Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.18130740delCA3650090TPMTc.669del (p.Phe223LeufsTer25)
c.624del (p.Phe208LeufsTer25)
c.600del (p.Phe200LeufsTer25)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.18130739A>CCA362832430TPMTc.667T>G (p.Phe223Val)
c.622T>G (p.Phe208Val)
c.598T>G (p.Phe200Val)
6g.18130739A>GCA362832432TPMTc.667T>C (p.Phe223Leu)
c.622T>C (p.Phe208Leu)
c.598T>C (p.Phe200Leu)
6g.18130739A>TCA362832434TPMTc.667T>A (p.Phe223Ile)
c.622T>A (p.Phe208Ile)
c.598T>A (p.Phe200Ile)
6g.18130740A>CCA448764714TPMTc.666T>G (p.Ala222=)
c.621T>G (p.Ala207=)
c.597T>G (p.Ala199=)
6g.18130740A>GCA448764712TPMTc.666T>C (p.Ala222=)
c.621T>C (p.Ala207=)
c.597T>C (p.Ala199=)
6g.18130740A>TCA448764713TPMTc.666T>A (p.Ala222=)
c.621T>A (p.Ala207=)
c.597T>A (p.Ala199=)
6g.18130741G>ACA362832436TPMTc.665C>T (p.Ala222Val)
c.620C>T (p.Ala207Val)
c.596C>T (p.Ala199Val)
6g.18130741G>CCA362832439TPMTc.665C>G (p.Ala222Gly)
c.620C>G (p.Ala207Gly)
c.596C>G (p.Ala199Gly)
dbSNP gnomAD v4
6g.18130741G=CA1613545805TPMTc.665C= (p.Ala222=)
c.620C= (p.Ala207=)
c.596C= (p.Ala199=)
6g.18130741G>TCA3650091TPMTc.665C>A (p.Ala222Asp)
c.620C>A (p.Ala207Asp)
c.596C>A (p.Ala199Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18130742C>ACA362832442TPMTc.664G>T (p.Ala222Ser)
c.619G>T (p.Ala207Ser)
c.595G>T (p.Ala199Ser)
6g.18130742C>GCA362832444TPMTc.664G>C (p.Ala222Pro)
c.619G>C (p.Ala207Pro)
c.595G>C (p.Ala199Pro)
6g.18130742C>TCA362832446TPMTc.664G>A (p.Ala222Thr)
c.619G>A (p.Ala207Thr)
c.595G>A (p.Ala199Thr)
6g.18130743A>CCA362832448TPMTc.663T>G (p.Asp221Glu)
c.618T>G (p.Asp206Glu)
c.594T>G (p.Asp198Glu)
6g.18130743A>GCA448764716TPMTc.663T>C (p.Asp221=)
c.618T>C (p.Asp206=)
c.594T>C (p.Asp198=)
6g.18130743A>TCA362832447TPMTc.663T>A (p.Asp221Glu)
c.618T>A (p.Asp206Glu)
c.594T>A (p.Asp198Glu)
6g.18130744T>ACA362832452TPMTc.662A>T (p.Asp221Val)
c.617A>T (p.Asp206Val)
c.593A>T (p.Asp198Val)
6g.18130744T>CCA362832455TPMTc.662A>G (p.Asp221Gly)
c.617A>G (p.Asp206Gly)
c.593A>G (p.Asp198Gly)
6g.18130744T>GCA362832457TPMTc.662A>C (p.Asp221Ala)
c.617A>C (p.Asp206Ala)
c.593A>C (p.Asp198Ala)
6g.18130745C>ACA362832460TPMTc.661G>T (p.Asp221Tyr)
c.616G>T (p.Asp206Tyr)
c.592G>T (p.Asp198Tyr)
6g.18130745C>GCA362832462TPMTc.661G>C (p.Asp221His)
c.616G>C (p.Asp206His)
c.592G>C (p.Asp198His)
gnomAD v4
6g.18130745C>TCA362832466TPMTc.661G>A (p.Asp221Asn)
c.616G>A (p.Asp206Asn)
c.592G>A (p.Asp198Asn)
6g.18130746A>CCA448764720TPMTc.660T>G (p.Val220=)
c.615T>G (p.Val205=)
c.591T>G (p.Val197=)
6g.18130746A>GCA448764721TPMTc.660T>C (p.Val220=)
c.615T>C (p.Val205=)
c.591T>C (p.Val197=)
6g.18130746A>TCA448764722TPMTc.660T>A (p.Val220=)
c.615T>A (p.Val205=)
c.591T>A (p.Val197=)
6g.18130747A=CA1613545809TPMTc.659T= (p.Val220=)
c.614T= (p.Val205=)
c.590T= (p.Val197=)
6g.18130747A>CCA362832471TPMTc.659T>G (p.Val220Gly)
c.614T>G (p.Val205Gly)
c.590T>G (p.Val197Gly)
6g.18130747A>GCA362832473TPMTc.659T>C (p.Val220Ala)
c.614T>C (p.Val205Ala)
c.590T>C (p.Val197Ala)
dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.18130747A>TCA362832475TPMTc.659T>A (p.Val220Asp)
c.614T>A (p.Val205Asp)
c.590T>A (p.Val197Asp)
6g.18130748C>ACA3650092TPMTc.658G>T (p.Val220Phe)
c.613G>T (p.Val205Phe)
c.589G>T (p.Val197Phe)
dbSNP ExAC gnomAD v4
6g.18130748C=CA1613545811TPMTc.658G= (p.Val220=)
c.613G= (p.Val205=)
c.589G= (p.Val197=)
6g.18130748C>GCA362832481TPMTc.658G>C (p.Val220Leu)
c.613G>C (p.Val205Leu)
c.589G>C (p.Val197Leu)
6g.18130748C>TCA362832483TPMTc.658G>A (p.Val220Ile)
c.613G>A (p.Val205Ile)
c.589G>A (p.Val197Ile)
6g.18130749C>ACA362832488TPMTc.657G>T (p.Lys219Asn)
c.612G>T (p.Lys204Asn)
c.588G>T (p.Lys196Asn)
6g.18130749C=CA1613545816TPMTc.657G= (p.Lys219=)
c.612G= (p.Lys204=)
c.588G= (p.Lys196=)
6g.18130749C>GCA362832491TPMTc.657G>C (p.Lys219Asn)
c.612G>C (p.Lys204Asn)
c.588G>C (p.Lys196Asn)
6g.18130749C>TCA448764727TPMTc.657G>A (p.Lys219=)
c.612G>A (p.Lys204=)
c.588G>A (p.Lys196=)
dbSNP gnomAD v4
6g.18130750T>ACA362832492TPMTc.656A>T (p.Lys219Met)
c.611A>T (p.Lys204Met)
c.587A>T (p.Lys196Met)
6g.18130750T>CCA362832495TPMTc.656A>G (p.Lys219Arg)
c.611A>G (p.Lys204Arg)
c.587A>G (p.Lys196Arg)
dbSNP gnomAD v3 gnomAD v4
6g.18130750T>GCA362832494TPMTc.656A>C (p.Lys219Thr)
c.611A>C (p.Lys204Thr)
c.587A>C (p.Lys196Thr)
gnomAD v4
6g.18130750T=CA1613545819TPMTc.656A= (p.Lys219=)
c.611A= (p.Lys204=)
c.587A= (p.Lys196=)
6g.18130751T>ACA362832497TPMTc.655A>T (p.Lys219Ter)
c.610A>T (p.Lys204Ter)
c.586A>T (p.Lys196Ter)
6g.18130751T>CCA362832498TPMTc.655A>G (p.Lys219Glu)
c.610A>G (p.Lys204Glu)
c.586A>G (p.Lys196Glu)
6g.18130751T>GCA362832501TPMTc.655A>C (p.Lys219Gln)
c.610A>C (p.Lys204Gln)
c.586A>C (p.Lys196Gln)
6g.18130752C>ACA362832506TPMTc.654G>T (p.Glu218Asp)
c.609G>T (p.Glu203Asp)
c.585G>T (p.Glu195Asp)
6g.18130752C>GCA362832508TPMTc.654G>C (p.Glu218Asp)
c.609G>C (p.Glu203Asp)
c.585G>C (p.Glu195Asp)
6g.18130752C>TCA448764729TPMTc.654G>A (p.Glu218=)
c.609G>A (p.Glu203=)
c.585G>A (p.Glu195=)
6g.18130753T>ACA362832510TPMTc.653A>T (p.Glu218Val)
c.608A>T (p.Glu203Val)
c.584A>T (p.Glu195Val)
6g.18130753T>CCA362832512TPMTc.653A>G (p.Glu218Gly)
c.608A>G (p.Glu203Gly)
c.584A>G (p.Glu195Gly)
6g.18130753T>GCA362832514TPMTc.653A>C (p.Glu218Ala)
c.608A>C (p.Glu203Ala)
c.584A>C (p.Glu195Ala)
6g.18130754C>ACA362832517TPMTc.652G>T (p.Glu218Ter)
c.607G>T (p.Glu203Ter)
c.583G>T (p.Glu195Ter)
gnomAD v4
6g.18130754C>GCA362832529TPMTc.652G>C (p.Glu218Gln)
c.607G>C (p.Glu203Gln)
c.583G>C (p.Glu195Gln)
6g.18130754C>TCA362832533TPMTc.652G>A (p.Glu218Lys)
c.607G>A (p.Glu203Lys)
c.583G>A (p.Glu195Lys)
6g.18130755A>CCA448764736TPMTc.651T>G (p.Leu217=)
c.606T>G (p.Leu202=)
c.582T>G (p.Leu194=)
6g.18130755A>GCA448764733TPMTc.651T>C (p.Leu217=)
c.606T>C (p.Leu202=)
c.582T>C (p.Leu194=)
6g.18130755A>TCA448764734TPMTc.651T>A (p.Leu217=)
c.606T>A (p.Leu202=)
c.582T>A (p.Leu194=)
6g.18130756A>CCA362832537TPMTc.650T>G (p.Leu217Arg)
c.605T>G (p.Leu202Arg)
c.581T>G (p.Leu194Arg)
6g.18130756A>GCA362832536TPMTc.650T>C (p.Leu217Pro)
c.605T>C (p.Leu202Pro)
c.581T>C (p.Leu194Pro)
6g.18130756A>TCA362832535TPMTc.650T>A (p.Leu217His)
c.605T>A (p.Leu202His)
c.581T>A (p.Leu194His)
6g.18130757G>ACA362832538TPMTc.649C>T (p.Leu217Phe)
c.604C>T (p.Leu202Phe)
c.580C>T (p.Leu194Phe)
6g.18130757G>CCA362832540TPMTc.649C>G (p.Leu217Val)
c.604C>G (p.Leu202Val)
c.580C>G (p.Leu194Val)
6g.18130757G>TCA362832543TPMTc.649C>A (p.Leu217Ile)
c.604C>A (p.Leu202Ile)
c.580C>A (p.Leu194Ile)
6g.18130758A=CA1613545827TPMTc.648T= (p.Cys216=)
c.603T= (p.Cys201=)
c.579T= (p.Cys193=)
6g.18130758A>CCA362832548TPMTc.648T>G (p.Cys216Trp)
c.603T>G (p.Cys201Trp)
c.579T>G (p.Cys193Trp)
6g.18130758A>GCA448764738TPMTc.648T>C (p.Cys216=)
c.603T>C (p.Cys201=)
c.579T>C (p.Cys193=)
6g.18130758A>TCA220129TPMTc.648T>A (p.Cys216Ter)
c.603T>A (p.Cys201Ter)
c.579T>A (p.Cys193Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18130759C>ACA362832557TPMTc.647G>T (p.Cys216Phe)
c.602G>T (p.Cys201Phe)
c.578G>T (p.Cys193Phe)
gnomAD v4 COSMIC
6g.18130759C=CA1613545833TPMTc.647G= (p.Cys216=)
c.602G= (p.Cys201=)
c.578G= (p.Cys193=)
6g.18130759C>GCA362832564TPMTc.647G>C (p.Cys216Ser)
c.602G>C (p.Cys201Ser)
c.578G>C (p.Cys193Ser)
6g.18130759C>TCA3650093TPMTc.647G>A (p.Cys216Tyr)
c.602G>A (p.Cys201Tyr)
c.578G>A (p.Cys193Tyr)
dbSNP ExAC gnomAD v4
6g.18130761_18130772delCA2677457494TPMTc.636_647del (p.Asn213_Cys216del)
c.591_602del (p.Asn198_Cys201del)
c.567_578del (p.Asn190_Cys193del)
gnomAD v4
6g.18130760A=CA1613545836TPMTc.646T= (p.Cys216=)
c.601T= (p.Cys201=)
c.577T= (p.Cys193=)
6g.18130760A>CCA362832578TPMTc.646T>G (p.Cys216Gly)
c.601T>G (p.Cys201Gly)
c.577T>G (p.Cys193Gly)
6g.18130760A>GCA3650094TPMTc.646T>C (p.Cys216Arg)
c.601T>C (p.Cys201Arg)
c.577T>C (p.Cys193Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.18130760A>TCA362832604TPMTc.646T>A (p.Cys216Ser)
c.601T>A (p.Cys201Ser)
c.577T>A (p.Cys193Ser)
6g.18130761A>CCA448764741TPMTc.645T>G (p.Arg215=)
c.600T>G (p.Arg200=)
c.576T>G (p.Arg192=)
6g.18130761A>GCA448764742TPMTc.645T>C (p.Arg215=)
c.600T>C (p.Arg200=)
c.576T>C (p.Arg192=)
6g.18130761A>TCA448764743TPMTc.645T>A (p.Arg215=)
c.600T>A (p.Arg200=)
c.576T>A (p.Arg192=)
6g.18130762C>ACA362832615TPMTc.644G>T (p.Arg215Leu)
c.599G>T (p.Arg200Leu)
c.575G>T (p.Arg192Leu)
6g.18130762C=CA1613545842TPMTc.644G= (p.Arg215=)
c.599G= (p.Arg200=)
c.575G= (p.Arg192=)
6g.18130762C>GCA362832609TPMTc.644G>C (p.Arg215Pro)
c.599G>C (p.Arg200Pro)
c.575G>C (p.Arg192Pro)
6g.18130762C>TCA122647TPMTc.644G>A (p.Arg215His)
c.599G>A (p.Arg200His)
c.575G>A (p.Arg192His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18130763G>ACA3650095TPMTc.643C>T (p.Arg215Cys)
c.598C>T (p.Arg200Cys)
c.574C>T (p.Arg192Cys)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.18130763G>CCA362832638TPMTc.643C>G (p.Arg215Gly)
c.598C>G (p.Arg200Gly)
c.574C>G (p.Arg192Gly)
6g.18130763G=CA1613545848TPMTc.643C= (p.Arg215=)
c.598C= (p.Arg200=)
c.574C= (p.Arg192=)
6g.18130763G>TCA362832640TPMTc.643C>A (p.Arg215Ser)
c.598C>A (p.Arg200Ser)
c.574C>A (p.Arg192Ser)
COSMIC
6g.18130764T>ACA448764747TPMTc.642A>T (p.Ile214=)
c.597A>T (p.Ile199=)
c.573A>T (p.Ile191=)
6g.18130764T>CCA362832647TPMTc.642A>G (p.Ile214Met)
c.597A>G (p.Ile199Met)
c.573A>G (p.Ile191Met)
6g.18130764T>GCA448764746TPMTc.642A>C (p.Ile214=)
c.597A>C (p.Ile199=)
c.573A>C (p.Ile191=)
6g.18130765A>CCA362832652TPMTc.641T>G (p.Ile214Arg)
c.596T>G (p.Ile199Arg)
c.572T>G (p.Ile191Arg)
6g.18130765A>GCA362832667TPMTc.641T>C (p.Ile214Thr)
c.596T>C (p.Ile199Thr)
c.572T>C (p.Ile191Thr)
gnomAD v4
6g.18130765A>TCA362832677TPMTc.641T>A (p.Ile214Lys)
c.596T>A (p.Ile199Lys)
c.572T>A (p.Ile191Lys)
6g.18130766T>ACA362832683TPMTc.640A>T (p.Ile214Leu)
c.595A>T (p.Ile199Leu)
c.571A>T (p.Ile191Leu)
6g.18130766T>CCA362832688TPMTc.640A>G (p.Ile214Val)
c.595A>G (p.Ile199Val)
c.571A>G (p.Ile191Val)
gnomAD v4
6g.18130766T>GCA362832702TPMTc.640A>C (p.Ile214Leu)
c.595A>C (p.Ile199Leu)
c.571A>C (p.Ile191Leu)
6g.18130767A=CA1613545850TPMTc.639T= (p.Asn213=)
c.594T= (p.Asn198=)
c.570T= (p.Asn190=)
6g.18130767A>CCA362832706TPMTc.639T>G (p.Asn213Lys)
c.594T>G (p.Asn198Lys)
c.570T>G (p.Asn190Lys)
6g.18130767A>GCA3650096TPMTc.639T>C (p.Asn213=)
c.594T>C (p.Asn198=)
c.570T>C (p.Asn190=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.18130767A>TCA362832710TPMTc.639T>A (p.Asn213Lys)
c.594T>A (p.Asn198Lys)
c.570T>A (p.Asn190Lys)
6g.18130768T>ACA362832723TPMTc.638A>T (p.Asn213Ile)
c.593A>T (p.Asn198Ile)
c.569A>T (p.Asn190Ile)
6g.18130768T>CCA362832712TPMTc.638A>G (p.Asn213Ser)
c.593A>G (p.Asn198Ser)
c.569A>G (p.Asn190Ser)
dbSNP gnomAD v2 gnomAD v4
6g.18130768T>GCA362832717TPMTc.638A>C (p.Asn213Thr)
c.593A>C (p.Asn198Thr)
c.569A>C (p.Asn190Thr)
6g.18130768T=CA1613545855TPMTc.638A= (p.Asn213=)
c.593A= (p.Asn198=)
c.569A= (p.Asn190=)
6g.18130769T>ACA362832729TPMTc.637A>T (p.Asn213Tyr)
c.592A>T (p.Asn198Tyr)
c.568A>T (p.Asn190Tyr)
6g.18130769T>CCA362832733TPMTc.637A>G (p.Asn213Asp)
c.592A>G (p.Asn198Asp)
c.568A>G (p.Asn190Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.18130769T>GCA362832738TPMTc.637A>C (p.Asn213His)
c.592A>C (p.Asn198His)
c.568A>C (p.Asn190His)
6g.18130769T=CA1613545858TPMTc.637A= (p.Asn213=)
c.592A= (p.Asn198=)
c.568A= (p.Asn190=)
6g.18130770G>ACA448764756TPMTc.636C>T (p.Cys212=)
c.591C>T (p.Cys197=)
c.567C>T (p.Cys189=)
6g.18130770G>CCA362832751TPMTc.636C>G (p.Cys212Trp)
c.591C>G (p.Cys197Trp)
c.567C>G (p.Cys189Trp)
6g.18130770G>TCA362832754TPMTc.636C>A (p.Cys212Ter)
c.591C>A (p.Cys197Ter)
c.567C>A (p.Cys189Ter)
6g.18130771C>ACA362832763TPMTc.635G>T (p.Cys212Phe)
c.590G>T (p.Cys197Phe)
c.566G>T (p.Cys189Phe)
6g.18130771C>GCA362832773TPMTc.635G>C (p.Cys212Ser)
c.590G>C (p.Cys197Ser)
c.566G>C (p.Cys189Ser)
6g.18130771C>TCA362832775TPMTc.635G>A (p.Cys212Tyr)
c.590G>A (p.Cys197Tyr)
c.566G>A (p.Cys189Tyr)
6g.18130772A=CA1613545863TPMTc.634T= (p.Cys212=)
c.589T= (p.Cys197=)
c.565T= (p.Cys189=)
6g.18130772A>CCA362832779TPMTc.634T>G (p.Cys212Gly)
c.589T>G (p.Cys197Gly)
c.565T>G (p.Cys189Gly)
6g.18130772A>GCA134961564TPMTc.634T>C (p.Cys212Arg)
c.589T>C (p.Cys197Arg)
c.565T>C (p.Cys189Arg)
dbSNP
6g.18130772A>TCA362832786TPMTc.634T>A (p.Cys212Ser)
c.589T>A (p.Cys197Ser)
c.565T>A (p.Cys189Ser)
6g.18130773T>ACA448764761TPMTc.633A>T (p.Ile211=)
c.588A>T (p.Ile196=)
c.564A>T (p.Ile188=)
6g.18130773T>CCA362832790TPMTc.633A>G (p.Ile211Met)
c.588A>G (p.Ile196Met)
c.564A>G (p.Ile188Met)
6g.18130773T>GCA448764762TPMTc.633A>C (p.Ile211=)
c.588A>C (p.Ile196=)
c.564A>C (p.Ile188=)
6g.18130774A>CCA362832795TPMTc.632T>G (p.Ile211Arg)
c.587T>G (p.Ile196Arg)
c.563T>G (p.Ile188Arg)
6g.18130774A>GCA362832799TPMTc.632T>C (p.Ile211Thr)
c.587T>C (p.Ile196Thr)
c.563T>C (p.Ile188Thr)
6g.18130774A>TCA362832792TPMTc.632T>A (p.Ile211Lys)
c.587T>A (p.Ile196Lys)
c.563T>A (p.Ile188Lys)
6g.18130775T>ACA362832808TPMTc.631A>T (p.Ile211Leu)
c.586A>T (p.Ile196Leu)
c.562A>T (p.Ile188Leu)
6g.18130775T>CCA362832806TPMTc.631A>G (p.Ile211Val)
c.586A>G (p.Ile196Val)
c.562A>G (p.Ile188Val)
6g.18130775T>GCA362832810TPMTc.631A>C (p.Ile211Leu)
c.586A>C (p.Ile196Leu)
c.562A>C (p.Ile188Leu)
6g.18130778delCA2677457496TPMTc.631del (p.Ile211TyrfsTer?)
c.586del (p.Ile196TyrfsTer?)
c.562del (p.Ile188TyrfsTer?)
gnomAD v4
6g.18130776T>ACA362832813TPMTc.630A>T (p.Lys210Asn)
c.585A>T (p.Lys195Asn)
c.561A>T (p.Lys187Asn)
6g.18130776T>CCA448764765TPMTc.630A>G (p.Lys210=)
c.585A>G (p.Lys195=)
c.561A>G (p.Lys187=)
6g.18130776T>GCA362832815TPMTc.630A>C (p.Lys210Asn)
c.585A>C (p.Lys195Asn)
c.561A>C (p.Lys187Asn)
6g.18130777T>ACA362832818TPMTc.629A>T (p.Lys210Ile)
c.584A>T (p.Lys195Ile)
c.560A>T (p.Lys187Ile)
6g.18130777T>CCA362832822TPMTc.629A>G (p.Lys210Arg)
c.584A>G (p.Lys195Arg)
c.560A>G (p.Lys187Arg)
6g.18130777T>GCA362832826TPMTc.629A>C (p.Lys210Thr)
c.584A>C (p.Lys195Thr)
c.560A>C (p.Lys187Thr)
6g.18130778T>ACA362832830TPMTc.628A>T (p.Lys210Ter)
c.583A>T (p.Lys195Ter)
c.559A>T (p.Lys187Ter)
6g.18130778T>CCA362832835TPMTc.628A>G (p.Lys210Glu)
c.583A>G (p.Lys195Glu)
c.559A>G (p.Lys187Glu)
6g.18130778T>GCA362832837TPMTc.628A>C (p.Lys210Gln)
c.583A>C (p.Lys195Gln)
c.559A>C (p.Lys187Gln)
6g.18130779A>CCA448764767TPMTc.627T>G (p.Gly209=)
c.582T>G (p.Gly194=)
c.558T>G (p.Gly186=)
6g.18130779A>GCA448764768TPMTc.627T>C (p.Gly209=)
c.582T>C (p.Gly194=)
c.558T>C (p.Gly186=)
6g.18130779A>TCA448764769TPMTc.627T>A (p.Gly209=)
c.582T>A (p.Gly194=)
c.558T>A (p.Gly186=)
6g.18130780C>ACA362832843TPMTc.626G>T (p.Gly209Val)
c.581G>T (p.Gly194Val)
c.557G>T (p.Gly186Val)
6g.18130780C>GCA362832845TPMTc.626G>C (p.Gly209Ala)
c.581G>C (p.Gly194Ala)
c.557G>C (p.Gly186Ala)
6g.18130780C>TCA362832848TPMTc.626G>A (p.Gly209Asp)
c.581G>A (p.Gly194Asp)
c.557G>A (p.Gly186Asp)
gnomAD v4
6g.18130781C>ACA362832853TPMTc.626-1G>T (n.626-1G>T)
c.581-1G>T (n.581-1G>T)
c.557-1G>T (n.557-1G>T)
6g.18130781C=CA1613545868TPMTc.626-1G= (n.626-1G=)
c.581-1G= (n.581-1G=)
c.557-1G= (n.557-1G=)
6g.18130781C>GCA362832854TPMTc.626-1G>C (n.626-1G>C)
c.581-1G>C (n.581-1G>C)
c.557-1G>C (n.557-1G>C)
6g.18130781C>TCA358449TPMTc.626-1G>A (n.626-1G>A)
c.581-1G>A (n.581-1G>A)
c.557-1G>A (n.557-1G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18130782T>ACA362832867TPMTc.626-2A>T (n.626-2A>T)
c.581-2A>T (n.581-2A>T)
c.557-2A>T (n.557-2A>T)
gnomAD v4
6g.18130782T>CCA362832864TPMTc.626-2A>G (n.626-2A>G)
c.581-2A>G (n.581-2A>G)
c.557-2A>G (n.557-2A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.18130782T>GCA362832859TPMTc.626-2A>C (n.626-2A>C)
c.581-2A>C (n.581-2A>C)
c.557-2A>C (n.557-2A>C)
6g.18130782T=CA1613545876TPMTc.626-2A= (n.626-2A=)
c.581-2A= (n.581-2A=)
c.557-2A= (n.557-2A=)
6g.18130783G>CCA645551456TPMTc.626-3C>G (n.626-3C>G)
c.581-3C>G (n.581-3C>G)
c.557-3C>G (n.557-3C>G)
gnomAD v4 COSMIC
6g.18130783G>TCA2677457498TPMTc.626-3C>A (n.626-3C>A)
c.581-3C>A (n.581-3C>A)
c.557-3C>A (n.557-3C>A)
gnomAD v4
6g.18130788A>GCA2677457500TPMTc.626-8T>C (n.626-8T>C)
c.581-8T>C (n.581-8T>C)
c.557-8T>C (n.557-8T>C)
gnomAD v4
6g.18130788_18130789insTGTAACA2677457499TPMTc.626-8_626-7insTACAT (n.626-8_626-7insTACAT)
c.581-8_581-7insTACAT (n.581-8_581-7insTACAT)
c.557-8_557-7insTACAT (n.557-8_557-7insTACAT)
gnomAD v4
6g.18130793delCA2677457501TPMTc.626-11del (n.626-11del)
c.581-11del (n.581-11del)
c.557-11del (n.557-11del)
gnomAD v4
6g.18130793A=CA1613545879TPMTc.626-13T= (n.626-13T=)
c.581-13T= (n.581-13T=)
c.557-13T= (n.557-13T=)
6g.18130793A>GCA1613545880TPMTc.626-13T>C (n.626-13T>C)
c.581-13T>C (n.581-13T>C)
c.557-13T>C (n.557-13T>C)
dbSNP gnomAD v4
6g.18130794G>CCA2677457502TPMTc.626-14C>G (n.626-14C>G)
c.581-14C>G (n.581-14C>G)
c.557-14C>G (n.557-14C>G)
gnomAD v4
6g.18130796G>ACA2677457503TPMTc.626-16C>T (n.626-16C>T)
c.581-16C>T (n.581-16C>T)
c.557-16C>T (n.557-16C>T)
gnomAD v4
6g.18130797T>CCA565555016TPMTc.626-17A>G (n.626-17A>G)
c.581-17A>G (n.581-17A>G)
c.557-17A>G (n.557-17A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.18130797T=CA1613545882TPMTc.626-17A= (n.626-17A=)
c.581-17A= (n.581-17A=)
c.557-17A= (n.557-17A=)
6g.18130798A=CA1613545884TPMTc.626-18T= (n.626-18T=)
c.581-18T= (n.581-18T=)
c.557-18T= (n.557-18T=)
6g.18130798A>GCA1613545885TPMTc.626-18T>C (n.626-18T>C)
c.581-18T>C (n.581-18T>C)
c.557-18T>C (n.557-18T>C)
dbSNP gnomAD v4
6g.18130801A=CA1613545888TPMTc.626-21T= (n.626-21T=)
c.581-21T= (n.581-21T=)
c.557-21T= (n.557-21T=)
6g.18130801A>GCA3650097TPMTc.626-21T>C (n.626-21T>C)
c.581-21T>C (n.581-21T>C)
c.557-21T>C (n.557-21T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18130801A>TCA448764775TPMTc.626-21T>A (n.626-21T>A)
c.581-21T>A (n.581-21T>A)
c.557-21T>A (n.557-21T>A)
6g.18130802delCA2677457504TPMTc.626-22del (n.626-22del)
c.581-22del (n.581-22del)
c.557-22del (n.557-22del)
gnomAD v4
6g.18130802T>CCA3650098TPMTc.626-22A>G (n.626-22A>G)
c.581-22A>G (n.581-22A>G)
c.557-22A>G (n.557-22A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.18130802T=CA1613545890TPMTc.626-22A= (n.626-22A=)
c.581-22A= (n.581-22A=)
c.557-22A= (n.557-22A=)
6g.18130804T>CCA3650099TPMTc.626-24A>G (n.626-24A>G)
c.581-24A>G (n.581-24A>G)
c.557-24A>G (n.557-24A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.18130804T=CA1613545892TPMTc.626-24A= (n.626-24A=)
c.581-24A= (n.581-24A=)
c.557-24A= (n.557-24A=)
6g.18130805T>GCA2677457505TPMTc.626-25A>C (n.626-25A>C)
c.581-25A>C (n.581-25A>C)
c.557-25A>C (n.557-25A>C)
gnomAD v4
6g.18130808A>TCA2677457506TPMTc.626-28T>A (n.626-28T>A)
c.581-28T>A (n.581-28T>A)
c.557-28T>A (n.557-28T>A)
gnomAD v4
6g.18130813T>CCA3650100TPMTc.626-33A>G (n.626-33A>G)
c.581-33A>G (n.581-33A>G)
c.557-33A>G (n.557-33A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18130813T=CA1613545894TPMTc.626-33A= (n.626-33A=)
c.581-33A= (n.581-33A=)
c.557-33A= (n.557-33A=)
6g.18130814A=CA1613545898TPMTc.626-34T= (n.626-34T=)
c.581-34T= (n.581-34T=)
c.557-34T= (n.557-34T=)
6g.18130814A>GCA565555017TPMTc.626-34T>C (n.626-34T>C)
c.581-34T>C (n.581-34T>C)
c.557-34T>C (n.557-34T>C)
dbSNP gnomAD v2 gnomAD v4
6g.18130815T>CCA134961570TPMTc.626-35A>G (n.626-35A>G)
c.581-35A>G (n.581-35A>G)
c.557-35A>G (n.557-35A>G)
dbSNP gnomAD v3 gnomAD v4
6g.18130815T=CA1613545902TPMTc.626-35A= (n.626-35A=)
c.581-35A= (n.581-35A=)
c.557-35A= (n.557-35A=)
6g.18130816G>TCA2570092848TPMTc.626-36C>A (n.626-36C>A)
c.581-36C>A (n.581-36C>A)
c.557-36C>A (n.557-36C>A)
gnomAD v4
6g.18130819G=CA1613545904TPMTc.626-39C= (n.626-39C=)
c.581-39C= (n.581-39C=)
c.557-39C= (n.557-39C=)
6g.18130819G>TCA822712599TPMTc.626-39C>A (n.626-39C>A)
c.581-39C>A (n.581-39C>A)
c.557-39C>A (n.557-39C>A)
dbSNP gnomAD v3 gnomAD v4
6g.18130823G>ACA2677457507TPMTc.626-43C>T (n.626-43C>T)
c.581-43C>T (n.581-43C>T)
c.557-43C>T (n.557-43C>T)
gnomAD v4
6g.18130823G>TCA2677457508TPMTc.626-43C>A (n.626-43C>A)
c.581-43C>A (n.581-43C>A)
c.557-43C>A (n.557-43C>A)
gnomAD v4
6g.18130824A=CA1613545906TPMTc.626-44T= (n.626-44T=)
c.581-44T= (n.581-44T=)
c.557-44T= (n.557-44T=)
6g.18130824A>GCA1086467287TPMTc.626-44T>C (n.626-44T>C)
c.581-44T>C (n.581-44T>C)
c.557-44T>C (n.557-44T>C)
dbSNP gnomAD v3 gnomAD v4
6g.18130825C>ACA2677457509TPMTc.626-45G>T (n.626-45G>T)
c.581-45G>T (n.581-45G>T)
c.557-45G>T (n.557-45G>T)
gnomAD v4
6g.18130825C=CA1613545910TPMTc.626-45G= (n.626-45G=)
c.581-45G= (n.581-45G=)
c.557-45G= (n.557-45G=)
6g.18130825C>TCA3650101TPMTc.626-45G>A (n.626-45G>A)
c.581-45G>A (n.581-45G>A)
c.557-45G>A (n.557-45G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.18130826A=CA1613545912TPMTc.626-46T= (n.626-46T=)
c.581-46T= (n.581-46T=)
c.557-46T= (n.557-46T=)
6g.18130826A>CCA2677457510TPMTc.626-46T>G (n.626-46T>G)
c.581-46T>G (n.581-46T>G)
c.557-46T>G (n.557-46T>G)
gnomAD v4
6g.18130826A>GCA134961572TPMTc.626-46T>C (n.626-46T>C)
c.581-46T>C (n.581-46T>C)
c.557-46T>C (n.557-46T>C)
dbSNP
6g.18130826A>TCA2578538791TPMTc.626-46T>A (n.626-46T>A)
c.581-46T>A (n.581-46T>A)
c.557-46T>A (n.557-46T>A)
6g.18130827_18130831delinsTCAGGCA1613545914TPMTc.626-51_626-47delinsCCTGA (n.626-51_626-47delinsCCTGA)
c.581-51_581-47delinsCCTGA (n.581-51_581-47delinsCCTGA)
c.557-51_557-47delinsCCTGA (n.557-51_557-47delinsCCTGA)
6g.18130828C>ACA2528698028TPMTc.626-48G>T (n.626-48G>T)
c.581-48G>T (n.581-48G>T)
c.557-48G>T (n.557-48G>T)
6g.18130828C>TCA2677457511TPMTc.626-48G>A (n.626-48G>A)
c.581-48G>A (n.581-48G>A)
c.557-48G>A (n.557-48G>A)
gnomAD v4
6g.18130828_18130831delCA3650102TPMTc.626-51_626-48del (n.626-51_626-48del)
c.581-51_581-48del (n.581-51_581-48del)
c.557-51_557-48del (n.557-51_557-48del)
dbSNP ExAC
6g.18130829_18130830insAAGTTCA2557184987TPMTc.626-50_626-49insAACTT (n.626-50_626-49insAACTT)
c.581-50_581-49insAACTT (n.581-50_581-49insAACTT)
c.557-50_557-49insAACTT (n.557-50_557-49insAACTT)
6g.18130831G>ACA2677457512TPMTc.626-51C>T (n.626-51C>T)
c.581-51C>T (n.581-51C>T)
c.557-51C>T (n.557-51C>T)
gnomAD v4
6g.18130832G>ACA2677457513TPMTc.626-52C>T (n.626-52C>T)
c.581-52C>T (n.581-52C>T)
c.557-52C>T (n.557-52C>T)
gnomAD v4
6g.18130832G>TCA2677457514TPMTc.626-52C>A (n.626-52C>A)
c.581-52C>A (n.581-52C>A)
c.557-52C>A (n.557-52C>A)
gnomAD v4
6g.18130833A=CA1613545916TPMTc.626-53T= (n.626-53T=)
c.581-53T= (n.581-53T=)
c.557-53T= (n.557-53T=)
6g.18130833A>GCA1613545917TPMTc.626-53T>C (n.626-53T>C)
c.581-53T>C (n.581-53T>C)
c.557-53T>C (n.557-53T>C)
dbSNP gnomAD v4
6g.18130834T>CCA2677457515TPMTc.626-54A>G (n.626-54A>G)
c.581-54A>G (n.581-54A>G)
c.557-54A>G (n.557-54A>G)
gnomAD v4
6g.18130835T>ACA362832891TPMTc.626-55A>T (n.626-55A>T)
c.581-55A>T (n.581-55A>T)
c.557-55A>T (n.557-55A>T)
dbSNP gnomAD v4
6g.18130835T>CCA822712608TPMTc.626-55A>G (n.626-55A>G)
c.581-55A>G (n.581-55A>G)
c.557-55A>G (n.557-55A>G)
dbSNP gnomAD v3 gnomAD v4
6g.18130835T=CA1613545920TPMTc.626-55A= (n.626-55A=)
c.581-55A= (n.581-55A=)
c.557-55A= (n.557-55A=)
6g.18130836C>TCA2578538793TPMTc.626-56G>A (n.626-56G>A)
c.581-56G>A (n.581-56G>A)
c.557-56G>A (n.557-56G>A)
6g.18130837T>CCA2677457516TPMTc.626-57A>G (n.626-57A>G)
c.581-57A>G (n.581-57A>G)
c.557-57A>G (n.557-57A>G)
gnomAD v4
6g.18130837T>GCA2677457517TPMTc.626-57A>C (n.626-57A>C)
c.581-57A>C (n.581-57A>C)
c.557-57A>C (n.557-57A>C)
gnomAD v4
6g.18130840delCA2578538795TPMTc.626-57del (n.626-57del)
c.581-57del (n.581-57del)
c.557-57del (n.557-57del)

Number of alleles fetched