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.47332563_47332564delinsTA | CA1969334003 | MYBPC3 | c.3627+2_3627+3delinsTA (n.3627+2_3627+3delinsTA) c.3609+2_3609+3delinsTA (n.3609+2_3609+3delinsTA) c.3546+2_3546+3delinsTA (n.3546+2_3546+3delinsTA) | |
11 | g.47332564del | CA658797619 | MYBPC3 | c.3627+2del (n.3627+2del) c.3609+2del (n.3609+2del) c.3546+2del (n.3546+2del) | ClinVar dbSNP |
11 | g.47332564A= | CA1969334014 | MYBPC3 | c.3627+2T= (n.3627+2T=) c.3609+2T= (n.3609+2T=) c.3546+2T= (n.3546+2T=) | |
11 | g.47332564A>C | CA380312126 | MYBPC3 | c.3627+2T>G (n.3627+2T>G) c.3609+2T>G (n.3609+2T>G) c.3546+2T>G (n.3546+2T>G) | ClinVar dbSNP |
11 | g.47332564A>G | CA380312131 | MYBPC3 | c.3627+2T>C (n.3627+2T>C) c.3609+2T>C (n.3609+2T>C) c.3546+2T>C (n.3546+2T>C) | ClinVar dbSNP |
11 | g.47332564A>T | CA380312133 | MYBPC3 | c.3627+2T>A (n.3627+2T>A) c.3609+2T>A (n.3609+2T>A) c.3546+2T>A (n.3546+2T>A) | dbSNP gnomAD v2 |
11 | g.47332565C>A | CA380312136 | MYBPC3 | c.3627+1G>T (n.3627+1G>T) c.3609+1G>T (n.3609+1G>T) c.3546+1G>T (n.3546+1G>T) | gnomAD v4 |
11 | g.47332565C= | CA1969334021 | MYBPC3 | c.3627+1G= (n.3627+1G=) c.3609+1G= (n.3609+1G=) c.3546+1G= (n.3546+1G=) | |
11 | g.47332565C>G | CA380312137 | MYBPC3 | c.3627+1G>C (n.3627+1G>C) c.3609+1G>C (n.3609+1G>C) c.3546+1G>C (n.3546+1G>C) | dbSNP |
11 | g.47332565C>T | CA014514 | MYBPC3 | c.3627+1G>A (n.3627+1G>A) c.3609+1G>A (n.3609+1G>A) c.3546+1G>A (n.3546+1G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.47332566C>A | CA380312148 | MYBPC3 | c.3627G>T (p.Lys1209Asn) c.3609G>T (p.Lys1203Asn) c.3546G>T (p.Lys1182Asn) | |
11 | g.47332566C= | CA1969334027 | MYBPC3 | c.3627G= (p.Lys1209=) c.3609G= (p.Lys1203=) c.3546G= (p.Lys1182=) | |
11 | g.47332566C>G | CA380312144 | MYBPC3 | c.3627G>C (p.Lys1209Asn) c.3609G>C (p.Lys1203Asn) c.3546G>C (p.Lys1182Asn) | |
11 | g.47332566C>T | CA474428880 | MYBPC3 | c.3627G>A (p.Lys1209=) c.3609G>A (p.Lys1203=) c.3546G>A (p.Lys1182=) | ClinVar dbSNP |
11 | g.47332567T>A | CA380312151 | MYBPC3 | c.3626A>T (p.Lys1209Met) c.3608A>T (p.Lys1203Met) c.3545A>T (p.Lys1182Met) | |
11 | g.47332567T>C | CA380312160 | MYBPC3 | c.3626A>G (p.Lys1209Arg) c.3608A>G (p.Lys1203Arg) c.3545A>G (p.Lys1182Arg) | dbSNP |
11 | g.47332567T>G | CA380312161 | MYBPC3 | c.3626A>C (p.Lys1209Thr) c.3608A>C (p.Lys1203Thr) c.3545A>C (p.Lys1182Thr) | |
11 | g.47332567T= | CA1969334033 | MYBPC3 | c.3626A= (p.Lys1209=) c.3608A= (p.Lys1203=) c.3545A= (p.Lys1182=) | |
11 | g.47332568T>A | CA380312164 | MYBPC3 | c.3625A>T (p.Lys1209Ter) c.3607A>T (p.Lys1203Ter) c.3544A>T (p.Lys1182Ter) | |
11 | g.47332568T>C | CA380312165 | MYBPC3 | c.3625A>G (p.Lys1209Glu) c.3607A>G (p.Lys1203Glu) c.3544A>G (p.Lys1182Glu) | |
11 | g.47332568T>G | CA380312167 | MYBPC3 | c.3625A>C (p.Lys1209Gln) c.3607A>C (p.Lys1203Gln) c.3544A>C (p.Lys1182Gln) | |
11 | g.47332568_47332569delinsTG | CA1969334034 | MYBPC3 | c.3624_3625delinsCA (p.Pro1208=) c.3606_3607delinsCA (p.Pro1202=) c.3543_3544delinsCA (p.Pro1181=) | |
11 | g.47332569G>A | CA474428884 | MYBPC3 | c.3624C>T (p.Pro1208=) c.3606C>T (p.Pro1202=) c.3543C>T (p.Pro1181=) | |
11 | g.47332569G>C | CA474428883 | MYBPC3 | c.3624C>G (p.Pro1208=) c.3606C>G (p.Pro1202=) c.3543C>G (p.Pro1181=) | |
11 | g.47332569G>T | CA474428882 | MYBPC3 | c.3624C>A (p.Pro1208=) c.3606C>A (p.Pro1202=) c.3543C>A (p.Pro1181=) | |
11 | g.47332572dup | CA014487 | MYBPC3 | c.3624dup (p.Lys1209GlnfsTer?) c.3606dup (p.Lys1203GlnfsTer?) c.3543dup (p.Lys1182GlnfsTer?) | ClinVar dbSNP |
11 | g.47332572del | CA014493 | MYBPC3 | c.3624del (p.Lys1209SerfsTer28) c.3606del (p.Lys1203SerfsTer28) c.3543del (p.Lys1182SerfsTer28) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332570G>A | CA380312178 | MYBPC3 | c.3623C>T (p.Pro1208Leu) c.3605C>T (p.Pro1202Leu) c.3542C>T (p.Pro1181Leu) | |
11 | g.47332570G>C | CA380312180 | MYBPC3 | c.3623C>G (p.Pro1208Arg) c.3605C>G (p.Pro1202Arg) c.3542C>G (p.Pro1181Arg) | ClinVar |
11 | g.47332570G>T | CA380312182 | MYBPC3 | c.3623C>A (p.Pro1208His) c.3605C>A (p.Pro1202His) c.3542C>A (p.Pro1181His) | |
11 | g.47332570_47332573dup | CA2573051241 | MYBPC3 | c.3620_3623dup (p.Lys1209ProfsTer?) c.3602_3605dup (p.Lys1203ProfsTer?) c.3539_3542dup (p.Lys1182ProfsTer?) | |
11 | g.47332571G>A | CA380312186 | MYBPC3 | c.3622C>T (p.Pro1208Ser) c.3604C>T (p.Pro1202Ser) c.3541C>T (p.Pro1181Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.47332571G>C | CA380312189 | MYBPC3 | c.3622C>G (p.Pro1208Ala) c.3604C>G (p.Pro1202Ala) c.3541C>G (p.Pro1181Ala) | ClinVar |
11 | g.47332571G>T | CA380312194 | MYBPC3 | c.3622C>A (p.Pro1208Thr) c.3604C>A (p.Pro1202Thr) c.3541C>A (p.Pro1181Thr) | |
11 | g.47332572G>A | CA474428888 | MYBPC3 | c.3621C>T (p.Ser1207=) c.3603C>T (p.Ser1201=) c.3540C>T (p.Ser1180=) | gnomAD v4 |
11 | g.47332572G>C | CA380312198 | MYBPC3 | c.3621C>G (p.Ser1207Arg) c.3603C>G (p.Ser1201Arg) c.3540C>G (p.Ser1180Arg) | |
11 | g.47332572G>T | CA380312201 | MYBPC3 | c.3621C>A (p.Ser1207Arg) c.3603C>A (p.Ser1201Arg) c.3540C>A (p.Ser1180Arg) | |
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=) |