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.38580973A= | CA1358576191 | SCN5A | c.3186T= (p.Asp1062=) c.3057T= (p.Asp1019=) | |
3 | g.38580973A>C | CA352139112 | SCN5A | c.3186T>G (p.Asp1062Glu) c.3057T>G (p.Asp1019Glu) | |
3 | g.38580973A>G | CA433135046 | SCN5A | c.3186T>C (p.Asp1062=) c.3057T>C (p.Asp1019=) | |
3 | g.38580973A>T | CA352139114 | SCN5A | c.3186T>A (p.Asp1062Glu) c.3057T>A (p.Asp1019Glu) | ClinVar dbSNP |
3 | g.38580974T>A | CA352139116 | SCN5A | c.3185A>T (p.Asp1062Val) c.3056A>T (p.Asp1019Val) | |
3 | g.38580974T>C | CA352139118 | SCN5A | c.3185A>G (p.Asp1062Gly) c.3056A>G (p.Asp1019Gly) | |
3 | g.38580974T>G | CA352139119 | SCN5A | c.3185A>C (p.Asp1062Ala) c.3056A>C (p.Asp1019Ala) | |
3 | g.38580974T= | CA1358576193 | SCN5A | c.3185A= (p.Asp1062=) c.3056A= (p.Asp1019=) | |
3 | g.38580975C>A | CA352139123 | SCN5A | c.3184G>T (p.Asp1062Tyr) c.3055G>T (p.Asp1019Tyr) | COSMIC COSMIC COSMIC |
3 | g.38580975C= | CA1358576200 | SCN5A | c.3184G= (p.Asp1062=) c.3055G= (p.Asp1019=) | |
3 | g.38580975C>G | CA061346 | SCN5A | c.3184G>C (p.Asp1062His) c.3055G>C (p.Asp1019His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38580975C>T | CA352139120 | SCN5A | c.3184G>A (p.Asp1062Asn) c.3055G>A (p.Asp1019Asn) | dbSNP gnomAD v4 |
3 | g.38580975dup | CA916873504 | SCN5A | c.3184dup (p.Asp1062GlyfsTer2) c.3055dup (p.Asp1019GlyfsTer2) | ClinVar dbSNP |
3 | g.38580976T>A | CA352139126 | SCN5A | c.3183A>T (p.Glu1061Asp) c.3054A>T (p.Glu1018Asp) | dbSNP |
3 | g.38580976T>C | CA016886 | SCN5A | c.3183A>G (p.Glu1061=) c.3054A>G (p.Glu1018=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38580976T>G | CA061337 | SCN5A | c.3183A>C (p.Glu1061Asp) c.3054A>C (p.Glu1018Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38580976T= | CA1358576209 | SCN5A | c.3183A= (p.Glu1061=) c.3054A= (p.Glu1018=) | |
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 |