Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.72891436G>ACA347232626SPRc.685G>A (p.Gly229Arg)
n.630G>A
2g.72891436G>CCA347232630SPRc.685G>C (p.Gly229Arg)
n.630G>C
2g.72891436G>TCA347232628SPRc.685G>T (p.Gly229Trp)
n.630G>T
2g.72891437G>ACA347232632SPRc.686G>A (p.Gly229Glu)
n.631G>A
gnomAD v4
2g.72891437G>CCA347232636SPRc.686G>C (p.Gly229Ala)
n.631G>C
2g.72891437G>TCA347232634SPRc.686G>T (p.Gly229Val)
n.631G>T
2g.72891438G>ACA426703563SPRc.687G>A (p.Gly229=)
n.632G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.72891438G>CCA426703564SPRc.687G>C (p.Gly229=)
n.632G>C
2g.72891438G=CA1260705216SPRc.687G= (p.Gly229=)
n.632G=
2g.72891438G>TCA426703565SPRc.687G>T (p.Gly229=)
n.632G>T
2g.72891439A=CA1260705217SPRc.688A= (p.Lys230=)
n.633A=
2g.72891439A>CCA347232638SPRc.688A>C (p.Lys230Gln)
n.633A>C
2g.72891439A>GCA347232640SPRc.688A>G (p.Lys230Glu)
n.633A>G
2g.72891439A>TCA1709020SPRc.688A>T (p.Lys230Ter)
n.633A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.72891440A>CCA347232642SPRc.689A>C (p.Lys230Thr)
n.634A>C
2g.72891440A>GCA347232644SPRc.689A>G (p.Lys230Arg)
n.634A>G
2g.72891440A>TCA347232646SPRc.689A>T (p.Lys230Met)
n.634A>T
2g.72891441G>ACA426703568SPRc.690G>A (p.Lys230=)
n.635G>A
2g.72891441G>CCA347232648SPRc.690G>C (p.Lys230Asn)
n.635G>C
dbSNP
2g.72891441G=CA1260705218SPRc.690G= (p.Lys230=)
n.635G=
2g.72891441G>TCA347232649SPRc.690G>T (p.Lys230Asn)
n.635G>T
2g.72891442C>ACA347232651SPRc.691C>A (p.Leu231Met)
n.636C>A
2g.72891442C>GCA347232653SPRc.691C>G (p.Leu231Val)
n.636C>G
2g.72891442C>TCA426703573SPRc.691C>T (p.Leu231=)
n.636C>T
2g.72891443T>ACA347232655SPRc.692T>A (p.Leu231Gln)
n.637T>A
2g.72891443T>CCA347232659SPRc.692T>C (p.Leu231Pro)
n.637T>C
2g.72891443T>GCA347232657SPRc.692T>G (p.Leu231Arg)
n.637T>G
2g.72891444G>ACA49798599SPRc.693G>A (p.Leu231=)
n.638G>A
dbSNP gnomAD v4
2g.72891444G>CCA426703576SPRc.693G>C (p.Leu231=)
n.638G>C
2g.72891444G=CA1260705219SPRc.693G= (p.Leu231=)
n.638G=
2g.72891444G>TCA426703577SPRc.693G>T (p.Leu231=)
n.638G>T
gnomAD v4
2g.72891445G>ACA347232663SPRc.694G>A (p.Val232Met)
n.639G>A
2g.72891445G>CCA347232664SPRc.694G>C (p.Val232Leu)
n.639G>C
2g.72891445G>TCA347232665SPRc.694G>T (p.Val232Leu)
n.639G>T
2g.72891446T>ACA347232668SPRc.695T>A (p.Val232Glu)
n.640T>A
2g.72891446T>CCA347232672SPRc.695T>C (p.Val232Ala)
n.640T>C
COSMIC
2g.72891446T>GCA347232670SPRc.695T>G (p.Val232Gly)
n.640T>G
2g.72891447G>ACA426703581SPRc.696G>A (p.Val232=)
n.641G>A
gnomAD v4
2g.72891447G>CCA426703583SPRc.696G>C (p.Val232=)
n.641G>C
2g.72891447G>TCA426703584SPRc.696G>T (p.Val232=)
n.641G>T
2g.72891448G>ACA347232674SPRc.697G>A (p.Asp233Asn)
n.642G>A
2g.72891448G>CCA347232676SPRc.697G>C (p.Asp233His)
n.642G>C
2g.72891448G>TCA347232678SPRc.697G>T (p.Asp233Tyr)
n.642G>T
2g.72891449A>CCA347232680SPRc.698A>C (p.Asp233Ala)
n.643A>C
2g.72891449A>GCA347232682SPRc.698A>G (p.Asp233Gly)
n.643A>G
2g.72891449A>TCA347232684SPRc.698A>T (p.Asp233Val)
n.643A>T
2g.72891450T>ACA347232686SPRc.699T>A (p.Asp233Glu)
n.644T>A
2g.72891450T>CCA426703588SPRc.699T>C (p.Asp233=)
n.644T>C
ClinVar
2g.72891450T>GCA347232687SPRc.699T>G (p.Asp233Glu)
n.644T>G
2g.72891451T>ACA347232690SPRc.700T>A (p.Cys234Ser)
n.645T>A
2g.72891451T>CCA347232692SPRc.700T>C (p.Cys234Arg)
n.645T>C
2g.72891451T>GCA347232694SPRc.700T>G (p.Cys234Gly)
n.645T>G
2g.72891452G>ACA1709022SPRc.701G>A (p.Cys234Tyr)
n.646G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72891452G>CCA1709021SPRc.701G>C (p.Cys234Ser)
n.646G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.72891452G=CA1260705220SPRc.701G= (p.Cys234=)
n.646G=
2g.72891452G>TCA347232697SPRc.701G>T (p.Cys234Phe)
n.646G>T
COSMIC
2g.72891453C>ACA347232700SPRc.702C>A (p.Cys234Ter)
n.647C>A
2g.72891453C>GCA347232702SPRc.702C>G (p.Cys234Trp)
n.647C>G
2g.72891453C>TCA426703597SPRc.702C>T (p.Cys234=)
n.647C>T
2g.72891454A>CCA347232704SPRc.703A>C (p.Lys235Gln)
n.648A>C
2g.72891454A>GCA347232705SPRc.703A>G (p.Lys235Glu)
n.648A>G
2g.72891454A>TCA347232707SPRc.703A>T (p.Lys235Ter)
n.648A>T
2g.72891455A>CCA347232709SPRc.704A>C (p.Lys235Thr)
n.649A>C
2g.72891455A>GCA347232711SPRc.704A>G (p.Lys235Arg)
n.649A>G
2g.72891455A>TCA347232713SPRc.704A>T (p.Lys235Met)
n.649A>T
2g.72891456G>ACA426703602SPRc.705G>A (p.Lys235=)
n.650G>A
2g.72891456G>CCA347232715SPRc.705G>C (p.Lys235Asn)
n.650G>C
dbSNP gnomAD v4
2g.72891456G=CA1260705221SPRc.705G= (p.Lys235=)
n.650G=
2g.72891456G>TCA347232717SPRc.705G>T (p.Lys235Asn)
n.650G>T
2g.72891457G>ACA1709023SPRc.706G>A (p.Val236Met)
n.651G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72891457G>CCA347232721SPRc.706G>C (p.Val236Leu)
n.651G>C
2g.72891457G=CA1260705222SPRc.706G= (p.Val236=)
n.651G=
2g.72891457G>TCA1709024SPRc.706G>T (p.Val236Leu)
n.651G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.72891458T>ACA347232724SPRc.707T>A (p.Val236Glu)
n.652T>A
2g.72891458T>CCA347232726SPRc.707T>C (p.Val236Ala)
n.652T>C
COSMIC
2g.72891458T>GCA347232728SPRc.707T>G (p.Val236Gly)
n.652T>G
2g.72891459G>ACA426703609SPRc.708G>A (p.Val236=)
n.653G>A
dbSNP gnomAD v3 gnomAD v4
2g.72891459G>CCA426703611SPRc.708G>C (p.Val236=)
n.653G>C
2g.72891459G=CA1260705223SPRc.708G= (p.Val236=)
n.653G=
2g.72891459G>TCA426703612SPRc.708G>T (p.Val236=)
n.653G>T
COSMIC
2g.72891460T>ACA347232730SPRc.709T>A (p.Ser237Thr)
n.654T>A
2g.72891460T>CCA347232732SPRc.709T>C (p.Ser237Pro)
n.654T>C
2g.72891460T>GCA347232733SPRc.709T>G (p.Ser237Ala)
n.654T>G
2g.72891461C>ACA347232736SPRc.710C>A (p.Ser237Ter)
n.655C>A
gnomAD v4
2g.72891461C>GCA347232738SPRc.710C>G (p.Ser237Ter)
n.655C>G
2g.72891461C>TCA347232739SPRc.710C>T (p.Ser237Leu)
n.655C>T
gnomAD v4
2g.72891462A>CCA426703617SPRc.711A>C (p.Ser237=)
n.656A>C
2g.72891462A>GCA426703619SPRc.711A>G (p.Ser237=)
n.656A>G
2g.72891462A>TCA426703620SPRc.711A>T (p.Ser237=)
n.656A>T
2g.72891463G>ACA347232742SPRc.712G>A (p.Ala238Thr)
n.657G>A
2g.72891463G>CCA347232744SPRc.712G>C (p.Ala238Pro)
n.657G>C
2g.72891463G>TCA347232746SPRc.712G>T (p.Ala238Ser)
n.657G>T
2g.72891464C>ACA347232750SPRc.713C>A (p.Ala238Asp)
n.658C>A
2g.72891464C>GCA347232752SPRc.713C>G (p.Ala238Gly)
n.658C>G
2g.72891464C>TCA347232748SPRc.713C>T (p.Ala238Val)
n.658C>T
2g.72891465C>ACA426703630SPRc.714C>A (p.Ala238=)
n.659C>A
2g.72891465C>GCA426703629SPRc.714C>G (p.Ala238=)
n.659C>G
2g.72891465C>TCA426703627SPRc.714C>T (p.Ala238=)
n.659C>T
2g.72891466C>ACA347232757SPRc.715C>A (p.Gln239Lys)
n.660C>A
2g.72891466C=CA1260705224SPRc.715C= (p.Gln239=)
n.660C=
2g.72891466C>GCA347232754SPRc.715C>G (p.Gln239Glu)
n.660C>G
2g.72891466C>TCA1709025SPRc.715C>T (p.Gln239Ter)
n.660C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.72891467A>CCA347232759SPRc.716A>C (p.Gln239Pro)
n.661A>C
2g.72891467A>GCA347232761SPRc.716A>G (p.Gln239Arg)
n.661A>G
2g.72891467A>TCA347232763SPRc.716A>T (p.Gln239Leu)
n.661A>T
2g.72891468G>ACA426703634SPRc.717G>A (p.Gln239=)
n.662G>A
2g.72891468G>CCA347232765SPRc.717G>C (p.Gln239His)
n.662G>C
2g.72891468G>TCA347232767SPRc.717G>T (p.Gln239His)
n.662G>T
2g.72891469A>CCA347232769SPRc.718A>C (p.Lys240Gln)
n.663A>C
2g.72891469A>GCA347232771SPRc.718A>G (p.Lys240Glu)
n.663A>G
gnomAD v4
2g.72891469A>TCA347232773SPRc.718A>T (p.Lys240Ter)
n.663A>T
2g.72891470A>CCA347232774SPRc.719A>C (p.Lys240Thr)
n.664A>C
2g.72891470A>GCA347232776SPRc.719A>G (p.Lys240Arg)
n.664A>G
2g.72891470A>TCA347232778SPRc.719A>T (p.Lys240Ile)
n.664A>T
2g.72891471A>CCA347232780SPRc.720A>C (p.Lys240Asn)
n.665A>C
2g.72891471A>GCA426703642SPRc.720A>G (p.Lys240=)
n.665A>G
gnomAD v4
2g.72891471A>TCA347232782SPRc.720A>T (p.Lys240Asn)
n.665A>T
2g.72891472C>ACA347232785SPRc.721C>A (p.Leu241Met)
n.666C>A
2g.72891472C=CA1260705225SPRc.721C= (p.Leu241=)
n.666C=
2g.72891472C>GCA347232786SPRc.721C>G (p.Leu241Val)
n.666C>G
2g.72891472C>TCA1709026SPRc.721C>T (p.Leu241=)
n.666C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72891473T>ACA347232788SPRc.722T>A (p.Leu241Gln)
n.667T>A
2g.72891473T>CCA347232790SPRc.722T>C (p.Leu241Pro)
n.667T>C
2g.72891473T>GCA347232792SPRc.722T>G (p.Leu241Arg)
n.667T>G
2g.72891474G>ACA426703652SPRc.723G>A (p.Leu241=)
n.668G>A
2g.72891474G>CCA426703651SPRc.723G>C (p.Leu241=)
n.668G>C
2g.72891474G>TCA426703650SPRc.723G>T (p.Leu241=)
n.668G>T
2g.72891477_72891481delCA2577002020SPRc.726_730del (p.Ser243ThrfsTer16)
n.671_675del
2g.72891475C>ACA347232794SPRc.724C>A (p.Leu242Met)
n.669C>A
2g.72891475C>GCA347232795SPRc.724C>G (p.Leu242Val)
n.669C>G
2g.72891475C>TCA426703654SPRc.724C>T (p.Leu242=)
n.669C>T
2g.72891476T>ACA347232796SPRc.725T>A (p.Leu242Gln)
n.670T>A
2g.72891476T>CCA347232797SPRc.725T>C (p.Leu242Pro)
n.670T>C
2g.72891476T>GCA49798643SPRc.725T>G (p.Leu242Arg)
n.670T>G
dbSNP gnomAD v4
2g.72891476T=CA1260705226SPRc.725T= (p.Leu242=)
n.670T=
2g.72891477G>ACA426703657SPRc.726G>A (p.Leu242=)
n.671G>A
gnomAD v4
2g.72891477G>CCA426703661SPRc.726G>C (p.Leu242=)
n.671G>C
2g.72891477G>TCA426703659SPRc.726G>T (p.Leu242=)
n.671G>T
2g.72891478A=CA1260705227SPRc.727A= (p.Ser243=)
n.672A=
2g.72891478A>CCA347232802SPRc.727A>C (p.Ser243Arg)
n.672A>C
2g.72891478A>GCA347232804SPRc.727A>G (p.Ser243Gly)
n.672A>G
dbSNP
2g.72891478A>TCA347232800SPRc.727A>T (p.Ser243Cys)
n.672A>T
2g.72891479G>ACA49798651SPRc.728G>A (p.Ser243Asn)
n.673G>A
dbSNP
2g.72891479G>CCA347232807SPRc.728G>C (p.Ser243Thr)
n.673G>C
2g.72891479G=CA1260705228SPRc.728G= (p.Ser243=)
n.673G=
2g.72891479G>TCA347232809SPRc.728G>T (p.Ser243Ile)
n.673G>T
2g.72891480C>ACA347232811SPRc.729C>A (p.Ser243Arg)
n.674C>A
2g.72891480C=CA1260705229SPRc.729C= (p.Ser243=)
n.674C=
2g.72891480C>GCA347232812SPRc.729C>G (p.Ser243Arg)
n.674C>G
2g.72891480C>TCA1709027SPRc.729C>T (p.Ser243=)
n.674C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.72891481T>ACA347232813SPRc.730T>A (p.Leu244Ile)
n.675T>A
2g.72891481T>CCA426703667SPRc.730T>C (p.Leu244=)
n.675T>C
dbSNP gnomAD v3 gnomAD v4
2g.72891481T>GCA347232814SPRc.730T>G (p.Leu244Val)
n.675T>G
2g.72891481T=CA1260705230SPRc.730T= (p.Leu244=)
n.675T=
2g.72891482T>ACA347232815SPRc.731T>A (p.Leu244Ter)
n.676T>A
2g.72891482T>CCA347232816SPRc.731T>C (p.Leu244Ser)
n.676T>C
2g.72891482T>GCA347232817SPRc.731T>G (p.Leu244Ter)
n.676T>G
2g.72891483A>CCA347232818SPRc.732A>C (p.Leu244Phe)
n.677A>C
2g.72891483A>GCA426703671SPRc.732A>G (p.Leu244=)
n.677A>G
gnomAD v4
2g.72891483A>TCA347232819SPRc.732A>T (p.Leu244Phe)
n.677A>T
2g.72891484C>ACA347232821SPRc.733C>A (p.Leu245Met)
n.678C>A
2g.72891484C=CA1260705231SPRc.733C= (p.Leu245=)
n.678C=
2g.72891484C>GCA347232820SPRc.733C>G (p.Leu245Val)
n.678C>G
2g.72891484C>TCA426703675SPRc.733C>T (p.Leu245=)
n.678C>T
dbSNP
2g.72891485T>ACA347232822SPRc.734T>A (p.Leu245Gln)
n.679T>A
2g.72891485T>CCA347232823SPRc.734T>C (p.Leu245Pro)
n.679T>C
2g.72891485T>GCA347232824SPRc.734T>G (p.Leu245Arg)
n.679T>G
2g.72891486G>ACA426703678SPRc.735G>A (p.Leu245=)
n.680G>A
2g.72891486G>CCA426703679SPRc.735G>C (p.Leu245=)
n.680G>C
2g.72891486G>TCA426703680SPRc.735G>T (p.Leu245=)
n.680G>T
2g.72891487G>ACA347232825SPRc.736G>A (p.Glu246Lys)
n.681G>A
2g.72891487G>CCA347232826SPRc.736G>C (p.Glu246Gln)
n.681G>C
dbSNP
2g.72891487G>TCA347232827SPRc.736G>T (p.Glu246Ter)
n.681G>T
2g.72891488A>CCA347232830SPRc.737A>C (p.Glu246Ala)
n.682A>C
2g.72891488A>GCA347232828SPRc.737A>G (p.Glu246Gly)
n.682A>G
2g.72891488A>TCA347232829SPRc.737A>T (p.Glu246Val)
n.682A>T
2g.72891489A>CCA347232831SPRc.738A>C (p.Glu246Asp)
n.683A>C
2g.72891489A>GCA426703688SPRc.738A>G (p.Glu246=)
n.683A>G
2g.72891489A>TCA347232832SPRc.738A>T (p.Glu246Asp)
n.683A>T
2g.72891490A=CA1260705232SPRc.739A= (p.Lys247=)
n.684A=
2g.72891490A>CCA347232833SPRc.739A>C (p.Lys247Gln)
n.684A>C
2g.72891490A>GCA347232834SPRc.739A>G (p.Lys247Glu)
n.684A>G
dbSNP gnomAD v2 gnomAD v4
2g.72891490A>TCA347232835SPRc.739A>T (p.Lys247Ter)
n.684A>T
2g.72891491A>CCA347232838SPRc.740A>C (p.Lys247Thr)
n.685A>C
2g.72891491A>GCA347232837SPRc.740A>G (p.Lys247Arg)
n.685A>G
COSMIC
2g.72891491A>TCA347232836SPRc.740A>T (p.Lys247Met)
n.685A>T
2g.72891492G>ACA426703690SPRc.741G>A (p.Lys247=)
n.686G>A
dbSNP gnomAD v4
2g.72891492G>CCA347232839SPRc.741G>C (p.Lys247Asn)
n.686G>C
2g.72891492G=CA1260705233SPRc.741G= (p.Lys247=)
n.686G=
2g.72891492G>TCA347232840SPRc.741G>T (p.Lys247Asn)
n.686G>T
2g.72891493G>ACA347232841SPRc.742G>A (p.Asp248Asn)
n.687G>A
dbSNP gnomAD v3 gnomAD v4
2g.72891493G>CCA347232842SPRc.742G>C (p.Asp248His)
n.687G>C
2g.72891493G=CA1260705235SPRc.742G= (p.Asp248=)
n.687G=
2g.72891493G>TCA347232843SPRc.742G>T (p.Asp248Tyr)
n.687G>T
2g.72891493_72891494dupCA1260705234SPRc.742_743dup (p.Asp248GlufsTer23)
n.687_688dup
dbSNP
2g.72891494A>CCA347232846SPRc.743A>C (p.Asp248Ala)
n.688A>C
2g.72891494A>GCA347232845SPRc.743A>G (p.Asp248Gly)
n.688A>G
2g.72891494A>TCA347232844SPRc.743A>T (p.Asp248Val)
n.688A>T
2g.72891495C>ACA347232847SPRc.744C>A (p.Asp248Glu)
n.689C>A
gnomAD v4
2g.72891495C=CA1260705236SPRc.744C= (p.Asp248=)
n.689C=
2g.72891495C>GCA347232848SPRc.744C>G (p.Asp248Glu)
n.689C>G
2g.72891495C>TCA1709028SPRc.744C>T (p.Asp248=)
n.689C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72891496G>ACA1709029SPRc.745G>A (p.Glu249Lys)
n.690G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.72891496G>CCA347232849SPRc.745G>C (p.Glu249Gln)
n.690G>C
dbSNP gnomAD v4
2g.72891496G=CA1260705238SPRc.745G= (p.Glu249=)
n.690G=
2g.72891496G>TCA347232850SPRc.745G>T (p.Glu249Ter)
n.690G>T
COSMIC
2g.72891497_72891498insTGACA1260705237SPRc.746_747insTGA (p.Asp248_Glu249insAsp)
n.691_692insTGA
dbSNP
2g.72891497A>CCA347232853SPRc.746A>C (p.Glu249Ala)
n.691A>C
2g.72891497A>GCA347232851SPRc.746A>G (p.Glu249Gly)
n.691A>G
2g.72891497A>TCA347232852SPRc.746A>T (p.Glu249Val)
n.691A>T
2g.72891497_72891507delinsAGTTCAAGTCTCA1260705239SPRc.746_756delinsAGTTCAAGTCT (p.Glu249=)
n.691_701delinsAGTTCAAGTCT
2g.72891498G>ACA426703697SPRc.747G>A (p.Glu249=)
n.692G>A
gnomAD v4
2g.72891498G>CCA347232854SPRc.747G>C (p.Glu249Asp)
n.692G>C
2g.72891498G>TCA347232855SPRc.747G>T (p.Glu249Asp)
n.692G>T
2g.72891499_72891508delCA1032173982SPRc.748_757del (p.Phe250GlufsTer17)
n.693_702del
dbSNP gnomAD v3 gnomAD v4
2g.72891499T>ACA347232856SPRc.748T>A (p.Phe250Ile)
n.693T>A
gnomAD v4
2g.72891499T>CCA347232857SPRc.748T>C (p.Phe250Leu)
n.693T>C
COSMIC
2g.72891499T>GCA347232858SPRc.748T>G (p.Phe250Val)
n.693T>G
2g.72891500T>ACA347232859SPRc.749T>A (p.Phe250Tyr)
n.694T>A
gnomAD v4
2g.72891500T>CCA347232860SPRc.749T>C (p.Phe250Ser)
n.694T>C
2g.72891500T>GCA347232861SPRc.749T>G (p.Phe250Cys)
n.694T>G
2g.72891501C>ACA347232862SPRc.750C>A (p.Phe250Leu)
n.695C>A
2g.72891501C>GCA347232863SPRc.750C>G (p.Phe250Leu)
n.695C>G
2g.72891501C>TCA426703702SPRc.750C>T (p.Phe250=)
n.695C>T
2g.72891502A=CA1260705240SPRc.751A= (p.Lys251=)
n.696A=
2g.72891502A>CCA347232864SPRc.751A>C (p.Lys251Gln)
n.696A>C
2g.72891502A>GCA347232865SPRc.751A>G (p.Lys251Glu)
n.696A>G
gnomAD v4
2g.72891502A>TCA122795SPRc.751A>T (p.Lys251Ter)
n.696A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72891503A>CCA347232868SPRc.752A>C (p.Lys251Thr)
n.697A>C
COSMIC
2g.72891503A>GCA347232866SPRc.752A>G (p.Lys251Arg)
n.697A>G
2g.72891503A>TCA347232867SPRc.752A>T (p.Lys251Met)
n.697A>T
2g.72891504G>ACA426703703SPRc.753G>A (p.Lys251=)
n.698G>A
2g.72891504G>CCA347232869SPRc.753G>C (p.Lys251Asn)
n.698G>C
2g.72891504G>TCA347232870SPRc.753G>T (p.Lys251Asn)
n.698G>T
COSMIC
2g.72891505T>ACA347232871SPRc.754T>A (p.Ser252Thr)
n.699T>A
2g.72891505T>CCA347232872SPRc.754T>C (p.Ser252Pro)
n.699T>C
2g.72891505T>GCA347232873SPRc.754T>G (p.Ser252Ala)
n.699T>G
dbSNP
2g.72891505T=CA1260705241SPRc.754T= (p.Ser252=)
n.699T=
2g.72891506C>ACA347232876SPRc.755C>A (p.Ser252Tyr)
n.700C>A
2g.72891506C>GCA347232875SPRc.755C>G (p.Ser252Cys)
n.700C>G
COSMIC
2g.72891506C>TCA347232874SPRc.755C>T (p.Ser252Phe)
n.700C>T
2g.72891506_72891508delinsCTGCA1260705242SPRc.755_757delinsCTG (p.Ser252=)
n.700_702delinsCTG
2g.72891507T>ACA426703709SPRc.756T>A (p.Ser252=)
n.701T>A
2g.72891507T>CCA426703706SPRc.756T>C (p.Ser252=)
n.701T>C
2g.72891507T>GCA426703708SPRc.756T>G (p.Ser252=)
n.701T>G
2g.72891507_72891508delCA49798701SPRc.756_757del (p.Gly253SerfsTer7)
n.701_702del
dbSNP
2g.72891508G>ACA347232877SPRc.757G>A (p.Gly253Arg)
n.702G>A
ClinVar dbSNP
2g.72891508G>CCA347232878SPRc.757G>C (p.Gly253Arg)
n.702G>C
2g.72891508G=CA1260705243SPRc.757G= (p.Gly253=)
n.702G=
2g.72891508G>TCA347232879SPRc.757G>T (p.Gly253Ter)
n.702G>T
2g.72891509G>ACA347232880SPRc.758G>A (p.Gly253Glu)
n.703G>A
2g.72891509G>CCA347232881SPRc.758G>C (p.Gly253Ala)
n.703G>C
2g.72891509G>TCA347232882SPRc.758G>T (p.Gly253Val)
n.703G>T
2g.72891510A>CCA426703711SPRc.759A>C (p.Gly253=)
n.704A>C
2g.72891510A>GCA426703712SPRc.759A>G (p.Gly253=)
n.704A>G
2g.72891510A>TCA426703713SPRc.759A>T (p.Gly253=)
n.704A>T
2g.72891511G>ACA347232885SPRc.760G>A (p.Ala254Thr)
n.705G>A
2g.72891511G>CCA347232883SPRc.760G>C (p.Ala254Pro)
n.705G>C
gnomAD v4
2g.72891511G>TCA347232884SPRc.760G>T (p.Ala254Ser)
n.705G>T
2g.72891512C>ACA347232886SPRc.761C>A (p.Ala254Asp)
n.706C>A
2g.72891512C>GCA347232887SPRc.761C>G (p.Ala254Gly)
n.706C>G
2g.72891512C>TCA347232888SPRc.761C>T (p.Ala254Val)
n.706C>T
2g.72891514delCA2577002021SPRc.763del (p.His255ThrfsTer15)
n.708del
2g.72891513C>ACA426703719SPRc.762C>A (p.Ala254=)
n.707C>A
gnomAD v4
2g.72891513C>GCA426703717SPRc.762C>G (p.Ala254=)
n.707C>G
2g.72891513C>TCA426703718SPRc.762C>T (p.Ala254=)
n.707C>T
ClinVar
2g.72891514C>ACA347232889SPRc.763C>A (p.His255Asn)
n.708C>A
2g.72891514C>GCA347232890SPRc.763C>G (p.His255Asp)
n.708C>G
2g.72891514C>TCA347232891SPRc.763C>T (p.His255Tyr)
n.708C>T
2g.72891515A>CCA347232892SPRc.764A>C (p.His255Pro)
n.709A>C
2g.72891515A>GCA347232893SPRc.764A>G (p.His255Arg)
n.709A>G
2g.72891515A>TCA347232894SPRc.764A>T (p.His255Leu)
n.709A>T
2g.72891516C>ACA347232895SPRc.765C>A (p.His255Gln)
n.710C>A
2g.72891516C=CA1260705244SPRc.765C= (p.His255=)
n.710C=
2g.72891516C>GCA347232896SPRc.765C>G (p.His255Gln)
n.710C>G
dbSNP gnomAD v2 gnomAD v4
2g.72891516C>TCA1709030SPRc.765C>T (p.His255=)
n.710C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.72891517G>ACA1709031SPRc.766G>A (p.Val256Met)
n.711G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72891517G>CCA347232898SPRc.766G>C (p.Val256Leu)
n.711G>C
2g.72891517G=CA1260705245SPRc.766G= (p.Val256=)
n.711G=
2g.72891517G>TCA347232897SPRc.766G>T (p.Val256Leu)
n.711G>T
2g.72891518T>ACA347232899SPRc.767T>A (p.Val256Glu)
n.712T>A
2g.72891518T>CCA347232901SPRc.767T>C (p.Val256Ala)
n.712T>C
2g.72891518T>GCA347232900SPRc.767T>G (p.Val256Gly)
n.712T>G
2g.72891519G>ACA426703724SPRc.768G>A (p.Val256=)
n.713G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.72891519G>CCA426703725SPRc.768G>C (p.Val256=)
n.713G>C
2g.72891519G=CA1260705246SPRc.768G= (p.Val256=)
n.713G=
2g.72891519G>TCA426703726SPRc.768G>T (p.Val256=)
n.713G>T
2g.72891520G>ACA347232902SPRc.769G>A (p.Asp257Asn)
n.714G>A
2g.72891520G>CCA49798719SPRc.769G>C (p.Asp257His)
n.714G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.72891520G=CA1260705247SPRc.769G= (p.Asp257=)
n.714G=
2g.72891520G>TCA347232903SPRc.769G>T (p.Asp257Tyr)
n.714G>T
2g.72891521A>CCA347232904SPRc.770A>C (p.Asp257Ala)
n.715A>C
2g.72891521A>GCA347232905SPRc.770A>G (p.Asp257Gly)
n.715A>G
2g.72891521A>TCA347232906SPRc.770A>T (p.Asp257Val)
n.715A>T
2g.72891522C>ACA347232907SPRc.771C>A (p.Asp257Glu)
n.716C>A
2g.72891522C>GCA347232908SPRc.771C>G (p.Asp257Glu)
n.716C>G
2g.72891522C>TCA426703729SPRc.771C>T (p.Asp257=)
n.716C>T
gnomAD v4
2g.72891523T>ACA347232909SPRc.772T>A (p.Phe258Ile)
n.717T>A
2g.72891523T>CCA347232910SPRc.772T>C (p.Phe258Leu)
n.717T>C
2g.72891523T>GCA347232911SPRc.772T>G (p.Phe258Val)
n.717T>G
2g.72891524T>ACA347232914SPRc.773T>A (p.Phe258Tyr)
n.718T>A
2g.72891524T>CCA347232913SPRc.773T>C (p.Phe258Ser)
n.718T>C
2g.72891524T>GCA347232912SPRc.773T>G (p.Phe258Cys)
n.718T>G
2g.72891525C>ACA347232915SPRc.774C>A (p.Phe258Leu)
n.719C>A
2g.72891525C>GCA347232916SPRc.774C>G (p.Phe258Leu)
n.719C>G
2g.72891525C>TCA426703733SPRc.774C>T (p.Phe258=)
n.719C>T
2g.72891526T>ACA347232917SPRc.775T>A (p.Tyr259Asn)
n.720T>A
2g.72891526T>CCA347232918SPRc.775T>C (p.Tyr259His)
n.720T>C
2g.72891526T>GCA347232919SPRc.775T>G (p.Tyr259Asp)
n.720T>G
2g.72891527A=CA1260705248SPRc.776A= (p.Tyr259=)
n.721A=
2g.72891527A>CCA347232920SPRc.776A>C (p.Tyr259Ser)
n.721A>C
2g.72891527A>GCA1709032SPRc.776A>G (p.Tyr259Cys)
n.721A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72891527A>TCA347232921SPRc.776A>T (p.Tyr259Phe)
n.721A>T
gnomAD v4
2g.72891528T>ACA347232922SPRc.777T>A (p.Tyr259Ter)
n.722T>A
2g.72891528T>CCA1709033SPRc.777T>C (p.Tyr259=)
n.722T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72891528T>GCA347232923SPRc.777T>G (p.Tyr259Ter)
n.722T>G
2g.72891528T=CA1260705249SPRc.777T= (p.Tyr259=)
n.722T=
2g.72891529G>ACA347232926SPRc.778G>A (p.Asp260Asn)
n.723G>A
2g.72891529G>CCA347232925SPRc.778G>C (p.Asp260His)
n.723G>C
2g.72891529G>TCA347232924SPRc.778G>T (p.Asp260Tyr)
n.723G>T
2g.72891530A=CA1260705250SPRc.779A= (p.Asp260=)
n.724A=
2g.72891530A>CCA347232927SPRc.779A>C (p.Asp260Ala)
n.724A>C
2g.72891530A>GCA1709034SPRc.779A>G (p.Asp260Gly)
n.724A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.72891530A>TCA347232928SPRc.779A>T (p.Asp260Val)
n.724A>T
2g.72891531delCA2577002022SPRc.780del (p.Asp260GlufsTer10)
n.725del
2g.72891531C>ACA347232929SPRc.780C>A (p.Asp260Glu)
n.725C>A
2g.72891531C>GCA347232930SPRc.780C>G (p.Asp260Glu)
n.725C>G
2g.72891531C>TCA426703735SPRc.780C>T (p.Asp260=)
n.725C>T
2g.72891531_72891535delinsCAAATCA1260705251SPRc.780_784delinsCAAAT (p.Asp260=)
n.725_729delinsCAAAT
2g.72891532A>CCA347232931SPRc.781A>C (p.Lys261Gln)
n.726A>C
2g.72891532A>GCA347232932SPRc.781A>G (p.Lys261Glu)
n.726A>G
2g.72891532A>TCA347232933SPRc.781A>T (p.Lys261Ter)
n.726A>T
2g.72891534_72891537delCA658653749SPRc.783_786del (p.Ter262ProextTer7)
n.728_731del
ClinVar dbSNP
2g.72891533A=CA1260705252SPRc.782A= (p.Lys261=)
n.727A=
2g.72891533A>CCA347232934SPRc.782A>C (p.Lys261Thr)
n.727A>C
2g.72891533A>GCA1709035SPRc.782A>G (p.Lys261Arg)
n.727A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72891533A>TCA347232935SPRc.782A>T (p.Lys261Ile)
n.727A>T
2g.72891534A>CCA347232936SPRc.783A>C (p.Lys261Asn)
n.728A>C
2g.72891534A>GCA426703736SPRc.783A>G (p.Lys261=)
n.728A>G
2g.72891534A>TCA347232937SPRc.783A>T (p.Lys261Asn)
n.728A>T
2g.72891535T>ACA347232940SPRc.784T>A (p.Ter262Lys)
n.729T>A
2g.72891535T>CCA347232938SPRc.784T>C (p.Ter262Gln)
n.729T>C
2g.72891535T>GCA347232939SPRc.784T>G (p.Ter262Glu)
n.729T>G
2g.72891536A=CA1260705253SPRc.785A= (p.Ter262=)
n.730A=
2g.72891536A>CCA347232941SPRc.785A>C (p.Ter262Ser)
n.730A>C
2g.72891536A>GCA1709036SPRc.785A>G (p.Ter262=)
n.730A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72891536A>TCA347232942SPRc.785A>T (p.Ter262Leu)
n.730A>T

Number of alleles fetched