Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71511847G>ACA147747DYSFc.383G>A (p.Gly128Glu)
c.386G>A (p.Gly129Glu)
n.544G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71511847G>CCA347205449DYSFc.383G>C (p.Gly128Ala)
c.386G>C (p.Gly129Ala)
n.544G>C
2g.71511847G=CA1260076362DYSFc.383G= (p.Gly128=)
c.386G= (p.Gly129=)
n.544G=
2g.71511847G>TCA347205450DYSFc.383G>T (p.Gly128Val)
c.386G>T (p.Gly129Val)
n.544G>T
 gnomAD v4
2g.71511848A=CA1260076363DYSFc.384A= (p.Gly128=)
c.387A= (p.Gly129=)
n.545A=
2g.71511848A>CCA426697406DYSFc.384A>C (p.Gly128=)
c.387A>C (p.Gly129=)
n.545A>C
2g.71511848A>GCA426697410DYSFc.384A>G (p.Gly128=)
c.387A>G (p.Gly129=)
n.545A>G
 dbSNP gnomAD v3 gnomAD v4
2g.71511848A>TCA426697411DYSFc.384A>T (p.Gly128=)
c.387A>T (p.Gly129=)
n.545A>T
 gnomAD v4
2g.71511849G>ACA347205451DYSFc.385G>A (p.Ala129Thr)
c.388G>A (p.Ala130Thr)
n.546G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511849G>CCA347205453DYSFc.385G>C (p.Ala129Pro)
c.388G>C (p.Ala130Pro)
n.546G>C
 gnomAD v4
2g.71511849G=CA1260076364DYSFc.385G= (p.Ala129=)
c.388G= (p.Ala130=)
n.546G=
2g.71511849G>TCA347205452DYSFc.385G>T (p.Ala129Ser)
c.388G>T (p.Ala130Ser)
n.546G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511850delCA2739274508DYSFc.386del (p.Ala129ValfsTer22)
c.389del (p.Ala130ValfsTer22)
n.547del
 ClinVar
2g.71511850C>ACA347205454DYSFc.386C>A (p.Ala129Asp)
c.389C>A (p.Ala130Asp)
n.547C>A
 gnomAD v4
2g.71511850C=CA1260076365DYSFc.386C= (p.Ala129=)
c.389C= (p.Ala130=)
n.547C=
2g.71511850C>GCA347205455DYSFc.386C>G (p.Ala129Gly)
c.389C>G (p.Ala130Gly)
n.547C>G
 gnomAD v4
2g.71511850C>TCA347205456DYSFc.386C>T (p.Ala129Val)
c.389C>T (p.Ala130Val)
n.547C>T
 dbSNP gnomAD v2 gnomAD v4
2g.71511851T>ACA426697421DYSFc.387T>A (p.Ala129=)
c.390T>A (p.Ala130=)
n.548T>A
 gnomAD v4
2g.71511851T>CCA426697422DYSFc.387T>C (p.Ala129=)
c.390T>C (p.Ala130=)
n.548T>C
 gnomAD v4
2g.71511851T>GCA426697423DYSFc.387T>G (p.Ala129=)
c.390T>G (p.Ala130=)
n.548T>G
2g.71511852G>ACA347205457DYSFc.388G>A (p.Val130Met)
c.391G>A (p.Val131Met)
n.549G>A
 gnomAD v4
2g.71511852G>CCA347205458DYSFc.388G>C (p.Val130Leu)
c.391G>C (p.Val131Leu)
n.549G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511852G=CA1260076366DYSFc.388G= (p.Val130=)
c.391G= (p.Val131=)
n.549G=
2g.71511852G>TCA347205459DYSFc.388G>T (p.Val130Leu)
c.391G>T (p.Val131Leu)
n.549G>T
2g.71511853T>ACA347205460DYSFc.389T>A (p.Val130Glu)
c.392T>A (p.Val131Glu)
n.550T>A
2g.71511853T>CCA347205461DYSFc.389T>C (p.Val130Ala)
c.392T>C (p.Val131Ala)
n.550T>C
 gnomAD v4
2g.71511853T>GCA347205462DYSFc.389T>G (p.Val130Gly)
c.392T>G (p.Val131Gly)
n.550T>G
2g.71511854G>ACA426697442DYSFc.390G>A (p.Val130=)
c.393G>A (p.Val131=)
n.551G>A
 gnomAD v4
2g.71511854G>CCA426697447DYSFc.390G>C (p.Val130=)
c.393G>C (p.Val131=)
n.551G>C
2g.71511854G>TCA426697444DYSFc.390G>T (p.Val130=)
c.393G>T (p.Val131=)
n.551G>T
 gnomAD v4 COSMIC COSMIC
2g.71511854_71511856delinsGCCCA1260076367DYSFc.390_392delinsGCC (p.Val130=)
c.393_395delinsGCC (p.Val131=)
n.551_553delinsGCC
2g.71511855C>ACA347205464DYSFc.391C>A (p.Pro131Thr)
c.394C>A (p.Pro132Thr)
n.552C>A
 dbSNP gnomAD v2 gnomAD v4
2g.71511855C=CA1260076368DYSFc.391C= (p.Pro131=)
c.394C= (p.Pro132=)
n.552C=
2g.71511855C>GCA347205465DYSFc.391C>G (p.Pro131Ala)
c.394C>G (p.Pro132Ala)
n.552C>G
2g.71511855C>TCA347205463DYSFc.391C>T (p.Pro131Ser)
c.394C>T (p.Pro132Ser)
n.552C>T
 dbSNP gnomAD v2 gnomAD v4
2g.71511857_71511858delCA222160DYSFc.393_394del (p.Leu132ValfsTer15)
c.396_397del (p.Leu133ValfsTer15)
n.554_555del
 ClinVar dbSNP
2g.71511856C>ACA347205466DYSFc.392C>A (p.Pro131His)
c.395C>A (p.Pro132His)
n.553C>A
 gnomAD v4
2g.71511856C=CA1260076369DYSFc.392C= (p.Pro131=)
c.395C= (p.Pro132=)
n.553C=
2g.71511856C>GCA1705343DYSFc.392C>G (p.Pro131Arg)
c.395C>G (p.Pro132Arg)
n.553C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71511856C>TCA347205467DYSFc.392C>T (p.Pro131Leu)
c.395C>T (p.Pro132Leu)
n.553C>T
 gnomAD v4
2g.71511857C>ACA426697474DYSFc.393C>A (p.Pro131=)
c.396C>A (p.Pro132=)
n.554C>A
2g.71511857C=CA1260076370DYSFc.393C= (p.Pro131=)
c.396C= (p.Pro132=)
n.554C=
2g.71511857C>GCA426697478DYSFc.393C>G (p.Pro131=)
c.396C>G (p.Pro132=)
n.554C>G
2g.71511857C>TCA147749DYSFc.393C>T (p.Pro131=)
c.396C>T (p.Pro132=)
n.554C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71511858C>ACA347205469DYSFc.394C>A (p.Leu132Met)
c.397C>A (p.Leu133Met)
n.555C>A
 gnomAD v4
2g.71511858C=CA1260076371DYSFc.394C= (p.Leu132=)
c.397C= (p.Leu133=)
n.555C=
2g.71511858C>GCA347205468DYSFc.394C>G (p.Leu132Val)
c.397C>G (p.Leu133Val)
n.555C>G
2g.71511858C>TCA10604985DYSFc.394C>T (p.Leu132=)
c.397C>T (p.Leu133=)
n.555C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511859T>ACA347205470DYSFc.395T>A (p.Leu132Gln)
c.398T>A (p.Leu133Gln)
n.556T>A
 gnomAD v4
2g.71511859T>CCA347205471DYSFc.395T>C (p.Leu132Pro)
c.398T>C (p.Leu133Pro)
n.556T>C
 gnomAD v4

Number of alleles fetched