Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54625917C>ACA370992582RP1c.2035C>A (p.Gln679Lys)
c.787+3629C>A (n.787+3629C>A)
c.2056C>A (p.Gln686Lys)
8g.54625917C=CA1785188085RP1c.2035C= (p.Gln679=)
c.787+3629C= (n.787+3629C=)
c.2056C= (p.Gln686=)
8g.54625917C>GCA370992583RP1c.2035C>G (p.Gln679Glu)
c.787+3629C>G (n.787+3629C>G)
c.2056C>G (p.Gln686Glu)
8g.54625917C>TCA253667RP1c.2035C>T (p.Gln679Ter)
c.787+3629C>T (n.787+3629C>T)
c.2056C>T (p.Gln686Ter)
 ClinVar dbSNP
8g.54625918A>CCA370992584RP1c.2036A>C (p.Gln679Pro)
c.787+3630A>C (n.787+3630A>C)
c.2057A>C (p.Gln686Pro)
8g.54625918A>GCA370992585RP1c.2036A>G (p.Gln679Arg)
c.787+3630A>G (n.787+3630A>G)
c.2057A>G (p.Gln686Arg)
8g.54625918A>TCA370992586RP1c.2036A>T (p.Gln679Leu)
c.787+3630A>T (n.787+3630A>T)
c.2057A>T (p.Gln686Leu)
 gnomAD v4
8g.54625919delCA2580078490RP1c.2037del (p.Ala680GlnfsTer2)
c.787+3631del (n.787+3631del)
c.2058del (p.Ala687GlnfsTer2)
 ClinVar
8g.54625919A>CCA370992588RP1c.2037A>C (p.Gln679His)
c.787+3631A>C (n.787+3631A>C)
c.2058A>C (p.Gln686His)
8g.54625919A>GCA461098774RP1c.2037A>G (p.Gln679=)
c.787+3631A>G (n.787+3631A>G)
c.2058A>G (p.Gln686=)
8g.54625919A>TCA370992587RP1c.2037A>T (p.Gln679His)
c.787+3631A>T (n.787+3631A>T)
c.2058A>T (p.Gln686His)
8g.54625920G>ACA370992589RP1c.2038G>A (p.Ala680Thr)
c.787+3632G>A (n.787+3632G>A)
c.2059G>A (p.Ala687Thr)
 gnomAD v4
8g.54625920G>CCA370992590RP1c.2038G>C (p.Ala680Pro)
c.787+3632G>C (n.787+3632G>C)
c.2059G>C (p.Ala687Pro)
8g.54625920G>TCA370992591RP1c.2038G>T (p.Ala680Ser)
c.787+3632G>T (n.787+3632G>T)
c.2059G>T (p.Ala687Ser)
8g.54625921C>ACA370992592RP1c.2039C>A (p.Ala680Glu)
c.787+3633C>A (n.787+3633C>A)
c.2060C>A (p.Ala687Glu)
8g.54625921C=CA1785188086RP1c.2039C= (p.Ala680=)
c.787+3633C= (n.787+3633C=)
c.2060C= (p.Ala687=)
8g.54625921C>GCA370992593RP1c.2039C>G (p.Ala680Gly)
c.787+3633C>G (n.787+3633C>G)
c.2060C>G (p.Ala687Gly)
8g.54625921C>TCA370992594RP1c.2039C>T (p.Ala680Val)
c.787+3633C>T (n.787+3633C>T)
c.2060C>T (p.Ala687Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.54625922A>CCA461098777RP1c.2040A>C (p.Ala680=)
c.787+3634A>C (n.787+3634A>C)
c.2061A>C (p.Ala687=)
8g.54625922A>GCA461098778RP1c.2040A>G (p.Ala680=)
c.787+3634A>G (n.787+3634A>G)
c.2061A>G (p.Ala687=)
8g.54625922A>TCA461098779RP1c.2040A>T (p.Ala680=)
c.787+3634A>T (n.787+3634A>T)
c.2061A>T (p.Ala687=)
8g.54625923dupCA461098776RP1c.2041dup (p.Ile681AsnfsTer17)
c.787+3635dup (n.787+3635dup)
c.2062dup (p.Ile688AsnfsTer17)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54625923A=CA1785188088RP1c.2041A= (p.Ile681=)
c.787+3635A= (n.787+3635A=)
c.2062A= (p.Ile688=)
8g.54625923A>CCA370992596RP1c.2041A>C (p.Ile681Leu)
c.787+3635A>C (n.787+3635A>C)
c.2062A>C (p.Ile688Leu)
 COSMIC
8g.54625923A>GCA4751471RP1c.2041A>G (p.Ile681Val)
c.787+3635A>G (n.787+3635A>G)
c.2062A>G (p.Ile688Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54625923A>TCA370992595RP1c.2041A>T (p.Ile681Leu)
c.787+3635A>T (n.787+3635A>T)
c.2062A>T (p.Ile688Leu)
8g.54625923_54625924delinsATCA1785188087RP1c.2041_2042delinsAT (p.Ile681=)
c.787+3635_787+3636delinsAT (n.787+3635_787+3636delinsAT)
c.2062_2063delinsAT (p.Ile688=)
8g.54625924T>ACA177236998RP1c.2042T>A (p.Ile681Lys)
c.787+3636T>A (n.787+3636T>A)
c.2063T>A (p.Ile688Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54625924T>CCA370992597RP1c.2042T>C (p.Ile681Thr)
c.787+3636T>C (n.787+3636T>C)
c.2063T>C (p.Ile688Thr)
8g.54625924T>GCA370992598RP1c.2042T>G (p.Ile681Arg)
c.787+3636T>G (n.787+3636T>G)
c.2063T>G (p.Ile688Arg)
8g.54625924T=CA1785188089RP1c.2042T= (p.Ile681=)
c.787+3636T= (n.787+3636T=)
c.2063T= (p.Ile688=)
8g.54625924delinsAACA1139660530RP1c.2042delinsAA (p.Ile681LysfsTer17)
c.787+3636delinsAA (n.787+3636delinsAA)
c.2063delinsAA (p.Ile688LysfsTer17)
 ClinVar dbSNP
8g.54625925A>CCA461098783RP1c.2043A>C (p.Ile681=)
c.787+3637A>C (n.787+3637A>C)
c.2064A>C (p.Ile688=)
8g.54625925A>GCA370992599RP1c.2043A>G (p.Ile681Met)
c.787+3637A>G (n.787+3637A>G)
c.2064A>G (p.Ile688Met)
8g.54625925A>TCA461098782RP1c.2043A>T (p.Ile681=)
c.787+3637A>T (n.787+3637A>T)
c.2064A>T (p.Ile688=)
8g.54625926A>CCA370992600RP1c.2044A>C (p.Asn682His)
c.787+3638A>C (n.787+3638A>C)
c.2065A>C (p.Asn689His)
8g.54625926A>GCA370992601RP1c.2044A>G (p.Asn682Asp)
c.787+3638A>G (n.787+3638A>G)
c.2065A>G (p.Asn689Asp)
8g.54625926A>TCA370992602RP1c.2044A>T (p.Asn682Tyr)
c.787+3638A>T (n.787+3638A>T)
c.2065A>T (p.Asn689Tyr)
8g.54625927A=CA1785188090RP1c.2045A= (p.Asn682=)
c.787+3639A= (n.787+3639A=)
c.2066A= (p.Asn689=)
8g.54625927A>CCA370992603RP1c.2045A>C (p.Asn682Thr)
c.787+3639A>C (n.787+3639A>C)
c.2066A>C (p.Asn689Thr)
 dbSNP
8g.54625927A>GCA370992604RP1c.2045A>G (p.Asn682Ser)
c.787+3639A>G (n.787+3639A>G)
c.2066A>G (p.Asn689Ser)
8g.54625927A>TCA370992605RP1c.2045A>T (p.Asn682Ile)
c.787+3639A>T (n.787+3639A>T)
c.2066A>T (p.Asn689Ile)
8g.54625928T>ACA370992606RP1c.2046T>A (p.Asn682Lys)
c.787+3640T>A (n.787+3640T>A)
c.2067T>A (p.Asn689Lys)
8g.54625928T>CCA461098785RP1c.2046T>C (p.Asn682=)
c.787+3640T>C (n.787+3640T>C)
c.2067T>C (p.Asn689=)
 gnomAD v4
8g.54625928T>GCA370992607RP1c.2046T>G (p.Asn682Lys)
c.787+3640T>G (n.787+3640T>G)
c.2067T>G (p.Asn689Lys)
8g.54625929T>ACA370992608RP1c.2047T>A (p.Ser683Thr)
c.787+3641T>A (n.787+3641T>A)
c.2068T>A (p.Ser690Thr)
 ClinVar dbSNP
8g.54625929T>CCA370992610RP1c.2047T>C (p.Ser683Pro)
c.787+3641T>C (n.787+3641T>C)
c.2068T>C (p.Ser690Pro)
8g.54625929T>GCA370992609RP1c.2047T>G (p.Ser683Ala)
c.787+3641T>G (n.787+3641T>G)
c.2068T>G (p.Ser690Ala)
8g.54625930C>ACA370992611RP1c.2048C>A (p.Ser683Tyr)
c.787+3642C>A (n.787+3642C>A)
c.2069C>A (p.Ser690Tyr)
 gnomAD v4
8g.54625930C>GCA370992612RP1c.2048C>G (p.Ser683Cys)
c.787+3642C>G (n.787+3642C>G)
c.2069C>G (p.Ser690Cys)

Number of alleles fetched