Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47337581_47337690delCA2791331873MYBPC3c.2413+2_2414del
c.2413+2_2414-68del
c.2395+2_2396del
c.2332+2_2333del
11g.47337684_47337687delinsACTCCA1969331559MYBPC3c.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)
11g.47337685C>ACA2697548564MYBPC3c.2413+5G>T (n.2413+5G>T)
c.2395+5G>T (n.2395+5G>T)
c.2332+5G>T (n.2332+5G>T)
 ClinVar
11g.47337685C=CA1969331560MYBPC3c.2413+5G= (n.2413+5G=)
c.2395+5G= (n.2395+5G=)
c.2332+5G= (n.2332+5G=)
11g.47337685C>TCA676995181MYBPC3c.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
11g.47337685_47337687delCA16613583MYBPC3c.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
11g.47337687delCA2695212761MYBPC3c.2413+3del (n.2413+3del)
c.2395+3del (n.2395+3del)
c.2332+3del (n.2332+3del)
11g.47337687C>ACA2613401964MYBPC3c.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
11g.47337687C=CA1969331561MYBPC3c.2413+3G= (n.2413+3G=)
c.2395+3G= (n.2395+3G=)
c.2332+3G= (n.2332+3G=)
11g.47337687dupCA2695212762MYBPC3c.2413+3dup (n.2413+3dup)
c.2395+3dup (n.2395+3dup)
c.2332+3dup (n.2332+3dup)
11g.47337688A>CCA380318565MYBPC3c.2413+2T>G (n.2413+2T>G)
c.2395+2T>G (n.2395+2T>G)
c.2332+2T>G (n.2332+2T>G)
11g.47337688A>GCA380318567MYBPC3c.2413+2T>C (n.2413+2T>C)
c.2395+2T>C (n.2395+2T>C)
c.2332+2T>C (n.2332+2T>C)
11g.47337688A>TCA380318568MYBPC3c.2413+2T>A (n.2413+2T>A)
c.2395+2T>A (n.2395+2T>A)
c.2332+2T>A (n.2332+2T>A)
 ClinVar
11g.47337688dupCA198895MYBPC3c.2413+2dup (n.2413+2dup)
c.2395+2dup (n.2395+2dup)
c.2332+2dup (n.2332+2dup)
 dbSNP
11g.47337689C>ACA380318571MYBPC3c.2413+1G>T (n.2413+1G>T)
c.2395+1G>T (n.2395+1G>T)
c.2332+1G>T (n.2332+1G>T)
11g.47337689C=CA1969331562MYBPC3c.2413+1G= (n.2413+1G=)
c.2395+1G= (n.2395+1G=)
c.2332+1G= (n.2332+1G=)
11g.47337689C>GCA380318573MYBPC3c.2413+1G>C (n.2413+1G>C)
c.2395+1G>C (n.2395+1G>C)
c.2332+1G>C (n.2332+1G>C)
11g.47337689C>TCA380318574MYBPC3c.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
11g.47337691delCA2574816029MYBPC3c.2413+1del
c.2395+1del
c.2332+1del
11g.47337690C>ACA380318579MYBPC3c.2413G>T (p.Gly805Cys)
c.2413G>T (p.Gly805Ter)
c.2395G>T (p.Gly799Cys)
c.2332G>T (p.Gly778Cys)
 gnomAD v4
11g.47337690C=CA1969331563MYBPC3c.2413G= (p.Gly805=)
c.2395G= (p.Gly799=)
c.2332G= (p.Gly778=)
11g.47337690C>GCA380318580MYBPC3c.2413G>C (p.Gly805Arg)
c.2395G>C (p.Gly799Arg)
c.2332G>C (p.Gly778Arg)
11g.47337690C>TCA380318577MYBPC3c.2413G>A (p.Gly805Ser)
c.2413G>A (p.Gly805Arg)
c.2395G>A (p.Gly799Ser)
c.2332G>A (p.Gly778Ser)
 ClinVar dbSNP gnomAD v2
11g.47337691C>ACA474429373MYBPC3c.2412G>T (p.Leu804=)
c.2394G>T (p.Leu798=)
c.2331G>T (p.Leu777=)
11g.47337691C>GCA474429374MYBPC3c.2412G>C (p.Leu804=)
c.2394G>C (p.Leu798=)
c.2331G>C (p.Leu777=)
 gnomAD v4
11g.47337691C>TCA474429375MYBPC3c.2412G>A (p.Leu804=)
c.2394G>A (p.Leu798=)
c.2331G>A (p.Leu777=)
 gnomAD v4
11g.47337692A>CCA380318583MYBPC3c.2411T>G (p.Leu804Arg)
c.2393T>G (p.Leu798Arg)
c.2330T>G (p.Leu777Arg)
11g.47337692A>GCA380318584MYBPC3c.2411T>C (p.Leu804Pro)
c.2393T>C (p.Leu798Pro)
c.2330T>C (p.Leu777Pro)
 ClinVar gnomAD v4
11g.47337692A>TCA380318586MYBPC3c.2411T>A (p.Leu804Gln)
c.2393T>A (p.Leu798Gln)
c.2330T>A (p.Leu777Gln)
 gnomAD v4
11g.47337693G>ACA474429376MYBPC3c.2410C>T (p.Leu804=)
c.2392C>T (p.Leu798=)
c.2329C>T (p.Leu777=)
11g.47337693G>CCA380318588MYBPC3c.2410C>G (p.Leu804Val)
c.2392C>G (p.Leu798Val)
c.2329C>G (p.Leu777Val)
11g.47337693G=CA1969331564MYBPC3c.2410C= (p.Leu804=)
c.2392C= (p.Leu798=)
c.2329C= (p.Leu777=)
11g.47337693G>TCA221688879MYBPC3c.2410C>A (p.Leu804Met)
c.2392C>A (p.Leu798Met)
c.2329C>A (p.Leu777Met)
 dbSNP gnomAD v4
11g.47337694G>ACA474429377MYBPC3c.2409C>T (p.Ile803=)
c.2391C>T (p.Ile797=)
c.2328C>T (p.Ile776=)
 gnomAD v4
11g.47337694G>CCA380318590MYBPC3c.2409C>G (p.Ile803Met)
c.2391C>G (p.Ile797Met)
c.2328C>G (p.Ile776Met)
 ClinVar dbSNP gnomAD v4
11g.47337694G=CA1969331565MYBPC3c.2409C= (p.Ile803=)
c.2391C= (p.Ile797=)
c.2328C= (p.Ile776=)
11g.47337694G>TCA078685MYBPC3c.2409C>A (p.Ile803=)
c.2391C>A (p.Ile797=)
c.2328C>A (p.Ile776=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337695A=CA1969331566MYBPC3c.2408T= (p.Ile803=)
c.2390T= (p.Ile797=)
c.2327T= (p.Ile776=)
11g.47337695A>CCA380318591MYBPC3c.2408T>G (p.Ile803Ser)
c.2390T>G (p.Ile797Ser)
c.2327T>G (p.Ile776Ser)
11g.47337695A>GCA380318593MYBPC3c.2408T>C (p.Ile803Thr)
c.2390T>C (p.Ile797Thr)
c.2327T>C (p.Ile776Thr)
11g.47337695A>TCA380318594MYBPC3c.2408T>A (p.Ile803Asn)
c.2390T>A (p.Ile797Asn)
c.2327T>A (p.Ile776Asn)
 ClinVar dbSNP
11g.47337696T>ACA380318596MYBPC3c.2407A>T (p.Ile803Phe)
c.2389A>T (p.Ile797Phe)
c.2326A>T (p.Ile776Phe)
11g.47337696T>CCA380318598MYBPC3c.2407A>G (p.Ile803Val)
c.2389A>G (p.Ile797Val)
c.2326A>G (p.Ile776Val)
 gnomAD v4
11g.47337696T>GCA380318600MYBPC3c.2407A>C (p.Ile803Leu)
c.2389A>C (p.Ile797Leu)
c.2326A>C (p.Ile776Leu)
11g.47337697G>ACA474429378MYBPC3c.2406C>T (p.Pro802=)
c.2388C>T (p.Pro796=)
c.2325C>T (p.Pro775=)
 ClinVar
11g.47337697G>CCA474429379MYBPC3c.2406C>G (p.Pro802=)
c.2388C>G (p.Pro796=)
c.2325C>G (p.Pro775=)
11g.47337697G>TCA049578MYBPC3c.2406C>A (p.Pro802=)
c.2388C>A (p.Pro796=)
c.2325C>A (p.Pro775=)
 gnomAD v4
11g.47337699delCA2574816033MYBPC3c.2406del (p.Ile803SerfsTer19)
c.2406del (p.Ile803SerfsTer?)
c.2388del (p.Ile797SerfsTer19)
c.2325del (p.Ile776SerfsTer19)
11g.47337698G>ACA380318602MYBPC3c.2405C>T (p.Pro802Leu)
c.2387C>T (p.Pro796Leu)
c.2324C>T (p.Pro775Leu)
11g.47337698G>CCA380318606MYBPC3c.2405C>G (p.Pro802Arg)
c.2387C>G (p.Pro796Arg)
c.2324C>G (p.Pro775Arg)

Number of alleles fetched