| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38576680T>A | CA433134113 | SCN5A | c.3489A>T (p.Pro1163=) c.3492A>T (p.Pro1164=) c.3330A>T (p.Pro1110=) c.3363A>T (p.Pro1121=) | |
| 3 | g.38576680T>C | CA433134114 | SCN5A | c.3489A>G (p.Pro1163=) c.3492A>G (p.Pro1164=) c.3330A>G (p.Pro1110=) c.3363A>G (p.Pro1121=) | gnomAD v4 |
| 3 | g.38576680T>G | CA433134112 | SCN5A | c.3489A>C (p.Pro1163=) c.3492A>C (p.Pro1164=) c.3330A>C (p.Pro1110=) c.3363A>C (p.Pro1121=) | |
| 3 | g.38576680T= | CA1358573152 | SCN5A | c.3489A= (p.Pro1163=) c.3492A= (p.Pro1164=) c.3330A= (p.Pro1110=) c.3363A= (p.Pro1121=) | |
| 3 | g.38576681G>A | CA10582193 | SCN5A | c.3488C>T (p.Pro1163Leu) c.3491C>T (p.Pro1164Leu) c.3329C>T (p.Pro1110Leu) c.3362C>T (p.Pro1121Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38576681G>C | CA352138359 | SCN5A | c.3488C>G (p.Pro1163Arg) c.3491C>G (p.Pro1164Arg) c.3329C>G (p.Pro1110Arg) c.3362C>G (p.Pro1121Arg) | |
| 3 | g.38576681G= | CA1358573153 | SCN5A | c.3488C= (p.Pro1163=) c.3491C= (p.Pro1164=) c.3329C= (p.Pro1110=) c.3362C= (p.Pro1121=) | |
| 3 | g.38576681G>T | CA352138360 | SCN5A | c.3488C>A (p.Pro1163Gln) c.3491C>A (p.Pro1164Gln) c.3329C>A (p.Pro1110Gln) c.3362C>A (p.Pro1121Gln) | |
| 3 | g.38576683dup | CA307962 | SCN5A | c.3488dup (p.Glu1164ArgfsTer6) c.3491dup (p.Glu1165ArgfsTer6) c.3329dup (p.Glu1111ArgfsTer6) c.3362dup (p.Glu1122ArgfsTer6) | ClinVar dbSNP |
| 3 | g.38576682G>A | CA352138361 | SCN5A | c.3487C>T (p.Pro1163Ser) c.3490C>T (p.Pro1164Ser) c.3328C>T (p.Pro1110Ser) c.3361C>T (p.Pro1121Ser) | |
| 3 | g.38576682G>C | CA352138362 | SCN5A | c.3487C>G (p.Pro1163Ala) c.3490C>G (p.Pro1164Ala) c.3328C>G (p.Pro1110Ala) c.3361C>G (p.Pro1121Ala) | |
| 3 | g.38576682G= | CA1358573154 | SCN5A | c.3487C= (p.Pro1163=) c.3490C= (p.Pro1164=) c.3328C= (p.Pro1110=) c.3361C= (p.Pro1121=) | |
| 3 | g.38576682G>T | CA352138363 | SCN5A | c.3487C>A (p.Pro1163Thr) c.3490C>A (p.Pro1164Thr) c.3328C>A (p.Pro1110Thr) c.3361C>A (p.Pro1121Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38576683G>A | CA433134117 | SCN5A | c.3486C>T (p.Asp1162=) c.3489C>T (p.Asp1163=) c.3327C>T (p.Asp1109=) c.3360C>T (p.Asp1120=) | |
| 3 | g.38576683G>C | CA352138365 | SCN5A | c.3486C>G (p.Asp1162Glu) c.3489C>G (p.Asp1163Glu) c.3327C>G (p.Asp1109Glu) c.3360C>G (p.Asp1120Glu) | |
| 3 | g.38576683G>T | CA352138364 | SCN5A | c.3486C>A (p.Asp1162Glu) c.3489C>A (p.Asp1163Glu) c.3327C>A (p.Asp1109Glu) c.3360C>A (p.Asp1120Glu) | |
| 3 | g.38576684T>A | CA352138366 | SCN5A | c.3485A>T (p.Asp1162Val) c.3488A>T (p.Asp1163Val) c.3326A>T (p.Asp1109Val) c.3359A>T (p.Asp1120Val) | |
| 3 | g.38576684T>C | CA352138367 | SCN5A | c.3485A>G (p.Asp1162Gly) c.3488A>G (p.Asp1163Gly) c.3326A>G (p.Asp1109Gly) c.3359A>G (p.Asp1120Gly) | dbSNP gnomAD v4 |
| 3 | g.38576684T>G | CA352138368 | SCN5A | c.3485A>C (p.Asp1162Ala) c.3488A>C (p.Asp1163Ala) c.3326A>C (p.Asp1109Ala) c.3359A>C (p.Asp1120Ala) | |
| 3 | g.38576684T= | CA1358573155 | SCN5A | c.3485A= (p.Asp1162=) c.3488A= (p.Asp1163=) c.3326A= (p.Asp1109=) c.3359A= (p.Asp1120=) | |
| 3 | g.38576685C>A | CA72923946 | SCN5A | c.3484G>T (p.Asp1162Tyr) c.3487G>T (p.Asp1163Tyr) c.3325G>T (p.Asp1109Tyr) c.3358G>T (p.Asp1120Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38576685C= | CA1358573156 | SCN5A | c.3484G= (p.Asp1162=) c.3487G= (p.Asp1163=) c.3325G= (p.Asp1109=) c.3358G= (p.Asp1120=) | |
| 3 | g.38576685C>G | CA352138369 | SCN5A | c.3484G>C (p.Asp1162His) c.3487G>C (p.Asp1163His) c.3325G>C (p.Asp1109His) c.3358G>C (p.Asp1120His) | |
| 3 | g.38576685C>T | CA352138370 | SCN5A | c.3484G>A (p.Asp1162Asn) c.3487G>A (p.Asp1163Asn) c.3325G>A (p.Asp1109Asn) c.3358G>A (p.Asp1120Asn) | |
| 3 | g.38576686C>A | CA352138372 | SCN5A | c.3483G>T (p.Lys1161Asn) c.3486G>T (p.Lys1162Asn) c.3324G>T (p.Lys1108Asn) c.3357G>T (p.Lys1119Asn) | |
| 3 | g.38576686C>G | CA352138371 | SCN5A | c.3483G>C (p.Lys1161Asn) c.3486G>C (p.Lys1162Asn) c.3324G>C (p.Lys1108Asn) c.3357G>C (p.Lys1119Asn) | |
| 3 | g.38576686C>T | CA433134120 | SCN5A | c.3483G>A (p.Lys1161=) c.3486G>A (p.Lys1162=) c.3324G>A (p.Lys1108=) c.3357G>A (p.Lys1119=) | |
| 3 | g.38576687T>A | CA352138373 | SCN5A | c.3482A>T (p.Lys1161Met) c.3485A>T (p.Lys1162Met) c.3323A>T (p.Lys1108Met) c.3356A>T (p.Lys1119Met) | |
| 3 | g.38576687T>C | CA352138374 | SCN5A | c.3482A>G (p.Lys1161Arg) c.3485A>G (p.Lys1162Arg) c.3323A>G (p.Lys1108Arg) c.3356A>G (p.Lys1119Arg) | |
| 3 | g.38576687T>G | CA352138375 | SCN5A | c.3482A>C (p.Lys1161Thr) c.3485A>C (p.Lys1162Thr) c.3323A>C (p.Lys1108Thr) c.3356A>C (p.Lys1119Thr) | |
| 3 | g.38576688T>A | CA352138376 | SCN5A | c.3481A>T (p.Lys1161Ter) c.3484A>T (p.Lys1162Ter) c.3322A>T (p.Lys1108Ter) c.3355A>T (p.Lys1119Ter) | dbSNP |
| 3 | g.38576688T>C | CA352138377 | SCN5A | c.3481A>G (p.Lys1161Glu) c.3484A>G (p.Lys1162Glu) c.3322A>G (p.Lys1108Glu) c.3355A>G (p.Lys1119Glu) | |
| 3 | g.38576688T>G | CA352138378 | SCN5A | c.3481A>C (p.Lys1161Gln) c.3484A>C (p.Lys1162Gln) c.3322A>C (p.Lys1108Gln) c.3355A>C (p.Lys1119Gln) | |
| 3 | g.38576688T= | CA1358573157 | SCN5A | c.3481A= (p.Lys1161=) c.3484A= (p.Lys1162=) c.3322A= (p.Lys1108=) c.3355A= (p.Lys1119=) | |
| 3 | g.38576689G>A | CA433134124 | SCN5A | c.3480C>T (p.Val1160=) c.3483C>T (p.Val1161=) c.3321C>T (p.Val1107=) c.3354C>T (p.Val1118=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38576689G>C | CA433134125 | SCN5A | c.3480C>G (p.Val1160=) c.3483C>G (p.Val1161=) c.3321C>G (p.Val1107=) c.3354C>G (p.Val1118=) | COSMIC COSMIC COSMIC |
| 3 | g.38576689G= | CA1358573158 | SCN5A | c.3480C= (p.Val1160=) c.3483C= (p.Val1161=) c.3321C= (p.Val1107=) c.3354C= (p.Val1118=) | |
| 3 | g.38576689G>T | CA433134126 | SCN5A | c.3480C>A (p.Val1160=) c.3483C>A (p.Val1161=) c.3321C>A (p.Val1107=) c.3354C>A (p.Val1118=) | gnomAD v4 |
| 3 | g.38576690A>C | CA352138381 | SCN5A | c.3479T>G (p.Val1160Gly) c.3482T>G (p.Val1161Gly) c.3320T>G (p.Val1107Gly) c.3353T>G (p.Val1118Gly) | |
| 3 | g.38576690A>G | CA352138379 | SCN5A | c.3479T>C (p.Val1160Ala) c.3482T>C (p.Val1161Ala) c.3320T>C (p.Val1107Ala) c.3353T>C (p.Val1118Ala) | |
| 3 | g.38576690A>T | CA352138380 | SCN5A | c.3479T>A (p.Val1160Asp) c.3482T>A (p.Val1161Asp) c.3320T>A (p.Val1107Asp) c.3353T>A (p.Val1118Asp) | |
| 3 | g.38576691C>A | CA352138382 | SCN5A | c.3478G>T (p.Val1160Phe) c.3481G>T (p.Val1161Phe) c.3319G>T (p.Val1107Phe) c.3352G>T (p.Val1118Phe) | |
| 3 | g.38576691C>G | CA352138383 | SCN5A | c.3478G>C (p.Val1160Leu) c.3481G>C (p.Val1161Leu) c.3319G>C (p.Val1107Leu) c.3352G>C (p.Val1118Leu) | |
| 3 | g.38576691C>T | CA352138384 | SCN5A | c.3478G>A (p.Val1160Ile) c.3481G>A (p.Val1161Ile) c.3319G>A (p.Val1107Ile) c.3352G>A (p.Val1118Ile) | |
| 3 | g.38576692del | CA2586972095 | SCN5A | c.3477del (p.Asp1159GlufsTer?) c.3480del (p.Asp1160GlufsTer?) c.3318del (p.Asp1106GlufsTer?) c.3351del (p.Asp1117GlufsTer?) | |
| 3 | g.38576692A>C | CA352138385 | SCN5A | c.3477T>G (p.Asp1159Glu) c.3480T>G (p.Asp1160Glu) c.3318T>G (p.Asp1106Glu) c.3351T>G (p.Asp1117Glu) | |
| 3 | g.38576692A>G | CA433134130 | SCN5A | c.3477T>C (p.Asp1159=) c.3480T>C (p.Asp1160=) c.3318T>C (p.Asp1106=) c.3351T>C (p.Asp1117=) | |
| 3 | g.38576692A>T | CA352138386 | SCN5A | c.3477T>A (p.Asp1159Glu) c.3480T>A (p.Asp1160Glu) c.3318T>A (p.Asp1106Glu) c.3351T>A (p.Asp1117Glu) | |
| 3 | g.38576693T>A | CA352138387 | SCN5A | c.3476A>T (p.Asp1159Val) c.3479A>T (p.Asp1160Val) c.3317A>T (p.Asp1106Val) c.3350A>T (p.Asp1117Val) | |
| 3 | g.38576693T>C | CA352138388 | SCN5A | c.3476A>G (p.Asp1159Gly) c.3479A>G (p.Asp1160Gly) c.3317A>G (p.Asp1106Gly) c.3350A>G (p.Asp1117Gly) | dbSNP |