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.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) | |
3 | g.38580990C>T | CA352139195 | SCN5A | c.3169G>A (p.Asp1057Asn) c.3040G>A (p.Asp1014Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38580991T>A | CA433135093 | SCN5A | c.3168A>T (p.Thr1056=) c.3039A>T (p.Thr1013=) | |
3 | g.38580991T>C | CA433135094 | SCN5A | c.3168A>G (p.Thr1056=) c.3039A>G (p.Thr1013=) | dbSNP |
3 | g.38580991T>G | CA061330 | SCN5A | c.3168A>C (p.Thr1056=) c.3039A>C (p.Thr1013=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38580991T= | CA1358576237 | SCN5A | c.3168A= (p.Thr1056=) c.3039A= (p.Thr1013=) | |
3 | g.38580992G>A | CA352139199 | SCN5A | c.3167C>T (p.Thr1056Ile) c.3038C>T (p.Thr1013Ile) | |
3 | g.38580992G>C | CA352139201 | SCN5A | c.3167C>G (p.Thr1056Arg) c.3038C>G (p.Thr1013Arg) | |
3 | g.38580992G>T | CA352139203 | SCN5A | c.3167C>A (p.Thr1056Lys) c.3038C>A (p.Thr1013Lys) | |
3 | g.38580993T>A | CA352139205 | SCN5A | c.3166A>T (p.Thr1056Ser) c.3037A>T (p.Thr1013Ser) | |
3 | g.38580993T>C | CA352139207 | SCN5A | c.3166A>G (p.Thr1056Ala) c.3037A>G (p.Thr1013Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38580993T>G | CA352139209 | SCN5A | c.3166A>C (p.Thr1056Pro) c.3037A>C (p.Thr1013Pro) | |
3 | g.38580993T= | CA1358576242 | SCN5A | c.3166A= (p.Thr1056=) c.3037A= (p.Thr1013=) | |
3 | g.38580994G>A | CA433135107 | SCN5A | c.3165C>T (p.Asp1055=) c.3036C>T (p.Asp1012=) | |
3 | g.38580994G>C | CA352139211 | SCN5A | c.3165C>G (p.Asp1055Glu) c.3036C>G (p.Asp1012Glu) | |
3 | g.38580994G>T | CA352139213 | SCN5A | c.3165C>A (p.Asp1055Glu) c.3036C>A (p.Asp1012Glu) | |
3 | g.38580995T>A | CA352139215 | SCN5A | c.3164A>T (p.Asp1055Val) c.3035A>T (p.Asp1012Val) | |
3 | g.38580995T>C | CA016878 | SCN5A | c.3164A>G (p.Asp1055Gly) c.3035A>G (p.Asp1012Gly) | ClinVar dbSNP |
3 | g.38580995T>G | CA352139216 | SCN5A | c.3164A>C (p.Asp1055Ala) c.3035A>C (p.Asp1012Ala) | |
3 | g.38580995T= | CA1358576248 | SCN5A | c.3164A= (p.Asp1055=) c.3035A= (p.Asp1012=) | |
3 | g.38580996C>A | CA352139219 | SCN5A | c.3163G>T (p.Asp1055Tyr) c.3034G>T (p.Asp1012Tyr) |