Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38575440G>A | CA017218 | SCN5A | c.3520C>T (p.Arg1174Cys) c.3523C>T (p.Arg1175Cys) c.3361C>T (p.Arg1121Cys) c.3394C>T (p.Arg1132Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575440G>C | CA352138282 | SCN5A | c.3520C>G (p.Arg1174Gly) c.3523C>G (p.Arg1175Gly) c.3361C>G (p.Arg1121Gly) c.3394C>G (p.Arg1132Gly) | ClinVar |
3 | g.38575440G= | CA1358572595 | SCN5A | c.3520C= (p.Arg1174=) c.3523C= (p.Arg1175=) c.3361C= (p.Arg1121=) c.3394C= (p.Arg1132=) | |
3 | g.38575440G>T | CA352138283 | SCN5A | c.3520C>A (p.Arg1174Ser) c.3523C>A (p.Arg1175Ser) c.3361C>A (p.Arg1121Ser) c.3394C>A (p.Arg1132Ser) | |
3 | g.38575441C>A | CA433134082 | SCN5A | c.3519G>T (p.Arg1173=) c.3522G>T (p.Arg1174=) c.3360G>T (p.Arg1120=) c.3393G>T (p.Arg1131=) | gnomAD v4 |
3 | g.38575441C= | CA1358572596 | SCN5A | c.3519G= (p.Arg1173=) c.3522G= (p.Arg1174=) c.3360G= (p.Arg1120=) c.3393G= (p.Arg1131=) | |
3 | g.38575441C>G | CA433134083 | SCN5A | c.3519G>C (p.Arg1173=) c.3522G>C (p.Arg1174=) c.3360G>C (p.Arg1120=) c.3393G>C (p.Arg1131=) | |
3 | g.38575441C>T | CA433134084 | SCN5A | c.3519G>A (p.Arg1173=) c.3522G>A (p.Arg1174=) c.3360G>A (p.Arg1120=) c.3393G>A (p.Arg1131=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575442del | CA2665112177 | SCN5A | c.3519del (p.Arg1174AlafsTer?) c.3522del (p.Arg1175AlafsTer?) c.3360del (p.Arg1121AlafsTer?) c.3393del (p.Arg1132AlafsTer?) | gnomAD v4 |
3 | g.38575442C>A | CA352138284 | SCN5A | c.3518G>T (p.Arg1173Leu) c.3521G>T (p.Arg1174Leu) c.3359G>T (p.Arg1120Leu) c.3392G>T (p.Arg1131Leu) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575442C= | CA1358572597 | SCN5A | c.3518G= (p.Arg1173=) c.3521G= (p.Arg1174=) c.3359G= (p.Arg1120=) c.3392G= (p.Arg1131=) | |
3 | g.38575442C>G | CA352138285 | SCN5A | c.3518G>C (p.Arg1173Pro) c.3521G>C (p.Arg1174Pro) c.3359G>C (p.Arg1120Pro) c.3392G>C (p.Arg1131Pro) | |
3 | g.38575442C>T | CA061967 | SCN5A | c.3518G>A (p.Arg1173Gln) c.3521G>A (p.Arg1174Gln) c.3359G>A (p.Arg1120Gln) c.3392G>A (p.Arg1131Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575443G>A | CA061963 | SCN5A | c.3517C>T (p.Arg1173Trp) c.3520C>T (p.Arg1174Trp) c.3358C>T (p.Arg1120Trp) c.3391C>T (p.Arg1131Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575443G>C | CA352138286 | SCN5A | c.3517C>G (p.Arg1173Gly) c.3520C>G (p.Arg1174Gly) c.3358C>G (p.Arg1120Gly) c.3391C>G (p.Arg1131Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575443G= | CA1358572598 | SCN5A | c.3517C= (p.Arg1173=) c.3520C= (p.Arg1174=) c.3358C= (p.Arg1120=) c.3391C= (p.Arg1131=) | |
3 | g.38575443G>T | CA433134085 | SCN5A | c.3517C>A (p.Arg1173=) c.3520C>A (p.Arg1174=) c.3358C>A (p.Arg1120=) c.3391C>A (p.Arg1131=) | gnomAD v4 |
3 | g.38575444G>A | CA433134086 | SCN5A | c.3516C>T (p.Val1172=) c.3519C>T (p.Val1173=) c.3357C>T (p.Val1119=) c.3390C>T (p.Val1130=) | |
3 | g.38575444G>C | CA433134087 | SCN5A | c.3516C>G (p.Val1172=) c.3519C>G (p.Val1173=) c.3357C>G (p.Val1119=) c.3390C>G (p.Val1130=) | |
3 | g.38575444G>T | CA433134088 | SCN5A | c.3516C>A (p.Val1172=) c.3519C>A (p.Val1173=) c.3357C>A (p.Val1119=) c.3390C>A (p.Val1130=) | gnomAD v4 |
3 | g.38575444_38575446delinsGAC | CA1358572599 | SCN5A | c.3514_3516delinsGTC (p.Val1172=) c.3517_3519delinsGTC (p.Val1173=) c.3355_3357delinsGTC (p.Val1119=) c.3388_3390delinsGTC (p.Val1130=) | |
3 | g.38575445A= | CA1358572600 | SCN5A | c.3515T= (p.Val1172=) c.3518T= (p.Val1173=) c.3356T= (p.Val1119=) c.3389T= (p.Val1130=) | |
3 | g.38575445A>C | CA352138287 | SCN5A | c.3515T>G (p.Val1172Gly) c.3518T>G (p.Val1173Gly) c.3356T>G (p.Val1119Gly) c.3389T>G (p.Val1130Gly) | |
3 | g.38575445A>G | CA352138288 | SCN5A | c.3515T>C (p.Val1172Ala) c.3518T>C (p.Val1173Ala) c.3356T>C (p.Val1119Ala) c.3389T>C (p.Val1130Ala) | |
3 | g.38575445A>T | CA061959 | SCN5A | c.3515T>A (p.Val1172Asp) c.3518T>A (p.Val1173Asp) c.3356T>A (p.Val1119Asp) c.3389T>A (p.Val1130Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575448_38575449del | CA017210 | SCN5A | c.3514_3515del (p.Val1172ProfsTer?) c.3517_3518del (p.Val1173ProfsTer?) c.3355_3356del (p.Val1119ProfsTer?) c.3388_3389del (p.Val1130ProfsTer?) | ClinVar dbSNP |
3 | g.38575446C>A | CA352138290 | SCN5A | c.3514G>T (p.Val1172Phe) c.3517G>T (p.Val1173Phe) c.3355G>T (p.Val1119Phe) c.3388G>T (p.Val1130Phe) | gnomAD v4 |
3 | g.38575446C= | CA1358572601 | SCN5A | c.3514G= (p.Val1172=) c.3517G= (p.Val1173=) c.3355G= (p.Val1119=) c.3388G= (p.Val1130=) | |
3 | g.38575446C>G | CA352138291 | SCN5A | c.3514G>C (p.Val1172Leu) c.3517G>C (p.Val1173Leu) c.3355G>C (p.Val1119Leu) c.3388G>C (p.Val1130Leu) | gnomAD v4 |
3 | g.38575446C>T | CA352138289 | SCN5A | c.3514G>A (p.Val1172Ile) c.3517G>A (p.Val1173Ile) c.3355G>A (p.Val1119Ile) c.3388G>A (p.Val1130Ile) | ClinVar dbSNP |
3 | g.38575447A= | CA1358572602 | SCN5A | c.3513T= (p.Cys1171=) c.3516T= (p.Cys1172=) c.3354T= (p.Cys1118=) c.3387T= (p.Cys1129=) | |
3 | g.38575447A>C | CA352138293 | SCN5A | c.3513T>G (p.Cys1171Trp) c.3516T>G (p.Cys1172Trp) c.3354T>G (p.Cys1118Trp) c.3387T>G (p.Cys1129Trp) | |
3 | g.38575447A>G | CA433134089 | SCN5A | c.3513T>C (p.Cys1171=) c.3516T>C (p.Cys1172=) c.3354T>C (p.Cys1118=) c.3387T>C (p.Cys1129=) | ClinVar |
3 | g.38575447A>T | CA352138292 | SCN5A | c.3513T>A (p.Cys1171Ter) c.3516T>A (p.Cys1172Ter) c.3354T>A (p.Cys1118Ter) c.3387T>A (p.Cys1129Ter) | dbSNP |
3 | g.38575448C>A | CA352138295 | SCN5A | c.3512G>T (p.Cys1171Phe) c.3515G>T (p.Cys1172Phe) c.3353G>T (p.Cys1118Phe) c.3386G>T (p.Cys1129Phe) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575448C= | CA1358572603 | SCN5A | c.3512G= (p.Cys1171=) c.3515G= (p.Cys1172=) c.3353G= (p.Cys1118=) c.3386G= (p.Cys1129=) | |
3 | g.38575448C>G | CA352138294 | SCN5A | c.3512G>C (p.Cys1171Ser) c.3515G>C (p.Cys1172Ser) c.3353G>C (p.Cys1118Ser) c.3386G>C (p.Cys1129Ser) | gnomAD v4 |
3 | g.38575448C>T | CA352138296 | SCN5A | c.3512G>A (p.Cys1171Tyr) c.3515G>A (p.Cys1172Tyr) c.3353G>A (p.Cys1118Tyr) c.3386G>A (p.Cys1129Tyr) | gnomAD v4 |
3 | g.38575449A>C | CA352138297 | SCN5A | c.3511T>G (p.Cys1171Gly) c.3514T>G (p.Cys1172Gly) c.3352T>G (p.Cys1118Gly) c.3385T>G (p.Cys1129Gly) | |
3 | g.38575449A>G | CA352138299 | SCN5A | c.3511T>C (p.Cys1171Arg) c.3514T>C (p.Cys1172Arg) c.3352T>C (p.Cys1118Arg) c.3385T>C (p.Cys1129Arg) | |
3 | g.38575449A>T | CA352138298 | SCN5A | c.3511T>A (p.Cys1171Ser) c.3514T>A (p.Cys1172Ser) c.3352T>A (p.Cys1118Ser) c.3385T>A (p.Cys1129Ser) | gnomAD v4 |
3 | g.38575450G>A | CA433134090 | SCN5A | c.3510C>T (p.Gly1170=) c.3513C>T (p.Gly1171=) c.3351C>T (p.Gly1117=) c.3384C>T (p.Gly1128=) | gnomAD v4 |
3 | g.38575450G>C | CA433134091 | SCN5A | c.3510C>G (p.Gly1170=) c.3513C>G (p.Gly1171=) c.3351C>G (p.Gly1117=) c.3384C>G (p.Gly1128=) | |
3 | g.38575450G>T | CA433134092 | SCN5A | c.3510C>A (p.Gly1170=) c.3513C>A (p.Gly1171=) c.3351C>A (p.Gly1117=) c.3384C>A (p.Gly1128=) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575451C>A | CA352138300 | SCN5A | c.3509G>T (p.Gly1170Val) c.3512G>T (p.Gly1171Val) c.3350G>T (p.Gly1117Val) c.3383G>T (p.Gly1128Val) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575451C= | CA1358572604 | SCN5A | c.3509G= (p.Gly1170=) c.3512G= (p.Gly1171=) c.3350G= (p.Gly1117=) c.3383G= (p.Gly1128=) | |
3 | g.38575451C>G | CA352138301 | SCN5A | c.3509G>C (p.Gly1170Ala) c.3512G>C (p.Gly1171Ala) c.3350G>C (p.Gly1117Ala) c.3383G>C (p.Gly1128Ala) | |
3 | g.38575451C>T | CA10582192 | SCN5A | c.3509G>A (p.Gly1170Asp) c.3512G>A (p.Gly1171Asp) c.3350G>A (p.Gly1117Asp) c.3383G>A (p.Gly1128Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.38575452C>A | CA352138302 | SCN5A | c.3509-1G>T (n.3509-1G>T) c.3512-1G>T (n.3512-1G>T) c.3350-1G>T (n.3350-1G>T) c.3383-1G>T (n.3383-1G>T) | gnomAD v4 |
3 | g.38575452C= | CA1358572605 | SCN5A | c.3509-1G= (n.3509-1G=) c.3512-1G= (n.3512-1G=) c.3350-1G= (n.3350-1G=) c.3383-1G= (n.3383-1G=) |