Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240876650_240877771delCA275856AGXTc.846+646_942+139del
ClinVar
2g.240877556_240877571delCA2577302731AGXTc.866_881del (p.Arg289ProfsTer18)
n.644_659del
2g.240877559_240877572dupCA2664011206AGXTc.869_882dup (p.Ala295SerfsTer22)
n.647_660dup
gnomAD v4
2g.240877560G>ACA432025361AGXTc.870G>A (p.Gln290=)
n.648G>A
gnomAD v4
2g.240877560G>CCA351319109AGXTc.870G>C (p.Gln290His)
n.648G>C
2g.240877560G>TCA351319110AGXTc.870G>T (p.Gln290His)
n.648G>T
gnomAD v4
2g.240877561C>ACA351319113AGXTc.871C>A (p.His291Asn)
n.649C>A
gnomAD v4
2g.240877561C>GCA351319111AGXTc.871C>G (p.His291Asp)
n.649C>G
2g.240877561C>TCA351319112AGXTc.871C>T (p.His291Tyr)
n.649C>T
2g.240877562A>CCA351319114AGXTc.872A>C (p.His291Pro)
n.650A>C
2g.240877562A>GCA351319115AGXTc.872A>G (p.His291Arg)
n.650A>G
2g.240877562A>TCA351319116AGXTc.872A>T (p.His291Leu)
n.650A>T
2g.240877563C>ACA351319117AGXTc.873C>A (p.His291Gln)
n.651C>A
2g.240877563C=CA1339335512AGXTc.873C= (p.His291=)
n.651C=
2g.240877563C>GCA351319119AGXTc.873C>G (p.His291Gln)
n.651C>G
2g.240877563C>TCA2209326AGXTc.873C>T (p.His291=)
n.651C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240877564C>ACA351319121AGXTc.874C>A (p.Arg292Ser)
n.652C>A
gnomAD v4
2g.240877564C=CA1339335513AGXTc.874C= (p.Arg292=)
n.652C=
2g.240877564C>GCA351319128AGXTc.874C>G (p.Arg292Gly)
n.652C>G
2g.240877564C>TCA351319131AGXTc.874C>T (p.Arg292Cys)
n.652C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240877565G>ACA68180593AGXTc.875G>A (p.Arg292His)
n.653G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240877565G>CCA351319134AGXTc.875G>C (p.Arg292Pro)
n.653G>C
gnomAD v4
2g.240877565G=CA1339335514AGXTc.875G= (p.Arg292=)
n.653G=
2g.240877565G>TCA351319136AGXTc.875G>T (p.Arg292Leu)
n.653G>T
gnomAD v4
2g.240877566C>ACA2209327AGXTc.876C>A (p.Arg292=)
n.654C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240877566C=CA1339335515AGXTc.876C= (p.Arg292=)
n.654C=
2g.240877566C>GCA432025377AGXTc.876C>G (p.Arg292=)
n.654C>G
ClinVar dbSNP gnomAD v4
2g.240877566C>TCA2209328AGXTc.876C>T (p.Arg292=)
n.654C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.240877567G>ACA2209329AGXTc.877G>A (p.Glu293Lys)
n.655G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240877567G>CCA68180598AGXTc.877G>C (p.Glu293Gln)
n.655G>C
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.240877567G=CA1339335516AGXTc.877G= (p.Glu293=)
n.655G=
2g.240877567G>TCA351319143AGXTc.877G>T (p.Glu293Ter)
n.655G>T
gnomAD v4
2g.240877568A>CCA351319147AGXTc.878A>C (p.Glu293Ala)
n.656A>C
2g.240877568A>GCA351319148AGXTc.878A>G (p.Glu293Gly)
n.656A>G
2g.240877568A>TCA351319150AGXTc.878A>T (p.Glu293Val)
n.656A>T
2g.240877569G>ACA432025393AGXTc.879G>A (p.Glu293=)
n.657G>A
ClinVar
2g.240877569G>CCA351319151AGXTc.879G>C (p.Glu293Asp)
n.657G>C
2g.240877569G>TCA351319153AGXTc.879G>T (p.Glu293Asp)
n.657G>T
gnomAD v4
2g.240877570G>ACA351319155AGXTc.880G>A (p.Ala294Thr)
n.658G>A
gnomAD v4
2g.240877570G>CCA351319159AGXTc.880G>C (p.Ala294Pro)
n.658G>C
2g.240877570G>TCA351319157AGXTc.880G>T (p.Ala294Ser)
n.658G>T
gnomAD v4
2g.240877571C>ACA351319161AGXTc.881C>A (p.Ala294Asp)
n.659C>A
gnomAD v4
2g.240877571C=CA1339335517AGXTc.881C= (p.Ala294=)
n.659C=
2g.240877571C>GCA351319163AGXTc.881C>G (p.Ala294Gly)
n.659C>G
2g.240877571C>TCA351319165AGXTc.881C>T (p.Ala294Val)
n.659C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.240877572C>ACA432025402AGXTc.882C>A (p.Ala294=)
n.660C>A
2g.240877572C=CA1339335518AGXTc.882C= (p.Ala294=)
n.660C=
2g.240877572C>GCA432025403AGXTc.882C>G (p.Ala294=)
n.660C>G
2g.240877572C>TCA68180601AGXTc.882C>T (p.Ala294=)
n.660C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240877572_240877575delinsCGCGCA1339335519AGXTc.882_885delinsCGCG (p.Ala294=)
n.660_663delinsCGCG

Number of alleles fetched