Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47339585C>A | CA221690989 | MYBPC3 | c.2067+66G>T (n.2067+66G>T) c.2049+66G>T (n.2049+66G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47339585C= | CA1969333332 | MYBPC3 | c.2067+66G= (n.2067+66G=) c.2049+66G= (n.2049+66G=) | |
11 | g.47339586T>G | CA599374372 | MYBPC3 | c.2067+65A>C (n.2067+65A>C) c.2049+65A>C (n.2049+65A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47339586T= | CA1969333333 | MYBPC3 | c.2067+65A= (n.2067+65A=) c.2049+65A= (n.2049+65A=) | |
11 | g.47339587A>G | CA2574816191 | MYBPC3 | c.2067+64T>C (n.2067+64T>C) c.2049+64T>C (n.2049+64T>C) | |
11 | g.47339591C>T | CA2613395165 | MYBPC3 | c.2067+60G>A (n.2067+60G>A) c.2049+60G>A (n.2049+60G>A) | gnomAD v4 |
11 | g.47339595G>A | CA221690995 | MYBPC3 | c.2067+56C>T (n.2067+56C>T) c.2049+56C>T (n.2049+56C>T) | dbSNP |
11 | g.47339595G= | CA1969333335 | MYBPC3 | c.2067+56C= (n.2067+56C=) c.2049+56C= (n.2049+56C=) | |
11 | g.47339596C>T | CA2574816192 | MYBPC3 | c.2067+55G>A (n.2067+55G>A) c.2049+55G>A (n.2049+55G>A) | gnomAD v4 |
11 | g.47339598G>A | CA1969333336 | MYBPC3 | c.2067+53C>T (n.2067+53C>T) c.2049+53C>T (n.2049+53C>T) | dbSNP gnomAD v4 |
11 | g.47339598G= | CA1969333337 | MYBPC3 | c.2067+53C= (n.2067+53C=) c.2049+53C= (n.2049+53C=) | |
11 | g.47339599del | CA2574816193 | MYBPC3 | c.2067+53del (n.2067+53del) c.2049+53del (n.2049+53del) | |
11 | g.47339599G>C | CA221691014 | MYBPC3 | c.2067+52C>G (n.2067+52C>G) c.2049+52C>G (n.2049+52C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47339599G= | CA1969333338 | MYBPC3 | c.2067+52C= (n.2067+52C=) c.2049+52C= (n.2049+52C=) | |
11 | g.47339600T>C | CA2613395188 | MYBPC3 | c.2067+51A>G (n.2067+51A>G) c.2049+51A>G (n.2049+51A>G) | gnomAD v4 |
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.47339605C>T | CA2613395192 | MYBPC3 | c.2067+46G>A (n.2067+46G>A) c.2049+46G>A (n.2049+46G>A) | gnomAD v4 |
11 | g.47339607C>A | CA2613395196 | MYBPC3 | c.2067+44G>T (n.2067+44G>T) c.2049+44G>T (n.2049+44G>T) | gnomAD v4 |
11 | g.47339607C= | CA1969333339 | MYBPC3 | c.2067+44G= (n.2067+44G=) c.2049+44G= (n.2049+44G=) | |
11 | g.47339607C>G | CA221691028 | MYBPC3 | c.2067+44G>C (n.2067+44G>C) c.2049+44G>C (n.2049+44G>C) | dbSNP gnomAD v2 |
11 | g.47339607C>T | CA676997194 | MYBPC3 | c.2067+44G>A (n.2067+44G>A) c.2049+44G>A (n.2049+44G>A) | dbSNP gnomAD v3 gnomAD v4 |
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 |