Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38575347_38575386delinsAGCTGTGCTCCACGATGTGGTAGCAGGTCTTGCGCAACCG | CA1358572542 | SCN5A | c.3574_3613delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1192=) c.3577_3616delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1193=) c.3415_3454delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1139=) c.3448_3487delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1150=) | |
3 | g.38575348_38575386del | CA1047000738 | SCN5A | c.3574_3612del (p.Arg1192_Ser1204del) c.3577_3615del (p.Arg1193_Ser1205del) c.3415_3453del (p.Arg1139_Ser1151del) c.3448_3486del (p.Arg1150_Ser1162del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575385C>A | CA352138166 | SCN5A | c.3575G>T (p.Arg1192Leu) c.3578G>T (p.Arg1193Leu) c.3416G>T (p.Arg1139Leu) c.3449G>T (p.Arg1150Leu) | |
3 | g.38575385C= | CA1358572562 | SCN5A | c.3575G= (p.Arg1192=) c.3578G= (p.Arg1193=) c.3416G= (p.Arg1139=) c.3449G= (p.Arg1150=) | |
3 | g.38575385C>G | CA352138167 | SCN5A | c.3575G>C (p.Arg1192Pro) c.3578G>C (p.Arg1193Pro) c.3416G>C (p.Arg1139Pro) c.3449G>C (p.Arg1150Pro) | |
3 | g.38575385C>T | CA017287 | SCN5A | c.3575G>A (p.Arg1192Gln) c.3578G>A (p.Arg1193Gln) c.3416G>A (p.Arg1139Gln) c.3449G>A (p.Arg1150Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575386G>A | CA017280 | SCN5A | c.3574C>T (p.Arg1192Trp) c.3577C>T (p.Arg1193Trp) c.3415C>T (p.Arg1139Trp) c.3448C>T (p.Arg1150Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575386G>C | CA352138168 | SCN5A | c.3574C>G (p.Arg1192Gly) c.3577C>G (p.Arg1193Gly) c.3415C>G (p.Arg1139Gly) c.3448C>G (p.Arg1150Gly) | |
3 | g.38575386G= | CA1358572563 | SCN5A | c.3574C= (p.Arg1192=) c.3577C= (p.Arg1193=) c.3415C= (p.Arg1139=) c.3448C= (p.Arg1150=) | |
3 | g.38575386G>T | CA433134047 | SCN5A | c.3574C>A (p.Arg1192=) c.3577C>A (p.Arg1193=) c.3415C>A (p.Arg1139=) c.3448C>A (p.Arg1150=) | gnomAD v4 |
3 | g.38575387C>A | CA352138169 | SCN5A | c.3573G>T (p.Trp1191Cys) c.3576G>T (p.Trp1192Cys) c.3414G>T (p.Trp1138Cys) c.3447G>T (p.Trp1149Cys) | |
3 | g.38575387C= | CA1358572564 | SCN5A | c.3573G= (p.Trp1191=) c.3576G= (p.Trp1192=) c.3414G= (p.Trp1138=) c.3447G= (p.Trp1149=) | |
3 | g.38575387C>G | CA352138170 | SCN5A | c.3573G>C (p.Trp1191Cys) c.3576G>C (p.Trp1192Cys) c.3414G>C (p.Trp1138Cys) c.3447G>C (p.Trp1149Cys) | |
3 | g.38575387C>T | CA352138171 | SCN5A | c.3573G>A (p.Trp1191Ter) c.3576G>A (p.Trp1192Ter) c.3414G>A (p.Trp1138Ter) c.3447G>A (p.Trp1149Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.38575388C>A | CA352138172 | SCN5A | c.3572G>T (p.Trp1191Leu) c.3575G>T (p.Trp1192Leu) c.3413G>T (p.Trp1138Leu) c.3446G>T (p.Trp1149Leu) | gnomAD v4 |
3 | g.38575388C= | CA1358572565 | SCN5A | c.3572G= (p.Trp1191=) c.3575G= (p.Trp1192=) c.3413G= (p.Trp1138=) c.3446G= (p.Trp1149=) | |
3 | g.38575388C>G | CA352138173 | SCN5A | c.3572G>C (p.Trp1191Ser) c.3575G>C (p.Trp1192Ser) c.3413G>C (p.Trp1138Ser) c.3446G>C (p.Trp1149Ser) | |
3 | g.38575388C>T | CA017274 | SCN5A | c.3572G>A (p.Trp1191Ter) c.3575G>A (p.Trp1192Ter) c.3413G>A (p.Trp1138Ter) c.3446G>A (p.Trp1149Ter) | ClinVar dbSNP |
3 | g.38575389A>C | CA352138174 | SCN5A | c.3571T>G (p.Trp1191Gly) c.3574T>G (p.Trp1192Gly) c.3412T>G (p.Trp1138Gly) c.3445T>G (p.Trp1149Gly) | |
3 | g.38575389A>G | CA352138175 | SCN5A | c.3571T>C (p.Trp1191Arg) c.3574T>C (p.Trp1192Arg) c.3412T>C (p.Trp1138Arg) c.3445T>C (p.Trp1149Arg) | |
3 | g.38575389A>T | CA352138176 | SCN5A | c.3571T>A (p.Trp1191Arg) c.3574T>A (p.Trp1192Arg) c.3412T>A (p.Trp1138Arg) c.3445T>A (p.Trp1149Arg) | |
3 | g.38575390C>A | CA352138177 | SCN5A | c.3570G>T (p.Trp1190Cys) c.3573G>T (p.Trp1191Cys) c.3411G>T (p.Trp1137Cys) c.3444G>T (p.Trp1148Cys) | dbSNP gnomAD v2 |
3 | g.38575390C= | CA1358572566 | SCN5A | c.3570G= (p.Trp1190=) c.3573G= (p.Trp1191=) c.3411G= (p.Trp1137=) c.3444G= (p.Trp1148=) | |
3 | g.38575390C>G | CA352138178 | SCN5A | c.3570G>C (p.Trp1190Cys) c.3573G>C (p.Trp1191Cys) c.3411G>C (p.Trp1137Cys) c.3444G>C (p.Trp1148Cys) | |
3 | g.38575390C>T | CA352138179 | SCN5A | c.3570G>A (p.Trp1190Ter) c.3573G>A (p.Trp1191Ter) c.3411G>A (p.Trp1137Ter) c.3444G>A (p.Trp1148Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.38575391C>A | CA352138181 | SCN5A | c.3569G>T (p.Trp1190Leu) c.3572G>T (p.Trp1191Leu) c.3410G>T (p.Trp1137Leu) c.3443G>T (p.Trp1148Leu) | |
3 | g.38575391C>G | CA352138182 | SCN5A | c.3569G>C (p.Trp1190Ser) c.3572G>C (p.Trp1191Ser) c.3410G>C (p.Trp1137Ser) c.3443G>C (p.Trp1148Ser) | |
3 | g.38575391C>T | CA352138180 | SCN5A | c.3569G>A (p.Trp1190Ter) c.3572G>A (p.Trp1191Ter) c.3410G>A (p.Trp1137Ter) c.3443G>A (p.Trp1148Ter) | gnomAD v4 |
3 | g.38575392A>C | CA352138183 | SCN5A | c.3568T>G (p.Trp1190Gly) c.3571T>G (p.Trp1191Gly) c.3409T>G (p.Trp1137Gly) c.3442T>G (p.Trp1148Gly) | |
3 | g.38575392A>G | CA352138184 | SCN5A | c.3568T>C (p.Trp1190Arg) c.3571T>C (p.Trp1191Arg) c.3409T>C (p.Trp1137Arg) c.3442T>C (p.Trp1148Arg) | |
3 | g.38575392A>T | CA352138185 | SCN5A | c.3568T>A (p.Trp1190Arg) c.3571T>A (p.Trp1191Arg) c.3409T>A (p.Trp1137Arg) c.3442T>A (p.Trp1148Arg) | |
3 | g.38575393G>A | CA433134048 | SCN5A | c.3567C>T (p.Val1189=) c.3570C>T (p.Val1190=) c.3408C>T (p.Val1136=) c.3441C>T (p.Val1147=) | |
3 | g.38575393G>C | CA433134049 | SCN5A | c.3567C>G (p.Val1189=) c.3570C>G (p.Val1190=) c.3408C>G (p.Val1136=) c.3441C>G (p.Val1147=) | |
3 | g.38575393G>T | CA433134050 | SCN5A | c.3567C>A (p.Val1189=) c.3570C>A (p.Val1190=) c.3408C>A (p.Val1136=) c.3441C>A (p.Val1147=) | |
3 | g.38575394A>C | CA352138186 | SCN5A | c.3566T>G (p.Val1189Gly) c.3569T>G (p.Val1190Gly) c.3407T>G (p.Val1136Gly) c.3440T>G (p.Val1147Gly) | gnomAD v4 |
3 | g.38575394A>G | CA352138187 | SCN5A | c.3566T>C (p.Val1189Ala) c.3569T>C (p.Val1190Ala) c.3407T>C (p.Val1136Ala) c.3440T>C (p.Val1147Ala) | |
3 | g.38575394A>T | CA352138188 | SCN5A | c.3566T>A (p.Val1189Asp) c.3569T>A (p.Val1190Asp) c.3407T>A (p.Val1136Asp) c.3440T>A (p.Val1147Asp) | |
3 | g.38575395C>A | CA352138191 | SCN5A | c.3565G>T (p.Val1189Phe) c.3568G>T (p.Val1190Phe) c.3406G>T (p.Val1136Phe) c.3439G>T (p.Val1147Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575395C= | CA1358572567 | SCN5A | c.3565G= (p.Val1189=) c.3568G= (p.Val1190=) c.3406G= (p.Val1136=) c.3439G= (p.Val1147=) | |
3 | g.38575395C>G | CA352138189 | SCN5A | c.3565G>C (p.Val1189Leu) c.3568G>C (p.Val1190Leu) c.3406G>C (p.Val1136Leu) c.3439G>C (p.Val1147Leu) | dbSNP |
3 | g.38575395C>T | CA352138190 | SCN5A | c.3565G>A (p.Val1189Ile) c.3568G>A (p.Val1190Ile) c.3406G>A (p.Val1136Ile) c.3439G>A (p.Val1147Ile) | |
3 | g.38575396C>A | CA352138192 | SCN5A | c.3564G>T (p.Lys1188Asn) c.3567G>T (p.Lys1189Asn) c.3405G>T (p.Lys1135Asn) c.3438G>T (p.Lys1146Asn) | |
3 | g.38575396C= | CA1358572568 | SCN5A | c.3564G= (p.Lys1188=) c.3567G= (p.Lys1189=) c.3405G= (p.Lys1135=) c.3438G= (p.Lys1146=) | |
3 | g.38575396C>G | CA352138193 | SCN5A | c.3564G>C (p.Lys1188Asn) c.3567G>C (p.Lys1189Asn) c.3405G>C (p.Lys1135Asn) c.3438G>C (p.Lys1146Asn) | ClinVar dbSNP |
3 | g.38575396C>T | CA433134052 | SCN5A | c.3564G>A (p.Lys1188=) c.3567G>A (p.Lys1189=) c.3405G>A (p.Lys1135=) c.3438G>A (p.Lys1146=) | ClinVar dbSNP gnomAD v4 |
3 | g.38575397T>A | CA352138194 | SCN5A | c.3563A>T (p.Lys1188Met) c.3566A>T (p.Lys1189Met) c.3404A>T (p.Lys1135Met) c.3437A>T (p.Lys1146Met) | |
3 | g.38575397T>C | CA352138195 | SCN5A | c.3563A>G (p.Lys1188Arg) c.3566A>G (p.Lys1189Arg) c.3404A>G (p.Lys1135Arg) c.3437A>G (p.Lys1146Arg) | |
3 | g.38575397T>G | CA352138196 | SCN5A | c.3563A>C (p.Lys1188Thr) c.3566A>C (p.Lys1189Thr) c.3404A>C (p.Lys1135Thr) c.3437A>C (p.Lys1146Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575397T= | CA1358572569 | SCN5A | c.3563A= (p.Lys1188=) c.3566A= (p.Lys1189=) c.3404A= (p.Lys1135=) c.3437A= (p.Lys1146=) | |
3 | g.38575398T>A | CA352138199 | SCN5A | c.3562A>T (p.Lys1188Ter) c.3565A>T (p.Lys1189Ter) c.3403A>T (p.Lys1135Ter) c.3436A>T (p.Lys1146Ter) | dbSNP |