Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.119415185G>ACA2554176ARHGAP31c.3256G>A (p.Ala1086Thr)
c.3163G>A (p.Ala1055Thr)
c.3196G>A (p.Ala1066Thr)
c.2764G>A (p.Ala922Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.119415185G>CCA354057341ARHGAP31c.3256G>C (p.Ala1086Pro)
c.3163G>C (p.Ala1055Pro)
c.3196G>C (p.Ala1066Pro)
c.2764G>C (p.Ala922Pro)
3g.119415185G=CA1396548986ARHGAP31c.3256G= (p.Ala1086=)
c.3163G= (p.Ala1055=)
c.3196G= (p.Ala1066=)
c.2764G= (p.Ala922=)
3g.119415185G>TCA354057344ARHGAP31c.3256G>T (p.Ala1086Ser)
c.3163G>T (p.Ala1055Ser)
c.3196G>T (p.Ala1066Ser)
c.2764G>T (p.Ala922Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.119415186C>ACA354057354ARHGAP31c.3257C>A (p.Ala1086Glu)
c.3164C>A (p.Ala1055Glu)
c.3197C>A (p.Ala1066Glu)
c.2765C>A (p.Ala922Glu)
3g.119415186C>GCA354057352ARHGAP31c.3257C>G (p.Ala1086Gly)
c.3164C>G (p.Ala1055Gly)
c.3197C>G (p.Ala1066Gly)
c.2765C>G (p.Ala922Gly)
3g.119415186C>TCA354057350ARHGAP31c.3257C>T (p.Ala1086Val)
c.3164C>T (p.Ala1055Val)
c.3197C>T (p.Ala1066Val)
c.2765C>T (p.Ala922Val)
3g.119415186_119415187delCA2758107662ARHGAP31c.3257_3258del (p.Ala1086GlufsTer?)
c.3164_3165del (p.Ala1055GlufsTer?)
c.3197_3198del (p.Ala1066GlufsTer?)
c.2765_2766del (p.Ala922GlufsTer?)
3g.119415186_119415187delinsCACA1396548987ARHGAP31c.3257_3258delinsCA (p.Ala1086=)
c.3164_3165delinsCA (p.Ala1055=)
c.3197_3198delinsCA (p.Ala1066=)
c.2765_2766delinsCA (p.Ala922=)
3g.119415187A>CCA435412242ARHGAP31c.3258A>C (p.Ala1086=)
c.3165A>C (p.Ala1055=)
c.3198A>C (p.Ala1066=)
c.2766A>C (p.Ala922=)
3g.119415187A>GCA435412244ARHGAP31c.3258A>G (p.Ala1086=)
c.3165A>G (p.Ala1055=)
c.3198A>G (p.Ala1066=)
c.2766A>G (p.Ala922=)
3g.119415187A>TCA435412246ARHGAP31c.3258A>T (p.Ala1086=)
c.3165A>T (p.Ala1055=)
c.3198A>T (p.Ala1066=)
c.2766A>T (p.Ala922=)
3g.119415189delCA658655576ARHGAP31c.3260del (p.Lys1087SerfsTer4)
c.3167del (p.Lys1056SerfsTer4)
c.3200del (p.Lys1067SerfsTer4)
c.2768del (p.Lys923SerfsTer4)
ClinVar dbSNP gnomAD v4
3g.119415188A>CCA354057355ARHGAP31c.3259A>C (p.Lys1087Gln)
c.3166A>C (p.Lys1056Gln)
c.3199A>C (p.Lys1067Gln)
c.2767A>C (p.Lys923Gln)
3g.119415188A>GCA354057356ARHGAP31c.3259A>G (p.Lys1087Glu)
c.3166A>G (p.Lys1056Glu)
c.3199A>G (p.Lys1067Glu)
c.2767A>G (p.Lys923Glu)
3g.119415188A>TCA354057358ARHGAP31c.3259A>T (p.Lys1087Ter)
c.3166A>T (p.Lys1056Ter)
c.3199A>T (p.Lys1067Ter)
c.2767A>T (p.Lys923Ter)
3g.119415189A>CCA354057361ARHGAP31c.3260A>C (p.Lys1087Thr)
c.3167A>C (p.Lys1056Thr)
c.3200A>C (p.Lys1067Thr)
c.2768A>C (p.Lys923Thr)
3g.119415189A>GCA354057365ARHGAP31c.3260A>G (p.Lys1087Arg)
c.3167A>G (p.Lys1056Arg)
c.3200A>G (p.Lys1067Arg)
c.2768A>G (p.Lys923Arg)
3g.119415189A>TCA354057368ARHGAP31c.3260A>T (p.Lys1087Met)
c.3167A>T (p.Lys1056Met)
c.3200A>T (p.Lys1067Met)
c.2768A>T (p.Lys923Met)
3g.119415190G>ACA435412251ARHGAP31c.3261G>A (p.Lys1087=)
c.3168G>A (p.Lys1056=)
c.3201G>A (p.Lys1067=)
c.2769G>A (p.Lys923=)
3g.119415190G>CCA354057370ARHGAP31c.3261G>C (p.Lys1087Asn)
c.3168G>C (p.Lys1056Asn)
c.3201G>C (p.Lys1067Asn)
c.2769G>C (p.Lys923Asn)
3g.119415190G>TCA354057373ARHGAP31c.3261G>T (p.Lys1087Asn)
c.3168G>T (p.Lys1056Asn)
c.3201G>T (p.Lys1067Asn)
c.2769G>T (p.Lys923Asn)
3g.119415191T>ACA354057377ARHGAP31c.3262T>A (p.Leu1088Ile)
c.3169T>A (p.Leu1057Ile)
c.3202T>A (p.Leu1068Ile)
c.2770T>A (p.Leu924Ile)
3g.119415191T>CCA435412252ARHGAP31c.3262T>C (p.Leu1088=)
c.3169T>C (p.Leu1057=)
c.3202T>C (p.Leu1068=)
c.2770T>C (p.Leu924=)
3g.119415191T>GCA354057380ARHGAP31c.3262T>G (p.Leu1088Val)
c.3169T>G (p.Leu1057Val)
c.3202T>G (p.Leu1068Val)
c.2770T>G (p.Leu924Val)
3g.119415192T>ACA354057383ARHGAP31c.3263T>A (p.Leu1088Ter)
c.3170T>A (p.Leu1057Ter)
c.3203T>A (p.Leu1068Ter)
c.2771T>A (p.Leu924Ter)
3g.119415192T>CCA354057384ARHGAP31c.3263T>C (p.Leu1088Ser)
c.3170T>C (p.Leu1057Ser)
c.3203T>C (p.Leu1068Ser)
c.2771T>C (p.Leu924Ser)
3g.119415192T>GCA354057385ARHGAP31c.3263T>G (p.Leu1088Ter)
c.3170T>G (p.Leu1057Ter)
c.3203T>G (p.Leu1068Ter)
c.2771T>G (p.Leu924Ter)
3g.119415192T=CA1396548988ARHGAP31c.3263T= (p.Leu1088=)
c.3170T= (p.Leu1057=)
c.3203T= (p.Leu1068=)
c.2771T= (p.Leu924=)
3g.119415193A>CCA354057387ARHGAP31c.3264A>C (p.Leu1088Phe)
c.3171A>C (p.Leu1057Phe)
c.3204A>C (p.Leu1068Phe)
c.2772A>C (p.Leu924Phe)
3g.119415193A>GCA435412259ARHGAP31c.3264A>G (p.Leu1088=)
c.3171A>G (p.Leu1057=)
c.3204A>G (p.Leu1068=)
c.2772A>G (p.Leu924=)
3g.119415193A>TCA354057386ARHGAP31c.3264A>T (p.Leu1088Phe)
c.3171A>T (p.Leu1057Phe)
c.3204A>T (p.Leu1068Phe)
c.2772A>T (p.Leu924Phe)
3g.119415193dupCA545960946ARHGAP31c.3264dup (p.Gln1089ThrfsTer29)
c.3171dup (p.Gln1058ThrfsTer29)
c.3204dup (p.Gln1069ThrfsTer29)
c.2772dup (p.Gln925ThrfsTer29)
dbSNP gnomAD v2 gnomAD v4
3g.119415194C>ACA354057389ARHGAP31c.3265C>A (p.Gln1089Lys)
c.3172C>A (p.Gln1058Lys)
c.3205C>A (p.Gln1069Lys)
c.2773C>A (p.Gln925Lys)
dbSNP
3g.119415194C=CA1396548989ARHGAP31c.3265C= (p.Gln1089=)
c.3172C= (p.Gln1058=)
c.3205C= (p.Gln1069=)
c.2773C= (p.Gln925=)
3g.119415194C>GCA354057390ARHGAP31c.3265C>G (p.Gln1089Glu)
c.3172C>G (p.Gln1058Glu)
c.3205C>G (p.Gln1069Glu)
c.2773C>G (p.Gln925Glu)
3g.119415194C>TCA354057392ARHGAP31c.3265C>T (p.Gln1089Ter)
c.3172C>T (p.Gln1058Ter)
c.3205C>T (p.Gln1069Ter)
c.2773C>T (p.Gln925Ter)
3g.119415195A>CCA354057397ARHGAP31c.3266A>C (p.Gln1089Pro)
c.3173A>C (p.Gln1058Pro)
c.3206A>C (p.Gln1069Pro)
c.2774A>C (p.Gln925Pro)
3g.119415195A>GCA354057399ARHGAP31c.3266A>G (p.Gln1089Arg)
c.3173A>G (p.Gln1058Arg)
c.3206A>G (p.Gln1069Arg)
c.2774A>G (p.Gln925Arg)
3g.119415195A>TCA354057402ARHGAP31c.3266A>T (p.Gln1089Leu)
c.3173A>T (p.Gln1058Leu)
c.3206A>T (p.Gln1069Leu)
c.2774A>T (p.Gln925Leu)
3g.119415195dupCA545960947ARHGAP31c.3266dup (p.Leu1090AlafsTer28)
c.3173dup (p.Leu1059AlafsTer28)
c.3206dup (p.Leu1070AlafsTer28)
c.2774dup (p.Leu926AlafsTer28)
dbSNP gnomAD v2
3g.119415196G>ACA81698262ARHGAP31c.3267G>A (p.Gln1089=)
c.3174G>A (p.Gln1058=)
c.3207G>A (p.Gln1069=)
c.2775G>A (p.Gln925=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.119415196G>CCA354057408ARHGAP31c.3267G>C (p.Gln1089His)
c.3174G>C (p.Gln1058His)
c.3207G>C (p.Gln1069His)
c.2775G>C (p.Gln925His)
3g.119415196G=CA1396548990ARHGAP31c.3267G= (p.Gln1089=)
c.3174G= (p.Gln1058=)
c.3207G= (p.Gln1069=)
c.2775G= (p.Gln925=)
3g.119415196G>TCA354057411ARHGAP31c.3267G>T (p.Gln1089His)
c.3174G>T (p.Gln1058His)
c.3207G>T (p.Gln1069His)
c.2775G>T (p.Gln925His)
3g.119415197C>ACA354057412ARHGAP31c.3268C>A (p.Leu1090Ile)
c.3175C>A (p.Leu1059Ile)
c.3208C>A (p.Leu1070Ile)
c.2776C>A (p.Leu926Ile)
COSMIC
3g.119415197C>GCA354057413ARHGAP31c.3268C>G (p.Leu1090Val)
c.3175C>G (p.Leu1059Val)
c.3208C>G (p.Leu1070Val)
c.2776C>G (p.Leu926Val)
3g.119415197C>TCA435412270ARHGAP31c.3268C>T (p.Leu1090=)
c.3175C>T (p.Leu1059=)
c.3208C>T (p.Leu1070=)
c.2776C>T (p.Leu926=)
3g.119415198T>ACA354057416ARHGAP31c.3269T>A (p.Leu1090Gln)
c.3176T>A (p.Leu1059Gln)
c.3209T>A (p.Leu1070Gln)
c.2777T>A (p.Leu926Gln)
3g.119415198T>CCA354057419ARHGAP31c.3269T>C (p.Leu1090Pro)
c.3176T>C (p.Leu1059Pro)
c.3209T>C (p.Leu1070Pro)
c.2777T>C (p.Leu926Pro)

Number of alleles fetched