Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189813819G>ACA11093319PMS1c.419-4198G>A (p.=)
c.316-4198G>A (p.=)
n.505-4198G>A
n.419-4198G>A
c.236-4198G>A (p.=)
c.-110-4198G>A (p.=)
c.133-4198G>A (p.=)
n.1045-4198G>A
c.-111+1184G>A (p.=)
n.583-4198G>A
n.674-4198G>A
n.679-4198G>A
n.577-4198G>A
n.680-4198G>A
dbSNP gnomAD
2g.189813826A>GCA62618777PMS1c.419-4191A>G (p.=)
c.316-4191A>G (p.=)
n.505-4191A>G
n.419-4191A>G
c.236-4191A>G (p.=)
c.-110-4191A>G (p.=)
c.133-4191A>G (p.=)
n.1045-4191A>G
c.-111+1191A>G (p.=)
n.583-4191A>G
n.674-4191A>G
n.679-4191A>G
n.577-4191A>G
n.680-4191A>G
dbSNP
2g.189813829A>GCA62618778PMS1c.419-4188A>G (p.=)
c.316-4188A>G (p.=)
n.505-4188A>G
n.419-4188A>G
c.236-4188A>G (p.=)
c.-110-4188A>G (p.=)
c.133-4188A>G (p.=)
n.1045-4188A>G
c.-111+1194A>G (p.=)
n.583-4188A>G
n.674-4188A>G
n.679-4188A>G
n.577-4188A>G
n.680-4188A>G
dbSNP gnomAD
2g.189813831A>GCA762337209PMS1c.419-4186A>G (p.=)
c.316-4186A>G (p.=)
n.505-4186A>G
n.419-4186A>G
c.236-4186A>G (p.=)
c.-110-4186A>G (p.=)
c.133-4186A>G (p.=)
n.1045-4186A>G
c.-111+1196A>G (p.=)
n.583-4186A>G
n.674-4186A>G
n.679-4186A>G
n.577-4186A>G
n.680-4186A>G
2g.189813845T>ACA538459323PMS1c.419-4172T>A (p.=)
c.316-4172T>A (p.=)
n.505-4172T>A
n.419-4172T>A
c.236-4172T>A (p.=)
c.-110-4172T>A (p.=)
c.133-4172T>A (p.=)
n.1045-4172T>A
c.-111+1210T>A (p.=)
n.583-4172T>A
n.674-4172T>A
n.679-4172T>A
n.577-4172T>A
n.680-4172T>A
gnomAD
2g.189813845T>GCA762337212PMS1c.419-4172T>G (p.=)
c.316-4172T>G (p.=)
n.505-4172T>G
n.419-4172T>G
c.236-4172T>G (p.=)
c.-110-4172T>G (p.=)
c.133-4172T>G (p.=)
n.1045-4172T>G
c.-111+1210T>G (p.=)
n.583-4172T>G
n.674-4172T>G
n.679-4172T>G
n.577-4172T>G
n.680-4172T>G
2g.189813846G>ACA62618780PMS1c.419-4171G>A (p.=)
c.316-4171G>A (p.=)
n.505-4171G>A
n.419-4171G>A
c.236-4171G>A (p.=)
c.-110-4171G>A (p.=)
c.133-4171G>A (p.=)
n.1045-4171G>A
c.-111+1211G>A (p.=)
n.583-4171G>A
n.674-4171G>A
n.679-4171G>A
n.577-4171G>A
n.680-4171G>A
dbSNP gnomAD
2g.189813853dupCA762337218PMS1c.419-4164dup (p.=)
c.316-4164dup (p.=)
n.505-4164dup
n.419-4164dup
c.236-4164dup (p.=)
c.-110-4164dup (p.=)
c.133-4164dup (p.=)
n.1045-4164dup
c.-111+1218dup (p.=)
n.583-4164dup
n.674-4164dup
n.679-4164dup
n.577-4164dup
n.680-4164dup
dbSNP
2g.189813849T>GCA1040461051PMS1c.419-4168T>G (p.=)
c.316-4168T>G (p.=)
n.505-4168T>G
n.419-4168T>G
c.236-4168T>G (p.=)
c.-110-4168T>G (p.=)
c.133-4168T>G (p.=)
n.1045-4168T>G
c.-111+1214T>G (p.=)
n.583-4168T>G
n.674-4168T>G
n.679-4168T>G
n.577-4168T>G
n.680-4168T>G
2g.189813869A>GCA1040461053PMS1c.419-4148A>G (p.=)
c.316-4148A>G (p.=)
n.505-4148A>G
n.419-4148A>G
c.236-4148A>G (p.=)
c.-110-4148A>G (p.=)
c.133-4148A>G (p.=)
n.1045-4148A>G
c.-111+1234A>G (p.=)
n.583-4148A>G
n.674-4148A>G
n.679-4148A>G
n.577-4148A>G
n.680-4148A>G
2g.189813872A>CCA62618785PMS1c.419-4145A>C (p.=)
c.316-4145A>C (p.=)
n.505-4145A>C
n.419-4145A>C
c.236-4145A>C (p.=)
c.-110-4145A>C (p.=)
c.133-4145A>C (p.=)
n.1045-4145A>C
c.-111+1237A>C (p.=)
n.583-4145A>C
n.674-4145A>C
n.679-4145A>C
n.577-4145A>C
n.680-4145A>C
dbSNP gnomAD
2g.189813872A>GCA1040461055PMS1c.419-4145A>G (p.=)
c.316-4145A>G (p.=)
n.505-4145A>G
n.419-4145A>G
c.236-4145A>G (p.=)
c.-110-4145A>G (p.=)
c.133-4145A>G (p.=)
n.1045-4145A>G
c.-111+1237A>G (p.=)
n.583-4145A>G
n.674-4145A>G
n.679-4145A>G
n.577-4145A>G
n.680-4145A>G
2g.189813880G>ACA762337221PMS1c.419-4137G>A (p.=)
c.316-4137G>A (p.=)
n.505-4137G>A
n.419-4137G>A
c.236-4137G>A (p.=)
c.-110-4137G>A (p.=)
c.133-4137G>A (p.=)
n.1045-4137G>A
c.-111+1245G>A (p.=)
n.583-4137G>A
n.674-4137G>A
n.679-4137G>A
n.577-4137G>A
n.680-4137G>A
2g.189813880G>TCA538459327PMS1c.419-4137G>T (p.=)
c.316-4137G>T (p.=)
n.505-4137G>T
n.419-4137G>T
c.236-4137G>T (p.=)
c.-110-4137G>T (p.=)
c.133-4137G>T (p.=)
n.1045-4137G>T
c.-111+1245G>T (p.=)
n.583-4137G>T
n.674-4137G>T
n.679-4137G>T
n.577-4137G>T
n.680-4137G>T
gnomAD
2g.189813881T>CCA538459328PMS1c.419-4136T>C (p.=)
c.316-4136T>C (p.=)
n.505-4136T>C
n.419-4136T>C
c.236-4136T>C (p.=)
c.-110-4136T>C (p.=)
c.133-4136T>C (p.=)
n.1045-4136T>C
c.-111+1246T>C (p.=)
n.583-4136T>C
n.674-4136T>C
n.679-4136T>C
n.577-4136T>C
n.680-4136T>C
gnomAD
2g.189813890C>ACA62618799PMS1c.419-4127C>A (p.=)
c.316-4127C>A (p.=)
n.505-4127C>A
n.419-4127C>A
c.236-4127C>A (p.=)
c.-110-4127C>A (p.=)
c.133-4127C>A (p.=)
n.1045-4127C>A
c.-111+1255C>A (p.=)
n.583-4127C>A
n.674-4127C>A
n.679-4127C>A
n.577-4127C>A
n.680-4127C>A
dbSNP
2g.189813892_189813893insGTAGAGGCAGAATGCATACCA538459329PMS1c.419-4125_419-4124insGTAGAGGCAGAATGCATAC (p.=)
c.316-4125_316-4124insGTAGAGGCAGAATGCATAC (p.=)
n.505-4125_505-4124insGTAGAGGCAGAATGCATAC
n.419-4125_419-4124insGTAGAGGCAGAATGCATAC
c.236-4125_236-4124insGTAGAGGCAGAATGCATAC (p.=)
c.-110-4125_-110-4124insGTAGAGGCAGAATGCATAC (p.=)
c.133-4125_133-4124insGTAGAGGCAGAATGCATAC (p.=)
n.1045-4125_1045-4124insGTAGAGGCAGAATGCATAC
c.-111+1257_-111+1258insGTAGAGGCAGAATGCATAC (p.=)
n.583-4125_583-4124insGTAGAGGCAGAATGCATAC
n.674-4125_674-4124insGTAGAGGCAGAATGCATAC
n.679-4125_679-4124insGTAGAGGCAGAATGCATAC
n.577-4125_577-4124insGTAGAGGCAGAATGCATAC
n.680-4125_680-4124insGTAGAGGCAGAATGCATAC
dbSNP gnomAD
2g.189813894_189813895insGCCA538459330PMS1c.419-4123_419-4122insGC (p.=)
c.316-4123_316-4122insGC (p.=)
n.505-4123_505-4122insGC
n.419-4123_419-4122insGC
c.236-4123_236-4122insGC (p.=)
c.-110-4123_-110-4122insGC (p.=)
c.133-4123_133-4122insGC (p.=)
n.1045-4123_1045-4122insGC
c.-111+1259_-111+1260insGC (p.=)
n.583-4123_583-4122insGC
n.674-4123_674-4122insGC
n.679-4123_679-4122insGC
n.577-4123_577-4122insGC
n.680-4123_680-4122insGC
dbSNP gnomAD
2g.189813897C>TCA1040461059PMS1c.419-4120C>T (p.=)
c.316-4120C>T (p.=)
n.505-4120C>T
n.419-4120C>T
c.236-4120C>T (p.=)
c.-110-4120C>T (p.=)
c.133-4120C>T (p.=)
n.1045-4120C>T
c.-111+1262C>T (p.=)
n.583-4120C>T
n.674-4120C>T
n.679-4120C>T
n.577-4120C>T
n.680-4120C>T
2g.189813902A>GCA1040461060PMS1c.419-4115A>G (p.=)
c.316-4115A>G (p.=)
n.505-4115A>G
n.419-4115A>G
c.236-4115A>G (p.=)
c.-110-4115A>G (p.=)
c.133-4115A>G (p.=)
n.1045-4115A>G
c.-111+1267A>G (p.=)
n.583-4115A>G
n.674-4115A>G
n.679-4115A>G
n.577-4115A>G
n.680-4115A>G
2g.189813906A>TCA647386551PMS1c.419-4111A>T (p.=)
c.316-4111A>T (p.=)
n.505-4111A>T
n.419-4111A>T
c.236-4111A>T (p.=)
c.-110-4111A>T (p.=)
c.133-4111A>T (p.=)
n.1045-4111A>T
c.-111+1271A>T (p.=)
n.583-4111A>T
n.674-4111A>T
n.679-4111A>T
n.577-4111A>T
n.680-4111A>T
COSMIC
2g.189813906_189813907insCCA62618814PMS1c.419-4111_419-4110insC (p.=)
c.316-4111_316-4110insC (p.=)
n.505-4111_505-4110insC
n.419-4111_419-4110insC
c.236-4111_236-4110insC (p.=)
c.-110-4111_-110-4110insC (p.=)
c.133-4111_133-4110insC (p.=)
n.1045-4111_1045-4110insC
c.-111+1271_-111+1272insC (p.=)
n.583-4111_583-4110insC
n.674-4111_674-4110insC
n.679-4111_679-4110insC
n.577-4111_577-4110insC
n.680-4111_680-4110insC
dbSNP
2g.189813910A>TCA62618823PMS1c.419-4107A>T (p.=)
c.316-4107A>T (p.=)
n.505-4107A>T
n.419-4107A>T
c.236-4107A>T (p.=)
c.-110-4107A>T (p.=)
c.133-4107A>T (p.=)
n.1045-4107A>T
c.-111+1275A>T (p.=)
n.583-4107A>T
n.674-4107A>T
n.679-4107A>T
n.577-4107A>T
n.680-4107A>T
dbSNP

Number of alleles fetched