Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.80104734_80107789delCA658795223GAAc.148_859-11del
ClinVar
17g.80105869_80105870delinsTACA2499224999GAAc.667_668delinsTA (p.Arg223Tyr)
ClinVar dbSNP
17g.80105870G>ACA145791GAAc.668G>A (p.Arg223His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105870G>CCA401362510GAAc.668G>C (p.Arg223Pro)
dbSNP gnomAD v4
17g.80105870G=CA2277811286GAAc.668G= (p.Arg223=)
17g.80105870G>TCA401362512GAAc.668G>T (p.Arg223Leu)
gnomAD v4
17g.80105871C>ACA502177657GAAc.669C>A (p.Arg223=)
17g.80105871C>GCA502177658GAAc.669C>G (p.Arg223=)
17g.80105871C>TCA502177659GAAc.669C>T (p.Arg223=)
gnomAD v4
17g.80105872C>ACA502177660GAAc.670C>A (p.Arg224=)
17g.80105872C=CA2277811287GAAc.670C= (p.Arg224=)
17g.80105872C>GCA401362516GAAc.670C>G (p.Arg224Gly)
gnomAD v4
17g.80105872C>TCA274477GAAc.670C>T (p.Arg224Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105873G>ACA8814958GAAc.671G>A (p.Arg224Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105873G>CCA401362527GAAc.671G>C (p.Arg224Pro)
ClinVar dbSNP gnomAD v2
17g.80105873G=CA2277811288GAAc.671G= (p.Arg224=)
17g.80105873G>TCA401362528GAAc.671G>T (p.Arg224Leu)
ClinVar
17g.80105874G>ACA502177661GAAc.672G>A (p.Arg224=)
gnomAD v4
17g.80105874G>CCA502177663GAAc.672G>C (p.Arg224=)
17g.80105874G>TCA502177662GAAc.672G>T (p.Arg224=)
gnomAD v4
17g.80105875C>ACA401362531GAAc.673C>A (p.Gln225Lys)
gnomAD v4
17g.80105875C>GCA401362532GAAc.673C>G (p.Gln225Glu)
17g.80105875C>TCA401362533GAAc.673C>T (p.Gln225Ter)
gnomAD v4
17g.80105876A>CCA401362534GAAc.674A>C (p.Gln225Pro)
17g.80105876A>GCA401362535GAAc.674A>G (p.Gln225Arg)
17g.80105876A>TCA401362536GAAc.674A>T (p.Gln225Leu)
17g.80105877G>ACA502177664GAAc.675G>A (p.Gln225=)
17g.80105877G>CCA401362538GAAc.675G>C (p.Gln225His)
17g.80105877G>TCA401362539GAAc.675G>T (p.Gln225His)
gnomAD v4
17g.80105878C>ACA401362541GAAc.676C>A (p.Leu226Met)
gnomAD v4
17g.80105878C=CA2277811289GAAc.676C= (p.Leu226=)
17g.80105878C>GCA198772GAAc.676C>G (p.Leu226Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105878C>TCA502177665GAAc.676C>T (p.Leu226=)
gnomAD v4
17g.80105879T>ACA401362557GAAc.677T>A (p.Leu226Gln)
17g.80105879T>CCA8814959GAAc.677T>C (p.Leu226Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80105879T>GCA401362545GAAc.677T>G (p.Leu226Arg)
17g.80105879T=CA2277811290GAAc.677T= (p.Leu226=)
17g.80105880G>ACA502177666GAAc.678G>A (p.Leu226=)
dbSNP gnomAD v2 gnomAD v4
17g.80105880G>CCA502177667GAAc.678G>C (p.Leu226=)
17g.80105880G=CA2277811291GAAc.678G= (p.Leu226=)
17g.80105880G>TCA502177668GAAc.678G>T (p.Leu226=)
ClinVar gnomAD v4
17g.80105881G>ACA401362563GAAc.679G>A (p.Asp227Asn)
gnomAD v4
17g.80105881G>CCA401362559GAAc.679G>C (p.Asp227His)
17g.80105881G=CA2277811292GAAc.679G= (p.Asp227=)
17g.80105881G>TCA401362561GAAc.679G>T (p.Asp227Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80105882A>CCA401362565GAAc.680A>C (p.Asp227Ala)
17g.80105882A>GCA401362568GAAc.680A>G (p.Asp227Gly)
gnomAD v4
17g.80105882A>TCA401362571GAAc.680A>T (p.Asp227Val)
17g.80105883delCA2640278262GAAc.681del (p.Asp227GlufsTer6)
gnomAD v4
17g.80105883C>ACA401362576GAAc.681C>A (p.Asp227Glu)

Number of alleles fetched