| 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.6002383C>T | CA572548888 | PMS2 | c.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 |
| 7 | g.6002384A>G | CA153244934 | PMS2 | c.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 |
| 7 | g.6002385T>A | CA572548889 | PMS2 | c.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 |
| 7 | g.6002386C>T | CA1097974509 | PMS2 | c.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 | |
| 7 | g.6002388T>C | CA840192648 | PMS2 | c.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 | |
| 7 | g.6002393A>C | CA1097974518 | PMS2 | c.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 | |
| 7 | g.6002401T>C | CA572548890 | PMS2 | c.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 |
| 7 | g.6002405C>A | CA572548891 | PMS2 | c.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 |
| 7 | g.6002407T>C | CA050167 | PMS2 | c.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 |
| 7 | g.6002408G>A | CA050159 | PMS2 | c.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 |
| 7 | g.6002412A>G | CA050153 | PMS2 | c.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 |
| 7 | g.6002415A>T | CA572548892 | PMS2 | c.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 |
| 7 | g.6002417C>G | CA572822715 | PMS2 | c.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 |
| 7 | g.6002417C>T | CA840192679 | PMS2 | c.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 | |
| 7 | g.6002418C>T | CA572822716 | PMS2 | c.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 |
| 7 | g.6002419A>G | CA050136 | PMS2 | c.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 |
| 7 | g.6002421T>C | CA572822717 | PMS2 | c.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 |
| 7 | g.6002422A>G | CA050121 | PMS2 | c.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 |
| 7 | g.6002426T>C | CA050114 | PMS2 | c.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 |
| 7 | g.6002428G>C | CA050099 | PMS2 | c.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 |
| 7 | g.6002431A>T | CA153244986 | PMS2 | c.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 |
| 7 | g.6002435A>T | CA840192699 | PMS2 | c.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 | |
| 7 | g.6002436G>A | CA050089 | PMS2 | c.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 |
| 7 | g.6002437G>A | CA16605850 | PMS2 | c.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 |
| 7 | g.6002439T>C | CA651239946 | PMS2 | c.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 |
| 7 | g.6002442_6002443del | CA572822718 | PMS2 | c.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 |
| 7 | g.6002444T>C | CA050186 | PMS2 | c.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 |
| 7 | g.6002447C>T | CA658657651 | PMS2 | c.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 |
| 7 | g.6002448del | CA840192734 | PMS2 | c.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 |
| 7 | g.6002448T>C | CA891843337 | PMS2 | c.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 |
| 7 | g.6002449G>A | CA10582525 | PMS2 | c.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 |
| 7 | g.6002449G>C | CA349512 | PMS2 | c.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 |
| 7 | g.6002450T>C | CA10578707 | PMS2 | c.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 |
| 7 | g.6002451A>C | CA366744144 | PMS2 | c.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 | |
| 7 | g.6002451A>G | CA366744143 | PMS2 | c.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 | |
| 7 | g.6002451A>T | CA366744142 | PMS2 | c.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 | |
| 7 | g.6002452C>A | CA366744145 | PMS2 | c.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 | |
| 7 | g.6002452C>G | CA10588432 | PMS2 | c.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 |
| 7 | g.6002452C>T | CA339064 | PMS2 | c.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 |
| 7 | g.6002452del | CA16618530 | PMS2 | c.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 |
| 7 | g.6002453C>A | CA366744146 | PMS2 | c.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 | |
| 7 | g.6002453C>G | CA366744147 | PMS2 | c.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 | |
| 7 | g.6002453C>T | CA348671 | PMS2 | c.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 |
| 7 | g.6002453_6002455del | CA10577354 | PMS2 | c.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 |
| 7 | g.6002454T>A | CA366744148 | PMS2 | c.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 | |
| 7 | g.6002454T>C | CA366744149 | PMS2 | c.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 | |
| 7 | g.6002454T>G | CA366744150 | PMS2 | c.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 | |
| 7 | g.6002455T>A | CA366744151 | PMS2 | c.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 |
| 7 | g.6002455T>C | CA366744152 | PMS2 | c.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 |