| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47339608_47339609dup | CA2574816195 | MYBPC3 | c.2067+47_2067+48dup (n.2067+47_2067+48dup) c.2049+47_2049+48dup (n.2049+47_2049+48dup) | |
| 11 | g.47339608_47339609delinsAC | CA1969333341 | MYBPC3 | c.2067+42_2067+43delinsGT (n.2067+42_2067+43delinsGT) c.2049+42_2049+43delinsGT (n.2049+42_2049+43delinsGT) | |
| 11 | g.47339609C>A | CA221691034 | MYBPC3 | c.2067+42G>T (n.2067+42G>T) c.2049+42G>T (n.2049+42G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339609C= | CA1969333342 | MYBPC3 | c.2067+42G= (n.2067+42G=) c.2049+42G= (n.2049+42G=) | |
| 11 | g.47339609C>T | CA2613395203 | MYBPC3 | c.2067+42G>A (n.2067+42G>A) c.2049+42G>A (n.2049+42G>A) | gnomAD v4 |
| 11 | g.47339611del | CA676997199 | MYBPC3 | c.2067+42del (n.2067+42del) c.2049+42del (n.2049+42del) | dbSNP |
| 11 | g.47339610C>A | CA2613395206 | MYBPC3 | c.2067+41G>T (n.2067+41G>T) c.2049+41G>T (n.2049+41G>T) | gnomAD v4 |
| 11 | g.47339611C>A | CA2613395208 | MYBPC3 | c.2067+40G>T (n.2067+40G>T) c.2049+40G>T (n.2049+40G>T) | gnomAD v4 |
| 11 | g.47339611C>T | CA2613395209 | MYBPC3 | c.2067+40G>A (n.2067+40G>A) c.2049+40G>A (n.2049+40G>A) | gnomAD v4 |
| 11 | g.47339612A= | CA1969333343 | MYBPC3 | c.2067+39T= (n.2067+39T=) c.2049+39T= (n.2049+39T=) | |
| 11 | g.47339612A>G | CA221691042 | MYBPC3 | c.2067+39T>C (n.2067+39T>C) c.2049+39T>C (n.2049+39T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47339613T>A | CA078499 | MYBPC3 | c.2067+38A>T (n.2067+38A>T) c.2049+38A>T (n.2049+38A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339613T>C | CA2613395215 | MYBPC3 | c.2067+38A>G (n.2067+38A>G) c.2049+38A>G (n.2049+38A>G) | gnomAD v4 |
| 11 | g.47339613T= | CA1969333345 | MYBPC3 | c.2067+38A= (n.2067+38A=) c.2049+38A= (n.2049+38A=) | |
| 11 | g.47339613_47339614insA | CA221691047 | MYBPC3 | c.2067+37_2067+38insT (n.2067+37_2067+38insT) c.2049+37_2049+38insT (n.2049+37_2049+38insT) | dbSNP |
| 11 | g.47339614C>T | CA2613395220 | MYBPC3 | c.2067+37G>A (n.2067+37G>A) c.2049+37G>A (n.2049+37G>A) | gnomAD v4 |
| 11 | g.47339615T>G | CA2574816198 | MYBPC3 | c.2067+36A>C (n.2067+36A>C) c.2049+36A>C (n.2049+36A>C) | gnomAD v4 |
| 11 | g.47339616T>A | CA048053 | MYBPC3 | c.2067+35A>T (n.2067+35A>T) c.2049+35A>T (n.2049+35A>T) | |
| 11 | g.47339616T>C | CA2613395226 | MYBPC3 | c.2067+35A>G (n.2067+35A>G) c.2049+35A>G (n.2049+35A>G) | gnomAD v4 |
| 11 | g.47339617A>T | CA2596115246 | MYBPC3 | c.2067+34T>A (n.2067+34T>A) c.2049+34T>A (n.2049+34T>A) | gnomAD v3 gnomAD v4 |
| 11 | g.47339618T>C | CA599374373 | MYBPC3 | c.2067+33A>G (n.2067+33A>G) c.2049+33A>G (n.2049+33A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47339618T= | CA1969333347 | MYBPC3 | c.2067+33A= (n.2067+33A=) c.2049+33A= (n.2049+33A=) | |
| 11 | g.47339619dup | CA2574816199 | MYBPC3 | c.2067+32dup (n.2067+32dup) c.2049+32dup (n.2049+32dup) | |
| 11 | g.47339622T>C | CA937669907 | MYBPC3 | c.2067+29A>G (n.2067+29A>G) c.2049+29A>G (n.2049+29A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47339622T>G | CA599374374 | MYBPC3 | c.2067+29A>C (n.2067+29A>C) c.2049+29A>C (n.2049+29A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47339622T= | CA1969333349 | MYBPC3 | c.2067+29A= (n.2067+29A=) c.2049+29A= (n.2049+29A=) | |
| 11 | g.47339626dup | CA221691068 | MYBPC3 | c.2067+28dup (n.2067+28dup) c.2049+28dup (n.2049+28dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339624G>A | CA2574816200 | MYBPC3 | c.2067+27C>T (n.2067+27C>T) c.2049+27C>T (n.2049+27C>T) | |
| 11 | g.47339624G>T | CA2574816201 | MYBPC3 | c.2067+27C>A (n.2067+27C>A) c.2049+27C>A (n.2049+27C>A) | gnomAD v4 |
| 11 | g.47339625G>C | CA078497 | MYBPC3 | c.2067+26C>G (n.2067+26C>G) c.2049+26C>G (n.2049+26C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47339625G= | CA1969333351 | MYBPC3 | c.2067+26C= (n.2067+26C=) c.2049+26C= (n.2049+26C=) | |
| 11 | g.47339626G>A | CA599374375 | MYBPC3 | c.2067+25C>T (n.2067+25C>T) c.2049+25C>T (n.2049+25C>T) | dbSNP gnomAD v2 |
| 11 | g.47339626G= | CA1969333352 | MYBPC3 | c.2067+25C= (n.2067+25C=) c.2049+25C= (n.2049+25C=) | |
| 11 | g.47339628G>C | CA048045 | MYBPC3 | c.2067+23C>G (n.2067+23C>G) c.2049+23C>G (n.2049+23C>G) | dbSNP |
| 11 | g.47339628G= | CA1969333353 | MYBPC3 | c.2067+23C= (n.2067+23C=) c.2049+23C= (n.2049+23C=) | |
| 11 | g.47339630C>A | CA2613395244 | MYBPC3 | c.2067+21G>T (n.2067+21G>T) c.2049+21G>T (n.2049+21G>T) | gnomAD v4 |
| 11 | g.47339630C>T | CA2613395246 | MYBPC3 | c.2067+21G>A (n.2067+21G>A) c.2049+21G>A (n.2049+21G>A) | gnomAD v4 |
| 11 | g.47339631T>A | CA2613395248 | MYBPC3 | c.2067+20A>T (n.2067+20A>T) c.2049+20A>T (n.2049+20A>T) | gnomAD v4 |
| 11 | g.47339632G>C | CA599374376 | MYBPC3 | c.2067+19C>G (n.2067+19C>G) c.2049+19C>G (n.2049+19C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47339632G= | CA1969333354 | MYBPC3 | c.2067+19C= (n.2067+19C=) c.2049+19C= (n.2049+19C=) | |
| 11 | g.47339636A>G | CA2511473089 | MYBPC3 | c.2067+15T>C (n.2067+15T>C) c.2049+15T>C (n.2049+15T>C) | |
| 11 | g.47339637G>A | CA599374377 | MYBPC3 | c.2067+14C>T (n.2067+14C>T) c.2049+14C>T (n.2049+14C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47339637G>C | CA2613395292 | MYBPC3 | c.2067+14C>G (n.2067+14C>G) c.2049+14C>G (n.2049+14C>G) | gnomAD v4 |
| 11 | g.47339637G= | CA1969333356 | MYBPC3 | c.2067+14C= (n.2067+14C=) c.2049+14C= (n.2049+14C=) | |
| 11 | g.47339638G>A | CA2613395294 | MYBPC3 | c.2067+13C>T (n.2067+13C>T) c.2049+13C>T (n.2049+13C>T) | gnomAD v4 |
| 11 | g.47339639G>C | CA676997206 | MYBPC3 | c.2067+12C>G (n.2067+12C>G) c.2049+12C>G (n.2049+12C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47339639G= | CA1969333357 | MYBPC3 | c.2067+12C= (n.2067+12C=) c.2049+12C= (n.2049+12C=) | |
| 11 | g.47339639G>T | CA2613395296 | MYBPC3 | c.2067+12C>A (n.2067+12C>A) c.2049+12C>A (n.2049+12C>A) | gnomAD v4 |
| 11 | g.47339640_47339664del | CA2573051214 | MYBPC3 | c.2054_2067+11del c.2036_2049+11del | |
| 11 | g.47339641C>A | CA2613395299 | MYBPC3 | c.2067+10G>T (n.2067+10G>T) c.2049+10G>T (n.2049+10G>T) | gnomAD v4 |
| 11 | g.47339641C>T | CA2613395300 | MYBPC3 | c.2067+10G>A (n.2067+10G>A) c.2049+10G>A (n.2049+10G>A) | gnomAD v4 |
| 11 | g.47339643C>A | CA2613395303 | MYBPC3 | c.2067+8G>T (n.2067+8G>T) c.2049+8G>T (n.2049+8G>T) | gnomAD v4 |
| 11 | g.47339646A= | CA1969333358 | MYBPC3 | c.2067+5T= (n.2067+5T=) c.2049+5T= (n.2049+5T=) | |
| 11 | g.47339646A>C | CA078500 | MYBPC3 | c.2067+5T>G (n.2067+5T>G) c.2049+5T>G (n.2049+5T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339646A>G | CA2613395305 | MYBPC3 | c.2067+5T>C (n.2067+5T>C) c.2049+5T>C (n.2049+5T>C) | gnomAD v4 |
| 11 | g.47339647G>C | CA1969333360 | MYBPC3 | c.2067+4C>G (n.2067+4C>G) c.2049+4C>G (n.2049+4C>G) | ClinVar dbSNP |
| 11 | g.47339647G= | CA1969333359 | MYBPC3 | c.2067+4C= (n.2067+4C=) c.2049+4C= (n.2049+4C=) | |
| 11 | g.47339649del | CA2580084190 | MYBPC3 | c.2067+2del (n.2067+2del) c.2049+2del (n.2049+2del) | ClinVar |
| 11 | g.47339649A= | CA1969333362 | MYBPC3 | c.2067+2T= (n.2067+2T=) c.2049+2T= (n.2049+2T=) | |
| 11 | g.47339649A>C | CA048063 | MYBPC3 | c.2067+2T>G (n.2067+2T>G) c.2049+2T>G (n.2049+2T>G) | dbSNP |
| 11 | g.47339649A>G | CA380321273 | MYBPC3 | c.2067+2T>C (n.2067+2T>C) c.2049+2T>C (n.2049+2T>C) | |
| 11 | g.47339649A>T | CA380321276 | MYBPC3 | c.2067+2T>A (n.2067+2T>A) c.2049+2T>A (n.2049+2T>A) | |
| 11 | g.47339649_47339661delinsACCTGCGTGATAG | CA1969333363 | MYBPC3 | c.2057_2067+2delinsCTATCACGCAGGT c.2039_2049+2delinsCTATCACGCAGGT | |
| 11 | g.47339650C>A | CA380321280 | MYBPC3 | c.2067+1G>T (n.2067+1G>T) c.2049+1G>T (n.2049+1G>T) | |
| 11 | g.47339650C= | CA1969333365 | MYBPC3 | c.2067+1G= (n.2067+1G=) c.2049+1G= (n.2049+1G=) | |
| 11 | g.47339650C>G | CA380321283 | MYBPC3 | c.2067+1G>C (n.2067+1G>C) c.2049+1G>C (n.2049+1G>C) | |
| 11 | g.47339650C>T | CA380321286 | MYBPC3 | c.2067+1G>A (n.2067+1G>A) c.2049+1G>A (n.2049+1G>A) | ClinVar dbSNP |
| 11 | g.47339653_47339664del | CA599374378 | MYBPC3 | c.2057_2067+1del c.2039_2049+1del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339651C>A | CA380321287 | MYBPC3 | c.2067G>T (p.Gln689His) c.2049G>T (p.Gln683His) | ClinVar gnomAD v4 |
| 11 | g.47339651C>G | CA380321289 | MYBPC3 | c.2067G>C (p.Gln689His) c.2049G>C (p.Gln683His) | |
| 11 | g.47339651C>T | CA474217445 | MYBPC3 | c.2067G>A (p.Gln689=) c.2049G>A (p.Gln683=) | |
| 11 | g.47339652T>A | CA380321296 | MYBPC3 | c.2066A>T (p.Gln689Leu) c.2048A>T (p.Gln683Leu) | |
| 11 | g.47339652T>C | CA380321294 | MYBPC3 | c.2066A>G (p.Gln689Arg) c.2048A>G (p.Gln683Arg) | |
| 11 | g.47339652T>G | CA380321292 | MYBPC3 | c.2066A>C (p.Gln689Pro) c.2048A>C (p.Gln683Pro) | |
| 11 | g.47339653G>A | CA279293 | MYBPC3 | c.2065C>T (p.Gln689Ter) c.2047C>T (p.Gln683Ter) | ClinVar dbSNP |
| 11 | g.47339653G>C | CA380321299 | MYBPC3 | c.2065C>G (p.Gln689Glu) c.2047C>G (p.Gln683Glu) | |
| 11 | g.47339653G= | CA1969333366 | MYBPC3 | c.2065C= (p.Gln689=) c.2047C= (p.Gln683=) | |
| 11 | g.47339653G>T | CA380321301 | MYBPC3 | c.2065C>A (p.Gln689Lys) c.2047C>A (p.Gln683Lys) | |
| 11 | g.47339654C>A | CA474217452 | MYBPC3 | c.2064G>T (p.Thr688=) c.2046G>T (p.Thr682=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47339654C= | CA1969333370 | MYBPC3 | c.2064G= (p.Thr688=) c.2046G= (p.Thr682=) | |
| 11 | g.47339654C>G | CA474217454 | MYBPC3 | c.2064G>C (p.Thr688=) c.2046G>C (p.Thr682=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47339654C>T | CA078495 | MYBPC3 | c.2064G>A (p.Thr688=) c.2046G>A (p.Thr682=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339655del | CA2739270438 | MYBPC3 | c.2063del (p.Thr688SerfsTer?) c.2045del (p.Thr682SerfsTer?) | ClinVar |
| 11 | g.47339655G>A | CA221691095 | MYBPC3 | c.2063C>T (p.Thr688Met) c.2045C>T (p.Thr682Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47339655G>C | CA380321305 | MYBPC3 | c.2063C>G (p.Thr688Arg) c.2045C>G (p.Thr682Arg) | |
| 11 | g.47339655G= | CA1969333372 | MYBPC3 | c.2063C= (p.Thr688=) c.2045C= (p.Thr682=) | |
| 11 | g.47339655G>T | CA011701 | MYBPC3 | c.2063C>A (p.Thr688Lys) c.2045C>A (p.Thr682Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339656T>A | CA380321309 | MYBPC3 | c.2062A>T (p.Thr688Ser) c.2044A>T (p.Thr682Ser) | |
| 11 | g.47339656T>C | CA380321313 | MYBPC3 | c.2062A>G (p.Thr688Ala) c.2044A>G (p.Thr682Ala) | |
| 11 | g.47339656T>G | CA380321310 | MYBPC3 | c.2062A>C (p.Thr688Pro) c.2044A>C (p.Thr682Pro) | |
| 11 | g.47339656T= | CA1969333373 | MYBPC3 | c.2062A= (p.Thr688=) c.2044A= (p.Thr682=) | |
| 11 | g.47339657G>A | CA474217460 | MYBPC3 | c.2061C>T (p.Ile687=) c.2043C>T (p.Ile681=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.47339657G>C | CA048115 | MYBPC3 | c.2061C>G (p.Ile687Met) c.2043C>G (p.Ile681Met) | |
| 11 | g.47339657G= | CA1969333376 | MYBPC3 | c.2061C= (p.Ile687=) c.2043C= (p.Ile681=) | |
| 11 | g.47339657G>T | CA474217462 | MYBPC3 | c.2061C>A (p.Ile687=) c.2043C>A (p.Ile681=) | |
| 11 | g.47339658_47339661dup | CA913190275 | MYBPC3 | c.2058_2061dup (p.Thr688TyrfsTer6) c.2040_2043dup (p.Thr682TyrfsTer6) c.2058_2061dup (p.Thr688TyrfsTer7) | ClinVar dbSNP |
| 11 | g.47339658A>C | CA380321316 | MYBPC3 | c.2060T>G (p.Ile687Ser) c.2042T>G (p.Ile681Ser) | |
| 11 | g.47339658A>G | CA380321317 | MYBPC3 | c.2060T>C (p.Ile687Thr) c.2042T>C (p.Ile681Thr) | |
| 11 | g.47339658A>T | CA380321320 | MYBPC3 | c.2060T>A (p.Ile687Asn) c.2042T>A (p.Ile681Asn) | |
| 11 | g.47339659T>A | CA380321323 | MYBPC3 | c.2059A>T (p.Ile687Phe) c.2041A>T (p.Ile681Phe) | |
| 11 | g.47339659T>C | CA380321329 | MYBPC3 | c.2059A>G (p.Ile687Val) c.2041A>G (p.Ile681Val) | |
| 11 | g.47339659T>G | CA380321326 | MYBPC3 | c.2059A>C (p.Ile687Leu) c.2041A>C (p.Ile681Leu) | |
| 11 | g.47339659_47339660delinsTA | CA1969333379 | MYBPC3 | c.2058_2059delinsTA (p.Ala686=) c.2040_2041delinsTA (p.Ala680=) | |
| 11 | g.47339660del | CA16619339 | MYBPC3 | c.2058del (p.Ile687SerfsTer?) c.2040del (p.Ile681SerfsTer?) | ClinVar dbSNP |
| 11 | g.47339660A>C | CA474217467 | MYBPC3 | c.2058T>G (p.Ala686=) c.2040T>G (p.Ala680=) | |
| 11 | g.47339660A>G | CA474217469 | MYBPC3 | c.2058T>C (p.Ala686=) c.2040T>C (p.Ala680=) | |
| 11 | g.47339660A>T | CA474217471 | MYBPC3 | c.2058T>A (p.Ala686=) c.2040T>A (p.Ala680=) | ClinVar |
| 11 | g.47339661G>A | CA380321333 | MYBPC3 | c.2057C>T (p.Ala686Val) c.2039C>T (p.Ala680Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47339661G>C | CA380321335 | MYBPC3 | c.2057C>G (p.Ala686Gly) c.2039C>G (p.Ala680Gly) | |
| 11 | g.47339661G= | CA1969333381 | MYBPC3 | c.2057C= (p.Ala686=) c.2039C= (p.Ala680=) | |
| 11 | g.47339661G>T | CA380321337 | MYBPC3 | c.2057C>A (p.Ala686Asp) c.2039C>A (p.Ala680Asp) | |
| 11 | g.47339662C>A | CA380321341 | MYBPC3 | c.2056G>T (p.Ala686Ser) c.2038G>T (p.Ala680Ser) | gnomAD v4 |
| 11 | g.47339662C= | CA1969333382 | MYBPC3 | c.2056G= (p.Ala686=) c.2038G= (p.Ala680=) | |
| 11 | g.47339662C>G | CA078493 | MYBPC3 | c.2056G>C (p.Ala686Pro) c.2038G>C (p.Ala680Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339662C>T | CA078490 | MYBPC3 | c.2056G>A (p.Ala686Thr) c.2038G>A (p.Ala680Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47339663C>A | CA380321346 | MYBPC3 | c.2055G>T (p.Lys685Asn) c.2037G>T (p.Lys679Asn) | |
| 11 | g.47339663C>G | CA380321349 | MYBPC3 | c.2055G>C (p.Lys685Asn) c.2037G>C (p.Lys679Asn) | |
| 11 | g.47339663C>T | CA474217478 | MYBPC3 | c.2055G>A (p.Lys685=) c.2037G>A (p.Lys679=) | |
| 11 | g.47339664T>A | CA380321354 | MYBPC3 | c.2054A>T (p.Lys685Met) c.2036A>T (p.Lys679Met) | |
| 11 | g.47339664T>C | CA380321356 | MYBPC3 | c.2054A>G (p.Lys685Arg) c.2036A>G (p.Lys679Arg) | |
| 11 | g.47339664T>G | CA380321360 | MYBPC3 | c.2054A>C (p.Lys685Thr) c.2036A>C (p.Lys679Thr) | |
| 11 | g.47339665T>A | CA380321366 | MYBPC3 | c.2053A>T (p.Lys685Ter) c.2035A>T (p.Lys679Ter) | |
| 11 | g.47339665T>C | CA380321363 | MYBPC3 | c.2053A>G (p.Lys685Glu) c.2035A>G (p.Lys679Glu) | |
| 11 | g.47339665T>G | CA380321362 | MYBPC3 | c.2053A>C (p.Lys685Gln) c.2035A>C (p.Lys679Gln) | |
| 11 | g.47339666C>A | CA380321367 | MYBPC3 | c.2052G>T (p.Gln684His) c.2034G>T (p.Gln678His) | |
| 11 | g.47339666C= | CA1969333384 | MYBPC3 | c.2052G= (p.Gln684=) c.2034G= (p.Gln678=) | |
| 11 | g.47339666C>G | CA380321368 | MYBPC3 | c.2052G>C (p.Gln684His) c.2034G>C (p.Gln678His) | |
| 11 | g.47339666C>T | CA474217493 | MYBPC3 | c.2052G>A (p.Gln684=) c.2034G>A (p.Gln678=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47339667T>A | CA380321369 | MYBPC3 | c.2051A>T (p.Gln684Leu) c.2033A>T (p.Gln678Leu) | |
| 11 | g.47339667T>C | CA380321371 | MYBPC3 | c.2051A>G (p.Gln684Arg) c.2033A>G (p.Gln678Arg) | |
| 11 | g.47339667T>G | CA380321370 | MYBPC3 | c.2051A>C (p.Gln684Pro) c.2033A>C (p.Gln678Pro) | |
| 11 | g.47339668G>A | CA380321374 | MYBPC3 | c.2050C>T (p.Gln684Ter) c.2032C>T (p.Gln678Ter) | ClinVar gnomAD v4 |
| 11 | g.47339668G>C | CA380321378 | MYBPC3 | c.2050C>G (p.Gln684Glu) c.2032C>G (p.Gln678Glu) | |
| 11 | g.47339668G= | CA1969333386 | MYBPC3 | c.2050C= (p.Gln684=) c.2032C= (p.Gln678=) | |
| 11 | g.47339668G>T | CA380321375 | MYBPC3 | c.2050C>A (p.Gln684Lys) c.2032C>A (p.Gln678Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339669C>A | CA380321381 | MYBPC3 | c.2049G>T (p.Trp683Cys) c.2031G>T (p.Trp677Cys) | gnomAD v4 |
| 11 | g.47339669C>G | CA380321386 | MYBPC3 | c.2049G>C (p.Trp683Cys) c.2031G>C (p.Trp677Cys) | |
| 11 | g.47339669C>T | CA380321383 | MYBPC3 | c.2049G>A (p.Trp683Ter) c.2031G>A (p.Trp677Ter) | |
| 11 | g.47339670C>A | CA380321389 | MYBPC3 | c.2048G>T (p.Trp683Leu) c.2030G>T (p.Trp677Leu) | |
| 11 | g.47339670C= | CA1969333388 | MYBPC3 | c.2048G= (p.Trp683=) c.2030G= (p.Trp677=) | |
| 11 | g.47339670C>G | CA380321394 | MYBPC3 | c.2048G>C (p.Trp683Ser) c.2030G>C (p.Trp677Ser) | ClinVar dbSNP |
| 11 | g.47339670C>T | CA011693 | MYBPC3 | c.2048G>A (p.Trp683Ter) c.2030G>A (p.Trp677Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47339671del | CA2697548571 | MYBPC3 | c.2047del (p.Trp683GlyfsTer?) c.2029del (p.Trp677GlyfsTer?) | ClinVar |
| 11 | g.47339671A>C | CA380321398 | MYBPC3 | c.2047T>G (p.Trp683Gly) c.2029T>G (p.Trp677Gly) | |
| 11 | g.47339671A>G | CA380321404 | MYBPC3 | c.2047T>C (p.Trp683Arg) c.2029T>C (p.Trp677Arg) | |
| 11 | g.47339671A>T | CA380321400 | MYBPC3 | c.2047T>A (p.Trp683Arg) c.2029T>A (p.Trp677Arg) | ClinVar dbSNP |
| 11 | g.47339672G>A | CA048081 | MYBPC3 | c.2046C>T (p.Ile682=) c.2028C>T (p.Ile676=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47339672G>C | CA380321407 | MYBPC3 | c.2046C>G (p.Ile682Met) c.2028C>G (p.Ile676Met) | |
| 11 | g.47339672G= | CA1969333390 | MYBPC3 | c.2046C= (p.Ile682=) c.2028C= (p.Ile676=) | |
| 11 | g.47339672G>T | CA474217514 | MYBPC3 | c.2046C>A (p.Ile682=) c.2028C>A (p.Ile676=) | |
| 11 | g.47339673A>C | CA380321418 | MYBPC3 | c.2045T>G (p.Ile682Ser) c.2027T>G (p.Ile676Ser) | |
| 11 | g.47339673A>G | CA380321413 | MYBPC3 | c.2045T>C (p.Ile682Thr) c.2027T>C (p.Ile676Thr) | |
| 11 | g.47339673A>T | CA380321416 | MYBPC3 | c.2045T>A (p.Ile682Asn) c.2027T>A (p.Ile676Asn) | |
| 11 | g.47339674T>A | CA380321421 | MYBPC3 | c.2044A>T (p.Ile682Phe) c.2026A>T (p.Ile676Phe) | |
| 11 | g.47339674T>C | CA380321423 | MYBPC3 | c.2044A>G (p.Ile682Val) c.2026A>G (p.Ile676Val) | gnomAD v4 |
| 11 | g.47339674T>G | CA380321424 | MYBPC3 | c.2044A>C (p.Ile682Leu) c.2026A>C (p.Ile676Leu) | |
| 11 | g.47339675C>A | CA474217523 | MYBPC3 | c.2043G>T (p.Val681=) c.2025G>T (p.Val675=) | |
| 11 | g.47339675C= | CA1969333391 | MYBPC3 | c.2043G= (p.Val681=) c.2025G= (p.Val675=) | |
| 11 | g.47339675C>G | CA474217527 | MYBPC3 | c.2043G>C (p.Val681=) c.2025G>C (p.Val675=) | |
| 11 | g.47339675C>T | CA474217525 | MYBPC3 | c.2043G>A (p.Val681=) c.2025G>A (p.Val675=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47339676A>C | CA380321428 | MYBPC3 | c.2042T>G (p.Val681Gly) c.2024T>G (p.Val675Gly) | |
| 11 | g.47339676A>G | CA380321429 | MYBPC3 | c.2042T>C (p.Val681Ala) c.2024T>C (p.Val675Ala) | |
| 11 | g.47339676A>T | CA380321433 | MYBPC3 | c.2042T>A (p.Val681Glu) c.2024T>A (p.Val675Glu) | |
| 11 | g.47339677C>A | CA380321435 | MYBPC3 | c.2041G>T (p.Val681Leu) c.2023G>T (p.Val675Leu) | |
| 11 | g.47339677C= | CA1969333393 | MYBPC3 | c.2041G= (p.Val681=) c.2023G= (p.Val675=) | |
| 11 | g.47339677C>G | CA380321440 | MYBPC3 | c.2041G>C (p.Val681Leu) c.2023G>C (p.Val675Leu) | |
| 11 | g.47339677C>T | CA078488 | MYBPC3 | c.2041G>A (p.Val681Met) c.2023G>A (p.Val675Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47339678A>C | CA048096 | MYBPC3 | c.2040T>G (p.Thr680=) c.2022T>G (p.Thr674=) | |
| 11 | g.47339678A>G | CA474217538 | MYBPC3 | c.2040T>C (p.Thr680=) c.2022T>C (p.Thr674=) | ClinVar dbSNP |
| 11 | g.47339678A>T | CA474217541 | MYBPC3 | c.2040T>A (p.Thr680=) c.2022T>A (p.Thr674=) | |
| 11 | g.47339678dup | CA011684 | MYBPC3 | c.2040dup (p.Val681CysfsTer12) c.2022dup (p.Val675CysfsTer12) c.2040dup (p.Val681CysfsTer13) | ClinVar dbSNP |
| 11 | g.47339679G>A | CA380321446 | MYBPC3 | c.2039C>T (p.Thr680Ile) c.2021C>T (p.Thr674Ile) | ClinVar dbSNP |
| 11 | g.47339679G>C | CA380321448 | MYBPC3 | c.2039C>G (p.Thr680Ser) c.2021C>G (p.Thr674Ser) | |
| 11 | g.47339679G>T | CA380321451 | MYBPC3 | c.2039C>A (p.Thr680Asn) c.2021C>A (p.Thr674Asn) | |
| 11 | g.47339680T>A | CA380321454 | MYBPC3 | c.2038A>T (p.Thr680Ser) c.2020A>T (p.Thr674Ser) | |
| 11 | g.47339680T>C | CA380321458 | MYBPC3 | c.2038A>G (p.Thr680Ala) c.2020A>G (p.Thr674Ala) | |
| 11 | g.47339680T>G | CA380321456 | MYBPC3 | c.2038A>C (p.Thr680Pro) c.2020A>C (p.Thr674Pro) | |
| 11 | g.47339681G>A | CA474217561 | MYBPC3 | c.2037C>T (p.Pro679=) c.2019C>T (p.Pro673=) | |
| 11 | g.47339681G>C | CA474217563 | MYBPC3 | c.2037C>G (p.Pro679=) c.2019C>G (p.Pro673=) | |
| 11 | g.47339681G= | CA1969333394 | MYBPC3 | c.2037C= (p.Pro679=) c.2019C= (p.Pro673=) | |
| 11 | g.47339681G>T | CA078486 | MYBPC3 | c.2037C>A (p.Pro679=) c.2019C>A (p.Pro673=) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.47339682G>A | CA380321463 | MYBPC3 | c.2036C>T (p.Pro679Leu) c.2018C>T (p.Pro673Leu) | |
| 11 | g.47339682G>C | CA380321466 | MYBPC3 | c.2036C>G (p.Pro679Arg) c.2018C>G (p.Pro673Arg) | gnomAD v4 |
| 11 | g.47339682G>T | CA380321469 | MYBPC3 | c.2036C>A (p.Pro679His) c.2018C>A (p.Pro673His) | |
| 11 | g.47339683G>A | CA011676 | MYBPC3 | c.2035C>T (p.Pro679Ser) c.2017C>T (p.Pro673Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339683G>C | CA380321473 | MYBPC3 | c.2035C>G (p.Pro679Ala) c.2017C>G (p.Pro673Ala) | |
| 11 | g.47339683G= | CA1969333397 | MYBPC3 | c.2035C= (p.Pro679=) c.2017C= (p.Pro673=) | |
| 11 | g.47339683G>T | CA380321476 | MYBPC3 | c.2035C>A (p.Pro679Thr) c.2017C>A (p.Pro673Thr) | ClinVar dbSNP |
| 11 | g.47339684A= | CA1969333399 | MYBPC3 | c.2034T= (p.Ala678=) c.2016T= (p.Ala672=) | |
| 11 | g.47339684A>C | CA474217584 | MYBPC3 | c.2034T>G (p.Ala678=) c.2016T>G (p.Ala672=) | |
| 11 | g.47339684A>G | CA078484 | MYBPC3 | c.2034T>C (p.Ala678=) c.2016T>C (p.Ala672=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339684A>T | CA474217581 | MYBPC3 | c.2034T>A (p.Ala678=) c.2016T>A (p.Ala672=) | |
| 11 | g.47339685G>A | CA380321481 | MYBPC3 | c.2033C>T (p.Ala678Val) c.2015C>T (p.Ala672Val) | gnomAD v4 |
| 11 | g.47339685G>C | CA380321483 | MYBPC3 | c.2033C>G (p.Ala678Gly) c.2015C>G (p.Ala672Gly) | gnomAD v4 |
| 11 | g.47339685G= | CA1969333401 | MYBPC3 | c.2033C= (p.Ala678=) c.2015C= (p.Ala672=) | |
| 11 | g.47339685G>T | CA078482 | MYBPC3 | c.2033C>A (p.Ala678Asp) c.2015C>A (p.Ala672Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47339686C>A | CA380321487 | MYBPC3 | c.2032G>T (p.Ala678Ser) c.2014G>T (p.Ala672Ser) | |
| 11 | g.47339686C>G | CA380321493 | MYBPC3 | c.2032G>C (p.Ala678Pro) c.2014G>C (p.Ala672Pro) | |
| 11 | g.47339686C>T | CA380321490 | MYBPC3 | c.2032G>A (p.Ala678Thr) c.2014G>A (p.Ala672Thr) | ClinVar gnomAD v4 |
| 11 | g.47339689_47339697del | CA2573051234 | MYBPC3 | c.2024_2032del (p.Gly675_Pro677del) c.2006_2014del (p.Gly669_Pro671del) | |
| 11 | g.47339687A>C | CA474217594 | MYBPC3 | c.2031T>G (p.Pro677=) c.2013T>G (p.Pro671=) | |
| 11 | g.47339687A>G | CA047965 | MYBPC3 | c.2031T>C (p.Pro677=) c.2013T>C (p.Pro671=) | |
| 11 | g.47339687A>T | CA474217599 | MYBPC3 | c.2031T>A (p.Pro677=) c.2013T>A (p.Pro671=) | |
| 11 | g.47339688G>A | CA011667 | MYBPC3 | c.2030C>T (p.Pro677Leu) c.2012C>T (p.Pro671Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47339688G>C | CA380321497 | MYBPC3 | c.2030C>G (p.Pro677Arg) c.2012C>G (p.Pro671Arg) | |
| 11 | g.47339688G= | CA1969333402 | MYBPC3 | c.2030C= (p.Pro677=) c.2012C= (p.Pro671=) | |
| 11 | g.47339688G>T | CA047956 | MYBPC3 | c.2030C>A (p.Pro677His) c.2012C>A (p.Pro671His) | |
| 11 | g.47339689G>A | CA221691171 | MYBPC3 | c.2029C>T (p.Pro677Ser) c.2011C>T (p.Pro671Ser) | ClinVar dbSNP |
| 11 | g.47339689G>C | CA380321503 | MYBPC3 | c.2029C>G (p.Pro677Ala) c.2011C>G (p.Pro671Ala) | |
| 11 | g.47339689G= | CA1969333404 | MYBPC3 | c.2029C= (p.Pro677=) c.2011C= (p.Pro671=) | |
| 11 | g.47339689G>T | CA380321506 | MYBPC3 | c.2029C>A (p.Pro677Thr) c.2011C>A (p.Pro671Thr) | |
| 11 | g.47339690G>A | CA474217609 | MYBPC3 | c.2028C>T (p.Asp676=) c.2010C>T (p.Asp670=) | |
| 11 | g.47339690G>C | CA380321509 | MYBPC3 | c.2028C>G (p.Asp676Glu) c.2010C>G (p.Asp670Glu) | |
| 11 | g.47339690G>T | CA380321512 | MYBPC3 | c.2028C>A (p.Asp676Glu) c.2010C>A (p.Asp670Glu) | |
| 11 | g.47339691T>A | CA380321515 | MYBPC3 | c.2027A>T (p.Asp676Val) c.2009A>T (p.Asp670Val) | ClinVar gnomAD v4 |
| 11 | g.47339691T>C | CA380321519 | MYBPC3 | c.2027A>G (p.Asp676Gly) c.2009A>G (p.Asp670Gly) | |
| 11 | g.47339691T>G | CA380321521 | MYBPC3 | c.2027A>C (p.Asp676Ala) c.2009A>C (p.Asp670Ala) | gnomAD v4 |
| 11 | g.47339692C>A | CA221691177 | MYBPC3 | c.2026G>T (p.Asp676Tyr) c.2008G>T (p.Asp670Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47339692C= | CA1969333406 | MYBPC3 | c.2026G= (p.Asp676=) c.2008G= (p.Asp670=) | |
| 11 | g.47339692C>G | CA380321527 | MYBPC3 | c.2026G>C (p.Asp676His) c.2008G>C (p.Asp670His) | |
| 11 | g.47339692C>T | CA380321524 | MYBPC3 | c.2026G>A (p.Asp676Asn) c.2008G>A (p.Asp670Asn) | |
| 11 | g.47339695dup | CA2724175940 | MYBPC3 | c.2026dup (p.Asp676GlyfsTer17) c.2008dup (p.Asp670GlyfsTer17) c.2026dup (p.Asp676GlyfsTer18) | dbSNP |
| 11 | g.47339694_47339695del | CA2573051153 | MYBPC3 | c.2025_2026del (p.Asp676ProfsTer16) c.2007_2008del (p.Asp670ProfsTer16) c.2025_2026del (p.Asp676ProfsTer17) | |
| 11 | g.47339693C>A | CA474217623 | MYBPC3 | c.2025G>T (p.Gly675=) c.2007G>T (p.Gly669=) | |
| 11 | g.47339693C= | CA1969333408 | MYBPC3 | c.2025G= (p.Gly675=) c.2007G= (p.Gly669=) | |
| 11 | g.47339693C>G | CA474217625 | MYBPC3 | c.2025G>C (p.Gly675=) c.2007G>C (p.Gly669=) | ClinVar dbSNP |
| 11 | g.47339693C>T | CA474217626 | MYBPC3 | c.2025G>A (p.Gly675=) c.2007G>A (p.Gly669=) | |
| 11 | g.47339694C>A | CA380321532 | MYBPC3 | c.2024G>T (p.Gly675Val) c.2006G>T (p.Gly669Val) | |
| 11 | g.47339694C>G | CA380321535 | MYBPC3 | c.2024G>C (p.Gly675Ala) c.2006G>C (p.Gly669Ala) | |
| 11 | g.47339694C>T | CA380321537 | MYBPC3 | c.2024G>A (p.Gly675Glu) c.2006G>A (p.Gly669Glu) | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.47339695C>A | CA380321538 | MYBPC3 | c.2023G>T (p.Gly675Trp) c.2005G>T (p.Gly669Trp) | |
| 11 | g.47339695C>G | CA380321539 | MYBPC3 | c.2023G>C (p.Gly675Arg) c.2005G>C (p.Gly669Arg) | |
| 11 | g.47339695C>T | CA380321540 | MYBPC3 | c.2023G>A (p.Gly675Arg) c.2005G>A (p.Gly669Arg) | ClinVar |
| 11 | g.47339696A>C | CA474217637 | MYBPC3 | c.2022T>G (p.Ser674=) c.2004T>G (p.Ser668=) | |
| 11 | g.47339696A>G | CA474217639 | MYBPC3 | c.2022T>C (p.Ser674=) c.2004T>C (p.Ser668=) | gnomAD v4 |
| 11 | g.47339696A>T | CA474217638 | MYBPC3 | c.2022T>A (p.Ser674=) c.2004T>A (p.Ser668=) | |
| 11 | g.47339697G>A | CA380321541 | MYBPC3 | c.2021C>T (p.Ser674Phe) c.2003C>T (p.Ser668Phe) | |
| 11 | g.47339697G>C | CA380321542 | MYBPC3 | c.2021C>G (p.Ser674Cys) c.2003C>G (p.Ser668Cys) | ClinVar dbSNP |
| 11 | g.47339697G= | CA1969333410 | MYBPC3 | c.2021C= (p.Ser674=) c.2003C= (p.Ser668=) | |
| 11 | g.47339697G>T | CA380321543 | MYBPC3 | c.2021C>A (p.Ser674Tyr) c.2003C>A (p.Ser668Tyr) | |
| 11 | g.47339698A>C | CA380321544 | MYBPC3 | c.2020T>G (p.Ser674Ala) c.2002T>G (p.Ser668Ala) | |
| 11 | g.47339698A>G | CA380321546 | MYBPC3 | c.2020T>C (p.Ser674Pro) c.2002T>C (p.Ser668Pro) | |
| 11 | g.47339698A>T | CA380321549 | MYBPC3 | c.2020T>A (p.Ser674Thr) c.2002T>A (p.Ser668Thr) | |
| 11 | g.47339699G>A | CA078479 | MYBPC3 | c.2019C>T (p.Ile673=) c.2001C>T (p.Ile667=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339699G>C | CA221691182 | MYBPC3 | c.2019C>G (p.Ile673Met) c.2001C>G (p.Ile667Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339699G= | CA1969333412 | MYBPC3 | c.2019C= (p.Ile673=) c.2001C= (p.Ile667=) | |
| 11 | g.47339699G>T | CA474217642 | MYBPC3 | c.2019C>A (p.Ile673=) c.2001C>A (p.Ile667=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47339700A= | CA1969333414 | MYBPC3 | c.2018T= (p.Ile673=) c.2000T= (p.Ile667=) | |
| 11 | g.47339700A>C | CA380321554 | MYBPC3 | c.2018T>G (p.Ile673Ser) c.2000T>G (p.Ile667Ser) | |
| 11 | g.47339700A>G | CA078477 | MYBPC3 | c.2018T>C (p.Ile673Thr) c.2000T>C (p.Ile667Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47339700A>T | CA380321556 | MYBPC3 | c.2018T>A (p.Ile673Asn) c.2000T>A (p.Ile667Asn) | |
| 11 | g.47339701T>A | CA380321560 | MYBPC3 | c.2017A>T (p.Ile673Phe) c.1999A>T (p.Ile667Phe) | |
| 11 | g.47339701T>C | CA380321562 | MYBPC3 | c.2017A>G (p.Ile673Val) c.1999A>G (p.Ile667Val) | gnomAD v4 |
| 11 | g.47339701T>G | CA380321565 | MYBPC3 | c.2017A>C (p.Ile673Leu) c.1999A>C (p.Ile667Leu) | |
| 11 | g.47339701_47339703delinsTAG | CA1969333415 | MYBPC3 | c.2015_2017delinsCTA (p.Pro672=) c.1997_1999delinsCTA (p.Pro666=) | |
| 11 | g.47339701_47339705delinsTAGGG | CA1969333416 | MYBPC3 | c.2013_2017delinsCCCTA (p.Val671=) c.1995_1999delinsCCCTA (p.Val665=) | |
| 11 | g.47339702A= | CA1969333420 | MYBPC3 | c.2016T= (p.Pro672=) c.1998T= (p.Pro666=) | |
| 11 | g.47339702A>C | CA474217651 | MYBPC3 | c.2016T>G (p.Pro672=) c.1998T>G (p.Pro666=) | dbSNP |
| 11 | g.47339702A>G | CA078474 | MYBPC3 | c.2016T>C (p.Pro672=) c.1998T>C (p.Pro666=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47339702A>T | CA474217655 | MYBPC3 | c.2016T>A (p.Pro672=) c.1998T>A (p.Pro666=) | |
| 11 | g.47339702_47339703del | CA676997349 | MYBPC3 | c.2015_2016del (p.Pro672HisfsTer20) c.1997_1998del (p.Pro666HisfsTer20) c.2015_2016del (p.Pro672HisfsTer21) | dbSNP |
| 11 | g.47339702_47339705delinsCC | CA011652 | MYBPC3 | c.2013_2016delinsGG (p.Pro672AspfsTer20) c.1995_1998delinsGG (p.Pro666AspfsTer20) c.2013_2016delinsGG (p.Pro672AspfsTer21) | ClinVar dbSNP |
| 11 | g.47339703_47339706del | CA937669959 | MYBPC3 | c.2013_2016del (p.Pro672SerfsTer9) c.1995_1998del (p.Pro666SerfsTer9) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47339703G>A | CA380321575 | MYBPC3 | c.2015C>T (p.Pro672Leu) c.1997C>T (p.Pro666Leu) | |
| 11 | g.47339703G>C | CA380321577 | MYBPC3 | c.2015C>G (p.Pro672Arg) c.1997C>G (p.Pro666Arg) | |
| 11 | g.47339703G>T | CA380321579 | MYBPC3 | c.2015C>A (p.Pro672His) c.1997C>A (p.Pro666His) | |
| 11 | g.47339705del | CA2580084196 | MYBPC3 | c.2015del (p.Pro672LeufsTer10) c.1997del (p.Pro666LeufsTer10) | ClinVar |
| 11 | g.47339704G>A | CA380321583 | MYBPC3 | c.2014C>T (p.Pro672Ser) c.1996C>T (p.Pro666Ser) | ClinVar gnomAD v4 |
| 11 | g.47339704G>C | CA380321585 | MYBPC3 | c.2014C>G (p.Pro672Ala) c.1996C>G (p.Pro666Ala) | dbSNP |
| 11 | g.47339704G= | CA1969333422 | MYBPC3 | c.2014C= (p.Pro672=) c.1996C= (p.Pro666=) | |
| 11 | g.47339704G>T | CA380321589 | MYBPC3 | c.2014C>A (p.Pro672Thr) c.1996C>A (p.Pro666Thr) | |
| 11 | g.47339705G>A | CA474217667 | MYBPC3 | c.2013C>T (p.Val671=) c.1995C>T (p.Val665=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339705G>C | CA474217666 | MYBPC3 | c.2013C>G (p.Val671=) c.1995C>G (p.Val665=) | dbSNP |
| 11 | g.47339705G= | CA1969333423 | MYBPC3 | c.2013C= (p.Val671=) c.1995C= (p.Val665=) | |
| 11 | g.47339705G>T | CA474217664 | MYBPC3 | c.2013C>A (p.Val671=) c.1995C>A (p.Val665=) | |
| 11 | g.47339705_47339706insCC | CA937669977 | MYBPC3 | c.2012_2013insGG (p.Pro672AlafsTer11) c.1994_1995insGG (p.Pro666AlafsTer11) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47339706A>C | CA380321598 | MYBPC3 | c.2012T>G (p.Val671Gly) c.1994T>G (p.Val665Gly) | |
| 11 | g.47339706A>G | CA380321595 | MYBPC3 | c.2012T>C (p.Val671Ala) c.1994T>C (p.Val665Ala) | |
| 11 | g.47339706A>T | CA380321593 | MYBPC3 | c.2012T>A (p.Val671Asp) c.1994T>A (p.Val665Asp) | |
| 11 | g.47339707C>A | CA380321601 | MYBPC3 | c.2011G>T (p.Val671Phe) c.1993G>T (p.Val665Phe) | ClinVar dbSNP |
| 11 | g.47339707C= | CA1969333425 | MYBPC3 | c.2011G= (p.Val671=) c.1993G= (p.Val665=) | |
| 11 | g.47339707C>G | CA380321604 | MYBPC3 | c.2011G>C (p.Val671Leu) c.1993G>C (p.Val665Leu) | |
| 11 | g.47339707C>T | CA10576889 | MYBPC3 | c.2011G>A (p.Val671Ile) c.1993G>A (p.Val665Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339708G>A | CA078472 | MYBPC3 | c.2010C>T (p.Asp670=) c.1992C>T (p.Asp664=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339708G>C | CA380321609 | MYBPC3 | c.2010C>G (p.Asp670Glu) c.1992C>G (p.Asp664Glu) | |
| 11 | g.47339708G= | CA1969333428 | MYBPC3 | c.2010C= (p.Asp670=) c.1992C= (p.Asp664=) | |
| 11 | g.47339708G>T | CA380321613 | MYBPC3 | c.2010C>A (p.Asp670Glu) c.1992C>A (p.Asp664Glu) | gnomAD v4 |
| 11 | g.47339709T>A | CA380321616 | MYBPC3 | c.2009A>T (p.Asp670Val) c.1991A>T (p.Asp664Val) | |
| 11 | g.47339709T>C | CA380321619 | MYBPC3 | c.2009A>G (p.Asp670Gly) c.1991A>G (p.Asp664Gly) | |
| 11 | g.47339709T>G | CA380321622 | MYBPC3 | c.2009A>C (p.Asp670Ala) c.1991A>C (p.Asp664Ala) |