Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54627693A=CA1785188847RP1c.3811A= (p.Lys1271=)
c.787+5405A= (n.787+5405A=)
c.3832A= (p.Lys1278=)
8g.54627693A>CCA370997324RP1c.3811A>C (p.Lys1271Gln)
c.787+5405A>C (n.787+5405A>C)
c.3832A>C (p.Lys1278Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.54627693A>GCA4751750RP1c.3811A>G (p.Lys1271Glu)
c.787+5405A>G (n.787+5405A>G)
c.3832A>G (p.Lys1278Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627693A>TCA370997325RP1c.3811A>T (p.Lys1271Ter)
c.787+5405A>T (n.787+5405A>T)
c.3832A>T (p.Lys1278Ter)
8g.54627694A>CCA370997326RP1c.3812A>C (p.Lys1271Thr)
c.787+5406A>C (n.787+5406A>C)
c.3833A>C (p.Lys1278Thr)
8g.54627694A>GCA370997327RP1c.3812A>G (p.Lys1271Arg)
c.787+5406A>G (n.787+5406A>G)
c.3833A>G (p.Lys1278Arg)
8g.54627694A>TCA370997328RP1c.3812A>T (p.Lys1271Ile)
c.787+5406A>T (n.787+5406A>T)
c.3833A>T (p.Lys1278Ile)
8g.54627695A>CCA370997329RP1c.3813A>C (p.Lys1271Asn)
c.787+5407A>C (n.787+5407A>C)
c.3834A>C (p.Lys1278Asn)
8g.54627695A>GCA461099717RP1c.3813A>G (p.Lys1271=)
c.787+5407A>G (n.787+5407A>G)
c.3834A>G (p.Lys1278=)
8g.54627695A>TCA370997330RP1c.3813A>T (p.Lys1271Asn)
c.787+5407A>T (n.787+5407A>T)
c.3834A>T (p.Lys1278Asn)
8g.54627696G>ACA370997331RP1c.3814G>A (p.Glu1272Lys)
c.787+5408G>A (n.787+5408G>A)
c.3835G>A (p.Glu1279Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.54627696G>CCA370997332RP1c.3814G>C (p.Glu1272Gln)
c.787+5408G>C (n.787+5408G>C)
c.3835G>C (p.Glu1279Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.54627696G=CA1785188848RP1c.3814G= (p.Glu1272=)
c.787+5408G= (n.787+5408G=)
c.3835G= (p.Glu1279=)
8g.54627696G>TCA370997333RP1c.3814G>T (p.Glu1272Ter)
c.787+5408G>T (n.787+5408G>T)
c.3835G>T (p.Glu1279Ter)
8g.54627697A>CCA370997334RP1c.3815A>C (p.Glu1272Ala)
c.787+5409A>C (n.787+5409A>C)
c.3836A>C (p.Glu1279Ala)
8g.54627697A>GCA370997335RP1c.3815A>G (p.Glu1272Gly)
c.787+5409A>G (n.787+5409A>G)
c.3836A>G (p.Glu1279Gly)
8g.54627697A>TCA370997336RP1c.3815A>T (p.Glu1272Val)
c.787+5409A>T (n.787+5409A>T)
c.3836A>T (p.Glu1279Val)
8g.54627698G>ACA461099718RP1c.3816G>A (p.Glu1272=)
c.787+5410G>A (n.787+5410G>A)
c.3837G>A (p.Glu1279=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54627698G>CCA370997337RP1c.3816G>C (p.Glu1272Asp)
c.787+5410G>C (n.787+5410G>C)
c.3837G>C (p.Glu1279Asp)
8g.54627698G=CA1785188849RP1c.3816G= (p.Glu1272=)
c.787+5410G= (n.787+5410G=)
c.3837G= (p.Glu1279=)
8g.54627698G>TCA4751751RP1c.3816G>T (p.Glu1272Asp)
c.787+5410G>T (n.787+5410G>T)
c.3837G>T (p.Glu1279Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627699A>CCA370997338RP1c.3817A>C (p.Thr1273Pro)
c.787+5411A>C (n.787+5411A>C)
c.3838A>C (p.Thr1280Pro)
8g.54627699A>GCA370997339RP1c.3817A>G (p.Thr1273Ala)
c.787+5411A>G (n.787+5411A>G)
c.3838A>G (p.Thr1280Ala)
8g.54627699A>TCA370997340RP1c.3817A>T (p.Thr1273Ser)
c.787+5411A>T (n.787+5411A>T)
c.3838A>T (p.Thr1280Ser)
8g.54627700C>ACA370997342RP1c.3818C>A (p.Thr1273Lys)
c.787+5412C>A (n.787+5412C>A)
c.3839C>A (p.Thr1280Lys)
 COSMIC
8g.54627700C=CA1785188850RP1c.3818C= (p.Thr1273=)
c.787+5412C= (n.787+5412C=)
c.3839C= (p.Thr1280=)
8g.54627700C>GCA370997343RP1c.3818C>G (p.Thr1273Arg)
c.787+5412C>G (n.787+5412C>G)
c.3839C>G (p.Thr1280Arg)
8g.54627700C>TCA370997341RP1c.3818C>T (p.Thr1273Ile)
c.787+5412C>T (n.787+5412C>T)
c.3839C>T (p.Thr1280Ile)
 dbSNP gnomAD v4
8g.54627701A=CA1785188851RP1c.3819A= (p.Thr1273=)
c.787+5413A= (n.787+5413A=)
c.3840A= (p.Thr1280=)
8g.54627701A>CCA461099719RP1c.3819A>C (p.Thr1273=)
c.787+5413A>C (n.787+5413A>C)
c.3840A>C (p.Thr1280=)
 gnomAD v4
8g.54627701A>GCA4751752RP1c.3819A>G (p.Thr1273=)
c.787+5413A>G (n.787+5413A>G)
c.3840A>G (p.Thr1280=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627701A>TCA461099720RP1c.3819A>T (p.Thr1273=)
c.787+5413A>T (n.787+5413A>T)
c.3840A>T (p.Thr1280=)
 gnomAD v4
8g.54627702T>ACA370997344RP1c.3820T>A (p.Cys1274Ser)
c.787+5414T>A (n.787+5414T>A)
c.3841T>A (p.Cys1281Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.54627702T>CCA4751753RP1c.3820T>C (p.Cys1274Arg)
c.787+5414T>C (n.787+5414T>C)
c.3841T>C (p.Cys1281Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627702T>GCA370997345RP1c.3820T>G (p.Cys1274Gly)
c.787+5414T>G (n.787+5414T>G)
c.3841T>G (p.Cys1281Gly)
 gnomAD v4
8g.54627702T=CA1785188852RP1c.3820T= (p.Cys1274=)
c.787+5414T= (n.787+5414T=)
c.3841T= (p.Cys1281=)
8g.54627703G>ACA4751754RP1c.3821G>A (p.Cys1274Tyr)
c.787+5415G>A (n.787+5415G>A)
c.3842G>A (p.Cys1281Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627703G>CCA370997346RP1c.3821G>C (p.Cys1274Ser)
c.787+5415G>C (n.787+5415G>C)
c.3842G>C (p.Cys1281Ser)
 dbSNP
8g.54627703G=CA1785188853RP1c.3821G= (p.Cys1274=)
c.787+5415G= (n.787+5415G=)
c.3842G= (p.Cys1281=)
8g.54627703G>TCA370997347RP1c.3821G>T (p.Cys1274Phe)
c.787+5415G>T (n.787+5415G>T)
c.3842G>T (p.Cys1281Phe)
8g.54627704T>ACA370997348RP1c.3822T>A (p.Cys1274Ter)
c.787+5416T>A (n.787+5416T>A)
c.3843T>A (p.Cys1281Ter)
8g.54627704T>CCA461099721RP1c.3822T>C (p.Cys1274=)
c.787+5416T>C (n.787+5416T>C)
c.3843T>C (p.Cys1281=)
8g.54627704T>GCA370997349RP1c.3822T>G (p.Cys1274Trp)
c.787+5416T>G (n.787+5416T>G)
c.3843T>G (p.Cys1281Trp)
8g.54627705A>CCA370997350RP1c.3823A>C (p.Asn1275His)
c.787+5417A>C (n.787+5417A>C)
c.3844A>C (p.Asn1282His)
8g.54627705A>GCA370997351RP1c.3823A>G (p.Asn1275Asp)
c.787+5417A>G (n.787+5417A>G)
c.3844A>G (p.Asn1282Asp)
8g.54627705A>TCA370997352RP1c.3823A>T (p.Asn1275Tyr)
c.787+5417A>T (n.787+5417A>T)
c.3844A>T (p.Asn1282Tyr)
8g.54627706A=CA1785188854RP1c.3824A= (p.Asn1275=)
c.787+5418A= (n.787+5418A=)
c.3845A= (p.Asn1282=)
8g.54627706A>CCA370997354RP1c.3824A>C (p.Asn1275Thr)
c.787+5418A>C (n.787+5418A>C)
c.3845A>C (p.Asn1282Thr)
8g.54627706A>GCA370997355RP1c.3824A>G (p.Asn1275Ser)
c.787+5418A>G (n.787+5418A>G)
c.3845A>G (p.Asn1282Ser)
8g.54627706A>TCA370997353RP1c.3824A>T (p.Asn1275Ile)
c.787+5418A>T (n.787+5418A>T)
c.3845A>T (p.Asn1282Ile)
8g.54627707C>ACA370997356RP1c.3825C>A (p.Asn1275Lys)
c.787+5419C>A (n.787+5419C>A)
c.3846C>A (p.Asn1282Lys)
8g.54627707C>GCA370997357RP1c.3825C>G (p.Asn1275Lys)
c.787+5419C>G (n.787+5419C>G)
c.3846C>G (p.Asn1282Lys)
8g.54627707C>TCA461099722RP1c.3825C>T (p.Asn1275=)
c.787+5419C>T (n.787+5419C>T)
c.3846C>T (p.Asn1282=)
8g.54627710dupCA177237769RP1c.3828dup (p.Ser1277GlnfsTer2)
c.787+5422dup (n.787+5422dup)
c.3849dup (p.Ser1284GlnfsTer2)
 dbSNP
8g.54627708C>ACA370997358RP1c.3826C>A (p.Pro1276Thr)
c.787+5420C>A (n.787+5420C>A)
c.3847C>A (p.Pro1283Thr)
8g.54627708C=CA1785188855RP1c.3826C= (p.Pro1276=)
c.787+5420C= (n.787+5420C=)
c.3847C= (p.Pro1283=)
8g.54627708C>GCA370997359RP1c.3826C>G (p.Pro1276Ala)
c.787+5420C>G (n.787+5420C>G)
c.3847C>G (p.Pro1283Ala)
8g.54627708C>TCA245314RP1c.3826C>T (p.Pro1276Ser)
c.787+5420C>T (n.787+5420C>T)
c.3847C>T (p.Pro1283Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627709C>ACA370997362RP1c.3827C>A (p.Pro1276His)
c.787+5421C>A (n.787+5421C>A)
c.3848C>A (p.Pro1283His)
8g.54627709C=CA1785188856RP1c.3827C= (p.Pro1276=)
c.787+5421C= (n.787+5421C=)
c.3848C= (p.Pro1283=)
8g.54627709C>GCA370997360RP1c.3827C>G (p.Pro1276Arg)
c.787+5421C>G (n.787+5421C>G)
c.3848C>G (p.Pro1283Arg)
 gnomAD v4
8g.54627709C>TCA370997361RP1c.3827C>T (p.Pro1276Leu)
c.787+5421C>T (n.787+5421C>T)
c.3848C>T (p.Pro1283Leu)
 ClinVar dbSNP
8g.54627709_54627719delCA2740095046RP1c.3827_3837del (p.Pro1276LeufsTer4)
c.787+5421_787+5431del (n.787+5421_787+5431del)
c.3848_3858del (p.Pro1283LeufsTer4)
 ClinVar
8g.54627710C>ACA461099723RP1c.3828C>A (p.Pro1276=)
c.787+5422C>A (n.787+5422C>A)
c.3849C>A (p.Pro1283=)
8g.54627710C>GCA461099724RP1c.3828C>G (p.Pro1276=)
c.787+5422C>G (n.787+5422C>G)
c.3849C>G (p.Pro1283=)
8g.54627710C>TCA461099725RP1c.3828C>T (p.Pro1276=)
c.787+5422C>T (n.787+5422C>T)
c.3849C>T (p.Pro1283=)
8g.54627711A=CA1785188857RP1c.3829A= (p.Ser1277=)
c.787+5423A= (n.787+5423A=)
c.3850A= (p.Ser1284=)
8g.54627711A>CCA370997363RP1c.3829A>C (p.Ser1277Arg)
c.787+5423A>C (n.787+5423A>C)
c.3850A>C (p.Ser1284Arg)
8g.54627711A>GCA370997364RP1c.3829A>G (p.Ser1277Gly)
c.787+5423A>G (n.787+5423A>G)
c.3850A>G (p.Ser1284Gly)
 dbSNP gnomAD v4
8g.54627711A>TCA370997365RP1c.3829A>T (p.Ser1277Cys)
c.787+5423A>T (n.787+5423A>T)
c.3850A>T (p.Ser1284Cys)
8g.54627712G>ACA370997366RP1c.3830G>A (p.Ser1277Asn)
c.787+5424G>A (n.787+5424G>A)
c.3851G>A (p.Ser1284Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54627712G>CCA370997367RP1c.3830G>C (p.Ser1277Thr)
c.787+5424G>C (n.787+5424G>C)
c.3851G>C (p.Ser1284Thr)
8g.54627712G=CA1785188858RP1c.3830G= (p.Ser1277=)
c.787+5424G= (n.787+5424G=)
c.3851G= (p.Ser1284=)
8g.54627712G>TCA370997368RP1c.3830G>T (p.Ser1277Ile)
c.787+5424G>T (n.787+5424G>T)
c.3851G>T (p.Ser1284Ile)
8g.54627713T>ACA370997370RP1c.3831T>A (p.Ser1277Arg)
c.787+5425T>A (n.787+5425T>A)
c.3852T>A (p.Ser1284Arg)
8g.54627713T>CCA461099726RP1c.3831T>C (p.Ser1277=)
c.787+5425T>C (n.787+5425T>C)
c.3852T>C (p.Ser1284=)
8g.54627713T>GCA370997369RP1c.3831T>G (p.Ser1277Arg)
c.787+5425T>G (n.787+5425T>G)
c.3852T>G (p.Ser1284Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54627713T=CA1785188859RP1c.3831T= (p.Ser1277=)
c.787+5425T= (n.787+5425T=)
c.3852T= (p.Ser1284=)
8g.54627714G>ACA370997371RP1c.3832G>A (p.Asp1278Asn)
c.787+5426G>A (n.787+5426G>A)
c.3853G>A (p.Asp1285Asn)
8g.54627714G>CCA370997373RP1c.3832G>C (p.Asp1278His)
c.787+5426G>C (n.787+5426G>C)
c.3853G>C (p.Asp1285His)
8g.54627714G>TCA370997372RP1c.3832G>T (p.Asp1278Tyr)
c.787+5426G>T (n.787+5426G>T)
c.3853G>T (p.Asp1285Tyr)
8g.54627715A>CCA370997374RP1c.3833A>C (p.Asp1278Ala)
c.787+5427A>C (n.787+5427A>C)
c.3854A>C (p.Asp1285Ala)
8g.54627715A>GCA370997376RP1c.3833A>G (p.Asp1278Gly)
c.787+5427A>G (n.787+5427A>G)
c.3854A>G (p.Asp1285Gly)
8g.54627715A>TCA370997375RP1c.3833A>T (p.Asp1278Val)
c.787+5427A>T (n.787+5427A>T)
c.3854A>T (p.Asp1285Val)
8g.54627716C>ACA370997377RP1c.3834C>A (p.Asp1278Glu)
c.787+5428C>A (n.787+5428C>A)
c.3855C>A (p.Asp1285Glu)
8g.54627716C=CA1785188860RP1c.3834C= (p.Asp1278=)
c.787+5428C= (n.787+5428C=)
c.3855C= (p.Asp1285=)
8g.54627716C>GCA370997378RP1c.3834C>G (p.Asp1278Glu)
c.787+5428C>G (n.787+5428C>G)
c.3855C>G (p.Asp1285Glu)
8g.54627716C>TCA461099727RP1c.3834C>T (p.Asp1278=)
c.787+5428C>T (n.787+5428C>T)
c.3855C>T (p.Asp1285=)
 dbSNP gnomAD v2 gnomAD v4
8g.54627717A=CA1785188861RP1c.3835A= (p.Thr1279=)
c.787+5429A= (n.787+5429A=)
c.3856A= (p.Thr1286=)
8g.54627717A>CCA370997379RP1c.3835A>C (p.Thr1279Pro)
c.787+5429A>C (n.787+5429A>C)
c.3856A>C (p.Thr1286Pro)
8g.54627717A>GCA370997380RP1c.3835A>G (p.Thr1279Ala)
c.787+5429A>G (n.787+5429A>G)
c.3856A>G (p.Thr1286Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54627717A>TCA370997381RP1c.3835A>T (p.Thr1279Ser)
c.787+5429A>T (n.787+5429A>T)
c.3856A>T (p.Thr1286Ser)
8g.54627718delCA2687301874RP1c.3836del (p.Thr1279IlefsTer15)
c.787+5430del (n.787+5430del)
c.3857del (p.Thr1286IlefsTer15)
 gnomAD v4
8g.54627718C>ACA370997382RP1c.3836C>A (p.Thr1279Asn)
c.787+5430C>A (n.787+5430C>A)
c.3857C>A (p.Thr1286Asn)
 dbSNP gnomAD v2 gnomAD v4
8g.54627718C=CA1785188863RP1c.3836C= (p.Thr1279=)
c.787+5430C= (n.787+5430C=)
c.3857C= (p.Thr1286=)
8g.54627718C>GCA370997383RP1c.3836C>G (p.Thr1279Ser)
c.787+5430C>G (n.787+5430C>G)
c.3857C>G (p.Thr1286Ser)
 dbSNP
8g.54627718C>TCA370997384RP1c.3836C>T (p.Thr1279Ile)
c.787+5430C>T (n.787+5430C>T)
c.3857C>T (p.Thr1286Ile)
8g.54627718_54627719delinsCTCA1785188862RP1c.3836_3837delinsCT (p.Thr1279=)
c.787+5430_787+5431delinsCT (n.787+5430_787+5431delinsCT)
c.3857_3858delinsCT (p.Thr1286=)
8g.54627719T>ACA461099729RP1c.3837T>A (p.Thr1279=)
c.787+5431T>A (n.787+5431T>A)
c.3858T>A (p.Thr1286=)
8g.54627719T>CCA461099730RP1c.3837T>C (p.Thr1279=)
c.787+5431T>C (n.787+5431T>C)
c.3858T>C (p.Thr1286=)
8g.54627719T>GCA461099728RP1c.3837T>G (p.Thr1279=)
c.787+5431T>G (n.787+5431T>G)
c.3858T>G (p.Thr1286=)
8g.54627725dupCA4751755RP1c.3843dup (p.Pro1282SerfsTer2)
c.787+5437dup (n.787+5437dup)
c.3864dup (p.Pro1289SerfsTer2)
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
8g.54627725delCA645509462RP1c.3843del (p.Pro1282LeufsTer12)
c.787+5437del (n.787+5437del)
c.3864del (p.Pro1289LeufsTer12)
 ClinVar dbSNP gnomAD v4 COSMIC
8g.54627720T>ACA370997385RP1c.3838T>A (p.Phe1280Ile)
c.787+5432T>A (n.787+5432T>A)
c.3859T>A (p.Phe1287Ile)
 gnomAD v4
8g.54627720T>CCA370997386RP1c.3838T>C (p.Phe1280Leu)
c.787+5432T>C (n.787+5432T>C)
c.3859T>C (p.Phe1287Leu)
8g.54627720T>GCA4751756RP1c.3838T>G (p.Phe1280Val)
c.787+5432T>G (n.787+5432T>G)
c.3859T>G (p.Phe1287Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627720T=CA1785188864RP1c.3838T= (p.Phe1280=)
c.787+5432T= (n.787+5432T=)
c.3859T= (p.Phe1287=)
8g.54627721T>ACA370997387RP1c.3839T>A (p.Phe1280Tyr)
c.787+5433T>A (n.787+5433T>A)
c.3860T>A (p.Phe1287Tyr)
8g.54627721T>CCA370997388RP1c.3839T>C (p.Phe1280Ser)
c.787+5433T>C (n.787+5433T>C)
c.3860T>C (p.Phe1287Ser)
8g.54627721T>GCA370997389RP1c.3839T>G (p.Phe1280Cys)
c.787+5433T>G (n.787+5433T>G)
c.3860T>G (p.Phe1287Cys)
8g.54627722T>ACA370997390RP1c.3840T>A (p.Phe1280Leu)
c.787+5434T>A (n.787+5434T>A)
c.3861T>A (p.Phe1287Leu)
8g.54627722T>CCA461099732RP1c.3840T>C (p.Phe1280=)
c.787+5434T>C (n.787+5434T>C)
c.3861T>C (p.Phe1287=)
8g.54627722T>GCA370997391RP1c.3840T>G (p.Phe1280Leu)
c.787+5434T>G (n.787+5434T>G)
c.3861T>G (p.Phe1287Leu)
8g.54627723T>ACA370997392RP1c.3841T>A (p.Phe1281Ile)
c.787+5435T>A (n.787+5435T>A)
c.3862T>A (p.Phe1288Ile)
8g.54627723T>CCA370997393RP1c.3841T>C (p.Phe1281Leu)
c.787+5435T>C (n.787+5435T>C)
c.3862T>C (p.Phe1288Leu)
8g.54627723T>GCA370997394RP1c.3841T>G (p.Phe1281Val)
c.787+5435T>G (n.787+5435T>G)
c.3862T>G (p.Phe1288Val)
8g.54627724T>ACA370997395RP1c.3842T>A (p.Phe1281Tyr)
c.787+5436T>A (n.787+5436T>A)
c.3863T>A (p.Phe1288Tyr)
8g.54627724T>CCA370997396RP1c.3842T>C (p.Phe1281Ser)
c.787+5436T>C (n.787+5436T>C)
c.3863T>C (p.Phe1288Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.54627724T>GCA370997397RP1c.3842T>G (p.Phe1281Cys)
c.787+5436T>G (n.787+5436T>G)
c.3863T>G (p.Phe1288Cys)
8g.54627724T=CA1785188865RP1c.3842T= (p.Phe1281=)
c.787+5436T= (n.787+5436T=)
c.3863T= (p.Phe1288=)
8g.54627725T>ACA370997398RP1c.3843T>A (p.Phe1281Leu)
c.787+5437T>A (n.787+5437T>A)
c.3864T>A (p.Phe1288Leu)
8g.54627725T>CCA461099733RP1c.3843T>C (p.Phe1281=)
c.787+5437T>C (n.787+5437T>C)
c.3864T>C (p.Phe1288=)
 gnomAD v4
8g.54627725T>GCA370997399RP1c.3843T>G (p.Phe1281Leu)
c.787+5437T>G (n.787+5437T>G)
c.3864T>G (p.Phe1288Leu)
8g.54627726C>ACA370997400RP1c.3844C>A (p.Pro1282Thr)
c.787+5438C>A (n.787+5438C>A)
c.3865C>A (p.Pro1289Thr)
8g.54627726C=CA1785188866RP1c.3844C= (p.Pro1282=)
c.787+5438C= (n.787+5438C=)
c.3865C= (p.Pro1289=)
8g.54627726C>GCA370997401RP1c.3844C>G (p.Pro1282Ala)
c.787+5438C>G (n.787+5438C>G)
c.3865C>G (p.Pro1289Ala)
8g.54627726C>TCA177237778RP1c.3844C>T (p.Pro1282Ser)
c.787+5438C>T (n.787+5438C>T)
c.3865C>T (p.Pro1289Ser)
 dbSNP COSMIC
8g.54627727C>ACA370997403RP1c.3845C>A (p.Pro1282His)
c.787+5439C>A (n.787+5439C>A)
c.3866C>A (p.Pro1289His)
8g.54627727C=CA1785188867RP1c.3845C= (p.Pro1282=)
c.787+5439C= (n.787+5439C=)
c.3866C= (p.Pro1289=)
8g.54627727C>GCA370997402RP1c.3845C>G (p.Pro1282Arg)
c.787+5439C>G (n.787+5439C>G)
c.3866C>G (p.Pro1289Arg)
 gnomAD v4
8g.54627727C>TCA177237781RP1c.3845C>T (p.Pro1282Leu)
c.787+5439C>T (n.787+5439C>T)
c.3866C>T (p.Pro1289Leu)
 dbSNP gnomAD v4
8g.54627728T>ACA4751757RP1c.3846T>A (p.Pro1282=)
c.787+5440T>A (n.787+5440T>A)
c.3867T>A (p.Pro1289=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627728T>CCA461099736RP1c.3846T>C (p.Pro1282=)
c.787+5440T>C (n.787+5440T>C)
c.3867T>C (p.Pro1289=)
 COSMIC
8g.54627728T>GCA461099737RP1c.3846T>G (p.Pro1282=)
c.787+5440T>G (n.787+5440T>G)
c.3867T>G (p.Pro1289=)
8g.54627728T=CA1785188868RP1c.3846T= (p.Pro1282=)
c.787+5440T= (n.787+5440T=)
c.3867T= (p.Pro1289=)
8g.54627729A>CCA370997404RP1c.3847A>C (p.Ser1283Arg)
c.787+5441A>C (n.787+5441A>C)
c.3868A>C (p.Ser1290Arg)
 gnomAD v4
8g.54627729A>GCA370997405RP1c.3847A>G (p.Ser1283Gly)
c.787+5441A>G (n.787+5441A>G)
c.3868A>G (p.Ser1290Gly)
 gnomAD v4
8g.54627729A>TCA370997406RP1c.3847A>T (p.Ser1283Cys)
c.787+5441A>T (n.787+5441A>T)
c.3868A>T (p.Ser1290Cys)
8g.54627730G>ACA370997407RP1c.3848G>A (p.Ser1283Asn)
c.787+5442G>A (n.787+5442G>A)
c.3869G>A (p.Ser1290Asn)
8g.54627730G>CCA370997408RP1c.3848G>C (p.Ser1283Thr)
c.787+5442G>C (n.787+5442G>C)
c.3869G>C (p.Ser1290Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.54627730G=CA1785188869RP1c.3848G= (p.Ser1283=)
c.787+5442G= (n.787+5442G=)
c.3869G= (p.Ser1290=)
8g.54627730G>TCA4751758RP1c.3848G>T (p.Ser1283Ile)
c.787+5442G>T (n.787+5442G>T)
c.3869G>T (p.Ser1290Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627731T>ACA370997409RP1c.3849T>A (p.Ser1283Arg)
c.787+5443T>A (n.787+5443T>A)
c.3870T>A (p.Ser1290Arg)
8g.54627731T>CCA461099740RP1c.3849T>C (p.Ser1283=)
c.787+5443T>C (n.787+5443T>C)
c.3870T>C (p.Ser1290=)
8g.54627731T>GCA370997410RP1c.3849T>G (p.Ser1283Arg)
c.787+5443T>G (n.787+5443T>G)
c.3870T>G (p.Ser1290Arg)
8g.54627732G>ACA370997411RP1c.3850G>A (p.Asp1284Asn)
c.787+5444G>A (n.787+5444G>A)
c.3871G>A (p.Asp1291Asn)
8g.54627732G>CCA370997412RP1c.3850G>C (p.Asp1284His)
c.787+5444G>C (n.787+5444G>C)
c.3871G>C (p.Asp1291His)
8g.54627732G=CA1785188870RP1c.3850G= (p.Asp1284=)
c.787+5444G= (n.787+5444G=)
c.3871G= (p.Asp1291=)
8g.54627732G>TCA4751759RP1c.3850G>T (p.Asp1284Tyr)
c.787+5444G>T (n.787+5444G>T)
c.3871G>T (p.Asp1291Tyr)
 dbSNP ExAC gnomAD v4
8g.54627733A>CCA370997415RP1c.3851A>C (p.Asp1284Ala)
c.787+5445A>C (n.787+5445A>C)
c.3872A>C (p.Asp1291Ala)
8g.54627733A>GCA370997413RP1c.3851A>G (p.Asp1284Gly)
c.787+5445A>G (n.787+5445A>G)
c.3872A>G (p.Asp1291Gly)
8g.54627733A>TCA370997414RP1c.3851A>T (p.Asp1284Val)
c.787+5445A>T (n.787+5445A>T)
c.3872A>T (p.Asp1291Val)
8g.54627734T>ACA370997416RP1c.3852T>A (p.Asp1284Glu)
c.787+5446T>A (n.787+5446T>A)
c.3873T>A (p.Asp1291Glu)
8g.54627734T>CCA461099742RP1c.3852T>C (p.Asp1284=)
c.787+5446T>C (n.787+5446T>C)
c.3873T>C (p.Asp1291=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.54627734T>GCA370997417RP1c.3852T>G (p.Asp1284Glu)
c.787+5446T>G (n.787+5446T>G)
c.3873T>G (p.Asp1291Glu)
8g.54627734T=CA1785188871RP1c.3852T= (p.Asp1284=)
c.787+5446T= (n.787+5446T=)
c.3873T= (p.Asp1291=)
8g.54627735G>ACA370997418RP1c.3853G>A (p.Gly1285Ser)
c.787+5447G>A (n.787+5447G>A)
c.3874G>A (p.Gly1292Ser)
8g.54627735G>CCA370997419RP1c.3853G>C (p.Gly1285Arg)
c.787+5447G>C (n.787+5447G>C)
c.3874G>C (p.Gly1292Arg)
8g.54627735G>TCA370997420RP1c.3853G>T (p.Gly1285Cys)
c.787+5447G>T (n.787+5447G>T)
c.3874G>T (p.Gly1292Cys)
8g.54627736G>ACA370997421RP1c.3854G>A (p.Gly1285Asp)
c.787+5448G>A (n.787+5448G>A)
c.3875G>A (p.Gly1292Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.54627736G>CCA370997422RP1c.3854G>C (p.Gly1285Ala)
c.787+5448G>C (n.787+5448G>C)
c.3875G>C (p.Gly1292Ala)
8g.54627736G=CA1785188872RP1c.3854G= (p.Gly1285=)
c.787+5448G= (n.787+5448G=)
c.3875G= (p.Gly1292=)
8g.54627736G>TCA370997423RP1c.3854G>T (p.Gly1285Val)
c.787+5448G>T (n.787+5448G>T)
c.3875G>T (p.Gly1292Val)
8g.54627737T>ACA461099744RP1c.3855T>A (p.Gly1285=)
c.787+5449T>A (n.787+5449T>A)
c.3876T>A (p.Gly1292=)
8g.54627737T>CCA461099745RP1c.3855T>C (p.Gly1285=)
c.787+5449T>C (n.787+5449T>C)
c.3876T>C (p.Gly1292=)
8g.54627737T>GCA461099746RP1c.3855T>G (p.Gly1285=)
c.787+5449T>G (n.787+5449T>G)
c.3876T>G (p.Gly1292=)
8g.54627738T>ACA370997424RP1c.3856T>A (p.Tyr1286Asn)
c.787+5450T>A (n.787+5450T>A)
c.3877T>A (p.Tyr1293Asn)
8g.54627738T>CCA370997425RP1c.3856T>C (p.Tyr1286His)
c.787+5450T>C (n.787+5450T>C)
c.3877T>C (p.Tyr1293His)
8g.54627738T>GCA370997426RP1c.3856T>G (p.Tyr1286Asp)
c.787+5450T>G (n.787+5450T>G)
c.3877T>G (p.Tyr1293Asp)
8g.54627739A=CA1785188873RP1c.3857A= (p.Tyr1286=)
c.787+5451A= (n.787+5451A=)
c.3878A= (p.Tyr1293=)
8g.54627739A>CCA370997428RP1c.3857A>C (p.Tyr1286Ser)
c.787+5451A>C (n.787+5451A>C)
c.3878A>C (p.Tyr1293Ser)
8g.54627739A>GCA177237791RP1c.3857A>G (p.Tyr1286Cys)
c.787+5451A>G (n.787+5451A>G)
c.3878A>G (p.Tyr1293Cys)
 dbSNP gnomAD v4
8g.54627739A>TCA370997427RP1c.3857A>T (p.Tyr1286Phe)
c.787+5451A>T (n.787+5451A>T)
c.3878A>T (p.Tyr1293Phe)
8g.54627740T>ACA370997429RP1c.3858T>A (p.Tyr1286Ter)
c.787+5452T>A (n.787+5452T>A)
c.3879T>A (p.Tyr1293Ter)
8g.54627740T>CCA461099752RP1c.3858T>C (p.Tyr1286=)
c.787+5452T>C (n.787+5452T>C)
c.3879T>C (p.Tyr1293=)
8g.54627740T>GCA370997430RP1c.3858T>G (p.Tyr1286Ter)
c.787+5452T>G (n.787+5452T>G)
c.3879T>G (p.Tyr1293Ter)
8g.54627741G>ACA370997431RP1c.3859G>A (p.Gly1287Ser)
c.787+5453G>A (n.787+5453G>A)
c.3880G>A (p.Gly1294Ser)
8g.54627741G>CCA370997432RP1c.3859G>C (p.Gly1287Arg)
c.787+5453G>C (n.787+5453G>C)
c.3880G>C (p.Gly1294Arg)
8g.54627741G>TCA370997433RP1c.3859G>T (p.Gly1287Cys)
c.787+5453G>T (n.787+5453G>T)
c.3880G>T (p.Gly1294Cys)
 COSMIC
8g.54627742G>ACA370997434RP1c.3860G>A (p.Gly1287Asp)
c.787+5454G>A (n.787+5454G>A)
c.3881G>A (p.Gly1294Asp)
 dbSNP gnomAD v4
8g.54627742G>CCA370997435RP1c.3860G>C (p.Gly1287Ala)
c.787+5454G>C (n.787+5454G>C)
c.3881G>C (p.Gly1294Ala)
8g.54627742G=CA1785188874RP1c.3860G= (p.Gly1287=)
c.787+5454G= (n.787+5454G=)
c.3881G= (p.Gly1294=)
8g.54627742G>TCA370997436RP1c.3860G>T (p.Gly1287Val)
c.787+5454G>T (n.787+5454G>T)
c.3881G>T (p.Gly1294Val)
8g.54627743T>ACA461099754RP1c.3861T>A (p.Gly1287=)
c.787+5455T>A (n.787+5455T>A)
c.3882T>A (p.Gly1294=)
8g.54627743T>CCA461099755RP1c.3861T>C (p.Gly1287=)
c.787+5455T>C (n.787+5455T>C)
c.3882T>C (p.Gly1294=)
8g.54627743T>GCA461099756RP1c.3861T>G (p.Gly1287=)
c.787+5455T>G (n.787+5455T>G)
c.3882T>G (p.Gly1294=)
 gnomAD v4
8g.54627744G>ACA370997437RP1c.3862G>A (p.Val1288Met)
c.787+5456G>A (n.787+5456G>A)
c.3883G>A (p.Val1295Met)
8g.54627744G>CCA370997438RP1c.3862G>C (p.Val1288Leu)
c.787+5456G>C (n.787+5456G>C)
c.3883G>C (p.Val1295Leu)
8g.54627744G=CA1785188875RP1c.3862G= (p.Val1288=)
c.787+5456G= (n.787+5456G=)
c.3883G= (p.Val1295=)
8g.54627744G>TCA370997439RP1c.3862G>T (p.Val1288Leu)
c.787+5456G>T (n.787+5456G>T)
c.3883G>T (p.Val1295Leu)
 dbSNP
8g.54627745T>ACA370997440RP1c.3863T>A (p.Val1288Glu)
c.787+5457T>A (n.787+5457T>A)
c.3884T>A (p.Val1295Glu)
8g.54627745T>CCA370997441RP1c.3863T>C (p.Val1288Ala)
c.787+5457T>C (n.787+5457T>C)
c.3884T>C (p.Val1295Ala)
8g.54627745T>GCA370997442RP1c.3863T>G (p.Val1288Gly)
c.787+5457T>G (n.787+5457T>G)
c.3884T>G (p.Val1295Gly)
8g.54627746G>ACA461099757RP1c.3864G>A (p.Val1288=)
c.787+5458G>A (n.787+5458G>A)
c.3885G>A (p.Val1295=)
8g.54627746G>CCA461099760RP1c.3864G>C (p.Val1288=)
c.787+5458G>C (n.787+5458G>C)
c.3885G>C (p.Val1295=)
8g.54627746G>TCA461099758RP1c.3864G>T (p.Val1288=)
c.787+5458G>T (n.787+5458G>T)
c.3885G>T (p.Val1295=)
8g.54627747G>ACA370997444RP1c.3865G>A (p.Asp1289Asn)
c.787+5459G>A (n.787+5459G>A)
c.3886G>A (p.Asp1296Asn)
 COSMIC
8g.54627747G>CCA177237795RP1c.3865G>C (p.Asp1289His)
c.787+5459G>C (n.787+5459G>C)
c.3886G>C (p.Asp1296His)
 dbSNP
8g.54627747G=CA1785188876RP1c.3865G= (p.Asp1289=)
c.787+5459G= (n.787+5459G=)
c.3886G= (p.Asp1296=)
8g.54627747G>TCA370997443RP1c.3865G>T (p.Asp1289Tyr)
c.787+5459G>T (n.787+5459G>T)
c.3886G>T (p.Asp1296Tyr)
 gnomAD v4
8g.54627748A>CCA370997445RP1c.3866A>C (p.Asp1289Ala)
c.787+5460A>C (n.787+5460A>C)
c.3887A>C (p.Asp1296Ala)
8g.54627748A>GCA370997446RP1c.3866A>G (p.Asp1289Gly)
c.787+5460A>G (n.787+5460A>G)
c.3887A>G (p.Asp1296Gly)
8g.54627748A>TCA370997447RP1c.3866A>T (p.Asp1289Val)
c.787+5460A>T (n.787+5460A>T)
c.3887A>T (p.Asp1296Val)
8g.54627749T>ACA370997448RP1c.3867T>A (p.Asp1289Glu)
c.787+5461T>A (n.787+5461T>A)
c.3888T>A (p.Asp1296Glu)
8g.54627749T>CCA461099762RP1c.3867T>C (p.Asp1289=)
c.787+5461T>C (n.787+5461T>C)
c.3888T>C (p.Asp1296=)
8g.54627749T>GCA370997449RP1c.3867T>G (p.Asp1289Glu)
c.787+5461T>G (n.787+5461T>G)
c.3888T>G (p.Asp1296Glu)
8g.54627750C>ACA370997450RP1c.3868C>A (p.Gln1290Lys)
c.787+5462C>A (n.787+5462C>A)
c.3889C>A (p.Gln1297Lys)
 gnomAD v4
8g.54627750C>GCA370997451RP1c.3868C>G (p.Gln1290Glu)
c.787+5462C>G (n.787+5462C>G)
c.3889C>G (p.Gln1297Glu)
8g.54627750C>TCA370997452RP1c.3868C>T (p.Gln1290Ter)
c.787+5462C>T (n.787+5462C>T)
c.3889C>T (p.Gln1297Ter)
 COSMIC
8g.54627751A>CCA370997453RP1c.3869A>C (p.Gln1290Pro)
c.787+5463A>C (n.787+5463A>C)
c.3890A>C (p.Gln1297Pro)
8g.54627751A>GCA370997454RP1c.3869A>G (p.Gln1290Arg)
c.787+5463A>G (n.787+5463A>G)
c.3890A>G (p.Gln1297Arg)
 gnomAD v4
8g.54627751A>TCA370997455RP1c.3869A>T (p.Gln1290Leu)
c.787+5463A>T (n.787+5463A>T)
c.3890A>T (p.Gln1297Leu)
8g.54627752G>ACA461099766RP1c.3870G>A (p.Gln1290=)
c.787+5464G>A (n.787+5464G>A)
c.3891G>A (p.Gln1297=)
 COSMIC
8g.54627752G>CCA370997456RP1c.3870G>C (p.Gln1290His)
c.787+5464G>C (n.787+5464G>C)
c.3891G>C (p.Gln1297His)
8g.54627752G=CA1785188877RP1c.3870G= (p.Gln1290=)
c.787+5464G= (n.787+5464G=)
c.3891G= (p.Gln1297=)
8g.54627752G>TCA10627986RP1c.3870G>T (p.Gln1290His)
c.787+5464G>T (n.787+5464G>T)
c.3891G>T (p.Gln1297His)
 ClinVar dbSNP gnomAD v4
8g.54627753A>CCA370997457RP1c.3871A>C (p.Thr1291Pro)
c.787+5465A>C (n.787+5465A>C)
c.3892A>C (p.Thr1298Pro)
8g.54627753A>GCA370997458RP1c.3871A>G (p.Thr1291Ala)
c.787+5465A>G (n.787+5465A>G)
c.3892A>G (p.Thr1298Ala)
8g.54627753A>TCA370997459RP1c.3871A>T (p.Thr1291Ser)
c.787+5465A>T (n.787+5465A>T)
c.3892A>T (p.Thr1298Ser)
8g.54627754C>ACA370997460RP1c.3872C>A (p.Thr1291Asn)
c.787+5466C>A (n.787+5466C>A)
c.3893C>A (p.Thr1298Asn)
8g.54627754C>GCA370997461RP1c.3872C>G (p.Thr1291Ser)
c.787+5466C>G (n.787+5466C>G)
c.3893C>G (p.Thr1298Ser)
8g.54627754C>TCA370997462RP1c.3872C>T (p.Thr1291Ile)
c.787+5466C>T (n.787+5466C>T)
c.3893C>T (p.Thr1298Ile)
8g.54627755T>ACA461099769RP1c.3873T>A (p.Thr1291=)
c.787+5467T>A (n.787+5467T>A)
c.3894T>A (p.Thr1298=)
 gnomAD v4
8g.54627755T>CCA461099771RP1c.3873T>C (p.Thr1291=)
c.787+5467T>C (n.787+5467T>C)
c.3894T>C (p.Thr1298=)
8g.54627755T>GCA461099772RP1c.3873T>G (p.Thr1291=)
c.787+5467T>G (n.787+5467T>G)
c.3894T>G (p.Thr1298=)
8g.54627756T>ACA370997463RP1c.3874T>A (p.Ser1292Thr)
c.787+5468T>A (n.787+5468T>A)
c.3895T>A (p.Ser1299Thr)
8g.54627756T>CCA4751760RP1c.3874T>C (p.Ser1292Pro)
c.787+5468T>C (n.787+5468T>C)
c.3895T>C (p.Ser1299Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54627756T>GCA370997464RP1c.3874T>G (p.Ser1292Ala)
c.787+5468T>G (n.787+5468T>G)
c.3895T>G (p.Ser1299Ala)
8g.54627756T=CA1785188878RP1c.3874T= (p.Ser1292=)
c.787+5468T= (n.787+5468T=)
c.3895T= (p.Ser1299=)
8g.54627757C>ACA370997465RP1c.3875C>A (p.Ser1292Tyr)
c.787+5469C>A (n.787+5469C>A)
c.3896C>A (p.Ser1299Tyr)
 gnomAD v4
8g.54627757C=CA1785188879RP1c.3875C= (p.Ser1292=)
c.787+5469C= (n.787+5469C=)
c.3896C= (p.Ser1299=)
8g.54627757C>GCA370997466RP1c.3875C>G (p.Ser1292Cys)
c.787+5469C>G (n.787+5469C>G)
c.3896C>G (p.Ser1299Cys)
 dbSNP gnomAD v3 gnomAD v4
8g.54627757C>TCA370997467RP1c.3875C>T (p.Ser1292Phe)
c.787+5469C>T (n.787+5469C>T)
c.3896C>T (p.Ser1299Phe)
8g.54627758T>ACA461099774RP1c.3876T>A (p.Ser1292=)
c.787+5470T>A (n.787+5470T>A)
c.3897T>A (p.Ser1299=)
8g.54627758T>CCA461099775RP1c.3876T>C (p.Ser1292=)
c.787+5470T>C (n.787+5470T>C)
c.3897T>C (p.Ser1299=)
8g.54627758T>GCA461099776RP1c.3876T>G (p.Ser1292=)
c.787+5470T>G (n.787+5470T>G)
c.3897T>G (p.Ser1299=)
8g.54627759A=CA1785188880RP1c.3877A= (p.Met1293=)
c.787+5471A= (n.787+5471A=)
c.3898A= (p.Met1300=)
8g.54627759A>CCA370997469RP1c.3877A>C (p.Met1293Leu)
c.787+5471A>C (n.787+5471A>C)
c.3898A>C (p.Met1300Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.54627759A>GCA370997470RP1c.3877A>G (p.Met1293Val)
c.787+5471A>G (n.787+5471A>G)
c.3898A>G (p.Met1300Val)
 gnomAD v4
8g.54627759A>TCA370997468RP1c.3877A>T (p.Met1293Leu)
c.787+5471A>T (n.787+5471A>T)
c.3898A>T (p.Met1300Leu)
8g.54627760T>ACA370997471RP1c.3878T>A (p.Met1293Lys)
c.787+5472T>A (n.787+5472T>A)
c.3899T>A (p.Met1300Lys)
8g.54627760T>CCA370997472RP1c.3878T>C (p.Met1293Thr)
c.787+5472T>C (n.787+5472T>C)
c.3899T>C (p.Met1300Thr)
 gnomAD v4
8g.54627760T>GCA370997473RP1c.3878T>G (p.Met1293Arg)
c.787+5472T>G (n.787+5472T>G)
c.3899T>G (p.Met1300Arg)
8g.54627761G>ACA370997474RP1c.3879G>A (p.Met1293Ile)
c.787+5473G>A (n.787+5473G>A)
c.3900G>A (p.Met1300Ile)
 COSMIC
8g.54627761G>CCA370997475RP1c.3879G>C (p.Met1293Ile)
c.787+5473G>C (n.787+5473G>C)
c.3900G>C (p.Met1300Ile)
8g.54627761G>TCA370997476RP1c.3879G>T (p.Met1293Ile)
c.787+5473G>T (n.787+5473G>T)
c.3900G>T (p.Met1300Ile)
8g.54627762A>CCA370997477RP1c.3880A>C (p.Asn1294His)
c.787+5474A>C (n.787+5474A>C)
c.3901A>C (p.Asn1301His)
8g.54627762A>GCA370997479RP1c.3880A>G (p.Asn1294Asp)
c.787+5474A>G (n.787+5474A>G)
c.3901A>G (p.Asn1301Asp)
8g.54627762A>TCA370997478RP1c.3880A>T (p.Asn1294Tyr)
c.787+5474A>T (n.787+5474A>T)
c.3901A>T (p.Asn1301Tyr)
 gnomAD v4
8g.54627763A=CA1785188881RP1c.3881A= (p.Asn1294=)
c.787+5475A= (n.787+5475A=)
c.3902A= (p.Asn1301=)
8g.54627763A>CCA4751761RP1c.3881A>C (p.Asn1294Thr)
c.787+5475A>C (n.787+5475A>C)
c.3902A>C (p.Asn1301Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627763A>GCA4751762RP1c.3881A>G (p.Asn1294Ser)
c.787+5475A>G (n.787+5475A>G)
c.3902A>G (p.Asn1301Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627763A>TCA370997480RP1c.3881A>T (p.Asn1294Ile)
c.787+5475A>T (n.787+5475A>T)
c.3902A>T (p.Asn1301Ile)
8g.54627764T>ACA370997481RP1c.3882T>A (p.Asn1294Lys)
c.787+5476T>A (n.787+5476T>A)
c.3903T>A (p.Asn1301Lys)
8g.54627764T>CCA461099786RP1c.3882T>C (p.Asn1294=)
c.787+5476T>C (n.787+5476T>C)
c.3903T>C (p.Asn1301=)
8g.54627764T>GCA370997482RP1c.3882T>G (p.Asn1294Lys)
c.787+5476T>G (n.787+5476T>G)
c.3903T>G (p.Asn1301Lys)
 dbSNP
8g.54627765_54627775delCA645560580RP1c.3883_3893del (p.Lys1295ProfsTer9)
c.787+5477_787+5487del (n.787+5477_787+5487del)
c.3904_3914del (p.Lys1302ProfsTer9)
 COSMIC
8g.54627765A>CCA370997484RP1c.3883A>C (p.Lys1295Gln)
c.787+5477A>C (n.787+5477A>C)
c.3904A>C (p.Lys1302Gln)
8g.54627765A>GCA370997485RP1c.3883A>G (p.Lys1295Glu)
c.787+5477A>G (n.787+5477A>G)
c.3904A>G (p.Lys1302Glu)
8g.54627765A>TCA370997483RP1c.3883A>T (p.Lys1295Ter)
c.787+5477A>T (n.787+5477A>T)
c.3904A>T (p.Lys1302Ter)
8g.54627766A>CCA370997487RP1c.3884A>C (p.Lys1295Thr)
c.787+5478A>C (n.787+5478A>C)
c.3905A>C (p.Lys1302Thr)
8g.54627766A>GCA370997486RP1c.3884A>G (p.Lys1295Arg)
c.787+5478A>G (n.787+5478A>G)
c.3905A>G (p.Lys1302Arg)
8g.54627766A>TCA370997488RP1c.3884A>T (p.Lys1295Met)
c.787+5478A>T (n.787+5478A>T)
c.3905A>T (p.Lys1302Met)
 ClinVar
8g.54627767G>ACA461099790RP1c.3885G>A (p.Lys1295=)
c.787+5479G>A (n.787+5479G>A)
c.3906G>A (p.Lys1302=)
8g.54627767G>CCA370997489RP1c.3885G>C (p.Lys1295Asn)
c.787+5479G>C (n.787+5479G>C)
c.3906G>C (p.Lys1302Asn)
8g.54627767G>TCA370997490RP1c.3885G>T (p.Lys1295Asn)
c.787+5479G>T (n.787+5479G>T)
c.3906G>T (p.Lys1302Asn)
8g.54627768G>ACA370997491RP1c.3886G>A (p.Ala1296Thr)
c.787+5480G>A (n.787+5480G>A)
c.3907G>A (p.Ala1303Thr)
8g.54627768G>CCA370997492RP1c.3886G>C (p.Ala1296Pro)
c.787+5480G>C (n.787+5480G>C)
c.3907G>C (p.Ala1303Pro)
8g.54627768G>TCA370997493RP1c.3886G>T (p.Ala1296Ser)
c.787+5480G>T (n.787+5480G>T)
c.3907G>T (p.Ala1303Ser)
8g.54627769C>ACA370997494RP1c.3887C>A (p.Ala1296Asp)
c.787+5481C>A (n.787+5481C>A)
c.3908C>A (p.Ala1303Asp)
8g.54627769C=CA1785188882RP1c.3887C= (p.Ala1296=)
c.787+5481C= (n.787+5481C=)
c.3908C= (p.Ala1303=)
8g.54627769C>GCA370997495RP1c.3887C>G (p.Ala1296Gly)
c.787+5481C>G (n.787+5481C>G)
c.3908C>G (p.Ala1303Gly)
 dbSNP
8g.54627769C>TCA370997496RP1c.3887C>T (p.Ala1296Val)
c.787+5481C>T (n.787+5481C>T)
c.3908C>T (p.Ala1303Val)
8g.54627770T>ACA461099796RP1c.3888T>A (p.Ala1296=)
c.787+5482T>A (n.787+5482T>A)
c.3909T>A (p.Ala1303=)
8g.54627770T>CCA461099797RP1c.3888T>C (p.Ala1296=)
c.787+5482T>C (n.787+5482T>C)
c.3909T>C (p.Ala1303=)
 gnomAD v4
8g.54627770T>GCA461099798RP1c.3888T>G (p.Ala1296=)
c.787+5482T>G (n.787+5482T>G)
c.3909T>G (p.Ala1303=)
8g.54627771T>ACA370997497RP1c.3889T>A (p.Cys1297Ser)
c.787+5483T>A (n.787+5483T>A)
c.3910T>A (p.Cys1304Ser)
8g.54627771T>CCA370997498RP1c.3889T>C (p.Cys1297Arg)
c.787+5483T>C (n.787+5483T>C)
c.3910T>C (p.Cys1304Arg)
8g.54627771T>GCA370997499RP1c.3889T>G (p.Cys1297Gly)
c.787+5483T>G (n.787+5483T>G)
c.3910T>G (p.Cys1304Gly)
8g.54627772G>ACA4751763RP1c.3890G>A (p.Cys1297Tyr)
c.787+5484G>A (n.787+5484G>A)
c.3911G>A (p.Cys1304Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627772G>CCA370980655RP1c.3890G>C (p.Cys1297Ser)
c.787+5484G>C (n.787+5484G>C)
c.3911G>C (p.Cys1304Ser)
 gnomAD v4
8g.54627772G=CA1785188883RP1c.3890G= (p.Cys1297=)
c.787+5484G= (n.787+5484G=)
c.3911G= (p.Cys1304=)
8g.54627772G>TCA370980654RP1c.3890G>T (p.Cys1297Phe)
c.787+5484G>T (n.787+5484G>T)
c.3911G>T (p.Cys1304Phe)
8g.54627772_54627773delinsGTCA1785188884RP1c.3890_3891delinsGT (p.Cys1297=)
c.787+5484_787+5485delinsGT (n.787+5484_787+5485delinsGT)
c.3911_3912delinsGT (p.Cys1304=)
8g.54627773T>ACA370980656RP1c.3891T>A (p.Cys1297Ter)
c.787+5485T>A (n.787+5485T>A)
c.3912T>A (p.Cys1304Ter)
8g.54627773T>CCA461099344RP1c.3891T>C (p.Cys1297=)
c.787+5485T>C (n.787+5485T>C)
c.3912T>C (p.Cys1304=)
 dbSNP
8g.54627773T>GCA370980657RP1c.3891T>G (p.Cys1297Trp)
c.787+5485T>G (n.787+5485T>G)
c.3912T>G (p.Cys1304Trp)
8g.54627775delCA582096941RP1c.3893del (p.Phe1298SerfsTer2)
c.787+5487del (n.787+5487del)
c.3914del (p.Phe1305SerfsTer2)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54627774T>ACA370980658RP1c.3892T>A (p.Phe1298Ile)
c.787+5486T>A (n.787+5486T>A)
c.3913T>A (p.Phe1305Ile)
8g.54627774T>CCA370980659RP1c.3892T>C (p.Phe1298Leu)
c.787+5486T>C (n.787+5486T>C)
c.3913T>C (p.Phe1305Leu)
8g.54627774T>GCA370980660RP1c.3892T>G (p.Phe1298Val)
c.787+5486T>G (n.787+5486T>G)
c.3913T>G (p.Phe1305Val)
8g.54627775T>ACA370980661RP1c.3893T>A (p.Phe1298Tyr)
c.787+5487T>A (n.787+5487T>A)
c.3914T>A (p.Phe1305Tyr)
8g.54627775T>CCA370980662RP1c.3893T>C (p.Phe1298Ser)
c.787+5487T>C (n.787+5487T>C)
c.3914T>C (p.Phe1305Ser)
8g.54627775T>GCA370980663RP1c.3893T>G (p.Phe1298Cys)
c.787+5487T>G (n.787+5487T>G)
c.3914T>G (p.Phe1305Cys)
8g.54627776C>ACA370980664RP1c.3894C>A (p.Phe1298Leu)
c.787+5488C>A (n.787+5488C>A)
c.3915C>A (p.Phe1305Leu)
8g.54627776C>GCA370980665RP1c.3894C>G (p.Phe1298Leu)
c.787+5488C>G (n.787+5488C>G)
c.3915C>G (p.Phe1305Leu)
8g.54627776C>TCA461099363RP1c.3894C>T (p.Phe1298=)
c.787+5488C>T (n.787+5488C>T)
c.3915C>T (p.Phe1305=)
 COSMIC
8g.54627777C>ACA370980666RP1c.3895C>A (p.Leu1299Ile)
c.787+5489C>A (n.787+5489C>A)
c.3916C>A (p.Leu1306Ile)
8g.54627777C>GCA370980667RP1c.3895C>G (p.Leu1299Val)
c.787+5489C>G (n.787+5489C>G)
c.3916C>G (p.Leu1306Val)
8g.54627777C>TCA461099365RP1c.3895C>T (p.Leu1299=)
c.787+5489C>T (n.787+5489C>T)
c.3916C>T (p.Leu1306=)
8g.54627778T>ACA370980669RP1c.3896T>A (p.Leu1299Gln)
c.787+5490T>A (n.787+5490T>A)
c.3917T>A (p.Leu1306Gln)
8g.54627778T>CCA370980670RP1c.3896T>C (p.Leu1299Pro)
c.787+5490T>C (n.787+5490T>C)
c.3917T>C (p.Leu1306Pro)
 gnomAD v4
8g.54627778T>GCA370980668RP1c.3896T>G (p.Leu1299Arg)
c.787+5490T>G (n.787+5490T>G)
c.3917T>G (p.Leu1306Arg)
8g.54627779A=CA1785188885RP1c.3897A= (p.Leu1299=)
c.787+5491A= (n.787+5491A=)
c.3918A= (p.Leu1306=)
8g.54627779A>CCA461099366RP1c.3897A>C (p.Leu1299=)
c.787+5491A>C (n.787+5491A>C)
c.3918A>C (p.Leu1306=)
8g.54627779A>GCA4751764RP1c.3897A>G (p.Leu1299=)
c.787+5491A>G (n.787+5491A>G)
c.3918A>G (p.Leu1306=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627779A>TCA461099368RP1c.3897A>T (p.Leu1299=)
c.787+5491A>T (n.787+5491A>T)
c.3918A>T (p.Leu1306=)
8g.54627780G>ACA370980671RP1c.3898G>A (p.Gly1300Arg)
c.787+5492G>A (n.787+5492G>A)
c.3919G>A (p.Gly1307Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.54627780G>CCA370980672RP1c.3898G>C (p.Gly1300Arg)
c.787+5492G>C (n.787+5492G>C)
c.3919G>C (p.Gly1307Arg)
8g.54627780G=CA1785188886RP1c.3898G= (p.Gly1300=)
c.787+5492G= (n.787+5492G=)
c.3919G= (p.Gly1307=)
8g.54627780G>TCA370980673RP1c.3898G>T (p.Gly1300Ter)
c.787+5492G>T (n.787+5492G>T)
c.3919G>T (p.Gly1307Ter)
8g.54627781G>ACA370980674RP1c.3899G>A (p.Gly1300Glu)
c.787+5493G>A (n.787+5493G>A)
c.3920G>A (p.Gly1307Glu)
 gnomAD v4
8g.54627781G>CCA370980675RP1c.3899G>C (p.Gly1300Ala)
c.787+5493G>C (n.787+5493G>C)
c.3920G>C (p.Gly1307Ala)
8g.54627781G>TCA370980676RP1c.3899G>T (p.Gly1300Val)
c.787+5493G>T (n.787+5493G>T)
c.3920G>T (p.Gly1307Val)
8g.54627782A>CCA461099380RP1c.3900A>C (p.Gly1300=)
c.787+5494A>C (n.787+5494A>C)
c.3921A>C (p.Gly1307=)
8g.54627782A>GCA461099379RP1c.3900A>G (p.Gly1300=)
c.787+5494A>G (n.787+5494A>G)
c.3921A>G (p.Gly1307=)
8g.54627782A>TCA461099378RP1c.3900A>T (p.Gly1300=)
c.787+5494A>T (n.787+5494A>T)
c.3921A>T (p.Gly1307=)
8g.54627783G>ACA370980677RP1c.3901G>A (p.Glu1301Lys)
c.787+5495G>A (n.787+5495G>A)
c.3922G>A (p.Glu1308Lys)
8g.54627783G>CCA370980678RP1c.3901G>C (p.Glu1301Gln)
c.787+5495G>C (n.787+5495G>C)
c.3922G>C (p.Glu1308Gln)
8g.54627783G>TCA370980679RP1c.3901G>T (p.Glu1301Ter)
c.787+5495G>T (n.787+5495G>T)
c.3922G>T (p.Glu1308Ter)
8g.54627784A=CA1785188887RP1c.3902A= (p.Glu1301=)
c.787+5496A= (n.787+5496A=)
c.3923A= (p.Glu1308=)
8g.54627784A>CCA370980680RP1c.3902A>C (p.Glu1301Ala)
c.787+5496A>C (n.787+5496A>C)
c.3923A>C (p.Glu1308Ala)
8g.54627784A>GCA4751765RP1c.3902A>G (p.Glu1301Gly)
c.787+5496A>G (n.787+5496A>G)
c.3923A>G (p.Glu1308Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54627784A>TCA370980681RP1c.3902A>T (p.Glu1301Val)
c.787+5496A>T (n.787+5496A>T)
c.3923A>T (p.Glu1308Val)
8g.54627785G>ACA461099390RP1c.3903G>A (p.Glu1301=)
c.787+5497G>A (n.787+5497G>A)
c.3924G>A (p.Glu1308=)
 COSMIC
8g.54627785G>CCA370980683RP1c.3903G>C (p.Glu1301Asp)
c.787+5497G>C (n.787+5497G>C)
c.3924G>C (p.Glu1308Asp)
8g.54627785G>TCA370980682RP1c.3903G>T (p.Glu1301Asp)
c.787+5497G>T (n.787+5497G>T)
c.3924G>T (p.Glu1308Asp)
8g.54627786G>ACA370980684RP1c.3904G>A (p.Val1302Ile)
c.787+5498G>A (n.787+5498G>A)
c.3925G>A (p.Val1309Ile)
 dbSNP
8g.54627786G>CCA370980685RP1c.3904G>C (p.Val1302Leu)
c.787+5498G>C (n.787+5498G>C)
c.3925G>C (p.Val1309Leu)
8g.54627786G>TCA370980686RP1c.3904G>T (p.Val1302Phe)
c.787+5498G>T (n.787+5498G>T)
c.3925G>T (p.Val1309Phe)
 gnomAD v4
8g.54627787T>ACA370980687RP1c.3905T>A (p.Val1302Asp)
c.787+5499T>A (n.787+5499T>A)
c.3926T>A (p.Val1309Asp)
8g.54627787T>CCA370980688RP1c.3905T>C (p.Val1302Ala)
c.787+5499T>C (n.787+5499T>C)
c.3926T>C (p.Val1309Ala)
8g.54627787T>GCA370980689RP1c.3905T>G (p.Val1302Gly)
c.787+5499T>G (n.787+5499T>G)
c.3926T>G (p.Val1309Gly)
8g.54627788C>ACA461099398RP1c.3906C>A (p.Val1302=)
c.787+5500C>A (n.787+5500C>A)
c.3927C>A (p.Val1309=)
8g.54627788C>GCA461099400RP1c.3906C>G (p.Val1302=)
c.787+5500C>G (n.787+5500C>G)
c.3927C>G (p.Val1309=)
 COSMIC
8g.54627788C>TCA461099399RP1c.3906C>T (p.Val1302=)
c.787+5500C>T (n.787+5500C>T)
c.3927C>T (p.Val1309=)
 COSMIC
8g.54627789T>ACA370980692RP1c.3907T>A (p.Cys1303Ser)
c.787+5501T>A (n.787+5501T>A)
c.3928T>A (p.Cys1310Ser)
8g.54627789T>CCA370980690RP1c.3907T>C (p.Cys1303Arg)
c.787+5501T>C (n.787+5501T>C)
c.3928T>C (p.Cys1310Arg)
 dbSNP
8g.54627789T>GCA370980691RP1c.3907T>G (p.Cys1303Gly)
c.787+5501T>G (n.787+5501T>G)
c.3928T>G (p.Cys1310Gly)
8g.54627789T=CA1785188888RP1c.3907T= (p.Cys1303=)
c.787+5501T= (n.787+5501T=)
c.3928T= (p.Cys1310=)
8g.54627790G>ACA370980693RP1c.3908G>A (p.Cys1303Tyr)
c.787+5502G>A (n.787+5502G>A)
c.3929G>A (p.Cys1310Tyr)
8g.54627790G>CCA370980694RP1c.3908G>C (p.Cys1303Ser)
c.787+5502G>C (n.787+5502G>C)
c.3929G>C (p.Cys1310Ser)
8g.54627790G>TCA370980695RP1c.3908G>T (p.Cys1303Phe)
c.787+5502G>T (n.787+5502G>T)
c.3929G>T (p.Cys1310Phe)
8g.54627791T>ACA370980696RP1c.3909T>A (p.Cys1303Ter)
c.787+5503T>A (n.787+5503T>A)
c.3930T>A (p.Cys1310Ter)
8g.54627791T>CCA461099403RP1c.3909T>C (p.Cys1303=)
c.787+5503T>C (n.787+5503T>C)
c.3930T>C (p.Cys1310=)
8g.54627791T>GCA370980697RP1c.3909T>G (p.Cys1303Trp)
c.787+5503T>G (n.787+5503T>G)
c.3930T>G (p.Cys1310Trp)
8g.54627792T>ACA370980700RP1c.3910T>A (p.Ser1304Thr)
c.787+5504T>A (n.787+5504T>A)
c.3931T>A (p.Ser1311Thr)
8g.54627792T>CCA370980699RP1c.3910T>C (p.Ser1304Pro)
c.787+5504T>C (n.787+5504T>C)
c.3931T>C (p.Ser1311Pro)
8g.54627792T>GCA370980698RP1c.3910T>G (p.Ser1304Ala)
c.787+5504T>G (n.787+5504T>G)
c.3931T>G (p.Ser1311Ala)
8g.54627793C>ACA370980701RP1c.3911C>A (p.Ser1304Ter)
c.787+5505C>A (n.787+5505C>A)
c.3932C>A (p.Ser1311Ter)
8g.54627793C>GCA370980702RP1c.3911C>G (p.Ser1304Ter)
c.787+5505C>G (n.787+5505C>G)
c.3932C>G (p.Ser1311Ter)
8g.54627793C>TCA370980703RP1c.3911C>T (p.Ser1304Leu)
c.787+5505C>T (n.787+5505C>T)
c.3932C>T (p.Ser1311Leu)

Number of alleles fetched