Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154969329_154969448delCA2695237407F8c.893_1009+3del
c.*769_*885+3del
c.788_904+3del
Xg.154969438_154969450delinsAATTTCCA2695237459F8c.890_902delinsGAAATT (p.Val297GlyfsTer12)
c.*766_*778delinsGAAATT (n.*766_*778delinsGAAATT)
c.785_797delinsGAAATT (p.Val262GlyfsTer12)
Xg.154969444T>ACA255078F8c.896A>T (p.Asn299Ile)
c.*772A>T (n.*772A>T)
c.791A>T (p.Asn264Ile)
ClinVar dbSNP
Xg.154969444T>CCA414918012F8c.896A>G (p.Asn299Ser)
c.*772A>G (n.*772A>G)
c.791A>G (p.Asn264Ser)
Xg.154969444T>GCA414918013F8c.896A>C (p.Asn299Thr)
c.*772A>C (n.*772A>C)
c.791A>C (p.Asn264Thr)
Xg.154969444T=CA2466849016F8c.896A= (p.Asn299=)
c.*772A= (n.*772A=)
c.791A= (p.Asn264=)
Xg.154969444_154969445insAATATCTTGGATCCA2466849017F8c.895_896insGATCCAAGATATT (p.Asn299ArgfsTer?)
c.*771_*772insGATCCAAGATATT (n.*771_*772insGATCCAAGATATT)
c.790_791insGATCCAAGATATT (p.Asn264ArgfsTer?)
dbSNP
Xg.154969445T>ACA414918016F8c.895A>T (p.Asn299Tyr)
c.*771A>T (n.*771A>T)
c.790A>T (p.Asn264Tyr)
Xg.154969445T>CCA414918018F8c.895A>G (p.Asn299Asp)
c.*771A>G (n.*771A>G)
c.790A>G (p.Asn264Asp)
Xg.154969445T>GCA414918020F8c.895A>C (p.Asn299His)
c.*771A>C (n.*771A>C)
c.790A>C (p.Asn264His)
Xg.154969446C>ACA414918022F8c.894G>T (p.Arg298Ser)
c.*770G>T (n.*770G>T)
c.789G>T (p.Arg263Ser)
COSMIC COSMIC
Xg.154969446C>GCA414918026F8c.894G>C (p.Arg298Ser)
c.*770G>C (n.*770G>C)
c.789G>C (p.Arg263Ser)
Xg.154969446C>TCA519367440F8c.894G>A (p.Arg298=)
c.*770G>A (n.*770G>A)
c.789G>A (p.Arg263=)
Xg.154969447C>ACA414918030F8c.893G>T (p.Arg298Met)
c.*769G>T (n.*769G>T)
c.788G>T (p.Arg263Met)
Xg.154969447C>GCA414918032F8c.893G>C (p.Arg298Thr)
c.*769G>C (n.*769G>C)
c.788G>C (p.Arg263Thr)
Xg.154969447C>TCA414918028F8c.893G>A (p.Arg298Lys)
c.*769G>A (n.*769G>A)
c.788G>A (p.Arg263Lys)
Xg.154969448T>ACA414918036F8c.892A>T (p.Arg298Trp)
c.*768A>T (n.*768A>T)
c.787A>T (p.Arg263Trp)
Xg.154969448T>CCA414918034F8c.892A>G (p.Arg298Gly)
c.*768A>G (n.*768A>G)
c.787A>G (p.Arg263Gly)
Xg.154969448T>GCA519367446F8c.892A>C (p.Arg298=)
c.*768A>C (n.*768A>C)
c.787A>C (p.Arg263=)
Xg.154969449C>ACA519367448F8c.891G>T (p.Val297=)
c.*767G>T (n.*767G>T)
c.786G>T (p.Val262=)
Xg.154969449C=CA2466849018F8c.891G= (p.Val297=)
c.*767G= (n.*767G=)
c.786G= (p.Val262=)
Xg.154969449C>GCA519367450F8c.891G>C (p.Val297=)
c.*767G>C (n.*767G>C)
c.786G>C (p.Val262=)
Xg.154969449C>TCA519367453F8c.891G>A (p.Val297=)
c.*767G>A (n.*767G>A)
c.786G>A (p.Val262=)
dbSNP
Xg.154969450A=CA2466849019F8c.890T= (p.Val297=)
c.*766T= (n.*766T=)
c.785T= (p.Val262=)
Xg.154969450A>CCA414918040F8c.890T>G (p.Val297Gly)
c.*766T>G (n.*766T>G)
c.785T>G (p.Val262Gly)
Xg.154969450A>GCA414918038F8c.890T>C (p.Val297Ala)
c.*766T>C (n.*766T>C)
c.785T>C (p.Val262Ala)
dbSNP
Xg.154969450A>TCA414918041F8c.890T>A (p.Val297Glu)
c.*766T>A (n.*766T>A)
c.785T>A (p.Val262Glu)
Xg.154969451delCA2695237462F8c.889del (p.Val297Ter)
c.*765del (n.*765del)
c.784del (p.Val262Ter)
Xg.154969451C>ACA414918043F8c.889G>T (p.Val297Leu)
c.*765G>T (n.*765G>T)
c.784G>T (p.Val262Leu)
Xg.154969451C>GCA414918051F8c.889G>C (p.Val297Leu)
c.*765G>C (n.*765G>C)
c.784G>C (p.Val262Leu)
Xg.154969451C>TCA414918045F8c.889G>A (p.Val297Met)
c.*765G>A (n.*765G>A)
c.784G>A (p.Val262Met)
Xg.154969452A>CCA519367463F8c.888T>G (p.Leu296=)
c.*764T>G (n.*764T>G)
c.783T>G (p.Leu261=)
Xg.154969452A>GCA519367464F8c.888T>C (p.Leu296=)
c.*764T>C (n.*764T>C)
c.783T>C (p.Leu261=)
Xg.154969452A>TCA519367466F8c.888T>A (p.Leu296=)
c.*764T>A (n.*764T>A)
c.783T>A (p.Leu261=)
Xg.154969453A>CCA414918053F8c.887T>G (p.Leu296Arg)
c.*763T>G (n.*763T>G)
c.782T>G (p.Leu261Arg)
Xg.154969453A>GCA414918057F8c.887T>C (p.Leu296Pro)
c.*763T>C (n.*763T>C)
c.782T>C (p.Leu261Pro)
Xg.154969453A>TCA414918056F8c.887T>A (p.Leu296His)
c.*763T>A (n.*763T>A)
c.782T>A (p.Leu261His)
Xg.154969454G>ACA414918059F8c.886C>T (p.Leu296Phe)
c.*762C>T (n.*762C>T)
c.781C>T (p.Leu261Phe)
COSMIC COSMIC
Xg.154969454G>CCA414918062F8c.886C>G (p.Leu296Val)
c.*762C>G (n.*762C>G)
c.781C>G (p.Leu261Val)
Xg.154969454G>TCA414918064F8c.886C>A (p.Leu296Ile)
c.*762C>A (n.*762C>A)
c.781C>A (p.Leu261Ile)
Xg.154969455A>CCA414918066F8c.885T>G (p.Phe295Leu)
c.*761T>G (n.*761T>G)
c.780T>G (p.Phe260Leu)
Xg.154969455A>GCA519367477F8c.885T>C (p.Phe295=)
c.*761T>C (n.*761T>C)
c.780T>C (p.Phe260=)
Xg.154969455A>TCA414918068F8c.885T>A (p.Phe295Leu)
c.*761T>A (n.*761T>A)
c.780T>A (p.Phe260Leu)
Xg.154969456A>CCA414918071F8c.884T>G (p.Phe295Cys)
c.*760T>G (n.*760T>G)
c.779T>G (p.Phe260Cys)
Xg.154969456A>GCA414918072F8c.884T>C (p.Phe295Ser)
c.*760T>C (n.*760T>C)
c.779T>C (p.Phe260Ser)
Xg.154969456A>TCA414918074F8c.884T>A (p.Phe295Tyr)
c.*760T>A (n.*760T>A)
c.779T>A (p.Phe260Tyr)
Xg.154969457A>CCA414918076F8c.883T>G (p.Phe295Val)
c.*759T>G (n.*759T>G)
c.778T>G (p.Phe260Val)
Xg.154969457A>GCA414918080F8c.883T>C (p.Phe295Leu)
c.*759T>C (n.*759T>C)
c.778T>C (p.Phe260Leu)
Xg.154969457A>TCA414918082F8c.883T>A (p.Phe295Ile)
c.*759T>A (n.*759T>A)
c.778T>A (p.Phe260Ile)
Xg.154969457_154969459delinsATGCA2466849020F8c.881_883delinsCAT (p.Thr294=)
c.*757_*759delinsCAT (n.*757_*759delinsCAT)
c.776_778delinsCAT (p.Thr259=)
Xg.154969458T>ACA519367488F8c.882A>T (p.Thr294=)
c.*758A>T (n.*758A>T)
c.777A>T (p.Thr259=)
Xg.154969458T>CCA519367485F8c.882A>G (p.Thr294=)
c.*758A>G (n.*758A>G)
c.777A>G (p.Thr259=)
Xg.154969458T>GCA519367487F8c.882A>C (p.Thr294=)
c.*758A>C (n.*758A>C)
c.777A>C (p.Thr259=)
Xg.154969462_154969463delCA2466849021F8c.881_882del (p.Thr294IlefsTer?)
c.*757_*758del (n.*757_*758del)
c.776_777del (p.Thr259IlefsTer?)
dbSNP
Xg.154969459G>ACA255077F8c.881C>T (p.Thr294Ile)
c.*757C>T (n.*757C>T)
c.776C>T (p.Thr259Ile)
ClinVar dbSNP
Xg.154969459G>CCA414918087F8c.881C>G (p.Thr294Arg)
c.*757C>G (n.*757C>G)
c.776C>G (p.Thr259Arg)
ClinVar
Xg.154969459G=CA2466849022F8c.881C= (p.Thr294=)
c.*757C= (n.*757C=)
c.776C= (p.Thr259=)
Xg.154969459G>TCA414918084F8c.881C>A (p.Thr294Lys)
c.*757C>A (n.*757C>A)
c.776C>A (p.Thr259Lys)
Xg.154969460T>ACA414918090F8c.880A>T (p.Thr294Ser)
c.*756A>T (n.*756A>T)
c.775A>T (p.Thr259Ser)
COSMIC COSMIC
Xg.154969460T>CCA414918091F8c.880A>G (p.Thr294Ala)
c.*756A>G (n.*756A>G)
c.775A>G (p.Thr259Ala)
Xg.154969460T>GCA414918093F8c.880A>C (p.Thr294Pro)
c.*756A>C (n.*756A>C)
c.775A>C (p.Thr259Pro)
Xg.154969461G>ACA10568529F8c.879C>T (p.His293=)
c.*755C>T (n.*755C>T)
c.774C>T (p.His258=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154969461G>CCA414918095F8c.879C>G (p.His293Gln)
c.*755C>G (n.*755C>G)
c.774C>G (p.His258Gln)
Xg.154969461G=CA2466849023F8c.879C= (p.His293=)
c.*755C= (n.*755C=)
c.774C= (p.His258=)
Xg.154969461G>TCA414918096F8c.879C>A (p.His293Gln)
c.*755C>A (n.*755C>A)
c.774C>A (p.His258Gln)
Xg.154969462T>ACA414918098F8c.878A>T (p.His293Leu)
c.*754A>T (n.*754A>T)
c.773A>T (p.His258Leu)
Xg.154969462T>CCA414918100F8c.878A>G (p.His293Arg)
c.*754A>G (n.*754A>G)
c.773A>G (p.His258Arg)
dbSNP
Xg.154969462T>GCA414918102F8c.878A>C (p.His293Pro)
c.*754A>C (n.*754A>C)
c.773A>C (p.His258Pro)
gnomAD v4
Xg.154969462T=CA2466849024F8c.878A= (p.His293=)
c.*754A= (n.*754A=)
c.773A= (p.His258=)
Xg.154969463G>ACA414918105F8c.877C>T (p.His293Tyr)
c.*753C>T (n.*753C>T)
c.772C>T (p.His258Tyr)
Xg.154969463G>CCA414918107F8c.877C>G (p.His293Asp)
c.*753C>G (n.*753C>G)
c.772C>G (p.His258Asp)
ClinVar dbSNP
Xg.154969463G=CA2466849025F8c.877C= (p.His293=)
c.*753C= (n.*753C=)
c.772C= (p.His258=)
Xg.154969463G>TCA414918108F8c.877C>A (p.His293Asn)
c.*753C>A (n.*753C>A)
c.772C>A (p.His258Asn)
Xg.154969464A>CCA519367503F8c.876T>G (p.Gly292=)
c.*752T>G (n.*752T>G)
c.771T>G (p.Gly257=)
Xg.154969464A>GCA519367504F8c.876T>C (p.Gly292=)
c.*752T>C (n.*752T>C)
c.771T>C (p.Gly257=)
Xg.154969464A>TCA519367505F8c.876T>A (p.Gly292=)
c.*752T>A (n.*752T>A)
c.771T>A (p.Gly257=)
Xg.154969465C>ACA414918110F8c.875G>T (p.Gly292Val)
c.*751G>T (n.*751G>T)
c.770G>T (p.Gly257Val)
Xg.154969465C=CA2466849026F8c.875G= (p.Gly292=)
c.*751G= (n.*751G=)
c.770G= (p.Gly257=)
Xg.154969465C>GCA414918114F8c.875G>C (p.Gly292Ala)
c.*751G>C (n.*751G>C)
c.770G>C (p.Gly257Ala)
Xg.154969465C>TCA414918112F8c.875G>A (p.Gly292Asp)
c.*751G>A (n.*751G>A)
c.770G>A (p.Gly257Asp)
dbSNP gnomAD v2 gnomAD v4
Xg.154969466C>ACA414918116F8c.874G>T (p.Gly292Cys)
c.*750G>T (n.*750G>T)
c.769G>T (p.Gly257Cys)
Xg.154969466C>GCA414918120F8c.874G>C (p.Gly292Arg)
c.*750G>C (n.*750G>C)
c.769G>C (p.Gly257Arg)
Xg.154969466C>TCA414918121F8c.874G>A (p.Gly292Ser)
c.*750G>A (n.*750G>A)
c.769G>A (p.Gly257Ser)
Xg.154969467T>ACA414918122F8c.873A>T (p.Glu291Asp)
c.*749A>T (n.*749A>T)
c.768A>T (p.Glu256Asp)
Xg.154969467T>CCA519367512F8c.873A>G (p.Glu291=)
c.*749A>G (n.*749A>G)
c.768A>G (p.Glu256=)
Xg.154969467T>GCA414918124F8c.873A>C (p.Glu291Asp)
c.*749A>C (n.*749A>C)
c.768A>C (p.Glu256Asp)
Xg.154969468T>ACA414918127F8c.872A>T (p.Glu291Val)
c.*748A>T (n.*748A>T)
c.767A>T (p.Glu256Val)
Xg.154969468T>CCA255017F8c.872A>G (p.Glu291Gly)
c.*748A>G (n.*748A>G)
c.767A>G (p.Glu256Gly)
ClinVar dbSNP
Xg.154969468T>GCA414918129F8c.872A>C (p.Glu291Ala)
c.*748A>C (n.*748A>C)
c.767A>C (p.Glu256Ala)
Xg.154969468T=CA2466849027F8c.872A= (p.Glu291=)
c.*748A= (n.*748A=)
c.767A= (p.Glu256=)
Xg.154969469delCA2695237468F8c.871del (p.Glu291LysfsTer7)
c.*747del (n.*747del)
c.766del (p.Glu256LysfsTer7)
Xg.154969469C>ACA414918132F8c.871G>T (p.Glu291Ter)
c.*747G>T (n.*747G>T)
c.766G>T (p.Glu256Ter)
Xg.154969469C=CA2466849028F8c.871G= (p.Glu291=)
c.*747G= (n.*747G=)
c.766G= (p.Glu256=)
Xg.154969469C>GCA414918133F8c.871G>C (p.Glu291Gln)
c.*747G>C (n.*747G>C)
c.766G>C (p.Glu256Gln)
Xg.154969469C>TCA414918134F8c.871G>A (p.Glu291Lys)
c.*747G>A (n.*747G>A)
c.766G>A (p.Glu256Lys)
ClinVar dbSNP gnomAD v4
Xg.154969470G>ACA337337622F8c.870C>T (p.Leu290=)
c.*746C>T (n.*746C>T)
c.765C>T (p.Leu255=)
dbSNP gnomAD v2 gnomAD v4
Xg.154969470G>CCA519367521F8c.870C>G (p.Leu290=)
c.*746C>G (n.*746C>G)
c.765C>G (p.Leu255=)
Xg.154969470G=CA2466849029F8c.870C= (p.Leu290=)
c.*746C= (n.*746C=)
c.765C= (p.Leu255=)
Xg.154969470G>TCA519367524F8c.870C>A (p.Leu290=)
c.*746C>A (n.*746C>A)
c.765C>A (p.Leu255=)
Xg.154969471A=CA2466849030F8c.869T= (p.Leu290=)
c.*745T= (n.*745T=)
c.764T= (p.Leu255=)
Xg.154969471A>CCA414918137F8c.869T>G (p.Leu290Arg)
c.*745T>G (n.*745T>G)
c.764T>G (p.Leu255Arg)
Xg.154969471A>GCA414918139F8c.869T>C (p.Leu290Pro)
c.*745T>C (n.*745T>C)
c.764T>C (p.Leu255Pro)
dbSNP
Xg.154969471A>TCA414918138F8c.869T>A (p.Leu290His)
c.*745T>A (n.*745T>A)
c.764T>A (p.Leu255His)
Xg.154969472G>ACA414918141F8c.868C>T (p.Leu290Phe)
c.*744C>T (n.*744C>T)
c.763C>T (p.Leu255Phe)
Xg.154969472G>CCA414918143F8c.868C>G (p.Leu290Val)
c.*744C>G (n.*744C>G)
c.763C>G (p.Leu255Val)
Xg.154969472G>TCA414918144F8c.868C>A (p.Leu290Ile)
c.*744C>A (n.*744C>A)
c.763C>A (p.Leu255Ile)
COSMIC COSMIC
Xg.154969473G>ACA337337638F8c.867C>T (p.Phe289=)
c.*743C>T (n.*743C>T)
c.762C>T (p.Phe254=)
dbSNP gnomAD v4
Xg.154969473G>CCA414918145F8c.867C>G (p.Phe289Leu)
c.*743C>G (n.*743C>G)
c.762C>G (p.Phe254Leu)
Xg.154969473G=CA2466849031F8c.867C= (p.Phe289=)
c.*743C= (n.*743C=)
c.762C= (p.Phe254=)
Xg.154969473G>TCA414918147F8c.867C>A (p.Phe289Leu)
c.*743C>A (n.*743C>A)
c.762C>A (p.Phe254Leu)
Xg.154969474A>CCA414918150F8c.866T>G (p.Phe289Cys)
c.*742T>G (n.*742T>G)
c.761T>G (p.Phe254Cys)
Xg.154969474A>GCA414918151F8c.866T>C (p.Phe289Ser)
c.*742T>C (n.*742T>C)
c.761T>C (p.Phe254Ser)
Xg.154969474A>TCA414918152F8c.866T>A (p.Phe289Tyr)
c.*742T>A (n.*742T>A)
c.761T>A (p.Phe254Tyr)
Xg.154969475A>CCA414918157F8c.865T>G (p.Phe289Val)
c.*741T>G (n.*741T>G)
c.760T>G (p.Phe254Val)
Xg.154969475A>GCA414918155F8c.865T>C (p.Phe289Leu)
c.*741T>C (n.*741T>C)
c.760T>C (p.Phe254Leu)
Xg.154969475A>TCA414918153F8c.865T>A (p.Phe289Ile)
c.*741T>A (n.*741T>A)
c.760T>A (p.Phe254Ile)
Xg.154969476T>ACA519367536F8c.864A>T (p.Ile288=)
c.*740A>T (n.*740A>T)
c.759A>T (p.Ile253=)
Xg.154969476T>CCA414918159F8c.864A>G (p.Ile288Met)
c.*740A>G (n.*740A>G)
c.759A>G (p.Ile253Met)
Xg.154969476T>GCA519367538F8c.864A>C (p.Ile288=)
c.*740A>C (n.*740A>C)
c.759A>C (p.Ile253=)
Xg.154969477A>CCA414918165F8c.863T>G (p.Ile288Arg)
c.*739T>G (n.*739T>G)
c.758T>G (p.Ile253Arg)
Xg.154969477A>GCA414918161F8c.863T>C (p.Ile288Thr)
c.*739T>C (n.*739T>C)
c.758T>C (p.Ile253Thr)
Xg.154969477A>TCA414918163F8c.863T>A (p.Ile288Lys)
c.*739T>A (n.*739T>A)
c.758T>A (p.Ile253Lys)
Xg.154969478T>ACA414918167F8c.862A>T (p.Ile288Leu)
c.*738A>T (n.*738A>T)
c.757A>T (p.Ile253Leu)
Xg.154969478T>CCA414918170F8c.862A>G (p.Ile288Val)
c.*738A>G (n.*738A>G)
c.757A>G (p.Ile253Val)
dbSNP gnomAD v2 gnomAD v4
Xg.154969478T>GCA414918172F8c.862A>C (p.Ile288Leu)
c.*738A>C (n.*738A>C)
c.757A>C (p.Ile253Leu)
Xg.154969478T=CA2466849032F8c.862A= (p.Ile288=)
c.*738A= (n.*738A=)
c.757A= (p.Ile253=)
Xg.154969479delCA2695237470F8c.862del (p.Ile288TyrfsTer10)
c.*738del (n.*738del)
c.757del (p.Ile253TyrfsTer10)
Xg.154969479T>ACA519367547F8c.861A>T (p.Ser287=)
c.*737A>T (n.*737A>T)
c.756A>T (p.Ser252=)
Xg.154969479T>CCA519367549F8c.861A>G (p.Ser287=)
c.*737A>G (n.*737A>G)
c.756A>G (p.Ser252=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154969479T>GCA519367551F8c.861A>C (p.Ser287=)
c.*737A>C (n.*737A>C)
c.756A>C (p.Ser252=)
Xg.154969479T=CA2466849033F8c.861A= (p.Ser287=)
c.*737A= (n.*737A=)
c.756A= (p.Ser252=)
Xg.154969480G>ACA414918174F8c.860C>T (p.Ser287Leu)
c.*736C>T (n.*736C>T)
c.755C>T (p.Ser252Leu)
Xg.154969480G>CCA414918176F8c.860C>G (p.Ser287Ter)
c.*736C>G (n.*736C>G)
c.755C>G (p.Ser252Ter)
dbSNP
Xg.154969480G=CA2466849034F8c.860C= (p.Ser287=)
c.*736C= (n.*736C=)
c.755C= (p.Ser252=)
Xg.154969480G>TCA414918178F8c.860C>A (p.Ser287Ter)
c.*736C>A (n.*736C>A)
c.755C>A (p.Ser252Ter)
dbSNP
Xg.154969481A>CCA414918180F8c.859T>G (p.Ser287Ala)
c.*735T>G (n.*735T>G)
c.754T>G (p.Ser252Ala)
Xg.154969481A>GCA414918182F8c.859T>C (p.Ser287Pro)
c.*735T>C (n.*735T>C)
c.754T>C (p.Ser252Pro)
Xg.154969481A>TCA414918184F8c.859T>A (p.Ser287Thr)
c.*735T>A (n.*735T>A)
c.754T>A (p.Ser252Thr)
Xg.154969482G>ACA519367560F8c.858C>T (p.His286=)
c.*734C>T (n.*734C>T)
c.753C>T (p.His251=)
gnomAD v4
Xg.154969482G>CCA414918187F8c.858C>G (p.His286Gln)
c.*734C>G (n.*734C>G)
c.753C>G (p.His251Gln)
dbSNP
Xg.154969482G=CA2466849035F8c.858C= (p.His286=)
c.*734C= (n.*734C=)
c.753C= (p.His251=)
Xg.154969482G>TCA414918185F8c.858C>A (p.His286Gln)
c.*734C>A (n.*734C>A)
c.753C>A (p.His251Gln)
Xg.154969483T>ACA414918189F8c.857A>T (p.His286Leu)
c.*733A>T (n.*733A>T)
c.752A>T (p.His251Leu)
Xg.154969483T>CCA414918191F8c.857A>G (p.His286Arg)
c.*733A>G (n.*733A>G)
c.752A>G (p.His251Arg)
dbSNP
Xg.154969483T>GCA414918192F8c.857A>C (p.His286Pro)
c.*733A>C (n.*733A>C)
c.752A>C (p.His251Pro)
Xg.154969483T=CA2466849036F8c.857A= (p.His286=)
c.*733A= (n.*733A=)
c.752A= (p.His251=)
Xg.154969483dupCA2695237471F8c.857dup (p.His286GlnfsTer?)
c.*733dup (n.*733dup)
c.752dup (p.His251GlnfsTer?)
Xg.154969484G>ACA414918193F8c.856C>T (p.His286Tyr)
c.*732C>T (n.*732C>T)
c.751C>T (p.His251Tyr)
dbSNP
Xg.154969484G>CCA414918194F8c.856C>G (p.His286Asp)
c.*732C>G (n.*732C>G)
c.751C>G (p.His251Asp)
Xg.154969484G=CA2466849037F8c.856C= (p.His286=)
c.*732C= (n.*732C=)
c.751C= (p.His251=)
Xg.154969484G>TCA414918196F8c.856C>A (p.His286Asn)
c.*732C>A (n.*732C>A)
c.751C>A (p.His251Asn)
Xg.154969485C>ACA519367569F8c.855G>T (p.Val285=)
c.*731G>T (n.*731G>T)
c.750G>T (p.Val250=)
Xg.154969485C=CA2466849038F8c.855G= (p.Val285=)
c.*731G= (n.*731G=)
c.750G= (p.Val250=)
Xg.154969485C>GCA519367571F8c.855G>C (p.Val285=)
c.*731G>C (n.*731G>C)
c.750G>C (p.Val250=)
Xg.154969485C>TCA519367572F8c.855G>A (p.Val285=)
c.*731G>A (n.*731G>A)
c.750G>A (p.Val250=)
dbSNP COSMIC COSMIC
Xg.154969485dupCA2695237474F8c.855dup (p.His286AlafsTer?)
c.*731dup (n.*731dup)
c.750dup (p.His251AlafsTer?)
Xg.154969486A=CA2466849039F8c.854T= (p.Val285=)
c.*730T= (n.*730T=)
c.749T= (p.Val250=)
Xg.154969486A>CCA255076F8c.854T>G (p.Val285Gly)
c.*730T>G (n.*730T>G)
c.749T>G (p.Val250Gly)
ClinVar dbSNP
Xg.154969486A>GCA414918199F8c.854T>C (p.Val285Ala)
c.*730T>C (n.*730T>C)
c.749T>C (p.Val250Ala)
Xg.154969486A>TCA414918201F8c.854T>A (p.Val285Glu)
c.*730T>A (n.*730T>A)
c.749T>A (p.Val250Glu)
Xg.154969487C>ACA414918203F8c.853G>T (p.Val285Leu)
c.*729G>T (n.*729G>T)
c.748G>T (p.Val250Leu)
Xg.154969487C=CA2466849040F8c.853G= (p.Val285=)
c.*729G= (n.*729G=)
c.748G= (p.Val250=)
Xg.154969487C>GCA414918205F8c.853G>C (p.Val285Leu)
c.*729G>C (n.*729G>C)
c.748G>C (p.Val250Leu)
Xg.154969487C>TCA414918207F8c.853G>A (p.Val285Met)
c.*729G>A (n.*729G>A)
c.748G>A (p.Val250Met)
ClinVar dbSNP
Xg.154969488T>ACA414918209F8c.852A>T (p.Glu284Asp)
c.*728A>T (n.*728A>T)
c.747A>T (p.Glu249Asp)
Xg.154969488T>CCA519367580F8c.852A>G (p.Glu284=)
c.*728A>G (n.*728A>G)
c.747A>G (p.Glu249=)
dbSNP gnomAD v2 gnomAD v4
Xg.154969488T>GCA414918210F8c.852A>C (p.Glu284Asp)
c.*728A>C (n.*728A>C)
c.747A>C (p.Glu249Asp)
gnomAD v4
Xg.154969488T=CA2466849041F8c.852A= (p.Glu284=)
c.*728A= (n.*728A=)
c.747A= (p.Glu249=)
Xg.154969489T>ACA414918212F8c.851A>T (p.Glu284Val)
c.*727A>T (n.*727A>T)
c.746A>T (p.Glu249Val)
Xg.154969489T>CCA414918213F8c.851A>G (p.Glu284Gly)
c.*727A>G (n.*727A>G)
c.746A>G (p.Glu249Gly)
gnomAD v4
Xg.154969489T>GCA414918215F8c.851A>C (p.Glu284Ala)
c.*727A>C (n.*727A>C)
c.746A>C (p.Glu249Ala)
Xg.154969490C>ACA414918220F8c.850G>T (p.Glu284Ter)
c.*726G>T (n.*726G>T)
c.745G>T (p.Glu249Ter)
Xg.154969490C>GCA414918221F8c.850G>C (p.Glu284Gln)
c.*726G>C (n.*726G>C)
c.745G>C (p.Glu249Gln)
Xg.154969490C>TCA414918223F8c.850G>A (p.Glu284Lys)
c.*726G>A (n.*726G>A)
c.745G>A (p.Glu249Lys)
Xg.154969490_154969491delinsCACA2466849042F8c.849_850delinsTG (p.Pro283=)
c.*725_*726delinsTG (n.*725_*726delinsTG)
c.744_745delinsTG (p.Pro248=)
Xg.154969491delCA255075F8c.849del (p.Glu284LysfsTer14)
c.*725del (n.*725del)
c.744del (p.Glu249LysfsTer14)
ClinVar dbSNP
Xg.154969491A>CCA519367595F8c.849T>G (p.Pro283=)
c.*725T>G (n.*725T>G)
c.744T>G (p.Pro248=)
Xg.154969491A>GCA519367593F8c.849T>C (p.Pro283=)
c.*725T>C (n.*725T>C)
c.744T>C (p.Pro248=)
Xg.154969491A>TCA519367590F8c.849T>A (p.Pro283=)
c.*725T>A (n.*725T>A)
c.744T>A (p.Pro248=)
Xg.154969492G>ACA414918228F8c.848C>T (p.Pro283Leu)
c.*724C>T (n.*724C>T)
c.743C>T (p.Pro248Leu)
Xg.154969492G>CCA414918230F8c.848C>G (p.Pro283Arg)
c.*724C>G (n.*724C>G)
c.743C>G (p.Pro248Arg)
Xg.154969492G>TCA414918232F8c.848C>A (p.Pro283His)
c.*724C>A (n.*724C>A)
c.743C>A (p.Pro248His)
Xg.154969493G>ACA414918238F8c.847C>T (p.Pro283Ser)
c.*723C>T (n.*723C>T)
c.742C>T (p.Pro248Ser)
Xg.154969493G>CCA414918236F8c.847C>G (p.Pro283Ala)
c.*723C>G (n.*723C>G)
c.742C>G (p.Pro248Ala)
Xg.154969493G>TCA414918234F8c.847C>A (p.Pro283Thr)
c.*723C>A (n.*723C>A)
c.742C>A (p.Pro248Thr)
gnomAD v4
Xg.154969494A>CCA519367608F8c.846T>G (p.Thr282=)
c.*722T>G (n.*722T>G)
c.741T>G (p.Thr247=)
Xg.154969494A>GCA519367610F8c.846T>C (p.Thr282=)
c.*722T>C (n.*722T>C)
c.741T>C (p.Thr247=)
Xg.154969494A>TCA519367612F8c.846T>A (p.Thr282=)
c.*722T>A (n.*722T>A)
c.741T>A (p.Thr247=)
Xg.154969495G>ACA414918239F8c.845C>T (p.Thr282Ile)
c.*721C>T (n.*721C>T)
c.740C>T (p.Thr247Ile)
dbSNP
Xg.154969495G>CCA414918240F8c.845C>G (p.Thr282Ser)
c.*721C>G (n.*721C>G)
c.740C>G (p.Thr247Ser)
Xg.154969495G=CA2466849043F8c.845C= (p.Thr282=)
c.*721C= (n.*721C=)
c.740C= (p.Thr247=)
Xg.154969495G>TCA414918242F8c.845C>A (p.Thr282Asn)
c.*721C>A (n.*721C>A)
c.740C>A (p.Thr247Asn)
Xg.154969496T>ACA414918243F8c.844A>T (p.Thr282Ser)
c.*720A>T (n.*720A>T)
c.739A>T (p.Thr247Ser)
Xg.154969496T>CCA414918245F8c.844A>G (p.Thr282Ala)
c.*720A>G (n.*720A>G)
c.739A>G (p.Thr247Ala)
dbSNP
Xg.154969496T>GCA414918247F8c.844A>C (p.Thr282Pro)
c.*720A>C (n.*720A>C)
c.739A>C (p.Thr247Pro)
Xg.154969496T=CA2466849044F8c.844A= (p.Thr282=)
c.*720A= (n.*720A=)
c.739A= (p.Thr247=)
Xg.154969497G>ACA519367620F8c.843C>T (p.Thr281=)
c.*719C>T (n.*719C>T)
c.738C>T (p.Thr246=)
gnomAD v4
Xg.154969497G>CCA519367624F8c.843C>G (p.Thr281=)
c.*719C>G (n.*719C>G)
c.738C>G (p.Thr246=)
Xg.154969497G>TCA519367622F8c.843C>A (p.Thr281=)
c.*719C>A (n.*719C>A)
c.738C>A (p.Thr246=)
Xg.154969498delCA2695237479F8c.843del (p.Thr282LeufsTer16)
c.*719del (n.*719del)
c.738del (p.Thr247LeufsTer16)
Xg.154969498G>ACA414918249F8c.842C>T (p.Thr281Ile)
c.*718C>T (n.*718C>T)
c.737C>T (p.Thr246Ile)
ClinVar
Xg.154969498G>CCA414918251F8c.842C>G (p.Thr281Ser)
c.*718C>G (n.*718C>G)
c.737C>G (p.Thr246Ser)
Xg.154969498G=CA2466849045F8c.842C= (p.Thr281=)
c.*718C= (n.*718C=)
c.737C= (p.Thr246=)
Xg.154969498G>TCA414918253F8c.842C>A (p.Thr281Asn)
c.*718C>A (n.*718C>A)
c.737C>A (p.Thr246Asn)
dbSNP gnomAD v4
Xg.154969499T>ACA414918256F8c.841A>T (p.Thr281Ser)
c.*717A>T (n.*717A>T)
c.736A>T (p.Thr246Ser)
Xg.154969499T>CCA10568530F8c.841A>G (p.Thr281Ala)
c.*717A>G (n.*717A>G)
c.736A>G (p.Thr246Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154969499T>GCA414918258F8c.841A>C (p.Thr281Pro)
c.*717A>C (n.*717A>C)
c.736A>C (p.Thr246Pro)
Xg.154969499T=CA2466849046F8c.841A= (p.Thr281=)
c.*717A= (n.*717A=)
c.736A= (p.Thr246=)
Xg.154969500_154969530delCA2695237480F8c.811_841del (p.Ser271ProfsTer17)
c.*687_*717del (n.*687_*717del)
c.706_736del (p.Ser236ProfsTer17)
Xg.154969500G>ACA519367632F8c.840C>T (p.Gly280=)
c.*716C>T (n.*716C>T)
c.735C>T (p.Gly245=)
Xg.154969500G>CCA519367631F8c.840C>G (p.Gly280=)
c.*716C>G (n.*716C>G)
c.735C>G (p.Gly245=)
Xg.154969500G>TCA519367628F8c.840C>A (p.Gly280=)
c.*716C>A (n.*716C>A)
c.735C>A (p.Gly245=)
gnomAD v4
Xg.154969501C>ACA414918262F8c.839G>T (p.Gly280Val)
c.*715G>T (n.*715G>T)
c.734G>T (p.Gly245Val)
dbSNP
Xg.154969501C=CA2466849047F8c.839G= (p.Gly280=)
c.*715G= (n.*715G=)
c.734G= (p.Gly245=)
Xg.154969501C>GCA414918264F8c.839G>C (p.Gly280Ala)
c.*715G>C (n.*715G>C)
c.734G>C (p.Gly245Ala)
Xg.154969501C>TCA414918260F8c.839G>A (p.Gly280Asp)
c.*715G>A (n.*715G>A)
c.734G>A (p.Gly245Asp)
ClinVar
Xg.154969502C>ACA414918268F8c.838G>T (p.Gly280Cys)
c.*714G>T (n.*714G>T)
c.733G>T (p.Gly245Cys)
Xg.154969502C=CA2466849048F8c.838G= (p.Gly280=)
c.*714G= (n.*714G=)
c.733G= (p.Gly245=)
Xg.154969502C>GCA414918266F8c.838G>C (p.Gly280Arg)
c.*714G>C (n.*714G>C)
c.733G>C (p.Gly245Arg)
Xg.154969502C>TCA414918269F8c.838G>A (p.Gly280Ser)
c.*714G>A (n.*714G>A)
c.733G>A (p.Gly245Ser)
dbSNP
Xg.154969503C>ACA414918272F8c.837G>T (p.Met279Ile)
c.*713G>T (n.*713G>T)
c.732G>T (p.Met244Ile)
Xg.154969503C>GCA414918274F8c.837G>C (p.Met279Ile)
c.*713G>C (n.*713G>C)
c.732G>C (p.Met244Ile)
Xg.154969503C>TCA414918275F8c.837G>A (p.Met279Ile)
c.*713G>A (n.*713G>A)
c.732G>A (p.Met244Ile)
Xg.154969504A>CCA414918277F8c.836T>G (p.Met279Arg)
c.*712T>G (n.*712T>G)
c.731T>G (p.Met244Arg)
ClinVar
Xg.154969504A>GCA414918279F8c.836T>C (p.Met279Thr)
c.*712T>C (n.*712T>C)
c.731T>C (p.Met244Thr)
gnomAD v4
Xg.154969504A>TCA414918280F8c.836T>A (p.Met279Lys)
c.*712T>A (n.*712T>A)
c.731T>A (p.Met244Lys)
Xg.154969505T>ACA414918283F8c.835A>T (p.Met279Leu)
c.*711A>T (n.*711A>T)
c.730A>T (p.Met244Leu)
Xg.154969505T>CCA414918284F8c.835A>G (p.Met279Val)
c.*711A>G (n.*711A>G)
c.730A>G (p.Met244Val)
Xg.154969505T>GCA414918286F8c.835A>C (p.Met279Leu)
c.*711A>C (n.*711A>C)
c.730A>C (p.Met244Leu)
Xg.154969506T>ACA519367653F8c.834A>T (p.Gly278=)
c.*710A>T (n.*710A>T)
c.729A>T (p.Gly243=)
Xg.154969506T>CCA519367655F8c.834A>G (p.Gly278=)
c.*710A>G (n.*710A>G)
c.729A>G (p.Gly243=)
Xg.154969506T>GCA519367657F8c.834A>C (p.Gly278=)
c.*710A>C (n.*710A>C)
c.729A>C (p.Gly243=)
Xg.154969507C>ACA414918288F8c.833G>T (p.Gly278Val)
c.*709G>T (n.*709G>T)
c.728G>T (p.Gly243Val)
Xg.154969507C>GCA414918290F8c.833G>C (p.Gly278Ala)
c.*709G>C (n.*709G>C)
c.728G>C (p.Gly243Ala)
Xg.154969507C>TCA414918291F8c.833G>A (p.Gly278Glu)
c.*709G>A (n.*709G>A)
c.728G>A (p.Gly243Glu)
Xg.154969508C>ACA414918294F8c.832G>T (p.Gly278Ter)
c.*708G>T (n.*708G>T)
c.727G>T (p.Gly243Ter)
Xg.154969508C=CA2466849049F8c.832G= (p.Gly278=)
c.*708G= (n.*708G=)
c.727G= (p.Gly243=)
Xg.154969508C>GCA414918292F8c.832G>C (p.Gly278Arg)
c.*708G>C (n.*708G>C)
c.727G>C (p.Gly243Arg)
Xg.154969508C>TCA255074F8c.832G>A (p.Gly278Arg)
c.*708G>A (n.*708G>A)
c.727G>A (p.Gly243Arg)
ClinVar dbSNP
Xg.154969509A>CCA414918296F8c.831T>G (p.Ile277Met)
c.*707T>G (n.*707T>G)
c.726T>G (p.Ile242Met)
Xg.154969509A>GCA519367671F8c.831T>C (p.Ile277=)
c.*707T>C (n.*707T>C)
c.726T>C (p.Ile242=)
Xg.154969509A>TCA519367673F8c.831T>A (p.Ile277=)
c.*707T>A (n.*707T>A)
c.726T>A (p.Ile242=)
Xg.154969510A>CCA414918299F8c.830T>G (p.Ile277Ser)
c.*706T>G (n.*706T>G)
c.725T>G (p.Ile242Ser)
Xg.154969510A>GCA414918300F8c.830T>C (p.Ile277Thr)
c.*706T>C (n.*706T>C)
c.725T>C (p.Ile242Thr)
Xg.154969510A>TCA414918302F8c.830T>A (p.Ile277Asn)
c.*706T>A (n.*706T>A)
c.725T>A (p.Ile242Asn)
Xg.154969511T>ACA414918305F8c.829A>T (p.Ile277Phe)
c.*705A>T (n.*705A>T)
c.724A>T (p.Ile242Phe)
Xg.154969511T>CCA414918306F8c.829A>G (p.Ile277Val)
c.*705A>G (n.*705A>G)
c.724A>G (p.Ile242Val)
Xg.154969511T>GCA414918308F8c.829A>C (p.Ile277Leu)
c.*705A>C (n.*705A>C)
c.724A>C (p.Ile242Leu)
Xg.154969512C>ACA519367687F8c.828G>T (p.Val276=)
c.*704G>T (n.*704G>T)
c.723G>T (p.Val241=)
Xg.154969512C>GCA519367688F8c.828G>C (p.Val276=)
c.*704G>C (n.*704G>C)
c.723G>C (p.Val241=)
Xg.154969512C>TCA519367690F8c.828G>A (p.Val276=)
c.*704G>A (n.*704G>A)
c.723G>A (p.Val241=)
Xg.154969513A>CCA414918310F8c.827T>G (p.Val276Gly)
c.*703T>G (n.*703T>G)
c.722T>G (p.Val241Gly)
Xg.154969513A>GCA414918312F8c.827T>C (p.Val276Ala)
c.*703T>C (n.*703T>C)
c.722T>C (p.Val241Ala)
Xg.154969513A>TCA414918313F8c.827T>A (p.Val276Glu)
c.*703T>A (n.*703T>A)
c.722T>A (p.Val241Glu)
Xg.154969514C>ACA414918318F8c.826G>T (p.Val276Leu)
c.*702G>T (n.*702G>T)
c.721G>T (p.Val241Leu)
Xg.154969514C>GCA414918317F8c.826G>C (p.Val276Leu)
c.*702G>C (n.*702G>C)
c.721G>C (p.Val241Leu)
Xg.154969514C>TCA414918315F8c.826G>A (p.Val276Met)
c.*702G>A (n.*702G>A)
c.721G>A (p.Val241Met)
Xg.154969515A>CCA414918320F8c.825T>G (p.His275Gln)
c.*701T>G (n.*701T>G)
c.720T>G (p.His240Gln)
Xg.154969515A>GCA519367698F8c.825T>C (p.His275=)
c.*701T>C (n.*701T>C)
c.720T>C (p.His240=)
Xg.154969515A>TCA414918321F8c.825T>A (p.His275Gln)
c.*701T>A (n.*701T>A)
c.720T>A (p.His240Gln)
Xg.154969516T>ACA414918323F8c.824A>T (p.His275Leu)
c.*700A>T (n.*700A>T)
c.719A>T (p.His240Leu)
Xg.154969516T>CCA414918325F8c.824A>G (p.His275Arg)
c.*700A>G (n.*700A>G)
c.719A>G (p.His240Arg)
dbSNP
Xg.154969516T>GCA414918327F8c.824A>C (p.His275Pro)
c.*700A>C (n.*700A>C)
c.719A>C (p.His240Pro)
Xg.154969516T=CA2466849050F8c.824A= (p.His275=)
c.*700A= (n.*700A=)
c.719A= (p.His240=)
Xg.154969517G>ACA414918328F8c.823C>T (p.His275Tyr)
c.*699C>T (n.*699C>T)
c.718C>T (p.His240Tyr)
Xg.154969517G>CCA414918330F8c.823C>G (p.His275Asp)
c.*699C>G (n.*699C>G)
c.718C>G (p.His240Asp)
Xg.154969517G>TCA414918332F8c.823C>A (p.His275Asn)
c.*699C>A (n.*699C>A)
c.718C>A (p.His240Asn)
Xg.154969518C>ACA337337669F8c.822G>T (p.Trp274Cys)
c.*698G>T (n.*698G>T)
c.717G>T (p.Trp239Cys)
dbSNP
Xg.154969518C=CA2466849051F8c.822G= (p.Trp274=)
c.*698G= (n.*698G=)
c.717G= (p.Trp239=)
Xg.154969518C>GCA414918336F8c.822G>C (p.Trp274Cys)
c.*698G>C (n.*698G>C)
c.717G>C (p.Trp239Cys)
Xg.154969518C>TCA255072F8c.822G>A (p.Trp274Ter)
c.*698G>A (n.*698G>A)
c.717G>A (p.Trp239Ter)
ClinVar dbSNP
Xg.154969519C>ACA414918345F8c.821G>T (p.Trp274Leu)
c.*697G>T (n.*697G>T)
c.716G>T (p.Trp239Leu)
Xg.154969519C=CA2466849052F8c.821G= (p.Trp274=)
c.*697G= (n.*697G=)
c.716G= (p.Trp239=)
Xg.154969519C>GCA414918343F8c.821G>C (p.Trp274Ser)
c.*697G>C (n.*697G>C)
c.716G>C (p.Trp239Ser)
Xg.154969519C>TCA414918342F8c.821G>A (p.Trp274Ter)
c.*697G>A (n.*697G>A)
c.716G>A (p.Trp239Ter)
dbSNP
Xg.154969520A>CCA414918348F8c.820T>G (p.Trp274Gly)
c.*696T>G (n.*696T>G)
c.715T>G (p.Trp239Gly)
Xg.154969520A>GCA414918349F8c.820T>C (p.Trp274Arg)
c.*696T>C (n.*696T>C)
c.715T>C (p.Trp239Arg)
Xg.154969520A>TCA414918351F8c.820T>A (p.Trp274Arg)
c.*696T>A (n.*696T>A)
c.715T>A (p.Trp239Arg)
Xg.154969521A=CA2466849053F8c.819T= (p.Tyr273=)
c.*695T= (n.*695T=)
c.714T= (p.Tyr238=)
Xg.154969521A>CCA414918353F8c.819T>G (p.Tyr273Ter)
c.*695T>G (n.*695T>G)
c.714T>G (p.Tyr238Ter)
Xg.154969521A>GCA519367724F8c.819T>C (p.Tyr273=)
c.*695T>C (n.*695T>C)
c.714T>C (p.Tyr238=)
dbSNP gnomAD v4
Xg.154969521A>TCA414918355F8c.819T>A (p.Tyr273Ter)
c.*695T>A (n.*695T>A)
c.714T>A (p.Tyr238Ter)
Xg.154969522T>ACA414918357F8c.818A>T (p.Tyr273Phe)
c.*694A>T (n.*694A>T)
c.713A>T (p.Tyr238Phe)
Xg.154969522T>CCA414918359F8c.818A>G (p.Tyr273Cys)
c.*694A>G (n.*694A>G)
c.713A>G (p.Tyr238Cys)
dbSNP gnomAD v4
Xg.154969522T>GCA414918361F8c.818A>C (p.Tyr273Ser)
c.*694A>C (n.*694A>C)
c.713A>C (p.Tyr238Ser)
Xg.154969522T=CA2466849054F8c.818A= (p.Tyr273=)
c.*694A= (n.*694A=)
c.713A= (p.Tyr238=)
Xg.154969523A>CCA414918364F8c.817T>G (p.Tyr273Asp)
c.*693T>G (n.*693T>G)
c.712T>G (p.Tyr238Asp)
Xg.154969523A>GCA414918365F8c.817T>C (p.Tyr273His)
c.*693T>C (n.*693T>C)
c.712T>C (p.Tyr238His)
Xg.154969523A>TCA414918367F8c.817T>A (p.Tyr273Asn)
c.*693T>A (n.*693T>A)
c.712T>A (p.Tyr238Asn)
Xg.154969524G>ACA519367735F8c.816C>T (p.Val272=)
c.*692C>T (n.*692C>T)
c.711C>T (p.Val237=)
Xg.154969524G>CCA519367738F8c.816C>G (p.Val272=)
c.*692C>G (n.*692C>G)
c.711C>G (p.Val237=)
Xg.154969524G>TCA519367737F8c.816C>A (p.Val272=)
c.*692C>A (n.*692C>A)
c.711C>A (p.Val237=)
Xg.154969525A=CA2466849055F8c.815T= (p.Val272=)
c.*691T= (n.*691T=)
c.710T= (p.Val237=)
Xg.154969525A>CCA414918373F8c.815T>G (p.Val272Gly)
c.*691T>G (n.*691T>G)
c.710T>G (p.Val237Gly)
Xg.154969525A>GCA414918371F8c.815T>C (p.Val272Ala)
c.*691T>C (n.*691T>C)
c.710T>C (p.Val237Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154969525A>TCA414918369F8c.815T>A (p.Val272Asp)
c.*691T>A (n.*691T>A)
c.710T>A (p.Val237Asp)
Xg.154969526C>ACA414918376F8c.814G>T (p.Val272Phe)
c.*690G>T (n.*690G>T)
c.709G>T (p.Val237Phe)
Xg.154969526C>GCA414918380F8c.814G>C (p.Val272Leu)
c.*690G>C (n.*690G>C)
c.709G>C (p.Val237Leu)
Xg.154969526C>TCA414918378F8c.814G>A (p.Val272Ile)
c.*690G>A (n.*690G>A)
c.709G>A (p.Val237Ile)
Xg.154969529_154969536delCA2695237483F8c.807_814del (p.Arg269SerfsTer13)
c.*683_*690del (n.*683_*690del)
c.702_709del (p.Arg234SerfsTer13)
Xg.154969527T>ACA519367746F8c.813A>T (p.Ser271=)
c.*689A>T (n.*689A>T)
c.708A>T (p.Ser236=)
Xg.154969527T>CCA519367751F8c.813A>G (p.Ser271=)
c.*689A>G (n.*689A>G)
c.708A>G (p.Ser236=)
Xg.154969527T>GCA519367754F8c.813A>C (p.Ser271=)
c.*689A>C (n.*689A>C)
c.708A>C (p.Ser236=)
Xg.154969528G>ACA414918381F8c.812C>T (p.Ser271Leu)
c.*688C>T (n.*688C>T)
c.707C>T (p.Ser236Leu)
Xg.154969528G>CCA414918383F8c.812C>G (p.Ser271Ter)
c.*688C>G (n.*688C>G)
c.707C>G (p.Ser236Ter)
Xg.154969528G>TCA414918385F8c.812C>A (p.Ser271Ter)
c.*688C>A (n.*688C>A)
c.707C>A (p.Ser236Ter)
Xg.154969529A>CCA414918387F8c.811T>G (p.Ser271Ala)
c.*687T>G (n.*687T>G)
c.706T>G (p.Ser236Ala)
Xg.154969529A>GCA414918389F8c.811T>C (p.Ser271Pro)
c.*687T>C (n.*687T>C)
c.706T>C (p.Ser236Pro)
Xg.154969529A>TCA414918391F8c.811T>A (p.Ser271Thr)
c.*687T>A (n.*687T>A)
c.706T>A (p.Ser236Thr)
Xg.154969530T>ACA414918393F8c.810A>T (p.Lys270Asn)
c.*686A>T (n.*686A>T)
c.705A>T (p.Lys235Asn)
Xg.154969530T>CCA337337693F8c.810A>G (p.Lys270=)
c.*686A>G (n.*686A>G)
c.705A>G (p.Lys235=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154969530T>GCA414918395F8c.810A>C (p.Lys270Asn)
c.*686A>C (n.*686A>C)
c.705A>C (p.Lys235Asn)
Xg.154969530T=CA2466849056F8c.810A= (p.Lys270=)
c.*686A= (n.*686A=)
c.705A= (p.Lys235=)
Xg.154969531T>ACA414918397F8c.809A>T (p.Lys270Ile)
c.*685A>T (n.*685A>T)
c.704A>T (p.Lys235Ile)
Xg.154969531T>CCA414918398F8c.809A>G (p.Lys270Arg)
c.*685A>G (n.*685A>G)
c.704A>G (p.Lys235Arg)
Xg.154969531T>GCA414918400F8c.809A>C (p.Lys270Thr)
c.*685A>C (n.*685A>C)
c.704A>C (p.Lys235Thr)
Xg.154969532T>ACA414918402F8c.808A>T (p.Lys270Ter)
c.*684A>T (n.*684A>T)
c.703A>T (p.Lys235Ter)
Xg.154969532T>CCA414918405F8c.808A>G (p.Lys270Glu)
c.*684A>G (n.*684A>G)
c.703A>G (p.Lys235Glu)
Xg.154969532T>GCA414918404F8c.808A>C (p.Lys270Gln)
c.*684A>C (n.*684A>C)
c.703A>C (p.Lys235Gln)
Xg.154969533C>ACA414918406F8c.807G>T (p.Arg269Ser)
c.*683G>T (n.*683G>T)
c.702G>T (p.Arg234Ser)
Xg.154969533C>GCA414918408F8c.807G>C (p.Arg269Ser)
c.*683G>C (n.*683G>C)
c.702G>C (p.Arg234Ser)
Xg.154969533C>TCA519367781F8c.807G>A (p.Arg269=)
c.*683G>A (n.*683G>A)
c.702G>A (p.Arg234=)
gnomAD v4
Xg.154969534C>ACA414918410F8c.806G>T (p.Arg269Met)
c.*682G>T (n.*682G>T)
c.701G>T (p.Arg234Met)
Xg.154969534C>GCA414918412F8c.806G>C (p.Arg269Thr)
c.*682G>C (n.*682G>C)
c.701G>C (p.Arg234Thr)
Xg.154969534C>TCA414918413F8c.806G>A (p.Arg269Lys)
c.*682G>A (n.*682G>A)
c.701G>A (p.Arg234Lys)
COSMIC COSMIC
Xg.154969535T>ACA414918415F8c.805A>T (p.Arg269Trp)
c.*681A>T (n.*681A>T)
c.700A>T (p.Arg234Trp)
Xg.154969535T>CCA414918416F8c.805A>G (p.Arg269Gly)
c.*681A>G (n.*681A>G)
c.700A>G (p.Arg234Gly)
Xg.154969535T>GCA519367785F8c.805A>C (p.Arg269=)
c.*681A>C (n.*681A>C)
c.700A>C (p.Arg234=)
Xg.154969536G>ACA519367787F8c.804C>T (p.His268=)
c.*680C>T (n.*680C>T)
c.699C>T (p.His233=)
gnomAD v4
Xg.154969536G>CCA337337710F8c.804C>G (p.His268Gln)
c.*680C>G (n.*680C>G)
c.699C>G (p.His233Gln)
dbSNP gnomAD v2
Xg.154969536G=CA2466849057F8c.804C= (p.His268=)
c.*680C= (n.*680C=)
c.699C= (p.His233=)
Xg.154969536G>TCA414918419F8c.804C>A (p.His268Gln)
c.*680C>A (n.*680C>A)
c.699C>A (p.His233Gln)
dbSNP
Xg.154969537T>ACA414918423F8c.803A>T (p.His268Leu)
c.*679A>T (n.*679A>T)
c.698A>T (p.His233Leu)
Xg.154969537T>CCA414918424F8c.803A>G (p.His268Arg)
c.*679A>G (n.*679A>G)
c.698A>G (p.His233Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154969537T>GCA414918421F8c.803A>C (p.His268Pro)
c.*679A>C (n.*679A>C)
c.698A>C (p.His233Pro)
Xg.154969537T=CA2466849058F8c.803A= (p.His268=)
c.*679A= (n.*679A=)
c.698A= (p.His233=)
Xg.154969538G>ACA414918427F8c.802C>T (p.His268Tyr)
c.*678C>T (n.*678C>T)
c.697C>T (p.His233Tyr)
Xg.154969538G>CCA414918429F8c.802C>G (p.His268Asp)
c.*678C>G (n.*678C>G)
c.697C>G (p.His233Asp)
Xg.154969538G>TCA414918431F8c.802C>A (p.His268Asn)
c.*678C>A (n.*678C>A)
c.697C>A (p.His233Asn)
Xg.154969539G>ACA519367797F8c.801C>T (p.Cys267=)
c.*677C>T (n.*677C>T)
c.696C>T (p.Cys232=)
gnomAD v4
Xg.154969539G>CCA414918433F8c.801C>G (p.Cys267Trp)
c.*677C>G (n.*677C>G)
c.696C>G (p.Cys232Trp)
Xg.154969539G>TCA414918434F8c.801C>A (p.Cys267Ter)
c.*677C>A (n.*677C>A)
c.696C>A (p.Cys232Ter)
Xg.154969540C>ACA414918437F8c.800G>T (p.Cys267Phe)
c.*676G>T (n.*676G>T)
c.695G>T (p.Cys232Phe)
Xg.154969540C=CA2466849059F8c.800G= (p.Cys267=)
c.*676G= (n.*676G=)
c.695G= (p.Cys232=)
Xg.154969540C>GCA414918441F8c.800G>C (p.Cys267Ser)
c.*676G>C (n.*676G>C)
c.695G>C (p.Cys232Ser)
Xg.154969540C>TCA414918442F8c.800G>A (p.Cys267Tyr)
c.*676G>A (n.*676G>A)
c.695G>A (p.Cys232Tyr)
dbSNP
Xg.154969541A>CCA414918444F8c.799T>G (p.Cys267Gly)
c.*675T>G (n.*675T>G)
c.694T>G (p.Cys232Gly)
Xg.154969541A>GCA414918446F8c.799T>C (p.Cys267Arg)
c.*675T>C (n.*675T>C)
c.694T>C (p.Cys232Arg)
Xg.154969541A>TCA414918450F8c.799T>A (p.Cys267Ser)
c.*675T>A (n.*675T>A)
c.694T>A (p.Cys232Ser)
Xg.154969542T>ACA519367806F8c.798A>T (p.Gly266=)
c.*674A>T (n.*674A>T)
c.693A>T (p.Gly231=)
Xg.154969542T>CCA519367808F8c.798A>G (p.Gly266=)
c.*674A>G (n.*674A>G)
c.693A>G (p.Gly231=)
Xg.154969542T>GCA519367809F8c.798A>C (p.Gly266=)
c.*674A>C (n.*674A>C)
c.693A>C (p.Gly231=)
Xg.154969543C>ACA414918452F8c.797G>T (p.Gly266Val)
c.*673G>T (n.*673G>T)
c.692G>T (p.Gly231Val)
Xg.154969543C=CA2466849060F8c.797G= (p.Gly266=)
c.*673G= (n.*673G=)
c.692G= (p.Gly231=)
Xg.154969543C>GCA414918454F8c.797G>C (p.Gly266Ala)
c.*673G>C (n.*673G>C)
c.692G>C (p.Gly231Ala)
COSMIC COSMIC
Xg.154969543C>TCA255071F8c.797G>A (p.Gly266Glu)
c.*673G>A (n.*673G>A)
c.692G>A (p.Gly231Glu)
ClinVar dbSNP
Xg.154969544C>ACA414918455F8c.796G>T (p.Gly266Ter)
c.*672G>T (n.*672G>T)
c.691G>T (p.Gly231Ter)
Xg.154969544C>GCA414918457F8c.796G>C (p.Gly266Arg)
c.*672G>C (n.*672G>C)
c.691G>C (p.Gly231Arg)
Xg.154969544C>TCA414918459F8c.796G>A (p.Gly266Arg)
c.*672G>A (n.*672G>A)
c.691G>A (p.Gly231Arg)

Number of alleles fetched