Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47339640_47339664del | CA2573051214 | MYBPC3 | c.2054_2067+11del c.2036_2049+11del | |
11 | g.47339653_47339664del | CA599374378 | MYBPC3 | c.2057_2067+1del c.2039_2049+1del | dbSNP gnomAD v2 gnomAD v3 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) | 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) |