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.47332579del | CA16613343 | MYBPC3 | c.3617del (p.Gly1206ValfsTer?) c.3599del (p.Gly1200ValfsTer?) c.3536del (p.Gly1179ValfsTer?) | ClinVar dbSNP |
11 | g.47332579C>A | CA380312245 | MYBPC3 | c.3614G>T (p.Arg1205Leu) c.3596G>T (p.Arg1199Leu) c.3533G>T (p.Arg1178Leu) | |
11 | g.47332579C= | CA1969334075 | MYBPC3 | c.3614G= (p.Arg1205=) c.3596G= (p.Arg1199=) c.3533G= (p.Arg1178=) | |
11 | g.47332579C>G | CA380312247 | MYBPC3 | c.3614G>C (p.Arg1205Pro) c.3596G>C (p.Arg1199Pro) c.3533G>C (p.Arg1178Pro) | ClinVar dbSNP |
11 | g.47332579C>T | CA014478 | MYBPC3 | c.3614G>A (p.Arg1205Gln) c.3596G>A (p.Arg1199Gln) c.3533G>A (p.Arg1178Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332580G>A | CA014469 | MYBPC3 | c.3613C>T (p.Arg1205Trp) c.3595C>T (p.Arg1199Trp) c.3532C>T (p.Arg1178Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332580G>C | CA054456 | MYBPC3 | c.3613C>G (p.Arg1205Gly) c.3595C>G (p.Arg1199Gly) c.3532C>G (p.Arg1178Gly) | |
11 | g.47332580G= | CA1969334088 | MYBPC3 | c.3613C= (p.Arg1205=) c.3595C= (p.Arg1199=) c.3532C= (p.Arg1178=) | |
11 | g.47332580G>T | CA474428897 | MYBPC3 | c.3613C>A (p.Arg1205=) c.3595C>A (p.Arg1199=) c.3532C>A (p.Arg1178=) | gnomAD v4 |
11 | g.47332581G>A | CA474428898 | MYBPC3 | c.3612C>T (p.Val1204=) c.3594C>T (p.Val1198=) c.3531C>T (p.Val1177=) | |
11 | g.47332581G>C | CA474428899 | MYBPC3 | c.3612C>G (p.Val1204=) c.3594C>G (p.Val1198=) c.3531C>G (p.Val1177=) | |
11 | g.47332581G>T | CA474428900 | MYBPC3 | c.3612C>A (p.Val1204=) c.3594C>A (p.Val1198=) c.3531C>A (p.Val1177=) | gnomAD v4 |
11 | g.47332582A= | CA1969334096 | MYBPC3 | c.3611T= (p.Val1204=) c.3593T= (p.Val1198=) c.3530T= (p.Val1177=) | |
11 | g.47332582A>C | CA380312258 | MYBPC3 | c.3611T>G (p.Val1204Gly) c.3593T>G (p.Val1198Gly) c.3530T>G (p.Val1177Gly) | |
11 | g.47332582A>G | CA014459 | MYBPC3 | c.3611T>C (p.Val1204Ala) c.3593T>C (p.Val1198Ala) c.3530T>C (p.Val1177Ala) | ClinVar dbSNP |
11 | g.47332582A>T | CA380312264 | MYBPC3 | c.3611T>A (p.Val1204Asp) c.3593T>A (p.Val1198Asp) c.3530T>A (p.Val1177Asp) | |
11 | g.47332588_47332592dup | CA2580615677 | MYBPC3 | c.3607_3611dup (p.Arg1205LeufsTer?) c.3589_3593dup (p.Arg1199LeufsTer?) c.3526_3530dup (p.Arg1178LeufsTer?) | ClinVar |
11 | g.47332583C>A | CA380312268 | MYBPC3 | c.3610G>T (p.Val1204Phe) c.3592G>T (p.Val1198Phe) c.3529G>T (p.Val1177Phe) | |
11 | g.47332583C= | CA1969334108 | MYBPC3 | c.3610G= (p.Val1204=) c.3592G= (p.Val1198=) c.3529G= (p.Val1177=) | |
11 | g.47332583C>G | CA380312274 | MYBPC3 | c.3610G>C (p.Val1204Leu) c.3592G>C (p.Val1198Leu) c.3529G>C (p.Val1177Leu) | |
11 | g.47332583C>T | CA380312272 | MYBPC3 | c.3610G>A (p.Val1204Ile) c.3592G>A (p.Val1198Ile) c.3529G>A (p.Val1177Ile) | dbSNP |
11 | g.47332583_47332593delinsCAGCACAGCAG | CA1969334106 | MYBPC3 | c.3600_3610delinsCTGCTGTGCTG (p.Leu1200=) c.3582_3592delinsCTGCTGTGCTG (p.Leu1194=) c.3519_3529delinsCTGCTGTGCTG (p.Leu1173=) | |
11 | g.47332584A>C | CA474428903 | MYBPC3 | c.3609T>G (p.Ala1203=) c.3591T>G (p.Ala1197=) c.3528T>G (p.Ala1176=) | |
11 | g.47332584A>G | CA474428904 | MYBPC3 | c.3609T>C (p.Ala1203=) c.3591T>C (p.Ala1197=) c.3528T>C (p.Ala1176=) | |
11 | g.47332584A>T | CA474428902 | MYBPC3 | c.3609T>A (p.Ala1203=) c.3591T>A (p.Ala1197=) c.3528T>A (p.Ala1176=) | |
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.47332585G>A | CA380312282 | MYBPC3 | c.3608C>T (p.Ala1203Val) c.3590C>T (p.Ala1197Val) c.3527C>T (p.Ala1176Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332585G>C | CA380312285 | MYBPC3 | c.3608C>G (p.Ala1203Gly) c.3590C>G (p.Ala1197Gly) c.3527C>G (p.Ala1176Gly) | |
11 | g.47332585G= | CA1969334125 | MYBPC3 | c.3608C= (p.Ala1203=) c.3590C= (p.Ala1197=) c.3527C= (p.Ala1176=) | |
11 | g.47332585G>T | CA380312287 | MYBPC3 | c.3608C>A (p.Ala1203Asp) c.3590C>A (p.Ala1197Asp) c.3527C>A (p.Ala1176Asp) | |
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=) |