Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.46726056T>ACA380265360F2c.757T>A (p.Ser253Thr)
c.727T>A (p.Ser243Thr)
n.537T>A
c.709T>A (p.Ser237Thr)
n.801T>A
n.792T>A
11g.46726056T>CCA380265361F2c.757T>C (p.Ser253Pro)
c.727T>C (p.Ser243Pro)
n.537T>C
c.709T>C (p.Ser237Pro)
n.801T>C
n.792T>C
11g.46726056T>GCA380265364F2c.757T>G (p.Ser253Ala)
c.727T>G (p.Ser243Ala)
n.537T>G
c.709T>G (p.Ser237Ala)
n.801T>G
n.792T>G
11g.46726057C>ACA380265368F2c.758C>A (p.Ser253Ter)
c.728C>A (p.Ser243Ter)
n.538C>A
c.710C>A (p.Ser237Ter)
n.802C>A
n.793C>A
11g.46726057C>GCA380265365F2c.758C>G (p.Ser253Ter)
c.728C>G (p.Ser243Ter)
n.538C>G
c.710C>G (p.Ser237Ter)
n.802C>G
n.793C>G
11g.46726057C>TCA380265366F2c.758C>T (p.Ser253Leu)
c.728C>T (p.Ser243Leu)
n.538C>T
c.710C>T (p.Ser237Leu)
n.802C>T
n.793C>T
11g.46726058A=CA1969072203F2c.759A= (p.Ser253=)
c.729A= (p.Ser243=)
n.539A=
c.711A= (p.Ser237=)
n.803A=
n.794A=
11g.46726058A>CCA474043758F2c.759A>C (p.Ser253=)
c.729A>C (p.Ser243=)
n.539A>C
c.711A>C (p.Ser237=)
n.803A>C
n.794A>C
11g.46726058A>GCA474043759F2c.759A>G (p.Ser253=)
c.729A>G (p.Ser243=)
n.539A>G
c.711A>G (p.Ser237=)
n.803A>G
n.794A>G
11g.46726058A>TCA221652058F2c.759A>T (p.Ser253=)
c.729A>T (p.Ser243=)
n.539A>T
c.711A>T (p.Ser237=)
n.803A>T
n.794A>T
 dbSNP gnomAD v4
11g.46726059G>ACA380265372F2c.760G>A (p.Ala254Thr)
c.730G>A (p.Ala244Thr)
n.540G>A
c.712G>A (p.Ala238Thr)
n.804G>A
n.795G>A
11g.46726059G>CCA380265378F2c.760G>C (p.Ala254Pro)
c.730G>C (p.Ala244Pro)
n.540G>C
c.712G>C (p.Ala238Pro)
n.804G>C
n.795G>C
 gnomAD v4
11g.46726059G>TCA380265380F2c.760G>T (p.Ala254Ser)
c.730G>T (p.Ala244Ser)
n.540G>T
c.712G>T (p.Ala238Ser)
n.804G>T
n.795G>T
11g.46726060C>ACA380265381F2c.761C>A (p.Ala254Asp)
c.731C>A (p.Ala244Asp)
n.541C>A
c.713C>A (p.Ala238Asp)
n.805C>A
n.796C>A
11g.46726060C>GCA380265385F2c.761C>G (p.Ala254Gly)
c.731C>G (p.Ala244Gly)
n.541C>G
c.713C>G (p.Ala238Gly)
n.805C>G
n.796C>G
11g.46726060C>TCA380265386F2c.761C>T (p.Ala254Val)
c.731C>T (p.Ala244Val)
n.541C>T
c.713C>T (p.Ala238Val)
n.805C>T
n.796C>T
11g.46726061T>ACA474043760F2c.762T>A (p.Ala254=)
c.732T>A (p.Ala244=)
n.542T>A
c.714T>A (p.Ala238=)
n.806T>A
n.797T>A
11g.46726061T>CCA474043761F2c.762T>C (p.Ala254=)
c.732T>C (p.Ala244=)
n.542T>C
c.714T>C (p.Ala238=)
n.806T>C
n.797T>C
 ClinVar dbSNP gnomAD v4
11g.46726061T>GCA474043762F2c.762T>G (p.Ala254=)
c.732T>G (p.Ala244=)
n.542T>G
c.714T>G (p.Ala238=)
n.806T>G
n.797T>G
11g.46726062G>ACA5967047F2c.763G>A (p.Val255Met)
c.733G>A (p.Val245Met)
n.543G>A
c.715G>A (p.Val239Met)
n.807G>A
n.798G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.46726062G>CCA221652069F2c.763G>C (p.Val255Leu)
c.733G>C (p.Val245Leu)
n.543G>C
c.715G>C (p.Val239Leu)
n.807G>C
n.798G>C
 dbSNP gnomAD v2 gnomAD v4
11g.46726062G=CA1969072205F2c.763G= (p.Val255=)
c.733G= (p.Val245=)
n.543G=
c.715G= (p.Val239=)
n.807G=
n.798G=
11g.46726062G>TCA380265387F2c.763G>T (p.Val255Leu)
c.733G>T (p.Val245Leu)
n.543G>T
c.715G>T (p.Val239Leu)
n.807G>T
n.798G>T
11g.46726063T>ACA380265396F2c.764T>A (p.Val255Glu)
c.734T>A (p.Val245Glu)
n.544T>A
c.716T>A (p.Val239Glu)
n.808T>A
n.799T>A
11g.46726063T>CCA380265400F2c.764T>C (p.Val255Ala)
c.734T>C (p.Val245Ala)
n.544T>C
c.716T>C (p.Val239Ala)
n.808T>C
n.799T>C
11g.46726063T>GCA380265403F2c.764T>G (p.Val255Gly)
c.734T>G (p.Val245Gly)
n.544T>G
c.716T>G (p.Val239Gly)
n.808T>G
n.799T>G
11g.46726064G>ACA474043763F2c.765G>A (p.Val255=)
c.735G>A (p.Val245=)
n.545G>A
c.717G>A (p.Val239=)
n.809G>A
n.800G>A
11g.46726064G>CCA474043764F2c.765G>C (p.Val255=)
c.735G>C (p.Val245=)
n.545G>C
c.717G>C (p.Val239=)
n.809G>C
n.800G>C
11g.46726064G>TCA474043765F2c.765G>T (p.Val255=)
c.735G>T (p.Val245=)
n.545G>T
c.717G>T (p.Val239=)
n.809G>T
n.800G>T
11g.46726065C>ACA380265408F2c.766C>A (p.Gln256Lys)
c.736C>A (p.Gln246Lys)
c.718C>A (p.Gln240Lys)
n.810C>A
n.801C>A
11g.46726065C>GCA380265411F2c.766C>G (p.Gln256Glu)
c.736C>G (p.Gln246Glu)
c.718C>G (p.Gln240Glu)
n.810C>G
n.801C>G
11g.46726065C>TCA380265414F2c.766C>T (p.Gln256Ter)
c.736C>T (p.Gln246Ter)
c.718C>T (p.Gln240Ter)
n.810C>T
n.801C>T
11g.46726066A>CCA380265415F2c.767A>C (p.Gln256Pro)
c.737A>C (p.Gln246Pro)
c.719A>C (p.Gln240Pro)
n.811A>C
n.802A>C
11g.46726066A>GCA380265417F2c.767A>G (p.Gln256Arg)
c.737A>G (p.Gln246Arg)
c.719A>G (p.Gln240Arg)
n.811A>G
n.802A>G
11g.46726066A>TCA380265418F2c.767A>T (p.Gln256Leu)
c.737A>T (p.Gln246Leu)
c.719A>T (p.Gln240Leu)
n.811A>T
n.802A>T
11g.46726067G>ACA474043766F2c.768G>A (p.Gln256=)
c.738G>A (p.Gln246=)
c.720G>A (p.Gln240=)
n.812G>A
n.803G>A
 gnomAD v4
11g.46726067G>CCA380265421F2c.768G>C (p.Gln256His)
c.738G>C (p.Gln246His)
c.720G>C (p.Gln240His)
n.812G>C
n.803G>C
 gnomAD v4
11g.46726067G>TCA380265424F2c.768G>T (p.Gln256His)
c.738G>T (p.Gln246His)
c.720G>T (p.Gln240His)
n.812G>T
n.803G>T
11g.46726068C>ACA380265427F2c.769C>A (p.Leu257Met)
c.739C>A (p.Leu247Met)
c.721C>A (p.Leu241Met)
n.813C>A
n.804C>A
11g.46726068C>GCA380265430F2c.769C>G (p.Leu257Val)
c.739C>G (p.Leu247Val)
c.721C>G (p.Leu241Val)
n.813C>G
n.804C>G
 gnomAD v4
11g.46726068C>TCA474043767F2c.769C>T (p.Leu257=)
c.739C>T (p.Leu247=)
c.721C>T (p.Leu241=)
n.813C>T
n.804C>T
11g.46726069T>ACA380265439F2c.770T>A (p.Leu257Gln)
c.740T>A (p.Leu247Gln)
c.722T>A (p.Leu241Gln)
n.814T>A
n.805T>A
 dbSNP
11g.46726069T>CCA380265437F2c.770T>C (p.Leu257Pro)
c.740T>C (p.Leu247Pro)
c.722T>C (p.Leu241Pro)
n.814T>C
n.805T>C
 gnomAD v4
11g.46726069T>GCA380265433F2c.770T>G (p.Leu257Arg)
c.740T>G (p.Leu247Arg)
c.722T>G (p.Leu241Arg)
n.814T>G
n.805T>G
11g.46726069T=CA1969072207F2c.770T= (p.Leu257=)
c.740T= (p.Leu247=)
c.722T= (p.Leu241=)
n.814T=
n.805T=
11g.46726070G>ACA474043768F2c.771G>A (p.Leu257=)
c.741G>A (p.Leu247=)
c.723G>A (p.Leu241=)
n.815G>A
n.806G>A
11g.46726070G>CCA474043769F2c.771G>C (p.Leu257=)
c.741G>C (p.Leu247=)
c.723G>C (p.Leu241=)
n.815G>C
n.806G>C
11g.46726070G>TCA474043770F2c.771G>T (p.Leu257=)
c.741G>T (p.Leu247=)
c.723G>T (p.Leu241=)
n.815G>T
n.806G>T
11g.46726071G>ACA5967048F2c.772G>A (p.Val258Met)
c.742G>A (p.Val248Met)
c.724G>A (p.Val242Met)
n.816G>A
n.807G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.46726071G>CCA380265443F2c.772G>C (p.Val258Leu)
c.742G>C (p.Val248Leu)
c.724G>C (p.Val242Leu)
n.816G>C
n.807G>C
 dbSNP gnomAD v2 gnomAD v4
11g.46726071G=CA1969072209F2c.772G= (p.Val258=)
c.742G= (p.Val248=)
c.724G= (p.Val242=)
n.816G=
n.807G=
11g.46726071G>TCA380265445F2c.772G>T (p.Val258Leu)
c.742G>T (p.Val248Leu)
c.724G>T (p.Val242Leu)
n.816G>T
n.807G>T
11g.46726072T>ACA380265447F2c.773T>A (p.Val258Glu)
c.743T>A (p.Val248Glu)
c.725T>A (p.Val242Glu)
n.817T>A
n.808T>A
11g.46726072T>CCA380265448F2c.773T>C (p.Val258Ala)
c.743T>C (p.Val248Ala)
c.725T>C (p.Val242Ala)
n.817T>C
n.808T>C
 gnomAD v4
11g.46726072T>GCA380265451F2c.773T>G (p.Val258Gly)
c.743T>G (p.Val248Gly)
c.725T>G (p.Val242Gly)
n.817T>G
n.808T>G
11g.46726073G>ACA474043771F2c.774G>A (p.Val258=)
c.744G>A (p.Val248=)
c.726G>A (p.Val242=)
n.818G>A
n.809G>A
11g.46726073G>CCA474043772F2c.774G>C (p.Val258=)
c.744G>C (p.Val248=)
c.726G>C (p.Val242=)
n.818G>C
n.809G>C
11g.46726073G>TCA474043773F2c.774G>T (p.Val258=)
c.744G>T (p.Val248=)
c.726G>T (p.Val242=)
n.818G>T
n.809G>T
11g.46726074G>ACA380265455F2c.775G>A (p.Glu259Lys)
c.745G>A (p.Glu249Lys)
c.727G>A (p.Glu243Lys)
n.819G>A
n.810G>A
11g.46726074G>CCA380265456F2c.775G>C (p.Glu259Gln)
c.745G>C (p.Glu249Gln)
c.727G>C (p.Glu243Gln)
n.819G>C
n.810G>C
11g.46726074G>TCA380265457F2c.775G>T (p.Glu259Ter)
c.745G>T (p.Glu249Ter)
c.727G>T (p.Glu243Ter)
n.819G>T
n.810G>T
11g.46726075A=CA1969072211F2c.776A= (p.Glu259=)
c.746A= (p.Glu249=)
c.728A= (p.Glu243=)
n.820A=
n.811A=
11g.46726075A>CCA380265458F2c.776A>C (p.Glu259Ala)
c.746A>C (p.Glu249Ala)
c.728A>C (p.Glu243Ala)
n.820A>C
n.811A>C
11g.46726075A>GCA380265459F2c.776A>G (p.Glu259Gly)
c.746A>G (p.Glu249Gly)
c.728A>G (p.Glu243Gly)
n.820A>G
n.811A>G
 dbSNP
11g.46726075A>TCA380265461F2c.776A>T (p.Glu259Val)
c.746A>T (p.Glu249Val)
c.728A>T (p.Glu243Val)
n.820A>T
n.811A>T
11g.46726076G>ACA474043774F2c.777G>A (p.Glu259=)
c.747G>A (p.Glu249=)
c.729G>A (p.Glu243=)
n.821G>A
n.812G>A
 dbSNP
11g.46726076G>CCA380265464F2c.777G>C (p.Glu259Asp)
c.747G>C (p.Glu249Asp)
c.729G>C (p.Glu243Asp)
n.821G>C
n.812G>C
11g.46726076G=CA1969072213F2c.777G= (p.Glu259=)
c.747G= (p.Glu249=)
c.729G= (p.Glu243=)
n.821G=
n.812G=
11g.46726076G>TCA380265468F2c.777G>T (p.Glu259Asp)
c.747G>T (p.Glu249Asp)
c.729G>T (p.Glu243Asp)
n.821G>T
n.812G>T
 gnomAD v4
11g.46726077A=CA1969072215F2c.778A= (p.Asn260=)
c.748A= (p.Asn250=)
c.730A= (p.Asn244=)
n.822A=
n.813A=
11g.46726077A>CCA380265471F2c.778A>C (p.Asn260His)
c.748A>C (p.Asn250His)
c.730A>C (p.Asn244His)
n.822A>C
n.813A>C
 gnomAD v4
11g.46726077A>GCA5967049F2c.778A>G (p.Asn260Asp)
c.748A>G (p.Asn250Asp)
c.730A>G (p.Asn244Asp)
n.822A>G
n.813A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726077A>TCA380265469F2c.778A>T (p.Asn260Tyr)
c.748A>T (p.Asn250Tyr)
c.730A>T (p.Asn244Tyr)
n.822A>T
n.813A>T
 COSMIC
11g.46726078A>CCA380265476F2c.779A>C (p.Asn260Thr)
c.749A>C (p.Asn250Thr)
c.731A>C (p.Asn244Thr)
n.823A>C
n.814A>C
11g.46726078A>GCA380265479F2c.779A>G (p.Asn260Ser)
c.749A>G (p.Asn250Ser)
c.731A>G (p.Asn244Ser)
n.823A>G
n.814A>G
11g.46726078A>TCA380265481F2c.779A>T (p.Asn260Ile)
c.749A>T (p.Asn250Ile)
c.731A>T (p.Asn244Ile)
n.823A>T
n.814A>T
11g.46726079C>ACA380265484F2c.780C>A (p.Asn260Lys)
c.750C>A (p.Asn250Lys)
c.732C>A (p.Asn244Lys)
n.824C>A
n.815C>A
11g.46726079C>GCA380265487F2c.780C>G (p.Asn260Lys)
c.750C>G (p.Asn250Lys)
c.732C>G (p.Asn244Lys)
n.824C>G
n.815C>G
11g.46726079C>TCA474043775F2c.780C>T (p.Asn260=)
c.750C>T (p.Asn250=)
c.732C>T (p.Asn244=)
n.824C>T
n.815C>T
11g.46726080T>ACA380265488F2c.781T>A (p.Phe261Ile)
c.751T>A (p.Phe251Ile)
c.733T>A (p.Phe245Ile)
n.825T>A
n.816T>A
11g.46726080T>CCA380265489F2c.781T>C (p.Phe261Leu)
c.751T>C (p.Phe251Leu)
c.733T>C (p.Phe245Leu)
n.825T>C
n.816T>C
11g.46726080T>GCA380265492F2c.781T>G (p.Phe261Val)
c.751T>G (p.Phe251Val)
c.733T>G (p.Phe245Val)
n.825T>G
n.816T>G
11g.46726081T>ACA380265495F2c.782T>A (p.Phe261Tyr)
c.752T>A (p.Phe251Tyr)
c.734T>A (p.Phe245Tyr)
n.826T>A
n.817T>A
11g.46726081T>CCA380265497F2c.782T>C (p.Phe261Ser)
c.752T>C (p.Phe251Ser)
c.734T>C (p.Phe245Ser)
n.826T>C
n.817T>C
11g.46726081T>GCA380265506F2c.782T>G (p.Phe261Cys)
c.752T>G (p.Phe251Cys)
c.734T>G (p.Phe245Cys)
n.826T>G
n.817T>G
11g.46726082C>ACA380265509F2c.783C>A (p.Phe261Leu)
c.753C>A (p.Phe251Leu)
c.735C>A (p.Phe245Leu)
n.827C>A
n.818C>A
11g.46726082C>GCA380265511F2c.783C>G (p.Phe261Leu)
c.753C>G (p.Phe251Leu)
c.735C>G (p.Phe245Leu)
n.827C>G
n.818C>G
 gnomAD v4
11g.46726082C>TCA474043776F2c.783C>T (p.Phe261=)
c.753C>T (p.Phe251=)
c.735C>T (p.Phe245=)
n.827C>T
n.818C>T
 gnomAD v4
11g.46726083T>ACA380265518F2c.784T>A (p.Cys262Ser)
c.754T>A (p.Cys252Ser)
c.736T>A (p.Cys246Ser)
n.828T>A
n.819T>A
11g.46726083T>CCA380265514F2c.784T>C (p.Cys262Arg)
c.754T>C (p.Cys252Arg)
c.736T>C (p.Cys246Arg)
n.828T>C
n.819T>C
11g.46726083T>GCA380265517F2c.784T>G (p.Cys262Gly)
c.754T>G (p.Cys252Gly)
c.736T>G (p.Cys246Gly)
n.828T>G
n.819T>G
11g.46726084G>ACA380265522F2c.785G>A (p.Cys262Tyr)
c.755G>A (p.Cys252Tyr)
c.737G>A (p.Cys246Tyr)
n.829G>A
n.820G>A
 COSMIC
11g.46726084G>CCA380265526F2c.785G>C (p.Cys262Ser)
c.755G>C (p.Cys252Ser)
c.737G>C (p.Cys246Ser)
n.829G>C
n.820G>C
11g.46726084G>TCA380265528F2c.785G>T (p.Cys262Phe)
c.755G>T (p.Cys252Phe)
c.737G>T (p.Cys246Phe)
n.829G>T
n.820G>T
11g.46726085C>ACA380265530F2c.786C>A (p.Cys262Ter)
c.756C>A (p.Cys252Ter)
c.738C>A (p.Cys246Ter)
n.830C>A
n.821C>A
11g.46726085C=CA1969072217F2c.786C= (p.Cys262=)
c.756C= (p.Cys252=)
c.738C= (p.Cys246=)
n.830C=
n.821C=
11g.46726085C>GCA380265532F2c.786C>G (p.Cys262Trp)
c.756C>G (p.Cys252Trp)
c.738C>G (p.Cys246Trp)
n.830C>G
n.821C>G
11g.46726085C>TCA474043777F2c.786C>T (p.Cys262=)
c.756C>T (p.Cys252=)
c.738C>T (p.Cys246=)
n.830C>T
n.821C>T
 dbSNP gnomAD v2 gnomAD v4
11g.46726086C>ACA380265533F2c.787C>A (p.Arg263Ser)
c.757C>A (p.Arg253Ser)
c.739C>A (p.Arg247Ser)
n.831C>A
n.822C>A
11g.46726086C=CA1969072219F2c.787C= (p.Arg263=)
c.757C= (p.Arg253=)
c.739C= (p.Arg247=)
n.831C=
n.822C=
11g.46726086C>GCA380265534F2c.787C>G (p.Arg263Gly)
c.757C>G (p.Arg253Gly)
c.739C>G (p.Arg247Gly)
n.831C>G
n.822C>G
11g.46726086C>TCA380265535F2c.787C>T (p.Arg263Cys)
c.757C>T (p.Arg253Cys)
c.739C>T (p.Arg247Cys)
n.831C>T
n.822C>T
 dbSNP gnomAD v3 gnomAD v4
11g.46726087G>ACA380265538F2c.788G>A (p.Arg263His)
c.758G>A (p.Arg253His)
c.740G>A (p.Arg247His)
n.832G>A
n.823G>A
 gnomAD v4 COSMIC
11g.46726087G>CCA380265541F2c.788G>C (p.Arg263Pro)
c.758G>C (p.Arg253Pro)
c.740G>C (p.Arg247Pro)
n.832G>C
n.823G>C
11g.46726087G>TCA380265548F2c.788G>T (p.Arg263Leu)
c.758G>T (p.Arg253Leu)
c.740G>T (p.Arg247Leu)
n.832G>T
n.823G>T
11g.46726088C>ACA474043780F2c.789C>A (p.Arg263=)
c.759C>A (p.Arg253=)
c.741C>A (p.Arg247=)
n.833C>A
n.824C>A
11g.46726088C>GCA474043779F2c.789C>G (p.Arg263=)
c.759C>G (p.Arg253=)
c.741C>G (p.Arg247=)
n.833C>G
n.824C>G
11g.46726088C>TCA474043778F2c.789C>T (p.Arg263=)
c.759C>T (p.Arg253=)
c.741C>T (p.Arg247=)
n.833C>T
n.824C>T
 ClinVar
11g.46726089A>CCA380265550F2c.790A>C (p.Asn264His)
c.760A>C (p.Asn254His)
c.742A>C (p.Asn248His)
n.834A>C
n.825A>C
11g.46726089A>GCA380265555F2c.790A>G (p.Asn264Asp)
c.760A>G (p.Asn254Asp)
c.742A>G (p.Asn248Asp)
n.834A>G
n.825A>G
11g.46726089A>TCA380265552F2c.790A>T (p.Asn264Tyr)
c.760A>T (p.Asn254Tyr)
c.742A>T (p.Asn248Tyr)
n.834A>T
n.825A>T
11g.46726090A=CA1969072221F2c.791A= (p.Asn264=)
c.761A= (p.Asn254=)
c.743A= (p.Asn248=)
n.835A=
n.826A=
11g.46726090A>CCA380265574F2c.791A>C (p.Asn264Thr)
c.761A>C (p.Asn254Thr)
c.743A>C (p.Asn248Thr)
n.835A>C
n.826A>C
11g.46726090A>GCA5967050F2c.791A>G (p.Asn264Ser)
c.761A>G (p.Asn254Ser)
c.743A>G (p.Asn248Ser)
n.835A>G
n.826A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.46726090A>TCA380265577F2c.791A>T (p.Asn264Ile)
c.761A>T (p.Asn254Ile)
c.743A>T (p.Asn248Ile)
n.835A>T
n.826A>T
11g.46726091C>ACA380265579F2c.792C>A (p.Asn264Lys)
c.762C>A (p.Asn254Lys)
c.744C>A (p.Asn248Lys)
n.836C>A
n.827C>A
11g.46726091C>GCA380265581F2c.792C>G (p.Asn264Lys)
c.762C>G (p.Asn254Lys)
c.744C>G (p.Asn248Lys)
n.836C>G
n.827C>G
11g.46726091C>TCA474043781F2c.792C>T (p.Asn264=)
c.762C>T (p.Asn254=)
c.744C>T (p.Asn248=)
n.836C>T
n.827C>T
 ClinVar
11g.46726092C>ACA380265593F2c.793C>A (p.Pro265Thr)
c.763C>A (p.Pro255Thr)
c.745C>A (p.Pro249Thr)
n.837C>A
n.828C>A
11g.46726092C=CA1969072222F2c.793C= (p.Pro265=)
c.763C= (p.Pro255=)
c.745C= (p.Pro249=)
n.837C=
n.828C=
11g.46726092C>GCA380265592F2c.793C>G (p.Pro265Ala)
c.763C>G (p.Pro255Ala)
c.745C>G (p.Pro249Ala)
n.837C>G
n.828C>G
11g.46726092C>TCA221652083F2c.793C>T (p.Pro265Ser)
c.763C>T (p.Pro255Ser)
c.745C>T (p.Pro249Ser)
n.837C>T
n.828C>T
 dbSNP
11g.46726093C>ACA380265594F2c.794C>A (p.Pro265Gln)
c.764C>A (p.Pro255Gln)
c.746C>A (p.Pro249Gln)
n.838C>A
n.829C>A
11g.46726093C>GCA380265595F2c.794C>G (p.Pro265Arg)
c.764C>G (p.Pro255Arg)
c.746C>G (p.Pro249Arg)
n.838C>G
n.829C>G
11g.46726093C>TCA380265596F2c.794C>T (p.Pro265Leu)
c.764C>T (p.Pro255Leu)
c.746C>T (p.Pro249Leu)
n.838C>T
n.829C>T
11g.46726094A>CCA474043782F2c.795A>C (p.Pro265=)
c.765A>C (p.Pro255=)
c.747A>C (p.Pro249=)
n.839A>C
n.830A>C
11g.46726094A>GCA474043784F2c.795A>G (p.Pro265=)
c.765A>G (p.Pro255=)
c.747A>G (p.Pro249=)
n.839A>G
n.830A>G
11g.46726094A>TCA474043783F2c.795A>T (p.Pro265=)
c.765A>T (p.Pro255=)
c.747A>T (p.Pro249=)
n.839A>T
n.830A>T
11g.46726095G>ACA380265600F2c.796G>A (p.Asp266Asn)
c.766G>A (p.Asp256Asn)
c.748G>A (p.Asp250Asn)
n.840G>A
n.831G>A
11g.46726095G>CCA380265602F2c.796G>C (p.Asp266His)
c.766G>C (p.Asp256His)
c.748G>C (p.Asp250His)
n.840G>C
n.831G>C
 COSMIC
11g.46726095G>TCA380265604F2c.796G>T (p.Asp266Tyr)
c.766G>T (p.Asp256Tyr)
c.748G>T (p.Asp250Tyr)
n.840G>T
n.831G>T
11g.46726096A>CCA380265608F2c.797A>C (p.Asp266Ala)
c.767A>C (p.Asp256Ala)
c.749A>C (p.Asp250Ala)
n.841A>C
n.832A>C
11g.46726096A>GCA380265606F2c.797A>G (p.Asp266Gly)
c.767A>G (p.Asp256Gly)
c.749A>G (p.Asp250Gly)
n.841A>G
n.832A>G
11g.46726096A>TCA380265607F2c.797A>T (p.Asp266Val)
c.767A>T (p.Asp256Val)
c.749A>T (p.Asp250Val)
n.841A>T
n.832A>T
11g.46726097C>ACA380265609F2c.798C>A (p.Asp266Glu)
c.768C>A (p.Asp256Glu)
c.750C>A (p.Asp250Glu)
n.842C>A
n.833C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.46726097C=CA1969072225F2c.798C= (p.Asp266=)
c.768C= (p.Asp256=)
c.750C= (p.Asp250=)
n.842C=
n.833C=
11g.46726097C>GCA380265611F2c.798C>G (p.Asp266Glu)
c.768C>G (p.Asp256Glu)
c.750C>G (p.Asp250Glu)
n.842C>G
n.833C>G
 gnomAD v4
11g.46726097C>TCA5967051F2c.798C>T (p.Asp266=)
c.768C>T (p.Asp256=)
c.750C>T (p.Asp250=)
n.842C>T
n.833C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726098G>ACA5967053F2c.799G>A (p.Gly267Arg)
c.769G>A (p.Gly257Arg)
c.751G>A (p.Gly251Arg)
n.843G>A
n.834G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726098G>CCA221652109F2c.799G>C (p.Gly267Arg)
c.769G>C (p.Gly257Arg)
c.751G>C (p.Gly251Arg)
n.843G>C
n.834G>C
 dbSNP
11g.46726098G=CA1969072228F2c.799G= (p.Gly267=)
c.769G= (p.Gly257=)
c.751G= (p.Gly251=)
n.843G=
n.834G=
11g.46726098G>TCA5967052F2c.799G>T (p.Gly267Trp)
c.769G>T (p.Gly257Trp)
c.751G>T (p.Gly251Trp)
n.843G>T
n.834G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.46726098_46726099delinsAACA645571956F2c.799_800delinsAA (p.Gly267Lys)
c.769_770delinsAA (p.Gly257Lys)
c.751_752delinsAA (p.Gly251Lys)
n.843_844delinsAA
n.834_835delinsAA
 COSMIC
11g.46726099G>ACA380265620F2c.800G>A (p.Gly267Glu)
c.770G>A (p.Gly257Glu)
c.752G>A (p.Gly251Glu)
n.844G>A
n.835G>A
 COSMIC
11g.46726099G>CCA380265622F2c.800G>C (p.Gly267Ala)
c.770G>C (p.Gly257Ala)
c.752G>C (p.Gly251Ala)
n.844G>C
n.835G>C
 gnomAD v4
11g.46726099G>TCA380265623F2c.800G>T (p.Gly267Val)
c.770G>T (p.Gly257Val)
c.752G>T (p.Gly251Val)
n.844G>T
n.835G>T
 dbSNP
11g.46726100G>ACA474043785F2c.801G>A (p.Gly267=)
c.771G>A (p.Gly257=)
c.753G>A (p.Gly251=)
n.845G>A
n.836G>A
 gnomAD v4
11g.46726100G>CCA474043786F2c.801G>C (p.Gly267=)
c.771G>C (p.Gly257=)
c.753G>C (p.Gly251=)
n.845G>C
n.836G>C
11g.46726100G=CA1969072230F2c.801G= (p.Gly267=)
c.771G= (p.Gly257=)
c.753G= (p.Gly251=)
n.845G=
n.836G=
11g.46726100G>TCA5967054F2c.801G>T (p.Gly267=)
c.771G>T (p.Gly257=)
c.753G>T (p.Gly251=)
n.845G>T
n.836G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.46726101G>ACA380265628F2c.802G>A (p.Asp268Asn)
c.772G>A (p.Asp258Asn)
c.754G>A (p.Asp252Asn)
n.846G>A
n.837G>A
 COSMIC
11g.46726101G>CCA380265630F2c.802G>C (p.Asp268His)
c.772G>C (p.Asp258His)
c.754G>C (p.Asp252His)
n.846G>C
n.837G>C
11g.46726101G>TCA380265634F2c.802G>T (p.Asp268Tyr)
c.772G>T (p.Asp258Tyr)
c.754G>T (p.Asp252Tyr)
n.846G>T
n.837G>T
11g.46726102A>CCA380265652F2c.803A>C (p.Asp268Ala)
c.773A>C (p.Asp258Ala)
c.755A>C (p.Asp252Ala)
n.847A>C
n.838A>C
11g.46726102A>GCA380265645F2c.803A>G (p.Asp268Gly)
c.773A>G (p.Asp258Gly)
c.755A>G (p.Asp252Gly)
n.847A>G
n.838A>G
11g.46726102A>TCA380265647F2c.803A>T (p.Asp268Val)
c.773A>T (p.Asp258Val)
c.755A>T (p.Asp252Val)
n.847A>T
n.838A>T
11g.46726102_46726103insCACACTGCCA2518763544F2c.803_804insCACACTGC (p.Glu269ThrfsTer?)
c.773_774insCACACTGC (p.Glu259ThrfsTer?)
c.755_756insCACACTGC (p.Glu253ThrfsTer?)
n.847_848insCACACTGC
n.838_839insCACACTGC
11g.46726103T>ACA380265655F2c.804T>A (p.Asp268Glu)
c.774T>A (p.Asp258Glu)
c.756T>A (p.Asp252Glu)
n.848T>A
n.839T>A
11g.46726103T>CCA474043787F2c.804T>C (p.Asp268=)
c.774T>C (p.Asp258=)
c.756T>C (p.Asp252=)
n.848T>C
n.839T>C
11g.46726103T>GCA380265658F2c.804T>G (p.Asp268Glu)
c.774T>G (p.Asp258Glu)
c.756T>G (p.Asp252Glu)
n.848T>G
n.839T>G
11g.46726103_46726106delinsTGAGCA1969072232F2c.804_807delinsTGAG (p.Asp268=)
c.774_777delinsTGAG (p.Asp258=)
c.756_759delinsTGAG (p.Asp252=)
n.848_851delinsTGAG
n.839_842delinsTGAG
11g.46726104G>ACA380265664F2c.805G>A (p.Glu269Lys)
c.775G>A (p.Glu259Lys)
c.757G>A (p.Glu253Lys)
n.849G>A
n.840G>A
 gnomAD v4
11g.46726104G>CCA380265668F2c.805G>C (p.Glu269Gln)
c.775G>C (p.Glu259Gln)
c.757G>C (p.Glu253Gln)
n.849G>C
n.840G>C
11g.46726104G>TCA380265673F2c.805G>T (p.Glu269Ter)
c.775G>T (p.Glu259Ter)
c.757G>T (p.Glu253Ter)
n.849G>T
n.840G>T
11g.46726108_46726110delCA1969072235F2c.809_811del (p.Glu270del)
c.779_781del (p.Glu260del)
c.761_763del (p.Glu254del)
n.853_855del
n.844_846del
 dbSNP
11g.46726105A>CCA380265677F2c.806A>C (p.Glu269Ala)
c.776A>C (p.Glu259Ala)
c.758A>C (p.Glu253Ala)
n.850A>C
n.841A>C
11g.46726105A>GCA380265690F2c.806A>G (p.Glu269Gly)
c.776A>G (p.Glu259Gly)
c.758A>G (p.Glu253Gly)
n.850A>G
n.841A>G
11g.46726105A>TCA380265697F2c.806A>T (p.Glu269Val)
c.776A>T (p.Glu259Val)
c.758A>T (p.Glu253Val)
n.850A>T
n.841A>T
11g.46726106G>ACA474043788F2c.807G>A (p.Glu269=)
c.777G>A (p.Glu259=)
c.759G>A (p.Glu253=)
n.851G>A
n.842G>A
11g.46726106G>CCA380265700F2c.807G>C (p.Glu269Asp)
c.777G>C (p.Glu259Asp)
c.759G>C (p.Glu253Asp)
n.851G>C
n.842G>C
11g.46726106G>TCA380265701F2c.807G>T (p.Glu269Asp)
c.777G>T (p.Glu259Asp)
c.759G>T (p.Glu253Asp)
n.851G>T
n.842G>T
11g.46726107G>ACA380265704F2c.808G>A (p.Glu270Lys)
c.778G>A (p.Glu260Lys)
c.760G>A (p.Glu254Lys)
n.852G>A
n.843G>A
 COSMIC
11g.46726107G>CCA380265709F2c.808G>C (p.Glu270Gln)
c.778G>C (p.Glu260Gln)
c.760G>C (p.Glu254Gln)
n.852G>C
n.843G>C
11g.46726107G>TCA380265715F2c.808G>T (p.Glu270Ter)
c.778G>T (p.Glu260Ter)
c.760G>T (p.Glu254Ter)
n.852G>T
n.843G>T
11g.46726108A>CCA380265744F2c.809A>C (p.Glu270Ala)
c.779A>C (p.Glu260Ala)
c.761A>C (p.Glu254Ala)
n.853A>C
n.844A>C
11g.46726108A>GCA380265730F2c.809A>G (p.Glu270Gly)
c.779A>G (p.Glu260Gly)
c.761A>G (p.Glu254Gly)
n.853A>G
n.844A>G
11g.46726108A>TCA380265740F2c.809A>T (p.Glu270Val)
c.779A>T (p.Glu260Val)
c.761A>T (p.Glu254Val)
n.853A>T
n.844A>T
11g.46726109G>ACA474043789F2c.810G>A (p.Glu270=)
c.780G>A (p.Glu260=)
c.762G>A (p.Glu254=)
n.854G>A
n.845G>A
11g.46726109G>CCA380265749F2c.810G>C (p.Glu270Asp)
c.780G>C (p.Glu260Asp)
c.762G>C (p.Glu254Asp)
n.854G>C
n.845G>C
11g.46726109G>TCA380265751F2c.810G>T (p.Glu270Asp)
c.780G>T (p.Glu260Asp)
c.762G>T (p.Glu254Asp)
n.854G>T
n.845G>T
11g.46726110G>ACA380265755F2c.811G>A (p.Gly271Ser)
c.781G>A (p.Gly261Ser)
c.763G>A (p.Gly255Ser)
n.855G>A
n.846G>A
11g.46726110G>CCA380265758F2c.811G>C (p.Gly271Arg)
c.781G>C (p.Gly261Arg)
c.763G>C (p.Gly255Arg)
n.855G>C
n.846G>C
11g.46726110G>TCA380265761F2c.811G>T (p.Gly271Cys)
c.781G>T (p.Gly261Cys)
c.763G>T (p.Gly255Cys)
n.855G>T
n.846G>T
11g.46726111G>ACA5967055F2c.812G>A (p.Gly271Asp)
c.782G>A (p.Gly261Asp)
c.764G>A (p.Gly255Asp)
n.856G>A
n.847G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726111G>CCA380265767F2c.812G>C (p.Gly271Ala)
c.782G>C (p.Gly261Ala)
c.764G>C (p.Gly255Ala)
n.856G>C
n.847G>C
11g.46726111G=CA1969072239F2c.812G= (p.Gly271=)
c.782G= (p.Gly261=)
c.764G= (p.Gly255=)
n.856G=
n.847G=
11g.46726111G>TCA380265770F2c.812G>T (p.Gly271Val)
c.782G>T (p.Gly261Val)
c.764G>T (p.Gly255Val)
n.856G>T
n.847G>T
11g.46726112C>ACA474043790F2c.813C>A (p.Gly271=)
c.783C>A (p.Gly261=)
c.765C>A (p.Gly255=)
n.857C>A
n.848C>A
 gnomAD v4
11g.46726112C=CA1969072242F2c.813C= (p.Gly271=)
c.783C= (p.Gly261=)
c.765C= (p.Gly255=)
n.857C=
n.848C=
11g.46726112C>GCA474043791F2c.813C>G (p.Gly271=)
c.783C>G (p.Gly261=)
c.765C>G (p.Gly255=)
n.857C>G
n.848C>G
 ClinVar
11g.46726112C>TCA5967056F2c.813C>T (p.Gly271=)
c.783C>T (p.Gly261=)
c.765C>T (p.Gly255=)
n.857C>T
n.848C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726113G>ACA5967057F2c.814G>A (p.Val272Met)
c.784G>A (p.Val262Met)
c.766G>A (p.Val256Met)
n.858G>A
n.849G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726113G>CCA380265778F2c.814G>C (p.Val272Leu)
c.784G>C (p.Val262Leu)
c.766G>C (p.Val256Leu)
n.858G>C
n.849G>C
11g.46726113G=CA1969072245F2c.814G= (p.Val272=)
c.784G= (p.Val262=)
c.766G= (p.Val256=)
n.858G=
n.849G=
11g.46726113G>TCA380265780F2c.814G>T (p.Val272Leu)
c.784G>T (p.Val262Leu)
c.766G>T (p.Val256Leu)
n.858G>T
n.849G>T
11g.46726114T>ACA380265786F2c.815T>A (p.Val272Glu)
c.785T>A (p.Val262Glu)
c.767T>A (p.Val256Glu)
n.859T>A
n.850T>A
11g.46726114T>CCA221652150F2c.815T>C (p.Val272Ala)
c.785T>C (p.Val262Ala)
c.767T>C (p.Val256Ala)
n.859T>C
n.850T>C
 dbSNP
11g.46726114T>GCA380265790F2c.815T>G (p.Val272Gly)
c.785T>G (p.Val262Gly)
c.767T>G (p.Val256Gly)
n.859T>G
n.850T>G
11g.46726114T=CA1969072250F2c.815T= (p.Val272=)
c.785T= (p.Val262=)
c.767T= (p.Val256=)
n.859T=
n.850T=
11g.46726115G>ACA474043793F2c.816G>A (p.Val272=)
c.786G>A (p.Val262=)
c.768G>A (p.Val256=)
n.860G>A
n.851G>A
 dbSNP
11g.46726115G>CCA474043794F2c.816G>C (p.Val272=)
c.786G>C (p.Val262=)
c.768G>C (p.Val256=)
n.860G>C
n.851G>C
11g.46726115G=CA1969072252F2c.816G= (p.Val272=)
c.786G= (p.Val262=)
c.768G= (p.Val256=)
n.860G=
n.851G=
11g.46726115G>TCA474043792F2c.816G>T (p.Val272=)
c.786G>T (p.Val262=)
c.768G>T (p.Val256=)
n.860G>T
n.851G>T
 gnomAD v4
11g.46726116T>ACA380265796F2c.817T>A (p.Trp273Arg)
c.787T>A (p.Trp263Arg)
c.769T>A (p.Trp257Arg)
n.861T>A
n.852T>A
11g.46726116T>CCA380265802F2c.817T>C (p.Trp273Arg)
c.787T>C (p.Trp263Arg)
c.769T>C (p.Trp257Arg)
n.861T>C
n.852T>C
11g.46726116T>GCA380265798F2c.817T>G (p.Trp273Gly)
c.787T>G (p.Trp263Gly)
c.769T>G (p.Trp257Gly)
n.861T>G
n.852T>G
11g.46726117G>ACA380265804F2c.818G>A (p.Trp273Ter)
c.788G>A (p.Trp263Ter)
c.770G>A (p.Trp257Ter)
n.862G>A
n.853G>A
11g.46726117G>CCA380265807F2c.818G>C (p.Trp273Ser)
c.788G>C (p.Trp263Ser)
c.770G>C (p.Trp257Ser)
n.862G>C
n.853G>C
11g.46726117G>TCA380265810F2c.818G>T (p.Trp273Leu)
c.788G>T (p.Trp263Leu)
c.770G>T (p.Trp257Leu)
n.862G>T
n.853G>T
11g.46726118G>ACA380265813F2c.819G>A (p.Trp273Ter)
c.789G>A (p.Trp263Ter)
c.771G>A (p.Trp257Ter)
n.863G>A
n.854G>A
11g.46726118G>CCA380265817F2c.819G>C (p.Trp273Cys)
c.789G>C (p.Trp263Cys)
c.771G>C (p.Trp257Cys)
n.863G>C
n.854G>C
11g.46726118G>TCA380265827F2c.819G>T (p.Trp273Cys)
c.789G>T (p.Trp263Cys)
c.771G>T (p.Trp257Cys)
n.863G>T
n.854G>T
11g.46726119T>ACA380265831F2c.820T>A (p.Cys274Ser)
c.790T>A (p.Cys264Ser)
c.772T>A (p.Cys258Ser)
n.864T>A
n.855T>A
11g.46726119T>CCA380265839F2c.820T>C (p.Cys274Arg)
c.790T>C (p.Cys264Arg)
c.772T>C (p.Cys258Arg)
n.864T>C
n.855T>C
11g.46726119T>GCA380265843F2c.820T>G (p.Cys274Gly)
c.790T>G (p.Cys264Gly)
c.772T>G (p.Cys258Gly)
n.864T>G
n.855T>G
11g.46726120G>ACA380265847F2c.821G>A (p.Cys274Tyr)
c.791G>A (p.Cys264Tyr)
c.773G>A (p.Cys258Tyr)
n.865G>A
n.856G>A
 gnomAD v4
11g.46726120G>CCA380265848F2c.821G>C (p.Cys274Ser)
c.791G>C (p.Cys264Ser)
c.773G>C (p.Cys258Ser)
n.865G>C
n.856G>C
11g.46726120G>TCA380265851F2c.821G>T (p.Cys274Phe)
c.791G>T (p.Cys264Phe)
c.773G>T (p.Cys258Phe)
n.865G>T
n.856G>T
11g.46726121C>ACA380265858F2c.822C>A (p.Cys274Ter)
c.792C>A (p.Cys264Ter)
c.774C>A (p.Cys258Ter)
n.866C>A
n.857C>A
11g.46726121C>GCA380265856F2c.822C>G (p.Cys274Trp)
c.792C>G (p.Cys264Trp)
c.774C>G (p.Cys258Trp)
n.866C>G
n.857C>G
11g.46726121C>TCA474043795F2c.822C>T (p.Cys274=)
c.792C>T (p.Cys264=)
c.774C>T (p.Cys258=)
n.866C>T
n.857C>T
 COSMIC
11g.46726122T>ACA380265860F2c.823T>A (p.Tyr275Asn)
c.793T>A (p.Tyr265Asn)
c.775T>A (p.Tyr259Asn)
n.867T>A
n.858T>A
11g.46726122T>CCA380265861F2c.823T>C (p.Tyr275His)
c.793T>C (p.Tyr265His)
c.775T>C (p.Tyr259His)
n.867T>C
n.858T>C
11g.46726122T>GCA380265863F2c.823T>G (p.Tyr275Asp)
c.793T>G (p.Tyr265Asp)
c.775T>G (p.Tyr259Asp)
n.867T>G
n.858T>G
11g.46726123A>CCA380265867F2c.824A>C (p.Tyr275Ser)
c.794A>C (p.Tyr265Ser)
c.776A>C (p.Tyr259Ser)
n.868A>C
n.859A>C
11g.46726123A>GCA380265877F2c.824A>G (p.Tyr275Cys)
c.794A>G (p.Tyr265Cys)
c.776A>G (p.Tyr259Cys)
n.868A>G
n.859A>G
11g.46726123A>TCA380265881F2c.824A>T (p.Tyr275Phe)
c.794A>T (p.Tyr265Phe)
c.776A>T (p.Tyr259Phe)
n.868A>T
n.859A>T
11g.46726124T>ACA380265886F2c.825T>A (p.Tyr275Ter)
c.795T>A (p.Tyr265Ter)
c.777T>A (p.Tyr259Ter)
n.869T>A
n.860T>A
11g.46726124T>CCA474043248F2c.825T>C (p.Tyr275=)
c.795T>C (p.Tyr265=)
c.777T>C (p.Tyr259=)
n.869T>C
n.860T>C
 dbSNP gnomAD v2 gnomAD v4
11g.46726124T>GCA380265889F2c.825T>G (p.Tyr275Ter)
c.795T>G (p.Tyr265Ter)
c.777T>G (p.Tyr259Ter)
n.869T>G
n.860T>G
11g.46726124T=CA1969072253F2c.825T= (p.Tyr275=)
c.795T= (p.Tyr265=)
c.777T= (p.Tyr259=)
n.869T=
n.860T=
11g.46726125G>ACA380265892F2c.826G>A (p.Val276Met)
c.796G>A (p.Val266Met)
c.778G>A (p.Val260Met)
n.870G>A
n.861G>A
 gnomAD v4
11g.46726125G>CCA380265896F2c.826G>C (p.Val276Leu)
c.796G>C (p.Val266Leu)
c.778G>C (p.Val260Leu)
n.870G>C
n.861G>C
11g.46726125G>TCA380265897F2c.826G>T (p.Val276Leu)
c.796G>T (p.Val266Leu)
c.778G>T (p.Val260Leu)
n.870G>T
n.861G>T
11g.46726126T>ACA380265915F2c.827T>A (p.Val276Glu)
c.797T>A (p.Val266Glu)
c.779T>A (p.Val260Glu)
n.871T>A
n.862T>A
11g.46726126T>CCA380265912F2c.827T>C (p.Val276Ala)
c.797T>C (p.Val266Ala)
c.779T>C (p.Val260Ala)
n.871T>C
n.862T>C
11g.46726126T>GCA380265900F2c.827T>G (p.Val276Gly)
c.797T>G (p.Val266Gly)
c.779T>G (p.Val260Gly)
n.871T>G
n.862T>G
11g.46726127G>ACA474043258F2c.828G>A (p.Val276=)
c.798G>A (p.Val266=)
c.780G>A (p.Val260=)
n.872G>A
n.863G>A
11g.46726127G>CCA474043259F2c.828G>C (p.Val276=)
c.798G>C (p.Val266=)
c.780G>C (p.Val260=)
n.872G>C
n.863G>C
11g.46726127G=CA1969072254F2c.828G= (p.Val276=)
c.798G= (p.Val266=)
c.780G= (p.Val260=)
n.872G=
n.863G=
11g.46726127G>TCA474043265F2c.828G>T (p.Val276=)
c.798G>T (p.Val266=)
c.780G>T (p.Val260=)
n.872G>T
n.863G>T
 dbSNP
11g.46726128G>ACA380265918F2c.829G>A (p.Ala277Thr)
c.799G>A (p.Ala267Thr)
c.781G>A (p.Ala261Thr)
n.873G>A
n.864G>A
 gnomAD v4
11g.46726128G>CCA380265925F2c.829G>C (p.Ala277Pro)
c.799G>C (p.Ala267Pro)
c.781G>C (p.Ala261Pro)
n.873G>C
n.864G>C
 dbSNP COSMIC
11g.46726128G=CA1969072255F2c.829G= (p.Ala277=)
c.799G= (p.Ala267=)
c.781G= (p.Ala261=)
n.873G=
n.864G=
11g.46726128G>TCA380265928F2c.829G>T (p.Ala277Ser)
c.799G>T (p.Ala267Ser)
c.781G>T (p.Ala261Ser)
n.873G>T
n.864G>T
 dbSNP COSMIC
11g.46726129C>ACA380265931F2c.830C>A (p.Ala277Asp)
c.800C>A (p.Ala267Asp)
c.782C>A (p.Ala261Asp)
n.874C>A
n.865C>A
11g.46726129C>GCA380265934F2c.830C>G (p.Ala277Gly)
c.800C>G (p.Ala267Gly)
c.782C>G (p.Ala261Gly)
n.874C>G
n.865C>G
11g.46726129C>TCA380265943F2c.830C>T (p.Ala277Val)
c.800C>T (p.Ala267Val)
c.782C>T (p.Ala261Val)
n.874C>T
n.865C>T
 gnomAD v4
11g.46726130C>ACA474043275F2c.831C>A (p.Ala277=)
c.801C>A (p.Ala267=)
c.783C>A (p.Ala261=)
n.875C>A
n.866C>A
11g.46726130C=CA1969072256F2c.831C= (p.Ala277=)
c.801C= (p.Ala267=)
c.783C= (p.Ala261=)
n.875C=
n.866C=
11g.46726130C>GCA474043278F2c.831C>G (p.Ala277=)
c.801C>G (p.Ala267=)
c.783C>G (p.Ala261=)
n.875C>G
n.866C>G
 dbSNP
11g.46726130C>TCA5967058F2c.831C>T (p.Ala277=)
c.801C>T (p.Ala267=)
c.783C>T (p.Ala261=)
n.875C>T
n.866C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.46726131G>ACA5967059F2c.832G>A (p.Gly278Arg)
c.802G>A (p.Gly268Arg)
c.784G>A (p.Gly262Arg)
n.876G>A
n.867G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.46726131G>CCA380265952F2c.832G>C (p.Gly278Arg)
c.802G>C (p.Gly268Arg)
c.784G>C (p.Gly262Arg)
n.876G>C
n.867G>C
 COSMIC
11g.46726131G=CA1969072261F2c.832G= (p.Gly278=)
c.802G= (p.Gly268=)
c.784G= (p.Gly262=)
n.876G=
n.867G=
11g.46726131G>TCA380265955F2c.832G>T (p.Gly278Trp)
c.802G>T (p.Gly268Trp)
c.784G>T (p.Gly262Trp)
n.876G>T
n.867G>T
11g.46726132G>ACA380265959F2c.833G>A (p.Gly278Glu)
c.803G>A (p.Gly268Glu)
c.785G>A (p.Gly262Glu)
n.877G>A
n.868G>A
 dbSNP gnomAD v4 COSMIC
11g.46726132G>CCA380265963F2c.833G>C (p.Gly278Ala)
c.803G>C (p.Gly268Ala)
c.785G>C (p.Gly262Ala)
n.877G>C
n.868G>C
11g.46726132G=CA1969072263F2c.833G= (p.Gly278=)
c.803G= (p.Gly268=)
c.785G= (p.Gly262=)
n.877G=
n.868G=
11g.46726132G>TCA380265966F2c.833G>T (p.Gly278Val)
c.803G>T (p.Gly268Val)
c.785G>T (p.Gly262Val)
n.877G>T
n.868G>T
11g.46726133G>ACA474043287F2c.834G>A (p.Gly278=)
c.804G>A (p.Gly268=)
c.786G>A (p.Gly262=)
n.878G>A
n.869G>A
11g.46726133G>CCA474043288F2c.834G>C (p.Gly278=)
c.804G>C (p.Gly268=)
c.786G>C (p.Gly262=)
n.878G>C
n.869G>C
11g.46726133G>TCA474043289F2c.834G>T (p.Gly278=)
c.804G>T (p.Gly268=)
c.786G>T (p.Gly262=)
n.878G>T
n.869G>T
11g.46726134A=CA1969072265F2c.835A= (p.Lys279=)
c.805A= (p.Lys269=)
c.787A= (p.Lys263=)
n.879A=
n.870A=
11g.46726134A>CCA380265970F2c.835A>C (p.Lys279Gln)
c.805A>C (p.Lys269Gln)
c.787A>C (p.Lys263Gln)
n.879A>C
n.870A>C
 dbSNP
11g.46726134A>GCA380265976F2c.835A>G (p.Lys279Glu)
c.805A>G (p.Lys269Glu)
c.787A>G (p.Lys263Glu)
n.879A>G
n.870A>G
11g.46726134A>TCA380265972F2c.835A>T (p.Lys279Ter)
c.805A>T (p.Lys269Ter)
c.787A>T (p.Lys263Ter)
n.879A>T
n.870A>T
11g.46726135A>CCA380265988F2c.836A>C (p.Lys279Thr)
c.806A>C (p.Lys269Thr)
c.788A>C (p.Lys263Thr)
n.880A>C
n.871A>C
 gnomAD v4
11g.46726135A>GCA380265991F2c.836A>G (p.Lys279Arg)
c.806A>G (p.Lys269Arg)
c.788A>G (p.Lys263Arg)
n.880A>G
n.871A>G
11g.46726135A>TCA380265995F2c.836A>T (p.Lys279Met)
c.806A>T (p.Lys269Met)
c.788A>T (p.Lys263Met)
n.880A>T
n.871A>T
11g.46726136G>ACA474043299F2c.837G>A (p.Lys279=)
c.807G>A (p.Lys269=)
c.789G>A (p.Lys263=)
n.881G>A
n.872G>A
11g.46726136G>CCA380265999F2c.837G>C (p.Lys279Asn)
c.807G>C (p.Lys269Asn)
c.789G>C (p.Lys263Asn)
n.881G>C
n.872G>C
11g.46726136G>TCA380266001F2c.837G>T (p.Lys279Asn)
c.807G>T (p.Lys269Asn)
c.789G>T (p.Lys263Asn)
n.881G>T
n.872G>T
11g.46726137C>ACA380266004F2c.838C>A (p.Pro280Thr)
c.808C>A (p.Pro270Thr)
c.790C>A (p.Pro264Thr)
n.882C>A
n.873C>A
 dbSNP gnomAD v3 gnomAD v4
11g.46726137C=CA1969072268F2c.838C= (p.Pro280=)
c.808C= (p.Pro270=)
c.790C= (p.Pro264=)
n.882C=
n.873C=
11g.46726137C>GCA5967060F2c.838C>G (p.Pro280Ala)
c.808C>G (p.Pro270Ala)
c.790C>G (p.Pro264Ala)
n.882C>G
n.873C>G
 dbSNP ExAC
11g.46726137C>TCA380266029F2c.838C>T (p.Pro280Ser)
c.808C>T (p.Pro270Ser)
c.790C>T (p.Pro264Ser)
n.882C>T
n.873C>T
 gnomAD v4
11g.46726138C>ACA380266035F2c.839C>A (p.Pro280His)
c.809C>A (p.Pro270His)
c.791C>A (p.Pro264His)
n.883C>A
n.874C>A
11g.46726138C>GCA380266038F2c.839C>G (p.Pro280Arg)
c.809C>G (p.Pro270Arg)
c.791C>G (p.Pro264Arg)
n.883C>G
n.874C>G
11g.46726138C>TCA380266048F2c.839C>T (p.Pro280Leu)
c.809C>T (p.Pro270Leu)
c.791C>T (p.Pro264Leu)
n.883C>T
n.874C>T
11g.46726139T>ACA474043311F2c.840T>A (p.Pro280=)
c.810T>A (p.Pro270=)
c.792T>A (p.Pro264=)
n.884T>A
n.875T>A
11g.46726139T>CCA474043310F2c.840T>C (p.Pro280=)
c.810T>C (p.Pro270=)
c.792T>C (p.Pro264=)
n.884T>C
n.875T>C
11g.46726139T>GCA474043308F2c.840T>G (p.Pro280=)
c.810T>G (p.Pro270=)
c.792T>G (p.Pro264=)
n.884T>G
n.875T>G
11g.46726140G>ACA221652203F2c.841G>A (p.Gly281Ser)
c.811G>A (p.Gly271Ser)
c.793G>A (p.Gly265Ser)
n.885G>A
n.876G>A
 dbSNP gnomAD v4
11g.46726140G>CCA380266057F2c.841G>C (p.Gly281Arg)
c.811G>C (p.Gly271Arg)
c.793G>C (p.Gly265Arg)
n.885G>C
n.876G>C
11g.46726140G=CA1969072271F2c.841G= (p.Gly281=)
c.811G= (p.Gly271=)
c.793G= (p.Gly265=)
n.885G=
n.876G=
11g.46726140G>TCA380266051F2c.841G>T (p.Gly281Cys)
c.811G>T (p.Gly271Cys)
c.793G>T (p.Gly265Cys)
n.885G>T
n.876G>T
11g.46726141G>ACA380266066F2c.842G>A (p.Gly281Asp)
c.812G>A (p.Gly271Asp)
c.794G>A (p.Gly265Asp)
n.886G>A
n.877G>A
11g.46726141G>CCA380266063F2c.842G>C (p.Gly281Ala)
c.812G>C (p.Gly271Ala)
c.794G>C (p.Gly265Ala)
n.886G>C
n.877G>C
11g.46726141G>TCA380266068F2c.842G>T (p.Gly281Val)
c.812G>T (p.Gly271Val)
c.794G>T (p.Gly265Val)
n.886G>T
n.877G>T
11g.46726142C>ACA474043331F2c.843C>A (p.Gly281=)
c.813C>A (p.Gly271=)
c.795C>A (p.Gly265=)
n.887C>A
n.878C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.46726142C=CA1969072275F2c.843C= (p.Gly281=)
c.813C= (p.Gly271=)
c.795C= (p.Gly265=)
n.887C=
n.878C=
11g.46726142C>GCA474043333F2c.843C>G (p.Gly281=)
c.813C>G (p.Gly271=)
c.795C>G (p.Gly265=)
n.887C>G
n.878C>G
11g.46726142C>TCA5967061F2c.843C>T (p.Gly281=)
c.813C>T (p.Gly271=)
c.795C>T (p.Gly265=)
n.887C>T
n.878C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726143G>ACA5967062F2c.844G>A (p.Asp282Asn)
c.814G>A (p.Asp272Asn)
c.796G>A (p.Asp266Asn)
n.888G>A
n.879G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726143G>CCA380266077F2c.844G>C (p.Asp282His)
c.814G>C (p.Asp272His)
c.796G>C (p.Asp266His)
n.888G>C
n.879G>C
 dbSNP gnomAD v4
11g.46726143G=CA1969072278F2c.844G= (p.Asp282=)
c.814G= (p.Asp272=)
c.796G= (p.Asp266=)
n.888G=
n.879G=
11g.46726143G>TCA380266092F2c.844G>T (p.Asp282Tyr)
c.814G>T (p.Asp272Tyr)
c.796G>T (p.Asp266Tyr)
n.888G>T
n.879G>T
 gnomAD v4
11g.46726144A=CA1969072281F2c.845A= (p.Asp282=)
c.815A= (p.Asp272=)
c.797A= (p.Asp266=)
n.889A=
n.880A=
11g.46726144A>CCA380266095F2c.845A>C (p.Asp282Ala)
c.815A>C (p.Asp272Ala)
c.797A>C (p.Asp266Ala)
n.889A>C
n.880A>C
11g.46726144A>GCA380266097F2c.845A>G (p.Asp282Gly)
c.815A>G (p.Asp272Gly)
c.797A>G (p.Asp266Gly)
n.889A>G
n.880A>G
11g.46726144A>TCA221652231F2c.845A>T (p.Asp282Val)
c.815A>T (p.Asp272Val)
c.797A>T (p.Asp266Val)
n.889A>T
n.880A>T
 dbSNP
11g.46726145C>ACA380266109F2c.846C>A (p.Asp282Glu)
c.816C>A (p.Asp272Glu)
c.798C>A (p.Asp266Glu)
n.890C>A
n.881C>A
11g.46726145C=CA1969072286F2c.846C= (p.Asp282=)
c.816C= (p.Asp272=)
c.798C= (p.Asp266=)
n.890C=
n.881C=
11g.46726145C>GCA380266113F2c.846C>G (p.Asp282Glu)
c.816C>G (p.Asp272Glu)
c.798C>G (p.Asp266Glu)
n.890C>G
n.881C>G
11g.46726145C>TCA5967063F2c.846C>T (p.Asp282=)
c.816C>T (p.Asp272=)
c.798C>T (p.Asp266=)
n.890C>T
n.881C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.46726146T>ACA380266117F2c.847T>A (p.Phe283Ile)
c.817T>A (p.Phe273Ile)
c.799T>A (p.Phe267Ile)
n.891T>A
n.882T>A
11g.46726146T>CCA380266120F2c.847T>C (p.Phe283Leu)
c.817T>C (p.Phe273Leu)
c.799T>C (p.Phe267Leu)
n.891T>C
n.882T>C
11g.46726146T>GCA380266121F2c.847T>G (p.Phe283Val)
c.817T>G (p.Phe273Val)
c.799T>G (p.Phe267Val)
n.891T>G
n.882T>G
11g.46726147T>ACA380266123F2c.848T>A (p.Phe283Tyr)
c.818T>A (p.Phe273Tyr)
c.800T>A (p.Phe267Tyr)
n.892T>A
n.883T>A
11g.46726147T>CCA380266127F2c.848T>C (p.Phe283Ser)
c.818T>C (p.Phe273Ser)
c.800T>C (p.Phe267Ser)
n.892T>C
n.883T>C
 dbSNP gnomAD v4
11g.46726147T>GCA380266128F2c.848T>G (p.Phe283Cys)
c.818T>G (p.Phe273Cys)
c.800T>G (p.Phe267Cys)
n.892T>G
n.883T>G
11g.46726147T=CA1969072292F2c.848T= (p.Phe283=)
c.818T= (p.Phe273=)
c.800T= (p.Phe267=)
n.892T=
n.883T=
11g.46726148T>ACA380266132F2c.849T>A (p.Phe283Leu)
c.819T>A (p.Phe273Leu)
c.801T>A (p.Phe267Leu)
n.893T>A
n.884T>A
11g.46726148T>CCA221652241F2c.849T>C (p.Phe283=)
c.819T>C (p.Phe273=)
c.801T>C (p.Phe267=)
n.893T>C
n.884T>C
 dbSNP gnomAD v4
11g.46726148T>GCA380266134F2c.849T>G (p.Phe283Leu)
c.819T>G (p.Phe273Leu)
c.801T>G (p.Phe267Leu)
n.893T>G
n.884T>G
 gnomAD v4
11g.46726148T=CA1969072294F2c.849T= (p.Phe283=)
c.819T= (p.Phe273=)
c.801T= (p.Phe267=)
n.893T=
n.884T=
11g.46726148_46726149delinsTGCA1969072296F2c.849_850delinsTG (p.Phe283=)
c.819_820delinsTG (p.Phe273=)
c.801_802delinsTG (p.Phe267=)
n.893_894delinsTG
n.884_885delinsTG
11g.46726149G>ACA380266139F2c.850G>A (p.Gly284Arg)
c.820G>A (p.Gly274Arg)
c.802G>A (p.Gly268Arg)
n.894G>A
n.885G>A
11g.46726149G>CCA380266141F2c.850G>C (p.Gly284Arg)
c.820G>C (p.Gly274Arg)
c.802G>C (p.Gly268Arg)
n.894G>C
n.885G>C
11g.46726149G>TCA380266143F2c.850G>T (p.Gly284Trp)
c.820G>T (p.Gly274Trp)
c.802G>T (p.Gly268Trp)
n.894G>T
n.885G>T
11g.46726151delCA5967064F2c.852del (p.Tyr285ThrfsTer?)
c.822del (p.Tyr275ThrfsTer?)
c.804del (p.Tyr269ThrfsTer?)
n.896del
n.887del
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.46726150G>ACA380266149F2c.851G>A (p.Gly284Glu)
c.821G>A (p.Gly274Glu)
c.803G>A (p.Gly268Glu)
n.895G>A
n.886G>A
 dbSNP
11g.46726150G>CCA380266151F2c.851G>C (p.Gly284Ala)
c.821G>C (p.Gly274Ala)
c.803G>C (p.Gly268Ala)
n.895G>C
n.886G>C
11g.46726150G=CA1969072297F2c.851G= (p.Gly284=)
c.821G= (p.Gly274=)
c.803G= (p.Gly268=)
n.895G=
n.886G=
11g.46726150G>TCA380266153F2c.851G>T (p.Gly284Val)
c.821G>T (p.Gly274Val)
c.803G>T (p.Gly268Val)
n.895G>T
n.886G>T
11g.46726151G>ACA474043374F2c.852G>A (p.Gly284=)
c.822G>A (p.Gly274=)
c.804G>A (p.Gly268=)
n.896G>A
n.887G>A
 dbSNP
11g.46726151G>CCA474043378F2c.852G>C (p.Gly284=)
c.822G>C (p.Gly274=)
c.804G>C (p.Gly268=)
n.896G>C
n.887G>C
11g.46726151G=CA1969072300F2c.852G= (p.Gly284=)
c.822G= (p.Gly274=)
c.804G= (p.Gly268=)
n.896G=
n.887G=
11g.46726151G>TCA474043380F2c.852G>T (p.Gly284=)
c.822G>T (p.Gly274=)
c.804G>T (p.Gly268=)
n.896G>T
n.887G>T
11g.46726152T>ACA380266157F2c.853T>A (p.Tyr285Asn)
c.823T>A (p.Tyr275Asn)
c.805T>A (p.Tyr269Asn)
n.897T>A
n.888T>A
11g.46726152T>CCA380266158F2c.853T>C (p.Tyr285His)
c.823T>C (p.Tyr275His)
c.805T>C (p.Tyr269His)
n.897T>C
n.888T>C
11g.46726152T>GCA380266161F2c.853T>G (p.Tyr285Asp)
c.823T>G (p.Tyr275Asp)
c.805T>G (p.Tyr269Asp)
n.897T>G
n.888T>G
11g.46726153A>CCA380266166F2c.854A>C (p.Tyr285Ser)
c.824A>C (p.Tyr275Ser)
c.806A>C (p.Tyr269Ser)
n.898A>C
n.889A>C
11g.46726153A>GCA380266168F2c.854A>G (p.Tyr285Cys)
c.824A>G (p.Tyr275Cys)
c.806A>G (p.Tyr269Cys)
n.898A>G
n.889A>G
11g.46726153A>TCA380266164F2c.854A>T (p.Tyr285Phe)
c.824A>T (p.Tyr275Phe)
c.806A>T (p.Tyr269Phe)
n.898A>T
n.889A>T
11g.46726154C>ACA380266171F2c.855C>A (p.Tyr285Ter)
c.825C>A (p.Tyr275Ter)
c.807C>A (p.Tyr269Ter)
n.899C>A
n.890C>A
11g.46726154C>GCA380266172F2c.855C>G (p.Tyr285Ter)
c.825C>G (p.Tyr275Ter)
c.807C>G (p.Tyr269Ter)
n.899C>G
n.890C>G
11g.46726154C>TCA474043385F2c.855C>T (p.Tyr285=)
c.825C>T (p.Tyr275=)
c.807C>T (p.Tyr269=)
n.899C>T
n.890C>T
11g.46726155T>ACA380266173F2c.856T>A (p.Cys286Ser)
c.826T>A (p.Cys276Ser)
c.808T>A (p.Cys270Ser)
n.900T>A
n.891T>A
11g.46726155T>CCA380266175F2c.856T>C (p.Cys286Arg)
c.826T>C (p.Cys276Arg)
c.808T>C (p.Cys270Arg)
n.900T>C
n.891T>C
11g.46726155T>GCA380266177F2c.856T>G (p.Cys286Gly)
c.826T>G (p.Cys276Gly)
c.808T>G (p.Cys270Gly)
n.900T>G
n.891T>G
11g.46726156G>ACA380266179F2c.857G>A (p.Cys286Tyr)
c.827G>A (p.Cys276Tyr)
c.809G>A (p.Cys270Tyr)
n.901G>A
n.892G>A
 dbSNP
11g.46726156G>CCA380266181F2c.857G>C (p.Cys286Ser)
c.827G>C (p.Cys276Ser)
c.809G>C (p.Cys270Ser)
n.901G>C
n.892G>C
11g.46726156G=CA1969072301F2c.857G= (p.Cys286=)
c.827G= (p.Cys276=)
c.809G= (p.Cys270=)
n.901G=
n.892G=
11g.46726156G>TCA380266182F2c.857G>T (p.Cys286Phe)
c.827G>T (p.Cys276Phe)
c.809G>T (p.Cys270Phe)
n.901G>T
n.892G>T

Number of alleles fetched