| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47339747_47339758delinsA | CA2580084202 | MYBPC3 | c.1960_1971delinsT (p.Arg654TyrfsTer9) c.1942_1953delinsT (p.Arg648TyrfsTer9) | ClinVar |
| 11 | g.47339756_47339761del | CA2613395904 | MYBPC3 | c.1957_1962del (p.Gly653_Arg654del) c.1939_1944del (p.Gly647_Arg648del) | gnomAD v4 |
| 11 | g.47339757C>A | CA380321909 | MYBPC3 | c.1961G>T (p.Arg654Leu) c.1943G>T (p.Arg648Leu) | |
| 11 | g.47339757C= | CA1969333489 | MYBPC3 | c.1961G= (p.Arg654=) c.1943G= (p.Arg648=) | |
| 11 | g.47339757C>G | CA380321912 | MYBPC3 | c.1961G>C (p.Arg654Pro) c.1943G>C (p.Arg648Pro) | |
| 11 | g.47339757C>T | CA011565 | MYBPC3 | c.1961G>A (p.Arg654His) c.1943G>A (p.Arg648His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339758G>A | CA011557 | MYBPC3 | c.1960C>T (p.Arg654Cys) c.1942C>T (p.Arg648Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47339758G>C | CA011549 | MYBPC3 | c.1960C>G (p.Arg654Gly) c.1942C>G (p.Arg648Gly) | ClinVar dbSNP |
| 11 | g.47339758G= | CA1969333492 | MYBPC3 | c.1960C= (p.Arg654=) c.1942C= (p.Arg648=) | |
| 11 | g.47339758G>T | CA380321917 | MYBPC3 | c.1960C>A (p.Arg654Ser) c.1942C>A (p.Arg648Ser) | |
| 11 | g.47339759dup | CA2697548572 | MYBPC3 | c.1960dup (p.Arg654ProfsTer13) c.1942dup (p.Arg648ProfsTer13) | ClinVar |
| 11 | g.47339759G>A | CA474217940 | MYBPC3 | c.1959C>T (p.Gly653=) c.1941C>T (p.Gly647=) | gnomAD v4 |
| 11 | g.47339759G>C | CA474217938 | MYBPC3 | c.1959C>G (p.Gly653=) c.1941C>G (p.Gly647=) | |
| 11 | g.47339759G>T | CA474217939 | MYBPC3 | c.1959C>A (p.Gly653=) c.1941C>A (p.Gly647=) | gnomAD v4 |
| 11 | g.47339760C>A | CA380321925 | MYBPC3 | c.1958G>T (p.Gly653Val) c.1940G>T (p.Gly647Val) | |
| 11 | g.47339760C= | CA1969333495 | MYBPC3 | c.1958G= (p.Gly653=) c.1940G= (p.Gly647=) | |
| 11 | g.47339760C>G | CA380321927 | MYBPC3 | c.1958G>C (p.Gly653Ala) c.1940G>C (p.Gly647Ala) | gnomAD v4 |
| 11 | g.47339760C>T | CA221691283 | MYBPC3 | c.1958G>A (p.Gly653Asp) c.1940G>A (p.Gly647Asp) | ClinVar dbSNP |
| 11 | g.47339761C>A | CA380321931 | MYBPC3 | c.1957G>T (p.Gly653Cys) c.1939G>T (p.Gly647Cys) | |
| 11 | g.47339761C>G | CA380321935 | MYBPC3 | c.1957G>C (p.Gly653Arg) c.1939G>C (p.Gly647Arg) | |
| 11 | g.47339761C>T | CA380321938 | MYBPC3 | c.1957G>A (p.Gly653Ser) c.1939G>A (p.Gly647Ser) | |
| 11 | g.47339762T>A | CA474217941 | MYBPC3 | c.1956A>T (p.Pro652=) c.1938A>T (p.Pro646=) | |
| 11 | g.47339762T>C | CA474217943 | MYBPC3 | c.1956A>G (p.Pro652=) c.1938A>G (p.Pro646=) | |
| 11 | g.47339762T>G | CA474217942 | MYBPC3 | c.1956A>C (p.Pro652=) c.1938A>C (p.Pro646=) | |
| 11 | g.47339763G>A | CA380321940 | MYBPC3 | c.1955C>T (p.Pro652Leu) c.1937C>T (p.Pro646Leu) | |
| 11 | g.47339763G>C | CA078449 | MYBPC3 | c.1955C>G (p.Pro652Arg) c.1937C>G (p.Pro646Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339763G= | CA1969333496 | MYBPC3 | c.1955C= (p.Pro652=) c.1937C= (p.Pro646=) | |
| 11 | g.47339763G>T | CA380321944 | MYBPC3 | c.1955C>A (p.Pro652Gln) c.1937C>A (p.Pro646Gln) | |
| 11 | g.47339764G>A | CA380321950 | MYBPC3 | c.1954C>T (p.Pro652Ser) c.1936C>T (p.Pro646Ser) | dbSNP gnomAD v2 |
| 11 | g.47339764G>C | CA380321952 | MYBPC3 | c.1954C>G (p.Pro652Ala) c.1936C>G (p.Pro646Ala) | |
| 11 | g.47339764G= | CA1969333498 | MYBPC3 | c.1954C= (p.Pro652=) c.1936C= (p.Pro646=) | |
| 11 | g.47339764G>T | CA380321955 | MYBPC3 | c.1954C>A (p.Pro652Thr) c.1936C>A (p.Pro646Thr) | |
| 11 | g.47339765G>A | CA221691286 | MYBPC3 | c.1953C>T (p.Cys651=) c.1935C>T (p.Cys645=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47339765G>C | CA380321959 | MYBPC3 | c.1953C>G (p.Cys651Trp) c.1935C>G (p.Cys645Trp) | |
| 11 | g.47339765G= | CA1969333499 | MYBPC3 | c.1953C= (p.Cys651=) c.1935C= (p.Cys645=) | |
| 11 | g.47339765G>T | CA380321962 | MYBPC3 | c.1953C>A (p.Cys651Ter) c.1935C>A (p.Cys645Ter) | ClinVar dbSNP |
| 11 | g.47339766C>A | CA380321966 | MYBPC3 | c.1952G>T (p.Cys651Phe) c.1934G>T (p.Cys645Phe) | dbSNP gnomAD v4 |
| 11 | g.47339766C= | CA1969333501 | MYBPC3 | c.1952G= (p.Cys651=) c.1934G= (p.Cys645=) | |
| 11 | g.47339766C>G | CA380321968 | MYBPC3 | c.1952G>C (p.Cys651Ser) c.1934G>C (p.Cys645Ser) | |
| 11 | g.47339766C>T | CA380321971 | MYBPC3 | c.1952G>A (p.Cys651Tyr) c.1934G>A (p.Cys645Tyr) | |
| 11 | g.47339767A>C | CA380321974 | MYBPC3 | c.1951T>G (p.Cys651Gly) c.1933T>G (p.Cys645Gly) | |
| 11 | g.47339767A>G | CA380321976 | MYBPC3 | c.1951T>C (p.Cys651Arg) c.1933T>C (p.Cys645Arg) | |
| 11 | g.47339767A>T | CA380321978 | MYBPC3 | c.1951T>A (p.Cys651Ser) c.1933T>A (p.Cys645Ser) | |
| 11 | g.47339768del | CA2580084204 | MYBPC3 | c.1950del (p.Cys651AlafsTer12) c.1932del (p.Cys645AlafsTer12) | ClinVar |
| 11 | g.47339768G>A | CA474217944 | MYBPC3 | c.1950C>T (p.Asp650=) c.1932C>T (p.Asp644=) | |
| 11 | g.47339768G>C | CA011540 | MYBPC3 | c.1950C>G (p.Asp650Glu) c.1932C>G (p.Asp644Glu) | ClinVar dbSNP |
| 11 | g.47339768G= | CA1969333502 | MYBPC3 | c.1950C= (p.Asp650=) c.1932C= (p.Asp644=) | |
| 11 | g.47339768G>T | CA380321982 | MYBPC3 | c.1950C>A (p.Asp650Glu) c.1932C>A (p.Asp644Glu) | |
| 11 | g.47339769T>A | CA380321986 | MYBPC3 | c.1949A>T (p.Asp650Val) c.1931A>T (p.Asp644Val) | |
| 11 | g.47339769T>C | CA380321989 | MYBPC3 | c.1949A>G (p.Asp650Gly) c.1931A>G (p.Asp644Gly) | gnomAD v4 |