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.47332586C>A | CA380312290 | MYBPC3 | c.3607G>T (p.Ala1203Ser) c.3589G>T (p.Ala1197Ser) c.3526G>T (p.Ala1176Ser) | gnomAD v4 |
11 | g.47332586C>G | CA380312292 | MYBPC3 | c.3607G>C (p.Ala1203Pro) c.3589G>C (p.Ala1197Pro) c.3526G>C (p.Ala1176Pro) | |
11 | g.47332586C>T | CA380312296 | MYBPC3 | c.3607G>A (p.Ala1203Thr) c.3589G>A (p.Ala1197Thr) c.3526G>A (p.Ala1176Thr) | |
11 | g.47332587A= | CA1969334129 | MYBPC3 | c.3606T= (p.Cys1202=) c.3588T= (p.Cys1196=) c.3525T= (p.Cys1175=) | |
11 | g.47332587A>C | CA380312298 | MYBPC3 | c.3606T>G (p.Cys1202Trp) c.3588T>G (p.Cys1196Trp) c.3525T>G (p.Cys1175Trp) | |
11 | g.47332587A>G | CA221682038 | MYBPC3 | c.3606T>C (p.Cys1202=) c.3588T>C (p.Cys1196=) c.3525T>C (p.Cys1175=) | ClinVar dbSNP gnomAD v4 |
11 | g.47332587A>T | CA380312301 | MYBPC3 | c.3606T>A (p.Cys1202Ter) c.3588T>A (p.Cys1196Ter) c.3525T>A (p.Cys1175Ter) | |
11 | g.47332588del | CA2573051215 | MYBPC3 | c.3605del (p.Cys1202LeufsTer?) c.3587del (p.Cys1196LeufsTer?) c.3524del (p.Cys1175LeufsTer?) | |
11 | g.47332588C>A | CA380312309 | MYBPC3 | c.3605G>T (p.Cys1202Phe) c.3587G>T (p.Cys1196Phe) c.3524G>T (p.Cys1175Phe) | |
11 | g.47332588C= | CA1969334138 | MYBPC3 | c.3605G= (p.Cys1202=) c.3587G= (p.Cys1196=) c.3524G= (p.Cys1175=) | |
11 | g.47332588C>G | CA16613579 | MYBPC3 | c.3605G>C (p.Cys1202Ser) c.3587G>C (p.Cys1196Ser) c.3524G>C (p.Cys1175Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332588C>T | CA014449 | MYBPC3 | c.3605G>A (p.Cys1202Tyr) c.3587G>A (p.Cys1196Tyr) c.3524G>A (p.Cys1175Tyr) | ClinVar dbSNP |
11 | g.47332589A>C | CA380312311 | MYBPC3 | c.3604T>G (p.Cys1202Gly) c.3586T>G (p.Cys1196Gly) c.3523T>G (p.Cys1175Gly) | |
11 | g.47332589A>G | CA380312314 | MYBPC3 | c.3604T>C (p.Cys1202Arg) c.3586T>C (p.Cys1196Arg) c.3523T>C (p.Cys1175Arg) | |
11 | g.47332589A>T | CA380312316 | MYBPC3 | c.3604T>A (p.Cys1202Ser) c.3586T>A (p.Cys1196Ser) c.3523T>A (p.Cys1175Ser) | |
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) |