UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47330388_47335387del | CA2740090117 | |||
| 11 | g.47332259_47335041del | CA2580084187 | MYBPC3 | c.2905+1_3628-1del c.2887+1_3610-1del c.2824+1_3547-1del | ClinVar |
| 11 | g.47332549_47332603del | CA2580084192 | MYBPC3 | c.3593_3627+20del c.3575_3609+20del c.3512_3546+20del | ClinVar |
| 11 | g.47332588_47332592dup | CA2580615677 | MYBPC3 | c.3607_3611dup (p.Arg1205LeufsTer?) c.3589_3593dup (p.Arg1199LeufsTer?) c.3526_3530dup (p.Arg1178LeufsTer?) | ClinVar |
| 11 | g.47332583_47332593delinsCAGCACAGCAG | CA1969334106 | MYBPC3 | c.3600_3610delinsCTGCTGTGCTG (p.Leu1200=) c.3582_3592delinsCTGCTGTGCTG (p.Leu1194=) c.3519_3529delinsCTGCTGTGCTG (p.Leu1173=) | |
| 11 | g.47332588_47332597dup | CA2580084197 | MYBPC3 | c.3600_3609dup (p.Val1204LeufsTer7) c.3582_3591dup (p.Val1198LeufsTer7) c.3519_3528dup (p.Val1177LeufsTer7) | ClinVar |
| 11 | g.47332588_47332597del | CA014440 | MYBPC3 | c.3600_3609del (p.Cys1201SerfsTer?) c.3582_3591del (p.Cys1195SerfsTer?) c.3519_3528del (p.Cys1174SerfsTer?) | ClinVar dbSNP |
| 11 | g.47332590G>A | CA474428929 | MYBPC3 | c.3603C>T (p.Cys1201=) c.3585C>T (p.Cys1195=) c.3522C>T (p.Cys1174=) | |
| 11 | g.47332590G>C | CA380312320 | MYBPC3 | c.3603C>G (p.Cys1201Trp) c.3585C>G (p.Cys1195Trp) c.3522C>G (p.Cys1174Trp) | |
| 11 | g.47332590G>T | CA380312328 | MYBPC3 | c.3603C>A (p.Cys1201Ter) c.3585C>A (p.Cys1195Ter) c.3522C>A (p.Cys1174Ter) | |
| 11 | g.47332591C>A | CA380312334 | MYBPC3 | c.3602G>T (p.Cys1201Phe) c.3584G>T (p.Cys1195Phe) c.3521G>T (p.Cys1174Phe) | |
| 11 | g.47332591C= | CA1969334146 | MYBPC3 | c.3602G= (p.Cys1201=) c.3584G= (p.Cys1195=) c.3521G= (p.Cys1174=) | |
| 11 | g.47332591C>G | CA380312337 | MYBPC3 | c.3602G>C (p.Cys1201Ser) c.3584G>C (p.Cys1195Ser) c.3521G>C (p.Cys1174Ser) | gnomAD v4 |
| 11 | g.47332591C>T | CA380312340 | MYBPC3 | c.3602G>A (p.Cys1201Tyr) c.3584G>A (p.Cys1195Tyr) c.3521G>A (p.Cys1174Tyr) | dbSNP |
| 11 | g.47332592A>C | CA380312343 | MYBPC3 | c.3601T>G (p.Cys1201Gly) c.3583T>G (p.Cys1195Gly) c.3520T>G (p.Cys1174Gly) | |
| 11 | g.47332592A>G | CA380312346 | MYBPC3 | c.3601T>C (p.Cys1201Arg) c.3583T>C (p.Cys1195Arg) c.3520T>C (p.Cys1174Arg) | |
| 11 | g.47332592A>T | CA380312348 | MYBPC3 | c.3601T>A (p.Cys1201Ser) c.3583T>A (p.Cys1195Ser) c.3520T>A (p.Cys1174Ser) | |
| 11 | g.47332593G>A | CA054468 | MYBPC3 | c.3600C>T (p.Leu1200=) c.3582C>T (p.Leu1194=) c.3519C>T (p.Leu1173=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47332593G>C | CA474428930 | MYBPC3 | c.3600C>G (p.Leu1200=) c.3582C>G (p.Leu1194=) c.3519C>G (p.Leu1173=) | |
| 11 | g.47332593G= | CA1969334149 | MYBPC3 | c.3600C= (p.Leu1200=) c.3582C= (p.Leu1194=) c.3519C= (p.Leu1173=) | |
| 11 | g.47332593G>T | CA474428931 | MYBPC3 | c.3600C>A (p.Leu1200=) c.3582C>A (p.Leu1194=) c.3519C>A (p.Leu1173=) | |
| 11 | g.47332594A= | CA1969334154 | MYBPC3 | c.3599T= (p.Leu1200=) c.3581T= (p.Leu1194=) c.3518T= (p.Leu1173=) | |
| 11 | g.47332594A>C | CA380312358 | MYBPC3 | c.3599T>G (p.Leu1200Arg) c.3581T>G (p.Leu1194Arg) c.3518T>G (p.Leu1173Arg) | |
| 11 | g.47332594A>G | CA014395 | MYBPC3 | c.3599T>C (p.Leu1200Pro) c.3581T>C (p.Leu1194Pro) c.3518T>C (p.Leu1173Pro) | ClinVar dbSNP |
| 11 | g.47332594A>T | CA380312352 | MYBPC3 | c.3599T>A (p.Leu1200His) c.3581T>A (p.Leu1194His) c.3518T>A (p.Leu1173His) | gnomAD v4 |
| 11 | g.47332595G>A | CA380312363 | MYBPC3 | c.3598C>T (p.Leu1200Phe) c.3580C>T (p.Leu1194Phe) c.3517C>T (p.Leu1173Phe) | |
| 11 | g.47332595G>C | CA380312366 | MYBPC3 | c.3598C>G (p.Leu1200Val) c.3580C>G (p.Leu1194Val) c.3517C>G (p.Leu1173Val) | |
| 11 | g.47332595G>T | CA380312369 | MYBPC3 | c.3598C>A (p.Leu1200Ile) c.3580C>A (p.Leu1194Ile) c.3517C>A (p.Leu1173Ile) | |
| 11 | g.47332596C>A | CA380312372 | MYBPC3 | c.3597G>T (p.Met1199Ile) c.3579G>T (p.Met1193Ile) c.3516G>T (p.Met1172Ile) | |
| 11 | g.47332596C= | CA1969334160 | MYBPC3 | c.3597G= (p.Met1199=) c.3579G= (p.Met1193=) c.3516G= (p.Met1172=) | |
| 11 | g.47332596C>G | CA380312376 | MYBPC3 | c.3597G>C (p.Met1199Ile) c.3579G>C (p.Met1193Ile) c.3516G>C (p.Met1172Ile) | dbSNP |
| 11 | g.47332596C>T | CA380312377 | MYBPC3 | c.3597G>A (p.Met1199Ile) c.3579G>A (p.Met1193Ile) c.3516G>A (p.Met1172Ile) | gnomAD v4 |
| 11 | g.47332597A>C | CA380312382 | MYBPC3 | c.3596T>G (p.Met1199Arg) c.3578T>G (p.Met1193Arg) c.3515T>G (p.Met1172Arg) | |
| 11 | g.47332597A>G | CA380312386 | MYBPC3 | c.3596T>C (p.Met1199Thr) c.3578T>C (p.Met1193Thr) c.3515T>C (p.Met1172Thr) | ClinVar |
| 11 | g.47332597A>T | CA380312388 | MYBPC3 | c.3596T>A (p.Met1199Lys) c.3578T>A (p.Met1193Lys) c.3515T>A (p.Met1172Lys) | |
| 11 | g.47332598_47332599del | CA2697548541 | MYBPC3 | c.3595_3596del (p.Met1199AlafsTer8) c.3577_3578del (p.Met1193AlafsTer8) c.3514_3515del (p.Met1172AlafsTer8) | ClinVar |
| 11 | g.47332598T>A | CA380312394 | MYBPC3 | c.3595A>T (p.Met1199Leu) c.3577A>T (p.Met1193Leu) c.3514A>T (p.Met1172Leu) | |
| 11 | g.47332598T>C | CA380312396 | MYBPC3 | c.3595A>G (p.Met1199Val) c.3577A>G (p.Met1193Val) c.3514A>G (p.Met1172Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47332598T>G | CA380312400 | MYBPC3 | c.3595A>C (p.Met1199Leu) c.3577A>C (p.Met1193Leu) c.3514A>C (p.Met1172Leu) | |
| 11 | g.47332598T= | CA1969334164 | MYBPC3 | c.3595A= (p.Met1199=) c.3577A= (p.Met1193=) c.3514A= (p.Met1172=) | |
| 11 | g.47332599A= | CA1969334168 | MYBPC3 | c.3594T= (p.Ala1198=) c.3576T= (p.Ala1192=) c.3513T= (p.Ala1171=) | |
| 11 | g.47332599A>C | CA474428932 | MYBPC3 | c.3594T>G (p.Ala1198=) c.3576T>G (p.Ala1192=) c.3513T>G (p.Ala1171=) | |
| 11 | g.47332599A>G | CA474428933 | MYBPC3 | c.3594T>C (p.Ala1198=) c.3576T>C (p.Ala1192=) c.3513T>C (p.Ala1171=) | dbSNP gnomAD v4 |
| 11 | g.47332599A>T | CA474428934 | MYBPC3 | c.3594T>A (p.Ala1198=) c.3576T>A (p.Ala1192=) c.3513T>A (p.Ala1171=) | |
| 11 | g.47332599_47332611delinsAGCAGTGTAGCCC | CA1969334167 | MYBPC3 | c.3582_3594delinsGGGCTACACTGCT (p.Ala1194=) c.3564_3576delinsGGGCTACACTGCT (p.Ala1188=) c.3501_3513delinsGGGCTACACTGCT (p.Ala1167=) | |
| 11 | g.47332600G>A | CA10582915 | MYBPC3 | c.3593C>T (p.Ala1198Val) c.3575C>T (p.Ala1192Val) c.3512C>T (p.Ala1171Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332600G>C | CA380312408 | MYBPC3 | c.3593C>G (p.Ala1198Gly) c.3575C>G (p.Ala1192Gly) c.3512C>G (p.Ala1171Gly) | |
| 11 | g.47332600G= | CA1969334175 | MYBPC3 | c.3593C= (p.Ala1198=) c.3575C= (p.Ala1192=) c.3512C= (p.Ala1171=) | |
| 11 | g.47332600G>T | CA380312403 | MYBPC3 | c.3593C>A (p.Ala1198Asp) c.3575C>A (p.Ala1192Asp) c.3512C>A (p.Ala1171Asp) | |
| 11 | g.47332602_47332613del | CA677013759 | MYBPC3 | c.3582_3593del (p.Gly1195_Ala1198del) c.3564_3575del (p.Gly1189_Ala1192del) c.3501_3512del (p.Gly1168_Ala1171del) | dbSNP gnomAD v4 |
| 11 | g.47332601C>A | CA380312420 | MYBPC3 | c.3592G>T (p.Ala1198Ser) c.3574G>T (p.Ala1192Ser) c.3511G>T (p.Ala1171Ser) | |
| 11 | g.47332601C>G | CA380312414 | MYBPC3 | c.3592G>C (p.Ala1198Pro) c.3574G>C (p.Ala1192Pro) c.3511G>C (p.Ala1171Pro) | |
| 11 | g.47332601C>T | CA380312417 | MYBPC3 | c.3592G>A (p.Ala1198Thr) c.3574G>A (p.Ala1192Thr) c.3511G>A (p.Ala1171Thr) | gnomAD v4 |
| 11 | g.47332601dup | CA16616723 | MYBPC3 | c.3592dup (p.Ala1198GlyfsTer10) c.3574dup (p.Ala1192GlyfsTer10) c.3511dup (p.Ala1171GlyfsTer10) | |
| 11 | g.47332602A>C | CA474428935 | MYBPC3 | c.3591T>G (p.Thr1197=) c.3573T>G (p.Thr1191=) c.3510T>G (p.Thr1170=) | |
| 11 | g.47332602A>G | CA474428936 | MYBPC3 | c.3591T>C (p.Thr1197=) c.3573T>C (p.Thr1191=) c.3510T>C (p.Thr1170=) | |
| 11 | g.47332602A>T | CA474428937 | MYBPC3 | c.3591T>A (p.Thr1197=) c.3573T>A (p.Thr1191=) c.3510T>A (p.Thr1170=) | |
| 11 | g.47332603G>A | CA380312425 | MYBPC3 | c.3590C>T (p.Thr1197Ile) c.3572C>T (p.Thr1191Ile) c.3509C>T (p.Thr1170Ile) | gnomAD v4 |
| 11 | g.47332603G>C | CA380312427 | MYBPC3 | c.3590C>G (p.Thr1197Ser) c.3572C>G (p.Thr1191Ser) c.3509C>G (p.Thr1170Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47332603G= | CA1969334182 | MYBPC3 | c.3590C= (p.Thr1197=) c.3572C= (p.Thr1191=) c.3509C= (p.Thr1170=) | |
| 11 | g.47332603G>T | CA380312429 | MYBPC3 | c.3590C>A (p.Thr1197Asn) c.3572C>A (p.Thr1191Asn) c.3509C>A (p.Thr1170Asn) | dbSNP |
| 11 | g.47332604T>A | CA380312432 | MYBPC3 | c.3589A>T (p.Thr1197Ser) c.3571A>T (p.Thr1191Ser) c.3508A>T (p.Thr1170Ser) | |
| 11 | g.47332604T>C | CA380312434 | MYBPC3 | c.3589A>G (p.Thr1197Ala) c.3571A>G (p.Thr1191Ala) c.3508A>G (p.Thr1170Ala) | |
| 11 | g.47332604T>G | CA380312437 | MYBPC3 | c.3589A>C (p.Thr1197Pro) c.3571A>C (p.Thr1191Pro) c.3508A>C (p.Thr1170Pro) | |
| 11 | g.47332605G>A | CA474428938 | MYBPC3 | c.3588C>T (p.Tyr1196=) c.3570C>T (p.Tyr1190=) c.3507C>T (p.Tyr1169=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47332605G>C | CA380312439 | MYBPC3 | c.3588C>G (p.Tyr1196Ter) c.3570C>G (p.Tyr1190Ter) c.3507C>G (p.Tyr1169Ter) | |
| 11 | g.47332605G= | CA1969334188 | MYBPC3 | c.3588C= (p.Tyr1196=) c.3570C= (p.Tyr1190=) c.3507C= (p.Tyr1169=) | |
| 11 | g.47332605G>T | CA380312440 | MYBPC3 | c.3588C>A (p.Tyr1196Ter) c.3570C>A (p.Tyr1190Ter) c.3507C>A (p.Tyr1169Ter) | ClinVar dbSNP |
| 11 | g.47332606T>A | CA380312441 | MYBPC3 | c.3587A>T (p.Tyr1196Phe) c.3569A>T (p.Tyr1190Phe) c.3506A>T (p.Tyr1169Phe) | |
| 11 | g.47332606T>C | CA380312443 | MYBPC3 | c.3587A>G (p.Tyr1196Cys) c.3569A>G (p.Tyr1190Cys) c.3506A>G (p.Tyr1169Cys) | |
| 11 | g.47332606T>G | CA380312446 | MYBPC3 | c.3587A>C (p.Tyr1196Ser) c.3569A>C (p.Tyr1190Ser) c.3506A>C (p.Tyr1169Ser) | |
| 11 | g.47332607A>C | CA380312449 | MYBPC3 | c.3586T>G (p.Tyr1196Asp) c.3568T>G (p.Tyr1190Asp) c.3505T>G (p.Tyr1169Asp) | dbSNP |
| 11 | g.47332607A>G | CA380312453 | MYBPC3 | c.3586T>C (p.Tyr1196His) c.3568T>C (p.Tyr1190His) c.3505T>C (p.Tyr1169His) | |
| 11 | g.47332607A>T | CA380312451 | MYBPC3 | c.3586T>A (p.Tyr1196Asn) c.3568T>A (p.Tyr1190Asn) c.3505T>A (p.Tyr1169Asn) | |
| 11 | g.47332608G>A | CA474428939 | MYBPC3 | c.3585C>T (p.Gly1195=) c.3567C>T (p.Gly1189=) c.3504C>T (p.Gly1168=) | dbSNP |
| 11 | g.47332608G>C | CA474428940 | MYBPC3 | c.3585C>G (p.Gly1195=) c.3567C>G (p.Gly1189=) c.3504C>G (p.Gly1168=) | |
| 11 | g.47332608G= | CA1969334195 | MYBPC3 | c.3585C= (p.Gly1195=) c.3567C= (p.Gly1189=) c.3504C= (p.Gly1168=) | |
| 11 | g.47332608G>T | CA014386 | MYBPC3 | c.3585C>A (p.Gly1195=) c.3567C>A (p.Gly1189=) c.3504C>A (p.Gly1168=) | ClinVar dbSNP |
| 11 | g.47332609C>A | CA014378 | MYBPC3 | c.3584G>T (p.Gly1195Val) c.3566G>T (p.Gly1189Val) c.3503G>T (p.Gly1168Val) | ClinVar dbSNP |
| 11 | g.47332609C= | CA1969334203 | MYBPC3 | c.3584G= (p.Gly1195=) c.3566G= (p.Gly1189=) c.3503G= (p.Gly1168=) | |
| 11 | g.47332609C>G | CA380312459 | MYBPC3 | c.3584G>C (p.Gly1195Ala) c.3566G>C (p.Gly1189Ala) c.3503G>C (p.Gly1168Ala) | dbSNP gnomAD v4 |
| 11 | g.47332609C>T | CA380312461 | MYBPC3 | c.3584G>A (p.Gly1195Asp) c.3566G>A (p.Gly1189Asp) c.3503G>A (p.Gly1168Asp) | ClinVar dbSNP |
| 11 | g.47332610C>A | CA380312464 | MYBPC3 | c.3583G>T (p.Gly1195Cys) c.3565G>T (p.Gly1189Cys) c.3502G>T (p.Gly1168Cys) | |
| 11 | g.47332610C>G | CA380312466 | MYBPC3 | c.3583G>C (p.Gly1195Arg) c.3565G>C (p.Gly1189Arg) c.3502G>C (p.Gly1168Arg) | ClinVar |
| 11 | g.47332610C>T | CA380312468 | MYBPC3 | c.3583G>A (p.Gly1195Ser) c.3565G>A (p.Gly1189Ser) c.3502G>A (p.Gly1168Ser) | gnomAD v4 |
| 11 | g.47332611C>A | CA474428941 | MYBPC3 | c.3582G>T (p.Ala1194=) c.3564G>T (p.Ala1188=) c.3501G>T (p.Ala1167=) | |
| 11 | g.47332611C= | CA1969334208 | MYBPC3 | c.3582G= (p.Ala1194=) c.3564G= (p.Ala1188=) c.3501G= (p.Ala1167=) | |
| 11 | g.47332611C>G | CA474428942 | MYBPC3 | c.3582G>C (p.Ala1194=) c.3564G>C (p.Ala1188=) c.3501G>C (p.Ala1167=) | |
| 11 | g.47332611C>T | CA079444 | MYBPC3 | c.3582G>A (p.Ala1194=) c.3564G>A (p.Ala1188=) c.3501G>A (p.Ala1167=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332612G>A | CA014370 | MYBPC3 | c.3581C>T (p.Ala1194Val) c.3563C>T (p.Ala1188Val) c.3500C>T (p.Ala1167Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332612G>C | CA380312474 | MYBPC3 | c.3581C>G (p.Ala1194Gly) c.3563C>G (p.Ala1188Gly) c.3500C>G (p.Ala1167Gly) | |
| 11 | g.47332612G= | CA1969334219 | MYBPC3 | c.3581C= (p.Ala1194=) c.3563C= (p.Ala1188=) c.3500C= (p.Ala1167=) | |
| 11 | g.47332612G>T | CA380312476 | MYBPC3 | c.3581C>A (p.Ala1194Glu) c.3563C>A (p.Ala1188Glu) c.3500C>A (p.Ala1167Glu) | ClinVar dbSNP COSMIC |
| 11 | g.47332613C>A | CA380312480 | MYBPC3 | c.3580G>T (p.Ala1194Ser) c.3562G>T (p.Ala1188Ser) c.3499G>T (p.Ala1167Ser) | |
| 11 | g.47332613C= | CA1969334232 | MYBPC3 | c.3580G= (p.Ala1194=) c.3562G= (p.Ala1188=) c.3499G= (p.Ala1167=) | |
| 11 | g.47332613C>G | CA380312481 | MYBPC3 | c.3580G>C (p.Ala1194Pro) c.3562G>C (p.Ala1188Pro) c.3499G>C (p.Ala1167Pro) | |
| 11 | g.47332613C>T | CA014361 | MYBPC3 | c.3580G>A (p.Ala1194Thr) c.3562G>A (p.Ala1188Thr) c.3499G>A (p.Ala1167Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332613dup | CA915940852 | MYBPC3 | c.3580dup (p.Ala1194GlyfsTer14) c.3562dup (p.Ala1188GlyfsTer14) c.3499dup (p.Ala1167GlyfsTer14) | |
| 11 | g.47332614del | CA054510 | MYBPC3 | c.3579del (p.Ile1193MetfsTer?) c.3561del (p.Ile1187MetfsTer?) c.3498del (p.Ile1166MetfsTer?) | |
| 11 | g.47332614G>A | CA079441 | MYBPC3 | c.3579C>T (p.Ile1193=) c.3561C>T (p.Ile1187=) c.3498C>T (p.Ile1166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332614G>C | CA221682060 | MYBPC3 | c.3579C>G (p.Ile1193Met) c.3561C>G (p.Ile1187Met) c.3498C>G (p.Ile1166Met) | dbSNP |
| 11 | g.47332614G= | CA1969334239 | MYBPC3 | c.3579C= (p.Ile1193=) c.3561C= (p.Ile1187=) c.3498C= (p.Ile1166=) | |
| 11 | g.47332614G>T | CA474428943 | MYBPC3 | c.3579C>A (p.Ile1193=) c.3561C>A (p.Ile1187=) c.3498C>A (p.Ile1166=) | |
| 11 | g.47332615A= | CA1969334242 | MYBPC3 | c.3578T= (p.Ile1193=) c.3560T= (p.Ile1187=) c.3497T= (p.Ile1166=) | |
| 11 | g.47332615A>C | CA380312486 | MYBPC3 | c.3578T>G (p.Ile1193Ser) c.3560T>G (p.Ile1187Ser) c.3497T>G (p.Ile1166Ser) | |
| 11 | g.47332615A>G | CA221682063 | MYBPC3 | c.3578T>C (p.Ile1193Thr) c.3560T>C (p.Ile1187Thr) c.3497T>C (p.Ile1166Thr) | dbSNP |
| 11 | g.47332615A>T | CA380312490 | MYBPC3 | c.3578T>A (p.Ile1193Asn) c.3560T>A (p.Ile1187Asn) c.3497T>A (p.Ile1166Asn) | |
| 11 | g.47332616T>A | CA380312492 | MYBPC3 | c.3577A>T (p.Ile1193Phe) c.3559A>T (p.Ile1187Phe) c.3496A>T (p.Ile1166Phe) | |
| 11 | g.47332616T>C | CA380312494 | MYBPC3 | c.3577A>G (p.Ile1193Val) c.3559A>G (p.Ile1187Val) c.3496A>G (p.Ile1166Val) | |
| 11 | g.47332616T>G | CA380312495 | MYBPC3 | c.3577A>C (p.Ile1193Leu) c.3559A>C (p.Ile1187Leu) c.3496A>C (p.Ile1166Leu) | |
| 11 | g.47332617G>A | CA054294 | MYBPC3 | c.3576C>T (p.Val1192=) c.3558C>T (p.Val1186=) c.3495C>T (p.Val1165=) | |
| 11 | g.47332617G>C | CA474428945 | MYBPC3 | c.3576C>G (p.Val1192=) c.3558C>G (p.Val1186=) c.3495C>G (p.Val1165=) | |
| 11 | g.47332617G>T | CA474428944 | MYBPC3 | c.3576C>A (p.Val1192=) c.3558C>A (p.Val1186=) c.3495C>A (p.Val1165=) | |
| 11 | g.47332618A>C | CA380312497 | MYBPC3 | c.3575T>G (p.Val1192Gly) c.3557T>G (p.Val1186Gly) c.3494T>G (p.Val1165Gly) | |
| 11 | g.47332618A>G | CA380312498 | MYBPC3 | c.3575T>C (p.Val1192Ala) c.3557T>C (p.Val1186Ala) c.3494T>C (p.Val1165Ala) | |
| 11 | g.47332618A>T | CA380312499 | MYBPC3 | c.3575T>A (p.Val1192Asp) c.3557T>A (p.Val1186Asp) c.3494T>A (p.Val1165Asp) | |
| 11 | g.47332618_47332619insTC | CA054552 | MYBPC3 | c.3574_3575insGA (p.Val1192GlyfsTer?) c.3556_3557insGA (p.Val1186GlyfsTer?) c.3493_3494insGA (p.Val1165GlyfsTer?) | |
| 11 | g.47332619C>A | CA380312502 | MYBPC3 | c.3574G>T (p.Val1192Phe) c.3556G>T (p.Val1186Phe) c.3493G>T (p.Val1165Phe) | |
| 11 | g.47332619C= | CA1969334245 | MYBPC3 | c.3574G= (p.Val1192=) c.3556G= (p.Val1186=) c.3493G= (p.Val1165=) | |
| 11 | g.47332619C>G | CA380312504 | MYBPC3 | c.3574G>C (p.Val1192Leu) c.3556G>C (p.Val1186Leu) c.3493G>C (p.Val1165Leu) | gnomAD v4 |
| 11 | g.47332619C>T | CA380312506 | MYBPC3 | c.3574G>A (p.Val1192Ile) c.3556G>A (p.Val1186Ile) c.3493G>A (p.Val1165Ile) | dbSNP gnomAD v4 |
| 11 | g.47332619_47332623delinsCCGAG | CA1969334246 | MYBPC3 | c.3570_3574delinsCTCGG (p.Arg1190=) c.3552_3556delinsCTCGG (p.Arg1184=) c.3489_3493delinsCTCGG (p.Arg1163=) | |
| 11 | g.47332620C>A | CA474428947 | MYBPC3 | c.3573G>T (p.Ser1191=) c.3555G>T (p.Ser1185=) c.3492G>T (p.Ser1164=) | |
| 11 | g.47332620C= | CA1969334254 | MYBPC3 | c.3573G= (p.Ser1191=) c.3555G= (p.Ser1185=) c.3492G= (p.Ser1164=) | |
| 11 | g.47332620C>G | CA474428946 | MYBPC3 | c.3573G>C (p.Ser1191=) c.3555G>C (p.Ser1185=) c.3492G>C (p.Ser1164=) | dbSNP gnomAD v4 |
| 11 | g.47332620C>T | CA079439 | MYBPC3 | c.3573G>A (p.Ser1191=) c.3555G>A (p.Ser1185=) c.3492G>A (p.Ser1164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.47332622_47332625del | CA915948128 | MYBPC3 | c.3570_3573del (p.Val1192SerfsTer?) c.3552_3555del (p.Val1186SerfsTer?) c.3489_3492del (p.Val1165SerfsTer?) | ClinVar dbSNP |
| 11 | g.47332621G>A | CA079437 | MYBPC3 | c.3572C>T (p.Ser1191Leu) c.3554C>T (p.Ser1185Leu) c.3491C>T (p.Ser1164Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332621G>C | CA380312513 | MYBPC3 | c.3572C>G (p.Ser1191Trp) c.3554C>G (p.Ser1185Trp) c.3491C>G (p.Ser1164Trp) | |
| 11 | g.47332621G= | CA1969334264 | MYBPC3 | c.3572C= (p.Ser1191=) c.3554C= (p.Ser1185=) c.3491C= (p.Ser1164=) | |
| 11 | g.47332621G>T | CA380312515 | MYBPC3 | c.3572C>A (p.Ser1191Ter) c.3554C>A (p.Ser1185Ter) c.3491C>A (p.Ser1164Ter) | ClinVar dbSNP |
| 11 | g.47332622A>C | CA380312516 | MYBPC3 | c.3571T>G (p.Ser1191Ala) c.3553T>G (p.Ser1185Ala) c.3490T>G (p.Ser1164Ala) | |
| 11 | g.47332622A>G | CA380312517 | MYBPC3 | c.3571T>C (p.Ser1191Pro) c.3553T>C (p.Ser1185Pro) c.3490T>C (p.Ser1164Pro) | |
| 11 | g.47332622A>T | CA380312519 | MYBPC3 | c.3571T>A (p.Ser1191Thr) c.3553T>A (p.Ser1185Thr) c.3490T>A (p.Ser1164Thr) | |
| 11 | g.47332623G>A | CA474428948 | MYBPC3 | c.3570C>T (p.Arg1190=) c.3552C>T (p.Arg1184=) c.3489C>T (p.Arg1163=) | |
| 11 | g.47332623G>C | CA474428950 | MYBPC3 | c.3570C>G (p.Arg1190=) c.3552C>G (p.Arg1184=) c.3489C>G (p.Arg1163=) | |
| 11 | g.47332623G>T | CA474428949 | MYBPC3 | c.3570C>A (p.Arg1190=) c.3552C>A (p.Arg1184=) c.3489C>A (p.Arg1163=) | |
| 11 | g.47332624C>A | CA054274 | MYBPC3 | c.3569G>T (p.Arg1190Leu) c.3551G>T (p.Arg1184Leu) c.3488G>T (p.Arg1163Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47332624C= | CA1969334274 | MYBPC3 | c.3569G= (p.Arg1190=) c.3551G= (p.Arg1184=) c.3488G= (p.Arg1163=) | |
| 11 | g.47332624C>G | CA380312523 | MYBPC3 | c.3569G>C (p.Arg1190Pro) c.3551G>C (p.Arg1184Pro) c.3488G>C (p.Arg1163Pro) | |
| 11 | g.47332624C>T | CA014352 | MYBPC3 | c.3569G>A (p.Arg1190His) c.3551G>A (p.Arg1184His) c.3488G>A (p.Arg1163His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332625G>A | CA079432 | MYBPC3 | c.3568C>T (p.Arg1190Cys) c.3550C>T (p.Arg1184Cys) c.3487C>T (p.Arg1163Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47332625G>C | CA380312527 | MYBPC3 | c.3568C>G (p.Arg1190Gly) c.3550C>G (p.Arg1184Gly) c.3487C>G (p.Arg1163Gly) | |
| 11 | g.47332625G= | CA1969334277 | MYBPC3 | c.3568C= (p.Arg1190=) c.3550C= (p.Arg1184=) c.3487C= (p.Arg1163=) | |
| 11 | g.47332625G>T | CA380312529 | MYBPC3 | c.3568C>A (p.Arg1190Ser) c.3550C>A (p.Arg1184Ser) c.3487C>A (p.Arg1163Ser) | |
| 11 | g.47332626G>A | CA474428951 | MYBPC3 | c.3567C>T (p.Asn1189=) c.3549C>T (p.Asn1183=) c.3486C>T (p.Asn1162=) | ClinVar |
| 11 | g.47332626G>C | CA380312533 | MYBPC3 | c.3567C>G (p.Asn1189Lys) c.3549C>G (p.Asn1183Lys) c.3486C>G (p.Asn1162Lys) | |
| 11 | g.47332626G>T | CA380312535 | MYBPC3 | c.3567C>A (p.Asn1189Lys) c.3549C>A (p.Asn1183Lys) c.3486C>A (p.Asn1162Lys) | |
| 11 | g.47332626_47332628dup | CA2574815724 | MYBPC3 | c.3565_3567dup (p.Asn1189_Arg1190insAsn) c.3547_3549dup (p.Asn1183_Arg1184insAsn) c.3484_3486dup (p.Asn1162_Arg1163insAsn) | gnomAD v4 |
| 11 | g.47332627T>A | CA380312542 | MYBPC3 | c.3566A>T (p.Asn1189Ile) c.3548A>T (p.Asn1183Ile) c.3485A>T (p.Asn1162Ile) | |
| 11 | g.47332627T>C | CA380312540 | MYBPC3 | c.3566A>G (p.Asn1189Ser) c.3548A>G (p.Asn1183Ser) c.3485A>G (p.Asn1162Ser) | |
| 11 | g.47332627T>G | CA380312537 | MYBPC3 | c.3566A>C (p.Asn1189Thr) c.3548A>C (p.Asn1183Thr) c.3485A>C (p.Asn1162Thr) | |
| 11 | g.47332628T>A | CA380312545 | MYBPC3 | c.3565A>T (p.Asn1189Tyr) c.3547A>T (p.Asn1183Tyr) c.3484A>T (p.Asn1162Tyr) | |
| 11 | g.47332628T>C | CA380312550 | MYBPC3 | c.3565A>G (p.Asn1189Asp) c.3547A>G (p.Asn1183Asp) c.3484A>G (p.Asn1162Asp) | |
| 11 | g.47332628T>G | CA380312547 | MYBPC3 | c.3565A>C (p.Asn1189His) c.3547A>C (p.Asn1183His) c.3484A>C (p.Asn1162His) | |
| 11 | g.47332629C>A | CA474428952 | MYBPC3 | c.3564G>T (p.Val1188=) c.3546G>T (p.Val1182=) c.3483G>T (p.Val1161=) | ClinVar dbSNP |
| 11 | g.47332629C= | CA1969334281 | MYBPC3 | c.3564G= (p.Val1188=) c.3546G= (p.Val1182=) c.3483G= (p.Val1161=) | |
| 11 | g.47332629C>G | CA474428953 | MYBPC3 | c.3564G>C (p.Val1188=) c.3546G>C (p.Val1182=) c.3483G>C (p.Val1161=) | |
| 11 | g.47332629C>T | CA474428954 | MYBPC3 | c.3564G>A (p.Val1188=) c.3546G>A (p.Val1182=) c.3483G>A (p.Val1161=) | dbSNP gnomAD v4 |
| 11 | g.47332630A= | CA1969334282 | MYBPC3 | c.3563T= (p.Val1188=) c.3545T= (p.Val1182=) c.3482T= (p.Val1161=) | |
| 11 | g.47332630A>C | CA380312553 | MYBPC3 | c.3563T>G (p.Val1188Gly) c.3545T>G (p.Val1182Gly) c.3482T>G (p.Val1161Gly) | |
| 11 | g.47332630A>G | CA380312556 | MYBPC3 | c.3563T>C (p.Val1188Ala) c.3545T>C (p.Val1182Ala) c.3482T>C (p.Val1161Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47332630A>T | CA380312555 | MYBPC3 | c.3563T>A (p.Val1188Glu) c.3545T>A (p.Val1182Glu) c.3482T>A (p.Val1161Glu) | |
| 11 | g.47332631C>A | CA380312559 | MYBPC3 | c.3562G>T (p.Val1188Leu) c.3544G>T (p.Val1182Leu) c.3481G>T (p.Val1161Leu) | |
| 11 | g.47332631C= | CA1969334284 | MYBPC3 | c.3562G= (p.Val1188=) c.3544G= (p.Val1182=) c.3481G= (p.Val1161=) | |
| 11 | g.47332631C>G | CA380312561 | MYBPC3 | c.3562G>C (p.Val1188Leu) c.3544G>C (p.Val1182Leu) c.3481G>C (p.Val1161Leu) | |
| 11 | g.47332631C>T | CA380312563 | MYBPC3 | c.3562G>A (p.Val1188Met) c.3544G>A (p.Val1182Met) c.3481G>A (p.Val1161Met) | dbSNP gnomAD v4 |
| 11 | g.47332632C>A | CA474428955 | MYBPC3 | c.3561G>T (p.Leu1187=) c.3543G>T (p.Leu1181=) c.3480G>T (p.Leu1160=) | |
| 11 | g.47332632C>G | CA474428956 | MYBPC3 | c.3561G>C (p.Leu1187=) c.3543G>C (p.Leu1181=) c.3480G>C (p.Leu1160=) | |
| 11 | g.47332632C>T | CA474428957 | MYBPC3 | c.3561G>A (p.Leu1187=) c.3543G>A (p.Leu1181=) c.3480G>A (p.Leu1160=) | gnomAD v4 |
| 11 | g.47332632_47332633delinsCA | CA1969334285 | MYBPC3 | c.3560_3561delinsTG (p.Leu1187=) c.3542_3543delinsTG (p.Leu1181=) c.3479_3480delinsTG (p.Leu1160=) | |
| 11 | g.47332633del | CA1139659386 | MYBPC3 | c.3560del (p.Leu1187ArgfsTer2) c.3542del (p.Leu1181ArgfsTer2) c.3479del (p.Leu1160ArgfsTer2) | ClinVar dbSNP |
| 11 | g.47332633A>C | CA380312565 | MYBPC3 | c.3560T>G (p.Leu1187Arg) c.3542T>G (p.Leu1181Arg) c.3479T>G (p.Leu1160Arg) | |
| 11 | g.47332633A>G | CA380312567 | MYBPC3 | c.3560T>C (p.Leu1187Pro) c.3542T>C (p.Leu1181Pro) c.3479T>C (p.Leu1160Pro) | ClinVar gnomAD v4 |
| 11 | g.47332633A>T | CA380312569 | MYBPC3 | c.3560T>A (p.Leu1187Gln) c.3542T>A (p.Leu1181Gln) c.3479T>A (p.Leu1160Gln) | |
| 11 | g.47332633_47332634delinsAG | CA1969334292 | MYBPC3 | c.3559_3560delinsCT (p.Leu1187=) c.3541_3542delinsCT (p.Leu1181=) c.3478_3479delinsCT (p.Leu1160=) | |
| 11 | g.47332634G>A | CA474428958 | MYBPC3 | c.3559C>T (p.Leu1187=) c.3541C>T (p.Leu1181=) c.3478C>T (p.Leu1160=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47332634G>C | CA380312571 | MYBPC3 | c.3559C>G (p.Leu1187Val) c.3541C>G (p.Leu1181Val) c.3478C>G (p.Leu1160Val) | |
| 11 | g.47332634G= | CA1969334300 | MYBPC3 | c.3559C= (p.Leu1187=) c.3541C= (p.Leu1181=) c.3478C= (p.Leu1160=) | |
| 11 | g.47332634G>T | CA380312573 | MYBPC3 | c.3559C>A (p.Leu1187Met) c.3541C>A (p.Leu1181Met) c.3478C>A (p.Leu1160Met) | |
| 11 | g.47332637del | CA645372894 | MYBPC3 | c.3559del (p.Leu1187TrpfsTer2) c.3541del (p.Leu1181TrpfsTer2) c.3478del (p.Leu1160TrpfsTer2) | ClinVar dbSNP |
| 11 | g.47332635G>A | CA474428959 | MYBPC3 | c.3558C>T (p.Pro1186=) c.3540C>T (p.Pro1180=) c.3477C>T (p.Pro1159=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47332635G>C | CA079431 | MYBPC3 | c.3558C>G (p.Pro1186=) c.3540C>G (p.Pro1180=) c.3477C>G (p.Pro1159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332635G= | CA1969334306 | MYBPC3 | c.3558C= (p.Pro1186=) c.3540C= (p.Pro1180=) c.3477C= (p.Pro1159=) | |
| 11 | g.47332635G>T | CA474428960 | MYBPC3 | c.3558C>A (p.Pro1186=) c.3540C>A (p.Pro1180=) c.3477C>A (p.Pro1159=) | |
| 11 | g.47332636G>A | CA380312582 | MYBPC3 | c.3557C>T (p.Pro1186Leu) c.3539C>T (p.Pro1180Leu) c.3476C>T (p.Pro1159Leu) | |
| 11 | g.47332636G>C | CA380312580 | MYBPC3 | c.3557C>G (p.Pro1186Arg) c.3539C>G (p.Pro1180Arg) c.3476C>G (p.Pro1159Arg) | |
| 11 | g.47332636G>T | CA380312577 | MYBPC3 | c.3557C>A (p.Pro1186His) c.3539C>A (p.Pro1180His) c.3476C>A (p.Pro1159His) | |
| 11 | g.47332637G>A | CA380312585 | MYBPC3 | c.3556C>T (p.Pro1186Ser) c.3538C>T (p.Pro1180Ser) c.3475C>T (p.Pro1159Ser) | gnomAD v4 |
| 11 | g.47332637G>C | CA380312586 | MYBPC3 | c.3556C>G (p.Pro1186Ala) c.3538C>G (p.Pro1180Ala) c.3475C>G (p.Pro1159Ala) | gnomAD v4 |
| 11 | g.47332637G>T | CA380312587 | MYBPC3 | c.3556C>A (p.Pro1186Thr) c.3538C>A (p.Pro1180Thr) c.3475C>A (p.Pro1159Thr) | |
| 11 | g.47332638C>A | CA380312588 | MYBPC3 | c.3555G>T (p.Gln1185His) c.3537G>T (p.Gln1179His) c.3474G>T (p.Gln1158His) | ClinVar dbSNP |
| 11 | g.47332638C= | CA1969334309 | MYBPC3 | c.3555G= (p.Gln1185=) c.3537G= (p.Gln1179=) c.3474G= (p.Gln1158=) | |
| 11 | g.47332638C>G | CA380312589 | MYBPC3 | c.3555G>C (p.Gln1185His) c.3537G>C (p.Gln1179His) c.3474G>C (p.Gln1158His) | |
| 11 | g.47332638C>T | CA474428961 | MYBPC3 | c.3555G>A (p.Gln1185=) c.3537G>A (p.Gln1179=) c.3474G>A (p.Gln1158=) | gnomAD v4 |
| 11 | g.47332639T>A | CA380312590 | MYBPC3 | c.3554A>T (p.Gln1185Leu) c.3536A>T (p.Gln1179Leu) c.3473A>T (p.Gln1158Leu) | |
| 11 | g.47332639T>C | CA380312591 | MYBPC3 | c.3554A>G (p.Gln1185Arg) c.3536A>G (p.Gln1179Arg) c.3473A>G (p.Gln1158Arg) | |
| 11 | g.47332639T>G | CA380312592 | MYBPC3 | c.3554A>C (p.Gln1185Pro) c.3536A>C (p.Gln1179Pro) c.3473A>C (p.Gln1158Pro) | |
| 11 | g.47332640G>A | CA014331 | MYBPC3 | c.3553C>T (p.Gln1185Ter) c.3535C>T (p.Gln1179Ter) c.3472C>T (p.Gln1158Ter) | ClinVar dbSNP |
| 11 | g.47332640G>C | CA380312593 | MYBPC3 | c.3553C>G (p.Gln1185Glu) c.3535C>G (p.Gln1179Glu) c.3472C>G (p.Gln1158Glu) | |
| 11 | g.47332640G= | CA1969334312 | MYBPC3 | c.3553C= (p.Gln1185=) c.3535C= (p.Gln1179=) c.3472C= (p.Gln1158=) | |
| 11 | g.47332640G>T | CA380312594 | MYBPC3 | c.3553C>A (p.Gln1185Lys) c.3535C>A (p.Gln1179Lys) c.3472C>A (p.Gln1158Lys) | |
| 11 | g.47332641G>A | CA474428962 | MYBPC3 | c.3552C>T (p.Thr1184=) c.3534C>T (p.Thr1178=) c.3471C>T (p.Thr1157=) | |
| 11 | g.47332641G>C | CA474428963 | MYBPC3 | c.3552C>G (p.Thr1184=) c.3534C>G (p.Thr1178=) c.3471C>G (p.Thr1157=) | |
| 11 | g.47332641G>T | CA474428964 | MYBPC3 | c.3552C>A (p.Thr1184=) c.3534C>A (p.Thr1178=) c.3471C>A (p.Thr1157=) | gnomAD v4 |
| 11 | g.47332642G>A | CA380312596 | MYBPC3 | c.3551C>T (p.Thr1184Ile) c.3533C>T (p.Thr1178Ile) c.3470C>T (p.Thr1157Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47332642G>C | CA380312597 | MYBPC3 | c.3551C>G (p.Thr1184Ser) c.3533C>G (p.Thr1178Ser) c.3470C>G (p.Thr1157Ser) | |
| 11 | g.47332642G= | CA1969334316 | MYBPC3 | c.3551C= (p.Thr1184=) c.3533C= (p.Thr1178=) c.3470C= (p.Thr1157=) | |
| 11 | g.47332642G>T | CA380312595 | MYBPC3 | c.3551C>A (p.Thr1184Asn) c.3533C>A (p.Thr1178Asn) c.3470C>A (p.Thr1157Asn) | gnomAD v4 |
| 11 | g.47332643T>A | CA380312598 | MYBPC3 | c.3550A>T (p.Thr1184Ser) c.3532A>T (p.Thr1178Ser) c.3469A>T (p.Thr1157Ser) | |
| 11 | g.47332643T>C | CA380312599 | MYBPC3 | c.3550A>G (p.Thr1184Ala) c.3532A>G (p.Thr1178Ala) c.3469A>G (p.Thr1157Ala) | ClinVar dbSNP |
| 11 | g.47332643T>G | CA380312601 | MYBPC3 | c.3550A>C (p.Thr1184Pro) c.3532A>C (p.Thr1178Pro) c.3469A>C (p.Thr1157Pro) | |
| 11 | g.47332643T= | CA1969334322 | MYBPC3 | c.3550A= (p.Thr1184=) c.3532A= (p.Thr1178=) c.3469A= (p.Thr1157=) | |
| 11 | g.47332644G>A | CA474428965 | MYBPC3 | c.3549C>T (p.Phe1183=) c.3531C>T (p.Phe1177=) c.3468C>T (p.Phe1156=) | gnomAD v4 |
| 11 | g.47332644G>C | CA380312603 | MYBPC3 | c.3549C>G (p.Phe1183Leu) c.3531C>G (p.Phe1177Leu) c.3468C>G (p.Phe1156Leu) | |
| 11 | g.47332644G>T | CA380312605 | MYBPC3 | c.3549C>A (p.Phe1183Leu) c.3531C>A (p.Phe1177Leu) c.3468C>A (p.Phe1156Leu) | |
| 11 | g.47332644dup | CA913188356 | MYBPC3 | c.3549dup (p.Thr1184HisfsTer24) c.3531dup (p.Thr1178HisfsTer24) c.3468dup (p.Thr1157HisfsTer24) | ClinVar dbSNP |
| 11 | g.47332645A= | CA1969334330 | MYBPC3 | c.3548T= (p.Phe1183=) c.3530T= (p.Phe1177=) c.3467T= (p.Phe1156=) | |
| 11 | g.47332645A>C | CA014323 | MYBPC3 | c.3548T>G (p.Phe1183Cys) c.3530T>G (p.Phe1177Cys) c.3467T>G (p.Phe1156Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47332645A>G | CA380312608 | MYBPC3 | c.3548T>C (p.Phe1183Ser) c.3530T>C (p.Phe1177Ser) c.3467T>C (p.Phe1156Ser) | |
| 11 | g.47332645A>T | CA380312611 | MYBPC3 | c.3548T>A (p.Phe1183Tyr) c.3530T>A (p.Phe1177Tyr) c.3467T>A (p.Phe1156Tyr) | |
| 11 | g.47332646A= | CA1969334333 | MYBPC3 | c.3547T= (p.Phe1183=) c.3529T= (p.Phe1177=) c.3466T= (p.Phe1156=) | |
| 11 | g.47332646A>C | CA380312616 | MYBPC3 | c.3547T>G (p.Phe1183Val) c.3529T>G (p.Phe1177Val) c.3466T>G (p.Phe1156Val) | |
| 11 | g.47332646A>G | CA014313 | MYBPC3 | c.3547T>C (p.Phe1183Leu) c.3529T>C (p.Phe1177Leu) c.3466T>C (p.Phe1156Leu) | ClinVar dbSNP |
| 11 | g.47332646A>T | CA380312619 | MYBPC3 | c.3547T>A (p.Phe1183Ile) c.3529T>A (p.Phe1177Ile) c.3466T>A (p.Phe1156Ile) | |
| 11 | g.47332647G>A | CA474428966 | MYBPC3 | c.3546C>T (p.Ser1182=) c.3528C>T (p.Ser1176=) c.3465C>T (p.Ser1155=) | |
| 11 | g.47332647G>C | CA380312621 | MYBPC3 | c.3546C>G (p.Ser1182Arg) c.3528C>G (p.Ser1176Arg) c.3465C>G (p.Ser1155Arg) | |
| 11 | g.47332647G>T | CA380312624 | MYBPC3 | c.3546C>A (p.Ser1182Arg) c.3528C>A (p.Ser1176Arg) c.3465C>A (p.Ser1155Arg) | |
| 11 | g.47332648C>A | CA380312627 | MYBPC3 | c.3545G>T (p.Ser1182Ile) c.3527G>T (p.Ser1176Ile) c.3464G>T (p.Ser1155Ile) | |
| 11 | g.47332648C= | CA1969334338 | MYBPC3 | c.3545G= (p.Ser1182=) c.3527G= (p.Ser1176=) c.3464G= (p.Ser1155=) | |
| 11 | g.47332648C>G | CA380312630 | MYBPC3 | c.3545G>C (p.Ser1182Thr) c.3527G>C (p.Ser1176Thr) c.3464G>C (p.Ser1155Thr) | ClinVar dbSNP gnomAD v2 |
| 11 | g.47332648C>T | CA380312629 | MYBPC3 | c.3545G>A (p.Ser1182Asn) c.3527G>A (p.Ser1176Asn) c.3464G>A (p.Ser1155Asn) | |
| 11 | g.47332649T>A | CA380312632 | MYBPC3 | c.3544A>T (p.Ser1182Cys) c.3526A>T (p.Ser1176Cys) c.3463A>T (p.Ser1155Cys) | |
| 11 | g.47332649T>C | CA380312634 | MYBPC3 | c.3544A>G (p.Ser1182Gly) c.3526A>G (p.Ser1176Gly) c.3463A>G (p.Ser1155Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47332649T>G | CA380312637 | MYBPC3 | c.3544A>C (p.Ser1182Arg) c.3526A>C (p.Ser1176Arg) c.3463A>C (p.Ser1155Arg) | ClinVar dbSNP |
| 11 | g.47332649T= | CA1969334343 | MYBPC3 | c.3544A= (p.Ser1182=) c.3526A= (p.Ser1176=) c.3463A= (p.Ser1155=) | |
| 11 | g.47332650T>A | CA474428967 | MYBPC3 | c.3543A>T (p.Pro1181=) c.3525A>T (p.Pro1175=) c.3462A>T (p.Pro1154=) | |
| 11 | g.47332650T>C | CA474428969 | MYBPC3 | c.3543A>G (p.Pro1181=) c.3525A>G (p.Pro1175=) c.3462A>G (p.Pro1154=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332650T>G | CA474428968 | MYBPC3 | c.3543A>C (p.Pro1181=) c.3525A>C (p.Pro1175=) c.3462A>C (p.Pro1154=) | |
| 11 | g.47332650T= | CA1969334348 | MYBPC3 | c.3543A= (p.Pro1181=) c.3525A= (p.Pro1175=) c.3462A= (p.Pro1154=) | |
| 11 | g.47332651G>A | CA380312640 | MYBPC3 | c.3542C>T (p.Pro1181Leu) c.3524C>T (p.Pro1175Leu) c.3461C>T (p.Pro1154Leu) | |
| 11 | g.47332651G>C | CA380312641 | MYBPC3 | c.3542C>G (p.Pro1181Arg) c.3524C>G (p.Pro1175Arg) c.3461C>G (p.Pro1154Arg) | |
| 11 | g.47332651G>T | CA380312644 | MYBPC3 | c.3542C>A (p.Pro1181Gln) c.3524C>A (p.Pro1175Gln) c.3461C>A (p.Pro1154Gln) | |
| 11 | g.47332652G>A | CA380312647 | MYBPC3 | c.3541C>T (p.Pro1181Ser) c.3523C>T (p.Pro1175Ser) c.3460C>T (p.Pro1154Ser) | |
| 11 | g.47332652G>C | CA014307 | MYBPC3 | c.3541C>G (p.Pro1181Ala) c.3523C>G (p.Pro1175Ala) c.3460C>G (p.Pro1154Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332652G= | CA1969334353 | MYBPC3 | c.3541C= (p.Pro1181=) c.3523C= (p.Pro1175=) c.3460C= (p.Pro1154=) | |
| 11 | g.47332652G>T | CA380312649 | MYBPC3 | c.3541C>A (p.Pro1181Thr) c.3523C>A (p.Pro1175Thr) c.3460C>A (p.Pro1154Thr) | |
| 11 | g.47332653G>A | CA474428970 | MYBPC3 | c.3540C>T (p.Ala1180=) c.3522C>T (p.Ala1174=) c.3459C>T (p.Ala1153=) | |
| 11 | g.47332653G>C | CA474428971 | MYBPC3 | c.3540C>G (p.Ala1180=) c.3522C>G (p.Ala1174=) c.3459C>G (p.Ala1153=) | gnomAD v4 |
| 11 | g.47332653G>T | CA474428972 | MYBPC3 | c.3540C>A (p.Ala1180=) c.3522C>A (p.Ala1174=) c.3459C>A (p.Ala1153=) | |
| 11 | g.47332654G>A | CA380312652 | MYBPC3 | c.3539C>T (p.Ala1180Val) c.3521C>T (p.Ala1174Val) c.3458C>T (p.Ala1153Val) | dbSNP |
| 11 | g.47332654G>C | CA380312654 | MYBPC3 | c.3539C>G (p.Ala1180Gly) c.3521C>G (p.Ala1174Gly) c.3458C>G (p.Ala1153Gly) | |
| 11 | g.47332654G= | CA1969334359 | MYBPC3 | c.3539C= (p.Ala1180=) c.3521C= (p.Ala1174=) c.3458C= (p.Ala1153=) | |
| 11 | g.47332654G>T | CA380312656 | MYBPC3 | c.3539C>A (p.Ala1180Asp) c.3521C>A (p.Ala1174Asp) c.3458C>A (p.Ala1153Asp) | |
| 11 | g.47332655C>A | CA380312662 | MYBPC3 | c.3538G>T (p.Ala1180Ser) c.3520G>T (p.Ala1174Ser) c.3457G>T (p.Ala1153Ser) | |
| 11 | g.47332655C>G | CA380312667 | MYBPC3 | c.3538G>C (p.Ala1180Pro) c.3520G>C (p.Ala1174Pro) c.3457G>C (p.Ala1153Pro) | |
| 11 | g.47332655C>T | CA380312660 | MYBPC3 | c.3538G>A (p.Ala1180Thr) c.3520G>A (p.Ala1174Thr) c.3457G>A (p.Ala1153Thr) | ClinVar dbSNP |
| 11 | g.47332656C>A | CA380312673 | MYBPC3 | c.3537G>T (p.Glu1179Asp) c.3519G>T (p.Glu1173Asp) c.3456G>T (p.Glu1152Asp) | |
| 11 | g.47332656C= | CA1969334363 | MYBPC3 | c.3537G= (p.Glu1179=) c.3519G= (p.Glu1173=) c.3456G= (p.Glu1152=) | |
| 11 | g.47332656C>G | CA380312671 | MYBPC3 | c.3537G>C (p.Glu1179Asp) c.3519G>C (p.Glu1173Asp) c.3456G>C (p.Glu1152Asp) | |
| 11 | g.47332656C>T | CA474428973 | MYBPC3 | c.3537G>A (p.Glu1179=) c.3519G>A (p.Glu1173=) c.3456G>A (p.Glu1152=) | dbSNP gnomAD v4 |
| 11 | g.47332657T>A | CA380312676 | MYBPC3 | c.3536A>T (p.Glu1179Val) c.3518A>T (p.Glu1173Val) c.3455A>T (p.Glu1152Val) | |
| 11 | g.47332657T>C | CA380312679 | MYBPC3 | c.3536A>G (p.Glu1179Gly) c.3518A>G (p.Glu1173Gly) c.3455A>G (p.Glu1152Gly) | |
| 11 | g.47332657T>G | CA380312681 | MYBPC3 | c.3536A>C (p.Glu1179Ala) c.3518A>C (p.Glu1173Ala) c.3455A>C (p.Glu1152Ala) | |
| 11 | g.47332658C>A | CA380312684 | MYBPC3 | c.3535G>T (p.Glu1179Ter) c.3517G>T (p.Glu1173Ter) c.3454G>T (p.Glu1152Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47332658C= | CA1969334368 | MYBPC3 | c.3535G= (p.Glu1179=) c.3517G= (p.Glu1173=) c.3454G= (p.Glu1152=) | |
| 11 | g.47332658C>G | CA380312686 | MYBPC3 | c.3535G>C (p.Glu1179Gln) c.3517G>C (p.Glu1173Gln) c.3454G>C (p.Glu1152Gln) | |
| 11 | g.47332658C>T | CA014298 | MYBPC3 | c.3535G>A (p.Glu1179Lys) c.3517G>A (p.Glu1173Lys) c.3454G>A (p.Glu1152Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332659G>A | CA079428 | MYBPC3 | c.3534C>T (p.Ser1178=) c.3516C>T (p.Ser1172=) c.3453C>T (p.Ser1151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332659G>C | CA474428974 | MYBPC3 | c.3534C>G (p.Ser1178=) c.3516C>G (p.Ser1172=) c.3453C>G (p.Ser1151=) | |
| 11 | g.47332659G= | CA1969334372 | MYBPC3 | c.3534C= (p.Ser1178=) c.3516C= (p.Ser1172=) c.3453C= (p.Ser1151=) | |
| 11 | g.47332659G>T | CA474428975 | MYBPC3 | c.3534C>A (p.Ser1178=) c.3516C>A (p.Ser1172=) c.3453C>A (p.Ser1151=) | |
| 11 | g.47332660G>A | CA380312692 | MYBPC3 | c.3533C>T (p.Ser1178Phe) c.3515C>T (p.Ser1172Phe) c.3452C>T (p.Ser1151Phe) | |
| 11 | g.47332660G>C | CA380312694 | MYBPC3 | c.3533C>G (p.Ser1178Cys) c.3515C>G (p.Ser1172Cys) c.3452C>G (p.Ser1151Cys) | |
| 11 | g.47332660G>T | CA380312696 | MYBPC3 | c.3533C>A (p.Ser1178Tyr) c.3515C>A (p.Ser1172Tyr) c.3452C>A (p.Ser1151Tyr) | |
| 11 | g.47332661A>C | CA380312704 | MYBPC3 | c.3532T>G (p.Ser1178Ala) c.3514T>G (p.Ser1172Ala) c.3451T>G (p.Ser1151Ala) | |
| 11 | g.47332661A>G | CA380312702 | MYBPC3 | c.3532T>C (p.Ser1178Pro) c.3514T>C (p.Ser1172Pro) c.3451T>C (p.Ser1151Pro) | gnomAD v4 |
| 11 | g.47332661A>T | CA380312700 | MYBPC3 | c.3532T>A (p.Ser1178Thr) c.3514T>A (p.Ser1172Thr) c.3451T>A (p.Ser1151Thr) | |
| 11 | g.47332662G>A | CA054207 | MYBPC3 | c.3531C>T (p.Phe1177=) c.3513C>T (p.Phe1171=) c.3450C>T (p.Phe1150=) | |
| 11 | g.47332662G>C | CA380312706 | MYBPC3 | c.3531C>G (p.Phe1177Leu) c.3513C>G (p.Phe1171Leu) c.3450C>G (p.Phe1150Leu) | ClinVar dbSNP |
| 11 | g.47332662G= | CA1969334377 | MYBPC3 | c.3531C= (p.Phe1177=) c.3513C= (p.Phe1171=) c.3450C= (p.Phe1150=) | |
| 11 | g.47332662G>T | CA380312708 | MYBPC3 | c.3531C>A (p.Phe1177Leu) c.3513C>A (p.Phe1171Leu) c.3450C>A (p.Phe1150Leu) | |
| 11 | g.47332663A>C | CA380312711 | MYBPC3 | c.3530T>G (p.Phe1177Cys) c.3512T>G (p.Phe1171Cys) c.3449T>G (p.Phe1150Cys) | |
| 11 | g.47332663A>G | CA380312714 | MYBPC3 | c.3530T>C (p.Phe1177Ser) c.3512T>C (p.Phe1171Ser) c.3449T>C (p.Phe1150Ser) | |
| 11 | g.47332663A>T | CA380312715 | MYBPC3 | c.3530T>A (p.Phe1177Tyr) c.3512T>A (p.Phe1171Tyr) c.3449T>A (p.Phe1150Tyr) | |
| 11 | g.47332664A>C | CA380312719 | MYBPC3 | c.3529T>G (p.Phe1177Val) c.3511T>G (p.Phe1171Val) c.3448T>G (p.Phe1150Val) | |
| 11 | g.47332664A>G | CA380312720 | MYBPC3 | c.3529T>C (p.Phe1177Leu) c.3511T>C (p.Phe1171Leu) c.3448T>C (p.Phe1150Leu) | |
| 11 | g.47332664A>T | CA380312722 | MYBPC3 | c.3529T>A (p.Phe1177Ile) c.3511T>A (p.Phe1171Ile) c.3448T>A (p.Phe1150Ile) | |
| 11 | g.47332665G>A | CA474428976 | MYBPC3 | c.3528C>T (p.Asp1176=) c.3510C>T (p.Asp1170=) c.3447C>T (p.Asp1149=) | gnomAD v4 |
| 11 | g.47332665G>C | CA380312725 | MYBPC3 | c.3528C>G (p.Asp1176Glu) c.3510C>G (p.Asp1170Glu) c.3447C>G (p.Asp1149Glu) | dbSNP |
| 11 | g.47332665G= | CA1969334381 | MYBPC3 | c.3528C= (p.Asp1176=) c.3510C= (p.Asp1170=) c.3447C= (p.Asp1149=) | |
| 11 | g.47332665G>T | CA380312727 | MYBPC3 | c.3528C>A (p.Asp1176Glu) c.3510C>A (p.Asp1170Glu) c.3447C>A (p.Asp1149Glu) | |
| 11 | g.47332666T>A | CA380312728 | MYBPC3 | c.3527A>T (p.Asp1176Val) c.3509A>T (p.Asp1170Val) c.3446A>T (p.Asp1149Val) | gnomAD v4 |
| 11 | g.47332666T>C | CA380312731 | MYBPC3 | c.3527A>G (p.Asp1176Gly) c.3509A>G (p.Asp1170Gly) c.3446A>G (p.Asp1149Gly) | dbSNP |
| 11 | g.47332666T>G | CA380312732 | MYBPC3 | c.3527A>C (p.Asp1176Ala) c.3509A>C (p.Asp1170Ala) c.3446A>C (p.Asp1149Ala) | |
| 11 | g.47332666T= | CA1969334383 | MYBPC3 | c.3527A= (p.Asp1176=) c.3509A= (p.Asp1170=) c.3446A= (p.Asp1149=) | |
| 11 | g.47332667C>A | CA380312738 | MYBPC3 | c.3526G>T (p.Asp1176Tyr) c.3508G>T (p.Asp1170Tyr) c.3445G>T (p.Asp1149Tyr) | |
| 11 | g.47332667C>G | CA380312740 | MYBPC3 | c.3526G>C (p.Asp1176His) c.3508G>C (p.Asp1170His) c.3445G>C (p.Asp1149His) | |
| 11 | g.47332667C>T | CA380312735 | MYBPC3 | c.3526G>A (p.Asp1176Asn) c.3508G>A (p.Asp1170Asn) c.3445G>A (p.Asp1149Asn) | gnomAD v4 |
| 11 | g.47332668C>A | CA474428977 | MYBPC3 | c.3525G>T (p.Leu1175=) c.3507G>T (p.Leu1169=) c.3444G>T (p.Leu1148=) | |
| 11 | g.47332668C>G | CA474428978 | MYBPC3 | c.3525G>C (p.Leu1175=) c.3507G>C (p.Leu1169=) c.3444G>C (p.Leu1148=) | |
| 11 | g.47332668C>T | CA474428979 | MYBPC3 | c.3525G>A (p.Leu1175=) c.3507G>A (p.Leu1169=) c.3444G>A (p.Leu1148=) | |
| 11 | g.47332669A>C | CA380312743 | MYBPC3 | c.3524T>G (p.Leu1175Arg) c.3506T>G (p.Leu1169Arg) c.3443T>G (p.Leu1148Arg) | |
| 11 | g.47332669A>G | CA380312745 | MYBPC3 | c.3524T>C (p.Leu1175Pro) c.3506T>C (p.Leu1169Pro) c.3443T>C (p.Leu1148Pro) | gnomAD v4 |
| 11 | g.47332669A>T | CA380312748 | MYBPC3 | c.3524T>A (p.Leu1175Gln) c.3506T>A (p.Leu1169Gln) c.3443T>A (p.Leu1148Gln) | |
| 11 | g.47332670G>A | CA474428980 | MYBPC3 | c.3523C>T (p.Leu1175=) c.3505C>T (p.Leu1169=) c.3442C>T (p.Leu1148=) | gnomAD v4 |
| 11 | g.47332670G>C | CA079425 | MYBPC3 | c.3523C>G (p.Leu1175Val) c.3505C>G (p.Leu1169Val) c.3442C>G (p.Leu1148Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47332670G= | CA1969334385 | MYBPC3 | c.3523C= (p.Leu1175=) c.3505C= (p.Leu1169=) c.3442C= (p.Leu1148=) | |
| 11 | g.47332670G>T | CA380312752 | MYBPC3 | c.3523C>A (p.Leu1175Met) c.3505C>A (p.Leu1169Met) c.3442C>A (p.Leu1148Met) | |
| 11 | g.47332672dup | CA2697548542 | MYBPC3 | c.3523dup (p.Leu1175ProfsTer?) c.3505dup (p.Leu1169ProfsTer?) c.3442dup (p.Leu1148ProfsTer?) | ClinVar |
| 11 | g.47332671G>A | CA474428981 | MYBPC3 | c.3522C>T (p.Ala1174=) c.3504C>T (p.Ala1168=) c.3441C>T (p.Ala1147=) | ClinVar gnomAD v4 |
| 11 | g.47332671G>C | CA474428983 | MYBPC3 | c.3522C>G (p.Ala1174=) c.3504C>G (p.Ala1168=) c.3441C>G (p.Ala1147=) | |
| 11 | g.47332671G>T | CA474428982 | MYBPC3 | c.3522C>A (p.Ala1174=) c.3504C>A (p.Ala1168=) c.3441C>A (p.Ala1147=) | |
| 11 | g.47332672G>A | CA380312755 | MYBPC3 | c.3521C>T (p.Ala1174Val) c.3503C>T (p.Ala1168Val) c.3440C>T (p.Ala1147Val) | gnomAD v4 |
| 11 | g.47332672G>C | CA380312757 | MYBPC3 | c.3521C>G (p.Ala1174Gly) c.3503C>G (p.Ala1168Gly) c.3440C>G (p.Ala1147Gly) | |
| 11 | g.47332672G>T | CA380312759 | MYBPC3 | c.3521C>A (p.Ala1174Asp) c.3503C>A (p.Ala1168Asp) c.3440C>A (p.Ala1147Asp) | gnomAD v4 |
| 11 | g.47332672_47332675delinsGCCT | CA1969334387 | MYBPC3 | c.3518_3521delinsAGGC (p.Lys1173=) c.3500_3503delinsAGGC (p.Lys1167=) c.3437_3440delinsAGGC (p.Lys1146=) | |
| 11 | g.47332673C>A | CA380312762 | MYBPC3 | c.3520G>T (p.Ala1174Ser) c.3502G>T (p.Ala1168Ser) c.3439G>T (p.Ala1147Ser) | |
| 11 | g.47332673C>G | CA380312765 | MYBPC3 | c.3520G>C (p.Ala1174Pro) c.3502G>C (p.Ala1168Pro) c.3439G>C (p.Ala1147Pro) | |
| 11 | g.47332673C>T | CA380312767 | MYBPC3 | c.3520G>A (p.Ala1174Thr) c.3502G>A (p.Ala1168Thr) c.3439G>A (p.Ala1147Thr) | |
| 11 | g.47332673_47332675del | CA079423 | MYBPC3 | c.3518_3520del (p.Lys1173_Ala1174delinsThr) c.3500_3502del (p.Lys1167_Ala1168delinsThr) c.3437_3439del (p.Lys1146_Ala1147delinsThr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47332673_47332676delinsTGGCTC | CA2695213907 | MYBPC3 | c.3517_3520delinsGAGCCA (p.Lys1173GlufsTer17) c.3499_3502delinsGAGCCA (p.Lys1167GlufsTer17) c.3436_3439delinsGAGCCA (p.Lys1146GlufsTer17) | |
| 11 | g.47332674C>A | CA380312771 | MYBPC3 | c.3519G>T (p.Lys1173Asn) c.3501G>T (p.Lys1167Asn) c.3438G>T (p.Lys1146Asn) | ClinVar dbSNP |
| 11 | g.47332674C= | CA1969334393 | MYBPC3 | c.3519G= (p.Lys1173=) c.3501G= (p.Lys1167=) c.3438G= (p.Lys1146=) | |
| 11 | g.47332674C>G | CA380312773 | MYBPC3 | c.3519G>C (p.Lys1173Asn) c.3501G>C (p.Lys1167Asn) c.3438G>C (p.Lys1146Asn) | |
| 11 | g.47332674C>T | CA474428984 | MYBPC3 | c.3519G>A (p.Lys1173=) c.3501G>A (p.Lys1167=) c.3438G>A (p.Lys1146=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.47332677_47333963del | CA2573051316 | MYBPC3 | c.2956_3519del c.2938_3501del c.2875_3438del | ClinVar |
| 11 | g.47332675T>A | CA380312780 | MYBPC3 | c.3518A>T (p.Lys1173Met) c.3500A>T (p.Lys1167Met) c.3437A>T (p.Lys1146Met) | |
| 11 | g.47332675T>C | CA380312778 | MYBPC3 | c.3518A>G (p.Lys1173Arg) c.3500A>G (p.Lys1167Arg) c.3437A>G (p.Lys1146Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332675T>G | CA380312777 | MYBPC3 | c.3518A>C (p.Lys1173Thr) c.3500A>C (p.Lys1167Thr) c.3437A>C (p.Lys1146Thr) | |
| 11 | g.47332675T= | CA1969334402 | MYBPC3 | c.3518A= (p.Lys1173=) c.3500A= (p.Lys1167=) c.3437A= (p.Lys1146=) | |
| 11 | g.47332676_47332678del | CA054165 | MYBPC3 | c.3516_3518del (p.Tyr1172Ter) c.3498_3500del (p.Tyr1166Ter) c.3435_3437del (p.Tyr1145Ter) | |
| 11 | g.47332675_47335092del | CA2573051317 | MYBPC3 | c.2855_3518del c.2837_3500del c.2774_3437del | ClinVar |
| 11 | g.47332676T>A | CA380312783 | MYBPC3 | c.3517A>T (p.Lys1173Ter) c.3499A>T (p.Lys1167Ter) c.3436A>T (p.Lys1146Ter) | |
| 11 | g.47332676T>C | CA221682086 | MYBPC3 | c.3517A>G (p.Lys1173Glu) c.3499A>G (p.Lys1167Glu) c.3436A>G (p.Lys1146Glu) | dbSNP |
| 11 | g.47332676T>G | CA380312786 | MYBPC3 | c.3517A>C (p.Lys1173Gln) c.3499A>C (p.Lys1167Gln) c.3436A>C (p.Lys1146Gln) | |
| 11 | g.47332676T= | CA1969334410 | MYBPC3 | c.3517A= (p.Lys1173=) c.3499A= (p.Lys1167=) c.3436A= (p.Lys1146=) | |
| 11 | g.47332676_47332679dup | CA16619332 | MYBPC3 | c.3514_3517dup (p.Lys1173IlefsTer2) c.3496_3499dup (p.Lys1167IlefsTer2) c.3433_3436dup (p.Lys1146IlefsTer2) | ClinVar dbSNP |
| 11 | g.47332677del | CA2695213908 | MYBPC3 | c.3516del (p.Tyr1172Ter) c.3498del (p.Tyr1166Ter) c.3435del (p.Tyr1145Ter) | |
| 11 | g.47332677A= | CA1969334413 | MYBPC3 | c.3516T= (p.Tyr1172=) c.3498T= (p.Tyr1166=) c.3435T= (p.Tyr1145=) | |
| 11 | g.47332677A>C | CA380312788 | MYBPC3 | c.3516T>G (p.Tyr1172Ter) c.3498T>G (p.Tyr1166Ter) c.3435T>G (p.Tyr1145Ter) | |
| 11 | g.47332677A>G | CA474428985 | MYBPC3 | c.3516T>C (p.Tyr1172=) c.3498T>C (p.Tyr1166=) c.3435T>C (p.Tyr1145=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47332677A>T | CA380312790 | MYBPC3 | c.3516T>A (p.Tyr1172Ter) c.3498T>A (p.Tyr1166Ter) c.3435T>A (p.Tyr1145Ter) | |
| 11 | g.47332678T>A | CA380312794 | MYBPC3 | c.3515A>T (p.Tyr1172Phe) c.3497A>T (p.Tyr1166Phe) c.3434A>T (p.Tyr1145Phe) | |
| 11 | g.47332678T>C | CA380312796 | MYBPC3 | c.3515A>G (p.Tyr1172Cys) c.3497A>G (p.Tyr1166Cys) c.3434A>G (p.Tyr1145Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332678T>G | CA380312798 | MYBPC3 | c.3515A>C (p.Tyr1172Ser) c.3497A>C (p.Tyr1166Ser) c.3434A>C (p.Tyr1145Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47332678T= | CA1969334417 | MYBPC3 | c.3515A= (p.Tyr1172=) c.3497A= (p.Tyr1166=) c.3434A= (p.Tyr1145=) | |
| 11 | g.47332679A= | CA1969334421 | MYBPC3 | c.3514T= (p.Tyr1172=) c.3496T= (p.Tyr1166=) c.3433T= (p.Tyr1145=) | |
| 11 | g.47332679A>C | CA380312801 | MYBPC3 | c.3514T>G (p.Tyr1172Asp) c.3496T>G (p.Tyr1166Asp) c.3433T>G (p.Tyr1145Asp) | |
| 11 | g.47332679A>G | CA380312803 | MYBPC3 | c.3514T>C (p.Tyr1172His) c.3496T>C (p.Tyr1166His) c.3433T>C (p.Tyr1145His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332679A>T | CA380312805 | MYBPC3 | c.3514T>A (p.Tyr1172Asn) c.3496T>A (p.Tyr1166Asn) c.3433T>A (p.Tyr1145Asn) | gnomAD v4 |
| 11 | g.47332680G>A | CA474428986 | MYBPC3 | c.3513C>T (p.Asn1171=) c.3495C>T (p.Asn1165=) c.3432C>T (p.Asn1144=) | |
| 11 | g.47332680G>C | CA380312808 | MYBPC3 | c.3513C>G (p.Asn1171Lys) c.3495C>G (p.Asn1165Lys) c.3432C>G (p.Asn1144Lys) | |
| 11 | g.47332680G= | CA1969334424 | MYBPC3 | c.3513C= (p.Asn1171=) c.3495C= (p.Asn1165=) c.3432C= (p.Asn1144=) | |
| 11 | g.47332680G>T | CA380312810 | MYBPC3 | c.3513C>A (p.Asn1171Lys) c.3495C>A (p.Asn1165Lys) c.3432C>A (p.Asn1144Lys) | dbSNP |
| 11 | g.47332680_47332681delinsGT | CA1969334426 | MYBPC3 | c.3512_3513delinsAC (p.Asn1171=) c.3494_3495delinsAC (p.Asn1165=) c.3431_3432delinsAC (p.Asn1144=) | |
| 11 | g.47332681T>A | CA380312817 | MYBPC3 | c.3512A>T (p.Asn1171Ile) c.3494A>T (p.Asn1165Ile) c.3431A>T (p.Asn1144Ile) | |
| 11 | g.47332681T>C | CA079421 | MYBPC3 | c.3512A>G (p.Asn1171Ser) c.3494A>G (p.Asn1165Ser) c.3431A>G (p.Asn1144Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47332681T>G | CA380312819 | MYBPC3 | c.3512A>C (p.Asn1171Thr) c.3494A>C (p.Asn1165Thr) c.3431A>C (p.Asn1144Thr) | |
| 11 | g.47332681T= | CA1969334432 | MYBPC3 | c.3512A= (p.Asn1171=) c.3494A= (p.Asn1165=) c.3431A= (p.Asn1144=) | |
| 11 | g.47332682del | CA10576881 | MYBPC3 | c.3512del (p.Asn1171ThrfsTer18) c.3494del (p.Asn1165ThrfsTer18) c.3431del (p.Asn1144ThrfsTer18) | ClinVar dbSNP |
| 11 | g.47332682T>A | CA380312825 | MYBPC3 | c.3511A>T (p.Asn1171Tyr) c.3493A>T (p.Asn1165Tyr) c.3430A>T (p.Asn1144Tyr) | |
| 11 | g.47332682T>C | CA380312822 | MYBPC3 | c.3511A>G (p.Asn1171Asp) c.3493A>G (p.Asn1165Asp) c.3430A>G (p.Asn1144Asp) | |
| 11 | g.47332682T>G | CA380312827 | MYBPC3 | c.3511A>C (p.Asn1171His) c.3493A>C (p.Asn1165His) c.3430A>C (p.Asn1144His) | |
| 11 | g.47332683G>A | CA221682095 | MYBPC3 | c.3510C>T (p.Pro1170=) c.3492C>T (p.Pro1164=) c.3429C>T (p.Pro1143=) | dbSNP |
| 11 | g.47332683G>C | CA474428987 | MYBPC3 | c.3510C>G (p.Pro1170=) c.3492C>G (p.Pro1164=) c.3429C>G (p.Pro1143=) | |
| 11 | g.47332683G= | CA1969334438 | MYBPC3 | c.3510C= (p.Pro1170=) c.3492C= (p.Pro1164=) c.3429C= (p.Pro1143=) | |
| 11 | g.47332683G>T | CA474428988 | MYBPC3 | c.3510C>A (p.Pro1170=) c.3492C>A (p.Pro1164=) c.3429C>A (p.Pro1143=) | |
| 11 | g.47332685dup | CA2695213909 | MYBPC3 | c.3510dup (p.Asn1171GlnfsTer3) c.3492dup (p.Asn1165GlnfsTer3) c.3429dup (p.Asn1144GlnfsTer3) | |
| 11 | g.47332684G>A | CA380312838 | MYBPC3 | c.3509C>T (p.Pro1170Leu) c.3491C>T (p.Pro1164Leu) c.3428C>T (p.Pro1143Leu) | |
| 11 | g.47332684G>C | CA380312832 | MYBPC3 | c.3509C>G (p.Pro1170Arg) c.3491C>G (p.Pro1164Arg) c.3428C>G (p.Pro1143Arg) | |
| 11 | g.47332684G>T | CA380312840 | MYBPC3 | c.3509C>A (p.Pro1170His) c.3491C>A (p.Pro1164His) c.3428C>A (p.Pro1143His) | |
| 11 | g.47332685G>A | CA380312843 | MYBPC3 | c.3508C>T (p.Pro1170Ser) c.3490C>T (p.Pro1164Ser) c.3427C>T (p.Pro1143Ser) | |
| 11 | g.47332685G>C | CA380312848 | MYBPC3 | c.3508C>G (p.Pro1170Ala) c.3490C>G (p.Pro1164Ala) c.3427C>G (p.Pro1143Ala) | |
| 11 | g.47332685G>T | CA380312845 | MYBPC3 | c.3508C>A (p.Pro1170Thr) c.3490C>A (p.Pro1164Thr) c.3427C>A (p.Pro1143Thr) | |
| 11 | g.47332686T>A | CA474428989 | MYBPC3 | c.3507A>T (p.Pro1169=) c.3489A>T (p.Pro1163=) c.3426A>T (p.Pro1142=) | |
| 11 | g.47332686T>C | CA474428990 | MYBPC3 | c.3507A>G (p.Pro1169=) c.3489A>G (p.Pro1163=) c.3426A>G (p.Pro1142=) | |
| 11 | g.47332686T>G | CA474428991 | MYBPC3 | c.3507A>C (p.Pro1169=) c.3489A>C (p.Pro1163=) c.3426A>C (p.Pro1142=) | |
| 11 | g.47332687G>A | CA380312851 | MYBPC3 | c.3506C>T (p.Pro1169Leu) c.3488C>T (p.Pro1163Leu) c.3425C>T (p.Pro1142Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332687G>C | CA380312855 | MYBPC3 | c.3506C>G (p.Pro1169Arg) c.3488C>G (p.Pro1163Arg) c.3425C>G (p.Pro1142Arg) | |
| 11 | g.47332687G= | CA1969334441 | MYBPC3 | c.3506C= (p.Pro1169=) c.3488C= (p.Pro1163=) c.3425C= (p.Pro1142=) | |
| 11 | g.47332687G>T | CA380312853 | MYBPC3 | c.3506C>A (p.Pro1169Gln) c.3488C>A (p.Pro1163Gln) c.3425C>A (p.Pro1142Gln) | |
| 11 | g.47332688G>A | CA380312859 | MYBPC3 | c.3505C>T (p.Pro1169Ser) c.3487C>T (p.Pro1163Ser) c.3424C>T (p.Pro1142Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47332688G>C | CA380312863 | MYBPC3 | c.3505C>G (p.Pro1169Ala) c.3487C>G (p.Pro1163Ala) c.3424C>G (p.Pro1142Ala) | |
| 11 | g.47332688G= | CA1969334443 | MYBPC3 | c.3505C= (p.Pro1169=) c.3487C= (p.Pro1163=) c.3424C= (p.Pro1142=) | |
| 11 | g.47332688G>T | CA380312861 | MYBPC3 | c.3505C>A (p.Pro1169Thr) c.3487C>A (p.Pro1163Thr) c.3424C>A (p.Pro1142Thr) | |
| 11 | g.47332689C>A | CA380312865 | MYBPC3 | c.3504G>T (p.Glu1168Asp) c.3486G>T (p.Glu1162Asp) c.3423G>T (p.Glu1141Asp) | gnomAD v4 |
| 11 | g.47332689C= | CA1969334445 | MYBPC3 | c.3504G= (p.Glu1168=) c.3486G= (p.Glu1162=) c.3423G= (p.Glu1141=) | |
| 11 | g.47332689C>G | CA380312867 | MYBPC3 | c.3504G>C (p.Glu1168Asp) c.3486G>C (p.Glu1162Asp) c.3423G>C (p.Glu1141Asp) | |
| 11 | g.47332689C>T | CA474428992 | MYBPC3 | c.3504G>A (p.Glu1168=) c.3486G>A (p.Glu1162=) c.3423G>A (p.Glu1141=) | dbSNP |
| 11 | g.47332690T>A | CA380312870 | MYBPC3 | c.3503A>T (p.Glu1168Val) c.3485A>T (p.Glu1162Val) c.3422A>T (p.Glu1141Val) | |
| 11 | g.47332690T>C | CA380312873 | MYBPC3 | c.3503A>G (p.Glu1168Gly) c.3485A>G (p.Glu1162Gly) c.3422A>G (p.Glu1141Gly) | |
| 11 | g.47332690T>G | CA380312875 | MYBPC3 | c.3503A>C (p.Glu1168Ala) c.3485A>C (p.Glu1162Ala) c.3422A>C (p.Glu1141Ala) |