Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.119415185G>A | CA2554176 | ARHGAP31 | c.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 |
3 | g.119415185G>C | CA354057341 | ARHGAP31 | c.3256G>C (p.Ala1086Pro) c.3163G>C (p.Ala1055Pro) c.3196G>C (p.Ala1066Pro) c.2764G>C (p.Ala922Pro) | |
3 | g.119415185G= | CA1396548986 | ARHGAP31 | c.3256G= (p.Ala1086=) c.3163G= (p.Ala1055=) c.3196G= (p.Ala1066=) c.2764G= (p.Ala922=) | |
3 | g.119415185G>T | CA354057344 | ARHGAP31 | c.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 |
3 | g.119415186C>A | CA354057354 | ARHGAP31 | c.3257C>A (p.Ala1086Glu) c.3164C>A (p.Ala1055Glu) c.3197C>A (p.Ala1066Glu) c.2765C>A (p.Ala922Glu) | |
3 | g.119415186C>G | CA354057352 | ARHGAP31 | c.3257C>G (p.Ala1086Gly) c.3164C>G (p.Ala1055Gly) c.3197C>G (p.Ala1066Gly) c.2765C>G (p.Ala922Gly) | |
3 | g.119415186C>T | CA354057350 | ARHGAP31 | c.3257C>T (p.Ala1086Val) c.3164C>T (p.Ala1055Val) c.3197C>T (p.Ala1066Val) c.2765C>T (p.Ala922Val) | |
3 | g.119415186_119415187del | CA2758107662 | ARHGAP31 | c.3257_3258del (p.Ala1086GlufsTer?) c.3164_3165del (p.Ala1055GlufsTer?) c.3197_3198del (p.Ala1066GlufsTer?) c.2765_2766del (p.Ala922GlufsTer?) | |
3 | g.119415186_119415187delinsCA | CA1396548987 | ARHGAP31 | c.3257_3258delinsCA (p.Ala1086=) c.3164_3165delinsCA (p.Ala1055=) c.3197_3198delinsCA (p.Ala1066=) c.2765_2766delinsCA (p.Ala922=) | |
3 | g.119415187A>C | CA435412242 | ARHGAP31 | c.3258A>C (p.Ala1086=) c.3165A>C (p.Ala1055=) c.3198A>C (p.Ala1066=) c.2766A>C (p.Ala922=) | |
3 | g.119415187A>G | CA435412244 | ARHGAP31 | c.3258A>G (p.Ala1086=) c.3165A>G (p.Ala1055=) c.3198A>G (p.Ala1066=) c.2766A>G (p.Ala922=) | |
3 | g.119415187A>T | CA435412246 | ARHGAP31 | c.3258A>T (p.Ala1086=) c.3165A>T (p.Ala1055=) c.3198A>T (p.Ala1066=) c.2766A>T (p.Ala922=) | |
3 | g.119415189del | CA658655576 | ARHGAP31 | c.3260del (p.Lys1087SerfsTer4) c.3167del (p.Lys1056SerfsTer4) c.3200del (p.Lys1067SerfsTer4) c.2768del (p.Lys923SerfsTer4) | ClinVar dbSNP gnomAD v4 |
3 | g.119415188A>C | CA354057355 | ARHGAP31 | c.3259A>C (p.Lys1087Gln) c.3166A>C (p.Lys1056Gln) c.3199A>C (p.Lys1067Gln) c.2767A>C (p.Lys923Gln) | |
3 | g.119415188A>G | CA354057356 | ARHGAP31 | c.3259A>G (p.Lys1087Glu) c.3166A>G (p.Lys1056Glu) c.3199A>G (p.Lys1067Glu) c.2767A>G (p.Lys923Glu) | |
3 | g.119415188A>T | CA354057358 | ARHGAP31 | c.3259A>T (p.Lys1087Ter) c.3166A>T (p.Lys1056Ter) c.3199A>T (p.Lys1067Ter) c.2767A>T (p.Lys923Ter) | |
3 | g.119415189A>C | CA354057361 | ARHGAP31 | c.3260A>C (p.Lys1087Thr) c.3167A>C (p.Lys1056Thr) c.3200A>C (p.Lys1067Thr) c.2768A>C (p.Lys923Thr) | |
3 | g.119415189A>G | CA354057365 | ARHGAP31 | c.3260A>G (p.Lys1087Arg) c.3167A>G (p.Lys1056Arg) c.3200A>G (p.Lys1067Arg) c.2768A>G (p.Lys923Arg) | |
3 | g.119415189A>T | CA354057368 | ARHGAP31 | c.3260A>T (p.Lys1087Met) c.3167A>T (p.Lys1056Met) c.3200A>T (p.Lys1067Met) c.2768A>T (p.Lys923Met) | |
3 | g.119415190G>A | CA435412251 | ARHGAP31 | c.3261G>A (p.Lys1087=) c.3168G>A (p.Lys1056=) c.3201G>A (p.Lys1067=) c.2769G>A (p.Lys923=) | |
3 | g.119415190G>C | CA354057370 | ARHGAP31 | c.3261G>C (p.Lys1087Asn) c.3168G>C (p.Lys1056Asn) c.3201G>C (p.Lys1067Asn) c.2769G>C (p.Lys923Asn) | |
3 | g.119415190G>T | CA354057373 | ARHGAP31 | c.3261G>T (p.Lys1087Asn) c.3168G>T (p.Lys1056Asn) c.3201G>T (p.Lys1067Asn) c.2769G>T (p.Lys923Asn) | |
3 | g.119415191T>A | CA354057377 | ARHGAP31 | c.3262T>A (p.Leu1088Ile) c.3169T>A (p.Leu1057Ile) c.3202T>A (p.Leu1068Ile) c.2770T>A (p.Leu924Ile) | |
3 | g.119415191T>C | CA435412252 | ARHGAP31 | c.3262T>C (p.Leu1088=) c.3169T>C (p.Leu1057=) c.3202T>C (p.Leu1068=) c.2770T>C (p.Leu924=) | |
3 | g.119415191T>G | CA354057380 | ARHGAP31 | c.3262T>G (p.Leu1088Val) c.3169T>G (p.Leu1057Val) c.3202T>G (p.Leu1068Val) c.2770T>G (p.Leu924Val) | |
3 | g.119415192T>A | CA354057383 | ARHGAP31 | c.3263T>A (p.Leu1088Ter) c.3170T>A (p.Leu1057Ter) c.3203T>A (p.Leu1068Ter) c.2771T>A (p.Leu924Ter) | |
3 | g.119415192T>C | CA354057384 | ARHGAP31 | c.3263T>C (p.Leu1088Ser) c.3170T>C (p.Leu1057Ser) c.3203T>C (p.Leu1068Ser) c.2771T>C (p.Leu924Ser) | |
3 | g.119415192T>G | CA354057385 | ARHGAP31 | c.3263T>G (p.Leu1088Ter) c.3170T>G (p.Leu1057Ter) c.3203T>G (p.Leu1068Ter) c.2771T>G (p.Leu924Ter) | |
3 | g.119415192T= | CA1396548988 | ARHGAP31 | c.3263T= (p.Leu1088=) c.3170T= (p.Leu1057=) c.3203T= (p.Leu1068=) c.2771T= (p.Leu924=) | |
3 | g.119415193A>C | CA354057387 | ARHGAP31 | c.3264A>C (p.Leu1088Phe) c.3171A>C (p.Leu1057Phe) c.3204A>C (p.Leu1068Phe) c.2772A>C (p.Leu924Phe) | |
3 | g.119415193A>G | CA435412259 | ARHGAP31 | c.3264A>G (p.Leu1088=) c.3171A>G (p.Leu1057=) c.3204A>G (p.Leu1068=) c.2772A>G (p.Leu924=) | |
3 | g.119415193A>T | CA354057386 | ARHGAP31 | c.3264A>T (p.Leu1088Phe) c.3171A>T (p.Leu1057Phe) c.3204A>T (p.Leu1068Phe) c.2772A>T (p.Leu924Phe) | |
3 | g.119415193dup | CA545960946 | ARHGAP31 | c.3264dup (p.Gln1089ThrfsTer29) c.3171dup (p.Gln1058ThrfsTer29) c.3204dup (p.Gln1069ThrfsTer29) c.2772dup (p.Gln925ThrfsTer29) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119415194C>A | CA354057389 | ARHGAP31 | c.3265C>A (p.Gln1089Lys) c.3172C>A (p.Gln1058Lys) c.3205C>A (p.Gln1069Lys) c.2773C>A (p.Gln925Lys) | dbSNP |
3 | g.119415194C= | CA1396548989 | ARHGAP31 | c.3265C= (p.Gln1089=) c.3172C= (p.Gln1058=) c.3205C= (p.Gln1069=) c.2773C= (p.Gln925=) | |
3 | g.119415194C>G | CA354057390 | ARHGAP31 | c.3265C>G (p.Gln1089Glu) c.3172C>G (p.Gln1058Glu) c.3205C>G (p.Gln1069Glu) c.2773C>G (p.Gln925Glu) | |
3 | g.119415194C>T | CA354057392 | ARHGAP31 | c.3265C>T (p.Gln1089Ter) c.3172C>T (p.Gln1058Ter) c.3205C>T (p.Gln1069Ter) c.2773C>T (p.Gln925Ter) | |
3 | g.119415195A>C | CA354057397 | ARHGAP31 | c.3266A>C (p.Gln1089Pro) c.3173A>C (p.Gln1058Pro) c.3206A>C (p.Gln1069Pro) c.2774A>C (p.Gln925Pro) | |
3 | g.119415195A>G | CA354057399 | ARHGAP31 | c.3266A>G (p.Gln1089Arg) c.3173A>G (p.Gln1058Arg) c.3206A>G (p.Gln1069Arg) c.2774A>G (p.Gln925Arg) | |
3 | g.119415195A>T | CA354057402 | ARHGAP31 | c.3266A>T (p.Gln1089Leu) c.3173A>T (p.Gln1058Leu) c.3206A>T (p.Gln1069Leu) c.2774A>T (p.Gln925Leu) | |
3 | g.119415195dup | CA545960947 | ARHGAP31 | c.3266dup (p.Leu1090AlafsTer28) c.3173dup (p.Leu1059AlafsTer28) c.3206dup (p.Leu1070AlafsTer28) c.2774dup (p.Leu926AlafsTer28) | dbSNP gnomAD v2 |
3 | g.119415196G>A | CA81698262 | ARHGAP31 | c.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 |
3 | g.119415196G>C | CA354057408 | ARHGAP31 | c.3267G>C (p.Gln1089His) c.3174G>C (p.Gln1058His) c.3207G>C (p.Gln1069His) c.2775G>C (p.Gln925His) | |
3 | g.119415196G= | CA1396548990 | ARHGAP31 | c.3267G= (p.Gln1089=) c.3174G= (p.Gln1058=) c.3207G= (p.Gln1069=) c.2775G= (p.Gln925=) | |
3 | g.119415196G>T | CA354057411 | ARHGAP31 | c.3267G>T (p.Gln1089His) c.3174G>T (p.Gln1058His) c.3207G>T (p.Gln1069His) c.2775G>T (p.Gln925His) | |
3 | g.119415197C>A | CA354057412 | ARHGAP31 | c.3268C>A (p.Leu1090Ile) c.3175C>A (p.Leu1059Ile) c.3208C>A (p.Leu1070Ile) c.2776C>A (p.Leu926Ile) | COSMIC |
3 | g.119415197C>G | CA354057413 | ARHGAP31 | c.3268C>G (p.Leu1090Val) c.3175C>G (p.Leu1059Val) c.3208C>G (p.Leu1070Val) c.2776C>G (p.Leu926Val) | |
3 | g.119415197C>T | CA435412270 | ARHGAP31 | c.3268C>T (p.Leu1090=) c.3175C>T (p.Leu1059=) c.3208C>T (p.Leu1070=) c.2776C>T (p.Leu926=) | |
3 | g.119415198T>A | CA354057416 | ARHGAP31 | c.3269T>A (p.Leu1090Gln) c.3176T>A (p.Leu1059Gln) c.3209T>A (p.Leu1070Gln) c.2777T>A (p.Leu926Gln) | |
3 | g.119415198T>C | CA354057419 | ARHGAP31 | c.3269T>C (p.Leu1090Pro) c.3176T>C (p.Leu1059Pro) c.3209T>C (p.Leu1070Pro) c.2777T>C (p.Leu926Pro) |