Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.125043827T>A | CA372186898 | WASHC5,WASHC5-AS1 | c.2848A>T (p.Lys950Ter) c.2404A>T (p.Lys802Ter) n.97-672T>A | |
8 | g.125043827T>C | CA372186895 | WASHC5,WASHC5-AS1 | c.2848A>G (p.Lys950Glu) c.2404A>G (p.Lys802Glu) n.97-672T>C | |
8 | g.125043827T>G | CA372186891 | WASHC5,WASHC5-AS1 | c.2848A>C (p.Lys950Gln) c.2404A>C (p.Lys802Gln) n.97-672T>G | |
8 | g.125043828C>A | CA372186903 | WASHC5,WASHC5-AS1 | c.2847G>T (p.Met949Ile) c.2403G>T (p.Met801Ile) n.97-671C>A | |
8 | g.125043828C>G | CA372186905 | WASHC5,WASHC5-AS1 | c.2847G>C (p.Met949Ile) c.2403G>C (p.Met801Ile) n.97-671C>G | |
8 | g.125043828C>T | CA372186908 | WASHC5,WASHC5-AS1 | c.2847G>A (p.Met949Ile) c.2403G>A (p.Met801Ile) n.97-671C>T | |
8 | g.125043829A= | CA1817243715 | WASHC5,WASHC5-AS1 | c.2846T= (p.Met949=) c.2402T= (p.Met801=) n.97-670A= | |
8 | g.125043829A>C | CA372186911 | WASHC5,WASHC5-AS1 | c.2846T>G (p.Met949Arg) c.2402T>G (p.Met801Arg) n.97-670A>C | gnomAD v4 |
8 | g.125043829A>G | CA372186914 | WASHC5,WASHC5-AS1 | c.2846T>C (p.Met949Thr) c.2402T>C (p.Met801Thr) n.97-670A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125043829A>T | CA372186916 | WASHC5,WASHC5-AS1 | c.2846T>A (p.Met949Lys) c.2402T>A (p.Met801Lys) n.97-670A>T | |
8 | g.125043830T>A | CA372186920 | WASHC5,WASHC5-AS1 | c.2845A>T (p.Met949Leu) c.2401A>T (p.Met801Leu) n.97-669T>A | |
8 | g.125043830T>C | CA372186925 | WASHC5,WASHC5-AS1 | c.2845A>G (p.Met949Val) c.2401A>G (p.Met801Val) n.97-669T>C | |
8 | g.125043830T>G | CA185293248 | WASHC5,WASHC5-AS1 | c.2845A>C (p.Met949Leu) c.2401A>C (p.Met801Leu) n.97-669T>G | dbSNP |
8 | g.125043830T= | CA1817243719 | WASHC5,WASHC5-AS1 | c.2845A= (p.Met949=) c.2401A= (p.Met801=) n.97-669T= | |
8 | g.125043831T>A | CA462767967 | WASHC5,WASHC5-AS1 | c.2844A>T (p.Ile948=) c.2400A>T (p.Ile800=) n.97-668T>A | |
8 | g.125043831T>C | CA372186928 | WASHC5,WASHC5-AS1 | c.2844A>G (p.Ile948Met) c.2400A>G (p.Ile800Met) n.97-668T>C | gnomAD v4 |
8 | g.125043831T>G | CA462767968 | WASHC5,WASHC5-AS1 | c.2844A>C (p.Ile948=) c.2400A>C (p.Ile800=) n.97-668T>G | |
8 | g.125043832A>C | CA372186932 | WASHC5,WASHC5-AS1 | c.2843T>G (p.Ile948Arg) c.2399T>G (p.Ile800Arg) n.97-667A>C | |
8 | g.125043832A>G | CA372186934 | WASHC5,WASHC5-AS1 | c.2843T>C (p.Ile948Thr) c.2399T>C (p.Ile800Thr) n.97-667A>G | |
8 | g.125043832A>T | CA372186935 | WASHC5,WASHC5-AS1 | c.2843T>A (p.Ile948Lys) c.2399T>A (p.Ile800Lys) n.97-667A>T | |
8 | g.125043833T>A | CA372186938 | WASHC5,WASHC5-AS1 | c.2842A>T (p.Ile948Leu) c.2398A>T (p.Ile800Leu) n.97-666T>A | |
8 | g.125043833T>C | CA4873421 | WASHC5,WASHC5-AS1 | c.2842A>G (p.Ile948Val) c.2398A>G (p.Ile800Val) n.97-666T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125043833T>G | CA372186943 | WASHC5,WASHC5-AS1 | c.2842A>C (p.Ile948Leu) c.2398A>C (p.Ile800Leu) n.97-666T>G | gnomAD v4 |
8 | g.125043833T= | CA1817243723 | WASHC5,WASHC5-AS1 | c.2842A= (p.Ile948=) c.2398A= (p.Ile800=) n.97-666T= | |
8 | g.125043834A= | CA1817243729 | WASHC5,WASHC5-AS1 | c.2841T= (p.Ala947=) c.2397T= (p.Ala799=) n.97-665A= | |
8 | g.125043834A>C | CA462767969 | WASHC5,WASHC5-AS1 | c.2841T>G (p.Ala947=) c.2397T>G (p.Ala799=) n.97-665A>C | |
8 | g.125043834A>G | CA4873422 | WASHC5,WASHC5-AS1 | c.2841T>C (p.Ala947=) c.2397T>C (p.Ala799=) n.97-665A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125043834A>T | CA462767970 | WASHC5,WASHC5-AS1 | c.2841T>A (p.Ala947=) c.2397T>A (p.Ala799=) n.97-665A>T | |
8 | g.125043835G>A | CA372186950 | WASHC5,WASHC5-AS1 | c.2840C>T (p.Ala947Val) c.2396C>T (p.Ala799Val) n.97-664G>A | dbSNP |
8 | g.125043835G>C | CA372186952 | WASHC5,WASHC5-AS1 | c.2840C>G (p.Ala947Gly) c.2396C>G (p.Ala799Gly) n.97-664G>C | |
8 | g.125043835G>T | CA372186955 | WASHC5,WASHC5-AS1 | c.2840C>A (p.Ala947Asp) c.2396C>A (p.Ala799Asp) n.97-664G>T | gnomAD v4 |
8 | g.125043836C>A | CA372186959 | WASHC5,WASHC5-AS1 | c.2839G>T (p.Ala947Ser) c.2395G>T (p.Ala799Ser) n.97-663C>A | gnomAD v4 |
8 | g.125043836C= | CA1817243734 | WASHC5,WASHC5-AS1 | c.2839G= (p.Ala947=) c.2395G= (p.Ala799=) n.97-663C= | |
8 | g.125043836C>G | CA185293267 | WASHC5,WASHC5-AS1 | c.2839G>C (p.Ala947Pro) c.2395G>C (p.Ala799Pro) n.97-663C>G | dbSNP |
8 | g.125043836C>T | CA372186962 | WASHC5,WASHC5-AS1 | c.2839G>A (p.Ala947Thr) c.2395G>A (p.Ala799Thr) n.97-663C>T | |
8 | g.125043837C>A | CA372186968 | WASHC5,WASHC5-AS1 | c.2838G>T (p.Glu946Asp) c.2394G>T (p.Glu798Asp) n.97-662C>A | |
8 | g.125043837C>G | CA372186971 | WASHC5,WASHC5-AS1 | c.2838G>C (p.Glu946Asp) c.2394G>C (p.Glu798Asp) n.97-662C>G | |
8 | g.125043837C>T | CA462767971 | WASHC5,WASHC5-AS1 | c.2838G>A (p.Glu946=) c.2394G>A (p.Glu798=) n.97-662C>T | gnomAD v4 |
8 | g.125043838T>A | CA372186973 | WASHC5,WASHC5-AS1 | c.2837A>T (p.Glu946Val) c.2393A>T (p.Glu798Val) n.97-661T>A | |
8 | g.125043838T>C | CA372186976 | WASHC5,WASHC5-AS1 | c.2837A>G (p.Glu946Gly) c.2393A>G (p.Glu798Gly) n.97-661T>C | |
8 | g.125043838T>G | CA372186978 | WASHC5,WASHC5-AS1 | c.2837A>C (p.Glu946Ala) c.2393A>C (p.Glu798Ala) n.97-661T>G | |
8 | g.125043839C>A | CA372186983 | WASHC5,WASHC5-AS1 | c.2836G>T (p.Glu946Ter) c.2392G>T (p.Glu798Ter) n.97-660C>A | |
8 | g.125043839C= | CA1817243742 | WASHC5,WASHC5-AS1 | c.2836G= (p.Glu946=) c.2392G= (p.Glu798=) n.97-660C= | |
8 | g.125043839C>G | CA372186986 | WASHC5,WASHC5-AS1 | c.2836G>C (p.Glu946Gln) c.2392G>C (p.Glu798Gln) n.97-660C>G | gnomAD v4 |
8 | g.125043839C>T | CA4873423 | WASHC5,WASHC5-AS1 | c.2836G>A (p.Glu946Lys) c.2392G>A (p.Glu798Lys) n.97-660C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125043840G>A | CA4873424 | WASHC5,WASHC5-AS1 | c.2835C>T (p.Leu945=) c.2391C>T (p.Leu797=) n.97-659G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125043840G>C | CA462767972 | WASHC5,WASHC5-AS1 | c.2835C>G (p.Leu945=) c.2391C>G (p.Leu797=) n.97-659G>C | |
8 | g.125043840G= | CA1817243748 | WASHC5,WASHC5-AS1 | c.2835C= (p.Leu945=) c.2391C= (p.Leu797=) n.97-659G= | |
8 | g.125043840G>T | CA462767973 | WASHC5,WASHC5-AS1 | c.2835C>A (p.Leu945=) c.2391C>A (p.Leu797=) n.97-659G>T | |
8 | g.125043841A>C | CA372186996 | WASHC5,WASHC5-AS1 | c.2834T>G (p.Leu945Arg) c.2390T>G (p.Leu797Arg) n.97-658A>C | |
8 | g.125043841A>G | CA372186997 | WASHC5,WASHC5-AS1 | c.2834T>C (p.Leu945Pro) c.2390T>C (p.Leu797Pro) n.97-658A>G | |
8 | g.125043841A>T | CA372187002 | WASHC5,WASHC5-AS1 | c.2834T>A (p.Leu945His) c.2390T>A (p.Leu797His) n.97-658A>T | |
8 | g.125043842G>A | CA372187009 | WASHC5,WASHC5-AS1 | c.2833C>T (p.Leu945Phe) c.2389C>T (p.Leu797Phe) n.97-657G>A | |
8 | g.125043842G>C | CA185293284 | WASHC5,WASHC5-AS1 | c.2833C>G (p.Leu945Val) c.2389C>G (p.Leu797Val) n.97-657G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125043842G= | CA1817243754 | WASHC5,WASHC5-AS1 | c.2833C= (p.Leu945=) c.2389C= (p.Leu797=) n.97-657G= | |
8 | g.125043842G>T | CA372187007 | WASHC5,WASHC5-AS1 | c.2833C>A (p.Leu945Ile) c.2389C>A (p.Leu797Ile) n.97-657G>T | |
8 | g.125043843A= | CA1817243759 | WASHC5,WASHC5-AS1 | c.2832T= (p.Tyr944=) c.2388T= (p.Tyr796=) n.97-656A= | |
8 | g.125043843A>C | CA372187012 | WASHC5,WASHC5-AS1 | c.2832T>G (p.Tyr944Ter) c.2388T>G (p.Tyr796Ter) n.97-656A>C | |
8 | g.125043843A>G | CA185293290 | WASHC5,WASHC5-AS1 | c.2832T>C (p.Tyr944=) c.2388T>C (p.Tyr796=) n.97-656A>G | dbSNP |
8 | g.125043843A>T | CA372187017 | WASHC5,WASHC5-AS1 | c.2832T>A (p.Tyr944Ter) c.2388T>A (p.Tyr796Ter) n.97-656A>T | |
8 | g.125043843_125043859delinsATACGCAGTCCAAATCT | CA1817243761 | WASHC5,WASHC5-AS1 | c.2816_2832delinsAGATTTGGACTGCGTAT (p.Lys939=) c.2372_2388delinsAGATTTGGACTGCGTAT (p.Lys791=) n.97-656_97-640delinsATACGCAGTCCAAATCT | |
8 | g.125043844T>A | CA372187022 | WASHC5,WASHC5-AS1 | c.2831A>T (p.Tyr944Phe) c.2387A>T (p.Tyr796Phe) n.97-655T>A | |
8 | g.125043844T>C | CA372187026 | WASHC5,WASHC5-AS1 | c.2831A>G (p.Tyr944Cys) c.2387A>G (p.Tyr796Cys) n.97-655T>C | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125043844T>G | CA372187029 | WASHC5,WASHC5-AS1 | c.2831A>C (p.Tyr944Ser) c.2387A>C (p.Tyr796Ser) n.97-655T>G | |
8 | g.125043844T= | CA1817243777 | WASHC5,WASHC5-AS1 | c.2831A= (p.Tyr944=) c.2387A= (p.Tyr796=) n.97-655T= | |
8 | g.125043845_125043860del | CA4873425 | WASHC5,WASHC5-AS1 | c.2816_2831del (p.Lys939IlefsTer5) c.2372_2387del (p.Lys791IlefsTer5) n.97-654_97-639del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125043845A>C | CA372187033 | WASHC5,WASHC5-AS1 | c.2830T>G (p.Tyr944Asp) c.2386T>G (p.Tyr796Asp) n.97-654A>C | |
8 | g.125043845A>G | CA372187036 | WASHC5,WASHC5-AS1 | c.2830T>C (p.Tyr944His) c.2386T>C (p.Tyr796His) n.97-654A>G | |
8 | g.125043845A>T | CA372187039 | WASHC5,WASHC5-AS1 | c.2830T>A (p.Tyr944Asn) c.2386T>A (p.Tyr796Asn) n.97-654A>T | gnomAD v4 |
8 | g.125043846C>A | CA462767974 | WASHC5,WASHC5-AS1 | c.2829G>T (p.Ala943=) c.2385G>T (p.Ala795=) n.97-653C>A | |
8 | g.125043846C= | CA1817243783 | WASHC5,WASHC5-AS1 | c.2829G= (p.Ala943=) c.2385G= (p.Ala795=) n.97-653C= | |
8 | g.125043846C>G | CA462767975 | WASHC5,WASHC5-AS1 | c.2829G>C (p.Ala943=) c.2385G>C (p.Ala795=) n.97-653C>G | dbSNP |
8 | g.125043846C>T | CA4873426 | WASHC5,WASHC5-AS1 | c.2829G>A (p.Ala943=) c.2385G>A (p.Ala795=) n.97-653C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125043847G>A | CA372187049 | WASHC5,WASHC5-AS1 | c.2828C>T (p.Ala943Val) c.2384C>T (p.Ala795Val) n.97-652G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.125043847G>C | CA372187053 | WASHC5,WASHC5-AS1 | c.2828C>G (p.Ala943Gly) c.2384C>G (p.Ala795Gly) n.97-652G>C | |
8 | g.125043847G= | CA1817243791 | WASHC5,WASHC5-AS1 | c.2828C= (p.Ala943=) c.2384C= (p.Ala795=) n.97-652G= | |
8 | g.125043847G>T | CA372187045 | WASHC5,WASHC5-AS1 | c.2828C>A (p.Ala943Glu) c.2384C>A (p.Ala795Glu) n.97-652G>T | gnomAD v4 |
8 | g.125043848C>A | CA372187055 | WASHC5,WASHC5-AS1 | c.2827G>T (p.Ala943Ser) c.2383G>T (p.Ala795Ser) n.97-651C>A | |
8 | g.125043848C>G | CA372187057 | WASHC5,WASHC5-AS1 | c.2827G>C (p.Ala943Pro) c.2383G>C (p.Ala795Pro) n.97-651C>G | |
8 | g.125043848C>T | CA372187058 | WASHC5,WASHC5-AS1 | c.2827G>A (p.Ala943Thr) c.2383G>A (p.Ala795Thr) n.97-651C>T | |
8 | g.125043849A= | CA1817243799 | WASHC5,WASHC5-AS1 | c.2826T= (p.Thr942=) c.2382T= (p.Thr794=) n.97-650A= | |
8 | g.125043849A>C | CA4873427 | WASHC5,WASHC5-AS1 | c.2826T>G (p.Thr942=) c.2382T>G (p.Thr794=) n.97-650A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125043849A>G | CA4873428 | WASHC5,WASHC5-AS1 | c.2826T>C (p.Thr942=) c.2382T>C (p.Thr794=) n.97-650A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125043849A>T | CA462767976 | WASHC5,WASHC5-AS1 | c.2826T>A (p.Thr942=) c.2382T>A (p.Thr794=) n.97-650A>T | |
8 | g.125043849_125043852delinsAGTC | CA1817243801 | WASHC5,WASHC5-AS1 | c.2823_2826delinsGACT (p.Trp941=) c.2379_2382delinsGACT (p.Trp793=) n.97-650_97-647delinsAGTC | |
8 | g.125043850G>A | CA372187070 | WASHC5,WASHC5-AS1 | c.2825C>T (p.Thr942Ile) c.2381C>T (p.Thr794Ile) n.97-649G>A | |
8 | g.125043850G>C | CA372187067 | WASHC5,WASHC5-AS1 | c.2825C>G (p.Thr942Ser) c.2381C>G (p.Thr794Ser) n.97-649G>C | |
8 | g.125043850G>T | CA372187064 | WASHC5,WASHC5-AS1 | c.2825C>A (p.Thr942Asn) c.2381C>A (p.Thr794Asn) n.97-649G>T | |
8 | g.125043850_125043852del | CA1118838014 | WASHC5,WASHC5-AS1 | c.2823_2825del (p.Trp941_Thr942delinsCys) c.2379_2381del (p.Trp793_Thr794delinsCys) n.97-649_97-647del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125043851T>A | CA372187074 | WASHC5,WASHC5-AS1 | c.2824A>T (p.Thr942Ser) c.2380A>T (p.Thr794Ser) n.97-648T>A | |
8 | g.125043851T>C | CA372187077 | WASHC5,WASHC5-AS1 | c.2824A>G (p.Thr942Ala) c.2380A>G (p.Thr794Ala) n.97-648T>C | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125043851T>G | CA372187078 | WASHC5,WASHC5-AS1 | c.2824A>C (p.Thr942Pro) c.2380A>C (p.Thr794Pro) n.97-648T>G | |
8 | g.125043851T= | CA1817243805 | WASHC5,WASHC5-AS1 | c.2824A= (p.Thr942=) c.2380A= (p.Thr794=) n.97-648T= | |
8 | g.125043852C>A | CA372187081 | WASHC5,WASHC5-AS1 | c.2823G>T (p.Trp941Cys) c.2379G>T (p.Trp793Cys) n.97-647C>A | gnomAD v4 |
8 | g.125043852C>G | CA372187084 | WASHC5,WASHC5-AS1 | c.2823G>C (p.Trp941Cys) c.2379G>C (p.Trp793Cys) n.97-647C>G | gnomAD v4 |
8 | g.125043852C>T | CA372187086 | WASHC5,WASHC5-AS1 | c.2823G>A (p.Trp941Ter) c.2379G>A (p.Trp793Ter) n.97-647C>T | |
8 | g.125043853C>A | CA372187094 | WASHC5,WASHC5-AS1 | c.2822G>T (p.Trp941Leu) c.2378G>T (p.Trp793Leu) n.97-646C>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125043853C= | CA1817243806 | WASHC5,WASHC5-AS1 | c.2822G= (p.Trp941=) c.2378G= (p.Trp793=) n.97-646C= | |
8 | g.125043853C>G | CA372187090 | WASHC5,WASHC5-AS1 | c.2822G>C (p.Trp941Ser) c.2378G>C (p.Trp793Ser) n.97-646C>G | |
8 | g.125043853C>T | CA372187092 | WASHC5,WASHC5-AS1 | c.2822G>A (p.Trp941Ter) c.2378G>A (p.Trp793Ter) n.97-646C>T | |
8 | g.125043854A>C | CA372187098 | WASHC5,WASHC5-AS1 | c.2821T>G (p.Trp941Gly) c.2377T>G (p.Trp793Gly) n.97-645A>C | |
8 | g.125043854A>G | CA372187101 | WASHC5,WASHC5-AS1 | c.2821T>C (p.Trp941Arg) c.2377T>C (p.Trp793Arg) n.97-645A>G | |
8 | g.125043854A>T | CA372187105 | WASHC5,WASHC5-AS1 | c.2821T>A (p.Trp941Arg) c.2377T>A (p.Trp793Arg) n.97-645A>T | |
8 | g.125043854_125043857dup | CA2688509398 | WASHC5,WASHC5-AS1 | c.2818_2821dup (p.Trp941TyrfsTer25) c.2374_2377dup (p.Trp793TyrfsTer25) n.97-645_97-642dup | gnomAD v4 |
8 | g.125043855A>C | CA372187109 | WASHC5,WASHC5-AS1 | c.2820T>G (p.Ile940Met) c.2376T>G (p.Ile792Met) n.97-644A>C | |
8 | g.125043855A>G | CA462767977 | WASHC5,WASHC5-AS1 | c.2820T>C (p.Ile940=) c.2376T>C (p.Ile792=) n.97-644A>G | |
8 | g.125043855A>T | CA462767978 | WASHC5,WASHC5-AS1 | c.2820T>A (p.Ile940=) c.2376T>A (p.Ile792=) n.97-644A>T | |
8 | g.125043856A= | CA1817243812 | WASHC5,WASHC5-AS1 | c.2819T= (p.Ile940=) c.2375T= (p.Ile792=) n.97-643A= | |
8 | g.125043856A>C | CA372187111 | WASHC5,WASHC5-AS1 | c.2819T>G (p.Ile940Ser) c.2375T>G (p.Ile792Ser) n.97-643A>C | |
8 | g.125043856A>G | CA4873429 | WASHC5,WASHC5-AS1 | c.2819T>C (p.Ile940Thr) c.2375T>C (p.Ile792Thr) n.97-643A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125043856A>T | CA372187117 | WASHC5,WASHC5-AS1 | c.2819T>A (p.Ile940Asn) c.2375T>A (p.Ile792Asn) n.97-643A>T | |
8 | g.125043856_125043859delinsATCT | CA1817243810 | WASHC5,WASHC5-AS1 | c.2816_2819delinsAGAT (p.Lys939=) c.2372_2375delinsAGAT (p.Lys791=) n.97-643_97-640delinsATCT | |
8 | g.125043857T>A | CA372187121 | WASHC5,WASHC5-AS1 | c.2818A>T (p.Ile940Phe) c.2374A>T (p.Ile792Phe) n.97-642T>A | gnomAD v4 |
8 | g.125043857T>C | CA372187124 | WASHC5,WASHC5-AS1 | c.2818A>G (p.Ile940Val) c.2374A>G (p.Ile792Val) n.97-642T>C | |
8 | g.125043857T>G | CA372187128 | WASHC5,WASHC5-AS1 | c.2818A>C (p.Ile940Leu) c.2374A>C (p.Ile792Leu) n.97-642T>G | |
8 | g.125043860_125043862del | CA4873430 | WASHC5,WASHC5-AS1 | c.2816_2818del (p.Lys939del) c.2372_2374del (p.Lys791del) n.97-639_97-637del | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125043858C>A | CA372187132 | WASHC5,WASHC5-AS1 | c.2817G>T (p.Lys939Asn) c.2373G>T (p.Lys791Asn) n.97-641C>A | COSMIC |
8 | g.125043858C>G | CA372187135 | WASHC5,WASHC5-AS1 | c.2817G>C (p.Lys939Asn) c.2373G>C (p.Lys791Asn) n.97-641C>G | |
8 | g.125043858C>T | CA462767979 | WASHC5,WASHC5-AS1 | c.2817G>A (p.Lys939=) c.2373G>A (p.Lys791=) n.97-641C>T | |
8 | g.125043859T>A | CA372187140 | WASHC5,WASHC5-AS1 | c.2816A>T (p.Lys939Met) c.2372A>T (p.Lys791Met) n.97-640T>A | |
8 | g.125043859T>C | CA372187146 | WASHC5,WASHC5-AS1 | c.2816A>G (p.Lys939Arg) c.2372A>G (p.Lys791Arg) n.97-640T>C | |
8 | g.125043859T>G | CA372187143 | WASHC5,WASHC5-AS1 | c.2816A>C (p.Lys939Thr) c.2372A>C (p.Lys791Thr) n.97-640T>G | |
8 | g.125043860T>A | CA372187150 | WASHC5,WASHC5-AS1 | c.2815A>T (p.Lys939Ter) c.2371A>T (p.Lys791Ter) n.97-639T>A | |
8 | g.125043860T>C | CA4873431 | WASHC5,WASHC5-AS1 | c.2815A>G (p.Lys939Glu) c.2371A>G (p.Lys791Glu) n.97-639T>C | dbSNP ExAC gnomAD v2 |
8 | g.125043860T>G | CA372187154 | WASHC5,WASHC5-AS1 | c.2815A>C (p.Lys939Gln) c.2371A>C (p.Lys791Gln) n.97-639T>G | |
8 | g.125043860T= | CA1817243823 | WASHC5,WASHC5-AS1 | c.2815A= (p.Lys939=) c.2371A= (p.Lys791=) n.97-639T= | |
8 | g.125043861C>A | CA372187158 | WASHC5,WASHC5-AS1 | c.2814G>T (p.Gln938His) c.2370G>T (p.Gln790His) n.97-638C>A | |
8 | g.125043861C>G | CA372187161 | WASHC5,WASHC5-AS1 | c.2814G>C (p.Gln938His) c.2370G>C (p.Gln790His) n.97-638C>G | |
8 | g.125043861C>T | CA462767980 | WASHC5,WASHC5-AS1 | c.2814G>A (p.Gln938=) c.2370G>A (p.Gln790=) n.97-638C>T | gnomAD v4 |
8 | g.125043861_125043863delinsCTG | CA1817243830 | WASHC5,WASHC5-AS1 | c.2812_2814delinsCAG (p.Gln938=) c.2368_2370delinsCAG (p.Gln790=) n.97-638_97-636delinsCTG | |
8 | g.125043862T>A | CA372187169 | WASHC5,WASHC5-AS1 | c.2813A>T (p.Gln938Leu) c.2369A>T (p.Gln790Leu) n.97-637T>A | |
8 | g.125043862T>C | CA372187166 | WASHC5,WASHC5-AS1 | c.2813A>G (p.Gln938Arg) c.2369A>G (p.Gln790Arg) n.97-637T>C | dbSNP |
8 | g.125043862T>G | CA372187164 | WASHC5,WASHC5-AS1 | c.2813A>C (p.Gln938Pro) c.2369A>C (p.Gln790Pro) n.97-637T>G | |
8 | g.125043862T= | CA1817243834 | WASHC5,WASHC5-AS1 | c.2813A= (p.Gln938=) c.2369A= (p.Gln790=) n.97-637T= | |
8 | g.125043865_125043866del | CA846920502 | WASHC5,WASHC5-AS1 | c.2812_2813del (p.Gln938GlufsTer26) c.2368_2369del (p.Gln790GlufsTer26) n.97-634_97-633del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125043863G>A | CA372187173 | WASHC5,WASHC5-AS1 | c.2812C>T (p.Gln938Ter) c.2368C>T (p.Gln790Ter) n.97-636G>A | |
8 | g.125043863G>C | CA372187175 | WASHC5,WASHC5-AS1 | c.2812C>G (p.Gln938Glu) c.2368C>G (p.Gln790Glu) n.97-636G>C | |
8 | g.125043863G>T | CA372187177 | WASHC5,WASHC5-AS1 | c.2812C>A (p.Gln938Lys) c.2368C>A (p.Gln790Lys) n.97-636G>T | |
8 | g.125043864T>A | CA462767981 | WASHC5,WASHC5-AS1 | c.2811A>T (p.Thr937=) c.2367A>T (p.Thr789=) n.97-635T>A | |
8 | g.125043864T>C | CA462767982 | WASHC5,WASHC5-AS1 | c.2811A>G (p.Thr937=) c.2367A>G (p.Thr789=) n.97-635T>C | gnomAD v4 |
8 | g.125043864T>G | CA462767983 | WASHC5,WASHC5-AS1 | c.2811A>C (p.Thr937=) c.2367A>C (p.Thr789=) n.97-635T>G | |
8 | g.125043865G>A | CA372187180 | WASHC5,WASHC5-AS1 | c.2810C>T (p.Thr937Ile) c.2366C>T (p.Thr789Ile) n.97-634G>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125043865G>C | CA372187183 | WASHC5,WASHC5-AS1 | c.2810C>G (p.Thr937Arg) c.2366C>G (p.Thr789Arg) n.97-634G>C | |
8 | g.125043865G= | CA1817243836 | WASHC5,WASHC5-AS1 | c.2810C= (p.Thr937=) c.2366C= (p.Thr789=) n.97-634G= | |
8 | g.125043865G>T | CA372187186 | WASHC5,WASHC5-AS1 | c.2810C>A (p.Thr937Lys) c.2366C>A (p.Thr789Lys) n.97-634G>T | |
8 | g.125043866T>A | CA372187188 | WASHC5,WASHC5-AS1 | c.2809A>T (p.Thr937Ser) c.2365A>T (p.Thr789Ser) n.97-633T>A | |
8 | g.125043866T>C | CA372187193 | WASHC5,WASHC5-AS1 | c.2809A>G (p.Thr937Ala) c.2365A>G (p.Thr789Ala) n.97-633T>C | gnomAD v4 |
8 | g.125043866T>G | CA372187191 | WASHC5,WASHC5-AS1 | c.2809A>C (p.Thr937Pro) c.2365A>C (p.Thr789Pro) n.97-633T>G | |
8 | g.125043867T>A | CA372187197 | WASHC5,WASHC5-AS1 | c.2808A>T (p.Lys936Asn) c.2364A>T (p.Lys788Asn) n.97-632T>A | |
8 | g.125043867T>C | CA462767984 | WASHC5,WASHC5-AS1 | c.2808A>G (p.Lys936=) c.2364A>G (p.Lys788=) n.97-632T>C | |
8 | g.125043867T>G | CA372187199 | WASHC5,WASHC5-AS1 | c.2808A>C (p.Lys936Asn) c.2364A>C (p.Lys788Asn) n.97-632T>G | |
8 | g.125043868T>A | CA372187203 | WASHC5,WASHC5-AS1 | c.2807A>T (p.Lys936Ile) c.2363A>T (p.Lys788Ile) n.97-631T>A | |
8 | g.125043868T>C | CA372187205 | WASHC5,WASHC5-AS1 | c.2807A>G (p.Lys936Arg) c.2363A>G (p.Lys788Arg) n.97-631T>C | gnomAD v4 |
8 | g.125043868T>G | CA372187207 | WASHC5,WASHC5-AS1 | c.2807A>C (p.Lys936Thr) c.2363A>C (p.Lys788Thr) n.97-631T>G | dbSNP |
8 | g.125043868T= | CA1817243839 | WASHC5,WASHC5-AS1 | c.2807A= (p.Lys936=) c.2363A= (p.Lys788=) n.97-631T= | |
8 | g.125043869T>A | CA372187209 | WASHC5,WASHC5-AS1 | c.2806A>T (p.Lys936Ter) c.2362A>T (p.Lys788Ter) n.97-630T>A | |
8 | g.125043869T>C | CA372187211 | WASHC5,WASHC5-AS1 | c.2806A>G (p.Lys936Glu) c.2362A>G (p.Lys788Glu) n.97-630T>C | |
8 | g.125043869T>G | CA372187214 | WASHC5,WASHC5-AS1 | c.2806A>C (p.Lys936Gln) c.2362A>C (p.Lys788Gln) n.97-630T>G | |
8 | g.125043870G>A | CA462767986 | WASHC5,WASHC5-AS1 | c.2805C>T (p.Ala935=) c.2361C>T (p.Ala787=) n.97-629G>A | gnomAD v4 |
8 | g.125043870G>C | CA462767985 | WASHC5,WASHC5-AS1 | c.2805C>G (p.Ala935=) c.2361C>G (p.Ala787=) n.97-629G>C | |
8 | g.125043870G>T | CA462767987 | WASHC5,WASHC5-AS1 | c.2805C>A (p.Ala935=) c.2361C>A (p.Ala787=) n.97-629G>T | |
8 | g.125043871G>A | CA372187218 | WASHC5,WASHC5-AS1 | c.2804C>T (p.Ala935Val) c.2360C>T (p.Ala787Val) n.97-628G>A | gnomAD v4 |
8 | g.125043871G>C | CA372187221 | WASHC5,WASHC5-AS1 | c.2804C>G (p.Ala935Gly) c.2360C>G (p.Ala787Gly) n.97-628G>C | |
8 | g.125043871G>T | CA372187223 | WASHC5,WASHC5-AS1 | c.2804C>A (p.Ala935Asp) c.2360C>A (p.Ala787Asp) n.97-628G>T | |
8 | g.125043872C>A | CA372187229 | WASHC5,WASHC5-AS1 | c.2803G>T (p.Ala935Ser) c.2359G>T (p.Ala787Ser) n.97-627C>A | |
8 | g.125043872C>G | CA372187231 | WASHC5,WASHC5-AS1 | c.2803G>C (p.Ala935Pro) c.2359G>C (p.Ala787Pro) n.97-627C>G | |
8 | g.125043872C>T | CA372187227 | WASHC5,WASHC5-AS1 | c.2803G>A (p.Ala935Thr) c.2359G>A (p.Ala787Thr) n.97-627C>T | gnomAD v4 |
8 | g.125043873A= | CA1817243842 | WASHC5,WASHC5-AS1 | c.2802T= (p.Ile934=) c.2358T= (p.Ile786=) n.97-626A= | |
8 | g.125043873A>C | CA372187234 | WASHC5,WASHC5-AS1 | c.2802T>G (p.Ile934Met) c.2358T>G (p.Ile786Met) n.97-626A>C | gnomAD v4 |
8 | g.125043873A>G | CA462767989 | WASHC5,WASHC5-AS1 | c.2802T>C (p.Ile934=) c.2358T>C (p.Ile786=) n.97-626A>G | dbSNP gnomAD v4 |
8 | g.125043873A>T | CA462767988 | WASHC5,WASHC5-AS1 | c.2802T>A (p.Ile934=) c.2358T>A (p.Ile786=) n.97-626A>T | |
8 | g.125043874A= | CA1817243845 | WASHC5,WASHC5-AS1 | c.2801T= (p.Ile934=) c.2357T= (p.Ile786=) n.97-625A= | |
8 | g.125043874A>C | CA372187240 | WASHC5,WASHC5-AS1 | c.2801T>G (p.Ile934Ser) c.2357T>G (p.Ile786Ser) n.97-625A>C | |
8 | g.125043874A>G | CA372187249 | WASHC5,WASHC5-AS1 | c.2801T>C (p.Ile934Thr) c.2357T>C (p.Ile786Thr) n.97-625A>G | dbSNP gnomAD v4 |
8 | g.125043874A>T | CA372187244 | WASHC5,WASHC5-AS1 | c.2801T>A (p.Ile934Asn) c.2357T>A (p.Ile786Asn) n.97-625A>T | |
8 | g.125043875T>A | CA372187253 | WASHC5,WASHC5-AS1 | c.2800A>T (p.Ile934Phe) c.2356A>T (p.Ile786Phe) n.97-624T>A | |
8 | g.125043875T>C | CA185293352 | WASHC5,WASHC5-AS1 | c.2800A>G (p.Ile934Val) c.2356A>G (p.Ile786Val) n.97-624T>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125043875T>G | CA372187256 | WASHC5,WASHC5-AS1 | c.2800A>C (p.Ile934Leu) c.2356A>C (p.Ile786Leu) n.97-624T>G | |
8 | g.125043875T= | CA1817243847 | WASHC5,WASHC5-AS1 | c.2800A= (p.Ile934=) c.2356A= (p.Ile786=) n.97-624T= | |
8 | g.125043876G>A | CA462767990 | WASHC5,WASHC5-AS1 | c.2799C>T (p.Ala933=) c.2355C>T (p.Ala785=) n.97-623G>A | |
8 | g.125043876G>C | CA462767992 | WASHC5,WASHC5-AS1 | c.2799C>G (p.Ala933=) c.2355C>G (p.Ala785=) n.97-623G>C | |
8 | g.125043876G>T | CA462767991 | WASHC5,WASHC5-AS1 | c.2799C>A (p.Ala933=) c.2355C>A (p.Ala785=) n.97-623G>T | |
8 | g.125043877G>A | CA372187260 | WASHC5,WASHC5-AS1 | c.2798C>T (p.Ala933Val) c.2354C>T (p.Ala785Val) n.97-622G>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125043877G>C | CA372187268 | WASHC5,WASHC5-AS1 | c.2798C>G (p.Ala933Gly) c.2354C>G (p.Ala785Gly) n.97-622G>C | |
8 | g.125043877G= | CA1817243856 | WASHC5,WASHC5-AS1 | c.2798C= (p.Ala933=) c.2354C= (p.Ala785=) n.97-622G= | |
8 | g.125043877G>T | CA372187264 | WASHC5,WASHC5-AS1 | c.2798C>A (p.Ala933Asp) c.2354C>A (p.Ala785Asp) n.97-622G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125043878C>A | CA372187270 | WASHC5,WASHC5-AS1 | c.2797G>T (p.Ala933Ser) c.2353G>T (p.Ala785Ser) n.97-621C>A | |
8 | g.125043878C= | CA1817243861 | WASHC5,WASHC5-AS1 | c.2797G= (p.Ala933=) c.2353G= (p.Ala785=) n.97-621C= | |
8 | g.125043878C>G | CA372187272 | WASHC5,WASHC5-AS1 | c.2797G>C (p.Ala933Pro) c.2353G>C (p.Ala785Pro) n.97-621C>G | |
8 | g.125043878C>T | CA4873432 | WASHC5,WASHC5-AS1 | c.2797G>A (p.Ala933Thr) c.2353G>A (p.Ala785Thr) n.97-621C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.125043879G>A | CA462767993 | WASHC5,WASHC5-AS1 | c.2796C>T (p.Ser932=) c.2352C>T (p.Ser784=) n.97-620G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125043879G>C | CA462767994 | WASHC5,WASHC5-AS1 | c.2796C>G (p.Ser932=) c.2352C>G (p.Ser784=) n.97-620G>C | |
8 | g.125043879G= | CA1817243865 | WASHC5,WASHC5-AS1 | c.2796C= (p.Ser932=) c.2352C= (p.Ser784=) n.97-620G= | |
8 | g.125043879G>T | CA462767995 | WASHC5,WASHC5-AS1 | c.2796C>A (p.Ser932=) c.2352C>A (p.Ser784=) n.97-620G>T | |
8 | g.125043880G>A | CA372187277 | WASHC5,WASHC5-AS1 | c.2795C>T (p.Ser932Phe) c.2351C>T (p.Ser784Phe) n.97-619G>A | |
8 | g.125043880G>C | CA372187280 | WASHC5,WASHC5-AS1 | c.2795C>G (p.Ser932Cys) c.2351C>G (p.Ser784Cys) n.97-619G>C | |
8 | g.125043880G>T | CA372187283 | WASHC5,WASHC5-AS1 | c.2795C>A (p.Ser932Tyr) c.2351C>A (p.Ser784Tyr) n.97-619G>T | |
8 | g.125043881A= | CA1817243870 | WASHC5,WASHC5-AS1 | c.2794T= (p.Ser932=) c.2350T= (p.Ser784=) n.97-618A= | |
8 | g.125043881A>C | CA372187288 | WASHC5,WASHC5-AS1 | c.2794T>G (p.Ser932Ala) c.2350T>G (p.Ser784Ala) n.97-618A>C | |
8 | g.125043881A>G | CA372187291 | WASHC5,WASHC5-AS1 | c.2794T>C (p.Ser932Pro) c.2350T>C (p.Ser784Pro) n.97-618A>G | COSMIC |
8 | g.125043881A>T | CA372187294 | WASHC5,WASHC5-AS1 | c.2794T>A (p.Ser932Thr) c.2350T>A (p.Ser784Thr) n.97-618A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.125043882A= | CA1817243876 | WASHC5,WASHC5-AS1 | c.2793T= (p.Phe931=) c.2349T= (p.Phe783=) n.97-617A= | |
8 | g.125043882A>C | CA372187299 | WASHC5,WASHC5-AS1 | c.2793T>G (p.Phe931Leu) c.2349T>G (p.Phe783Leu) n.97-617A>C | |
8 | g.125043882A>G | CA462767996 | WASHC5,WASHC5-AS1 | c.2793T>C (p.Phe931=) c.2349T>C (p.Phe783=) n.97-617A>G | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125043882A>T | CA372187301 | WASHC5,WASHC5-AS1 | c.2793T>A (p.Phe931Leu) c.2349T>A (p.Phe783Leu) n.97-617A>T | COSMIC |
8 | g.125043883A>C | CA372187304 | WASHC5,WASHC5-AS1 | c.2792T>G (p.Phe931Cys) c.2348T>G (p.Phe783Cys) n.97-616A>C | |
8 | g.125043883A>G | CA372187307 | WASHC5,WASHC5-AS1 | c.2792T>C (p.Phe931Ser) c.2348T>C (p.Phe783Ser) n.97-616A>G | |
8 | g.125043883A>T | CA372187309 | WASHC5,WASHC5-AS1 | c.2792T>A (p.Phe931Tyr) c.2348T>A (p.Phe783Tyr) n.97-616A>T | |
8 | g.125043884A>C | CA372187312 | WASHC5,WASHC5-AS1 | c.2791T>G (p.Phe931Val) c.2347T>G (p.Phe783Val) n.97-615A>C | |
8 | g.125043884A>G | CA372187319 | WASHC5,WASHC5-AS1 | c.2791T>C (p.Phe931Leu) c.2347T>C (p.Phe783Leu) n.97-615A>G | |
8 | g.125043884A>T | CA372187315 | WASHC5,WASHC5-AS1 | c.2791T>A (p.Phe931Ile) c.2347T>A (p.Phe783Ile) n.97-615A>T | |
8 | g.125043885A>C | CA372187322 | WASHC5,WASHC5-AS1 | c.2790T>G (p.Tyr930Ter) c.2346T>G (p.Tyr782Ter) n.97-614A>C | |
8 | g.125043885A>G | CA462767997 | WASHC5,WASHC5-AS1 | c.2790T>C (p.Tyr930=) c.2346T>C (p.Tyr782=) n.97-614A>G | |
8 | g.125043885A>T | CA372187323 | WASHC5,WASHC5-AS1 | c.2790T>A (p.Tyr930Ter) c.2346T>A (p.Tyr782Ter) n.97-614A>T | |
8 | g.125043886T>A | CA372187327 | WASHC5,WASHC5-AS1 | c.2789A>T (p.Tyr930Phe) c.2345A>T (p.Tyr782Phe) n.97-613T>A | |
8 | g.125043886T>C | CA372187330 | WASHC5,WASHC5-AS1 | c.2789A>G (p.Tyr930Cys) c.2345A>G (p.Tyr782Cys) n.97-613T>C | |
8 | g.125043886T>G | CA372187334 | WASHC5,WASHC5-AS1 | c.2789A>C (p.Tyr930Ser) c.2345A>C (p.Tyr782Ser) n.97-613T>G | ClinVar dbSNP |
8 | g.125043886T= | CA1817243883 | WASHC5,WASHC5-AS1 | c.2789A= (p.Tyr930=) c.2345A= (p.Tyr782=) n.97-613T= | |
8 | g.125043886_125043888delinsTAA | CA1817243886 | WASHC5,WASHC5-AS1 | c.2787_2789delinsTTA (p.Ile929=) c.2343_2345delinsTTA (p.Ile781=) n.97-613_97-611delinsTAA | |
8 | g.125043887A>C | CA372187337 | WASHC5,WASHC5-AS1 | c.2788T>G (p.Tyr930Asp) c.2344T>G (p.Tyr782Asp) n.97-612A>C | |
8 | g.125043887A>G | CA372187338 | WASHC5,WASHC5-AS1 | c.2788T>C (p.Tyr930His) c.2344T>C (p.Tyr782His) n.97-612A>G | |
8 | g.125043887A>T | CA372187341 | WASHC5,WASHC5-AS1 | c.2788T>A (p.Tyr930Asn) c.2344T>A (p.Tyr782Asn) n.97-612A>T | |
8 | g.125043888_125043889del | CA1817243889 | WASHC5,WASHC5-AS1 | c.2787_2788del (p.Tyr930PhefsTer?) c.2343_2344del (p.Tyr782PhefsTer?) n.97-611_97-610del | dbSNP |
8 | g.125043888A= | CA1817243891 | WASHC5,WASHC5-AS1 | c.2787T= (p.Ile929=) c.2343T= (p.Ile781=) n.97-611A= | |
8 | g.125043888A>C | CA4873433 | WASHC5,WASHC5-AS1 | c.2787T>G (p.Ile929Met) c.2343T>G (p.Ile781Met) n.97-611A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125043888A>G | CA462767998 | WASHC5,WASHC5-AS1 | c.2787T>C (p.Ile929=) c.2343T>C (p.Ile781=) n.97-611A>G | |
8 | g.125043888A>T | CA462767999 | WASHC5,WASHC5-AS1 | c.2787T>A (p.Ile929=) c.2343T>A (p.Ile781=) n.97-611A>T | |
8 | g.125043889A>C | CA372187349 | WASHC5,WASHC5-AS1 | c.2786T>G (p.Ile929Ser) c.2342T>G (p.Ile781Ser) n.97-610A>C | |
8 | g.125043889A>G | CA372187352 | WASHC5,WASHC5-AS1 | c.2786T>C (p.Ile929Thr) c.2342T>C (p.Ile781Thr) n.97-610A>G | |
8 | g.125043889A>T | CA372187346 | WASHC5,WASHC5-AS1 | c.2786T>A (p.Ile929Asn) c.2342T>A (p.Ile781Asn) n.97-610A>T | |
8 | g.125043890T>A | CA372187356 | WASHC5,WASHC5-AS1 | c.2785A>T (p.Ile929Phe) c.2341A>T (p.Ile781Phe) n.97-609T>A | |
8 | g.125043890T>C | CA372187359 | WASHC5,WASHC5-AS1 | c.2785A>G (p.Ile929Val) c.2341A>G (p.Ile781Val) n.97-609T>C | gnomAD v4 |
8 | g.125043890T>G | CA372187361 | WASHC5,WASHC5-AS1 | c.2785A>C (p.Ile929Leu) c.2341A>C (p.Ile781Leu) n.97-609T>G | |
8 | g.125043890_125043893del | CA2688509401 | WASHC5,WASHC5-AS1 | c.2782_2785del (p.Lys928PhefsTer20) c.2338_2341del (p.Lys780PhefsTer20) n.97-609_97-606del | gnomAD v4 |
8 | g.125043891T>A | CA372187363 | WASHC5,WASHC5-AS1 | c.2784A>T (p.Lys928Asn) c.2340A>T (p.Lys780Asn) n.97-608T>A | |
8 | g.125043891T>C | CA462768000 | WASHC5,WASHC5-AS1 | c.2784A>G (p.Lys928=) c.2340A>G (p.Lys780=) n.97-608T>C | |
8 | g.125043891T>G | CA372187366 | WASHC5,WASHC5-AS1 | c.2784A>C (p.Lys928Asn) c.2340A>C (p.Lys780Asn) n.97-608T>G | |
8 | g.125043892T>A | CA372187375 | WASHC5,WASHC5-AS1 | c.2783A>T (p.Lys928Ile) c.2339A>T (p.Lys780Ile) n.97-607T>A | |
8 | g.125043892T>C | CA372187371 | WASHC5,WASHC5-AS1 | c.2783A>G (p.Lys928Arg) c.2339A>G (p.Lys780Arg) n.97-607T>C | |
8 | g.125043892T>G | CA372187373 | WASHC5,WASHC5-AS1 | c.2783A>C (p.Lys928Thr) c.2339A>C (p.Lys780Thr) n.97-607T>G | gnomAD v4 |
8 | g.125043893T>A | CA372187379 | WASHC5,WASHC5-AS1 | c.2782A>T (p.Lys928Ter) c.2338A>T (p.Lys780Ter) n.97-606T>A | |
8 | g.125043893T>C | CA372187382 | WASHC5,WASHC5-AS1 | c.2782A>G (p.Lys928Glu) c.2338A>G (p.Lys780Glu) n.97-606T>C | |
8 | g.125043893T>G | CA372187383 | WASHC5,WASHC5-AS1 | c.2782A>C (p.Lys928Gln) c.2338A>C (p.Lys780Gln) n.97-606T>G | |
8 | g.125043894A>C | CA372187387 | WASHC5,WASHC5-AS1 | c.2781T>G (p.Asn927Lys) c.2337T>G (p.Asn779Lys) n.97-605A>C | |
8 | g.125043894A>G | CA462768001 | WASHC5,WASHC5-AS1 | c.2781T>C (p.Asn927=) c.2337T>C (p.Asn779=) n.97-605A>G | |
8 | g.125043894A>T | CA372187390 | WASHC5,WASHC5-AS1 | c.2781T>A (p.Asn927Lys) c.2337T>A (p.Asn779Lys) n.97-605A>T | |
8 | g.125043895T>A | CA372187395 | WASHC5,WASHC5-AS1 | c.2780A>T (p.Asn927Ile) c.2336A>T (p.Asn779Ile) n.97-604T>A | |
8 | g.125043895T>C | CA372187400 | WASHC5,WASHC5-AS1 | c.2780A>G (p.Asn927Ser) c.2336A>G (p.Asn779Ser) n.97-604T>C | ClinVar |
8 | g.125043895T>G | CA372187398 | WASHC5,WASHC5-AS1 | c.2780A>C (p.Asn927Thr) c.2336A>C (p.Asn779Thr) n.97-604T>G | |
8 | g.125043896T>A | CA372187403 | WASHC5,WASHC5-AS1 | c.2779A>T (p.Asn927Tyr) c.2335A>T (p.Asn779Tyr) n.97-603T>A | |
8 | g.125043896T>C | CA372187406 | WASHC5,WASHC5-AS1 | c.2779A>G (p.Asn927Asp) c.2335A>G (p.Asn779Asp) n.97-603T>C | |
8 | g.125043896T>G | CA372187408 | WASHC5,WASHC5-AS1 | c.2779A>C (p.Asn927His) c.2335A>C (p.Asn779His) n.97-603T>G | |
8 | g.125043897T>A | CA462768002 | WASHC5,WASHC5-AS1 | c.2778A>T (p.Ser926=) c.2334A>T (p.Ser778=) n.97-602T>A | |
8 | g.125043897T>C | CA462768004 | WASHC5,WASHC5-AS1 | c.2778A>G (p.Ser926=) c.2334A>G (p.Ser778=) n.97-602T>C | |
8 | g.125043897T>G | CA462768003 | WASHC5,WASHC5-AS1 | c.2778A>C (p.Ser926=) c.2334A>C (p.Ser778=) n.97-602T>G | |
8 | g.125043898G>A | CA372187412 | WASHC5,WASHC5-AS1 | c.2777C>T (p.Ser926Leu) c.2333C>T (p.Ser778Leu) n.97-601G>A | |
8 | g.125043898G>C | CA372187414 | WASHC5,WASHC5-AS1 | c.2777C>G (p.Ser926Ter) c.2333C>G (p.Ser778Ter) n.97-601G>C | |
8 | g.125043898G>T | CA372187416 | WASHC5,WASHC5-AS1 | c.2777C>A (p.Ser926Ter) c.2333C>A (p.Ser778Ter) n.97-601G>T | gnomAD v4 |
8 | g.125043899A= | CA1817243894 | WASHC5,WASHC5-AS1 | c.2776T= (p.Ser926=) c.2332T= (p.Ser778=) n.97-600A= | |
8 | g.125043899A>C | CA372187420 | WASHC5,WASHC5-AS1 | c.2776T>G (p.Ser926Ala) c.2332T>G (p.Ser778Ala) n.97-600A>C | |
8 | g.125043899A>G | CA372187423 | WASHC5,WASHC5-AS1 | c.2776T>C (p.Ser926Pro) c.2332T>C (p.Ser778Pro) n.97-600A>G | |
8 | g.125043899A>T | CA4873434 | WASHC5,WASHC5-AS1 | c.2776T>A (p.Ser926Thr) c.2332T>A (p.Ser778Thr) n.97-600A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125043900A= | CA1817243898 | WASHC5,WASHC5-AS1 | c.2775T= (p.Asn925=) c.2331T= (p.Asn777=) n.97-599A= | |
8 | g.125043900A>C | CA372187427 | WASHC5,WASHC5-AS1 | c.2775T>G (p.Asn925Lys) c.2331T>G (p.Asn777Lys) n.97-599A>C | gnomAD v4 |
8 | g.125043900A>G | CA462768005 | WASHC5,WASHC5-AS1 | c.2775T>C (p.Asn925=) c.2331T>C (p.Asn777=) n.97-599A>G | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125043900A>T | CA372187431 | WASHC5,WASHC5-AS1 | c.2775T>A (p.Asn925Lys) c.2331T>A (p.Asn777Lys) n.97-599A>T | |
8 | g.125043901T>A | CA372187441 | WASHC5,WASHC5-AS1 | c.2774A>T (p.Asn925Ile) c.2330A>T (p.Asn777Ile) n.97-598T>A | |
8 | g.125043901T>C | CA372187438 | WASHC5,WASHC5-AS1 | c.2774A>G (p.Asn925Ser) c.2330A>G (p.Asn777Ser) n.97-598T>C | |
8 | g.125043901T>G | CA372187434 | WASHC5,WASHC5-AS1 | c.2774A>C (p.Asn925Thr) c.2330A>C (p.Asn777Thr) n.97-598T>G | |
8 | g.125043902T>A | CA4873435 | WASHC5,WASHC5-AS1 | c.2773A>T (p.Asn925Tyr) c.2329A>T (p.Asn777Tyr) n.97-597T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125043902T>C | CA372187450 | WASHC5,WASHC5-AS1 | c.2773A>G (p.Asn925Asp) c.2329A>G (p.Asn777Asp) n.97-597T>C | dbSNP gnomAD v4 |
8 | g.125043902T>G | CA372187446 | WASHC5,WASHC5-AS1 | c.2773A>C (p.Asn925His) c.2329A>C (p.Asn777His) n.97-597T>G | |
8 | g.125043902T= | CA1817243901 | WASHC5,WASHC5-AS1 | c.2773A= (p.Asn925=) c.2329A= (p.Asn777=) n.97-597T= | |
8 | g.125043903T>A | CA462768006 | WASHC5,WASHC5-AS1 | c.2772A>T (p.Ala924=) c.2328A>T (p.Ala776=) n.97-596T>A | |
8 | g.125043903T>C | CA462768007 | WASHC5,WASHC5-AS1 | c.2772A>G (p.Ala924=) c.2328A>G (p.Ala776=) n.97-596T>C | |
8 | g.125043903T>G | CA462768008 | WASHC5,WASHC5-AS1 | c.2772A>C (p.Ala924=) c.2328A>C (p.Ala776=) n.97-596T>G | |
8 | g.125043904G>A | CA185293400 | WASHC5,WASHC5-AS1 | c.2771C>T (p.Ala924Val) c.2327C>T (p.Ala776Val) n.97-595G>A | dbSNP gnomAD v4 |
8 | g.125043904G>C | CA372187454 | WASHC5,WASHC5-AS1 | c.2771C>G (p.Ala924Gly) c.2327C>G (p.Ala776Gly) n.97-595G>C | |
8 | g.125043904G= | CA1817243914 | WASHC5,WASHC5-AS1 | c.2771C= (p.Ala924=) c.2327C= (p.Ala776=) n.97-595G= | |
8 | g.125043904G>T | CA372187457 | WASHC5,WASHC5-AS1 | c.2771C>A (p.Ala924Glu) c.2327C>A (p.Ala776Glu) n.97-595G>T | |
8 | g.125043905C>A | CA372187461 | WASHC5,WASHC5-AS1 | c.2771-1G>T (n.2771-1G>T) c.2327-1G>T (n.2327-1G>T) n.97-594C>A | |
8 | g.125043905C= | CA1817243917 | WASHC5,WASHC5-AS1 | c.2771-1G= (n.2771-1G=) c.2327-1G= (n.2327-1G=) n.97-594C= | |
8 | g.125043905C>G | CA372187465 | WASHC5,WASHC5-AS1 | c.2771-1G>C (n.2771-1G>C) c.2327-1G>C (n.2327-1G>C) n.97-594C>G | |
8 | g.125043905C>T | CA4873436 | WASHC5,WASHC5-AS1 | c.2771-1G>A (n.2771-1G>A) c.2327-1G>A (n.2327-1G>A) n.97-594C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125043906T>A | CA372187469 | WASHC5,WASHC5-AS1 | c.2771-2A>T (n.2771-2A>T) c.2327-2A>T (n.2327-2A>T) n.97-593T>A | |
8 | g.125043906T>C | CA372187472 | WASHC5,WASHC5-AS1 | c.2771-2A>G (n.2771-2A>G) c.2327-2A>G (n.2327-2A>G) n.97-593T>C | |
8 | g.125043906T>G | CA4873437 | WASHC5,WASHC5-AS1 | c.2771-2A>C (n.2771-2A>C) c.2327-2A>C (n.2327-2A>C) n.97-593T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125043906T= | CA1817243920 | WASHC5,WASHC5-AS1 | c.2771-2A= (n.2771-2A=) c.2327-2A= (n.2327-2A=) n.97-593T= | |
8 | g.125043909A>C | CA2688509402 | WASHC5,WASHC5-AS1 | c.2771-5T>G (n.2771-5T>G) c.2327-5T>G (n.2327-5T>G) n.97-590A>C | gnomAD v4 |
8 | g.125043909A>G | CA2688509403 | WASHC5,WASHC5-AS1 | c.2771-5T>C (n.2771-5T>C) c.2327-5T>C (n.2327-5T>C) n.97-590A>G | gnomAD v4 |
8 | g.125043910A>G | CA2688509404 | WASHC5,WASHC5-AS1 | c.2771-6T>C (n.2771-6T>C) c.2327-6T>C (n.2327-6T>C) n.97-589A>G | gnomAD v4 |
8 | g.125043911A= | CA1817243926 | WASHC5,WASHC5-AS1 | c.2771-7T= (n.2771-7T=) c.2327-7T= (n.2327-7T=) n.97-588A= | |
8 | g.125043911A>G | CA201930 | WASHC5,WASHC5-AS1 | c.2771-7T>C (n.2771-7T>C) c.2327-7T>C (n.2327-7T>C) n.97-588A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125043912G>C | CA585276421 | WASHC5,WASHC5-AS1 | c.2771-8C>G (n.2771-8C>G) c.2327-8C>G (n.2327-8C>G) n.97-587G>C | dbSNP gnomAD v2 gnomAD v4 |
8 | g.125043912G= | CA1817243938 | WASHC5,WASHC5-AS1 | c.2771-8C= (n.2771-8C=) c.2327-8C= (n.2327-8C=) n.97-587G= | |
8 | g.125043913T>C | CA1817243943 | WASHC5,WASHC5-AS1 | c.2771-9A>G (n.2771-9A>G) c.2327-9A>G (n.2327-9A>G) n.97-586T>C | dbSNP |
8 | g.125043913T= | CA1817243941 | WASHC5,WASHC5-AS1 | c.2771-9A= (n.2771-9A=) c.2327-9A= (n.2327-9A=) n.97-586T= | |
8 | g.125043914T>G | CA4873438 | WASHC5,WASHC5-AS1 | c.2771-10A>C (n.2771-10A>C) c.2327-10A>C (n.2327-10A>C) n.97-585T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125043914T= | CA1817243947 | WASHC5,WASHC5-AS1 | c.2771-10A= (n.2771-10A=) c.2327-10A= (n.2327-10A=) n.97-585T= | |
8 | g.125043915A= | CA1817243951 | WASHC5,WASHC5-AS1 | c.2771-11T= (n.2771-11T=) c.2327-11T= (n.2327-11T=) n.97-584A= | |
8 | g.125043915A>G | CA1817243953 | WASHC5,WASHC5-AS1 | c.2771-11T>C (n.2771-11T>C) c.2327-11T>C (n.2327-11T>C) n.97-584A>G | dbSNP |
8 | g.125043918A>C | CA2688509405 | WASHC5,WASHC5-AS1 | c.2771-14T>G (n.2771-14T>G) c.2327-14T>G (n.2327-14T>G) n.97-581A>C | gnomAD v4 |
8 | g.125043919C>A | CA2688509406 | WASHC5,WASHC5-AS1 | c.2771-15G>T (n.2771-15G>T) c.2327-15G>T (n.2327-15G>T) n.97-580C>A | gnomAD v4 |
8 | g.125043919C= | CA1817243962 | WASHC5,WASHC5-AS1 | c.2771-15G= (n.2771-15G=) c.2327-15G= (n.2327-15G=) n.97-580C= | |
8 | g.125043919C>G | CA1817243964 | WASHC5,WASHC5-AS1 | c.2771-15G>C (n.2771-15G>C) c.2327-15G>C (n.2327-15G>C) n.97-580C>G | dbSNP |
8 | g.125043919C>T | CA2688509407 | WASHC5,WASHC5-AS1 | c.2771-15G>A (n.2771-15G>A) c.2327-15G>A (n.2327-15G>A) n.97-580C>T | gnomAD v4 |
8 | g.125043920A= | CA1817243968 | WASHC5,WASHC5-AS1 | c.2771-16T= (n.2771-16T=) c.2327-16T= (n.2327-16T=) n.97-579A= | |
8 | g.125043920A>G | CA4873439 | WASHC5,WASHC5-AS1 | c.2771-16T>C (n.2771-16T>C) c.2327-16T>C (n.2327-16T>C) n.97-579A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.125043920_125043921delinsAT | CA1817243971 | WASHC5,WASHC5-AS1 | c.2771-17_2771-16delinsAT (n.2771-17_2771-16delinsAT) c.2327-17_2327-16delinsAT (n.2327-17_2327-16delinsAT) n.97-579_97-578delinsAT | |
8 | g.125043921del | CA846920590 | WASHC5,WASHC5-AS1 | c.2771-17del (n.2771-17del) c.2327-17del (n.2327-17del) n.97-578del | dbSNP gnomAD v4 |
8 | g.125043921T>C | CA585276422 | WASHC5,WASHC5-AS1 | c.2771-17A>G (n.2771-17A>G) c.2327-17A>G (n.2327-17A>G) n.97-578T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.125043921T>G | CA2688509408 | WASHC5,WASHC5-AS1 | c.2771-17A>C (n.2771-17A>C) c.2327-17A>C (n.2327-17A>C) n.97-578T>G | gnomAD v4 |
8 | g.125043921T= | CA1817243976 | WASHC5,WASHC5-AS1 | c.2771-17A= (n.2771-17A=) c.2327-17A= (n.2327-17A=) n.97-578T= | |
8 | g.125043923A= | CA1817243978 | WASHC5,WASHC5-AS1 | c.2771-19T= (n.2771-19T=) c.2327-19T= (n.2327-19T=) n.97-576A= | |
8 | g.125043923A>G | CA185293442 | WASHC5,WASHC5-AS1 | c.2771-19T>C (n.2771-19T>C) c.2327-19T>C (n.2327-19T>C) n.97-576A>G | dbSNP gnomAD v4 |
8 | g.125043926T>G | CA846920596 | WASHC5,WASHC5-AS1 | c.2771-22A>C (n.2771-22A>C) c.2327-22A>C (n.2327-22A>C) n.97-573T>G | dbSNP gnomAD v3 gnomAD v4 |
8 | g.125043926T= | CA1817243981 | WASHC5,WASHC5-AS1 | c.2771-22A= (n.2771-22A=) c.2327-22A= (n.2327-22A=) n.97-573T= | |
8 | g.125043927T>C | CA2688509409 | WASHC5,WASHC5-AS1 | c.2771-23A>G (n.2771-23A>G) c.2327-23A>G (n.2327-23A>G) n.97-572T>C | gnomAD v4 |