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.153592449_153592451delinsTAC | CA2466399697 | CCNQ | c.657+55_657+57delinsGTA (n.657+55_657+57delinsGTA) c.193+2096_193+2098delinsGTA c.277+3553_277+3555delinsGTA c.478+55_478+57delinsGTA c.*533+55_*533+57delinsGTA (n.*533+55_*533+57delinsGTA) c.627+55_627+57delinsGTA (n.627+55_627+57delinsGTA) c.531+55_531+57delinsGTA (n.531+55_531+57delinsGTA) n.2562+55_2562+57delinsGTA | |
| X | g.153592451_153592452del | CA2466399698 | CCNQ | c.657+55_657+56del (n.657+55_657+56del) c.193+2096_193+2097del c.277+3553_277+3554del c.478+55_478+56del c.*533+55_*533+56del (n.*533+55_*533+56del) c.627+55_627+56del (n.627+55_627+56del) c.531+55_531+56del (n.531+55_531+56del) n.2562+55_2562+56del | dbSNP |
| X | g.153592451C= | CA2466399699 | CCNQ | c.657+55G= (n.657+55G=) c.193+2096G= c.277+3553G= c.478+55G= c.*533+55G= (n.*533+55G=) c.627+55G= (n.627+55G=) c.531+55G= (n.531+55G=) n.2562+55G= | |
| X | g.153592451C>G | CA2466399700 | CCNQ | c.657+55G>C (n.657+55G>C) c.193+2096G>C c.277+3553G>C c.478+55G>C c.*533+55G>C (n.*533+55G>C) c.627+55G>C (n.627+55G>C) c.531+55G>C (n.531+55G>C) n.2562+55G>C | dbSNP |
| X | g.153592455_153592456del | CA2695026085 | CCNQ | c.657+53_657+54del (n.657+53_657+54del) c.193+2094_193+2095del c.277+3551_277+3552del c.478+53_478+54del c.*533+53_*533+54del (n.*533+53_*533+54del) c.627+53_627+54del (n.627+53_627+54del) c.531+53_531+54del (n.531+53_531+54del) n.2562+53_2562+54del | gnomAD v4 |
| X | g.153592453G>T | CA2579728643 | CCNQ | c.657+53C>A (n.657+53C>A) c.193+2094C>A c.277+3551C>A c.478+53C>A c.*533+53C>A (n.*533+53C>A) c.627+53C>A (n.627+53C>A) c.531+53C>A (n.531+53C>A) n.2562+53C>A | gnomAD v4 |
| X | g.153592454A>G | CA2695026086 | CCNQ | c.657+52T>C (n.657+52T>C) c.193+2093T>C c.277+3550T>C c.478+52T>C c.*533+52T>C (n.*533+52T>C) c.627+52T>C (n.627+52T>C) c.531+52T>C (n.531+52T>C) n.2562+52T>C | gnomAD v4 |
| X | g.153592455G= | CA2466399701 | CCNQ | c.657+51C= (n.657+51C=) c.193+2092C= c.277+3549C= c.478+51C= c.*533+51C= (n.*533+51C=) c.627+51C= (n.627+51C=) c.531+51C= (n.531+51C=) n.2562+51C= | |
| X | g.153592458_153592478dup | CA10548368 | CCNQ | c.657+30_657+50dup (n.657+30_657+50dup) c.193+2071_193+2091dup c.277+3528_277+3548dup c.478+30_478+50dup c.*533+30_*533+50dup (n.*533+30_*533+50dup) c.627+30_627+50dup (n.627+30_627+50dup) c.531+30_531+50dup (n.531+30_531+50dup) n.2562+30_2562+50dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153592457C>A | CA2695026089 | CCNQ | c.657+49G>T (n.657+49G>T) c.193+2090G>T c.277+3547G>T c.478+49G>T c.*533+49G>T (n.*533+49G>T) c.627+49G>T (n.627+49G>T) c.531+49G>T (n.531+49G>T) n.2562+49G>T | gnomAD v4 |
| X | g.153592457C= | CA2466399702 | CCNQ | c.657+49G= (n.657+49G=) c.193+2090G= c.277+3547G= c.478+49G= c.*533+49G= (n.*533+49G=) c.627+49G= (n.627+49G=) c.531+49G= (n.531+49G=) n.2562+49G= | |
| X | g.153592457C>G | CA10548369 | CCNQ | c.657+49G>C (n.657+49G>C) c.193+2090G>C c.277+3547G>C c.478+49G>C c.*533+49G>C (n.*533+49G>C) c.627+49G>C (n.627+49G>C) c.531+49G>C (n.531+49G>C) n.2562+49G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153592457C>T | CA2695026088 | CCNQ | c.657+49G>A (n.657+49G>A) c.193+2090G>A c.277+3547G>A c.478+49G>A c.*533+49G>A (n.*533+49G>A) c.627+49G>A (n.627+49G>A) c.531+49G>A (n.531+49G>A) n.2562+49G>A | gnomAD v4 |
| X | g.153592457_153592467del | CA2695026087 | CCNQ | c.657+39_657+49del (n.657+39_657+49del) c.193+2080_193+2090del c.277+3537_277+3547del c.478+39_478+49del c.*533+39_*533+49del (n.*533+39_*533+49del) c.627+39_627+49del (n.627+39_627+49del) c.531+39_531+49del (n.531+39_531+49del) n.2562+39_2562+49del | gnomAD v4 |
| X | g.153592460C= | CA2466399703 | CCNQ | c.657+46G= (n.657+46G=) c.193+2087G= c.277+3544G= c.478+46G= c.*533+46G= (n.*533+46G=) c.627+46G= (n.627+46G=) c.531+46G= (n.531+46G=) n.2562+46G= | |
| X | g.153592460C>T | CA1138538170 | CCNQ | c.657+46G>A (n.657+46G>A) c.193+2087G>A c.277+3544G>A c.478+46G>A c.*533+46G>A (n.*533+46G>A) c.627+46G>A (n.627+46G>A) c.531+46G>A (n.531+46G>A) n.2562+46G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153592464del | CA2579728645 | CCNQ | c.657+42del (n.657+42del) c.193+2083del c.277+3540del c.478+42del c.*533+42del (n.*533+42del) c.627+42del (n.627+42del) c.531+42del (n.531+42del) n.2562+42del | |
| X | g.153592464A>G | CA2579728644 | CCNQ | c.657+42T>C (n.657+42T>C) c.193+2083T>C c.277+3540T>C c.478+42T>C c.*533+42T>C (n.*533+42T>C) c.627+42T>C (n.627+42T>C) c.531+42T>C (n.531+42T>C) n.2562+42T>C | gnomAD v4 |
| X | g.153592465G>T | CA2579728646 | CCNQ | c.657+41C>A (n.657+41C>A) c.193+2082C>A c.277+3539C>A c.478+41C>A c.*533+41C>A (n.*533+41C>A) c.627+41C>A (n.627+41C>A) c.531+41C>A (n.531+41C>A) n.2562+41C>A | |
| X | g.153592466G>T | CA2579728647 | CCNQ | c.657+40C>A (n.657+40C>A) c.193+2081C>A c.277+3538C>A c.478+40C>A c.*533+40C>A (n.*533+40C>A) c.627+40C>A (n.627+40C>A) c.531+40C>A (n.531+40C>A) n.2562+40C>A | |
| X | g.153592467G>A | CA10548370 | CCNQ | c.657+39C>T (n.657+39C>T) c.193+2080C>T c.277+3537C>T c.478+39C>T c.*533+39C>T (n.*533+39C>T) c.627+39C>T (n.627+39C>T) c.531+39C>T (n.531+39C>T) n.2562+39C>T | dbSNP ExAC gnomAD v2 |
| X | g.153592467G= | CA2466399704 | CCNQ | c.657+39C= (n.657+39C=) c.193+2080C= c.277+3537C= c.478+39C= c.*533+39C= (n.*533+39C=) c.627+39C= (n.627+39C=) c.531+39C= (n.531+39C=) n.2562+39C= | |
| X | g.153592467G>T | CA2466399705 | CCNQ | c.657+39C>A (n.657+39C>A) c.193+2080C>A c.277+3537C>A c.478+39C>A c.*533+39C>A (n.*533+39C>A) c.627+39C>A (n.627+39C>A) c.531+39C>A (n.531+39C>A) n.2562+39C>A | dbSNP gnomAD v4 |
| X | g.153592469A>T | CA2741806419 | CCNQ | c.657+37T>A (n.657+37T>A) c.193+2078T>A c.277+3535T>A c.478+37T>A c.*533+37T>A (n.*533+37T>A) c.627+37T>A (n.627+37T>A) c.531+37T>A (n.531+37T>A) n.2562+37T>A | |
| X | g.153592470A= | CA2466399706 | CCNQ | c.657+36T= (n.657+36T=) c.193+2077T= c.277+3534T= c.478+36T= c.*533+36T= (n.*533+36T=) c.627+36T= (n.627+36T=) c.531+36T= (n.531+36T=) n.2562+36T= | |
| X | g.153592471G>T | CA658576095 | CCNQ | c.657+35C>A (n.657+35C>A) c.193+2076C>A c.277+3533C>A c.478+35C>A c.*533+35C>A (n.*533+35C>A) c.627+35C>A (n.627+35C>A) c.531+35C>A (n.531+35C>A) n.2562+35C>A | COSMIC |
| X | g.153592475dup | CA2466399707 | CCNQ | c.657+35dup (n.657+35dup) c.193+2076dup c.277+3533dup c.478+35dup c.*533+35dup (n.*533+35dup) c.627+35dup (n.627+35dup) c.531+35dup (n.531+35dup) n.2562+35dup | dbSNP gnomAD v4 |
| X | g.153592472G>A | CA2695026090 | CCNQ | c.657+34C>T (n.657+34C>T) c.193+2075C>T c.277+3532C>T c.478+34C>T c.*533+34C>T (n.*533+34C>T) c.627+34C>T (n.627+34C>T) c.531+34C>T (n.531+34C>T) n.2562+34C>T | gnomAD v4 |
| X | g.153592472G>T | CA2579728648 | CCNQ | c.657+34C>A (n.657+34C>A) c.193+2075C>A c.277+3532C>A c.478+34C>A c.*533+34C>A (n.*533+34C>A) c.627+34C>A (n.627+34C>A) c.531+34C>A (n.531+34C>A) n.2562+34C>A | |
| X | g.153592473G>C | CA645287494 | CCNQ | c.657+33C>G (n.657+33C>G) c.193+2074C>G c.277+3531C>G c.478+33C>G c.*533+33C>G (n.*533+33C>G) c.627+33C>G (n.627+33C>G) c.531+33C>G (n.531+33C>G) n.2562+33C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153592473G= | CA2466399708 | CCNQ | c.657+33C= (n.657+33C=) c.193+2074C= c.277+3531C= c.478+33C= c.*533+33C= (n.*533+33C=) c.627+33C= (n.627+33C=) c.531+33C= (n.531+33C=) n.2562+33C= | |
| X | g.153592474G>A | CA337225173 | CCNQ | c.657+32C>T (n.657+32C>T) c.193+2073C>T c.277+3530C>T c.478+32C>T c.*533+32C>T (n.*533+32C>T) c.627+32C>T (n.627+32C>T) c.531+32C>T (n.531+32C>T) n.2562+32C>T | dbSNP |
| X | g.153592474G= | CA2466399709 | CCNQ | c.657+32C= (n.657+32C=) c.193+2073C= c.277+3530C= c.478+32C= c.*533+32C= (n.*533+32C=) c.627+32C= (n.627+32C=) c.531+32C= (n.531+32C=) n.2562+32C= | |
| X | g.153592474G>T | CA2695026091 | CCNQ | c.657+32C>A (n.657+32C>A) c.193+2073C>A c.277+3530C>A c.478+32C>A c.*533+32C>A (n.*533+32C>A) c.627+32C>A (n.627+32C>A) c.531+32C>A (n.531+32C>A) n.2562+32C>A | gnomAD v4 |
| X | g.153592475G>A | CA2695026092 | CCNQ | c.657+31C>T (n.657+31C>T) c.193+2072C>T c.277+3529C>T c.478+31C>T c.*533+31C>T (n.*533+31C>T) c.627+31C>T (n.627+31C>T) c.531+31C>T (n.531+31C>T) n.2562+31C>T | gnomAD v4 |
| X | g.153592475G>T | CA2695026093 | CCNQ | c.657+31C>A (n.657+31C>A) c.193+2072C>A c.277+3529C>A c.478+31C>A c.*533+31C>A (n.*533+31C>A) c.627+31C>A (n.627+31C>A) c.531+31C>A (n.531+31C>A) n.2562+31C>A | gnomAD v4 |
| X | g.153592476C>A | CA2695026094 | CCNQ | c.657+30G>T (n.657+30G>T) c.193+2071G>T c.277+3528G>T c.478+30G>T c.*533+30G>T (n.*533+30G>T) c.627+30G>T (n.627+30G>T) c.531+30G>T (n.531+30G>T) n.2562+30G>T | gnomAD v4 |
| X | g.153592476C>T | CA2695026095 | CCNQ | c.657+30G>A (n.657+30G>A) c.193+2071G>A c.277+3528G>A c.478+30G>A c.*533+30G>A (n.*533+30G>A) c.627+30G>A (n.627+30G>A) c.531+30G>A (n.531+30G>A) n.2562+30G>A | gnomAD v4 |
| X | g.153592477A>T | CA2824267927 | CCNQ | c.657+29T>A (n.657+29T>A) c.193+2070T>A c.277+3527T>A c.478+29T>A c.*533+29T>A (n.*533+29T>A) c.627+29T>A (n.627+29T>A) c.531+29T>A (n.531+29T>A) n.2562+29T>A | |
| X | g.153592478C>A | CA2695026096 | CCNQ | c.657+28G>T (n.657+28G>T) c.193+2069G>T c.277+3526G>T c.478+28G>T c.*533+28G>T (n.*533+28G>T) c.627+28G>T (n.627+28G>T) c.531+28G>T (n.531+28G>T) n.2562+28G>T | gnomAD v4 |
| X | g.153592478C= | CA2466399710 | CCNQ | c.657+28G= (n.657+28G=) c.193+2069G= c.277+3526G= c.478+28G= c.*533+28G= (n.*533+28G=) c.627+28G= (n.627+28G=) c.531+28G= (n.531+28G=) n.2562+28G= | |
| X | g.153592478C>T | CA10548371 | CCNQ | c.657+28G>A (n.657+28G>A) c.193+2069G>A c.277+3526G>A c.478+28G>A c.*533+28G>A (n.*533+28G>A) c.627+28G>A (n.627+28G>A) c.531+28G>A (n.531+28G>A) n.2562+28G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153592478dup | CA2824267929 | CCNQ | c.657+28dup (n.657+28dup) c.193+2069dup c.277+3526dup c.478+28dup c.*533+28dup (n.*533+28dup) c.627+28dup (n.627+28dup) c.531+28dup (n.531+28dup) n.2562+28dup | |
| X | g.153592479G>A | CA873269489 | CCNQ | c.657+27C>T (n.657+27C>T) c.193+2068C>T c.277+3525C>T c.478+27C>T c.*533+27C>T (n.*533+27C>T) c.627+27C>T (n.627+27C>T) c.531+27C>T (n.531+27C>T) n.2562+27C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153592479G= | CA2466399711 | CCNQ | c.657+27C= (n.657+27C=) c.193+2068C= c.277+3525C= c.478+27C= c.*533+27C= (n.*533+27C=) c.627+27C= (n.627+27C=) c.531+27C= (n.531+27C=) n.2562+27C= | |
| X | g.153592479G>T | CA2466399712 | CCNQ | c.657+27C>A (n.657+27C>A) c.193+2068C>A c.277+3525C>A c.478+27C>A c.*533+27C>A (n.*533+27C>A) c.627+27C>A (n.627+27C>A) c.531+27C>A (n.531+27C>A) n.2562+27C>A | dbSNP gnomAD v4 |
| X | g.153592483A>G | CA2695026097 | CCNQ | c.657+23T>C (n.657+23T>C) c.193+2064T>C c.277+3521T>C c.478+23T>C c.*533+23T>C (n.*533+23T>C) c.627+23T>C (n.627+23T>C) c.531+23T>C (n.531+23T>C) n.2562+23T>C | gnomAD v4 |
| X | g.153592484G>C | CA2579728649 | CCNQ | c.657+22C>G (n.657+22C>G) c.193+2063C>G c.277+3520C>G c.478+22C>G c.*533+22C>G (n.*533+22C>G) c.627+22C>G (n.627+22C>G) c.531+22C>G (n.531+22C>G) n.2562+22C>G | gnomAD v4 |
| X | g.153592484G>T | CA2695026098 | CCNQ | c.657+22C>A (n.657+22C>A) c.193+2063C>A c.277+3520C>A c.478+22C>A c.*533+22C>A (n.*533+22C>A) c.627+22C>A (n.627+22C>A) c.531+22C>A (n.531+22C>A) n.2562+22C>A | gnomAD v4 |
| X | g.153592486G>A | CA2579728650 | CCNQ | c.657+20C>T (n.657+20C>T) c.193+2061C>T c.277+3518C>T c.478+20C>T c.*533+20C>T (n.*533+20C>T) c.627+20C>T (n.627+20C>T) c.531+20C>T (n.531+20C>T) n.2562+20C>T | gnomAD v4 |
| X | g.153592486G>T | CA2695026099 | CCNQ | c.657+20C>A (n.657+20C>A) c.193+2061C>A c.277+3518C>A c.478+20C>A c.*533+20C>A (n.*533+20C>A) c.627+20C>A (n.627+20C>A) c.531+20C>A (n.531+20C>A) n.2562+20C>A | gnomAD v4 |
| X | g.153592487T>A | CA2579728651 | CCNQ | c.657+19A>T (n.657+19A>T) c.193+2060A>T c.277+3517A>T c.478+19A>T c.*533+19A>T (n.*533+19A>T) c.627+19A>T (n.627+19A>T) c.531+19A>T (n.531+19A>T) n.2562+19A>T | |
| X | g.153592488G>T | CA2579728652 | CCNQ | c.657+18C>A (n.657+18C>A) c.193+2059C>A c.277+3516C>A c.478+18C>A c.*533+18C>A (n.*533+18C>A) c.627+18C>A (n.627+18C>A) c.531+18C>A (n.531+18C>A) n.2562+18C>A | gnomAD v4 |
| X | g.153592489C>T | CA2579728653 | CCNQ | c.657+17G>A (n.657+17G>A) c.193+2058G>A c.277+3515G>A c.478+17G>A c.*533+17G>A (n.*533+17G>A) c.627+17G>A (n.627+17G>A) c.531+17G>A (n.531+17G>A) n.2562+17G>A | gnomAD v4 |
| X | g.153592490C>G | CA2695026100 | CCNQ | c.657+16G>C (n.657+16G>C) c.193+2057G>C c.277+3514G>C c.478+16G>C c.*533+16G>C (n.*533+16G>C) c.627+16G>C (n.627+16G>C) c.531+16G>C (n.531+16G>C) n.2562+16G>C | gnomAD v4 |
| X | g.153592492A>G | CA2695026101 | CCNQ | c.657+14T>C (n.657+14T>C) c.193+2055T>C c.277+3512T>C c.478+14T>C c.*533+14T>C (n.*533+14T>C) c.627+14T>C (n.627+14T>C) c.531+14T>C (n.531+14T>C) n.2562+14T>C | gnomAD v4 |
| X | g.153592496del | CA2695026102 | CCNQ | c.657+10del (n.657+10del) c.193+2051del c.277+3508del c.478+10del c.*533+10del (n.*533+10del) c.627+10del (n.627+10del) c.531+10del (n.531+10del) n.2562+10del | gnomAD v4 |
| X | g.153592496G>A | CA337225192 | CCNQ | c.657+10C>T (n.657+10C>T) c.193+2051C>T c.277+3508C>T c.478+10C>T c.*533+10C>T (n.*533+10C>T) c.627+10C>T (n.627+10C>T) c.531+10C>T (n.531+10C>T) n.2562+10C>T | dbSNP |
| X | g.153592496G= | CA2466399713 | CCNQ | c.657+10C= (n.657+10C=) c.193+2051C= c.277+3508C= c.478+10C= c.*533+10C= (n.*533+10C=) c.627+10C= (n.627+10C=) c.531+10C= (n.531+10C=) n.2562+10C= | |
| X | g.153592497C>T | CA2695026103 | CCNQ | c.657+9G>A (n.657+9G>A) c.193+2050G>A c.277+3507G>A c.478+9G>A c.*533+9G>A (n.*533+9G>A) c.627+9G>A (n.627+9G>A) c.531+9G>A (n.531+9G>A) n.2562+9G>A | gnomAD v4 |
| X | g.153592499A>T | CA2579728654 | CCNQ | c.657+7T>A (n.657+7T>A) c.193+2048T>A c.277+3505T>A c.478+7T>A c.*533+7T>A (n.*533+7T>A) c.627+7T>A (n.627+7T>A) c.531+7T>A (n.531+7T>A) n.2562+7T>A | gnomAD v4 |
| X | g.153592504A>C | CA415087155 | CCNQ | c.657+2T>G (n.657+2T>G) c.193+2043T>G c.277+3500T>G c.478+2T>G c.*533+2T>G (n.*533+2T>G) c.627+2T>G (n.627+2T>G) c.531+2T>G (n.531+2T>G) n.2562+2T>G | |
| X | g.153592504A>G | CA415087156 | CCNQ | c.657+2T>C (n.657+2T>C) c.193+2043T>C c.277+3500T>C c.478+2T>C c.*533+2T>C (n.*533+2T>C) c.627+2T>C (n.627+2T>C) c.531+2T>C (n.531+2T>C) n.2562+2T>C | |
| X | g.153592504A>T | CA415087158 | CCNQ | c.657+2T>A (n.657+2T>A) c.193+2043T>A c.277+3500T>A c.478+2T>A c.*533+2T>A (n.*533+2T>A) c.627+2T>A (n.627+2T>A) c.531+2T>A (n.531+2T>A) n.2562+2T>A | |
| X | g.153592505C>A | CA415087161 | CCNQ | c.657+1G>T (n.657+1G>T) c.193+2042G>T c.277+3499G>T c.478+1G>T c.*533+1G>T (n.*533+1G>T) c.627+1G>T (n.627+1G>T) c.531+1G>T (n.531+1G>T) n.2562+1G>T | |
| X | g.153592505C= | CA2466399714 | CCNQ | c.657+1G= (n.657+1G=) c.193+2042G= c.277+3499G= c.478+1G= c.*533+1G= (n.*533+1G=) c.627+1G= (n.627+1G=) c.531+1G= (n.531+1G=) n.2562+1G= | |
| X | g.153592505C>G | CA415087162 | CCNQ | c.657+1G>C (n.657+1G>C) c.193+2042G>C c.277+3499G>C c.478+1G>C c.*533+1G>C (n.*533+1G>C) c.627+1G>C (n.627+1G>C) c.531+1G>C (n.531+1G>C) n.2562+1G>C | |
| X | g.153592505C>T | CA415087164 | CCNQ | c.657+1G>A (n.657+1G>A) c.193+2042G>A c.277+3499G>A c.478+1G>A c.*533+1G>A (n.*533+1G>A) c.627+1G>A (n.627+1G>A) c.531+1G>A (n.531+1G>A) n.2562+1G>A | ClinVar dbSNP |
| X | g.153592506C>A | CA415087166 | CCNQ | c.657G>T (p.Gln219His) c.193+2041G>T c.277+3498G>T c.478G>T c.*533G>T (n.*533G>T) c.627G>T (p.Gln209His) c.531G>T (p.Gln177His) n.2562G>T | |
| X | g.153592506C>G | CA415087168 | CCNQ | c.657G>C (p.Gln219His) c.193+2041G>C c.277+3498G>C c.478G>C c.*533G>C (n.*533G>C) c.627G>C (p.Gln209His) c.531G>C (p.Gln177His) n.2562G>C | |
| X | g.153592506C>T | CA519213328 | CCNQ | c.657G>A (p.Gln219=) c.193+2041G>A c.277+3498G>A c.478G>A c.*533G>A (n.*533G>A) c.627G>A (p.Gln209=) c.531G>A (p.Gln177=) n.2562G>A | COSMIC |
| X | g.153592507T>A | CA415087174 | CCNQ | c.656A>T (p.Gln219Leu) c.193+2040A>T c.277+3497A>T c.477A>T c.*532A>T (n.*532A>T) c.626A>T (p.Gln209Leu) c.530A>T (p.Gln177Leu) n.2561A>T | |
| X | g.153592507T>C | CA415087171 | CCNQ | c.656A>G (p.Gln219Arg) c.193+2040A>G c.277+3497A>G c.477A>G c.*532A>G (n.*532A>G) c.626A>G (p.Gln209Arg) c.530A>G (p.Gln177Arg) n.2561A>G | gnomAD v3 gnomAD v4 |
| X | g.153592507T>G | CA10548372 | CCNQ | c.656A>C (p.Gln219Pro) c.193+2040A>C c.277+3497A>C c.477A>C c.*532A>C (n.*532A>C) c.626A>C (p.Gln209Pro) c.530A>C (p.Gln177Pro) n.2561A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153592507T= | CA2466399715 | CCNQ | c.656A= (p.Gln219=) c.193+2040A= c.277+3497A= c.477A= c.*532A= (n.*532A=) c.626A= (p.Gln209=) c.530A= (p.Gln177=) n.2561A= | |
| X | g.153592508G>A | CA415087176 | CCNQ | c.655C>T (p.Gln219Ter) c.193+2039C>T c.277+3496C>T c.476C>T c.*531C>T (n.*531C>T) c.625C>T (p.Gln209Ter) c.529C>T (p.Gln177Ter) n.2560C>T | ClinVar dbSNP |
| X | g.153592508G>C | CA415087180 | CCNQ | c.655C>G (p.Gln219Glu) c.193+2039C>G c.277+3496C>G c.476C>G c.*531C>G (n.*531C>G) c.625C>G (p.Gln209Glu) c.529C>G (p.Gln177Glu) n.2560C>G | |
| X | g.153592508G= | CA2466399716 | CCNQ | c.655C= (p.Gln219=) c.193+2039C= c.277+3496C= c.476C= c.*531C= (n.*531C=) c.625C= (p.Gln209=) c.529C= (p.Gln177=) n.2560C= | |
| X | g.153592508G>T | CA415087178 | CCNQ | c.655C>A (p.Gln219Lys) c.193+2039C>A c.277+3496C>A c.476C>A c.*531C>A (n.*531C>A) c.625C>A (p.Gln209Lys) c.529C>A (p.Gln177Lys) n.2560C>A | |
| X | g.153592509C>A | CA415087182 | CCNQ | c.654G>T (p.Trp218Cys) c.193+2038G>T c.277+3495G>T c.475G>T c.*530G>T (n.*530G>T) c.624G>T (p.Trp208Cys) c.528G>T (p.Trp176Cys) n.2559G>T | gnomAD v4 |
| X | g.153592509C>G | CA415087186 | CCNQ | c.654G>C (p.Trp218Cys) c.193+2038G>C c.277+3495G>C c.475G>C c.*530G>C (n.*530G>C) c.624G>C (p.Trp208Cys) c.528G>C (p.Trp176Cys) n.2559G>C | |
| X | g.153592509C>T | CA415087184 | CCNQ | c.654G>A (p.Trp218Ter) c.193+2038G>A c.277+3495G>A c.475G>A c.*530G>A (n.*530G>A) c.624G>A (p.Trp208Ter) c.528G>A (p.Trp176Ter) n.2559G>A | |
| X | g.153592510C>A | CA415087189 | CCNQ | c.653G>T (p.Trp218Leu) c.193+2037G>T c.277+3494G>T c.474G>T c.*529G>T (n.*529G>T) c.623G>T (p.Trp208Leu) c.527G>T (p.Trp176Leu) n.2558G>T | |
| X | g.153592510C>G | CA415087194 | CCNQ | c.653G>C (p.Trp218Ser) c.193+2037G>C c.277+3494G>C c.474G>C c.*529G>C (n.*529G>C) c.623G>C (p.Trp208Ser) c.527G>C (p.Trp176Ser) n.2558G>C | |
| X | g.153592510C>T | CA415087191 | CCNQ | c.653G>A (p.Trp218Ter) c.193+2037G>A c.277+3494G>A c.474G>A c.*529G>A (n.*529G>A) c.623G>A (p.Trp208Ter) c.527G>A (p.Trp176Ter) n.2558G>A | |
| X | g.153592511A>C | CA415087197 | CCNQ | c.652T>G (p.Trp218Gly) c.193+2036T>G c.277+3493T>G c.473T>G c.*528T>G (n.*528T>G) c.622T>G (p.Trp208Gly) c.526T>G (p.Trp176Gly) n.2557T>G | |
| X | g.153592511A>G | CA415087200 | CCNQ | c.652T>C (p.Trp218Arg) c.193+2036T>C c.277+3493T>C c.473T>C c.*528T>C (n.*528T>C) c.622T>C (p.Trp208Arg) c.526T>C (p.Trp176Arg) n.2557T>C | |
| X | g.153592511A>T | CA415087204 | CCNQ | c.652T>A (p.Trp218Arg) c.193+2036T>A c.277+3493T>A c.473T>A c.*528T>A (n.*528T>A) c.622T>A (p.Trp208Arg) c.526T>A (p.Trp176Arg) n.2557T>A | |
| X | g.153592512C>A | CA415087207 | CCNQ | c.651G>T (p.Trp217Cys) c.193+2035G>T c.277+3492G>T c.472G>T c.*527G>T (n.*527G>T) c.621G>T (p.Trp207Cys) c.525G>T (p.Trp175Cys) n.2556G>T | |
| X | g.153592512C>G | CA415087210 | CCNQ | c.651G>C (p.Trp217Cys) c.193+2035G>C c.277+3492G>C c.472G>C c.*527G>C (n.*527G>C) c.621G>C (p.Trp207Cys) c.525G>C (p.Trp175Cys) n.2556G>C | |
| X | g.153592512C>T | CA415087211 | CCNQ | c.651G>A (p.Trp217Ter) c.193+2035G>A c.277+3492G>A c.472G>A c.*527G>A (n.*527G>A) c.621G>A (p.Trp207Ter) c.525G>A (p.Trp175Ter) n.2556G>A | ClinVar dbSNP |
| X | g.153592513C>A | CA415087212 | CCNQ | c.650G>T (p.Trp217Leu) c.193+2034G>T c.277+3491G>T c.471G>T c.*526G>T (n.*526G>T) c.620G>T (p.Trp207Leu) c.524G>T (p.Trp175Leu) n.2555G>T | |
| X | g.153592513C>G | CA415087213 | CCNQ | c.650G>C (p.Trp217Ser) c.193+2034G>C c.277+3491G>C c.471G>C c.*526G>C (n.*526G>C) c.620G>C (p.Trp207Ser) c.524G>C (p.Trp175Ser) n.2555G>C | gnomAD v4 |
| X | g.153592513C>T | CA415087215 | CCNQ | c.650G>A (p.Trp217Ter) c.193+2034G>A c.277+3491G>A c.471G>A c.*526G>A (n.*526G>A) c.620G>A (p.Trp207Ter) c.524G>A (p.Trp175Ter) n.2555G>A | COSMIC |
| X | g.153592514A>C | CA415087223 | CCNQ | c.649T>G (p.Trp217Gly) c.193+2033T>G c.277+3490T>G c.470T>G c.*525T>G (n.*525T>G) c.619T>G (p.Trp207Gly) c.523T>G (p.Trp175Gly) n.2554T>G | |
| X | g.153592514A>G | CA415087219 | CCNQ | c.649T>C (p.Trp217Arg) c.193+2033T>C c.277+3490T>C c.470T>C c.*525T>C (n.*525T>C) c.619T>C (p.Trp207Arg) c.523T>C (p.Trp175Arg) n.2554T>C | |
| X | g.153592514A>T | CA415087217 | CCNQ | c.649T>A (p.Trp217Arg) c.193+2033T>A c.277+3490T>A c.470T>A c.*525T>A (n.*525T>A) c.619T>A (p.Trp207Arg) c.523T>A (p.Trp175Arg) n.2554T>A | |
| X | g.153592515C>A | CA519213365 | CCNQ | c.648G>T (p.Pro216=) c.193+2032G>T c.277+3489G>T c.469G>T c.*524G>T (n.*524G>T) c.618G>T (p.Pro206=) c.522G>T (p.Pro174=) n.2553G>T | |
| X | g.153592515C= | CA2466399717 | CCNQ | c.648G= (p.Pro216=) c.193+2032G= c.277+3489G= c.469G= c.*524G= (n.*524G=) c.618G= (p.Pro206=) c.522G= (p.Pro174=) n.2553G= | |
| X | g.153592515C>G | CA519213367 | CCNQ | c.648G>C (p.Pro216=) c.193+2032G>C c.277+3489G>C c.469G>C c.*524G>C (n.*524G>C) c.618G>C (p.Pro206=) c.522G>C (p.Pro174=) n.2553G>C | |
| X | g.153592515C>T | CA10548373 | CCNQ | c.648G>A (p.Pro216=) c.193+2032G>A c.277+3489G>A c.469G>A c.*524G>A (n.*524G>A) c.618G>A (p.Pro206=) c.522G>A (p.Pro174=) n.2553G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.153592516G>A | CA10548374 | CCNQ | c.647C>T (p.Pro216Leu) c.193+2031C>T c.277+3488C>T c.468C>T c.*523C>T (n.*523C>T) c.617C>T (p.Pro206Leu) c.521C>T (p.Pro174Leu) n.2552C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153592516G>C | CA415087227 | CCNQ | c.647C>G (p.Pro216Arg) c.193+2031C>G c.277+3488C>G c.468C>G c.*523C>G (n.*523C>G) c.617C>G (p.Pro206Arg) c.521C>G (p.Pro174Arg) n.2552C>G | |
| X | g.153592516G= | CA2466399718 | CCNQ | c.647C= (p.Pro216=) c.193+2031C= c.277+3488C= c.468C= c.*523C= (n.*523C=) c.617C= (p.Pro206=) c.521C= (p.Pro174=) n.2552C= | |
| X | g.153592516G>T | CA415087230 | CCNQ | c.647C>A (p.Pro216Gln) c.193+2031C>A c.277+3488C>A c.468C>A c.*523C>A (n.*523C>A) c.617C>A (p.Pro206Gln) c.521C>A (p.Pro174Gln) n.2552C>A | |
| X | g.153592517G>A | CA415087233 | CCNQ | c.646C>T (p.Pro216Ser) c.193+2030C>T c.277+3487C>T c.467C>T c.*522C>T (n.*522C>T) c.616C>T (p.Pro206Ser) c.520C>T (p.Pro174Ser) n.2551C>T | |
| X | g.153592517G>C | CA415087237 | CCNQ | c.646C>G (p.Pro216Ala) c.193+2030C>G c.277+3487C>G c.467C>G c.*522C>G (n.*522C>G) c.616C>G (p.Pro206Ala) c.520C>G (p.Pro174Ala) n.2551C>G | |
| X | g.153592517G>T | CA415087240 | CCNQ | c.646C>A (p.Pro216Thr) c.193+2030C>A c.277+3487C>A c.467C>A c.*522C>A (n.*522C>A) c.616C>A (p.Pro206Thr) c.520C>A (p.Pro174Thr) n.2551C>A | |
| X | g.153592518C>A | CA415087244 | CCNQ | c.645G>T (p.Lys215Asn) c.193+2029G>T c.277+3486G>T c.466G>T c.*521G>T (n.*521G>T) c.615G>T (p.Lys205Asn) c.519G>T (p.Lys173Asn) n.2550G>T | |
| X | g.153592518C= | CA2466399719 | CCNQ | c.645G= (p.Lys215=) c.193+2029G= c.277+3486G= c.466G= c.*521G= (n.*521G=) c.615G= (p.Lys205=) c.519G= (p.Lys173=) n.2550G= | |
| X | g.153592518C>G | CA415087249 | CCNQ | c.645G>C (p.Lys215Asn) c.193+2029G>C c.277+3486G>C c.466G>C c.*521G>C (n.*521G>C) c.615G>C (p.Lys205Asn) c.519G>C (p.Lys173Asn) n.2550G>C | |
| X | g.153592518C>T | CA519213383 | CCNQ | c.645G>A (p.Lys215=) c.193+2029G>A c.277+3486G>A c.466G>A c.*521G>A (n.*521G>A) c.615G>A (p.Lys205=) c.519G>A (p.Lys173=) n.2550G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153592519T>A | CA415087254 | CCNQ | c.644A>T (p.Lys215Met) c.193+2028A>T c.277+3485A>T c.465A>T c.*520A>T (n.*520A>T) c.614A>T (p.Lys205Met) c.518A>T (p.Lys173Met) n.2549A>T | |
| X | g.153592519T>C | CA415087253 | CCNQ | c.644A>G (p.Lys215Arg) c.193+2028A>G c.277+3485A>G c.465A>G c.*520A>G (n.*520A>G) c.614A>G (p.Lys205Arg) c.518A>G (p.Lys173Arg) n.2549A>G | gnomAD v4 |
| X | g.153592519T>G | CA415087252 | CCNQ | c.644A>C (p.Lys215Thr) c.193+2028A>C c.277+3485A>C c.465A>C c.*520A>C (n.*520A>C) c.614A>C (p.Lys205Thr) c.518A>C (p.Lys173Thr) n.2549A>C | |
| X | g.153592520T>A | CA415087256 | CCNQ | c.643A>T (p.Lys215Ter) c.193+2027A>T c.277+3484A>T c.464A>T c.*519A>T (n.*519A>T) c.613A>T (p.Lys205Ter) c.517A>T (p.Lys173Ter) n.2548A>T | |
| X | g.153592520T>C | CA415087259 | CCNQ | c.643A>G (p.Lys215Glu) c.193+2027A>G c.277+3484A>G c.464A>G c.*519A>G (n.*519A>G) c.613A>G (p.Lys205Glu) c.517A>G (p.Lys173Glu) n.2548A>G | gnomAD v4 |
| X | g.153592520T>G | CA415087261 | CCNQ | c.643A>C (p.Lys215Gln) c.193+2027A>C c.277+3484A>C c.464A>C c.*519A>C (n.*519A>C) c.613A>C (p.Lys205Gln) c.517A>C (p.Lys173Gln) n.2548A>C | |
| X | g.153592521C>A | CA415087265 | CCNQ | c.642G>T (p.Glu214Asp) c.193+2026G>T c.277+3483G>T c.463G>T c.*518G>T (n.*518G>T) c.612G>T (p.Glu204Asp) c.516G>T (p.Glu172Asp) n.2547G>T | |
| X | g.153592521C>G | CA415087268 | CCNQ | c.642G>C (p.Glu214Asp) c.193+2026G>C c.277+3483G>C c.463G>C c.*518G>C (n.*518G>C) c.612G>C (p.Glu204Asp) c.516G>C (p.Glu172Asp) n.2547G>C | |
| X | g.153592521C>T | CA519213400 | CCNQ | c.642G>A (p.Glu214=) c.193+2026G>A c.277+3483G>A c.463G>A c.*518G>A (n.*518G>A) c.612G>A (p.Glu204=) c.516G>A (p.Glu172=) n.2547G>A | gnomAD v4 |
| X | g.153592522T>A | CA415087272 | CCNQ | c.641A>T (p.Glu214Val) c.193+2025A>T c.277+3482A>T c.462A>T c.*517A>T (n.*517A>T) c.611A>T (p.Glu204Val) c.515A>T (p.Glu172Val) n.2546A>T | |
| X | g.153592522T>C | CA415087274 | CCNQ | c.641A>G (p.Glu214Gly) c.193+2025A>G c.277+3482A>G c.462A>G c.*517A>G (n.*517A>G) c.611A>G (p.Glu204Gly) c.515A>G (p.Glu172Gly) n.2546A>G | |
| X | g.153592522T>G | CA415087277 | CCNQ | c.641A>C (p.Glu214Ala) c.193+2025A>C c.277+3482A>C c.462A>C c.*517A>C (n.*517A>C) c.611A>C (p.Glu204Ala) c.515A>C (p.Glu172Ala) n.2546A>C | |
| X | g.153592523C>A | CA415087280 | CCNQ | c.640G>T (p.Glu214Ter) c.193+2024G>T c.277+3481G>T c.461G>T c.*516G>T (n.*516G>T) c.610G>T (p.Glu204Ter) c.514G>T (p.Glu172Ter) n.2545G>T | |
| X | g.153592523C>G | CA415087283 | CCNQ | c.640G>C (p.Glu214Gln) c.193+2024G>C c.277+3481G>C c.461G>C c.*516G>C (n.*516G>C) c.610G>C (p.Glu204Gln) c.514G>C (p.Glu172Gln) n.2545G>C | |
| X | g.153592523C>T | CA415087284 | CCNQ | c.640G>A (p.Glu214Lys) c.193+2024G>A c.277+3481G>A c.461G>A c.*516G>A (n.*516G>A) c.610G>A (p.Glu204Lys) c.514G>A (p.Glu172Lys) n.2545G>A | |
| X | g.153592524A= | CA2466399720 | CCNQ | c.639T= (p.Ala213=) c.193+2023T= c.277+3480T= c.460T= c.*515T= (n.*515T=) c.609T= (p.Ala203=) c.513T= (p.Ala171=) n.2544T= | |
| X | g.153592524A>C | CA519213413 | CCNQ | c.639T>G (p.Ala213=) c.193+2023T>G c.277+3480T>G c.460T>G c.*515T>G (n.*515T>G) c.609T>G (p.Ala203=) c.513T>G (p.Ala171=) n.2544T>G | |
| X | g.153592524A>G | CA10548375 | CCNQ | c.639T>C (p.Ala213=) c.193+2023T>C c.277+3480T>C c.460T>C c.*515T>C (n.*515T>C) c.609T>C (p.Ala203=) c.513T>C (p.Ala171=) n.2544T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153592524A>T | CA519213414 | CCNQ | c.639T>A (p.Ala213=) c.193+2023T>A c.277+3480T>A c.460T>A c.*515T>A (n.*515T>A) c.609T>A (p.Ala203=) c.513T>A (p.Ala171=) n.2544T>A | |
| X | g.153592525G>A | CA415087291 | CCNQ | c.638C>T (p.Ala213Val) c.193+2022C>T c.277+3479C>T c.459C>T c.*514C>T (n.*514C>T) c.608C>T (p.Ala203Val) c.512C>T (p.Ala171Val) n.2543C>T | |
| X | g.153592525G>C | CA415087293 | CCNQ | c.638C>G (p.Ala213Gly) c.193+2022C>G c.277+3479C>G c.459C>G c.*514C>G (n.*514C>G) c.608C>G (p.Ala203Gly) c.512C>G (p.Ala171Gly) n.2543C>G | gnomAD v4 |
| X | g.153592525G>T | CA415087296 | CCNQ | c.638C>A (p.Ala213Asp) c.193+2022C>A c.277+3479C>A c.459C>A c.*514C>A (n.*514C>A) c.608C>A (p.Ala203Asp) c.512C>A (p.Ala171Asp) n.2543C>A | |
| X | g.153592526C>A | CA415087300 | CCNQ | c.637G>T (p.Ala213Ser) c.193+2021G>T c.277+3478G>T c.458G>T c.*513G>T (n.*513G>T) c.607G>T (p.Ala203Ser) c.511G>T (p.Ala171Ser) n.2542G>T | |
| X | g.153592526C>G | CA415087301 | CCNQ | c.637G>C (p.Ala213Pro) c.193+2021G>C c.277+3478G>C c.458G>C c.*513G>C (n.*513G>C) c.607G>C (p.Ala203Pro) c.511G>C (p.Ala171Pro) n.2542G>C | |
| X | g.153592526C>T | CA415087303 | CCNQ | c.637G>A (p.Ala213Thr) c.193+2021G>A c.277+3478G>A c.458G>A c.*513G>A (n.*513G>A) c.607G>A (p.Ala203Thr) c.511G>A (p.Ala171Thr) n.2542G>A | |
| X | g.153592527C>A | CA415087306 | CCNQ | c.636G>T (p.Glu212Asp) c.193+2020G>T c.277+3477G>T c.457G>T c.*512G>T (n.*512G>T) c.606G>T (p.Glu202Asp) c.510G>T (p.Glu170Asp) n.2541G>T | |
| X | g.153592527C>G | CA415087308 | CCNQ | c.636G>C (p.Glu212Asp) c.193+2020G>C c.277+3477G>C c.457G>C c.*512G>C (n.*512G>C) c.606G>C (p.Glu202Asp) c.510G>C (p.Glu170Asp) n.2541G>C | |
| X | g.153592527C>T | CA519213425 | CCNQ | c.636G>A (p.Glu212=) c.193+2020G>A c.277+3477G>A c.457G>A c.*512G>A (n.*512G>A) c.606G>A (p.Glu202=) c.510G>A (p.Glu170=) n.2541G>A | gnomAD v4 |
| X | g.153592528T>A | CA415087311 | CCNQ | c.635A>T (p.Glu212Val) c.193+2019A>T c.277+3476A>T c.456A>T c.*511A>T (n.*511A>T) c.605A>T (p.Glu202Val) c.509A>T (p.Glu170Val) n.2540A>T | |
| X | g.153592528T>C | CA415087314 | CCNQ | c.635A>G (p.Glu212Gly) c.193+2019A>G c.277+3476A>G c.456A>G c.*511A>G (n.*511A>G) c.605A>G (p.Glu202Gly) c.509A>G (p.Glu170Gly) n.2540A>G | |
| X | g.153592528T>G | CA415087316 | CCNQ | c.635A>C (p.Glu212Ala) c.193+2019A>C c.277+3476A>C c.456A>C c.*511A>C (n.*511A>C) c.605A>C (p.Glu202Ala) c.509A>C (p.Glu170Ala) n.2540A>C | |
| X | g.153592529C>A | CA415087321 | CCNQ | c.634G>T (p.Glu212Ter) c.193+2018G>T c.277+3475G>T c.455G>T c.*510G>T (n.*510G>T) c.604G>T (p.Glu202Ter) c.508G>T (p.Glu170Ter) n.2539G>T | COSMIC |
| X | g.153592529C= | CA2466399721 | CCNQ | c.634G= (p.Glu212=) c.193+2018G= c.277+3475G= c.455G= c.*510G= (n.*510G=) c.604G= (p.Glu202=) c.508G= (p.Glu170=) n.2539G= | |
| X | g.153592529C>G | CA415087323 | CCNQ | c.634G>C (p.Glu212Gln) c.193+2018G>C c.277+3475G>C c.455G>C c.*510G>C (n.*510G>C) c.604G>C (p.Glu202Gln) c.508G>C (p.Glu170Gln) n.2539G>C | dbSNP gnomAD v4 |
| X | g.153592529C>T | CA337225224 | CCNQ | c.634G>A (p.Glu212Lys) c.193+2018G>A c.277+3475G>A c.455G>A c.*510G>A (n.*510G>A) c.604G>A (p.Glu202Lys) c.508G>A (p.Glu170Lys) n.2539G>A | dbSNP gnomAD v4 |
| X | g.153592530G>A | CA10548376 | CCNQ | c.633C>T (p.Val211=) c.193+2017C>T c.277+3474C>T c.454C>T c.*509C>T (n.*509C>T) c.603C>T (p.Val201=) c.507C>T (p.Val169=) n.2538C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153592530G>C | CA519213440 | CCNQ | c.633C>G (p.Val211=) c.193+2017C>G c.277+3474C>G c.454C>G c.*509C>G (n.*509C>G) c.603C>G (p.Val201=) c.507C>G (p.Val169=) n.2538C>G | |
| X | g.153592530G= | CA2466399722 | CCNQ | c.633C= (p.Val211=) c.193+2017C= c.277+3474C= c.454C= c.*509C= (n.*509C=) c.603C= (p.Val201=) c.507C= (p.Val169=) n.2538C= | |
| X | g.153592530G>T | CA519213442 | CCNQ | c.633C>A (p.Val211=) c.193+2017C>A c.277+3474C>A c.454C>A c.*509C>A (n.*509C>A) c.603C>A (p.Val201=) c.507C>A (p.Val169=) n.2538C>A | COSMIC |
| X | g.153592530_153592531insGAGA | CA873269545 | CCNQ | c.632_633insTCTC (p.Glu212LeufsTer4) c.193+2016_193+2017insTCTC c.277+3473_277+3474insTCTC c.453_454insTCTC c.*508_*509insTCTC (n.*508_*509insTCTC) c.602_603insTCTC (p.Glu202LeufsTer4) c.506_507insTCTC (p.Glu170LeufsTer4) n.2537_2538insTCTC | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153592531A>C | CA415087328 | CCNQ | c.632T>G (p.Val211Gly) c.193+2016T>G c.277+3473T>G c.453T>G c.*508T>G (n.*508T>G) c.602T>G (p.Val201Gly) c.506T>G (p.Val169Gly) n.2537T>G | |
| X | g.153592531A>G | CA415087331 | CCNQ | c.632T>C (p.Val211Ala) c.193+2016T>C c.277+3473T>C c.453T>C c.*508T>C (n.*508T>C) c.602T>C (p.Val201Ala) c.506T>C (p.Val169Ala) n.2537T>C | |
| X | g.153592531A>T | CA415087334 | CCNQ | c.632T>A (p.Val211Asp) c.193+2016T>A c.277+3473T>A c.453T>A c.*508T>A (n.*508T>A) c.602T>A (p.Val201Asp) c.506T>A (p.Val169Asp) n.2537T>A | |
| X | g.153592531_153592535delinsACCTC | CA2466399723 | CCNQ | c.628_632delinsGAGGT (p.Glu210=) c.193+2012_193+2016delinsGAGGT c.277+3469_277+3473delinsGAGGT c.449_453delinsGAGGT c.*504_*508delinsGAGGT (n.*504_*508delinsGAGGT) c.598_602delinsGAGGT (p.Glu200=) c.502_506delinsGAGGT (p.Glu168=) n.2533_2537delinsGAGGT | |
| X | g.153592532C>A | CA415087336 | CCNQ | c.631G>T (p.Val211Phe) c.193+2015G>T c.277+3472G>T c.452G>T c.*507G>T (n.*507G>T) c.601G>T (p.Val201Phe) c.505G>T (p.Val169Phe) n.2536G>T | |
| X | g.153592532C>G | CA415087342 | CCNQ | c.631G>C (p.Val211Leu) c.193+2015G>C c.277+3472G>C c.452G>C c.*507G>C (n.*507G>C) c.601G>C (p.Val201Leu) c.505G>C (p.Val169Leu) n.2536G>C | |
| X | g.153592532C>T | CA415087343 | CCNQ | c.631G>A (p.Val211Ile) c.193+2015G>A c.277+3472G>A c.452G>A c.*507G>A (n.*507G>A) c.601G>A (p.Val201Ile) c.505G>A (p.Val169Ile) n.2536G>A | gnomAD v4 |
| X | g.153592532_153592535del | CA873269551 | CCNQ | c.628_631del (p.Glu210SerfsTer?) c.193+2012_193+2015del c.277+3469_277+3472del c.449_452del c.*504_*507del (n.*504_*507del) c.598_601del (p.Glu200SerfsTer?) c.502_505del (p.Glu168SerfsTer?) n.2533_2536del | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153592533C>A | CA415087346 | CCNQ | c.630G>T (p.Glu210Asp) c.193+2014G>T c.277+3471G>T c.451G>T c.*506G>T (n.*506G>T) c.600G>T (p.Glu200Asp) c.504G>T (p.Glu168Asp) n.2535G>T | |
| X | g.153592533C= | CA2466399724 | CCNQ | c.630G= (p.Glu210=) c.193+2014G= c.277+3471G= c.451G= c.*506G= (n.*506G=) c.600G= (p.Glu200=) c.504G= (p.Glu168=) n.2535G= | |
| X | g.153592533C>G | CA415087348 | CCNQ | c.630G>C (p.Glu210Asp) c.193+2014G>C c.277+3471G>C c.451G>C c.*506G>C (n.*506G>C) c.600G>C (p.Glu200Asp) c.504G>C (p.Glu168Asp) n.2535G>C | |
| X | g.153592533C>T | CA519213450 | CCNQ | c.630G>A (p.Glu210=) c.193+2014G>A c.277+3471G>A c.451G>A c.*506G>A (n.*506G>A) c.600G>A (p.Glu200=) c.504G>A (p.Glu168=) n.2535G>A | dbSNP gnomAD v4 |
| X | g.153592534T>A | CA415087352 | CCNQ | c.629A>T (p.Glu210Val) c.193+2013A>T c.277+3470A>T c.450A>T c.*505A>T (n.*505A>T) c.599A>T (p.Glu200Val) c.503A>T (p.Glu168Val) n.2534A>T | |
| X | g.153592534T>C | CA415087354 | CCNQ | c.629A>G (p.Glu210Gly) c.193+2013A>G c.277+3470A>G c.450A>G c.*505A>G (n.*505A>G) c.599A>G (p.Glu200Gly) c.503A>G (p.Glu168Gly) n.2534A>G | |
| X | g.153592534T>G | CA415087357 | CCNQ | c.629A>C (p.Glu210Ala) c.193+2013A>C c.277+3470A>C c.450A>C c.*505A>C (n.*505A>C) c.599A>C (p.Glu200Ala) c.503A>C (p.Glu168Ala) n.2534A>C | |
| X | g.153592535C>A | CA415087364 | CCNQ | c.628G>T (p.Glu210Ter) c.193+2012G>T c.277+3469G>T c.449G>T c.*504G>T (n.*504G>T) c.598G>T (p.Glu200Ter) c.502G>T (p.Glu168Ter) n.2533G>T | |
| X | g.153592535C= | CA2466399725 | CCNQ | c.628G= (p.Glu210=) c.193+2012G= c.277+3469G= c.449G= c.*504G= (n.*504G=) c.598G= (p.Glu200=) c.502G= (p.Glu168=) n.2533G= | |
| X | g.153592535C>G | CA415087362 | CCNQ | c.628G>C (p.Glu210Gln) c.193+2012G>C c.277+3469G>C c.449G>C c.*504G>C (n.*504G>C) c.598G>C (p.Glu200Gln) c.502G>C (p.Glu168Gln) n.2533G>C | |
| X | g.153592535C>T | CA10548377 | CCNQ | c.628G>A (p.Glu210Lys) c.193+2012G>A c.277+3469G>A c.449G>A c.*504G>A (n.*504G>A) c.598G>A (p.Glu200Lys) c.502G>A (p.Glu168Lys) n.2533G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153592536G>A | CA10548378 | CCNQ | c.627C>T (p.Ala209=) c.193+2011C>T c.277+3468C>T c.448C>T c.*503C>T (n.*503C>T) c.597C>T (p.Ala199=) c.501C>T (p.Ala167=) n.2532C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.153592536G>C | CA519213469 | CCNQ | c.627C>G (p.Ala209=) c.193+2011C>G c.277+3468C>G c.448C>G c.*503C>G (n.*503C>G) c.597C>G (p.Ala199=) c.501C>G (p.Ala167=) n.2532C>G | |
| X | g.153592536G= | CA2466399726 | CCNQ | c.627C= (p.Ala209=) c.193+2011C= c.277+3468C= c.448C= c.*503C= (n.*503C=) c.597C= (p.Ala199=) c.501C= (p.Ala167=) n.2532C= | |
| X | g.153592536G>T | CA519213471 | CCNQ | c.627C>A (p.Ala209=) c.193+2011C>A c.277+3468C>A c.448C>A c.*503C>A (n.*503C>A) c.597C>A (p.Ala199=) c.501C>A (p.Ala167=) n.2532C>A | dbSNP |
| X | g.153592537G>A | CA415087367 | CCNQ | c.626C>T (p.Ala209Val) c.193+2010C>T c.277+3467C>T c.447C>T c.*502C>T (n.*502C>T) c.596C>T (p.Ala199Val) c.500C>T (p.Ala167Val) n.2531C>T | |
| X | g.153592537G>C | CA415087370 | CCNQ | c.626C>G (p.Ala209Gly) c.193+2010C>G c.277+3467C>G c.447C>G c.*502C>G (n.*502C>G) c.596C>G (p.Ala199Gly) c.500C>G (p.Ala167Gly) n.2531C>G | |
| X | g.153592537G>T | CA415087372 | CCNQ | c.626C>A (p.Ala209Asp) c.193+2010C>A c.277+3467C>A c.447C>A c.*502C>A (n.*502C>A) c.596C>A (p.Ala199Asp) c.500C>A (p.Ala167Asp) n.2531C>A | |
| X | g.153592538C>A | CA415087375 | CCNQ | c.625G>T (p.Ala209Ser) c.193+2009G>T c.277+3466G>T c.446G>T c.*501G>T (n.*501G>T) c.595G>T (p.Ala199Ser) c.499G>T (p.Ala167Ser) n.2530G>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153592538C= | CA2466399727 | CCNQ | c.625G= (p.Ala209=) c.193+2009G= c.277+3466G= c.446G= c.*501G= (n.*501G=) c.595G= (p.Ala199=) c.499G= (p.Ala167=) n.2530G= | |
| X | g.153592538C>G | CA415087377 | CCNQ | c.625G>C (p.Ala209Pro) c.193+2009G>C c.277+3466G>C c.446G>C c.*501G>C (n.*501G>C) c.595G>C (p.Ala199Pro) c.499G>C (p.Ala167Pro) n.2530G>C | |
| X | g.153592538C>T | CA415087378 | CCNQ | c.625G>A (p.Ala209Thr) c.193+2009G>A c.277+3466G>A c.446G>A c.*501G>A (n.*501G>A) c.595G>A (p.Ala199Thr) c.499G>A (p.Ala167Thr) n.2530G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153592539G>A | CA10548379 | CCNQ | c.624C>T (p.Pro208=) c.193+2008C>T c.277+3465C>T c.445C>T c.*500C>T (n.*500C>T) c.594C>T (p.Pro198=) c.498C>T (p.Pro166=) n.2529C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153592539G>C | CA519213493 | CCNQ | c.624C>G (p.Pro208=) c.193+2008C>G c.277+3465C>G c.445C>G c.*500C>G (n.*500C>G) c.594C>G (p.Pro198=) c.498C>G (p.Pro166=) n.2529C>G | |
| X | g.153592539G= | CA2466399728 | CCNQ | c.624C= (p.Pro208=) c.193+2008C= c.277+3465C= c.445C= c.*500C= (n.*500C=) c.594C= (p.Pro198=) c.498C= (p.Pro166=) n.2529C= | |
| X | g.153592539G>T | CA519213495 | CCNQ | c.624C>A (p.Pro208=) c.193+2008C>A c.277+3465C>A c.445C>A c.*500C>A (n.*500C>A) c.594C>A (p.Pro198=) c.498C>A (p.Pro166=) n.2529C>A | |
| X | g.153592540G>A | CA415087386 | CCNQ | c.623C>T (p.Pro208Leu) c.193+2007C>T c.277+3464C>T c.444C>T c.*499C>T (n.*499C>T) c.593C>T (p.Pro198Leu) c.497C>T (p.Pro166Leu) n.2528C>T | |
| X | g.153592540G>C | CA415087388 | CCNQ | c.623C>G (p.Pro208Arg) c.193+2007C>G c.277+3464C>G c.444C>G c.*499C>G (n.*499C>G) c.593C>G (p.Pro198Arg) c.497C>G (p.Pro166Arg) n.2528C>G | |
| X | g.153592540G>T | CA415087390 | CCNQ | c.623C>A (p.Pro208His) c.193+2007C>A c.277+3464C>A c.444C>A c.*499C>A (n.*499C>A) c.593C>A (p.Pro198His) c.497C>A (p.Pro166His) n.2528C>A | |
| X | g.153592541G>A | CA415087399 | CCNQ | c.622C>T (p.Pro208Ser) c.193+2006C>T c.277+3463C>T c.443C>T c.*498C>T (n.*498C>T) c.592C>T (p.Pro198Ser) c.496C>T (p.Pro166Ser) n.2527C>T | |
| X | g.153592541G>C | CA415087397 | CCNQ | c.622C>G (p.Pro208Ala) c.193+2006C>G c.277+3463C>G c.443C>G c.*498C>G (n.*498C>G) c.592C>G (p.Pro198Ala) c.496C>G (p.Pro166Ala) n.2527C>G | |
| X | g.153592541G>T | CA415087392 | CCNQ | c.622C>A (p.Pro208Thr) c.193+2006C>A c.277+3463C>A c.443C>A c.*498C>A (n.*498C>A) c.592C>A (p.Pro198Thr) c.496C>A (p.Pro166Thr) n.2527C>A | |
| X | g.153592542C>A | CA519213509 | CCNQ | c.621G>T (p.Val207=) c.193+2005G>T c.277+3462G>T c.442G>T c.*497G>T (n.*497G>T) c.591G>T (p.Val197=) c.495G>T (p.Val165=) n.2526G>T | |
| X | g.153592542C= | CA2466399729 | CCNQ | c.621G= (p.Val207=) c.193+2005G= c.277+3462G= c.442G= c.*497G= (n.*497G=) c.591G= (p.Val197=) c.495G= (p.Val165=) n.2526G= | |
| X | g.153592542C>G | CA519213512 | CCNQ | c.621G>C (p.Val207=) c.193+2005G>C c.277+3462G>C c.442G>C c.*497G>C (n.*497G>C) c.591G>C (p.Val197=) c.495G>C (p.Val165=) n.2526G>C | gnomAD v4 |
| X | g.153592542C>T | CA519213513 | CCNQ | c.621G>A (p.Val207=) c.193+2005G>A c.277+3462G>A c.442G>A c.*497G>A (n.*497G>A) c.591G>A (p.Val197=) c.495G>A (p.Val165=) n.2526G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153592543A>C | CA415087402 | CCNQ | c.620T>G (p.Val207Gly) c.193+2004T>G c.277+3461T>G c.441T>G c.*496T>G (n.*496T>G) c.590T>G (p.Val197Gly) c.494T>G (p.Val165Gly) n.2525T>G | |
| X | g.153592543A>G | CA415087405 | CCNQ | c.620T>C (p.Val207Ala) c.193+2004T>C c.277+3461T>C c.441T>C c.*496T>C (n.*496T>C) c.590T>C (p.Val197Ala) c.494T>C (p.Val165Ala) n.2525T>C | |
| X | g.153592543A>T | CA415087406 | CCNQ | c.620T>A (p.Val207Glu) c.193+2004T>A c.277+3461T>A c.441T>A c.*496T>A (n.*496T>A) c.590T>A (p.Val197Glu) c.494T>A (p.Val165Glu) n.2525T>A | |
| X | g.153592544C>A | CA415087407 | CCNQ | c.619G>T (p.Val207Leu) c.193+2003G>T c.277+3460G>T c.440G>T c.*495G>T (n.*495G>T) c.589G>T (p.Val197Leu) c.493G>T (p.Val165Leu) n.2524G>T | |
| X | g.153592544C>G | CA415087408 | CCNQ | c.619G>C (p.Val207Leu) c.193+2003G>C c.277+3460G>C c.440G>C c.*495G>C (n.*495G>C) c.589G>C (p.Val197Leu) c.493G>C (p.Val165Leu) n.2524G>C | |
| X | g.153592544C>T | CA415087409 | CCNQ | c.619G>A (p.Val207Met) c.193+2003G>A c.277+3460G>A c.440G>A c.*495G>A (n.*495G>A) c.589G>A (p.Val197Met) c.493G>A (p.Val165Met) n.2524G>A | |
| X | g.153592545C>A | CA415087411 | CCNQ | c.618G>T (p.Glu206Asp) c.193+2002G>T c.277+3459G>T c.439G>T c.*494G>T (n.*494G>T) c.588G>T (p.Glu196Asp) c.492G>T (p.Glu164Asp) n.2523G>T | |
| X | g.153592545C>G | CA415087413 | CCNQ | c.618G>C (p.Glu206Asp) c.193+2002G>C c.277+3459G>C c.439G>C c.*494G>C (n.*494G>C) c.588G>C (p.Glu196Asp) c.492G>C (p.Glu164Asp) n.2523G>C | |
| X | g.153592545C>T | CA519213528 | CCNQ | c.618G>A (p.Glu206=) c.193+2002G>A c.277+3459G>A c.439G>A c.*494G>A (n.*494G>A) c.588G>A (p.Glu196=) c.492G>A (p.Glu164=) n.2523G>A | |
| X | g.153592546T>A | CA415087415 | CCNQ | c.617A>T (p.Glu206Val) c.193+2001A>T c.277+3458A>T c.438A>T c.*493A>T (n.*493A>T) c.587A>T (p.Glu196Val) c.491A>T (p.Glu164Val) n.2522A>T | |
| X | g.153592546T>C | CA415087427 | CCNQ | c.617A>G (p.Glu206Gly) c.193+2001A>G c.277+3458A>G c.438A>G c.*493A>G (n.*493A>G) c.587A>G (p.Glu196Gly) c.491A>G (p.Glu164Gly) n.2522A>G | |
| X | g.153592546T>G | CA415087430 | CCNQ | c.617A>C (p.Glu206Ala) c.193+2001A>C c.277+3458A>C c.438A>C c.*493A>C (n.*493A>C) c.587A>C (p.Glu196Ala) c.491A>C (p.Glu164Ala) n.2522A>C | |
| 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= |