Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47337564C>ACA012244MYBPC3c.2429G>T (p.Arg810Leu)
c.2414-53G>T (n.2414-53G>T)
c.2411G>T (p.Arg804Leu)
c.2348G>T (p.Arg783Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47337564C=CA1969340365MYBPC3c.2429G= (p.Arg810=)
c.2414-53G= (n.2414-53G=)
c.2411G= (p.Arg804=)
c.2348G= (p.Arg783=)
11g.47337564C>GCA380318494MYBPC3c.2429G>C (p.Arg810Pro)
c.2414-53G>C (n.2414-53G>C)
c.2411G>C (p.Arg804Pro)
c.2348G>C (p.Arg783Pro)
dbSNP
11g.47337564C>TCA012237MYBPC3c.2429G>A (p.Arg810His)
c.2414-53G>A (n.2414-53G>A)
c.2411G>A (p.Arg804His)
c.2348G>A (p.Arg783His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47337565G>ACA380318498MYBPC3c.2428C>T (p.Arg810Cys)
c.2414-54C>T (n.2414-54C>T)
c.2410C>T (p.Arg804Cys)
c.2347C>T (p.Arg783Cys)
gnomAD v4
11g.47337565G>CCA380318500MYBPC3c.2428C>G (p.Arg810Gly)
c.2414-54C>G (n.2414-54C>G)
c.2410C>G (p.Arg804Gly)
c.2347C>G (p.Arg783Gly)
ClinVar dbSNP
11g.47337565G=CA1969340368MYBPC3c.2428C= (p.Arg810=)
c.2414-54C= (n.2414-54C=)
c.2410C= (p.Arg804=)
c.2347C= (p.Arg783=)
11g.47337565G>TCA380318502MYBPC3c.2428C>A (p.Arg810Ser)
c.2414-54C>A (n.2414-54C>A)
c.2410C>A (p.Arg804Ser)
c.2347C>A (p.Arg783Ser)
11g.47337566C>ACA380318505MYBPC3c.2427G>T (p.Glu809Asp)
c.2414-55G>T (n.2414-55G>T)
c.2409G>T (p.Glu803Asp)
c.2346G>T (p.Glu782Asp)
11g.47337566C>GCA380318507MYBPC3c.2427G>C (p.Glu809Asp)
c.2414-55G>C (n.2414-55G>C)
c.2409G>C (p.Glu803Asp)
c.2346G>C (p.Glu782Asp)
11g.47337566C>TCA474429362MYBPC3c.2427G>A (p.Glu809=)
c.2414-55G>A (n.2414-55G>A)
c.2409G>A (p.Glu803=)
c.2346G>A (p.Glu782=)
11g.47337567T>ACA380318510MYBPC3c.2426A>T (p.Glu809Val)
c.2414-56A>T (n.2414-56A>T)
c.2408A>T (p.Glu803Val)
c.2345A>T (p.Glu782Val)
11g.47337567T>CCA078730MYBPC3c.2426A>G (p.Glu809Gly)
c.2414-56A>G (n.2414-56A>G)
c.2408A>G (p.Glu803Gly)
c.2345A>G (p.Glu782Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47337567T>GCA380318512MYBPC3c.2426A>C (p.Glu809Ala)
c.2414-56A>C (n.2414-56A>C)
c.2408A>C (p.Glu803Ala)
c.2345A>C (p.Glu782Ala)
11g.47337567T=CA1969340370MYBPC3c.2426A= (p.Glu809=)
c.2414-56A= (n.2414-56A=)
c.2408A= (p.Glu803=)
c.2345A= (p.Glu782=)
11g.47337568C>ACA380318516MYBPC3c.2425G>T (p.Glu809Ter)
c.2414-57G>T (n.2414-57G>T)
c.2407G>T (p.Glu803Ter)
c.2344G>T (p.Glu782Ter)
11g.47337568C=CA1969340372MYBPC3c.2425G= (p.Glu809=)
c.2414-57G= (n.2414-57G=)
c.2407G= (p.Glu803=)
c.2344G= (p.Glu782=)
11g.47337568C>GCA380318518MYBPC3c.2425G>C (p.Glu809Gln)
c.2414-57G>C (n.2414-57G>C)
c.2407G>C (p.Glu803Gln)
c.2344G>C (p.Glu782Gln)
ClinVar
11g.47337568C>TCA380318521MYBPC3c.2425G>A (p.Glu809Lys)
c.2414-57G>A (n.2414-57G>A)
c.2407G>A (p.Glu803Lys)
c.2344G>A (p.Glu782Lys)
ClinVar dbSNP
11g.47337569C>ACA474429365MYBPC3c.2424G>T (p.Leu808=)
c.2414-58G>T (n.2414-58G>T)
c.2406G>T (p.Leu802=)
c.2343G>T (p.Leu781=)
11g.47337569C>GCA474429364MYBPC3c.2424G>C (p.Leu808=)
c.2414-58G>C (n.2414-58G>C)
c.2406G>C (p.Leu802=)
c.2343G>C (p.Leu781=)
11g.47337569C>TCA474429363MYBPC3c.2424G>A (p.Leu808=)
c.2414-58G>A (n.2414-58G>A)
c.2406G>A (p.Leu802=)
c.2343G>A (p.Leu781=)
11g.47337570A>CCA380318523MYBPC3c.2423T>G (p.Leu808Arg)
c.2414-59T>G (n.2414-59T>G)
c.2405T>G (p.Leu802Arg)
c.2342T>G (p.Leu781Arg)
11g.47337570A>GCA380318525MYBPC3c.2423T>C (p.Leu808Pro)
c.2414-59T>C (n.2414-59T>C)
c.2405T>C (p.Leu802Pro)
c.2342T>C (p.Leu781Pro)
ClinVar dbSNP
11g.47337570A>TCA380318527MYBPC3c.2423T>A (p.Leu808Gln)
c.2414-59T>A (n.2414-59T>A)
c.2405T>A (p.Leu802Gln)
c.2342T>A (p.Leu781Gln)
11g.47337571G>ACA474429366MYBPC3c.2422C>T (p.Leu808=)
c.2414-60C>T (n.2414-60C>T)
c.2404C>T (p.Leu802=)
c.2341C>T (p.Leu781=)
gnomAD v4
11g.47337571G>CCA380318530MYBPC3c.2422C>G (p.Leu808Val)
c.2414-60C>G (n.2414-60C>G)
c.2404C>G (p.Leu802Val)
c.2341C>G (p.Leu781Val)
11g.47337571G>TCA380318531MYBPC3c.2422C>A (p.Leu808Met)
c.2414-60C>A (n.2414-60C>A)
c.2404C>A (p.Leu802Met)
c.2341C>A (p.Leu781Met)
11g.47337572G>ACA474429367MYBPC3c.2421C>T (p.Ile807=)
c.2414-61C>T (n.2414-61C>T)
c.2403C>T (p.Ile801=)
c.2340C>T (p.Ile780=)
11g.47337572G>CCA380318535MYBPC3c.2421C>G (p.Ile807Met)
c.2414-61C>G (n.2414-61C>G)
c.2403C>G (p.Ile801Met)
c.2340C>G (p.Ile780Met)
11g.47337572G>TCA474429368MYBPC3c.2421C>A (p.Ile807=)
c.2414-61C>A (n.2414-61C>A)
c.2403C>A (p.Ile801=)
c.2340C>A (p.Ile780=)
11g.47337573A=CA1969340374MYBPC3c.2420T= (p.Ile807=)
c.2414-62T= (n.2414-62T=)
c.2402T= (p.Ile801=)
c.2339T= (p.Ile780=)
11g.47337573A>CCA380318537MYBPC3c.2420T>G (p.Ile807Ser)
c.2414-62T>G (n.2414-62T>G)
c.2402T>G (p.Ile801Ser)
c.2339T>G (p.Ile780Ser)
11g.47337573A>GCA380318539MYBPC3c.2420T>C (p.Ile807Thr)
c.2414-62T>C (n.2414-62T>C)
c.2402T>C (p.Ile801Thr)
c.2339T>C (p.Ile780Thr)
11g.47337573A>TCA380318541MYBPC3c.2420T>A (p.Ile807Asn)
c.2414-62T>A (n.2414-62T>A)
c.2402T>A (p.Ile801Asn)
c.2339T>A (p.Ile780Asn)
dbSNP gnomAD v4
11g.47337574T>ACA380318543MYBPC3c.2419A>T (p.Ile807Phe)
c.2414-63A>T (n.2414-63A>T)
c.2401A>T (p.Ile801Phe)
c.2338A>T (p.Ile780Phe)
gnomAD v4
11g.47337574T>CCA380318544MYBPC3c.2419A>G (p.Ile807Val)
c.2414-63A>G (n.2414-63A>G)
c.2401A>G (p.Ile801Val)
c.2338A>G (p.Ile780Val)
gnomAD v4
11g.47337574T>GCA380318542MYBPC3c.2419A>C (p.Ile807Leu)
c.2414-63A>C (n.2414-63A>C)
c.2401A>C (p.Ile801Leu)
c.2338A>C (p.Ile780Leu)
11g.47337575G>ACA474429369MYBPC3c.2418C>T (p.Tyr806=)
c.2414-64C>T (n.2414-64C>T)
c.2400C>T (p.Tyr800=)
c.2337C>T (p.Tyr779=)
dbSNP gnomAD v2 gnomAD v4
11g.47337575G>CCA380318546MYBPC3c.2418C>G (p.Tyr806Ter)
c.2414-64C>G (n.2414-64C>G)
c.2400C>G (p.Tyr800Ter)
c.2337C>G (p.Tyr779Ter)
11g.47337575G=CA1969340375MYBPC3c.2418C= (p.Tyr806=)
c.2414-64C= (n.2414-64C=)
c.2400C= (p.Tyr800=)
c.2337C= (p.Tyr779=)
11g.47337575G>TCA380318545MYBPC3c.2418C>A (p.Tyr806Ter)
c.2414-64C>A (n.2414-64C>A)
c.2400C>A (p.Tyr800Ter)
c.2337C>A (p.Tyr779Ter)
11g.47337576T>ACA380318547MYBPC3c.2417A>T (p.Tyr806Phe)
c.2414-65A>T (n.2414-65A>T)
c.2399A>T (p.Tyr800Phe)
c.2336A>T (p.Tyr779Phe)
11g.47337576T>CCA221688707MYBPC3c.2417A>G (p.Tyr806Cys)
c.2414-65A>G (n.2414-65A>G)
c.2399A>G (p.Tyr800Cys)
c.2336A>G (p.Tyr779Cys)
ClinVar dbSNP gnomAD v4
11g.47337576T>GCA380318548MYBPC3c.2417A>C (p.Tyr806Ser)
c.2414-65A>C (n.2414-65A>C)
c.2399A>C (p.Tyr800Ser)
c.2336A>C (p.Tyr779Ser)
11g.47337576T=CA1969340377MYBPC3c.2417A= (p.Tyr806=)
c.2414-65A= (n.2414-65A=)
c.2399A= (p.Tyr800=)
c.2336A= (p.Tyr779=)
11g.47337577A>CCA380318549MYBPC3c.2416T>G (p.Tyr806Asp)
c.2414-66T>G (n.2414-66T>G)
c.2398T>G (p.Tyr800Asp)
c.2335T>G (p.Tyr779Asp)
11g.47337577A>GCA380318550MYBPC3c.2416T>C (p.Tyr806His)
c.2414-66T>C (n.2414-66T>C)
c.2398T>C (p.Tyr800His)
c.2335T>C (p.Tyr779His)
11g.47337577A>TCA380318551MYBPC3c.2416T>A (p.Tyr806Asn)
c.2414-66T>A (n.2414-66T>A)
c.2398T>A (p.Tyr800Asn)
c.2335T>A (p.Tyr779Asn)
11g.47337577dupCA2739270435MYBPC3c.2416dup (p.Tyr806LeufsTer27)
c.2414-66dup (n.2414-66dup)
c.2398dup (p.Tyr800LeufsTer27)
c.2335dup (p.Tyr779LeufsTer27)

Number of alleles fetched