Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.42249544_42249546delinsTACCA2336849519ERFc.566_568delinsGTA (p.Cys189=)
c.341_343delinsGTA (p.Cys114=)
c.22+5432_22+5434delinsGTA (n.22+5432_22+5434delinsGTA)
n.539_541delinsGTA
19g.42249546_42249547delCA658799234ERFc.566_567del (p.Cys189Ter)
c.341_342del (p.Cys114Ter)
c.22+5432_22+5433del (n.22+5432_22+5433del)
n.539_540del
 ClinVar dbSNP
19g.42249546C>ACA406112676ERFc.566G>T (p.Cys189Phe)
c.341G>T (p.Cys114Phe)
c.22+5432G>T (n.22+5432G>T)
n.539G>T
19g.42249546C>GCA406112679ERFc.566G>C (p.Cys189Ser)
c.341G>C (p.Cys114Ser)
c.22+5432G>C (n.22+5432G>C)
n.539G>C
19g.42249546C>TCA406112682ERFc.566G>A (p.Cys189Tyr)
c.341G>A (p.Cys114Tyr)
c.22+5432G>A (n.22+5432G>A)
n.539G>A
19g.42249547A=CA2336849520ERFc.565T= (p.Cys189=)
c.340T= (p.Cys114=)
c.22+5431T= (n.22+5431T=)
n.538T=
19g.42249547A>CCA406112685ERFc.565T>G (p.Cys189Gly)
c.340T>G (p.Cys114Gly)
c.22+5431T>G (n.22+5431T>G)
n.538T>G
 ClinVar dbSNP
19g.42249547A>GCA406112691ERFc.565T>C (p.Cys189Arg)
c.340T>C (p.Cys114Arg)
c.22+5431T>C (n.22+5431T>C)
n.538T>C
19g.42249547A>TCA406112694ERFc.565T>A (p.Cys189Ser)
c.340T>A (p.Cys114Ser)
c.22+5431T>A (n.22+5431T>A)
n.538T>A
 dbSNP
19g.42249548G>ACA507700389ERFc.564C>T (p.Asp188=)
c.339C>T (p.Asp113=)
c.22+5430C>T (n.22+5430C>T)
n.537C>T
 gnomAD v4
19g.42249548G>CCA406112699ERFc.564C>G (p.Asp188Glu)
c.339C>G (p.Asp113Glu)
c.22+5430C>G (n.22+5430C>G)
n.537C>G
19g.42249548G>TCA406112702ERFc.564C>A (p.Asp188Glu)
c.339C>A (p.Asp113Glu)
c.22+5430C>A (n.22+5430C>A)
n.537C>A
19g.42249549T>ACA406112707ERFc.563A>T (p.Asp188Val)
c.338A>T (p.Asp113Val)
c.22+5429A>T (n.22+5429A>T)
n.536A>T
19g.42249549T>CCA406112710ERFc.563A>G (p.Asp188Gly)
c.338A>G (p.Asp113Gly)
c.22+5429A>G (n.22+5429A>G)
n.536A>G
19g.42249549T>GCA406112715ERFc.563A>C (p.Asp188Ala)
c.338A>C (p.Asp113Ala)
c.22+5429A>C (n.22+5429A>C)
n.536A>C
19g.42249550C>ACA406112725ERFc.562G>T (p.Asp188Tyr)
c.337G>T (p.Asp113Tyr)
c.22+5428G>T (n.22+5428G>T)
n.535G>T
19g.42249550C=CA2336849521ERFc.562G= (p.Asp188=)
c.337G= (p.Asp113=)
c.22+5428G= (n.22+5428G=)
n.535G=
19g.42249550C>GCA406112718ERFc.562G>C (p.Asp188His)
c.337G>C (p.Asp113His)
c.22+5428G>C (n.22+5428G>C)
n.535G>C
19g.42249550C>TCA406112721ERFc.562G>A (p.Asp188Asn)
c.337G>A (p.Asp113Asn)
c.22+5428G>A (n.22+5428G>A)
n.535G>A
 dbSNP gnomAD v3 gnomAD v4
19g.42249551A>CCA406112731ERFc.561T>G (p.Ser187Arg)
c.336T>G (p.Ser112Arg)
c.22+5427T>G (n.22+5427T>G)
n.534T>G
19g.42249551A>GCA507700395ERFc.561T>C (p.Ser187=)
c.336T>C (p.Ser112=)
c.22+5427T>C (n.22+5427T>C)
n.534T>C
19g.42249551A>TCA406112734ERFc.561T>A (p.Ser187Arg)
c.336T>A (p.Ser112Arg)
c.22+5427T>A (n.22+5427T>A)
n.534T>A
19g.42249552C>ACA406112749ERFc.560G>T (p.Ser187Ile)
c.335G>T (p.Ser112Ile)
c.22+5426G>T (n.22+5426G>T)
n.533G>T
19g.42249552C>GCA406112751ERFc.560G>C (p.Ser187Thr)
c.335G>C (p.Ser112Thr)
c.22+5426G>C (n.22+5426G>C)
n.533G>C
19g.42249552C>TCA406112754ERFc.560G>A (p.Ser187Asn)
c.335G>A (p.Ser112Asn)
c.22+5426G>A (n.22+5426G>A)
n.533G>A
19g.42249553T>ACA406112755ERFc.559A>T (p.Ser187Cys)
c.334A>T (p.Ser112Cys)
c.22+5425A>T (n.22+5425A>T)
n.532A>T
19g.42249553T>CCA406112756ERFc.559A>G (p.Ser187Gly)
c.334A>G (p.Ser112Gly)
c.22+5425A>G (n.22+5425A>G)
n.532A>G
 gnomAD v4
19g.42249553T>GCA406112757ERFc.559A>C (p.Ser187Arg)
c.334A>C (p.Ser112Arg)
c.22+5425A>C (n.22+5425A>C)
n.532A>C
19g.42249554G>ACA507700405ERFc.558C>T (p.Val186=)
c.333C>T (p.Val111=)
c.22+5424C>T (n.22+5424C>T)
n.531C>T
19g.42249554G>CCA507700404ERFc.558C>G (p.Val186=)
c.333C>G (p.Val111=)
c.22+5424C>G (n.22+5424C>G)
n.531C>G
19g.42249554G>TCA507700403ERFc.558C>A (p.Val186=)
c.333C>A (p.Val111=)
c.22+5424C>A (n.22+5424C>A)
n.531C>A
19g.42249555A>CCA406112759ERFc.557T>G (p.Val186Gly)
c.332T>G (p.Val111Gly)
c.22+5423T>G (n.22+5423T>G)
n.530T>G
19g.42249555A>GCA406112761ERFc.557T>C (p.Val186Ala)
c.332T>C (p.Val111Ala)
c.22+5423T>C (n.22+5423T>C)
n.530T>C
19g.42249555A>TCA406112763ERFc.557T>A (p.Val186Asp)
c.332T>A (p.Val111Asp)
c.22+5423T>A (n.22+5423T>A)
n.530T>A
19g.42249556C>ACA406112769ERFc.556G>T (p.Val186Phe)
c.331G>T (p.Val111Phe)
c.22+5422G>T (n.22+5422G>T)
n.529G>T
19g.42249556C>GCA406112772ERFc.556G>C (p.Val186Leu)
c.331G>C (p.Val111Leu)
c.22+5422G>C (n.22+5422G>C)
n.529G>C
19g.42249556C>TCA406112767ERFc.556G>A (p.Val186Ile)
c.331G>A (p.Val111Ile)
c.22+5422G>A (n.22+5422G>A)
n.529G>A
19g.42249557T>ACA9471375ERFc.555A>T (p.Ser185=)
c.330A>T (p.Ser110=)
c.22+5421A>T (n.22+5421A>T)
n.528A>T
 dbSNP ExAC gnomAD v4
19g.42249557T>CCA507700409ERFc.555A>G (p.Ser185=)
c.330A>G (p.Ser110=)
c.22+5421A>G (n.22+5421A>G)
n.528A>G
19g.42249557T>GCA507700410ERFc.555A>C (p.Ser185=)
c.330A>C (p.Ser110=)
c.22+5421A>C (n.22+5421A>C)
n.528A>C
19g.42249557T=CA2336849522ERFc.555A= (p.Ser185=)
c.330A= (p.Ser110=)
c.22+5421A= (n.22+5421A=)
n.528A=
19g.42249558G>ACA406112779ERFc.554C>T (p.Ser185Leu)
c.329C>T (p.Ser110Leu)
c.22+5420C>T (n.22+5420C>T)
n.527C>T
19g.42249558G>CCA406112782ERFc.554C>G (p.Ser185Ter)
c.329C>G (p.Ser110Ter)
c.22+5420C>G (n.22+5420C>G)
n.527C>G
19g.42249558G>TCA406112784ERFc.554C>A (p.Ser185Ter)
c.329C>A (p.Ser110Ter)
c.22+5420C>A (n.22+5420C>A)
n.527C>A
19g.42249559A>CCA406112786ERFc.553T>G (p.Ser185Ala)
c.328T>G (p.Ser110Ala)
c.22+5419T>G (n.22+5419T>G)
n.526T>G
19g.42249559A>GCA406112789ERFc.553T>C (p.Ser185Pro)
c.328T>C (p.Ser110Pro)
c.22+5419T>C (n.22+5419T>C)
n.526T>C
19g.42249559A>TCA406112792ERFc.553T>A (p.Ser185Thr)
c.328T>A (p.Ser110Thr)
c.22+5419T>A (n.22+5419T>A)
n.526T>A
19g.42249560G>ACA507700415ERFc.552C>T (p.Gly184=)
c.327C>T (p.Gly109=)
c.22+5418C>T (n.22+5418C>T)
n.525C>T
19g.42249560G>CCA507700417ERFc.552C>G (p.Gly184=)
c.327C>G (p.Gly109=)
c.22+5418C>G (n.22+5418C>G)
n.525C>G
19g.42249560G>TCA507700416ERFc.552C>A (p.Gly184=)
c.327C>A (p.Gly109=)
c.22+5418C>A (n.22+5418C>A)
n.525C>A
19g.42249561C>ACA406112795ERFc.551G>T (p.Gly184Val)
c.326G>T (p.Gly109Val)
c.22+5417G>T (n.22+5417G>T)
n.524G>T
19g.42249561C>GCA406112798ERFc.551G>C (p.Gly184Ala)
c.326G>C (p.Gly109Ala)
c.22+5417G>C (n.22+5417G>C)
n.524G>C
19g.42249561C>TCA406112802ERFc.551G>A (p.Gly184Asp)
c.326G>A (p.Gly109Asp)
c.22+5417G>A (n.22+5417G>A)
n.524G>A
19g.42249562C>ACA406112806ERFc.550G>T (p.Gly184Cys)
c.325G>T (p.Gly109Cys)
c.22+5416G>T (n.22+5416G>T)
n.523G>T
19g.42249562C>GCA406112808ERFc.550G>C (p.Gly184Arg)
c.325G>C (p.Gly109Arg)
c.22+5416G>C (n.22+5416G>C)
n.523G>C
19g.42249562C>TCA406112811ERFc.550G>A (p.Gly184Ser)
c.325G>A (p.Gly109Ser)
c.22+5416G>A (n.22+5416G>A)
n.523G>A
19g.42249563T>ACA507700421ERFc.549A>T (p.Arg183=)
c.324A>T (p.Arg108=)
c.22+5415A>T (n.22+5415A>T)
n.522A>T
19g.42249563T>CCA507700422ERFc.549A>G (p.Arg183=)
c.324A>G (p.Arg108=)
c.22+5415A>G (n.22+5415A>G)
n.522A>G
19g.42249563T>GCA507700423ERFc.549A>C (p.Arg183=)
c.324A>C (p.Arg108=)
c.22+5415A>C (n.22+5415A>C)
n.522A>C
19g.42249564C>ACA406112820ERFc.548G>T (p.Arg183Leu)
c.323G>T (p.Arg108Leu)
c.22+5414G>T (n.22+5414G>T)
n.521G>T
19g.42249564C=CA2336849523ERFc.548G= (p.Arg183=)
c.323G= (p.Arg108=)
c.22+5414G= (n.22+5414G=)
n.521G=
19g.42249564C>GCA406112817ERFc.548G>C (p.Arg183Pro)
c.323G>C (p.Arg108Pro)
c.22+5414G>C (n.22+5414G>C)
n.521G>C
19g.42249564C>TCA406112815ERFc.548G>A (p.Arg183Gln)
c.323G>A (p.Arg108Gln)
c.22+5414G>A (n.22+5414G>A)
n.521G>A
 dbSNP gnomAD v2 gnomAD v4
19g.42249565G>ACA249528ERFc.547C>T (p.Arg183Ter)
c.322C>T (p.Arg108Ter)
c.22+5413C>T (n.22+5413C>T)
n.520C>T
 ClinVar dbSNP gnomAD v4
19g.42249565G>CCA406112825ERFc.547C>G (p.Arg183Gly)
c.322C>G (p.Arg108Gly)
c.22+5413C>G (n.22+5413C>G)
n.520C>G
 dbSNP gnomAD v2 gnomAD v4
19g.42249565G=CA2336849524ERFc.547C= (p.Arg183=)
c.322C= (p.Arg108=)
c.22+5413C= (n.22+5413C=)
n.520C=
19g.42249565G>TCA507700428ERFc.547C>A (p.Arg183=)
c.322C>A (p.Arg108=)
c.22+5413C>A (n.22+5413C>A)
n.520C>A
19g.42249566G>ACA507700430ERFc.546C>T (p.Gly182=)
c.321C>T (p.Gly107=)
c.22+5412C>T (n.22+5412C>T)
n.519C>T
 gnomAD v4
19g.42249566G>CCA507700431ERFc.546C>G (p.Gly182=)
c.321C>G (p.Gly107=)
c.22+5412C>G (n.22+5412C>G)
n.519C>G
19g.42249566G>TCA507700432ERFc.546C>A (p.Gly182=)
c.321C>A (p.Gly107=)
c.22+5412C>A (n.22+5412C>A)
n.519C>A
 gnomAD v4
19g.42249567C>ACA406112830ERFc.545G>T (p.Gly182Val)
c.320G>T (p.Gly107Val)
c.22+5411G>T (n.22+5411G>T)
n.518G>T
19g.42249567C>GCA406112833ERFc.545G>C (p.Gly182Ala)
c.320G>C (p.Gly107Ala)
c.22+5411G>C (n.22+5411G>C)
n.518G>C
19g.42249567C>TCA406112836ERFc.545G>A (p.Gly182Asp)
c.320G>A (p.Gly107Asp)
c.22+5411G>A (n.22+5411G>A)
n.518G>A
19g.42249568C>ACA406112841ERFc.544G>T (p.Gly182Cys)
c.319G>T (p.Gly107Cys)
c.22+5410G>T (n.22+5410G>T)
n.517G>T
19g.42249568C>GCA406112842ERFc.544G>C (p.Gly182Arg)
c.319G>C (p.Gly107Arg)
c.22+5410G>C (n.22+5410G>C)
n.517G>C
19g.42249568C>TCA406112843ERFc.544G>A (p.Gly182Ser)
c.319G>A (p.Gly107Ser)
c.22+5410G>A (n.22+5410G>A)
n.517G>A
19g.42249569C>ACA507700438ERFc.543G>T (p.Leu181=)
c.318G>T (p.Leu106=)
c.22+5409G>T (n.22+5409G>T)
n.516G>T
19g.42249569C>GCA507700439ERFc.543G>C (p.Leu181=)
c.318G>C (p.Leu106=)
c.22+5409G>C (n.22+5409G>C)
n.516G>C
19g.42249569C>TCA507700440ERFc.543G>A (p.Leu181=)
c.318G>A (p.Leu106=)
c.22+5409G>A (n.22+5409G>A)
n.516G>A
19g.42249570A>CCA406112844ERFc.542T>G (p.Leu181Arg)
c.317T>G (p.Leu106Arg)
c.22+5408T>G (n.22+5408T>G)
n.515T>G
19g.42249570A>GCA406112845ERFc.542T>C (p.Leu181Pro)
c.317T>C (p.Leu106Pro)
c.22+5408T>C (n.22+5408T>C)
n.515T>C
19g.42249570A>TCA406112847ERFc.542T>A (p.Leu181Gln)
c.317T>A (p.Leu106Gln)
c.22+5408T>A (n.22+5408T>A)
n.515T>A
19g.42249571G>ACA507700445ERFc.541C>T (p.Leu181=)
c.316C>T (p.Leu106=)
c.22+5407C>T (n.22+5407C>T)
n.514C>T
 dbSNP gnomAD v2 gnomAD v4
19g.42249571G>CCA406112850ERFc.541C>G (p.Leu181Val)
c.316C>G (p.Leu106Val)
c.22+5407C>G (n.22+5407C>G)
n.514C>G
19g.42249571G=CA2336849525ERFc.541C= (p.Leu181=)
c.316C= (p.Leu106=)
c.22+5407C= (n.22+5407C=)
n.514C=
19g.42249571G>TCA406112851ERFc.541C>A (p.Leu181Met)
c.316C>A (p.Leu106Met)
c.22+5407C>A (n.22+5407C>A)
n.514C>A
19g.42249572G>ACA9471376ERFc.540C>T (p.Arg180=)
c.315C>T (p.Arg105=)
c.22+5406C>T (n.22+5406C>T)
n.513C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.42249572G>CCA507700446ERFc.540C>G (p.Arg180=)
c.315C>G (p.Arg105=)
c.22+5406C>G (n.22+5406C>G)
n.513C>G
19g.42249572G=CA2336849526ERFc.540C= (p.Arg180=)
c.315C= (p.Arg105=)
c.22+5406C= (n.22+5406C=)
n.513C=
19g.42249572G>TCA507700449ERFc.540C>A (p.Arg180=)
c.315C>A (p.Arg105=)
c.22+5406C>A (n.22+5406C>A)
n.513C>A
 dbSNP gnomAD v4
19g.42249573C>ACA406112862ERFc.539G>T (p.Arg180Leu)
c.314G>T (p.Arg105Leu)
c.22+5405G>T (n.22+5405G>T)
n.512G>T
19g.42249573C>GCA406112856ERFc.539G>C (p.Arg180Pro)
c.314G>C (p.Arg105Pro)
c.22+5405G>C (n.22+5405G>C)
n.512G>C
19g.42249573C>TCA406112859ERFc.539G>A (p.Arg180His)
c.314G>A (p.Arg105His)
c.22+5405G>A (n.22+5405G>A)
n.512G>A
 gnomAD v4
19g.42249574G>ACA9471377ERFc.538C>T (p.Arg180Cys)
c.313C>T (p.Arg105Cys)
c.22+5404C>T (n.22+5404C>T)
n.511C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.42249574G>CCA406112869ERFc.538C>G (p.Arg180Gly)
c.313C>G (p.Arg105Gly)
c.22+5404C>G (n.22+5404C>G)
n.511C>G
19g.42249574G=CA2336849527ERFc.538C= (p.Arg180=)
c.313C= (p.Arg105=)
c.22+5404C= (n.22+5404C=)
n.511C=
19g.42249574G>TCA406112871ERFc.538C>A (p.Arg180Ser)
c.313C>A (p.Arg105Ser)
c.22+5404C>A (n.22+5404C>A)
n.511C>A
19g.42249575G>ACA507700452ERFc.537C>T (p.Arg179=)
c.312C>T (p.Arg104=)
c.22+5403C>T (n.22+5403C>T)
n.510C>T
19g.42249575G>CCA507700453ERFc.537C>G (p.Arg179=)
c.312C>G (p.Arg104=)
c.22+5403C>G (n.22+5403C>G)
n.510C>G
19g.42249575G>TCA507700454ERFc.537C>A (p.Arg179=)
c.312C>A (p.Arg104=)
c.22+5403C>A (n.22+5403C>A)
n.510C>A
19g.42249576C>ACA406112879ERFc.536G>T (p.Arg179Leu)
c.311G>T (p.Arg104Leu)
c.22+5402G>T (n.22+5402G>T)
n.509G>T
19g.42249576C=CA2336849528ERFc.536G= (p.Arg179=)
c.311G= (p.Arg104=)
c.22+5402G= (n.22+5402G=)
n.509G=
19g.42249576C>GCA406112877ERFc.536G>C (p.Arg179Pro)
c.311G>C (p.Arg104Pro)
c.22+5402G>C (n.22+5402G>C)
n.509G>C
19g.42249576C>TCA9471378ERFc.536G>A (p.Arg179His)
c.311G>A (p.Arg104His)
c.22+5402G>A (n.22+5402G>A)
n.509G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.42249577G>ACA9471379ERFc.535C>T (p.Arg179Cys)
c.310C>T (p.Arg104Cys)
c.22+5401C>T (n.22+5401C>T)
n.508C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.42249577G>CCA406112882ERFc.535C>G (p.Arg179Gly)
c.310C>G (p.Arg104Gly)
c.22+5401C>G (n.22+5401C>G)
n.508C>G
19g.42249577G=CA2336849529ERFc.535C= (p.Arg179=)
c.310C= (p.Arg104=)
c.22+5401C= (n.22+5401C=)
n.508C=
19g.42249577G>TCA406112884ERFc.535C>A (p.Arg179Ser)
c.310C>A (p.Arg104Ser)
c.22+5401C>A (n.22+5401C>A)
n.508C>A
 dbSNP gnomAD v2 gnomAD v4
19g.42249578G>ACA507700463ERFc.534C>T (p.Ala178=)
c.309C>T (p.Ala103=)
c.22+5400C>T (n.22+5400C>T)
n.507C>T
 gnomAD v4
19g.42249578G>CCA507700464ERFc.534C>G (p.Ala178=)
c.309C>G (p.Ala103=)
c.22+5400C>G (n.22+5400C>G)
n.507C>G
19g.42249578G>TCA507700465ERFc.534C>A (p.Ala178=)
c.309C>A (p.Ala103=)
c.22+5400C>A (n.22+5400C>A)
n.507C>A
19g.42249579G>ACA406112888ERFc.533C>T (p.Ala178Val)
c.308C>T (p.Ala103Val)
c.22+5399C>T (n.22+5399C>T)
n.506C>T
 gnomAD v4
19g.42249579G>CCA406112890ERFc.533C>G (p.Ala178Gly)
c.308C>G (p.Ala103Gly)
c.22+5399C>G (n.22+5399C>G)
n.506C>G
19g.42249579G>TCA406112892ERFc.533C>A (p.Ala178Asp)
c.308C>A (p.Ala103Asp)
c.22+5399C>A (n.22+5399C>A)
n.506C>A
19g.42249580C>ACA406112909ERFc.532G>T (p.Ala178Ser)
c.307G>T (p.Ala103Ser)
c.22+5398G>T (n.22+5398G>T)
n.505G>T
19g.42249580C=CA2336849530ERFc.532G= (p.Ala178=)
c.307G= (p.Ala103=)
c.22+5398G= (n.22+5398G=)
n.505G=
19g.42249580C>GCA406112900ERFc.532G>C (p.Ala178Pro)
c.307G>C (p.Ala103Pro)
c.22+5398G>C (n.22+5398G>C)
n.505G>C
 ClinVar dbSNP
19g.42249580C>TCA9471380ERFc.532G>A (p.Ala178Thr)
c.307G>A (p.Ala103Thr)
c.22+5398G>A (n.22+5398G>A)
n.505G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.42249581C>ACA507700477ERFc.531G>T (p.Val177=)
c.306G>T (p.Val102=)
c.22+5397G>T (n.22+5397G>T)
n.504G>T
19g.42249581C>GCA507700474ERFc.531G>C (p.Val177=)
c.306G>C (p.Val102=)
c.22+5397G>C (n.22+5397G>C)
n.504G>C
19g.42249581C>TCA507700471ERFc.531G>A (p.Val177=)
c.306G>A (p.Val102=)
c.22+5397G>A (n.22+5397G>A)
n.504G>A
19g.42249582A=CA2336849531ERFc.530T= (p.Val177=)
c.305T= (p.Val102=)
c.22+5396T= (n.22+5396T=)
n.503T=
19g.42249582A>CCA406112916ERFc.530T>G (p.Val177Gly)
c.305T>G (p.Val102Gly)
c.22+5396T>G (n.22+5396T>G)
n.503T>G
 dbSNP
19g.42249582A>GCA406112919ERFc.530T>C (p.Val177Ala)
c.305T>C (p.Val102Ala)
c.22+5396T>C (n.22+5396T>C)
n.503T>C
19g.42249582A>TCA406112922ERFc.530T>A (p.Val177Glu)
c.305T>A (p.Val102Glu)
c.22+5396T>A (n.22+5396T>A)
n.503T>A
19g.42249583C>ACA406112923ERFc.529G>T (p.Val177Leu)
c.304G>T (p.Val102Leu)
c.22+5395G>T (n.22+5395G>T)
n.502G>T
 dbSNP gnomAD v2 gnomAD v4
19g.42249583C=CA2336849532ERFc.529G= (p.Val177=)
c.304G= (p.Val102=)
c.22+5395G= (n.22+5395G=)
n.502G=
19g.42249583C>GCA406112925ERFc.529G>C (p.Val177Leu)
c.304G>C (p.Val102Leu)
c.22+5395G>C (n.22+5395G>C)
n.502G>C
19g.42249583C>TCA406112927ERFc.529G>A (p.Val177Met)
c.304G>A (p.Val102Met)
c.22+5395G>A (n.22+5395G>A)
n.502G>A
19g.42249584C>ACA507700488ERFc.528G>T (p.Val176=)
c.303G>T (p.Val101=)
c.22+5394G>T (n.22+5394G>T)
n.501G>T
 gnomAD v4
19g.42249584C>GCA507700487ERFc.528G>C (p.Val176=)
c.303G>C (p.Val101=)
c.22+5394G>C (n.22+5394G>C)
n.501G>C
19g.42249584C>TCA507700485ERFc.528G>A (p.Val176=)
c.303G>A (p.Val101=)
c.22+5394G>A (n.22+5394G>A)
n.501G>A
19g.42249585A=CA2336849533ERFc.527T= (p.Val176=)
c.302T= (p.Val101=)
c.22+5393T= (n.22+5393T=)
n.500T=
19g.42249585A>CCA406112935ERFc.527T>G (p.Val176Gly)
c.302T>G (p.Val101Gly)
c.22+5393T>G (n.22+5393T>G)
n.500T>G
 dbSNP
19g.42249585A>GCA406112937ERFc.527T>C (p.Val176Ala)
c.302T>C (p.Val101Ala)
c.22+5393T>C (n.22+5393T>C)
n.500T>C
19g.42249585A>TCA406112939ERFc.527T>A (p.Val176Glu)
c.302T>A (p.Val101Glu)
c.22+5393T>A (n.22+5393T>A)
n.500T>A
19g.42249586C>ACA406112942ERFc.526G>T (p.Val176Leu)
c.301G>T (p.Val101Leu)
c.22+5392G>T (n.22+5392G>T)
n.499G>T
19g.42249586C=CA2336849534ERFc.526G= (p.Val176=)
c.301G= (p.Val101=)
c.22+5392G= (n.22+5392G=)
n.499G=
19g.42249586C>GCA406112947ERFc.526G>C (p.Val176Leu)
c.301G>C (p.Val101Leu)
c.22+5392G>C (n.22+5392G>C)
n.499G>C
19g.42249586C>TCA406112949ERFc.526G>A (p.Val176Met)
c.301G>A (p.Val101Met)
c.22+5392G>A (n.22+5392G>A)
n.499G>A
 dbSNP gnomAD v4
19g.42249587A=CA2336849535ERFc.525T= (p.Ala175=)
c.300T= (p.Ala100=)
c.22+5391T= (n.22+5391T=)
n.498T=
19g.42249587A>CCA507700492ERFc.525T>G (p.Ala175=)
c.300T>G (p.Ala100=)
c.22+5391T>G (n.22+5391T>G)
n.498T>G
19g.42249587A>GCA9471381ERFc.525T>C (p.Ala175=)
c.300T>C (p.Ala100=)
c.22+5391T>C (n.22+5391T>C)
n.498T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.42249587A>TCA507700493ERFc.525T>A (p.Ala175=)
c.300T>A (p.Ala100=)
c.22+5391T>A (n.22+5391T>A)
n.498T>A
19g.42249588G>ACA406112952ERFc.524C>T (p.Ala175Val)
c.299C>T (p.Ala100Val)
c.22+5390C>T (n.22+5390C>T)
n.497C>T
19g.42249588G>CCA406112950ERFc.524C>G (p.Ala175Gly)
c.299C>G (p.Ala100Gly)
c.22+5390C>G (n.22+5390C>G)
n.497C>G
 dbSNP
19g.42249588G=CA2336849536ERFc.524C= (p.Ala175=)
c.299C= (p.Ala100=)
c.22+5390C= (n.22+5390C=)
n.497C=
19g.42249588G>TCA406112951ERFc.524C>A (p.Ala175Asp)
c.299C>A (p.Ala100Asp)
c.22+5390C>A (n.22+5390C>A)
n.497C>A
19g.42249589C>ACA406112953ERFc.523G>T (p.Ala175Ser)
c.298G>T (p.Ala100Ser)
c.22+5389G>T (n.22+5389G>T)
n.496G>T
 gnomAD v4
19g.42249589C>GCA406112954ERFc.523G>C (p.Ala175Pro)
c.298G>C (p.Ala100Pro)
c.22+5389G>C (n.22+5389G>C)
n.496G>C
19g.42249589C>TCA406112956ERFc.523G>A (p.Ala175Thr)
c.298G>A (p.Ala100Thr)
c.22+5389G>A (n.22+5389G>A)
n.496G>A
 ClinVar dbSNP
19g.42249590C>ACA507700498ERFc.522G>T (p.Ser174=)
c.297G>T (p.Ser99=)
c.22+5388G>T (n.22+5388G>T)
n.495G>T
19g.42249590C=CA2336849537ERFc.522G= (p.Ser174=)
c.297G= (p.Ser99=)
c.22+5388G= (n.22+5388G=)
n.495G=
19g.42249590C>GCA507700500ERFc.522G>C (p.Ser174=)
c.297G>C (p.Ser99=)
c.22+5388G>C (n.22+5388G>C)
n.495G>C
19g.42249590C>TCA507700502ERFc.522G>A (p.Ser174=)
c.297G>A (p.Ser99=)
c.22+5388G>A (n.22+5388G>A)
n.495G>A
 dbSNP gnomAD v4
19g.42249591G>ACA406112958ERFc.521C>T (p.Ser174Leu)
c.296C>T (p.Ser99Leu)
c.22+5387C>T (n.22+5387C>T)
n.494C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.42249591G>CCA406112965ERFc.521C>G (p.Ser174Trp)
c.296C>G (p.Ser99Trp)
c.22+5387C>G (n.22+5387C>G)
n.494C>G
19g.42249591G=CA2336849538ERFc.521C= (p.Ser174=)
c.296C= (p.Ser99=)
c.22+5387C= (n.22+5387C=)
n.494C=
19g.42249591G>TCA406112969ERFc.521C>A (p.Ser174Ter)
c.296C>A (p.Ser99Ter)
c.22+5387C>A (n.22+5387C>A)
n.494C>A
19g.42249594_42249598dupCA2499225506ERFc.517_521dup (p.Ala175SerfsTer?)
c.292_296dup (p.Ala100SerfsTer?)
c.22+5383_22+5387dup (n.22+5383_22+5387dup)
n.490_494dup
 ClinVar dbSNP
19g.42249592A>CCA406112973ERFc.520T>G (p.Ser174Ala)
c.295T>G (p.Ser99Ala)
c.22+5386T>G (n.22+5386T>G)
n.493T>G
19g.42249592A>GCA406112970ERFc.520T>C (p.Ser174Pro)
c.295T>C (p.Ser99Pro)
c.22+5386T>C (n.22+5386T>C)
n.493T>C
19g.42249592A>TCA406112971ERFc.520T>A (p.Ser174Thr)
c.295T>A (p.Ser99Thr)
c.22+5386T>A (n.22+5386T>A)
n.493T>A
19g.42249593G>ACA507700507ERFc.519C>T (p.Phe173=)
c.294C>T (p.Phe98=)
c.22+5385C>T (n.22+5385C>T)
n.492C>T
 dbSNP gnomAD v3 gnomAD v4
19g.42249593G>CCA406112974ERFc.519C>G (p.Phe173Leu)
c.294C>G (p.Phe98Leu)
c.22+5385C>G (n.22+5385C>G)
n.492C>G
 gnomAD v4
19g.42249593G=CA2336849539ERFc.519C= (p.Phe173=)
c.294C= (p.Phe98=)
c.22+5385C= (n.22+5385C=)
n.492C=
19g.42249593G>TCA406112975ERFc.519C>A (p.Phe173Leu)
c.294C>A (p.Phe98Leu)
c.22+5385C>A (n.22+5385C>A)
n.492C>A
19g.42249594A>CCA406112977ERFc.518T>G (p.Phe173Cys)
c.293T>G (p.Phe98Cys)
c.22+5384T>G (n.22+5384T>G)
n.491T>G
19g.42249594A>GCA406112979ERFc.518T>C (p.Phe173Ser)
c.293T>C (p.Phe98Ser)
c.22+5384T>C (n.22+5384T>C)
n.491T>C
 gnomAD v4
19g.42249594A>TCA406112983ERFc.518T>A (p.Phe173Tyr)
c.293T>A (p.Phe98Tyr)
c.22+5384T>A (n.22+5384T>A)
n.491T>A
19g.42249595A>CCA406112992ERFc.517T>G (p.Phe173Val)
c.292T>G (p.Phe98Val)
c.22+5383T>G (n.22+5383T>G)
n.490T>G
19g.42249595A>GCA406112986ERFc.517T>C (p.Phe173Leu)
c.292T>C (p.Phe98Leu)
c.22+5383T>C (n.22+5383T>C)
n.490T>C
19g.42249595A>TCA406112990ERFc.517T>A (p.Phe173Ile)
c.292T>A (p.Phe98Ile)
c.22+5383T>A (n.22+5383T>A)
n.490T>A
19g.42249596G>ACA9471382ERFc.516C>T (p.Leu172=)
c.291C>T (p.Leu97=)
c.22+5382C>T (n.22+5382C>T)
n.489C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.42249596G>CCA507700512ERFc.516C>G (p.Leu172=)
c.291C>G (p.Leu97=)
c.22+5382C>G (n.22+5382C>G)
n.489C>G
 dbSNP gnomAD v2 gnomAD v4
19g.42249596G=CA2336849540ERFc.516C= (p.Leu172=)
c.291C= (p.Leu97=)
c.22+5382C= (n.22+5382C=)
n.489C=
19g.42249596G>TCA507700514ERFc.516C>A (p.Leu172=)
c.291C>A (p.Leu97=)
c.22+5382C>A (n.22+5382C>A)
n.489C>A
19g.42249597A>CCA406113006ERFc.515T>G (p.Leu172Arg)
c.290T>G (p.Leu97Arg)
c.22+5381T>G (n.22+5381T>G)
n.488T>G
19g.42249597A>GCA406113007ERFc.515T>C (p.Leu172Pro)
c.290T>C (p.Leu97Pro)
c.22+5381T>C (n.22+5381T>C)
n.488T>C
19g.42249597A>TCA406113010ERFc.515T>A (p.Leu172His)
c.290T>A (p.Leu97His)
c.22+5381T>A (n.22+5381T>A)
n.488T>A
19g.42249598G>ACA9471383ERFc.514C>T (p.Leu172Phe)
c.289C>T (p.Leu97Phe)
c.22+5380C>T (n.22+5380C>T)
n.487C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.42249598G>CCA406113016ERFc.514C>G (p.Leu172Val)
c.289C>G (p.Leu97Val)
c.22+5380C>G (n.22+5380C>G)
n.487C>G
19g.42249598G=CA2336849541ERFc.514C= (p.Leu172=)
c.289C= (p.Leu97=)
c.22+5380C= (n.22+5380C=)
n.487C=
19g.42249598G>TCA406113018ERFc.514C>A (p.Leu172Ile)
c.289C>A (p.Leu97Ile)
c.22+5380C>A (n.22+5380C>A)
n.487C>A
19g.42249599G>ACA9471385ERFc.513C>T (p.Ser171=)
c.288C>T (p.Ser96=)
c.22+5379C>T (n.22+5379C>T)
n.486C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.42249599G>CCA507700520ERFc.513C>G (p.Ser171=)
c.288C>G (p.Ser96=)
c.22+5379C>G (n.22+5379C>G)
n.486C>G
19g.42249599G=CA2336849543ERFc.513C= (p.Ser171=)
c.288C= (p.Ser96=)
c.22+5379C= (n.22+5379C=)
n.486C=
19g.42249599G>TCA507700522ERFc.513C>A (p.Ser171=)
c.288C>A (p.Ser96=)
c.22+5379C>A (n.22+5379C>A)
n.486C>A
19g.42249599_42249605delinsGGAAGATCA2336849542ERFc.507_513delinsATCTTCC (p.Ser169=)
c.282_288delinsATCTTCC (p.Ser94=)
c.22+5373_22+5379delinsATCTTCC (n.22+5373_22+5379delinsATCTTCC)
n.480_486delinsATCTTCC
19g.42249600G>ACA406113026ERFc.512C>T (p.Ser171Phe)
c.287C>T (p.Ser96Phe)
c.22+5378C>T (n.22+5378C>T)
n.485C>T
 gnomAD v4
19g.42249600G>CCA406113027ERFc.512C>G (p.Ser171Cys)
c.287C>G (p.Ser96Cys)
c.22+5378C>G (n.22+5378C>G)
n.485C>G
19g.42249600G=CA2336849545ERFc.512C= (p.Ser171=)
c.287C= (p.Ser96=)
c.22+5378C= (n.22+5378C=)
n.485C=
19g.42249600G>TCA406113030ERFc.512C>A (p.Ser171Tyr)
c.287C>A (p.Ser96Tyr)
c.22+5378C>A (n.22+5378C>A)
n.485C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.42249611_42249616dupCA2336849544ERFc.507_512dup (p.Ser171_Leu172insSerSer)
c.282_287dup (p.Ser96_Leu97insSerSer)
c.22+5373_22+5378dup (n.22+5373_22+5378dup)
n.480_485dup
 dbSNP gnomAD v4
19g.42249611_42249616delCA9471384ERFc.507_512del (p.Ser170_Ser171del)
c.282_287del (p.Ser95_Ser96del)
c.22+5373_22+5378del (n.22+5373_22+5378del)
n.480_485del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.42249601A>CCA406113036ERFc.511T>G (p.Ser171Ala)
c.286T>G (p.Ser96Ala)
c.22+5377T>G (n.22+5377T>G)
n.484T>G
19g.42249601A>GCA406113041ERFc.511T>C (p.Ser171Pro)
c.286T>C (p.Ser96Pro)
c.22+5377T>C (n.22+5377T>C)
n.484T>C
19g.42249601A>TCA406113037ERFc.511T>A (p.Ser171Thr)
c.286T>A (p.Ser96Thr)
c.22+5377T>A (n.22+5377T>A)
n.484T>A
 gnomAD v4
19g.42249602A>CCA507700536ERFc.510T>G (p.Ser170=)
c.285T>G (p.Ser95=)
c.22+5376T>G (n.22+5376T>G)
n.483T>G
19g.42249602A>GCA507700540ERFc.510T>C (p.Ser170=)
c.285T>C (p.Ser95=)
c.22+5376T>C (n.22+5376T>C)
n.483T>C
19g.42249602A>TCA507700539ERFc.510T>A (p.Ser170=)
c.285T>A (p.Ser95=)
c.22+5376T>A (n.22+5376T>A)
n.483T>A
19g.42249603G>ACA406113044ERFc.509C>T (p.Ser170Phe)
c.284C>T (p.Ser95Phe)
c.22+5375C>T (n.22+5375C>T)
n.482C>T
 dbSNP gnomAD v3 gnomAD v4
19g.42249603G>CCA406113045ERFc.509C>G (p.Ser170Cys)
c.284C>G (p.Ser95Cys)
c.22+5375C>G (n.22+5375C>G)
n.482C>G
19g.42249603G=CA2336849546ERFc.509C= (p.Ser170=)
c.284C= (p.Ser95=)
c.22+5375C= (n.22+5375C=)
n.482C=
19g.42249603G>TCA406113047ERFc.509C>A (p.Ser170Tyr)
c.284C>A (p.Ser95Tyr)
c.22+5375C>A (n.22+5375C>A)
n.482C>A
 gnomAD v4
19g.42249604A>CCA406113050ERFc.508T>G (p.Ser170Ala)
c.283T>G (p.Ser95Ala)
c.22+5374T>G (n.22+5374T>G)
n.481T>G
19g.42249604A>GCA406113052ERFc.508T>C (p.Ser170Pro)
c.283T>C (p.Ser95Pro)
c.22+5374T>C (n.22+5374T>C)
n.481T>C
19g.42249604A>TCA406113054ERFc.508T>A (p.Ser170Thr)
c.283T>A (p.Ser95Thr)
c.22+5374T>A (n.22+5374T>A)
n.481T>A
19g.42249605T>ACA507700542ERFc.507A>T (p.Ser169=)
c.282A>T (p.Ser94=)
c.22+5373A>T (n.22+5373A>T)
n.480A>T
 dbSNP
19g.42249605T>CCA507700543ERFc.507A>G (p.Ser169=)
c.282A>G (p.Ser94=)
c.22+5373A>G (n.22+5373A>G)
n.480A>G
 dbSNP gnomAD v3 gnomAD v4
19g.42249605T>GCA507700544ERFc.507A>C (p.Ser169=)
c.282A>C (p.Ser94=)
c.22+5373A>C (n.22+5373A>C)
n.480A>C
19g.42249605T=CA2336849548ERFc.507A= (p.Ser169=)
c.282A= (p.Ser94=)
c.22+5373A= (n.22+5373A=)
n.480A=
19g.42249605_42249608delinsTGAACA2336849547ERFc.504_507delinsTTCA (p.Ser168=)
c.279_282delinsTTCA (p.Ser93=)
c.22+5370_22+5373delinsTTCA (n.22+5370_22+5373delinsTTCA)
n.477_480delinsTTCA
19g.42249606G>ACA406113057ERFc.506C>T (p.Ser169Leu)
c.281C>T (p.Ser94Leu)
c.22+5372C>T (n.22+5372C>T)
n.479C>T
 gnomAD v4 COSMIC
19g.42249606G>CCA406113056ERFc.506C>G (p.Ser169Ter)
c.281C>G (p.Ser94Ter)
c.22+5372C>G (n.22+5372C>G)
n.479C>G
19g.42249606G>TCA406113055ERFc.506C>A (p.Ser169Ter)
c.281C>A (p.Ser94Ter)
c.22+5372C>A (n.22+5372C>A)
n.479C>A
19g.42249608_42249610delCA633472418ERFc.504_506del (p.Ser169del)
c.279_281del (p.Ser94del)
c.22+5370_22+5372del (n.22+5370_22+5372del)
n.477_479del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.42249607A>CCA406113060ERFc.505T>G (p.Ser169Ala)
c.280T>G (p.Ser94Ala)
c.22+5371T>G (n.22+5371T>G)
n.478T>G
19g.42249607A>GCA406113062ERFc.505T>C (p.Ser169Pro)
c.280T>C (p.Ser94Pro)
c.22+5371T>C (n.22+5371T>C)
n.478T>C
19g.42249607A>TCA406113064ERFc.505T>A (p.Ser169Thr)
c.280T>A (p.Ser94Thr)
c.22+5371T>A (n.22+5371T>A)
n.478T>A
19g.42249608A>CCA507700548ERFc.504T>G (p.Ser168=)
c.279T>G (p.Ser93=)
c.22+5370T>G (n.22+5370T>G)
n.477T>G
19g.42249608A>GCA507700551ERFc.504T>C (p.Ser168=)
c.279T>C (p.Ser93=)
c.22+5370T>C (n.22+5370T>C)
n.477T>C
19g.42249608A>TCA507700549ERFc.504T>A (p.Ser168=)
c.279T>A (p.Ser93=)
c.22+5370T>A (n.22+5370T>A)
n.477T>A
 gnomAD v4
19g.42249609G>ACA406113065ERFc.503C>T (p.Ser168Phe)
c.278C>T (p.Ser93Phe)
c.22+5369C>T (n.22+5369C>T)
n.476C>T
 COSMIC
19g.42249609G>CCA406113067ERFc.503C>G (p.Ser168Cys)
c.278C>G (p.Ser93Cys)
c.22+5369C>G (n.22+5369C>G)
n.476C>G
 gnomAD v4
19g.42249609G>TCA406113068ERFc.503C>A (p.Ser168Tyr)
c.278C>A (p.Ser93Tyr)
c.22+5369C>A (n.22+5369C>A)
n.476C>A
19g.42249610A>CCA406113069ERFc.502T>G (p.Ser168Ala)
c.277T>G (p.Ser93Ala)
c.22+5368T>G (n.22+5368T>G)
n.475T>G
19g.42249610A>GCA406113071ERFc.502T>C (p.Ser168Pro)
c.277T>C (p.Ser93Pro)
c.22+5368T>C (n.22+5368T>C)
n.475T>C
 gnomAD v4
19g.42249610A>TCA406113070ERFc.502T>A (p.Ser168Thr)
c.277T>A (p.Ser93Thr)
c.22+5368T>A (n.22+5368T>A)
n.475T>A
19g.42249611T>ACA507700559ERFc.501A>T (p.Ser167=)
c.276A>T (p.Ser92=)
c.22+5367A>T (n.22+5367A>T)
n.474A>T
 dbSNP gnomAD v3 gnomAD v4
19g.42249611T>CCA507700560ERFc.501A>G (p.Ser167=)
c.276A>G (p.Ser92=)
c.22+5367A>G (n.22+5367A>G)
n.474A>G
19g.42249611T>GCA507700564ERFc.501A>C (p.Ser167=)
c.276A>C (p.Ser92=)
c.22+5367A>C (n.22+5367A>C)
n.474A>C
19g.42249611T=CA2336849550ERFc.501A= (p.Ser167=)
c.276A= (p.Ser92=)
c.22+5367A= (n.22+5367A=)
n.474A=
19g.42249611_42249614delinsTGAACA2336849549ERFc.498_501delinsTTCA (p.Ser166=)
c.273_276delinsTTCA (p.Ser91=)
c.22+5364_22+5367delinsTTCA (n.22+5364_22+5367delinsTTCA)
n.471_474delinsTTCA
19g.42249612G>ACA406113072ERFc.500C>T (p.Ser167Leu)
c.275C>T (p.Ser92Leu)
c.22+5366C>T (n.22+5366C>T)
n.473C>T
19g.42249612G>CCA406113073ERFc.500C>G (p.Ser167Ter)
c.275C>G (p.Ser92Ter)
c.22+5366C>G (n.22+5366C>G)
n.473C>G
19g.42249612G>TCA406113074ERFc.500C>A (p.Ser167Ter)
c.275C>A (p.Ser92Ter)
c.22+5366C>A (n.22+5366C>A)
n.473C>A
19g.42249614_42249616delCA9471386ERFc.498_500del (p.Ser167del)
c.273_275del (p.Ser92del)
c.22+5364_22+5366del (n.22+5364_22+5366del)
n.471_473del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.42249613A>CCA406113080ERFc.499T>G (p.Ser167Ala)
c.274T>G (p.Ser92Ala)
c.22+5365T>G (n.22+5365T>G)
n.472T>G
19g.42249613A>GCA406113082ERFc.499T>C (p.Ser167Pro)
c.274T>C (p.Ser92Pro)
c.22+5365T>C (n.22+5365T>C)
n.472T>C
19g.42249613A>TCA406113084ERFc.499T>A (p.Ser167Thr)
c.274T>A (p.Ser92Thr)
c.22+5365T>A (n.22+5365T>A)
n.472T>A
19g.42249614A>CCA507700569ERFc.498T>G (p.Ser166=)
c.273T>G (p.Ser91=)
c.22+5364T>G (n.22+5364T>G)
n.471T>G
 gnomAD v4
19g.42249614A>GCA507700570ERFc.498T>C (p.Ser166=)
c.273T>C (p.Ser91=)
c.22+5364T>C (n.22+5364T>C)
n.471T>C
19g.42249614A>TCA507700572ERFc.498T>A (p.Ser166=)
c.273T>A (p.Ser91=)
c.22+5364T>A (n.22+5364T>A)
n.471T>A
19g.42249615G>ACA406113086ERFc.497C>T (p.Ser166Phe)
c.272C>T (p.Ser91Phe)
c.22+5363C>T (n.22+5363C>T)
n.470C>T
19g.42249615G>CCA406113089ERFc.497C>G (p.Ser166Cys)
c.272C>G (p.Ser91Cys)
c.22+5363C>G (n.22+5363C>G)
n.470C>G
19g.42249615G>TCA406113091ERFc.497C>A (p.Ser166Tyr)
c.272C>A (p.Ser91Tyr)
c.22+5363C>A (n.22+5363C>A)
n.470C>A
19g.42249616A>CCA406113094ERFc.496T>G (p.Ser166Ala)
c.271T>G (p.Ser91Ala)
c.22+5362T>G (n.22+5362T>G)
n.469T>G
19g.42249616A>GCA406113096ERFc.496T>C (p.Ser166Pro)
c.271T>C (p.Ser91Pro)
c.22+5362T>C (n.22+5362T>C)
n.469T>C
19g.42249616A>TCA406113095ERFc.496T>A (p.Ser166Thr)
c.271T>A (p.Ser91Thr)
c.22+5362T>A (n.22+5362T>A)
n.469T>A
19g.42249617G>ACA308638044ERFc.495C>T (p.Cys165=)
c.270C>T (p.Cys90=)
c.22+5361C>T (n.22+5361C>T)
n.468C>T
 dbSNP gnomAD v2
19g.42249617G>CCA406113099ERFc.495C>G (p.Cys165Trp)
c.270C>G (p.Cys90Trp)
c.22+5361C>G (n.22+5361C>G)
n.468C>G
19g.42249617G=CA2336849551ERFc.495C= (p.Cys165=)
c.270C= (p.Cys90=)
c.22+5361C= (n.22+5361C=)
n.468C=
19g.42249617G>TCA406113102ERFc.495C>A (p.Cys165Ter)
c.270C>A (p.Cys90Ter)
c.22+5361C>A (n.22+5361C>A)
n.468C>A
19g.42249618C>ACA406113105ERFc.494G>T (p.Cys165Phe)
c.269G>T (p.Cys90Phe)
c.22+5360G>T (n.22+5360G>T)
n.467G>T
19g.42249618C>GCA406113108ERFc.494G>C (p.Cys165Ser)
c.269G>C (p.Cys90Ser)
c.22+5360G>C (n.22+5360G>C)
n.467G>C
19g.42249618C>TCA406113110ERFc.494G>A (p.Cys165Tyr)
c.269G>A (p.Cys90Tyr)
c.22+5360G>A (n.22+5360G>A)
n.467G>A
19g.42249619A>CCA406113111ERFc.493T>G (p.Cys165Gly)
c.268T>G (p.Cys90Gly)
c.22+5359T>G (n.22+5359T>G)
n.466T>G
19g.42249619A>GCA406113113ERFc.493T>C (p.Cys165Arg)
c.268T>C (p.Cys90Arg)
c.22+5359T>C (n.22+5359T>C)
n.466T>C
 gnomAD v4
19g.42249619A>TCA406113116ERFc.493T>A (p.Cys165Ser)
c.268T>A (p.Cys90Ser)
c.22+5359T>A (n.22+5359T>A)
n.466T>A
19g.42249620G>ACA9471387ERFc.492C>T (p.Ala164=)
c.267C>T (p.Ala89=)
c.22+5358C>T (n.22+5358C>T)
n.465C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.42249620G>CCA507700583ERFc.492C>G (p.Ala164=)
c.267C>G (p.Ala89=)
c.22+5358C>G (n.22+5358C>G)
n.465C>G
19g.42249620G=CA2336849552ERFc.492C= (p.Ala164=)
c.267C= (p.Ala89=)
c.22+5358C= (n.22+5358C=)
n.465C=
19g.42249620G>TCA507700585ERFc.492C>A (p.Ala164=)
c.267C>A (p.Ala89=)
c.22+5358C>A (n.22+5358C>A)
n.465C>A
19g.42249621G>ACA406113121ERFc.491C>T (p.Ala164Val)
c.266C>T (p.Ala89Val)
c.22+5357C>T (n.22+5357C>T)
n.464C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.42249621G>CCA406113133ERFc.491C>G (p.Ala164Gly)
c.266C>G (p.Ala89Gly)
c.22+5357C>G (n.22+5357C>G)
n.464C>G
19g.42249621G=CA2336849553ERFc.491C= (p.Ala164=)
c.266C= (p.Ala89=)
c.22+5357C= (n.22+5357C=)
n.464C=
19g.42249621G>TCA406113136ERFc.491C>A (p.Ala164Asp)
c.266C>A (p.Ala89Asp)
c.22+5357C>A (n.22+5357C>A)
n.464C>A
19g.42249622C>ACA406113143ERFc.490G>T (p.Ala164Ser)
c.265G>T (p.Ala89Ser)
c.22+5356G>T (n.22+5356G>T)
n.463G>T
c.185G>T
19g.42249622C>GCA406113138ERFc.490G>C (p.Ala164Pro)
c.265G>C (p.Ala89Pro)
c.22+5356G>C (n.22+5356G>C)
n.463G>C
c.185G>C
 gnomAD v4
19g.42249622C>TCA406113141ERFc.490G>A (p.Ala164Thr)
c.265G>A (p.Ala89Thr)
c.22+5356G>A (n.22+5356G>A)
n.463G>A
c.185G>A
19g.42249623T>ACA507700589ERFc.489A>T (p.Pro163=)
c.264A>T (p.Pro88=)
c.22+5355A>T (n.22+5355A>T)
n.462A>T
c.184A>T
19g.42249623T>CCA507700591ERFc.489A>G (p.Pro163=)
c.264A>G (p.Pro88=)
c.22+5355A>G (n.22+5355A>G)
n.462A>G
c.184A>G
 COSMIC
19g.42249623T>GCA507700593ERFc.489A>C (p.Pro163=)
c.264A>C (p.Pro88=)
c.22+5355A>C (n.22+5355A>C)
n.462A>C
c.184A>C
19g.42249624G>ACA406113148ERFc.488C>T (p.Pro163Leu)
c.263C>T (p.Pro88Leu)
c.22+5354C>T (n.22+5354C>T)
n.461C>T
c.183C>T (p.Thr61=)
 dbSNP
19g.42249624G>CCA406113149ERFc.488C>G (p.Pro163Arg)
c.263C>G (p.Pro88Arg)
c.22+5354C>G (n.22+5354C>G)
n.461C>G
c.183C>G (p.Thr61=)
19g.42249624G=CA2336849554ERFc.488C= (p.Pro163=)
c.263C= (p.Pro88=)
c.22+5354C= (n.22+5354C=)
n.461C=
c.183C= (p.Thr61=)
19g.42249624G>TCA406113151ERFc.488C>A (p.Pro163Gln)
c.263C>A (p.Pro88Gln)
c.22+5354C>A (n.22+5354C>A)
n.461C>A
c.183C>A (p.Thr61=)
19g.42249625G>ACA406113153ERFc.487C>T (p.Pro163Ser)
c.262C>T (p.Pro88Ser)
c.22+5353C>T (n.22+5353C>T)
n.460C>T
c.182C>T (p.Thr61Ile)
 dbSNP gnomAD v3 gnomAD v4
19g.42249625G>CCA406113166ERFc.487C>G (p.Pro163Ala)
c.262C>G (p.Pro88Ala)
c.22+5353C>G (n.22+5353C>G)
n.460C>G
c.182C>G (p.Thr61Ser)
 gnomAD v4
19g.42249625G=CA2336849555ERFc.487C= (p.Pro163=)
c.262C= (p.Pro88=)
c.22+5353C= (n.22+5353C=)
n.460C=
c.182C= (p.Thr61=)
19g.42249625G>TCA406113169ERFc.487C>A (p.Pro163Thr)
c.262C>A (p.Pro88Thr)
c.22+5353C>A (n.22+5353C>A)
n.460C>A
c.182C>A (p.Thr61Asn)
19g.42249626T>ACA406113172ERFc.486A>T (p.Pro162=)
c.261A>T (p.Pro87=)
c.22+5352A>T (n.22+5352A>T)
n.459A>T
c.181A>T (p.Thr61Ser)
19g.42249626T>CCA406113175ERFc.486A>G (p.Pro162=)
c.261A>G (p.Pro87=)
c.22+5352A>G (n.22+5352A>G)
n.459A>G
c.181A>G (p.Thr61Ala)
 gnomAD v4
19g.42249626T>GCA406113178ERFc.486A>C (p.Pro162=)
c.261A>C (p.Pro87=)
c.22+5352A>C (n.22+5352A>C)
n.459A>C
c.181A>C (p.Thr61Pro)
19g.42249627G>ACA406113179ERFc.485C>T (p.Pro162Leu)
c.260C>T (p.Pro87Leu)
c.22+5351C>T (n.22+5351C>T)
n.458C>T
c.180C>T (p.Thr60=)
 dbSNP gnomAD v2
19g.42249627G>CCA406113180ERFc.485C>G (p.Pro162Arg)
c.260C>G (p.Pro87Arg)
c.22+5351C>G (n.22+5351C>G)
n.458C>G
c.180C>G (p.Thr60=)
19g.42249627G=CA2336849556ERFc.485C= (p.Pro162=)
c.260C= (p.Pro87=)
c.22+5351C= (n.22+5351C=)
n.458C=
c.180C= (p.Thr60=)
19g.42249627G>TCA406113181ERFc.485C>A (p.Pro162Gln)
c.260C>A (p.Pro87Gln)
c.22+5351C>A (n.22+5351C>A)
n.458C>A
c.180C>A (p.Thr60=)
19g.42249628G>ACA406113186ERFc.484C>T (p.Pro162Ser)
c.259C>T (p.Pro87Ser)
c.22+5350C>T (n.22+5350C>T)
n.457C>T
c.179C>T (p.Thr60Ile)
19g.42249628G>CCA406113188ERFc.484C>G (p.Pro162Ala)
c.259C>G (p.Pro87Ala)
c.22+5350C>G (n.22+5350C>G)
n.457C>G
c.179C>G (p.Thr60Ser)
19g.42249628G>TCA406113185ERFc.484C>A (p.Pro162Thr)
c.259C>A (p.Pro87Thr)
c.22+5350C>A (n.22+5350C>A)
n.457C>A
c.179C>A (p.Thr60Asn)
19g.42249629T>ACA406113192ERFc.483A>T (p.Ser161=)
c.258A>T (p.Ser86=)
c.22+5349A>T (n.22+5349A>T)
n.456A>T
c.178A>T (p.Thr60Ser)
19g.42249629T>CCA406113191ERFc.483A>G (p.Ser161=)
c.258A>G (p.Ser86=)
c.22+5349A>G (n.22+5349A>G)
n.456A>G
c.178A>G (p.Thr60Ala)
19g.42249629T>GCA406113193ERFc.483A>C (p.Ser161=)
c.258A>C (p.Ser86=)
c.22+5349A>C (n.22+5349A>C)
n.456A>C
c.178A>C (p.Thr60Pro)
 dbSNP
19g.42249629T=CA2336849557ERFc.483A= (p.Ser161=)
c.258A= (p.Ser86=)
c.22+5349A= (n.22+5349A=)
n.456A=
c.178A= (p.Thr60=)
19g.42249630G>ACA406113197ERFc.482C>T (p.Ser161Leu)
c.257C>T (p.Ser86Leu)
c.22+5348C>T (n.22+5348C>T)
n.455C>T
c.177C>T (p.Leu59=)
 gnomAD v4
19g.42249630G>CCA406113201ERFc.482C>G (p.Ser161Ter)
c.257C>G (p.Ser86Ter)
c.22+5348C>G (n.22+5348C>G)
n.455C>G
c.177C>G (p.Leu59=)
19g.42249630G>TCA406113204ERFc.482C>A (p.Ser161Ter)
c.257C>A (p.Ser86Ter)
c.22+5348C>A (n.22+5348C>A)
n.455C>A
c.177C>A (p.Leu59=)
19g.42249631A>CCA406113205ERFc.481T>G (p.Ser161Ala)
c.256T>G (p.Ser86Ala)
c.22+5347T>G (n.22+5347T>G)
n.454T>G
c.176T>G (p.Leu59Arg)
19g.42249631A>GCA406113206ERFc.481T>C (p.Ser161Pro)
c.256T>C (p.Ser86Pro)
c.22+5347T>C (n.22+5347T>C)
n.454T>C
c.176T>C (p.Leu59Pro)
19g.42249631A>TCA406113209ERFc.481T>A (p.Ser161Thr)
c.256T>A (p.Ser86Thr)
c.22+5347T>A (n.22+5347T>A)
n.454T>A
c.176T>A (p.Leu59His)
19g.42249632G>ACA406113215ERFc.480C>T (p.Arg160=)
c.255C>T (p.Arg85=)
c.22+5346C>T (n.22+5346C>T)
n.453C>T
c.175C>T (p.Leu59Phe)
 gnomAD v4
19g.42249632G>CCA406113213ERFc.480C>G (p.Arg160=)
c.255C>G (p.Arg85=)
c.22+5346C>G (n.22+5346C>G)
n.453C>G
c.175C>G (p.Leu59Val)
19g.42249632G=CA2336849558ERFc.480C= (p.Arg160=)
c.255C= (p.Arg85=)
c.22+5346C= (n.22+5346C=)
n.453C=
c.175C= (p.Leu59=)
19g.42249632G>TCA406113212ERFc.480C>A (p.Arg160=)
c.255C>A (p.Arg85=)
c.22+5346C>A (n.22+5346C>A)
n.453C>A
c.175C>A (p.Leu59Ile)
 dbSNP gnomAD v2 gnomAD v4
19g.42249633C>ACA406113217ERFc.479G>T (p.Arg160Leu)
c.254G>T (p.Arg85Leu)
c.22+5345G>T (n.22+5345G>T)
n.452G>T
c.174G>T (p.Pro58=)
19g.42249633C>GCA406113218ERFc.479G>C (p.Arg160Pro)
c.254G>C (p.Arg85Pro)
c.22+5345G>C (n.22+5345G>C)
n.452G>C
c.174G>C (p.Pro58=)
19g.42249633C>TCA406113219ERFc.479G>A (p.Arg160His)
c.254G>A (p.Arg85His)
c.22+5345G>A (n.22+5345G>A)
n.452G>A
c.174G>A (p.Pro58=)
 ClinVar gnomAD v4
19g.42249634G>ACA9471388ERFc.478C>T (p.Arg160Cys)
c.253C>T (p.Arg85Cys)
c.22+5344C>T (n.22+5344C>T)
n.451C>T
c.173C>T (p.Pro58Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.42249634G>CCA406113223ERFc.478C>G (p.Arg160Gly)
c.253C>G (p.Arg85Gly)
c.22+5344C>G (n.22+5344C>G)
n.451C>G
c.173C>G (p.Pro58Arg)
19g.42249634G=CA2336849559ERFc.478C= (p.Arg160=)
c.253C= (p.Arg85=)
c.22+5344C= (n.22+5344C=)
n.451C=
c.173C= (p.Pro58=)
19g.42249634G>TCA406113227ERFc.478C>A (p.Arg160Ser)
c.253C>A (p.Arg85Ser)
c.22+5344C>A (n.22+5344C>A)
n.451C>A
c.173C>A (p.Pro58Gln)
19g.42249635G>ACA406113231ERFc.477C>T (p.Pro159=)
c.252C>T (p.Pro84=)
c.22+5343C>T (n.22+5343C>T)
n.450C>T
c.172C>T (p.Pro58Ser)
19g.42249635G>CCA406113237ERFc.477C>G (p.Pro159=)
c.252C>G (p.Pro84=)
c.22+5343C>G (n.22+5343C>G)
n.450C>G
c.172C>G (p.Pro58Ala)
19g.42249635G=CA2336849560ERFc.477C= (p.Pro159=)
c.252C= (p.Pro84=)
c.22+5343C= (n.22+5343C=)
n.450C=
c.172C= (p.Pro58=)
19g.42249635G>TCA406113235ERFc.477C>A (p.Pro159=)
c.252C>A (p.Pro84=)
c.22+5343C>A (n.22+5343C>A)
n.450C>A
c.172C>A (p.Pro58Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.42249636G>ACA406113241ERFc.476C>T (p.Pro159Leu)
c.251C>T (p.Pro84Leu)
c.22+5342C>T (n.22+5342C>T)
n.449C>T
c.171C>T (p.Pro57=)
 gnomAD v4
19g.42249636G>CCA406113243ERFc.476C>G (p.Pro159Arg)
c.251C>G (p.Pro84Arg)
c.22+5342C>G (n.22+5342C>G)
n.449C>G
c.171C>G (p.Pro57=)
 gnomAD v4
19g.42249636G>TCA406113244ERFc.476C>A (p.Pro159His)
c.251C>A (p.Pro84His)
c.22+5342C>A (n.22+5342C>A)
n.449C>A
c.171C>A (p.Pro57=)
19g.42249637G>ACA406113245ERFc.475C>T (p.Pro159Ser)
c.250C>T (p.Pro84Ser)
c.22+5341C>T (n.22+5341C>T)
n.448C>T
c.170C>T (p.Pro57Leu)
 gnomAD v4
19g.42249637G>CCA9471389ERFc.475C>G (p.Pro159Ala)
c.250C>G (p.Pro84Ala)
c.22+5341C>G (n.22+5341C>G)
n.448C>G
c.170C>G (p.Pro57Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.42249637G=CA2336849561ERFc.475C= (p.Pro159=)
c.250C= (p.Pro84=)
c.22+5341C= (n.22+5341C=)
n.448C=
c.170C= (p.Pro57=)
19g.42249637G>TCA406113249ERFc.475C>A (p.Pro159Thr)
c.250C>A (p.Pro84Thr)
c.22+5341C>A (n.22+5341C>A)
n.448C>A
c.170C>A (p.Pro57His)
19g.42249638G>ACA9471390ERFc.474C>T (p.Asp158=)
c.249C>T (p.Asp83=)
c.22+5340C>T (n.22+5340C>T)
n.447C>T
c.169C>T (p.Pro57Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.42249638G>CCA406113256ERFc.474C>G (p.Asp158Glu)
c.249C>G (p.Asp83Glu)
c.22+5340C>G (n.22+5340C>G)
n.447C>G
c.169C>G (p.Pro57Ala)
19g.42249638G=CA2336849562ERFc.474C= (p.Asp158=)
c.249C= (p.Asp83=)
c.22+5340C= (n.22+5340C=)
n.447C=
c.169C= (p.Pro57=)
19g.42249638G>TCA406113259ERFc.474C>A (p.Asp158Glu)
c.249C>A (p.Asp83Glu)
c.22+5340C>A (n.22+5340C>A)
n.447C>A
c.169C>A (p.Pro57Thr)
19g.42249639T>ACA406113260ERFc.473A>T (p.Asp158Val)
c.248A>T (p.Asp83Val)
c.22+5339A>T (n.22+5339A>T)
n.446A>T
c.168A>T (p.Gly56=)
19g.42249639T>CCA406113261ERFc.473A>G (p.Asp158Gly)
c.248A>G (p.Asp83Gly)
c.22+5339A>G (n.22+5339A>G)
n.446A>G
c.168A>G (p.Gly56=)
19g.42249639T>GCA406113262ERFc.473A>C (p.Asp158Ala)
c.248A>C (p.Asp83Ala)
c.22+5339A>C (n.22+5339A>C)
n.446A>C
c.168A>C (p.Gly56=)
 dbSNP gnomAD v3 gnomAD v4
19g.42249639T=CA2336849563ERFc.473A= (p.Asp158=)
c.248A= (p.Asp83=)
c.22+5339A= (n.22+5339A=)
n.446A=
c.168A= (p.Gly56=)
19g.42249640C>ACA406113264ERFc.472G>T (p.Asp158Tyr)
c.247G>T (p.Asp83Tyr)
c.22+5338G>T (n.22+5338G>T)
n.445G>T
c.167G>T (p.Gly56Val)
19g.42249640C=CA2336849564ERFc.472G= (p.Asp158=)
c.247G= (p.Asp83=)
c.22+5338G= (n.22+5338G=)
n.445G=
c.167G= (p.Gly56=)
19g.42249640C>GCA406113267ERFc.472G>C (p.Asp158His)
c.247G>C (p.Asp83His)
c.22+5338G>C (n.22+5338G>C)
n.445G>C
c.167G>C (p.Gly56Ala)
19g.42249640C>TCA406113266ERFc.472G>A (p.Asp158Asn)
c.247G>A (p.Asp83Asn)
c.22+5338G>A (n.22+5338G>A)
n.445G>A
c.167G>A (p.Gly56Glu)
 dbSNP gnomAD v2 gnomAD v4
19g.42249641C>ACA406113271ERFc.471G>T (p.Glu157Asp)
c.246G>T (p.Glu82Asp)
c.22+5337G>T (n.22+5337G>T)
n.444G>T
c.166G>T (p.Gly56Ter)
19g.42249641C=CA2336849565ERFc.471G= (p.Glu157=)
c.246G= (p.Glu82=)
c.22+5337G= (n.22+5337G=)
n.444G=
c.166G= (p.Gly56=)
19g.42249641C>GCA406113274ERFc.471G>C (p.Glu157Asp)
c.246G>C (p.Glu82Asp)
c.22+5337G>C (n.22+5337G>C)
n.444G>C
c.166G>C (p.Gly56Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.42249641C>TCA406113278ERFc.471G>A (p.Glu157=)
c.246G>A (p.Glu82=)
c.22+5337G>A (n.22+5337G>A)
n.444G>A
c.166G>A (p.Gly56Arg)
 gnomAD v4
19g.42249642T>ACA406113283ERFc.470A>T (p.Glu157Val)
c.245A>T (p.Glu82Val)
c.22+5336A>T (n.22+5336A>T)
n.443A>T
c.165A>T (p.Arg55=)
19g.42249642T>CCA406113286ERFc.470A>G (p.Glu157Gly)
c.245A>G (p.Glu82Gly)
c.22+5336A>G (n.22+5336A>G)
n.443A>G
c.165A>G (p.Arg55=)
19g.42249642T>GCA406113288ERFc.470A>C (p.Glu157Ala)
c.245A>C (p.Glu82Ala)
c.22+5336A>C (n.22+5336A>C)
n.443A>C
c.165A>C (p.Arg55=)
19g.42249643C>ACA406113296ERFc.469G>T (p.Glu157Ter)
c.244G>T (p.Glu82Ter)
c.22+5335G>T (n.22+5335G>T)
n.442G>T
c.164G>T (p.Arg55Leu)
19g.42249643C=CA2336849566ERFc.469G= (p.Glu157=)
c.244G= (p.Glu82=)
c.22+5335G= (n.22+5335G=)
n.442G=
c.164G= (p.Arg55=)
19g.42249643C>GCA406113302ERFc.469G>C (p.Glu157Gln)
c.244G>C (p.Glu82Gln)
c.22+5335G>C (n.22+5335G>C)
n.442G>C
c.164G>C (p.Arg55Pro)
19g.42249643C>TCA406113304ERFc.469G>A (p.Glu157Lys)
c.244G>A (p.Glu82Lys)
c.22+5335G>A (n.22+5335G>A)
n.442G>A
c.164G>A (p.Arg55Gln)
 dbSNP gnomAD v2 gnomAD v4
19g.42249644G>ACA406113308ERFc.468C>T (p.Thr156=)
c.243C>T (p.Thr81=)
c.22+5334C>T (n.22+5334C>T)
n.441C>T
c.163C>T (p.Arg55Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.42249644G>CCA406113312ERFc.468C>G (p.Thr156=)
c.243C>G (p.Thr81=)
c.22+5334C>G (n.22+5334C>G)
n.441C>G
c.163C>G (p.Arg55Gly)
 gnomAD v4
19g.42249644G=CA2336849567ERFc.468C= (p.Thr156=)
c.243C= (p.Thr81=)
c.22+5334C= (n.22+5334C=)
n.441C=
c.163C= (p.Arg55=)
19g.42249644G>TCA507700615ERFc.468C>A (p.Thr156=)
c.243C>A (p.Thr81=)
c.22+5334C>A (n.22+5334C>A)
n.441C>A
c.163C>A (p.Arg55=)
19g.42249645G>ACA406113320ERFc.467C>T (p.Thr156Ile)
c.242C>T (p.Thr81Ile)
c.22+5333C>T (n.22+5333C>T)
n.440C>T
c.162C>T (p.His54=)
19g.42249645G>CCA406113318ERFc.467C>G (p.Thr156Ser)
c.242C>G (p.Thr81Ser)
c.22+5333C>G (n.22+5333C>G)
n.440C>G
c.162C>G (p.His54Gln)
 dbSNP
19g.42249645G=CA2336849568ERFc.467C= (p.Thr156=)
c.242C= (p.Thr81=)
c.22+5333C= (n.22+5333C=)
n.440C=
c.162C= (p.His54=)
19g.42249645G>TCA406113315ERFc.467C>A (p.Thr156Asn)
c.242C>A (p.Thr81Asn)
c.22+5333C>A (n.22+5333C>A)
n.440C>A
c.162C>A (p.His54Gln)
19g.42249646T>ACA406113327ERFc.466A>T (p.Thr156Ser)
c.241A>T (p.Thr81Ser)
c.22+5332A>T (n.22+5332A>T)
n.439A>T
c.161A>T (p.His54Leu)
19g.42249646T>CCA406113330ERFc.466A>G (p.Thr156Ala)
c.241A>G (p.Thr81Ala)
c.22+5332A>G (n.22+5332A>G)
n.439A>G
c.161A>G (p.His54Arg)
19g.42249646T>GCA406113332ERFc.466A>C (p.Thr156Pro)
c.241A>C (p.Thr81Pro)
c.22+5332A>C (n.22+5332A>C)
n.439A>C
c.161A>C (p.His54Pro)
 dbSNP
19g.42249646T=CA2336849569ERFc.466A= (p.Thr156=)
c.241A= (p.Thr81=)
c.22+5332A= (n.22+5332A=)
n.439A=
c.161A= (p.His54=)

Number of alleles fetched