Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154896071A>CCA2579744396F8c.6429+6T>G (n.6429+6T>G)
c.6324+6T>G (n.6324+6T>G)
Xg.154896071A>TCA2824314675F8c.6429+6T>A (n.6429+6T>A)
c.6324+6T>A (n.6324+6T>A)
Xg.154896072delCA2695237815F8c.6429+5del (n.6429+5del)
c.6324+5del (n.6324+5del)
Xg.154896072C>ACA2695237814F8c.6429+5G>T (n.6429+5G>T)
c.6324+5G>T (n.6324+5G>T)
Xg.154896072C=CA2466825991F8c.6429+5G= (n.6429+5G=)
c.6324+5G= (n.6324+5G=)
Xg.154896072C>GCA2466825993F8c.6429+5G>C (n.6429+5G>C)
c.6324+5G>C (n.6324+5G>C)
 dbSNP
Xg.154896072C>TCA2466825992F8c.6429+5G>A (n.6429+5G>A)
c.6324+5G>A (n.6324+5G>A)
 ClinVar dbSNP
Xg.154896073A=CA2466825994F8c.6429+4T= (n.6429+4T=)
c.6324+4T= (n.6324+4T=)
Xg.154896073A>CCA2579744397F8c.6429+4T>G (n.6429+4T>G)
c.6324+4T>G (n.6324+4T>G)
Xg.154896073A>GCA645251427F8c.6429+4T>C (n.6429+4T>C)
c.6324+4T>C (n.6324+4T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.154896074T>CCA2573050651F8c.6429+3A>G (n.6429+3A>G)
c.6324+3A>G (n.6324+3A>G)
Xg.154896075delCA2695237816F8c.6429+2del (n.6429+2del)
c.6324+2del (n.6324+2del)
Xg.154896075A>CCA414899259F8c.6429+2T>G (n.6429+2T>G)
c.6324+2T>G (n.6324+2T>G)
Xg.154896075A>GCA414899263F8c.6429+2T>C (n.6429+2T>C)
c.6324+2T>C (n.6324+2T>C)
Xg.154896075A>TCA414899265F8c.6429+2T>A (n.6429+2T>A)
c.6324+2T>A (n.6324+2T>A)
 ClinVar
Xg.154896076C>ACA414899273F8c.6429+1G>T (n.6429+1G>T)
c.6324+1G>T (n.6324+1G>T)
Xg.154896076C=CA2466825995F8c.6429+1G= (n.6429+1G=)
c.6324+1G= (n.6324+1G=)
Xg.154896076C>GCA414899271F8c.6429+1G>C (n.6429+1G>C)
c.6324+1G>C (n.6324+1G>C)
 dbSNP
Xg.154896076C>TCA414899268F8c.6429+1G>A (n.6429+1G>A)
c.6324+1G>A (n.6324+1G>A)
 dbSNP
Xg.154896077C>ACA414899276F8c.6429G>T (p.Met2143Ile)
c.6324G>T (p.Met2108Ile)
Xg.154896077C>GCA414899278F8c.6429G>C (p.Met2143Ile)
c.6324G>C (p.Met2108Ile)
Xg.154896077C>TCA414899282F8c.6429G>A (p.Met2143Ile)
c.6324G>A (p.Met2108Ile)
Xg.154896077_154896091delinsAAATCGACA2695237817F8c.6415_6429delinsTCGATTT (p.Thr2139SerfsTer19)
c.6310_6324delinsTCGATTT (p.Thr2104SerfsTer19)
Xg.154896078A=CA2466825996F8c.6428T= (p.Met2143=)
c.6323T= (p.Met2108=)
Xg.154896078A>CCA414899287F8c.6428T>G (p.Met2143Arg)
c.6323T>G (p.Met2108Arg)
Xg.154896078A>GCA10567859F8c.6428T>C (p.Met2143Thr)
c.6323T>C (p.Met2108Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154896078A>TCA414899291F8c.6428T>A (p.Met2143Lys)
c.6323T>A (p.Met2108Lys)
Xg.154896079T>ACA414899295F8c.6427A>T (p.Met2143Leu)
c.6322A>T (p.Met2108Leu)
Xg.154896079T>CCA414899297F8c.6427A>G (p.Met2143Val)
c.6322A>G (p.Met2108Val)
Xg.154896079T>GCA414899300F8c.6427A>C (p.Met2143Leu)
c.6322A>C (p.Met2108Leu)
Xg.154896080T>ACA414899302F8c.6426A>T (p.Leu2142Phe)
c.6321A>T (p.Leu2107Phe)
Xg.154896080T>CCA519352323F8c.6426A>G (p.Leu2142=)
c.6321A>G (p.Leu2107=)
Xg.154896080T>GCA414899303F8c.6426A>C (p.Leu2142Phe)
c.6321A>C (p.Leu2107Phe)
Xg.154896081A>CCA414899310F8c.6425T>G (p.Leu2142Ter)
c.6320T>G (p.Leu2107Ter)
Xg.154896081A>GCA414899309F8c.6425T>C (p.Leu2142Ser)
c.6320T>C (p.Leu2107Ser)
Xg.154896081A>TCA414899306F8c.6425T>A (p.Leu2142Ter)
c.6320T>A (p.Leu2107Ter)
Xg.154896082A>CCA414899315F8c.6424T>G (p.Leu2142Val)
c.6319T>G (p.Leu2107Val)
Xg.154896082A>GCA519352336F8c.6424T>C (p.Leu2142=)
c.6319T>C (p.Leu2107=)
Xg.154896082A>TCA414899317F8c.6424T>A (p.Leu2142Ile)
c.6319T>A (p.Leu2107Ile)
Xg.154896083G>ACA10567860F8c.6423C>T (p.Thr2141=)
c.6318C>T (p.Thr2106=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154896083G>CCA519352343F8c.6423C>G (p.Thr2141=)
c.6318C>G (p.Thr2106=)
Xg.154896083G=CA2466825997F8c.6423C= (p.Thr2141=)
c.6318C= (p.Thr2106=)
Xg.154896083G>TCA519352342F8c.6423C>A (p.Thr2141=)
c.6318C>A (p.Thr2106=)
 dbSNP gnomAD v3 gnomAD v4
Xg.154896084G>ACA414899330F8c.6422C>T (p.Thr2141Ile)
c.6317C>T (p.Thr2106Ile)
Xg.154896084G>CCA414899332F8c.6422C>G (p.Thr2141Ser)
c.6317C>G (p.Thr2106Ser)
Xg.154896084G>TCA414899335F8c.6422C>A (p.Thr2141Asn)
c.6317C>A (p.Thr2106Asn)
Xg.154896085T>ACA414899337F8c.6421A>T (p.Thr2141Ser)
c.6316A>T (p.Thr2106Ser)
Xg.154896085T>CCA414899339F8c.6421A>G (p.Thr2141Ala)
c.6316A>G (p.Thr2106Ala)
 COSMIC COSMIC
Xg.154896085T>GCA414899341F8c.6421A>C (p.Thr2141Pro)
c.6316A>C (p.Thr2106Pro)
Xg.154896086delCA2579744398F8c.6421del (p.Thr2141ProfsTer2)
c.6316del (p.Thr2106ProfsTer2)
Xg.154896086T>ACA519352356F8c.6420A>T (p.Gly2140=)
c.6315A>T (p.Gly2105=)
Xg.154896086T>CCA519352358F8c.6420A>G (p.Gly2140=)
c.6315A>G (p.Gly2105=)
Xg.154896086T>GCA519352360F8c.6420A>C (p.Gly2140=)
c.6315A>C (p.Gly2105=)
Xg.154896087C>ACA414899345F8c.6419G>T (p.Gly2140Val)
c.6314G>T (p.Gly2105Val)
Xg.154896087C=CA2466825998F8c.6419G= (p.Gly2140=)
c.6314G= (p.Gly2105=)
Xg.154896087C>GCA414899346F8c.6419G>C (p.Gly2140Ala)
c.6314G>C (p.Gly2105Ala)
Xg.154896087C>TCA414899350F8c.6419G>A (p.Gly2140Glu)
c.6314G>A (p.Gly2105Glu)
 dbSNP
Xg.154896088C>ACA414899353F8c.6418G>T (p.Gly2140Ter)
c.6313G>T (p.Gly2105Ter)
Xg.154896088C>GCA414899355F8c.6418G>C (p.Gly2140Arg)
c.6313G>C (p.Gly2105Arg)
Xg.154896088C>TCA414899351F8c.6418G>A (p.Gly2140Arg)
c.6313G>A (p.Gly2105Arg)
 COSMIC COSMIC
Xg.154896089A>CCA519352373F8c.6417T>G (p.Thr2139=)
c.6312T>G (p.Thr2104=)
Xg.154896089A>GCA519352377F8c.6417T>C (p.Thr2139=)
c.6312T>C (p.Thr2104=)
Xg.154896089A>TCA519352375F8c.6417T>A (p.Thr2139=)
c.6312T>A (p.Thr2104=)
Xg.154896090G>ACA414899362F8c.6416C>T (p.Thr2139Ile)
c.6311C>T (p.Thr2104Ile)
 gnomAD v4
Xg.154896090G>CCA414899359F8c.6416C>G (p.Thr2139Ser)
c.6311C>G (p.Thr2104Ser)
Xg.154896090G>TCA414899364F8c.6416C>A (p.Thr2139Asn)
c.6311C>A (p.Thr2104Asn)
Xg.154896091T>ACA414899368F8c.6415A>T (p.Thr2139Ser)
c.6310A>T (p.Thr2104Ser)
Xg.154896091T>CCA414899371F8c.6415A>G (p.Thr2139Ala)
c.6310A>G (p.Thr2104Ala)
Xg.154896091T>GCA414899369F8c.6415A>C (p.Thr2139Pro)
c.6310A>C (p.Thr2104Pro)
Xg.154896092G>ACA519352392F8c.6414C>T (p.Ser2138=)
c.6309C>T (p.Ser2103=)
 dbSNP
Xg.154896092G>CCA519352393F8c.6414C>G (p.Ser2138=)
c.6309C>G (p.Ser2103=)
Xg.154896092G>TCA519352395F8c.6414C>A (p.Ser2138=)
c.6309C>A (p.Ser2103=)
Xg.154896092_154896094delinsGGACA2466825999F8c.6412_6414delinsTCC (p.Ser2138=)
c.6307_6309delinsTCC (p.Ser2103=)
Xg.154896093G>ACA414899376F8c.6413C>T (p.Ser2138Phe)
c.6308C>T (p.Ser2103Phe)
Xg.154896093G>CCA414899382F8c.6413C>G (p.Ser2138Cys)
c.6308C>G (p.Ser2103Cys)
Xg.154896093G=CA2466826000F8c.6413C= (p.Ser2138=)
c.6308C= (p.Ser2103=)
Xg.154896093G>TCA255204F8c.6413C>A (p.Ser2138Tyr)
c.6308C>A (p.Ser2103Tyr)
 ClinVar dbSNP gnomAD v4
Xg.154896093_154896094delCA255205F8c.6412_6413del (p.Ser2138HisfsTer22)
c.6307_6308del (p.Ser2103HisfsTer22)
 ClinVar dbSNP
Xg.154896094A>CCA414899391F8c.6412T>G (p.Ser2138Ala)
c.6307T>G (p.Ser2103Ala)
Xg.154896094A>GCA414899394F8c.6412T>C (p.Ser2138Pro)
c.6307T>C (p.Ser2103Pro)
Xg.154896094A>TCA414899396F8c.6412T>A (p.Ser2138Thr)
c.6307T>A (p.Ser2103Thr)
Xg.154896095A>CCA414899400F8c.6411T>G (p.Asn2137Lys)
c.6306T>G (p.Asn2102Lys)
Xg.154896095A>GCA519352410F8c.6411T>C (p.Asn2137=)
c.6306T>C (p.Asn2102=)
Xg.154896095A>TCA414899402F8c.6411T>A (p.Asn2137Lys)
c.6306T>A (p.Asn2102Lys)
Xg.154896096T>ACA414899408F8c.6410A>T (p.Asn2137Ile)
c.6305A>T (p.Asn2102Ile)
Xg.154896096T>CCA414899404F8c.6410A>G (p.Asn2137Ser)
c.6305A>G (p.Asn2102Ser)
Xg.154896096T>GCA414899406F8c.6410A>C (p.Asn2137Thr)
c.6305A>C (p.Asn2102Thr)
Xg.154896098dupCA2695237818F8c.6410dup (p.Asn2137LysfsTer24)
c.6305dup (p.Asn2102LysfsTer24)
Xg.154896098delCA2579744399F8c.6410del (p.Asn2137IlefsTer6)
c.6305del (p.Asn2102IlefsTer6)
Xg.154896097T>ACA414899410F8c.6409A>T (p.Asn2137Tyr)
c.6304A>T (p.Asn2102Tyr)
Xg.154896097T>CCA414899412F8c.6409A>G (p.Asn2137Asp)
c.6304A>G (p.Asn2102Asp)
Xg.154896097T>GCA414899414F8c.6409A>C (p.Asn2137His)
c.6304A>C (p.Asn2102His)
Xg.154896098T>ACA519352428F8c.6408A>T (p.Gly2136=)
c.6303A>T (p.Gly2101=)
 gnomAD v4
Xg.154896098T>CCA519352424F8c.6408A>G (p.Gly2136=)
c.6303A>G (p.Gly2101=)
Xg.154896098T>GCA519352426F8c.6408A>C (p.Gly2136=)
c.6303A>C (p.Gly2101=)
Xg.154896099C>ACA414899417F8c.6407G>T (p.Gly2136Val)
c.6302G>T (p.Gly2101Val)
Xg.154896099C=CA2466826001F8c.6407G= (p.Gly2136=)
c.6302G= (p.Gly2101=)
Xg.154896099C>GCA414899419F8c.6407G>C (p.Gly2136Ala)
c.6302G>C (p.Gly2101Ala)
Xg.154896099C>TCA414899422F8c.6407G>A (p.Gly2136Glu)
c.6302G>A (p.Gly2101Glu)
 COSMIC COSMIC
Xg.154896100C>ACA414899425F8c.6406G>T (p.Gly2136Ter)
c.6301G>T (p.Gly2101Ter)
Xg.154896100C>GCA414899428F8c.6406G>C (p.Gly2136Arg)
c.6301G>C (p.Gly2101Arg)
Xg.154896100C>TCA414899430F8c.6406G>A (p.Gly2136Arg)
c.6301G>A (p.Gly2101Arg)
Xg.154896100_154896108dupCA1139667897F8c.6398_6406dup (p.Arg2135_Gly2136insAlaTyrArg)
c.6293_6301dup (p.Arg2100_Gly2101insAlaTyrArg)
Xg.154896100_154896101insCTCGATAAGCA2695237819F8c.6405_6406insCTTATCGAG (p.Arg2135_Gly2136insLeuIleGlu)
c.6300_6301insCTTATCGAG (p.Arg2100_Gly2101insLeuIleGlu)
Xg.154896101T>ACA519352440F8c.6405A>T (p.Arg2135=)
c.6300A>T (p.Arg2100=)
Xg.154896101T>CCA519352442F8c.6405A>G (p.Arg2135=)
c.6300A>G (p.Arg2100=)
Xg.154896101T>GCA519352444F8c.6405A>C (p.Arg2135=)
c.6300A>C (p.Arg2100=)
Xg.154896102C>ACA414899434F8c.6404G>T (p.Arg2135Leu)
c.6299G>T (p.Arg2100Leu)
Xg.154896102C=CA2466826002F8c.6404G= (p.Arg2135=)
c.6299G= (p.Arg2100=)
Xg.154896102C>GCA255029F8c.6404G>C (p.Arg2135Pro)
c.6299G>C (p.Arg2100Pro)
 ClinVar dbSNP
Xg.154896102C>TCA10567861F8c.6404G>A (p.Arg2135Gln)
c.6299G>A (p.Arg2100Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.154896103G>ACA255011F8c.6403C>T (p.Arg2135Ter)
c.6298C>T (p.Arg2100Ter)
 ClinVar dbSNP COSMIC COSMIC
Xg.154896103G>CCA414899439F8c.6403C>G (p.Arg2135Gly)
c.6298C>G (p.Arg2100Gly)
 dbSNP
Xg.154896103G=CA2466826003F8c.6403C= (p.Arg2135=)
c.6298C= (p.Arg2100=)
Xg.154896103G>TCA519352452F8c.6403C>A (p.Arg2135=)
c.6298C>A (p.Arg2100=)
 dbSNP gnomAD v4
Xg.154896104A>CCA414899442F8c.6402T>G (p.Tyr2134Ter)
c.6297T>G (p.Tyr2099Ter)
Xg.154896104A>GCA519352458F8c.6402T>C (p.Tyr2134=)
c.6297T>C (p.Tyr2099=)
Xg.154896104A>TCA414899445F8c.6402T>A (p.Tyr2134Ter)
c.6297T>A (p.Tyr2099Ter)
Xg.154896105T>ACA414899448F8c.6401A>T (p.Tyr2134Phe)
c.6296A>T (p.Tyr2099Phe)
Xg.154896105T>CCA414899449F8c.6401A>G (p.Tyr2134Cys)
c.6296A>G (p.Tyr2099Cys)
Xg.154896105T>GCA414899452F8c.6401A>C (p.Tyr2134Ser)
c.6296A>C (p.Tyr2099Ser)
Xg.154896106A>CCA414899455F8c.6400T>G (p.Tyr2134Asp)
c.6295T>G (p.Tyr2099Asp)
Xg.154896106A>GCA414899457F8c.6400T>C (p.Tyr2134His)
c.6295T>C (p.Tyr2099His)
 ClinVar
Xg.154896106A>TCA414899460F8c.6400T>A (p.Tyr2134Asn)
c.6295T>A (p.Tyr2099Asn)
Xg.154896107A=CA2466826004F8c.6399T= (p.Thr2133=)
c.6294T= (p.Thr2098=)
Xg.154896107A>CCA519352472F8c.6399T>G (p.Thr2133=)
c.6294T>G (p.Thr2098=)
Xg.154896107A>GCA10567862F8c.6399T>C (p.Thr2133=)
c.6294T>C (p.Thr2098=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154896107A>TCA519352476F8c.6399T>A (p.Thr2133=)
c.6294T>A (p.Thr2098=)
Xg.154896108G>ACA414899470F8c.6398C>T (p.Thr2133Ile)
c.6293C>T (p.Thr2098Ile)
Xg.154896108G>CCA414899465F8c.6398C>G (p.Thr2133Ser)
c.6293C>G (p.Thr2098Ser)
Xg.154896108G>TCA414899468F8c.6398C>A (p.Thr2133Asn)
c.6293C>A (p.Thr2098Asn)
 COSMIC COSMIC
Xg.154896109T>ACA414899472F8c.6397A>T (p.Thr2133Ser)
c.6292A>T (p.Thr2098Ser)
Xg.154896109T>CCA414899474F8c.6397A>G (p.Thr2133Ala)
c.6292A>G (p.Thr2098Ala)
Xg.154896109T>GCA414899477F8c.6397A>C (p.Thr2133Pro)
c.6292A>C (p.Thr2098Pro)
Xg.154896111_154896122delCA2695237820F8c.6386_6397del (p.Lys2129_Gln2132del)
c.6281_6292del (p.Lys2094_Gln2097del)
Xg.154896110C>ACA414899487F8c.6396G>T (p.Gln2132His)
c.6291G>T (p.Gln2097His)
Xg.154896110C>GCA414899490F8c.6396G>C (p.Gln2132His)
c.6291G>C (p.Gln2097His)
Xg.154896110C>TCA519352490F8c.6396G>A (p.Gln2132=)
c.6291G>A (p.Gln2097=)
Xg.154896111T>ACA414899494F8c.6395A>T (p.Gln2132Leu)
c.6290A>T (p.Gln2097Leu)
Xg.154896111T>CCA414899499F8c.6395A>G (p.Gln2132Arg)
c.6290A>G (p.Gln2097Arg)
Xg.154896111T>GCA414899501F8c.6395A>C (p.Gln2132Pro)
c.6290A>C (p.Gln2097Pro)
Xg.154896112G>ACA414899504F8c.6394C>T (p.Gln2132Ter)
c.6289C>T (p.Gln2097Ter)
 COSMIC COSMIC
Xg.154896112G>CCA414899505F8c.6394C>G (p.Gln2132Glu)
c.6289C>G (p.Gln2097Glu)
Xg.154896112G>TCA414899506F8c.6394C>A (p.Gln2132Lys)
c.6289C>A (p.Gln2097Lys)
Xg.154896113C>ACA414899508F8c.6393G>T (p.Trp2131Cys)
c.6288G>T (p.Trp2096Cys)
Xg.154896113C=CA2466826005F8c.6393G= (p.Trp2131=)
c.6288G= (p.Trp2096=)
Xg.154896113C>GCA414899509F8c.6393G>C (p.Trp2131Cys)
c.6288G>C (p.Trp2096Cys)
Xg.154896113C>TCA414899507F8c.6393G>A (p.Trp2131Ter)
c.6288G>A (p.Trp2096Ter)
 dbSNP
Xg.154896114C>ACA414899515F8c.6392G>T (p.Trp2131Leu)
c.6287G>T (p.Trp2096Leu)
Xg.154896114C>GCA414899512F8c.6392G>C (p.Trp2131Ser)
c.6287G>C (p.Trp2096Ser)
Xg.154896114C>TCA414899514F8c.6392G>A (p.Trp2131Ter)
c.6287G>A (p.Trp2096Ter)
Xg.154896115A>CCA414899516F8c.6391T>G (p.Trp2131Gly)
c.6286T>G (p.Trp2096Gly)
Xg.154896115A>GCA414899517F8c.6391T>C (p.Trp2131Arg)
c.6286T>C (p.Trp2096Arg)
Xg.154896115A>TCA414899519F8c.6391T>A (p.Trp2131Arg)
c.6286T>A (p.Trp2096Arg)
Xg.154896116C>ACA414899522F8c.6390G>T (p.Lys2130Asn)
c.6285G>T (p.Lys2095Asn)
Xg.154896116C>GCA414899525F8c.6390G>C (p.Lys2130Asn)
c.6285G>C (p.Lys2095Asn)
Xg.154896116C>TCA519352518F8c.6390G>A (p.Lys2130=)
c.6285G>A (p.Lys2095=)
Xg.154896117T>ACA414899529F8c.6389A>T (p.Lys2130Met)
c.6284A>T (p.Lys2095Met)
Xg.154896117T>CCA414899531F8c.6389A>G (p.Lys2130Arg)
c.6284A>G (p.Lys2095Arg)
Xg.154896117T>GCA414899532F8c.6389A>C (p.Lys2130Thr)
c.6284A>C (p.Lys2095Thr)
Xg.154896118T>ACA414899536F8c.6388A>T (p.Lys2130Ter)
c.6283A>T (p.Lys2095Ter)
Xg.154896118T>CCA414899534F8c.6388A>G (p.Lys2130Glu)
c.6283A>G (p.Lys2095Glu)
Xg.154896118T>GCA414899533F8c.6388A>C (p.Lys2130Gln)
c.6283A>C (p.Lys2095Gln)
Xg.154896119C>ACA414899540F8c.6387G>T (p.Lys2129Asn)
c.6282G>T (p.Lys2094Asn)
 COSMIC COSMIC
Xg.154896119C>GCA414899543F8c.6387G>C (p.Lys2129Asn)
c.6282G>C (p.Lys2094Asn)
Xg.154896119C>TCA519352532F8c.6387G>A (p.Lys2129=)
c.6282G>A (p.Lys2094=)
Xg.154896120T>ACA414899546F8c.6386A>T (p.Lys2129Met)
c.6281A>T (p.Lys2094Met)
Xg.154896120T>CCA414899550F8c.6386A>G (p.Lys2129Arg)
c.6281A>G (p.Lys2094Arg)
Xg.154896120T>GCA414899551F8c.6386A>C (p.Lys2129Thr)
c.6281A>C (p.Lys2094Thr)
Xg.154896121T>ACA414899553F8c.6385A>T (p.Lys2129Ter)
c.6280A>T (p.Lys2094Ter)
Xg.154896121T>CCA414899554F8c.6385A>G (p.Lys2129Glu)
c.6280A>G (p.Lys2094Glu)
Xg.154896121T>GCA414899555F8c.6385A>C (p.Lys2129Gln)
c.6280A>C (p.Lys2094Gln)
Xg.154896122C>ACA519352544F8c.6384G>T (p.Gly2128=)
c.6279G>T (p.Gly2093=)
Xg.154896122C>GCA519352546F8c.6384G>C (p.Gly2128=)
c.6279G>C (p.Gly2093=)
Xg.154896122C>TCA519352548F8c.6384G>A (p.Gly2128=)
c.6279G>A (p.Gly2093=)
Xg.154896124delCA2695237821F8c.6384del (p.Lys2129ArgfsTer14)
c.6279del (p.Lys2094ArgfsTer14)
Xg.154896123C>ACA414899556F8c.6383G>T (p.Gly2128Val)
c.6278G>T (p.Gly2093Val)
Xg.154896123C=CA2466826006F8c.6383G= (p.Gly2128=)
c.6278G= (p.Gly2093=)
Xg.154896123C>GCA414899558F8c.6383G>C (p.Gly2128Ala)
c.6278G>C (p.Gly2093Ala)
 COSMIC COSMIC
Xg.154896123C>TCA414899564F8c.6383G>A (p.Gly2128Glu)
c.6278G>A (p.Gly2093Glu)
 dbSNP gnomAD v4
Xg.154896124C>ACA414899568F8c.6382G>T (p.Gly2128Trp)
c.6277G>T (p.Gly2093Trp)
 COSMIC COSMIC
Xg.154896124C>GCA414899570F8c.6382G>C (p.Gly2128Arg)
c.6277G>C (p.Gly2093Arg)
 gnomAD v4
Xg.154896124C>TCA414899566F8c.6382G>A (p.Gly2128Arg)
c.6277G>A (p.Gly2093Arg)
Xg.154896125A=CA2466826007F8c.6381T= (p.Asp2127=)
c.6276T= (p.Asp2092=)
Xg.154896125A>CCA414899573F8c.6381T>G (p.Asp2127Glu)
c.6276T>G (p.Asp2092Glu)
Xg.154896125A>GCA10567863F8c.6381T>C (p.Asp2127=)
c.6276T>C (p.Asp2092=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896125A>TCA414899578F8c.6381T>A (p.Asp2127Glu)
c.6276T>A (p.Asp2092Glu)
Xg.154896126T>ACA414899582F8c.6380A>T (p.Asp2127Val)
c.6275A>T (p.Asp2092Val)
Xg.154896126T>CCA414899587F8c.6380A>G (p.Asp2127Gly)
c.6275A>G (p.Asp2092Gly)
 dbSNP
Xg.154896126T>GCA414899589F8c.6380A>C (p.Asp2127Ala)
c.6275A>C (p.Asp2092Ala)
Xg.154896126T=CA2466826008F8c.6380A= (p.Asp2127=)
c.6275A= (p.Asp2092=)
Xg.154896127C>ACA414899591F8c.6379G>T (p.Asp2127Tyr)
c.6274G>T (p.Asp2092Tyr)
Xg.154896127C=CA2466826009F8c.6379G= (p.Asp2127=)
c.6274G= (p.Asp2092=)
Xg.154896127C>GCA414899594F8c.6379G>C (p.Asp2127His)
c.6274G>C (p.Asp2092His)
Xg.154896127C>TCA414899596F8c.6379G>A (p.Asp2127Asn)
c.6274G>A (p.Asp2092Asn)
 dbSNP gnomAD v4
Xg.154896129_154896138delCA2695237822F8c.6370_6379del (p.Tyr2124MetfsTer16)
c.6265_6274del (p.Tyr2089MetfsTer16)
Xg.154896128A>CCA519352574F8c.6378T>G (p.Leu2126=)
c.6273T>G (p.Leu2091=)
Xg.154896128A>GCA519352572F8c.6378T>C (p.Leu2126=)
c.6273T>C (p.Leu2091=)
Xg.154896128A>TCA519352570F8c.6378T>A (p.Leu2126=)
c.6273T>A (p.Leu2091=)
Xg.154896129A=CA2466826010F8c.6377T= (p.Leu2126=)
c.6272T= (p.Leu2091=)
Xg.154896129A>CCA414899601F8c.6377T>G (p.Leu2126Arg)
c.6272T>G (p.Leu2091Arg)
Xg.154896129A>GCA414899602F8c.6377T>C (p.Leu2126Pro)
c.6272T>C (p.Leu2091Pro)
 dbSNP gnomAD v4
Xg.154896129A>TCA414899605F8c.6377T>A (p.Leu2126His)
c.6272T>A (p.Leu2091His)
Xg.154896130_154896134delCA2695237823F8c.6373_6377del (p.Ser2125Ter)
c.6268_6272del (p.Ser2090Ter)
Xg.154896130G>ACA414899618F8c.6376C>T (p.Leu2126Phe)
c.6271C>T (p.Leu2091Phe)
Xg.154896130G>CCA414899609F8c.6376C>G (p.Leu2126Val)
c.6271C>G (p.Leu2091Val)
Xg.154896130G>TCA414899616F8c.6376C>A (p.Leu2126Ile)
c.6271C>A (p.Leu2091Ile)
Xg.154896131A=CA2466826011F8c.6375T= (p.Ser2125=)
c.6270T= (p.Ser2090=)
Xg.154896131A>CCA414899620F8c.6375T>G (p.Ser2125Arg)
c.6270T>G (p.Ser2090Arg)
Xg.154896131A>GCA519352587F8c.6375T>C (p.Ser2125=)
c.6270T>C (p.Ser2090=)
 dbSNP gnomAD v2 gnomAD v4
Xg.154896131A>TCA414899622F8c.6375T>A (p.Ser2125Arg)
c.6270T>A (p.Ser2090Arg)
 ClinVar
Xg.154896132C>ACA414899626F8c.6374G>T (p.Ser2125Ile)
c.6269G>T (p.Ser2090Ile)
Xg.154896132C=CA2466826012F8c.6374G= (p.Ser2125=)
c.6269G= (p.Ser2090=)
Xg.154896132C>GCA10567864F8c.6374G>C (p.Ser2125Thr)
c.6269G>C (p.Ser2090Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896132C>TCA414899635F8c.6374G>A (p.Ser2125Asn)
c.6269G>A (p.Ser2090Asn)
Xg.154896133T>ACA414899637F8c.6373A>T (p.Ser2125Cys)
c.6268A>T (p.Ser2090Cys)
Xg.154896133T>CCA414899641F8c.6373A>G (p.Ser2125Gly)
c.6268A>G (p.Ser2090Gly)
Xg.154896133T>GCA414899642F8c.6373A>C (p.Ser2125Arg)
c.6268A>C (p.Ser2090Arg)
Xg.154896134A>CCA414899644F8c.6372T>G (p.Tyr2124Ter)
c.6267T>G (p.Tyr2089Ter)
Xg.154896134A>GCA519352600F8c.6372T>C (p.Tyr2124=)
c.6267T>C (p.Tyr2089=)
 gnomAD v4
Xg.154896134A>TCA414899645F8c.6372T>A (p.Tyr2124Ter)
c.6267T>A (p.Tyr2089Ter)
Xg.154896135T>ACA414899647F8c.6371A>T (p.Tyr2124Phe)
c.6266A>T (p.Tyr2089Phe)
Xg.154896135T>CCA255203F8c.6371A>G (p.Tyr2124Cys)
c.6266A>G (p.Tyr2089Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154896135T>GCA414899653F8c.6371A>C (p.Tyr2124Ser)
c.6266A>C (p.Tyr2089Ser)
Xg.154896135T=CA2466826013F8c.6371A= (p.Tyr2124=)
c.6266A= (p.Tyr2089=)
Xg.154896136A=CA2466826014F8c.6370T= (p.Tyr2124=)
c.6265T= (p.Tyr2089=)
Xg.154896136A>CCA414899673F8c.6370T>G (p.Tyr2124Asp)
c.6265T>G (p.Tyr2089Asp)
Xg.154896136A>GCA414899674F8c.6370T>C (p.Tyr2124His)
c.6265T>C (p.Tyr2089His)
Xg.154896136A>TCA414899656F8c.6370T>A (p.Tyr2124Asn)
c.6265T>A (p.Tyr2089Asn)
 dbSNP
Xg.154896137C>ACA414899679F8c.6369G>T (p.Met2123Ile)
c.6264G>T (p.Met2088Ile)
Xg.154896137C=CA2466826015F8c.6369G= (p.Met2123=)
c.6264G= (p.Met2088=)
Xg.154896137C>GCA414899676F8c.6369G>C (p.Met2123Ile)
c.6264G>C (p.Met2088Ile)
Xg.154896137C>TCA10567865F8c.6369G>A (p.Met2123Ile)
c.6264G>A (p.Met2088Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896138A=CA2466826016F8c.6368T= (p.Met2123=)
c.6263T= (p.Met2088=)
Xg.154896138A>CCA414899683F8c.6368T>G (p.Met2123Arg)
c.6263T>G (p.Met2088Arg)
Xg.154896138A>GCA10567866F8c.6368T>C (p.Met2123Thr)
c.6263T>C (p.Met2088Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154896138A>TCA414899684F8c.6368T>A (p.Met2123Lys)
c.6263T>A (p.Met2088Lys)
Xg.154896139T>ACA414899687F8c.6367A>T (p.Met2123Leu)
c.6262A>T (p.Met2088Leu)
Xg.154896139T>CCA414899689F8c.6367A>G (p.Met2123Val)
c.6262A>G (p.Met2088Val)
 gnomAD v4
Xg.154896139T>GCA414899692F8c.6367A>C (p.Met2123Leu)
c.6262A>C (p.Met2088Leu)
Xg.154896140G>ACA519352626F8c.6366C>T (p.Ile2122=)
c.6261C>T (p.Ile2087=)
Xg.154896140G>CCA414899701F8c.6366C>G (p.Ile2122Met)
c.6261C>G (p.Ile2087Met)
Xg.154896140G>TCA519352629F8c.6366C>A (p.Ile2122=)
c.6261C>A (p.Ile2087=)
Xg.154896141A>CCA414899702F8c.6365T>G (p.Ile2122Ser)
c.6260T>G (p.Ile2087Ser)
Xg.154896141A>GCA414899703F8c.6365T>C (p.Ile2122Thr)
c.6260T>C (p.Ile2087Thr)
Xg.154896141A>TCA414899704F8c.6365T>A (p.Ile2122Asn)
c.6260T>A (p.Ile2087Asn)
Xg.154896142T>ACA414899707F8c.6364A>T (p.Ile2122Phe)
c.6259A>T (p.Ile2087Phe)
Xg.154896142T>CCA414899708F8c.6364A>G (p.Ile2122Val)
c.6259A>G (p.Ile2087Val)
Xg.154896142T>GCA414899711F8c.6364A>C (p.Ile2122Leu)
c.6259A>C (p.Ile2087Leu)
Xg.154896143G>ACA519352641F8c.6363C>T (p.Ile2121=)
c.6258C>T (p.Ile2086=)
Xg.154896143G>CCA414899715F8c.6363C>G (p.Ile2121Met)
c.6258C>G (p.Ile2086Met)
Xg.154896143G>TCA519352644F8c.6363C>A (p.Ile2121=)
c.6258C>A (p.Ile2086=)
Xg.154896144A=CA2466826018F8c.6362T= (p.Ile2121=)
c.6257T= (p.Ile2086=)
Xg.154896144A>CCA414899720F8c.6362T>G (p.Ile2121Ser)
c.6257T>G (p.Ile2086Ser)
Xg.154896144A>GCA414899721F8c.6362T>C (p.Ile2121Thr)
c.6257T>C (p.Ile2086Thr)
 dbSNP gnomAD v4
Xg.154896144A>TCA414899722F8c.6362T>A (p.Ile2121Asn)
c.6257T>A (p.Ile2086Asn)
 ClinVar
Xg.154896144_154896149delinsATAAACCA2466826017F8c.6357_6362delinsGTTTAT (p.Gln2119=)
c.6252_6257delinsGTTTAT (p.Gln2084=)
Xg.154896145T>ACA414899725F8c.6361A>T (p.Ile2121Phe)
c.6256A>T (p.Ile2086Phe)
Xg.154896145T>CCA414899729F8c.6361A>G (p.Ile2121Val)
c.6256A>G (p.Ile2086Val)
Xg.154896145T>GCA414899733F8c.6361A>C (p.Ile2121Leu)
c.6256A>C (p.Ile2086Leu)
Xg.154896146_154896150delCA873337992F8c.6357_6361del (p.Gln2119HisfsTer5)
c.6252_6256del (p.Gln2084HisfsTer5)
 dbSNP
Xg.154896146A=CA2466826019F8c.6360T= (p.Phe2120=)
c.6255T= (p.Phe2085=)
Xg.154896146A>CCA255202F8c.6360T>G (p.Phe2120Leu)
c.6255T>G (p.Phe2085Leu)
 ClinVar dbSNP
Xg.154896146A>GCA519352656F8c.6360T>C (p.Phe2120=)
c.6255T>C (p.Phe2085=)
Xg.154896146A>TCA414899736F8c.6360T>A (p.Phe2120Leu)
c.6255T>A (p.Phe2085Leu)
Xg.154896147A>CCA414899743F8c.6359T>G (p.Phe2120Cys)
c.6254T>G (p.Phe2085Cys)
Xg.154896147A>GCA414899745F8c.6359T>C (p.Phe2120Ser)
c.6254T>C (p.Phe2085Ser)
Xg.154896147A>TCA414899746F8c.6359T>A (p.Phe2120Tyr)
c.6254T>A (p.Phe2085Tyr)
Xg.154896148A>CCA414899759F8c.6358T>G (p.Phe2120Val)
c.6253T>G (p.Phe2085Val)
Xg.154896148A>GCA414899758F8c.6358T>C (p.Phe2120Leu)
c.6253T>C (p.Phe2085Leu)
 COSMIC COSMIC
Xg.154896148A>TCA414899752F8c.6358T>A (p.Phe2120Ile)
c.6253T>A (p.Phe2085Ile)
Xg.154896149C>ACA414899762F8c.6357G>T (p.Gln2119His)
c.6252G>T (p.Gln2084His)
Xg.154896149C=CA2466826020F8c.6357G= (p.Gln2119=)
c.6252G= (p.Gln2084=)
Xg.154896149C>GCA414899763F8c.6357G>C (p.Gln2119His)
c.6252G>C (p.Gln2084His)
Xg.154896149C>TCA519352672F8c.6357G>A (p.Gln2119=)
c.6252G>A (p.Gln2084=)
 dbSNP gnomAD v3 gnomAD v4
Xg.154896150T>ACA414899764F8c.6356A>T (p.Gln2119Leu)
c.6251A>T (p.Gln2084Leu)
Xg.154896150T>CCA414899765F8c.6356A>G (p.Gln2119Arg)
c.6251A>G (p.Gln2084Arg)
Xg.154896150T>GCA414899766F8c.6356A>C (p.Gln2119Pro)
c.6251A>C (p.Gln2084Pro)
Xg.154896150_154896151delCA2695237824F8c.6355_6356del (p.Gln2119ValfsTer6)
c.6250_6251del (p.Gln2084ValfsTer6)
Xg.154896151delCA2695237825F8c.6355del (p.Gln2119SerfsTer24)
c.6250del (p.Gln2084SerfsTer24)
Xg.154896151G>ACA414899773F8c.6355C>T (p.Gln2119Ter)
c.6250C>T (p.Gln2084Ter)
 ClinVar dbSNP
Xg.154896151G>CCA414899775F8c.6355C>G (p.Gln2119Glu)
c.6250C>G (p.Gln2084Glu)
 dbSNP
Xg.154896151G=CA2466826021F8c.6355C= (p.Gln2119=)
c.6250C= (p.Gln2084=)
Xg.154896151G>TCA414899776F8c.6355C>A (p.Gln2119Lys)
c.6250C>A (p.Gln2084Lys)
Xg.154896152A>CCA519352684F8c.6354T>G (p.Ser2118=)
c.6249T>G (p.Ser2083=)
Xg.154896152A>GCA519352686F8c.6354T>C (p.Ser2118=)
c.6249T>C (p.Ser2083=)
Xg.154896152A>TCA519352688F8c.6354T>A (p.Ser2118=)
c.6249T>A (p.Ser2083=)
Xg.154896153G>ACA414899781F8c.6353C>T (p.Ser2118Phe)
c.6248C>T (p.Ser2083Phe)
Xg.154896153G>CCA414899785F8c.6353C>G (p.Ser2118Cys)
c.6248C>G (p.Ser2083Cys)
Xg.154896153G>TCA414899789F8c.6353C>A (p.Ser2118Tyr)
c.6248C>A (p.Ser2083Tyr)
Xg.154896154A>CCA414899799F8c.6352T>G (p.Ser2118Ala)
c.6247T>G (p.Ser2083Ala)
Xg.154896154A>GCA414899798F8c.6352T>C (p.Ser2118Pro)
c.6247T>C (p.Ser2083Pro)
Xg.154896154A>TCA414899797F8c.6352T>A (p.Ser2118Thr)
c.6247T>A (p.Ser2083Thr)
Xg.154896155G>ACA519352699F8c.6351C>T (p.Ile2117=)
c.6246C>T (p.Ile2082=)
Xg.154896155G>CCA414899801F8c.6351C>G (p.Ile2117Met)
c.6246C>G (p.Ile2082Met)
Xg.154896155G>TCA519352702F8c.6351C>A (p.Ile2117=)
c.6246C>A (p.Ile2082=)
 gnomAD v4
Xg.154896156A>CCA414899803F8c.6350T>G (p.Ile2117Ser)
c.6245T>G (p.Ile2082Ser)
Xg.154896156A>GCA414899805F8c.6350T>C (p.Ile2117Thr)
c.6245T>C (p.Ile2082Thr)
Xg.154896156A>TCA414899808F8c.6350T>A (p.Ile2117Asn)
c.6245T>A (p.Ile2082Asn)
Xg.154896157T>ACA414899811F8c.6349A>T (p.Ile2117Phe)
c.6244A>T (p.Ile2082Phe)
 dbSNP
Xg.154896157T>CCA414899813F8c.6349A>G (p.Ile2117Val)
c.6244A>G (p.Ile2082Val)
 gnomAD v4
Xg.154896157T>GCA414899822F8c.6349A>C (p.Ile2117Leu)
c.6244A>C (p.Ile2082Leu)
Xg.154896157T=CA2466826022F8c.6349A= (p.Ile2117=)
c.6244A= (p.Ile2082=)
Xg.154896158G>ACA519352714F8c.6348C>T (p.Tyr2116=)
c.6243C>T (p.Tyr2081=)
 gnomAD v4
Xg.154896158G>CCA414899824F8c.6348C>G (p.Tyr2116Ter)
c.6243C>G (p.Tyr2081Ter)
Xg.154896158G>TCA414899825F8c.6348C>A (p.Tyr2116Ter)
c.6243C>A (p.Tyr2081Ter)
Xg.154896159T>ACA414899826F8c.6347A>T (p.Tyr2116Phe)
c.6242A>T (p.Tyr2081Phe)
Xg.154896159T>CCA414899827F8c.6347A>G (p.Tyr2116Cys)
c.6242A>G (p.Tyr2081Cys)
Xg.154896159T>GCA414899830F8c.6347A>C (p.Tyr2116Ser)
c.6242A>C (p.Tyr2081Ser)
Xg.154896160A=CA2466826023F8c.6346T= (p.Tyr2116=)
c.6241T= (p.Tyr2081=)
Xg.154896160A>CCA414899845F8c.6346T>G (p.Tyr2116Asp)
c.6241T>G (p.Tyr2081Asp)
Xg.154896160A>GCA337315893F8c.6346T>C (p.Tyr2116His)
c.6241T>C (p.Tyr2081His)
 ClinVar dbSNP
Xg.154896160A>TCA414899840F8c.6346T>A (p.Tyr2116Asn)
c.6241T>A (p.Tyr2081Asn)
Xg.154896161G>ACA519352729F8c.6345C>T (p.Leu2115=)
c.6240C>T (p.Leu2080=)
Xg.154896161G>CCA519352731F8c.6345C>G (p.Leu2115=)
c.6240C>G (p.Leu2080=)
Xg.154896161G>TCA519352733F8c.6345C>A (p.Leu2115=)
c.6240C>A (p.Leu2080=)
Xg.154896162delCA2695237826F8c.6344del (p.Leu2115ProfsTer28)
c.6239del (p.Leu2080ProfsTer28)
Xg.154896162A>CCA414899850F8c.6344T>G (p.Leu2115Arg)
c.6239T>G (p.Leu2080Arg)
Xg.154896162A>GCA414899862F8c.6344T>C (p.Leu2115Pro)
c.6239T>C (p.Leu2080Pro)
Xg.154896162A>TCA414899860F8c.6344T>A (p.Leu2115His)
c.6239T>A (p.Leu2080His)
Xg.154896163G>ACA414899868F8c.6343C>T (p.Leu2115Phe)
c.6238C>T (p.Leu2080Phe)
Xg.154896163G>CCA414899869F8c.6343C>G (p.Leu2115Val)
c.6238C>G (p.Leu2080Val)
Xg.154896163G>TCA414899872F8c.6343C>A (p.Leu2115Ile)
c.6238C>A (p.Leu2080Ile)
Xg.154896164delCA2695237827F8c.6343del (p.Leu2115SerfsTer28)
c.6238del (p.Leu2080SerfsTer28)
Xg.154896164G>ACA519352745F8c.6342C>T (p.Ser2114=)
c.6237C>T (p.Ser2079=)
Xg.154896164G>CCA414899874F8c.6342C>G (p.Ser2114Arg)
c.6237C>G (p.Ser2079Arg)
Xg.154896164G>TCA414899878F8c.6342C>A (p.Ser2114Arg)
c.6237C>A (p.Ser2079Arg)
 gnomAD v4
Xg.154896165C>ACA414899883F8c.6341G>T (p.Ser2114Ile)
c.6236G>T (p.Ser2079Ile)
Xg.154896165C>GCA414899887F8c.6341G>C (p.Ser2114Thr)
c.6236G>C (p.Ser2079Thr)
Xg.154896165C>TCA414899896F8c.6341G>A (p.Ser2114Asn)
c.6236G>A (p.Ser2079Asn)
Xg.154896166T>ACA414899900F8c.6340A>T (p.Ser2114Cys)
c.6235A>T (p.Ser2079Cys)
Xg.154896166T>CCA414899901F8c.6340A>G (p.Ser2114Gly)
c.6235A>G (p.Ser2079Gly)
Xg.154896166T>GCA414899903F8c.6340A>C (p.Ser2114Arg)
c.6235A>C (p.Ser2079Arg)
Xg.154896167G>ACA519352761F8c.6339C>T (p.Ser2113=)
c.6234C>T (p.Ser2078=)
Xg.154896167G>CCA519352759F8c.6339C>G (p.Ser2113=)
c.6234C>G (p.Ser2078=)
Xg.154896167G>TCA519352757F8c.6339C>A (p.Ser2113=)
c.6234C>A (p.Ser2078=)
Xg.154896168G>ACA414899918F8c.6338C>T (p.Ser2113Phe)
c.6233C>T (p.Ser2078Phe)
Xg.154896168G>CCA414899907F8c.6338C>G (p.Ser2113Cys)
c.6233C>G (p.Ser2078Cys)
Xg.154896168G=CA2466826024F8c.6338C= (p.Ser2113=)
c.6233C= (p.Ser2078=)
Xg.154896168G>TCA337315897F8c.6338C>A (p.Ser2113Tyr)
c.6233C>A (p.Ser2078Tyr)
 dbSNP gnomAD v4

Number of alleles fetched