| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.113412737G>A | CA203433 | DRD2 | c.957C>T (p.Pro319=) c.870C>T (p.Pro290=) c.963C>T (p.Pro321=) c.954C>T (p.Pro318=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113412737G>C | CA477043180 | DRD2 | c.957C>G (p.Pro319=) c.870C>G (p.Pro290=) c.963C>G (p.Pro321=) c.954C>G (p.Pro318=) | |
| 11 | g.113412737G= | CA2001167990 | DRD2 | c.957C= (p.Pro319=) c.870C= (p.Pro290=) c.963C= (p.Pro321=) c.954C= (p.Pro318=) | |
| 11 | g.113412737G>T | CA477043179 | DRD2 | c.957C>A (p.Pro319=) c.870C>A (p.Pro290=) c.963C>A (p.Pro321=) c.954C>A (p.Pro318=) | |
| 11 | g.113412738G>A | CA382650185 | DRD2 | c.956C>T (p.Pro319Leu) c.869C>T (p.Pro290Leu) c.962C>T (p.Pro321Leu) c.953C>T (p.Pro318Leu) | |
| 11 | g.113412738G>C | CA382650186 | DRD2 | c.956C>G (p.Pro319Arg) c.869C>G (p.Pro290Arg) c.962C>G (p.Pro321Arg) c.953C>G (p.Pro318Arg) | |
| 11 | g.113412738G>T | CA382650188 | DRD2 | c.956C>A (p.Pro319His) c.869C>A (p.Pro290His) c.962C>A (p.Pro321His) c.953C>A (p.Pro318His) | |
| 11 | g.113412739G>A | CA382650190 | DRD2 | c.955C>T (p.Pro319Ser) c.868C>T (p.Pro290Ser) c.961C>T (p.Pro321Ser) c.952C>T (p.Pro318Ser) | |
| 11 | g.113412739G>C | CA382650192 | DRD2 | c.955C>G (p.Pro319Ala) c.868C>G (p.Pro290Ala) c.961C>G (p.Pro321Ala) c.952C>G (p.Pro318Ala) | |
| 11 | g.113412739G>T | CA382650193 | DRD2 | c.955C>A (p.Pro319Thr) c.868C>A (p.Pro290Thr) c.961C>A (p.Pro321Thr) c.952C>A (p.Pro318Thr) | |
| 11 | g.113412740A>C | CA477043182 | DRD2 | c.954T>G (p.Thr318=) c.867T>G (p.Thr289=) c.960T>G (p.Thr320=) c.951T>G (p.Thr317=) | |
| 11 | g.113412740A>G | CA477043184 | DRD2 | c.954T>C (p.Thr318=) c.867T>C (p.Thr289=) c.960T>C (p.Thr320=) c.951T>C (p.Thr317=) | COSMIC COSMIC |
| 11 | g.113412740A>T | CA477043183 | DRD2 | c.954T>A (p.Thr318=) c.867T>A (p.Thr289=) c.960T>A (p.Thr320=) c.951T>A (p.Thr317=) | |
| 11 | g.113412741G>A | CA6281218 | DRD2 | c.953C>T (p.Thr318Ile) c.866C>T (p.Thr289Ile) c.959C>T (p.Thr320Ile) c.950C>T (p.Thr317Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113412741G>C | CA382650195 | DRD2 | c.953C>G (p.Thr318Ser) c.866C>G (p.Thr289Ser) c.959C>G (p.Thr320Ser) c.950C>G (p.Thr317Ser) | gnomAD v4 |
| 11 | g.113412741G= | CA2001167991 | DRD2 | c.953C= (p.Thr318=) c.866C= (p.Thr289=) c.959C= (p.Thr320=) c.950C= (p.Thr317=) | |
| 11 | g.113412741G>T | CA382650196 | DRD2 | c.953C>A (p.Thr318Asn) c.866C>A (p.Thr289Asn) c.959C>A (p.Thr320Asn) c.950C>A (p.Thr317Asn) | |
| 11 | g.113412742T>A | CA382650200 | DRD2 | c.952A>T (p.Thr318Ser) c.865A>T (p.Thr289Ser) c.958A>T (p.Thr320Ser) c.949A>T (p.Thr317Ser) | |
| 11 | g.113412742T>C | CA382650202 | DRD2 | c.952A>G (p.Thr318Ala) c.865A>G (p.Thr289Ala) c.958A>G (p.Thr320Ala) c.949A>G (p.Thr317Ala) | |
| 11 | g.113412742T>G | CA382650199 | DRD2 | c.952A>C (p.Thr318Pro) c.865A>C (p.Thr289Pro) c.958A>C (p.Thr320Pro) c.949A>C (p.Thr317Pro) | dbSNP gnomAD v4 |
| 11 | g.113412742T= | CA2001167992 | DRD2 | c.952A= (p.Thr318=) c.865A= (p.Thr289=) c.958A= (p.Thr320=) c.949A= (p.Thr317=) | |
| 11 | g.113412743G>A | CA6281219 | DRD2 | c.951C>T (p.Ser317=) c.864C>T (p.Ser288=) c.957C>T (p.Ser319=) c.948C>T (p.Ser316=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113412743G>C | CA382650205 | DRD2 | c.951C>G (p.Ser317Arg) c.864C>G (p.Ser288Arg) c.957C>G (p.Ser319Arg) c.948C>G (p.Ser316Arg) | |
| 11 | g.113412743G= | CA2001167993 | DRD2 | c.951C= (p.Ser317=) c.864C= (p.Ser288=) c.957C= (p.Ser319=) c.948C= (p.Ser316=) | |
| 11 | g.113412743G>T | CA382650206 | DRD2 | c.951C>A (p.Ser317Arg) c.864C>A (p.Ser288Arg) c.957C>A (p.Ser319Arg) c.948C>A (p.Ser316Arg) | |
| 11 | g.113412744C>A | CA382650209 | DRD2 | c.950G>T (p.Ser317Ile) c.863G>T (p.Ser288Ile) c.956G>T (p.Ser319Ile) c.947G>T (p.Ser316Ile) | |
| 11 | g.113412744C>G | CA382650211 | DRD2 | c.950G>C (p.Ser317Thr) c.863G>C (p.Ser288Thr) c.956G>C (p.Ser319Thr) c.947G>C (p.Ser316Thr) | |
| 11 | g.113412744C>T | CA382650212 | DRD2 | c.950G>A (p.Ser317Asn) c.863G>A (p.Ser288Asn) c.956G>A (p.Ser319Asn) c.947G>A (p.Ser316Asn) | |
| 11 | g.113412745T>A | CA382650214 | DRD2 | c.949A>T (p.Ser317Cys) c.862A>T (p.Ser288Cys) c.955A>T (p.Ser319Cys) c.946A>T (p.Ser316Cys) | |
| 11 | g.113412745T>C | CA382650216 | DRD2 | c.949A>G (p.Ser317Gly) c.862A>G (p.Ser288Gly) c.955A>G (p.Ser319Gly) c.946A>G (p.Ser316Gly) | gnomAD v4 |
| 11 | g.113412745T>G | CA382650218 | DRD2 | c.949A>C (p.Ser317Arg) c.862A>C (p.Ser288Arg) c.955A>C (p.Ser319Arg) c.946A>C (p.Ser316Arg) | |
| 11 | g.113412746G>A | CA477043188 | DRD2 | c.948C>T (p.His316=) c.861C>T (p.His287=) c.954C>T (p.His318=) c.945C>T (p.His315=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.113412746G>C | CA382650219 | DRD2 | c.948C>G (p.His316Gln) c.861C>G (p.His287Gln) c.954C>G (p.His318Gln) c.945C>G (p.His315Gln) | |
| 11 | g.113412746G= | CA2001167994 | DRD2 | c.948C= (p.His316=) c.861C= (p.His287=) c.954C= (p.His318=) c.945C= (p.His315=) | |
| 11 | g.113412746G>T | CA382650221 | DRD2 | c.948C>A (p.His316Gln) c.861C>A (p.His287Gln) c.954C>A (p.His318Gln) c.945C>A (p.His315Gln) | COSMIC COSMIC |
| 11 | g.113412747T>A | CA382650226 | DRD2 | c.947A>T (p.His316Leu) c.860A>T (p.His287Leu) c.953A>T (p.His318Leu) c.944A>T (p.His315Leu) | |
| 11 | g.113412747T>C | CA382650224 | DRD2 | c.947A>G (p.His316Arg) c.860A>G (p.His287Arg) c.953A>G (p.His318Arg) c.944A>G (p.His315Arg) | |
| 11 | g.113412747T>G | CA6281220 | DRD2 | c.947A>C (p.His316Pro) c.860A>C (p.His287Pro) c.953A>C (p.His318Pro) c.944A>C (p.His315Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.113412747T= | CA2001167996 | DRD2 | c.947A= (p.His316=) c.860A= (p.His287=) c.953A= (p.His318=) c.944A= (p.His315=) | |
| 11 | g.113412747_113412750delinsTGGA | CA2001167995 | DRD2 | c.944_947delinsTCCA (p.Leu315=) c.857_860delinsTCCA (p.Leu286=) c.950_953delinsTCCA (p.Leu317=) c.941_944delinsTCCA (p.Leu314=) | |
| 11 | g.113412748G>A | CA382650228 | DRD2 | c.946C>T (p.His316Tyr) c.859C>T (p.His287Tyr) c.952C>T (p.His318Tyr) c.943C>T (p.His315Tyr) | |
| 11 | g.113412748G>C | CA382650229 | DRD2 | c.946C>G (p.His316Asp) c.859C>G (p.His287Asp) c.952C>G (p.His318Asp) c.943C>G (p.His315Asp) | |
| 11 | g.113412748G>T | CA382650230 | DRD2 | c.946C>A (p.His316Asn) c.859C>A (p.His287Asn) c.952C>A (p.His318Asn) c.943C>A (p.His315Asn) | |
| 11 | g.113412749_113412751del | CA6281221 | DRD2 | c.944_946del (p.Leu315del) c.857_859del (p.Leu286del) c.950_952del (p.Leu317del) c.941_943del (p.Leu314del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113412749G>A | CA477043191 | DRD2 | c.945C>T (p.Leu315=) c.858C>T (p.Leu286=) c.951C>T (p.Leu317=) c.942C>T (p.Leu314=) | COSMIC COSMIC |
| 11 | g.113412749G>C | CA477043193 | DRD2 | c.945C>G (p.Leu315=) c.858C>G (p.Leu286=) c.951C>G (p.Leu317=) c.942C>G (p.Leu314=) | |
| 11 | g.113412749G>T | CA477043195 | DRD2 | c.945C>A (p.Leu315=) c.858C>A (p.Leu286=) c.951C>A (p.Leu317=) c.942C>A (p.Leu314=) | gnomAD v3 gnomAD v4 |
| 11 | g.113412750A>C | CA382650233 | DRD2 | c.944T>G (p.Leu315Arg) c.857T>G (p.Leu286Arg) c.950T>G (p.Leu317Arg) c.941T>G (p.Leu314Arg) | |
| 11 | g.113412750A>G | CA382650235 | DRD2 | c.944T>C (p.Leu315Pro) c.857T>C (p.Leu286Pro) c.950T>C (p.Leu317Pro) c.941T>C (p.Leu314Pro) | |
| 11 | g.113412750A>T | CA382650238 | DRD2 | c.944T>A (p.Leu315His) c.857T>A (p.Leu286His) c.950T>A (p.Leu317His) c.941T>A (p.Leu314His) |