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.47337666_47337668del | CA2613401904 | MYBPC3 | c.2413+24_2413+26del (n.2413+24_2413+26del) c.2395+24_2395+26del (n.2395+24_2395+26del) c.2332+24_2332+26del (n.2332+24_2332+26del) | gnomAD v4 |
11 | g.47337665C>G | CA2613401906 | MYBPC3 | c.2413+25G>C (n.2413+25G>C) c.2395+25G>C (n.2395+25G>C) c.2332+25G>C (n.2332+25G>C) | dbSNP gnomAD v4 |
11 | g.47337665C>T | CA2613401907 | MYBPC3 | c.2413+25G>A (n.2413+25G>A) c.2395+25G>A (n.2395+25G>A) c.2332+25G>A (n.2332+25G>A) | gnomAD v4 |
11 | g.47337672C= | CA1969331551 | MYBPC3 | c.2413+18G= (n.2413+18G=) c.2395+18G= (n.2395+18G=) c.2332+18G= (n.2332+18G=) | |
11 | g.47337672C>G | CA658797626 | MYBPC3 | c.2413+18G>C (n.2413+18G>C) c.2395+18G>C (n.2395+18G>C) c.2332+18G>C (n.2332+18G>C) | ClinVar dbSNP |
11 | g.47337672C>T | CA078694 | MYBPC3 | c.2413+18G>A (n.2413+18G>A) c.2395+18G>A (n.2395+18G>A) c.2332+18G>A (n.2332+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.47337673G>A | CA078692 | MYBPC3 | c.2413+17C>T (n.2413+17C>T) c.2395+17C>T (n.2395+17C>T) c.2332+17C>T (n.2332+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337673G>C | CA2574816024 | MYBPC3 | c.2413+17C>G (n.2413+17C>G) c.2395+17C>G (n.2395+17C>G) c.2332+17C>G (n.2332+17C>G) | |
11 | g.47337673G= | CA1969331552 | MYBPC3 | c.2413+17C= (n.2413+17C=) c.2395+17C= (n.2395+17C=) c.2332+17C= (n.2332+17C=) | |
11 | g.47337673G>T | CA078690 | MYBPC3 | c.2413+17C>A (n.2413+17C>A) c.2395+17C>A (n.2395+17C>A) c.2332+17C>A (n.2332+17C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337674G>A | CA2613401928 | MYBPC3 | c.2413+16C>T (n.2413+16C>T) c.2395+16C>T (n.2395+16C>T) c.2332+16C>T (n.2332+16C>T) | gnomAD v4 |
11 | g.47337674G>C | CA599374230 | MYBPC3 | c.2413+16C>G (n.2413+16C>G) c.2395+16C>G (n.2395+16C>G) c.2332+16C>G (n.2332+16C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47337674G= | CA1969331553 | MYBPC3 | c.2413+16C= (n.2413+16C=) c.2395+16C= (n.2395+16C=) c.2332+16C= (n.2332+16C=) | |
11 | g.47337676G>A | CA049629 | MYBPC3 | c.2413+14C>T (n.2413+14C>T) c.2395+14C>T (n.2395+14C>T) c.2332+14C>T (n.2332+14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337676G= | CA1969331554 | MYBPC3 | c.2413+14C= (n.2413+14C=) c.2395+14C= (n.2395+14C=) c.2332+14C= (n.2332+14C=) | |
11 | g.47337676G>T | CA049616 | MYBPC3 | c.2413+14C>A (n.2413+14C>A) c.2395+14C>A (n.2395+14C>A) c.2332+14C>A (n.2332+14C>A) | gnomAD v4 |
11 | g.47337678C>G | CA2613401935 | MYBPC3 | c.2413+12G>C (n.2413+12G>C) c.2395+12G>C (n.2395+12G>C) c.2332+12G>C (n.2332+12G>C) | gnomAD v4 |
11 | g.47337679C>A | CA2613401937 | MYBPC3 | c.2413+11G>T (n.2413+11G>T) c.2395+11G>T (n.2395+11G>T) c.2332+11G>T (n.2332+11G>T) | gnomAD v4 |
11 | g.47337681T>C | CA2613401939 | MYBPC3 | c.2413+9A>G (n.2413+9A>G) c.2395+9A>G (n.2395+9A>G) c.2332+9A>G (n.2332+9A>G) | gnomAD v4 |
11 | g.47337681T>G | CA2613401938 | MYBPC3 | c.2413+9A>C (n.2413+9A>C) c.2395+9A>C (n.2395+9A>C) c.2332+9A>C (n.2332+9A>C) | gnomAD v4 |
11 | g.47337682G= | CA1969331555 | MYBPC3 | c.2413+8C= (n.2413+8C=) c.2395+8C= (n.2395+8C=) c.2332+8C= (n.2332+8C=) | |
11 | g.47337682G>T | CA1969331556 | MYBPC3 | c.2413+8C>A (n.2413+8C>A) c.2395+8C>A (n.2395+8C>A) c.2332+8C>A (n.2332+8C>A) | dbSNP |
11 | g.47337683C>A | CA2613401941 | MYBPC3 | c.2413+7G>T (n.2413+7G>T) c.2395+7G>T (n.2395+7G>T) c.2332+7G>T (n.2332+7G>T) | gnomAD v4 |
11 | g.47337683C= | CA1969331557 | MYBPC3 | c.2413+7G= (n.2413+7G=) c.2395+7G= (n.2395+7G=) c.2332+7G= (n.2332+7G=) | |
11 | g.47337683C>T | CA078713 | MYBPC3 | c.2413+7G>A (n.2413+7G>A) c.2395+7G>A (n.2395+7G>A) c.2332+7G>A (n.2332+7G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337684A= | CA1969331558 | MYBPC3 | c.2413+6T= (n.2413+6T=) c.2395+6T= (n.2395+6T=) c.2332+6T= (n.2332+6T=) | |
11 | g.47337684A>G | CA078711 | MYBPC3 | c.2413+6T>C (n.2413+6T>C) c.2395+6T>C (n.2395+6T>C) c.2332+6T>C (n.2332+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337684_47337687delinsACTC | CA1969331559 | MYBPC3 | c.2413+3_2413+6delinsGAGT (n.2413+3_2413+6delinsGAGT) c.2395+3_2395+6delinsGAGT (n.2395+3_2395+6delinsGAGT) c.2332+3_2332+6delinsGAGT (n.2332+3_2332+6delinsGAGT) | |
11 | g.47337685C>A | CA2697548564 | MYBPC3 | c.2413+5G>T (n.2413+5G>T) c.2395+5G>T (n.2395+5G>T) c.2332+5G>T (n.2332+5G>T) | ClinVar |
11 | g.47337685C= | CA1969331560 | MYBPC3 | c.2413+5G= (n.2413+5G=) c.2395+5G= (n.2395+5G=) c.2332+5G= (n.2332+5G=) | |
11 | g.47337685C>T | CA676995181 | MYBPC3 | c.2413+5G>A (n.2413+5G>A) c.2395+5G>A (n.2395+5G>A) c.2332+5G>A (n.2332+5G>A) | ClinVar dbSNP |
11 | g.47337685_47337687del | CA16613583 | MYBPC3 | c.2413+3_2413+5del (n.2413+3_2413+5del) c.2395+3_2395+5del (n.2395+3_2395+5del) c.2332+3_2332+5del (n.2332+3_2332+5del) | ClinVar dbSNP |
11 | g.47337687del | CA2695212761 | MYBPC3 | c.2413+3del (n.2413+3del) c.2395+3del (n.2395+3del) c.2332+3del (n.2332+3del) | |
11 | g.47337687C>A | CA2613401964 | MYBPC3 | c.2413+3G>T (n.2413+3G>T) c.2395+3G>T (n.2395+3G>T) c.2332+3G>T (n.2332+3G>T) | gnomAD v4 |
11 | g.47337687C= | CA1969331561 | MYBPC3 | c.2413+3G= (n.2413+3G=) c.2395+3G= (n.2395+3G=) c.2332+3G= (n.2332+3G=) | |
11 | g.47337687dup | CA2695212762 | MYBPC3 | c.2413+3dup (n.2413+3dup) c.2395+3dup (n.2395+3dup) c.2332+3dup (n.2332+3dup) | |
11 | g.47337688A>C | CA380318565 | MYBPC3 | c.2413+2T>G (n.2413+2T>G) c.2395+2T>G (n.2395+2T>G) c.2332+2T>G (n.2332+2T>G) | |
11 | g.47337688A>G | CA380318567 | MYBPC3 | c.2413+2T>C (n.2413+2T>C) c.2395+2T>C (n.2395+2T>C) c.2332+2T>C (n.2332+2T>C) | |
11 | g.47337688A>T | CA380318568 | MYBPC3 | c.2413+2T>A (n.2413+2T>A) c.2395+2T>A (n.2395+2T>A) c.2332+2T>A (n.2332+2T>A) | ClinVar |
11 | g.47337688dup | CA198895 | MYBPC3 | c.2413+2dup (n.2413+2dup) c.2395+2dup (n.2395+2dup) c.2332+2dup (n.2332+2dup) | dbSNP |
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) | |
11 | g.47337701T= | CA1969331569 | MYBPC3 | c.2402A= (p.Gln801=) c.2384A= (p.Gln795=) c.2321A= (p.Gln774=) | |
11 | g.47337702G>A | CA380318621 | MYBPC3 | c.2401C>T (p.Gln801Ter) c.2383C>T (p.Gln795Ter) c.2320C>T (p.Gln774Ter) | |
11 | g.47337702G>C | CA380318625 | MYBPC3 | c.2401C>G (p.Gln801Glu) c.2383C>G (p.Gln795Glu) c.2320C>G (p.Gln774Glu) | gnomAD v4 |
11 | g.47337702G>T | CA380318623 | MYBPC3 | c.2401C>A (p.Gln801Lys) c.2383C>A (p.Gln795Lys) c.2320C>A (p.Gln774Lys) | |
11 | g.47337703C>A | CA474429381 | MYBPC3 | c.2400G>T (p.Gly800=) c.2382G>T (p.Gly794=) c.2319G>T (p.Gly773=) | |
11 | g.47337703C>G | CA474429382 | MYBPC3 | c.2400G>C (p.Gly800=) c.2382G>C (p.Gly794=) c.2319G>C (p.Gly773=) | gnomAD v4 |
11 | g.47337703C>T | CA474429383 | MYBPC3 | c.2400G>A (p.Gly800=) c.2382G>A (p.Gly794=) c.2319G>A (p.Gly773=) | |
11 | g.47337704C>A | CA380318627 | MYBPC3 | c.2399G>T (p.Gly800Val) c.2381G>T (p.Gly794Val) c.2318G>T (p.Gly773Val) | ClinVar dbSNP gnomAD v4 |
11 | g.47337704C= | CA1969331570 | MYBPC3 | c.2399G= (p.Gly800=) c.2381G= (p.Gly794=) c.2318G= (p.Gly773=) | |
11 | g.47337704C>G | CA380318629 | MYBPC3 | c.2399G>C (p.Gly800Ala) c.2381G>C (p.Gly794Ala) c.2318G>C (p.Gly773Ala) | |
11 | g.47337704C>T | CA380318631 | MYBPC3 | c.2399G>A (p.Gly800Glu) c.2381G>A (p.Gly794Glu) c.2318G>A (p.Gly773Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47337705C>A | CA380318633 | MYBPC3 | c.2398G>T (p.Gly800Trp) c.2380G>T (p.Gly794Trp) c.2317G>T (p.Gly773Trp) | gnomAD v4 |
11 | g.47337705C= | CA1969331571 | MYBPC3 | c.2398G= (p.Gly800=) c.2380G= (p.Gly794=) c.2317G= (p.Gly773=) | |
11 | g.47337705C>G | CA380318635 | MYBPC3 | c.2398G>C (p.Gly800Arg) c.2380G>C (p.Gly794Arg) c.2317G>C (p.Gly773Arg) | |
11 | g.47337705C>T | CA012214 | MYBPC3 | c.2398G>A (p.Gly800Arg) c.2380G>A (p.Gly794Arg) c.2317G>A (p.Gly773Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337706G>A | CA078681 | MYBPC3 | c.2397C>T (p.Gly799=) c.2379C>T (p.Gly793=) c.2316C>T (p.Gly772=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337706G>C | CA474215832 | MYBPC3 | c.2397C>G (p.Gly799=) c.2379C>G (p.Gly793=) c.2316C>G (p.Gly772=) | |
11 | g.47337706G= | CA1969331572 | MYBPC3 | c.2397C= (p.Gly799=) c.2379C= (p.Gly793=) c.2316C= (p.Gly772=) | |
11 | g.47337706G>T | CA474215837 | MYBPC3 | c.2397C>A (p.Gly799=) c.2379C>A (p.Gly793=) c.2316C>A (p.Gly772=) | |
11 | g.47337707C>A | CA380318642 | MYBPC3 | c.2396G>T (p.Gly799Val) c.2378G>T (p.Gly793Val) c.2315G>T (p.Gly772Val) | gnomAD v4 |
11 | g.47337707C= | CA1969331573 | MYBPC3 | c.2396G= (p.Gly799=) c.2378G= (p.Gly793=) c.2315G= (p.Gly772=) | |
11 | g.47337707C>G | CA380318644 | MYBPC3 | c.2396G>C (p.Gly799Ala) c.2378G>C (p.Gly793Ala) c.2315G>C (p.Gly772Ala) | |
11 | g.47337707C>T | CA380318646 | MYBPC3 | c.2396G>A (p.Gly799Asp) c.2378G>A (p.Gly793Asp) c.2315G>A (p.Gly772Asp) | ClinVar dbSNP |
11 | g.47337708C>A | CA380318648 | MYBPC3 | c.2395G>T (p.Gly799Cys) c.2377G>T (p.Gly793Cys) c.2314G>T (p.Gly772Cys) | |
11 | g.47337708C= | CA1969331574 | MYBPC3 | c.2395G= (p.Gly799=) c.2377G= (p.Gly793=) c.2314G= (p.Gly772=) | |
11 | g.47337708C>G | CA380318650 | MYBPC3 | c.2395G>C (p.Gly799Arg) c.2377G>C (p.Gly793Arg) c.2314G>C (p.Gly772Arg) | |
11 | g.47337708C>T | CA049565 | MYBPC3 | c.2395G>A (p.Gly799Ser) c.2377G>A (p.Gly793Ser) c.2314G>A (p.Gly772Ser) | |
11 | g.47337709A= | CA1969331575 | MYBPC3 | c.2394T= (p.Asp798=) c.2376T= (p.Asp792=) c.2313T= (p.Asp771=) | |
11 | g.47337709A>C | CA380318654 | MYBPC3 | c.2394T>G (p.Asp798Glu) c.2376T>G (p.Asp792Glu) c.2313T>G (p.Asp771Glu) | |
11 | g.47337709A>G | CA221688892 | MYBPC3 | c.2394T>C (p.Asp798=) c.2376T>C (p.Asp792=) c.2313T>C (p.Asp771=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337709A>T | CA380318652 | MYBPC3 | c.2394T>A (p.Asp798Glu) c.2376T>A (p.Asp792Glu) c.2313T>A (p.Asp771Glu) | gnomAD v4 |
11 | g.47337709dup | CA012205 | MYBPC3 | c.2394dup (p.Gly799TrpfsTer?) c.2394dup (p.Gly799TrpfsTer9) c.2376dup (p.Gly793TrpfsTer?) c.2313dup (p.Gly772TrpfsTer?) | ClinVar dbSNP |
11 | g.47337710T>A | CA380318656 | MYBPC3 | c.2393A>T (p.Asp798Val) c.2375A>T (p.Asp792Val) c.2312A>T (p.Asp771Val) | |
11 | g.47337710T>C | CA380318658 | MYBPC3 | c.2393A>G (p.Asp798Gly) c.2375A>G (p.Asp792Gly) c.2312A>G (p.Asp771Gly) | |
11 | g.47337710T>G | CA380318660 | MYBPC3 | c.2393A>C (p.Asp798Ala) c.2375A>C (p.Asp792Ala) c.2312A>C (p.Asp771Ala) | |
11 | g.47337711C>A | CA380318662 | MYBPC3 | c.2392G>T (p.Asp798Tyr) c.2374G>T (p.Asp792Tyr) c.2311G>T (p.Asp771Tyr) | gnomAD v4 |
11 | g.47337711C= | CA1969331576 | MYBPC3 | c.2392G= (p.Asp798=) c.2374G= (p.Asp792=) c.2311G= (p.Asp771=) | |
11 | g.47337711C>G | CA380318664 | MYBPC3 | c.2392G>C (p.Asp798His) c.2374G>C (p.Asp792His) c.2311G>C (p.Asp771His) | |
11 | g.47337711C>T | CA078678 | MYBPC3 | c.2392G>A (p.Asp798Asn) c.2374G>A (p.Asp792Asn) c.2311G>A (p.Asp771Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337712G>A | CA078676 | MYBPC3 | c.2391C>T (p.Tyr797=) c.2373C>T (p.Tyr791=) c.2310C>T (p.Tyr770=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337712G>C | CA380318667 | MYBPC3 | c.2391C>G (p.Tyr797Ter) c.2373C>G (p.Tyr791Ter) c.2310C>G (p.Tyr770Ter) | ClinVar dbSNP |
11 | g.47337712G= | CA1969331577 | MYBPC3 | c.2391C= (p.Tyr797=) c.2373C= (p.Tyr791=) c.2310C= (p.Tyr770=) | |
11 | g.47337712G>T | CA012195 | MYBPC3 | c.2391C>A (p.Tyr797Ter) c.2373C>A (p.Tyr791Ter) c.2310C>A (p.Tyr770Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47337713T>A | CA380318672 | MYBPC3 | c.2390A>T (p.Tyr797Phe) c.2372A>T (p.Tyr791Phe) c.2309A>T (p.Tyr770Phe) | |
11 | g.47337713T>C | CA380318671 | MYBPC3 | c.2390A>G (p.Tyr797Cys) c.2372A>G (p.Tyr791Cys) c.2309A>G (p.Tyr770Cys) | ClinVar gnomAD v4 |
11 | g.47337713T>G | CA380318670 | MYBPC3 | c.2390A>C (p.Tyr797Ser) c.2372A>C (p.Tyr791Ser) c.2309A>C (p.Tyr770Ser) | |
11 | g.47337714A>C | CA380318674 | MYBPC3 | c.2389T>G (p.Tyr797Asp) c.2371T>G (p.Tyr791Asp) c.2308T>G (p.Tyr770Asp) | |
11 | g.47337714A>G | CA380318676 | MYBPC3 | c.2389T>C (p.Tyr797His) c.2371T>C (p.Tyr791His) c.2308T>C (p.Tyr770His) | |
11 | g.47337714A>T | CA380318678 | MYBPC3 | c.2389T>A (p.Tyr797Asn) c.2371T>A (p.Tyr791Asn) c.2308T>A (p.Tyr770Asn) | |
11 | g.47337715G>A | CA049499 | MYBPC3 | c.2388C>T (p.Ala796=) c.2370C>T (p.Ala790=) c.2307C>T (p.Ala769=) | gnomAD v4 |
11 | g.47337715G>C | CA474215938 | MYBPC3 | c.2388C>G (p.Ala796=) c.2370C>G (p.Ala790=) c.2307C>G (p.Ala769=) | |
11 | g.47337715G>T | CA474215955 | MYBPC3 | c.2388C>A (p.Ala796=) c.2370C>A (p.Ala790=) c.2307C>A (p.Ala769=) | |
11 | g.47337716G>A | CA380318680 | MYBPC3 | c.2387C>T (p.Ala796Val) c.2369C>T (p.Ala790Val) c.2306C>T (p.Ala769Val) | gnomAD v4 |
11 | g.47337716G>C | CA380318682 | MYBPC3 | c.2387C>G (p.Ala796Gly) c.2369C>G (p.Ala790Gly) c.2306C>G (p.Ala769Gly) | |
11 | g.47337716G>T | CA380318684 | MYBPC3 | c.2387C>A (p.Ala796Asp) c.2369C>A (p.Ala790Asp) c.2306C>A (p.Ala769Asp) | gnomAD v4 |
11 | g.47337717C>A | CA380318686 | MYBPC3 | c.2386G>T (p.Ala796Ser) c.2368G>T (p.Ala790Ser) c.2305G>T (p.Ala769Ser) | gnomAD v4 |
11 | g.47337717C>G | CA380318688 | MYBPC3 | c.2386G>C (p.Ala796Pro) c.2368G>C (p.Ala790Pro) c.2305G>C (p.Ala769Pro) | |
11 | g.47337717C>T | CA380318689 | MYBPC3 | c.2386G>A (p.Ala796Thr) c.2368G>A (p.Ala790Thr) c.2305G>A (p.Ala769Thr) | |
11 | g.47337718A>C | CA474215966 | MYBPC3 | c.2385T>G (p.Pro795=) c.2367T>G (p.Pro789=) c.2304T>G (p.Pro768=) | |
11 | g.47337718A>G | CA474215963 | MYBPC3 | c.2385T>C (p.Pro795=) c.2367T>C (p.Pro789=) c.2304T>C (p.Pro768=) | gnomAD v4 |
11 | g.47337718A>T | CA474215961 | MYBPC3 | c.2385T>A (p.Pro795=) c.2367T>A (p.Pro789=) c.2304T>A (p.Pro768=) | |
11 | g.47337719G>A | CA380318692 | MYBPC3 | c.2384C>T (p.Pro795Leu) c.2366C>T (p.Pro789Leu) c.2303C>T (p.Pro768Leu) | |
11 | g.47337719G>C | CA380318694 | MYBPC3 | c.2384C>G (p.Pro795Arg) c.2366C>G (p.Pro789Arg) c.2303C>G (p.Pro768Arg) | |
11 | g.47337719G>T | CA380318695 | MYBPC3 | c.2384C>A (p.Pro795His) c.2366C>A (p.Pro789His) c.2303C>A (p.Pro768His) | gnomAD v4 |
11 | g.47337720G>A | CA380318698 | MYBPC3 | c.2383C>T (p.Pro795Ser) c.2365C>T (p.Pro789Ser) c.2302C>T (p.Pro768Ser) | gnomAD v4 |
11 | g.47337720G>C | CA380318696 | MYBPC3 | c.2383C>G (p.Pro795Ala) c.2365C>G (p.Pro789Ala) c.2302C>G (p.Pro768Ala) | |
11 | g.47337720G= | CA1969331579 | MYBPC3 | c.2383C= (p.Pro795=) c.2365C= (p.Pro789=) c.2302C= (p.Pro768=) | |
11 | g.47337720G>T | CA380318697 | MYBPC3 | c.2383C>A (p.Pro795Thr) c.2365C>A (p.Pro789Thr) c.2302C>A (p.Pro768Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47337720_47337721delinsGC | CA1969331578 | MYBPC3 | c.2382_2383delinsGC (p.Pro794=) c.2364_2365delinsGC (p.Pro788=) c.2301_2302delinsGC (p.Pro767=) | |
11 | g.47337720_47337727del | CA2695212763 | MYBPC3 | c.2376_2383del (p.Trp792CysfsTer?) c.2376_2383del (p.Trp792CysfsTer13) c.2358_2365del (p.Trp786CysfsTer?) c.2295_2302del (p.Trp765CysfsTer?) | |
11 | g.47337721del | CA012182 | MYBPC3 | c.2382del (p.Pro795LeufsTer27) c.2382del (p.Pro795LeufsTer?) c.2364del (p.Pro789LeufsTer27) c.2301del (p.Pro768LeufsTer27) | ClinVar dbSNP |
11 | g.47337721C>A | CA474216020 | MYBPC3 | c.2382G>T (p.Pro794=) c.2364G>T (p.Pro788=) c.2301G>T (p.Pro767=) | gnomAD v4 |
11 | g.47337721C= | CA1969331580 | MYBPC3 | c.2382G= (p.Pro794=) c.2364G= (p.Pro788=) c.2301G= (p.Pro767=) | |
11 | g.47337721C>G | CA474215992 | MYBPC3 | c.2382G>C (p.Pro794=) c.2364G>C (p.Pro788=) c.2301G>C (p.Pro767=) | |
11 | g.47337721C>T | CA474216016 | MYBPC3 | c.2382G>A (p.Pro794=) c.2364G>A (p.Pro788=) c.2301G>A (p.Pro767=) | ClinVar dbSNP gnomAD v4 |
11 | g.47337722G>A | CA012173 | MYBPC3 | c.2381C>T (p.Pro794Leu) c.2363C>T (p.Pro788Leu) c.2300C>T (p.Pro767Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337722G>C | CA380318702 | MYBPC3 | c.2381C>G (p.Pro794Arg) c.2363C>G (p.Pro788Arg) c.2300C>G (p.Pro767Arg) | |
11 | g.47337722G= | CA1969331581 | MYBPC3 | c.2381C= (p.Pro794=) c.2363C= (p.Pro788=) c.2300C= (p.Pro767=) | |
11 | g.47337722G>T | CA380318703 | MYBPC3 | c.2381C>A (p.Pro794Gln) c.2363C>A (p.Pro788Gln) c.2300C>A (p.Pro767Gln) | gnomAD v4 |
11 | g.47337723G>A | CA380318706 | MYBPC3 | c.2380C>T (p.Pro794Ser) c.2362C>T (p.Pro788Ser) c.2299C>T (p.Pro767Ser) | gnomAD v4 |
11 | g.47337723G>C | CA380318708 | MYBPC3 | c.2380C>G (p.Pro794Ala) c.2362C>G (p.Pro788Ala) c.2299C>G (p.Pro767Ala) | |
11 | g.47337723G= | CA1969331582 | MYBPC3 | c.2380C= (p.Pro794=) c.2362C= (p.Pro788=) c.2299C= (p.Pro767=) | |
11 | g.47337723G>T | CA380318710 | MYBPC3 | c.2380C>A (p.Pro794Thr) c.2362C>A (p.Pro788Thr) c.2299C>A (p.Pro767Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337724C>A | CA380318712 | MYBPC3 | c.2379G>T (p.Glu793Asp) c.2361G>T (p.Glu787Asp) c.2298G>T (p.Glu766Asp) | |
11 | g.47337724C= | CA1969331583 | MYBPC3 | c.2379G= (p.Glu793=) c.2361G= (p.Glu787=) c.2298G= (p.Glu766=) | |
11 | g.47337724C>G | CA380318714 | MYBPC3 | c.2379G>C (p.Glu793Asp) c.2361G>C (p.Glu787Asp) c.2298G>C (p.Glu766Asp) | |
11 | g.47337724C>T | CA474216028 | MYBPC3 | c.2379G>A (p.Glu793=) c.2361G>A (p.Glu787=) c.2298G>A (p.Glu766=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47337725T>A | CA380318716 | MYBPC3 | c.2378A>T (p.Glu793Val) c.2360A>T (p.Glu787Val) c.2297A>T (p.Glu766Val) | |
11 | g.47337725T>C | CA380318718 | MYBPC3 | c.2378A>G (p.Glu793Gly) c.2360A>G (p.Glu787Gly) c.2297A>G (p.Glu766Gly) | |
11 | g.47337725T>G | CA380318720 | MYBPC3 | c.2378A>C (p.Glu793Ala) c.2360A>C (p.Glu787Ala) c.2297A>C (p.Glu766Ala) | dbSNP |
11 | g.47337725T= | CA1969331584 | MYBPC3 | c.2378A= (p.Glu793=) c.2360A= (p.Glu787=) c.2297A= (p.Glu766=) | |
11 | g.47337726C>A | CA380318727 | MYBPC3 | c.2377G>T (p.Glu793Ter) c.2359G>T (p.Glu787Ter) c.2296G>T (p.Glu766Ter) | gnomAD v4 |
11 | g.47337726C= | CA1969331585 | MYBPC3 | c.2377G= (p.Glu793=) c.2359G= (p.Glu787=) c.2296G= (p.Glu766=) | |
11 | g.47337726C>G | CA078671 | MYBPC3 | c.2377G>C (p.Glu793Gln) c.2359G>C (p.Glu787Gln) c.2296G>C (p.Glu766Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337726C>T | CA380318722 | MYBPC3 | c.2377G>A (p.Glu793Lys) c.2359G>A (p.Glu787Lys) c.2296G>A (p.Glu766Lys) | gnomAD v4 |
11 | g.47337728dup | CA891842473 | MYBPC3 | c.2377dup (p.Glu793GlyfsTer?) c.2377dup (p.Glu793GlyfsTer15) c.2359dup (p.Glu787GlyfsTer?) c.2296dup (p.Glu766GlyfsTer?) | ClinVar dbSNP |
11 | g.47337727C>A | CA380318730 | MYBPC3 | c.2376G>T (p.Trp792Cys) c.2358G>T (p.Trp786Cys) c.2295G>T (p.Trp765Cys) | |
11 | g.47337727C= | CA1969331586 | MYBPC3 | c.2376G= (p.Trp792=) c.2358G= (p.Trp786=) c.2295G= (p.Trp765=) | |
11 | g.47337727C>G | CA380318729 | MYBPC3 | c.2376G>C (p.Trp792Cys) c.2358G>C (p.Trp786Cys) c.2295G>C (p.Trp765Cys) | |
11 | g.47337727C>T | CA279280 | MYBPC3 | c.2376G>A (p.Trp792Ter) c.2358G>A (p.Trp786Ter) c.2295G>A (p.Trp765Ter) | ClinVar dbSNP |
11 | g.47337728C>A | CA049778 | MYBPC3 | c.2375G>T (p.Trp792Leu) c.2357G>T (p.Trp786Leu) c.2294G>T (p.Trp765Leu) | ClinVar gnomAD v4 |
11 | g.47337728C>G | CA380318733 | MYBPC3 | c.2375G>C (p.Trp792Ser) c.2357G>C (p.Trp786Ser) c.2294G>C (p.Trp765Ser) | |
11 | g.47337728C>T | CA380318735 | MYBPC3 | c.2375G>A (p.Trp792Ter) c.2357G>A (p.Trp786Ter) c.2294G>A (p.Trp765Ter) | ClinVar |
11 | g.47337729A= | CA1969331587 | MYBPC3 | c.2374T= (p.Trp792=) c.2356T= (p.Trp786=) c.2293T= (p.Trp765=) | |
11 | g.47337729A>C | CA221688921 | MYBPC3 | c.2374T>G (p.Trp792Gly) c.2356T>G (p.Trp786Gly) c.2293T>G (p.Trp765Gly) | dbSNP |
11 | g.47337729A>G | CA012147 | MYBPC3 | c.2374T>C (p.Trp792Arg) c.2356T>C (p.Trp786Arg) c.2293T>C (p.Trp765Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337729A>T | CA380318738 | MYBPC3 | c.2374T>A (p.Trp792Arg) c.2356T>A (p.Trp786Arg) c.2293T>A (p.Trp765Arg) | ClinVar dbSNP |
11 | g.47337730C>A | CA380318741 | MYBPC3 | c.2373G>T (p.Gln791His) c.2355G>T (p.Gln785His) c.2292G>T (p.Gln764His) | gnomAD v4 |
11 | g.47337730C= | CA1969331588 | MYBPC3 | c.2373G= (p.Gln791=) c.2355G= (p.Gln785=) c.2292G= (p.Gln764=) | |
11 | g.47337730C>G | CA380318743 | MYBPC3 | c.2373G>C (p.Gln791His) c.2355G>C (p.Gln785His) c.2292G>C (p.Gln764His) | |
11 | g.47337730C>T | CA474216081 | MYBPC3 | c.2373G>A (p.Gln791=) c.2355G>A (p.Gln785=) c.2292G>A (p.Gln764=) | gnomAD v4 |
11 | g.47337730dup | CA012139 | MYBPC3 | c.2373dup (p.Trp792ValfsTer?) c.2373dup (p.Trp792ValfsTer16) c.2355dup (p.Trp786ValfsTer?) c.2292dup (p.Trp765ValfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337731T>A | CA380318752 | MYBPC3 | c.2372A>T (p.Gln791Leu) c.2354A>T (p.Gln785Leu) c.2291A>T (p.Gln764Leu) | gnomAD v4 |
11 | g.47337731T>C | CA078668 | MYBPC3 | c.2372A>G (p.Gln791Arg) c.2354A>G (p.Gln785Arg) c.2291A>G (p.Gln764Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337731T>G | CA380318756 | MYBPC3 | c.2372A>C (p.Gln791Pro) c.2354A>C (p.Gln785Pro) c.2291A>C (p.Gln764Pro) | ClinVar dbSNP |
11 | g.47337731T= | CA1969331589 | MYBPC3 | c.2372A= (p.Gln791=) c.2354A= (p.Gln785=) c.2291A= (p.Gln764=) | |
11 | g.47337731dup | CA221688928 | MYBPC3 | c.2372dup (p.Trp792ValfsTer?) c.2372dup (p.Trp792ValfsTer16) c.2354dup (p.Trp786ValfsTer?) c.2291dup (p.Trp765ValfsTer?) | dbSNP |
11 | g.47337732G>A | CA279318 | MYBPC3 | c.2371C>T (p.Gln791Ter) c.2353C>T (p.Gln785Ter) c.2290C>T (p.Gln764Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47337732G>C | CA380318760 | MYBPC3 | c.2371C>G (p.Gln791Glu) c.2353C>G (p.Gln785Glu) c.2290C>G (p.Gln764Glu) | |
11 | g.47337732G= | CA1969331590 | MYBPC3 | c.2371C= (p.Gln791=) c.2353C= (p.Gln785=) c.2290C= (p.Gln764=) | |
11 | g.47337732G>T | CA380318763 | MYBPC3 | c.2371C>A (p.Gln791Lys) c.2353C>A (p.Gln785Lys) c.2290C>A (p.Gln764Lys) | |
11 | g.47337733T>A | CA474216097 | MYBPC3 | c.2370A>T (p.Val790=) c.2352A>T (p.Val784=) c.2289A>T (p.Val763=) | |
11 | g.47337733T>C | CA474216098 | MYBPC3 | c.2370A>G (p.Val790=) c.2352A>G (p.Val784=) c.2289A>G (p.Val763=) | ClinVar dbSNP |
11 | g.47337733T>G | CA474216101 | MYBPC3 | c.2370A>C (p.Val790=) c.2352A>C (p.Val784=) c.2289A>C (p.Val763=) | |
11 | g.47337733T= | CA1969331591 | MYBPC3 | c.2370A= (p.Val790=) c.2352A= (p.Val784=) c.2289A= (p.Val763=) | |
11 | g.47337734A>C | CA380318768 | MYBPC3 | c.2369T>G (p.Val790Gly) c.2351T>G (p.Val784Gly) c.2288T>G (p.Val763Gly) | |
11 | g.47337734A>G | CA380318771 | MYBPC3 | c.2369T>C (p.Val790Ala) c.2351T>C (p.Val784Ala) c.2288T>C (p.Val763Ala) | gnomAD v4 COSMIC |
11 | g.47337734A>T | CA380318774 | MYBPC3 | c.2369T>A (p.Val790Glu) c.2351T>A (p.Val784Glu) c.2288T>A (p.Val763Glu) | gnomAD v4 |
11 | g.47337735C>A | CA380318777 | MYBPC3 | c.2368G>T (p.Val790Leu) c.2350G>T (p.Val784Leu) c.2287G>T (p.Val763Leu) | |
11 | g.47337735C= | CA1969331592 | MYBPC3 | c.2368G= (p.Val790=) c.2350G= (p.Val784=) c.2287G= (p.Val763=) | |
11 | g.47337735C>G | CA380318780 | MYBPC3 | c.2368G>C (p.Val790Leu) c.2350G>C (p.Val784Leu) c.2287G>C (p.Val763Leu) | dbSNP |
11 | g.47337735C>T | CA380318782 | MYBPC3 | c.2368G>A (p.Val790Ile) c.2350G>A (p.Val784Ile) c.2287G>A (p.Val763Ile) | gnomAD v4 |
11 | g.47337736T>A | CA474216124 | MYBPC3 | c.2367A>T (p.Thr789=) c.2349A>T (p.Thr783=) c.2286A>T (p.Thr762=) | gnomAD v4 |
11 | g.47337736T>C | CA474216118 | MYBPC3 | c.2367A>G (p.Thr789=) c.2349A>G (p.Thr783=) c.2286A>G (p.Thr762=) | gnomAD v4 |
11 | g.47337736T>G | CA474216121 | MYBPC3 | c.2367A>C (p.Thr789=) c.2349A>C (p.Thr783=) c.2286A>C (p.Thr762=) | gnomAD v4 |
11 | g.47337736dup | CA913187723 | MYBPC3 | c.2367dup (p.Val790SerfsTer?) c.2367dup (p.Val790SerfsTer18) c.2349dup (p.Val784SerfsTer?) c.2286dup (p.Val763SerfsTer?) | ClinVar |
11 | g.47337737G>A | CA380318786 | MYBPC3 | c.2366C>T (p.Thr789Ile) c.2348C>T (p.Thr783Ile) c.2285C>T (p.Thr762Ile) | ClinVar dbSNP gnomAD v4 |
11 | g.47337737G>C | CA380318789 | MYBPC3 | c.2366C>G (p.Thr789Arg) c.2348C>G (p.Thr783Arg) c.2285C>G (p.Thr762Arg) | gnomAD v4 |
11 | g.47337737G>T | CA380318791 | MYBPC3 | c.2366C>A (p.Thr789Lys) c.2348C>A (p.Thr783Lys) c.2285C>A (p.Thr762Lys) | gnomAD v4 |
11 | g.47337737_47337738insACCAGCTGGGAGATCTCAAGCAGGTCATTTAACTGCTTGGAGCCTGT | CA2613392508 | MYBPC3 | c.2365_2366insACAGGCTCCAAGCAGTTAAATGACCTGCTTGAGATCTCCCAGCTGGT (p.Thr789AsnfsTer8) c.2347_2348insACAGGCTCCAAGCAGTTAAATGACCTGCTTGAGATCTCCCAGCTGGT (p.Thr783AsnfsTer8) c.2284_2285insACAGGCTCCAAGCAGTTAAATGACCTGCTTGAGATCTCCCAGCTGGT (p.Thr762AsnfsTer8) | gnomAD v4 |
11 | g.47337738T>A | CA380318796 | MYBPC3 | c.2365A>T (p.Thr789Ser) c.2347A>T (p.Thr783Ser) c.2284A>T (p.Thr762Ser) | |
11 | g.47337738T>C | CA380318799 | MYBPC3 | c.2365A>G (p.Thr789Ala) c.2347A>G (p.Thr783Ala) c.2284A>G (p.Thr762Ala) | gnomAD v4 |
11 | g.47337738T>G | CA380318801 | MYBPC3 | c.2365A>C (p.Thr789Pro) c.2347A>C (p.Thr783Pro) c.2284A>C (p.Thr762Pro) | |
11 | g.47337739G>A | CA474216146 | MYBPC3 | c.2364C>T (p.Cys788=) c.2346C>T (p.Cys782=) c.2283C>T (p.Cys761=) | gnomAD v4 |
11 | g.47337739G>C | CA380318808 | MYBPC3 | c.2364C>G (p.Cys788Trp) c.2346C>G (p.Cys782Trp) c.2283C>G (p.Cys761Trp) | |
11 | g.47337739G>T | CA380318805 | MYBPC3 | c.2364C>A (p.Cys788Ter) c.2346C>A (p.Cys782Ter) c.2283C>A (p.Cys761Ter) | ClinVar gnomAD v4 |
11 | g.47337740C>A | CA078665 | MYBPC3 | c.2363G>T (p.Cys788Phe) c.2345G>T (p.Cys782Phe) c.2282G>T (p.Cys761Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337740C= | CA1969331593 | MYBPC3 | c.2363G= (p.Cys788=) c.2345G= (p.Cys782=) c.2282G= (p.Cys761=) | |
11 | g.47337740C>G | CA380318809 | MYBPC3 | c.2363G>C (p.Cys788Ser) c.2345G>C (p.Cys782Ser) c.2282G>C (p.Cys761Ser) | |
11 | g.47337740C>T | CA380318811 | MYBPC3 | c.2363G>A (p.Cys788Tyr) c.2345G>A (p.Cys782Tyr) c.2282G>A (p.Cys761Tyr) | gnomAD v4 |
11 | g.47337741A>C | CA380318814 | MYBPC3 | c.2362T>G (p.Cys788Gly) c.2344T>G (p.Cys782Gly) c.2281T>G (p.Cys761Gly) | gnomAD v4 |
11 | g.47337741A>G | CA380318816 | MYBPC3 | c.2362T>C (p.Cys788Arg) c.2344T>C (p.Cys782Arg) c.2281T>C (p.Cys761Arg) | ClinVar gnomAD v4 |
11 | g.47337741A>T | CA380318817 | MYBPC3 | c.2362T>A (p.Cys788Ser) c.2344T>A (p.Cys782Ser) c.2281T>A (p.Cys761Ser) | |
11 | g.47337741dup | CA923726204 | MYBPC3 | c.2362dup (p.Cys788LeufsTer?) c.2362dup (p.Cys788LeufsTer20) c.2344dup (p.Cys782LeufsTer?) c.2281dup (p.Cys761LeufsTer?) | |
11 | g.47337743_47337745dup | CA913187726 | MYBPC3 | c.2360_2362dup (p.Ser787_Cys788insSer) c.2342_2344dup (p.Ser781_Cys782insSer) c.2279_2281dup (p.Ser760_Cys761insSer) | ClinVar dbSNP |
11 | g.47337742G>A | CA474216184 | MYBPC3 | c.2361C>T (p.Ser787=) c.2343C>T (p.Ser781=) c.2280C>T (p.Ser760=) | gnomAD v4 |
11 | g.47337742G>C | CA474216187 | MYBPC3 | c.2361C>G (p.Ser787=) c.2343C>G (p.Ser781=) c.2280C>G (p.Ser760=) | |
11 | g.47337742G>T | CA474216186 | MYBPC3 | c.2361C>A (p.Ser787=) c.2343C>A (p.Ser781=) c.2280C>A (p.Ser760=) | gnomAD v4 |
11 | g.47337743G>A | CA380318828 | MYBPC3 | c.2360C>T (p.Ser787Phe) c.2342C>T (p.Ser781Phe) c.2279C>T (p.Ser760Phe) | gnomAD v4 |
11 | g.47337743G>C | CA380318822 | MYBPC3 | c.2360C>G (p.Ser787Cys) c.2342C>G (p.Ser781Cys) c.2279C>G (p.Ser760Cys) | |
11 | g.47337743G>T | CA380318825 | MYBPC3 | c.2360C>A (p.Ser787Tyr) c.2342C>A (p.Ser781Tyr) c.2279C>A (p.Ser760Tyr) | gnomAD v4 |
11 | g.47337744A>C | CA380318832 | MYBPC3 | c.2359T>G (p.Ser787Ala) c.2341T>G (p.Ser781Ala) c.2278T>G (p.Ser760Ala) | gnomAD v4 |
11 | g.47337744A>G | CA380318834 | MYBPC3 | c.2359T>C (p.Ser787Pro) c.2341T>C (p.Ser781Pro) c.2278T>C (p.Ser760Pro) | |
11 | g.47337744A>T | CA380318835 | MYBPC3 | c.2359T>A (p.Ser787Thr) c.2341T>A (p.Ser781Thr) c.2278T>A (p.Ser760Thr) | |
11 | g.47337745G>A | CA474216213 | MYBPC3 | c.2358C>T (p.Asp786=) c.2340C>T (p.Asp780=) c.2277C>T (p.Asp759=) | |
11 | g.47337745G>C | CA380318840 | MYBPC3 | c.2358C>G (p.Asp786Glu) c.2340C>G (p.Asp780Glu) c.2277C>G (p.Asp759Glu) | |
11 | g.47337745G>T | CA380318843 | MYBPC3 | c.2358C>A (p.Asp786Glu) c.2340C>A (p.Asp780Glu) c.2277C>A (p.Asp759Glu) | gnomAD v4 |
11 | g.47337746T>A | CA380318847 | MYBPC3 | c.2357A>T (p.Asp786Val) c.2339A>T (p.Asp780Val) c.2276A>T (p.Asp759Val) | |
11 | g.47337746T>C | CA380318853 | MYBPC3 | c.2357A>G (p.Asp786Gly) c.2339A>G (p.Asp780Gly) c.2276A>G (p.Asp759Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.47337746T>G | CA380318850 | MYBPC3 | c.2357A>C (p.Asp786Ala) c.2339A>C (p.Asp780Ala) c.2276A>C (p.Asp759Ala) | dbSNP |
11 | g.47337746T= | CA1969331594 | MYBPC3 | c.2357A= (p.Asp786=) c.2339A= (p.Asp780=) c.2276A= (p.Asp759=) | |
11 | g.47337748_47337750del | CA2724174851 | MYBPC3 | c.2355_2357del (p.Glu785del) c.2337_2339del (p.Glu779del) c.2274_2276del (p.Glu758del) | dbSNP |
11 | g.47337749_47337753del | CA2573051152 | MYBPC3 | c.2353_2357del (p.Glu785LeufsTer?) c.2353_2357del (p.Glu785LeufsTer21) c.2335_2339del (p.Glu779LeufsTer?) c.2272_2276del (p.Glu758LeufsTer?) | |
11 | g.47337747C>A | CA380318856 | MYBPC3 | c.2356G>T (p.Asp786Tyr) c.2338G>T (p.Asp780Tyr) c.2275G>T (p.Asp759Tyr) | ClinVar dbSNP gnomAD v4 |
11 | g.47337747C>G | CA380318858 | MYBPC3 | c.2356G>C (p.Asp786His) c.2338G>C (p.Asp780His) c.2275G>C (p.Asp759His) | |
11 | g.47337747C>T | CA380318861 | MYBPC3 | c.2356G>A (p.Asp786Asn) c.2338G>A (p.Asp780Asn) c.2275G>A (p.Asp759Asn) | |
11 | g.47337748C>A | CA380318865 | MYBPC3 | c.2355G>T (p.Glu785Asp) c.2337G>T (p.Glu779Asp) c.2274G>T (p.Glu758Asp) | gnomAD v4 |
11 | g.47337748C= | CA1969331595 | MYBPC3 | c.2355G= (p.Glu785=) c.2337G= (p.Glu779=) c.2274G= (p.Glu758=) | |
11 | g.47337748C>G | CA380318867 | MYBPC3 | c.2355G>C (p.Glu785Asp) c.2337G>C (p.Glu779Asp) c.2274G>C (p.Glu758Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47337748C>T | CA474216263 | MYBPC3 | c.2355G>A (p.Glu785=) c.2337G>A (p.Glu779=) c.2274G>A (p.Glu758=) | gnomAD v4 |
11 | g.47337749T>A | CA380318871 | MYBPC3 | c.2354A>T (p.Glu785Val) c.2336A>T (p.Glu779Val) c.2273A>T (p.Glu758Val) | |
11 | g.47337749T>C | CA380318874 | MYBPC3 | c.2354A>G (p.Glu785Gly) c.2336A>G (p.Glu779Gly) c.2273A>G (p.Glu758Gly) | gnomAD v4 |
11 | g.47337749T>G | CA380318877 | MYBPC3 | c.2354A>C (p.Glu785Ala) c.2336A>C (p.Glu779Ala) c.2273A>C (p.Glu758Ala) | |
11 | g.47337750C>A | CA380318881 | MYBPC3 | c.2353G>T (p.Glu785Ter) c.2335G>T (p.Glu779Ter) c.2272G>T (p.Glu758Ter) | gnomAD v4 |
11 | g.47337750C= | CA1969331596 | MYBPC3 | c.2353G= (p.Glu785=) c.2335G= (p.Glu779=) c.2272G= (p.Glu758=) | |
11 | g.47337750C>G | CA380318883 | MYBPC3 | c.2353G>C (p.Glu785Gln) c.2335G>C (p.Glu779Gln) c.2272G>C (p.Glu758Gln) | |
11 | g.47337750C>T | CA380318891 | MYBPC3 | c.2353G>A (p.Glu785Lys) c.2335G>A (p.Glu779Lys) c.2272G>A (p.Glu758Lys) | dbSNP |
11 | g.47337751T>A | CA474216280 | MYBPC3 | c.2352A>T (p.Gly784=) c.2334A>T (p.Gly778=) c.2271A>T (p.Gly757=) | |
11 | g.47337751T>C | CA078663 | MYBPC3 | c.2352A>G (p.Gly784=) c.2334A>G (p.Gly778=) c.2271A>G (p.Gly757=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337751T>G | CA474216299 | MYBPC3 | c.2352A>C (p.Gly784=) c.2334A>C (p.Gly778=) c.2271A>C (p.Gly757=) | |
11 | g.47337751T= | CA1969331597 | MYBPC3 | c.2352A= (p.Gly784=) c.2334A= (p.Gly778=) c.2271A= (p.Gly757=) | |
11 | g.47337752C>A | CA380318902 | MYBPC3 | c.2351G>T (p.Gly784Val) c.2333G>T (p.Gly778Val) c.2270G>T (p.Gly757Val) | gnomAD v4 |
11 | g.47337752C= | CA1969331598 | MYBPC3 | c.2351G= (p.Gly784=) c.2333G= (p.Gly778=) c.2270G= (p.Gly757=) | |
11 | g.47337752C>G | CA380318905 | MYBPC3 | c.2351G>C (p.Gly784Ala) c.2333G>C (p.Gly778Ala) c.2270G>C (p.Gly757Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47337752C>T | CA221688960 | MYBPC3 | c.2351G>A (p.Gly784Glu) c.2333G>A (p.Gly778Glu) c.2270G>A (p.Gly757Glu) | ClinVar dbSNP gnomAD v4 |
11 | g.47337754del | CA2574816039 | MYBPC3 | c.2351del (p.Gly784GlufsTer?) c.2333del (p.Gly778GlufsTer?) c.2270del (p.Gly757GlufsTer?) | |
11 | g.47337753C>A | CA380318908 | MYBPC3 | c.2350G>T (p.Gly784Ter) c.2332G>T (p.Gly778Ter) c.2269G>T (p.Gly757Ter) | gnomAD v4 |
11 | g.47337753C= | CA1969331599 | MYBPC3 | c.2350G= (p.Gly784=) c.2332G= (p.Gly778=) c.2269G= (p.Gly757=) | |
11 | g.47337753C>G | CA380318913 | MYBPC3 | c.2350G>C (p.Gly784Arg) c.2332G>C (p.Gly778Arg) c.2269G>C (p.Gly757Arg) | |
11 | g.47337753C>T | CA380318910 | MYBPC3 | c.2350G>A (p.Gly784Arg) c.2332G>A (p.Gly778Arg) c.2269G>A (p.Gly757Arg) | ClinVar dbSNP gnomAD v2 |
11 | g.47337754C>A | CA474216328 | MYBPC3 | c.2349G>T (p.Val783=) c.2331G>T (p.Val777=) c.2268G>T (p.Val756=) | gnomAD v4 |
11 | g.47337754C>G | CA474216330 | MYBPC3 | c.2349G>C (p.Val783=) c.2331G>C (p.Val777=) c.2268G>C (p.Val756=) | |
11 | g.47337754C>T | CA474216333 | MYBPC3 | c.2349G>A (p.Val783=) c.2331G>A (p.Val777=) c.2268G>A (p.Val756=) | gnomAD v4 |
11 | g.47337755A= | CA1969331600 | MYBPC3 | c.2348T= (p.Val783=) c.2330T= (p.Val777=) c.2267T= (p.Val756=) | |
11 | g.47337755A>C | CA380318917 | MYBPC3 | c.2348T>G (p.Val783Gly) c.2330T>G (p.Val777Gly) c.2267T>G (p.Val756Gly) | |
11 | g.47337755A>G | CA380318923 | MYBPC3 | c.2348T>C (p.Val783Ala) c.2330T>C (p.Val777Ala) c.2267T>C (p.Val756Ala) | dbSNP gnomAD v4 |
11 | g.47337755A>T | CA380318920 | MYBPC3 | c.2348T>A (p.Val783Glu) c.2330T>A (p.Val777Glu) c.2267T>A (p.Val756Glu) | |
11 | g.47337756C>A | CA16609755 | MYBPC3 | c.2347G>T (p.Val783Leu) c.2329G>T (p.Val777Leu) c.2266G>T (p.Val756Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337756C= | CA1969331601 | MYBPC3 | c.2347G= (p.Val783=) c.2329G= (p.Val777=) c.2266G= (p.Val756=) | |
11 | g.47337756C>G | CA380318929 | MYBPC3 | c.2347G>C (p.Val783Leu) c.2329G>C (p.Val777Leu) c.2266G>C (p.Val756Leu) | |
11 | g.47337756C>T | CA380318933 | MYBPC3 | c.2347G>A (p.Val783Met) c.2329G>A (p.Val777Met) c.2266G>A (p.Val756Met) | ClinVar dbSNP gnomAD v4 |
11 | g.47337757G>A | CA078662 | MYBPC3 | c.2346C>T (p.Asn782=) c.2328C>T (p.Asn776=) c.2265C>T (p.Asn755=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337757G>C | CA380318939 | MYBPC3 | c.2346C>G (p.Asn782Lys) c.2328C>G (p.Asn776Lys) c.2265C>G (p.Asn755Lys) | |
11 | g.47337757G= | CA1969331602 | MYBPC3 | c.2346C= (p.Asn782=) c.2328C= (p.Asn776=) c.2265C= (p.Asn755=) | |
11 | g.47337757G>T | CA380318942 | MYBPC3 | c.2346C>A (p.Asn782Lys) c.2328C>A (p.Asn776Lys) c.2265C>A (p.Asn755Lys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47337758T>A | CA380318946 | MYBPC3 | c.2345A>T (p.Asn782Ile) c.2327A>T (p.Asn776Ile) c.2264A>T (p.Asn755Ile) | |
11 | g.47337758T>C | CA078660 | MYBPC3 | c.2345A>G (p.Asn782Ser) c.2327A>G (p.Asn776Ser) c.2264A>G (p.Asn755Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337758T>G | CA380318951 | MYBPC3 | c.2345A>C (p.Asn782Thr) c.2327A>C (p.Asn776Thr) c.2264A>C (p.Asn755Thr) | |
11 | g.47337758T= | CA1969331603 | MYBPC3 | c.2345A= (p.Asn782=) c.2327A= (p.Asn776=) c.2264A= (p.Asn755=) | |
11 | g.47337759T>A | CA380318954 | MYBPC3 | c.2344A>T (p.Asn782Tyr) c.2326A>T (p.Asn776Tyr) c.2263A>T (p.Asn755Tyr) | gnomAD v4 |
11 | g.47337759T>C | CA380318956 | MYBPC3 | c.2344A>G (p.Asn782Asp) c.2326A>G (p.Asn776Asp) c.2263A>G (p.Asn755Asp) | gnomAD v4 |
11 | g.47337759T>G | CA380318957 | MYBPC3 | c.2344A>C (p.Asn782His) c.2326A>C (p.Asn776His) c.2263A>C (p.Asn755His) | |
11 | g.47337760G>A | CA049395 | MYBPC3 | c.2343C>T (p.Ser781=) c.2325C>T (p.Ser775=) c.2262C>T (p.Ser754=) | gnomAD v4 |
11 | g.47337760G>C | CA380318960 | MYBPC3 | c.2343C>G (p.Ser781Arg) c.2325C>G (p.Ser775Arg) c.2262C>G (p.Ser754Arg) | gnomAD v4 |
11 | g.47337760G>T | CA380318963 | MYBPC3 | c.2343C>A (p.Ser781Arg) c.2325C>A (p.Ser775Arg) c.2262C>A (p.Ser754Arg) | ClinVar gnomAD v4 |
11 | g.47337761C>A | CA380318966 | MYBPC3 | c.2342G>T (p.Ser781Ile) c.2324G>T (p.Ser775Ile) c.2261G>T (p.Ser754Ile) | gnomAD v4 |
11 | g.47337761C= | CA1969331604 | MYBPC3 | c.2342G= (p.Ser781=) c.2324G= (p.Ser775=) c.2261G= (p.Ser754=) | |
11 | g.47337761C>G | CA380318969 | MYBPC3 | c.2342G>C (p.Ser781Thr) c.2324G>C (p.Ser775Thr) c.2261G>C (p.Ser754Thr) | |
11 | g.47337761C>T | CA380318973 | MYBPC3 | c.2342G>A (p.Ser781Asn) c.2324G>A (p.Ser775Asn) c.2261G>A (p.Ser754Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47337762T>A | CA380318977 | MYBPC3 | c.2341A>T (p.Ser781Cys) c.2323A>T (p.Ser775Cys) c.2260A>T (p.Ser754Cys) | |
11 | g.47337762T>C | CA380318988 | MYBPC3 | c.2341A>G (p.Ser781Gly) c.2323A>G (p.Ser775Gly) c.2260A>G (p.Ser754Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.47337762T>G | CA380318989 | MYBPC3 | c.2341A>C (p.Ser781Arg) c.2323A>C (p.Ser775Arg) c.2260A>C (p.Ser754Arg) | |
11 | g.47337762T= | CA1969331605 | MYBPC3 | c.2341A= (p.Ser781=) c.2323A= (p.Ser775=) c.2260A= (p.Ser754=) | |
11 | g.47337763G>A | CA474216414 | MYBPC3 | c.2340C>T (p.Ile780=) c.2322C>T (p.Ile774=) c.2259C>T (p.Ile753=) | gnomAD v4 |
11 | g.47337763G>C | CA380318995 | MYBPC3 | c.2340C>G (p.Ile780Met) c.2322C>G (p.Ile774Met) c.2259C>G (p.Ile753Met) | gnomAD v4 |
11 | g.47337763G>T | CA474216417 | MYBPC3 | c.2340C>A (p.Ile780=) c.2322C>A (p.Ile774=) c.2259C>A (p.Ile753=) | gnomAD v4 |
11 | g.47337764A= | CA1969331606 | MYBPC3 | c.2339T= (p.Ile780=) c.2321T= (p.Ile774=) c.2258T= (p.Ile753=) | |
11 | g.47337764A>C | CA078657 | MYBPC3 | c.2339T>G (p.Ile780Ser) c.2321T>G (p.Ile774Ser) c.2258T>G (p.Ile753Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337764A>G | CA380319000 | MYBPC3 | c.2339T>C (p.Ile780Thr) c.2321T>C (p.Ile774Thr) c.2258T>C (p.Ile753Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.47337764A>T | CA380319003 | MYBPC3 | c.2339T>A (p.Ile780Asn) c.2321T>A (p.Ile774Asn) c.2258T>A (p.Ile753Asn) | |
11 | g.47337765T>A | CA380319010 | MYBPC3 | c.2338A>T (p.Ile780Phe) c.2320A>T (p.Ile774Phe) c.2257A>T (p.Ile753Phe) | ClinVar |
11 | g.47337765T>C | CA380319012 | MYBPC3 | c.2338A>G (p.Ile780Val) c.2320A>G (p.Ile774Val) c.2257A>G (p.Ile753Val) | ClinVar COSMIC COSMIC |
11 | g.47337765T>G | CA380319008 | MYBPC3 | c.2338A>C (p.Ile780Leu) c.2320A>C (p.Ile774Leu) c.2257A>C (p.Ile753Leu) |