Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.30307936_30311263delCA658653869 ClinVar
Xg.30308484_30308534delCA2695232183NR0B1c.834_884del (p.Pro279_Leu295del)
Xg.30308484G>ACA515946276NR0B1c.880C>T (p.Leu294=)
c.-6C>T (n.-6C>T)
Xg.30308484G>CCA412547464NR0B1c.880C>G (p.Leu294Val)
c.-6C>G (n.-6C>G)
Xg.30308484G>TCA412547466NR0B1c.880C>A (p.Leu294Met)
c.-6C>A (n.-6C>A)
gnomAD v4
Xg.30308485G>ACA515946281NR0B1c.879C>T (p.Ser293=)
c.-7C>T (n.-7C>T)
Xg.30308485G>CCA515946282NR0B1c.879C>G (p.Ser293=)
c.-7C>G (n.-7C>G)
Xg.30308485G>TCA515946283NR0B1c.879C>A (p.Ser293=)
c.-7C>A (n.-7C>A)
Xg.30308486G>ACA412547468NR0B1c.878C>T (p.Ser293Phe)
c.-8C>T (n.-8C>T)
Xg.30308486G>CCA412547472NR0B1c.878C>G (p.Ser293Cys)
c.-8C>G (n.-8C>G)
Xg.30308486G>TCA412547470NR0B1c.878C>A (p.Ser293Tyr)
c.-8C>A (n.-8C>A)
Xg.30308487A>CCA412547474NR0B1c.877T>G (p.Ser293Ala)
c.-9T>G (n.-9T>G)
Xg.30308487A>GCA412547475NR0B1c.877T>C (p.Ser293Pro)
c.-9T>C (n.-9T>C)
Xg.30308487A>TCA412547477NR0B1c.877T>A (p.Ser293Thr)
c.-9T>A (n.-9T>A)
Xg.30308488C>ACA515946289NR0B1c.876G>T (p.Ala292=)
c.-10G>T (n.-10G>T)
Xg.30308488C>GCA515946286NR0B1c.876G>C (p.Ala292=)
c.-10G>C (n.-10G>C)
Xg.30308488C>TCA515946284NR0B1c.876G>A (p.Ala292=)
c.-10G>A (n.-10G>A)
Xg.30308489G>ACA412547478NR0B1c.875C>T (p.Ala292Val)
gnomAD v4
Xg.30308489G>CCA412547479NR0B1c.875C>G (p.Ala292Gly)
Xg.30308489G>TCA412547481NR0B1c.875C>A (p.Ala292Glu)
Xg.30308490C>ACA412547483NR0B1c.874G>T (p.Ala292Ser)
dbSNP gnomAD v4
Xg.30308490C=CA2422040470NR0B1c.874G= (p.Ala292=)
Xg.30308490C>GCA412547484NR0B1c.874G>C (p.Ala292Pro)
Xg.30308490C>TCA412547485NR0B1c.874G>A (p.Ala292Thr)
Xg.30308492delCA2695232184NR0B1c.874del (p.Ala292ArgfsTer?)
Xg.30308491C>ACA412547486NR0B1c.873G>T (p.Trp291Cys)
COSMIC
Xg.30308491C=CA2422040471NR0B1c.873G= (p.Trp291=)
Xg.30308491C>GCA255634NR0B1c.873G>C (p.Trp291Cys)
ClinVar dbSNP
Xg.30308491C>TCA412547488NR0B1c.873G>A (p.Trp291Ter)
Xg.30308492C>ACA412547496NR0B1c.872G>T (p.Trp291Leu)
Xg.30308492C=CA2422040472NR0B1c.872G= (p.Trp291=)
Xg.30308492C>GCA412547493NR0B1c.872G>C (p.Trp291Ser)
ClinVar dbSNP
Xg.30308492C>TCA412547491NR0B1c.872G>A (p.Trp291Ter)
dbSNP gnomAD v2
Xg.30308493A=CA2422040473NR0B1c.871T= (p.Trp291=)
Xg.30308493A>CCA412547501NR0B1c.871T>G (p.Trp291Gly)
Xg.30308493A>GCA412547499NR0B1c.871T>C (p.Trp291Arg)
ClinVar dbSNP
Xg.30308493A>TCA412547502NR0B1c.871T>A (p.Trp291Arg)
Xg.30308493_30308497delCA2693386446NR0B1c.867_871del (p.Asn289LysfsTer8)
gnomAD v4
Xg.30308494G>ACA10376344NR0B1c.870C>T (p.Cys290=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308494G>CCA412547508NR0B1c.870C>G (p.Cys290Trp)
Xg.30308494G=CA2422040474NR0B1c.870C= (p.Cys290=)
Xg.30308494G>TCA412547506NR0B1c.870C>A (p.Cys290Ter)
gnomAD v4
Xg.30308495C>ACA412547510NR0B1c.869G>T (p.Cys290Phe)
gnomAD v4
Xg.30308495C>GCA412547514NR0B1c.869G>C (p.Cys290Ser)
Xg.30308495C>TCA412547512NR0B1c.869G>A (p.Cys290Tyr)
Xg.30308496A>CCA412547517NR0B1c.868T>G (p.Cys290Gly)
Xg.30308496A>GCA412547519NR0B1c.868T>C (p.Cys290Arg)
Xg.30308496A>TCA412547521NR0B1c.868T>A (p.Cys290Ser)
Xg.30308497G>ACA515946303NR0B1c.867C>T (p.Asn289=)
Xg.30308497G>CCA412547523NR0B1c.867C>G (p.Asn289Lys)
Xg.30308497G>TCA412547525NR0B1c.867C>A (p.Asn289Lys)
Xg.30308498T>ACA412547535NR0B1c.866A>T (p.Asn289Ile)
Xg.30308498T>CCA412547537NR0B1c.866A>G (p.Asn289Ser)
dbSNP gnomAD v3 gnomAD v4
Xg.30308498T>GCA412547539NR0B1c.866A>C (p.Asn289Thr)
Xg.30308498T=CA2422040475NR0B1c.866A= (p.Asn289=)
Xg.30308499T>ACA412547542NR0B1c.865A>T (p.Asn289Tyr)
Xg.30308499T>CCA412547544NR0B1c.865A>G (p.Asn289Asp)
Xg.30308499T>GCA412547546NR0B1c.865A>C (p.Asn289His)
Xg.30308501_30308520delCA2695232185NR0B1c.846_865del (p.Gln283LeufsTer9)
Xg.30308500G>ACA515946306NR0B1c.864C>T (p.Arg288=)
Xg.30308500G>CCA515946307NR0B1c.864C>G (p.Arg288=)
Xg.30308500G>TCA515946310NR0B1c.864C>A (p.Arg288=)
Xg.30308501delCA2516699388NR0B1c.863del (p.Arg288ProfsTer?)
Xg.30308501C>ACA412547551NR0B1c.863G>T (p.Arg288Leu)
Xg.30308501C>GCA412547550NR0B1c.863G>C (p.Arg288Pro)
Xg.30308501C>TCA412547548NR0B1c.863G>A (p.Arg288His)
ClinVar gnomAD v4
Xg.30308501_30308507delinsCGCACCACA2422040476NR0B1c.857_863delinsTGGTGCG (p.Leu286=)
Xg.30308502G>ACA412547553NR0B1c.862C>T (p.Arg288Cys)
gnomAD v4
Xg.30308502G>CCA412547555NR0B1c.862C>G (p.Arg288Gly)
Xg.30308502G>TCA412547557NR0B1c.862C>A (p.Arg288Ser)
Xg.30308510_30308515dupCA2695232186NR0B1c.857_862dup (p.Val287_Arg288insLeuVal)
Xg.30308510_30308515delCA913191033NR0B1c.857_862del (p.Leu286_Val287del)
ClinVar dbSNP
Xg.30308503C>ACA515946311NR0B1c.861G>T (p.Val287=)
Xg.30308503C>GCA515946312NR0B1c.861G>C (p.Val287=)
Xg.30308503C>TCA515946314NR0B1c.861G>A (p.Val287=)
Xg.30308503_30308515delCA2541441514NR0B1c.849_861del (p.Gln283HisfsTer?)
Xg.30308504A>CCA412547559NR0B1c.860T>G (p.Val287Gly)
Xg.30308504A>GCA412547561NR0B1c.860T>C (p.Val287Ala)
Xg.30308504A>TCA412547563NR0B1c.860T>A (p.Val287Glu)
Xg.30308505C>ACA412547565NR0B1c.859G>T (p.Val287Leu)
Xg.30308505C>GCA412547567NR0B1c.859G>C (p.Val287Leu)
Xg.30308505C>TCA412547569NR0B1c.859G>A (p.Val287Met)
gnomAD v4
Xg.30308506C>ACA515946318NR0B1c.858G>T (p.Leu286=)
Xg.30308506C=CA2422040477NR0B1c.858G= (p.Leu286=)
Xg.30308506C>GCA515946319NR0B1c.858G>C (p.Leu286=)
Xg.30308506C>TCA515946321NR0B1c.858G>A (p.Leu286=)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.30308507A>CCA412547571NR0B1c.857T>G (p.Leu286Arg)
Xg.30308507A>GCA412547573NR0B1c.857T>C (p.Leu286Pro)
Xg.30308507A>TCA412547575NR0B1c.857T>A (p.Leu286Gln)
Xg.30308508G>ACA515946325NR0B1c.856C>T (p.Leu286=)
gnomAD v4
Xg.30308508G>CCA412547576NR0B1c.856C>G (p.Leu286Val)
Xg.30308508G>TCA412547578NR0B1c.856C>A (p.Leu286Met)
Xg.30308509C>ACA515946326NR0B1c.855G>T (p.Val285=)
Xg.30308509C>GCA515946327NR0B1c.855G>C (p.Val285=)
Xg.30308509C>TCA515946328NR0B1c.855G>A (p.Val285=)
Xg.30308510A>CCA412547581NR0B1c.854T>G (p.Val285Gly)
Xg.30308510A>GCA412547582NR0B1c.854T>C (p.Val285Ala)
Xg.30308510A>TCA412547584NR0B1c.854T>A (p.Val285Glu)
Xg.30308511C>ACA412547586NR0B1c.853G>T (p.Val285Leu)
Xg.30308511C>GCA412547587NR0B1c.853G>C (p.Val285Leu)
Xg.30308511C>TCA412547588NR0B1c.853G>A (p.Val285Met)
Xg.30308512C>ACA515946336NR0B1c.852G>T (p.Leu284=)
Xg.30308512C>GCA515946337NR0B1c.852G>C (p.Leu284=)
Xg.30308512C>TCA515946338NR0B1c.852G>A (p.Leu284=)
Xg.30308516_30308533dupCA2739290473NR0B1c.835_852dup (p.Leu284_Val285insProLeuAspGlnGlnLeu)
Xg.30308513A>CCA412547591NR0B1c.851T>G (p.Leu284Arg)
Xg.30308513A>GCA412547593NR0B1c.851T>C (p.Leu284Pro)
Xg.30308513A>TCA412547594NR0B1c.851T>A (p.Leu284Gln)
Xg.30308514G>ACA327975989NR0B1c.850C>T (p.Leu284=)
dbSNP gnomAD v4
Xg.30308514G>CCA412547596NR0B1c.850C>G (p.Leu284Val)
Xg.30308514G=CA2422040478NR0B1c.850C= (p.Leu284=)
Xg.30308514G>TCA412547599NR0B1c.850C>A (p.Leu284Met)
Xg.30308515C>ACA412547601NR0B1c.849G>T (p.Gln283His)
dbSNP gnomAD v4 COSMIC COSMIC
Xg.30308515C>GCA412547603NR0B1c.849G>C (p.Gln283His)
Xg.30308515C>TCA515946340NR0B1c.849G>A (p.Gln283=)
Xg.30308515_30308516delinsGGCA2695232187NR0B1c.848_849delinsCC (p.Gln283Pro)
Xg.30308516T>ACA412547605NR0B1c.848A>T (p.Gln283Leu)
Xg.30308516T>CCA412547608NR0B1c.848A>G (p.Gln283Arg)
gnomAD v4
Xg.30308516T>GCA16609844NR0B1c.848A>C (p.Gln283Pro)
ClinVar dbSNP
Xg.30308516T=CA2422040479NR0B1c.848A= (p.Gln283=)
Xg.30308517G>ACA255615NR0B1c.847C>T (p.Gln283Ter)
ClinVar dbSNP
Xg.30308517G>CCA412547611NR0B1c.847C>G (p.Gln283Glu)
Xg.30308517G=CA2422040480NR0B1c.847C= (p.Gln283=)
Xg.30308517G>TCA412547614NR0B1c.847C>A (p.Gln283Lys)
Xg.30308518C>ACA412547616NR0B1c.846G>T (p.Gln282His)
gnomAD v4
Xg.30308518C>GCA412547617NR0B1c.846G>C (p.Gln282His)
Xg.30308518C>TCA515946348NR0B1c.846G>A (p.Gln282=)
gnomAD v4
Xg.30308519T>ACA412547618NR0B1c.845A>T (p.Gln282Leu)
Xg.30308519T>CCA412547619NR0B1c.845A>G (p.Gln282Arg)
dbSNP gnomAD v3 gnomAD v4
Xg.30308519T>GCA412547621NR0B1c.845A>C (p.Gln282Pro)
Xg.30308519T=CA2422040481NR0B1c.845A= (p.Gln282=)
Xg.30308520G>ACA412547624NR0B1c.844C>T (p.Gln282Ter)
ClinVar dbSNP
Xg.30308520G>CCA412547625NR0B1c.844C>G (p.Gln282Glu)
dbSNP
Xg.30308520G=CA2422040482NR0B1c.844C= (p.Gln282=)
Xg.30308520G>TCA412547627NR0B1c.844C>A (p.Gln282Lys)
Xg.30308521G>ACA515946356NR0B1c.843C>T (p.Asp281=)
Xg.30308521G>CCA412547631NR0B1c.843C>G (p.Asp281Glu)
Xg.30308521G>TCA412547630NR0B1c.843C>A (p.Asp281Glu)
gnomAD v4
Xg.30308522T>ACA412547635NR0B1c.842A>T (p.Asp281Val)
Xg.30308522T>CCA412547636NR0B1c.842A>G (p.Asp281Gly)
Xg.30308522T>GCA412547638NR0B1c.842A>C (p.Asp281Ala)
Xg.30308523C>ACA412547641NR0B1c.841G>T (p.Asp281Tyr)
gnomAD v4
Xg.30308523C>GCA412547643NR0B1c.841G>C (p.Asp281His)
gnomAD v4
Xg.30308523C>TCA412547645NR0B1c.841G>A (p.Asp281Asn)
COSMIC
Xg.30308524C>ACA515946362NR0B1c.840G>T (p.Leu280=)
Xg.30308524C>GCA515946365NR0B1c.840G>C (p.Leu280=)
gnomAD v4
Xg.30308524C>TCA515946366NR0B1c.840G>A (p.Leu280=)
dbSNP gnomAD v4
Xg.30308525delCA2580100539NR0B1c.839del (p.Leu280ArgfsTer?)
ClinVar
Xg.30308525A>CCA412547648NR0B1c.839T>G (p.Leu280Arg)
Xg.30308525A>GCA412547646NR0B1c.839T>C (p.Leu280Pro)
gnomAD v4
Xg.30308525A>TCA412547647NR0B1c.839T>A (p.Leu280Gln)
Xg.30308526G>ACA515946370NR0B1c.838C>T (p.Leu280=)
Xg.30308526G>CCA412547650NR0B1c.838C>G (p.Leu280Val)
Xg.30308526G>TCA412547652NR0B1c.838C>A (p.Leu280Met)
gnomAD v4
Xg.30308529delCA2695232188NR0B1c.838del (p.Leu280TrpfsTer?)
Xg.30308527G>ACA515946371NR0B1c.837C>T (p.Pro279=)
Xg.30308527G>CCA515946373NR0B1c.837C>G (p.Pro279=)
Xg.30308527G>TCA515946372NR0B1c.837C>A (p.Pro279=)
gnomAD v4
Xg.30308528G>ACA412547655NR0B1c.836C>T (p.Pro279Leu)
Xg.30308528G>CCA412547657NR0B1c.836C>G (p.Pro279Arg)
dbSNP gnomAD v3 gnomAD v4
Xg.30308528G=CA2422040483NR0B1c.836C= (p.Pro279=)
Xg.30308528G>TCA412547659NR0B1c.836C>A (p.Pro279His)
Xg.30308529G>ACA327976003NR0B1c.835C>T (p.Pro279Ser)
dbSNP gnomAD v3 gnomAD v4
Xg.30308529G>CCA412547661NR0B1c.835C>G (p.Pro279Ala)
Xg.30308529G=CA2422040484NR0B1c.835C= (p.Pro279=)
Xg.30308529G>TCA412547663NR0B1c.835C>A (p.Pro279Thr)
dbSNP gnomAD v2 gnomAD v4
Xg.30308532_30308534delCA2695232189NR0B1c.833_835del (p.Leu278del)
Xg.30308530C>ACA515946378NR0B1c.834G>T (p.Leu278=)
Xg.30308530C>GCA515946379NR0B1c.834G>C (p.Leu278=)
Xg.30308530C>TCA515946380NR0B1c.834G>A (p.Leu278=)
gnomAD v4
Xg.30308531A>CCA412547667NR0B1c.833T>G (p.Leu278Arg)
Xg.30308531A>GCA412547668NR0B1c.833T>C (p.Leu278Pro)
ClinVar
Xg.30308531A>TCA412547670NR0B1c.833T>A (p.Leu278Gln)
Xg.30308532G>ACA515946383NR0B1c.832C>T (p.Leu278=)
dbSNP gnomAD v3 gnomAD v4
Xg.30308532G>CCA412547672NR0B1c.832C>G (p.Leu278Val)
Xg.30308532G=CA2422040485NR0B1c.832C= (p.Leu278=)
Xg.30308532G>TCA412547674NR0B1c.832C>A (p.Leu278Met)
gnomAD v4
Xg.30308533delCA2695232190NR0B1c.831del (p.Leu278CysfsTer?)
Xg.30308533C>ACA515946402NR0B1c.831G>T (p.Val277=)
Xg.30308533C=CA2422040486NR0B1c.831G= (p.Val277=)
Xg.30308533C>GCA515946403NR0B1c.831G>C (p.Val277=)
Xg.30308533C>TCA515946404NR0B1c.831G>A (p.Val277=)
dbSNP gnomAD v2
Xg.30308534A>CCA412547677NR0B1c.830T>G (p.Val277Gly)
Xg.30308534A>GCA412547678NR0B1c.830T>C (p.Val277Ala)
Xg.30308534A>TCA412547680NR0B1c.830T>A (p.Val277Glu)
Xg.30308535C>ACA412547682NR0B1c.829G>T (p.Val277Leu)
Xg.30308535C>GCA412547684NR0B1c.829G>C (p.Val277Leu)
Xg.30308535C>TCA412547686NR0B1c.829G>A (p.Val277Met)
Xg.30308536C>ACA412547688NR0B1c.828G>T (p.Gln276His)
Xg.30308536C>GCA412547690NR0B1c.828G>C (p.Gln276His)
Xg.30308536C>TCA515946409NR0B1c.828G>A (p.Gln276=)
ClinVar
Xg.30308537T>ACA412547694NR0B1c.827A>T (p.Gln276Leu)
gnomAD v4
Xg.30308537T>CCA412547700NR0B1c.827A>G (p.Gln276Arg)
dbSNP gnomAD v3 gnomAD v4
Xg.30308537T>GCA412547696NR0B1c.827A>C (p.Gln276Pro)
Xg.30308537T=CA2422040487NR0B1c.827A= (p.Gln276=)
Xg.30308538G>ACA412547703NR0B1c.826C>T (p.Gln276Ter)
Xg.30308538G>CCA412547705NR0B1c.826C>G (p.Gln276Glu)
Xg.30308538G>TCA412547707NR0B1c.826C>A (p.Gln276Lys)
Xg.30308539G>ACA515946411NR0B1c.825C>T (p.Phe275=)
Xg.30308539G>CCA412547709NR0B1c.825C>G (p.Phe275Leu)
Xg.30308539G>TCA412547711NR0B1c.825C>A (p.Phe275Leu)
Xg.30308540A>CCA412547713NR0B1c.824T>G (p.Phe275Cys)
Xg.30308540A>GCA412547715NR0B1c.824T>C (p.Phe275Ser)
Xg.30308540A>TCA412547717NR0B1c.824T>A (p.Phe275Tyr)
Xg.30308541A>CCA412547719NR0B1c.823T>G (p.Phe275Val)
Xg.30308541A>GCA412547722NR0B1c.823T>C (p.Phe275Leu)
Xg.30308541A>TCA412547723NR0B1c.823T>A (p.Phe275Ile)
Xg.30308542G>ACA515946417NR0B1c.822C>T (p.Cys274=)
gnomAD v4
Xg.30308542G>CCA10376345NR0B1c.822C>G (p.Cys274Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.30308542G=CA2422040488NR0B1c.822C= (p.Cys274=)
Xg.30308542G>TCA412547728NR0B1c.822C>A (p.Cys274Ter)
ClinVar dbSNP
Xg.30308543C>ACA412547733NR0B1c.821G>T (p.Cys274Phe)
gnomAD v4
Xg.30308543C>GCA412547730NR0B1c.821G>C (p.Cys274Ser)
Xg.30308543C>TCA412547731NR0B1c.821G>A (p.Cys274Tyr)
gnomAD v4
Xg.30308544A>CCA412547736NR0B1c.820T>G (p.Cys274Gly)
Xg.30308544A>GCA412547738NR0B1c.820T>C (p.Cys274Arg)
Xg.30308544A>TCA412547739NR0B1c.820T>A (p.Cys274Ser)
Xg.30308545G>ACA515946423NR0B1c.819C>T (p.Pro273=)
Xg.30308545G>CCA515946424NR0B1c.819C>G (p.Pro273=)
Xg.30308545G>TCA515946425NR0B1c.819C>A (p.Pro273=)
gnomAD v4
Xg.30308546G>ACA412547742NR0B1c.818C>T (p.Pro273Leu)
Xg.30308546G>CCA412547744NR0B1c.818C>G (p.Pro273Arg)
Xg.30308546G>TCA412547746NR0B1c.818C>A (p.Pro273His)
Xg.30308547G>ACA412547748NR0B1c.817C>T (p.Pro273Ser)
Xg.30308547G>CCA412547750NR0B1c.817C>G (p.Pro273Ala)
Xg.30308547G>TCA412547751NR0B1c.817C>A (p.Pro273Thr)
gnomAD v4
Xg.30308548C>ACA412547753NR0B1c.816G>T (p.Leu272Phe)
Xg.30308548C>GCA412547755NR0B1c.816G>C (p.Leu272Phe)
Xg.30308548C>TCA515946428NR0B1c.816G>A (p.Leu272=)
COSMIC COSMIC
Xg.30308548_30308550delCA2695232191NR0B1c.814_816del (p.Leu272del)
Xg.30308549A>CCA412547761NR0B1c.815T>G (p.Leu272Trp)
Xg.30308549A>GCA412547760NR0B1c.815T>C (p.Leu272Ser)
Xg.30308549A>TCA412547757NR0B1c.815T>A (p.Leu272Ter)
Xg.30308550A>CCA412547764NR0B1c.814T>G (p.Leu272Val)
Xg.30308550A>GCA515946432NR0B1c.814T>C (p.Leu272=)
Xg.30308550A>TCA412547765NR0B1c.814T>A (p.Leu272Met)
Xg.30308551G>ACA515946434NR0B1c.813C>T (p.Tyr271=)
Xg.30308551G>CCA255631NR0B1c.813C>G (p.Tyr271Ter)
ClinVar dbSNP
Xg.30308551G=CA2422040489NR0B1c.813C= (p.Tyr271=)
Xg.30308551G>TCA412547768NR0B1c.813C>A (p.Tyr271Ter)
Xg.30308552T>ACA412547770NR0B1c.812A>T (p.Tyr271Phe)
Xg.30308552T>CCA412547772NR0B1c.812A>G (p.Tyr271Cys)
Xg.30308552T>GCA412547773NR0B1c.812A>C (p.Tyr271Ser)
Xg.30308553A>CCA412547775NR0B1c.811T>G (p.Tyr271Asp)
Xg.30308553A>GCA412547777NR0B1c.811T>C (p.Tyr271His)
Xg.30308553A>TCA412547779NR0B1c.811T>A (p.Tyr271Asn)
Xg.30308554C>ACA412547781NR0B1c.810G>T (p.Lys270Asn)
Xg.30308554C>GCA412547782NR0B1c.810G>C (p.Lys270Asn)
Xg.30308554C>TCA515946444NR0B1c.810G>A (p.Lys270=)
gnomAD v4
Xg.30308555T>ACA412547785NR0B1c.809A>T (p.Lys270Met)
Xg.30308555T>CCA412547788NR0B1c.809A>G (p.Lys270Arg)
dbSNP gnomAD v2 gnomAD v4
Xg.30308555T>GCA412547790NR0B1c.809A>C (p.Lys270Thr)
Xg.30308555T=CA2422040490NR0B1c.809A= (p.Lys270=)
Xg.30308556T>ACA412547796NR0B1c.808A>T (p.Lys270Ter)
Xg.30308556T>CCA412547794NR0B1c.808A>G (p.Lys270Glu)
Xg.30308556T>GCA412547792NR0B1c.808A>C (p.Lys270Gln)
Xg.30308557G>ACA515946449NR0B1c.807C>T (p.Val269=)
Xg.30308557G>CCA515946448NR0B1c.807C>G (p.Val269=)
Xg.30308557G>TCA515946447NR0B1c.807C>A (p.Val269=)
Xg.30308559_30308561delCA2695232192NR0B1c.805_807del (p.Val269del)
Xg.30308558A=CA2422040491NR0B1c.806T= (p.Val269=)
Xg.30308558A>CCA412547798NR0B1c.806T>G (p.Val269Gly)
ClinVar dbSNP
Xg.30308558A>GCA412547800NR0B1c.806T>C (p.Val269Ala)
Xg.30308558A>TCA412547801NR0B1c.806T>A (p.Val269Asp)
ClinVar dbSNP gnomAD v4
Xg.30308559C>ACA412547803NR0B1c.805G>T (p.Val269Phe)
Xg.30308559C=CA2422040492NR0B1c.805G= (p.Val269=)
Xg.30308559C>GCA10376346NR0B1c.805G>C (p.Val269Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308559C>TCA412547805NR0B1c.805G>A (p.Val269Ile)
gnomAD v4
Xg.30308560G>ACA10376347NR0B1c.804C>T (p.Phe268=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308560G>CCA412547809NR0B1c.804C>G (p.Phe268Leu)
Xg.30308560G=CA2422040493NR0B1c.804C= (p.Phe268=)
Xg.30308560G>TCA412547811NR0B1c.804C>A (p.Phe268Leu)
gnomAD v4
Xg.30308561A>CCA412547814NR0B1c.803T>G (p.Phe268Cys)
Xg.30308561A>GCA412547815NR0B1c.803T>C (p.Phe268Ser)
Xg.30308561A>TCA412547818NR0B1c.803T>A (p.Phe268Tyr)
Xg.30308562A>CCA412547823NR0B1c.802T>G (p.Phe268Val)
Xg.30308562A>GCA412547825NR0B1c.802T>C (p.Phe268Leu)
Xg.30308562A>TCA412547820NR0B1c.802T>A (p.Phe268Ile)
Xg.30308563G>ACA515945989NR0B1c.801C>T (p.Arg267=)
ClinVar
Xg.30308563G>CCA515945991NR0B1c.801C>G (p.Arg267=)
Xg.30308563G>TCA515945990NR0B1c.801C>A (p.Arg267=)
Xg.30308564C>ACA412547828NR0B1c.800G>T (p.Arg267Leu)
gnomAD v4
Xg.30308564C=CA2422039885NR0B1c.800G= (p.Arg267=)
Xg.30308564C>GCA255621NR0B1c.800G>C (p.Arg267Pro)
ClinVar dbSNP
Xg.30308564C>TCA412547830NR0B1c.800G>A (p.Arg267His)
dbSNP gnomAD v2 gnomAD v4
Xg.30308565G>ACA412547833NR0B1c.799C>T (p.Arg267Cys)
gnomAD v4 COSMIC
Xg.30308565G>CCA412547834NR0B1c.799C>G (p.Arg267Gly)
Xg.30308565G>TCA412547836NR0B1c.799C>A (p.Arg267Ser)
Xg.30308566C>ACA515945995NR0B1c.798G>T (p.Leu266=)
Xg.30308566C=CA2422039886NR0B1c.798G= (p.Leu266=)
Xg.30308566C>GCA10376348NR0B1c.798G>C (p.Leu266=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308566C>TCA515945997NR0B1c.798G>A (p.Leu266=)
Xg.30308567A>CCA412547839NR0B1c.797T>G (p.Leu266Arg)
Xg.30308567A>GCA412547841NR0B1c.797T>C (p.Leu266Pro)
ClinVar dbSNP
Xg.30308567A>TCA412547843NR0B1c.797T>A (p.Leu266Gln)
Xg.30308568G>ACA515946003NR0B1c.796C>T (p.Leu266=)
Xg.30308568G>CCA412547844NR0B1c.796C>G (p.Leu266Val)
gnomAD v4
Xg.30308568G>TCA412547845NR0B1c.796C>A (p.Leu266Met)
Xg.30308569C>ACA515946005NR0B1c.795G>T (p.Thr265=)
Xg.30308569C>GCA515946006NR0B1c.795G>C (p.Thr265=)
gnomAD v4
Xg.30308569C>TCA515946008NR0B1c.795G>A (p.Thr265=)
gnomAD v4
Xg.30308570G>ACA412547848NR0B1c.794C>T (p.Thr265Met)
dbSNP gnomAD v2 COSMIC COSMIC
Xg.30308570G>CCA412547850NR0B1c.794C>G (p.Thr265Arg)
Xg.30308570G=CA2422039887NR0B1c.794C= (p.Thr265=)
Xg.30308570G>TCA412547846NR0B1c.794C>A (p.Thr265Lys)
gnomAD v4
Xg.30308570_30308571insGCCA2695232195NR0B1c.793_794insGC (p.Thr265SerfsTer?)
Xg.30308571delCA2695232194NR0B1c.793del (p.Thr265ArgfsTer?)
Xg.30308571T>ACA412547852NR0B1c.793A>T (p.Thr265Ser)
Xg.30308571T>CCA412547854NR0B1c.793A>G (p.Thr265Ala)
Xg.30308571T>GCA412547856NR0B1c.793A>C (p.Thr265Pro)
Xg.30308573_30308575delCA2695232193NR0B1c.791_793del (p.Lys264del)
Xg.30308572C>ACA412547858NR0B1c.792G>T (p.Lys264Asn)
Xg.30308572C>GCA412547860NR0B1c.792G>C (p.Lys264Asn)
Xg.30308572C>TCA515946023NR0B1c.792G>A (p.Lys264=)
Xg.30308573T>ACA412547865NR0B1c.791A>T (p.Lys264Met)
Xg.30308573T>CCA412547861NR0B1c.791A>G (p.Lys264Arg)
gnomAD v4
Xg.30308573T>GCA412547863NR0B1c.791A>C (p.Lys264Thr)
Xg.30308574T>ACA412547867NR0B1c.790A>T (p.Lys264Ter)
Xg.30308574T>CCA412547868NR0B1c.790A>G (p.Lys264Glu)
Xg.30308574T>GCA412547869NR0B1c.790A>C (p.Lys264Gln)
Xg.30308575C>ACA412547870NR0B1c.789G>T (p.Leu263Phe)
Xg.30308575C>GCA412547871NR0B1c.789G>C (p.Leu263Phe)
Xg.30308575C>TCA515946027NR0B1c.789G>A (p.Leu263=)
Xg.30308576A=CA2422039889NR0B1c.788T= (p.Leu263=)
Xg.30308576A>CCA412547875NR0B1c.788T>G (p.Leu263Trp)
Xg.30308576A>GCA412547873NR0B1c.788T>C (p.Leu263Ser)
Xg.30308576A>TCA255619NR0B1c.788T>A (p.Leu263Ter)
ClinVar dbSNP
Xg.30308577A>CCA412547877NR0B1c.787T>G (p.Leu263Val)
Xg.30308577A>GCA515946033NR0B1c.787T>C (p.Leu263=)
Xg.30308577A>TCA412547879NR0B1c.787T>A (p.Leu263Met)
Xg.30308578C>ACA515946035NR0B1c.786G>T (p.Leu262=)
Xg.30308578C>GCA515946036NR0B1c.786G>C (p.Leu262=)
Xg.30308578C>TCA515946040NR0B1c.786G>A (p.Leu262=)
Xg.30308579A=CA2422039890NR0B1c.785T= (p.Leu262=)
Xg.30308579A>CCA412547882NR0B1c.785T>G (p.Leu262Arg)
ClinVar dbSNP
Xg.30308579A>GCA412547884NR0B1c.785T>C (p.Leu262Pro)
Xg.30308579A>TCA412547885NR0B1c.785T>A (p.Leu262Gln)
Xg.30308580G>ACA515946047NR0B1c.784C>T (p.Leu262=)
dbSNP gnomAD v2 gnomAD v4
Xg.30308580G>CCA412547888NR0B1c.784C>G (p.Leu262Val)
Xg.30308580G=CA2422039891NR0B1c.784C= (p.Leu262=)
Xg.30308580G>TCA412547889NR0B1c.784C>A (p.Leu262Met)
Xg.30308581G>ACA515946049NR0B1c.783C>T (p.Gly261=)
Xg.30308581G>CCA515946051NR0B1c.783C>G (p.Gly261=)
Xg.30308581G>TCA515946054NR0B1c.783C>A (p.Gly261=)
Xg.30308582C>ACA412547890NR0B1c.782G>T (p.Gly261Val)
Xg.30308582C>GCA412547891NR0B1c.782G>C (p.Gly261Ala)
Xg.30308582C>TCA412547893NR0B1c.782G>A (p.Gly261Asp)
Xg.30308583C>ACA412547894NR0B1c.781G>T (p.Gly261Cys)
Xg.30308583C>GCA412547896NR0B1c.781G>C (p.Gly261Arg)
Xg.30308583C>TCA412547898NR0B1c.781G>A (p.Gly261Ser)
Xg.30308584C>ACA10376349NR0B1c.780G>T (p.Ala260=)
dbSNP ExAC gnomAD v2
Xg.30308584C=CA2422039892NR0B1c.780G= (p.Ala260=)
Xg.30308584C>GCA10376350NR0B1c.780G>C (p.Ala260=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.30308584C>TCA515946066NR0B1c.780G>A (p.Ala260=)
ClinVar

Number of alleles fetched