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.47332154del | CA014698 | MYBPC3 | c.3735del (p.Phe1246LeufsTer?) c.3717del (p.Phe1240LeufsTer?) c.3654del (p.Phe1219LeufsTer?) | ClinVar dbSNP |
| 11 | g.47332154G>A | CA474428854 | MYBPC3 | c.3732C>T (p.Cys1244=) c.3714C>T (p.Cys1238=) c.3651C>T (p.Cys1217=) | ClinVar dbSNP |
| 11 | g.47332154G>C | CA380311080 | MYBPC3 | c.3732C>G (p.Cys1244Trp) c.3714C>G (p.Cys1238Trp) c.3651C>G (p.Cys1217Trp) | |
| 11 | g.47332154G= | CA1969333413 | MYBPC3 | c.3732C= (p.Cys1244=) c.3714C= (p.Cys1238=) c.3651C= (p.Cys1217=) | |
| 11 | g.47332154G>T | CA014689 | MYBPC3 | c.3732C>A (p.Cys1244Ter) c.3714C>A (p.Cys1238Ter) c.3651C>A (p.Cys1217Ter) | ClinVar dbSNP |
| 11 | g.47332155C>A | CA380311088 | MYBPC3 | c.3731G>T (p.Cys1244Phe) c.3713G>T (p.Cys1238Phe) c.3650G>T (p.Cys1217Phe) | |
| 11 | g.47332155C= | CA1969333417 | MYBPC3 | c.3731G= (p.Cys1244=) c.3713G= (p.Cys1238=) c.3650G= (p.Cys1217=) | |
| 11 | g.47332155C>G | CA380311095 | MYBPC3 | c.3731G>C (p.Cys1244Ser) c.3713G>C (p.Cys1238Ser) c.3650G>C (p.Cys1217Ser) | |
| 11 | g.47332155C>T | CA380311090 | MYBPC3 | c.3731G>A (p.Cys1244Tyr) c.3713G>A (p.Cys1238Tyr) c.3650G>A (p.Cys1217Tyr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332156A>C | CA380311098 | MYBPC3 | c.3730T>G (p.Cys1244Gly) c.3712T>G (p.Cys1238Gly) c.3649T>G (p.Cys1217Gly) | |
| 11 | g.47332156A>G | CA380311104 | MYBPC3 | c.3730T>C (p.Cys1244Arg) c.3712T>C (p.Cys1238Arg) c.3649T>C (p.Cys1217Arg) | |
| 11 | g.47332156A>T | CA380311101 | MYBPC3 | c.3730T>A (p.Cys1244Ser) c.3712T>A (p.Cys1238Ser) c.3649T>A (p.Cys1217Ser) | |
| 11 | g.47332156_47332157delinsAG | CA1969333418 | MYBPC3 | c.3729_3730delinsCT (p.Pro1243=) c.3711_3712delinsCT (p.Pro1237=) c.3648_3649delinsCT (p.Pro1216=) | |
| 11 | g.47332157G>A | CA474428855 | MYBPC3 | c.3729C>T (p.Pro1243=) c.3711C>T (p.Pro1237=) c.3648C>T (p.Pro1216=) | |
| 11 | g.47332157G>C | CA474428856 | MYBPC3 | c.3729C>G (p.Pro1243=) c.3711C>G (p.Pro1237=) c.3648C>G (p.Pro1216=) | |
| 11 | g.47332157G>T | CA474428857 | MYBPC3 | c.3729C>A (p.Pro1243=) c.3711C>A (p.Pro1237=) c.3648C>A (p.Pro1216=) | gnomAD v4 |
| 11 | g.47332159dup | CA2499220957 | MYBPC3 | c.3729dup (p.Cys1244LeufsTer4) c.3711dup (p.Cys1238LeufsTer4) c.3648dup (p.Cys1217LeufsTer4) | ClinVar dbSNP |
| 11 | g.47332159del | CA599374101 | MYBPC3 | c.3729del (p.Cys1244AlafsTer?) c.3711del (p.Cys1238AlafsTer?) c.3648del (p.Cys1217AlafsTer?) | dbSNP gnomAD v2 |
| 11 | g.47332158G>A | CA380311108 | MYBPC3 | c.3728C>T (p.Pro1243Leu) c.3710C>T (p.Pro1237Leu) c.3647C>T (p.Pro1216Leu) | COSMIC COSMIC |
| 11 | g.47332158G>C | CA279610 | MYBPC3 | c.3728C>G (p.Pro1243Arg) c.3710C>G (p.Pro1237Arg) c.3647C>G (p.Pro1216Arg) | ClinVar dbSNP |
| 11 | g.47332158G= | CA1969333419 | MYBPC3 | c.3728C= (p.Pro1243=) c.3710C= (p.Pro1237=) c.3647C= (p.Pro1216=) | |
| 11 | g.47332158G>T | CA380311115 | MYBPC3 | c.3728C>A (p.Pro1243His) c.3710C>A (p.Pro1237His) c.3647C>A (p.Pro1216His) | ClinVar |
| 11 | g.47332159G>A | CA380311116 | MYBPC3 | c.3727C>T (p.Pro1243Ser) c.3709C>T (p.Pro1237Ser) c.3646C>T (p.Pro1216Ser) | |
| 11 | g.47332159G>C | CA380311119 | MYBPC3 | c.3727C>G (p.Pro1243Ala) c.3709C>G (p.Pro1237Ala) c.3646C>G (p.Pro1216Ala) | |
| 11 | g.47332159G>T | CA380311123 | MYBPC3 | c.3727C>A (p.Pro1243Thr) c.3709C>A (p.Pro1237Thr) c.3646C>A (p.Pro1216Thr) | |
| 11 | g.47332159_47332160delinsGC | CA1969333421 | MYBPC3 | c.3726_3727delinsGC (p.Lys1242=) c.3708_3709delinsGC (p.Lys1236=) c.3645_3646delinsGC (p.Lys1215=) | |
| 11 | g.47332160del | CA16619331 | MYBPC3 | c.3726del (p.Lys1242AsnfsTer?) c.3708del (p.Lys1236AsnfsTer?) c.3645del (p.Lys1215AsnfsTer?) | ClinVar dbSNP |
| 11 | g.47332160C>A | CA16606238 | MYBPC3 | c.3726G>T (p.Lys1242Asn) c.3708G>T (p.Lys1236Asn) c.3645G>T (p.Lys1215Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47332160C= | CA1969333424 | MYBPC3 | c.3726G= (p.Lys1242=) c.3708G= (p.Lys1236=) c.3645G= (p.Lys1215=) | |
| 11 | g.47332160C>G | CA380311135 | MYBPC3 | c.3726G>C (p.Lys1242Asn) c.3708G>C (p.Lys1236Asn) c.3645G>C (p.Lys1215Asn) | |
| 11 | g.47332160C>T | CA474428858 | MYBPC3 | c.3726G>A (p.Lys1242=) c.3708G>A (p.Lys1236=) c.3645G>A (p.Lys1215=) | |
| 11 | g.47332161T>A | CA380311138 | MYBPC3 | c.3725A>T (p.Lys1242Met) c.3707A>T (p.Lys1236Met) c.3644A>T (p.Lys1215Met) | |
| 11 | g.47332161T>C | CA380311139 | MYBPC3 | c.3725A>G (p.Lys1242Arg) c.3707A>G (p.Lys1236Arg) c.3644A>G (p.Lys1215Arg) | |
| 11 | g.47332161T>G | CA380311140 | MYBPC3 | c.3725A>C (p.Lys1242Thr) c.3707A>C (p.Lys1236Thr) c.3644A>C (p.Lys1215Thr) | |
| 11 | g.47332162T>A | CA380311144 | MYBPC3 | c.3724A>T (p.Lys1242Ter) c.3706A>T (p.Lys1236Ter) c.3643A>T (p.Lys1215Ter) | |
| 11 | g.47332162T>C | CA221681792 | MYBPC3 | c.3724A>G (p.Lys1242Glu) c.3706A>G (p.Lys1236Glu) c.3643A>G (p.Lys1215Glu) | ClinVar dbSNP |
| 11 | g.47332162T>G | CA380311142 | MYBPC3 | c.3724A>C (p.Lys1242Gln) c.3706A>C (p.Lys1236Gln) c.3643A>C (p.Lys1215Gln) | |
| 11 | g.47332162T= | CA1969333426 | MYBPC3 | c.3724A= (p.Lys1242=) c.3706A= (p.Lys1236=) c.3643A= (p.Lys1215=) | |
| 11 | g.47332163T>A | CA380311147 | MYBPC3 | c.3723A>T (p.Arg1241Ser) c.3705A>T (p.Arg1235Ser) c.3642A>T (p.Arg1214Ser) | |
| 11 | g.47332163T>C | CA474428859 | MYBPC3 | c.3723A>G (p.Arg1241=) c.3705A>G (p.Arg1235=) c.3642A>G (p.Arg1214=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332163T>G | CA380311150 | MYBPC3 | c.3723A>C (p.Arg1241Ser) c.3705A>C (p.Arg1235Ser) c.3642A>C (p.Arg1214Ser) | |
| 11 | g.47332163T= | CA1969333427 | MYBPC3 | c.3723A= (p.Arg1241=) c.3705A= (p.Arg1235=) c.3642A= (p.Arg1214=) | |
| 11 | g.47332164C>A | CA380311153 | MYBPC3 | c.3722G>T (p.Arg1241Ile) c.3704G>T (p.Arg1235Ile) c.3641G>T (p.Arg1214Ile) | |
| 11 | g.47332164C= | CA1969333429 | MYBPC3 | c.3722G= (p.Arg1241=) c.3704G= (p.Arg1235=) c.3641G= (p.Arg1214=) | |
| 11 | g.47332164C>G | CA380311154 | MYBPC3 | c.3722G>C (p.Arg1241Thr) c.3704G>C (p.Arg1235Thr) c.3641G>C (p.Arg1214Thr) | dbSNP |
| 11 | g.47332164C>T | CA380311157 | MYBPC3 | c.3722G>A (p.Arg1241Lys) c.3704G>A (p.Arg1235Lys) c.3641G>A (p.Arg1214Lys) | |
| 11 | g.47332165T>A | CA380311160 | MYBPC3 | c.3721A>T (p.Arg1241Ter) c.3703A>T (p.Arg1235Ter) c.3640A>T (p.Arg1214Ter) | |
| 11 | g.47332165T>C | CA380311161 | MYBPC3 | c.3721A>G (p.Arg1241Gly) c.3703A>G (p.Arg1235Gly) c.3640A>G (p.Arg1214Gly) | |
| 11 | g.47332165T>G | CA474428860 | MYBPC3 | c.3721A>C (p.Arg1241=) c.3703A>C (p.Arg1235=) c.3640A>C (p.Arg1214=) | |
| 11 | g.47332166A= | CA1969333430 | MYBPC3 | c.3720T= (p.Ile1240=) c.3702T= (p.Ile1234=) c.3639T= (p.Ile1213=) | |
| 11 | g.47332166A>C | CA380311162 | MYBPC3 | c.3720T>G (p.Ile1240Met) c.3702T>G (p.Ile1234Met) c.3639T>G (p.Ile1213Met) | |
| 11 | g.47332166A>G | CA079517 | MYBPC3 | c.3720T>C (p.Ile1240=) c.3702T>C (p.Ile1234=) c.3639T>C (p.Ile1213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47332166A>T | CA474428861 | MYBPC3 | c.3720T>A (p.Ile1240=) c.3702T>A (p.Ile1234=) c.3639T>A (p.Ile1213=) | dbSNP gnomAD v4 |
| 11 | g.47332167dup | CA2580615674 | MYBPC3 | c.3720dup (p.Arg1241Ter) c.3702dup (p.Arg1235Ter) c.3639dup (p.Arg1214Ter) | ClinVar |
| 11 | g.47332167A= | CA1969333432 | MYBPC3 | c.3719T= (p.Ile1240=) c.3701T= (p.Ile1234=) c.3638T= (p.Ile1213=) | |
| 11 | g.47332167A>C | CA380311166 | MYBPC3 | c.3719T>G (p.Ile1240Ser) c.3701T>G (p.Ile1234Ser) c.3638T>G (p.Ile1213Ser) | |
| 11 | g.47332167A>G | CA380311167 | MYBPC3 | c.3719T>C (p.Ile1240Thr) c.3701T>C (p.Ile1234Thr) c.3638T>C (p.Ile1213Thr) | |
| 11 | g.47332167A>T | CA380311169 | MYBPC3 | c.3719T>A (p.Ile1240Asn) c.3701T>A (p.Ile1234Asn) c.3638T>A (p.Ile1213Asn) | ClinVar dbSNP |
| 11 | g.47332168T>A | CA380311176 | MYBPC3 | c.3718A>T (p.Ile1240Phe) c.3700A>T (p.Ile1234Phe) c.3637A>T (p.Ile1213Phe) | |
| 11 | g.47332168T>C | CA380311173 | MYBPC3 | c.3718A>G (p.Ile1240Val) c.3700A>G (p.Ile1234Val) c.3637A>G (p.Ile1213Val) | ClinVar |
| 11 | g.47332168T>G | CA380311172 | MYBPC3 | c.3718A>C (p.Ile1240Leu) c.3700A>C (p.Ile1234Leu) c.3637A>C (p.Ile1213Leu) | |
| 11 | g.47332168_47332182delinsTCTCCAGAGTCAACA | CA1969333434 | MYBPC3 | c.3704_3718delinsTGTTGACTCTGGAGA (p.Val1235=) c.3686_3700delinsTGTTGACTCTGGAGA (p.Val1229=) c.3623_3637delinsTGTTGACTCTGGAGA (p.Val1208=) | |
| 11 | g.47332169C>A | CA380311177 | MYBPC3 | c.3717G>T (p.Glu1239Asp) c.3699G>T (p.Glu1233Asp) c.3636G>T (p.Glu1212Asp) | gnomAD v4 |
| 11 | g.47332169C>G | CA380311178 | MYBPC3 | c.3717G>C (p.Glu1239Asp) c.3699G>C (p.Glu1233Asp) c.3636G>C (p.Glu1212Asp) | |
| 11 | g.47332169C>T | CA474428862 | MYBPC3 | c.3717G>A (p.Glu1239=) c.3699G>A (p.Glu1233=) c.3636G>A (p.Glu1212=) | |
| 11 | g.47332170_47332172del | CA2695213899 | MYBPC3 | c.3715_3717del (p.Glu1239del) c.3697_3699del (p.Glu1233del) c.3634_3636del (p.Glu1212del) | |
| 11 | g.47332173_47332186del | CA937665251 | MYBPC3 | c.3704_3717del (p.Val1235AspfsTer2) c.3686_3699del (p.Val1229AspfsTer2) c.3623_3636del (p.Val1208AspfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47332170T>A | CA380311183 | MYBPC3 | c.3716A>T (p.Glu1239Val) c.3698A>T (p.Glu1233Val) c.3635A>T (p.Glu1212Val) | |
| 11 | g.47332170T>C | CA380311184 | MYBPC3 | c.3716A>G (p.Glu1239Gly) c.3698A>G (p.Glu1233Gly) c.3635A>G (p.Glu1212Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332170T>G | CA380311186 | MYBPC3 | c.3716A>C (p.Glu1239Ala) c.3698A>C (p.Glu1233Ala) c.3635A>C (p.Glu1212Ala) | |
| 11 | g.47332170T= | CA1969333435 | MYBPC3 | c.3716A= (p.Glu1239=) c.3698A= (p.Glu1233=) c.3635A= (p.Glu1212=) | |
| 11 | g.47332171C>A | CA380311191 | MYBPC3 | c.3715G>T (p.Glu1239Ter) c.3697G>T (p.Glu1233Ter) c.3634G>T (p.Glu1212Ter) | |
| 11 | g.47332171C= | CA1969333437 | MYBPC3 | c.3715G= (p.Glu1239=) c.3697G= (p.Glu1233=) c.3634G= (p.Glu1212=) | |
| 11 | g.47332171C>G | CA380311189 | MYBPC3 | c.3715G>C (p.Glu1239Gln) c.3697G>C (p.Glu1233Gln) c.3634G>C (p.Glu1212Gln) | |
| 11 | g.47332171C>T | CA079515 | MYBPC3 | c.3715G>A (p.Glu1239Lys) c.3697G>A (p.Glu1233Lys) c.3634G>A (p.Glu1212Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.47332172C>A | CA474428863 | MYBPC3 | c.3714G>T (p.Leu1238=) c.3696G>T (p.Leu1232=) c.3633G>T (p.Leu1211=) | |
| 11 | g.47332172C>G | CA474428864 | MYBPC3 | c.3714G>C (p.Leu1238=) c.3696G>C (p.Leu1232=) c.3633G>C (p.Leu1211=) | |
| 11 | g.47332172C>T | CA474428865 | MYBPC3 | c.3714G>A (p.Leu1238=) c.3696G>A (p.Leu1232=) c.3633G>A (p.Leu1211=) | |
| 11 | g.47332172_47332173del | CA2580084175 | MYBPC3 | c.3713_3714del (p.Leu1238ArgfsTer3) c.3695_3696del (p.Leu1232ArgfsTer3) c.3632_3633del (p.Leu1211ArgfsTer3) | ClinVar |
| 11 | g.47332172_47332174delinsCAG | CA1969333439 | MYBPC3 | c.3712_3714delinsCTG (p.Leu1238=) c.3694_3696delinsCTG (p.Leu1232=) c.3631_3633delinsCTG (p.Leu1211=) | |
| 11 | g.47332173A= | CA1969333443 | MYBPC3 | c.3713T= (p.Leu1238=) c.3695T= (p.Leu1232=) c.3632T= (p.Leu1211=) | |
| 11 | g.47332173A>C | CA380311202 | MYBPC3 | c.3713T>G (p.Leu1238Arg) c.3695T>G (p.Leu1232Arg) c.3632T>G (p.Leu1211Arg) | |
| 11 | g.47332173A>G | CA014684 | MYBPC3 | c.3713T>C (p.Leu1238Pro) c.3695T>C (p.Leu1232Pro) c.3632T>C (p.Leu1211Pro) | ClinVar dbSNP |
| 11 | g.47332173A>T | CA380311206 | MYBPC3 | c.3713T>A (p.Leu1238Gln) c.3695T>A (p.Leu1232Gln) c.3632T>A (p.Leu1211Gln) | |
| 11 | g.47332175_47332176del | CA279582 | MYBPC3 | c.3712_3713del (p.Leu1238GlyfsTer3) c.3694_3695del (p.Leu1232GlyfsTer3) c.3631_3632del (p.Leu1211GlyfsTer3) | ClinVar dbSNP |
| 11 | g.47332174G>A | CA221681802 | MYBPC3 | c.3712C>T (p.Leu1238=) c.3694C>T (p.Leu1232=) c.3631C>T (p.Leu1211=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47332174G>C | CA380311213 | MYBPC3 | c.3712C>G (p.Leu1238Val) c.3694C>G (p.Leu1232Val) c.3631C>G (p.Leu1211Val) | |
| 11 | g.47332174G= | CA1969333444 | MYBPC3 | c.3712C= (p.Leu1238=) c.3694C= (p.Leu1232=) c.3631C= (p.Leu1211=) | |
| 11 | g.47332174G>T | CA380311215 | MYBPC3 | c.3712C>A (p.Leu1238Met) c.3694C>A (p.Leu1232Met) c.3631C>A (p.Leu1211Met) | |
| 11 | g.47332175A= | CA1969333445 | MYBPC3 | c.3711T= (p.Thr1237=) c.3693T= (p.Thr1231=) c.3630T= (p.Thr1210=) | |
| 11 | g.47332175A>C | CA474428866 | MYBPC3 | c.3711T>G (p.Thr1237=) c.3693T>G (p.Thr1231=) c.3630T>G (p.Thr1210=) | |
| 11 | g.47332175A>G | CA474428868 | MYBPC3 | c.3711T>C (p.Thr1237=) c.3693T>C (p.Thr1231=) c.3630T>C (p.Thr1210=) | dbSNP |
| 11 | g.47332175A>T | CA474428867 | MYBPC3 | c.3711T>A (p.Thr1237=) c.3693T>A (p.Thr1231=) c.3630T>A (p.Thr1210=) | |
| 11 | g.47332176G>A | CA380311217 | MYBPC3 | c.3710C>T (p.Thr1237Ile) c.3692C>T (p.Thr1231Ile) c.3629C>T (p.Thr1210Ile) | |
| 11 | g.47332176G>C | CA380311221 | MYBPC3 | c.3710C>G (p.Thr1237Ser) c.3692C>G (p.Thr1231Ser) c.3629C>G (p.Thr1210Ser) | |
| 11 | g.47332176G>T | CA380311220 | MYBPC3 | c.3710C>A (p.Thr1237Asn) c.3692C>A (p.Thr1231Asn) c.3629C>A (p.Thr1210Asn) | |
| 11 | g.47332177T>A | CA380311223 | MYBPC3 | c.3709A>T (p.Thr1237Ser) c.3691A>T (p.Thr1231Ser) c.3628A>T (p.Thr1210Ser) | |
| 11 | g.47332177T>C | CA380311226 | MYBPC3 | c.3709A>G (p.Thr1237Ala) c.3691A>G (p.Thr1231Ala) c.3628A>G (p.Thr1210Ala) | |
| 11 | g.47332177T>G | CA014678 | MYBPC3 | c.3709A>C (p.Thr1237Pro) c.3691A>C (p.Thr1231Pro) c.3628A>C (p.Thr1210Pro) | ClinVar dbSNP |
| 11 | g.47332177T= | CA1969333446 | MYBPC3 | c.3709A= (p.Thr1237=) c.3691A= (p.Thr1231=) c.3628A= (p.Thr1210=) | |
| 11 | g.47332178C>A | CA380311232 | MYBPC3 | c.3708G>T (p.Leu1236Phe) c.3690G>T (p.Leu1230Phe) c.3627G>T (p.Leu1209Phe) | |
| 11 | g.47332178C= | CA1969333450 | MYBPC3 | c.3708G= (p.Leu1236=) c.3690G= (p.Leu1230=) c.3627G= (p.Leu1209=) | |
| 11 | g.47332178C>G | CA380311237 | MYBPC3 | c.3708G>C (p.Leu1236Phe) c.3690G>C (p.Leu1230Phe) c.3627G>C (p.Leu1209Phe) | |
| 11 | g.47332178C>T | CA079512 | MYBPC3 | c.3708G>A (p.Leu1236=) c.3690G>A (p.Leu1230=) c.3627G>A (p.Leu1209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332179A= | CA1969333452 | MYBPC3 | c.3707T= (p.Leu1236=) c.3689T= (p.Leu1230=) c.3626T= (p.Leu1209=) | |
| 11 | g.47332179A>C | CA380311245 | MYBPC3 | c.3707T>G (p.Leu1236Trp) c.3689T>G (p.Leu1230Trp) c.3626T>G (p.Leu1209Trp) | |
| 11 | g.47332179A>G | CA380311246 | MYBPC3 | c.3707T>C (p.Leu1236Ser) c.3689T>C (p.Leu1230Ser) c.3626T>C (p.Leu1209Ser) | dbSNP |
| 11 | g.47332179A>T | CA380311249 | MYBPC3 | c.3707T>A (p.Leu1236Ter) c.3689T>A (p.Leu1230Ter) c.3626T>A (p.Leu1209Ter) | |
| 11 | g.47332180A>C | CA380311254 | MYBPC3 | c.3706T>G (p.Leu1236Val) c.3688T>G (p.Leu1230Val) c.3625T>G (p.Leu1209Val) | |
| 11 | g.47332180A>G | CA474428869 | MYBPC3 | c.3706T>C (p.Leu1236=) c.3688T>C (p.Leu1230=) c.3625T>C (p.Leu1209=) | |
| 11 | g.47332180A>T | CA380311256 | MYBPC3 | c.3706T>A (p.Leu1236Met) c.3688T>A (p.Leu1230Met) c.3625T>A (p.Leu1209Met) | |
| 11 | g.47332181C>A | CA474428870 | MYBPC3 | c.3705G>T (p.Val1235=) c.3687G>T (p.Val1229=) c.3624G>T (p.Val1208=) | |
| 11 | g.47332181C= | CA1969333453 | MYBPC3 | c.3705G= (p.Val1235=) c.3687G= (p.Val1229=) c.3624G= (p.Val1208=) | |
| 11 | g.47332181C>G | CA474428871 | MYBPC3 | c.3705G>C (p.Val1235=) c.3687G>C (p.Val1229=) c.3624G>C (p.Val1208=) | |
| 11 | g.47332181C>T | CA014668 | MYBPC3 | c.3705G>A (p.Val1235=) c.3687G>A (p.Val1229=) c.3624G>A (p.Val1208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47332182A= | CA1969333455 | MYBPC3 | c.3704T= (p.Val1235=) c.3686T= (p.Val1229=) c.3623T= (p.Val1208=) | |
| 11 | g.47332182A>C | CA380311265 | MYBPC3 | c.3704T>G (p.Val1235Gly) c.3686T>G (p.Val1229Gly) c.3623T>G (p.Val1208Gly) | |
| 11 | g.47332182A>G | CA380311262 | MYBPC3 | c.3704T>C (p.Val1235Ala) c.3686T>C (p.Val1229Ala) c.3623T>C (p.Val1208Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47332182A>T | CA380311272 | MYBPC3 | c.3704T>A (p.Val1235Glu) c.3686T>A (p.Val1229Glu) c.3623T>A (p.Val1208Glu) | |
| 11 | g.47332183C>A | CA380311276 | MYBPC3 | c.3703G>T (p.Val1235Leu) c.3685G>T (p.Val1229Leu) c.3622G>T (p.Val1208Leu) | ClinVar dbSNP |
| 11 | g.47332183C= | CA1969333457 | MYBPC3 | c.3703G= (p.Val1235=) c.3685G= (p.Val1229=) c.3622G= (p.Val1208=) | |
| 11 | g.47332183C>G | CA380311280 | MYBPC3 | c.3703G>C (p.Val1235Leu) c.3685G>C (p.Val1229Leu) c.3622G>C (p.Val1208Leu) | |
| 11 | g.47332183C>T | CA380311283 | MYBPC3 | c.3703G>A (p.Val1235Met) c.3685G>A (p.Val1229Met) c.3622G>A (p.Val1208Met) | |
| 11 | g.47332184_47332185del | CA2573146357 | MYBPC3 | c.3702_3703del (p.Leu1236AspfsTer5) c.3684_3685del (p.Leu1230AspfsTer5) c.3621_3622del (p.Leu1209AspfsTer5) | ClinVar dbSNP |
| 11 | g.47332184T>A | CA474428874 | MYBPC3 | c.3702A>T (p.Gly1234=) c.3684A>T (p.Gly1228=) c.3621A>T (p.Gly1207=) | |
| 11 | g.47332184T>C | CA474428872 | MYBPC3 | c.3702A>G (p.Gly1234=) c.3684A>G (p.Gly1228=) c.3621A>G (p.Gly1207=) | ClinVar gnomAD v4 |
| 11 | g.47332184T>G | CA474428873 | MYBPC3 | c.3702A>C (p.Gly1234=) c.3684A>C (p.Gly1228=) c.3621A>C (p.Gly1207=) | |
| 11 | g.47332185C>A | CA380311286 | MYBPC3 | c.3701G>T (p.Gly1234Val) c.3683G>T (p.Gly1228Val) c.3620G>T (p.Gly1207Val) | ClinVar dbSNP |
| 11 | g.47332185C= | CA1969333458 | MYBPC3 | c.3701G= (p.Gly1234=) c.3683G= (p.Gly1228=) c.3620G= (p.Gly1207=) | |
| 11 | g.47332185C>G | CA380311287 | MYBPC3 | c.3701G>C (p.Gly1234Ala) c.3683G>C (p.Gly1228Ala) c.3620G>C (p.Gly1207Ala) | |
| 11 | g.47332185C>T | CA380311291 | MYBPC3 | c.3701G>A (p.Gly1234Glu) c.3683G>A (p.Gly1228Glu) c.3620G>A (p.Gly1207Glu) | ClinVar dbSNP |
| 11 | g.47332186C>A | CA380311302 | MYBPC3 | c.3700G>T (p.Gly1234Ter) c.3682G>T (p.Gly1228Ter) c.3619G>T (p.Gly1207Ter) | |
| 11 | g.47332186C= | CA1969333461 | MYBPC3 | c.3700G= (p.Gly1234=) c.3682G= (p.Gly1228=) c.3619G= (p.Gly1207=) | |
| 11 | g.47332186C>G | CA380311297 | MYBPC3 | c.3700G>C (p.Gly1234Arg) c.3682G>C (p.Gly1228Arg) c.3619G>C (p.Gly1207Arg) | |
| 11 | g.47332186C>T | CA380311293 | MYBPC3 | c.3700G>A (p.Gly1234Arg) c.3682G>A (p.Gly1228Arg) c.3619G>A (p.Gly1207Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332186_47332187delinsAG | CA2739270412 | MYBPC3 | c.3699_3700delinsCT (p.Gln1233HisfsTer2) c.3681_3682delinsCT (p.Gln1227HisfsTer2) c.3618_3619delinsCT (p.Gln1206HisfsTer2) | ClinVar |
| 11 | g.47332187C>A | CA380311305 | MYBPC3 | c.3699G>T (p.Gln1233His) c.3681G>T (p.Gln1227His) c.3618G>T (p.Gln1206His) | |
| 11 | g.47332187C= | CA1969333463 | MYBPC3 | c.3699G= (p.Gln1233=) c.3681G= (p.Gln1227=) c.3618G= (p.Gln1206=) | |
| 11 | g.47332187C>G | CA380311306 | MYBPC3 | c.3699G>C (p.Gln1233His) c.3681G>C (p.Gln1227His) c.3618G>C (p.Gln1206His) | ClinVar |
| 11 | g.47332187C>T | CA014658 | MYBPC3 | c.3699G>A (p.Gln1233=) c.3681G>A (p.Gln1227=) c.3618G>A (p.Gln1206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332188T>A | CA380311309 | MYBPC3 | c.3698A>T (p.Gln1233Leu) c.3680A>T (p.Gln1227Leu) c.3617A>T (p.Gln1206Leu) | |
| 11 | g.47332188T>C | CA380311310 | MYBPC3 | c.3698A>G (p.Gln1233Arg) c.3680A>G (p.Gln1227Arg) c.3617A>G (p.Gln1206Arg) | |
| 11 | g.47332188T>G | CA380311312 | MYBPC3 | c.3698A>C (p.Gln1233Pro) c.3680A>C (p.Gln1227Pro) c.3617A>C (p.Gln1206Pro) | |
| 11 | g.47332189G>A | CA014648 | MYBPC3 | c.3697C>T (p.Gln1233Ter) c.3679C>T (p.Gln1227Ter) c.3616C>T (p.Gln1206Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47332189G>C | CA380311316 | MYBPC3 | c.3697C>G (p.Gln1233Glu) c.3679C>G (p.Gln1227Glu) c.3616C>G (p.Gln1206Glu) | gnomAD v4 |
| 11 | g.47332189G= | CA1969333466 | MYBPC3 | c.3697C= (p.Gln1233=) c.3679C= (p.Gln1227=) c.3616C= (p.Gln1206=) | |
| 11 | g.47332189G>T | CA380311321 | MYBPC3 | c.3697C>A (p.Gln1233Lys) c.3679C>A (p.Gln1227Lys) c.3616C>A (p.Gln1206Lys) | |
| 11 | g.47332190C>A | CA380311328 | MYBPC3 | c.3696G>T (p.Lys1232Asn) c.3678G>T (p.Lys1226Asn) c.3615G>T (p.Lys1205Asn) | gnomAD v4 |
| 11 | g.47332190C= | CA1969333468 | MYBPC3 | c.3696G= (p.Lys1232=) c.3678G= (p.Lys1226=) c.3615G= (p.Lys1205=) | |
| 11 | g.47332190C>G | CA380311331 | MYBPC3 | c.3696G>C (p.Lys1232Asn) c.3678G>C (p.Lys1226Asn) c.3615G>C (p.Lys1205Asn) | |
| 11 | g.47332190C>T | CA054739 | MYBPC3 | c.3696G>A (p.Lys1232=) c.3678G>A (p.Lys1226=) c.3615G>A (p.Lys1205=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332191T>A | CA380311335 | MYBPC3 | c.3695A>T (p.Lys1232Met) c.3677A>T (p.Lys1226Met) c.3614A>T (p.Lys1205Met) | |
| 11 | g.47332191T>C | CA380311338 | MYBPC3 | c.3695A>G (p.Lys1232Arg) c.3677A>G (p.Lys1226Arg) c.3614A>G (p.Lys1205Arg) | |
| 11 | g.47332191T>G | CA380311351 | MYBPC3 | c.3695A>C (p.Lys1232Thr) c.3677A>C (p.Lys1226Thr) c.3614A>C (p.Lys1205Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332191T= | CA1969333470 | MYBPC3 | c.3695A= (p.Lys1232=) c.3677A= (p.Lys1226=) c.3614A= (p.Lys1205=) | |
| 11 | g.47332192T>A | CA014642 | MYBPC3 | c.3694A>T (p.Lys1232Ter) c.3676A>T (p.Lys1226Ter) c.3613A>T (p.Lys1205Ter) | ClinVar dbSNP |
| 11 | g.47332192T>C | CA380311360 | MYBPC3 | c.3694A>G (p.Lys1232Glu) c.3676A>G (p.Lys1226Glu) c.3613A>G (p.Lys1205Glu) | |
| 11 | g.47332192T>G | CA380311365 | MYBPC3 | c.3694A>C (p.Lys1232Gln) c.3676A>C (p.Lys1226Gln) c.3613A>C (p.Lys1205Gln) | gnomAD v4 |
| 11 | g.47332192T= | CA1969333471 | MYBPC3 | c.3694A= (p.Lys1232=) c.3676A= (p.Lys1226=) c.3613A= (p.Lys1205=) | |
| 11 | g.47332193G>A | CA474428875 | MYBPC3 | c.3693C>T (p.Ser1231=) c.3675C>T (p.Ser1225=) c.3612C>T (p.Ser1204=) | |
| 11 | g.47332193G>C | CA380311369 | MYBPC3 | c.3693C>G (p.Ser1231Arg) c.3675C>G (p.Ser1225Arg) c.3612C>G (p.Ser1204Arg) | |
| 11 | g.47332193G>T | CA380311374 | MYBPC3 | c.3693C>A (p.Ser1231Arg) c.3675C>A (p.Ser1225Arg) c.3612C>A (p.Ser1204Arg) | |
| 11 | g.47332194C>A | CA380311379 | MYBPC3 | c.3692G>T (p.Ser1231Ile) c.3674G>T (p.Ser1225Ile) c.3611G>T (p.Ser1204Ile) | |
| 11 | g.47332194C= | CA1969333474 | MYBPC3 | c.3692G= (p.Ser1231=) c.3674G= (p.Ser1225=) c.3611G= (p.Ser1204=) | |
| 11 | g.47332194C>G | CA380311382 | MYBPC3 | c.3692G>C (p.Ser1231Thr) c.3674G>C (p.Ser1225Thr) c.3611G>C (p.Ser1204Thr) | dbSNP |
| 11 | g.47332194C>T | CA380311385 | MYBPC3 | c.3692G>A (p.Ser1231Asn) c.3674G>A (p.Ser1225Asn) c.3611G>A (p.Ser1204Asn) | COSMIC COSMIC |
| 11 | g.47332194_47332196delinsCTG | CA1969333475 | MYBPC3 | c.3690_3692delinsCAG (p.Phe1230=) c.3672_3674delinsCAG (p.Phe1224=) c.3609_3611delinsCAG (p.Phe1203=) | |
| 11 | g.47332195T>A | CA380311400 | MYBPC3 | c.3691A>T (p.Ser1231Cys) c.3673A>T (p.Ser1225Cys) c.3610A>T (p.Ser1204Cys) | dbSNP |
| 11 | g.47332195T>C | CA380311390 | MYBPC3 | c.3691A>G (p.Ser1231Gly) c.3673A>G (p.Ser1225Gly) c.3610A>G (p.Ser1204Gly) | |
| 11 | g.47332195T>G | CA380311396 | MYBPC3 | c.3691A>C (p.Ser1231Arg) c.3673A>C (p.Ser1225Arg) c.3610A>C (p.Ser1204Arg) | |
| 11 | g.47332195T= | CA1969333477 | MYBPC3 | c.3691A= (p.Ser1231=) c.3673A= (p.Ser1225=) c.3610A= (p.Ser1204=) | |
| 11 | g.47332195_47332196del | CA014638 | MYBPC3 | c.3690_3691del (p.Phe1230LeufsTer11) c.3672_3673del (p.Phe1224LeufsTer11) c.3609_3610del (p.Phe1203LeufsTer11) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332195_47332198dup | CA2499220958 | MYBPC3 | c.3688_3691dup (p.Ser1231IlefsTer12) c.3670_3673dup (p.Ser1225IlefsTer12) c.3607_3610dup (p.Ser1204IlefsTer12) | ClinVar dbSNP |
| 11 | g.47332196G>A | CA474428876 | MYBPC3 | c.3690C>T (p.Phe1230=) c.3672C>T (p.Phe1224=) c.3609C>T (p.Phe1203=) | |
| 11 | g.47332196G>C | CA380311409 | MYBPC3 | c.3690C>G (p.Phe1230Leu) c.3672C>G (p.Phe1224Leu) c.3609C>G (p.Phe1203Leu) | |
| 11 | g.47332196G>T | CA380311405 | MYBPC3 | c.3690C>A (p.Phe1230Leu) c.3672C>A (p.Phe1224Leu) c.3609C>A (p.Phe1203Leu) | |
| 11 | g.47332197A>C | CA380311416 | MYBPC3 | c.3689T>G (p.Phe1230Cys) c.3671T>G (p.Phe1224Cys) c.3608T>G (p.Phe1203Cys) | |
| 11 | g.47332197A>G | CA380311419 | MYBPC3 | c.3689T>C (p.Phe1230Ser) c.3671T>C (p.Phe1224Ser) c.3608T>C (p.Phe1203Ser) | |
| 11 | g.47332197A>T | CA380311423 | MYBPC3 | c.3689T>A (p.Phe1230Tyr) c.3671T>A (p.Phe1224Tyr) c.3608T>A (p.Phe1203Tyr) | |
| 11 | g.47332198dup | CA2739291459 | MYBPC3 | c.3689dup (p.Ser1231GlnfsTer11) c.3671dup (p.Ser1225GlnfsTer11) c.3608dup (p.Ser1204GlnfsTer11) | |
| 11 | g.47332198del | CA2697548538 | MYBPC3 | c.3689del (p.Phe1230SerfsTer7) c.3671del (p.Phe1224SerfsTer7) c.3608del (p.Phe1203SerfsTer7) | ClinVar |
| 11 | g.47332198A= | CA1969333479 | MYBPC3 | c.3688T= (p.Phe1230=) c.3670T= (p.Phe1224=) c.3607T= (p.Phe1203=) | |
| 11 | g.47332198A>C | CA380311427 | MYBPC3 | c.3688T>G (p.Phe1230Val) c.3670T>G (p.Phe1224Val) c.3607T>G (p.Phe1203Val) | |
| 11 | g.47332198A>G | CA380311430 | MYBPC3 | c.3688T>C (p.Phe1230Leu) c.3670T>C (p.Phe1224Leu) c.3607T>C (p.Phe1203Leu) | ClinVar dbSNP |
| 11 | g.47332198A>T | CA380311434 | MYBPC3 | c.3688T>A (p.Phe1230Ile) c.3670T>A (p.Phe1224Ile) c.3607T>A (p.Phe1203Ile) | |
| 11 | g.47332199C>A | CA380311438 | MYBPC3 | c.3687G>T (p.Met1229Ile) c.3669G>T (p.Met1223Ile) c.3606G>T (p.Met1202Ile) | |
| 11 | g.47332199C>G | CA380311442 | MYBPC3 | c.3687G>C (p.Met1229Ile) c.3669G>C (p.Met1223Ile) c.3606G>C (p.Met1202Ile) | |
| 11 | g.47332199C>T | CA380311445 | MYBPC3 | c.3687G>A (p.Met1229Ile) c.3669G>A (p.Met1223Ile) c.3606G>A (p.Met1202Ile) | |
| 11 | g.47332200A= | CA1969333481 | MYBPC3 | c.3686T= (p.Met1229=) c.3668T= (p.Met1223=) c.3605T= (p.Met1202=) | |
| 11 | g.47332200A>C | CA380311448 | MYBPC3 | c.3686T>G (p.Met1229Arg) c.3668T>G (p.Met1223Arg) c.3605T>G (p.Met1202Arg) | |
| 11 | g.47332200A>G | CA380311452 | MYBPC3 | c.3686T>C (p.Met1229Thr) c.3668T>C (p.Met1223Thr) c.3605T>C (p.Met1202Thr) | ClinVar dbSNP |
| 11 | g.47332200A>T | CA380311456 | MYBPC3 | c.3686T>A (p.Met1229Lys) c.3668T>A (p.Met1223Lys) c.3605T>A (p.Met1202Lys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332201T>A | CA380311461 | MYBPC3 | c.3685A>T (p.Met1229Leu) c.3667A>T (p.Met1223Leu) c.3604A>T (p.Met1202Leu) | |
| 11 | g.47332201T>C | CA014628 | MYBPC3 | c.3685A>G (p.Met1229Val) c.3667A>G (p.Met1223Val) c.3604A>G (p.Met1202Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332201T>G | CA380311466 | MYBPC3 | c.3685A>C (p.Met1229Leu) c.3667A>C (p.Met1223Leu) c.3604A>C (p.Met1202Leu) | |
| 11 | g.47332201T= | CA1969333483 | MYBPC3 | c.3685A= (p.Met1229=) c.3667A= (p.Met1223=) c.3604A= (p.Met1202=) | |
| 11 | g.47332202G>A | CA474428879 | MYBPC3 | c.3684C>T (p.Arg1228=) c.3666C>T (p.Arg1222=) c.3603C>T (p.Arg1201=) | |
| 11 | g.47332202G>C | CA474428878 | MYBPC3 | c.3684C>G (p.Arg1228=) c.3666C>G (p.Arg1222=) c.3603C>G (p.Arg1201=) | |
| 11 | g.47332202G>T | CA474428877 | MYBPC3 | c.3684C>A (p.Arg1228=) c.3666C>A (p.Arg1222=) c.3603C>A (p.Arg1201=) | |
| 11 | g.47332203_47332204dup | CA2695213902 | MYBPC3 | c.3683_3684dup (p.Met1229AlafsTer9) c.3665_3666dup (p.Met1223AlafsTer9) c.3602_3603dup (p.Met1202AlafsTer9) | |
| 11 | g.47332203C>A | CA380311470 | MYBPC3 | c.3683G>T (p.Arg1228Leu) c.3665G>T (p.Arg1222Leu) c.3602G>T (p.Arg1201Leu) | gnomAD v4 |
| 11 | g.47332203C= | CA1969333487 | MYBPC3 | c.3683G= (p.Arg1228=) c.3665G= (p.Arg1222=) c.3602G= (p.Arg1201=) | |
| 11 | g.47332203C>G | CA014618 | MYBPC3 | c.3683G>C (p.Arg1228Pro) c.3665G>C (p.Arg1222Pro) c.3602G>C (p.Arg1201Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332203C>T | CA079505 | MYBPC3 | c.3683G>A (p.Arg1228His) c.3665G>A (p.Arg1222His) c.3602G>A (p.Arg1201His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332204G>A | CA014611 | MYBPC3 | c.3682C>T (p.Arg1228Cys) c.3664C>T (p.Arg1222Cys) c.3601C>T (p.Arg1201Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332204G>C | CA380311475 | MYBPC3 | c.3682C>G (p.Arg1228Gly) c.3664C>G (p.Arg1222Gly) c.3601C>G (p.Arg1201Gly) | |
| 11 | g.47332204G= | CA1969333490 | MYBPC3 | c.3682C= (p.Arg1228=) c.3664C= (p.Arg1222=) c.3601C= (p.Arg1201=) | |
| 11 | g.47332204G>T | CA380311478 | MYBPC3 | c.3682C>A (p.Arg1228Ser) c.3664C>A (p.Arg1222Ser) c.3601C>A (p.Arg1201Ser) | |
| 11 | g.47332205G>A | CA474428881 | MYBPC3 | c.3681C>T (p.Phe1227=) c.3663C>T (p.Phe1221=) c.3600C>T (p.Phe1200=) | dbSNP |
| 11 | g.47332205G>C | CA380311485 | MYBPC3 | c.3681C>G (p.Phe1227Leu) c.3663C>G (p.Phe1221Leu) c.3600C>G (p.Phe1200Leu) | |
| 11 | g.47332205G= | CA1969333491 | MYBPC3 | c.3681C= (p.Phe1227=) c.3663C= (p.Phe1221=) c.3600C= (p.Phe1200=) | |
| 11 | g.47332205G>T | CA380311487 | MYBPC3 | c.3681C>A (p.Phe1227Leu) c.3663C>A (p.Phe1221Leu) c.3600C>A (p.Phe1200Leu) | |
| 11 | g.47332206A>C | CA380311497 | MYBPC3 | c.3680T>G (p.Phe1227Cys) c.3662T>G (p.Phe1221Cys) c.3599T>G (p.Phe1200Cys) | |
| 11 | g.47332206A>G | CA380311499 | MYBPC3 | c.3680T>C (p.Phe1227Ser) c.3662T>C (p.Phe1221Ser) c.3599T>C (p.Phe1200Ser) | |
| 11 | g.47332206A>T | CA380311501 | MYBPC3 | c.3680T>A (p.Phe1227Tyr) c.3662T>A (p.Phe1221Tyr) c.3599T>A (p.Phe1200Tyr) | |
| 11 | g.47332207A= | CA1969333493 | MYBPC3 | c.3679T= (p.Phe1227=) c.3661T= (p.Phe1221=) c.3598T= (p.Phe1200=) | |
| 11 | g.47332207A>C | CA380311510 | MYBPC3 | c.3679T>G (p.Phe1227Val) c.3661T>G (p.Phe1221Val) c.3598T>G (p.Phe1200Val) | |
| 11 | g.47332207A>G | CA380311513 | MYBPC3 | c.3679T>C (p.Phe1227Leu) c.3661T>C (p.Phe1221Leu) c.3598T>C (p.Phe1200Leu) | gnomAD v4 |
| 11 | g.47332207A>T | CA014601 | MYBPC3 | c.3679T>A (p.Phe1227Ile) c.3661T>A (p.Phe1221Ile) c.3598T>A (p.Phe1200Ile) | ClinVar dbSNP |
| 11 | g.47332208G>A | CA474428885 | MYBPC3 | c.3678C>T (p.Arg1226=) c.3660C>T (p.Arg1220=) c.3597C>T (p.Arg1199=) | dbSNP gnomAD v4 |
| 11 | g.47332208G>C | CA474428886 | MYBPC3 | c.3678C>G (p.Arg1226=) c.3660C>G (p.Arg1220=) c.3597C>G (p.Arg1199=) | |
| 11 | g.47332208G= | CA1969333494 | MYBPC3 | c.3678C= (p.Arg1226=) c.3660C= (p.Arg1220=) c.3597C= (p.Arg1199=) | |
| 11 | g.47332208G>T | CA474428887 | MYBPC3 | c.3678C>A (p.Arg1226=) c.3660C>A (p.Arg1220=) c.3597C>A (p.Arg1199=) | |
| 11 | g.47332209C>A | CA014596 | MYBPC3 | c.3677G>T (p.Arg1226Leu) c.3659G>T (p.Arg1220Leu) c.3596G>T (p.Arg1199Leu) | ClinVar dbSNP |
| 11 | g.47332209C= | CA1969333497 | MYBPC3 | c.3677G= (p.Arg1226=) c.3659G= (p.Arg1220=) c.3596G= (p.Arg1199=) | |
| 11 | g.47332209C>G | CA380311524 | MYBPC3 | c.3677G>C (p.Arg1226Pro) c.3659G>C (p.Arg1220Pro) c.3596G>C (p.Arg1199Pro) | |
| 11 | g.47332209C>T | CA221681842 | MYBPC3 | c.3677G>A (p.Arg1226His) c.3659G>A (p.Arg1220His) c.3596G>A (p.Arg1199His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47332209dup | CA2580084178 | MYBPC3 | c.3677dup (p.Phe1227LeufsTer15) c.3659dup (p.Phe1221LeufsTer15) c.3596dup (p.Phe1200LeufsTer15) | ClinVar |
| 11 | g.47332210G>A | CA014587 | MYBPC3 | c.3676C>T (p.Arg1226Cys) c.3658C>T (p.Arg1220Cys) c.3595C>T (p.Arg1199Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332210G>C | CA380311533 | MYBPC3 | c.3676C>G (p.Arg1226Gly) c.3658C>G (p.Arg1220Gly) c.3595C>G (p.Arg1199Gly) | gnomAD v4 |
| 11 | g.47332210G= | CA1969333500 | MYBPC3 | c.3676C= (p.Arg1226=) c.3658C= (p.Arg1220=) c.3595C= (p.Arg1199=) | |
| 11 | g.47332210G>T | CA380311536 | MYBPC3 | c.3676C>A (p.Arg1226Ser) c.3658C>A (p.Arg1220Ser) c.3595C>A (p.Arg1199Ser) | |
| 11 | g.47332211G>A | CA474428889 | MYBPC3 | c.3675C>T (p.Ala1225=) c.3657C>T (p.Ala1219=) c.3594C>T (p.Ala1198=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47332211G>C | CA474428891 | MYBPC3 | c.3675C>G (p.Ala1225=) c.3657C>G (p.Ala1219=) c.3594C>G (p.Ala1198=) | gnomAD v4 |
| 11 | g.47332211G= | CA1969333503 | MYBPC3 | c.3675C= (p.Ala1225=) c.3657C= (p.Ala1219=) c.3594C= (p.Ala1198=) | |
| 11 | g.47332211G>T | CA474428890 | MYBPC3 | c.3675C>A (p.Ala1225=) c.3657C>A (p.Ala1219=) c.3594C>A (p.Ala1198=) | |
| 11 | g.47332212G>A | CA380311540 | MYBPC3 | c.3674C>T (p.Ala1225Val) c.3656C>T (p.Ala1219Val) c.3593C>T (p.Ala1198Val) | gnomAD v4 |
| 11 | g.47332212G>C | CA380311545 | MYBPC3 | c.3674C>G (p.Ala1225Gly) c.3656C>G (p.Ala1219Gly) c.3593C>G (p.Ala1198Gly) | |
| 11 | g.47332212G>T | CA380311560 | MYBPC3 | c.3674C>A (p.Ala1225Asp) c.3656C>A (p.Ala1219Asp) c.3593C>A (p.Ala1198Asp) | |
| 11 | g.47332213C>A | CA380311563 | MYBPC3 | c.3673G>T (p.Ala1225Ser) c.3655G>T (p.Ala1219Ser) c.3592G>T (p.Ala1198Ser) | COSMIC |
| 11 | g.47332213C= | CA1969333505 | MYBPC3 | c.3673G= (p.Ala1225=) c.3655G= (p.Ala1219=) c.3592G= (p.Ala1198=) | |
| 11 | g.47332213C>G | CA380311564 | MYBPC3 | c.3673G>C (p.Ala1225Pro) c.3655G>C (p.Ala1219Pro) c.3592G>C (p.Ala1198Pro) | |
| 11 | g.47332213C>T | CA380311567 | MYBPC3 | c.3673G>A (p.Ala1225Thr) c.3655G>A (p.Ala1219Thr) c.3592G>A (p.Ala1198Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332214G>A | CA014577 | MYBPC3 | c.3672C>T (p.Asp1224=) c.3654C>T (p.Asp1218=) c.3591C>T (p.Asp1197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47332214G>C | CA380311571 | MYBPC3 | c.3672C>G (p.Asp1224Glu) c.3654C>G (p.Asp1218Glu) c.3591C>G (p.Asp1197Glu) | |
| 11 | g.47332214G= | CA1969333507 | MYBPC3 | c.3672C= (p.Asp1224=) c.3654C= (p.Asp1218=) c.3591C= (p.Asp1197=) | |
| 11 | g.47332214G>T | CA380311573 | MYBPC3 | c.3672C>A (p.Asp1224Glu) c.3654C>A (p.Asp1218Glu) c.3591C>A (p.Asp1197Glu) | |
| 11 | g.47332215T>A | CA380311587 | MYBPC3 | c.3671A>T (p.Asp1224Val) c.3653A>T (p.Asp1218Val) c.3590A>T (p.Asp1197Val) | |
| 11 | g.47332215T>C | CA380311580 | MYBPC3 | c.3671A>G (p.Asp1224Gly) c.3653A>G (p.Asp1218Gly) c.3590A>G (p.Asp1197Gly) | |
| 11 | g.47332215T>G | CA380311584 | MYBPC3 | c.3671A>C (p.Asp1224Ala) c.3653A>C (p.Asp1218Ala) c.3590A>C (p.Asp1197Ala) | |
| 11 | g.47332218_47332220del | CA2613355859 | MYBPC3 | c.3669_3671del (p.Glu1223del) c.3651_3653del (p.Glu1217del) c.3588_3590del (p.Glu1196del) | gnomAD v4 |
| 11 | g.47332216C>A | CA380311591 | MYBPC3 | c.3670G>T (p.Asp1224Tyr) c.3652G>T (p.Asp1218Tyr) c.3589G>T (p.Asp1197Tyr) | |
| 11 | g.47332216C= | CA1969333509 | MYBPC3 | c.3670G= (p.Asp1224=) c.3652G= (p.Asp1218=) c.3589G= (p.Asp1197=) | |
| 11 | g.47332216C>G | CA380311599 | MYBPC3 | c.3670G>C (p.Asp1224His) c.3652G>C (p.Asp1218His) c.3589G>C (p.Asp1197His) | dbSNP gnomAD v2 |
| 11 | g.47332216C>T | CA079499 | MYBPC3 | c.3670G>A (p.Asp1224Asn) c.3652G>A (p.Asp1218Asn) c.3589G>A (p.Asp1197Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47332217T>A | CA380311604 | MYBPC3 | c.3669A>T (p.Glu1223Asp) c.3651A>T (p.Glu1217Asp) c.3588A>T (p.Glu1196Asp) | ClinVar dbSNP |
| 11 | g.47332217T>C | CA474428901 | MYBPC3 | c.3669A>G (p.Glu1223=) c.3651A>G (p.Glu1217=) c.3588A>G (p.Glu1196=) | |
| 11 | g.47332217T>G | CA380311606 | MYBPC3 | c.3669A>C (p.Glu1223Asp) c.3651A>C (p.Glu1217Asp) c.3588A>C (p.Glu1196Asp) | |
| 11 | g.47332217T= | CA1969333513 | MYBPC3 | c.3669A= (p.Glu1223=) c.3651A= (p.Glu1217=) c.3588A= (p.Glu1196=) | |
| 11 | g.47332217_47332219delinsTTC | CA1969333512 | MYBPC3 | c.3667_3669delinsGAA (p.Glu1223=) c.3649_3651delinsGAA (p.Glu1217=) c.3586_3588delinsGAA (p.Glu1196=) | |
| 11 | g.47332218T>A | CA380311612 | MYBPC3 | c.3668A>T (p.Glu1223Val) c.3650A>T (p.Glu1217Val) c.3587A>T (p.Glu1196Val) | |
| 11 | g.47332218T>C | CA079496 | MYBPC3 | c.3668A>G (p.Glu1223Gly) c.3650A>G (p.Glu1217Gly) c.3587A>G (p.Glu1196Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47332218T>G | CA380311619 | MYBPC3 | c.3668A>C (p.Glu1223Ala) c.3650A>C (p.Glu1217Ala) c.3587A>C (p.Glu1196Ala) | |
| 11 | g.47332218T= | CA1969333517 | MYBPC3 | c.3668A= (p.Glu1223=) c.3650A= (p.Glu1217=) c.3587A= (p.Glu1196=) | |
| 11 | g.47332220_47332221del | CA658820693 | MYBPC3 | c.3667_3668del (p.Glu1223ArgfsTer18) c.3649_3650del (p.Glu1217ArgfsTer18) c.3586_3587del (p.Glu1196ArgfsTer18) | ClinVar dbSNP |
| 11 | g.47332219C>A | CA380311628 | MYBPC3 | c.3667G>T (p.Glu1223Ter) c.3649G>T (p.Glu1217Ter) c.3586G>T (p.Glu1196Ter) | |
| 11 | g.47332219C= | CA1969333519 | MYBPC3 | c.3667G= (p.Glu1223=) c.3649G= (p.Glu1217=) c.3586G= (p.Glu1196=) | |
| 11 | g.47332219C>G | CA380311633 | MYBPC3 | c.3667G>C (p.Glu1223Gln) c.3649G>C (p.Glu1217Gln) c.3586G>C (p.Glu1196Gln) | |
| 11 | g.47332219C>T | CA054671 | MYBPC3 | c.3667G>A (p.Glu1223Lys) c.3649G>A (p.Glu1217Lys) c.3586G>A (p.Glu1196Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.47332220T>A | CA474428906 | MYBPC3 | c.3666A>T (p.Gly1222=) c.3648A>T (p.Gly1216=) c.3585A>T (p.Gly1195=) | |
| 11 | g.47332220T>C | CA474428907 | MYBPC3 | c.3666A>G (p.Gly1222=) c.3648A>G (p.Gly1216=) c.3585A>G (p.Gly1195=) | |
| 11 | g.47332220T>G | CA474428905 | MYBPC3 | c.3666A>C (p.Gly1222=) c.3648A>C (p.Gly1216=) c.3585A>C (p.Gly1195=) | |
| 11 | g.47332220_47332221delinsTC | CA1969333520 | MYBPC3 | c.3665_3666delinsGA (p.Gly1222=) c.3647_3648delinsGA (p.Gly1216=) c.3584_3585delinsGA (p.Gly1195=) | |
| 11 | g.47332221C>A | CA380311668 | MYBPC3 | c.3665G>T (p.Gly1222Val) c.3647G>T (p.Gly1216Val) c.3584G>T (p.Gly1195Val) | |
| 11 | g.47332221C>G | CA380311664 | MYBPC3 | c.3665G>C (p.Gly1222Ala) c.3647G>C (p.Gly1216Ala) c.3584G>C (p.Gly1195Ala) | |
| 11 | g.47332221C>T | CA380311640 | MYBPC3 | c.3665G>A (p.Gly1222Glu) c.3647G>A (p.Gly1216Glu) c.3584G>A (p.Gly1195Glu) | COSMIC COSMIC |
| 11 | g.47332223del | CA16613340 | MYBPC3 | c.3665del (p.Gly1222GlufsTer15) c.3647del (p.Gly1216GlufsTer15) c.3584del (p.Gly1195GlufsTer15) | ClinVar dbSNP |
| 11 | g.47332222C>A | CA014571 | MYBPC3 | c.3664G>T (p.Gly1222Ter) c.3646G>T (p.Gly1216Ter) c.3583G>T (p.Gly1195Ter) | ClinVar dbSNP |
| 11 | g.47332222C= | CA1969333523 | MYBPC3 | c.3664G= (p.Gly1222=) c.3646G= (p.Gly1216=) c.3583G= (p.Gly1195=) | |
| 11 | g.47332222C>G | CA380311679 | MYBPC3 | c.3664G>C (p.Gly1222Arg) c.3646G>C (p.Gly1216Arg) c.3583G>C (p.Gly1195Arg) | |
| 11 | g.47332222C>T | CA054649 | MYBPC3 | c.3664G>A (p.Gly1222Arg) c.3646G>A (p.Gly1216Arg) c.3583G>A (p.Gly1195Arg) | |
| 11 | g.47332223C>A | CA474428910 | MYBPC3 | c.3663G>T (p.Leu1221=) c.3645G>T (p.Leu1215=) c.3582G>T (p.Leu1194=) | |
| 11 | g.47332223C= | CA1969333526 | MYBPC3 | c.3663G= (p.Leu1221=) c.3645G= (p.Leu1215=) c.3582G= (p.Leu1194=) | |
| 11 | g.47332223C>G | CA474428908 | MYBPC3 | c.3663G>C (p.Leu1221=) c.3645G>C (p.Leu1215=) c.3582G>C (p.Leu1194=) | |
| 11 | g.47332223C>T | CA474428909 | MYBPC3 | c.3663G>A (p.Leu1221=) c.3645G>A (p.Leu1215=) c.3582G>A (p.Leu1194=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332223_47332224delinsCA | CA1969333530 | MYBPC3 | c.3662_3663delinsTG (p.Leu1221=) c.3644_3645delinsTG (p.Leu1215=) c.3581_3582delinsTG (p.Leu1194=) | |
| 11 | g.47332223_47332227delinsCAGGT | CA1969333529 | MYBPC3 | c.3659_3663delinsACCTG (p.Asp1220=) c.3641_3645delinsACCTG (p.Asp1214=) c.3578_3582delinsACCTG (p.Asp1193=) | |
| 11 | g.47332223_47332243delinsCAGGTCCAGGCCATTCTTGAA | CA1969333527 | MYBPC3 | c.3643_3663delinsTTCAAGAATGGCCTGGACCTG (p.Phe1215=) c.3625_3645delinsTTCAAGAATGGCCTGGACCTG (p.Phe1209=) c.3562_3582delinsTTCAAGAATGGCCTGGACCTG (p.Phe1188=) | |
| 11 | g.47332224del | CA279321 | MYBPC3 | c.3662del (p.Leu1221ArgfsTer16) c.3644del (p.Leu1215ArgfsTer16) c.3581del (p.Leu1194ArgfsTer16) | ClinVar dbSNP |
| 11 | g.47332224A= | CA1969333535 | MYBPC3 | c.3662T= (p.Leu1221=) c.3644T= (p.Leu1215=) c.3581T= (p.Leu1194=) | |
| 11 | g.47332224A>C | CA380311698 | MYBPC3 | c.3662T>G (p.Leu1221Arg) c.3644T>G (p.Leu1215Arg) c.3581T>G (p.Leu1194Arg) | |
| 11 | g.47332224A>G | CA380311701 | MYBPC3 | c.3662T>C (p.Leu1221Pro) c.3644T>C (p.Leu1215Pro) c.3581T>C (p.Leu1194Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332224A>T | CA380311704 | MYBPC3 | c.3662T>A (p.Leu1221Gln) c.3644T>A (p.Leu1215Gln) c.3581T>A (p.Leu1194Gln) | |
| 11 | g.47332224_47332227del | CA2695213903 | MYBPC3 | c.3659_3662del (p.Asp1220GlyfsTer16) c.3641_3644del (p.Asp1214GlyfsTer16) c.3578_3581del (p.Asp1193GlyfsTer16) | |
| 11 | g.47332224_47332227delinsGCCATTCTTGAA | CA10602350 | MYBPC3 | c.3659_3662delinsTTCAAGAATGGC (p.Asp1220ValfsTer20) c.3641_3644delinsTTCAAGAATGGC (p.Asp1214ValfsTer20) c.3578_3581delinsTTCAAGAATGGC (p.Asp1193ValfsTer20) | ClinVar dbSNP |
| 11 | g.47332224_47332243delinsCAAGAATGGC | CA918872511 | MYBPC3 | c.3643_3662delinsGCCATTCTTG (p.Phe1215AlafsTer19) c.3625_3644delinsGCCATTCTTG (p.Phe1209AlafsTer19) c.3562_3581delinsGCCATTCTTG (p.Phe1188AlafsTer19) | dbSNP |
| 11 | g.47332225G>A | CA474428911 | MYBPC3 | c.3661C>T (p.Leu1221=) c.3643C>T (p.Leu1215=) c.3580C>T (p.Leu1194=) | |
| 11 | g.47332225G>C | CA380311708 | MYBPC3 | c.3661C>G (p.Leu1221Val) c.3643C>G (p.Leu1215Val) c.3580C>G (p.Leu1194Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47332225G= | CA1969333538 | MYBPC3 | c.3661C= (p.Leu1221=) c.3643C= (p.Leu1215=) c.3580C= (p.Leu1194=) | |
| 11 | g.47332225G>T | CA380311711 | MYBPC3 | c.3661C>A (p.Leu1221Met) c.3643C>A (p.Leu1215Met) c.3580C>A (p.Leu1194Met) | |
| 11 | g.47332226G>A | CA474428912 | MYBPC3 | c.3660C>T (p.Asp1220=) c.3642C>T (p.Asp1214=) c.3579C>T (p.Asp1193=) | gnomAD v4 |
| 11 | g.47332226G>C | CA380311714 | MYBPC3 | c.3660C>G (p.Asp1220Glu) c.3642C>G (p.Asp1214Glu) c.3579C>G (p.Asp1193Glu) | |
| 11 | g.47332226G>T | CA380311717 | MYBPC3 | c.3660C>A (p.Asp1220Glu) c.3642C>A (p.Asp1214Glu) c.3579C>A (p.Asp1193Glu) | |
| 11 | g.47332227T>A | CA380311726 | MYBPC3 | c.3659A>T (p.Asp1220Val) c.3641A>T (p.Asp1214Val) c.3578A>T (p.Asp1193Val) | |
| 11 | g.47332227T>C | CA380311731 | MYBPC3 | c.3659A>G (p.Asp1220Gly) c.3641A>G (p.Asp1214Gly) c.3578A>G (p.Asp1193Gly) | |
| 11 | g.47332227T>G | CA380311723 | MYBPC3 | c.3659A>C (p.Asp1220Ala) c.3641A>C (p.Asp1214Ala) c.3578A>C (p.Asp1193Ala) | ClinVar |
| 11 | g.47332228C>A | CA380311736 | MYBPC3 | c.3658G>T (p.Asp1220Tyr) c.3640G>T (p.Asp1214Tyr) c.3577G>T (p.Asp1193Tyr) | |
| 11 | g.47332228C= | CA1969333543 | MYBPC3 | c.3658G= (p.Asp1220=) c.3640G= (p.Asp1214=) c.3577G= (p.Asp1193=) | |
| 11 | g.47332228C>G | CA380311738 | MYBPC3 | c.3658G>C (p.Asp1220His) c.3640G>C (p.Asp1214His) c.3577G>C (p.Asp1193His) | |
| 11 | g.47332228C>T | CA380311740 | MYBPC3 | c.3658G>A (p.Asp1220Asn) c.3640G>A (p.Asp1214Asn) c.3577G>A (p.Asp1193Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47332229C>A | CA079493 | MYBPC3 | c.3657G>T (p.Leu1219=) c.3639G>T (p.Leu1213=) c.3576G>T (p.Leu1192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332229C= | CA1969333549 | MYBPC3 | c.3657G= (p.Leu1219=) c.3639G= (p.Leu1213=) c.3576G= (p.Leu1192=) | |
| 11 | g.47332229C>G | CA474428913 | MYBPC3 | c.3657G>C (p.Leu1219=) c.3639G>C (p.Leu1213=) c.3576G>C (p.Leu1192=) | |
| 11 | g.47332229C>T | CA474428914 | MYBPC3 | c.3657G>A (p.Leu1219=) c.3639G>A (p.Leu1213=) c.3576G>A (p.Leu1192=) | |
| 11 | g.47332230A= | CA1969333551 | MYBPC3 | c.3656T= (p.Leu1219=) c.3638T= (p.Leu1213=) c.3575T= (p.Leu1192=) | |
| 11 | g.47332230A>C | CA380311759 | MYBPC3 | c.3656T>G (p.Leu1219Arg) c.3638T>G (p.Leu1213Arg) c.3575T>G (p.Leu1192Arg) | |
| 11 | g.47332230A>G | CA380311754 | MYBPC3 | c.3656T>C (p.Leu1219Pro) c.3638T>C (p.Leu1213Pro) c.3575T>C (p.Leu1192Pro) | dbSNP gnomAD v4 |
| 11 | g.47332230A>T | CA380311751 | MYBPC3 | c.3656T>A (p.Leu1219Gln) c.3638T>A (p.Leu1213Gln) c.3575T>A (p.Leu1192Gln) | |
| 11 | g.47332231G>A | CA474428915 | MYBPC3 | c.3655C>T (p.Leu1219=) c.3637C>T (p.Leu1213=) c.3574C>T (p.Leu1192=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47332231G>C | CA380311760 | MYBPC3 | c.3655C>G (p.Leu1219Val) c.3637C>G (p.Leu1213Val) c.3574C>G (p.Leu1192Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47332231G= | CA1969333563 | MYBPC3 | c.3655C= (p.Leu1219=) c.3637C= (p.Leu1213=) c.3574C= (p.Leu1192=) | |
| 11 | g.47332231G>T | CA380311761 | MYBPC3 | c.3655C>A (p.Leu1219Met) c.3637C>A (p.Leu1213Met) c.3574C>A (p.Leu1192Met) | |
| 11 | g.47332232G>A | CA054638 | MYBPC3 | c.3654C>T (p.Gly1218=) c.3636C>T (p.Gly1212=) c.3573C>T (p.Gly1191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332232G>C | CA474428916 | MYBPC3 | c.3654C>G (p.Gly1218=) c.3636C>G (p.Gly1212=) c.3573C>G (p.Gly1191=) | |
| 11 | g.47332232G= | CA1969333569 | MYBPC3 | c.3654C= (p.Gly1218=) c.3636C= (p.Gly1212=) c.3573C= (p.Gly1191=) | |
| 11 | g.47332232G>T | CA474428917 | MYBPC3 | c.3654C>A (p.Gly1218=) c.3636C>A (p.Gly1212=) c.3573C>A (p.Gly1191=) | |
| 11 | g.47332233C>A | CA380311766 | MYBPC3 | c.3653G>T (p.Gly1218Val) c.3635G>T (p.Gly1212Val) c.3572G>T (p.Gly1191Val) | |
| 11 | g.47332233C>G | CA380311769 | MYBPC3 | c.3653G>C (p.Gly1218Ala) c.3635G>C (p.Gly1212Ala) c.3572G>C (p.Gly1191Ala) | ClinVar dbSNP |
| 11 | g.47332233C>T | CA380311771 | MYBPC3 | c.3653G>A (p.Gly1218Asp) c.3635G>A (p.Gly1212Asp) c.3572G>A (p.Gly1191Asp) | |
| 11 | g.47332234C>A | CA380311780 | MYBPC3 | c.3652G>T (p.Gly1218Cys) c.3634G>T (p.Gly1212Cys) c.3571G>T (p.Gly1191Cys) | |
| 11 | g.47332234C>G | CA380311788 | MYBPC3 | c.3652G>C (p.Gly1218Arg) c.3634G>C (p.Gly1212Arg) c.3571G>C (p.Gly1191Arg) | |
| 11 | g.47332234C>T | CA380311782 | MYBPC3 | c.3652G>A (p.Gly1218Ser) c.3634G>A (p.Gly1212Ser) c.3571G>A (p.Gly1191Ser) | |
| 11 | g.47332235A= | CA1969333577 | MYBPC3 | c.3651T= (p.Asn1217=) c.3633T= (p.Asn1211=) c.3570T= (p.Asn1190=) | |
| 11 | g.47332235A>C | CA380311793 | MYBPC3 | c.3651T>G (p.Asn1217Lys) c.3633T>G (p.Asn1211Lys) c.3570T>G (p.Asn1190Lys) | |
| 11 | g.47332235A>G | CA079489 | MYBPC3 | c.3651T>C (p.Asn1217=) c.3633T>C (p.Asn1211=) c.3570T>C (p.Asn1190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332235A>T | CA380311794 | MYBPC3 | c.3651T>A (p.Asn1217Lys) c.3633T>A (p.Asn1211Lys) c.3570T>A (p.Asn1190Lys) | gnomAD v4 |
| 11 | g.47332236T>A | CA380311797 | MYBPC3 | c.3650A>T (p.Asn1217Ile) c.3632A>T (p.Asn1211Ile) c.3569A>T (p.Asn1190Ile) | |
| 11 | g.47332236T>C | CA380311805 | MYBPC3 | c.3650A>G (p.Asn1217Ser) c.3632A>G (p.Asn1211Ser) c.3569A>G (p.Asn1190Ser) | |
| 11 | g.47332236T>G | CA380311801 | MYBPC3 | c.3650A>C (p.Asn1217Thr) c.3632A>C (p.Asn1211Thr) c.3569A>C (p.Asn1190Thr) | |
| 11 | g.47332237T>A | CA380311809 | MYBPC3 | c.3649A>T (p.Asn1217Tyr) c.3631A>T (p.Asn1211Tyr) c.3568A>T (p.Asn1190Tyr) | |
| 11 | g.47332237T>C | CA380311817 | MYBPC3 | c.3649A>G (p.Asn1217Asp) c.3631A>G (p.Asn1211Asp) c.3568A>G (p.Asn1190Asp) | |
| 11 | g.47332237T>G | CA380311818 | MYBPC3 | c.3649A>C (p.Asn1217His) c.3631A>C (p.Asn1211His) c.3568A>C (p.Asn1190His) | |
| 11 | g.47332238C>A | CA380311822 | MYBPC3 | c.3648G>T (p.Lys1216Asn) c.3630G>T (p.Lys1210Asn) c.3567G>T (p.Lys1189Asn) | ClinVar |
| 11 | g.47332238C>G | CA380311826 | MYBPC3 | c.3648G>C (p.Lys1216Asn) c.3630G>C (p.Lys1210Asn) c.3567G>C (p.Lys1189Asn) | |
| 11 | g.47332238C>T | CA474428918 | MYBPC3 | c.3648G>A (p.Lys1216=) c.3630G>A (p.Lys1210=) c.3567G>A (p.Lys1189=) | |
| 11 | g.47332239T>A | CA380311830 | MYBPC3 | c.3647A>T (p.Lys1216Met) c.3629A>T (p.Lys1210Met) c.3566A>T (p.Lys1189Met) | |
| 11 | g.47332239T>C | CA380311833 | MYBPC3 | c.3647A>G (p.Lys1216Arg) c.3629A>G (p.Lys1210Arg) c.3566A>G (p.Lys1189Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332239T>G | CA380311836 | MYBPC3 | c.3647A>C (p.Lys1216Thr) c.3629A>C (p.Lys1210Thr) c.3566A>C (p.Lys1189Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332239T= | CA1969333590 | MYBPC3 | c.3647A= (p.Lys1216=) c.3629A= (p.Lys1210=) c.3566A= (p.Lys1189=) | |
| 11 | g.47332240T>A | CA380311841 | MYBPC3 | c.3646A>T (p.Lys1216Ter) c.3628A>T (p.Lys1210Ter) c.3565A>T (p.Lys1189Ter) | |
| 11 | g.47332240T>C | CA380311846 | MYBPC3 | c.3646A>G (p.Lys1216Glu) c.3628A>G (p.Lys1210Glu) c.3565A>G (p.Lys1189Glu) | |
| 11 | g.47332240T>G | CA380311848 | MYBPC3 | c.3646A>C (p.Lys1216Gln) c.3628A>C (p.Lys1210Gln) c.3565A>C (p.Lys1189Gln) | |
| 11 | g.47332241G>A | CA474428919 | MYBPC3 | c.3645C>T (p.Phe1215=) c.3627C>T (p.Phe1209=) c.3564C>T (p.Phe1188=) | gnomAD v4 |
| 11 | g.47332241G>C | CA380311852 | MYBPC3 | c.3645C>G (p.Phe1215Leu) c.3627C>G (p.Phe1209Leu) c.3564C>G (p.Phe1188Leu) | |
| 11 | g.47332241G= | CA1969333593 | MYBPC3 | c.3645C= (p.Phe1215=) c.3627C= (p.Phe1209=) c.3564C= (p.Phe1188=) | |
| 11 | g.47332241G>T | CA380311856 | MYBPC3 | c.3645C>A (p.Phe1215Leu) c.3627C>A (p.Phe1209Leu) c.3564C>A (p.Phe1188Leu) | |
| 11 | g.47332242A= | CA1969333601 | MYBPC3 | c.3644T= (p.Phe1215=) c.3626T= (p.Phe1209=) c.3563T= (p.Phe1188=) | |
| 11 | g.47332242A>C | CA380311870 | MYBPC3 | c.3644T>G (p.Phe1215Cys) c.3626T>G (p.Phe1209Cys) c.3563T>G (p.Phe1188Cys) | |
| 11 | g.47332242A>G | CA380311873 | MYBPC3 | c.3644T>C (p.Phe1215Ser) c.3626T>C (p.Phe1209Ser) c.3563T>C (p.Phe1188Ser) | |
| 11 | g.47332242A>T | CA380311877 | MYBPC3 | c.3644T>A (p.Phe1215Tyr) c.3626T>A (p.Phe1209Tyr) c.3563T>A (p.Phe1188Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47332243dup | CA014559 | MYBPC3 | c.3644dup (p.Lys1216GlnfsTer26) c.3626dup (p.Lys1210GlnfsTer26) c.3563dup (p.Lys1189GlnfsTer26) | ClinVar dbSNP |
| 11 | g.47332243A>C | CA380311881 | MYBPC3 | c.3643T>G (p.Phe1215Val) c.3625T>G (p.Phe1209Val) c.3562T>G (p.Phe1188Val) | |
| 11 | g.47332243A>G | CA380311885 | MYBPC3 | c.3643T>C (p.Phe1215Leu) c.3625T>C (p.Phe1209Leu) c.3562T>C (p.Phe1188Leu) | gnomAD v4 |
| 11 | g.47332243A>T | CA380311888 | MYBPC3 | c.3643T>A (p.Phe1215Ile) c.3625T>A (p.Phe1209Ile) c.3562T>A (p.Phe1188Ile) | |
| 11 | g.47332244C>A | CA380311893 | MYBPC3 | c.3642G>T (p.Trp1214Cys) c.3624G>T (p.Trp1208Cys) c.3561G>T (p.Trp1187Cys) | ClinVar dbSNP |
| 11 | g.47332244C= | CA1969333612 | MYBPC3 | c.3642G= (p.Trp1214=) c.3624G= (p.Trp1208=) c.3561G= (p.Trp1187=) | |
| 11 | g.47332244C>G | CA380311898 | MYBPC3 | c.3642G>C (p.Trp1214Cys) c.3624G>C (p.Trp1208Cys) c.3561G>C (p.Trp1187Cys) | |
| 11 | g.47332244C>T | CA014549 | MYBPC3 | c.3642G>A (p.Trp1214Ter) c.3624G>A (p.Trp1208Ter) c.3561G>A (p.Trp1187Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332245C>A | CA380311911 | MYBPC3 | c.3641G>T (p.Trp1214Leu) c.3623G>T (p.Trp1208Leu) c.3560G>T (p.Trp1187Leu) | |
| 11 | g.47332245C= | CA1969333621 | MYBPC3 | c.3641G= (p.Trp1214=) c.3623G= (p.Trp1208=) c.3560G= (p.Trp1187=) | |
| 11 | g.47332245C>G | CA380311913 | MYBPC3 | c.3641G>C (p.Trp1214Ser) c.3623G>C (p.Trp1208Ser) c.3560G>C (p.Trp1187Ser) | ClinVar |
| 11 | g.47332245C>T | CA014541 | MYBPC3 | c.3641G>A (p.Trp1214Ter) c.3623G>A (p.Trp1208Ter) c.3560G>A (p.Trp1187Ter) | ClinVar dbSNP |
| 11 | g.47332246A>C | CA380311920 | MYBPC3 | c.3640T>G (p.Trp1214Gly) c.3622T>G (p.Trp1208Gly) c.3559T>G (p.Trp1187Gly) | |
| 11 | g.47332246A>G | CA380311923 | MYBPC3 | c.3640T>C (p.Trp1214Arg) c.3622T>C (p.Trp1208Arg) c.3559T>C (p.Trp1187Arg) | |
| 11 | g.47332246A>T | CA380311926 | MYBPC3 | c.3640T>A (p.Trp1214Arg) c.3622T>A (p.Trp1208Arg) c.3559T>A (p.Trp1187Arg) | |
| 11 | g.47332247G>A | CA474428920 | MYBPC3 | c.3639C>T (p.Ser1213=) c.3621C>T (p.Ser1207=) c.3558C>T (p.Ser1186=) | ClinVar gnomAD v4 |
| 11 | g.47332247G>C | CA474428921 | MYBPC3 | c.3639C>G (p.Ser1213=) c.3621C>G (p.Ser1207=) c.3558C>G (p.Ser1186=) | |
| 11 | g.47332247G>T | CA474428922 | MYBPC3 | c.3639C>A (p.Ser1213=) c.3621C>A (p.Ser1207=) c.3558C>A (p.Ser1186=) | |
| 11 | g.47332248G>A | CA221681882 | MYBPC3 | c.3638C>T (p.Ser1213Phe) c.3620C>T (p.Ser1207Phe) c.3557C>T (p.Ser1186Phe) | dbSNP |
| 11 | g.47332248G>C | CA380311937 | MYBPC3 | c.3638C>G (p.Ser1213Cys) c.3620C>G (p.Ser1207Cys) c.3557C>G (p.Ser1186Cys) | |
| 11 | g.47332248G= | CA1969333625 | MYBPC3 | c.3638C= (p.Ser1213=) c.3620C= (p.Ser1207=) c.3557C= (p.Ser1186=) | |
| 11 | g.47332248G>T | CA380311940 | MYBPC3 | c.3638C>A (p.Ser1213Tyr) c.3620C>A (p.Ser1207Tyr) c.3557C>A (p.Ser1186Tyr) | |
| 11 | g.47332249A>C | CA380311944 | MYBPC3 | c.3637T>G (p.Ser1213Ala) c.3619T>G (p.Ser1207Ala) c.3556T>G (p.Ser1186Ala) | |
| 11 | g.47332249A>G | CA380311954 | MYBPC3 | c.3637T>C (p.Ser1213Pro) c.3619T>C (p.Ser1207Pro) c.3556T>C (p.Ser1186Pro) | |
| 11 | g.47332249A>T | CA380311951 | MYBPC3 | c.3637T>A (p.Ser1213Thr) c.3619T>A (p.Ser1207Thr) c.3556T>A (p.Ser1186Thr) | |
| 11 | g.47332250A>C | CA380311958 | MYBPC3 | c.3636T>G (p.Ile1212Met) c.3618T>G (p.Ile1206Met) c.3555T>G (p.Ile1185Met) | |
| 11 | g.47332250A>G | CA474428923 | MYBPC3 | c.3636T>C (p.Ile1212=) c.3618T>C (p.Ile1206=) c.3555T>C (p.Ile1185=) | |
| 11 | g.47332250A>T | CA474428924 | MYBPC3 | c.3636T>A (p.Ile1212=) c.3618T>A (p.Ile1206=) c.3555T>A (p.Ile1185=) | |
| 11 | g.47332251A>C | CA380311965 | MYBPC3 | c.3635T>G (p.Ile1212Ser) c.3617T>G (p.Ile1206Ser) c.3554T>G (p.Ile1185Ser) | |
| 11 | g.47332251A>G | CA380311969 | MYBPC3 | c.3635T>C (p.Ile1212Thr) c.3617T>C (p.Ile1206Thr) c.3554T>C (p.Ile1185Thr) | |
| 11 | g.47332251A>T | CA380311973 | MYBPC3 | c.3635T>A (p.Ile1212Asn) c.3617T>A (p.Ile1206Asn) c.3554T>A (p.Ile1185Asn) | |
| 11 | g.47332252T>A | CA380311974 | MYBPC3 | c.3634A>T (p.Ile1212Phe) c.3616A>T (p.Ile1206Phe) c.3553A>T (p.Ile1185Phe) | gnomAD v4 |
| 11 | g.47332252T>C | CA380311978 | MYBPC3 | c.3634A>G (p.Ile1212Val) c.3616A>G (p.Ile1206Val) c.3553A>G (p.Ile1185Val) | |
| 11 | g.47332252T>G | CA380311975 | MYBPC3 | c.3634A>C (p.Ile1212Leu) c.3616A>C (p.Ile1206Leu) c.3553A>C (p.Ile1185Leu) | |
| 11 | g.47332253C>A | CA380311981 | MYBPC3 | c.3633G>T (p.Lys1211Asn) c.3615G>T (p.Lys1205Asn) c.3552G>T (p.Lys1184Asn) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332253C= | CA1969333628 | MYBPC3 | c.3633G= (p.Lys1211=) c.3615G= (p.Lys1205=) c.3552G= (p.Lys1184=) | |
| 11 | g.47332253C>G | CA380311996 | MYBPC3 | c.3633G>C (p.Lys1211Asn) c.3615G>C (p.Lys1205Asn) c.3552G>C (p.Lys1184Asn) | |
| 11 | g.47332253C>T | CA474428925 | MYBPC3 | c.3633G>A (p.Lys1211=) c.3615G>A (p.Lys1205=) c.3552G>A (p.Lys1184=) | |
| 11 | g.47332254T>A | CA380312003 | MYBPC3 | c.3632A>T (p.Lys1211Met) c.3614A>T (p.Lys1205Met) c.3551A>T (p.Lys1184Met) | |
| 11 | g.47332254T>C | CA380312009 | MYBPC3 | c.3632A>G (p.Lys1211Arg) c.3614A>G (p.Lys1205Arg) c.3551A>G (p.Lys1184Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47332254T>G | CA380312011 | MYBPC3 | c.3632A>C (p.Lys1211Thr) c.3614A>C (p.Lys1205Thr) c.3551A>C (p.Lys1184Thr) | |
| 11 | g.47332254T= | CA1969333632 | MYBPC3 | c.3632A= (p.Lys1211=) c.3614A= (p.Lys1205=) c.3551A= (p.Lys1184=) |