Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.5997074_6004576delinsCGCA331742PMS2c.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
7g.6002480delCA16618531PMS2c.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
7g.6002480A>CCA366744211PMS2c.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
7g.6002480A>GCA453647605PMS2c.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
7g.6002480A>TCA366744212PMS2c.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
7g.6002481T>ACA366744213PMS2c.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
7g.6002481T>CCA366744214PMS2c.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
7g.6002481T>GCA366744215PMS2c.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
7g.6002482G>ACA366744216PMS2c.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
7g.6002482G>CCA366744217PMS2c.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
7g.6002482G>TCA10577350PMS2c.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
7g.6002483G>ACA453647607PMS2c.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
7g.6002483G>CCA453647608PMS2c.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
7g.6002483G>TCA453647609PMS2c.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
7g.6002484C>ACA366744218PMS2c.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
7g.6002484C>GCA366744219PMS2c.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
7g.6002484C>TCA012229PMS2c.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
7g.6002485G>ACA012217PMS2c.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
7g.6002485G>CCA366744220PMS2c.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
7g.6002485G>TCA366744221PMS2c.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
7g.6002486C>ACA453647611PMS2c.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
7g.6002486C>GCA453647612PMS2c.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
7g.6002486C>TCA10582526PMS2c.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
7g.6002488_6002489dupCA891841993PMS2c.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
7g.6002487A>CCA366744223PMS2c.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
7g.6002487A>GCA366744224PMS2c.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
7g.6002487A>TCA366744222PMS2c.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
7g.6002488C>ACA366744226PMS2c.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
7g.6002488C>GCA366744225PMS2c.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
7g.6002488C>TCA012207PMS2c.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
7g.6002489A>CCA453647615PMS2c.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
7g.6002489A>GCA453647617PMS2c.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
7g.6002489A>TCA453647616PMS2c.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
7g.6002490G>ACA366744227PMS2c.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
7g.6002490G>CCA366744228PMS2c.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
7g.6002490G>TCA366744229PMS2c.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
7g.6002491G>ACA366744230PMS2c.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
7g.6002491G>CCA366744231PMS2c.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
7g.6002491G>TCA366744232PMS2c.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
7g.6002492T>ACA453647619PMS2c.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
7g.6002492T>CCA453647620PMS2c.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
7g.6002492T>GCA453647621PMS2c.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
7g.6002493A>CCA366744233PMS2c.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
7g.6002493A>GCA012179PMS2c.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
7g.6002493A>TCA366744234PMS2c.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
7g.6002494G>ACA10578709PMS2c.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
7g.6002494G>CCA366744235PMS2c.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
7g.6002494G>TCA366744236PMS2c.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
7g.6002495T>ACA453647622PMS2c.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
7g.6002495T>CCA16605854PMS2c.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

Number of alleles fetched