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.6002383C>TCA572548888PMS2c.537+70G>A (p.=)
n.619+70G>A
c.531+70G>A (p.=)
c.582+70G>A (p.=)
c.219+70G>A (p.=)
c.132+70G>A (p.=)
c.-348+70G>A (p.=)
c.228+70G>A (p.=)
n.624+70G>A
c.-248+70G>A (p.=)
n.686G>A
n.537+70G>A (p.=)
n.537+70G>A
n.62+3610G>A
gnomAD
7g.6002384A>GCA153244934PMS2c.537+69T>C (p.=)
n.619+69T>C
c.531+69T>C (p.=)
c.582+69T>C (p.=)
c.219+69T>C (p.=)
c.132+69T>C (p.=)
c.-348+69T>C (p.=)
c.228+69T>C (p.=)
n.624+69T>C
c.-248+69T>C (p.=)
n.685T>C
n.537+69T>C (p.=)
n.537+69T>C
n.62+3609T>C
dbSNP
7g.6002385T>ACA572548889PMS2c.537+68A>T (p.=)
n.619+68A>T
c.531+68A>T (p.=)
c.582+68A>T (p.=)
c.219+68A>T (p.=)
c.132+68A>T (p.=)
c.-348+68A>T (p.=)
c.228+68A>T (p.=)
n.624+68A>T
c.-248+68A>T (p.=)
n.684A>T
n.537+68A>T (p.=)
n.537+68A>T
n.62+3608A>T
gnomAD
7g.6002386C>TCA1097974509PMS2c.537+67G>A (p.=)
n.619+67G>A
c.531+67G>A (p.=)
c.582+67G>A (p.=)
c.219+67G>A (p.=)
c.132+67G>A (p.=)
c.-348+67G>A (p.=)
c.228+67G>A (p.=)
n.624+67G>A
c.-248+67G>A (p.=)
n.683G>A
n.537+67G>A (p.=)
n.537+67G>A
n.62+3607G>A
7g.6002388T>CCA840192648PMS2c.537+65A>G (p.=)
n.619+65A>G
c.531+65A>G (p.=)
c.582+65A>G (p.=)
c.219+65A>G (p.=)
c.132+65A>G (p.=)
c.-348+65A>G (p.=)
c.228+65A>G (p.=)
n.624+65A>G
c.-248+65A>G (p.=)
n.681A>G
n.537+65A>G (p.=)
n.537+65A>G
n.62+3605A>G
7g.6002393A>CCA1097974518PMS2c.537+60T>G (p.=)
n.619+60T>G
c.531+60T>G (p.=)
c.582+60T>G (p.=)
c.219+60T>G (p.=)
c.132+60T>G (p.=)
c.-348+60T>G (p.=)
c.228+60T>G (p.=)
n.624+60T>G
c.-248+60T>G (p.=)
n.676T>G
n.537+60T>G (p.=)
n.537+60T>G
n.62+3600T>G
7g.6002401T>CCA572548890PMS2c.537+52A>G (p.=)
n.619+52A>G
c.531+52A>G (p.=)
c.582+52A>G (p.=)
c.219+52A>G (p.=)
c.132+52A>G (p.=)
c.-348+52A>G (p.=)
c.228+52A>G (p.=)
n.624+52A>G
c.-248+52A>G (p.=)
n.668A>G
n.537+52A>G (p.=)
n.537+52A>G
n.62+3592A>G
gnomAD
7g.6002405C>ACA572548891PMS2c.537+48G>T (p.=)
n.619+48G>T
c.531+48G>T (p.=)
c.582+48G>T (p.=)
c.219+48G>T (p.=)
c.132+48G>T (p.=)
c.-348+48G>T (p.=)
c.228+48G>T (p.=)
n.624+48G>T
c.-248+48G>T (p.=)
n.664G>T
n.537+48G>T (p.=)
n.537+48G>T
n.62+3588G>T
gnomAD
7g.6002407T>CCA050167PMS2c.537+46A>G (p.=)
n.619+46A>G
c.531+46A>G (p.=)
c.582+46A>G (p.=)
c.219+46A>G (p.=)
c.132+46A>G (p.=)
c.-348+46A>G (p.=)
c.228+46A>G (p.=)
n.624+46A>G
c.-248+46A>G (p.=)
n.662A>G
n.537+46A>G (p.=)
n.537+46A>G
n.62+3586A>G
dbSNP ExAC gnomAD
7g.6002408G>ACA050159PMS2c.537+45C>T (p.=)
n.619+45C>T
c.531+45C>T (p.=)
c.582+45C>T (p.=)
c.219+45C>T (p.=)
c.132+45C>T (p.=)
c.-348+45C>T (p.=)
c.228+45C>T (p.=)
n.624+45C>T
c.-248+45C>T (p.=)
n.661C>T
n.537+45C>T (p.=)
n.537+45C>T
n.62+3585C>T
dbSNP ExAC gnomAD
7g.6002412A>GCA050153PMS2c.537+41T>C (p.=)
n.619+41T>C
c.531+41T>C (p.=)
c.582+41T>C (p.=)
c.219+41T>C (p.=)
c.132+41T>C (p.=)
c.-348+41T>C (p.=)
c.228+41T>C (p.=)
n.624+41T>C
c.-248+41T>C (p.=)
n.657T>C
n.537+41T>C (p.=)
n.537+41T>C
n.62+3581T>C
dbSNP ExAC gnomAD
7g.6002415A>TCA572548892PMS2c.537+38T>A (p.=)
n.619+38T>A
c.531+38T>A (p.=)
c.582+38T>A (p.=)
c.219+38T>A (p.=)
c.132+38T>A (p.=)
c.-348+38T>A (p.=)
c.228+38T>A (p.=)
n.624+38T>A
c.-248+38T>A (p.=)
n.654T>A
n.537+38T>A (p.=)
n.537+38T>A
n.62+3578T>A
gnomAD
7g.6002417C>GCA572822715PMS2c.537+36G>C (p.=)
n.619+36G>C
c.531+36G>C (p.=)
c.582+36G>C (p.=)
c.219+36G>C (p.=)
c.132+36G>C (p.=)
c.-348+36G>C (p.=)
c.228+36G>C (p.=)
n.624+36G>C
c.-248+36G>C (p.=)
n.652G>C
n.537+36G>C (p.=)
n.537+36G>C
n.62+3576G>C
gnomAD
7g.6002417C>TCA840192679PMS2c.537+36G>A (p.=)
n.619+36G>A
c.531+36G>A (p.=)
c.582+36G>A (p.=)
c.219+36G>A (p.=)
c.132+36G>A (p.=)
c.-348+36G>A (p.=)
c.228+36G>A (p.=)
n.624+36G>A
c.-248+36G>A (p.=)
n.652G>A
n.537+36G>A (p.=)
n.537+36G>A
n.62+3576G>A
7g.6002418C>TCA572822716PMS2c.537+35G>A (p.=)
n.619+35G>A
c.531+35G>A (p.=)
c.582+35G>A (p.=)
c.219+35G>A (p.=)
c.132+35G>A (p.=)
c.-348+35G>A (p.=)
c.228+35G>A (p.=)
n.624+35G>A
c.-248+35G>A (p.=)
n.651G>A
n.537+35G>A (p.=)
n.537+35G>A
n.62+3575G>A
gnomAD
7g.6002419A>GCA050136PMS2c.537+34T>C (p.=)
n.619+34T>C
c.531+34T>C (p.=)
c.582+34T>C (p.=)
c.219+34T>C (p.=)
c.132+34T>C (p.=)
c.-348+34T>C (p.=)
c.228+34T>C (p.=)
n.624+34T>C
c.-248+34T>C (p.=)
n.650T>C
n.537+34T>C (p.=)
n.537+34T>C
n.62+3574T>C
dbSNP ExAC gnomAD
7g.6002421T>CCA572822717PMS2c.537+32A>G (p.=)
n.619+32A>G
c.531+32A>G (p.=)
c.582+32A>G (p.=)
c.219+32A>G (p.=)
c.132+32A>G (p.=)
c.-348+32A>G (p.=)
c.228+32A>G (p.=)
n.624+32A>G
c.-248+32A>G (p.=)
n.648A>G
n.537+32A>G (p.=)
n.537+32A>G
n.62+3572A>G
gnomAD
7g.6002422A>GCA050121PMS2c.537+31T>C (p.=)
n.619+31T>C
c.531+31T>C (p.=)
c.582+31T>C (p.=)
c.219+31T>C (p.=)
c.132+31T>C (p.=)
c.-348+31T>C (p.=)
c.228+31T>C (p.=)
n.624+31T>C
c.-248+31T>C (p.=)
n.647T>C
n.537+31T>C (p.=)
n.537+31T>C
n.62+3571T>C
dbSNP ExAC
7g.6002426T>CCA050114PMS2c.537+27A>G (p.=)
n.619+27A>G
c.531+27A>G (p.=)
c.582+27A>G (p.=)
c.219+27A>G (p.=)
c.132+27A>G (p.=)
c.-348+27A>G (p.=)
c.228+27A>G (p.=)
n.624+27A>G
c.-248+27A>G (p.=)
n.643A>G
n.537+27A>G (p.=)
n.537+27A>G
n.62+3567A>G
dbSNP ExAC gnomAD
7g.6002428G>CCA050099PMS2c.537+25C>G (p.=)
n.619+25C>G
c.531+25C>G (p.=)
c.582+25C>G (p.=)
c.219+25C>G (p.=)
c.132+25C>G (p.=)
c.-348+25C>G (p.=)
c.228+25C>G (p.=)
n.624+25C>G
c.-248+25C>G (p.=)
n.641C>G
n.537+25C>G (p.=)
n.537+25C>G
n.62+3565C>G
dbSNP ExAC gnomAD COSMIC COSMIC
7g.6002431A>TCA153244986PMS2c.537+22T>A (p.=)
n.619+22T>A
c.531+22T>A (p.=)
c.582+22T>A (p.=)
c.219+22T>A (p.=)
c.132+22T>A (p.=)
c.-348+22T>A (p.=)
c.228+22T>A (p.=)
n.624+22T>A
c.-248+22T>A (p.=)
n.638T>A
n.537+22T>A (p.=)
n.537+22T>A
n.62+3562T>A
dbSNP gnomAD
7g.6002435A>TCA840192699PMS2c.537+18T>A (p.=)
n.619+18T>A
c.531+18T>A (p.=)
c.582+18T>A (p.=)
c.219+18T>A (p.=)
c.132+18T>A (p.=)
c.-348+18T>A (p.=)
c.228+18T>A (p.=)
n.624+18T>A
c.-248+18T>A (p.=)
n.634T>A
n.537+18T>A (p.=)
n.537+18T>A
n.62+3558T>A
7g.6002436G>ACA050089PMS2c.537+17C>T (p.=)
n.619+17C>T
c.531+17C>T (p.=)
c.582+17C>T (p.=)
c.219+17C>T (p.=)
c.132+17C>T (p.=)
c.-348+17C>T (p.=)
c.228+17C>T (p.=)
n.624+17C>T
c.-248+17C>T (p.=)
n.633C>T
n.537+17C>T (p.=)
n.537+17C>T
n.62+3557C>T
ClinVar dbSNP ExAC gnomAD COSMIC
7g.6002437G>ACA16605850PMS2c.537+16C>T (p.=)
n.619+16C>T
c.531+16C>T (p.=)
c.582+16C>T (p.=)
c.219+16C>T (p.=)
c.132+16C>T (p.=)
c.-348+16C>T (p.=)
c.228+16C>T (p.=)
n.624+16C>T
c.-248+16C>T (p.=)
n.632C>T
n.537+16C>T (p.=)
n.537+16C>T
n.62+3556C>T
ClinVar
7g.6002439T>CCA651239946PMS2c.537+14A>G (p.=)
n.619+14A>G
c.531+14A>G (p.=)
c.582+14A>G (p.=)
c.219+14A>G (p.=)
c.132+14A>G (p.=)
c.-348+14A>G (p.=)
c.228+14A>G (p.=)
n.624+14A>G
c.-248+14A>G (p.=)
n.630A>G
n.537+14A>G (p.=)
n.537+14A>G
n.62+3554A>G
COSMIC
7g.6002442_6002443delCA572822718PMS2c.537+10_537+11del (p.=)
n.619+10_619+11del
c.531+10_531+11del (p.=)
c.582+10_582+11del (p.=)
c.219+10_219+11del (p.=)
c.132+10_132+11del (p.=)
c.-348+10_-348+11del (p.=)
c.228+10_228+11del (p.=)
n.624+10_624+11del
c.-248+10_-248+11del (p.=)
n.626_627del
n.537+10_537+11del (p.=)
n.537+10_537+11del
n.62+3550_62+3551del
dbSNP gnomAD
7g.6002444T>CCA050186PMS2c.537+9A>G (p.=)
n.619+9A>G
c.531+9A>G (p.=)
c.582+9A>G (p.=)
c.219+9A>G (p.=)
c.132+9A>G (p.=)
c.-348+9A>G (p.=)
c.228+9A>G (p.=)
n.624+9A>G
c.-248+9A>G (p.=)
n.625A>G
n.537+9A>G (p.=)
n.537+9A>G
n.62+3549A>G
ClinVar dbSNP ExAC gnomAD
7g.6002447C>TCA658657651PMS2c.537+6G>A (p.=)
n.619+6G>A
c.531+6G>A (p.=)
c.582+6G>A (p.=)
c.219+6G>A (p.=)
c.132+6G>A (p.=)
c.-348+6G>A (p.=)
c.228+6G>A (p.=)
n.624+6G>A
c.-248+6G>A (p.=)
n.622G>A
n.537+6G>A (p.=)
n.537+6G>A
n.62+3546G>A
ClinVar
7g.6002448delCA840192734PMS2c.537+5del (p.=)
n.619+5del
c.531+5del (p.=)
c.582+5del (p.=)
c.219+5del (p.=)
c.132+5del (p.=)
c.-348+5del (p.=)
c.228+5del (p.=)
n.624+5del
c.-248+5del (p.=)
n.621del
n.537+5del (p.=)
n.537+5del
n.62+3545del
dbSNP
7g.6002448T>CCA891843337PMS2c.537+5A>G (p.=)
n.619+5A>G
c.531+5A>G (p.=)
c.582+5A>G (p.=)
c.219+5A>G (p.=)
c.132+5A>G (p.=)
c.-348+5A>G (p.=)
c.228+5A>G (p.=)
n.624+5A>G
c.-248+5A>G (p.=)
n.621A>G
n.537+5A>G (p.=)
n.537+5A>G
n.62+3545A>G
ClinVar
7g.6002449G>ACA10582525PMS2c.537+4C>T (p.=)
n.619+4C>T
c.531+4C>T (p.=)
c.582+4C>T (p.=)
c.219+4C>T (p.=)
c.132+4C>T (p.=)
c.-348+4C>T (p.=)
c.228+4C>T (p.=)
n.624+4C>T
c.-248+4C>T (p.=)
n.620C>T
n.537+4C>T (p.=)
n.537+4C>T
n.62+3544C>T
ClinVar dbSNP
7g.6002449G>CCA349512PMS2c.537+4C>G (p.=)
n.619+4C>G
c.531+4C>G (p.=)
c.582+4C>G (p.=)
c.219+4C>G (p.=)
c.132+4C>G (p.=)
c.-348+4C>G (p.=)
c.228+4C>G (p.=)
n.624+4C>G
c.-248+4C>G (p.=)
n.620C>G
n.537+4C>G (p.=)
n.537+4C>G
n.62+3544C>G
ClinVar dbSNP
7g.6002450T>CCA10578707PMS2c.537+3A>G (p.=)
n.619+3A>G
c.531+3A>G (p.=)
c.582+3A>G (p.=)
c.219+3A>G (p.=)
c.132+3A>G (p.=)
c.-348+3A>G (p.=)
c.228+3A>G (p.=)
n.624+3A>G
c.-248+3A>G (p.=)
n.619A>G
n.537+3A>G (p.=)
n.537+3A>G
n.62+3543A>G
ClinVar dbSNP
7g.6002451A>CCA366744144PMS2c.537+2T>G (p.=)
n.619+2T>G
c.531+2T>G (p.=)
c.582+2T>G (p.=)
c.219+2T>G (p.=)
c.132+2T>G (p.=)
c.-348+2T>G (p.=)
c.228+2T>G (p.=)
n.624+2T>G
c.-248+2T>G (p.=)
n.618T>G
n.537+2T>G (p.=)
n.537+2T>G
n.62+3542T>G
7g.6002451A>GCA366744143PMS2c.537+2T>C (p.=)
n.619+2T>C
c.531+2T>C (p.=)
c.582+2T>C (p.=)
c.219+2T>C (p.=)
c.132+2T>C (p.=)
c.-348+2T>C (p.=)
c.228+2T>C (p.=)
n.624+2T>C
c.-248+2T>C (p.=)
n.618T>C
n.537+2T>C (p.=)
n.537+2T>C
n.62+3542T>C
7g.6002451A>TCA366744142PMS2c.537+2T>A (p.=)
n.619+2T>A
c.531+2T>A (p.=)
c.582+2T>A (p.=)
c.219+2T>A (p.=)
c.132+2T>A (p.=)
c.-348+2T>A (p.=)
c.228+2T>A (p.=)
n.624+2T>A
c.-248+2T>A (p.=)
n.618T>A
n.537+2T>A (p.=)
n.537+2T>A
n.62+3542T>A
7g.6002452C>ACA366744145PMS2c.537+1G>T (p.=)
n.619+1G>T
c.531+1G>T (p.=)
c.582+1G>T (p.=)
c.219+1G>T (p.=)
c.132+1G>T (p.=)
c.-348+1G>T (p.=)
c.228+1G>T (p.=)
n.624+1G>T
c.-248+1G>T (p.=)
n.617G>T
n.537+1G>T (p.=)
n.537+1G>T
n.62+3541G>T
7g.6002452C>GCA10588432PMS2c.537+1G>C (p.=)
n.619+1G>C
c.531+1G>C (p.=)
c.582+1G>C (p.=)
c.219+1G>C (p.=)
c.132+1G>C (p.=)
c.-348+1G>C (p.=)
c.228+1G>C (p.=)
n.624+1G>C
c.-248+1G>C (p.=)
n.617G>C
n.537+1G>C (p.=)
n.537+1G>C
n.62+3541G>C
ClinVar dbSNP
7g.6002452C>TCA339064PMS2c.537+1G>A (p.=)
n.619+1G>A
c.531+1G>A (p.=)
c.582+1G>A (p.=)
c.219+1G>A (p.=)
c.132+1G>A (p.=)
c.-348+1G>A (p.=)
c.228+1G>A (p.=)
n.624+1G>A
c.-248+1G>A (p.=)
n.617G>A
n.537+1G>A (p.=)
n.537+1G>A
n.62+3541G>A
ClinVar dbSNP gnomAD
7g.6002452delCA16618530PMS2c.537del
n.619del
c.531del
c.582del
c.219del
c.132del
c.-348del
c.228del
n.624del
c.-248del
n.616del
n.537del
n.62+3540del
ClinVar dbSNP
7g.6002453C>ACA366744146PMS2c.537G>T (p.Lys179Asn)
n.619G>T
c.531G>T (p.Lys177Asn)
c.582G>T (p.Lys194Asn)
c.219G>T (p.Lys73Asn)
c.132G>T (p.Lys44Asn)
c.-348G>T (p.=)
c.228G>T (p.Lys76Asn)
n.624G>T
c.-248G>T (p.=)
n.616G>T
n.537G>T (p.Lys179Asn)
n.537G>T
n.62+3540G>T
7g.6002453C>GCA366744147PMS2c.537G>C (p.Lys179Asn)
n.619G>C
c.531G>C (p.Lys177Asn)
c.582G>C (p.Lys194Asn)
c.219G>C (p.Lys73Asn)
c.132G>C (p.Lys44Asn)
c.-348G>C (p.=)
c.228G>C (p.Lys76Asn)
n.624G>C
c.-248G>C (p.=)
n.616G>C
n.537G>C (p.Lys179Asn)
n.537G>C
n.62+3540G>C
7g.6002453C>TCA348671PMS2c.537G>A (p.Lys179=)
n.619G>A
c.531G>A (p.Lys177=)
c.582G>A (p.Lys194=)
c.219G>A (p.Lys73=)
c.132G>A (p.Lys44=)
c.-348G>A (p.=)
c.228G>A (p.Lys76=)
n.624G>A
c.-248G>A (p.=)
n.616G>A
n.537G>A (p.Lys179=)
n.537G>A
n.62+3540G>A
ClinVar dbSNP
7g.6002453_6002455delCA10577354PMS2c.532_534del (p.Lys179del)
n.614_616del
c.526_528del (p.Lys177del)
c.577_579del (p.Lys194del)
c.214_216del (p.Lys73del)
c.127_129del (p.Lys44del)
c.-353_-351del (p.=)
c.223_225del (p.Lys76del)
n.619_621del
c.-253_-251del (p.=)
n.611_613del
n.532_534del (p.Lys179del)
n.532_534del
n.62+3535_62+3537del
ClinVar dbSNP
7g.6002454T>ACA366744148PMS2c.536A>T (p.Lys179Met)
n.618A>T
c.530A>T (p.Lys177Met)
c.581A>T (p.Lys194Met)
c.218A>T (p.Lys73Met)
c.131A>T (p.Lys44Met)
c.-349A>T (p.=)
c.227A>T (p.Lys76Met)
n.623A>T
c.-249A>T (p.=)
n.615A>T
n.536A>T (p.Lys179Met)
n.536A>T
n.62+3539A>T
7g.6002454T>CCA366744149PMS2c.536A>G (p.Lys179Arg)
n.618A>G
c.530A>G (p.Lys177Arg)
c.581A>G (p.Lys194Arg)
c.218A>G (p.Lys73Arg)
c.131A>G (p.Lys44Arg)
c.-349A>G (p.=)
c.227A>G (p.Lys76Arg)
n.623A>G
c.-249A>G (p.=)
n.615A>G
n.536A>G (p.Lys179Arg)
n.536A>G
n.62+3539A>G
7g.6002454T>GCA366744150PMS2c.536A>C (p.Lys179Thr)
n.618A>C
c.530A>C (p.Lys177Thr)
c.581A>C (p.Lys194Thr)
c.218A>C (p.Lys73Thr)
c.131A>C (p.Lys44Thr)
c.-349A>C (p.=)
c.227A>C (p.Lys76Thr)
n.623A>C
c.-249A>C (p.=)
n.615A>C
n.536A>C (p.Lys179Thr)
n.536A>C
n.62+3539A>C
7g.6002455T>ACA366744151PMS2c.535A>T (p.Lys179Ter)
n.617A>T
c.529A>T (p.Lys177Ter)
c.580A>T (p.Lys194Ter)
c.217A>T (p.Lys73Ter)
c.130A>T (p.Lys44Ter)
c.-350A>T (p.=)
c.226A>T (p.Lys76Ter)
n.622A>T
c.-250A>T (p.=)
n.614A>T
n.535A>T (p.Lys179Ter)
n.535A>T
n.62+3538A>T
ClinVar
7g.6002455T>CCA366744152PMS2c.535A>G (p.Lys179Glu)
n.617A>G
c.529A>G (p.Lys177Glu)
c.580A>G (p.Lys194Glu)
c.217A>G (p.Lys73Glu)
c.130A>G (p.Lys44Glu)
c.-350A>G (p.=)
c.226A>G (p.Lys76Glu)
n.622A>G
c.-250A>G (p.=)
n.614A>G
n.535A>G (p.Lys179Glu)
n.535A>G
n.62+3538A>G

Number of alleles fetched