Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.5982785T>CCA046899PMS2c.2174+39A>G (p.=)
c.1769+39A>G (p.=)
c.*1573+39A>G (p.=)
n.1856+39A>G (p.=)
n.971+39A>G (p.=)
n.1678+4302A>G
c.1856+39A>G (p.=)
n.2256+39A>G
c.2168+39A>G (p.=)
c.1241+39A>G (p.=)
c.2219+39A>G (p.=)
c.2063+39A>G (p.=)
c.2018+39A>G (p.=)
c.1613+39A>G (p.=)
c.1601+39A>G (p.=)
c.1865+39A>G (p.=)
n.2261+39A>G
dbSNP ExAC gnomAD
7g.5982785T=CA1685255540PMS2c.2174+39A= (p.=)
c.1769+39A= (p.=)
c.*1573+39A= (p.=)
n.1856+39A= (p.=)
n.971+39A= (p.=)
n.1678+4302A=
c.1856+39A= (p.=)
n.2256+39A=
c.2168+39A= (p.=)
c.1241+39A= (p.=)
c.2219+39A= (p.=)
c.2063+39A= (p.=)
c.2018+39A= (p.=)
c.1613+39A= (p.=)
c.1601+39A= (p.=)
c.1865+39A= (p.=)
n.2261+39A=
7g.5982787G>ACA572545056PMS2c.2174+37C>T (p.=)
c.1769+37C>T (p.=)
c.*1573+37C>T (p.=)
n.1856+37C>T (p.=)
n.971+37C>T (p.=)
n.1678+4300C>T
c.1856+37C>T (p.=)
n.2256+37C>T
c.2168+37C>T (p.=)
c.1241+37C>T (p.=)
c.2219+37C>T (p.=)
c.2063+37C>T (p.=)
c.2018+37C>T (p.=)
c.1613+37C>T (p.=)
c.1601+37C>T (p.=)
c.1865+37C>T (p.=)
n.2261+37C>T
gnomAD
7g.5982787G=CA1685255543PMS2c.2174+37C= (p.=)
c.1769+37C= (p.=)
c.*1573+37C= (p.=)
n.1856+37C= (p.=)
n.971+37C= (p.=)
n.1678+4300C=
c.1856+37C= (p.=)
n.2256+37C=
c.2168+37C= (p.=)
c.1241+37C= (p.=)
c.2219+37C= (p.=)
c.2063+37C= (p.=)
c.2018+37C= (p.=)
c.1613+37C= (p.=)
c.1601+37C= (p.=)
c.1865+37C= (p.=)
n.2261+37C=
7g.5982791G>ACA046892PMS2c.2174+33C>T (p.=)
c.1769+33C>T (p.=)
c.*1573+33C>T (p.=)
n.1856+33C>T (p.=)
n.971+33C>T (p.=)
n.1678+4296C>T
c.1856+33C>T (p.=)
n.2256+33C>T
c.2168+33C>T (p.=)
c.1241+33C>T (p.=)
c.2219+33C>T (p.=)
c.2063+33C>T (p.=)
c.2018+33C>T (p.=)
c.1613+33C>T (p.=)
c.1601+33C>T (p.=)
c.1865+33C>T (p.=)
n.2261+33C>T
dbSNP ExAC gnomAD
7g.5982791G=CA1685255546PMS2c.2174+33C= (p.=)
c.1769+33C= (p.=)
c.*1573+33C= (p.=)
n.1856+33C= (p.=)
n.971+33C= (p.=)
n.1678+4296C=
c.1856+33C= (p.=)
n.2256+33C=
c.2168+33C= (p.=)
c.1241+33C= (p.=)
c.2219+33C= (p.=)
c.2063+33C= (p.=)
c.2018+33C= (p.=)
c.1613+33C= (p.=)
c.1601+33C= (p.=)
c.1865+33C= (p.=)
n.2261+33C=
7g.5982793G>ACA046878PMS2c.2174+31C>T (p.=)
c.1769+31C>T (p.=)
c.*1573+31C>T (p.=)
n.1856+31C>T (p.=)
n.971+31C>T (p.=)
n.1678+4294C>T
c.1856+31C>T (p.=)
n.2256+31C>T
c.2168+31C>T (p.=)
c.1241+31C>T (p.=)
c.2219+31C>T (p.=)
c.2063+31C>T (p.=)
c.2018+31C>T (p.=)
c.1613+31C>T (p.=)
c.1601+31C>T (p.=)
c.1865+31C>T (p.=)
n.2261+31C>T
dbSNP ExAC
7g.5982793G=CA1685255549PMS2c.2174+31C= (p.=)
c.1769+31C= (p.=)
c.*1573+31C= (p.=)
n.1856+31C= (p.=)
n.971+31C= (p.=)
n.1678+4294C=
c.1856+31C= (p.=)
n.2256+31C=
c.2168+31C= (p.=)
c.1241+31C= (p.=)
c.2219+31C= (p.=)
c.2063+31C= (p.=)
c.2018+31C= (p.=)
c.1613+31C= (p.=)
c.1601+31C= (p.=)
c.1865+31C= (p.=)
n.2261+31C=
7g.5982796T>ACA572545057PMS2c.2174+28A>T (p.=)
c.1769+28A>T (p.=)
c.*1573+28A>T (p.=)
n.1856+28A>T (p.=)
n.971+28A>T (p.=)
n.1678+4291A>T
c.1856+28A>T (p.=)
n.2256+28A>T
c.2168+28A>T (p.=)
c.1241+28A>T (p.=)
c.2219+28A>T (p.=)
c.2063+28A>T (p.=)
c.2018+28A>T (p.=)
c.1613+28A>T (p.=)
c.1601+28A>T (p.=)
c.1865+28A>T (p.=)
n.2261+28A>T
gnomAD
7g.5982796T=CA1685255551PMS2c.2174+28A= (p.=)
c.1769+28A= (p.=)
c.*1573+28A= (p.=)
n.1856+28A= (p.=)
n.971+28A= (p.=)
n.1678+4291A=
c.1856+28A= (p.=)
n.2256+28A=
c.2168+28A= (p.=)
c.1241+28A= (p.=)
c.2219+28A= (p.=)
c.2063+28A= (p.=)
c.2018+28A= (p.=)
c.1613+28A= (p.=)
c.1601+28A= (p.=)
c.1865+28A= (p.=)
n.2261+28A=
7g.5982798T>GCA572545058PMS2c.2174+26A>C (p.=)
c.1769+26A>C (p.=)
c.*1573+26A>C (p.=)
n.1856+26A>C (p.=)
n.971+26A>C (p.=)
n.1678+4289A>C
c.1856+26A>C (p.=)
n.2256+26A>C
c.2168+26A>C (p.=)
c.1241+26A>C (p.=)
c.2219+26A>C (p.=)
c.2063+26A>C (p.=)
c.2018+26A>C (p.=)
c.1613+26A>C (p.=)
c.1601+26A>C (p.=)
c.1865+26A>C (p.=)
n.2261+26A>C
gnomAD
7g.5982798T=CA1685255552PMS2c.2174+26A= (p.=)
c.1769+26A= (p.=)
c.*1573+26A= (p.=)
n.1856+26A= (p.=)
n.971+26A= (p.=)
n.1678+4289A=
c.1856+26A= (p.=)
n.2256+26A=
c.2168+26A= (p.=)
c.1241+26A= (p.=)
c.2219+26A= (p.=)
c.2063+26A= (p.=)
c.2018+26A= (p.=)
c.1613+26A= (p.=)
c.1601+26A= (p.=)
c.1865+26A= (p.=)
n.2261+26A=
7g.5982799G>CCA572545059PMS2c.2174+25C>G (p.=)
c.1769+25C>G (p.=)
c.*1573+25C>G (p.=)
n.1856+25C>G (p.=)
n.971+25C>G (p.=)
n.1678+4288C>G
c.1856+25C>G (p.=)
n.2256+25C>G
c.2168+25C>G (p.=)
c.1241+25C>G (p.=)
c.2219+25C>G (p.=)
c.2063+25C>G (p.=)
c.2018+25C>G (p.=)
c.1613+25C>G (p.=)
c.1601+25C>G (p.=)
c.1865+25C>G (p.=)
n.2261+25C>G
gnomAD
7g.5982799G=CA1685255554PMS2c.2174+25C= (p.=)
c.1769+25C= (p.=)
c.*1573+25C= (p.=)
n.1856+25C= (p.=)
n.971+25C= (p.=)
n.1678+4288C=
c.1856+25C= (p.=)
n.2256+25C=
c.2168+25C= (p.=)
c.1241+25C= (p.=)
c.2219+25C= (p.=)
c.2063+25C= (p.=)
c.2018+25C= (p.=)
c.1613+25C= (p.=)
c.1601+25C= (p.=)
c.1865+25C= (p.=)
n.2261+25C=
7g.5982801G>ACA572545060PMS2c.2174+23C>T (p.=)
c.1769+23C>T (p.=)
c.*1573+23C>T (p.=)
n.1856+23C>T (p.=)
n.971+23C>T (p.=)
n.1678+4286C>T
c.1856+23C>T (p.=)
n.2256+23C>T
c.2168+23C>T (p.=)
c.1241+23C>T (p.=)
c.2219+23C>T (p.=)
c.2063+23C>T (p.=)
c.2018+23C>T (p.=)
c.1613+23C>T (p.=)
c.1601+23C>T (p.=)
c.1865+23C>T (p.=)
n.2261+23C>T
gnomAD
7g.5982801G=CA1685255557PMS2c.2174+23C= (p.=)
c.1769+23C= (p.=)
c.*1573+23C= (p.=)
n.1856+23C= (p.=)
n.971+23C= (p.=)
n.1678+4286C=
c.1856+23C= (p.=)
n.2256+23C=
c.2168+23C= (p.=)
c.1241+23C= (p.=)
c.2219+23C= (p.=)
c.2063+23C= (p.=)
c.2018+23C= (p.=)
c.1613+23C= (p.=)
c.1601+23C= (p.=)
c.1865+23C= (p.=)
n.2261+23C=
7g.5982803A=CA1685255559PMS2c.2174+21T= (p.=)
c.1769+21T= (p.=)
c.*1573+21T= (p.=)
n.1856+21T= (p.=)
n.971+21T= (p.=)
n.1678+4284T=
c.1856+21T= (p.=)
n.2256+21T=
c.2168+21T= (p.=)
c.1241+21T= (p.=)
c.2219+21T= (p.=)
c.2063+21T= (p.=)
c.2018+21T= (p.=)
c.1613+21T= (p.=)
c.1601+21T= (p.=)
c.1865+21T= (p.=)
n.2261+21T=
7g.5982803A>GCA1685255560PMS2c.2174+21T>C (p.=)
c.1769+21T>C (p.=)
c.*1573+21T>C (p.=)
n.1856+21T>C (p.=)
n.971+21T>C (p.=)
n.1678+4284T>C
c.1856+21T>C (p.=)
n.2256+21T>C
c.2168+21T>C (p.=)
c.1241+21T>C (p.=)
c.2219+21T>C (p.=)
c.2063+21T>C (p.=)
c.2018+21T>C (p.=)
c.1613+21T>C (p.=)
c.1601+21T>C (p.=)
c.1865+21T>C (p.=)
n.2261+21T>C
7g.5982805G>ACA572545061PMS2c.2174+19C>T (p.=)
c.1769+19C>T (p.=)
c.*1573+19C>T (p.=)
n.1856+19C>T (p.=)
n.971+19C>T (p.=)
n.1678+4282C>T
c.1856+19C>T (p.=)
n.2256+19C>T
c.2168+19C>T (p.=)
c.1241+19C>T (p.=)
c.2219+19C>T (p.=)
c.2063+19C>T (p.=)
c.2018+19C>T (p.=)
c.1613+19C>T (p.=)
c.1601+19C>T (p.=)
c.1865+19C>T (p.=)
n.2261+19C>T
gnomAD
7g.5982805G=CA1685255563PMS2c.2174+19C= (p.=)
c.1769+19C= (p.=)
c.*1573+19C= (p.=)
n.1856+19C= (p.=)
n.971+19C= (p.=)
n.1678+4282C=
c.1856+19C= (p.=)
n.2256+19C=
c.2168+19C= (p.=)
c.1241+19C= (p.=)
c.2219+19C= (p.=)
c.2063+19C= (p.=)
c.2018+19C= (p.=)
c.1613+19C= (p.=)
c.1601+19C= (p.=)
c.1865+19C= (p.=)
n.2261+19C=
7g.5982806A=CA1685255566PMS2c.2174+18T= (p.=)
c.1769+18T= (p.=)
c.*1573+18T= (p.=)
n.1856+18T= (p.=)
n.971+18T= (p.=)
n.1678+4281T=
c.1856+18T= (p.=)
n.2256+18T=
c.2168+18T= (p.=)
c.1241+18T= (p.=)
c.2219+18T= (p.=)
c.2063+18T= (p.=)
c.2018+18T= (p.=)
c.1613+18T= (p.=)
c.1601+18T= (p.=)
c.1865+18T= (p.=)
n.2261+18T=
7g.5982806A>CCA046841PMS2c.2174+18T>G (p.=)
c.1769+18T>G (p.=)
c.*1573+18T>G (p.=)
n.1856+18T>G (p.=)
n.971+18T>G (p.=)
n.1678+4281T>G
c.1856+18T>G (p.=)
n.2256+18T>G
c.2168+18T>G (p.=)
c.1241+18T>G (p.=)
c.2219+18T>G (p.=)
c.2063+18T>G (p.=)
c.2018+18T>G (p.=)
c.1613+18T>G (p.=)
c.1601+18T>G (p.=)
c.1865+18T>G (p.=)
n.2261+18T>G
dbSNP ExAC gnomAD
7g.5982809A=CA1685255569PMS2c.2174+15T= (p.=)
c.1769+15T= (p.=)
c.*1573+15T= (p.=)
n.1856+15T= (p.=)
n.971+15T= (p.=)
n.1678+4278T=
c.1856+15T= (p.=)
n.2256+15T=
c.2168+15T= (p.=)
c.1241+15T= (p.=)
c.2219+15T= (p.=)
c.2063+15T= (p.=)
c.2018+15T= (p.=)
c.1613+15T= (p.=)
c.1601+15T= (p.=)
c.1865+15T= (p.=)
n.2261+15T=
7g.5982809A>CCA046831PMS2c.2174+15T>G (p.=)
c.1769+15T>G (p.=)
c.*1573+15T>G (p.=)
n.1856+15T>G (p.=)
n.971+15T>G (p.=)
n.1678+4278T>G
c.1856+15T>G (p.=)
n.2256+15T>G
c.2168+15T>G (p.=)
c.1241+15T>G (p.=)
c.2219+15T>G (p.=)
c.2063+15T>G (p.=)
c.2018+15T>G (p.=)
c.1613+15T>G (p.=)
c.1601+15T>G (p.=)
c.1865+15T>G (p.=)
n.2261+15T>G
dbSNP ExAC gnomAD
7g.5982811T>CCA046819PMS2c.2174+13A>G (p.=)
c.1769+13A>G (p.=)
c.*1573+13A>G (p.=)
n.1856+13A>G (p.=)
n.971+13A>G (p.=)
n.1678+4276A>G
c.1856+13A>G (p.=)
n.2256+13A>G
c.2168+13A>G (p.=)
c.1241+13A>G (p.=)
c.2219+13A>G (p.=)
c.2063+13A>G (p.=)
c.2018+13A>G (p.=)
c.1613+13A>G (p.=)
c.1601+13A>G (p.=)
c.1865+13A>G (p.=)
n.2261+13A>G
dbSNP ExAC gnomAD
7g.5982811T=CA1685255571PMS2c.2174+13A= (p.=)
c.1769+13A= (p.=)
c.*1573+13A= (p.=)
n.1856+13A= (p.=)
n.971+13A= (p.=)
n.1678+4276A=
c.1856+13A= (p.=)
n.2256+13A=
c.2168+13A= (p.=)
c.1241+13A= (p.=)
c.2219+13A= (p.=)
c.2063+13A= (p.=)
c.2018+13A= (p.=)
c.1613+13A= (p.=)
c.1601+13A= (p.=)
c.1865+13A= (p.=)
n.2261+13A=
7g.5982812A=CA1685255572PMS2c.2174+12T= (p.=)
c.1769+12T= (p.=)
c.*1573+12T= (p.=)
n.1856+12T= (p.=)
n.971+12T= (p.=)
n.1678+4275T=
c.1856+12T= (p.=)
n.2256+12T=
c.2168+12T= (p.=)
c.1241+12T= (p.=)
c.2219+12T= (p.=)
c.2063+12T= (p.=)
c.2018+12T= (p.=)
c.1613+12T= (p.=)
c.1601+12T= (p.=)
c.1865+12T= (p.=)
n.2261+12T=
7g.5982812A>GCA840185286PMS2c.2174+12T>C (p.=)
c.1769+12T>C (p.=)
c.*1573+12T>C (p.=)
n.1856+12T>C (p.=)
n.971+12T>C (p.=)
n.1678+4275T>C
c.1856+12T>C (p.=)
n.2256+12T>C
c.2168+12T>C (p.=)
c.1241+12T>C (p.=)
c.2219+12T>C (p.=)
c.2063+12T>C (p.=)
c.2018+12T>C (p.=)
c.1613+12T>C (p.=)
c.1601+12T>C (p.=)
c.1865+12T>C (p.=)
n.2261+12T>C
7g.5982815C>ACA1139659547PMS2c.2174+9G>T (p.=)
c.1769+9G>T (p.=)
c.*1573+9G>T (p.=)
n.1856+9G>T (p.=)
n.971+9G>T (p.=)
n.1678+4272G>T
c.1856+9G>T (p.=)
n.2256+9G>T
c.2168+9G>T (p.=)
c.1241+9G>T (p.=)
c.2219+9G>T (p.=)
c.2063+9G>T (p.=)
c.2018+9G>T (p.=)
c.1613+9G>T (p.=)
c.1601+9G>T (p.=)
c.1865+9G>T (p.=)
n.2261+9G>T
ClinVar
7g.5982815C=CA1685255576PMS2c.2174+9G= (p.=)
c.1769+9G= (p.=)
c.*1573+9G= (p.=)
n.1856+9G= (p.=)
n.971+9G= (p.=)
n.1678+4272G=
c.1856+9G= (p.=)
n.2256+9G=
c.2168+9G= (p.=)
c.1241+9G= (p.=)
c.2219+9G= (p.=)
c.2063+9G= (p.=)
c.2018+9G= (p.=)
c.1613+9G= (p.=)
c.1601+9G= (p.=)
c.1865+9G= (p.=)
n.2261+9G=
7g.5982816A=CA1685255580PMS2c.2174+8T= (p.=)
c.1769+8T= (p.=)
c.*1573+8T= (p.=)
n.1856+8T= (p.=)
n.971+8T= (p.=)
n.1678+4271T=
c.1856+8T= (p.=)
n.2256+8T=
c.2168+8T= (p.=)
c.1241+8T= (p.=)
c.2219+8T= (p.=)
c.2063+8T= (p.=)
c.2018+8T= (p.=)
c.1613+8T= (p.=)
c.1601+8T= (p.=)
c.1865+8T= (p.=)
n.2261+8T=
7g.5982816A>CCA915944859PMS2c.2174+8T>G (p.=)
c.1769+8T>G (p.=)
c.*1573+8T>G (p.=)
n.1856+8T>G (p.=)
n.971+8T>G (p.=)
n.1678+4271T>G
c.1856+8T>G (p.=)
n.2256+8T>G
c.2168+8T>G (p.=)
c.1241+8T>G (p.=)
c.2219+8T>G (p.=)
c.2063+8T>G (p.=)
c.2018+8T>G (p.=)
c.1613+8T>G (p.=)
c.1601+8T>G (p.=)
c.1865+8T>G (p.=)
n.2261+8T>G
ClinVar
7g.5982818A=CA1685255585PMS2c.2174+6T= (p.=)
c.1769+6T= (p.=)
c.*1573+6T= (p.=)
n.1856+6T= (p.=)
n.971+6T= (p.=)
n.1678+4269T=
c.1856+6T= (p.=)
n.2256+6T=
c.2168+6T= (p.=)
c.1241+6T= (p.=)
c.2219+6T= (p.=)
c.2063+6T= (p.=)
c.2018+6T= (p.=)
c.1613+6T= (p.=)
c.1601+6T= (p.=)
c.1865+6T= (p.=)
n.2261+6T=
7g.5982818A>GCA010975PMS2c.2174+6T>C (p.=)
c.1769+6T>C (p.=)
c.*1573+6T>C (p.=)
n.1856+6T>C (p.=)
n.971+6T>C (p.=)
n.1678+4269T>C
c.1856+6T>C (p.=)
n.2256+6T>C
c.2168+6T>C (p.=)
c.1241+6T>C (p.=)
c.2219+6T>C (p.=)
c.2063+6T>C (p.=)
c.2018+6T>C (p.=)
c.1613+6T>C (p.=)
c.1601+6T>C (p.=)
c.1865+6T>C (p.=)
n.2261+6T>C
ClinVar dbSNP ExAC gnomAD
7g.5982821C=CA1685255590PMS2c.2174+3G= (p.=)
c.1769+3G= (p.=)
c.*1573+3G= (p.=)
n.1856+3G= (p.=)
n.971+3G= (p.=)
n.1678+4266G=
c.1856+3G= (p.=)
n.2256+3G=
c.2168+3G= (p.=)
c.1241+3G= (p.=)
c.2219+3G= (p.=)
c.2063+3G= (p.=)
c.2018+3G= (p.=)
c.1613+3G= (p.=)
c.1601+3G= (p.=)
c.1865+3G= (p.=)
n.2261+3G=
7g.5982821C>GCA572545062PMS2c.2174+3G>C (p.=)
c.1769+3G>C (p.=)
c.*1573+3G>C (p.=)
n.1856+3G>C (p.=)
n.971+3G>C (p.=)
n.1678+4266G>C
c.1856+3G>C (p.=)
n.2256+3G>C
c.2168+3G>C (p.=)
c.1241+3G>C (p.=)
c.2219+3G>C (p.=)
c.2063+3G>C (p.=)
c.2018+3G>C (p.=)
c.1613+3G>C (p.=)
c.1601+3G>C (p.=)
c.1865+3G>C (p.=)
n.2261+3G>C
ClinVar gnomAD
7g.5982821C>TCA658655963PMS2c.2174+3G>A (p.=)
c.1769+3G>A (p.=)
c.*1573+3G>A (p.=)
n.1856+3G>A (p.=)
n.971+3G>A (p.=)
n.1678+4266G>A
c.1856+3G>A (p.=)
n.2256+3G>A
c.2168+3G>A (p.=)
c.1241+3G>A (p.=)
c.2219+3G>A (p.=)
c.2063+3G>A (p.=)
c.2018+3G>A (p.=)
c.1613+3G>A (p.=)
c.1601+3G>A (p.=)
c.1865+3G>A (p.=)
n.2261+3G>A
ClinVar
7g.5982822A>CCA366737832PMS2c.2174+2T>G (p.=)
c.1769+2T>G (p.=)
c.*1573+2T>G (p.=)
n.1856+2T>G (p.=)
n.971+2T>G (p.=)
n.1678+4265T>G
c.1856+2T>G (p.=)
n.2256+2T>G
c.2168+2T>G (p.=)
c.1241+2T>G (p.=)
c.2219+2T>G (p.=)
c.2063+2T>G (p.=)
c.2018+2T>G (p.=)
c.1613+2T>G (p.=)
c.1601+2T>G (p.=)
c.1865+2T>G (p.=)
n.2261+2T>G
7g.5982822A>GCA366737833PMS2c.2174+2T>C (p.=)
c.1769+2T>C (p.=)
c.*1573+2T>C (p.=)
n.1856+2T>C (p.=)
n.971+2T>C (p.=)
n.1678+4265T>C
c.1856+2T>C (p.=)
n.2256+2T>C
c.2168+2T>C (p.=)
c.1241+2T>C (p.=)
c.2219+2T>C (p.=)
c.2063+2T>C (p.=)
c.2018+2T>C (p.=)
c.1613+2T>C (p.=)
c.1601+2T>C (p.=)
c.1865+2T>C (p.=)
n.2261+2T>C
7g.5982822A>TCA366737834PMS2c.2174+2T>A (p.=)
c.1769+2T>A (p.=)
c.*1573+2T>A (p.=)
n.1856+2T>A (p.=)
n.971+2T>A (p.=)
n.1678+4265T>A
c.1856+2T>A (p.=)
n.2256+2T>A
c.2168+2T>A (p.=)
c.1241+2T>A (p.=)
c.2219+2T>A (p.=)
c.2063+2T>A (p.=)
c.2018+2T>A (p.=)
c.1613+2T>A (p.=)
c.1601+2T>A (p.=)
c.1865+2T>A (p.=)
n.2261+2T>A
7g.5982823C>ACA046863PMS2c.2174+1G>T (p.=)
c.1769+1G>T (p.=)
c.*1573+1G>T (p.=)
n.1856+1G>T (p.=)
n.971+1G>T (p.=)
n.1678+4264G>T
c.1856+1G>T (p.=)
n.2256+1G>T
c.2168+1G>T (p.=)
c.1241+1G>T (p.=)
c.2219+1G>T (p.=)
c.2063+1G>T (p.=)
c.2018+1G>T (p.=)
c.1613+1G>T (p.=)
c.1601+1G>T (p.=)
c.1865+1G>T (p.=)
n.2261+1G>T
dbSNP ExAC gnomAD
7g.5982823C=CA1685255606PMS2c.2174+1G= (p.=)
c.1769+1G= (p.=)
c.*1573+1G= (p.=)
n.1856+1G= (p.=)
n.971+1G= (p.=)
n.1678+4264G=
c.1856+1G= (p.=)
n.2256+1G=
c.2168+1G= (p.=)
c.1241+1G= (p.=)
c.2219+1G= (p.=)
c.2063+1G= (p.=)
c.2018+1G= (p.=)
c.1613+1G= (p.=)
c.1601+1G= (p.=)
c.1865+1G= (p.=)
n.2261+1G=
7g.5982823C>GCA153224679PMS2c.2174+1G>C (p.=)
c.1769+1G>C (p.=)
c.*1573+1G>C (p.=)
n.1856+1G>C (p.=)
n.971+1G>C (p.=)
n.1678+4264G>C
c.1856+1G>C (p.=)
n.2256+1G>C
c.2168+1G>C (p.=)
c.1241+1G>C (p.=)
c.2219+1G>C (p.=)
c.2063+1G>C (p.=)
c.2018+1G>C (p.=)
c.1613+1G>C (p.=)
c.1601+1G>C (p.=)
c.1865+1G>C (p.=)
n.2261+1G>C
ClinVar dbSNP
7g.5982823C>TCA010965PMS2c.2174+1G>A (p.=)
c.1769+1G>A (p.=)
c.*1573+1G>A (p.=)
n.1856+1G>A (p.=)
n.971+1G>A (p.=)
n.1678+4264G>A
c.1856+1G>A (p.=)
n.2256+1G>A
c.2168+1G>A (p.=)
c.1241+1G>A (p.=)
c.2219+1G>A (p.=)
c.2063+1G>A (p.=)
c.2018+1G>A (p.=)
c.1613+1G>A (p.=)
c.1601+1G>A (p.=)
c.1865+1G>A (p.=)
n.2261+1G>A
ClinVar dbSNP ExAC gnomAD COSMIC
7g.5982824G>ACA010984PMS2c.2174C>T (p.Ala725Val)
c.1769C>T (p.Ala590Val)
c.*1573C>T (p.=)
n.1856C>T (p.Ala619Val)
n.971C>T (p.Ala324Val)
n.1678+4263C>T
c.1856C>T (p.Ala619Val)
n.2256C>T
c.2168C>T (p.Ala723Val)
c.1241C>T (p.Ala414Val)
c.2219C>T (p.Ala740Val)
c.2063C>T (p.Ala688Val)
c.2018C>T (p.Ala673Val)
c.1613C>T (p.Ala538Val)
c.1601C>T (p.Ala534Val)
c.1865C>T (p.Ala622Val)
n.2261C>T
ClinVar dbSNP ExAC gnomAD
7g.5982824G>CCA366737835PMS2c.2174C>G (p.Ala725Gly)
c.1769C>G (p.Ala590Gly)
c.*1573C>G (p.=)
n.1856C>G (p.Ala619Gly)
n.971C>G (p.Ala324Gly)
n.1678+4263C>G
c.1856C>G (p.Ala619Gly)
n.2256C>G
c.2168C>G (p.Ala723Gly)
c.1241C>G (p.Ala414Gly)
c.2219C>G (p.Ala740Gly)
c.2063C>G (p.Ala688Gly)
c.2018C>G (p.Ala673Gly)
c.1613C>G (p.Ala538Gly)
c.1601C>G (p.Ala534Gly)
c.1865C>G (p.Ala622Gly)
n.2261C>G
7g.5982824G=CA1685255617PMS2c.2174C= (p.Ala725=)
c.1769C= (p.Ala590=)
c.*1573C= (p.=)
n.1856C= (p.Ala619=)
n.971C= (p.Ala324=)
n.1678+4263C=
c.1856C= (p.Ala619=)
n.2256C=
c.2168C= (p.Ala723=)
c.1241C= (p.Ala414=)
c.2219C= (p.Ala740=)
c.2063C= (p.Ala688=)
c.2018C= (p.Ala673=)
c.1613C= (p.Ala538=)
c.1601C= (p.Ala534=)
c.1865C= (p.Ala622=)
n.2261C=
7g.5982824G>TCA366737836PMS2c.2174C>A (p.Ala725Glu)
c.1769C>A (p.Ala590Glu)
c.*1573C>A (p.=)
n.1856C>A (p.Ala619Glu)
n.971C>A (p.Ala324Glu)
n.1678+4263C>A
c.1856C>A (p.Ala619Glu)
n.2256C>A
c.2168C>A (p.Ala723Glu)
c.1241C>A (p.Ala414Glu)
c.2219C>A (p.Ala740Glu)
c.2063C>A (p.Ala688Glu)
c.2018C>A (p.Ala673Glu)
c.1613C>A (p.Ala538Glu)
c.1601C>A (p.Ala534Glu)
c.1865C>A (p.Ala622Glu)
n.2261C>A
ClinVar gnomAD
7g.5982825C>ACA366737839PMS2c.2173G>T (p.Ala725Ser)
c.1768G>T (p.Ala590Ser)
c.*1572G>T (p.=)
n.1855G>T (p.Ala619Ser)
n.970G>T (p.Ala324Ser)
n.1678+4262G>T
c.1855G>T (p.Ala619Ser)
n.2255G>T
c.2167G>T (p.Ala723Ser)
c.1240G>T (p.Ala414Ser)
c.2218G>T (p.Ala740Ser)
c.2062G>T (p.Ala688Ser)
c.2017G>T (p.Ala673Ser)
c.1612G>T (p.Ala538Ser)
c.1600G>T (p.Ala534Ser)
c.1864G>T (p.Ala622Ser)
n.2260G>T
7g.5982825C=CA1685255626PMS2c.2173G= (p.Ala725=)
c.1768G= (p.Ala590=)
c.*1572G= (p.=)
n.1855G= (p.Ala619=)
n.970G= (p.Ala324=)
n.1678+4262G=
c.1855G= (p.Ala619=)
n.2255G=
c.2167G= (p.Ala723=)
c.1240G= (p.Ala414=)
c.2218G= (p.Ala740=)
c.2062G= (p.Ala688=)
c.2017G= (p.Ala673=)
c.1612G= (p.Ala538=)
c.1600G= (p.Ala534=)
c.1864G= (p.Ala622=)
n.2260G=

Number of alleles fetched