Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
11 | g.47337783C>A | CA380319134 | MYBPC3 | c.2320G>T (p.Ala774Ser) c.2302G>T (p.Ala768Ser) c.2239G>T (p.Ala747Ser) | |
11 | g.47337783C= | CA1969331619 | MYBPC3 | c.2320G= (p.Ala774=) c.2302G= (p.Ala768=) c.2239G= (p.Ala747=) | |
11 | g.47337783C>G | CA380319139 | MYBPC3 | c.2320G>C (p.Ala774Pro) c.2302G>C (p.Ala768Pro) c.2239G>C (p.Ala747Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47337783C>T | CA012113 | MYBPC3 | c.2320G>A (p.Ala774Thr) c.2302G>A (p.Ala768Thr) c.2239G>A (p.Ala747Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337784G>A | CA012107 | MYBPC3 | c.2319C>T (p.Asp773=) c.2301C>T (p.Asp767=) c.2238C>T (p.Asp746=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337784G>C | CA380319148 | MYBPC3 | c.2319C>G (p.Asp773Glu) c.2301C>G (p.Asp767Glu) c.2238C>G (p.Asp746Glu) | |
11 | g.47337784G= | CA1969331620 | MYBPC3 | c.2319C= (p.Asp773=) c.2301C= (p.Asp767=) c.2238C= (p.Asp746=) | |
11 | g.47337784G>T | CA380319163 | MYBPC3 | c.2319C>A (p.Asp773Glu) c.2301C>A (p.Asp767Glu) c.2238C>A (p.Asp746Glu) | |
11 | g.47337785T>A | CA380319168 | MYBPC3 | c.2318A>T (p.Asp773Val) c.2300A>T (p.Asp767Val) c.2237A>T (p.Asp746Val) | ClinVar dbSNP |
11 | g.47337785T>C | CA380319170 | MYBPC3 | c.2318A>G (p.Asp773Gly) c.2300A>G (p.Asp767Gly) c.2237A>G (p.Asp746Gly) | gnomAD v4 |
11 | g.47337785T>G | CA380319173 | MYBPC3 | c.2318A>C (p.Asp773Ala) c.2300A>C (p.Asp767Ala) c.2237A>C (p.Asp746Ala) | |
11 | g.47337786C>A | CA380319178 | MYBPC3 | c.2317G>T (p.Asp773Tyr) c.2299G>T (p.Asp767Tyr) c.2236G>T (p.Asp746Tyr) | gnomAD v4 |
11 | g.47337786C= | CA1969331621 | MYBPC3 | c.2317G= (p.Asp773=) c.2299G= (p.Asp767=) c.2236G= (p.Asp746=) | |
11 | g.47337786C>G | CA380319183 | MYBPC3 | c.2317G>C (p.Asp773His) c.2299G>C (p.Asp767His) c.2236G>C (p.Asp746His) | |
11 | g.47337786C>T | CA049293 | MYBPC3 | c.2317G>A (p.Asp773Asn) c.2299G>A (p.Asp767Asn) c.2236G>A (p.Asp746Asn) | dbSNP gnomAD v2 |
11 | g.47337787T>A | CA474216546 | MYBPC3 | c.2316A>T (p.Pro772=) c.2298A>T (p.Pro766=) c.2235A>T (p.Pro745=) | |
11 | g.47337787T>C | CA474216547 | MYBPC3 | c.2316A>G (p.Pro772=) c.2298A>G (p.Pro766=) c.2235A>G (p.Pro745=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47337787T>G | CA474216550 | MYBPC3 | c.2316A>C (p.Pro772=) c.2298A>C (p.Pro766=) c.2235A>C (p.Pro745=) | |
11 | g.47337787T= | CA1969331622 | MYBPC3 | c.2316A= (p.Pro772=) c.2298A= (p.Pro766=) c.2235A= (p.Pro745=) | |
11 | g.47337788G>A | CA380319188 | MYBPC3 | c.2315C>T (p.Pro772Leu) c.2297C>T (p.Pro766Leu) c.2234C>T (p.Pro745Leu) | |
11 | g.47337788G>C | CA380319191 | MYBPC3 | c.2315C>G (p.Pro772Arg) c.2297C>G (p.Pro766Arg) c.2234C>G (p.Pro745Arg) | gnomAD v4 |
11 | g.47337788G>T | CA380319194 | MYBPC3 | c.2315C>A (p.Pro772Gln) c.2297C>A (p.Pro766Gln) c.2234C>A (p.Pro745Gln) | |
11 | g.47337789G>A | CA380319199 | MYBPC3 | c.2314C>T (p.Pro772Ser) c.2296C>T (p.Pro766Ser) c.2233C>T (p.Pro745Ser) | gnomAD v4 |
11 | g.47337789G>C | CA380319200 | MYBPC3 | c.2314C>G (p.Pro772Ala) c.2296C>G (p.Pro766Ala) c.2233C>G (p.Pro745Ala) | dbSNP |
11 | g.47337789G= | CA1969331623 | MYBPC3 | c.2314C= (p.Pro772=) c.2296C= (p.Pro766=) c.2233C= (p.Pro745=) | |
11 | g.47337789G>T | CA380319204 | MYBPC3 | c.2314C>A (p.Pro772Thr) c.2296C>A (p.Pro766Thr) c.2233C>A (p.Pro745Thr) | |
11 | g.47337789_47337794del | CA2739291463 | MYBPC3 | c.2309_2314del (p.Asp770_Pro772delinsAla) c.2291_2296del (p.Asp764_Pro766delinsAla) c.2228_2233del (p.Asp743_Pro745delinsAla) | |
11 | g.47337790C>A | CA474216561 | MYBPC3 | c.2313G>T (p.Val771=) c.2295G>T (p.Val765=) c.2232G>T (p.Val744=) | gnomAD v4 |
11 | g.47337790C= | CA1969331624 | MYBPC3 | c.2313G= (p.Val771=) c.2295G= (p.Val765=) c.2232G= (p.Val744=) | |
11 | g.47337790C>G | CA474216563 | MYBPC3 | c.2313G>C (p.Val771=) c.2295G>C (p.Val765=) c.2232G>C (p.Val744=) | |
11 | g.47337790C>T | CA474216565 | MYBPC3 | c.2313G>A (p.Val771=) c.2295G>A (p.Val765=) c.2232G>A (p.Val744=) | dbSNP gnomAD v4 |
11 | g.47337791A= | CA1969331625 | MYBPC3 | c.2312T= (p.Val771=) c.2294T= (p.Val765=) c.2231T= (p.Val744=) | |
11 | g.47337791A>C | CA380319210 | MYBPC3 | c.2312T>G (p.Val771Gly) c.2294T>G (p.Val765Gly) c.2231T>G (p.Val744Gly) | |
11 | g.47337791A>G | CA012096 | MYBPC3 | c.2312T>C (p.Val771Ala) c.2294T>C (p.Val765Ala) c.2231T>C (p.Val744Ala) | ClinVar dbSNP |
11 | g.47337791A>T | CA380319215 | MYBPC3 | c.2312T>A (p.Val771Glu) c.2294T>A (p.Val765Glu) c.2231T>A (p.Val744Glu) | |
11 | g.47337792C>A | CA380319231 | MYBPC3 | c.2311G>T (p.Val771Leu) c.2293G>T (p.Val765Leu) c.2230G>T (p.Val744Leu) | gnomAD v4 |