Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71481936G>ACA1705254DYSFc.202G>A (p.Val68Met)
c.205G>A (p.Val69Met)
n.363G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481936G>CCA1705253DYSFc.202G>C (p.Val68Leu)
c.205G>C (p.Val69Leu)
n.363G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481936G=CA1260062195DYSFc.202G= (p.Val68=)
c.205G= (p.Val69=)
n.363G=
2g.71481936G>TCA347216455DYSFc.202G>T (p.Val68Leu)
c.205G>T (p.Val69Leu)
n.363G>T
2g.71481937T>ACA347216458DYSFc.203T>A (p.Val68Glu)
c.206T>A (p.Val69Glu)
n.364T>A
2g.71481937T>CCA347216461DYSFc.203T>C (p.Val68Ala)
c.206T>C (p.Val69Ala)
n.364T>C
2g.71481937T>GCA347216460DYSFc.203T>G (p.Val68Gly)
c.206T>G (p.Val69Gly)
n.364T>G
2g.71481938G>ACA1705255DYSFc.204G>A (p.Val68=)
c.207G>A (p.Val69=)
n.365G>A
 dbSNP ExAC
2g.71481938G>CCA426699537DYSFc.204G>C (p.Val68=)
c.207G>C (p.Val69=)
n.365G>C
2g.71481938G=CA1260062196DYSFc.204G= (p.Val68=)
c.207G= (p.Val69=)
n.365G=
2g.71481938G>TCA426699538DYSFc.204G>T (p.Val68=)
c.207G>T (p.Val69=)
n.365G>T
2g.71481939G>ACA1705256DYSFc.205G>A (p.Val69Ile)
c.208G>A (p.Val70Ile)
n.366G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481939G>CCA347216464DYSFc.205G>C (p.Val69Leu)
c.208G>C (p.Val70Leu)
n.366G>C
 dbSNP gnomAD v3 gnomAD v4
2g.71481939G=CA1260062197DYSFc.205G= (p.Val69=)
c.208G= (p.Val70=)
n.366G=
2g.71481939G>TCA347216467DYSFc.205G>T (p.Val69Phe)
c.208G>T (p.Val70Phe)
n.366G>T
2g.71481940T>ACA347216470DYSFc.206T>A (p.Val69Asp)
c.209T>A (p.Val70Asp)
n.367T>A
2g.71481940T>CCA347216473DYSFc.206T>C (p.Val69Ala)
c.209T>C (p.Val70Ala)
n.367T>C
2g.71481940T>GCA10604804DYSFc.206T>G (p.Val69Gly)
c.209T>G (p.Val70Gly)
n.367T>G
 ClinVar dbSNP
2g.71481940T=CA1260062198DYSFc.206T= (p.Val69=)
c.209T= (p.Val70=)
n.367T=
2g.71481941C>ACA426699539DYSFc.207C>A (p.Val69=)
c.210C>A (p.Val70=)
n.368C>A
2g.71481941C>GCA426699540DYSFc.207C>G (p.Val69=)
c.210C>G (p.Val70=)
n.368C>G
2g.71481941C>TCA426699541DYSFc.207C>T (p.Val69=)
c.210C>T (p.Val70=)
n.368C>T
2g.71481942A=CA1260062199DYSFc.208A= (p.Lys70=)
c.211A= (p.Lys71=)
n.369A=
2g.71481942A>CCA347216475DYSFc.208A>C (p.Lys70Gln)
c.211A>C (p.Lys71Gln)
n.369A>C
2g.71481942A>GCA49751124DYSFc.208A>G (p.Lys70Glu)
c.211A>G (p.Lys71Glu)
n.369A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71481942A>TCA347216476DYSFc.208A>T (p.Lys70Ter)
c.211A>T (p.Lys71Ter)
n.369A>T
2g.71481943A>CCA347216478DYSFc.209A>C (p.Lys70Thr)
c.212A>C (p.Lys71Thr)
n.370A>C
2g.71481943A>GCA347216480DYSFc.209A>G (p.Lys70Arg)
c.212A>G (p.Lys71Arg)
n.370A>G
2g.71481943A>TCA347216481DYSFc.209A>T (p.Lys70Ile)
c.212A>T (p.Lys71Ile)
n.370A>T
2g.71481944A>CCA347216484DYSFc.210A>C (p.Lys70Asn)
c.213A>C (p.Lys71Asn)
n.371A>C
2g.71481944A>GCA426699542DYSFc.210A>G (p.Lys70=)
c.213A>G (p.Lys71=)
n.371A>G
2g.71481944A>TCA347216485DYSFc.210A>T (p.Lys70Asn)
c.213A>T (p.Lys71Asn)
n.371A>T
2g.71481945G>ACA347216487DYSFc.211G>A (p.Asp71Asn)
c.214G>A (p.Asp72Asn)
n.372G>A
2g.71481945G>CCA347216489DYSFc.211G>C (p.Asp71His)
c.214G>C (p.Asp72His)
n.372G>C
2g.71481945G>TCA347216491DYSFc.211G>T (p.Asp71Tyr)
c.214G>T (p.Asp72Tyr)
n.372G>T
2g.71481946A>CCA347216498DYSFc.212A>C (p.Asp71Ala)
c.215A>C (p.Asp72Ala)
n.373A>C
2g.71481946A>GCA347216494DYSFc.212A>G (p.Asp71Gly)
c.215A>G (p.Asp72Gly)
n.373A>G
2g.71481946A>TCA347216496DYSFc.212A>T (p.Asp71Val)
c.215A>T (p.Asp72Val)
n.373A>T
2g.71481947C>ACA347216500DYSFc.213C>A (p.Asp71Glu)
c.216C>A (p.Asp72Glu)
n.374C>A
2g.71481947C=CA1260062200DYSFc.213C= (p.Asp71=)
c.216C= (p.Asp72=)
n.374C=
2g.71481947C>GCA347216501DYSFc.213C>G (p.Asp71Glu)
c.216C>G (p.Asp72Glu)
n.374C>G
2g.71481947C>TCA426699543DYSFc.213C>T (p.Asp71=)
c.216C>T (p.Asp72=)
n.374C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71481948C>ACA347216503DYSFc.214C>A (p.His72Asn)
c.217C>A (p.His73Asn)
n.375C>A
2g.71481948C>GCA347216504DYSFc.214C>G (p.His72Asp)
c.217C>G (p.His73Asp)
n.375C>G
2g.71481948C>TCA347216506DYSFc.214C>T (p.His72Tyr)
c.217C>T (p.His73Tyr)
n.375C>T
2g.71481949A=CA1260062201DYSFc.215A= (p.His72=)
c.218A= (p.His73=)
n.376A=
2g.71481949A>CCA347216508DYSFc.215A>C (p.His72Pro)
c.218A>C (p.His73Pro)
n.376A>C
2g.71481949A>GCA1705257DYSFc.215A>G (p.His72Arg)
c.218A>G (p.His73Arg)
n.376A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71481949A>TCA347216513DYSFc.215A>T (p.His72Leu)
c.218A>T (p.His73Leu)
n.376A>T
2g.71481950T>ACA347216514DYSFc.216T>A (p.His72Gln)
c.219T>A (p.His73Gln)
n.377T>A

Number of alleles fetched