Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47330388_47335387del | CA2740090117 | |||
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.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 |