Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38580910_38580997delinsCATGCAGGGGTGAGGGCCCACCTGCTTGCTGGACTCCTCCTCCGTGCCCAGGCTGTTCTCCTCATCTTCTTCTTGGTCATCTGTGTCT | CA1358576032 | SCN5A | c.3162_3228+21delinsAGACACAGATGACCAAGAAGAAGATGAGGAGAACAGCCTGGGCACGGAGGAGGAGTCCAGCAAGCAGGTGGGCCCTCACCCCTGCATG c.3033_3099+21delinsAGACACAGATGACCAAGAAGAAGATGAGGAGAACAGCCTGGGCACGGAGGAGGAGTCCAGCAAGCAGGTGGGCCCTCACCCCTGCATG | |
3 | g.38580911_38580997del | CA1047003605 | SCN5A | c.3162_3228+20del c.3033_3099+20del | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38580977T>A | CA352139128 | SCN5A | c.3182A>T (p.Glu1061Val) c.3053A>T (p.Glu1018Val) | |
3 | g.38580977T>C | CA352139130 | SCN5A | c.3182A>G (p.Glu1061Gly) c.3053A>G (p.Glu1018Gly) | |
3 | g.38580977T>G | CA352139132 | SCN5A | c.3182A>C (p.Glu1061Ala) c.3053A>C (p.Glu1018Ala) | |
3 | g.38580978C>A | CA352139134 | SCN5A | c.3181G>T (p.Glu1061Ter) c.3052G>T (p.Glu1018Ter) | dbSNP gnomAD v4 |
3 | g.38580978C= | CA1358576214 | SCN5A | c.3181G= (p.Glu1061=) c.3052G= (p.Glu1018=) | |
3 | g.38580978C>G | CA352139136 | SCN5A | c.3181G>C (p.Glu1061Gln) c.3052G>C (p.Glu1018Gln) | |
3 | g.38580978C>T | CA352139138 | SCN5A | c.3181G>A (p.Glu1061Lys) c.3052G>A (p.Glu1018Lys) | |
3 | g.38580979T>A | CA352139140 | SCN5A | c.3180A>T (p.Glu1060Asp) c.3051A>T (p.Glu1017Asp) | |
3 | g.38580979T>C | CA433135063 | SCN5A | c.3180A>G (p.Glu1060=) c.3051A>G (p.Glu1017=) | |
3 | g.38580979T>G | CA352139141 | SCN5A | c.3180A>C (p.Glu1060Asp) c.3051A>C (p.Glu1017Asp) | |
3 | g.38580980T>A | CA352139143 | SCN5A | c.3179A>T (p.Glu1060Val) c.3050A>T (p.Glu1017Val) | |
3 | g.38580980T>C | CA352139145 | SCN5A | c.3179A>G (p.Glu1060Gly) c.3050A>G (p.Glu1017Gly) | |
3 | g.38580980T>G | CA352139147 | SCN5A | c.3179A>C (p.Glu1060Ala) c.3050A>C (p.Glu1017Ala) | |
3 | g.38580981C>A | CA352139152 | SCN5A | c.3178G>T (p.Glu1060Ter) c.3049G>T (p.Glu1017Ter) | dbSNP |
3 | g.38580981C= | CA1358576218 | SCN5A | c.3178G= (p.Glu1060=) c.3049G= (p.Glu1017=) | |
3 | g.38580981C>G | CA352139149 | SCN5A | c.3178G>C (p.Glu1060Gln) c.3049G>C (p.Glu1017Gln) | |
3 | g.38580981C>T | CA352139150 | SCN5A | c.3178G>A (p.Glu1060Lys) c.3049G>A (p.Glu1017Lys) | COSMIC COSMIC COSMIC |
3 | g.38580982T>A | CA352139154 | SCN5A | c.3177A>T (p.Gln1059His) c.3048A>T (p.Gln1016His) | |
3 | g.38580982T>C | CA433135075 | SCN5A | c.3177A>G (p.Gln1059=) c.3048A>G (p.Gln1016=) | |
3 | g.38580982T>G | CA352139155 | SCN5A | c.3177A>C (p.Gln1059His) c.3048A>C (p.Gln1016His) | |
3 | g.38580983T>A | CA352139156 | SCN5A | c.3176A>T (p.Gln1059Leu) c.3047A>T (p.Gln1016Leu) | |
3 | g.38580983T>C | CA352139158 | SCN5A | c.3176A>G (p.Gln1059Arg) c.3047A>G (p.Gln1016Arg) | |
3 | g.38580983T>G | CA352139159 | SCN5A | c.3176A>C (p.Gln1059Pro) c.3047A>C (p.Gln1016Pro) | |
3 | g.38580984G>A | CA352139161 | SCN5A | c.3175C>T (p.Gln1059Ter) c.3046C>T (p.Gln1016Ter) | ClinVar dbSNP |
3 | g.38580984G>C | CA352139163 | SCN5A | c.3175C>G (p.Gln1059Glu) c.3046C>G (p.Gln1016Glu) | |
3 | g.38580984G>T | CA352139165 | SCN5A | c.3175C>A (p.Gln1059Lys) c.3046C>A (p.Gln1016Lys) | |
3 | g.38580985G>A | CA433135079 | SCN5A | c.3174C>T (p.Asp1058=) c.3045C>T (p.Asp1015=) | |
3 | g.38580985G>C | CA352139167 | SCN5A | c.3174C>G (p.Asp1058Glu) c.3045C>G (p.Asp1015Glu) | |
3 | g.38580985G>T | CA352139168 | SCN5A | c.3174C>A (p.Asp1058Glu) c.3045C>A (p.Asp1015Glu) | COSMIC COSMIC COSMIC |
3 | g.38580986T>A | CA352139171 | SCN5A | c.3173A>T (p.Asp1058Val) c.3044A>T (p.Asp1015Val) | |
3 | g.38580986T>C | CA352139172 | SCN5A | c.3173A>G (p.Asp1058Gly) c.3044A>G (p.Asp1015Gly) | dbSNP |
3 | g.38580986T>G | CA72926107 | SCN5A | c.3173A>C (p.Asp1058Ala) c.3044A>C (p.Asp1015Ala) | ClinVar dbSNP |
3 | g.38580986T= | CA1358576224 | SCN5A | c.3173A= (p.Asp1058=) c.3044A= (p.Asp1015=) | |
3 | g.38580987C>A | CA352139178 | SCN5A | c.3172G>T (p.Asp1058Tyr) c.3043G>T (p.Asp1015Tyr) | gnomAD v4 |
3 | g.38580987C>G | CA352139180 | SCN5A | c.3172G>C (p.Asp1058His) c.3043G>C (p.Asp1015His) | |
3 | g.38580987C>T | CA352139176 | SCN5A | c.3172G>A (p.Asp1058Asn) c.3043G>A (p.Asp1015Asn) | |
3 | g.38580987_38580988delinsT | CA2586972013 | SCN5A | c.3171_3172delinsA (p.Asp1057GlufsTer?) c.3042_3043delinsA (p.Asp1014GlufsTer?) | |
3 | g.38580988A= | CA1358576227 | SCN5A | c.3171T= (p.Asp1057=) c.3042T= (p.Asp1014=) | |
3 | g.38580988A>C | CA352139183 | SCN5A | c.3171T>G (p.Asp1057Glu) c.3042T>G (p.Asp1014Glu) | |
3 | g.38580988A>G | CA433135087 | SCN5A | c.3171T>C (p.Asp1057=) c.3042T>C (p.Asp1014=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38580988A>T | CA352139185 | SCN5A | c.3171T>A (p.Asp1057Glu) c.3042T>A (p.Asp1014Glu) | |
3 | g.38580989T>A | CA352139186 | SCN5A | c.3170A>T (p.Asp1057Val) c.3041A>T (p.Asp1014Val) | |
3 | g.38580989T>C | CA352139187 | SCN5A | c.3170A>G (p.Asp1057Gly) c.3041A>G (p.Asp1014Gly) | |
3 | g.38580989T>G | CA352139190 | SCN5A | c.3170A>C (p.Asp1057Ala) c.3041A>C (p.Asp1014Ala) | |
3 | g.38580993_38580998del | CA2573052155 | SCN5A | c.3165_3170del (p.Thr1056_Asp1057del) c.3036_3041del (p.Thr1013_Asp1014del) | ClinVar dbSNP |
3 | g.38580990C>A | CA352139192 | SCN5A | c.3169G>T (p.Asp1057Tyr) c.3040G>T (p.Asp1014Tyr) | |
3 | g.38580990C= | CA1358576232 | SCN5A | c.3169G= (p.Asp1057=) c.3040G= (p.Asp1014=) | |
3 | g.38580990C>G | CA352139194 | SCN5A | c.3169G>C (p.Asp1057His) c.3040G>C (p.Asp1014His) |