Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.153870409_153870416delCA2695236875L1CAMc.778_785del (p.Leu260GlyfsTer?)
c.763_770del (p.Leu255GlyfsTer?)
Xg.153870416A>CCA415133079L1CAMc.778T>G (p.Leu260Val)
c.763T>G (p.Leu255Val)
Xg.153870416A>GCA519208868L1CAMc.778T>C (p.Leu260=)
c.763T>C (p.Leu255=)
Xg.153870416A>TCA415133082L1CAMc.778T>A (p.Leu260Met)
c.763T>A (p.Leu255Met)
Xg.153870417T>ACA519208870L1CAMc.777A>T (p.Pro259=)
c.762A>T (p.Pro254=)
Xg.153870417T>CCA519208871L1CAMc.777A>G (p.Pro259=)
c.762A>G (p.Pro254=)
 ClinVar
Xg.153870417T>GCA519208872L1CAMc.777A>C (p.Pro259=)
c.762A>C (p.Pro254=)
Xg.153870418G>ACA415133085L1CAMc.776C>T (p.Pro259Leu)
c.761C>T (p.Pro254Leu)
Xg.153870418G>CCA415133090L1CAMc.776C>G (p.Pro259Arg)
c.761C>G (p.Pro254Arg)
Xg.153870418G>TCA415133087L1CAMc.776C>A (p.Pro259Gln)
c.761C>A (p.Pro254Gln)
Xg.153870419delCA2579733003L1CAMc.776del (p.Pro259HisfsTer?)
c.761del (p.Pro254HisfsTer?)
Xg.153870419G>ACA415133094L1CAMc.775C>T (p.Pro259Ser)
c.760C>T (p.Pro254Ser)
Xg.153870419G>CCA415133097L1CAMc.775C>G (p.Pro259Ala)
c.760C>G (p.Pro254Ala)
Xg.153870419G>TCA415133095L1CAMc.775C>A (p.Pro259Thr)
c.760C>A (p.Pro254Thr)
 gnomAD v4
Xg.153870419_153870476delinsCTGTCAATGTCA2499226460L1CAMc.718_775delinsACATTGACAG (p.Pro240_Pro259delinsThrLeuThrAla)
c.703_760delinsACATTGACAG (p.Pro235_Pro254delinsThrLeuThrAla)
 ClinVar dbSNP
Xg.153870420C>ACA415133100L1CAMc.774G>T (p.Gln258His)
c.759G>T (p.Gln253His)
Xg.153870420C=CA2466507154L1CAMc.774G= (p.Gln258=)
c.759G= (p.Gln253=)
Xg.153870420C>GCA415133102L1CAMc.774G>C (p.Gln258His)
c.759G>C (p.Gln253His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153870420C>TCA337263561L1CAMc.774G>A (p.Gln258=)
c.759G>A (p.Gln253=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.153870421T>ACA415133104L1CAMc.773A>T (p.Gln258Leu)
c.758A>T (p.Gln253Leu)
Xg.153870421T>CCA415133107L1CAMc.773A>G (p.Gln258Arg)
c.758A>G (p.Gln253Arg)
Xg.153870421T>GCA415133110L1CAMc.773A>C (p.Gln258Pro)
c.758A>C (p.Gln253Pro)
Xg.153870422G>ACA415133113L1CAMc.772C>T (p.Gln258Ter)
c.757C>T (p.Gln253Ter)
Xg.153870422G>CCA415133114L1CAMc.772C>G (p.Gln258Glu)
c.757C>G (p.Gln253Glu)
 dbSNP
Xg.153870422G=CA2466507155L1CAMc.772C= (p.Gln258=)
c.757C= (p.Gln253=)
Xg.153870422G>TCA415133116L1CAMc.772C>A (p.Gln258Lys)
c.757C>A (p.Gln253Lys)
Xg.153870423C>ACA10554508L1CAMc.771G>T (p.Gly257=)
c.756G>T (p.Gly252=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870423C=CA2466507156L1CAMc.771G= (p.Gly257=)
c.756G= (p.Gly252=)
Xg.153870423C>GCA519208906L1CAMc.771G>C (p.Gly257=)
c.756G>C (p.Gly252=)
Xg.153870423C>TCA519208911L1CAMc.771G>A (p.Gly257=)
c.756G>A (p.Gly252=)
 dbSNP gnomAD v4
Xg.153870424C>ACA415133127L1CAMc.770G>T (p.Gly257Val)
c.755G>T (p.Gly252Val)
 COSMIC
Xg.153870424C>GCA415133124L1CAMc.770G>C (p.Gly257Ala)
c.755G>C (p.Gly252Ala)
Xg.153870424C>TCA415133122L1CAMc.770G>A (p.Gly257Glu)
c.755G>A (p.Gly252Glu)
Xg.153870425C>ACA415133129L1CAMc.769G>T (p.Gly257Trp)
c.754G>T (p.Gly252Trp)
Xg.153870425C>GCA415133132L1CAMc.769G>C (p.Gly257Arg)
c.754G>C (p.Gly252Arg)
Xg.153870425C>TCA415133135L1CAMc.769G>A (p.Gly257Arg)
c.754G>A (p.Gly252Arg)
 ClinVar dbSNP gnomAD v4
Xg.153870426C>ACA415133136L1CAMc.768G>T (p.Gln256His)
c.753G>T (p.Gln251His)
Xg.153870426C>GCA415133138L1CAMc.768G>C (p.Gln256His)
c.753G>C (p.Gln251His)
Xg.153870426C>TCA519208931L1CAMc.768G>A (p.Gln256=)
c.753G>A (p.Gln251=)
Xg.153870426_153870427delCA2579733004L1CAMc.767_768del (p.Gln256ArgfsTer?)
c.752_753del (p.Gln251ArgfsTer?)
Xg.153870427T>ACA415133140L1CAMc.767A>T (p.Gln256Leu)
c.752A>T (p.Gln251Leu)
Xg.153870427T>CCA415133142L1CAMc.767A>G (p.Gln256Arg)
c.752A>G (p.Gln251Arg)
Xg.153870427T>GCA415133144L1CAMc.767A>C (p.Gln256Pro)
c.752A>C (p.Gln251Pro)
Xg.153870428G>ACA415133148L1CAMc.766C>T (p.Gln256Ter)
c.751C>T (p.Gln251Ter)
Xg.153870428G>CCA415133150L1CAMc.766C>G (p.Gln256Glu)
c.751C>G (p.Gln251Glu)
Xg.153870428G>TCA415133151L1CAMc.766C>A (p.Gln256Lys)
c.751C>A (p.Gln251Lys)
Xg.153870429delCA2579733005L1CAMc.765del (p.Leu255PhefsTer?)
c.750del (p.Leu250PhefsTer?)
Xg.153870429C>ACA415133164L1CAMc.765G>T (p.Leu255Phe)
c.750G>T (p.Leu250Phe)
Xg.153870429C=CA2466507157L1CAMc.765G= (p.Leu255=)
c.750G= (p.Leu250=)
Xg.153870429C>GCA415133165L1CAMc.765G>C (p.Leu255Phe)
c.750G>C (p.Leu250Phe)
Xg.153870429C>TCA10554509L1CAMc.765G>A (p.Leu255=)
c.750G>A (p.Leu250=)
 dbSNP ExAC gnomAD v2
Xg.153870430A>CCA415133168L1CAMc.764T>G (p.Leu255Trp)
c.749T>G (p.Leu250Trp)
Xg.153870430A>GCA415133171L1CAMc.764T>C (p.Leu255Ser)
c.749T>C (p.Leu250Ser)
Xg.153870430A>TCA415133172L1CAMc.764T>A (p.Leu255Ter)
c.749T>A (p.Leu250Ter)
Xg.153870431A>CCA415133173L1CAMc.763T>G (p.Leu255Val)
c.748T>G (p.Leu250Val)
Xg.153870431A>GCA519208966L1CAMc.763T>C (p.Leu255=)
c.748T>C (p.Leu250=)
Xg.153870431A>TCA415133175L1CAMc.763T>A (p.Leu255Met)
c.748T>A (p.Leu250Met)
Xg.153870432G>ACA10554510L1CAMc.762C>T (p.Ala254=)
c.747C>T (p.Ala249=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870432G>CCA519208976L1CAMc.762C>G (p.Ala254=)
c.747C>G (p.Ala249=)
Xg.153870432G=CA2466507158L1CAMc.762C= (p.Ala254=)
c.747C= (p.Ala249=)
Xg.153870432G>TCA519208978L1CAMc.762C>A (p.Ala254=)
c.747C>A (p.Ala249=)
Xg.153870433G>ACA415133179L1CAMc.761C>T (p.Ala254Val)
c.746C>T (p.Ala249Val)
Xg.153870433G>CCA415133181L1CAMc.761C>G (p.Ala254Gly)
c.746C>G (p.Ala249Gly)
Xg.153870433G>TCA415133185L1CAMc.761C>A (p.Ala254Asp)
c.746C>A (p.Ala249Asp)
Xg.153870434C>ACA415133189L1CAMc.760G>T (p.Ala254Ser)
c.745G>T (p.Ala249Ser)
Xg.153870434C>GCA415133191L1CAMc.760G>C (p.Ala254Pro)
c.745G>C (p.Ala249Pro)
Xg.153870434C>TCA415133194L1CAMc.760G>A (p.Ala254Thr)
c.745G>A (p.Ala249Thr)
Xg.153870435C>ACA519208993L1CAMc.759G>T (p.Val253=)
c.744G>T (p.Val248=)
Xg.153870435C>GCA519208994L1CAMc.759G>C (p.Val253=)
c.744G>C (p.Val248=)
Xg.153870435C>TCA519208996L1CAMc.759G>A (p.Val253=)
c.744G>A (p.Val248=)
Xg.153870436A>CCA415133202L1CAMc.758T>G (p.Val253Gly)
c.743T>G (p.Val248Gly)
Xg.153870436A>GCA415133197L1CAMc.758T>C (p.Val253Ala)
c.743T>C (p.Val248Ala)
Xg.153870436A>TCA415133199L1CAMc.758T>A (p.Val253Glu)
c.743T>A (p.Val248Glu)
Xg.153870437C>ACA415133204L1CAMc.757G>T (p.Val253Leu)
c.742G>T (p.Val248Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.153870437C=CA2466507159L1CAMc.757G= (p.Val253=)
c.742G= (p.Val248=)
Xg.153870437C>GCA415133206L1CAMc.757G>C (p.Val253Leu)
c.742G>C (p.Val248Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870437C>TCA415133207L1CAMc.757G>A (p.Val253Met)
c.742G>A (p.Val248Met)
Xg.153870438C>ACA519209015L1CAMc.756G>T (p.Leu252=)
c.741G>T (p.Leu247=)
 gnomAD v4
Xg.153870438C=CA2466507160L1CAMc.756G= (p.Leu252=)
c.741G= (p.Leu247=)
Xg.153870438C>GCA10554511L1CAMc.756G>C (p.Leu252=)
c.741G>C (p.Leu247=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870438C>TCA519209019L1CAMc.756G>A (p.Leu252=)
c.741G>A (p.Leu247=)
Xg.153870439A>CCA415133219L1CAMc.755T>G (p.Leu252Arg)
c.740T>G (p.Leu247Arg)
Xg.153870439A>GCA415133222L1CAMc.755T>C (p.Leu252Pro)
c.740T>C (p.Leu247Pro)
Xg.153870439A>TCA415133224L1CAMc.755T>A (p.Leu252Gln)
c.740T>A (p.Leu247Gln)
Xg.153870440G>ACA519209028L1CAMc.754C>T (p.Leu252=)
c.739C>T (p.Leu247=)
Xg.153870440G>CCA415133227L1CAMc.754C>G (p.Leu252Val)
c.739C>G (p.Leu247Val)
 dbSNP
Xg.153870440G=CA2466507161L1CAMc.754C= (p.Leu252=)
c.739C= (p.Leu247=)
Xg.153870440G>TCA415133229L1CAMc.754C>A (p.Leu252Met)
c.739C>A (p.Leu247Met)
Xg.153870441delCA2740090189L1CAMc.754del (p.Leu252TrpfsTer?)
c.739del (p.Leu247TrpfsTer?)
 ClinVar
Xg.153870441G>ACA519209035L1CAMc.753C>T (p.His251=)
c.738C>T (p.His246=)
Xg.153870441G>CCA415133231L1CAMc.753C>G (p.His251Gln)
c.738C>G (p.His246Gln)
Xg.153870441G>TCA415133233L1CAMc.753C>A (p.His251Gln)
c.738C>A (p.His246Gln)
 COSMIC
Xg.153870442T>ACA415133242L1CAMc.752A>T (p.His251Leu)
c.737A>T (p.His246Leu)
Xg.153870442T>CCA415133236L1CAMc.752A>G (p.His251Arg)
c.737A>G (p.His246Arg)
Xg.153870442T>GCA415133239L1CAMc.752A>C (p.His251Pro)
c.737A>C (p.His246Pro)
Xg.153870443G>ACA415133244L1CAMc.751C>T (p.His251Tyr)
c.736C>T (p.His246Tyr)
Xg.153870443G>CCA415133246L1CAMc.751C>G (p.His251Asp)
c.736C>G (p.His246Asp)
 ClinVar gnomAD v4
Xg.153870443G>TCA415133248L1CAMc.751C>A (p.His251Asn)
c.736C>A (p.His246Asn)
Xg.153870444G>ACA337263564L1CAMc.750C>T (p.Ser250=)
c.735C>T (p.Ser245=)
 dbSNP
Xg.153870444G>CCA415133254L1CAMc.750C>G (p.Ser250Arg)
c.735C>G (p.Ser245Arg)
Xg.153870444G=CA2466507162L1CAMc.750C= (p.Ser250=)
c.735C= (p.Ser245=)
Xg.153870444G>TCA10554512L1CAMc.750C>A (p.Ser250Arg)
c.735C>A (p.Ser245Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153870444_153870445delinsGCCA2466507163L1CAMc.749_750delinsGC (p.Ser250=)
c.734_735delinsGC (p.Ser245=)
Xg.153870445delCA915952052L1CAMc.749del (p.Ser250ThrfsTer?)
c.734del (p.Ser245ThrfsTer?)
 ClinVar dbSNP
Xg.153870445C>ACA415133265L1CAMc.749G>T (p.Ser250Ile)
c.734G>T (p.Ser245Ile)
Xg.153870445C>GCA415133260L1CAMc.749G>C (p.Ser250Thr)
c.734G>C (p.Ser245Thr)
Xg.153870445C>TCA415133262L1CAMc.749G>A (p.Ser250Asn)
c.734G>A (p.Ser245Asn)
Xg.153870446T>ACA415133268L1CAMc.748A>T (p.Ser250Cys)
c.733A>T (p.Ser245Cys)
Xg.153870446T>CCA415133270L1CAMc.748A>G (p.Ser250Gly)
c.733A>G (p.Ser245Gly)
Xg.153870446T>GCA415133271L1CAMc.748A>C (p.Ser250Arg)
c.733A>C (p.Ser245Arg)
Xg.153870447G>ACA519209071L1CAMc.747C>T (p.Ser249=)
c.732C>T (p.Ser244=)
 ClinVar
Xg.153870447G>CCA415133275L1CAMc.747C>G (p.Ser249Arg)
c.732C>G (p.Ser244Arg)
Xg.153870447G>TCA415133277L1CAMc.747C>A (p.Ser249Arg)
c.732C>A (p.Ser244Arg)
Xg.153870448C>ACA415133279L1CAMc.746G>T (p.Ser249Ile)
c.731G>T (p.Ser244Ile)
Xg.153870448C>GCA415133283L1CAMc.746G>C (p.Ser249Thr)
c.731G>C (p.Ser244Thr)
Xg.153870448C>TCA415133281L1CAMc.746G>A (p.Ser249Asn)
c.731G>A (p.Ser244Asn)
Xg.153870449T>ACA415133286L1CAMc.745A>T (p.Ser249Cys)
c.730A>T (p.Ser244Cys)
Xg.153870449T>CCA415133288L1CAMc.745A>G (p.Ser249Gly)
c.730A>G (p.Ser244Gly)
Xg.153870449T>GCA415133290L1CAMc.745A>C (p.Ser249Arg)
c.730A>C (p.Ser244Arg)
Xg.153870450G>ACA519209098L1CAMc.744C>T (p.Ser248=)
c.729C>T (p.Ser243=)
Xg.153870450G>CCA519209100L1CAMc.744C>G (p.Ser248=)
c.729C>G (p.Ser243=)
Xg.153870450G>TCA519209103L1CAMc.744C>A (p.Ser248=)
c.729C>A (p.Ser243=)
Xg.153870451G>ACA415133292L1CAMc.743C>T (p.Ser248Phe)
c.728C>T (p.Ser243Phe)
 dbSNP gnomAD v2 gnomAD v4
Xg.153870451G>CCA415133294L1CAMc.743C>G (p.Ser248Cys)
c.728C>G (p.Ser243Cys)
Xg.153870451G=CA2466507164L1CAMc.743C= (p.Ser248=)
c.728C= (p.Ser243=)
Xg.153870451G>TCA10554513L1CAMc.743C>A (p.Ser248Tyr)
c.728C>A (p.Ser243Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153870452A>CCA415133297L1CAMc.742T>G (p.Ser248Ala)
c.727T>G (p.Ser243Ala)
Xg.153870452A>GCA415133298L1CAMc.742T>C (p.Ser248Pro)
c.727T>C (p.Ser243Pro)
Xg.153870452A>TCA415133300L1CAMc.742T>A (p.Ser248Thr)
c.727T>A (p.Ser243Thr)
Xg.153870453G>ACA519209118L1CAMc.741C>T (p.Asn247=)
c.726C>T (p.Asn242=)
Xg.153870453G>CCA415133302L1CAMc.741C>G (p.Asn247Lys)
c.726C>G (p.Asn242Lys)
Xg.153870453G>TCA415133303L1CAMc.741C>A (p.Asn247Lys)
c.726C>A (p.Asn242Lys)
Xg.153870454T>ACA415133308L1CAMc.740A>T (p.Asn247Ile)
c.725A>T (p.Asn242Ile)
Xg.153870454T>CCA415133306L1CAMc.740A>G (p.Asn247Ser)
c.725A>G (p.Asn242Ser)
Xg.153870454T>GCA415133307L1CAMc.740A>C (p.Asn247Thr)
c.725A>C (p.Asn242Thr)
Xg.153870455T>ACA415133310L1CAMc.739A>T (p.Asn247Tyr)
c.724A>T (p.Asn242Tyr)
Xg.153870455T>CCA415133311L1CAMc.739A>G (p.Asn247Asp)
c.724A>G (p.Asn242Asp)
Xg.153870455T>GCA415133313L1CAMc.739A>C (p.Asn247His)
c.724A>C (p.Asn242His)
Xg.153870456G>ACA519209136L1CAMc.738C>T (p.Thr246=)
c.723C>T (p.Thr241=)
Xg.153870456G>CCA519209139L1CAMc.738C>G (p.Thr246=)
c.723C>G (p.Thr241=)
Xg.153870456G>TCA519209142L1CAMc.738C>A (p.Thr246=)
c.723C>A (p.Thr241=)
Xg.153870457G>ACA10554514L1CAMc.737C>T (p.Thr246Ile)
c.722C>T (p.Thr241Ile)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.153870457G>CCA415133316L1CAMc.737C>G (p.Thr246Ser)
c.722C>G (p.Thr241Ser)
Xg.153870457G=CA2466507165L1CAMc.737C= (p.Thr246=)
c.722C= (p.Thr241=)
Xg.153870457G>TCA415133318L1CAMc.737C>A (p.Thr246Asn)
c.722C>A (p.Thr241Asn)
Xg.153870458T>ACA415133320L1CAMc.736A>T (p.Thr246Ser)
c.721A>T (p.Thr241Ser)
Xg.153870458T>CCA10554515L1CAMc.736A>G (p.Thr246Ala)
c.721A>G (p.Thr241Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870458T>GCA415133321L1CAMc.736A>C (p.Thr246Pro)
c.721A>C (p.Thr241Pro)
Xg.153870458T=CA2466507166L1CAMc.736A= (p.Thr246=)
c.721A= (p.Thr241=)
Xg.153870459G>ACA519209159L1CAMc.735C>T (p.Pro245=)
c.720C>T (p.Pro240=)
 ClinVar dbSNP
Xg.153870459G>CCA519209163L1CAMc.735C>G (p.Pro245=)
c.720C>G (p.Pro240=)
Xg.153870459G=CA2466507167L1CAMc.735C= (p.Pro245=)
c.720C= (p.Pro240=)
Xg.153870459G>TCA519209166L1CAMc.735C>A (p.Pro245=)
c.720C>A (p.Pro240=)
Xg.153870462delCA2579733006L1CAMc.735del (p.Thr246ProfsTer?)
c.720del (p.Thr241ProfsTer?)
Xg.153870460G>ACA415133322L1CAMc.734C>T (p.Pro245Leu)
c.719C>T (p.Pro240Leu)
 gnomAD v4
Xg.153870460G>CCA415133324L1CAMc.734C>G (p.Pro245Arg)
c.719C>G (p.Pro240Arg)
Xg.153870460G>TCA415133330L1CAMc.734C>A (p.Pro245His)
c.719C>A (p.Pro240His)
Xg.153870461G>ACA415133337L1CAMc.733C>T (p.Pro245Ser)
c.718C>T (p.Pro240Ser)
Xg.153870461G>CCA415133334L1CAMc.733C>G (p.Pro245Ala)
c.718C>G (p.Pro240Ala)
Xg.153870461G>TCA415133332L1CAMc.733C>A (p.Pro245Thr)
c.718C>A (p.Pro240Thr)
Xg.153870462G>ACA519209183L1CAMc.732C>T (p.Phe244=)
c.717C>T (p.Phe239=)
Xg.153870462G>CCA415133339L1CAMc.732C>G (p.Phe244Leu)
c.717C>G (p.Phe239Leu)
Xg.153870462G>TCA415133341L1CAMc.732C>A (p.Phe244Leu)
c.717C>A (p.Phe239Leu)
Xg.153870463A>CCA415133343L1CAMc.731T>G (p.Phe244Cys)
c.716T>G (p.Phe239Cys)
Xg.153870463A>GCA415133345L1CAMc.731T>C (p.Phe244Ser)
c.716T>C (p.Phe239Ser)
Xg.153870463A>TCA415133347L1CAMc.731T>A (p.Phe244Tyr)
c.716T>A (p.Phe239Tyr)
Xg.153870464A>CCA415133351L1CAMc.730T>G (p.Phe244Val)
c.715T>G (p.Phe239Val)
 gnomAD v4
Xg.153870464A>GCA415133353L1CAMc.730T>C (p.Phe244Leu)
c.715T>C (p.Phe239Leu)
Xg.153870464A>TCA415133356L1CAMc.730T>A (p.Phe244Ile)
c.715T>A (p.Phe239Ile)
Xg.153870465G>ACA10554516L1CAMc.729C>T (p.Leu243=)
c.714C>T (p.Leu238=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.153870465G>CCA519209199L1CAMc.729C>G (p.Leu243=)
c.714C>G (p.Leu238=)
Xg.153870465G=CA2466507168L1CAMc.729C= (p.Leu243=)
c.714C= (p.Leu238=)
Xg.153870465G>TCA519209197L1CAMc.729C>A (p.Leu243=)
c.714C>A (p.Leu238=)
 dbSNP
Xg.153870466A>CCA415133361L1CAMc.728T>G (p.Leu243Arg)
c.713T>G (p.Leu238Arg)
 COSMIC
Xg.153870466A>GCA415133363L1CAMc.728T>C (p.Leu243Pro)
c.713T>C (p.Leu238Pro)
Xg.153870466A>TCA415133366L1CAMc.728T>A (p.Leu243His)
c.713T>A (p.Leu238His)
Xg.153870467G>ACA415133367L1CAMc.727C>T (p.Leu243Phe)
c.712C>T (p.Leu238Phe)
 gnomAD v4
Xg.153870467G>CCA415133372L1CAMc.727C>G (p.Leu243Val)
c.712C>G (p.Leu238Val)
Xg.153870467G=CA2466507169L1CAMc.727C= (p.Leu243=)
c.712C= (p.Leu238=)
Xg.153870467G>TCA337263586L1CAMc.727C>A (p.Leu243Ile)
c.712C>A (p.Leu238Ile)
 dbSNP
Xg.153870468C>ACA10554517L1CAMc.726G>T (p.Leu242=)
c.711G>T (p.Leu237=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870468C=CA2466507170L1CAMc.726G= (p.Leu242=)
c.711G= (p.Leu237=)
Xg.153870468C>GCA519209214L1CAMc.726G>C (p.Leu242=)
c.711G>C (p.Leu237=)
Xg.153870468C>TCA10554518L1CAMc.726G>A (p.Leu242=)
c.711G>A (p.Leu237=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870469A>CCA415133379L1CAMc.725T>G (p.Leu242Arg)
c.710T>G (p.Leu237Arg)
Xg.153870469A>GCA415133381L1CAMc.725T>C (p.Leu242Pro)
c.710T>C (p.Leu237Pro)
Xg.153870469A>TCA415133383L1CAMc.725T>A (p.Leu242Gln)
c.710T>A (p.Leu237Gln)
Xg.153870470G>ACA519209227L1CAMc.724C>T (p.Leu242=)
c.709C>T (p.Leu237=)
Xg.153870470G>CCA415133387L1CAMc.724C>G (p.Leu242Val)
c.709C>G (p.Leu237Val)
Xg.153870470G>TCA415133390L1CAMc.724C>A (p.Leu242Met)
c.709C>A (p.Leu237Met)
Xg.153870471G>ACA10554519L1CAMc.723C>T (p.Arg241=)
c.708C>T (p.Arg236=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153870471G>CCA519209237L1CAMc.723C>G (p.Arg241=)
c.708C>G (p.Arg236=)
Xg.153870471G=CA2466507171L1CAMc.723C= (p.Arg241=)
c.708C= (p.Arg236=)
Xg.153870471G>TCA519209234L1CAMc.723C>A (p.Arg241=)
c.708C>A (p.Arg236=)
Xg.153870472C>ACA415133392L1CAMc.722G>T (p.Arg241Leu)
c.707G>T (p.Arg236Leu)
 gnomAD v4
Xg.153870472C=CA2466507172L1CAMc.722G= (p.Arg241=)
c.707G= (p.Arg236=)
Xg.153870472C>GCA415133395L1CAMc.722G>C (p.Arg241Pro)
c.707G>C (p.Arg236Pro)
Xg.153870472C>TCA10554520L1CAMc.722G>A (p.Arg241His)
c.707G>A (p.Arg236His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870473G>ACA337263590L1CAMc.721C>T (p.Arg241Cys)
c.706C>T (p.Arg236Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.153870473G>CCA415133401L1CAMc.721C>G (p.Arg241Gly)
c.706C>G (p.Arg236Gly)
Xg.153870473G=CA2466507173L1CAMc.721C= (p.Arg241=)
c.706C= (p.Arg236=)
Xg.153870473G>TCA415133403L1CAMc.721C>A (p.Arg241Ser)
c.706C>A (p.Arg236Ser)
Xg.153870474C>ACA519209262L1CAMc.720G>T (p.Pro240=)
c.705G>T (p.Pro235=)
Xg.153870474C=CA2466507174L1CAMc.720G= (p.Pro240=)
c.705G= (p.Pro235=)
Xg.153870474C>GCA519209258L1CAMc.720G>C (p.Pro240=)
c.705G>C (p.Pro235=)
Xg.153870474C>TCA146097L1CAMc.720G>A (p.Pro240=)
c.705G>A (p.Pro235=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870475G>ACA120882L1CAMc.719C>T (p.Pro240Leu)
c.704C>T (p.Pro235Leu)
 ClinVar dbSNP
Xg.153870475G>CCA415133410L1CAMc.719C>G (p.Pro240Arg)
c.704C>G (p.Pro235Arg)
Xg.153870475G=CA2466507175L1CAMc.719C= (p.Pro240=)
c.704C= (p.Pro235=)
Xg.153870475G>TCA415133411L1CAMc.719C>A (p.Pro240Gln)
c.704C>A (p.Pro235Gln)
Xg.153870476G>ACA415133414L1CAMc.718C>T (p.Pro240Ser)
c.703C>T (p.Pro235Ser)
Xg.153870476G>CCA415133416L1CAMc.718C>G (p.Pro240Ala)
c.703C>G (p.Pro235Ala)
Xg.153870476G>TCA415133419L1CAMc.718C>A (p.Pro240Thr)
c.703C>A (p.Pro235Thr)
Xg.153870477C>ACA415133421L1CAMc.717G>T (p.Lys239Asn)
c.702G>T (p.Lys234Asn)
Xg.153870477C>GCA415133423L1CAMc.717G>C (p.Lys239Asn)
c.702G>C (p.Lys234Asn)
Xg.153870477C>TCA519209275L1CAMc.717G>A (p.Lys239=)
c.702G>A (p.Lys234=)
Xg.153870478T>ACA415133428L1CAMc.716A>T (p.Lys239Met)
c.701A>T (p.Lys234Met)
Xg.153870478T>CCA415133430L1CAMc.716A>G (p.Lys239Arg)
c.701A>G (p.Lys234Arg)
Xg.153870478T>GCA415133432L1CAMc.716A>C (p.Lys239Thr)
c.701A>C (p.Lys234Thr)
Xg.153870479T>ACA415133439L1CAMc.715A>T (p.Lys239Ter)
c.700A>T (p.Lys234Ter)
Xg.153870479T>CCA415133436L1CAMc.715A>G (p.Lys239Glu)
c.700A>G (p.Lys234Glu)
Xg.153870479T>GCA415133435L1CAMc.715A>C (p.Lys239Gln)
c.700A>C (p.Lys234Gln)
Xg.153870480C>ACA415133444L1CAMc.714G>T (p.Arg238Ser)
c.699G>T (p.Arg233Ser)
Xg.153870480C>GCA415133445L1CAMc.714G>C (p.Arg238Ser)
c.699G>C (p.Arg233Ser)
Xg.153870480C>TCA519209291L1CAMc.714G>A (p.Arg238=)
c.699G>A (p.Arg233=)
Xg.153870481C>ACA415133447L1CAMc.713G>T (p.Arg238Met)
c.698G>T (p.Arg233Met)
Xg.153870481C=CA2466507176L1CAMc.713G= (p.Arg238=)
c.698G= (p.Arg233=)
Xg.153870481C>GCA415133450L1CAMc.713G>C (p.Arg238Thr)
c.698G>C (p.Arg233Thr)
Xg.153870481C>TCA337263601L1CAMc.713G>A (p.Arg238Lys)
c.698G>A (p.Arg233Lys)
 dbSNP gnomAD v2 gnomAD v4
Xg.153870482_153870485dupCA2695236876L1CAMc.710_713dup (p.Lys239GlnfsTer?)
c.695_698dup (p.Lys234GlnfsTer?)
Xg.153870482T>ACA415133453L1CAMc.712A>T (p.Arg238Trp)
c.697A>T (p.Arg233Trp)
Xg.153870482T>CCA415133456L1CAMc.712A>G (p.Arg238Gly)
c.697A>G (p.Arg233Gly)
Xg.153870482T>GCA519209299L1CAMc.712A>C (p.Arg238=)
c.697A>C (p.Arg233=)
 gnomAD v4
Xg.153870483G>ACA519209303L1CAMc.711C>T (p.Asp237=)
c.696C>T (p.Asp232=)
Xg.153870483G>CCA415133460L1CAMc.711C>G (p.Asp237Glu)
c.696C>G (p.Asp232Glu)
 gnomAD v4
Xg.153870483G>TCA415133462L1CAMc.711C>A (p.Asp237Glu)
c.696C>A (p.Asp232Glu)
 gnomAD v4
Xg.153870484T>ACA415133464L1CAMc.710A>T (p.Asp237Val)
c.695A>T (p.Asp232Val)
Xg.153870484T>CCA415133467L1CAMc.710A>G (p.Asp237Gly)
c.695A>G (p.Asp232Gly)
Xg.153870484T>GCA415133468L1CAMc.710A>C (p.Asp237Ala)
c.695A>C (p.Asp232Ala)
Xg.153870485C>ACA415133474L1CAMc.709G>T (p.Asp237Tyr)
c.694G>T (p.Asp232Tyr)
Xg.153870485C>GCA415133471L1CAMc.709G>C (p.Asp237His)
c.694G>C (p.Asp232His)
Xg.153870485C>TCA415133473L1CAMc.709G>A (p.Asp237Asn)
c.694G>A (p.Asp232Asn)
Xg.153870486A>CCA415133476L1CAMc.708T>G (p.Ile236Met)
c.693T>G (p.Ile231Met)
Xg.153870486A>GCA519209317L1CAMc.708T>C (p.Ile236=)
c.693T>C (p.Ile231=)
Xg.153870486A>TCA519209319L1CAMc.708T>A (p.Ile236=)
c.693T>A (p.Ile231=)
Xg.153870487A=CA2466507177L1CAMc.707T= (p.Ile236=)
c.692T= (p.Ile231=)
Xg.153870487A>CCA415133480L1CAMc.707T>G (p.Ile236Ser)
c.692T>G (p.Ile231Ser)
Xg.153870487A>GCA415133483L1CAMc.707T>C (p.Ile236Thr)
c.692T>C (p.Ile231Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.153870487A>TCA415133486L1CAMc.707T>A (p.Ile236Asn)
c.692T>A (p.Ile231Asn)
Xg.153870488T>ACA415133491L1CAMc.706A>T (p.Ile236Phe)
c.691A>T (p.Ile231Phe)
Xg.153870488T>CCA415133493L1CAMc.706A>G (p.Ile236Val)
c.691A>G (p.Ile231Val)
Xg.153870488T>GCA415133495L1CAMc.706A>C (p.Ile236Leu)
c.691A>C (p.Ile231Leu)
Xg.153870489C>ACA415133501L1CAMc.705G>T (p.Met235Ile)
c.690G>T (p.Met230Ile)
Xg.153870489C>GCA415133503L1CAMc.705G>C (p.Met235Ile)
c.690G>C (p.Met230Ile)
Xg.153870489C>TCA415133514L1CAMc.705G>A (p.Met235Ile)
c.690G>A (p.Met230Ile)
Xg.153870490A=CA2466507178L1CAMc.704T= (p.Met235=)
c.689T= (p.Met230=)
Xg.153870490A>CCA415133517L1CAMc.704T>G (p.Met235Arg)
c.689T>G (p.Met230Arg)
 gnomAD v4
Xg.153870490A>GCA415133522L1CAMc.704T>C (p.Met235Thr)
c.689T>C (p.Met230Thr)
 ClinVar dbSNP
Xg.153870490A>TCA415133520L1CAMc.704T>A (p.Met235Lys)
c.689T>A (p.Met230Lys)
 COSMIC
Xg.153870491T>ACA415133524L1CAMc.703A>T (p.Met235Leu)
c.688A>T (p.Met230Leu)
Xg.153870491T>CCA415133528L1CAMc.703A>G (p.Met235Val)
c.688A>G (p.Met230Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870491T>GCA415133525L1CAMc.703A>C (p.Met235Leu)
c.688A>C (p.Met230Leu)
Xg.153870491T=CA2466507179L1CAMc.703A= (p.Met235=)
c.688A= (p.Met230=)
Xg.153870492G>ACA519209347L1CAMc.702C>T (p.Ser234=)
c.687C>T (p.Ser229=)
 dbSNP
Xg.153870492G>CCA415133532L1CAMc.702C>G (p.Ser234Arg)
c.687C>G (p.Ser229Arg)
Xg.153870492G=CA2466507180L1CAMc.702C= (p.Ser234=)
c.687C= (p.Ser229=)
Xg.153870492G>TCA415133533L1CAMc.702C>A (p.Ser234Arg)
c.687C>A (p.Ser229Arg)
 dbSNP
Xg.153870493C>ACA415133535L1CAMc.701G>T (p.Ser234Ile)
c.686G>T (p.Ser229Ile)
Xg.153870493C=CA2466507181L1CAMc.701G= (p.Ser234=)
c.686G= (p.Ser229=)
Xg.153870493C>GCA415133540L1CAMc.701G>C (p.Ser234Thr)
c.686G>C (p.Ser229Thr)
 gnomAD v4
Xg.153870493C>TCA415133538L1CAMc.701G>A (p.Ser234Asn)
c.686G>A (p.Ser229Asn)
 dbSNP gnomAD v4
Xg.153870494T>ACA415133544L1CAMc.700A>T (p.Ser234Cys)
c.685A>T (p.Ser229Cys)
Xg.153870494T>CCA415133548L1CAMc.700A>G (p.Ser234Gly)
c.685A>G (p.Ser229Gly)
Xg.153870494T>GCA415133546L1CAMc.700A>C (p.Ser234Arg)
c.685A>C (p.Ser229Arg)
Xg.153870495G>ACA519209357L1CAMc.699C>T (p.Asn233=)
c.684C>T (p.Asn228=)
 dbSNP gnomAD v4
Xg.153870495G>CCA415133551L1CAMc.699C>G (p.Asn233Lys)
c.684C>G (p.Asn228Lys)
Xg.153870495G=CA2466507182L1CAMc.699C= (p.Asn233=)
c.684C= (p.Asn228=)
Xg.153870495G>TCA415133553L1CAMc.699C>A (p.Asn233Lys)
c.684C>A (p.Asn228Lys)
 COSMIC
Xg.153870496T>ACA415133556L1CAMc.698A>T (p.Asn233Ile)
c.683A>T (p.Asn228Ile)
Xg.153870496T>CCA415133558L1CAMc.698A>G (p.Asn233Ser)
c.683A>G (p.Asn228Ser)
 gnomAD v4
Xg.153870496T>GCA415133561L1CAMc.698A>C (p.Asn233Thr)
c.683A>C (p.Asn228Thr)
Xg.153870497T>ACA415133565L1CAMc.697A>T (p.Asn233Tyr)
c.682A>T (p.Asn228Tyr)
Xg.153870497T>CCA415133567L1CAMc.697A>G (p.Asn233Asp)
c.682A>G (p.Asn228Asp)
Xg.153870497T>GCA415133570L1CAMc.697A>C (p.Asn233His)
c.682A>C (p.Asn228His)
Xg.153870498G>ACA337263603L1CAMc.696C>T (p.Thr232=)
c.681C>T (p.Thr227=)
 dbSNP
Xg.153870498G>CCA519209373L1CAMc.696C>G (p.Thr232=)
c.681C>G (p.Thr227=)
 ClinVar gnomAD v4
Xg.153870498G=CA2466507183L1CAMc.696C= (p.Thr232=)
c.681C= (p.Thr227=)
Xg.153870498G>TCA519209376L1CAMc.696C>A (p.Thr232=)
c.681C>A (p.Thr227=)
Xg.153870499delCA2579733007L1CAMc.696del (p.Asn233ThrfsTer3)
c.681del (p.Asn228ThrfsTer3)
Xg.153870499G>ACA415133573L1CAMc.695C>T (p.Thr232Ile)
c.680C>T (p.Thr227Ile)
Xg.153870499G>CCA415133574L1CAMc.695C>G (p.Thr232Ser)
c.680C>G (p.Thr227Ser)
Xg.153870499G>TCA415133576L1CAMc.695C>A (p.Thr232Asn)
c.680C>A (p.Thr227Asn)
Xg.153870500C>ACA415133583L1CAMc.695-1G>T (n.695-1G>T)
c.680-1G>T (n.680-1G>T)
Xg.153870500C>GCA415133579L1CAMc.695-1G>C (n.695-1G>C)
c.680-1G>C (n.680-1G>C)
Xg.153870500C>TCA415133581L1CAMc.695-1G>A (n.695-1G>A)
c.680-1G>A (n.680-1G>A)
Xg.153870501T>ACA415133586L1CAMc.695-2A>T (n.695-2A>T)
c.680-2A>T (n.680-2A>T)
Xg.153870501T>CCA415133589L1CAMc.695-2A>G (n.695-2A>G)
c.680-2A>G (n.680-2A>G)
Xg.153870501T>GCA415133591L1CAMc.695-2A>C (n.695-2A>C)
c.680-2A>C (n.680-2A>C)
Xg.153870502G>TCA2579733008L1CAMc.695-3C>A (n.695-3C>A)
c.680-3C>A (n.680-3C>A)
Xg.153870503C>ACA2695068622L1CAMc.695-4G>T (n.695-4G>T)
c.680-4G>T (n.680-4G>T)
 gnomAD v4
Xg.153870503C>TCA1138548944L1CAMc.695-4G>A (n.695-4G>A)
c.680-4G>A (n.680-4G>A)
 gnomAD v4
Xg.153870504C>ACA2554555346L1CAMc.695-5G>T (n.695-5G>T)
c.680-5G>T (n.680-5G>T)
Xg.153870504C=CA2466507184L1CAMc.695-5G= (n.695-5G=)
c.680-5G= (n.680-5G=)
Xg.153870504C>TCA10554521L1CAMc.695-5G>A (n.695-5G>A)
c.680-5G>A (n.680-5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153870505A>CCA2695068623L1CAMc.695-6T>G (n.695-6T>G)
c.680-6T>G (n.680-6T>G)
 gnomAD v4
Xg.153870505_153870506delCA2579733009L1CAMc.695-7_695-6del (n.695-7_695-6del)
c.680-7_680-6del (n.680-7_680-6del)
Xg.153870506G>TCA2695068624L1CAMc.695-7C>A (n.695-7C>A)
c.680-7C>A (n.680-7C>A)
 gnomAD v4
Xg.153870507G>ACA10554522L1CAMc.695-8C>T (n.695-8C>T)
c.680-8C>T (n.680-8C>T)
 ClinVar dbSNP ExAC gnomAD v4
Xg.153870507G=CA2466507185L1CAMc.695-8C= (n.695-8C=)
c.680-8C= (n.680-8C=)
Xg.153870509G>ACA10554523L1CAMc.695-10C>T (n.695-10C>T)
c.680-10C>T (n.680-10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870509G=CA2466507186L1CAMc.695-10C= (n.695-10C=)
c.680-10C= (n.680-10C=)
Xg.153870509G>TCA2695068625L1CAMc.695-10C>A (n.695-10C>A)
c.680-10C>A (n.680-10C>A)
 gnomAD v4
Xg.153870510A>GCA2579733010L1CAMc.695-11T>C (n.695-11T>C)
c.680-11T>C (n.680-11T>C)
Xg.153870511A>CCA2824264252L1CAMc.695-12T>G (n.695-12T>G)
c.680-12T>G (n.680-12T>G)
Xg.153870511A>GCA2695068626L1CAMc.695-12T>C (n.695-12T>C)
c.680-12T>C (n.680-12T>C)
 gnomAD v4
Xg.153870513G>ACA2695068627L1CAMc.695-14C>T (n.695-14C>T)
c.680-14C>T (n.680-14C>T)
 gnomAD v4
Xg.153870513G>CCA2695068628L1CAMc.695-14C>G (n.695-14C>G)
c.680-14C>G (n.680-14C>G)
 gnomAD v4
Xg.153870513G=CA2466507187L1CAMc.695-14C= (n.695-14C=)
c.680-14C= (n.680-14C=)
Xg.153870513G>TCA10554524L1CAMc.695-14C>A (n.695-14C>A)
c.680-14C>A (n.680-14C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870522_153870525delCA2579733011L1CAMc.695-17_695-14del (n.695-17_695-14del)
c.680-17_680-14del (n.680-17_680-14del)
 gnomAD v4
Xg.153870515G>TCA2695068629L1CAMc.695-16C>A (n.695-16C>A)
c.680-16C>A (n.680-16C>A)
 gnomAD v4
Xg.153870517delCA2579733012L1CAMc.695-16del (n.695-16del)
c.680-16del (n.680-16del)
Xg.153870516G>TCA2695068630L1CAMc.695-17C>A (n.695-17C>A)
c.680-17C>A (n.680-17C>A)
 gnomAD v4
Xg.153870518_153870520dupCA2697544840L1CAMc.695-19_695-17dup (n.695-19_695-17dup)
c.680-19_680-17dup (n.680-19_680-17dup)
 ClinVar

Number of alleles fetched