Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.15750228C>A | CA493792866 | MYH11 | c.1968G>T (p.Leu656=) c.1989G>T (p.Leu663=) c.*151G>T (n.*151G>T) n.2390G>T | |
16 | g.15750228C= | CA2209930431 | MYH11 | c.1968G= (p.Leu656=) c.1989G= (p.Leu663=) c.*151G= (n.*151G=) n.2390G= | |
16 | g.15750228C>G | CA493792867 | MYH11 | c.1968G>C (p.Leu656=) c.1989G>C (p.Leu663=) c.*151G>C (n.*151G>C) n.2390G>C | |
16 | g.15750228C>T | CA7922461 | MYH11 | c.1968G>A (p.Leu656=) c.1989G>A (p.Leu663=) c.*151G>A (n.*151G>A) n.2390G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.15750229A>C | CA394869015 | MYH11 | c.1967T>G (p.Leu656Arg) c.1988T>G (p.Leu663Arg) c.*150T>G (n.*150T>G) n.2389T>G | |
16 | g.15750229A>G | CA394869016 | MYH11 | c.1967T>C (p.Leu656Pro) c.1988T>C (p.Leu663Pro) c.*150T>C (n.*150T>C) n.2389T>C | |
16 | g.15750229A>T | CA394869017 | MYH11 | c.1967T>A (p.Leu656Gln) c.1988T>A (p.Leu663Gln) c.*150T>A (n.*150T>A) n.2389T>A | |
16 | g.15750230G>A | CA493792871 | MYH11 | c.1966C>T (p.Leu656=) c.1987C>T (p.Leu663=) c.*149C>T (n.*149C>T) n.2388C>T | dbSNP gnomAD v4 |
16 | g.15750230G>C | CA394869018 | MYH11 | c.1966C>G (p.Leu656Val) c.1987C>G (p.Leu663Val) c.*149C>G (n.*149C>G) n.2388C>G | |
16 | g.15750230G= | CA2209930432 | MYH11 | c.1966C= (p.Leu656=) c.1987C= (p.Leu663=) c.*149C= (n.*149C=) n.2388C= | |
16 | g.15750230G>T | CA394869019 | MYH11 | c.1966C>A (p.Leu656Met) c.1987C>A (p.Leu663Met) c.*149C>A (n.*149C>A) n.2388C>A | |
16 | g.15750231C>A | CA394869020 | MYH11 | c.1965G>T (p.Gln655His) c.1986G>T (p.Gln662His) c.*148G>T (n.*148G>T) n.2387G>T | ClinVar dbSNP gnomAD v4 |
16 | g.15750231C= | CA2209930433 | MYH11 | c.1965G= (p.Gln655=) c.1986G= (p.Gln662=) c.*148G= (n.*148G=) n.2387G= | |
16 | g.15750231C>G | CA394869021 | MYH11 | c.1965G>C (p.Gln655His) c.1986G>C (p.Gln662His) c.*148G>C (n.*148G>C) n.2387G>C | |
16 | g.15750231C>T | CA493792872 | MYH11 | c.1965G>A (p.Gln655=) c.1986G>A (p.Gln662=) c.*148G>A (n.*148G>A) n.2387G>A | |
16 | g.15750232T>A | CA394869022 | MYH11 | c.1964A>T (p.Gln655Leu) c.1985A>T (p.Gln662Leu) c.*147A>T (n.*147A>T) n.2386A>T | |
16 | g.15750232T>C | CA394869023 | MYH11 | c.1964A>G (p.Gln655Arg) c.1985A>G (p.Gln662Arg) c.*147A>G (n.*147A>G) n.2386A>G | |
16 | g.15750232T>G | CA7922462 | MYH11 | c.1964A>C (p.Gln655Pro) c.1985A>C (p.Gln662Pro) c.*147A>C (n.*147A>C) n.2386A>C | dbSNP ExAC gnomAD v2 |
16 | g.15750232T= | CA2209930434 | MYH11 | c.1964A= (p.Gln655=) c.1985A= (p.Gln662=) c.*147A= (n.*147A=) n.2386A= | |
16 | g.15750233G>A | CA394869024 | MYH11 | c.1963C>T (p.Gln655Ter) c.1984C>T (p.Gln662Ter) c.*146C>T (n.*146C>T) n.2385C>T | |
16 | g.15750233G>C | CA394869025 | MYH11 | c.1963C>G (p.Gln655Glu) c.1984C>G (p.Gln662Glu) c.*146C>G (n.*146C>G) n.2385C>G | |
16 | g.15750233G>T | CA394869026 | MYH11 | c.1963C>A (p.Gln655Lys) c.1984C>A (p.Gln662Lys) c.*146C>A (n.*146C>A) n.2385C>A | |
16 | g.15750234C>A | CA493792874 | MYH11 | c.1962G>T (p.Gly654=) c.1983G>T (p.Gly661=) c.*145G>T (n.*145G>T) n.2384G>T | |
16 | g.15750234C>G | CA493792875 | MYH11 | c.1962G>C (p.Gly654=) c.1983G>C (p.Gly661=) c.*145G>C (n.*145G>C) n.2384G>C | |
16 | g.15750234C>T | CA493792876 | MYH11 | c.1962G>A (p.Gly654=) c.1983G>A (p.Gly661=) c.*145G>A (n.*145G>A) n.2384G>A | |
16 | g.15750237dup | CA2838314401 | MYH11 | c.1962dup (p.Gln655AlafsTer?) c.1983dup (p.Gln662AlafsTer?) c.*145dup (n.*145dup) n.2384dup | |
16 | g.15750235C>A | CA394869027 | MYH11 | c.1961G>T (p.Gly654Val) c.1982G>T (p.Gly661Val) c.*144G>T (n.*144G>T) n.2383G>T | |
16 | g.15750235C>G | CA394869028 | MYH11 | c.1961G>C (p.Gly654Ala) c.1982G>C (p.Gly661Ala) c.*144G>C (n.*144G>C) n.2383G>C | |
16 | g.15750235C>T | CA394869029 | MYH11 | c.1961G>A (p.Gly654Glu) c.1982G>A (p.Gly661Glu) c.*144G>A (n.*144G>A) n.2383G>A | |
16 | g.15750236C>A | CA394869030 | MYH11 | c.1960G>T (p.Gly654Trp) c.1981G>T (p.Gly661Trp) c.*143G>T (n.*143G>T) n.2382G>T | dbSNP gnomAD v4 |
16 | g.15750236C= | CA2209930435 | MYH11 | c.1960G= (p.Gly654=) c.1981G= (p.Gly661=) c.*143G= (n.*143G=) n.2382G= | |
16 | g.15750236C>G | CA394869031 | MYH11 | c.1960G>C (p.Gly654Arg) c.1981G>C (p.Gly661Arg) c.*143G>C (n.*143G>C) n.2382G>C | |
16 | g.15750236C>T | CA394869032 | MYH11 | c.1960G>A (p.Gly654Arg) c.1981G>A (p.Gly661Arg) c.*143G>A (n.*143G>A) n.2382G>A | |
16 | g.15750237C>A | CA493792881 | MYH11 | c.1959G>T (p.Val653=) c.1980G>T (p.Val660=) c.*142G>T (n.*142G>T) n.2381G>T | |
16 | g.15750237C>G | CA493792880 | MYH11 | c.1959G>C (p.Val653=) c.1980G>C (p.Val660=) c.*142G>C (n.*142G>C) n.2381G>C | |
16 | g.15750237C>T | CA493792879 | MYH11 | c.1959G>A (p.Val653=) c.1980G>A (p.Val660=) c.*142G>A (n.*142G>A) n.2381G>A | gnomAD v4 |
16 | g.15750238A= | CA2209930436 | MYH11 | c.1958T= (p.Val653=) c.1979T= (p.Val660=) c.*141T= (n.*141T=) n.2380T= | |
16 | g.15750238A>C | CA394869033 | MYH11 | c.1958T>G (p.Val653Gly) c.1979T>G (p.Val660Gly) c.*141T>G (n.*141T>G) n.2380T>G | |
16 | g.15750238A>G | CA394869034 | MYH11 | c.1958T>C (p.Val653Ala) c.1979T>C (p.Val660Ala) c.*141T>C (n.*141T>C) n.2380T>C | dbSNP |
16 | g.15750238A>T | CA394869035 | MYH11 | c.1958T>A (p.Val653Glu) c.1979T>A (p.Val660Glu) c.*141T>A (n.*141T>A) n.2380T>A | |
16 | g.15750239C>A | CA394869036 | MYH11 | c.1957G>T (p.Val653Leu) c.1978G>T (p.Val660Leu) c.*140G>T (n.*140G>T) n.2379G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.15750239C= | CA2209930437 | MYH11 | c.1957G= (p.Val653=) c.1978G= (p.Val660=) c.*140G= (n.*140G=) n.2379G= | |
16 | g.15750239C>G | CA394869038 | MYH11 | c.1957G>C (p.Val653Leu) c.1978G>C (p.Val660Leu) c.*140G>C (n.*140G>C) n.2379G>C | |
16 | g.15750239C>T | CA394869037 | MYH11 | c.1957G>A (p.Val653Met) c.1978G>A (p.Val660Met) c.*140G>A (n.*140G>A) n.2379G>A | |
16 | g.15750240T>A | CA493792885 | MYH11 | c.1956A>T (p.Thr652=) c.1977A>T (p.Thr659=) c.*139A>T (n.*139A>T) n.2378A>T | |
16 | g.15750240T>C | CA7922463 | MYH11 | c.1956A>G (p.Thr652=) c.1977A>G (p.Thr659=) c.*139A>G (n.*139A>G) n.2378A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.15750240T>G | CA493792886 | MYH11 | c.1956A>C (p.Thr652=) c.1977A>C (p.Thr659=) c.*139A>C (n.*139A>C) n.2378A>C | gnomAD v4 |
16 | g.15750240T= | CA2209930438 | MYH11 | c.1956A= (p.Thr652=) c.1977A= (p.Thr659=) c.*139A= (n.*139A=) n.2378A= | |
16 | g.15750241G>A | CA394869039 | MYH11 | c.1955C>T (p.Thr652Ile) c.1976C>T (p.Thr659Ile) c.*138C>T (n.*138C>T) n.2377C>T | |
16 | g.15750241G>C | CA394869040 | MYH11 | c.1955C>G (p.Thr652Arg) c.1976C>G (p.Thr659Arg) c.*138C>G (n.*138C>G) n.2377C>G | |
16 | g.15750241G>T | CA394869041 | MYH11 | c.1955C>A (p.Thr652Lys) c.1976C>A (p.Thr659Lys) c.*138C>A (n.*138C>A) n.2377C>A | |
16 | g.15750242T>A | CA394869042 | MYH11 | c.1954A>T (p.Thr652Ser) c.1975A>T (p.Thr659Ser) c.*137A>T (n.*137A>T) n.2376A>T | |
16 | g.15750242T>C | CA394869043 | MYH11 | c.1954A>G (p.Thr652Ala) c.1975A>G (p.Thr659Ala) c.*137A>G (n.*137A>G) n.2376A>G | |
16 | g.15750242T>G | CA394869044 | MYH11 | c.1954A>C (p.Thr652Pro) c.1975A>C (p.Thr659Pro) c.*137A>C (n.*137A>C) n.2376A>C | |
16 | g.15750243G>A | CA493792888 | MYH11 | c.1953C>T (p.Arg651=) c.1974C>T (p.Arg658=) c.*136C>T (n.*136C>T) n.2375C>T | ClinVar gnomAD v4 |
16 | g.15750243G>C | CA493792889 | MYH11 | c.1953C>G (p.Arg651=) c.1974C>G (p.Arg658=) c.*136C>G (n.*136C>G) n.2375C>G | |
16 | g.15750243G>T | CA493792890 | MYH11 | c.1953C>A (p.Arg651=) c.1974C>A (p.Arg658=) c.*136C>A (n.*136C>A) n.2375C>A | |
16 | g.15750244C>A | CA394869045 | MYH11 | c.1952G>T (p.Arg651Leu) c.1973G>T (p.Arg658Leu) c.*135G>T (n.*135G>T) n.2374G>T | |
16 | g.15750244C= | CA2209930439 | MYH11 | c.1952G= (p.Arg651=) c.1973G= (p.Arg658=) c.*135G= (n.*135G=) n.2374G= | |
16 | g.15750244C>G | CA394869046 | MYH11 | c.1952G>C (p.Arg651Pro) c.1973G>C (p.Arg658Pro) c.*135G>C (n.*135G>C) n.2374G>C | |
16 | g.15750244C>T | CA394869047 | MYH11 | c.1952G>A (p.Arg651His) c.1973G>A (p.Arg658His) c.*135G>A (n.*135G>A) n.2374G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.15750245G>A | CA394869048 | MYH11 | c.1951C>T (p.Arg651Cys) c.1972C>T (p.Arg658Cys) c.*134C>T (n.*134C>T) n.2373C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.15750245G>C | CA394869049 | MYH11 | c.1951C>G (p.Arg651Gly) c.1972C>G (p.Arg658Gly) c.*134C>G (n.*134C>G) n.2373C>G | dbSNP gnomAD v4 |
16 | g.15750245G= | CA2209930440 | MYH11 | c.1951C= (p.Arg651=) c.1972C= (p.Arg658=) c.*134C= (n.*134C=) n.2373C= | |
16 | g.15750245G>T | CA394869050 | MYH11 | c.1951C>A (p.Arg651Ser) c.1972C>A (p.Arg658Ser) c.*134C>A (n.*134C>A) n.2373C>A | |
16 | g.15750246G>A | CA493792894 | MYH11 | c.1950C>T (p.Phe650=) c.1971C>T (p.Phe657=) c.*133C>T (n.*133C>T) n.2372C>T | ClinVar dbSNP |
16 | g.15750246G>C | CA394869052 | MYH11 | c.1950C>G (p.Phe650Leu) c.1971C>G (p.Phe657Leu) c.*133C>G (n.*133C>G) n.2372C>G | |
16 | g.15750246G= | CA2209930441 | MYH11 | c.1950C= (p.Phe650=) c.1971C= (p.Phe657=) c.*133C= (n.*133C=) n.2372C= | |
16 | g.15750246G>T | CA394869051 | MYH11 | c.1950C>A (p.Phe650Leu) c.1971C>A (p.Phe657Leu) c.*133C>A (n.*133C>A) n.2372C>A | |
16 | g.15750247A>C | CA394869053 | MYH11 | c.1949T>G (p.Phe650Cys) c.1970T>G (p.Phe657Cys) c.*132T>G (n.*132T>G) n.2371T>G | |
16 | g.15750247A>G | CA394869054 | MYH11 | c.1949T>C (p.Phe650Ser) c.1970T>C (p.Phe657Ser) c.*132T>C (n.*132T>C) n.2371T>C | |
16 | g.15750247A>T | CA394869055 | MYH11 | c.1949T>A (p.Phe650Tyr) c.1970T>A (p.Phe657Tyr) c.*132T>A (n.*132T>A) n.2371T>A | |
16 | g.15750248A>C | CA394869056 | MYH11 | c.1948T>G (p.Phe650Val) c.1969T>G (p.Phe657Val) c.*131T>G (n.*131T>G) n.2370T>G | |
16 | g.15750248A>G | CA394869057 | MYH11 | c.1948T>C (p.Phe650Leu) c.1969T>C (p.Phe657Leu) c.*131T>C (n.*131T>C) n.2370T>C | |
16 | g.15750248A>T | CA394869058 | MYH11 | c.1948T>A (p.Phe650Ile) c.1969T>A (p.Phe657Ile) c.*131T>A (n.*131T>A) n.2370T>A | |
16 | g.15750249C>A | CA394869059 | MYH11 | c.1947G>T (p.Met649Ile) c.1968G>T (p.Met656Ile) c.*130G>T (n.*130G>T) n.2369G>T | |
16 | g.15750249C>G | CA394869060 | MYH11 | c.1947G>C (p.Met649Ile) c.1968G>C (p.Met656Ile) c.*130G>C (n.*130G>C) n.2369G>C | |
16 | g.15750249C>T | CA394869061 | MYH11 | c.1947G>A (p.Met649Ile) c.1968G>A (p.Met656Ile) c.*130G>A (n.*130G>A) n.2369G>A | gnomAD v4 |
16 | g.15750250A>C | CA394869062 | MYH11 | c.1946T>G (p.Met649Arg) c.1967T>G (p.Met656Arg) c.*129T>G (n.*129T>G) n.2368T>G | |
16 | g.15750250A>G | CA394869063 | MYH11 | c.1946T>C (p.Met649Thr) c.1967T>C (p.Met656Thr) c.*129T>C (n.*129T>C) n.2368T>C | ClinVar |
16 | g.15750250A>T | CA394869064 | MYH11 | c.1946T>A (p.Met649Lys) c.1967T>A (p.Met656Lys) c.*129T>A (n.*129T>A) n.2368T>A | |
16 | g.15750251T>A | CA394869065 | MYH11 | c.1945A>T (p.Met649Leu) c.1966A>T (p.Met656Leu) c.*128A>T (n.*128A>T) n.2367A>T | gnomAD v4 |
16 | g.15750251T>C | CA394869067 | MYH11 | c.1945A>G (p.Met649Val) c.1966A>G (p.Met656Val) c.*128A>G (n.*128A>G) n.2367A>G | |
16 | g.15750251T>G | CA394869066 | MYH11 | c.1945A>C (p.Met649Leu) c.1966A>C (p.Met656Leu) c.*128A>C (n.*128A>C) n.2367A>C | |
16 | g.15750252G>A | CA493792901 | MYH11 | c.1944C>T (p.Gly648=) c.1965C>T (p.Gly655=) c.*127C>T (n.*127C>T) n.2366C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.15750252G>C | CA493792900 | MYH11 | c.1944C>G (p.Gly648=) c.1965C>G (p.Gly655=) c.*127C>G (n.*127C>G) n.2366C>G | |
16 | g.15750252G= | CA2209930442 | MYH11 | c.1944C= (p.Gly648=) c.1965C= (p.Gly655=) c.*127C= (n.*127C=) n.2366C= | |
16 | g.15750252G>T | CA493792899 | MYH11 | c.1944C>A (p.Gly648=) c.1965C>A (p.Gly655=) c.*127C>A (n.*127C>A) n.2366C>A | |
16 | g.15750253C>A | CA394869068 | MYH11 | c.1943G>T (p.Gly648Val) c.1964G>T (p.Gly655Val) c.*126G>T (n.*126G>T) n.2365G>T | |
16 | g.15750253C>G | CA394869070 | MYH11 | c.1943G>C (p.Gly648Ala) c.1964G>C (p.Gly655Ala) c.*126G>C (n.*126G>C) n.2365G>C | |
16 | g.15750253C>T | CA394869069 | MYH11 | c.1943G>A (p.Gly648Asp) c.1964G>A (p.Gly655Asp) c.*126G>A (n.*126G>A) n.2365G>A | |
16 | g.15750254C>A | CA394869071 | MYH11 | c.1942G>T (p.Gly648Cys) c.1963G>T (p.Gly655Cys) c.*125G>T (n.*125G>T) n.2364G>T | |
16 | g.15750254C>G | CA394869072 | MYH11 | c.1942G>C (p.Gly648Arg) c.1963G>C (p.Gly655Arg) c.*125G>C (n.*125G>C) n.2364G>C | |
16 | g.15750254C>T | CA394869073 | MYH11 | c.1942G>A (p.Gly648Ser) c.1963G>A (p.Gly655Ser) c.*125G>A (n.*125G>A) n.2364G>A | |
16 | g.15750255C>A | CA394869074 | MYH11 | c.1941G>T (p.Lys647Asn) c.1962G>T (p.Lys654Asn) c.*124G>T (n.*124G>T) n.2363G>T | |
16 | g.15750255C>G | CA394869075 | MYH11 | c.1941G>C (p.Lys647Asn) c.1962G>C (p.Lys654Asn) c.*124G>C (n.*124G>C) n.2363G>C | |
16 | g.15750255C>T | CA493792903 | MYH11 | c.1941G>A (p.Lys647=) c.1962G>A (p.Lys654=) c.*124G>A (n.*124G>A) n.2363G>A | COSMIC COSMIC |
16 | g.15750256T>A | CA394869076 | MYH11 | c.1940A>T (p.Lys647Met) c.1961A>T (p.Lys654Met) c.*123A>T (n.*123A>T) n.2362A>T | |
16 | g.15750256T>C | CA394869077 | MYH11 | c.1940A>G (p.Lys647Arg) c.1961A>G (p.Lys654Arg) c.*123A>G (n.*123A>G) n.2362A>G | |
16 | g.15750256T>G | CA394869078 | MYH11 | c.1940A>C (p.Lys647Thr) c.1961A>C (p.Lys654Thr) c.*123A>C (n.*123A>C) n.2362A>C | |
16 | g.15750257T>A | CA394869079 | MYH11 | c.1939A>T (p.Lys647Ter) c.1960A>T (p.Lys654Ter) c.*122A>T (n.*122A>T) n.2361A>T | |
16 | g.15750257T>C | CA394869080 | MYH11 | c.1939A>G (p.Lys647Glu) c.1960A>G (p.Lys654Glu) c.*122A>G (n.*122A>G) n.2361A>G | gnomAD v4 |
16 | g.15750257T>G | CA394869081 | MYH11 | c.1939A>C (p.Lys647Gln) c.1960A>C (p.Lys654Gln) c.*122A>C (n.*122A>C) n.2361A>C | |
16 | g.15750258C>A | CA394869083 | MYH11 | c.1938G>T (p.Lys646Asn) c.1959G>T (p.Lys653Asn) c.*121G>T (n.*121G>T) n.2360G>T | |
16 | g.15750258C>G | CA394869082 | MYH11 | c.1938G>C (p.Lys646Asn) c.1959G>C (p.Lys653Asn) c.*121G>C (n.*121G>C) n.2360G>C | |
16 | g.15750258C>T | CA493792907 | MYH11 | c.1938G>A (p.Lys646=) c.1959G>A (p.Lys653=) c.*121G>A (n.*121G>A) n.2360G>A | |
16 | g.15750259T>A | CA394869084 | MYH11 | c.1937A>T (p.Lys646Met) c.1958A>T (p.Lys653Met) c.*120A>T (n.*120A>T) n.2359A>T | |
16 | g.15750259T>C | CA394869085 | MYH11 | c.1937A>G (p.Lys646Arg) c.1958A>G (p.Lys653Arg) c.*120A>G (n.*120A>G) n.2359A>G | dbSNP gnomAD v4 |
16 | g.15750259T>G | CA394869086 | MYH11 | c.1937A>C (p.Lys646Thr) c.1958A>C (p.Lys653Thr) c.*120A>C (n.*120A>C) n.2359A>C | |
16 | g.15750259T= | CA2209930443 | MYH11 | c.1937A= (p.Lys646=) c.1958A= (p.Lys653=) c.*120A= (n.*120A=) n.2359A= | |
16 | g.15750260T>A | CA394869087 | MYH11 | c.1936A>T (p.Lys646Ter) c.1957A>T (p.Lys653Ter) c.*119A>T (n.*119A>T) n.2358A>T | |
16 | g.15750260T>C | CA394869088 | MYH11 | c.1936A>G (p.Lys646Glu) c.1957A>G (p.Lys653Glu) c.*119A>G (n.*119A>G) n.2358A>G | |
16 | g.15750260T>G | CA394869089 | MYH11 | c.1936A>C (p.Lys646Gln) c.1957A>C (p.Lys653Gln) c.*119A>C (n.*119A>C) n.2358A>C | |
16 | g.15750261G>A | CA493792909 | MYH11 | c.1935C>T (p.Thr645=) c.1956C>T (p.Thr652=) c.*118C>T (n.*118C>T) n.2357C>T | |
16 | g.15750261G>C | CA493792910 | MYH11 | c.1935C>G (p.Thr645=) c.1956C>G (p.Thr652=) c.*118C>G (n.*118C>G) n.2357C>G | |
16 | g.15750261G>T | CA493792911 | MYH11 | c.1935C>A (p.Thr645=) c.1956C>A (p.Thr652=) c.*118C>A (n.*118C>A) n.2357C>A | |
16 | g.15750262G>A | CA394869090 | MYH11 | c.1934C>T (p.Thr645Ile) c.1955C>T (p.Thr652Ile) c.*117C>T (n.*117C>T) n.2356C>T | |
16 | g.15750262G>C | CA394869091 | MYH11 | c.1934C>G (p.Thr645Ser) c.1955C>G (p.Thr652Ser) c.*117C>G (n.*117C>G) n.2356C>G | |
16 | g.15750262G>T | CA394869092 | MYH11 | c.1934C>A (p.Thr645Asn) c.1955C>A (p.Thr652Asn) c.*117C>A (n.*117C>A) n.2356C>A | |
16 | g.15750263T>A | CA394869093 | MYH11 | c.1933A>T (p.Thr645Ser) c.1954A>T (p.Thr652Ser) c.*116A>T (n.*116A>T) n.2355A>T | |
16 | g.15750263T>C | CA394869094 | MYH11 | c.1933A>G (p.Thr645Ala) c.1954A>G (p.Thr652Ala) c.*116A>G (n.*116A>G) n.2355A>G | |
16 | g.15750263T>G | CA394869095 | MYH11 | c.1933A>C (p.Thr645Pro) c.1954A>C (p.Thr652Pro) c.*116A>C (n.*116A>C) n.2355A>C | |
16 | g.15750264C>A | CA394869097 | MYH11 | c.1932G>T (p.Lys644Asn) c.1953G>T (p.Lys651Asn) c.*115G>T (n.*115G>T) n.2354G>T | |
16 | g.15750264C>G | CA394869096 | MYH11 | c.1932G>C (p.Lys644Asn) c.1953G>C (p.Lys651Asn) c.*115G>C (n.*115G>C) n.2354G>C | |
16 | g.15750264C>T | CA493792915 | MYH11 | c.1932G>A (p.Lys644=) c.1953G>A (p.Lys651=) c.*115G>A (n.*115G>A) n.2354G>A | ClinVar |
16 | g.15750264_15750265insCAAGAAGGGCGTCTTCTACAAGCAAGAAGGGCGTGTTCTTAATCGCTATTCGTAACATCTTGATTTCGTGTAGGTTATAAAAGTAATTGTAAGGTACGTTAAACGCTTATTTAGAGGATGTTTCT | CA2806025578 | MYH11 | c.1931_1932insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG (p.Thr645GlufsTer6) c.1952_1953insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG (p.Thr652GlufsTer6) c.*114_*115insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG (n.*114_*115insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG) n.2353_2354insAGAAACATCCTCTAAATAAGCGTTTAACGTACCTTACAATTACTTTTATAACCTACACGAAATCAAGATGTTACGAATAGCGATTAAGAACACGCCCTTCTTGCTTGTAGAAGACGCCCTTCTTG | |
16 | g.15750264_15750265insCAAGAAGGGCGTCTTCTACGAGCAAGAAGGGCGTGGTCTTAAGCGCTAAGTGTAAAGTTCTGATTTCCTGTGGGTTATATATTTGATTATAGGGAGTGCTGTAGGGTAGTTTTGAGGGTGATAGGCTCGG | CA2520743454 | MYH11 | c.1931_1932insCCGAGCCTATCACCCTCAAAACTACCCTACAGCACTCCCTATAATCAAATATATAACCCACAGGAAATCAGAACTTTACACTTAGCGCTTAAGACCACGCCCTTCTTGCTCGTAGAAGACGCCCTTCTTG (p.Lys644AsnfsTer29) c.1952_1953insCCGAGCCTATCACCCTCAAAACTACCCTACAGCACTCCCTATAATCAAATATATAACCCACAGGAAATCAGAACTTTACACTTAGCGCTTAAGACCACGCCCTTCTTGCTCGTAGAAGACGCCCTTCTTG (p.Lys651AsnfsTer29) c.*114_*115insCCGAGCCTATCACCCTCAAAACTACCCTACAGCACTCCCTATAATCAAATATATAACCCACAGGAAATCAGAACTTTACACTTAGCGCTTAAGACCACGCCCTTCTTGCTCGTAGAAGACGCCCTTCTTG (n.*114_*115insCCGAGCCTATCACCCTCAAAACTACCCTACAGCACTCCCTATAATCAAATATATAACCCACAGGAAATCAGAACTTTACACTTAGCGCTTAAGACCACGCCCTTCTTGCTCGTAGAAGACGCCCTTCTTG) n.2353_2354insCCGAGCCTATCACCCTCAAAACTACCCTACAGCACTCCCTATAATCAAATATATAACCCACAGGAAATCAGAACTTTACACTTAGCGCTTAAGACCACGCCCTTCTTGCTCGTAGAAGACGCCCTTCTTG | |
16 | g.15750265T>A | CA394869098 | MYH11 | c.1931A>T (p.Lys644Met) c.1952A>T (p.Lys651Met) c.*114A>T (n.*114A>T) n.2353A>T | |
16 | g.15750265T>C | CA394869099 | MYH11 | c.1931A>G (p.Lys644Arg) c.1952A>G (p.Lys651Arg) c.*114A>G (n.*114A>G) n.2353A>G | |
16 | g.15750265T>G | CA394869100 | MYH11 | c.1931A>C (p.Lys644Thr) c.1952A>C (p.Lys651Thr) c.*114A>C (n.*114A>C) n.2353A>C | |
16 | g.15750266T>A | CA394869101 | MYH11 | c.1930A>T (p.Lys644Ter) c.1951A>T (p.Lys651Ter) c.*113A>T (n.*113A>T) n.2352A>T | |
16 | g.15750266T>C | CA394869102 | MYH11 | c.1930A>G (p.Lys644Glu) c.1951A>G (p.Lys651Glu) c.*113A>G (n.*113A>G) n.2352A>G | |
16 | g.15750266T>G | CA394869103 | MYH11 | c.1930A>C (p.Lys644Gln) c.1951A>C (p.Lys651Gln) c.*113A>C (n.*113A>C) n.2352A>C | |
16 | g.15750267G>A | CA493792917 | MYH11 | c.1929C>T (p.Ser643=) c.1950C>T (p.Ser650=) c.*112C>T (n.*112C>T) n.2351C>T | ClinVar dbSNP |
16 | g.15750267G>C | CA493792918 | MYH11 | c.1929C>G (p.Ser643=) c.1950C>G (p.Ser650=) c.*112C>G (n.*112C>G) n.2351C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.15750267G= | CA2209930444 | MYH11 | c.1929C= (p.Ser643=) c.1950C= (p.Ser650=) c.*112C= (n.*112C=) n.2351C= | |
16 | g.15750267G>T | CA493792919 | MYH11 | c.1929C>A (p.Ser643=) c.1950C>A (p.Ser650=) c.*112C>A (n.*112C>A) n.2351C>A | |
16 | g.15750268G>A | CA394869104 | MYH11 | c.1928C>T (p.Ser643Phe) c.1949C>T (p.Ser650Phe) c.*111C>T (n.*111C>T) n.2350C>T | gnomAD v4 |
16 | g.15750268G>C | CA394869105 | MYH11 | c.1928C>G (p.Ser643Cys) c.1949C>G (p.Ser650Cys) c.*111C>G (n.*111C>G) n.2350C>G | |
16 | g.15750268G>T | CA394869106 | MYH11 | c.1928C>A (p.Ser643Tyr) c.1949C>A (p.Ser650Tyr) c.*111C>A (n.*111C>A) n.2350C>A | |
16 | g.15750269A>C | CA394869107 | MYH11 | c.1927T>G (p.Ser643Ala) c.1948T>G (p.Ser650Ala) c.*110T>G (n.*110T>G) n.2349T>G | |
16 | g.15750269A>G | CA394869108 | MYH11 | c.1927T>C (p.Ser643Pro) c.1948T>C (p.Ser650Pro) c.*110T>C (n.*110T>C) n.2349T>C | |
16 | g.15750269A>T | CA394869109 | MYH11 | c.1927T>A (p.Ser643Thr) c.1948T>A (p.Ser650Thr) c.*110T>A (n.*110T>A) n.2349T>A | |
16 | g.15750270G>A | CA278638583 | MYH11 | c.1926C>T (p.Ala642=) c.1947C>T (p.Ala649=) c.*109C>T (n.*109C>T) n.2348C>T | ClinVar dbSNP |
16 | g.15750270G>C | CA493792920 | MYH11 | c.1926C>G (p.Ala642=) c.1947C>G (p.Ala649=) c.*109C>G (n.*109C>G) n.2348C>G | ClinVar dbSNP |
16 | g.15750270G= | CA2209930445 | MYH11 | c.1926C= (p.Ala642=) c.1947C= (p.Ala649=) c.*109C= (n.*109C=) n.2348C= | |
16 | g.15750270G>T | CA493792921 | MYH11 | c.1926C>A (p.Ala642=) c.1947C>A (p.Ala649=) c.*109C>A (n.*109C>A) n.2348C>A | |
16 | g.15750271G>A | CA394869111 | MYH11 | c.1925C>T (p.Ala642Val) c.1946C>T (p.Ala649Val) c.*108C>T (n.*108C>T) n.2347C>T | |
16 | g.15750271G>C | CA394869112 | MYH11 | c.1925C>G (p.Ala642Gly) c.1946C>G (p.Ala649Gly) c.*108C>G (n.*108C>G) n.2347C>G | |
16 | g.15750271G>T | CA394869110 | MYH11 | c.1925C>A (p.Ala642Asp) c.1946C>A (p.Ala649Asp) c.*108C>A (n.*108C>A) n.2347C>A | |
16 | g.15750271_15750289delinsGCGCTGGGCAGCGAGCTCT | CA2209930446 | MYH11 | c.1907_1925delinsAGAGCTCGCTGCCCAGCGC (p.Glu636=) c.1928_1946delinsAGAGCTCGCTGCCCAGCGC (p.Glu643=) c.*90_*108delinsAGAGCTCGCTGCCCAGCGC (n.*90_*108delinsAGAGCTCGCTGCCCAGCGC) n.2329_2347delinsAGAGCTCGCTGCCCAGCGC | |
16 | g.15750272C>A | CA394869113 | MYH11 | c.1924G>T (p.Ala642Ser) c.1945G>T (p.Ala649Ser) c.*107G>T (n.*107G>T) n.2346G>T | |
16 | g.15750272C= | CA2209930447 | MYH11 | c.1924G= (p.Ala642=) c.1945G= (p.Ala649=) c.*107G= (n.*107G=) n.2346G= | |
16 | g.15750272C>G | CA394869114 | MYH11 | c.1924G>C (p.Ala642Pro) c.1945G>C (p.Ala649Pro) c.*107G>C (n.*107G>C) n.2346G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.15750272C>T | CA7922465 | MYH11 | c.1924G>A (p.Ala642Thr) c.1945G>A (p.Ala649Thr) c.*107G>A (n.*107G>A) n.2346G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.15750273_15750290del | CA7922464 | MYH11 | c.1907_1924del (p.Glu636_Ser641del) c.1928_1945del (p.Glu643_Ser648del) c.*90_*107del (n.*90_*107del) n.2329_2346del | dbSNP ExAC gnomAD v2 |
16 | g.15750273G>A | CA7922466 | MYH11 | c.1923C>T (p.Ser641=) c.1944C>T (p.Ser648=) c.*106C>T (n.*106C>T) n.2345C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.15750273G>C | CA394869117 | MYH11 | c.1923C>G (p.Ser641Arg) c.1944C>G (p.Ser648Arg) c.*106C>G (n.*106C>G) n.2345C>G | |
16 | g.15750273G= | CA2209930448 | MYH11 | c.1923C= (p.Ser641=) c.1944C= (p.Ser648=) c.*106C= (n.*106C=) n.2345C= | |
16 | g.15750273G>T | CA394869116 | MYH11 | c.1923C>A (p.Ser641Arg) c.1944C>A (p.Ser648Arg) c.*106C>A (n.*106C>A) n.2345C>A | ClinVar dbSNP gnomAD v4 |
16 | g.15750274C>A | CA394869118 | MYH11 | c.1922G>T (p.Ser641Ile) c.1943G>T (p.Ser648Ile) c.*105G>T (n.*105G>T) n.2344G>T | dbSNP |
16 | g.15750274C= | CA2209930449 | MYH11 | c.1922G= (p.Ser641=) c.1943G= (p.Ser648=) c.*105G= (n.*105G=) n.2344G= | |
16 | g.15750274C>G | CA394869119 | MYH11 | c.1922G>C (p.Ser641Thr) c.1943G>C (p.Ser648Thr) c.*105G>C (n.*105G>C) n.2344G>C | |
16 | g.15750274C>T | CA394869120 | MYH11 | c.1922G>A (p.Ser641Asn) c.1943G>A (p.Ser648Asn) c.*105G>A (n.*105G>A) n.2344G>A | ClinVar dbSNP gnomAD v4 |
16 | g.15750275T>A | CA394869121 | MYH11 | c.1921A>T (p.Ser641Cys) c.1942A>T (p.Ser648Cys) c.*104A>T (n.*104A>T) n.2343A>T | |
16 | g.15750275T>C | CA394869122 | MYH11 | c.1921A>G (p.Ser641Gly) c.1942A>G (p.Ser648Gly) c.*104A>G (n.*104A>G) n.2343A>G | ClinVar |
16 | g.15750275T>G | CA394869123 | MYH11 | c.1921A>C (p.Ser641Arg) c.1942A>C (p.Ser648Arg) c.*104A>C (n.*104A>C) n.2343A>C | |
16 | g.15750276G>A | CA493792925 | MYH11 | c.1920C>T (p.Pro640=) c.1941C>T (p.Pro647=) c.*103C>T (n.*103C>T) n.2342C>T | |
16 | g.15750276G>C | CA493792926 | MYH11 | c.1920C>G (p.Pro640=) c.1941C>G (p.Pro647=) c.*103C>G (n.*103C>G) n.2342C>G | |
16 | g.15750276G>T | CA493792927 | MYH11 | c.1920C>A (p.Pro640=) c.1941C>A (p.Pro647=) c.*103C>A (n.*103C>A) n.2342C>A | |
16 | g.15750277G>A | CA394869126 | MYH11 | c.1919C>T (p.Pro640Leu) c.1940C>T (p.Pro647Leu) c.*102C>T (n.*102C>T) n.2341C>T | |
16 | g.15750277G>C | CA394869125 | MYH11 | c.1919C>G (p.Pro640Arg) c.1940C>G (p.Pro647Arg) c.*102C>G (n.*102C>G) n.2341C>G | |
16 | g.15750277G>T | CA394869124 | MYH11 | c.1919C>A (p.Pro640His) c.1940C>A (p.Pro647His) c.*102C>A (n.*102C>A) n.2341C>A | |
16 | g.15750278G>A | CA278638604 | MYH11 | c.1918C>T (p.Pro640Ser) c.1939C>T (p.Pro647Ser) c.*101C>T (n.*101C>T) n.2340C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.15750278G>C | CA394869128 | MYH11 | c.1918C>G (p.Pro640Ala) c.1939C>G (p.Pro647Ala) c.*101C>G (n.*101C>G) n.2340C>G | |
16 | g.15750278G= | CA2209930450 | MYH11 | c.1918C= (p.Pro640=) c.1939C= (p.Pro647=) c.*101C= (n.*101C=) n.2340C= | |
16 | g.15750278G>T | CA394869127 | MYH11 | c.1918C>A (p.Pro640Thr) c.1939C>A (p.Pro647Thr) c.*101C>A (n.*101C>A) n.2340C>A | |
16 | g.15750279C>A | CA493792930 | MYH11 | c.1917G>T (p.Leu639=) c.1938G>T (p.Leu646=) c.*100G>T (n.*100G>T) n.2339G>T | COSMIC COSMIC |
16 | g.15750279C>G | CA493792932 | MYH11 | c.1917G>C (p.Leu639=) c.1938G>C (p.Leu646=) c.*100G>C (n.*100G>C) n.2339G>C | |
16 | g.15750279C>T | CA493792931 | MYH11 | c.1917G>A (p.Leu639=) c.1938G>A (p.Leu646=) c.*100G>A (n.*100G>A) n.2339G>A | |
16 | g.15750280A= | CA2209930451 | MYH11 | c.1916T= (p.Leu639=) c.1937T= (p.Leu646=) c.*99T= (n.*99T=) n.2338T= | |
16 | g.15750280A>C | CA394869129 | MYH11 | c.1916T>G (p.Leu639Arg) c.1937T>G (p.Leu646Arg) c.*99T>G (n.*99T>G) n.2338T>G | COSMIC |
16 | g.15750280A>G | CA394869130 | MYH11 | c.1916T>C (p.Leu639Pro) c.1937T>C (p.Leu646Pro) c.*99T>C (n.*99T>C) n.2338T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.15750280A>T | CA394869131 | MYH11 | c.1916T>A (p.Leu639Gln) c.1937T>A (p.Leu646Gln) c.*99T>A (n.*99T>A) n.2338T>A | |
16 | g.15750281G>A | CA493792933 | MYH11 | c.1915C>T (p.Leu639=) c.1936C>T (p.Leu646=) c.*98C>T (n.*98C>T) n.2337C>T | |
16 | g.15750281G>C | CA394869132 | MYH11 | c.1915C>G (p.Leu639Val) c.1936C>G (p.Leu646Val) c.*98C>G (n.*98C>G) n.2337C>G | gnomAD v4 |
16 | g.15750281G>T | CA394869133 | MYH11 | c.1915C>A (p.Leu639Met) c.1936C>A (p.Leu646Met) c.*98C>A (n.*98C>A) n.2337C>A | |
16 | g.15750282C>A | CA493792934 | MYH11 | c.1914G>T (p.Ser638=) c.1935G>T (p.Ser645=) c.*97G>T (n.*97G>T) n.2336G>T | |
16 | g.15750282C= | CA2209930452 | MYH11 | c.1914G= (p.Ser638=) c.1935G= (p.Ser645=) c.*97G= (n.*97G=) n.2336G= | |
16 | g.15750282C>G | CA493792935 | MYH11 | c.1914G>C (p.Ser638=) c.1935G>C (p.Ser645=) c.*97G>C (n.*97G>C) n.2336G>C | gnomAD v4 |
16 | g.15750282C>T | CA7922467 | MYH11 | c.1914G>A (p.Ser638=) c.1935G>A (p.Ser645=) c.*97G>A (n.*97G>A) n.2336G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.15750283G>A | CA7922468 | MYH11 | c.1913C>T (p.Ser638Leu) c.1934C>T (p.Ser645Leu) c.*96C>T (n.*96C>T) n.2335C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.15750283G>C | CA394869134 | MYH11 | c.1913C>G (p.Ser638Trp) c.1934C>G (p.Ser645Trp) c.*96C>G (n.*96C>G) n.2335C>G | |
16 | g.15750283G= | CA2209930453 | MYH11 | c.1913C= (p.Ser638=) c.1934C= (p.Ser645=) c.*96C= (n.*96C=) n.2335C= | |
16 | g.15750283G>T | CA394869135 | MYH11 | c.1913C>A (p.Ser638Ter) c.1934C>A (p.Ser645Ter) c.*96C>A (n.*96C>A) n.2335C>A | |
16 | g.15750284A>C | CA394869136 | MYH11 | c.1912T>G (p.Ser638Ala) c.1933T>G (p.Ser645Ala) c.*95T>G (n.*95T>G) n.2334T>G | |
16 | g.15750284A>G | CA394869137 | MYH11 | c.1912T>C (p.Ser638Pro) c.1933T>C (p.Ser645Pro) c.*95T>C (n.*95T>C) n.2334T>C | |
16 | g.15750284A>T | CA394869138 | MYH11 | c.1912T>A (p.Ser638Thr) c.1933T>A (p.Ser645Thr) c.*95T>A (n.*95T>A) n.2334T>A | |
16 | g.15750285G>A | CA493792936 | MYH11 | c.1911C>T (p.Ser637=) c.1932C>T (p.Ser644=) c.*94C>T (n.*94C>T) n.2333C>T | |
16 | g.15750285G>C | CA394869139 | MYH11 | c.1911C>G (p.Ser637Arg) c.1932C>G (p.Ser644Arg) c.*94C>G (n.*94C>G) n.2333C>G | |
16 | g.15750285G>T | CA394869140 | MYH11 | c.1911C>A (p.Ser637Arg) c.1932C>A (p.Ser644Arg) c.*94C>A (n.*94C>A) n.2333C>A | |
16 | g.15750286C>A | CA394869141 | MYH11 | c.1910G>T (p.Ser637Ile) c.1931G>T (p.Ser644Ile) c.*93G>T (n.*93G>T) n.2332G>T | |
16 | g.15750286C= | CA2209930454 | MYH11 | c.1910G= (p.Ser637=) c.1931G= (p.Ser644=) c.*93G= (n.*93G=) n.2332G= | |
16 | g.15750286C>G | CA394869142 | MYH11 | c.1910G>C (p.Ser637Thr) c.1931G>C (p.Ser644Thr) c.*93G>C (n.*93G>C) n.2332G>C | |
16 | g.15750286C>T | CA278638607 | MYH11 | c.1910G>A (p.Ser637Asn) c.1931G>A (p.Ser644Asn) c.*93G>A (n.*93G>A) n.2332G>A | dbSNP |
16 | g.15750287T>A | CA394869143 | MYH11 | c.1909A>T (p.Ser637Cys) c.1930A>T (p.Ser644Cys) c.*92A>T (n.*92A>T) n.2331A>T | |
16 | g.15750287T>C | CA394869144 | MYH11 | c.1909A>G (p.Ser637Gly) c.1930A>G (p.Ser644Gly) c.*92A>G (n.*92A>G) n.2331A>G | |
16 | g.15750287T>G | CA394869145 | MYH11 | c.1909A>C (p.Ser637Arg) c.1930A>C (p.Ser644Arg) c.*92A>C (n.*92A>C) n.2331A>C | |
16 | g.15750288C>A | CA394869146 | MYH11 | c.1908G>T (p.Glu636Asp) c.1929G>T (p.Glu643Asp) c.*91G>T (n.*91G>T) n.2330G>T | |
16 | g.15750288C= | CA2209930455 | MYH11 | c.1908G= (p.Glu636=) c.1929G= (p.Glu643=) c.*91G= (n.*91G=) n.2330G= | |
16 | g.15750288C>G | CA394869147 | MYH11 | c.1908G>C (p.Glu636Asp) c.1929G>C (p.Glu643Asp) c.*91G>C (n.*91G>C) n.2330G>C | ClinVar dbSNP gnomAD v4 |
16 | g.15750288C>T | CA493792937 | MYH11 | c.1908G>A (p.Glu636=) c.1929G>A (p.Glu643=) c.*91G>A (n.*91G>A) n.2330G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.15750289T>A | CA394869148 | MYH11 | c.1907A>T (p.Glu636Val) c.1928A>T (p.Glu643Val) c.*90A>T (n.*90A>T) n.2329A>T | |
16 | g.15750289T>C | CA394869149 | MYH11 | c.1907A>G (p.Glu636Gly) c.1928A>G (p.Glu643Gly) c.*90A>G (n.*90A>G) n.2329A>G | |
16 | g.15750289T>G | CA394869150 | MYH11 | c.1907A>C (p.Glu636Ala) c.1928A>C (p.Glu643Ala) c.*90A>C (n.*90A>C) n.2329A>C | |
16 | g.15750290C>A | CA394869151 | MYH11 | c.1906G>T (p.Glu636Ter) c.1927G>T (p.Glu643Ter) c.*89G>T (n.*89G>T) n.2328G>T | |
16 | g.15750290C>G | CA394869152 | MYH11 | c.1906G>C (p.Glu636Gln) c.1927G>C (p.Glu643Gln) c.*89G>C (n.*89G>C) n.2328G>C | |
16 | g.15750290C>T | CA394869153 | MYH11 | c.1906G>A (p.Glu636Lys) c.1927G>A (p.Glu643Lys) c.*89G>A (n.*89G>A) n.2328G>A | ClinVar gnomAD v4 |
16 | g.15750291C>A | CA493792938 | MYH11 | c.1905G>T (p.Thr635=) c.1926G>T (p.Thr642=) c.*88G>T (n.*88G>T) n.2327G>T | |
16 | g.15750291C= | CA2209930456 | MYH11 | c.1905G= (p.Thr635=) c.1926G= (p.Thr642=) c.*88G= (n.*88G=) n.2327G= | |
16 | g.15750291C>G | CA493792939 | MYH11 | c.1905G>C (p.Thr635=) c.1926G>C (p.Thr642=) c.*88G>C (n.*88G>C) n.2327G>C | |
16 | g.15750291C>T | CA7922469 | MYH11 | c.1905G>A (p.Thr635=) c.1926G>A (p.Thr642=) c.*88G>A (n.*88G>A) n.2327G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.15750292G>A | CA7922470 | MYH11 | c.1904C>T (p.Thr635Met) c.1925C>T (p.Thr642Met) c.*87C>T (n.*87C>T) n.2326C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.15750292G>C | CA394869154 | MYH11 | c.1904C>G (p.Thr635Arg) c.1925C>G (p.Thr642Arg) c.*87C>G (n.*87C>G) n.2326C>G | |
16 | g.15750292G= | CA2209930457 | MYH11 | c.1904C= (p.Thr635=) c.1925C= (p.Thr642=) c.*87C= (n.*87C=) n.2326C= | |
16 | g.15750292G>T | CA394869155 | MYH11 | c.1904C>A (p.Thr635Lys) c.1925C>A (p.Thr642Lys) c.*87C>A (n.*87C>A) n.2326C>A | |
16 | g.15750293T>A | CA394869156 | MYH11 | c.1903A>T (p.Thr635Ser) c.1924A>T (p.Thr642Ser) c.*86A>T (n.*86A>T) n.2325A>T | |
16 | g.15750293T>C | CA394869157 | MYH11 | c.1903A>G (p.Thr635Ala) c.1924A>G (p.Thr642Ala) c.*86A>G (n.*86A>G) n.2325A>G | |
16 | g.15750293T>G | CA394869158 | MYH11 | c.1903A>C (p.Thr635Pro) c.1924A>C (p.Thr642Pro) c.*86A>C (n.*86A>C) n.2325A>C | |
16 | g.15750294C>A | CA394869159 | MYH11 | c.1902G>T (p.Met634Ile) c.1923G>T (p.Met641Ile) c.*85G>T (n.*85G>T) n.2324G>T | |
16 | g.15750294C>G | CA394869160 | MYH11 | c.1902G>C (p.Met634Ile) c.1923G>C (p.Met641Ile) c.*85G>C (n.*85G>C) n.2324G>C | |
16 | g.15750294C>T | CA394869161 | MYH11 | c.1902G>A (p.Met634Ile) c.1923G>A (p.Met641Ile) c.*85G>A (n.*85G>A) n.2324G>A | |
16 | g.15750295A>C | CA394869162 | MYH11 | c.1901T>G (p.Met634Arg) c.1922T>G (p.Met641Arg) c.*84T>G (n.*84T>G) n.2323T>G | |
16 | g.15750295A>G | CA394869163 | MYH11 | c.1901T>C (p.Met634Thr) c.1922T>C (p.Met641Thr) c.*84T>C (n.*84T>C) n.2323T>C | |
16 | g.15750295A>T | CA394869164 | MYH11 | c.1901T>A (p.Met634Lys) c.1922T>A (p.Met641Lys) c.*84T>A (n.*84T>A) n.2323T>A | |
16 | g.15750296T>A | CA394869165 | MYH11 | c.1900A>T (p.Met634Leu) c.1921A>T (p.Met641Leu) c.*83A>T (n.*83A>T) n.2322A>T | |
16 | g.15750296T>C | CA394869166 | MYH11 | c.1900A>G (p.Met634Val) c.1921A>G (p.Met641Val) c.*83A>G (n.*83A>G) n.2322A>G | |
16 | g.15750296T>G | CA394869167 | MYH11 | c.1900A>C (p.Met634Leu) c.1921A>C (p.Met641Leu) c.*83A>C (n.*83A>C) n.2322A>C | |
16 | g.15750297C>A | CA394869169 | MYH11 | c.1899G>T (p.Lys633Asn) c.1920G>T (p.Lys640Asn) c.*82G>T (n.*82G>T) n.2321G>T | ClinVar gnomAD v4 COSMIC COSMIC |
16 | g.15750297C>G | CA394869168 | MYH11 | c.1899G>C (p.Lys633Asn) c.1920G>C (p.Lys640Asn) c.*82G>C (n.*82G>C) n.2321G>C | |
16 | g.15750297C>T | CA493792940 | MYH11 | c.1899G>A (p.Lys633=) c.1920G>A (p.Lys640=) c.*82G>A (n.*82G>A) n.2321G>A | |
16 | g.15750298T>A | CA394869170 | MYH11 | c.1898A>T (p.Lys633Met) c.1919A>T (p.Lys640Met) c.*81A>T (n.*81A>T) n.2320A>T | |
16 | g.15750298T>C | CA394869171 | MYH11 | c.1898A>G (p.Lys633Arg) c.1919A>G (p.Lys640Arg) c.*81A>G (n.*81A>G) n.2320A>G | ClinVar |
16 | g.15750298T>G | CA394869172 | MYH11 | c.1898A>C (p.Lys633Thr) c.1919A>C (p.Lys640Thr) c.*81A>C (n.*81A>C) n.2320A>C | |
16 | g.15750299T>A | CA394869173 | MYH11 | c.1897A>T (p.Lys633Ter) c.1918A>T (p.Lys640Ter) c.*80A>T (n.*80A>T) n.2319A>T | |
16 | g.15750299T>C | CA394869174 | MYH11 | c.1897A>G (p.Lys633Glu) c.1918A>G (p.Lys640Glu) c.*80A>G (n.*80A>G) n.2319A>G | |
16 | g.15750299T>G | CA7922471 | MYH11 | c.1897A>C (p.Lys633Gln) c.1918A>C (p.Lys640Gln) c.*80A>C (n.*80A>C) n.2319A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.15750299T= | CA2209930458 | MYH11 | c.1897A= (p.Lys633=) c.1918A= (p.Lys640=) c.*80A= (n.*80A=) n.2319A= | |
16 | g.15750300G>A | CA7922472 | MYH11 | c.1896C>T (p.Ala632=) c.1917C>T (p.Ala639=) c.*79C>T (n.*79C>T) n.2318C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.15750300G>C | CA493792942 | MYH11 | c.1896C>G (p.Ala632=) c.1917C>G (p.Ala639=) c.*79C>G (n.*79C>G) n.2318C>G | |
16 | g.15750300G= | CA2209930459 | MYH11 | c.1896C= (p.Ala632=) c.1917C= (p.Ala639=) c.*79C= (n.*79C=) n.2318C= | |
16 | g.15750300G>T | CA493792941 | MYH11 | c.1896C>A (p.Ala632=) c.1917C>A (p.Ala639=) c.*79C>A (n.*79C>A) n.2318C>A | |
16 | g.15750301G>A | CA394869175 | MYH11 | c.1895C>T (p.Ala632Val) c.1916C>T (p.Ala639Val) c.*78C>T (n.*78C>T) n.2317C>T | |
16 | g.15750301G>C | CA394869176 | MYH11 | c.1895C>G (p.Ala632Gly) c.1916C>G (p.Ala639Gly) c.*78C>G (n.*78C>G) n.2317C>G | |
16 | g.15750301G>T | CA394869177 | MYH11 | c.1895C>A (p.Ala632Asp) c.1916C>A (p.Ala639Asp) c.*78C>A (n.*78C>A) n.2317C>A | |
16 | g.15750302C>A | CA394869178 | MYH11 | c.1894G>T (p.Ala632Ser) c.1915G>T (p.Ala639Ser) c.*77G>T (n.*77G>T) n.2316G>T | |
16 | g.15750302C>G | CA394869179 | MYH11 | c.1894G>C (p.Ala632Pro) c.1915G>C (p.Ala639Pro) c.*77G>C (n.*77G>C) n.2316G>C | |
16 | g.15750302C>T | CA394869180 | MYH11 | c.1894G>A (p.Ala632Thr) c.1915G>A (p.Ala639Thr) c.*77G>A (n.*77G>A) n.2316G>A | |
16 | g.15750303C>A | CA394869181 | MYH11 | c.1893G>T (p.Met631Ile) c.1914G>T (p.Met638Ile) c.*76G>T (n.*76G>T) n.2315G>T | |
16 | g.15750303C>G | CA394869183 | MYH11 | c.1893G>C (p.Met631Ile) c.1914G>C (p.Met638Ile) c.*76G>C (n.*76G>C) n.2315G>C | |
16 | g.15750303C>T | CA394869182 | MYH11 | c.1893G>A (p.Met631Ile) c.1914G>A (p.Met638Ile) c.*76G>A (n.*76G>A) n.2315G>A | |
16 | g.15750304A>C | CA394869184 | MYH11 | c.1892T>G (p.Met631Arg) c.1913T>G (p.Met638Arg) c.*75T>G (n.*75T>G) n.2314T>G | |
16 | g.15750304A>G | CA394869186 | MYH11 | c.1892T>C (p.Met631Thr) c.1913T>C (p.Met638Thr) c.*75T>C (n.*75T>C) n.2314T>C | |
16 | g.15750304A>T | CA394869185 | MYH11 | c.1892T>A (p.Met631Lys) c.1913T>A (p.Met638Lys) c.*75T>A (n.*75T>A) n.2314T>A | |
16 | g.15750305T>A | CA394869187 | MYH11 | c.1891A>T (p.Met631Leu) c.1912A>T (p.Met638Leu) c.*74A>T (n.*74A>T) n.2313A>T | |
16 | g.15750305T>C | CA394869188 | MYH11 | c.1891A>G (p.Met631Val) c.1912A>G (p.Met638Val) c.*74A>G (n.*74A>G) n.2313A>G | dbSNP |
16 | g.15750305T>G | CA394869189 | MYH11 | c.1891A>C (p.Met631Leu) c.1912A>C (p.Met638Leu) c.*74A>C (n.*74A>C) n.2313A>C | gnomAD v4 |
16 | g.15750306C>A | CA394869190 | MYH11 | c.1890G>T (p.Gln630His) c.1911G>T (p.Gln637His) c.*73G>T (n.*73G>T) n.2312G>T | |
16 | g.15750306C>G | CA394869191 | MYH11 | c.1890G>C (p.Gln630His) c.1911G>C (p.Gln637His) c.*73G>C (n.*73G>C) n.2312G>C | |
16 | g.15750306C>T | CA493792943 | MYH11 | c.1890G>A (p.Gln630=) c.1911G>A (p.Gln637=) c.*73G>A (n.*73G>A) n.2312G>A | |
16 | g.15750307T>A | CA394869192 | MYH11 | c.1889A>T (p.Gln630Leu) c.1910A>T (p.Gln637Leu) c.*72A>T (n.*72A>T) n.2311A>T | |
16 | g.15750307T>C | CA394869193 | MYH11 | c.1889A>G (p.Gln630Arg) c.1910A>G (p.Gln637Arg) c.*72A>G (n.*72A>G) n.2311A>G | |
16 | g.15750307T>G | CA394869194 | MYH11 | c.1889A>C (p.Gln630Pro) c.1910A>C (p.Gln637Pro) c.*72A>C (n.*72A>C) n.2311A>C | gnomAD v4 |
16 | g.15750308G>A | CA394869195 | MYH11 | c.1888C>T (p.Gln630Ter) c.1909C>T (p.Gln637Ter) c.*71C>T (n.*71C>T) n.2310C>T | dbSNP gnomAD v2 |
16 | g.15750308G>C | CA394869196 | MYH11 | c.1888C>G (p.Gln630Glu) c.1909C>G (p.Gln637Glu) c.*71C>G (n.*71C>G) n.2310C>G | |
16 | g.15750308G= | CA2209930460 | MYH11 | c.1888C= (p.Gln630=) c.1909C= (p.Gln637=) c.*71C= (n.*71C=) n.2310C= | |
16 | g.15750308G>T | CA394869197 | MYH11 | c.1888C>A (p.Gln630Lys) c.1909C>A (p.Gln637Lys) c.*71C>A (n.*71C>A) n.2310C>A | |
16 | g.15750308_15750309del | CA2839399369 | MYH11 | c.1887_1888del (p.Asp629GlufsTer?) c.1908_1909del (p.Asp636GlufsTer?) c.*70_*71del (n.*70_*71del) n.2309_2310del | |
16 | g.15750309G>A | CA278638640 | MYH11 | c.1887C>T (p.Asp629=) c.1908C>T (p.Asp636=) c.*70C>T (n.*70C>T) n.2309C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.15750309G>C | CA394869199 | MYH11 | c.1887C>G (p.Asp629Glu) c.1908C>G (p.Asp636Glu) c.*70C>G (n.*70C>G) n.2309C>G | |
16 | g.15750309G= | CA2209930461 | MYH11 | c.1887C= (p.Asp629=) c.1908C= (p.Asp636=) c.*70C= (n.*70C=) n.2309C= | |
16 | g.15750309G>T | CA394869198 | MYH11 | c.1887C>A (p.Asp629Glu) c.1908C>A (p.Asp636Glu) c.*70C>A (n.*70C>A) n.2309C>A | |
16 | g.15750310T>A | CA394869200 | MYH11 | c.1886A>T (p.Asp629Val) c.1907A>T (p.Asp636Val) c.*69A>T (n.*69A>T) n.2308A>T | |
16 | g.15750310T>C | CA7922473 | MYH11 | c.1886A>G (p.Asp629Gly) c.1907A>G (p.Asp636Gly) c.*69A>G (n.*69A>G) n.2308A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.15750310T>G | CA394869201 | MYH11 | c.1886A>C (p.Asp629Ala) c.1907A>C (p.Asp636Ala) c.*69A>C (n.*69A>C) n.2308A>C | |
16 | g.15750310T= | CA2209930462 | MYH11 | c.1886A= (p.Asp629=) c.1907A= (p.Asp636=) c.*69A= (n.*69A=) n.2308A= | |
16 | g.15750311C>A | CA394869202 | MYH11 | c.1885G>T (p.Asp629Tyr) c.1906G>T (p.Asp636Tyr) c.*68G>T (n.*68G>T) n.2307G>T | |
16 | g.15750311C>G | CA394869203 | MYH11 | c.1885G>C (p.Asp629His) c.1906G>C (p.Asp636His) c.*68G>C (n.*68G>C) n.2307G>C | |
16 | g.15750311C>T | CA394869204 | MYH11 | c.1885G>A (p.Asp629Asn) c.1906G>A (p.Asp636Asn) c.*68G>A (n.*68G>A) n.2307G>A | gnomAD v4 |
16 | g.15750312C>A | CA493792944 | MYH11 | c.1884G>T (p.Leu628=) c.1905G>T (p.Leu635=) c.*67G>T (n.*67G>T) n.2306G>T | |
16 | g.15750312C>G | CA493792946 | MYH11 | c.1884G>C (p.Leu628=) c.1905G>C (p.Leu635=) c.*67G>C (n.*67G>C) n.2306G>C | |
16 | g.15750312C>T | CA493792945 | MYH11 | c.1884G>A (p.Leu628=) c.1905G>A (p.Leu635=) c.*67G>A (n.*67G>A) n.2306G>A | COSMIC COSMIC |
16 | g.15750313A>C | CA394869205 | MYH11 | c.1883T>G (p.Leu628Arg) c.1904T>G (p.Leu635Arg) c.*66T>G (n.*66T>G) n.2305T>G | |
16 | g.15750313A>G | CA394869206 | MYH11 | c.1883T>C (p.Leu628Pro) c.1904T>C (p.Leu635Pro) c.*66T>C (n.*66T>C) n.2305T>C | |
16 | g.15750313A>T | CA394869207 | MYH11 | c.1883T>A (p.Leu628Gln) c.1904T>A (p.Leu635Gln) c.*66T>A (n.*66T>A) n.2305T>A | |
16 | g.15750314G>A | CA493792947 | MYH11 | c.1882C>T (p.Leu628=) c.1903C>T (p.Leu635=) c.*65C>T (n.*65C>T) n.2304C>T | |
16 | g.15750314G>C | CA394869208 | MYH11 | c.1882C>G (p.Leu628Val) c.1903C>G (p.Leu635Val) c.*65C>G (n.*65C>G) n.2304C>G | |
16 | g.15750314G>T | CA394869209 | MYH11 | c.1882C>A (p.Leu628Met) c.1903C>A (p.Leu635Met) c.*65C>A (n.*65C>A) n.2304C>A | |
16 | g.15750315G>A | CA493792948 | MYH11 | c.1881C>T (p.Gly627=) c.1902C>T (p.Gly634=) c.*64C>T (n.*64C>T) n.2303C>T | |
16 | g.15750315G>C | CA493792950 | MYH11 | c.1881C>G (p.Gly627=) c.1902C>G (p.Gly634=) c.*64C>G (n.*64C>G) n.2303C>G | |
16 | g.15750315G>T | CA493792949 | MYH11 | c.1881C>A (p.Gly627=) c.1902C>A (p.Gly634=) c.*64C>A (n.*64C>A) n.2303C>A | gnomAD v4 |
16 | g.15750316C>A | CA394869212 | MYH11 | c.1880G>T (p.Gly627Val) c.1901G>T (p.Gly634Val) c.*63G>T (n.*63G>T) n.2302G>T | dbSNP |
16 | g.15750316C= | CA2209930463 | MYH11 | c.1880G= (p.Gly627=) c.1901G= (p.Gly634=) c.*63G= (n.*63G=) n.2302G= | |
16 | g.15750316C>G | CA394869211 | MYH11 | c.1880G>C (p.Gly627Ala) c.1901G>C (p.Gly634Ala) c.*63G>C (n.*63G>C) n.2302G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.15750316C>T | CA394869210 | MYH11 | c.1880G>A (p.Gly627Asp) c.1901G>A (p.Gly634Asp) c.*63G>A (n.*63G>A) n.2302G>A | |
16 | g.15750318dup | CA2839764916 | MYH11 | c.1880dup (p.Leu628ProfsTer?) c.1901dup (p.Leu635ProfsTer?) c.*63dup (n.*63dup) n.2302dup | |
16 | g.15750317C>A | CA394869213 | MYH11 | c.1879G>T (p.Gly627Cys) c.1900G>T (p.Gly634Cys) c.*62G>T (n.*62G>T) n.2301G>T | |
16 | g.15750317C= | CA2209930464 | MYH11 | c.1879G= (p.Gly627=) c.1900G= (p.Gly634=) c.*62G= (n.*62G=) n.2301G= | |
16 | g.15750317C>G | CA394869214 | MYH11 | c.1879G>C (p.Gly627Arg) c.1900G>C (p.Gly634Arg) c.*62G>C (n.*62G>C) n.2301G>C | |
16 | g.15750317C>T | CA7922474 | MYH11 | c.1879G>A (p.Gly627Ser) c.1900G>A (p.Gly634Ser) c.*62G>A (n.*62G>A) n.2301G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.15750318C>A | CA493792951 | MYH11 | c.1878G>T (p.Val626=) c.1899G>T (p.Val633=) c.*61G>T (n.*61G>T) n.2300G>T | |
16 | g.15750318C>G | CA493792953 | MYH11 | c.1878G>C (p.Val626=) c.1899G>C (p.Val633=) c.*61G>C (n.*61G>C) n.2300G>C | |
16 | g.15750318C>T | CA493792952 | MYH11 | c.1878G>A (p.Val626=) c.1899G>A (p.Val633=) c.*61G>A (n.*61G>A) n.2300G>A | |
16 | g.15750319A>C | CA394869215 | MYH11 | c.1877T>G (p.Val626Gly) c.1898T>G (p.Val633Gly) c.*60T>G (n.*60T>G) n.2299T>G | |
16 | g.15750319A>G | CA394869216 | MYH11 | c.1877T>C (p.Val626Ala) c.1898T>C (p.Val633Ala) c.*60T>C (n.*60T>C) n.2299T>C | |
16 | g.15750319A>T | CA394869217 | MYH11 | c.1877T>A (p.Val626Glu) c.1898T>A (p.Val633Glu) c.*60T>A (n.*60T>A) n.2299T>A | |
16 | g.15750320C>A | CA394869218 | MYH11 | c.1876G>T (p.Val626Leu) c.1897G>T (p.Val633Leu) c.*59G>T (n.*59G>T) n.2298G>T | ClinVar gnomAD v4 |
16 | g.15750320C= | CA2209930465 | MYH11 | c.1876G= (p.Val626=) c.1897G= (p.Val633=) c.*59G= (n.*59G=) n.2298G= | |
16 | g.15750320C>G | CA394869219 | MYH11 | c.1876G>C (p.Val626Leu) c.1897G>C (p.Val633Leu) c.*59G>C (n.*59G>C) n.2298G>C | |
16 | g.15750320C>T | CA394869220 | MYH11 | c.1876G>A (p.Val626Met) c.1897G>A (p.Val633Met) c.*59G>A (n.*59G>A) n.2298G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.15750321G>A | CA278638647 | MYH11 | c.1875C>T (p.Ile625=) c.1896C>T (p.Ile632=) c.*58C>T (n.*58C>T) n.2297C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.15750321G>C | CA394869221 | MYH11 | c.1875C>G (p.Ile625Met) c.1896C>G (p.Ile632Met) c.*58C>G (n.*58C>G) n.2297C>G | |
16 | g.15750321G= | CA2209930466 | MYH11 | c.1875C= (p.Ile625=) c.1896C= (p.Ile632=) c.*58C= (n.*58C=) n.2297C= | |
16 | g.15750321G>T | CA493792954 | MYH11 | c.1875C>A (p.Ile625=) c.1896C>A (p.Ile632=) c.*58C>A (n.*58C>A) n.2297C>A | ClinVar |
16 | g.15750322A= | CA2209930467 | MYH11 | c.1874T= (p.Ile625=) c.1895T= (p.Ile632=) c.*57T= (n.*57T=) n.2296T= | |
16 | g.15750322A>C | CA394869222 | MYH11 | c.1874T>G (p.Ile625Ser) c.1895T>G (p.Ile632Ser) c.*57T>G (n.*57T>G) n.2296T>G | |
16 | g.15750322A>G | CA394869223 | MYH11 | c.1874T>C (p.Ile625Thr) c.1895T>C (p.Ile632Thr) c.*57T>C (n.*57T>C) n.2296T>C | |
16 | g.15750322A>T | CA394869224 | MYH11 | c.1874T>A (p.Ile625Asn) c.1895T>A (p.Ile632Asn) c.*57T>A (n.*57T>A) n.2296T>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.15750323T>A | CA394869227 | MYH11 | c.1873A>T (p.Ile625Phe) c.1894A>T (p.Ile632Phe) c.*56A>T (n.*56A>T) n.2295A>T | |
16 | g.15750323T>C | CA394869225 | MYH11 | c.1873A>G (p.Ile625Val) c.1894A>G (p.Ile632Val) c.*56A>G (n.*56A>G) n.2295A>G | |
16 | g.15750323T>G | CA394869226 | MYH11 | c.1873A>C (p.Ile625Leu) c.1894A>C (p.Ile632Leu) c.*56A>C (n.*56A>C) n.2295A>C | |
16 | g.15750324G>A | CA493792955 | MYH11 | c.1872C>T (p.Arg624=) c.1893C>T (p.Arg631=) c.*55C>T (n.*55C>T) n.2294C>T | |
16 | g.15750324G>C | CA493792956 | MYH11 | c.1872C>G (p.Arg624=) c.1893C>G (p.Arg631=) c.*55C>G (n.*55C>G) n.2294C>G | |
16 | g.15750324G>T | CA493792957 | MYH11 | c.1872C>A (p.Arg624=) c.1893C>A (p.Arg631=) c.*55C>A (n.*55C>A) n.2294C>A | gnomAD v4 |
16 | g.15750325C>A | CA394869228 | MYH11 | c.1871G>T (p.Arg624Leu) c.1892G>T (p.Arg631Leu) c.*54G>T (n.*54G>T) n.2293G>T | ClinVar |
16 | g.15750325C= | CA2209930468 | MYH11 | c.1871G= (p.Arg624=) c.1892G= (p.Arg631=) c.*54G= (n.*54G=) n.2293G= | |
16 | g.15750325C>G | CA7922475 | MYH11 | c.1871G>C (p.Arg624Pro) c.1892G>C (p.Arg631Pro) c.*54G>C (n.*54G>C) n.2293G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.15750325C>T | CA345838 | MYH11 | c.1871G>A (p.Arg624His) c.1892G>A (p.Arg631His) c.*54G>A (n.*54G>A) n.2293G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.15750326G>A | CA7922476 | MYH11 | c.1870C>T (p.Arg624Cys) c.1891C>T (p.Arg631Cys) c.*53C>T (n.*53C>T) n.2292C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.15750326G>C | CA394869229 | MYH11 | c.1870C>G (p.Arg624Gly) c.1891C>G (p.Arg631Gly) c.*53C>G (n.*53C>G) n.2292C>G | |
16 | g.15750326G= | CA2209930469 | MYH11 | c.1870C= (p.Arg624=) c.1891C= (p.Arg631=) c.*53C= (n.*53C=) n.2292C= | |
16 | g.15750326G>T | CA394869230 | MYH11 | c.1870C>A (p.Arg624Ser) c.1891C>A (p.Arg631Ser) c.*53C>A (n.*53C>A) n.2292C>A | gnomAD v4 |
16 | g.15750327G>A | CA493792958 | MYH11 | c.1869C>T (p.Asp623=) c.1890C>T (p.Asp630=) c.*52C>T (n.*52C>T) n.2291C>T | gnomAD v4 |
16 | g.15750327G>C | CA394869231 | MYH11 | c.1869C>G (p.Asp623Glu) c.1890C>G (p.Asp630Glu) c.*52C>G (n.*52C>G) n.2291C>G | |
16 | g.15750327G>T | CA394869232 | MYH11 | c.1869C>A (p.Asp623Glu) c.1890C>A (p.Asp630Glu) c.*52C>A (n.*52C>A) n.2291C>A | gnomAD v4 |
16 | g.15750328T>A | CA394869233 | MYH11 | c.1868A>T (p.Asp623Val) c.1889A>T (p.Asp630Val) c.*51A>T (n.*51A>T) n.2290A>T | ClinVar |
16 | g.15750328T>C | CA7922477 | MYH11 | c.1868A>G (p.Asp623Gly) c.1889A>G (p.Asp630Gly) c.*51A>G (n.*51A>G) n.2290A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.15750328T>G | CA394869234 | MYH11 | c.1868A>C (p.Asp623Ala) c.1889A>C (p.Asp630Ala) c.*51A>C (n.*51A>C) n.2290A>C | |
16 | g.15750328T= | CA2209930470 | MYH11 | c.1868A= (p.Asp623=) c.1889A= (p.Asp630=) c.*51A= (n.*51A=) n.2290A= |