Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18596614_18596624delinsGTGCTCACCACCA2326432215CRLF1c.1022_1024+8delinsGTGGTGAGCAC
c.447+40_447+50delinsGTGGTGAGCAC
c.956_958+8delinsGTGGTGAGCAC
19g.18596618_18596627delCA2326432216CRLF1c.1022_1024+7del
c.447+40_447+49del
c.956_958+7del
 dbSNP gnomAD v4
19g.18596618_18596621dupCA9314032CRLF1c.1024+2_1024+5dup (n.1024+2_1024+5dup)
c.447+44_447+47dup
c.958+2_958+5dup (n.958+2_958+5dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596618_18596630delinsTCACCACTGCGGGCA2326432218CRLF1c.1016_1024+4delinsCCCGCAGTGGTGA
c.447+34_447+46delinsCCCGCAGTGGTGA
c.950_958+4delinsCCCGCAGTGGTGA
19g.18596619_18596630delCA2326432219CRLF1c.1016_1024+3del
c.447+34_447+45del
c.950_958+3del
 dbSNP gnomAD v4
19g.18596620A>CCA404850412CRLF1c.1024+2T>G (n.1024+2T>G)
c.447+44T>G
c.958+2T>G (n.958+2T>G)
19g.18596620A>GCA404850413CRLF1c.1024+2T>C (n.1024+2T>C)
c.447+44T>C
c.958+2T>C (n.958+2T>C)
19g.18596620A>TCA404850414CRLF1c.1024+2T>A (n.1024+2T>A)
c.447+44T>A
c.958+2T>A (n.958+2T>A)
19g.18596620_18596621delinsACCA2326432220CRLF1c.1024+1_1024+2delinsGT (n.1024+1_1024+2delinsGT)
c.447+43_447+44delinsGT
c.958+1_958+2delinsGT (n.958+1_958+2delinsGT)
19g.18596621C>ACA404850415CRLF1c.1024+1G>T (n.1024+1G>T)
c.447+43G>T
c.958+1G>T (n.958+1G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18596621C=CA2326432221CRLF1c.1024+1G= (n.1024+1G=)
c.447+43G=
c.958+1G= (n.958+1G=)
19g.18596621C>GCA404850416CRLF1c.1024+1G>C (n.1024+1G>C)
c.447+43G>C
c.958+1G>C (n.958+1G>C)
19g.18596621C>TCA404850417CRLF1c.1024+1G>A (n.1024+1G>A)
c.447+43G>A
c.958+1G>A (n.958+1G>A)
 gnomAD v4
19g.18596622delCA9314033CRLF1c.1024+1del
c.447+43del
c.958+1del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596622C>ACA404850418CRLF1c.1024G>T (p.Glu342Ter)
c.447+42G>T
c.958G>T (p.Glu320Ter)
19g.18596622C>GCA404850419CRLF1c.1024G>C (p.Glu342Gln)
c.447+42G>C
c.958G>C (p.Glu320Gln)
19g.18596622C>TCA404850420CRLF1c.1024G>A (p.Glu342Lys)
c.447+42G>A
c.958G>A (p.Glu320Lys)
19g.18596623A>CCA404850421CRLF1c.1023T>G (p.Ser341Arg)
c.447+41T>G
c.957T>G (p.Ser319Arg)
19g.18596623A>GCA506044235CRLF1c.1023T>C (p.Ser341=)
c.447+41T>C
c.957T>C (p.Ser319=)
19g.18596623A>TCA404850422CRLF1c.1023T>A (p.Ser341Arg)
c.447+41T>A
c.957T>A (p.Ser319Arg)
19g.18596624C>ACA404850423CRLF1c.1022G>T (p.Ser341Ile)
c.447+40G>T
c.956G>T (p.Ser319Ile)
19g.18596624C>GCA404850424CRLF1c.1022G>C (p.Ser341Thr)
c.447+40G>C
c.956G>C (p.Ser319Thr)
19g.18596624C>TCA404850425CRLF1c.1022G>A (p.Ser341Asn)
c.447+40G>A
c.956G>A (p.Ser319Asn)
 gnomAD v4
19g.18596625T>ACA404850426CRLF1c.1021A>T (p.Ser341Cys)
c.447+39A>T
c.955A>T (p.Ser319Cys)
19g.18596625T>CCA404850427CRLF1c.1021A>G (p.Ser341Gly)
c.447+39A>G
c.955A>G (p.Ser319Gly)
 dbSNP gnomAD v3 gnomAD v4
19g.18596625T>GCA404850428CRLF1c.1021A>C (p.Ser341Arg)
c.447+39A>C
c.955A>C (p.Ser319Arg)
19g.18596625T=CA2326432222CRLF1c.1021A= (p.Ser341=)
c.447+39A=
c.955A= (p.Ser319=)
19g.18596626G>ACA506044238CRLF1c.1020C>T (p.Arg340=)
c.447+38C>T
c.954C>T (p.Arg318=)
 dbSNP gnomAD v3 gnomAD v4
19g.18596626G>CCA306260261CRLF1c.1020C>G (p.Arg340=)
c.447+38C>G
c.954C>G (p.Arg318=)
 dbSNP
19g.18596626G=CA2326432223CRLF1c.1020C= (p.Arg340=)
c.447+38C=
c.954C= (p.Arg318=)
19g.18596626G>TCA506044240CRLF1c.1020C>A (p.Arg340=)
c.447+38C>A
c.954C>A (p.Arg318=)
 ClinVar COSMIC
19g.18596626_18596627delinsGCCA2326432224CRLF1c.1019_1020delinsGC (p.Arg340=)
c.447+37_447+38delinsGC
c.953_954delinsGC (p.Arg318=)
19g.18596627delCA783933229CRLF1c.1019del (p.Arg340ProfsTer?)
c.447+37del
c.953del (p.Arg318ProfsTer?)
 dbSNP
19g.18596627C>ACA404850429CRLF1c.1019G>T (p.Arg340Leu)
c.447+37G>T
c.953G>T (p.Arg318Leu)
19g.18596627C=CA2326432225CRLF1c.1019G= (p.Arg340=)
c.447+37G=
c.953G= (p.Arg318=)
19g.18596627C>GCA404850430CRLF1c.1019G>C (p.Arg340Pro)
c.447+37G>C
c.953G>C (p.Arg318Pro)
 gnomAD v4
19g.18596627C>TCA306260270CRLF1c.1019G>A (p.Arg340His)
c.447+37G>A
c.953G>A (p.Arg318His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18596628G>ACA9314034CRLF1c.1018C>T (p.Arg340Cys)
c.447+36C>T
c.952C>T (p.Arg318Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18596628G>CCA306260277CRLF1c.1018C>G (p.Arg340Gly)
c.447+36C>G
c.952C>G (p.Arg318Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.18596628G=CA2326432226CRLF1c.1018C= (p.Arg340=)
c.447+36C=
c.952C= (p.Arg318=)
19g.18596628G>TCA404850431CRLF1c.1018C>A (p.Arg340Ser)
c.447+36C>A
c.952C>A (p.Arg318Ser)
19g.18596631delCA2583603053CRLF1c.1018del (p.Arg340AlafsTer?)
c.447+36del
c.952del (p.Arg318AlafsTer?)
 gnomAD v4
19g.18596629G>ACA306260278CRLF1c.1017C>T (p.Pro339=)
c.447+35C>T
c.951C>T (p.Pro317=)
 dbSNP
19g.18596629G>CCA506044241CRLF1c.1017C>G (p.Pro339=)
c.447+35C>G
c.951C>G (p.Pro317=)
19g.18596629G=CA2326432227CRLF1c.1017C= (p.Pro339=)
c.447+35C=
c.951C= (p.Pro317=)
19g.18596629G>TCA506044242CRLF1c.1017C>A (p.Pro339=)
c.447+35C>A
c.951C>A (p.Pro317=)
19g.18596630G>ACA404850434CRLF1c.1016C>T (p.Pro339Leu)
c.447+34C>T
c.950C>T (p.Pro317Leu)
19g.18596630G>CCA404850432CRLF1c.1016C>G (p.Pro339Arg)
c.447+34C>G
c.950C>G (p.Pro317Arg)
19g.18596630G>TCA404850433CRLF1c.1016C>A (p.Pro339His)
c.447+34C>A
c.950C>A (p.Pro317His)
19g.18596631G>ACA404850435CRLF1c.1015C>T (p.Pro339Ser)
c.447+33C>T
c.949C>T (p.Pro317Ser)
 gnomAD v4
19g.18596631G>CCA404850436CRLF1c.1015C>G (p.Pro339Ala)
c.447+33C>G
c.949C>G (p.Pro317Ala)
19g.18596631G>TCA404850437CRLF1c.1015C>A (p.Pro339Thr)
c.447+33C>A
c.949C>A (p.Pro317Thr)
19g.18596632A=CA2326432228CRLF1c.1014T= (p.Thr338=)
c.447+32T=
c.948T= (p.Thr316=)
19g.18596632A>CCA306260279CRLF1c.1014T>G (p.Thr338=)
c.447+32T>G
c.948T>G (p.Thr316=)
 dbSNP gnomAD v2
19g.18596632A>GCA506044243CRLF1c.1014T>C (p.Thr338=)
c.447+32T>C
c.948T>C (p.Thr316=)
19g.18596632A>TCA506044244CRLF1c.1014T>A (p.Thr338=)
c.447+32T>A
c.948T>A (p.Thr316=)
19g.18596633G>ACA404850438CRLF1c.1013C>T (p.Thr338Ile)
c.447+31C>T
c.947C>T (p.Thr316Ile)
19g.18596633G>CCA404850439CRLF1c.1013C>G (p.Thr338Ser)
c.447+31C>G
c.947C>G (p.Thr316Ser)
19g.18596633G>TCA404850440CRLF1c.1013C>A (p.Thr338Asn)
c.447+31C>A
c.947C>A (p.Thr316Asn)
19g.18596634T>ACA404850441CRLF1c.1012A>T (p.Thr338Ser)
c.447+30A>T
c.946A>T (p.Thr316Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.18596634T>CCA404850442CRLF1c.1012A>G (p.Thr338Ala)
c.447+30A>G
c.946A>G (p.Thr316Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.18596634T>GCA404850443CRLF1c.1012A>C (p.Thr338Pro)
c.447+30A>C
c.946A>C (p.Thr316Pro)
19g.18596634T=CA2326432229CRLF1c.1012A= (p.Thr338=)
c.447+30A=
c.946A= (p.Thr316=)
19g.18596635G>ACA9314035CRLF1c.1011C>T (p.Ser337=)
c.447+29C>T
c.945C>T (p.Ser315=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596635G>CCA506044246CRLF1c.1011C>G (p.Ser337=)
c.447+29C>G
c.945C>G (p.Ser315=)
19g.18596635G=CA2326432230CRLF1c.1011C= (p.Ser337=)
c.447+29C=
c.945C= (p.Ser315=)
19g.18596635G>TCA506044245CRLF1c.1011C>A (p.Ser337=)
c.447+29C>A
c.945C>A (p.Ser315=)
19g.18596636G>ACA404850444CRLF1c.1010C>T (p.Ser337Phe)
c.447+28C>T
c.944C>T (p.Ser315Phe)
 dbSNP
19g.18596636G>CCA404850445CRLF1c.1010C>G (p.Ser337Cys)
c.447+28C>G
c.944C>G (p.Ser315Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18596636G=CA2326432231CRLF1c.1010C= (p.Ser337=)
c.447+28C=
c.944C= (p.Ser315=)
19g.18596636G>TCA404850446CRLF1c.1010C>A (p.Ser337Tyr)
c.447+28C>A
c.944C>A (p.Ser315Tyr)
19g.18596637A>CCA404850449CRLF1c.1009T>G (p.Ser337Ala)
c.447+27T>G
c.943T>G (p.Ser315Ala)
19g.18596637A>GCA404850447CRLF1c.1009T>C (p.Ser337Pro)
c.447+27T>C
c.943T>C (p.Ser315Pro)
19g.18596637A>TCA404850448CRLF1c.1009T>A (p.Ser337Thr)
c.447+27T>A
c.943T>A (p.Ser315Thr)
19g.18596638G>ACA506044252CRLF1c.1008C>T (p.Ala336=)
c.447+26C>T
c.942C>T (p.Ala314=)
 dbSNP gnomAD v3 gnomAD v4
19g.18596638G>CCA506044249CRLF1c.1008C>G (p.Ala336=)
c.447+26C>G
c.942C>G (p.Ala314=)
19g.18596638G>TCA506044250CRLF1c.1008C>A (p.Ala336=)
c.447+26C>A
c.942C>A (p.Ala314=)
19g.18596639G>ACA404850450CRLF1c.1007C>T (p.Ala336Val)
c.447+25C>T
c.941C>T (p.Ala314Val)
19g.18596639G>CCA404850451CRLF1c.1007C>G (p.Ala336Gly)
c.447+25C>G
c.941C>G (p.Ala314Gly)
19g.18596639G>TCA404850452CRLF1c.1007C>A (p.Ala336Asp)
c.447+25C>A
c.941C>A (p.Ala314Asp)
19g.18596640C>ACA404850453CRLF1c.1006G>T (p.Ala336Ser)
c.447+24G>T
c.940G>T (p.Ala314Ser)
19g.18596640C=CA2326432232CRLF1c.1006G= (p.Ala336=)
c.447+24G=
c.940G= (p.Ala314=)
19g.18596640C>GCA404850454CRLF1c.1006G>C (p.Ala336Pro)
c.447+24G>C
c.940G>C (p.Ala314Pro)
19g.18596640C>TCA9314036CRLF1c.1006G>A (p.Ala336Thr)
c.447+24G>A
c.940G>A (p.Ala314Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596641G>ACA306260287CRLF1c.1005C>T (p.Ala335=)
c.447+23C>T
c.939C>T (p.Ala313=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18596641G>CCA506044253CRLF1c.1005C>G (p.Ala335=)
c.447+23C>G
c.939C>G (p.Ala313=)
 dbSNP gnomAD v2 gnomAD v4
19g.18596641G=CA2326432233CRLF1c.1005C= (p.Ala335=)
c.447+23C=
c.939C= (p.Ala313=)
19g.18596641G>TCA306260282CRLF1c.1005C>A (p.Ala335=)
c.447+23C>A
c.939C>A (p.Ala313=)
 ClinVar dbSNP gnomAD v4
19g.18596642G>ACA404850455CRLF1c.1004C>T (p.Ala335Val)
c.447+22C>T
c.938C>T (p.Ala313Val)
19g.18596642G>CCA404850456CRLF1c.1004C>G (p.Ala335Gly)
c.447+22C>G
c.938C>G (p.Ala313Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.18596642G=CA2326432234CRLF1c.1004C= (p.Ala335=)
c.447+22C=
c.938C= (p.Ala313=)
19g.18596642G>TCA404850457CRLF1c.1004C>A (p.Ala335Asp)
c.447+22C>A
c.938C>A (p.Ala313Asp)
19g.18596643C>ACA404850458CRLF1c.1003G>T (p.Ala335Ser)
c.447+21G>T
c.937G>T (p.Ala313Ser)
19g.18596643C=CA2326432235CRLF1c.1003G= (p.Ala335=)
c.447+21G=
c.937G= (p.Ala313=)
19g.18596643C>GCA404850459CRLF1c.1003G>C (p.Ala335Pro)
c.447+21G>C
c.937G>C (p.Ala313Pro)
 dbSNP gnomAD v2 gnomAD v4
19g.18596643C>TCA404850460CRLF1c.1003G>A (p.Ala335Thr)
c.447+21G>A
c.937G>A (p.Ala313Thr)
19g.18596644T>ACA506044255CRLF1c.1002A>T (p.Thr334=)
c.447+20A>T
c.936A>T (p.Thr312=)
19g.18596644T>CCA506044256CRLF1c.1002A>G (p.Thr334=)
c.447+20A>G
c.936A>G (p.Thr312=)
 gnomAD v4
19g.18596644T>GCA506044257CRLF1c.1002A>C (p.Thr334=)
c.447+20A>C
c.936A>C (p.Thr312=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18596644T=CA2326432236CRLF1c.1002A= (p.Thr334=)
c.447+20A=
c.936A= (p.Thr312=)
19g.18596645G>ACA404850461CRLF1c.1001C>T (p.Thr334Ile)
c.447+19C>T
c.935C>T (p.Thr312Ile)
 gnomAD v4
19g.18596645G>CCA404850463CRLF1c.1001C>G (p.Thr334Arg)
c.447+19C>G
c.935C>G (p.Thr312Arg)
 gnomAD v4 COSMIC
19g.18596645G>TCA404850462CRLF1c.1001C>A (p.Thr334Lys)
c.447+19C>A
c.935C>A (p.Thr312Lys)
19g.18596646T>ACA404850464CRLF1c.1000A>T (p.Thr334Ser)
c.447+18A>T
c.934A>T (p.Thr312Ser)
19g.18596646T>CCA404850465CRLF1c.1000A>G (p.Thr334Ala)
c.447+18A>G
c.934A>G (p.Thr312Ala)
19g.18596646T>GCA404850466CRLF1c.1000A>C (p.Thr334Pro)
c.447+18A>C
c.934A>C (p.Thr312Pro)
 gnomAD v4
19g.18596647G>ACA9314037CRLF1c.999C>T (p.Pro333=)
c.447+17C>T
c.933C>T (p.Pro311=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596647G>CCA506044258CRLF1c.999C>G (p.Pro333=)
c.447+17C>G
c.933C>G (p.Pro311=)
19g.18596647G=CA2326432237CRLF1c.999C= (p.Pro333=)
c.447+17C=
c.933C= (p.Pro311=)
19g.18596647G>TCA506044259CRLF1c.999C>A (p.Pro333=)
c.447+17C>A
c.933C>A (p.Pro311=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18596648G>ACA404850467CRLF1c.998C>T (p.Pro333Leu)
c.447+16C>T
c.932C>T (p.Pro311Leu)
19g.18596648G>CCA404850468CRLF1c.998C>G (p.Pro333Arg)
c.447+16C>G
c.932C>G (p.Pro311Arg)
 dbSNP
19g.18596648G=CA2326432238CRLF1c.998C= (p.Pro333=)
c.447+16C=
c.932C= (p.Pro311=)
19g.18596648G>TCA404850469CRLF1c.998C>A (p.Pro333His)
c.447+16C>A
c.932C>A (p.Pro311His)
19g.18596649G>ACA404850472CRLF1c.997C>T (p.Pro333Ser)
c.447+15C>T
c.931C>T (p.Pro311Ser)
 dbSNP
19g.18596649G>CCA404850470CRLF1c.997C>G (p.Pro333Ala)
c.447+15C>G
c.931C>G (p.Pro311Ala)
 gnomAD v4
19g.18596649G=CA2326432239CRLF1c.997C= (p.Pro333=)
c.447+15C=
c.931C= (p.Pro311=)
19g.18596649G>TCA404850471CRLF1c.997C>A (p.Pro333Thr)
c.447+15C>A
c.931C>A (p.Pro311Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.18596650G>ACA506044260CRLF1c.996C>T (p.His332=)
c.447+14C>T
c.930C>T (p.His310=)
 dbSNP gnomAD v2 gnomAD v4
19g.18596650G>CCA404850473CRLF1c.996C>G (p.His332Gln)
c.447+14C>G
c.930C>G (p.His310Gln)
19g.18596650G=CA2326432240CRLF1c.996C= (p.His332=)
c.447+14C=
c.930C= (p.His310=)
19g.18596650G>TCA404850474CRLF1c.996C>A (p.His332Gln)
c.447+14C>A
c.930C>A (p.His310Gln)
19g.18596651T>ACA404850475CRLF1c.995A>T (p.His332Leu)
c.447+13A>T
c.929A>T (p.His310Leu)
19g.18596651T>CCA404850476CRLF1c.995A>G (p.His332Arg)
c.447+13A>G
c.929A>G (p.His310Arg)
19g.18596651T>GCA404850477CRLF1c.995A>C (p.His332Pro)
c.447+13A>C
c.929A>C (p.His310Pro)
 gnomAD v4
19g.18596652G>ACA404850478CRLF1c.994C>T (p.His332Tyr)
c.447+12C>T
c.928C>T (p.His310Tyr)
19g.18596652G>CCA404850480CRLF1c.994C>G (p.His332Asp)
c.447+12C>G
c.928C>G (p.His310Asp)
19g.18596652G>TCA404850479CRLF1c.994C>A (p.His332Asn)
c.447+12C>A
c.928C>A (p.His310Asn)
19g.18596653G>ACA506044263CRLF1c.993C>T (p.Ser331=)
c.447+11C>T
c.927C>T (p.Ser309=)
19g.18596653G>CCA404850481CRLF1c.993C>G (p.Ser331Arg)
c.447+11C>G
c.927C>G (p.Ser309Arg)
 gnomAD v4
19g.18596653G>TCA404850482CRLF1c.993C>A (p.Ser331Arg)
c.447+11C>A
c.927C>A (p.Ser309Arg)
 COSMIC
19g.18596654C>ACA404850483CRLF1c.992G>T (p.Ser331Ile)
c.447+10G>T
c.926G>T (p.Ser309Ile)
19g.18596654C=CA2326432241CRLF1c.992G= (p.Ser331=)
c.447+10G=
c.926G= (p.Ser309=)
19g.18596654C>GCA404850484CRLF1c.992G>C (p.Ser331Thr)
c.447+10G>C
c.926G>C (p.Ser309Thr)
19g.18596654C>TCA404850485CRLF1c.992G>A (p.Ser331Asn)
c.447+10G>A
c.926G>A (p.Ser309Asn)
 dbSNP gnomAD v2 gnomAD v4
19g.18596655T>ACA404850486CRLF1c.991A>T (p.Ser331Cys)
c.447+9A>T
c.925A>T (p.Ser309Cys)
19g.18596655T>CCA404850487CRLF1c.991A>G (p.Ser331Gly)
c.447+9A>G
c.925A>G (p.Ser309Gly)
19g.18596655T>GCA404850488CRLF1c.991A>C (p.Ser331Arg)
c.447+9A>C
c.925A>C (p.Ser309Arg)
19g.18596656C>ACA404850489CRLF1c.990G>T (p.Trp330Cys)
c.447+8G>T
c.924G>T (p.Trp308Cys)
19g.18596656C=CA2326432243CRLF1c.990G= (p.Trp330=)
c.447+8G=
c.924G= (p.Trp308=)
19g.18596656C>GCA404850490CRLF1c.990G>C (p.Trp330Cys)
c.447+8G>C
c.924G>C (p.Trp308Cys)
19g.18596656C>TCA306260292CRLF1c.990G>A (p.Trp330Ter)
c.447+8G>A
c.924G>A (p.Trp308Ter)
 dbSNP gnomAD v4
19g.18596656_18596660delinsCCACTCA2326432242CRLF1c.986_990delinsAGTGG (p.Glu329=)
c.447+4_447+8delinsAGTGG
c.920_924delinsAGTGG (p.Glu307=)
19g.18596657C>ACA404850491CRLF1c.989G>T (p.Trp330Leu)
c.447+7G>T
c.923G>T (p.Trp308Leu)
19g.18596657C>GCA404850492CRLF1c.989G>C (p.Trp330Ser)
c.447+7G>C
c.923G>C (p.Trp308Ser)
19g.18596657C>TCA404850493CRLF1c.989G>A (p.Trp330Ter)
c.447+7G>A
c.923G>A (p.Trp308Ter)
19g.18596662_18596665delCA9314038CRLF1c.986_989del (p.Glu329GlyfsTer?)
c.447+4_447+7del
c.920_923del (p.Glu307GlyfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596658A>CCA404850494CRLF1c.988T>G (p.Trp330Gly)
c.447+6T>G
c.922T>G (p.Trp308Gly)
19g.18596658A>GCA404850495CRLF1c.988T>C (p.Trp330Arg)
c.447+6T>C
c.922T>C (p.Trp308Arg)
19g.18596658A>TCA404850496CRLF1c.988T>A (p.Trp330Arg)
c.447+6T>A
c.922T>A (p.Trp308Arg)
19g.18596659C>ACA404850497CRLF1c.987G>T (p.Glu329Asp)
c.447+5G>T
c.921G>T (p.Glu307Asp)
19g.18596659C=CA2326432244CRLF1c.987G= (p.Glu329=)
c.447+5G=
c.921G= (p.Glu307=)
19g.18596659C>GCA9314039CRLF1c.987G>C (p.Glu329Asp)
c.447+5G>C
c.921G>C (p.Glu307Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18596659C>TCA506116306CRLF1c.987G>A (p.Glu329=)
c.447+5G>A
c.921G>A (p.Glu307=)
 dbSNP gnomAD v2 gnomAD v4
19g.18596660T>ACA404850498CRLF1c.986A>T (p.Glu329Val)
c.447+4A>T
c.920A>T (p.Glu307Val)
19g.18596660T>CCA404850499CRLF1c.986A>G (p.Glu329Gly)
c.447+4A>G
c.920A>G (p.Glu307Gly)
19g.18596660T>GCA9314040CRLF1c.986A>C (p.Glu329Ala)
c.447+4A>C
c.920A>C (p.Glu307Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18596660T=CA2326432245CRLF1c.986A= (p.Glu329=)
c.447+4A=
c.920A= (p.Glu307=)
19g.18596661C>ACA404850500CRLF1c.985G>T (p.Glu329Ter)
c.447+3G>T
c.919G>T (p.Glu307Ter)
19g.18596661C>GCA404850501CRLF1c.985G>C (p.Glu329Gln)
c.447+3G>C
c.919G>C (p.Glu307Gln)
19g.18596661C>TCA404850502CRLF1c.985G>A (p.Glu329Lys)
c.447+3G>A
c.919G>A (p.Glu307Lys)
 gnomAD v4
19g.18596661dupCA915952925CRLF1c.985dup (p.Glu329GlyfsTer14)
c.447+3dup
c.919dup (p.Glu307GlyfsTer14)
 ClinVar dbSNP
19g.18596662A=CA2326432246CRLF1c.984T= (p.Ser328=)
c.447+2T=
c.918T= (p.Ser306=)
19g.18596662A>CCA404850504CRLF1c.984T>G (p.Ser328Arg)
c.447+2T>G
c.918T>G (p.Ser306Arg)
19g.18596662A>GCA506116307CRLF1c.984T>C (p.Ser328=)
c.447+2T>C
c.918T>C (p.Ser306=)
 gnomAD v4
19g.18596662A>TCA404850503CRLF1c.984T>A (p.Ser328Arg)
c.447+2T>A
c.918T>A (p.Ser306Arg)
19g.18596663C>ACA404850505CRLF1c.983G>T (p.Ser328Ile)
c.447+1G>T
c.917G>T (p.Ser306Ile)
19g.18596663C>GCA404850506CRLF1c.983G>C (p.Ser328Thr)
c.447+1G>C
c.917G>C (p.Ser306Thr)
19g.18596663C>TCA404850507CRLF1c.983G>A (p.Ser328Asn)
c.447+1G>A
c.917G>A (p.Ser306Asn)
19g.18596663dupCA16620812CRLF1c.983dup (p.Ser328ArgfsTer2)
c.447+1dup
c.917dup (p.Ser306ArgfsTer2)
 ClinVar dbSNP
19g.18596664T>ACA404850508CRLF1c.982A>T (p.Ser328Cys)
c.447A>T
c.916A>T (p.Ser306Cys)
19g.18596664T>CCA306260296CRLF1c.982A>G (p.Ser328Gly)
c.447A>G
c.916A>G (p.Ser306Gly)
 dbSNP gnomAD v4
19g.18596664T>GCA404850509CRLF1c.982A>C (p.Ser328Arg)
c.447A>C
c.916A>C (p.Ser306Arg)
19g.18596664T=CA2326432247CRLF1c.982A= (p.Ser328=)
c.447A=
c.916A= (p.Ser306=)
19g.18596665C>ACA404850510CRLF1c.981G>T (p.Trp327Cys)
c.446G>T
c.915G>T (p.Trp305Cys)
19g.18596665C>GCA404850511CRLF1c.981G>C (p.Trp327Cys)
c.446G>C
c.915G>C (p.Trp305Cys)
19g.18596665C>TCA404850512CRLF1c.981G>A (p.Trp327Ter)
c.446G>A
c.915G>A (p.Trp305Ter)
19g.18596666C>ACA404850513CRLF1c.980G>T (p.Trp327Leu)
c.445G>T
c.914G>T (p.Trp305Leu)
19g.18596666C>GCA404850514CRLF1c.980G>C (p.Trp327Ser)
c.445G>C
c.914G>C (p.Trp305Ser)
19g.18596666C>TCA404850515CRLF1c.980G>A (p.Trp327Ter)
c.445G>A
c.914G>A (p.Trp305Ter)
19g.18596667A>CCA404850517CRLF1c.979T>G (p.Trp327Gly)
c.444T>G
c.913T>G (p.Trp305Gly)
19g.18596667A>GCA404850518CRLF1c.979T>C (p.Trp327Arg)
c.444T>C
c.913T>C (p.Trp305Arg)
19g.18596667A>TCA404850516CRLF1c.979T>A (p.Trp327Arg)
c.444T>A
c.913T>A (p.Trp305Arg)
19g.18596668G>ACA506116308CRLF1c.978C>T (p.Ile326=)
c.443C>T
c.912C>T (p.Ile304=)
19g.18596668G>CCA404850519CRLF1c.978C>G (p.Ile326Met)
c.443C>G
c.912C>G (p.Ile304Met)
19g.18596668G>TCA506116309CRLF1c.978C>A (p.Ile326=)
c.443C>A
c.912C>A (p.Ile304=)
 gnomAD v4
19g.18596669A=CA2326432248CRLF1c.977T= (p.Ile326=)
c.442T=
c.911T= (p.Ile304=)
19g.18596669A>CCA404850520CRLF1c.977T>G (p.Ile326Ser)
c.442T>G
c.911T>G (p.Ile304Ser)
19g.18596669A>GCA404850521CRLF1c.977T>C (p.Ile326Thr)
c.442T>C
c.911T>C (p.Ile304Thr)
19g.18596669A>TCA9314041CRLF1c.977T>A (p.Ile326Asn)
c.442T>A
c.911T>A (p.Ile304Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596670T>ACA404850522CRLF1c.976A>T (p.Ile326Phe)
c.441A>T
c.910A>T (p.Ile304Phe)
19g.18596670T>CCA9314042CRLF1c.976A>G (p.Ile326Val)
c.441A>G
c.910A>G (p.Ile304Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18596670T>GCA404850523CRLF1c.976A>C (p.Ile326Leu)
c.441A>C
c.910A>C (p.Ile304Leu)
19g.18596670T=CA2326432249CRLF1c.976A= (p.Ile326=)
c.441A=
c.910A= (p.Ile304=)
19g.18596671C>ACA506116310CRLF1c.975G>T (p.Gly325=)
c.440G>T
c.909G>T (p.Gly303=)
19g.18596671C=CA2326432250CRLF1c.975G= (p.Gly325=)
c.440G=
c.909G= (p.Gly303=)
19g.18596671C>GCA506116311CRLF1c.975G>C (p.Gly325=)
c.440G>C
c.909G>C (p.Gly303=)
19g.18596671C>TCA506116312CRLF1c.975G>A (p.Gly325=)
c.440G>A
c.909G>A (p.Gly303=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18596672C>ACA404850524CRLF1c.974G>T (p.Gly325Val)
c.439G>T
c.908G>T (p.Gly303Val)
19g.18596672C>GCA404850525CRLF1c.974G>C (p.Gly325Ala)
c.439G>C
c.908G>C (p.Gly303Ala)
19g.18596672C>TCA404850526CRLF1c.974G>A (p.Gly325Glu)
c.439G>A
c.908G>A (p.Gly303Glu)
19g.18596673C>ACA404850527CRLF1c.973G>T (p.Gly325Trp)
c.438G>T
c.907G>T (p.Gly303Trp)
19g.18596673C=CA2326432251CRLF1c.973G= (p.Gly325=)
c.438G=
c.907G= (p.Gly303=)
19g.18596673C>GCA404850528CRLF1c.973G>C (p.Gly325Arg)
c.438G>C
c.907G>C (p.Gly303Arg)
19g.18596673C>TCA306260312CRLF1c.973G>A (p.Gly325Arg)
c.438G>A
c.907G>A (p.Gly303Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.18596674G>ACA9314043CRLF1c.972C>T (p.Ala324=)
c.437C>T
c.906C>T (p.Ala302=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18596674G>CCA506116313CRLF1c.972C>G (p.Ala324=)
c.437C>G
c.906C>G (p.Ala302=)
 ClinVar dbSNP gnomAD v4
19g.18596674G=CA2326432252CRLF1c.972C= (p.Ala324=)
c.437C=
c.906C= (p.Ala302=)
19g.18596674G>TCA506116314CRLF1c.972C>A (p.Ala324=)
c.437C>A
c.906C>A (p.Ala302=)
 dbSNP gnomAD v3 gnomAD v4
19g.18596675delCA2583603054CRLF1c.972del (p.Ile326SerfsTer?)
c.437del
c.906del (p.Ile304SerfsTer?)
 gnomAD v4
19g.18596675G>ACA404850529CRLF1c.971C>T (p.Ala324Val)
c.436C>T
c.905C>T (p.Ala302Val)
19g.18596675G>CCA9314044CRLF1c.971C>G (p.Ala324Gly)
c.436C>G
c.905C>G (p.Ala302Gly)
 dbSNP ExAC
19g.18596675G=CA2326432253CRLF1c.971C= (p.Ala324=)
c.436C=
c.905C= (p.Ala302=)
19g.18596675G>TCA404850530CRLF1c.971C>A (p.Ala324Asp)
c.436C>A
c.905C>A (p.Ala302Asp)
19g.18596676C>ACA404850531CRLF1c.970G>T (p.Ala324Ser)
c.435G>T
c.904G>T (p.Ala302Ser)
 gnomAD v4
19g.18596676C>GCA404850533CRLF1c.970G>C (p.Ala324Pro)
c.435G>C
c.904G>C (p.Ala302Pro)
19g.18596676C>TCA404850532CRLF1c.970G>A (p.Ala324Thr)
c.435G>A
c.904G>A (p.Ala302Thr)
19g.18596676_18596682delinsCTTTCTTCA2326432254CRLF1c.964_970delinsAAGAAAG (p.Lys322=)
c.429_435delinsAAGAAAG
c.898_904delinsAAGAAAG (p.Lys300=)
19g.18596677T>ACA404850534CRLF1c.969A>T (p.Lys323Asn)
c.434A>T
c.903A>T (p.Lys301Asn)
19g.18596677T>CCA506116315CRLF1c.969A>G (p.Lys323=)
c.434A>G
c.903A>G (p.Lys301=)
 dbSNP gnomAD v3 gnomAD v4
19g.18596677T>GCA404850535CRLF1c.969A>C (p.Lys323Asn)
c.434A>C
c.903A>C (p.Lys301Asn)
19g.18596677T=CA2326432255CRLF1c.969A= (p.Lys323=)
c.434A=
c.903A= (p.Lys301=)
19g.18596677_18596682delCA783933388CRLF1c.964_969del (p.Lys322_Lys323del)
c.429_434del
c.898_903del (p.Lys300_Lys301del)
 dbSNP
19g.18596678T>ACA404850536CRLF1c.968A>T (p.Lys323Ile)
c.433A>T
c.902A>T (p.Lys301Ile)
19g.18596678T>CCA404850537CRLF1c.968A>G (p.Lys323Arg)
c.433A>G
c.902A>G (p.Lys301Arg)
19g.18596678T>GCA404850538CRLF1c.968A>C (p.Lys323Thr)
c.433A>C
c.902A>C (p.Lys301Thr)
19g.18596679T>ACA404850539CRLF1c.967A>T (p.Lys323Ter)
c.432A>T
c.901A>T (p.Lys301Ter)
19g.18596679T>CCA404850540CRLF1c.967A>G (p.Lys323Glu)
c.432A>G
c.901A>G (p.Lys301Glu)
19g.18596679T>GCA404850541CRLF1c.967A>C (p.Lys323Gln)
c.432A>C
c.901A>C (p.Lys301Gln)
19g.18596680C>ACA404850542CRLF1c.966G>T (p.Lys322Asn)
c.431G>T
c.900G>T (p.Lys300Asn)
19g.18596680C>GCA404850543CRLF1c.966G>C (p.Lys322Asn)
c.431G>C
c.900G>C (p.Lys300Asn)
 gnomAD v4
19g.18596680C>TCA506116316CRLF1c.966G>A (p.Lys322=)
c.431G>A
c.900G>A (p.Lys300=)
 ClinVar gnomAD v4
19g.18596681T>ACA404850546CRLF1c.965A>T (p.Lys322Met)
c.430A>T
c.899A>T (p.Lys300Met)
19g.18596681T>CCA404850545CRLF1c.965A>G (p.Lys322Arg)
c.430A>G
c.899A>G (p.Lys300Arg)
 dbSNP gnomAD v4
19g.18596681T>GCA404850544CRLF1c.965A>C (p.Lys322Thr)
c.430A>C
c.899A>C (p.Lys300Thr)
 gnomAD v4
19g.18596681T=CA2326432256CRLF1c.965A= (p.Lys322=)
c.430A=
c.899A= (p.Lys300=)
19g.18596682T>ACA404850547CRLF1c.964A>T (p.Lys322Ter)
c.429A>T
c.898A>T (p.Lys300Ter)
19g.18596682T>CCA9314045CRLF1c.964A>G (p.Lys322Glu)
c.429A>G
c.898A>G (p.Lys300Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18596682T>GCA404850548CRLF1c.964A>C (p.Lys322Gln)
c.429A>C
c.898A>C (p.Lys300Gln)
 gnomAD v4
19g.18596682T=CA2326432257CRLF1c.964A= (p.Lys322=)
c.429A=
c.898A= (p.Lys300=)
19g.18596683G>ACA506116318CRLF1c.963C>T (p.Ser321=)
c.428C>T
c.897C>T (p.Ser299=)
19g.18596683G>CCA506116319CRLF1c.963C>G (p.Ser321=)
c.428C>G
c.897C>G (p.Ser299=)
19g.18596683G>TCA506116317CRLF1c.963C>A (p.Ser321=)
c.428C>A
c.897C>A (p.Ser299=)
 gnomAD v4
19g.18596684G>ACA404850549CRLF1c.962C>T (p.Ser321Phe)
c.427C>T
c.896C>T (p.Ser299Phe)
19g.18596684G>CCA404850550CRLF1c.962C>G (p.Ser321Cys)
c.427C>G
c.896C>G (p.Ser299Cys)
19g.18596684G>TCA404850551CRLF1c.962C>A (p.Ser321Tyr)
c.427C>A
c.896C>A (p.Ser299Tyr)
 gnomAD v4
19g.18596685A>CCA404850552CRLF1c.961T>G (p.Ser321Ala)
c.426T>G
c.895T>G (p.Ser299Ala)
19g.18596685A>GCA404850553CRLF1c.961T>C (p.Ser321Pro)
c.426T>C
c.895T>C (p.Ser299Pro)
19g.18596685A>TCA404850554CRLF1c.961T>A (p.Ser321Thr)
c.426T>A
c.895T>A (p.Ser299Thr)
19g.18596686G>ACA9314046CRLF1c.960C>T (p.Gly320=)
c.425C>T
c.894C>T (p.Gly298=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18596686G>CCA506116323CRLF1c.960C>G (p.Gly320=)
c.425C>G
c.894C>G (p.Gly298=)
 dbSNP gnomAD v4
19g.18596686G=CA2326432258CRLF1c.960C= (p.Gly320=)
c.425C=
c.894C= (p.Gly298=)
19g.18596686G>TCA506116322CRLF1c.960C>A (p.Gly320=)
c.425C>A
c.894C>A (p.Gly298=)
 dbSNP gnomAD v2 gnomAD v4
19g.18596687C>ACA404850555CRLF1c.959G>T (p.Gly320Val)
c.424G>T
c.893G>T (p.Gly298Val)
19g.18596687C=CA2326432259CRLF1c.959G= (p.Gly320=)
c.424G=
c.893G= (p.Gly298=)
19g.18596687C>GCA404850556CRLF1c.959G>C (p.Gly320Ala)
c.424G>C
c.893G>C (p.Gly298Ala)
19g.18596687C>TCA404850557CRLF1c.959G>A (p.Gly320Asp)
c.424G>A
c.893G>A (p.Gly298Asp)
 dbSNP
19g.18596688C>ACA404850560CRLF1c.958G>T (p.Gly320Cys)
c.423G>T
c.892G>T (p.Gly298Cys)
19g.18596688C=CA2326432260CRLF1c.958G= (p.Gly320=)
c.423G=
c.892G= (p.Gly298=)
19g.18596688C>GCA404850558CRLF1c.958G>C (p.Gly320Arg)
c.423G>C
c.892G>C (p.Gly298Arg)
19g.18596688C>TCA404850559CRLF1c.958G>A (p.Gly320Ser)
c.423G>A
c.892G>A (p.Gly298Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.18596689A=CA2326432261CRLF1c.957T= (p.Tyr319=)
c.422T=
c.891T= (p.Tyr297=)
19g.18596689A>CCA404850561CRLF1c.957T>G (p.Tyr319Ter)
c.422T>G
c.891T>G (p.Tyr297Ter)
 gnomAD v4
19g.18596689A>GCA506116327CRLF1c.957T>C (p.Tyr319=)
c.422T>C
c.891T>C (p.Tyr297=)
 dbSNP gnomAD v2 gnomAD v4
19g.18596689A>TCA404850562CRLF1c.957T>A (p.Tyr319Ter)
c.422T>A
c.891T>A (p.Tyr297Ter)
19g.18596690T>ACA404850563CRLF1c.956A>T (p.Tyr319Phe)
c.421A>T
c.890A>T (p.Tyr297Phe)
19g.18596690T>CCA404850564CRLF1c.956A>G (p.Tyr319Cys)
c.421A>G
c.890A>G (p.Tyr297Cys)
19g.18596690T>GCA404850565CRLF1c.956A>C (p.Tyr319Ser)
c.421A>C
c.890A>C (p.Tyr297Ser)
19g.18596691A>CCA404850566CRLF1c.955T>G (p.Tyr319Asp)
c.420T>G
c.889T>G (p.Tyr297Asp)
19g.18596691A>GCA404850567CRLF1c.955T>C (p.Tyr319His)
c.420T>C
c.889T>C (p.Tyr297His)
19g.18596691A>TCA404850568CRLF1c.955T>A (p.Tyr319Asn)
c.420T>A
c.889T>A (p.Tyr297Asn)
19g.18596692G>ACA506116329CRLF1c.954C>T (p.Ile318=)
c.419C>T
c.888C>T (p.Ile296=)
 dbSNP gnomAD v4
19g.18596692G>CCA404850569CRLF1c.954C>G (p.Ile318Met)
c.419C>G
c.888C>G (p.Ile296Met)
19g.18596692G=CA2326432262CRLF1c.954C= (p.Ile318=)
c.419C=
c.888C= (p.Ile296=)
19g.18596692G>TCA506116330CRLF1c.954C>A (p.Ile318=)
c.419C>A
c.888C>A (p.Ile296=)
19g.18596693A>CCA404850570CRLF1c.953T>G (p.Ile318Ser)
c.418T>G
c.887T>G (p.Ile296Ser)
19g.18596693A>GCA404850571CRLF1c.953T>C (p.Ile318Thr)
c.418T>C
c.887T>C (p.Ile296Thr)
19g.18596693A>TCA404850572CRLF1c.953T>A (p.Ile318Asn)
c.418T>A
c.887T>A (p.Ile296Asn)
19g.18596694T>ACA404850575CRLF1c.952A>T (p.Ile318Phe)
c.417A>T
c.886A>T (p.Ile296Phe)
19g.18596694T>CCA404850574CRLF1c.952A>G (p.Ile318Val)
c.417A>G
c.886A>G (p.Ile296Val)
19g.18596694T>GCA404850573CRLF1c.952A>C (p.Ile318Leu)
c.417A>C
c.886A>C (p.Ile296Leu)
19g.18596695G>ACA506116334CRLF1c.951C>T (p.Gly317=)
c.416C>T
c.885C>T (p.Gly295=)
 gnomAD v4
19g.18596695G>CCA506116335CRLF1c.951C>G (p.Gly317=)
c.416C>G
c.885C>G (p.Gly295=)
19g.18596695G>TCA506116336CRLF1c.951C>A (p.Gly317=)
c.416C>A
c.885C>A (p.Gly295=)
19g.18596696C>ACA404850576CRLF1c.950G>T (p.Gly317Val)
c.415G>T
c.884G>T (p.Gly295Val)
19g.18596696C>GCA404850578CRLF1c.950G>C (p.Gly317Ala)
c.415G>C
c.884G>C (p.Gly295Ala)
19g.18596696C>TCA404850577CRLF1c.950G>A (p.Gly317Asp)
c.415G>A
c.884G>A (p.Gly295Asp)
19g.18596697C>ACA404850579CRLF1c.949G>T (p.Gly317Cys)
c.414G>T
c.883G>T (p.Gly295Cys)
19g.18596697C>GCA404850580CRLF1c.949G>C (p.Gly317Arg)
c.414G>C
c.883G>C (p.Gly295Arg)
19g.18596697C>TCA404850581CRLF1c.949G>A (p.Gly317Ser)
c.414G>A
c.883G>A (p.Gly295Ser)
 gnomAD v4
19g.18596698A>CCA404850582CRLF1c.948T>G (p.Phe316Leu)
c.413T>G
c.882T>G (p.Phe294Leu)
19g.18596698A>GCA506116339CRLF1c.948T>C (p.Phe316=)
c.413T>C
c.882T>C (p.Phe294=)
19g.18596698A>TCA404850583CRLF1c.948T>A (p.Phe316Leu)
c.413T>A
c.882T>A (p.Phe294Leu)
19g.18596699A>CCA404850586CRLF1c.947T>G (p.Phe316Cys)
c.412T>G
c.881T>G (p.Phe294Cys)
19g.18596699A>GCA404850585CRLF1c.947T>C (p.Phe316Ser)
c.412T>C
c.881T>C (p.Phe294Ser)
19g.18596699A>TCA404850584CRLF1c.947T>A (p.Phe316Tyr)
c.412T>A
c.881T>A (p.Phe294Tyr)
19g.18596700A>CCA404850587CRLF1c.946T>G (p.Phe316Val)
c.411T>G
c.880T>G (p.Phe294Val)
19g.18596700A>GCA404850588CRLF1c.946T>C (p.Phe316Leu)
c.411T>C
c.880T>C (p.Phe294Leu)
19g.18596700A>TCA404850589CRLF1c.946T>A (p.Phe316Ile)
c.411T>A
c.880T>A (p.Phe294Ile)
19g.18596701G>ACA506116341CRLF1c.945C>T (p.Pro315=)
c.410C>T
c.879C>T (p.Pro293=)
 dbSNP gnomAD v4
19g.18596701G>CCA506116342CRLF1c.945C>G (p.Pro315=)
c.410C>G
c.879C>G (p.Pro293=)
19g.18596701G=CA2326432263CRLF1c.945C= (p.Pro315=)
c.410C=
c.879C= (p.Pro293=)
19g.18596701G>TCA506116343CRLF1c.945C>A (p.Pro315=)
c.410C>A
c.879C>A (p.Pro293=)
19g.18596702G>ACA404850590CRLF1c.944C>T (p.Pro315Leu)
c.409C>T
c.878C>T (p.Pro293Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.18596702G>CCA404850591CRLF1c.944C>G (p.Pro315Arg)
c.409C>G
c.878C>G (p.Pro293Arg)
19g.18596702G=CA2326432264CRLF1c.944C= (p.Pro315=)
c.409C=
c.878C= (p.Pro293=)
19g.18596702G>TCA404850592CRLF1c.944C>A (p.Pro315His)
c.409C>A
c.878C>A (p.Pro293His)
19g.18596703G>ACA404850593CRLF1c.943C>T (p.Pro315Ser)
c.408C>T
c.877C>T (p.Pro293Ser)
 gnomAD v4
19g.18596703G>CCA404850595CRLF1c.943C>G (p.Pro315Ala)
c.408C>G
c.877C>G (p.Pro293Ala)
19g.18596703G>TCA404850594CRLF1c.943C>A (p.Pro315Thr)
c.408C>A
c.877C>A (p.Pro293Thr)
19g.18596704G>ACA506116345CRLF1c.942C>T (p.Asn314=)
c.407C>T
c.876C>T (p.Asn292=)
 gnomAD v4
19g.18596704G>CCA404850596CRLF1c.942C>G (p.Asn314Lys)
c.407C>G
c.876C>G (p.Asn292Lys)
19g.18596704G>TCA404850597CRLF1c.942C>A (p.Asn314Lys)
c.407C>A
c.876C>A (p.Asn292Lys)
19g.18596705T>ACA404850598CRLF1c.941A>T (p.Asn314Ile)
c.406A>T
c.875A>T (p.Asn292Ile)
19g.18596705T>CCA404850599CRLF1c.941A>G (p.Asn314Ser)
c.406A>G
c.875A>G (p.Asn292Ser)
19g.18596705T>GCA404850600CRLF1c.941A>C (p.Asn314Thr)
c.406A>C
c.875A>C (p.Asn292Thr)
19g.18596706T>ACA404850601CRLF1c.940A>T (p.Asn314Tyr)
c.405A>T
c.874A>T (p.Asn292Tyr)
19g.18596706T>CCA9314047CRLF1c.940A>G (p.Asn314Asp)
c.405A>G
c.874A>G (p.Asn292Asp)
 dbSNP ExAC gnomAD v2
19g.18596706T>GCA404850602CRLF1c.940A>C (p.Asn314His)
c.405A>C
c.874A>C (p.Asn292His)
19g.18596706T=CA2326432265CRLF1c.940A= (p.Asn314=)
c.405A=
c.874A= (p.Asn292=)
19g.18596707G>ACA506116347CRLF1c.939C>T (p.Cys313=)
c.404C>T
c.873C>T (p.Cys291=)
19g.18596707G>CCA404850603CRLF1c.939C>G (p.Cys313Trp)
c.404C>G
c.873C>G (p.Cys291Trp)
19g.18596707G>TCA404850604CRLF1c.939C>A (p.Cys313Ter)
c.404C>A
c.873C>A (p.Cys291Ter)
19g.18596707_18596708delinsGCCA2326432266CRLF1c.938_939delinsGC (p.Cys313=)
c.403_404delinsGC
c.872_873delinsGC (p.Cys291=)
19g.18596708delCA632626055CRLF1c.938del (p.Cys313SerfsTer?)
c.403del
c.872del (p.Cys291SerfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18596708C>ACA404850607CRLF1c.938G>T (p.Cys313Phe)
c.403G>T
c.872G>T (p.Cys291Phe)
19g.18596708C>GCA404850606CRLF1c.938G>C (p.Cys313Ser)
c.403G>C
c.872G>C (p.Cys291Ser)
19g.18596708C>TCA404850605CRLF1c.938G>A (p.Cys313Tyr)
c.403G>A
c.872G>A (p.Cys291Tyr)
19g.18596709A>CCA404850608CRLF1c.937T>G (p.Cys313Gly)
c.402T>G
c.871T>G (p.Cys291Gly)
19g.18596709A>GCA404850609CRLF1c.937T>C (p.Cys313Arg)
c.402T>C
c.871T>C (p.Cys291Arg)
19g.18596709A>TCA404850610CRLF1c.937T>A (p.Cys313Ser)
c.402T>A
c.871T>A (p.Cys291Ser)
19g.18596710G>ACA506116353CRLF1c.936C>T (p.Arg312=)
c.401C>T
c.870C>T (p.Arg290=)
19g.18596710G>CCA506116352CRLF1c.936C>G (p.Arg312=)
c.401C>G
c.870C>G (p.Arg290=)
19g.18596710G>TCA506116351CRLF1c.936C>A (p.Arg312=)
c.401C>A
c.870C>A (p.Arg290=)
19g.18596711C>ACA9314048CRLF1c.935G>T (p.Arg312Leu)
c.400G>T
c.869G>T (p.Arg290Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596711C=CA2326432267CRLF1c.935G= (p.Arg312=)
c.400G=
c.869G= (p.Arg290=)
19g.18596711C>GCA404850611CRLF1c.935G>C (p.Arg312Pro)
c.400G>C
c.869G>C (p.Arg290Pro)
 dbSNP gnomAD v4
19g.18596711C>TCA342071CRLF1c.935G>A (p.Arg312His)
c.400G>A
c.869G>A (p.Arg290His)
 dbSNP gnomAD v2 gnomAD v4
19g.18596712G>ACA9314049CRLF1c.934C>T (p.Arg312Cys)
c.399C>T
c.868C>T (p.Arg290Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596712G>CCA404850612CRLF1c.934C>G (p.Arg312Gly)
c.399C>G
c.868C>G (p.Arg290Gly)
 gnomAD v4
19g.18596712G=CA2326432268CRLF1c.934C= (p.Arg312=)
c.399C=
c.868C= (p.Arg290=)
19g.18596712G>TCA404850613CRLF1c.934C>A (p.Arg312Ser)
c.399C>A
c.868C>A (p.Arg290Ser)
19g.18596713C>ACA506116355CRLF1c.933G>T (p.Val311=)
c.398G>T
c.867G>T (p.Val289=)
19g.18596713C>GCA506116356CRLF1c.933G>C (p.Val311=)
c.398G>C
c.867G>C (p.Val289=)
19g.18596713C>TCA506116357CRLF1c.933G>A (p.Val311=)
c.398G>A
c.867G>A (p.Val289=)
 gnomAD v4
19g.18596714A>CCA404850614CRLF1c.932T>G (p.Val311Gly)
c.397T>G
c.866T>G (p.Val289Gly)
19g.18596714A>GCA404850615CRLF1c.932T>C (p.Val311Ala)
c.397T>C
c.866T>C (p.Val289Ala)
19g.18596714A>TCA404850616CRLF1c.932T>A (p.Val311Glu)
c.397T>A
c.866T>A (p.Val289Glu)
19g.18596715C>ACA404850618CRLF1c.931G>T (p.Val311Leu)
c.396G>T
c.865G>T (p.Val289Leu)
19g.18596715C=CA2326432269CRLF1c.931G= (p.Val311=)
c.396G=
c.865G= (p.Val289=)
19g.18596715C>GCA306260326CRLF1c.931G>C (p.Val311Leu)
c.396G>C
c.865G>C (p.Val289Leu)
 dbSNP
19g.18596715C>TCA404850617CRLF1c.931G>A (p.Val311Met)
c.396G>A
c.865G>A (p.Val289Met)
19g.18596716T>ACA404850619CRLF1c.930A>T (p.Gln310His)
c.395A>T
c.864A>T (p.Gln288His)
19g.18596716T>CCA506116359CRLF1c.930A>G (p.Gln310=)
c.395A>G
c.864A>G (p.Gln288=)
 gnomAD v4
19g.18596716T>GCA404850620CRLF1c.930A>C (p.Gln310His)
c.395A>C
c.864A>C (p.Gln288His)
19g.18596717T>ACA404850621CRLF1c.929A>T (p.Gln310Leu)
c.394A>T
c.863A>T (p.Gln288Leu)
19g.18596717T>CCA404850622CRLF1c.929A>G (p.Gln310Arg)
c.394A>G
c.863A>G (p.Gln288Arg)
19g.18596717T>GCA404850623CRLF1c.929A>C (p.Gln310Pro)
c.394A>C
c.863A>C (p.Gln288Pro)
19g.18596718G>ACA404850626CRLF1c.928C>T (p.Gln310Ter)
c.393C>T
c.862C>T (p.Gln288Ter)
19g.18596718G>CCA404850624CRLF1c.928C>G (p.Gln310Glu)
c.393C>G
c.862C>G (p.Gln288Glu)
19g.18596718G>TCA404850625CRLF1c.928C>A (p.Gln310Lys)
c.393C>A
c.862C>A (p.Gln288Lys)
19g.18596719C>ACA506116361CRLF1c.927G>T (p.Val309=)
c.392G>T
c.861G>T (p.Val287=)
 dbSNP
19g.18596719C=CA2326432270CRLF1c.927G= (p.Val309=)
c.392G=
c.861G= (p.Val287=)
19g.18596719C>GCA506116363CRLF1c.927G>C (p.Val309=)
c.392G>C
c.861G>C (p.Val287=)
19g.18596719C>TCA506116365CRLF1c.927G>A (p.Val309=)
c.392G>A
c.861G>A (p.Val287=)
19g.18596720A=CA2326432271CRLF1c.926T= (p.Val309=)
c.391T=
c.860T= (p.Val287=)
19g.18596720A>CCA404850627CRLF1c.926T>G (p.Val309Gly)
c.391T>G
c.860T>G (p.Val287Gly)
19g.18596720A>GCA404850628CRLF1c.926T>C (p.Val309Ala)
c.391T>C
c.860T>C (p.Val287Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.18596720A>TCA404850629CRLF1c.926T>A (p.Val309Glu)
c.391T>A
c.860T>A (p.Val287Glu)

Number of alleles fetched