Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47347902dup | CA2613394591 | MYBPC3 | c.777dup (p.Met260HisfsTer26) | gnomAD v4 |
11 | g.47347902G>A | CA221702723 | MYBPC3 | c.776C>T (p.Ala259Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47347902G>C | CA380333986 | MYBPC3 | c.776C>G (p.Ala259Gly) | ClinVar dbSNP |
11 | g.47347902G= | CA1969340650 | MYBPC3 | c.776C= (p.Ala259=) | |
11 | g.47347902G>T | CA380333988 | MYBPC3 | c.776C>A (p.Ala259Asp) | gnomAD v4 |
11 | g.47347902delinsAA | CA2695213943 | MYBPC3 | c.776delinsTT (p.Ala259ValfsTer27) | |
11 | g.47347903C>A | CA380333990 | MYBPC3 | c.775G>T (p.Ala259Ser) | gnomAD v4 |
11 | g.47347903C>G | CA380333992 | MYBPC3 | c.775G>C (p.Ala259Pro) | |
11 | g.47347903C>T | CA380333994 | MYBPC3 | c.775G>A (p.Ala259Thr) | gnomAD v4 |
11 | g.47347904del | CA2580084211 | MYBPC3 | c.775del (p.Ala259ProfsTer?) | ClinVar |
11 | g.47347904C>A | CA380333996 | MYBPC3 | c.774G>T (p.Glu258Asp) | gnomAD v4 |
11 | g.47347904C= | CA1969340651 | MYBPC3 | c.774G= (p.Glu258=) | |
11 | g.47347904C>G | CA380333997 | MYBPC3 | c.774G>C (p.Glu258Asp) | |
11 | g.47347904C>T | CA474221332 | MYBPC3 | c.774G>A (p.Glu258=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47347905T>A | CA380334000 | MYBPC3 | c.773A>T (p.Glu258Val) | gnomAD v4 |
11 | g.47347905T>C | CA380334002 | MYBPC3 | c.773A>G (p.Glu258Gly) | gnomAD v4 |
11 | g.47347905T>G | CA380333999 | MYBPC3 | c.773A>C (p.Glu258Ala) | |
11 | g.47347905_47347912dup | CA2580084212 | MYBPC3 | c.773-7_773dup | ClinVar |
11 | g.47347906C>A | CA380334004 | MYBPC3 | c.773-1G>T (n.773-1G>T) | gnomAD v4 |
11 | g.47347906C>G | CA380334005 | MYBPC3 | c.773-1G>C (n.773-1G>C) | ClinVar dbSNP gnomAD v4 |
11 | g.47347906C>T | CA380334013 | MYBPC3 | c.773-1G>A (n.773-1G>A) | |
11 | g.47347907T>A | CA380334016 | MYBPC3 | c.773-2A>T (n.773-2A>T) | ClinVar dbSNP |
11 | g.47347907T>C | CA380334018 | MYBPC3 | c.773-2A>G (n.773-2A>G) | gnomAD v4 |
11 | g.47347907T>G | CA380334019 | MYBPC3 | c.773-2A>C (n.773-2A>C) | |
11 | g.47347907T= | CA1969340652 | MYBPC3 | c.773-2A= (n.773-2A=) | |
11 | g.47347908G>A | CA2613394613 | MYBPC3 | c.773-3C>T (n.773-3C>T) | gnomAD v4 |
11 | g.47347908G>T | CA2613394612 | MYBPC3 | c.773-3C>A (n.773-3C>A) | gnomAD v4 |
11 | g.47347909G>A | CA2573147269 | MYBPC3 | c.773-4C>T (n.773-4C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.47347909G>C | CA2613394617 | MYBPC3 | c.773-4C>G (n.773-4C>G) | gnomAD v4 |
11 | g.47347909G>T | CA2574815892 | MYBPC3 | c.773-4C>A (n.773-4C>A) | ClinVar gnomAD v4 |
11 | g.47347910G>A | CA599059945 | MYBPC3 | c.773-5C>T (n.773-5C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47347910G= | CA1969340653 | MYBPC3 | c.773-5C= (n.773-5C=) | |
11 | g.47347910G>T | CA2613394620 | MYBPC3 | c.773-5C>A (n.773-5C>A) | gnomAD v4 |
11 | g.47347911T>A | CA221702728 | MYBPC3 | c.773-6A>T (n.773-6A>T) | dbSNP |
11 | g.47347911T>C | CA2613394623 | MYBPC3 | c.773-6A>G (n.773-6A>G) | gnomAD v4 |
11 | g.47347911T= | CA1969340654 | MYBPC3 | c.773-6A= (n.773-6A=) | |
11 | g.47347912T>C | CA2613394625 | MYBPC3 | c.773-7A>G (n.773-7A>G) | gnomAD v4 |
11 | g.47347913C>A | CA2613394627 | MYBPC3 | c.773-8G>T (n.773-8G>T) | gnomAD v4 |
11 | g.47347913C= | CA1969340655 | MYBPC3 | c.773-8G= (n.773-8G=) | |
11 | g.47347914A>G | CA2613394634 | MYBPC3 | c.773-9T>C (n.773-9T>C) | gnomAD v4 |
11 | g.47347915_47347916dup | CA1139661940 | MYBPC3 | c.773-10_773-9dup (n.773-10_773-9dup) | ClinVar dbSNP gnomAD v4 |
11 | g.47347916del | CA2613394633 | MYBPC3 | c.773-9del (n.773-9del) | gnomAD v4 |
11 | g.47347915A= | CA1969340656 | MYBPC3 | c.773-10T= (n.773-10T=) | |
11 | g.47347915A>G | CA599059947 | MYBPC3 | c.773-10T>C (n.773-10T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47347915A>T | CA2723764053 | MYBPC3 | c.773-10T>A (n.773-10T>A) | dbSNP |
11 | g.47347916A>G | CA2613394641 | MYBPC3 | c.773-11T>C (n.773-11T>C) | gnomAD v4 |
11 | g.47347916A>T | CA2613394639 | MYBPC3 | c.773-11T>A (n.773-11T>A) | gnomAD v4 |
11 | g.47347916_47347917delinsAG | CA1969340657 | MYBPC3 | c.773-12_773-11delinsCT (n.773-12_773-11delinsCT) | |
11 | g.47347916_47347928delinsAGGGTGGAGAGAT | CA1969340658 | MYBPC3 | c.773-23_773-11delinsATCTCTCCACCCT (n.773-23_773-11delinsATCTCTCCACCCT) | |
11 | g.47347917G>A | CA2613394643 | MYBPC3 | c.773-12C>T (n.773-12C>T) | gnomAD v4 |