Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.18138997C>ACA362835519TPMTc.460G>T (p.Ala154Ser)
c.391G>T (p.Ala131Ser)
dbSNP gnomAD v4
6g.18138997C=CA891834522TPMTc.460G= (p.Ala154=)
c.391G= (p.Ala131=)
6g.18138997C>GCA362835520TPMTc.460G>C (p.Ala154Pro)
c.391G>C (p.Ala131Pro)
6g.18138997C>TCA122645TPMTc.460G>A (p.Ala154Thr)
c.391G>A (p.Ala131Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18139000_18139002dupCA822716420TPMTc.458_460dup (p.Gly153_Ala154insGly)
c.389_391dup (p.Gly130_Ala131insGly)
dbSNP gnomAD v3 gnomAD v4
6g.18138998T>ACA448765242TPMTc.459A>T (p.Gly153=)
c.390A>T (p.Gly130=)
6g.18138998T>CCA448765243TPMTc.459A>G (p.Gly153=)
c.390A>G (p.Gly130=)
6g.18138998T>GCA448765244TPMTc.459A>C (p.Gly153=)
c.390A>C (p.Gly130=)
6g.18138999C>ACA362835524TPMTc.458G>T (p.Gly153Val)
c.389G>T (p.Gly130Val)
6g.18138999C>GCA362835526TPMTc.458G>C (p.Gly153Ala)
c.389G>C (p.Gly130Ala)
6g.18138999C>TCA362835530TPMTc.458G>A (p.Gly153Glu)
c.389G>A (p.Gly130Glu)
6g.18139000C>ACA362835532TPMTc.457G>T (p.Gly153Ter)
c.388G>T (p.Gly130Ter)
6g.18139000C>GCA362835533TPMTc.457G>C (p.Gly153Arg)
c.388G>C (p.Gly130Arg)
6g.18139000C>TCA362835536TPMTc.457G>A (p.Gly153Arg)
c.388G>A (p.Gly130Arg)
6g.18139001T>ACA362835543TPMTc.456A>T (p.Arg152Ser)
c.387A>T (p.Arg129Ser)
6g.18139001T>CCA448765249TPMTc.456A>G (p.Arg152=)
c.387A>G (p.Arg129=)
6g.18139001T>GCA362835545TPMTc.456A>C (p.Arg152Ser)
c.387A>C (p.Arg129Ser)
6g.18139002C>ACA362835547TPMTc.455G>T (p.Arg152Ile)
c.386G>T (p.Arg129Ile)
6g.18139002C=CA1613557636TPMTc.455G= (p.Arg152=)
c.386G= (p.Arg129=)
6g.18139002C>GCA362835549TPMTc.455G>C (p.Arg152Thr)
c.386G>C (p.Arg129Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.18139002C>TCA362835550TPMTc.455G>A (p.Arg152Lys)
c.386G>A (p.Arg129Lys)
6g.18139003T>ACA362835551TPMTc.454A>T (p.Arg152Ter)
c.385A>T (p.Arg129Ter)
6g.18139003T>CCA362835553TPMTc.454A>G (p.Arg152Gly)
c.385A>G (p.Arg129Gly)
6g.18139003T>GCA448765250TPMTc.454A>C (p.Arg152=)
c.385A>C (p.Arg129=)
gnomAD v4
6g.18139004A=CA1613557642TPMTc.453T= (p.Asp151=)
c.384T= (p.Asp128=)
6g.18139004A>CCA362835555TPMTc.453T>G (p.Asp151Glu)
c.384T>G (p.Asp128Glu)
6g.18139004A>GCA3650179TPMTc.453T>C (p.Asp151=)
c.384T>C (p.Asp128=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.18139004A>TCA362835561TPMTc.453T>A (p.Asp151Glu)
c.384T>A (p.Asp128Glu)
6g.18139005T>ACA362835562TPMTc.452A>T (p.Asp151Val)
c.383A>T (p.Asp128Val)
6g.18139005T>CCA362835564TPMTc.452A>G (p.Asp151Gly)
c.383A>G (p.Asp128Gly)
6g.18139005T>GCA362835565TPMTc.452A>C (p.Asp151Ala)
c.383A>C (p.Asp128Ala)
6g.18139006C>ACA362835566TPMTc.451G>T (p.Asp151Tyr)
c.382G>T (p.Asp128Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.18139006C=CA1613557648TPMTc.451G= (p.Asp151=)
c.382G= (p.Asp128=)
6g.18139006C>GCA362835569TPMTc.451G>C (p.Asp151His)
c.382G>C (p.Asp128His)
6g.18139006C>TCA362835570TPMTc.451G>A (p.Asp151Asn)
c.382G>A (p.Asp128Asn)
6g.18139006_18139007insACTTTCA2530385263TPMTc.450_451insAAAGT (p.Asp151LysfsTer7)
c.381_382insAAAGT (p.Asp128LysfsTer7)
6g.18139007C>ACA362835574TPMTc.450G>T (p.Trp150Cys)
c.381G>T (p.Trp127Cys)
6g.18139007C>GCA362835577TPMTc.450G>C (p.Trp150Cys)
c.381G>C (p.Trp127Cys)
6g.18139007C>TCA362835580TPMTc.450G>A (p.Trp150Ter)
c.381G>A (p.Trp127Ter)
6g.18139008C>ACA362835586TPMTc.449G>T (p.Trp150Leu)
c.380G>T (p.Trp127Leu)
gnomAD v4
6g.18139008C=CA1613557653TPMTc.449G= (p.Trp150=)
c.380G= (p.Trp127=)
6g.18139008C>GCA362835585TPMTc.449G>C (p.Trp150Ser)
c.380G>C (p.Trp127Ser)
6g.18139008C>TCA134966057TPMTc.449G>A (p.Trp150Ter)
c.380G>A (p.Trp127Ter)
dbSNP gnomAD v4
6g.18139009A=CA1613557656TPMTc.448T= (p.Trp150=)
c.379T= (p.Trp127=)
6g.18139009A>CCA362835589TPMTc.448T>G (p.Trp150Gly)
c.379T>G (p.Trp127Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.18139009A>GCA362835599TPMTc.448T>C (p.Trp150Arg)
c.379T>C (p.Trp127Arg)
6g.18139009A>TCA362835596TPMTc.448T>A (p.Trp150Arg)
c.379T>A (p.Trp127Arg)
6g.18139011delCA2578538837TPMTc.448del (p.Trp150GlyfsTer6)
c.379del (p.Trp127GlyfsTer6)
gnomAD v4
6g.18139010A>CCA362835601TPMTc.447T>G (p.Ile149Met)
c.378T>G (p.Ile126Met)
6g.18139010A>GCA448765252TPMTc.447T>C (p.Ile149=)
c.378T>C (p.Ile126=)

Number of alleles fetched