Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47337773dup | CA1969331610 | MYBPC3 | c.2334dup (p.Lys779GlnfsTer?) c.2334dup (p.Lys779GlnfsTer29) c.2316dup (p.Lys773GlnfsTer?) c.2253dup (p.Lys752GlnfsTer?) | ClinVar dbSNP |
11 | g.47337773del | CA16042829 | MYBPC3 | c.2334del (p.Lys779ArgfsTer?) c.2316del (p.Lys773ArgfsTer?) c.2253del (p.Lys752ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
11 | g.47337771_47337773del | CA2613392572 | MYBPC3 | c.2332_2334del (p.Pro778del) c.2314_2316del (p.Pro772del) c.2251_2253del (p.Pro751del) | gnomAD v4 |
11 | g.47337770G>A | CA380319044 | MYBPC3 | c.2333C>T (p.Pro778Leu) c.2315C>T (p.Pro772Leu) c.2252C>T (p.Pro751Leu) | dbSNP gnomAD v2 |
11 | g.47337770G>C | CA380319045 | MYBPC3 | c.2333C>G (p.Pro778Arg) c.2315C>G (p.Pro772Arg) c.2252C>G (p.Pro751Arg) | |
11 | g.47337770G= | CA1969331612 | MYBPC3 | c.2333C= (p.Pro778=) c.2315C= (p.Pro772=) c.2252C= (p.Pro751=) | |
11 | g.47337770G>T | CA380319048 | MYBPC3 | c.2333C>A (p.Pro778His) c.2315C>A (p.Pro772His) c.2252C>A (p.Pro751His) | gnomAD v4 |
11 | g.47337771G>A | CA380319054 | MYBPC3 | c.2332C>T (p.Pro778Ser) c.2314C>T (p.Pro772Ser) c.2251C>T (p.Pro751Ser) | gnomAD v4 |
11 | g.47337771G>C | CA380319049 | MYBPC3 | c.2332C>G (p.Pro778Ala) c.2314C>G (p.Pro772Ala) c.2251C>G (p.Pro751Ala) | |
11 | g.47337771G>T | CA380319051 | MYBPC3 | c.2332C>A (p.Pro778Thr) c.2314C>A (p.Pro772Thr) c.2251C>A (p.Pro751Thr) | gnomAD v4 |
11 | g.47337772G>A | CA474216477 | MYBPC3 | c.2331C>T (p.Ala777=) c.2313C>T (p.Ala771=) c.2250C>T (p.Ala750=) | |
11 | g.47337772G>C | CA474216479 | MYBPC3 | c.2331C>G (p.Ala777=) c.2313C>G (p.Ala771=) c.2250C>G (p.Ala750=) | |
11 | g.47337772G>T | CA474216481 | MYBPC3 | c.2331C>A (p.Ala777=) c.2313C>A (p.Ala771=) c.2250C>A (p.Ala750=) | gnomAD v4 |
11 | g.47337773G>A | CA078651 | MYBPC3 | c.2330C>T (p.Ala777Val) c.2312C>T (p.Ala771Val) c.2249C>T (p.Ala750Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337773G>C | CA380319058 | MYBPC3 | c.2330C>G (p.Ala777Gly) c.2312C>G (p.Ala771Gly) c.2249C>G (p.Ala750Gly) | |
11 | g.47337773G= | CA1969331613 | MYBPC3 | c.2330C= (p.Ala777=) c.2312C= (p.Ala771=) c.2249C= (p.Ala750=) | |
11 | g.47337773G>T | CA380319062 | MYBPC3 | c.2330C>A (p.Ala777Asp) c.2312C>A (p.Ala771Asp) c.2249C>A (p.Ala750Asp) | gnomAD v4 |
11 | g.47337774C>A | CA380319066 | MYBPC3 | c.2329G>T (p.Ala777Ser) c.2311G>T (p.Ala771Ser) c.2248G>T (p.Ala750Ser) | gnomAD v4 |
11 | g.47337774C>G | CA380319069 | MYBPC3 | c.2329G>C (p.Ala777Pro) c.2311G>C (p.Ala771Pro) c.2248G>C (p.Ala750Pro) | gnomAD v4 |
11 | g.47337774C>T | CA380319072 | MYBPC3 | c.2329G>A (p.Ala777Thr) c.2311G>A (p.Ala771Thr) c.2248G>A (p.Ala750Thr) | dbSNP |
11 | g.47337775dup | CA2573051240 | MYBPC3 | c.2329dup (p.Ala777GlyfsTer?) c.2311dup (p.Ala771GlyfsTer?) c.2248dup (p.Ala750GlyfsTer?) | |
11 | g.47337775C>A | CA474216491 | MYBPC3 | c.2328G>T (p.Ala776=) c.2310G>T (p.Ala770=) c.2247G>T (p.Ala749=) | gnomAD v4 |
11 | g.47337775C= | CA1969331614 | MYBPC3 | c.2328G= (p.Ala776=) c.2310G= (p.Ala770=) c.2247G= (p.Ala749=) | |
11 | g.47337775C>G | CA474216493 | MYBPC3 | c.2328G>C (p.Ala776=) c.2310G>C (p.Ala770=) c.2247G>C (p.Ala749=) | |
11 | g.47337775C>T | CA474216495 | MYBPC3 | c.2328G>A (p.Ala776=) c.2310G>A (p.Ala770=) c.2247G>A (p.Ala749=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337776G>A | CA049319 | MYBPC3 | c.2327C>T (p.Ala776Val) c.2309C>T (p.Ala770Val) c.2246C>T (p.Ala749Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337776G>C | CA380319085 | MYBPC3 | c.2327C>G (p.Ala776Gly) c.2309C>G (p.Ala770Gly) c.2246C>G (p.Ala749Gly) | |
11 | g.47337776G= | CA1969331615 | MYBPC3 | c.2327C= (p.Ala776=) c.2309C= (p.Ala770=) c.2246C= (p.Ala749=) | |
11 | g.47337776G>T | CA380319089 | MYBPC3 | c.2327C>A (p.Ala776Glu) c.2309C>A (p.Ala770Glu) c.2246C>A (p.Ala749Glu) | gnomAD v4 |
11 | g.47337777C>A | CA380319093 | MYBPC3 | c.2326G>T (p.Ala776Ser) c.2308G>T (p.Ala770Ser) c.2245G>T (p.Ala749Ser) | gnomAD v4 |
11 | g.47337777C= | CA1969331616 | MYBPC3 | c.2326G= (p.Ala776=) c.2308G= (p.Ala770=) c.2245G= (p.Ala749=) | |
11 | g.47337777C>G | CA380319095 | MYBPC3 | c.2326G>C (p.Ala776Pro) c.2308G>C (p.Ala770Pro) c.2245G>C (p.Ala749Pro) | |
11 | g.47337777C>T | CA380319099 | MYBPC3 | c.2326G>A (p.Ala776Thr) c.2308G>A (p.Ala770Thr) c.2245G>A (p.Ala749Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47337778A>C | CA474216506 | MYBPC3 | c.2325T>G (p.Pro775=) c.2307T>G (p.Pro769=) c.2244T>G (p.Pro748=) | |
11 | g.47337778A>G | CA474216510 | MYBPC3 | c.2325T>C (p.Pro775=) c.2307T>C (p.Pro769=) c.2244T>C (p.Pro748=) | gnomAD v4 |
11 | g.47337778A>T | CA474216508 | MYBPC3 | c.2325T>A (p.Pro775=) c.2307T>A (p.Pro769=) c.2244T>A (p.Pro748=) | gnomAD v4 |
11 | g.47337779G>A | CA380319110 | MYBPC3 | c.2324C>T (p.Pro775Leu) c.2306C>T (p.Pro769Leu) c.2243C>T (p.Pro748Leu) | gnomAD v4 |
11 | g.47337779G>C | CA012122 | MYBPC3 | c.2324C>G (p.Pro775Arg) c.2306C>G (p.Pro769Arg) c.2243C>G (p.Pro748Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.47337779G= | CA1969331617 | MYBPC3 | c.2324C= (p.Pro775=) c.2306C= (p.Pro769=) c.2243C= (p.Pro748=) | |
11 | g.47337779G>T | CA380319105 | MYBPC3 | c.2324C>A (p.Pro775His) c.2306C>A (p.Pro769His) c.2243C>A (p.Pro748His) | gnomAD v4 |
11 | g.47337780G>A | CA380319115 | MYBPC3 | c.2323C>T (p.Pro775Ser) c.2305C>T (p.Pro769Ser) c.2242C>T (p.Pro748Ser) | gnomAD v4 |
11 | g.47337780G>C | CA380319122 | MYBPC3 | c.2323C>G (p.Pro775Ala) c.2305C>G (p.Pro769Ala) c.2242C>G (p.Pro748Ala) | |
11 | g.47337780G>T | CA380319118 | MYBPC3 | c.2323C>A (p.Pro775Thr) c.2305C>A (p.Pro769Thr) c.2242C>A (p.Pro748Thr) | gnomAD v4 |
11 | g.47337781T>A | CA474216515 | MYBPC3 | c.2322A>T (p.Ala774=) c.2304A>T (p.Ala768=) c.2241A>T (p.Ala747=) | |
11 | g.47337781T>C | CA474216517 | MYBPC3 | c.2322A>G (p.Ala774=) c.2304A>G (p.Ala768=) c.2241A>G (p.Ala747=) | gnomAD v4 |
11 | g.47337781T>G | CA474216519 | MYBPC3 | c.2322A>C (p.Ala774=) c.2304A>C (p.Ala768=) c.2241A>C (p.Ala747=) | |
11 | g.47337782G>A | CA380319125 | MYBPC3 | c.2321C>T (p.Ala774Val) c.2303C>T (p.Ala768Val) c.2240C>T (p.Ala747Val) | ClinVar dbSNP gnomAD v4 |
11 | g.47337782G>C | CA380319128 | MYBPC3 | c.2321C>G (p.Ala774Gly) c.2303C>G (p.Ala768Gly) c.2240C>G (p.Ala747Gly) | |
11 | g.47337782G= | CA1969331618 | MYBPC3 | c.2321C= (p.Ala774=) c.2303C= (p.Ala768=) c.2240C= (p.Ala747=) | |
11 | g.47337782G>T | CA380319130 | MYBPC3 | c.2321C>A (p.Ala774Glu) c.2303C>A (p.Ala768Glu) c.2240C>A (p.Ala747Glu) | gnomAD v4 |