Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47330388_47335387del | CA2740090117 | |||
11 | g.47332128_47332145dup | CA014796 | MYBPC3 | c.3742_3759dup (p.Cys1253_Arg1254insGlyGlyIleTyrValCys) c.3724_3741dup (p.Cys1247_Arg1248insGlyGlyIleTyrValCys) c.3661_3678dup (p.Cys1226_Arg1227insGlyGlyIleTyrValCys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332128_47332145del | CA2695213894 | MYBPC3 | c.3742_3759del (p.Gly1248_Cys1253del) c.3724_3741del (p.Gly1242_Cys1247del) c.3661_3678del (p.Gly1221_Cys1226del) | |
11 | g.47332145G>A | CA014720 | MYBPC3 | c.3741C>T (p.Asp1247=) c.3723C>T (p.Asp1241=) c.3660C>T (p.Asp1220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332145G>C | CA380310976 | MYBPC3 | c.3741C>G (p.Asp1247Glu) c.3723C>G (p.Asp1241Glu) c.3660C>G (p.Asp1220Glu) | |
11 | g.47332145G= | CA1969333400 | MYBPC3 | c.3741C= (p.Asp1247=) c.3723C= (p.Asp1241=) c.3660C= (p.Asp1220=) | |
11 | g.47332145G>T | CA380310979 | MYBPC3 | c.3741C>A (p.Asp1247Glu) c.3723C>A (p.Asp1241Glu) c.3660C>A (p.Asp1220Glu) | |
11 | g.47332146T>A | CA380310989 | MYBPC3 | c.3740A>T (p.Asp1247Val) c.3722A>T (p.Asp1241Val) c.3659A>T (p.Asp1220Val) | |
11 | g.47332146T>C | CA380310981 | MYBPC3 | c.3740A>G (p.Asp1247Gly) c.3722A>G (p.Asp1241Gly) c.3659A>G (p.Asp1220Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332146T>G | CA380310986 | MYBPC3 | c.3740A>C (p.Asp1247Ala) c.3722A>C (p.Asp1241Ala) c.3659A>C (p.Asp1220Ala) | |
11 | g.47332146T= | CA1969333403 | MYBPC3 | c.3740A= (p.Asp1247=) c.3722A= (p.Asp1241=) c.3659A= (p.Asp1220=) | |
11 | g.47332147C>A | CA380310995 | MYBPC3 | c.3739G>T (p.Asp1247Tyr) c.3721G>T (p.Asp1241Tyr) c.3658G>T (p.Asp1220Tyr) | ClinVar |
11 | g.47332147C= | CA1969333405 | MYBPC3 | c.3739G= (p.Asp1247=) c.3721G= (p.Asp1241=) c.3658G= (p.Asp1220=) | |
11 | g.47332147C>G | CA380310999 | MYBPC3 | c.3739G>C (p.Asp1247His) c.3721G>C (p.Asp1241His) c.3658G>C (p.Asp1220His) | gnomAD v4 |
11 | g.47332147C>T | CA054809 | MYBPC3 | c.3739G>A (p.Asp1247Asn) c.3721G>A (p.Asp1241Asn) c.3658G>A (p.Asp1220Asn) | ClinVar dbSNP gnomAD v4 |
11 | g.47332148A>C | CA380311016 | MYBPC3 | c.3738T>G (p.Phe1246Leu) c.3720T>G (p.Phe1240Leu) c.3657T>G (p.Phe1219Leu) | |
11 | g.47332148A>G | CA474428850 | MYBPC3 | c.3738T>C (p.Phe1246=) c.3720T>C (p.Phe1240=) c.3657T>C (p.Phe1219=) | |
11 | g.47332148A>T | CA380311036 | MYBPC3 | c.3738T>A (p.Phe1246Leu) c.3720T>A (p.Phe1240Leu) c.3657T>A (p.Phe1219Leu) | |
11 | g.47332149A= | CA1969333407 | MYBPC3 | c.3737T= (p.Phe1246=) c.3719T= (p.Phe1240=) c.3656T= (p.Phe1219=) | |
11 | g.47332149A>C | CA380311050 | MYBPC3 | c.3737T>G (p.Phe1246Cys) c.3719T>G (p.Phe1240Cys) c.3656T>G (p.Phe1219Cys) | |
11 | g.47332149A>G | CA014703 | MYBPC3 | c.3737T>C (p.Phe1246Ser) c.3719T>C (p.Phe1240Ser) c.3656T>C (p.Phe1219Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.47332149A>T | CA380311044 | MYBPC3 | c.3737T>A (p.Phe1246Tyr) c.3719T>A (p.Phe1240Tyr) c.3656T>A (p.Phe1219Tyr) | dbSNP |
11 | g.47332150A>C | CA380311053 | MYBPC3 | c.3736T>G (p.Phe1246Val) c.3718T>G (p.Phe1240Val) c.3655T>G (p.Phe1219Val) | COSMIC COSMIC |
11 | g.47332150A>G | CA380311055 | MYBPC3 | c.3736T>C (p.Phe1246Leu) c.3718T>C (p.Phe1240Leu) c.3655T>C (p.Phe1219Leu) | |
11 | g.47332150A>T | CA380311058 | MYBPC3 | c.3736T>A (p.Phe1246Ile) c.3718T>A (p.Phe1240Ile) c.3655T>A (p.Phe1219Ile) | |
11 | g.47332150_47332151delinsAG | CA1969333409 | MYBPC3 | c.3735_3736delinsCT (p.Pro1245=) c.3717_3718delinsCT (p.Pro1239=) c.3654_3655delinsCT (p.Pro1218=) | |
11 | g.47332151G>A | CA474428851 | MYBPC3 | c.3735C>T (p.Pro1245=) c.3717C>T (p.Pro1239=) c.3654C>T (p.Pro1218=) | ClinVar gnomAD v4 |
11 | g.47332151G>C | CA474428852 | MYBPC3 | c.3735C>G (p.Pro1245=) c.3717C>G (p.Pro1239=) c.3654C>G (p.Pro1218=) | |
11 | g.47332151G>T | CA474428853 | MYBPC3 | c.3735C>A (p.Pro1245=) c.3717C>A (p.Pro1239=) c.3654C>A (p.Pro1218=) | |
11 | g.47332154del | CA014698 | MYBPC3 | c.3735del (p.Phe1246LeufsTer?) c.3717del (p.Phe1240LeufsTer?) c.3654del (p.Phe1219LeufsTer?) | ClinVar dbSNP |
11 | g.47332152G>A | CA380311066 | MYBPC3 | c.3734C>T (p.Pro1245Leu) c.3716C>T (p.Pro1239Leu) c.3653C>T (p.Pro1218Leu) | ClinVar |
11 | g.47332152G>C | CA380311067 | MYBPC3 | c.3734C>G (p.Pro1245Arg) c.3716C>G (p.Pro1239Arg) c.3653C>G (p.Pro1218Arg) | |
11 | g.47332152G>T | CA380311069 | MYBPC3 | c.3734C>A (p.Pro1245His) c.3716C>A (p.Pro1239His) c.3653C>A (p.Pro1218His) | |
11 | g.47332153G>A | CA380311071 | MYBPC3 | c.3733C>T (p.Pro1245Ser) c.3715C>T (p.Pro1239Ser) c.3652C>T (p.Pro1218Ser) | |
11 | g.47332153G>C | CA380311074 | MYBPC3 | c.3733C>G (p.Pro1245Ala) c.3715C>G (p.Pro1239Ala) c.3652C>G (p.Pro1218Ala) | |
11 | g.47332153G= | CA1969333411 | MYBPC3 | c.3733C= (p.Pro1245=) c.3715C= (p.Pro1239=) c.3652C= (p.Pro1218=) | |
11 | g.47332153G>T | CA221681784 | MYBPC3 | c.3733C>A (p.Pro1245Thr) c.3715C>A (p.Pro1239Thr) c.3652C>A (p.Pro1218Thr) | 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=) |