UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153592555T>A | CA415087487 | CCNQ | c.608A>T (p.Tyr203Phe) c.193+1992A>T c.277+3449A>T c.429A>T c.*484A>T (n.*484A>T) c.578A>T (p.Tyr193Phe) c.482A>T (p.Tyr161Phe) n.2513A>T | |
| X | g.153592555T>C | CA415087484 | CCNQ | c.608A>G (p.Tyr203Cys) c.193+1992A>G c.277+3449A>G c.429A>G c.*484A>G (n.*484A>G) c.578A>G (p.Tyr193Cys) c.482A>G (p.Tyr161Cys) n.2513A>G | |
| X | g.153592555T>G | CA415087485 | CCNQ | c.608A>C (p.Tyr203Ser) c.193+1992A>C c.277+3449A>C c.429A>C c.*484A>C (n.*484A>C) c.578A>C (p.Tyr193Ser) c.482A>C (p.Tyr161Ser) n.2513A>C | |
| X | g.153592556A>C | CA415087489 | CCNQ | c.607T>G (p.Tyr203Asp) c.193+1991T>G c.277+3448T>G c.428T>G c.*483T>G (n.*483T>G) c.577T>G (p.Tyr193Asp) c.481T>G (p.Tyr161Asp) n.2512T>G | |
| X | g.153592556A>G | CA415087491 | CCNQ | c.607T>C (p.Tyr203His) c.193+1991T>C c.277+3448T>C c.428T>C c.*483T>C (n.*483T>C) c.577T>C (p.Tyr193His) c.481T>C (p.Tyr161His) n.2512T>C | |
| X | g.153592556A>T | CA415087493 | CCNQ | c.607T>A (p.Tyr203Asn) c.193+1991T>A c.277+3448T>A c.428T>A c.*483T>A (n.*483T>A) c.577T>A (p.Tyr193Asn) c.481T>A (p.Tyr161Asn) n.2512T>A | |
| X | g.153592557del | CA2602661417 | CCNQ | c.606del (p.Tyr203ThrfsTer?) c.193+1990del c.277+3447del c.427del c.*482del (n.*482del) c.576del (p.Tyr193ThrfsTer?) c.480del (p.Tyr161ThrfsTer?) n.2511del | gnomAD v3 gnomAD v4 |
| X | g.153592557G>A | CA519213597 | CCNQ | c.606C>T (p.Val202=) c.193+1990C>T c.277+3447C>T c.427C>T c.*482C>T (n.*482C>T) c.576C>T (p.Val192=) c.480C>T (p.Val160=) n.2511C>T | |
| X | g.153592557G>C | CA519213599 | CCNQ | c.606C>G (p.Val202=) c.193+1990C>G c.277+3447C>G c.427C>G c.*482C>G (n.*482C>G) c.576C>G (p.Val192=) c.480C>G (p.Val160=) n.2511C>G | gnomAD v4 |
| X | g.153592557G>T | CA519213601 | CCNQ | c.606C>A (p.Val202=) c.193+1990C>A c.277+3447C>A c.427C>A c.*482C>A (n.*482C>A) c.576C>A (p.Val192=) c.480C>A (p.Val160=) n.2511C>A | |
| X | g.153592558A= | CA2466399734 | CCNQ | c.605T= (p.Val202=) c.193+1989T= c.277+3446T= c.426T= c.*481T= (n.*481T=) c.575T= (p.Val192=) c.479T= (p.Val160=) n.2510T= | |
| X | g.153592558A>C | CA415087496 | CCNQ | c.605T>G (p.Val202Gly) c.193+1989T>G c.277+3446T>G c.426T>G c.*481T>G (n.*481T>G) c.575T>G (p.Val192Gly) c.479T>G (p.Val160Gly) n.2510T>G | |
| X | g.153592558A>G | CA415087498 | CCNQ | c.605T>C (p.Val202Ala) c.193+1989T>C c.277+3446T>C c.426T>C c.*481T>C (n.*481T>C) c.575T>C (p.Val192Ala) c.479T>C (p.Val160Ala) n.2510T>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153592558A>T | CA415087500 | CCNQ | c.605T>A (p.Val202Asp) c.193+1989T>A c.277+3446T>A c.426T>A c.*481T>A (n.*481T>A) c.575T>A (p.Val192Asp) c.479T>A (p.Val160Asp) n.2510T>A | |
| X | g.153592559C>A | CA10548381 | CCNQ | c.604G>T (p.Val202Phe) c.193+1988G>T c.277+3445G>T c.425G>T c.*480G>T (n.*480G>T) c.574G>T (p.Val192Phe) c.478G>T (p.Val160Phe) n.2509G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153592559C= | CA2466399735 | CCNQ | c.604G= (p.Val202=) c.193+1988G= c.277+3445G= c.425G= c.*480G= (n.*480G=) c.574G= (p.Val192=) c.478G= (p.Val160=) n.2509G= | |
| X | g.153592559C>G | CA415087503 | CCNQ | c.604G>C (p.Val202Leu) c.193+1988G>C c.277+3445G>C c.425G>C c.*480G>C (n.*480G>C) c.574G>C (p.Val192Leu) c.478G>C (p.Val160Leu) n.2509G>C | |
| X | g.153592559C>T | CA415087504 | CCNQ | c.604G>A (p.Val202Ile) c.193+1988G>A c.277+3445G>A c.425G>A c.*480G>A (n.*480G>A) c.574G>A (p.Val192Ile) c.478G>A (p.Val160Ile) n.2509G>A | |
| X | g.153592560C>A | CA415087506 | CCNQ | c.603G>T (p.Gln201His) c.193+1987G>T c.277+3444G>T c.424G>T c.*479G>T (n.*479G>T) c.573G>T (p.Gln191His) c.477G>T (p.Gln159His) n.2508G>T | |
| X | g.153592560C>G | CA415087507 | CCNQ | c.603G>C (p.Gln201His) c.193+1987G>C c.277+3444G>C c.424G>C c.*479G>C (n.*479G>C) c.573G>C (p.Gln191His) c.477G>C (p.Gln159His) n.2508G>C | |
| X | g.153592560C>T | CA519213610 | CCNQ | c.603G>A (p.Gln201=) c.193+1987G>A c.277+3444G>A c.424G>A c.*479G>A (n.*479G>A) c.573G>A (p.Gln191=) c.477G>A (p.Gln159=) n.2508G>A | gnomAD v4 |
| X | g.153592561T>A | CA415087513 | CCNQ | c.602A>T (p.Gln201Leu) c.193+1986A>T c.277+3443A>T c.423A>T c.*478A>T (n.*478A>T) c.572A>T (p.Gln191Leu) c.476A>T (p.Gln159Leu) n.2507A>T | |
| X | g.153592561T>C | CA415087508 | CCNQ | c.602A>G (p.Gln201Arg) c.193+1986A>G c.277+3443A>G c.423A>G c.*478A>G (n.*478A>G) c.572A>G (p.Gln191Arg) c.476A>G (p.Gln159Arg) n.2507A>G | gnomAD v4 |
| X | g.153592561T>G | CA415087510 | CCNQ | c.602A>C (p.Gln201Pro) c.193+1986A>C c.277+3443A>C c.423A>C c.*478A>C (n.*478A>C) c.572A>C (p.Gln191Pro) c.476A>C (p.Gln159Pro) n.2507A>C | |
| X | g.153592562G>A | CA415087516 | CCNQ | c.601C>T (p.Gln201Ter) c.193+1985C>T c.277+3442C>T c.422C>T c.*477C>T (n.*477C>T) c.571C>T (p.Gln191Ter) c.475C>T (p.Gln159Ter) n.2506C>T | COSMIC |
| X | g.153592562G>C | CA415087519 | CCNQ | c.601C>G (p.Gln201Glu) c.193+1985C>G c.277+3442C>G c.422C>G c.*477C>G (n.*477C>G) c.571C>G (p.Gln191Glu) c.475C>G (p.Gln159Glu) n.2506C>G | gnomAD v4 |
| X | g.153592562G>T | CA415087522 | CCNQ | c.601C>A (p.Gln201Lys) c.193+1985C>A c.277+3442C>A c.422C>A c.*477C>A (n.*477C>A) c.571C>A (p.Gln191Lys) c.475C>A (p.Gln159Lys) n.2506C>A | |
| X | g.153592563C>A | CA519213626 | CCNQ | c.600G>T (p.Leu200=) c.193+1984G>T c.277+3441G>T c.421G>T c.*476G>T (n.*476G>T) c.570G>T (p.Leu190=) c.474G>T (p.Leu158=) n.2505G>T | |
| X | g.153592563C>G | CA519213627 | CCNQ | c.600G>C (p.Leu200=) c.193+1984G>C c.277+3441G>C c.421G>C c.*476G>C (n.*476G>C) c.570G>C (p.Leu190=) c.474G>C (p.Leu158=) n.2505G>C | |
| X | g.153592563C>T | CA519213628 | CCNQ | c.600G>A (p.Leu200=) c.193+1984G>A c.277+3441G>A c.421G>A c.*476G>A (n.*476G>A) c.570G>A (p.Leu190=) c.474G>A (p.Leu158=) n.2505G>A | |
| X | g.153592564A>C | CA415087526 | CCNQ | c.599T>G (p.Leu200Arg) c.193+1983T>G c.277+3440T>G c.420T>G c.*475T>G (n.*475T>G) c.569T>G (p.Leu190Arg) c.473T>G (p.Leu158Arg) n.2504T>G | |
| X | g.153592564A>G | CA415087528 | CCNQ | c.599T>C (p.Leu200Pro) c.193+1983T>C c.277+3440T>C c.420T>C c.*475T>C (n.*475T>C) c.569T>C (p.Leu190Pro) c.473T>C (p.Leu158Pro) n.2504T>C | |
| X | g.153592564A>T | CA415087531 | CCNQ | c.599T>A (p.Leu200Gln) c.193+1983T>A c.277+3440T>A c.420T>A c.*475T>A (n.*475T>A) c.569T>A (p.Leu190Gln) c.473T>A (p.Leu158Gln) n.2504T>A | |
| X | g.153592565G>A | CA10548382 | CCNQ | c.598C>T (p.Leu200=) c.193+1982C>T c.277+3439C>T c.419C>T c.*474C>T (n.*474C>T) c.568C>T (p.Leu190=) c.472C>T (p.Leu158=) n.2503C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153592565G>C | CA415087535 | CCNQ | c.598C>G (p.Leu200Val) c.193+1982C>G c.277+3439C>G c.419C>G c.*474C>G (n.*474C>G) c.568C>G (p.Leu190Val) c.472C>G (p.Leu158Val) n.2503C>G | COSMIC |
| X | g.153592565G= | CA2466399736 | CCNQ | c.598C= (p.Leu200=) c.193+1982C= c.277+3439C= c.419C= c.*474C= (n.*474C=) c.568C= (p.Leu190=) c.472C= (p.Leu158=) n.2503C= | |
| X | g.153592565G>T | CA415087538 | CCNQ | c.598C>A (p.Leu200Met) c.193+1982C>A c.277+3439C>A c.419C>A c.*474C>A (n.*474C>A) c.568C>A (p.Leu190Met) c.472C>A (p.Leu158Met) n.2503C>A | |
| X | g.153592566G>A | CA519213640 | CCNQ | c.597C>T (p.Ala199=) c.193+1981C>T c.277+3438C>T c.418C>T c.*473C>T (n.*473C>T) c.567C>T (p.Ala189=) c.471C>T (p.Ala157=) n.2502C>T | gnomAD v4 |
| X | g.153592566G>C | CA519213645 | CCNQ | c.597C>G (p.Ala199=) c.193+1981C>G c.277+3438C>G c.418C>G c.*473C>G (n.*473C>G) c.567C>G (p.Ala189=) c.471C>G (p.Ala157=) n.2502C>G | |
| X | g.153592566G>T | CA519213642 | CCNQ | c.597C>A (p.Ala199=) c.193+1981C>A c.277+3438C>A c.418C>A c.*473C>A (n.*473C>A) c.567C>A (p.Ala189=) c.471C>A (p.Ala157=) n.2502C>A | |
| X | g.153592567G>A | CA415087541 | CCNQ | c.596C>T (p.Ala199Val) c.193+1980C>T c.277+3437C>T c.417C>T c.*472C>T (n.*472C>T) c.566C>T (p.Ala189Val) c.470C>T (p.Ala157Val) n.2501C>T | |
| X | g.153592567G>C | CA415087544 | CCNQ | c.596C>G (p.Ala199Gly) c.193+1980C>G c.277+3437C>G c.417C>G c.*472C>G (n.*472C>G) c.566C>G (p.Ala189Gly) c.470C>G (p.Ala157Gly) n.2501C>G | |
| X | g.153592567G>T | CA415087547 | CCNQ | c.596C>A (p.Ala199Asp) c.193+1980C>A c.277+3437C>A c.417C>A c.*472C>A (n.*472C>A) c.566C>A (p.Ala189Asp) c.470C>A (p.Ala157Asp) n.2501C>A | |
| X | g.153592568C>A | CA415087550 | CCNQ | c.595G>T (p.Ala199Ser) c.193+1979G>T c.277+3436G>T c.416G>T c.*471G>T (n.*471G>T) c.565G>T (p.Ala189Ser) c.469G>T (p.Ala157Ser) n.2500G>T | |
| X | g.153592568C>G | CA415087553 | CCNQ | c.595G>C (p.Ala199Pro) c.193+1979G>C c.277+3436G>C c.416G>C c.*471G>C (n.*471G>C) c.565G>C (p.Ala189Pro) c.469G>C (p.Ala157Pro) n.2500G>C | |
| X | g.153592568C>T | CA415087551 | CCNQ | c.595G>A (p.Ala199Thr) c.193+1979G>A c.277+3436G>A c.416G>A c.*471G>A (n.*471G>A) c.565G>A (p.Ala189Thr) c.469G>A (p.Ala157Thr) n.2500G>A | |
| X | g.153592569C>A | CA519213660 | CCNQ | c.594G>T (p.Leu198=) c.193+1978G>T c.277+3435G>T c.415G>T c.*470G>T (n.*470G>T) c.564G>T (p.Leu188=) c.468G>T (p.Leu156=) n.2499G>T | |
| X | g.153592569C>G | CA519213661 | CCNQ | c.594G>C (p.Leu198=) c.193+1978G>C c.277+3435G>C c.415G>C c.*470G>C (n.*470G>C) c.564G>C (p.Leu188=) c.468G>C (p.Leu156=) n.2499G>C | |
| X | g.153592569C>T | CA519213662 | CCNQ | c.594G>A (p.Leu198=) c.193+1978G>A c.277+3435G>A c.415G>A c.*470G>A (n.*470G>A) c.564G>A (p.Leu188=) c.468G>A (p.Leu156=) n.2499G>A | gnomAD v4 |
| X | g.153592570A>C | CA415087556 | CCNQ | c.593T>G (p.Leu198Arg) c.193+1977T>G c.277+3434T>G c.414T>G c.*469T>G (n.*469T>G) c.563T>G (p.Leu188Arg) c.467T>G (p.Leu156Arg) n.2498T>G | |
| X | g.153592570A>G | CA415087559 | CCNQ | c.593T>C (p.Leu198Pro) c.193+1977T>C c.277+3434T>C c.414T>C c.*469T>C (n.*469T>C) c.563T>C (p.Leu188Pro) c.467T>C (p.Leu156Pro) n.2498T>C | |
| X | g.153592570A>T | CA415087562 | CCNQ | c.593T>A (p.Leu198Gln) c.193+1977T>A c.277+3434T>A c.414T>A c.*469T>A (n.*469T>A) c.563T>A (p.Leu188Gln) c.467T>A (p.Leu156Gln) n.2498T>A | |
| X | g.153592571G>A | CA519213667 | CCNQ | c.592C>T (p.Leu198=) c.193+1976C>T c.277+3433C>T c.413C>T c.*468C>T (n.*468C>T) c.562C>T (p.Leu188=) c.466C>T (p.Leu156=) n.2497C>T | |
| X | g.153592571G>C | CA415087565 | CCNQ | c.592C>G (p.Leu198Val) c.193+1976C>G c.277+3433C>G c.413C>G c.*468C>G (n.*468C>G) c.562C>G (p.Leu188Val) c.466C>G (p.Leu156Val) n.2497C>G | |
| X | g.153592571G>T | CA415087567 | CCNQ | c.592C>A (p.Leu198Met) c.193+1976C>A c.277+3433C>A c.413C>A c.*468C>A (n.*468C>A) c.562C>A (p.Leu188Met) c.466C>A (p.Leu156Met) n.2497C>A | |
| X | g.153592572G>A | CA519213671 | CCNQ | c.591C>T (p.Tyr197=) c.193+1975C>T c.277+3432C>T c.412C>T c.*467C>T (n.*467C>T) c.561C>T (p.Tyr187=) c.465C>T (p.Tyr155=) n.2496C>T | |
| X | g.153592572G>C | CA415087569 | CCNQ | c.591C>G (p.Tyr197Ter) c.193+1975C>G c.277+3432C>G c.412C>G c.*467C>G (n.*467C>G) c.561C>G (p.Tyr187Ter) c.465C>G (p.Tyr155Ter) n.2496C>G | |
| X | g.153592572G>T | CA415087571 | CCNQ | c.591C>A (p.Tyr197Ter) c.193+1975C>A c.277+3432C>A c.412C>A c.*467C>A (n.*467C>A) c.561C>A (p.Tyr187Ter) c.465C>A (p.Tyr155Ter) n.2496C>A | |
| X | g.153592573T>A | CA415087576 | CCNQ | c.590A>T (p.Tyr197Phe) c.193+1974A>T c.277+3431A>T c.411A>T c.*466A>T (n.*466A>T) c.560A>T (p.Tyr187Phe) c.464A>T (p.Tyr155Phe) n.2495A>T | |
| X | g.153592573T>C | CA415087578 | CCNQ | c.590A>G (p.Tyr197Cys) c.193+1974A>G c.277+3431A>G c.411A>G c.*466A>G (n.*466A>G) c.560A>G (p.Tyr187Cys) c.464A>G (p.Tyr155Cys) n.2495A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.153592573T>G | CA415087580 | CCNQ | c.590A>C (p.Tyr197Ser) c.193+1974A>C c.277+3431A>C c.411A>C c.*466A>C (n.*466A>C) c.560A>C (p.Tyr187Ser) c.464A>C (p.Tyr155Ser) n.2495A>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153592573T= | CA2466399737 | CCNQ | c.590A= (p.Tyr197=) c.193+1974A= c.277+3431A= c.411A= c.*466A= (n.*466A=) c.560A= (p.Tyr187=) c.464A= (p.Tyr155=) n.2495A= | |
| X | g.153592574A>C | CA415087599 | CCNQ | c.589T>G (p.Tyr197Asp) c.193+1973T>G c.277+3430T>G c.410T>G c.*465T>G (n.*465T>G) c.559T>G (p.Tyr187Asp) c.463T>G (p.Tyr155Asp) n.2494T>G | |
| X | g.153592574A>G | CA415087586 | CCNQ | c.589T>C (p.Tyr197His) c.193+1973T>C c.277+3430T>C c.410T>C c.*465T>C (n.*465T>C) c.559T>C (p.Tyr187His) c.463T>C (p.Tyr155His) n.2494T>C | |
| X | g.153592574A>T | CA415087583 | CCNQ | c.589T>A (p.Tyr197Asn) c.193+1973T>A c.277+3430T>A c.410T>A c.*465T>A (n.*465T>A) c.559T>A (p.Tyr187Asn) c.463T>A (p.Tyr155Asn) n.2494T>A | |
| X | g.153592575G>A | CA519213693 | CCNQ | c.588C>T (p.Leu196=) c.193+1972C>T c.277+3429C>T c.409C>T c.*464C>T (n.*464C>T) c.*753C>T (n.*753C>T) c.558C>T (p.Leu186=) c.462C>T (p.Leu154=) n.2493C>T | |
| X | g.153592575G>C | CA519213684 | CCNQ | c.588C>G (p.Leu196=) c.193+1972C>G c.277+3429C>G c.409C>G c.*464C>G (n.*464C>G) c.*753C>G (n.*753C>G) c.558C>G (p.Leu186=) c.462C>G (p.Leu154=) n.2493C>G | dbSNP gnomAD v4 |
| X | g.153592575G= | CA2466399738 | CCNQ | c.588C= (p.Leu196=) c.193+1972C= c.277+3429C= c.409C= c.*464C= (n.*464C=) c.*753C= (n.*753C=) c.558C= (p.Leu186=) c.462C= (p.Leu154=) n.2493C= | |
| X | g.153592575G>T | CA519213690 | CCNQ | c.588C>A (p.Leu196=) c.193+1972C>A c.277+3429C>A c.409C>A c.*464C>A (n.*464C>A) c.*753C>A (n.*753C>A) c.558C>A (p.Leu186=) c.462C>A (p.Leu154=) n.2493C>A | |
| X | g.153592576A>C | CA415087603 | CCNQ | c.587T>G (p.Leu196Arg) c.193+1971T>G c.277+3428T>G c.408T>G c.*463T>G (n.*463T>G) c.*752T>G (n.*752T>G) c.557T>G (p.Leu186Arg) c.461T>G (p.Leu154Arg) n.2492T>G | |
| X | g.153592576A>G | CA415087605 | CCNQ | c.587T>C (p.Leu196Pro) c.193+1971T>C c.277+3428T>C c.408T>C c.*463T>C (n.*463T>C) c.*752T>C (n.*752T>C) c.557T>C (p.Leu186Pro) c.461T>C (p.Leu154Pro) n.2492T>C | |
| X | g.153592576A>T | CA415087606 | CCNQ | c.587T>A (p.Leu196His) c.193+1971T>A c.277+3428T>A c.408T>A c.*463T>A (n.*463T>A) c.*752T>A (n.*752T>A) c.557T>A (p.Leu186His) c.461T>A (p.Leu154His) n.2492T>A | |
| X | g.153592577G>A | CA415087607 | CCNQ | c.586C>T (p.Leu196Phe) c.193+1970C>T c.277+3427C>T c.407C>T c.*462C>T (n.*462C>T) c.*751C>T (n.*751C>T) c.556C>T (p.Leu186Phe) c.460C>T (p.Leu154Phe) n.2491C>T | |
| X | g.153592577G>C | CA415087609 | CCNQ | c.586C>G (p.Leu196Val) c.193+1970C>G c.277+3427C>G c.407C>G c.*462C>G (n.*462C>G) c.*751C>G (n.*751C>G) c.556C>G (p.Leu186Val) c.460C>G (p.Leu154Val) n.2491C>G | |
| X | g.153592577G>T | CA415087618 | CCNQ | c.586C>A (p.Leu196Ile) c.193+1970C>A c.277+3427C>A c.407C>A c.*462C>A (n.*462C>A) c.*751C>A (n.*751C>A) c.556C>A (p.Leu186Ile) c.460C>A (p.Leu154Ile) n.2491C>A | |
| X | g.153592578C>A | CA519213706 | CCNQ | c.585G>T (p.Val195=) c.193+1969G>T c.277+3426G>T c.406G>T c.*461G>T (n.*461G>T) c.*750G>T (n.*750G>T) c.555G>T (p.Val185=) c.459G>T (p.Val153=) n.2490G>T | gnomAD v4 |
| X | g.153592578C>G | CA519213707 | CCNQ | c.585G>C (p.Val195=) c.193+1969G>C c.277+3426G>C c.406G>C c.*461G>C (n.*461G>C) c.*750G>C (n.*750G>C) c.555G>C (p.Val185=) c.459G>C (p.Val153=) n.2490G>C | |
| X | g.153592578C>T | CA519213711 | CCNQ | c.585G>A (p.Val195=) c.193+1969G>A c.277+3426G>A c.406G>A c.*461G>A (n.*461G>A) c.*750G>A (n.*750G>A) c.555G>A (p.Val185=) c.459G>A (p.Val153=) n.2490G>A | |
| X | g.153592579A>C | CA415087622 | CCNQ | c.584T>G (p.Val195Gly) c.193+1968T>G c.277+3425T>G c.405T>G c.*460T>G (n.*460T>G) c.*749T>G (n.*749T>G) c.554T>G (p.Val185Gly) c.458T>G (p.Val153Gly) n.2489T>G | |
| X | g.153592579A>G | CA415087624 | CCNQ | c.584T>C (p.Val195Ala) c.193+1968T>C c.277+3425T>C c.405T>C c.*460T>C (n.*460T>C) c.*749T>C (n.*749T>C) c.554T>C (p.Val185Ala) c.458T>C (p.Val153Ala) n.2489T>C | |
| X | g.153592579A>T | CA415087628 | CCNQ | c.584T>A (p.Val195Glu) c.193+1968T>A c.277+3425T>A c.405T>A c.*460T>A (n.*460T>A) c.*749T>A (n.*749T>A) c.554T>A (p.Val185Glu) c.458T>A (p.Val153Glu) n.2489T>A | |
| X | g.153592580C>A | CA415087632 | CCNQ | c.583G>T (p.Val195Leu) c.193+1967G>T c.277+3424G>T c.404G>T c.*459G>T (n.*459G>T) c.*748G>T (n.*748G>T) c.553G>T (p.Val185Leu) c.457G>T (p.Val153Leu) n.2488G>T | |
| X | g.153592580C= | CA2466399739 | CCNQ | c.583G= (p.Val195=) c.193+1967G= c.277+3424G= c.404G= c.*459G= (n.*459G=) c.*748G= (n.*748G=) c.553G= (p.Val185=) c.457G= (p.Val153=) n.2488G= | |
| X | g.153592580C>G | CA415087634 | CCNQ | c.583G>C (p.Val195Leu) c.193+1967G>C c.277+3424G>C c.404G>C c.*459G>C (n.*459G>C) c.*748G>C (n.*748G>C) c.553G>C (p.Val185Leu) c.457G>C (p.Val153Leu) n.2488G>C | |
| X | g.153592580C>T | CA10548383 | CCNQ | c.583G>A (p.Val195Met) c.193+1967G>A c.277+3424G>A c.404G>A c.*459G>A (n.*459G>A) c.*748G>A (n.*748G>A) c.553G>A (p.Val185Met) c.457G>A (p.Val153Met) n.2488G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153592581C>A | CA519213722 | CCNQ | c.582G>T (p.Ala194=) c.193+1966G>T c.277+3423G>T c.403G>T c.*458G>T (n.*458G>T) c.*747G>T (n.*747G>T) c.552G>T (p.Ala184=) c.456G>T (p.Ala152=) n.2487G>T | |
| X | g.153592581C= | CA2466399740 | CCNQ | c.582G= (p.Ala194=) c.193+1966G= c.277+3423G= c.403G= c.*458G= (n.*458G=) c.*747G= (n.*747G=) c.552G= (p.Ala184=) c.456G= (p.Ala152=) n.2487G= | |
| X | g.153592581C>G | CA519213721 | CCNQ | c.582G>C (p.Ala194=) c.193+1966G>C c.277+3423G>C c.403G>C c.*458G>C (n.*458G>C) c.*747G>C (n.*747G>C) c.552G>C (p.Ala184=) c.456G>C (p.Ala152=) n.2487G>C | |
| X | g.153592581C>T | CA10548384 | CCNQ | c.582G>A (p.Ala194=) c.193+1966G>A c.277+3423G>A c.403G>A c.*458G>A (n.*458G>A) c.*747G>A (n.*747G>A) c.552G>A (p.Ala184=) c.456G>A (p.Ala152=) n.2487G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153592582G>A | CA415087644 | CCNQ | c.581C>T (p.Ala194Val) c.193+1965C>T c.277+3422C>T c.402C>T c.*457C>T (n.*457C>T) c.*746C>T (n.*746C>T) c.551C>T (p.Ala184Val) c.455C>T (p.Ala152Val) n.2486C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.153592582G>C | CA415087640 | CCNQ | c.581C>G (p.Ala194Gly) c.193+1965C>G c.277+3422C>G c.402C>G c.*457C>G (n.*457C>G) c.*746C>G (n.*746C>G) c.551C>G (p.Ala184Gly) c.455C>G (p.Ala152Gly) n.2486C>G | |
| X | g.153592582G= | CA2466399741 | CCNQ | c.581C= (p.Ala194=) c.193+1965C= c.277+3422C= c.402C= c.*457C= (n.*457C=) c.*746C= (n.*746C=) c.551C= (p.Ala184=) c.455C= (p.Ala152=) n.2486C= | |
| X | g.153592582G>T | CA415087642 | CCNQ | c.581C>A (p.Ala194Glu) c.193+1965C>A c.277+3422C>A c.402C>A c.*457C>A (n.*457C>A) c.*746C>A (n.*746C>A) c.551C>A (p.Ala184Glu) c.455C>A (p.Ala152Glu) n.2486C>A | |
| X | g.153592583C>A | CA415087647 | CCNQ | c.580G>T (p.Ala194Ser) c.193+1964G>T c.277+3421G>T c.401G>T c.*456G>T (n.*456G>T) c.*745G>T (n.*745G>T) c.550G>T (p.Ala184Ser) c.454G>T (p.Ala152Ser) n.2485G>T | |
| X | g.153592583C>G | CA415087650 | CCNQ | c.580G>C (p.Ala194Pro) c.193+1964G>C c.277+3421G>C c.401G>C c.*456G>C (n.*456G>C) c.*745G>C (n.*745G>C) c.550G>C (p.Ala184Pro) c.454G>C (p.Ala152Pro) n.2485G>C | |
| X | g.153592583C>T | CA415087653 | CCNQ | c.580G>A (p.Ala194Thr) c.193+1964G>A c.277+3421G>A c.401G>A c.*456G>A (n.*456G>A) c.*745G>A (n.*745G>A) c.550G>A (p.Ala184Thr) c.454G>A (p.Ala152Thr) n.2485G>A | |
| X | g.153592584C>A | CA519213735 | CCNQ | c.579G>T (p.Val193=) c.193+1963G>T c.277+3420G>T c.400G>T c.*455G>T (n.*455G>T) c.*744G>T (n.*744G>T) c.549G>T (p.Val183=) c.453G>T (p.Val151=) n.2484G>T | |
| X | g.153592584C= | CA2466399742 | CCNQ | c.579G= (p.Val193=) c.193+1963G= c.277+3420G= c.400G= c.*455G= (n.*455G=) c.*744G= (n.*744G=) c.549G= (p.Val183=) c.453G= (p.Val151=) n.2484G= | |
| X | g.153592584C>G | CA519213737 | CCNQ | c.579G>C (p.Val193=) c.193+1963G>C c.277+3420G>C c.400G>C c.*455G>C (n.*455G>C) c.*744G>C (n.*744G>C) c.549G>C (p.Val183=) c.453G>C (p.Val151=) n.2484G>C | |
| X | g.153592584C>T | CA519213739 | CCNQ | c.579G>A (p.Val193=) c.193+1963G>A c.277+3420G>A c.400G>A c.*455G>A (n.*455G>A) c.*744G>A (n.*744G>A) c.549G>A (p.Val183=) c.453G>A (p.Val151=) n.2484G>A | dbSNP |
| X | g.153592585A>C | CA415087656 | CCNQ | c.578T>G (p.Val193Gly) c.193+1962T>G c.277+3419T>G c.399T>G c.*454T>G (n.*454T>G) c.*743T>G (n.*743T>G) c.548T>G (p.Val183Gly) c.452T>G (p.Val151Gly) n.2483T>G | |
| X | g.153592585A>G | CA415087659 | CCNQ | c.578T>C (p.Val193Ala) c.193+1962T>C c.277+3419T>C c.399T>C c.*454T>C (n.*454T>C) c.*743T>C (n.*743T>C) c.548T>C (p.Val183Ala) c.452T>C (p.Val151Ala) n.2483T>C | |
| X | g.153592585A>T | CA415087661 | CCNQ | c.578T>A (p.Val193Glu) c.193+1962T>A c.277+3419T>A c.399T>A c.*454T>A (n.*454T>A) c.*743T>A (n.*743T>A) c.548T>A (p.Val183Glu) c.452T>A (p.Val151Glu) n.2483T>A | |
| X | g.153592586C>A | CA415087663 | CCNQ | c.577G>T (p.Val193Leu) c.193+1961G>T c.277+3418G>T c.398G>T c.*453G>T (n.*453G>T) c.*742G>T (n.*742G>T) c.547G>T (p.Val183Leu) c.451G>T (p.Val151Leu) n.2482G>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153592586C= | CA2466399743 | CCNQ | c.577G= (p.Val193=) c.193+1961G= c.277+3418G= c.398G= c.*453G= (n.*453G=) c.*742G= (n.*742G=) c.547G= (p.Val183=) c.451G= (p.Val151=) n.2482G= | |
| X | g.153592586C>G | CA415087666 | CCNQ | c.577G>C (p.Val193Leu) c.193+1961G>C c.277+3418G>C c.398G>C c.*453G>C (n.*453G>C) c.*742G>C (n.*742G>C) c.547G>C (p.Val183Leu) c.451G>C (p.Val151Leu) n.2482G>C | |
| X | g.153592586C>T | CA415087668 | CCNQ | c.577G>A (p.Val193Met) c.193+1961G>A c.277+3418G>A c.398G>A c.*453G>A (n.*453G>A) c.*742G>A (n.*742G>A) c.547G>A (p.Val183Met) c.451G>A (p.Val151Met) n.2482G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153592587G>A | CA337225267 | CCNQ | c.576C>T (p.Ala192=) c.193+1960C>T c.277+3417C>T c.397C>T c.*452C>T (n.*452C>T) c.*741C>T (n.*741C>T) c.546C>T (p.Ala182=) c.450C>T (p.Ala150=) n.2481C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153592587G>C | CA519213750 | CCNQ | c.576C>G (p.Ala192=) c.193+1960C>G c.277+3417C>G c.397C>G c.*452C>G (n.*452C>G) c.*741C>G (n.*741C>G) c.546C>G (p.Ala182=) c.450C>G (p.Ala150=) n.2481C>G | |
| X | g.153592587G= | CA2466399744 | CCNQ | c.576C= (p.Ala192=) c.193+1960C= c.277+3417C= c.397C= c.*452C= (n.*452C=) c.*741C= (n.*741C=) c.546C= (p.Ala182=) c.450C= (p.Ala150=) n.2481C= | |
| X | g.153592587G>T | CA519213753 | CCNQ | c.576C>A (p.Ala192=) c.193+1960C>A c.277+3417C>A c.397C>A c.*452C>A (n.*452C>A) c.*741C>A (n.*741C>A) c.546C>A (p.Ala182=) c.450C>A (p.Ala150=) n.2481C>A | |
| X | g.153592588G>A | CA415087679 | CCNQ | c.575C>T (p.Ala192Val) c.193+1959C>T c.277+3416C>T c.396C>T c.*451C>T (n.*451C>T) c.*740C>T (n.*740C>T) c.545C>T (p.Ala182Val) c.449C>T (p.Ala150Val) n.2480C>T | |
| X | g.153592588G>C | CA415087676 | CCNQ | c.575C>G (p.Ala192Gly) c.193+1959C>G c.277+3416C>G c.396C>G c.*451C>G (n.*451C>G) c.*740C>G (n.*740C>G) c.545C>G (p.Ala182Gly) c.449C>G (p.Ala150Gly) n.2480C>G | |
| X | g.153592588G>T | CA415087675 | CCNQ | c.575C>A (p.Ala192Asp) c.193+1959C>A c.277+3416C>A c.396C>A c.*451C>A (n.*451C>A) c.*740C>A (n.*740C>A) c.545C>A (p.Ala182Asp) c.449C>A (p.Ala150Asp) n.2480C>A | |
| X | g.153592589C>A | CA415087683 | CCNQ | c.574G>T (p.Ala192Ser) c.193+1958G>T c.277+3415G>T c.395G>T c.*450G>T (n.*450G>T) c.*739G>T (n.*739G>T) c.544G>T (p.Ala182Ser) c.448G>T (p.Ala150Ser) n.2479G>T | dbSNP |
| X | g.153592589C= | CA2466399745 | CCNQ | c.574G= (p.Ala192=) c.193+1958G= c.277+3415G= c.395G= c.*450G= (n.*450G=) c.*739G= (n.*739G=) c.544G= (p.Ala182=) c.448G= (p.Ala150=) n.2479G= | |
| X | g.153592589C>G | CA415087686 | CCNQ | c.574G>C (p.Ala192Pro) c.193+1958G>C c.277+3415G>C c.395G>C c.*450G>C (n.*450G>C) c.*739G>C (n.*739G>C) c.544G>C (p.Ala182Pro) c.448G>C (p.Ala150Pro) n.2479G>C | |
| X | g.153592589C>T | CA415087689 | CCNQ | c.574G>A (p.Ala192Thr) c.193+1958G>A c.277+3415G>A c.395G>A c.*450G>A (n.*450G>A) c.*739G>A (n.*739G>A) c.544G>A (p.Ala182Thr) c.448G>A (p.Ala150Thr) n.2479G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153592589_153592590delinsCG | CA2466399746 | CCNQ | c.573_574delinsCG (p.Ile191=) c.193+1957_193+1958delinsCG c.277+3414_277+3415delinsCG c.394_395delinsCG c.*449_*450delinsCG (n.*449_*450delinsCG) c.*738_*739delinsCG (n.*738_*739delinsCG) c.543_544delinsCG (p.Ile181=) c.447_448delinsCG (p.Ile149=) n.2478_2479delinsCG | |
| X | g.153592590del | CA920449877 | CCNQ | c.573del (p.Ile191MetfsTer?) c.193+1957del c.277+3414del c.394del c.*449del (n.*449del) c.*738del (n.*738del) c.543del (p.Ile181MetfsTer?) c.447del (p.Ile149MetfsTer?) n.2478del | dbSNP |
| X | g.153592590G>A | CA10548385 | CCNQ | c.573C>T (p.Ile191=) c.193+1957C>T c.277+3414C>T c.394C>T c.*449C>T (n.*449C>T) c.*738C>T (n.*738C>T) c.543C>T (p.Ile181=) c.447C>T (p.Ile149=) n.2478C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.153592590G>C | CA415087693 | CCNQ | c.573C>G (p.Ile191Met) c.193+1957C>G c.277+3414C>G c.394C>G c.*449C>G (n.*449C>G) c.*738C>G (n.*738C>G) c.543C>G (p.Ile181Met) c.447C>G (p.Ile149Met) n.2478C>G | |
| X | g.153592590G= | CA2466399747 | CCNQ | c.573C= (p.Ile191=) c.193+1957C= c.277+3414C= c.394C= c.*449C= (n.*449C=) c.*738C= (n.*738C=) c.543C= (p.Ile181=) c.447C= (p.Ile149=) n.2478C= | |
| X | g.153592590G>T | CA519213783 | CCNQ | c.573C>A (p.Ile191=) c.193+1957C>A c.277+3414C>A c.394C>A c.*449C>A (n.*449C>A) c.*738C>A (n.*738C>A) c.543C>A (p.Ile181=) c.447C>A (p.Ile149=) n.2478C>A | |
| X | g.153592591A>C | CA415087696 | CCNQ | c.572T>G (p.Ile191Ser) c.193+1956T>G c.277+3413T>G c.393T>G c.*448T>G (n.*448T>G) c.*737T>G (n.*737T>G) c.542T>G (p.Ile181Ser) c.446T>G (p.Ile149Ser) n.2477T>G | |
| X | g.153592591A>G | CA415087698 | CCNQ | c.572T>C (p.Ile191Thr) c.193+1956T>C c.277+3413T>C c.393T>C c.*448T>C (n.*448T>C) c.*737T>C (n.*737T>C) c.542T>C (p.Ile181Thr) c.446T>C (p.Ile149Thr) n.2477T>C | |
| X | g.153592591A>T | CA415087700 | CCNQ | c.572T>A (p.Ile191Asn) c.193+1956T>A c.277+3413T>A c.393T>A c.*448T>A (n.*448T>A) c.*737T>A (n.*737T>A) c.542T>A (p.Ile181Asn) c.446T>A (p.Ile149Asn) n.2477T>A | |
| X | g.153592592T>A | CA415087706 | CCNQ | c.571A>T (p.Ile191Phe) c.193+1955A>T c.277+3412A>T c.392A>T c.*447A>T (n.*447A>T) c.*736A>T (n.*736A>T) c.541A>T (p.Ile181Phe) c.445A>T (p.Ile149Phe) n.2476A>T | |
| X | g.153592592T>C | CA415087707 | CCNQ | c.571A>G (p.Ile191Val) c.193+1955A>G c.277+3412A>G c.392A>G c.*447A>G (n.*447A>G) c.*736A>G (n.*736A>G) c.541A>G (p.Ile181Val) c.445A>G (p.Ile149Val) n.2476A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153592592T>G | CA415087710 | CCNQ | c.571A>C (p.Ile191Leu) c.193+1955A>C c.277+3412A>C c.392A>C c.*447A>C (n.*447A>C) c.*736A>C (n.*736A>C) c.541A>C (p.Ile181Leu) c.445A>C (p.Ile149Leu) n.2476A>C | |
| X | g.153592592T= | CA2466399748 | CCNQ | c.571A= (p.Ile191=) c.193+1955A= c.277+3412A= c.392A= c.*447A= (n.*447A=) c.*736A= (n.*736A=) c.541A= (p.Ile181=) c.445A= (p.Ile149=) n.2476A= | |
| X | g.153592593G>A | CA519213795 | CCNQ | c.570C>T (p.His190=) c.193+1954C>T c.277+3411C>T c.391C>T c.*446C>T (n.*446C>T) c.*735C>T (n.*735C>T) c.540C>T (p.His180=) c.444C>T (p.His148=) n.2475C>T | dbSNP |
| X | g.153592593G>C | CA415087714 | CCNQ | c.570C>G (p.His190Gln) c.193+1954C>G c.277+3411C>G c.391C>G c.*446C>G (n.*446C>G) c.*735C>G (n.*735C>G) c.540C>G (p.His180Gln) c.444C>G (p.His148Gln) n.2475C>G | |
| X | g.153592593G= | CA2466399749 | CCNQ | c.570C= (p.His190=) c.193+1954C= c.277+3411C= c.391C= c.*446C= (n.*446C=) c.*735C= (n.*735C=) c.540C= (p.His180=) c.444C= (p.His148=) n.2475C= | |
| X | g.153592593G>T | CA415087716 | CCNQ | c.570C>A (p.His190Gln) c.193+1954C>A c.277+3411C>A c.391C>A c.*446C>A (n.*446C>A) c.*735C>A (n.*735C>A) c.540C>A (p.His180Gln) c.444C>A (p.His148Gln) n.2475C>A | |
| X | g.153592594T>A | CA415087723 | CCNQ | c.569A>T (p.His190Leu) c.193+1953A>T c.277+3410A>T c.390A>T c.*445A>T (n.*445A>T) c.*734A>T (n.*734A>T) c.539A>T (p.His180Leu) c.443A>T (p.His148Leu) n.2474A>T | |
| X | g.153592594T>C | CA415087726 | CCNQ | c.569A>G (p.His190Arg) c.193+1953A>G c.277+3410A>G c.390A>G c.*445A>G (n.*445A>G) c.*734A>G (n.*734A>G) c.539A>G (p.His180Arg) c.443A>G (p.His148Arg) n.2474A>G | |
| X | g.153592594T>G | CA415087721 | CCNQ | c.569A>C (p.His190Pro) c.193+1953A>C c.277+3410A>C c.390A>C c.*445A>C (n.*445A>C) c.*734A>C (n.*734A>C) c.539A>C (p.His180Pro) c.443A>C (p.His148Pro) n.2474A>C | |
| X | g.153592595G>A | CA415087737 | CCNQ | c.568C>T (p.His190Tyr) c.193+1952C>T c.277+3409C>T c.389C>T c.*444C>T (n.*444C>T) c.*733C>T (n.*733C>T) c.538C>T (p.His180Tyr) c.442C>T (p.His148Tyr) n.2473C>T | |
| X | g.153592595G>C | CA415087740 | CCNQ | c.568C>G (p.His190Asp) c.193+1952C>G c.277+3409C>G c.389C>G c.*444C>G (n.*444C>G) c.*733C>G (n.*733C>G) c.538C>G (p.His180Asp) c.442C>G (p.His148Asp) n.2473C>G | |
| X | g.153592595G>T | CA415087741 | CCNQ | c.568C>A (p.His190Asn) c.193+1952C>A c.277+3409C>A c.389C>A c.*444C>A (n.*444C>A) c.*733C>A (n.*733C>A) c.538C>A (p.His180Asn) c.442C>A (p.His148Asn) n.2473C>A | |
| X | g.153592596C>A | CA415087745 | CCNQ | c.567G>T (p.Gln189His) c.193+1951G>T c.277+3408G>T c.388G>T c.*443G>T (n.*443G>T) c.*732G>T (n.*732G>T) c.537G>T (p.Gln179His) c.441G>T (p.Gln147His) n.2472G>T | |
| X | g.153592596C>G | CA415087748 | CCNQ | c.567G>C (p.Gln189His) c.193+1951G>C c.277+3408G>C c.388G>C c.*443G>C (n.*443G>C) c.*732G>C (n.*732G>C) c.537G>C (p.Gln179His) c.441G>C (p.Gln147His) n.2472G>C | |
| X | g.153592596C>T | CA519213825 | CCNQ | c.567G>A (p.Gln189=) c.193+1951G>A c.277+3408G>A c.388G>A c.*443G>A (n.*443G>A) c.*732G>A (n.*732G>A) c.537G>A (p.Gln179=) c.441G>A (p.Gln147=) n.2472G>A | |
| X | g.153592597T>A | CA415087752 | CCNQ | c.566A>T (p.Gln189Leu) c.193+1950A>T c.277+3407A>T c.387A>T c.*442A>T (n.*442A>T) c.*731A>T (n.*731A>T) c.536A>T (p.Gln179Leu) c.440A>T (p.Gln147Leu) n.2471A>T | |
| X | g.153592597T>C | CA415087754 | CCNQ | c.566A>G (p.Gln189Arg) c.193+1950A>G c.277+3407A>G c.387A>G c.*442A>G (n.*442A>G) c.*731A>G (n.*731A>G) c.536A>G (p.Gln179Arg) c.440A>G (p.Gln147Arg) n.2471A>G | gnomAD v4 |
| X | g.153592597T>G | CA415087762 | CCNQ | c.566A>C (p.Gln189Pro) c.193+1950A>C c.277+3407A>C c.387A>C c.*442A>C (n.*442A>C) c.*731A>C (n.*731A>C) c.536A>C (p.Gln179Pro) c.440A>C (p.Gln147Pro) n.2471A>C | |
| X | g.153592598G>A | CA415087765 | CCNQ | c.565C>T (p.Gln189Ter) c.193+1949C>T c.277+3406C>T c.386C>T c.*441C>T (n.*441C>T) c.*730C>T (n.*730C>T) c.535C>T (p.Gln179Ter) c.439C>T (p.Gln147Ter) n.2470C>T | |
| X | g.153592598G>C | CA415087776 | CCNQ | c.565C>G (p.Gln189Glu) c.193+1949C>G c.277+3406C>G c.386C>G c.*441C>G (n.*441C>G) c.*730C>G (n.*730C>G) c.535C>G (p.Gln179Glu) c.439C>G (p.Gln147Glu) n.2470C>G | |
| X | g.153592598G>T | CA415087778 | CCNQ | c.565C>A (p.Gln189Lys) c.193+1949C>A c.277+3406C>A c.386C>A c.*441C>A (n.*441C>A) c.*730C>A (n.*730C>A) c.535C>A (p.Gln179Lys) c.439C>A (p.Gln147Lys) n.2470C>A | |
| X | g.153592599G>A | CA519213841 | CCNQ | c.564C>T (p.Ala188=) c.193+1948C>T c.277+3405C>T c.385C>T c.*440C>T (n.*440C>T) c.*729C>T (n.*729C>T) c.534C>T (p.Ala178=) c.438C>T (p.Ala146=) n.2469C>T | |
| X | g.153592599G>C | CA519213843 | CCNQ | c.564C>G (p.Ala188=) c.193+1948C>G c.277+3405C>G c.385C>G c.*440C>G (n.*440C>G) c.*729C>G (n.*729C>G) c.534C>G (p.Ala178=) c.438C>G (p.Ala146=) n.2469C>G | |
| X | g.153592599G>T | CA519213845 | CCNQ | c.564C>A (p.Ala188=) c.193+1948C>A c.277+3405C>A c.385C>A c.*440C>A (n.*440C>A) c.*729C>A (n.*729C>A) c.534C>A (p.Ala178=) c.438C>A (p.Ala146=) n.2469C>A | |
| X | g.153592600G>A | CA415087786 | CCNQ | c.563C>T (p.Ala188Val) c.193+1947C>T c.277+3404C>T c.384C>T c.*439C>T (n.*439C>T) c.*728C>T (n.*728C>T) c.533C>T (p.Ala178Val) c.437C>T (p.Ala146Val) n.2468C>T | |
| X | g.153592600G>C | CA415087781 | CCNQ | c.563C>G (p.Ala188Gly) c.193+1947C>G c.277+3404C>G c.384C>G c.*439C>G (n.*439C>G) c.*728C>G (n.*728C>G) c.533C>G (p.Ala178Gly) c.437C>G (p.Ala146Gly) n.2468C>G | |
| X | g.153592600G>T | CA415087784 | CCNQ | c.563C>A (p.Ala188Asp) c.193+1947C>A c.277+3404C>A c.384C>A c.*439C>A (n.*439C>A) c.*728C>A (n.*728C>A) c.533C>A (p.Ala178Asp) c.437C>A (p.Ala146Asp) n.2468C>A | |
| X | g.153592601C>A | CA415087788 | CCNQ | c.562G>T (p.Ala188Ser) c.193+1946G>T c.277+3403G>T c.383G>T c.*438G>T (n.*438G>T) c.*727G>T (n.*727G>T) c.532G>T (p.Ala178Ser) c.436G>T (p.Ala146Ser) n.2467G>T | |
| X | g.153592601C>G | CA415087790 | CCNQ | c.562G>C (p.Ala188Pro) c.193+1946G>C c.277+3403G>C c.383G>C c.*438G>C (n.*438G>C) c.*727G>C (n.*727G>C) c.532G>C (p.Ala178Pro) c.436G>C (p.Ala146Pro) n.2467G>C | COSMIC |
| X | g.153592601C>T | CA415087792 | CCNQ | c.562G>A (p.Ala188Thr) c.193+1946G>A c.277+3403G>A c.383G>A c.*438G>A (n.*438G>A) c.*727G>A (n.*727G>A) c.532G>A (p.Ala178Thr) c.436G>A (p.Ala146Thr) n.2467G>A | |
| X | g.153592602C>A | CA415087796 | CCNQ | c.561G>T (p.Gln187His) c.193+1945G>T c.277+3402G>T c.382G>T c.*437G>T (n.*437G>T) c.*726G>T (n.*726G>T) c.531G>T (p.Gln177His) c.435G>T (p.Gln145His) n.2466G>T | |
| X | g.153592602C>G | CA415087798 | CCNQ | c.561G>C (p.Gln187His) c.193+1945G>C c.277+3402G>C c.382G>C c.*437G>C (n.*437G>C) c.*726G>C (n.*726G>C) c.531G>C (p.Gln177His) c.435G>C (p.Gln145His) n.2466G>C | |
| X | g.153592602C>T | CA519213861 | CCNQ | c.561G>A (p.Gln187=) c.193+1945G>A c.277+3402G>A c.382G>A c.*437G>A (n.*437G>A) c.*726G>A (n.*726G>A) c.531G>A (p.Gln177=) c.435G>A (p.Gln145=) n.2466G>A | |
| X | g.153592603T>A | CA415087801 | CCNQ | c.560A>T (p.Gln187Leu) c.193+1944A>T c.277+3401A>T c.381A>T c.*436A>T (n.*436A>T) c.*725A>T (n.*725A>T) c.530A>T (p.Gln177Leu) c.434A>T (p.Gln145Leu) n.2465A>T | |
| X | g.153592603T>C | CA415087802 | CCNQ | c.560A>G (p.Gln187Arg) c.193+1944A>G c.277+3401A>G c.381A>G c.*436A>G (n.*436A>G) c.*725A>G (n.*725A>G) c.530A>G (p.Gln177Arg) c.434A>G (p.Gln145Arg) n.2465A>G | |
| X | g.153592603T>G | CA415087805 | CCNQ | c.560A>C (p.Gln187Pro) c.193+1944A>C c.277+3401A>C c.381A>C c.*436A>C (n.*436A>C) c.*725A>C (n.*725A>C) c.530A>C (p.Gln177Pro) c.434A>C (p.Gln145Pro) n.2465A>C | |
| X | g.153592604G>A | CA415087809 | CCNQ | c.559C>T (p.Gln187Ter) c.193+1943C>T c.277+3400C>T c.380C>T c.*435C>T (n.*435C>T) c.*724C>T (n.*724C>T) c.529C>T (p.Gln177Ter) c.433C>T (p.Gln145Ter) n.2464C>T | COSMIC |
| X | g.153592604G>C | CA415087811 | CCNQ | c.559C>G (p.Gln187Glu) c.193+1943C>G c.277+3400C>G c.380C>G c.*435C>G (n.*435C>G) c.*724C>G (n.*724C>G) c.529C>G (p.Gln177Glu) c.433C>G (p.Gln145Glu) n.2464C>G | |
| X | g.153592604G= | CA2466399750 | CCNQ | c.559C= (p.Gln187=) c.193+1943C= c.277+3400C= c.380C= c.*435C= (n.*435C=) c.*724C= (n.*724C=) c.529C= (p.Gln177=) c.433C= (p.Gln145=) n.2464C= | |
| X | g.153592604G>T | CA415087812 | CCNQ | c.559C>A (p.Gln187Lys) c.193+1943C>A c.277+3400C>A c.380C>A c.*435C>A (n.*435C>A) c.*724C>A (n.*724C>A) c.529C>A (p.Gln177Lys) c.433C>A (p.Gln145Lys) n.2464C>A | dbSNP |
| X | g.153592605G>A | CA10548386 | CCNQ | c.558C>T (p.Phe186=) c.193+1942C>T c.277+3399C>T c.379C>T c.*434C>T (n.*434C>T) c.*723C>T (n.*723C>T) c.528C>T (p.Phe176=) c.432C>T (p.Phe144=) n.2463C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153592605G>C | CA415087819 | CCNQ | c.558C>G (p.Phe186Leu) c.193+1942C>G c.277+3399C>G c.379C>G c.*434C>G (n.*434C>G) c.*723C>G (n.*723C>G) c.528C>G (p.Phe176Leu) c.432C>G (p.Phe144Leu) n.2463C>G | |
| X | g.153592605G= | CA2466399751 | CCNQ | c.558C= (p.Phe186=) c.193+1942C= c.277+3399C= c.379C= c.*434C= (n.*434C=) c.*723C= (n.*723C=) c.528C= (p.Phe176=) c.432C= (p.Phe144=) n.2463C= | |
| X | g.153592605G>T | CA415087816 | CCNQ | c.558C>A (p.Phe186Leu) c.193+1942C>A c.277+3399C>A c.379C>A c.*434C>A (n.*434C>A) c.*723C>A (n.*723C>A) c.528C>A (p.Phe176Leu) c.432C>A (p.Phe144Leu) n.2463C>A | |
| X | g.153592606A= | CA2466399752 | CCNQ | c.557T= (p.Phe186=) c.193+1941T= c.277+3398T= c.378T= c.*433T= (n.*433T=) c.*722T= (n.*722T=) c.527T= (p.Phe176=) c.431T= (p.Phe144=) n.2462T= | |
| X | g.153592606A>C | CA415087824 | CCNQ | c.557T>G (p.Phe186Cys) c.193+1941T>G c.277+3398T>G c.378T>G c.*433T>G (n.*433T>G) c.*722T>G (n.*722T>G) c.527T>G (p.Phe176Cys) c.431T>G (p.Phe144Cys) n.2462T>G | |
| X | g.153592606A>G | CA415087821 | CCNQ | c.557T>C (p.Phe186Ser) c.193+1941T>C c.277+3398T>C c.378T>C c.*433T>C (n.*433T>C) c.*722T>C (n.*722T>C) c.527T>C (p.Phe176Ser) c.431T>C (p.Phe144Ser) n.2462T>C | |
| X | g.153592606A>T | CA415087826 | CCNQ | c.557T>A (p.Phe186Tyr) c.193+1941T>A c.277+3398T>A c.378T>A c.*433T>A (n.*433T>A) c.*722T>A (n.*722T>A) c.527T>A (p.Phe176Tyr) c.431T>A (p.Phe144Tyr) n.2462T>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153592607A>C | CA415087829 | CCNQ | c.556T>G (p.Phe186Val) c.193+1940T>G c.277+3397T>G c.377T>G c.*432T>G (n.*432T>G) c.*721T>G (n.*721T>G) c.526T>G (p.Phe176Val) c.430T>G (p.Phe144Val) n.2461T>G | |
| X | g.153592607A>G | CA415087832 | CCNQ | c.556T>C (p.Phe186Leu) c.193+1940T>C c.277+3397T>C c.377T>C c.*432T>C (n.*432T>C) c.*721T>C (n.*721T>C) c.526T>C (p.Phe176Leu) c.430T>C (p.Phe144Leu) n.2461T>C | |
| X | g.153592607A>T | CA415087835 | CCNQ | c.556T>A (p.Phe186Ile) c.193+1940T>A c.277+3397T>A c.377T>A c.*432T>A (n.*432T>A) c.*721T>A (n.*721T>A) c.526T>A (p.Phe176Ile) c.430T>A (p.Phe144Ile) n.2461T>A | |
| X | g.153592608G>A | CA519213898 | CCNQ | c.555C>T (p.Arg185=) c.193+1939C>T c.277+3396C>T c.376C>T c.*431C>T (n.*431C>T) c.*720C>T (n.*720C>T) c.525C>T (p.Arg175=) c.429C>T (p.Arg143=) n.2460C>T | |
| X | g.153592608G>C | CA519213900 | CCNQ | c.555C>G (p.Arg185=) c.193+1939C>G c.277+3396C>G c.376C>G c.*431C>G (n.*431C>G) c.*720C>G (n.*720C>G) c.525C>G (p.Arg175=) c.429C>G (p.Arg143=) n.2460C>G | |
| X | g.153592608G>T | CA519213904 | CCNQ | c.555C>A (p.Arg185=) c.193+1939C>A c.277+3396C>A c.376C>A c.*431C>A (n.*431C>A) c.*720C>A (n.*720C>A) c.525C>A (p.Arg175=) c.429C>A (p.Arg143=) n.2460C>A | |
| X | g.153592609C>A | CA415087838 | CCNQ | c.554G>T (p.Arg185Leu) c.193+1938G>T c.277+3395G>T c.375G>T c.*430G>T (n.*430G>T) c.*719G>T (n.*719G>T) c.524G>T (p.Arg175Leu) c.428G>T (p.Arg143Leu) n.2459G>T | |
| X | g.153592609C= | CA2466399753 | CCNQ | c.554G= (p.Arg185=) c.193+1938G= c.277+3395G= c.375G= c.*430G= (n.*430G=) c.*719G= (n.*719G=) c.524G= (p.Arg175=) c.428G= (p.Arg143=) n.2459G= | |
| X | g.153592609C>G | CA415087840 | CCNQ | c.554G>C (p.Arg185Pro) c.193+1938G>C c.277+3395G>C c.375G>C c.*430G>C (n.*430G>C) c.*719G>C (n.*719G>C) c.524G>C (p.Arg175Pro) c.428G>C (p.Arg143Pro) n.2459G>C | |
| X | g.153592609C>T | CA415087843 | CCNQ | c.554G>A (p.Arg185His) c.193+1938G>A c.277+3395G>A c.375G>A c.*430G>A (n.*430G>A) c.*719G>A (n.*719G>A) c.524G>A (p.Arg175His) c.428G>A (p.Arg143His) n.2459G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.153592610G>A | CA415087847 | CCNQ | c.553C>T (p.Arg185Cys) c.193+1937C>T c.277+3394C>T c.374C>T c.*429C>T (n.*429C>T) c.*718C>T (n.*718C>T) c.523C>T (p.Arg175Cys) c.427C>T (p.Arg143Cys) n.2458C>T | gnomAD v4 |
| X | g.153592610G>C | CA415087849 | CCNQ | c.553C>G (p.Arg185Gly) c.193+1937C>G c.277+3394C>G c.374C>G c.*429C>G (n.*429C>G) c.*718C>G (n.*718C>G) c.523C>G (p.Arg175Gly) c.427C>G (p.Arg143Gly) n.2458C>G | |
| X | g.153592610G= | CA2466399754 | CCNQ | c.553C= (p.Arg185=) c.193+1937C= c.277+3394C= c.374C= c.*429C= (n.*429C=) c.*718C= (n.*718C=) c.523C= (p.Arg175=) c.427C= (p.Arg143=) n.2458C= | |
| X | g.153592610G>T | CA337225271 | CCNQ | c.553C>A (p.Arg185Ser) c.193+1937C>A c.277+3394C>A c.374C>A c.*429C>A (n.*429C>A) c.*718C>A (n.*718C>A) c.523C>A (p.Arg175Ser) c.427C>A (p.Arg143Ser) n.2458C>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153592611G>A | CA519213913 | CCNQ | c.552C>T (p.Leu184=) c.193+1936C>T c.277+3393C>T c.373C>T c.*428C>T (n.*428C>T) c.*717C>T (n.*717C>T) c.522C>T (p.Leu174=) c.426C>T (p.Leu142=) n.2457C>T | |
| X | g.153592611G>C | CA519213915 | CCNQ | c.552C>G (p.Leu184=) c.193+1936C>G c.277+3393C>G c.373C>G c.*428C>G (n.*428C>G) c.*717C>G (n.*717C>G) c.522C>G (p.Leu174=) c.426C>G (p.Leu142=) n.2457C>G | |
| X | g.153592611G>T | CA519213918 | CCNQ | c.552C>A (p.Leu184=) c.193+1936C>A c.277+3393C>A c.373C>A c.*428C>A (n.*428C>A) c.*717C>A (n.*717C>A) c.522C>A (p.Leu174=) c.426C>A (p.Leu142=) n.2457C>A | |
| X | g.153592612A>C | CA415087853 | CCNQ | c.551T>G (p.Leu184Arg) c.193+1935T>G c.425T>G c.277+3392T>G c.372T>G c.*427T>G (n.*427T>G) c.*716T>G (n.*716T>G) c.521T>G (p.Leu174Arg) c.425T>G (p.Leu142Arg) n.2456T>G | gnomAD v4 |
| X | g.153592612A>G | CA415087855 | CCNQ | c.551T>C (p.Leu184Pro) c.193+1935T>C c.425T>C c.277+3392T>C c.372T>C c.*427T>C (n.*427T>C) c.*716T>C (n.*716T>C) c.521T>C (p.Leu174Pro) c.425T>C (p.Leu142Pro) n.2456T>C | |
| X | g.153592612A>T | CA415087858 | CCNQ | c.551T>A (p.Leu184His) c.193+1935T>A c.425T>A c.277+3392T>A c.372T>A c.*427T>A (n.*427T>A) c.*716T>A (n.*716T>A) c.521T>A (p.Leu174His) c.425T>A (p.Leu142His) n.2456T>A | |
| X | g.153592613G>A | CA415087867 | CCNQ | c.550C>T (p.Leu184Phe) c.193+1934C>T c.424C>T c.277+3391C>T c.371C>T c.*426C>T (n.*426C>T) c.*715C>T (n.*715C>T) c.520C>T (p.Leu174Phe) c.424C>T (p.Leu142Phe) n.2455C>T | |
| X | g.153592613G>C | CA415087862 | CCNQ | c.550C>G (p.Leu184Val) c.193+1934C>G c.424C>G c.277+3391C>G c.371C>G c.*426C>G (n.*426C>G) c.*715C>G (n.*715C>G) c.520C>G (p.Leu174Val) c.424C>G (p.Leu142Val) n.2455C>G | gnomAD v4 |
| X | g.153592613G>T | CA415087865 | CCNQ | c.550C>A (p.Leu184Ile) c.193+1934C>A c.424C>A c.277+3391C>A c.371C>A c.*426C>A (n.*426C>A) c.*715C>A (n.*715C>A) c.520C>A (p.Leu174Ile) c.424C>A (p.Leu142Ile) n.2455C>A | |
| X | g.153592614G>A | CA519213933 | CCNQ | c.549C>T (p.Cys183=) c.193+1933C>T c.423C>T (p.Cys141=) c.277+3390C>T c.370C>T c.*425C>T (n.*425C>T) c.*714C>T (n.*714C>T) c.519C>T (p.Cys173=) n.2454C>T | |
| X | g.153592614G>C | CA415087871 | CCNQ | c.549C>G (p.Cys183Trp) c.193+1933C>G c.423C>G (p.Cys141Trp) c.277+3390C>G c.370C>G c.*425C>G (n.*425C>G) c.*714C>G (n.*714C>G) c.519C>G (p.Cys173Trp) n.2454C>G | |
| X | g.153592614G= | CA2466399755 | CCNQ | c.549C= (p.Cys183=) c.193+1933C= c.423C= (p.Cys141=) c.277+3390C= c.370C= c.*425C= (n.*425C=) c.*714C= (n.*714C=) c.519C= (p.Cys173=) n.2454C= | |
| X | g.153592614G>T | CA415087872 | CCNQ | c.549C>A (p.Cys183Ter) c.193+1933C>A c.423C>A (p.Cys141Ter) c.277+3390C>A c.370C>A c.*425C>A (n.*425C>A) c.*714C>A (n.*714C>A) c.519C>A (p.Cys173Ter) n.2454C>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153592615C>A | CA415087874 | CCNQ | c.548G>T (p.Cys183Phe) c.193+1932G>T c.422G>T (p.Cys141Phe) c.277+3389G>T c.369G>T c.*424G>T (n.*424G>T) c.*713G>T (n.*713G>T) c.518G>T (p.Cys173Phe) n.2453G>T | gnomAD v4 |
| X | g.153592615C= | CA2466399756 | CCNQ | c.548G= (p.Cys183=) c.193+1932G= c.422G= (p.Cys141=) c.277+3389G= c.369G= c.*424G= (n.*424G=) c.*713G= (n.*713G=) c.518G= (p.Cys173=) n.2453G= | |
| X | g.153592615C>G | CA337225278 | CCNQ | c.548G>C (p.Cys183Ser) c.193+1932G>C c.422G>C (p.Cys141Ser) c.277+3389G>C c.369G>C c.*424G>C (n.*424G>C) c.*713G>C (n.*713G>C) c.518G>C (p.Cys173Ser) n.2453G>C | dbSNP |
| X | g.153592615C>T | CA415087876 | CCNQ | c.548G>A (p.Cys183Tyr) c.193+1932G>A c.422G>A (p.Cys141Tyr) c.277+3389G>A c.369G>A c.*424G>A (n.*424G>A) c.*713G>A (n.*713G>A) c.518G>A (p.Cys173Tyr) n.2453G>A | |
| X | g.153592616A>C | CA415087879 | CCNQ | c.547T>G (p.Cys183Gly) c.193+1931T>G c.421T>G (p.Cys141Gly) c.277+3388T>G c.368T>G c.*423T>G (n.*423T>G) c.*712T>G (n.*712T>G) c.517T>G (p.Cys173Gly) n.2452T>G | |
| X | g.153592616A>G | CA415087881 | CCNQ | c.547T>C (p.Cys183Arg) c.193+1931T>C c.421T>C (p.Cys141Arg) c.277+3388T>C c.368T>C c.*423T>C (n.*423T>C) c.*712T>C (n.*712T>C) c.517T>C (p.Cys173Arg) n.2452T>C | |
| X | g.153592616A>T | CA415087883 | CCNQ | c.547T>A (p.Cys183Ser) c.193+1931T>A c.421T>A (p.Cys141Ser) c.277+3388T>A c.368T>A c.*423T>A (n.*423T>A) c.*712T>A (n.*712T>A) c.517T>A (p.Cys173Ser) n.2452T>A | |
| X | g.153592617C>A | CA519213950 | CCNQ | c.546G>T (p.Leu182=) c.193+1930G>T c.420G>T (p.Leu140=) c.277+3387G>T c.367G>T c.*422G>T (n.*422G>T) c.*711G>T (n.*711G>T) c.516G>T (p.Leu172=) n.2451G>T | |
| X | g.153592617C>G | CA519213948 | CCNQ | c.546G>C (p.Leu182=) c.193+1930G>C c.420G>C (p.Leu140=) c.277+3387G>C c.367G>C c.*422G>C (n.*422G>C) c.*711G>C (n.*711G>C) c.516G>C (p.Leu172=) n.2451G>C | |
| X | g.153592617C>T | CA519213946 | CCNQ | c.546G>A (p.Leu182=) c.193+1930G>A c.420G>A (p.Leu140=) c.277+3387G>A c.367G>A c.*422G>A (n.*422G>A) c.*711G>A (n.*711G>A) c.516G>A (p.Leu172=) n.2451G>A | |
| X | g.153592618A>C | CA415087885 | CCNQ | c.545T>G (p.Leu182Arg) c.193+1929T>G c.419T>G (p.Leu140Arg) c.277+3386T>G c.366T>G c.*421T>G (n.*421T>G) c.*710T>G (n.*710T>G) c.515T>G (p.Leu172Arg) n.2450T>G | |
| X | g.153592618A>G | CA415087888 | CCNQ | c.545T>C (p.Leu182Pro) c.193+1929T>C c.419T>C (p.Leu140Pro) c.277+3386T>C c.366T>C c.*421T>C (n.*421T>C) c.*710T>C (n.*710T>C) c.515T>C (p.Leu172Pro) n.2450T>C | |
| X | g.153592618A>T | CA415087891 | CCNQ | c.545T>A (p.Leu182Gln) c.193+1929T>A c.419T>A (p.Leu140Gln) c.277+3386T>A c.366T>A c.*421T>A (n.*421T>A) c.*710T>A (n.*710T>A) c.515T>A (p.Leu172Gln) n.2450T>A | |
| X | g.153592619G>A | CA519213968 | CCNQ | c.544C>T (p.Leu182=) c.193+1928C>T c.418C>T (p.Leu140=) c.277+3385C>T c.365C>T c.*420C>T (n.*420C>T) c.*709C>T (n.*709C>T) c.514C>T (p.Leu172=) n.2449C>T | dbSNP gnomAD v4 |
| X | g.153592619G>C | CA10548387 | CCNQ | c.544C>G (p.Leu182Val) c.193+1928C>G c.418C>G (p.Leu140Val) c.277+3385C>G c.365C>G c.*420C>G (n.*420C>G) c.*709C>G (n.*709C>G) c.514C>G (p.Leu172Val) n.2449C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153592619G= | CA2466399757 | CCNQ | c.544C= (p.Leu182=) c.193+1928C= c.418C= (p.Leu140=) c.277+3385C= c.365C= c.*420C= (n.*420C=) c.*709C= (n.*709C=) c.514C= (p.Leu172=) n.2449C= | |
| X | g.153592619G>T | CA415087894 | CCNQ | c.544C>A (p.Leu182Met) c.193+1928C>A c.418C>A (p.Leu140Met) c.277+3385C>A c.365C>A c.*420C>A (n.*420C>A) c.*709C>A (n.*709C>A) c.514C>A (p.Leu172Met) n.2449C>A | |
| X | g.153592620C>A | CA519213974 | CCNQ | c.543G>T (p.Ala181=) c.193+1927G>T c.417G>T (p.Ala139=) c.277+3384G>T c.364G>T c.*419G>T (n.*419G>T) c.*708G>T (n.*708G>T) c.513G>T (p.Ala171=) n.2448G>T | |
| X | g.153592620C= | CA2466399758 | CCNQ | c.543G= (p.Ala181=) c.193+1927G= c.417G= (p.Ala139=) c.277+3384G= c.364G= c.*419G= (n.*419G=) c.*708G= (n.*708G=) c.513G= (p.Ala171=) n.2448G= | |
| X | g.153592620C>G | CA519213976 | CCNQ | c.543G>C (p.Ala181=) c.193+1927G>C c.417G>C (p.Ala139=) c.277+3384G>C c.364G>C c.*419G>C (n.*419G>C) c.*708G>C (n.*708G>C) c.513G>C (p.Ala171=) n.2448G>C | gnomAD v4 |
| X | g.153592620C>T | CA519213978 | CCNQ | c.543G>A (p.Ala181=) c.193+1927G>A c.417G>A (p.Ala139=) c.277+3384G>A c.364G>A c.*419G>A (n.*419G>A) c.*708G>A (n.*708G>A) c.513G>A (p.Ala171=) n.2448G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153592621G>A | CA10548389 | CCNQ | c.542C>T (p.Ala181Val) c.193+1926C>T c.416C>T (p.Ala139Val) c.277+3383C>T c.363C>T c.*418C>T (n.*418C>T) c.*707C>T (n.*707C>T) c.512C>T (p.Ala171Val) n.2447C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153592621G>C | CA10548388 | CCNQ | c.542C>G (p.Ala181Gly) c.193+1926C>G c.416C>G (p.Ala139Gly) c.277+3383C>G c.363C>G c.*418C>G (n.*418C>G) c.*707C>G (n.*707C>G) c.512C>G (p.Ala171Gly) n.2447C>G | dbSNP ExAC gnomAD v2 |
| X | g.153592621G= | CA2466399759 | CCNQ | c.542C= (p.Ala181=) c.193+1926C= c.416C= (p.Ala139=) c.277+3383C= c.363C= c.*418C= (n.*418C=) c.*707C= (n.*707C=) c.512C= (p.Ala171=) n.2447C= | |
| X | g.153592621G>T | CA415087900 | CCNQ | c.542C>A (p.Ala181Glu) c.193+1926C>A c.416C>A (p.Ala139Glu) c.277+3383C>A c.363C>A c.*418C>A (n.*418C>A) c.*707C>A (n.*707C>A) c.512C>A (p.Ala171Glu) n.2447C>A | |
| X | g.153592622C>A | CA415087905 | CCNQ | c.541G>T (p.Ala181Ser) c.193+1925G>T c.415G>T (p.Ala139Ser) c.277+3382G>T c.362G>T c.*417G>T (n.*417G>T) c.*706G>T (n.*706G>T) c.511G>T (p.Ala171Ser) n.2446G>T | |
| X | g.153592622C>G | CA415087912 | CCNQ | c.541G>C (p.Ala181Pro) c.193+1925G>C c.415G>C (p.Ala139Pro) c.277+3382G>C c.362G>C c.*417G>C (n.*417G>C) c.*706G>C (n.*706G>C) c.511G>C (p.Ala171Pro) n.2446G>C | |
| X | g.153592622C>T | CA415087915 | CCNQ | c.541G>A (p.Ala181Thr) c.193+1925G>A c.415G>A (p.Ala139Thr) c.277+3382G>A c.362G>A c.*417G>A (n.*417G>A) c.*706G>A (n.*706G>A) c.511G>A (p.Ala171Thr) n.2446G>A | |
| X | g.153592625del | CA645602607 | CCNQ | c.541del (p.Ala181ArgfsTer?) c.193+1925del c.415del (p.Ala139ArgfsTer?) c.277+3382del c.362del c.*417del (n.*417del) c.*706del (n.*706del) c.511del (p.Ala171ArgfsTer?) n.2446del | COSMIC |
| X | g.153592623C>A | CA10548390 | CCNQ | c.540G>T (p.Gly180=) c.193+1924G>T c.414G>T (p.Gly138=) c.277+3381G>T c.361G>T c.*416G>T (n.*416G>T) c.*705G>T (n.*705G>T) c.510G>T (p.Gly170=) n.2445G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153592623C= | CA2466399760 | CCNQ | c.540G= (p.Gly180=) c.193+1924G= c.414G= (p.Gly138=) c.277+3381G= c.361G= c.*416G= (n.*416G=) c.*705G= (n.*705G=) c.510G= (p.Gly170=) n.2445G= | |
| X | g.153592623C>G | CA519214010 | CCNQ | c.540G>C (p.Gly180=) c.193+1924G>C c.414G>C (p.Gly138=) c.277+3381G>C c.361G>C c.*416G>C (n.*416G>C) c.*705G>C (n.*705G>C) c.510G>C (p.Gly170=) n.2445G>C | |
| X | g.153592623C>T | CA519214005 | CCNQ | c.540G>A (p.Gly180=) c.193+1924G>A c.414G>A (p.Gly138=) c.277+3381G>A c.361G>A c.*416G>A (n.*416G>A) c.*705G>A (n.*705G>A) c.510G>A (p.Gly170=) n.2445G>A | |
| X | g.153592624C>A | CA415087921 | CCNQ | c.539G>T (p.Gly180Val) c.193+1923G>T c.413G>T (p.Gly138Val) c.277+3380G>T c.360G>T c.*415G>T (n.*415G>T) c.*704G>T (n.*704G>T) c.509G>T (p.Gly170Val) n.2444G>T | |
| X | g.153592624C>G | CA415087924 | CCNQ | c.539G>C (p.Gly180Ala) c.193+1923G>C c.413G>C (p.Gly138Ala) c.277+3380G>C c.360G>C c.*415G>C (n.*415G>C) c.*704G>C (n.*704G>C) c.509G>C (p.Gly170Ala) n.2444G>C | |
| X | g.153592624C>T | CA415087927 | CCNQ | c.539G>A (p.Gly180Glu) c.193+1923G>A c.413G>A (p.Gly138Glu) c.277+3380G>A c.360G>A c.*415G>A (n.*415G>A) c.*704G>A (n.*704G>A) c.509G>A (p.Gly170Glu) n.2444G>A | gnomAD v4 |
| X | g.153592625C>A | CA415087933 | CCNQ | c.538G>T (p.Gly180Trp) c.193+1922G>T c.412G>T (p.Gly138Trp) c.277+3379G>T c.359G>T c.*414G>T (n.*414G>T) c.*703G>T (n.*703G>T) c.508G>T (p.Gly170Trp) n.2443G>T | |
| X | g.153592625C= | CA2466399761 | CCNQ | c.538G= (p.Gly180=) c.193+1922G= c.412G= (p.Gly138=) c.277+3379G= c.359G= c.*414G= (n.*414G=) c.*703G= (n.*703G=) c.508G= (p.Gly170=) n.2443G= | |
| X | g.153592625C>G | CA415087935 | CCNQ | c.538G>C (p.Gly180Arg) c.193+1922G>C c.412G>C (p.Gly138Arg) c.277+3379G>C c.359G>C c.*414G>C (n.*414G>C) c.*703G>C (n.*703G>C) c.508G>C (p.Gly170Arg) n.2443G>C | |
| X | g.153592625C>T | CA415087938 | CCNQ | c.538G>A (p.Gly180Arg) c.193+1922G>A c.412G>A (p.Gly138Arg) c.277+3379G>A c.359G>A c.*414G>A (n.*414G>A) c.*703G>A (n.*703G>A) c.508G>A (p.Gly170Arg) n.2443G>A | ClinVar dbSNP gnomAD v4 |
| X | g.153592626del | CA2824267945 | CCNQ | c.537del (p.His179GlnfsTer?) c.193+1921del c.411del (p.His137GlnfsTer?) c.277+3378del c.358del c.*413del (n.*413del) c.*702del (n.*702del) c.507del (p.His169GlnfsTer?) n.2442del | |
| X | g.153592626A>C | CA415087941 | CCNQ | c.537T>G (p.His179Gln) c.193+1921T>G c.411T>G (p.His137Gln) c.277+3378T>G c.358T>G c.*413T>G (n.*413T>G) c.*702T>G (n.*702T>G) c.507T>G (p.His169Gln) n.2442T>G | |
| X | g.153592626A>G | CA519214038 | CCNQ | c.537T>C (p.His179=) c.193+1921T>C c.411T>C (p.His137=) c.277+3378T>C c.358T>C c.*413T>C (n.*413T>C) c.*702T>C (n.*702T>C) c.507T>C (p.His169=) n.2442T>C | |
| X | g.153592626A>T | CA415087940 | CCNQ | c.537T>A (p.His179Gln) c.193+1921T>A c.411T>A (p.His137Gln) c.277+3378T>A c.358T>A c.*413T>A (n.*413T>A) c.*702T>A (n.*702T>A) c.507T>A (p.His169Gln) n.2442T>A | |
| X | g.153592627T>A | CA415087944 | CCNQ | c.536A>T (p.His179Leu) c.193+1920A>T c.410A>T (p.His137Leu) c.277+3377A>T c.357A>T c.*412A>T (n.*412A>T) c.*701A>T (n.*701A>T) c.506A>T (p.His169Leu) n.2441A>T | |
| X | g.153592627T>C | CA415087946 | CCNQ | c.536A>G (p.His179Arg) c.193+1920A>G c.410A>G (p.His137Arg) c.277+3377A>G c.357A>G c.*412A>G (n.*412A>G) c.*701A>G (n.*701A>G) c.506A>G (p.His169Arg) n.2441A>G | |
| X | g.153592627T>G | CA415087949 | CCNQ | c.536A>C (p.His179Pro) c.193+1920A>C c.410A>C (p.His137Pro) c.277+3377A>C c.357A>C c.*412A>C (n.*412A>C) c.*701A>C (n.*701A>C) c.506A>C (p.His169Pro) n.2441A>C | |
| X | g.153592628G>A | CA415087953 | CCNQ | c.535C>T (p.His179Tyr) c.193+1919C>T c.409C>T (p.His137Tyr) c.277+3376C>T c.356C>T c.*411C>T (n.*411C>T) c.*700C>T (n.*700C>T) c.505C>T (p.His169Tyr) n.2440C>T | dbSNP |
| X | g.153592628G>C | CA415087955 | CCNQ | c.535C>G (p.His179Asp) c.193+1919C>G c.409C>G (p.His137Asp) c.277+3376C>G c.356C>G c.*411C>G (n.*411C>G) c.*700C>G (n.*700C>G) c.505C>G (p.His169Asp) n.2440C>G | |
| X | g.153592628G= | CA2466399762 | CCNQ | c.535C= (p.His179=) c.193+1919C= c.409C= (p.His137=) c.277+3376C= c.356C= c.*411C= (n.*411C=) c.*700C= (n.*700C=) c.505C= (p.His169=) n.2440C= | |
| X | g.153592628G>T | CA415087959 | CCNQ | c.535C>A (p.His179Asn) c.193+1919C>A c.409C>A (p.His137Asn) c.277+3376C>A c.356C>A c.*411C>A (n.*411C>A) c.*700C>A (n.*700C>A) c.505C>A (p.His169Asn) n.2440C>A | |
| X | g.153592629G>A | CA10548391 | CCNQ | c.534C>T (p.Tyr178=) c.193+1918C>T c.408C>T (p.Tyr136=) c.277+3375C>T c.355C>T c.*410C>T (n.*410C>T) c.*699C>T (n.*699C>T) c.504C>T (p.Tyr168=) n.2439C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153592629G>C | CA415087965 | CCNQ | c.534C>G (p.Tyr178Ter) c.193+1918C>G c.408C>G (p.Tyr136Ter) c.277+3375C>G c.355C>G c.*410C>G (n.*410C>G) c.*699C>G (n.*699C>G) c.504C>G (p.Tyr168Ter) n.2439C>G | |
| X | g.153592629G= | CA2466399763 | CCNQ | c.534C= (p.Tyr178=) c.193+1918C= c.408C= (p.Tyr136=) c.277+3375C= c.355C= c.*410C= (n.*410C=) c.*699C= (n.*699C=) c.504C= (p.Tyr168=) n.2439C= | |
| X | g.153592629G>T | CA415087968 | CCNQ | c.534C>A (p.Tyr178Ter) c.193+1918C>A c.408C>A (p.Tyr136Ter) c.277+3375C>A c.355C>A c.*410C>A (n.*410C>A) c.*699C>A (n.*699C>A) c.504C>A (p.Tyr168Ter) n.2439C>A | |
| X | g.153592630T>A | CA415087970 | CCNQ | c.533A>T (p.Tyr178Phe) c.193+1917A>T c.407A>T (p.Tyr136Phe) c.277+3374A>T c.354A>T c.*409A>T (n.*409A>T) c.*698A>T (n.*698A>T) c.503A>T (p.Tyr168Phe) n.2438A>T | |
| X | g.153592630T>C | CA415087972 | CCNQ | c.533A>G (p.Tyr178Cys) c.193+1917A>G c.407A>G (p.Tyr136Cys) c.277+3374A>G c.354A>G c.*409A>G (n.*409A>G) c.*698A>G (n.*698A>G) c.503A>G (p.Tyr168Cys) n.2438A>G | |
| X | g.153592630T>G | CA415087974 | CCNQ | c.533A>C (p.Tyr178Ser) c.193+1917A>C c.407A>C (p.Tyr136Ser) c.277+3374A>C c.354A>C c.*409A>C (n.*409A>C) c.*698A>C (n.*698A>C) c.503A>C (p.Tyr168Ser) n.2438A>C | |
| X | g.153592631A>C | CA415087976 | CCNQ | c.532T>G (p.Tyr178Asp) c.193+1916T>G c.406T>G (p.Tyr136Asp) c.277+3373T>G c.353T>G c.*408T>G (n.*408T>G) c.*697T>G (n.*697T>G) c.502T>G (p.Tyr168Asp) n.2437T>G | |
| X | g.153592631A>G | CA415087980 | CCNQ | c.532T>C (p.Tyr178His) c.193+1916T>C c.406T>C (p.Tyr136His) c.277+3373T>C c.353T>C c.*408T>C (n.*408T>C) c.*697T>C (n.*697T>C) c.502T>C (p.Tyr168His) n.2437T>C | |
| X | g.153592631A>T | CA415087978 | CCNQ | c.532T>A (p.Tyr178Asn) c.193+1916T>A c.406T>A (p.Tyr136Asn) c.277+3373T>A c.353T>A c.*408T>A (n.*408T>A) c.*697T>A (n.*697T>A) c.502T>A (p.Tyr168Asn) n.2437T>A | |
| X | g.153592632G>A | CA519214077 | CCNQ | c.531C>T (p.Ser177=) c.193+1915C>T c.405C>T (p.Ser135=) c.277+3372C>T c.352C>T c.*407C>T (n.*407C>T) c.*696C>T (n.*696C>T) c.501C>T (p.Ser167=) n.2436C>T | |
| X | g.153592632G>C | CA415087981 | CCNQ | c.531C>G (p.Ser177Arg) c.193+1915C>G c.405C>G (p.Ser135Arg) c.277+3372C>G c.352C>G c.*407C>G (n.*407C>G) c.*696C>G (n.*696C>G) c.501C>G (p.Ser167Arg) n.2436C>G | |
| X | g.153592632G>T | CA415087983 | CCNQ | c.531C>A (p.Ser177Arg) c.193+1915C>A c.405C>A (p.Ser135Arg) c.277+3372C>A c.352C>A c.*407C>A (n.*407C>A) c.*696C>A (n.*696C>A) c.501C>A (p.Ser167Arg) n.2436C>A | |
| X | g.153592633C>A | CA415087985 | CCNQ | c.530G>T (p.Ser177Ile) c.193+1914G>T c.404G>T (p.Ser135Ile) c.277+3371G>T c.351G>T c.*406G>T (n.*406G>T) c.*695G>T (n.*695G>T) c.500G>T (p.Ser167Ile) n.2435G>T | |
| X | g.153592633C= | CA2466399764 | CCNQ | c.530G= (p.Ser177=) c.193+1914G= c.404G= (p.Ser135=) c.277+3371G= c.351G= c.*406G= (n.*406G=) c.*695G= (n.*695G=) c.500G= (p.Ser167=) n.2435G= | |
| X | g.153592633C>G | CA10548392 | CCNQ | c.530G>C (p.Ser177Thr) c.193+1914G>C c.404G>C (p.Ser135Thr) c.277+3371G>C c.351G>C c.*406G>C (n.*406G>C) c.*695G>C (n.*695G>C) c.500G>C (p.Ser167Thr) n.2435G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153592633C>T | CA415087988 | CCNQ | c.530G>A (p.Ser177Asn) c.193+1914G>A c.404G>A (p.Ser135Asn) c.277+3371G>A c.351G>A c.*406G>A (n.*406G>A) c.*695G>A (n.*695G>A) c.500G>A (p.Ser167Asn) n.2435G>A | |
| X | g.153592634T>A | CA415087990 | CCNQ | c.529A>T (p.Ser177Cys) c.193+1913A>T c.403A>T (p.Ser135Cys) c.277+3370A>T c.350A>T c.*405A>T (n.*405A>T) c.*694A>T (n.*694A>T) c.499A>T (p.Ser167Cys) n.2434A>T | |
| X | g.153592634T>C | CA415087992 | CCNQ | c.529A>G (p.Ser177Gly) c.193+1913A>G c.403A>G (p.Ser135Gly) c.277+3370A>G c.350A>G c.*405A>G (n.*405A>G) c.*694A>G (n.*694A>G) c.499A>G (p.Ser167Gly) n.2434A>G | gnomAD v4 |
| X | g.153592634T>G | CA415087994 | CCNQ | c.529A>C (p.Ser177Arg) c.193+1913A>C c.403A>C (p.Ser135Arg) c.277+3370A>C c.350A>C c.*405A>C (n.*405A>C) c.*694A>C (n.*694A>C) c.499A>C (p.Ser167Arg) n.2434A>C | |
| X | g.153592635G>A | CA519214090 | CCNQ | c.528C>T (p.Asp176=) c.193+1912C>T c.402C>T (p.Asp134=) c.277+3369C>T c.349C>T c.*404C>T (n.*404C>T) c.*693C>T (n.*693C>T) c.498C>T (p.Asp166=) n.2433C>T | |
| X | g.153592635G>C | CA415087995 | CCNQ | c.528C>G (p.Asp176Glu) c.193+1912C>G c.402C>G (p.Asp134Glu) c.277+3369C>G c.349C>G c.*404C>G (n.*404C>G) c.*693C>G (n.*693C>G) c.498C>G (p.Asp166Glu) n.2433C>G | |
| X | g.153592635G>T | CA415087997 | CCNQ | c.528C>A (p.Asp176Glu) c.193+1912C>A c.402C>A (p.Asp134Glu) c.277+3369C>A c.349C>A c.*404C>A (n.*404C>A) c.*693C>A (n.*693C>A) c.498C>A (p.Asp166Glu) n.2433C>A | |
| X | g.153592636T>A | CA415087999 | CCNQ | c.527A>T (p.Asp176Val) c.193+1911A>T c.401A>T (p.Asp134Val) c.277+3368A>T c.348A>T c.*403A>T (n.*403A>T) c.*692A>T (n.*692A>T) c.497A>T (p.Asp166Val) n.2432A>T | |
| X | g.153592636T>C | CA415088001 | CCNQ | c.527A>G (p.Asp176Gly) c.193+1911A>G c.401A>G (p.Asp134Gly) c.277+3368A>G c.348A>G c.*403A>G (n.*403A>G) c.*692A>G (n.*692A>G) c.497A>G (p.Asp166Gly) n.2432A>G | |
| X | g.153592636T>G | CA415088003 | CCNQ | c.527A>C (p.Asp176Ala) c.193+1911A>C c.401A>C (p.Asp134Ala) c.277+3368A>C c.348A>C c.*403A>C (n.*403A>C) c.*692A>C (n.*692A>C) c.497A>C (p.Asp166Ala) n.2432A>C | |
| X | g.153592637C>A | CA415088010 | CCNQ | c.526G>T (p.Asp176Tyr) c.193+1910G>T c.400G>T (p.Asp134Tyr) c.277+3367G>T c.347G>T c.*402G>T (n.*402G>T) c.*691G>T (n.*691G>T) c.496G>T (p.Asp166Tyr) n.2431G>T | COSMIC |
| X | g.153592637C>G | CA415088006 | CCNQ | c.526G>C (p.Asp176His) c.193+1910G>C c.400G>C (p.Asp134His) c.277+3367G>C c.347G>C c.*402G>C (n.*402G>C) c.*691G>C (n.*691G>C) c.496G>C (p.Asp166His) n.2431G>C | |
| X | g.153592637C>T | CA415088008 | CCNQ | c.526G>A (p.Asp176Asn) c.193+1910G>A c.400G>A (p.Asp134Asn) c.277+3367G>A c.347G>A c.*402G>A (n.*402G>A) c.*691G>A (n.*691G>A) c.496G>A (p.Asp166Asn) n.2431G>A | |
| X | g.153592638C>A | CA519214106 | CCNQ | c.525G>T (p.Arg175=) c.193+1909G>T c.399G>T (p.Arg133=) c.277+3366G>T c.346G>T c.*401G>T (n.*401G>T) c.*690G>T (n.*690G>T) c.495G>T (p.Arg165=) n.2430G>T | |
| X | g.153592638C= | CA2466399765 | CCNQ | c.525G= (p.Arg175=) c.193+1909G= c.399G= (p.Arg133=) c.277+3366G= c.346G= c.*401G= (n.*401G=) c.*690G= (n.*690G=) c.495G= (p.Arg165=) n.2430G= | |
| X | g.153592638C>G | CA519214108 | CCNQ | c.525G>C (p.Arg175=) c.193+1909G>C c.399G>C (p.Arg133=) c.277+3366G>C c.346G>C c.*401G>C (n.*401G>C) c.*690G>C (n.*690G>C) c.495G>C (p.Arg165=) n.2430G>C | |
| X | g.153592638C>T | CA10548393 | CCNQ | c.525G>A (p.Arg175=) c.193+1909G>A c.399G>A (p.Arg133=) c.277+3366G>A c.346G>A c.*401G>A (n.*401G>A) c.*690G>A (n.*690G>A) c.495G>A (p.Arg165=) n.2430G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153592639C>A | CA415088014 | CCNQ | c.524G>T (p.Arg175Leu) c.193+1908G>T c.398G>T (p.Arg133Leu) c.277+3365G>T c.345G>T c.*400G>T (n.*400G>T) c.*689G>T (n.*689G>T) c.494G>T (p.Arg165Leu) n.2429G>T | |
| X | g.153592639C= | CA2466399766 | CCNQ | c.524G= (p.Arg175=) c.193+1908G= c.398G= (p.Arg133=) c.277+3365G= c.345G= c.*400G= (n.*400G=) c.*689G= (n.*689G=) c.494G= (p.Arg165=) n.2429G= | |
| X | g.153592639C>G | CA415088016 | CCNQ | c.524G>C (p.Arg175Pro) c.193+1908G>C c.398G>C (p.Arg133Pro) c.277+3365G>C c.345G>C c.*400G>C (n.*400G>C) c.*689G>C (n.*689G>C) c.494G>C (p.Arg165Pro) n.2429G>C | |
| X | g.153592639C>T | CA337225336 | CCNQ | c.524G>A (p.Arg175Gln) c.193+1908G>A c.398G>A (p.Arg133Gln) c.277+3365G>A c.345G>A c.*400G>A (n.*400G>A) c.*689G>A (n.*689G>A) c.494G>A (p.Arg165Gln) n.2429G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153592640G>A | CA10548394 | CCNQ | c.523C>T (p.Arg175Trp) c.193+1907C>T c.397C>T (p.Arg133Trp) c.277+3364C>T c.344C>T c.*399C>T (n.*399C>T) c.*688C>T (n.*688C>T) c.493C>T (p.Arg165Trp) n.2428C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153592640G>C | CA415088020 | CCNQ | c.523C>G (p.Arg175Gly) c.193+1907C>G c.397C>G (p.Arg133Gly) c.277+3364C>G c.344C>G c.*399C>G (n.*399C>G) c.*688C>G (n.*688C>G) c.493C>G (p.Arg165Gly) n.2428C>G | |
| X | g.153592640G= | CA2466399767 | CCNQ | c.523C= (p.Arg175=) c.193+1907C= c.397C= (p.Arg133=) c.277+3364C= c.344C= c.*399C= (n.*399C=) c.*688C= (n.*688C=) c.493C= (p.Arg165=) n.2428C= | |
| X | g.153592640G>T | CA519214120 | CCNQ | c.523C>A (p.Arg175=) c.193+1907C>A c.397C>A (p.Arg133=) c.277+3364C>A c.344C>A c.*399C>A (n.*399C>A) c.*688C>A (n.*688C>A) c.493C>A (p.Arg165=) n.2428C>A | |
| X | g.153592641C>A | CA519214127 | CCNQ | c.522G>T (p.Leu174=) c.193+1906G>T c.396G>T (p.Leu132=) c.277+3363G>T c.343G>T c.*398G>T (n.*398G>T) c.*687G>T (n.*687G>T) c.492G>T (p.Leu164=) n.2427G>T | |
| X | g.153592641C>G | CA519214129 | CCNQ | c.522G>C (p.Leu174=) c.193+1906G>C c.396G>C (p.Leu132=) c.277+3363G>C c.343G>C c.*398G>C (n.*398G>C) c.*687G>C (n.*687G>C) c.492G>C (p.Leu164=) n.2427G>C | |
| X | g.153592641C>T | CA519214131 | CCNQ | c.522G>A (p.Leu174=) c.193+1906G>A c.396G>A (p.Leu132=) c.277+3363G>A c.343G>A c.*398G>A (n.*398G>A) c.*687G>A (n.*687G>A) c.492G>A (p.Leu164=) n.2427G>A | |
| X | g.153592642A>C | CA415088022 | CCNQ | c.521T>G (p.Leu174Arg) c.193+1905T>G c.395T>G (p.Leu132Arg) c.277+3362T>G c.342T>G c.*397T>G (n.*397T>G) c.*686T>G (n.*686T>G) c.491T>G (p.Leu164Arg) n.2426T>G | |
| X | g.153592642A>G | CA415088024 | CCNQ | c.521T>C (p.Leu174Pro) c.193+1905T>C c.395T>C (p.Leu132Pro) c.277+3362T>C c.342T>C c.*397T>C (n.*397T>C) c.*686T>C (n.*686T>C) c.491T>C (p.Leu164Pro) n.2426T>C | |
| X | g.153592642A>T | CA415088026 | CCNQ | c.521T>A (p.Leu174Gln) c.193+1905T>A c.395T>A (p.Leu132Gln) c.277+3362T>A c.342T>A c.*397T>A (n.*397T>A) c.*686T>A (n.*686T>A) c.491T>A (p.Leu164Gln) n.2426T>A | |
| X | g.153592643G>A | CA519214147 | CCNQ | c.520C>T (p.Leu174=) c.193+1904C>T c.394C>T (p.Leu132=) c.277+3361C>T c.341C>T c.*396C>T (n.*396C>T) c.*685C>T (n.*685C>T) c.490C>T (p.Leu164=) n.2425C>T | |
| X | g.153592643G>C | CA415088028 | CCNQ | c.520C>G (p.Leu174Val) c.193+1904C>G c.394C>G (p.Leu132Val) c.277+3361C>G c.341C>G c.*396C>G (n.*396C>G) c.*685C>G (n.*685C>G) c.490C>G (p.Leu164Val) n.2425C>G | |
| X | g.153592643G>T | CA415088030 | CCNQ | c.520C>A (p.Leu174Met) c.193+1904C>A c.394C>A (p.Leu132Met) c.277+3361C>A c.341C>A c.*396C>A (n.*396C>A) c.*685C>A (n.*685C>A) c.490C>A (p.Leu164Met) n.2425C>A | |
| X | g.153592644C>A | CA519214148 | CCNQ | c.519G>T (p.Leu173=) c.193+1903G>T c.393G>T (p.Leu131=) c.277+3360G>T c.340G>T c.*395G>T (n.*395G>T) c.*684G>T (n.*684G>T) c.489G>T (p.Leu163=) n.2424G>T | |
| X | g.153592644C>G | CA519214165 | CCNQ | c.519G>C (p.Leu173=) c.193+1903G>C c.393G>C (p.Leu131=) c.277+3360G>C c.340G>C c.*395G>C (n.*395G>C) c.*684G>C (n.*684G>C) c.489G>C (p.Leu163=) n.2424G>C | |
| X | g.153592644C>T | CA519214151 | CCNQ | c.519G>A (p.Leu173=) c.193+1903G>A c.393G>A (p.Leu131=) c.277+3360G>A c.340G>A c.*395G>A (n.*395G>A) c.*684G>A (n.*684G>A) c.489G>A (p.Leu163=) n.2424G>A | |
| X | g.153592645A>C | CA415088033 | CCNQ | c.518T>G (p.Leu173Arg) c.193+1902T>G c.392T>G (p.Leu131Arg) c.277+3359T>G c.339T>G c.*394T>G (n.*394T>G) c.*683T>G (n.*683T>G) c.488T>G (p.Leu163Arg) n.2423T>G | |
| X | g.153592645A>G | CA415088038 | CCNQ | c.518T>C (p.Leu173Pro) c.193+1902T>C c.392T>C (p.Leu131Pro) c.277+3359T>C c.339T>C c.*394T>C (n.*394T>C) c.*683T>C (n.*683T>C) c.488T>C (p.Leu163Pro) n.2423T>C | |
| X | g.153592645A>T | CA415088036 | CCNQ | c.518T>A (p.Leu173Gln) c.193+1902T>A c.392T>A (p.Leu131Gln) c.277+3359T>A c.339T>A c.*394T>A (n.*394T>A) c.*683T>A (n.*683T>A) c.488T>A (p.Leu163Gln) n.2423T>A | |
| X | g.153592645_153592661delinsT | CA2695237187 | CCNQ | c.502_518delinsA (p.Val168SerfsTer?) c.193+1886_193+1902delinsA c.376_392delinsA (p.Val126SerfsTer?) c.277+3343_277+3359delinsA c.323_339delinsA c.*378_*394delinsA (n.*378_*394delinsA) c.*667_*683delinsA (n.*667_*683delinsA) c.472_488delinsA (p.Val158SerfsTer?) n.2407_2423delinsA | |
| X | g.153592646G>A | CA519214178 | CCNQ | c.517C>T (p.Leu173=) c.193+1901C>T c.391C>T (p.Leu131=) c.277+3358C>T c.338C>T c.*393C>T (n.*393C>T) c.*682C>T (n.*682C>T) c.487C>T (p.Leu163=) n.2422C>T | |
| X | g.153592646G>C | CA415088041 | CCNQ | c.517C>G (p.Leu173Val) c.193+1901C>G c.391C>G (p.Leu131Val) c.277+3358C>G c.338C>G c.*393C>G (n.*393C>G) c.*682C>G (n.*682C>G) c.487C>G (p.Leu163Val) n.2422C>G | |
| X | g.153592646G>T | CA415088044 | CCNQ | c.517C>A (p.Leu173Met) c.193+1901C>A c.391C>A (p.Leu131Met) c.277+3358C>A c.338C>A c.*393C>A (n.*393C>A) c.*682C>A (n.*682C>A) c.487C>A (p.Leu163Met) n.2422C>A | |
| X | g.153592647G>A | CA519214183 | CCNQ | c.516C>T (p.Ala172=) c.193+1900C>T c.390C>T (p.Ala130=) c.277+3357C>T c.337C>T c.*392C>T (n.*392C>T) c.*681C>T (n.*681C>T) c.486C>T (p.Ala162=) n.2421C>T | |
| X | g.153592647G>C | CA519214187 | CCNQ | c.516C>G (p.Ala172=) c.193+1900C>G c.390C>G (p.Ala130=) c.277+3357C>G c.337C>G c.*392C>G (n.*392C>G) c.*681C>G (n.*681C>G) c.486C>G (p.Ala162=) n.2421C>G | |
| X | g.153592647G>T | CA519214189 | CCNQ | c.516C>A (p.Ala172=) c.193+1900C>A c.390C>A (p.Ala130=) c.277+3357C>A c.337C>A c.*392C>A (n.*392C>A) c.*681C>A (n.*681C>A) c.486C>A (p.Ala162=) n.2421C>A | COSMIC |
| X | g.153592648G>A | CA415088047 | CCNQ | c.515C>T (p.Ala172Val) c.193+1899C>T c.389C>T (p.Ala130Val) c.277+3356C>T c.336C>T c.*391C>T (n.*391C>T) c.*680C>T (n.*680C>T) c.485C>T (p.Ala162Val) n.2420C>T | |
| X | g.153592648G>C | CA415088049 | CCNQ | c.515C>G (p.Ala172Gly) c.193+1899C>G c.389C>G (p.Ala130Gly) c.277+3356C>G c.336C>G c.*391C>G (n.*391C>G) c.*680C>G (n.*680C>G) c.485C>G (p.Ala162Gly) n.2420C>G | ClinVar |
| X | g.153592648G>T | CA415088053 | CCNQ | c.515C>A (p.Ala172Asp) c.193+1899C>A c.389C>A (p.Ala130Asp) c.277+3356C>A c.336C>A c.*391C>A (n.*391C>A) c.*680C>A (n.*680C>A) c.485C>A (p.Ala162Asp) n.2420C>A | |
| X | g.153592649C>A | CA415088056 | CCNQ | c.514G>T (p.Ala172Ser) c.193+1898G>T c.388G>T (p.Ala130Ser) c.277+3355G>T c.335G>T c.*390G>T (n.*390G>T) c.*679G>T (n.*679G>T) c.484G>T (p.Ala162Ser) n.2419G>T | gnomAD v4 COSMIC |
| X | g.153592649C>G | CA415088059 | CCNQ | c.514G>C (p.Ala172Pro) c.193+1898G>C c.388G>C (p.Ala130Pro) c.277+3355G>C c.335G>C c.*390G>C (n.*390G>C) c.*679G>C (n.*679G>C) c.484G>C (p.Ala162Pro) n.2419G>C | |
| X | g.153592649C>T | CA415088061 | CCNQ | c.514G>A (p.Ala172Thr) c.193+1898G>A c.388G>A (p.Ala130Thr) c.277+3355G>A c.335G>A c.*390G>A (n.*390G>A) c.*679G>A (n.*679G>A) c.484G>A (p.Ala162Thr) n.2419G>A | |
| X | g.153592650C>A | CA415088065 | CCNQ | c.513G>T (p.Trp171Cys) c.193+1897G>T c.387G>T (p.Trp129Cys) c.277+3354G>T c.334G>T c.*389G>T (n.*389G>T) c.*678G>T (n.*678G>T) c.483G>T (p.Trp161Cys) n.2418G>T | |
| X | g.153592650C>G | CA415088068 | CCNQ | c.513G>C (p.Trp171Cys) c.193+1897G>C c.387G>C (p.Trp129Cys) c.277+3354G>C c.334G>C c.*389G>C (n.*389G>C) c.*678G>C (n.*678G>C) c.483G>C (p.Trp161Cys) n.2418G>C | |
| X | g.153592650C>T | CA415088070 | CCNQ | c.513G>A (p.Trp171Ter) c.193+1897G>A c.387G>A (p.Trp129Ter) c.277+3354G>A c.334G>A c.*389G>A (n.*389G>A) c.*678G>A (n.*678G>A) c.483G>A (p.Trp161Ter) n.2418G>A | |
| X | g.153592651C>A | CA415088076 | CCNQ | c.512G>T (p.Trp171Leu) c.193+1896G>T c.386G>T (p.Trp129Leu) c.277+3353G>T c.333G>T c.*388G>T (n.*388G>T) c.*677G>T (n.*677G>T) c.482G>T (p.Trp161Leu) n.2417G>T | |
| X | g.153592651C= | CA2466399768 | CCNQ | c.512G= (p.Trp171=) c.193+1896G= c.386G= (p.Trp129=) c.277+3353G= c.333G= c.*388G= (n.*388G=) c.*677G= (n.*677G=) c.482G= (p.Trp161=) n.2417G= | |
| X | g.153592651C>G | CA415088072 | CCNQ | c.512G>C (p.Trp171Ser) c.193+1896G>C c.386G>C (p.Trp129Ser) c.277+3353G>C c.333G>C c.*388G>C (n.*388G>C) c.*677G>C (n.*677G>C) c.482G>C (p.Trp161Ser) n.2417G>C | |
| X | g.153592651C>T | CA415088074 | CCNQ | c.512G>A (p.Trp171Ter) c.193+1896G>A c.386G>A (p.Trp129Ter) c.277+3353G>A c.333G>A c.*388G>A (n.*388G>A) c.*677G>A (n.*677G>A) c.482G>A (p.Trp161Ter) n.2417G>A | dbSNP gnomAD v2 |
| X | g.153592652A>C | CA415088077 | CCNQ | c.511T>G (p.Trp171Gly) c.193+1895T>G c.385T>G (p.Trp129Gly) c.277+3352T>G c.332T>G c.*387T>G (n.*387T>G) c.*676T>G (n.*676T>G) c.481T>G (p.Trp161Gly) n.2416T>G | |
| X | g.153592652A>G | CA415088079 | CCNQ | c.511T>C (p.Trp171Arg) c.193+1895T>C c.385T>C (p.Trp129Arg) c.277+3352T>C c.332T>C c.*387T>C (n.*387T>C) c.*676T>C (n.*676T>C) c.481T>C (p.Trp161Arg) n.2416T>C | |
| X | g.153592652A>T | CA415088081 | CCNQ | c.511T>A (p.Trp171Arg) c.193+1895T>A c.385T>A (p.Trp129Arg) c.277+3352T>A c.332T>A c.*387T>A (n.*387T>A) c.*676T>A (n.*676T>A) c.481T>A (p.Trp161Arg) n.2416T>A | |
| X | g.153592653G>A | CA519214236 | CCNQ | c.510C>T (p.Ala170=) c.193+1894C>T c.384C>T (p.Ala128=) c.277+3351C>T c.331C>T c.*386C>T (n.*386C>T) c.*675C>T (n.*675C>T) c.480C>T (p.Ala160=) n.2415C>T | |
| X | g.153592653G>C | CA519214243 | CCNQ | c.510C>G (p.Ala170=) c.193+1894C>G c.384C>G (p.Ala128=) c.277+3351C>G c.331C>G c.*386C>G (n.*386C>G) c.*675C>G (n.*675C>G) c.480C>G (p.Ala160=) n.2415C>G | |
| X | g.153592653G>T | CA519214247 | CCNQ | c.510C>A (p.Ala170=) c.193+1894C>A c.384C>A (p.Ala128=) c.277+3351C>A c.331C>A c.*386C>A (n.*386C>A) c.*675C>A (n.*675C>A) c.480C>A (p.Ala160=) n.2415C>A | |
| X | g.153592654G>A | CA415088083 | CCNQ | c.509C>T (p.Ala170Val) c.193+1893C>T c.383C>T (p.Ala128Val) c.277+3350C>T c.330C>T c.*385C>T (n.*385C>T) c.*674C>T (n.*674C>T) c.479C>T (p.Ala160Val) n.2414C>T | |
| X | g.153592654G>C | CA415088085 | CCNQ | c.509C>G (p.Ala170Gly) c.193+1893C>G c.383C>G (p.Ala128Gly) c.277+3350C>G c.330C>G c.*385C>G (n.*385C>G) c.*674C>G (n.*674C>G) c.479C>G (p.Ala160Gly) n.2414C>G | |
| X | g.153592654G>T | CA415088087 | CCNQ | c.509C>A (p.Ala170Asp) c.193+1893C>A c.383C>A (p.Ala128Asp) c.277+3350C>A c.330C>A c.*385C>A (n.*385C>A) c.*674C>A (n.*674C>A) c.479C>A (p.Ala160Asp) n.2414C>A | |
| X | g.153592655C>A | CA415088089 | CCNQ | c.508G>T (p.Ala170Ser) c.193+1892G>T c.382G>T (p.Ala128Ser) c.277+3349G>T c.329G>T c.*384G>T (n.*384G>T) c.*673G>T (n.*673G>T) c.478G>T (p.Ala160Ser) n.2413G>T | gnomAD v4 |
| X | g.153592655C= | CA2466399769 | CCNQ | c.508G= (p.Ala170=) c.193+1892G= c.382G= (p.Ala128=) c.277+3349G= c.329G= c.*384G= (n.*384G=) c.*673G= (n.*673G=) c.478G= (p.Ala160=) n.2413G= | |
| X | g.153592655C>G | CA415088092 | CCNQ | c.508G>C (p.Ala170Pro) c.193+1892G>C c.382G>C (p.Ala128Pro) c.277+3349G>C c.329G>C c.*384G>C (n.*384G>C) c.*673G>C (n.*673G>C) c.478G>C (p.Ala160Pro) n.2413G>C | |
| X | g.153592655C>T | CA415088093 | CCNQ | c.508G>A (p.Ala170Thr) c.193+1892G>A c.382G>A (p.Ala128Thr) c.277+3349G>A c.329G>A c.*384G>A (n.*384G>A) c.*673G>A (n.*673G>A) c.478G>A (p.Ala160Thr) n.2413G>A | dbSNP gnomAD v3 gnomAD v4 |