Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154993127G>ACA255063F8c.410C>T (p.Thr137Ile)
c.*196C>T (n.*196C>T)
c.305C>T (p.Thr102Ile)
c.392C>T (p.Thr131Ile)
ClinVar dbSNP
Xg.154993127G>CCA414919791F8c.410C>G (p.Thr137Ser)
c.*196C>G (n.*196C>G)
c.305C>G (p.Thr102Ser)
c.392C>G (p.Thr131Ser)
Xg.154993127G=CA2466856569F8c.410C= (p.Thr137=)
c.*196C= (n.*196C=)
c.305C= (p.Thr102=)
c.392C= (p.Thr131=)
Xg.154993127G>TCA414919792F8c.410C>A (p.Thr137Asn)
c.*196C>A (n.*196C>A)
c.305C>A (p.Thr102Asn)
c.392C>A (p.Thr131Asn)
Xg.154993128T>ACA414919793F8c.409A>T (p.Thr137Ser)
c.*195A>T (n.*195A>T)
c.304A>T (p.Thr102Ser)
c.391A>T (p.Thr131Ser)
Xg.154993128T>CCA414919794F8c.409A>G (p.Thr137Ala)
c.*195A>G (n.*195A>G)
c.304A>G (p.Thr102Ala)
c.391A>G (p.Thr131Ala)
gnomAD v4
Xg.154993128T>GCA414919795F8c.409A>C (p.Thr137Pro)
c.*195A>C (n.*195A>C)
c.304A>C (p.Thr102Pro)
c.391A>C (p.Thr131Pro)
Xg.154993129C>ACA414919796F8c.408G>T (p.Gln136His)
c.*194G>T (n.*194G>T)
c.303G>T (p.Gln101His)
c.390G>T (p.Gln130His)
gnomAD v4
Xg.154993129C>GCA414919797F8c.408G>C (p.Gln136His)
c.*194G>C (n.*194G>C)
c.303G>C (p.Gln101His)
c.390G>C (p.Gln130His)
Xg.154993129C>TCA519373468F8c.408G>A (p.Gln136=)
c.*194G>A (n.*194G>A)
c.303G>A (p.Gln101=)
c.390G>A (p.Gln130=)
Xg.154993130T>ACA414919798F8c.407A>T (p.Gln136Leu)
c.*193A>T (n.*193A>T)
c.302A>T (p.Gln101Leu)
c.389A>T (p.Gln130Leu)
Xg.154993130T>CCA414919799F8c.407A>G (p.Gln136Arg)
c.*193A>G (n.*193A>G)
c.302A>G (p.Gln101Arg)
c.389A>G (p.Gln130Arg)
Xg.154993130T>GCA414919800F8c.407A>C (p.Gln136Pro)
c.*193A>C (n.*193A>C)
c.302A>C (p.Gln101Pro)
c.389A>C (p.Gln130Pro)
Xg.154993131G>ACA414919803F8c.406C>T (p.Gln136Ter)
c.*192C>T (n.*192C>T)
c.301C>T (p.Gln101Ter)
c.388C>T (p.Gln130Ter)
COSMIC COSMIC
Xg.154993131G>CCA414919802F8c.406C>G (p.Gln136Glu)
c.*192C>G (n.*192C>G)
c.301C>G (p.Gln101Glu)
c.388C>G (p.Gln130Glu)
Xg.154993131G>TCA414919801F8c.406C>A (p.Gln136Lys)
c.*192C>A (n.*192C>A)
c.301C>A (p.Gln101Lys)
c.388C>A (p.Gln130Lys)
Xg.154993132A>CCA414919805F8c.405T>G (p.Asp135Glu)
c.*191T>G (n.*191T>G)
c.300T>G (p.Asp100Glu)
c.387T>G (p.Asp129Glu)
Xg.154993132A>GCA519373476F8c.405T>C (p.Asp135=)
c.*191T>C (n.*191T>C)
c.300T>C (p.Asp100=)
c.387T>C (p.Asp129=)
Xg.154993132A>TCA414919804F8c.405T>A (p.Asp135Glu)
c.*191T>A (n.*191T>A)
c.300T>A (p.Asp100Glu)
c.387T>A (p.Asp129Glu)
Xg.154993133T>ACA414919806F8c.404A>T (p.Asp135Val)
c.*190A>T (n.*190A>T)
c.299A>T (p.Asp100Val)
c.386A>T (p.Asp129Val)
Xg.154993133T>CCA255062F8c.404A>G (p.Asp135Gly)
c.*190A>G (n.*190A>G)
c.299A>G (p.Asp100Gly)
c.386A>G (p.Asp129Gly)
ClinVar dbSNP
Xg.154993133T>GCA414919807F8c.404A>C (p.Asp135Ala)
c.*190A>C (n.*190A>C)
c.299A>C (p.Asp100Ala)
c.386A>C (p.Asp129Ala)
Xg.154993133T=CA2466856570F8c.404A= (p.Asp135=)
c.*190A= (n.*190A=)
c.299A= (p.Asp100=)
c.386A= (p.Asp129=)
Xg.154993134C>ACA414919808F8c.403G>T (p.Asp135Tyr)
c.*189G>T (n.*189G>T)
c.298G>T (p.Asp100Tyr)
c.385G>T (p.Asp129Tyr)
ClinVar dbSNP
Xg.154993134C=CA2466856571F8c.403G= (p.Asp135=)
c.*189G= (n.*189G=)
c.298G= (p.Asp100=)
c.385G= (p.Asp129=)
Xg.154993134C>GCA414919809F8c.403G>C (p.Asp135His)
c.*189G>C (n.*189G>C)
c.298G>C (p.Asp100His)
c.385G>C (p.Asp129His)
Xg.154993134C>TCA414919810F8c.403G>A (p.Asp135Asn)
c.*189G>A (n.*189G>A)
c.298G>A (p.Asp100Asn)
c.385G>A (p.Asp129Asn)
Xg.154993135A=CA2466856572F8c.402T= (p.Asp134=)
c.*188T= (n.*188T=)
c.297T= (p.Asp99=)
c.384T= (p.Asp128=)
Xg.154993135A>CCA414919811F8c.402T>G (p.Asp134Glu)
c.*188T>G (n.*188T>G)
c.297T>G (p.Asp99Glu)
c.384T>G (p.Asp128Glu)
Xg.154993135A>GCA10568588F8c.402T>C (p.Asp134=)
c.*188T>C (n.*188T>C)
c.297T>C (p.Asp99=)
c.384T>C (p.Asp128=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154993135A>TCA414919812F8c.402T>A (p.Asp134Glu)
c.*188T>A (n.*188T>A)
c.297T>A (p.Asp99Glu)
c.384T>A (p.Asp128Glu)
Xg.154993136T>ACA414919813F8c.401A>T (p.Asp134Val)
c.*187A>T (n.*187A>T)
c.296A>T (p.Asp99Val)
c.383A>T (p.Asp128Val)
Xg.154993136T>CCA414919814F8c.401A>G (p.Asp134Gly)
c.*187A>G (n.*187A>G)
c.296A>G (p.Asp99Gly)
c.383A>G (p.Asp128Gly)
Xg.154993136T>GCA414919815F8c.401A>C (p.Asp134Ala)
c.*187A>C (n.*187A>C)
c.296A>C (p.Asp99Ala)
c.383A>C (p.Asp128Ala)
Xg.154993137C>ACA414919816F8c.400G>T (p.Asp134Tyr)
c.*186G>T (n.*186G>T)
c.295G>T (p.Asp99Tyr)
c.382G>T (p.Asp128Tyr)
Xg.154993137C>GCA414919818F8c.400G>C (p.Asp134His)
c.*186G>C (n.*186G>C)
c.295G>C (p.Asp99His)
c.382G>C (p.Asp128His)
Xg.154993137C>TCA414919817F8c.400G>A (p.Asp134Asn)
c.*186G>A (n.*186G>A)
c.295G>A (p.Asp99Asn)
c.382G>A (p.Asp128Asn)
Xg.154993137_154993138dupCA2695238469F8c.399_400dup (p.Asp134ValfsTer28)
c.*185_*186dup (n.*185_*186dup)
c.294_295dup (p.Asp99ValfsTer28)
c.381_382dup (p.Asp128ValfsTer28)
Xg.154993138A>CCA414919819F8c.399T>G (p.Tyr133Ter)
c.*185T>G (n.*185T>G)
c.294T>G (p.Tyr98Ter)
c.381T>G (p.Tyr127Ter)
Xg.154993138A>GCA519373496F8c.399T>C (p.Tyr133=)
c.*185T>C (n.*185T>C)
c.294T>C (p.Tyr98=)
c.381T>C (p.Tyr127=)
Xg.154993138A>TCA414919820F8c.399T>A (p.Tyr133Ter)
c.*185T>A (n.*185T>A)
c.294T>A (p.Tyr98Ter)
c.381T>A (p.Tyr127Ter)
Xg.154993139T>ACA414919821F8c.398A>T (p.Tyr133Phe)
c.*184A>T (n.*184A>T)
c.293A>T (p.Tyr98Phe)
c.380A>T (p.Tyr127Phe)
Xg.154993139T>CCA255061F8c.398A>G (p.Tyr133Cys)
c.*184A>G (n.*184A>G)
c.293A>G (p.Tyr98Cys)
c.380A>G (p.Tyr127Cys)
ClinVar dbSNP
Xg.154993139T>GCA414919822F8c.398A>C (p.Tyr133Ser)
c.*184A>C (n.*184A>C)
c.293A>C (p.Tyr98Ser)
c.380A>C (p.Tyr127Ser)
Xg.154993139T=CA2466856573F8c.398A= (p.Tyr133=)
c.*184A= (n.*184A=)
c.293A= (p.Tyr98=)
c.380A= (p.Tyr127=)
Xg.154993140A=CA2466856574F8c.397T= (p.Tyr133=)
c.*183T= (n.*183T=)
c.292T= (p.Tyr98=)
c.379T= (p.Tyr127=)
Xg.154993140A>CCA414919823F8c.397T>G (p.Tyr133Asp)
c.*183T>G (n.*183T>G)
c.292T>G (p.Tyr98Asp)
c.379T>G (p.Tyr127Asp)
Xg.154993140A>GCA414919824F8c.397T>C (p.Tyr133His)
c.*183T>C (n.*183T>C)
c.292T>C (p.Tyr98His)
c.379T>C (p.Tyr127His)
dbSNP
Xg.154993140A>TCA414919825F8c.397T>A (p.Tyr133Asn)
c.*183T>A (n.*183T>A)
c.292T>A (p.Tyr98Asn)
c.379T>A (p.Tyr127Asn)
Xg.154993141T>ACA414919826F8c.396A>T (p.Glu132Asp)
c.*182A>T (n.*182A>T)
c.291A>T (p.Glu97Asp)
c.378A>T (p.Glu126Asp)

Number of alleles fetched