Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47337581_47337690del | CA2791331873 | MYBPC3 | c.2413+2_2414del c.2413+2_2414-68del c.2395+2_2396del c.2332+2_2333del | |
11 | g.47337689C>A | CA380318571 | MYBPC3 | c.2413+1G>T (n.2413+1G>T) c.2395+1G>T (n.2395+1G>T) c.2332+1G>T (n.2332+1G>T) | |
11 | g.47337689C= | CA1969331562 | MYBPC3 | c.2413+1G= (n.2413+1G=) c.2395+1G= (n.2395+1G=) c.2332+1G= (n.2332+1G=) | |
11 | g.47337689C>G | CA380318573 | MYBPC3 | c.2413+1G>C (n.2413+1G>C) c.2395+1G>C (n.2395+1G>C) c.2332+1G>C (n.2332+1G>C) | |
11 | g.47337689C>T | CA380318574 | MYBPC3 | c.2413+1G>A (n.2413+1G>A) c.2395+1G>A (n.2395+1G>A) c.2332+1G>A (n.2332+1G>A) | ClinVar dbSNP |
11 | g.47337691del | CA2574816029 | MYBPC3 | c.2413+1del c.2395+1del c.2332+1del | |
11 | g.47337690C>A | CA380318579 | MYBPC3 | c.2413G>T (p.Gly805Cys) c.2413G>T (p.Gly805Ter) c.2395G>T (p.Gly799Cys) c.2332G>T (p.Gly778Cys) | gnomAD v4 |
11 | g.47337690C= | CA1969331563 | MYBPC3 | c.2413G= (p.Gly805=) c.2395G= (p.Gly799=) c.2332G= (p.Gly778=) | |
11 | g.47337690C>G | CA380318580 | MYBPC3 | c.2413G>C (p.Gly805Arg) c.2395G>C (p.Gly799Arg) c.2332G>C (p.Gly778Arg) | |
11 | g.47337690C>T | CA380318577 | MYBPC3 | c.2413G>A (p.Gly805Ser) c.2413G>A (p.Gly805Arg) c.2395G>A (p.Gly799Ser) c.2332G>A (p.Gly778Ser) | ClinVar dbSNP gnomAD v2 |
11 | g.47337691C>A | CA474429373 | MYBPC3 | c.2412G>T (p.Leu804=) c.2394G>T (p.Leu798=) c.2331G>T (p.Leu777=) | |
11 | g.47337691C>G | CA474429374 | MYBPC3 | c.2412G>C (p.Leu804=) c.2394G>C (p.Leu798=) c.2331G>C (p.Leu777=) | gnomAD v4 |
11 | g.47337691C>T | CA474429375 | MYBPC3 | c.2412G>A (p.Leu804=) c.2394G>A (p.Leu798=) c.2331G>A (p.Leu777=) | gnomAD v4 |
11 | g.47337692A>C | CA380318583 | MYBPC3 | c.2411T>G (p.Leu804Arg) c.2393T>G (p.Leu798Arg) c.2330T>G (p.Leu777Arg) | |
11 | g.47337692A>G | CA380318584 | MYBPC3 | c.2411T>C (p.Leu804Pro) c.2393T>C (p.Leu798Pro) c.2330T>C (p.Leu777Pro) | ClinVar gnomAD v4 |
11 | g.47337692A>T | CA380318586 | MYBPC3 | c.2411T>A (p.Leu804Gln) c.2393T>A (p.Leu798Gln) c.2330T>A (p.Leu777Gln) | gnomAD v4 |
11 | g.47337693G>A | CA474429376 | MYBPC3 | c.2410C>T (p.Leu804=) c.2392C>T (p.Leu798=) c.2329C>T (p.Leu777=) | |
11 | g.47337693G>C | CA380318588 | MYBPC3 | c.2410C>G (p.Leu804Val) c.2392C>G (p.Leu798Val) c.2329C>G (p.Leu777Val) | |
11 | g.47337693G= | CA1969331564 | MYBPC3 | c.2410C= (p.Leu804=) c.2392C= (p.Leu798=) c.2329C= (p.Leu777=) | |
11 | g.47337693G>T | CA221688879 | MYBPC3 | c.2410C>A (p.Leu804Met) c.2392C>A (p.Leu798Met) c.2329C>A (p.Leu777Met) | dbSNP gnomAD v4 |
11 | g.47337694G>A | CA474429377 | MYBPC3 | c.2409C>T (p.Ile803=) c.2391C>T (p.Ile797=) c.2328C>T (p.Ile776=) | gnomAD v4 |
11 | g.47337694G>C | CA380318590 | MYBPC3 | c.2409C>G (p.Ile803Met) c.2391C>G (p.Ile797Met) c.2328C>G (p.Ile776Met) | ClinVar dbSNP gnomAD v4 |
11 | g.47337694G= | CA1969331565 | MYBPC3 | c.2409C= (p.Ile803=) c.2391C= (p.Ile797=) c.2328C= (p.Ile776=) | |
11 | g.47337694G>T | CA078685 | MYBPC3 | c.2409C>A (p.Ile803=) c.2391C>A (p.Ile797=) c.2328C>A (p.Ile776=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337695A= | CA1969331566 | MYBPC3 | c.2408T= (p.Ile803=) c.2390T= (p.Ile797=) c.2327T= (p.Ile776=) | |
11 | g.47337695A>C | CA380318591 | MYBPC3 | c.2408T>G (p.Ile803Ser) c.2390T>G (p.Ile797Ser) c.2327T>G (p.Ile776Ser) | |
11 | g.47337695A>G | CA380318593 | MYBPC3 | c.2408T>C (p.Ile803Thr) c.2390T>C (p.Ile797Thr) c.2327T>C (p.Ile776Thr) | |
11 | g.47337695A>T | CA380318594 | MYBPC3 | c.2408T>A (p.Ile803Asn) c.2390T>A (p.Ile797Asn) c.2327T>A (p.Ile776Asn) | ClinVar dbSNP |
11 | g.47337696T>A | CA380318596 | MYBPC3 | c.2407A>T (p.Ile803Phe) c.2389A>T (p.Ile797Phe) c.2326A>T (p.Ile776Phe) | |
11 | g.47337696T>C | CA380318598 | MYBPC3 | c.2407A>G (p.Ile803Val) c.2389A>G (p.Ile797Val) c.2326A>G (p.Ile776Val) | gnomAD v4 |
11 | g.47337696T>G | CA380318600 | MYBPC3 | c.2407A>C (p.Ile803Leu) c.2389A>C (p.Ile797Leu) c.2326A>C (p.Ile776Leu) | |
11 | g.47337697G>A | CA474429378 | MYBPC3 | c.2406C>T (p.Pro802=) c.2388C>T (p.Pro796=) c.2325C>T (p.Pro775=) | ClinVar |
11 | g.47337697G>C | CA474429379 | MYBPC3 | c.2406C>G (p.Pro802=) c.2388C>G (p.Pro796=) c.2325C>G (p.Pro775=) | |
11 | g.47337697G>T | CA049578 | MYBPC3 | c.2406C>A (p.Pro802=) c.2388C>A (p.Pro796=) c.2325C>A (p.Pro775=) | gnomAD v4 |
11 | g.47337699del | CA2574816033 | MYBPC3 | c.2406del (p.Ile803SerfsTer19) c.2406del (p.Ile803SerfsTer?) c.2388del (p.Ile797SerfsTer19) c.2325del (p.Ile776SerfsTer19) | |
11 | g.47337698G>A | CA380318602 | MYBPC3 | c.2405C>T (p.Pro802Leu) c.2387C>T (p.Pro796Leu) c.2324C>T (p.Pro775Leu) | |
11 | g.47337698G>C | CA380318606 | MYBPC3 | c.2405C>G (p.Pro802Arg) c.2387C>G (p.Pro796Arg) c.2324C>G (p.Pro775Arg) | |
11 | g.47337698G>T | CA380318604 | MYBPC3 | c.2405C>A (p.Pro802His) c.2387C>A (p.Pro796His) c.2324C>A (p.Pro775His) | |
11 | g.47337698_47337699insCTGCTTGGAGCCTGTTTCCTCATCTGTAAAATGCGGCTGAGTATCCC | CA049813 | MYBPC3 | c.2404_2405insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG (p.Pro802ArgfsTer36) c.2404_2405insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG (p.Pro802ArgfsTer?) c.2386_2387insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG (p.Pro796ArgfsTer36) c.2323_2324insGGGATACTCAGCCGCATTTTACAGATGAGGAAACAGGCTCCAAGCAG (p.Pro775ArgfsTer36) | |
11 | g.47337699G>A | CA380318608 | MYBPC3 | c.2404C>T (p.Pro802Ser) c.2386C>T (p.Pro796Ser) c.2323C>T (p.Pro775Ser) | gnomAD v4 |
11 | g.47337699G>C | CA380318611 | MYBPC3 | c.2404C>G (p.Pro802Ala) c.2386C>G (p.Pro796Ala) c.2323C>G (p.Pro775Ala) | |
11 | g.47337699G= | CA1969331567 | MYBPC3 | c.2404C= (p.Pro802=) c.2386C= (p.Pro796=) c.2323C= (p.Pro775=) | |
11 | g.47337699G>T | CA380318610 | MYBPC3 | c.2404C>A (p.Pro802Thr) c.2386C>A (p.Pro796Thr) c.2323C>A (p.Pro775Thr) | ClinVar dbSNP gnomAD v2 |
11 | g.47337700C>A | CA380318613 | MYBPC3 | c.2403G>T (p.Gln801His) c.2385G>T (p.Gln795His) c.2322G>T (p.Gln774His) | gnomAD v4 |
11 | g.47337700C= | CA1969331568 | MYBPC3 | c.2403G= (p.Gln801=) c.2385G= (p.Gln795=) c.2322G= (p.Gln774=) | |
11 | g.47337700C>G | CA380318614 | MYBPC3 | c.2403G>C (p.Gln801His) c.2385G>C (p.Gln795His) c.2322G>C (p.Gln774His) | dbSNP |
11 | g.47337700C>T | CA474429380 | MYBPC3 | c.2403G>A (p.Gln801=) c.2385G>A (p.Gln795=) c.2322G>A (p.Gln774=) | gnomAD v4 |
11 | g.47337701T>A | CA380318616 | MYBPC3 | c.2402A>T (p.Gln801Leu) c.2384A>T (p.Gln795Leu) c.2321A>T (p.Gln774Leu) | |
11 | g.47337701T>C | CA380318619 | MYBPC3 | c.2402A>G (p.Gln801Arg) c.2384A>G (p.Gln795Arg) c.2321A>G (p.Gln774Arg) | dbSNP gnomAD v2 |
11 | g.47337701T>G | CA380318617 | MYBPC3 | c.2402A>C (p.Gln801Pro) c.2384A>C (p.Gln795Pro) c.2321A>C (p.Gln774Pro) |