
c.705A>T (p.Ala235=)
c.2083A>T (p.Ser695Cys)
Xg.53985079T>CCA413252517PHF8c.1975A>G (p.Ser659Gly)
c.2278A>G (p.Ser760Gly)
c.*733A>G (n.*733A>G)
c.*1720A>G (n.*1720A>G)
n.1642A>G
c.2227A>G (p.Ser743Gly)
c.2386A>G (p.Ser796Gly)
c.1989A>G
c.1568A>G
c.705A>G (p.Ala235=)
c.2083A>G (p.Ser695Gly)
Xg.53985079T>GCA413252514PHF8c.1975A>C (p.Ser659Arg)
c.2278A>C (p.Ser760Arg)
c.*733A>C (n.*733A>C)
c.*1720A>C (n.*1720A>C)
n.1642A>C
c.2227A>C (p.Ser743Arg)
c.2386A>C (p.Ser796Arg)
c.1989A>C
c.1568A>C
c.705A>C (p.Ala235=)
c.2083A>C (p.Ser695Arg)
Xg.53985080G>ACA413252522PHF8c.1974C>T (p.Ser658=)
c.2277C>T (p.Ser759=)
c.*732C>T (n.*732C>T)
c.*1719C>T (n.*1719C>T)
n.1641C>T
c.2226C>T (p.Ser742=)
c.2385C>T (p.Ser795=)
c.1988C>T
c.1567C>T
c.704C>T (p.Ala235Val)
c.2082C>T (p.Ser694=)
Xg.53985080G>CCA413252523PHF8c.1974C>G (p.Ser658Arg)
c.2277C>G (p.Ser759Arg)
c.*732C>G (n.*732C>G)
c.*1719C>G (n.*1719C>G)
n.1641C>G
c.2226C>G (p.Ser742Arg)
c.2385C>G (p.Ser795Arg)
c.1988C>G
c.1567C>G
c.704C>G (p.Ala235Gly)
c.2082C>G (p.Ser694Arg)
Xg.53985080G>TCA413252526PHF8c.1974C>A (p.Ser658Arg)
c.2277C>A (p.Ser759Arg)
c.*732C>A (n.*732C>A)
c.*1719C>A (n.*1719C>A)
n.1641C>A
c.2226C>A (p.Ser742Arg)
c.2385C>A (p.Ser795Arg)
c.1988C>A
c.1567C>A
c.704C>A (p.Ala235Glu)
c.2082C>A (p.Ser694Arg)
Xg.53985081C>ACA413252529PHF8c.1973G>T (p.Ser658Ile)
c.2276G>T (p.Ser759Ile)
c.*731G>T (n.*731G>T)
c.*1718G>T (n.*1718G>T)
n.1640G>T
c.2225G>T (p.Ser742Ile)
c.2384G>T (p.Ser795Ile)
c.1987G>T
c.1566G>T
c.703G>T (p.Ala235Ser)
c.2081G>T (p.Ser694Ile)
Xg.53985081C=CA2430030690PHF8c.1973G= (p.Ser658=)
c.2276G= (p.Ser759=)
c.*731G= (n.*731G=)
c.*1718G= (n.*1718G=)
n.1640G=
c.2225G= (p.Ser742=)
c.2384G= (p.Ser795=)
c.1987G=
c.1566G=
c.703G= (p.Ala235=)
c.2081G= (p.Ser694=)
Xg.53985081C>GCA10423316PHF8c.1973G>C (p.Ser658Thr)
c.2276G>C (p.Ser759Thr)
c.*731G>C (n.*731G>C)
c.*1718G>C (n.*1718G>C)
n.1640G>C
c.2225G>C (p.Ser742Thr)
c.2384G>C (p.Ser795Thr)
c.1987G>C
c.1566G>C
c.703G>C (p.Ala235Pro)
c.2081G>C (p.Ser694Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53985081C>TCA413252533PHF8c.1973G>A (p.Ser658Asn)
c.2276G>A (p.Ser759Asn)
c.*731G>A (n.*731G>A)
c.*1718G>A (n.*1718G>A)
n.1640G>A
c.2225G>A (p.Ser742Asn)
c.2384G>A (p.Ser795Asn)
c.1987G>A
c.1566G>A
c.703G>A (p.Ala235Thr)
c.2081G>A (p.Ser694Asn)
 gnomAD v4

Number of alleles fetched