| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.5989115_5990272del | CA331774 | PMS2 | c.989-296_1144+706del c.584-296_739+706del c.*388-296_*543+706del n.671-296_826+706del n.803+7075_804-6103del (p.=) n.989-296_1144+706del c.671-296_826+706del n.63-7346_63-6189del n.1071-296_1226+706del c.983-296_1138+706del c.56-296_211+706del c.1034-296_1189+706del c.1033+1722_1034-1474del (p.=) c.988+1722_989-1474del (p.=) c.583+1722_584-1474del (p.=) c.416-296_571+706del c.680-296_835+706del n.1076-296_1231+706del | ClinVar |
| 7 | g.5989696_5989698del | CA1685235620 | PMS2 | c.1144+103_1144+105del (p.=) c.739+103_739+105del (p.=) c.*543+103_*543+105del (p.=) n.826+103_826+105del (p.=) n.804-6706_804-6704del (p.=) n.1144+103_1144+105del c.826+103_826+105del (p.=) n.63-6792_63-6790del n.1226+103_1226+105del c.1138+103_1138+105del (p.=) c.211+103_211+105del (p.=) c.1189+103_1189+105del (p.=) c.1034-2077_1034-2075del (p.=) c.989-2077_989-2075del (p.=) c.584-2077_584-2075del (p.=) c.571+103_571+105del (p.=) c.835+103_835+105del (p.=) n.1231+103_1231+105del | dbSNP |
| 7 | g.5989696_5989698delinsTAA | CA1685235624 | PMS2 | c.1144+102_1144+104delinsTTA (p.=) c.739+102_739+104delinsTTA (p.=) c.*543+102_*543+104delinsTTA (p.=) n.826+102_826+104delinsTTA (p.=) n.804-6707_804-6705delinsTTA (p.=) n.1144+102_1144+104delinsTTA c.826+102_826+104delinsTTA (p.=) n.63-6793_63-6791delinsTTA n.1226+102_1226+104delinsTTA c.1138+102_1138+104delinsTTA (p.=) c.211+102_211+104delinsTTA (p.=) c.1189+102_1189+104delinsTTA (p.=) c.1034-2078_1034-2076delinsTTA (p.=) c.989-2078_989-2076delinsTTA (p.=) c.584-2078_584-2076delinsTTA (p.=) c.571+102_571+104delinsTTA (p.=) c.835+102_835+104delinsTTA (p.=) n.1231+102_1231+104delinsTTA | |
| 7 | g.5989697_5989698del | CA153230412 | PMS2 | c.1144+102_1144+103del (p.=) c.739+102_739+103del (p.=) c.*543+102_*543+103del (p.=) n.826+102_826+103del (p.=) n.804-6707_804-6706del (p.=) n.1144+102_1144+103del c.826+102_826+103del (p.=) n.63-6793_63-6792del n.1226+102_1226+103del c.1138+102_1138+103del (p.=) c.211+102_211+103del (p.=) c.1189+102_1189+103del (p.=) c.1034-2078_1034-2077del (p.=) c.989-2078_989-2077del (p.=) c.584-2078_584-2077del (p.=) c.571+102_571+103del (p.=) c.835+102_835+103del (p.=) n.1231+102_1231+103del | dbSNP |
| 7 | g.5989701G= | CA1685235636 | PMS2 | c.1144+99C= (p.=) c.739+99C= (p.=) c.*543+99C= (p.=) n.826+99C= (p.=) n.804-6710C= (p.=) n.1144+99C= c.826+99C= (p.=) n.63-6796C= n.1226+99C= c.1138+99C= (p.=) c.211+99C= (p.=) c.1189+99C= (p.=) c.1034-2081C= (p.=) c.989-2081C= (p.=) c.584-2081C= (p.=) c.571+99C= (p.=) c.835+99C= (p.=) n.1231+99C= | |
| 7 | g.5989701G>T | CA153230416 | PMS2 | c.1144+99C>A (p.=) c.739+99C>A (p.=) c.*543+99C>A (p.=) n.826+99C>A (p.=) n.804-6710C>A (p.=) n.1144+99C>A c.826+99C>A (p.=) n.63-6796C>A n.1226+99C>A c.1138+99C>A (p.=) c.211+99C>A (p.=) c.1189+99C>A (p.=) c.1034-2081C>A (p.=) c.989-2081C>A (p.=) c.584-2081C>A (p.=) c.571+99C>A (p.=) c.835+99C>A (p.=) n.1231+99C>A | dbSNP |
| 7 | g.5989703C= | CA1685235638 | PMS2 | c.1144+97G= (p.=) c.739+97G= (p.=) c.*543+97G= (p.=) n.826+97G= (p.=) n.804-6712G= (p.=) n.1144+97G= c.826+97G= (p.=) n.63-6798G= n.1226+97G= c.1138+97G= (p.=) c.211+97G= (p.=) c.1189+97G= (p.=) c.1034-2083G= (p.=) c.989-2083G= (p.=) c.584-2083G= (p.=) c.571+97G= (p.=) c.835+97G= (p.=) n.1231+97G= | |
| 7 | g.5989703C>T | CA153230418 | PMS2 | c.1144+97G>A (p.=) c.739+97G>A (p.=) c.*543+97G>A (p.=) n.826+97G>A (p.=) n.804-6712G>A (p.=) n.1144+97G>A c.826+97G>A (p.=) n.63-6798G>A n.1226+97G>A c.1138+97G>A (p.=) c.211+97G>A (p.=) c.1189+97G>A (p.=) c.1034-2083G>A (p.=) c.989-2083G>A (p.=) c.584-2083G>A (p.=) c.571+97G>A (p.=) c.835+97G>A (p.=) n.1231+97G>A | dbSNP gnomAD |
| 7 | g.5989703_5989705delinsCTT | CA1685235640 | PMS2 | c.1144+95_1144+97delinsAAG (p.=) c.739+95_739+97delinsAAG (p.=) c.*543+95_*543+97delinsAAG (p.=) n.826+95_826+97delinsAAG (p.=) n.804-6714_804-6712delinsAAG (p.=) n.1144+95_1144+97delinsAAG c.826+95_826+97delinsAAG (p.=) n.63-6800_63-6798delinsAAG n.1226+95_1226+97delinsAAG c.1138+95_1138+97delinsAAG (p.=) c.211+95_211+97delinsAAG (p.=) c.1189+95_1189+97delinsAAG (p.=) c.1034-2085_1034-2083delinsAAG (p.=) c.989-2085_989-2083delinsAAG (p.=) c.584-2085_584-2083delinsAAG (p.=) c.571+95_571+97delinsAAG (p.=) c.835+95_835+97delinsAAG (p.=) n.1231+95_1231+97delinsAAG | |
| 7 | g.5989705_5989706del | CA153230420 | PMS2 | c.1144+95_1144+96del (p.=) c.739+95_739+96del (p.=) c.*543+95_*543+96del (p.=) n.826+95_826+96del (p.=) n.804-6714_804-6713del (p.=) n.1144+95_1144+96del c.826+95_826+96del (p.=) n.63-6800_63-6799del n.1226+95_1226+96del c.1138+95_1138+96del (p.=) c.211+95_211+96del (p.=) c.1189+95_1189+96del (p.=) c.1034-2085_1034-2084del (p.=) c.989-2085_989-2084del (p.=) c.584-2085_584-2084del (p.=) c.571+95_571+96del (p.=) c.835+95_835+96del (p.=) n.1231+95_1231+96del | dbSNP |
| 7 | g.5989706T>C | CA840179309 | PMS2 | c.1144+94A>G (p.=) c.739+94A>G (p.=) c.*543+94A>G (p.=) n.826+94A>G (p.=) n.804-6715A>G (p.=) n.1144+94A>G c.826+94A>G (p.=) n.63-6801A>G n.1226+94A>G c.1138+94A>G (p.=) c.211+94A>G (p.=) c.1189+94A>G (p.=) c.1034-2086A>G (p.=) c.989-2086A>G (p.=) c.584-2086A>G (p.=) c.571+94A>G (p.=) c.835+94A>G (p.=) n.1231+94A>G | |
| 7 | g.5989706T= | CA1685235646 | PMS2 | c.1144+94A= (p.=) c.739+94A= (p.=) c.*543+94A= (p.=) n.826+94A= (p.=) n.804-6715A= (p.=) n.1144+94A= c.826+94A= (p.=) n.63-6801A= n.1226+94A= c.1138+94A= (p.=) c.211+94A= (p.=) c.1189+94A= (p.=) c.1034-2086A= (p.=) c.989-2086A= (p.=) c.584-2086A= (p.=) c.571+94A= (p.=) c.835+94A= (p.=) n.1231+94A= | |
| 7 | g.5989710T>A | CA1097963962 | PMS2 | c.1144+90A>T (p.=) c.739+90A>T (p.=) c.*543+90A>T (p.=) n.826+90A>T (p.=) n.804-6719A>T (p.=) n.1144+90A>T c.826+90A>T (p.=) n.63-6805A>T n.1226+90A>T c.1138+90A>T (p.=) c.211+90A>T (p.=) c.1189+90A>T (p.=) c.1034-2090A>T (p.=) c.989-2090A>T (p.=) c.584-2090A>T (p.=) c.571+90A>T (p.=) c.835+90A>T (p.=) n.1231+90A>T | |
| 7 | g.5989710T= | CA1685235648 | PMS2 | c.1144+90A= (p.=) c.739+90A= (p.=) c.*543+90A= (p.=) n.826+90A= (p.=) n.804-6719A= (p.=) n.1144+90A= c.826+90A= (p.=) n.63-6805A= n.1226+90A= c.1138+90A= (p.=) c.211+90A= (p.=) c.1189+90A= (p.=) c.1034-2090A= (p.=) c.989-2090A= (p.=) c.584-2090A= (p.=) c.571+90A= (p.=) c.835+90A= (p.=) n.1231+90A= | |
| 7 | g.5989714T>C | CA1097963964 | PMS2 | c.1144+86A>G (p.=) c.739+86A>G (p.=) c.*543+86A>G (p.=) n.826+86A>G (p.=) n.804-6723A>G (p.=) n.1144+86A>G c.826+86A>G (p.=) n.63-6809A>G n.1226+86A>G c.1138+86A>G (p.=) c.211+86A>G (p.=) c.1189+86A>G (p.=) c.1034-2094A>G (p.=) c.989-2094A>G (p.=) c.584-2094A>G (p.=) c.571+86A>G (p.=) c.835+86A>G (p.=) n.1231+86A>G | |
| 7 | g.5989714T= | CA1685235651 | PMS2 | c.1144+86A= (p.=) c.739+86A= (p.=) c.*543+86A= (p.=) n.826+86A= (p.=) n.804-6723A= (p.=) n.1144+86A= c.826+86A= (p.=) n.63-6809A= n.1226+86A= c.1138+86A= (p.=) c.211+86A= (p.=) c.1189+86A= (p.=) c.1034-2094A= (p.=) c.989-2094A= (p.=) c.584-2094A= (p.=) c.571+86A= (p.=) c.835+86A= (p.=) n.1231+86A= | |
| 7 | g.5989717_5989718delinsCA | CA1685235655 | PMS2 | c.1144+82_1144+83delinsTG (p.=) c.739+82_739+83delinsTG (p.=) c.*543+82_*543+83delinsTG (p.=) n.826+82_826+83delinsTG (p.=) n.804-6727_804-6726delinsTG (p.=) n.1144+82_1144+83delinsTG c.826+82_826+83delinsTG (p.=) n.63-6813_63-6812delinsTG n.1226+82_1226+83delinsTG c.1138+82_1138+83delinsTG (p.=) c.211+82_211+83delinsTG (p.=) c.1189+82_1189+83delinsTG (p.=) c.1034-2098_1034-2097delinsTG (p.=) c.989-2098_989-2097delinsTG (p.=) c.584-2098_584-2097delinsTG (p.=) c.571+82_571+83delinsTG (p.=) c.835+82_835+83delinsTG (p.=) n.1231+82_1231+83delinsTG | |
| 7 | g.5989718A= | CA1685235664 | PMS2 | c.1144+82T= (p.=) c.739+82T= (p.=) c.*543+82T= (p.=) n.826+82T= (p.=) n.804-6727T= (p.=) n.1144+82T= c.826+82T= (p.=) n.63-6813T= n.1226+82T= c.1138+82T= (p.=) c.211+82T= (p.=) c.1189+82T= (p.=) c.1034-2098T= (p.=) c.989-2098T= (p.=) c.584-2098T= (p.=) c.571+82T= (p.=) c.835+82T= (p.=) n.1231+82T= | |
| 7 | g.5989718A>C | CA1685235667 | PMS2 | c.1144+82T>G (p.=) c.739+82T>G (p.=) c.*543+82T>G (p.=) n.826+82T>G (p.=) n.804-6727T>G (p.=) n.1144+82T>G c.826+82T>G (p.=) n.63-6813T>G n.1226+82T>G c.1138+82T>G (p.=) c.211+82T>G (p.=) c.1189+82T>G (p.=) c.1034-2098T>G (p.=) c.989-2098T>G (p.=) c.584-2098T>G (p.=) c.571+82T>G (p.=) c.835+82T>G (p.=) n.1231+82T>G | |
| 7 | g.5989725dup | CA572822662 | PMS2 | c.1144+82dup (p.=) c.739+82dup (p.=) c.*543+82dup (p.=) n.826+82dup (p.=) n.804-6727dup (p.=) n.1144+82dup c.826+82dup (p.=) n.63-6813dup n.1226+82dup c.1138+82dup (p.=) c.211+82dup (p.=) c.1189+82dup (p.=) c.1034-2098dup (p.=) c.989-2098dup (p.=) c.584-2098dup (p.=) c.571+82dup (p.=) c.835+82dup (p.=) n.1231+82dup | dbSNP gnomAD |
| 7 | g.5989725del | CA840179313 | PMS2 | c.1144+82del (p.=) c.739+82del (p.=) c.*543+82del (p.=) n.826+82del (p.=) n.804-6727del (p.=) n.1144+82del c.826+82del (p.=) n.63-6813del n.1226+82del c.1138+82del (p.=) c.211+82del (p.=) c.1189+82del (p.=) c.1034-2098del (p.=) c.989-2098del (p.=) c.584-2098del (p.=) c.571+82del (p.=) c.835+82del (p.=) n.1231+82del | dbSNP |
| 7 | g.5989723A= | CA1685235690 | PMS2 | c.1144+77T= (p.=) c.739+77T= (p.=) c.*543+77T= (p.=) n.826+77T= (p.=) n.804-6732T= (p.=) n.1144+77T= c.826+77T= (p.=) n.63-6818T= n.1226+77T= c.1138+77T= (p.=) c.211+77T= (p.=) c.1189+77T= (p.=) c.1034-2103T= (p.=) c.989-2103T= (p.=) c.584-2103T= (p.=) c.571+77T= (p.=) c.835+77T= (p.=) n.1231+77T= | |
| 7 | g.5989723A>G | CA1685235691 | PMS2 | c.1144+77T>C (p.=) c.739+77T>C (p.=) c.*543+77T>C (p.=) n.826+77T>C (p.=) n.804-6732T>C (p.=) n.1144+77T>C c.826+77T>C (p.=) n.63-6818T>C n.1226+77T>C c.1138+77T>C (p.=) c.211+77T>C (p.=) c.1189+77T>C (p.=) c.1034-2103T>C (p.=) c.989-2103T>C (p.=) c.584-2103T>C (p.=) c.571+77T>C (p.=) c.835+77T>C (p.=) n.1231+77T>C | |
| 7 | g.5989724A= | CA1685235693 | PMS2 | c.1144+76T= (p.=) c.739+76T= (p.=) c.*543+76T= (p.=) n.826+76T= (p.=) n.804-6733T= (p.=) n.1144+76T= c.826+76T= (p.=) n.63-6819T= n.1226+76T= c.1138+76T= (p.=) c.211+76T= (p.=) c.1189+76T= (p.=) c.1034-2104T= (p.=) c.989-2104T= (p.=) c.584-2104T= (p.=) c.571+76T= (p.=) c.835+76T= (p.=) n.1231+76T= | |
| 7 | g.5989724A>G | CA1685235695 | PMS2 | c.1144+76T>C (p.=) c.739+76T>C (p.=) c.*543+76T>C (p.=) n.826+76T>C (p.=) n.804-6733T>C (p.=) n.1144+76T>C c.826+76T>C (p.=) n.63-6819T>C n.1226+76T>C c.1138+76T>C (p.=) c.211+76T>C (p.=) c.1189+76T>C (p.=) c.1034-2104T>C (p.=) c.989-2104T>C (p.=) c.584-2104T>C (p.=) c.571+76T>C (p.=) c.835+76T>C (p.=) n.1231+76T>C | |
| 7 | g.5989724A>T | CA840179322 | PMS2 | c.1144+76T>A (p.=) c.739+76T>A (p.=) c.*543+76T>A (p.=) n.826+76T>A (p.=) n.804-6733T>A (p.=) n.1144+76T>A c.826+76T>A (p.=) n.63-6819T>A n.1226+76T>A c.1138+76T>A (p.=) c.211+76T>A (p.=) c.1189+76T>A (p.=) c.1034-2104T>A (p.=) c.989-2104T>A (p.=) c.584-2104T>A (p.=) c.571+76T>A (p.=) c.835+76T>A (p.=) n.1231+76T>A | |
| 7 | g.5989727T>C | CA1685235700 | PMS2 | c.1144+73A>G (p.=) c.739+73A>G (p.=) c.*543+73A>G (p.=) n.826+73A>G (p.=) n.804-6736A>G (p.=) n.1144+73A>G c.826+73A>G (p.=) n.63-6822A>G n.1226+73A>G c.1138+73A>G (p.=) c.211+73A>G (p.=) c.1189+73A>G (p.=) c.1034-2107A>G (p.=) c.989-2107A>G (p.=) c.584-2107A>G (p.=) c.571+73A>G (p.=) c.835+73A>G (p.=) n.1231+73A>G | |
| 7 | g.5989727T= | CA1685235698 | PMS2 | c.1144+73A= (p.=) c.739+73A= (p.=) c.*543+73A= (p.=) n.826+73A= (p.=) n.804-6736A= (p.=) n.1144+73A= c.826+73A= (p.=) n.63-6822A= n.1226+73A= c.1138+73A= (p.=) c.211+73A= (p.=) c.1189+73A= (p.=) c.1034-2107A= (p.=) c.989-2107A= (p.=) c.584-2107A= (p.=) c.571+73A= (p.=) c.835+73A= (p.=) n.1231+73A= | |
| 7 | g.5989728T>A | CA153230424 | PMS2 | c.1144+72A>T (p.=) c.739+72A>T (p.=) c.*543+72A>T (p.=) n.826+72A>T (p.=) n.804-6737A>T (p.=) n.1144+72A>T c.826+72A>T (p.=) n.63-6823A>T n.1226+72A>T c.1138+72A>T (p.=) c.211+72A>T (p.=) c.1189+72A>T (p.=) c.1034-2108A>T (p.=) c.989-2108A>T (p.=) c.584-2108A>T (p.=) c.571+72A>T (p.=) c.835+72A>T (p.=) n.1231+72A>T | dbSNP |
| 7 | g.5989728T= | CA1685235704 | PMS2 | c.1144+72A= (p.=) c.739+72A= (p.=) c.*543+72A= (p.=) n.826+72A= (p.=) n.804-6737A= (p.=) n.1144+72A= c.826+72A= (p.=) n.63-6823A= n.1226+72A= c.1138+72A= (p.=) c.211+72A= (p.=) c.1189+72A= (p.=) c.1034-2108A= (p.=) c.989-2108A= (p.=) c.584-2108A= (p.=) c.571+72A= (p.=) c.835+72A= (p.=) n.1231+72A= | |
| 7 | g.5989730A= | CA1685235706 | PMS2 | c.1144+70T= (p.=) c.739+70T= (p.=) c.*543+70T= (p.=) n.826+70T= (p.=) n.804-6739T= (p.=) n.1144+70T= c.826+70T= (p.=) n.63-6825T= n.1226+70T= c.1138+70T= (p.=) c.211+70T= (p.=) c.1189+70T= (p.=) c.1034-2110T= (p.=) c.989-2110T= (p.=) c.584-2110T= (p.=) c.571+70T= (p.=) c.835+70T= (p.=) n.1231+70T= | |
| 7 | g.5989730A>T | CA1685235709 | PMS2 | c.1144+70T>A (p.=) c.739+70T>A (p.=) c.*543+70T>A (p.=) n.826+70T>A (p.=) n.804-6739T>A (p.=) n.1144+70T>A c.826+70T>A (p.=) n.63-6825T>A n.1226+70T>A c.1138+70T>A (p.=) c.211+70T>A (p.=) c.1189+70T>A (p.=) c.1034-2110T>A (p.=) c.989-2110T>A (p.=) c.584-2110T>A (p.=) c.571+70T>A (p.=) c.835+70T>A (p.=) n.1231+70T>A | |
| 7 | g.5989741A= | CA1685235714 | PMS2 | c.1144+59T= (p.=) c.739+59T= (p.=) c.*543+59T= (p.=) n.826+59T= (p.=) n.804-6750T= (p.=) n.1144+59T= c.826+59T= (p.=) n.63-6836T= n.1226+59T= c.1138+59T= (p.=) c.211+59T= (p.=) c.1189+59T= (p.=) c.1034-2121T= (p.=) c.989-2121T= (p.=) c.584-2121T= (p.=) c.571+59T= (p.=) c.835+59T= (p.=) n.1231+59T= | |
| 7 | g.5989741A>G | CA1685235717 | PMS2 | c.1144+59T>C (p.=) c.739+59T>C (p.=) c.*543+59T>C (p.=) n.826+59T>C (p.=) n.804-6750T>C (p.=) n.1144+59T>C c.826+59T>C (p.=) n.63-6836T>C n.1226+59T>C c.1138+59T>C (p.=) c.211+59T>C (p.=) c.1189+59T>C (p.=) c.1034-2121T>C (p.=) c.989-2121T>C (p.=) c.584-2121T>C (p.=) c.571+59T>C (p.=) c.835+59T>C (p.=) n.1231+59T>C | |
| 7 | g.5989742T>G | CA840179324 | PMS2 | c.1144+58A>C (p.=) c.739+58A>C (p.=) c.*543+58A>C (p.=) n.826+58A>C (p.=) n.804-6751A>C (p.=) n.1144+58A>C c.826+58A>C (p.=) n.63-6837A>C n.1226+58A>C c.1138+58A>C (p.=) c.211+58A>C (p.=) c.1189+58A>C (p.=) c.1034-2122A>C (p.=) c.989-2122A>C (p.=) c.584-2122A>C (p.=) c.571+58A>C (p.=) c.835+58A>C (p.=) n.1231+58A>C | |
| 7 | g.5989742T= | CA1685235720 | PMS2 | c.1144+58A= (p.=) c.739+58A= (p.=) c.*543+58A= (p.=) n.826+58A= (p.=) n.804-6751A= (p.=) n.1144+58A= c.826+58A= (p.=) n.63-6837A= n.1226+58A= c.1138+58A= (p.=) c.211+58A= (p.=) c.1189+58A= (p.=) c.1034-2122A= (p.=) c.989-2122A= (p.=) c.584-2122A= (p.=) c.571+58A= (p.=) c.835+58A= (p.=) n.1231+58A= | |
| 7 | g.5989743A= | CA1685235721 | PMS2 | c.1144+57T= (p.=) c.739+57T= (p.=) c.*543+57T= (p.=) n.826+57T= (p.=) n.804-6752T= (p.=) n.1144+57T= c.826+57T= (p.=) n.63-6838T= n.1226+57T= c.1138+57T= (p.=) c.211+57T= (p.=) c.1189+57T= (p.=) c.1034-2123T= (p.=) c.989-2123T= (p.=) c.584-2123T= (p.=) c.571+57T= (p.=) c.835+57T= (p.=) n.1231+57T= | |
| 7 | g.5989743A>G | CA1097963974 | PMS2 | c.1144+57T>C (p.=) c.739+57T>C (p.=) c.*543+57T>C (p.=) n.826+57T>C (p.=) n.804-6752T>C (p.=) n.1144+57T>C c.826+57T>C (p.=) n.63-6838T>C n.1226+57T>C c.1138+57T>C (p.=) c.211+57T>C (p.=) c.1189+57T>C (p.=) c.1034-2123T>C (p.=) c.989-2123T>C (p.=) c.584-2123T>C (p.=) c.571+57T>C (p.=) c.835+57T>C (p.=) n.1231+57T>C | |
| 7 | g.5989747A= | CA1685235725 | PMS2 | c.1144+53T= (p.=) c.739+53T= (p.=) c.*543+53T= (p.=) n.826+53T= (p.=) n.804-6756T= (p.=) n.1144+53T= c.826+53T= (p.=) n.63-6842T= n.1226+53T= c.1138+53T= (p.=) c.211+53T= (p.=) c.1189+53T= (p.=) c.1034-2127T= (p.=) c.989-2127T= (p.=) c.584-2127T= (p.=) c.571+53T= (p.=) c.835+53T= (p.=) n.1231+53T= | |
| 7 | g.5989747A>C | CA1685235726 | PMS2 | c.1144+53T>G (p.=) c.739+53T>G (p.=) c.*543+53T>G (p.=) n.826+53T>G (p.=) n.804-6756T>G (p.=) n.1144+53T>G c.826+53T>G (p.=) n.63-6842T>G n.1226+53T>G c.1138+53T>G (p.=) c.211+53T>G (p.=) c.1189+53T>G (p.=) c.1034-2127T>G (p.=) c.989-2127T>G (p.=) c.584-2127T>G (p.=) c.571+53T>G (p.=) c.835+53T>G (p.=) n.1231+53T>G | |
| 7 | g.5989747A>G | CA840179327 | PMS2 | c.1144+53T>C (p.=) c.739+53T>C (p.=) c.*543+53T>C (p.=) n.826+53T>C (p.=) n.804-6756T>C (p.=) n.1144+53T>C c.826+53T>C (p.=) n.63-6842T>C n.1226+53T>C c.1138+53T>C (p.=) c.211+53T>C (p.=) c.1189+53T>C (p.=) c.1034-2127T>C (p.=) c.989-2127T>C (p.=) c.584-2127T>C (p.=) c.571+53T>C (p.=) c.835+53T>C (p.=) n.1231+53T>C | |
| 7 | g.5989749A= | CA1685235728 | PMS2 | c.1144+51T= (p.=) c.739+51T= (p.=) c.*543+51T= (p.=) n.826+51T= (p.=) n.804-6758T= (p.=) n.1144+51T= c.826+51T= (p.=) n.63-6844T= n.1226+51T= c.1138+51T= (p.=) c.211+51T= (p.=) c.1189+51T= (p.=) c.1034-2129T= (p.=) c.989-2129T= (p.=) c.584-2129T= (p.=) c.571+51T= (p.=) c.835+51T= (p.=) n.1231+51T= | |
| 7 | g.5989749A>G | CA572822663 | PMS2 | c.1144+51T>C (p.=) c.739+51T>C (p.=) c.*543+51T>C (p.=) n.826+51T>C (p.=) n.804-6758T>C (p.=) n.1144+51T>C c.826+51T>C (p.=) n.63-6844T>C n.1226+51T>C c.1138+51T>C (p.=) c.211+51T>C (p.=) c.1189+51T>C (p.=) c.1034-2129T>C (p.=) c.989-2129T>C (p.=) c.584-2129T>C (p.=) c.571+51T>C (p.=) c.835+51T>C (p.=) n.1231+51T>C | gnomAD |
| 7 | g.5989752C= | CA1685235732 | PMS2 | c.1144+48G= (p.=) c.739+48G= (p.=) c.*543+48G= (p.=) n.826+48G= (p.=) n.804-6761G= (p.=) n.1144+48G= c.826+48G= (p.=) n.63-6847G= n.1226+48G= c.1138+48G= (p.=) c.211+48G= (p.=) c.1189+48G= (p.=) c.1034-2132G= (p.=) c.989-2132G= (p.=) c.584-2132G= (p.=) c.571+48G= (p.=) c.835+48G= (p.=) n.1231+48G= | |
| 7 | g.5989752C>G | CA1097963975 | PMS2 | c.1144+48G>C (p.=) c.739+48G>C (p.=) c.*543+48G>C (p.=) n.826+48G>C (p.=) n.804-6761G>C (p.=) n.1144+48G>C c.826+48G>C (p.=) n.63-6847G>C n.1226+48G>C c.1138+48G>C (p.=) c.211+48G>C (p.=) c.1189+48G>C (p.=) c.1034-2132G>C (p.=) c.989-2132G>C (p.=) c.584-2132G>C (p.=) c.571+48G>C (p.=) c.835+48G>C (p.=) n.1231+48G>C | |
| 7 | g.5989753A= | CA1685235737 | PMS2 | c.1144+47T= (p.=) c.739+47T= (p.=) c.*543+47T= (p.=) n.826+47T= (p.=) n.804-6762T= (p.=) n.1144+47T= c.826+47T= (p.=) n.63-6848T= n.1226+47T= c.1138+47T= (p.=) c.211+47T= (p.=) c.1189+47T= (p.=) c.1034-2133T= (p.=) c.989-2133T= (p.=) c.584-2133T= (p.=) c.571+47T= (p.=) c.835+47T= (p.=) n.1231+47T= | |
| 7 | g.5989753A>C | CA453644033 | PMS2 | c.1144+47T>G (p.=) c.739+47T>G (p.=) c.*543+47T>G (p.=) n.826+47T>G (p.=) n.804-6762T>G (p.=) n.1144+47T>G c.826+47T>G (p.=) n.63-6848T>G n.1226+47T>G c.1138+47T>G (p.=) c.211+47T>G (p.=) c.1189+47T>G (p.=) c.1034-2133T>G (p.=) c.989-2133T>G (p.=) c.584-2133T>G (p.=) c.571+47T>G (p.=) c.835+47T>G (p.=) n.1231+47T>G | |
| 7 | g.5989753A>G | CA572822664 | PMS2 | c.1144+47T>C (p.=) c.739+47T>C (p.=) c.*543+47T>C (p.=) n.826+47T>C (p.=) n.804-6762T>C (p.=) n.1144+47T>C c.826+47T>C (p.=) n.63-6848T>C n.1226+47T>C c.1138+47T>C (p.=) c.211+47T>C (p.=) c.1189+47T>C (p.=) c.1034-2133T>C (p.=) c.989-2133T>C (p.=) c.584-2133T>C (p.=) c.571+47T>C (p.=) c.835+47T>C (p.=) n.1231+47T>C | gnomAD |
| 7 | g.5989760A= | CA1685235740 | PMS2 | c.1144+40T= (p.=) c.739+40T= (p.=) c.*543+40T= (p.=) n.826+40T= (p.=) n.804-6769T= (p.=) n.1144+40T= c.826+40T= (p.=) n.63-6855T= n.1226+40T= c.1138+40T= (p.=) c.211+40T= (p.=) c.1189+40T= (p.=) c.1034-2140T= (p.=) c.989-2140T= (p.=) c.584-2140T= (p.=) c.571+40T= (p.=) c.835+40T= (p.=) n.1231+40T= | |
| 7 | g.5989760A>G | CA453644034 | PMS2 | c.1144+40T>C (p.=) c.739+40T>C (p.=) c.*543+40T>C (p.=) n.826+40T>C (p.=) n.804-6769T>C (p.=) n.1144+40T>C c.826+40T>C (p.=) n.63-6855T>C n.1226+40T>C c.1138+40T>C (p.=) c.211+40T>C (p.=) c.1189+40T>C (p.=) c.1034-2140T>C (p.=) c.989-2140T>C (p.=) c.584-2140T>C (p.=) c.571+40T>C (p.=) c.835+40T>C (p.=) n.1231+40T>C |