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.47332570_47332573dup | CA2573051241 | MYBPC3 | c.3620_3623dup (p.Lys1209ProfsTer?) c.3602_3605dup (p.Lys1203ProfsTer?) c.3539_3542dup (p.Lys1182ProfsTer?) | |
11 | g.47332572_47332573delinsGC | CA1969334044 | MYBPC3 | c.3620_3621delinsGC (p.Ser1207=) c.3602_3603delinsGC (p.Ser1201=) c.3539_3540delinsGC (p.Ser1180=) | |
11 | g.47332573del | CA1139659385 | MYBPC3 | c.3620del (p.Ser1207ThrfsTer30) c.3602del (p.Ser1201ThrfsTer30) c.3539del (p.Ser1180ThrfsTer30) | ClinVar dbSNP |
11 | g.47332573C>A | CA079451 | MYBPC3 | c.3620G>T (p.Ser1207Ile) c.3602G>T (p.Ser1201Ile) c.3539G>T (p.Ser1180Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332573C= | CA1969334050 | MYBPC3 | c.3620G= (p.Ser1207=) c.3602G= (p.Ser1201=) c.3539G= (p.Ser1180=) | |
11 | g.47332573C>G | CA380312210 | MYBPC3 | c.3620G>C (p.Ser1207Thr) c.3602G>C (p.Ser1201Thr) c.3539G>C (p.Ser1180Thr) | |
11 | g.47332573C>T | CA380312207 | MYBPC3 | c.3620G>A (p.Ser1207Asn) c.3602G>A (p.Ser1201Asn) c.3539G>A (p.Ser1180Asn) | gnomAD v4 |
11 | g.47332574T>A | CA380312215 | MYBPC3 | c.3619A>T (p.Ser1207Cys) c.3601A>T (p.Ser1201Cys) c.3538A>T (p.Ser1180Cys) | |
11 | g.47332574T>C | CA380312221 | MYBPC3 | c.3619A>G (p.Ser1207Gly) c.3601A>G (p.Ser1201Gly) c.3538A>G (p.Ser1180Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332574T>G | CA380312218 | MYBPC3 | c.3619A>C (p.Ser1207Arg) c.3601A>C (p.Ser1201Arg) c.3538A>C (p.Ser1180Arg) | |
11 | g.47332574T= | CA1969334056 | MYBPC3 | c.3619A= (p.Ser1207=) c.3601A= (p.Ser1201=) c.3538A= (p.Ser1180=) | |
11 | g.47332575A>C | CA474428892 | MYBPC3 | c.3618T>G (p.Gly1206=) c.3600T>G (p.Gly1200=) c.3537T>G (p.Gly1179=) | |
11 | g.47332575A>G | CA474428893 | MYBPC3 | c.3618T>C (p.Gly1206=) c.3600T>C (p.Gly1200=) c.3537T>C (p.Gly1179=) | gnomAD v4 |
11 | g.47332575A>T | CA474428894 | MYBPC3 | c.3618T>A (p.Gly1206=) c.3600T>A (p.Gly1200=) c.3537T>A (p.Gly1179=) | gnomAD v4 |
11 | g.47332575_47332576del | CA2695213904 | MYBPC3 | c.3617_3618del (p.Gly1206GlufsTer?) c.3599_3600del (p.Gly1200GlufsTer?) c.3536_3537del (p.Gly1179GlufsTer?) | |
11 | g.47332575_47332576delinsAC | CA1969334059 | MYBPC3 | c.3617_3618delinsGT (p.Gly1206=) c.3599_3600delinsGT (p.Gly1200=) c.3536_3537delinsGT (p.Gly1179=) | |
11 | g.47332576C>A | CA054375 | MYBPC3 | c.3617G>T (p.Gly1206Val) c.3599G>T (p.Gly1200Val) c.3536G>T (p.Gly1179Val) | ClinVar dbSNP |
11 | g.47332576C= | CA1969334064 | MYBPC3 | c.3617G= (p.Gly1206=) c.3599G= (p.Gly1200=) c.3536G= (p.Gly1179=) | |
11 | g.47332576C>G | CA380312229 | MYBPC3 | c.3617G>C (p.Gly1206Ala) c.3599G>C (p.Gly1200Ala) c.3536G>C (p.Gly1179Ala) | |
11 | g.47332576C>T | CA16042795 | MYBPC3 | c.3617G>A (p.Gly1206Asp) c.3599G>A (p.Gly1200Asp) c.3536G>A (p.Gly1179Asp) | ClinVar dbSNP gnomAD v4 |
11 | g.47332576_47332577delinsTT | CA2580084194 | MYBPC3 | c.3616_3617delinsAA (p.Gly1206Asn) c.3598_3599delinsAA (p.Gly1200Asn) c.3535_3536delinsAA (p.Gly1179Asn) | ClinVar |
11 | g.47332579del | CA16613343 | MYBPC3 | c.3617del (p.Gly1206ValfsTer?) c.3599del (p.Gly1200ValfsTer?) c.3536del (p.Gly1179ValfsTer?) | ClinVar dbSNP |
11 | g.47332577C>A | CA380312232 | MYBPC3 | c.3616G>T (p.Gly1206Cys) c.3598G>T (p.Gly1200Cys) c.3535G>T (p.Gly1179Cys) | |
11 | g.47332577C>G | CA380312235 | MYBPC3 | c.3616G>C (p.Gly1206Arg) c.3598G>C (p.Gly1200Arg) c.3535G>C (p.Gly1179Arg) | |
11 | g.47332577C>T | CA380312237 | MYBPC3 | c.3616G>A (p.Gly1206Ser) c.3598G>A (p.Gly1200Ser) c.3535G>A (p.Gly1179Ser) | |
11 | g.47332578C>A | CA474428895 | MYBPC3 | c.3615G>T (p.Arg1205=) c.3597G>T (p.Arg1199=) c.3534G>T (p.Arg1178=) | dbSNP |
11 | g.47332578C= | CA1969334069 | MYBPC3 | c.3615G= (p.Arg1205=) c.3597G= (p.Arg1199=) c.3534G= (p.Arg1178=) | |
11 | g.47332578C>G | CA474428896 | MYBPC3 | c.3615G>C (p.Arg1205=) c.3597G>C (p.Arg1199=) c.3534G>C (p.Arg1178=) | ClinVar dbSNP gnomAD v4 |
11 | g.47332578C>T | CA079448 | MYBPC3 | c.3615G>A (p.Arg1205=) c.3597G>A (p.Arg1199=) c.3534G>A (p.Arg1178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
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=) |