| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.5997074_6004576delinsCG | CA331742 | PMS2 | c.164-518_803+252delinsCG n.246-518_885+252delinsCG c.158-518_797+252delinsCG c.209-518_848+252delinsCG c.-52-518_485+252delinsCG c.-242-518_398+252delinsCG c.-721-518_-131+252delinsCG c.-242-518_230+252delinsCG c.-321-518_494+252delinsCG n.251-518_890+252delinsCG c.-621-518_-31+252delinsCG n.164-518_803+252delinsCG n.62+1417_62+8919delinsCG | ClinVar |
| 7 | g.6002480del | CA16618531 | PMS2 | c.510del (p.His170GlnfsTer?) n.592del c.504del (p.His168GlnfsTer?) c.555del (p.His185GlnfsTer?) c.192del (p.His64GlnfsTer?) c.105del (p.His35GlnfsTer?) c.-375del (p.=) c.201del (p.His67GlnfsTer?) n.597del c.-275del (p.=) n.589del n.510del (p.His170GlnfsTer?) n.510del n.62+3513del | ClinVar dbSNP |
| 7 | g.6002480A>C | CA366744211 | PMS2 | c.510T>G (p.His170Gln) n.592T>G c.504T>G (p.His168Gln) c.555T>G (p.His185Gln) c.192T>G (p.His64Gln) c.105T>G (p.His35Gln) c.-375T>G (p.=) c.201T>G (p.His67Gln) n.597T>G c.-275T>G (p.=) n.589T>G n.510T>G (p.His170Gln) n.510T>G n.62+3513T>G | |
| 7 | g.6002480A>G | CA453647605 | PMS2 | c.510T>C (p.His170=) n.592T>C c.504T>C (p.His168=) c.555T>C (p.His185=) c.192T>C (p.His64=) c.105T>C (p.His35=) c.-375T>C (p.=) c.201T>C (p.His67=) n.597T>C c.-275T>C (p.=) n.589T>C n.510T>C (p.His170=) n.510T>C n.62+3513T>C | |
| 7 | g.6002480A>T | CA366744212 | PMS2 | c.510T>A (p.His170Gln) n.592T>A c.504T>A (p.His168Gln) c.555T>A (p.His185Gln) c.192T>A (p.His64Gln) c.105T>A (p.His35Gln) c.-375T>A (p.=) c.201T>A (p.His67Gln) n.597T>A c.-275T>A (p.=) n.589T>A n.510T>A (p.His170Gln) n.510T>A n.62+3513T>A | |
| 7 | g.6002481T>A | CA366744213 | PMS2 | c.509A>T (p.His170Leu) n.591A>T c.503A>T (p.His168Leu) c.554A>T (p.His185Leu) c.191A>T (p.His64Leu) c.104A>T (p.His35Leu) c.-376A>T (p.=) c.200A>T (p.His67Leu) n.596A>T c.-276A>T (p.=) n.588A>T n.509A>T (p.His170Leu) n.509A>T n.62+3512A>T | |
| 7 | g.6002481T>C | CA366744214 | PMS2 | c.509A>G (p.His170Arg) n.591A>G c.503A>G (p.His168Arg) c.554A>G (p.His185Arg) c.191A>G (p.His64Arg) c.104A>G (p.His35Arg) c.-376A>G (p.=) c.200A>G (p.His67Arg) n.596A>G c.-276A>G (p.=) n.588A>G n.509A>G (p.His170Arg) n.509A>G n.62+3512A>G | ClinVar |
| 7 | g.6002481T>G | CA366744215 | PMS2 | c.509A>C (p.His170Pro) n.591A>C c.503A>C (p.His168Pro) c.554A>C (p.His185Pro) c.191A>C (p.His64Pro) c.104A>C (p.His35Pro) c.-376A>C (p.=) c.200A>C (p.His67Pro) n.596A>C c.-276A>C (p.=) n.588A>C n.509A>C (p.His170Pro) n.509A>C n.62+3512A>C | |
| 7 | g.6002482G>A | CA366744216 | PMS2 | c.508C>T (p.His170Tyr) n.590C>T c.502C>T (p.His168Tyr) c.553C>T (p.His185Tyr) c.190C>T (p.His64Tyr) c.103C>T (p.His35Tyr) c.-377C>T (p.=) c.199C>T (p.His67Tyr) n.595C>T c.-277C>T (p.=) n.587C>T n.508C>T (p.His170Tyr) n.508C>T n.62+3511C>T | |
| 7 | g.6002482G>C | CA366744217 | PMS2 | c.508C>G (p.His170Asp) n.590C>G c.502C>G (p.His168Asp) c.553C>G (p.His185Asp) c.190C>G (p.His64Asp) c.103C>G (p.His35Asp) c.-377C>G (p.=) c.199C>G (p.His67Asp) n.595C>G c.-277C>G (p.=) n.587C>G n.508C>G (p.His170Asp) n.508C>G n.62+3511C>G | |
| 7 | g.6002482G>T | CA10577350 | PMS2 | c.508C>A (p.His170Asn) n.590C>A c.502C>A (p.His168Asn) c.553C>A (p.His185Asn) c.190C>A (p.His64Asn) c.103C>A (p.His35Asn) c.-377C>A (p.=) c.199C>A (p.His67Asn) n.595C>A c.-277C>A (p.=) n.587C>A n.508C>A (p.His170Asn) n.508C>A n.62+3511C>A | ClinVar dbSNP |
| 7 | g.6002483G>A | CA453647607 | PMS2 | c.507C>T (p.Arg169=) n.589C>T c.501C>T (p.Arg167=) c.552C>T (p.Arg184=) c.189C>T (p.Arg63=) c.102C>T (p.Arg34=) c.-378C>T (p.=) c.198C>T (p.Arg66=) n.594C>T c.-278C>T (p.=) n.586C>T n.507C>T (p.Arg169=) n.507C>T n.62+3510C>T | ClinVar |
| 7 | g.6002483G>C | CA453647608 | PMS2 | c.507C>G (p.Arg169=) n.589C>G c.501C>G (p.Arg167=) c.552C>G (p.Arg184=) c.189C>G (p.Arg63=) c.102C>G (p.Arg34=) c.-378C>G (p.=) c.198C>G (p.Arg66=) n.594C>G c.-278C>G (p.=) n.586C>G n.507C>G (p.Arg169=) n.507C>G n.62+3510C>G | |
| 7 | g.6002483G>T | CA453647609 | PMS2 | c.507C>A (p.Arg169=) n.589C>A c.501C>A (p.Arg167=) c.552C>A (p.Arg184=) c.189C>A (p.Arg63=) c.102C>A (p.Arg34=) c.-378C>A (p.=) c.198C>A (p.Arg66=) n.594C>A c.-278C>A (p.=) n.586C>A n.507C>A (p.Arg169=) n.507C>A n.62+3510C>A | |
| 7 | g.6002484C>A | CA366744218 | PMS2 | c.506G>T (p.Arg169Leu) n.588G>T c.500G>T (p.Arg167Leu) c.551G>T (p.Arg184Leu) c.188G>T (p.Arg63Leu) c.101G>T (p.Arg34Leu) c.-379G>T (p.=) c.197G>T (p.Arg66Leu) n.593G>T c.-279G>T (p.=) n.585G>T n.506G>T (p.Arg169Leu) n.506G>T n.62+3509G>T | |
| 7 | g.6002484C>G | CA366744219 | PMS2 | c.506G>C (p.Arg169Pro) n.588G>C c.500G>C (p.Arg167Pro) c.551G>C (p.Arg184Pro) c.188G>C (p.Arg63Pro) c.101G>C (p.Arg34Pro) c.-379G>C (p.=) c.197G>C (p.Arg66Pro) n.593G>C c.-279G>C (p.=) n.585G>C n.506G>C (p.Arg169Pro) n.506G>C n.62+3509G>C | |
| 7 | g.6002484C>T | CA012229 | PMS2 | c.506G>A (p.Arg169His) n.588G>A c.500G>A (p.Arg167His) c.551G>A (p.Arg184His) c.188G>A (p.Arg63His) c.101G>A (p.Arg34His) c.-379G>A (p.=) c.197G>A (p.Arg66His) n.593G>A c.-279G>A (p.=) n.585G>A n.506G>A (p.Arg169His) n.506G>A n.62+3509G>A | ClinVar dbSNP gnomAD |
| 7 | g.6002485G>A | CA012217 | PMS2 | c.505C>T (p.Arg169Cys) n.587C>T c.499C>T (p.Arg167Cys) c.550C>T (p.Arg184Cys) c.187C>T (p.Arg63Cys) c.100C>T (p.Arg34Cys) c.-380C>T (p.=) c.196C>T (p.Arg66Cys) n.592C>T c.-280C>T (p.=) n.584C>T n.505C>T (p.Arg169Cys) n.505C>T n.62+3508C>T | ClinVar dbSNP gnomAD |
| 7 | g.6002485G>C | CA366744220 | PMS2 | c.505C>G (p.Arg169Gly) n.587C>G c.499C>G (p.Arg167Gly) c.550C>G (p.Arg184Gly) c.187C>G (p.Arg63Gly) c.100C>G (p.Arg34Gly) c.-380C>G (p.=) c.196C>G (p.Arg66Gly) n.592C>G c.-280C>G (p.=) n.584C>G n.505C>G (p.Arg169Gly) n.505C>G n.62+3508C>G | |
| 7 | g.6002485G>T | CA366744221 | PMS2 | c.505C>A (p.Arg169Ser) n.587C>A c.499C>A (p.Arg167Ser) c.550C>A (p.Arg184Ser) c.187C>A (p.Arg63Ser) c.100C>A (p.Arg34Ser) c.-380C>A (p.=) c.196C>A (p.Arg66Ser) n.592C>A c.-280C>A (p.=) n.584C>A n.505C>A (p.Arg169Ser) n.505C>A n.62+3508C>A | |
| 7 | g.6002486C>A | CA453647611 | PMS2 | c.504G>T (p.Val168=) n.586G>T c.498G>T (p.Val166=) c.549G>T (p.Val183=) c.186G>T (p.Val62=) c.99G>T (p.Val33=) c.-381G>T (p.=) c.195G>T (p.Val65=) n.591G>T c.-281G>T (p.=) n.583G>T n.504G>T (p.Val168=) n.504G>T n.62+3507G>T | |
| 7 | g.6002486C>G | CA453647612 | PMS2 | c.504G>C (p.Val168=) n.586G>C c.498G>C (p.Val166=) c.549G>C (p.Val183=) c.186G>C (p.Val62=) c.99G>C (p.Val33=) c.-381G>C (p.=) c.195G>C (p.Val65=) n.591G>C c.-281G>C (p.=) n.583G>C n.504G>C (p.Val168=) n.504G>C n.62+3507G>C | |
| 7 | g.6002486C>T | CA10582526 | PMS2 | c.504G>A (p.Val168=) n.586G>A c.498G>A (p.Val166=) c.549G>A (p.Val183=) c.186G>A (p.Val62=) c.99G>A (p.Val33=) c.-381G>A (p.=) c.195G>A (p.Val65=) n.591G>A c.-281G>A (p.=) n.583G>A n.504G>A (p.Val168=) n.504G>A n.62+3507G>A | ClinVar dbSNP |
| 7 | g.6002488_6002489dup | CA891841993 | PMS2 | c.503_504dup (p.Arg169CysfsTer?) n.585_586dup c.497_498dup (p.Arg167CysfsTer?) c.548_549dup (p.Arg184CysfsTer?) c.185_186dup (p.Arg63CysfsTer?) c.98_99dup (p.Arg34CysfsTer?) c.-382_-381dup (p.=) c.194_195dup (p.Arg66CysfsTer?) n.590_591dup c.-282_-281dup (p.=) n.582_583dup n.503_504dup (p.Arg169CysfsTer?) n.503_504dup n.62+3506_62+3507dup | |
| 7 | g.6002487A>C | CA366744223 | PMS2 | c.503T>G (p.Val168Gly) n.585T>G c.497T>G (p.Val166Gly) c.548T>G (p.Val183Gly) c.185T>G (p.Val62Gly) c.98T>G (p.Val33Gly) c.-382T>G (p.=) c.194T>G (p.Val65Gly) n.590T>G c.-282T>G (p.=) n.582T>G n.503T>G (p.Val168Gly) n.503T>G n.62+3506T>G | |
| 7 | g.6002487A>G | CA366744224 | PMS2 | c.503T>C (p.Val168Ala) n.585T>C c.497T>C (p.Val166Ala) c.548T>C (p.Val183Ala) c.185T>C (p.Val62Ala) c.98T>C (p.Val33Ala) c.-382T>C (p.=) c.194T>C (p.Val65Ala) n.590T>C c.-282T>C (p.=) n.582T>C n.503T>C (p.Val168Ala) n.503T>C n.62+3506T>C | |
| 7 | g.6002487A>T | CA366744222 | PMS2 | c.503T>A (p.Val168Glu) n.585T>A c.497T>A (p.Val166Glu) c.548T>A (p.Val183Glu) c.185T>A (p.Val62Glu) c.98T>A (p.Val33Glu) c.-382T>A (p.=) c.194T>A (p.Val65Glu) n.590T>A c.-282T>A (p.=) n.582T>A n.503T>A (p.Val168Glu) n.503T>A n.62+3506T>A | |
| 7 | g.6002488C>A | CA366744226 | PMS2 | c.502G>T (p.Val168Leu) n.584G>T c.496G>T (p.Val166Leu) c.547G>T (p.Val183Leu) c.184G>T (p.Val62Leu) c.97G>T (p.Val33Leu) c.-383G>T (p.=) c.193G>T (p.Val65Leu) n.589G>T c.-283G>T (p.=) n.581G>T n.502G>T (p.Val168Leu) n.502G>T n.62+3505G>T | |
| 7 | g.6002488C>G | CA366744225 | PMS2 | c.502G>C (p.Val168Leu) n.584G>C c.496G>C (p.Val166Leu) c.547G>C (p.Val183Leu) c.184G>C (p.Val62Leu) c.97G>C (p.Val33Leu) c.-383G>C (p.=) c.193G>C (p.Val65Leu) n.589G>C c.-283G>C (p.=) n.581G>C n.502G>C (p.Val168Leu) n.502G>C n.62+3505G>C | |
| 7 | g.6002488C>T | CA012207 | PMS2 | c.502G>A (p.Val168Met) n.584G>A c.496G>A (p.Val166Met) c.547G>A (p.Val183Met) c.184G>A (p.Val62Met) c.97G>A (p.Val33Met) c.-383G>A (p.=) c.193G>A (p.Val65Met) n.589G>A c.-283G>A (p.=) n.581G>A n.502G>A (p.Val168Met) n.502G>A n.62+3505G>A | ClinVar dbSNP ExAC gnomAD |
| 7 | g.6002489A>C | CA453647615 | PMS2 | c.501T>G (p.Pro167=) n.583T>G c.495T>G (p.Pro165=) c.546T>G (p.Pro182=) c.183T>G (p.Pro61=) c.96T>G (p.Pro32=) c.-384T>G (p.=) c.192T>G (p.Pro64=) n.588T>G c.-284T>G (p.=) n.580T>G n.501T>G (p.Pro167=) n.501T>G n.62+3504T>G | |
| 7 | g.6002489A>G | CA453647617 | PMS2 | c.501T>C (p.Pro167=) n.583T>C c.495T>C (p.Pro165=) c.546T>C (p.Pro182=) c.183T>C (p.Pro61=) c.96T>C (p.Pro32=) c.-384T>C (p.=) c.192T>C (p.Pro64=) n.588T>C c.-284T>C (p.=) n.580T>C n.501T>C (p.Pro167=) n.501T>C n.62+3504T>C | ClinVar |
| 7 | g.6002489A>T | CA453647616 | PMS2 | c.501T>A (p.Pro167=) n.583T>A c.495T>A (p.Pro165=) c.546T>A (p.Pro182=) c.183T>A (p.Pro61=) c.96T>A (p.Pro32=) c.-384T>A (p.=) c.192T>A (p.Pro64=) n.588T>A c.-284T>A (p.=) n.580T>A n.501T>A (p.Pro167=) n.501T>A n.62+3504T>A | |
| 7 | g.6002490G>A | CA366744227 | PMS2 | c.500C>T (p.Pro167Leu) n.582C>T c.494C>T (p.Pro165Leu) c.545C>T (p.Pro182Leu) c.182C>T (p.Pro61Leu) c.95C>T (p.Pro32Leu) c.-385C>T (p.=) c.191C>T (p.Pro64Leu) n.587C>T c.-285C>T (p.=) n.579C>T n.500C>T (p.Pro167Leu) n.500C>T n.62+3503C>T | ClinVar |
| 7 | g.6002490G>C | CA366744228 | PMS2 | c.500C>G (p.Pro167Arg) n.582C>G c.494C>G (p.Pro165Arg) c.545C>G (p.Pro182Arg) c.182C>G (p.Pro61Arg) c.95C>G (p.Pro32Arg) c.-385C>G (p.=) c.191C>G (p.Pro64Arg) n.587C>G c.-285C>G (p.=) n.579C>G n.500C>G (p.Pro167Arg) n.500C>G n.62+3503C>G | ClinVar |
| 7 | g.6002490G>T | CA366744229 | PMS2 | c.500C>A (p.Pro167His) n.582C>A c.494C>A (p.Pro165His) c.545C>A (p.Pro182His) c.182C>A (p.Pro61His) c.95C>A (p.Pro32His) c.-385C>A (p.=) c.191C>A (p.Pro64His) n.587C>A c.-285C>A (p.=) n.579C>A n.500C>A (p.Pro167His) n.500C>A n.62+3503C>A | |
| 7 | g.6002491G>A | CA366744230 | PMS2 | c.499C>T (p.Pro167Ser) n.581C>T c.493C>T (p.Pro165Ser) c.544C>T (p.Pro182Ser) c.181C>T (p.Pro61Ser) c.94C>T (p.Pro32Ser) c.-386C>T (p.=) c.190C>T (p.Pro64Ser) n.586C>T c.-286C>T (p.=) n.578C>T n.499C>T (p.Pro167Ser) n.499C>T n.62+3502C>T | |
| 7 | g.6002491G>C | CA366744231 | PMS2 | c.499C>G (p.Pro167Ala) n.581C>G c.493C>G (p.Pro165Ala) c.544C>G (p.Pro182Ala) c.181C>G (p.Pro61Ala) c.94C>G (p.Pro32Ala) c.-386C>G (p.=) c.190C>G (p.Pro64Ala) n.586C>G c.-286C>G (p.=) n.578C>G n.499C>G (p.Pro167Ala) n.499C>G n.62+3502C>G | |
| 7 | g.6002491G>T | CA366744232 | PMS2 | c.499C>A (p.Pro167Thr) n.581C>A c.493C>A (p.Pro165Thr) c.544C>A (p.Pro182Thr) c.181C>A (p.Pro61Thr) c.94C>A (p.Pro32Thr) c.-386C>A (p.=) c.190C>A (p.Pro64Thr) n.586C>A c.-286C>A (p.=) n.578C>A n.499C>A (p.Pro167Thr) n.499C>A n.62+3502C>A | |
| 7 | g.6002492T>A | CA453647619 | PMS2 | c.498A>T (p.Leu166=) n.580A>T c.492A>T (p.Leu164=) c.543A>T (p.Leu181=) c.180A>T (p.Leu60=) c.93A>T (p.Leu31=) c.-387A>T (p.=) c.189A>T (p.Leu63=) n.585A>T c.-287A>T (p.=) n.577A>T n.498A>T (p.Leu166=) n.498A>T n.62+3501A>T | |
| 7 | g.6002492T>C | CA453647620 | PMS2 | c.498A>G (p.Leu166=) n.580A>G c.492A>G (p.Leu164=) c.543A>G (p.Leu181=) c.180A>G (p.Leu60=) c.93A>G (p.Leu31=) c.-387A>G (p.=) c.189A>G (p.Leu63=) n.585A>G c.-287A>G (p.=) n.577A>G n.498A>G (p.Leu166=) n.498A>G n.62+3501A>G | |
| 7 | g.6002492T>G | CA453647621 | PMS2 | c.498A>C (p.Leu166=) n.580A>C c.492A>C (p.Leu164=) c.543A>C (p.Leu181=) c.180A>C (p.Leu60=) c.93A>C (p.Leu31=) c.-387A>C (p.=) c.189A>C (p.Leu63=) n.585A>C c.-287A>C (p.=) n.577A>C n.498A>C (p.Leu166=) n.498A>C n.62+3501A>C | |
| 7 | g.6002493A>C | CA366744233 | PMS2 | c.497T>G (p.Leu166Arg) n.579T>G c.491T>G (p.Leu164Arg) c.542T>G (p.Leu181Arg) c.179T>G (p.Leu60Arg) c.92T>G (p.Leu31Arg) c.-388T>G (p.=) c.188T>G (p.Leu63Arg) n.584T>G c.-288T>G (p.=) n.576T>G n.497T>G (p.Leu166Arg) n.497T>G n.62+3500T>G | |
| 7 | g.6002493A>G | CA012179 | PMS2 | c.497T>C (p.Leu166Pro) n.579T>C c.491T>C (p.Leu164Pro) c.542T>C (p.Leu181Pro) c.179T>C (p.Leu60Pro) c.92T>C (p.Leu31Pro) c.-388T>C (p.=) c.188T>C (p.Leu63Pro) n.584T>C c.-288T>C (p.=) n.576T>C n.497T>C (p.Leu166Pro) n.497T>C n.62+3500T>C | ClinVar dbSNP ExAC gnomAD |
| 7 | g.6002493A>T | CA366744234 | PMS2 | c.497T>A (p.Leu166Gln) n.579T>A c.491T>A (p.Leu164Gln) c.542T>A (p.Leu181Gln) c.179T>A (p.Leu60Gln) c.92T>A (p.Leu31Gln) c.-388T>A (p.=) c.188T>A (p.Leu63Gln) n.584T>A c.-288T>A (p.=) n.576T>A n.497T>A (p.Leu166Gln) n.497T>A n.62+3500T>A | |
| 7 | g.6002494G>A | CA10578709 | PMS2 | c.496C>T (p.Leu166=) n.578C>T c.490C>T (p.Leu164=) c.541C>T (p.Leu181=) c.178C>T (p.Leu60=) c.91C>T (p.Leu31=) c.-389C>T (p.=) c.187C>T (p.Leu63=) n.583C>T c.-289C>T (p.=) n.575C>T n.496C>T (p.Leu166=) n.496C>T n.62+3499C>T | ClinVar dbSNP |
| 7 | g.6002494G>C | CA366744235 | PMS2 | c.496C>G (p.Leu166Val) n.578C>G c.490C>G (p.Leu164Val) c.541C>G (p.Leu181Val) c.178C>G (p.Leu60Val) c.91C>G (p.Leu31Val) c.-389C>G (p.=) c.187C>G (p.Leu63Val) n.583C>G c.-289C>G (p.=) n.575C>G n.496C>G (p.Leu166Val) n.496C>G n.62+3499C>G | |
| 7 | g.6002494G>T | CA366744236 | PMS2 | c.496C>A (p.Leu166Ile) n.578C>A c.490C>A (p.Leu164Ile) c.541C>A (p.Leu181Ile) c.178C>A (p.Leu60Ile) c.91C>A (p.Leu31Ile) c.-389C>A (p.=) c.187C>A (p.Leu63Ile) n.583C>A c.-289C>A (p.=) n.575C>A n.496C>A (p.Leu166Ile) n.496C>A n.62+3499C>A | |
| 7 | g.6002495T>A | CA453647622 | PMS2 | c.495A>T (p.Thr165=) n.577A>T c.489A>T (p.Thr163=) c.540A>T (p.Thr180=) c.177A>T (p.Thr59=) c.90A>T (p.Thr30=) c.-390A>T (p.=) c.186A>T (p.Thr62=) n.582A>T c.-290A>T (p.=) n.574A>T n.495A>T (p.Thr165=) n.495A>T n.62+3498A>T | |
| 7 | g.6002495T>C | CA16605854 | PMS2 | c.495A>G (p.Thr165=) n.577A>G c.489A>G (p.Thr163=) c.540A>G (p.Thr180=) c.177A>G (p.Thr59=) c.90A>G (p.Thr30=) c.-390A>G (p.=) c.186A>G (p.Thr62=) n.582A>G c.-290A>G (p.=) n.574A>G n.495A>G (p.Thr165=) n.495A>G n.62+3498A>G | ClinVar gnomAD |