Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112840128_112843000delCA2582341313APCc.4588_7460del (p.Asp1530Ter)
c.*4540_*7412del (n.*4540_*7412del)
c.4480_7352del (p.Asp1494Ter)
c.4534_7406del (p.Asp1512Ter)
c.230+11156_231-13649del
c.4564_7436del (p.Asp1522Ter)
c.4459_7331del (p.Asp1487Ter)
c.4450_7322del (p.Asp1484Ter)
c.4411_7283del (p.Asp1471Ter)
c.4357_7229del (p.Asp1453Ter)
c.4261_7133del (p.Asp1421Ter)
c.4231_7103del (p.Asp1411Ter)
c.4156_7028del (p.Asp1386Ter)
c.4054_6926del (p.Asp1352Ter)
c.3685_6557del (p.Asp1229Ter)
ClinVar
5g.112842906_112842908dupCA1139659002APCc.7366_7368dup (p.Val2456_Arg2457insVal)
c.*7318_*7320dup (n.*7318_*7320dup)
c.7258_7260dup (p.Val2420_Arg2421insVal)
c.7312_7314dup (p.Val2438_Arg2439insVal)
c.231-13743_231-13741dup
c.7342_7344dup (p.Val2448_Arg2449insVal)
c.7237_7239dup (p.Val2413_Arg2414insVal)
c.7228_7230dup (p.Val2410_Arg2411insVal)
c.7189_7191dup (p.Val2397_Arg2398insVal)
c.7135_7137dup (p.Val2379_Arg2380insVal)
c.7039_7041dup (p.Val2347_Arg2348insVal)
c.7009_7011dup (p.Val2337_Arg2338insVal)
c.6934_6936dup (p.Val2312_Arg2313insVal)
c.6832_6834dup (p.Val2278_Arg2279insVal)
c.6463_6465dup (p.Val2155_Arg2156insVal)
ClinVar dbSNP
5g.112842907T>ACA16037256APCc.7367T>A (p.Val2456Glu)
c.*7319T>A (n.*7319T>A)
c.7259T>A (p.Val2420Glu)
c.7313T>A (p.Val2438Glu)
c.231-13742T>A
c.7343T>A (p.Val2448Glu)
c.7238T>A (p.Val2413Glu)
c.7229T>A (p.Val2410Glu)
c.7190T>A (p.Val2397Glu)
c.7136T>A (p.Val2379Glu)
c.7040T>A (p.Val2347Glu)
c.7010T>A (p.Val2337Glu)
c.6935T>A (p.Val2312Glu)
c.6833T>A (p.Val2278Glu)
c.6464T>A (p.Val2155Glu)
ClinVar dbSNP
5g.112842907T>CCA16037257APCc.7367T>C (p.Val2456Ala)
c.*7319T>C (n.*7319T>C)
c.7259T>C (p.Val2420Ala)
c.7313T>C (p.Val2438Ala)
c.231-13742T>C
c.7343T>C (p.Val2448Ala)
c.7238T>C (p.Val2413Ala)
c.7229T>C (p.Val2410Ala)
c.7190T>C (p.Val2397Ala)
c.7136T>C (p.Val2379Ala)
c.7040T>C (p.Val2347Ala)
c.7010T>C (p.Val2337Ala)
c.6935T>C (p.Val2312Ala)
c.6833T>C (p.Val2278Ala)
c.6464T>C (p.Val2155Ala)
dbSNP COSMIC
5g.112842907T>GCA16037258APCc.7367T>G (p.Val2456Gly)
c.*7319T>G (n.*7319T>G)
c.7259T>G (p.Val2420Gly)
c.7313T>G (p.Val2438Gly)
c.231-13742T>G
c.7343T>G (p.Val2448Gly)
c.7238T>G (p.Val2413Gly)
c.7229T>G (p.Val2410Gly)
c.7190T>G (p.Val2397Gly)
c.7136T>G (p.Val2379Gly)
c.7040T>G (p.Val2347Gly)
c.7010T>G (p.Val2337Gly)
c.6935T>G (p.Val2312Gly)
c.6833T>G (p.Val2278Gly)
c.6464T>G (p.Val2155Gly)
5g.112842908A>CCA446210254APCc.7368A>C (p.Val2456=)
c.*7320A>C (n.*7320A>C)
c.7260A>C (p.Val2420=)
c.7314A>C (p.Val2438=)
c.231-13741A>C
c.7344A>C (p.Val2448=)
c.7239A>C (p.Val2413=)
c.7230A>C (p.Val2410=)
c.7191A>C (p.Val2397=)
c.7137A>C (p.Val2379=)
c.7041A>C (p.Val2347=)
c.7011A>C (p.Val2337=)
c.6936A>C (p.Val2312=)
c.6834A>C (p.Val2278=)
c.6465A>C (p.Val2155=)
dbSNP
5g.112842908A>GCA446210255APCc.7368A>G (p.Val2456=)
c.*7320A>G (n.*7320A>G)
c.7260A>G (p.Val2420=)
c.7314A>G (p.Val2438=)
c.231-13741A>G
c.7344A>G (p.Val2448=)
c.7239A>G (p.Val2413=)
c.7230A>G (p.Val2410=)
c.7191A>G (p.Val2397=)
c.7137A>G (p.Val2379=)
c.7041A>G (p.Val2347=)
c.7011A>G (p.Val2337=)
c.6936A>G (p.Val2312=)
c.6834A>G (p.Val2278=)
c.6465A>G (p.Val2155=)
dbSNP
5g.112842908A>TCA446210256APCc.7368A>T (p.Val2456=)
c.*7320A>T (n.*7320A>T)
c.7260A>T (p.Val2420=)
c.7314A>T (p.Val2438=)
c.231-13741A>T
c.7344A>T (p.Val2448=)
c.7239A>T (p.Val2413=)
c.7230A>T (p.Val2410=)
c.7191A>T (p.Val2397=)
c.7137A>T (p.Val2379=)
c.7041A>T (p.Val2347=)
c.7011A>T (p.Val2337=)
c.6936A>T (p.Val2312=)
c.6834A>T (p.Val2278=)
c.6465A>T (p.Val2155=)
dbSNP
5g.112842909C>ACA16037259APCc.7369C>A (p.Arg2457Ser)
c.*7321C>A (n.*7321C>A)
c.7261C>A (p.Arg2421Ser)
c.7315C>A (p.Arg2439Ser)
c.231-13740C>A
c.7345C>A (p.Arg2449Ser)
c.7240C>A (p.Arg2414Ser)
c.7231C>A (p.Arg2411Ser)
c.7192C>A (p.Arg2398Ser)
c.7138C>A (p.Arg2380Ser)
c.7042C>A (p.Arg2348Ser)
c.7012C>A (p.Arg2338Ser)
c.6937C>A (p.Arg2313Ser)
c.6835C>A (p.Arg2279Ser)
c.6466C>A (p.Arg2156Ser)
dbSNP
5g.112842909C=CA1573469328APCc.7369C= (p.Arg2457=)
c.*7321C= (n.*7321C=)
c.7261C= (p.Arg2421=)
c.7315C= (p.Arg2439=)
c.231-13740C=
c.7345C= (p.Arg2449=)
c.7240C= (p.Arg2414=)
c.7231C= (p.Arg2411=)
c.7192C= (p.Arg2398=)
c.7138C= (p.Arg2380=)
c.7042C= (p.Arg2348=)
c.7012C= (p.Arg2338=)
c.6937C= (p.Arg2313=)
c.6835C= (p.Arg2279=)
c.6466C= (p.Arg2156=)
5g.112842909C>GCA16037260APCc.7369C>G (p.Arg2457Gly)
c.*7321C>G (n.*7321C>G)
c.7261C>G (p.Arg2421Gly)
c.7315C>G (p.Arg2439Gly)
c.231-13740C>G
c.7345C>G (p.Arg2449Gly)
c.7240C>G (p.Arg2414Gly)
c.7231C>G (p.Arg2411Gly)
c.7192C>G (p.Arg2398Gly)
c.7138C>G (p.Arg2380Gly)
c.7042C>G (p.Arg2348Gly)
c.7012C>G (p.Arg2338Gly)
c.6937C>G (p.Arg2313Gly)
c.6835C>G (p.Arg2279Gly)
c.6466C>G (p.Arg2156Gly)
dbSNP
5g.112842909C>TCA16037261APCc.7369C>T (p.Arg2457Cys)
c.*7321C>T (n.*7321C>T)
c.7261C>T (p.Arg2421Cys)
c.7315C>T (p.Arg2439Cys)
c.231-13740C>T
c.7345C>T (p.Arg2449Cys)
c.7240C>T (p.Arg2414Cys)
c.7231C>T (p.Arg2411Cys)
c.7192C>T (p.Arg2398Cys)
c.7138C>T (p.Arg2380Cys)
c.7042C>T (p.Arg2348Cys)
c.7012C>T (p.Arg2338Cys)
c.6937C>T (p.Arg2313Cys)
c.6835C>T (p.Arg2279Cys)
c.6466C>T (p.Arg2156Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112842910G>ACA16037262APCc.7370G>A (p.Arg2457His)
c.*7322G>A (n.*7322G>A)
c.7262G>A (p.Arg2421His)
c.7316G>A (p.Arg2439His)
c.231-13739G>A
c.7346G>A (p.Arg2449His)
c.7241G>A (p.Arg2414His)
c.7232G>A (p.Arg2411His)
c.7193G>A (p.Arg2398His)
c.7139G>A (p.Arg2380His)
c.7043G>A (p.Arg2348His)
c.7013G>A (p.Arg2338His)
c.6938G>A (p.Arg2313His)
c.6836G>A (p.Arg2279His)
c.6467G>A (p.Arg2156His)
ClinVar dbSNP gnomAD v4
5g.112842910G>CCA16037263APCc.7370G>C (p.Arg2457Pro)
c.*7322G>C (n.*7322G>C)
c.7262G>C (p.Arg2421Pro)
c.7316G>C (p.Arg2439Pro)
c.231-13739G>C
c.7346G>C (p.Arg2449Pro)
c.7241G>C (p.Arg2414Pro)
c.7232G>C (p.Arg2411Pro)
c.7193G>C (p.Arg2398Pro)
c.7139G>C (p.Arg2380Pro)
c.7043G>C (p.Arg2348Pro)
c.7013G>C (p.Arg2338Pro)
c.6938G>C (p.Arg2313Pro)
c.6836G>C (p.Arg2279Pro)
c.6467G>C (p.Arg2156Pro)
5g.112842910G=CA1573469336APCc.7370G= (p.Arg2457=)
c.*7322G= (n.*7322G=)
c.7262G= (p.Arg2421=)
c.7316G= (p.Arg2439=)
c.231-13739G=
c.7346G= (p.Arg2449=)
c.7241G= (p.Arg2414=)
c.7232G= (p.Arg2411=)
c.7193G= (p.Arg2398=)
c.7139G= (p.Arg2380=)
c.7043G= (p.Arg2348=)
c.7013G= (p.Arg2338=)
c.6938G= (p.Arg2313=)
c.6836G= (p.Arg2279=)
c.6467G= (p.Arg2156=)
5g.112842910G>TCA16037264APCc.7370G>T (p.Arg2457Leu)
c.*7322G>T (n.*7322G>T)
c.7262G>T (p.Arg2421Leu)
c.7316G>T (p.Arg2439Leu)
c.231-13739G>T
c.7346G>T (p.Arg2449Leu)
c.7241G>T (p.Arg2414Leu)
c.7232G>T (p.Arg2411Leu)
c.7193G>T (p.Arg2398Leu)
c.7139G>T (p.Arg2380Leu)
c.7043G>T (p.Arg2348Leu)
c.7013G>T (p.Arg2338Leu)
c.6938G>T (p.Arg2313Leu)
c.6836G>T (p.Arg2279Leu)
c.6467G>T (p.Arg2156Leu)
dbSNP gnomAD v2 gnomAD v4
5g.112842911C>ACA446210257APCc.7371C>A (p.Arg2457=)
c.*7323C>A (n.*7323C>A)
c.7263C>A (p.Arg2421=)
c.7317C>A (p.Arg2439=)
c.231-13738C>A
c.7347C>A (p.Arg2449=)
c.7242C>A (p.Arg2414=)
c.7233C>A (p.Arg2411=)
c.7194C>A (p.Arg2398=)
c.7140C>A (p.Arg2380=)
c.7044C>A (p.Arg2348=)
c.7014C>A (p.Arg2338=)
c.6939C>A (p.Arg2313=)
c.6837C>A (p.Arg2279=)
c.6468C>A (p.Arg2156=)
dbSNP
5g.112842911C>GCA446210258APCc.7371C>G (p.Arg2457=)
c.*7323C>G (n.*7323C>G)
c.7263C>G (p.Arg2421=)
c.7317C>G (p.Arg2439=)
c.231-13738C>G
c.7347C>G (p.Arg2449=)
c.7242C>G (p.Arg2414=)
c.7233C>G (p.Arg2411=)
c.7194C>G (p.Arg2398=)
c.7140C>G (p.Arg2380=)
c.7044C>G (p.Arg2348=)
c.7014C>G (p.Arg2338=)
c.6939C>G (p.Arg2313=)
c.6837C>G (p.Arg2279=)
c.6468C>G (p.Arg2156=)
dbSNP
5g.112842911C>TCA446210259APCc.7371C>T (p.Arg2457=)
c.*7323C>T (n.*7323C>T)
c.7263C>T (p.Arg2421=)
c.7317C>T (p.Arg2439=)
c.231-13738C>T
c.7347C>T (p.Arg2449=)
c.7242C>T (p.Arg2414=)
c.7233C>T (p.Arg2411=)
c.7194C>T (p.Arg2398=)
c.7140C>T (p.Arg2380=)
c.7044C>T (p.Arg2348=)
c.7014C>T (p.Arg2338=)
c.6939C>T (p.Arg2313=)
c.6837C>T (p.Arg2279=)
c.6468C>T (p.Arg2156=)
dbSNP gnomAD v4
5g.112842912C>ACA16037265APCc.7372C>A (p.Gln2458Lys)
c.*7324C>A (n.*7324C>A)
c.7264C>A (p.Gln2422Lys)
c.7318C>A (p.Gln2440Lys)
c.231-13737C>A
c.7348C>A (p.Gln2450Lys)
c.7243C>A (p.Gln2415Lys)
c.7234C>A (p.Gln2412Lys)
c.7195C>A (p.Gln2399Lys)
c.7141C>A (p.Gln2381Lys)
c.7045C>A (p.Gln2349Lys)
c.7015C>A (p.Gln2339Lys)
c.6940C>A (p.Gln2314Lys)
c.6838C>A (p.Gln2280Lys)
c.6469C>A (p.Gln2157Lys)
dbSNP gnomAD v2 gnomAD v4
5g.112842912C=CA1573469343APCc.7372C= (p.Gln2458=)
c.*7324C= (n.*7324C=)
c.7264C= (p.Gln2422=)
c.7318C= (p.Gln2440=)
c.231-13737C=
c.7348C= (p.Gln2450=)
c.7243C= (p.Gln2415=)
c.7234C= (p.Gln2412=)
c.7195C= (p.Gln2399=)
c.7141C= (p.Gln2381=)
c.7045C= (p.Gln2349=)
c.7015C= (p.Gln2339=)
c.6940C= (p.Gln2314=)
c.6838C= (p.Gln2280=)
c.6469C= (p.Gln2157=)
5g.112842912C>GCA16037266APCc.7372C>G (p.Gln2458Glu)
c.*7324C>G (n.*7324C>G)
c.7264C>G (p.Gln2422Glu)
c.7318C>G (p.Gln2440Glu)
c.231-13737C>G
c.7348C>G (p.Gln2450Glu)
c.7243C>G (p.Gln2415Glu)
c.7234C>G (p.Gln2412Glu)
c.7195C>G (p.Gln2399Glu)
c.7141C>G (p.Gln2381Glu)
c.7045C>G (p.Gln2349Glu)
c.7015C>G (p.Gln2339Glu)
c.6940C>G (p.Gln2314Glu)
c.6838C>G (p.Gln2280Glu)
c.6469C>G (p.Gln2157Glu)
dbSNP
5g.112842912C>TCA16037267APCc.7372C>T (p.Gln2458Ter)
c.*7324C>T (n.*7324C>T)
c.7264C>T (p.Gln2422Ter)
c.7318C>T (p.Gln2440Ter)
c.231-13737C>T
c.7348C>T (p.Gln2450Ter)
c.7243C>T (p.Gln2415Ter)
c.7234C>T (p.Gln2412Ter)
c.7195C>T (p.Gln2399Ter)
c.7141C>T (p.Gln2381Ter)
c.7045C>T (p.Gln2349Ter)
c.7015C>T (p.Gln2339Ter)
c.6940C>T (p.Gln2314Ter)
c.6838C>T (p.Gln2280Ter)
c.6469C>T (p.Gln2157Ter)
ClinVar dbSNP
5g.112842913A=CA1573469351APCc.7373A= (p.Gln2458=)
c.*7325A= (n.*7325A=)
c.7265A= (p.Gln2422=)
c.7319A= (p.Gln2440=)
c.231-13736A=
c.7349A= (p.Gln2450=)
c.7244A= (p.Gln2415=)
c.7235A= (p.Gln2412=)
c.7196A= (p.Gln2399=)
c.7142A= (p.Gln2381=)
c.7046A= (p.Gln2349=)
c.7016A= (p.Gln2339=)
c.6941A= (p.Gln2314=)
c.6839A= (p.Gln2280=)
c.6470A= (p.Gln2157=)
5g.112842913A>CCA16037268APCc.7373A>C (p.Gln2458Pro)
c.*7325A>C (n.*7325A>C)
c.7265A>C (p.Gln2422Pro)
c.7319A>C (p.Gln2440Pro)
c.231-13736A>C
c.7349A>C (p.Gln2450Pro)
c.7244A>C (p.Gln2415Pro)
c.7235A>C (p.Gln2412Pro)
c.7196A>C (p.Gln2399Pro)
c.7142A>C (p.Gln2381Pro)
c.7046A>C (p.Gln2349Pro)
c.7016A>C (p.Gln2339Pro)
c.6941A>C (p.Gln2314Pro)
c.6839A>C (p.Gln2280Pro)
c.6470A>C (p.Gln2157Pro)
gnomAD v4
5g.112842913A>GCA16037269APCc.7373A>G (p.Gln2458Arg)
c.*7325A>G (n.*7325A>G)
c.7265A>G (p.Gln2422Arg)
c.7319A>G (p.Gln2440Arg)
c.231-13736A>G
c.7349A>G (p.Gln2450Arg)
c.7244A>G (p.Gln2415Arg)
c.7235A>G (p.Gln2412Arg)
c.7196A>G (p.Gln2399Arg)
c.7142A>G (p.Gln2381Arg)
c.7046A>G (p.Gln2349Arg)
c.7016A>G (p.Gln2339Arg)
c.6941A>G (p.Gln2314Arg)
c.6839A>G (p.Gln2280Arg)
c.6470A>G (p.Gln2157Arg)
ClinVar dbSNP
5g.112842913A>TCA16037270APCc.7373A>T (p.Gln2458Leu)
c.*7325A>T (n.*7325A>T)
c.7265A>T (p.Gln2422Leu)
c.7319A>T (p.Gln2440Leu)
c.231-13736A>T
c.7349A>T (p.Gln2450Leu)
c.7244A>T (p.Gln2415Leu)
c.7235A>T (p.Gln2412Leu)
c.7196A>T (p.Gln2399Leu)
c.7142A>T (p.Gln2381Leu)
c.7046A>T (p.Gln2349Leu)
c.7016A>T (p.Gln2339Leu)
c.6941A>T (p.Gln2314Leu)
c.6839A>T (p.Gln2280Leu)
c.6470A>T (p.Gln2157Leu)
dbSNP
5g.112842913delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGTCA2582341624APCc.7373delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT (p.Gln2458ArgfsTer9)
c.*7325delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT (n.*7325delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT)
c.7265delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT (p.Gln2422ArgfsTer9)
c.7319delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT (p.Gln2440ArgfsTer9)
c.231-13736delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT
c.7349delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT (p.Gln2450ArgfsTer9)
c.7244delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT (p.Gln2415ArgfsTer9)
c.7235delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT (p.Gln2412ArgfsTer9)
c.7196delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT (p.Gln2399ArgfsTer9)
c.7142delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT (p.Gln2381ArgfsTer9)
c.7046delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT (p.Gln2349ArgfsTer9)
c.7016delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT (p.Gln2339ArgfsTer9)
c.6941delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT (p.Gln2314ArgfsTer9)
c.6839delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT (p.Gln2280ArgfsTer9)
c.6470delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT (p.Gln2157ArgfsTer9)
ClinVar
5g.112842914G>ACA446210260APCc.7374G>A (p.Gln2458=)
c.*7326G>A (n.*7326G>A)
c.7266G>A (p.Gln2422=)
c.7320G>A (p.Gln2440=)
c.231-13735G>A
c.7350G>A (p.Gln2450=)
c.7245G>A (p.Gln2415=)
c.7236G>A (p.Gln2412=)
c.7197G>A (p.Gln2399=)
c.7143G>A (p.Gln2381=)
c.7047G>A (p.Gln2349=)
c.7017G>A (p.Gln2339=)
c.6942G>A (p.Gln2314=)
c.6840G>A (p.Gln2280=)
c.6471G>A (p.Gln2157=)
ClinVar dbSNP
5g.112842914G>CCA16037271APCc.7374G>C (p.Gln2458His)
c.*7326G>C (n.*7326G>C)
c.7266G>C (p.Gln2422His)
c.7320G>C (p.Gln2440His)
c.231-13735G>C
c.7350G>C (p.Gln2450His)
c.7245G>C (p.Gln2415His)
c.7236G>C (p.Gln2412His)
c.7197G>C (p.Gln2399His)
c.7143G>C (p.Gln2381His)
c.7047G>C (p.Gln2349His)
c.7017G>C (p.Gln2339His)
c.6942G>C (p.Gln2314His)
c.6840G>C (p.Gln2280His)
c.6471G>C (p.Gln2157His)
ClinVar dbSNP
5g.112842914G=CA1573469369APCc.7374G= (p.Gln2458=)
c.*7326G= (n.*7326G=)
c.7266G= (p.Gln2422=)
c.7320G= (p.Gln2440=)
c.231-13735G=
c.7350G= (p.Gln2450=)
c.7245G= (p.Gln2415=)
c.7236G= (p.Gln2412=)
c.7197G= (p.Gln2399=)
c.7143G= (p.Gln2381=)
c.7047G= (p.Gln2349=)
c.7017G= (p.Gln2339=)
c.6942G= (p.Gln2314=)
c.6840G= (p.Gln2280=)
c.6471G= (p.Gln2157=)
5g.112842914G>TCA16037272APCc.7374G>T (p.Gln2458His)
c.*7326G>T (n.*7326G>T)
c.7266G>T (p.Gln2422His)
c.7320G>T (p.Gln2440His)
c.231-13735G>T
c.7350G>T (p.Gln2450His)
c.7245G>T (p.Gln2415His)
c.7236G>T (p.Gln2412His)
c.7197G>T (p.Gln2399His)
c.7143G>T (p.Gln2381His)
c.7047G>T (p.Gln2349His)
c.7017G>T (p.Gln2339His)
c.6942G>T (p.Gln2314His)
c.6840G>T (p.Gln2280His)
c.6471G>T (p.Gln2157His)
5g.112842915T>ACA16037273APCc.7375T>A (p.Ser2459Thr)
c.*7327T>A (n.*7327T>A)
c.7267T>A (p.Ser2423Thr)
c.7321T>A (p.Ser2441Thr)
c.231-13734T>A
c.7351T>A (p.Ser2451Thr)
c.7246T>A (p.Ser2416Thr)
c.7237T>A (p.Ser2413Thr)
c.7198T>A (p.Ser2400Thr)
c.7144T>A (p.Ser2382Thr)
c.7048T>A (p.Ser2350Thr)
c.7018T>A (p.Ser2340Thr)
c.6943T>A (p.Ser2315Thr)
c.6841T>A (p.Ser2281Thr)
c.6472T>A (p.Ser2158Thr)
ClinVar dbSNP
5g.112842915T>CCA16037274APCc.7375T>C (p.Ser2459Pro)
c.*7327T>C (n.*7327T>C)
c.7267T>C (p.Ser2423Pro)
c.7321T>C (p.Ser2441Pro)
c.231-13734T>C
c.7351T>C (p.Ser2451Pro)
c.7246T>C (p.Ser2416Pro)
c.7237T>C (p.Ser2413Pro)
c.7198T>C (p.Ser2400Pro)
c.7144T>C (p.Ser2382Pro)
c.7048T>C (p.Ser2350Pro)
c.7018T>C (p.Ser2340Pro)
c.6943T>C (p.Ser2315Pro)
c.6841T>C (p.Ser2281Pro)
c.6472T>C (p.Ser2158Pro)
dbSNP
5g.112842915T>GCA16037275APCc.7375T>G (p.Ser2459Ala)
c.*7327T>G (n.*7327T>G)
c.7267T>G (p.Ser2423Ala)
c.7321T>G (p.Ser2441Ala)
c.231-13734T>G
c.7351T>G (p.Ser2451Ala)
c.7246T>G (p.Ser2416Ala)
c.7237T>G (p.Ser2413Ala)
c.7198T>G (p.Ser2400Ala)
c.7144T>G (p.Ser2382Ala)
c.7048T>G (p.Ser2350Ala)
c.7018T>G (p.Ser2340Ala)
c.6943T>G (p.Ser2315Ala)
c.6841T>G (p.Ser2281Ala)
c.6472T>G (p.Ser2158Ala)
dbSNP
5g.112842915T=CA1573469378APCc.7375T= (p.Ser2459=)
c.*7327T= (n.*7327T=)
c.7267T= (p.Ser2423=)
c.7321T= (p.Ser2441=)
c.231-13734T=
c.7351T= (p.Ser2451=)
c.7246T= (p.Ser2416=)
c.7237T= (p.Ser2413=)
c.7198T= (p.Ser2400=)
c.7144T= (p.Ser2382=)
c.7048T= (p.Ser2350=)
c.7018T= (p.Ser2340=)
c.6943T= (p.Ser2315=)
c.6841T= (p.Ser2281=)
c.6472T= (p.Ser2158=)
5g.112842916C>ACA16037276APCc.7376C>A (p.Ser2459Ter)
c.*7328C>A (n.*7328C>A)
c.7268C>A (p.Ser2423Ter)
c.7322C>A (p.Ser2441Ter)
c.231-13733C>A
c.7352C>A (p.Ser2451Ter)
c.7247C>A (p.Ser2416Ter)
c.7238C>A (p.Ser2413Ter)
c.7199C>A (p.Ser2400Ter)
c.7145C>A (p.Ser2382Ter)
c.7049C>A (p.Ser2350Ter)
c.7019C>A (p.Ser2340Ter)
c.6944C>A (p.Ser2315Ter)
c.6842C>A (p.Ser2281Ter)
c.6473C>A (p.Ser2158Ter)
dbSNP
5g.112842916C=CA1573469381APCc.7376C= (p.Ser2459=)
c.*7328C= (n.*7328C=)
c.7268C= (p.Ser2423=)
c.7322C= (p.Ser2441=)
c.231-13733C=
c.7352C= (p.Ser2451=)
c.7247C= (p.Ser2416=)
c.7238C= (p.Ser2413=)
c.7199C= (p.Ser2400=)
c.7145C= (p.Ser2382=)
c.7049C= (p.Ser2350=)
c.7019C= (p.Ser2340=)
c.6944C= (p.Ser2315=)
c.6842C= (p.Ser2281=)
c.6473C= (p.Ser2158=)
5g.112842916C>GCA16037277APCc.7376C>G (p.Ser2459Ter)
c.*7328C>G (n.*7328C>G)
c.7268C>G (p.Ser2423Ter)
c.7322C>G (p.Ser2441Ter)
c.231-13733C>G
c.7352C>G (p.Ser2451Ter)
c.7247C>G (p.Ser2416Ter)
c.7238C>G (p.Ser2413Ter)
c.7199C>G (p.Ser2400Ter)
c.7145C>G (p.Ser2382Ter)
c.7049C>G (p.Ser2350Ter)
c.7019C>G (p.Ser2340Ter)
c.6944C>G (p.Ser2315Ter)
c.6842C>G (p.Ser2281Ter)
c.6473C>G (p.Ser2158Ter)
dbSNP
5g.112842916C>TCA16037278APCc.7376C>T (p.Ser2459Leu)
c.*7328C>T (n.*7328C>T)
c.7268C>T (p.Ser2423Leu)
c.7322C>T (p.Ser2441Leu)
c.231-13733C>T
c.7352C>T (p.Ser2451Leu)
c.7247C>T (p.Ser2416Leu)
c.7238C>T (p.Ser2413Leu)
c.7199C>T (p.Ser2400Leu)
c.7145C>T (p.Ser2382Leu)
c.7049C>T (p.Ser2350Leu)
c.7019C>T (p.Ser2340Leu)
c.6944C>T (p.Ser2315Leu)
c.6842C>T (p.Ser2281Leu)
c.6473C>T (p.Ser2158Leu)
ClinVar dbSNP
5g.112842917A>CCA446210261APCc.7377A>C (p.Ser2459=)
c.*7329A>C (n.*7329A>C)
c.7269A>C (p.Ser2423=)
c.7323A>C (p.Ser2441=)
c.231-13732A>C
c.7353A>C (p.Ser2451=)
c.7248A>C (p.Ser2416=)
c.7239A>C (p.Ser2413=)
c.7200A>C (p.Ser2400=)
c.7146A>C (p.Ser2382=)
c.7050A>C (p.Ser2350=)
c.7020A>C (p.Ser2340=)
c.6945A>C (p.Ser2315=)
c.6843A>C (p.Ser2281=)
c.6474A>C (p.Ser2158=)
dbSNP
5g.112842917A>GCA446210263APCc.7377A>G (p.Ser2459=)
c.*7329A>G (n.*7329A>G)
c.7269A>G (p.Ser2423=)
c.7323A>G (p.Ser2441=)
c.231-13732A>G
c.7353A>G (p.Ser2451=)
c.7248A>G (p.Ser2416=)
c.7239A>G (p.Ser2413=)
c.7200A>G (p.Ser2400=)
c.7146A>G (p.Ser2382=)
c.7050A>G (p.Ser2350=)
c.7020A>G (p.Ser2340=)
c.6945A>G (p.Ser2315=)
c.6843A>G (p.Ser2281=)
c.6474A>G (p.Ser2158=)
ClinVar
5g.112842917A>TCA446210262APCc.7377A>T (p.Ser2459=)
c.*7329A>T (n.*7329A>T)
c.7269A>T (p.Ser2423=)
c.7323A>T (p.Ser2441=)
c.231-13732A>T
c.7353A>T (p.Ser2451=)
c.7248A>T (p.Ser2416=)
c.7239A>T (p.Ser2413=)
c.7200A>T (p.Ser2400=)
c.7146A>T (p.Ser2382=)
c.7050A>T (p.Ser2350=)
c.7020A>T (p.Ser2340=)
c.6945A>T (p.Ser2315=)
c.6843A>T (p.Ser2281=)
c.6474A>T (p.Ser2158=)
dbSNP
5g.112842918A=CA1573469392APCc.7378A= (p.Thr2460=)
c.*7330A= (n.*7330A=)
c.7270A= (p.Thr2424=)
c.7324A= (p.Thr2442=)
c.231-13731A=
c.7354A= (p.Thr2452=)
c.7249A= (p.Thr2417=)
c.7240A= (p.Thr2414=)
c.7201A= (p.Thr2401=)
c.7147A= (p.Thr2383=)
c.7051A= (p.Thr2351=)
c.7021A= (p.Thr2341=)
c.6946A= (p.Thr2316=)
c.6844A= (p.Thr2282=)
c.6475A= (p.Thr2159=)
5g.112842918A>CCA16037279APCc.7378A>C (p.Thr2460Pro)
c.*7330A>C (n.*7330A>C)
c.7270A>C (p.Thr2424Pro)
c.7324A>C (p.Thr2442Pro)
c.231-13731A>C
c.7354A>C (p.Thr2452Pro)
c.7249A>C (p.Thr2417Pro)
c.7240A>C (p.Thr2414Pro)
c.7201A>C (p.Thr2401Pro)
c.7147A>C (p.Thr2383Pro)
c.7051A>C (p.Thr2351Pro)
c.7021A>C (p.Thr2341Pro)
c.6946A>C (p.Thr2316Pro)
c.6844A>C (p.Thr2282Pro)
c.6475A>C (p.Thr2159Pro)
dbSNP
5g.112842918A>GCA336578APCc.7378A>G (p.Thr2460Ala)
c.*7330A>G (n.*7330A>G)
c.7270A>G (p.Thr2424Ala)
c.7324A>G (p.Thr2442Ala)
c.231-13731A>G
c.7354A>G (p.Thr2452Ala)
c.7249A>G (p.Thr2417Ala)
c.7240A>G (p.Thr2414Ala)
c.7201A>G (p.Thr2401Ala)
c.7147A>G (p.Thr2383Ala)
c.7051A>G (p.Thr2351Ala)
c.7021A>G (p.Thr2341Ala)
c.6946A>G (p.Thr2316Ala)
c.6844A>G (p.Thr2282Ala)
c.6475A>G (p.Thr2159Ala)
ClinVar dbSNP
5g.112842918A>TCA16037280APCc.7378A>T (p.Thr2460Ser)
c.*7330A>T (n.*7330A>T)
c.7270A>T (p.Thr2424Ser)
c.7324A>T (p.Thr2442Ser)
c.231-13731A>T
c.7354A>T (p.Thr2452Ser)
c.7249A>T (p.Thr2417Ser)
c.7240A>T (p.Thr2414Ser)
c.7201A>T (p.Thr2401Ser)
c.7147A>T (p.Thr2383Ser)
c.7051A>T (p.Thr2351Ser)
c.7021A>T (p.Thr2341Ser)
c.6946A>T (p.Thr2316Ser)
c.6844A>T (p.Thr2282Ser)
c.6475A>T (p.Thr2159Ser)
dbSNP
5g.112842919C>ACA16037281APCc.7379C>A (p.Thr2460Asn)
c.*7331C>A (n.*7331C>A)
c.7271C>A (p.Thr2424Asn)
c.7325C>A (p.Thr2442Asn)
c.231-13730C>A
c.7355C>A (p.Thr2452Asn)
c.7250C>A (p.Thr2417Asn)
c.7241C>A (p.Thr2414Asn)
c.7202C>A (p.Thr2401Asn)
c.7148C>A (p.Thr2383Asn)
c.7052C>A (p.Thr2351Asn)
c.7022C>A (p.Thr2341Asn)
c.6947C>A (p.Thr2316Asn)
c.6845C>A (p.Thr2282Asn)
c.6476C>A (p.Thr2159Asn)
dbSNP
5g.112842919C>GCA16037282APCc.7379C>G (p.Thr2460Ser)
c.*7331C>G (n.*7331C>G)
c.7271C>G (p.Thr2424Ser)
c.7325C>G (p.Thr2442Ser)
c.231-13730C>G
c.7355C>G (p.Thr2452Ser)
c.7250C>G (p.Thr2417Ser)
c.7241C>G (p.Thr2414Ser)
c.7202C>G (p.Thr2401Ser)
c.7148C>G (p.Thr2383Ser)
c.7052C>G (p.Thr2351Ser)
c.7022C>G (p.Thr2341Ser)
c.6947C>G (p.Thr2316Ser)
c.6845C>G (p.Thr2282Ser)
c.6476C>G (p.Thr2159Ser)
5g.112842919C>TCA16037283APCc.7379C>T (p.Thr2460Ile)
c.*7331C>T (n.*7331C>T)
c.7271C>T (p.Thr2424Ile)
c.7325C>T (p.Thr2442Ile)
c.231-13730C>T
c.7355C>T (p.Thr2452Ile)
c.7250C>T (p.Thr2417Ile)
c.7241C>T (p.Thr2414Ile)
c.7202C>T (p.Thr2401Ile)
c.7148C>T (p.Thr2383Ile)
c.7052C>T (p.Thr2351Ile)
c.7022C>T (p.Thr2341Ile)
c.6947C>T (p.Thr2316Ile)
c.6845C>T (p.Thr2282Ile)
c.6476C>T (p.Thr2159Ile)
dbSNP

Number of alleles fetched