| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153592547C>A | CA16609136 | CCNQ | c.616G>T (p.Glu206Ter) c.193+2000G>T c.277+3457G>T c.437G>T c.*492G>T (n.*492G>T) c.586G>T (p.Glu196Ter) c.490G>T (p.Glu164Ter) n.2521G>T | ClinVar dbSNP |
| X | g.153592547C= | CA2466399730 | CCNQ | c.616G= (p.Glu206=) c.193+2000G= c.277+3457G= c.437G= c.*492G= (n.*492G=) c.586G= (p.Glu196=) c.490G= (p.Glu164=) n.2521G= | |
| X | g.153592547C>G | CA415087437 | CCNQ | c.616G>C (p.Glu206Gln) c.193+2000G>C c.277+3457G>C c.437G>C c.*492G>C (n.*492G>C) c.586G>C (p.Glu196Gln) c.490G>C (p.Glu164Gln) n.2521G>C | |
| X | g.153592547C>T | CA415087433 | CCNQ | c.616G>A (p.Glu206Lys) c.193+2000G>A c.277+3457G>A c.437G>A c.*492G>A (n.*492G>A) c.586G>A (p.Glu196Lys) c.490G>A (p.Glu164Lys) n.2521G>A | |
| X | g.153592548A= | CA2466399731 | CCNQ | c.615T= (p.Val205=) c.193+1999T= c.277+3456T= c.436T= c.*491T= (n.*491T=) c.585T= (p.Val195=) c.489T= (p.Val163=) n.2520T= | |
| X | g.153592548A>C | CA519213546 | CCNQ | c.615T>G (p.Val205=) c.193+1999T>G c.277+3456T>G c.436T>G c.*491T>G (n.*491T>G) c.585T>G (p.Val195=) c.489T>G (p.Val163=) n.2520T>G | |
| X | g.153592548A>G | CA519213547 | CCNQ | c.615T>C (p.Val205=) c.193+1999T>C c.277+3456T>C c.436T>C c.*491T>C (n.*491T>C) c.585T>C (p.Val195=) c.489T>C (p.Val163=) n.2520T>C | |
| X | g.153592548A>T | CA519213548 | CCNQ | c.615T>A (p.Val205=) c.193+1999T>A c.277+3456T>A c.436T>A c.*491T>A (n.*491T>A) c.585T>A (p.Val195=) c.489T>A (p.Val163=) n.2520T>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153592549A>C | CA415087442 | CCNQ | c.614T>G (p.Val205Gly) c.193+1998T>G c.277+3455T>G c.435T>G c.*490T>G (n.*490T>G) c.584T>G (p.Val195Gly) c.488T>G (p.Val163Gly) n.2519T>G | |
| X | g.153592549A>G | CA415087444 | CCNQ | c.614T>C (p.Val205Ala) c.193+1998T>C c.277+3455T>C c.435T>C c.*490T>C (n.*490T>C) c.584T>C (p.Val195Ala) c.488T>C (p.Val163Ala) n.2519T>C | |
| X | g.153592549A>T | CA415087449 | CCNQ | c.614T>A (p.Val205Asp) c.193+1998T>A c.277+3455T>A c.435T>A c.*490T>A (n.*490T>A) c.584T>A (p.Val195Asp) c.488T>A (p.Val163Asp) n.2519T>A | |
| X | g.153592550C>A | CA415087451 | CCNQ | c.613G>T (p.Val205Phe) c.193+1997G>T c.277+3454G>T c.434G>T c.*489G>T (n.*489G>T) c.583G>T (p.Val195Phe) c.487G>T (p.Val163Phe) n.2518G>T | |
| X | g.153592550C>G | CA415087456 | CCNQ | c.613G>C (p.Val205Leu) c.193+1997G>C c.277+3454G>C c.434G>C c.*489G>C (n.*489G>C) c.583G>C (p.Val195Leu) c.487G>C (p.Val163Leu) n.2518G>C | |
| X | g.153592550C>T | CA415087459 | CCNQ | c.613G>A (p.Val205Ile) c.193+1997G>A c.277+3454G>A c.434G>A c.*489G>A (n.*489G>A) c.583G>A (p.Val195Ile) c.487G>A (p.Val163Ile) n.2518G>A | |
| X | g.153592551T>A | CA519213558 | CCNQ | c.612A>T (p.Gly204=) c.193+1996A>T c.277+3453A>T c.433A>T c.*488A>T (n.*488A>T) c.582A>T (p.Gly194=) c.486A>T (p.Gly162=) n.2517A>T | |
| X | g.153592551T>C | CA519213560 | CCNQ | c.612A>G (p.Gly204=) c.193+1996A>G c.277+3453A>G c.433A>G c.*488A>G (n.*488A>G) c.582A>G (p.Gly194=) c.486A>G (p.Gly162=) n.2517A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153592551T>G | CA519213562 | CCNQ | c.612A>C (p.Gly204=) c.193+1996A>C c.277+3453A>C c.433A>C c.*488A>C (n.*488A>C) c.582A>C (p.Gly194=) c.486A>C (p.Gly162=) n.2517A>C | |
| X | g.153592551T= | CA2466399732 | CCNQ | c.612A= (p.Gly204=) c.193+1996A= c.277+3453A= c.433A= c.*488A= (n.*488A=) c.582A= (p.Gly194=) c.486A= (p.Gly162=) n.2517A= | |
| X | g.153592552C>A | CA415087462 | CCNQ | c.611G>T (p.Gly204Val) c.193+1995G>T c.277+3452G>T c.432G>T c.*487G>T (n.*487G>T) c.581G>T (p.Gly194Val) c.485G>T (p.Gly162Val) n.2516G>T | |
| X | g.153592552C>G | CA415087464 | CCNQ | c.611G>C (p.Gly204Ala) c.193+1995G>C c.277+3452G>C c.432G>C c.*487G>C (n.*487G>C) c.581G>C (p.Gly194Ala) c.485G>C (p.Gly162Ala) n.2516G>C | |
| X | g.153592552C>T | CA415087466 | CCNQ | c.611G>A (p.Gly204Glu) c.193+1995G>A c.277+3452G>A c.432G>A c.*487G>A (n.*487G>A) c.581G>A (p.Gly194Glu) c.485G>A (p.Gly162Glu) n.2516G>A | |
| X | g.153592553C>A | CA415087469 | CCNQ | c.610G>T (p.Gly204Ter) c.193+1994G>T c.277+3451G>T c.431G>T c.*486G>T (n.*486G>T) c.580G>T (p.Gly194Ter) c.484G>T (p.Gly162Ter) n.2515G>T | |
| X | g.153592553C>G | CA415087471 | CCNQ | c.610G>C (p.Gly204Arg) c.193+1994G>C c.277+3451G>C c.431G>C c.*486G>C (n.*486G>C) c.580G>C (p.Gly194Arg) c.484G>C (p.Gly162Arg) n.2515G>C | |
| X | g.153592553C>T | CA415087473 | CCNQ | c.610G>A (p.Gly204Arg) c.193+1994G>A c.277+3451G>A c.431G>A c.*486G>A (n.*486G>A) c.580G>A (p.Gly194Arg) c.484G>A (p.Gly162Arg) n.2515G>A | gnomAD v4 |
| X | g.153592554G>A | CA10548380 | CCNQ | c.609C>T (p.Tyr203=) c.193+1993C>T c.277+3450C>T c.430C>T c.*485C>T (n.*485C>T) c.579C>T (p.Tyr193=) c.483C>T (p.Tyr161=) n.2514C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153592554G>C | CA415087481 | CCNQ | c.609C>G (p.Tyr203Ter) c.193+1993C>G c.277+3450C>G c.430C>G c.*485C>G (n.*485C>G) c.579C>G (p.Tyr193Ter) c.483C>G (p.Tyr161Ter) n.2514C>G | |
| X | g.153592554G= | CA2466399733 | CCNQ | c.609C= (p.Tyr203=) c.193+1993C= c.277+3450C= c.430C= c.*485C= (n.*485C=) c.579C= (p.Tyr193=) c.483C= (p.Tyr161=) n.2514C= | |
| X | g.153592554G>T | CA415087475 | CCNQ | c.609C>A (p.Tyr203Ter) c.193+1993C>A c.277+3450C>A c.430C>A c.*485C>A (n.*485C>A) c.579C>A (p.Tyr193Ter) c.483C>A (p.Tyr161Ter) n.2514C>A | |
| 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 |