Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.5989115_5990272delCA331774PMS2c.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
7g.5989798_5990041delCA2499218966PMS2c.989-85_1144+3del
c.584-85_739+3del
c.*388-85_*543+3del
n.671-85_826+3del
n.804-7049_804-6806del (p.=)
n.989-85_1144+3del
c.671-85_826+3del
n.63-7135_63-6892del
n.1071-85_1226+3del
c.983-85_1138+3del
c.56-85_211+3del
c.1034-85_1189+3del
c.1033+1933_1034-2177del (p.=)
c.988+1933_989-2177del (p.=)
c.583+1933_584-2177del (p.=)
c.416-85_571+3del
c.680-85_835+3del
n.1076-85_1231+3del
ClinVar
7g.5989798A=CA1685235875PMS2c.1144+2T= (p.=)
c.739+2T= (p.=)
c.*543+2T= (p.=)
n.826+2T= (p.=)
n.804-6807T= (p.=)
n.1144+2T=
c.826+2T= (p.=)
n.63-6893T=
n.1226+2T=
c.1138+2T= (p.=)
c.211+2T= (p.=)
c.1189+2T= (p.=)
c.1033+2175T= (p.=)
c.988+2175T= (p.=)
c.583+2175T= (p.=)
c.571+2T= (p.=)
c.835+2T= (p.=)
n.1231+2T=
7g.5989798A>CCA366742713PMS2c.1144+2T>G (p.=)
c.739+2T>G (p.=)
c.*543+2T>G (p.=)
n.826+2T>G (p.=)
n.804-6807T>G (p.=)
n.1144+2T>G
c.826+2T>G (p.=)
n.63-6893T>G
n.1226+2T>G
c.1138+2T>G (p.=)
c.211+2T>G (p.=)
c.1189+2T>G (p.=)
c.1033+2175T>G (p.=)
c.988+2175T>G (p.=)
c.583+2175T>G (p.=)
c.571+2T>G (p.=)
c.835+2T>G (p.=)
n.1231+2T>G
7g.5989798A>GCA366742714PMS2c.1144+2T>C (p.=)
c.739+2T>C (p.=)
c.*543+2T>C (p.=)
n.826+2T>C (p.=)
n.804-6807T>C (p.=)
n.1144+2T>C
c.826+2T>C (p.=)
n.63-6893T>C
n.1226+2T>C
c.1138+2T>C (p.=)
c.211+2T>C (p.=)
c.1189+2T>C (p.=)
c.1033+2175T>C (p.=)
c.988+2175T>C (p.=)
c.583+2175T>C (p.=)
c.571+2T>C (p.=)
c.835+2T>C (p.=)
n.1231+2T>C
7g.5989798A>TCA009239PMS2c.1144+2T>A (p.=)
c.739+2T>A (p.=)
c.*543+2T>A (p.=)
n.826+2T>A (p.=)
n.804-6807T>A (p.=)
n.1144+2T>A
c.826+2T>A (p.=)
n.63-6893T>A
n.1226+2T>A
c.1138+2T>A (p.=)
c.211+2T>A (p.=)
c.1189+2T>A (p.=)
c.1033+2175T>A (p.=)
c.988+2175T>A (p.=)
c.583+2175T>A (p.=)
c.571+2T>A (p.=)
c.835+2T>A (p.=)
n.1231+2T>A
ClinVar dbSNP
7g.5989798_5989956delCA2499218967PMS2c.989-1_1144+2del
c.584-1_739+2del
c.*388-1_*543+2del
n.671-1_826+2del
n.804-6965_804-6807del (p.=)
n.989-1_1144+2del
c.671-1_826+2del
n.63-7051_63-6893del
n.1071-1_1226+2del
c.983-1_1138+2del
c.56-1_211+2del
c.1034-1_1189+2del
c.1033+2017_1033+2175del (p.=)
c.988+2017_988+2175del (p.=)
c.583+2017_583+2175del (p.=)
c.416-1_571+2del
c.680-1_835+2del
n.1076-1_1231+2del
ClinVar
7g.5989799C>ACA366742715PMS2c.1144+1G>T (p.=)
c.739+1G>T (p.=)
c.*543+1G>T (p.=)
n.826+1G>T (p.=)
n.804-6808G>T (p.=)
n.1144+1G>T
c.826+1G>T (p.=)
n.63-6894G>T
n.1226+1G>T
c.1138+1G>T (p.=)
c.211+1G>T (p.=)
c.1189+1G>T (p.=)
c.1033+2174G>T (p.=)
c.988+2174G>T (p.=)
c.583+2174G>T (p.=)
c.571+1G>T (p.=)
c.835+1G>T (p.=)
n.1231+1G>T
ClinVar
7g.5989799C=CA1685235901PMS2c.1144+1G= (p.=)
c.739+1G= (p.=)
c.*543+1G= (p.=)
n.826+1G= (p.=)
n.804-6808G= (p.=)
n.1144+1G=
c.826+1G= (p.=)
n.63-6894G=
n.1226+1G=
c.1138+1G= (p.=)
c.211+1G= (p.=)
c.1189+1G= (p.=)
c.1033+2174G= (p.=)
c.988+2174G= (p.=)
c.583+2174G= (p.=)
c.571+1G= (p.=)
c.835+1G= (p.=)
n.1231+1G=
7g.5989799C>GCA366742716PMS2c.1144+1G>C (p.=)
c.739+1G>C (p.=)
c.*543+1G>C (p.=)
n.826+1G>C (p.=)
n.804-6808G>C (p.=)
n.1144+1G>C
c.826+1G>C (p.=)
n.63-6894G>C
n.1226+1G>C
c.1138+1G>C (p.=)
c.211+1G>C (p.=)
c.1189+1G>C (p.=)
c.1033+2174G>C (p.=)
c.988+2174G>C (p.=)
c.583+2174G>C (p.=)
c.571+1G>C (p.=)
c.835+1G>C (p.=)
n.1231+1G>C
ClinVar
7g.5989799C>TCA009232PMS2c.1144+1G>A (p.=)
c.739+1G>A (p.=)
c.*543+1G>A (p.=)
n.826+1G>A (p.=)
n.804-6808G>A (p.=)
n.1144+1G>A
c.826+1G>A (p.=)
n.63-6894G>A
n.1226+1G>A
c.1138+1G>A (p.=)
c.211+1G>A (p.=)
c.1189+1G>A (p.=)
c.1033+2174G>A (p.=)
c.988+2174G>A (p.=)
c.583+2174G>A (p.=)
c.571+1G>A (p.=)
c.835+1G>A (p.=)
n.1231+1G>A
ClinVar dbSNP ExAC gnomAD
7g.5989800delCA2499218968PMS2c.1144+1del
c.739+1del
c.*543+1del
n.826+1del
n.804-6808del (p.=)
n.1144+1del
c.826+1del
n.63-6894del
n.1226+1del
c.1138+1del
c.211+1del
c.1189+1del
c.1033+2174del (p.=)
c.988+2174del (p.=)
c.583+2174del (p.=)
c.571+1del
c.835+1del
n.1231+1del
ClinVar
7g.5989800C>ACA366742717PMS2c.1144G>T (p.Gly382Cys)
c.739G>T (p.Gly247Cys)
c.*543G>T (p.=)
n.826G>T (p.Gly276Cys)
n.804-6809G>T (p.=)
n.1144G>T
c.826G>T (p.Gly276Cys)
n.63-6895G>T
n.1226G>T
c.1138G>T (p.Gly380Cys)
c.211G>T (p.Gly71Cys)
c.1189G>T (p.Gly397Cys)
c.1033+2173G>T (p.=)
c.988+2173G>T (p.=)
c.583+2173G>T (p.=)
c.571G>T (p.Gly191Cys)
c.835G>T (p.Gly279Cys)
n.1231G>T
7g.5989800C=CA1685235908PMS2c.1144G= (p.Gly382=)
c.739G= (p.Gly247=)
c.*543G= (p.=)
n.826G= (p.Gly276=)
n.804-6809G= (p.=)
n.1144G=
c.826G= (p.Gly276=)
n.63-6895G=
n.1226G=
c.1138G= (p.Gly380=)
c.211G= (p.Gly71=)
c.1189G= (p.Gly397=)
c.1033+2173G= (p.=)
c.988+2173G= (p.=)
c.583+2173G= (p.=)
c.571G= (p.Gly191=)
c.835G= (p.Gly279=)
n.1231G=
7g.5989800C>GCA042158PMS2c.1144G>C (p.Gly382Arg)
c.739G>C (p.Gly247Arg)
c.*543G>C (p.=)
n.826G>C (p.Gly276Arg)
n.804-6809G>C (p.=)
n.1144G>C
c.826G>C (p.Gly276Arg)
n.63-6895G>C
n.1226G>C
c.1138G>C (p.Gly380Arg)
c.211G>C (p.Gly71Arg)
c.1189G>C (p.Gly397Arg)
c.1033+2173G>C (p.=)
c.988+2173G>C (p.=)
c.583+2173G>C (p.=)
c.571G>C (p.Gly191Arg)
c.835G>C (p.Gly279Arg)
n.1231G>C
dbSNP ExAC gnomAD
7g.5989800C>TCA366742718PMS2c.1144G>A (p.Gly382Ser)
c.739G>A (p.Gly247Ser)
c.*543G>A (p.=)
n.826G>A (p.Gly276Ser)
n.804-6809G>A (p.=)
n.1144G>A
c.826G>A (p.Gly276Ser)
n.63-6895G>A
n.1226G>A
c.1138G>A (p.Gly380Ser)
c.211G>A (p.Gly71Ser)
c.1189G>A (p.Gly397Ser)
c.1033+2173G>A (p.=)
c.988+2173G>A (p.=)
c.583+2173G>A (p.=)
c.571G>A (p.Gly191Ser)
c.835G>A (p.Gly279Ser)
n.1231G>A
ClinVar
7g.5989802_5989957delCA453644037PMS2c.989_1144del
c.584_739del
c.*388_*543del
n.671_826del
n.804-6964_804-6809del (p.=)
n.989_1144del
c.671_826del
n.63-7050_63-6895del
n.1071_1226del
c.983_1138del
c.56_211del
c.1034_1189del
c.1033+2018_1033+2173del (p.=)
c.988+2018_988+2173del (p.=)
c.583+2018_583+2173del (p.=)
c.416_571del
c.680_835del
n.1076_1231del
7g.5989801T>ACA366742719PMS2c.1143A>T (p.Glu381Asp)
c.738A>T (p.Glu246Asp)
c.*542A>T (p.=)
n.825A>T (p.Glu275Asp)
n.804-6810A>T (p.=)
n.1143A>T
c.825A>T (p.Glu275Asp)
n.63-6896A>T
n.1225A>T
c.1137A>T (p.Glu379Asp)
c.210A>T (p.Glu70Asp)
c.1188A>T (p.Glu396Asp)
c.1033+2172A>T (p.=)
c.988+2172A>T (p.=)
c.583+2172A>T (p.=)
c.570A>T (p.Glu190Asp)
c.834A>T (p.Glu278Asp)
n.1230A>T
7g.5989801T>CCA453644038PMS2c.1143A>G (p.Glu381=)
c.738A>G (p.Glu246=)
c.*542A>G (p.=)
n.825A>G (p.Glu275=)
n.804-6810A>G (p.=)
n.1143A>G
c.825A>G (p.Glu275=)
n.63-6896A>G
n.1225A>G
c.1137A>G (p.Glu379=)
c.210A>G (p.Glu70=)
c.1188A>G (p.Glu396=)
c.1033+2172A>G (p.=)
c.988+2172A>G (p.=)
c.583+2172A>G (p.=)
c.570A>G (p.Glu190=)
c.834A>G (p.Glu278=)
n.1230A>G
7g.5989801T>GCA366742720PMS2c.1143A>C (p.Glu381Asp)
c.738A>C (p.Glu246Asp)
c.*542A>C (p.=)
n.825A>C (p.Glu275Asp)
n.804-6810A>C (p.=)
n.1143A>C
c.825A>C (p.Glu275Asp)
n.63-6896A>C
n.1225A>C
c.1137A>C (p.Glu379Asp)
c.210A>C (p.Glu70Asp)
c.1188A>C (p.Glu396Asp)
c.1033+2172A>C (p.=)
c.988+2172A>C (p.=)
c.583+2172A>C (p.=)
c.570A>C (p.Glu190Asp)
c.834A>C (p.Glu278Asp)
n.1230A>C
7g.5989802T>ACA366742721PMS2c.1142A>T (p.Glu381Val)
c.737A>T (p.Glu246Val)
c.*541A>T (p.=)
n.824A>T (p.Glu275Val)
n.804-6811A>T (p.=)
n.1142A>T
c.824A>T (p.Glu275Val)
n.63-6897A>T
n.1224A>T
c.1136A>T (p.Glu379Val)
c.209A>T (p.Glu70Val)
c.1187A>T (p.Glu396Val)
c.1033+2171A>T (p.=)
c.988+2171A>T (p.=)
c.583+2171A>T (p.=)
c.569A>T (p.Glu190Val)
c.833A>T (p.Glu278Val)
n.1229A>T
7g.5989802T>CCA366742722PMS2c.1142A>G (p.Glu381Gly)
c.737A>G (p.Glu246Gly)
c.*541A>G (p.=)
n.824A>G (p.Glu275Gly)
n.804-6811A>G (p.=)
n.1142A>G
c.824A>G (p.Glu275Gly)
n.63-6897A>G
n.1224A>G
c.1136A>G (p.Glu379Gly)
c.209A>G (p.Glu70Gly)
c.1187A>G (p.Glu396Gly)
c.1033+2171A>G (p.=)
c.988+2171A>G (p.=)
c.583+2171A>G (p.=)
c.569A>G (p.Glu190Gly)
c.833A>G (p.Glu278Gly)
n.1229A>G
7g.5989802T>GCA366742723PMS2c.1142A>C (p.Glu381Ala)
c.737A>C (p.Glu246Ala)
c.*541A>C (p.=)
n.824A>C (p.Glu275Ala)
n.804-6811A>C (p.=)
n.1142A>C
c.824A>C (p.Glu275Ala)
n.63-6897A>C
n.1224A>C
c.1136A>C (p.Glu379Ala)
c.209A>C (p.Glu70Ala)
c.1187A>C (p.Glu396Ala)
c.1033+2171A>C (p.=)
c.988+2171A>C (p.=)
c.583+2171A>C (p.=)
c.569A>C (p.Glu190Ala)
c.833A>C (p.Glu278Ala)
n.1229A>C
7g.5989803C>ACA366742724PMS2c.1141G>T (p.Glu381Ter)
c.736G>T (p.Glu246Ter)
c.*540G>T (p.=)
n.823G>T (p.Glu275Ter)
n.804-6812G>T (p.=)
n.1141G>T
c.823G>T (p.Glu275Ter)
n.63-6898G>T
n.1223G>T
c.1135G>T (p.Glu379Ter)
c.208G>T (p.Glu70Ter)
c.1186G>T (p.Glu396Ter)
c.1033+2170G>T (p.=)
c.988+2170G>T (p.=)
c.583+2170G>T (p.=)
c.568G>T (p.Glu190Ter)
c.832G>T (p.Glu278Ter)
n.1228G>T
7g.5989803C>GCA366742725PMS2c.1141G>C (p.Glu381Gln)
c.736G>C (p.Glu246Gln)
c.*540G>C (p.=)
n.823G>C (p.Glu275Gln)
n.804-6812G>C (p.=)
n.1141G>C
c.823G>C (p.Glu275Gln)
n.63-6898G>C
n.1223G>C
c.1135G>C (p.Glu379Gln)
c.208G>C (p.Glu70Gln)
c.1186G>C (p.Glu396Gln)
c.1033+2170G>C (p.=)
c.988+2170G>C (p.=)
c.583+2170G>C (p.=)
c.568G>C (p.Glu190Gln)
c.832G>C (p.Glu278Gln)
n.1228G>C
7g.5989803C>TCA366742726PMS2c.1141G>A (p.Glu381Lys)
c.736G>A (p.Glu246Lys)
c.*540G>A (p.=)
n.823G>A (p.Glu275Lys)
n.804-6812G>A (p.=)
n.1141G>A
c.823G>A (p.Glu275Lys)
n.63-6898G>A
n.1223G>A
c.1135G>A (p.Glu379Lys)
c.208G>A (p.Glu70Lys)
c.1186G>A (p.Glu396Lys)
c.1033+2170G>A (p.=)
c.988+2170G>A (p.=)
c.583+2170G>A (p.=)
c.568G>A (p.Glu190Lys)
c.832G>A (p.Glu278Lys)
n.1228G>A
7g.5989804A>CCA453644045PMS2c.1140T>G (p.Val380=)
c.735T>G (p.Val245=)
c.*539T>G (p.=)
n.822T>G (p.Val274=)
n.804-6813T>G (p.=)
n.1140T>G
c.822T>G (p.Val274=)
n.63-6899T>G
n.1222T>G
c.1134T>G (p.Val378=)
c.207T>G (p.Val69=)
c.1185T>G (p.Val395=)
c.1033+2169T>G (p.=)
c.988+2169T>G (p.=)
c.583+2169T>G (p.=)
c.567T>G (p.Val189=)
c.831T>G (p.Val277=)
n.1227T>G
7g.5989804A>GCA453644044PMS2c.1140T>C (p.Val380=)
c.735T>C (p.Val245=)
c.*539T>C (p.=)
n.822T>C (p.Val274=)
n.804-6813T>C (p.=)
n.1140T>C
c.822T>C (p.Val274=)
n.63-6899T>C
n.1222T>C
c.1134T>C (p.Val378=)
c.207T>C (p.Val69=)
c.1185T>C (p.Val395=)
c.1033+2169T>C (p.=)
c.988+2169T>C (p.=)
c.583+2169T>C (p.=)
c.567T>C (p.Val189=)
c.831T>C (p.Val277=)
n.1227T>C
7g.5989804A>TCA453644043PMS2c.1140T>A (p.Val380=)
c.735T>A (p.Val245=)
c.*539T>A (p.=)
n.822T>A (p.Val274=)
n.804-6813T>A (p.=)
n.1140T>A
c.822T>A (p.Val274=)
n.63-6899T>A
n.1222T>A
c.1134T>A (p.Val378=)
c.207T>A (p.Val69=)
c.1185T>A (p.Val395=)
c.1033+2169T>A (p.=)
c.988+2169T>A (p.=)
c.583+2169T>A (p.=)
c.567T>A (p.Val189=)
c.831T>A (p.Val277=)
n.1227T>A
7g.5989805A=CA1685235927PMS2c.1139T= (p.Val380=)
c.734T= (p.Val245=)
c.*538T= (p.=)
n.821T= (p.Val274=)
n.804-6814T= (p.=)
n.1139T=
c.821T= (p.Val274=)
n.63-6900T=
n.1221T=
c.1133T= (p.Val378=)
c.206T= (p.Val69=)
c.1184T= (p.Val395=)
c.1033+2168T= (p.=)
c.988+2168T= (p.=)
c.583+2168T= (p.=)
c.566T= (p.Val189=)
c.830T= (p.Val277=)
n.1226T=
7g.5989805A>CCA042071PMS2c.1139T>G (p.Val380Gly)
c.734T>G (p.Val245Gly)
c.*538T>G (p.=)
n.821T>G (p.Val274Gly)
n.804-6814T>G (p.=)
n.1139T>G
c.821T>G (p.Val274Gly)
n.63-6900T>G
n.1221T>G
c.1133T>G (p.Val378Gly)
c.206T>G (p.Val69Gly)
c.1184T>G (p.Val395Gly)
c.1033+2168T>G (p.=)
c.988+2168T>G (p.=)
c.583+2168T>G (p.=)
c.566T>G (p.Val189Gly)
c.830T>G (p.Val277Gly)
n.1226T>G
ClinVar dbSNP ExAC gnomAD
7g.5989805A>GCA366742727PMS2c.1139T>C (p.Val380Ala)
c.734T>C (p.Val245Ala)
c.*538T>C (p.=)
n.821T>C (p.Val274Ala)
n.804-6814T>C (p.=)
n.1139T>C
c.821T>C (p.Val274Ala)
n.63-6900T>C
n.1221T>C
c.1133T>C (p.Val378Ala)
c.206T>C (p.Val69Ala)
c.1184T>C (p.Val395Ala)
c.1033+2168T>C (p.=)
c.988+2168T>C (p.=)
c.583+2168T>C (p.=)
c.566T>C (p.Val189Ala)
c.830T>C (p.Val277Ala)
n.1226T>C
ClinVar
7g.5989805A>TCA366742728PMS2c.1139T>A (p.Val380Asp)
c.734T>A (p.Val245Asp)
c.*538T>A (p.=)
n.821T>A (p.Val274Asp)
n.804-6814T>A (p.=)
n.1139T>A
c.821T>A (p.Val274Asp)
n.63-6900T>A
n.1221T>A
c.1133T>A (p.Val378Asp)
c.206T>A (p.Val69Asp)
c.1184T>A (p.Val395Asp)
c.1033+2168T>A (p.=)
c.988+2168T>A (p.=)
c.583+2168T>A (p.=)
c.566T>A (p.Val189Asp)
c.830T>A (p.Val277Asp)
n.1226T>A
7g.5989806C>ACA366742729PMS2c.1138G>T (p.Val380Phe)
c.733G>T (p.Val245Phe)
c.*537G>T (p.=)
n.820G>T (p.Val274Phe)
n.804-6815G>T (p.=)
n.1138G>T
c.820G>T (p.Val274Phe)
n.63-6901G>T
n.1220G>T
c.1132G>T (p.Val378Phe)
c.205G>T (p.Val69Phe)
c.1183G>T (p.Val395Phe)
c.1033+2167G>T (p.=)
c.988+2167G>T (p.=)
c.583+2167G>T (p.=)
c.565G>T (p.Val189Phe)
c.829G>T (p.Val277Phe)
n.1225G>T
7g.5989806C>GCA366742731PMS2c.1138G>C (p.Val380Leu)
c.733G>C (p.Val245Leu)
c.*537G>C (p.=)
n.820G>C (p.Val274Leu)
n.804-6815G>C (p.=)
n.1138G>C
c.820G>C (p.Val274Leu)
n.63-6901G>C
n.1220G>C
c.1132G>C (p.Val378Leu)
c.205G>C (p.Val69Leu)
c.1183G>C (p.Val395Leu)
c.1033+2167G>C (p.=)
c.988+2167G>C (p.=)
c.583+2167G>C (p.=)
c.565G>C (p.Val189Leu)
c.829G>C (p.Val277Leu)
n.1225G>C
7g.5989806C>TCA366742730PMS2c.1138G>A (p.Val380Ile)
c.733G>A (p.Val245Ile)
c.*537G>A (p.=)
n.820G>A (p.Val274Ile)
n.804-6815G>A (p.=)
n.1138G>A
c.820G>A (p.Val274Ile)
n.63-6901G>A
n.1220G>A
c.1132G>A (p.Val378Ile)
c.205G>A (p.Val69Ile)
c.1183G>A (p.Val395Ile)
c.1033+2167G>A (p.=)
c.988+2167G>A (p.=)
c.583+2167G>A (p.=)
c.565G>A (p.Val189Ile)
c.829G>A (p.Val277Ile)
n.1225G>A
7g.5989807A>CCA366742732PMS2c.1137T>G (p.Asp379Glu)
c.732T>G (p.Asp244Glu)
c.*536T>G (p.=)
n.819T>G (p.Asp273Glu)
n.804-6816T>G (p.=)
n.1137T>G
c.819T>G (p.Asp273Glu)
n.63-6902T>G
n.1219T>G
c.1131T>G (p.Asp377Glu)
c.204T>G (p.Asp68Glu)
c.1182T>G (p.Asp394Glu)
c.1033+2166T>G (p.=)
c.988+2166T>G (p.=)
c.583+2166T>G (p.=)
c.564T>G (p.Asp188Glu)
c.828T>G (p.Asp276Glu)
n.1224T>G
7g.5989807A>GCA453644051PMS2c.1137T>C (p.Asp379=)
c.732T>C (p.Asp244=)
c.*536T>C (p.=)
n.819T>C (p.Asp273=)
n.804-6816T>C (p.=)
n.1137T>C
c.819T>C (p.Asp273=)
n.63-6902T>C
n.1219T>C
c.1131T>C (p.Asp377=)
c.204T>C (p.Asp68=)
c.1182T>C (p.Asp394=)
c.1033+2166T>C (p.=)
c.988+2166T>C (p.=)
c.583+2166T>C (p.=)
c.564T>C (p.Asp188=)
c.828T>C (p.Asp276=)
n.1224T>C
7g.5989807A>TCA366742733PMS2c.1137T>A (p.Asp379Glu)
c.732T>A (p.Asp244Glu)
c.*536T>A (p.=)
n.819T>A (p.Asp273Glu)
n.804-6816T>A (p.=)
n.1137T>A
c.819T>A (p.Asp273Glu)
n.63-6902T>A
n.1219T>A
c.1131T>A (p.Asp377Glu)
c.204T>A (p.Asp68Glu)
c.1182T>A (p.Asp394Glu)
c.1033+2166T>A (p.=)
c.988+2166T>A (p.=)
c.583+2166T>A (p.=)
c.564T>A (p.Asp188Glu)
c.828T>A (p.Asp276Glu)
n.1224T>A
7g.5989808T>ACA153230500PMS2c.1136A>T (p.Asp379Val)
c.731A>T (p.Asp244Val)
c.*535A>T (p.=)
n.818A>T (p.Asp273Val)
n.804-6817A>T (p.=)
n.1136A>T
c.818A>T (p.Asp273Val)
n.63-6903A>T
n.1218A>T
c.1130A>T (p.Asp377Val)
c.203A>T (p.Asp68Val)
c.1181A>T (p.Asp394Val)
c.1033+2165A>T (p.=)
c.988+2165A>T (p.=)
c.583+2165A>T (p.=)
c.563A>T (p.Asp188Val)
c.827A>T (p.Asp276Val)
n.1223A>T
ClinVar dbSNP
7g.5989808T>CCA366742734PMS2c.1136A>G (p.Asp379Gly)
c.731A>G (p.Asp244Gly)
c.*535A>G (p.=)
n.818A>G (p.Asp273Gly)
n.804-6817A>G (p.=)
n.1136A>G
c.818A>G (p.Asp273Gly)
n.63-6903A>G
n.1218A>G
c.1130A>G (p.Asp377Gly)
c.203A>G (p.Asp68Gly)
c.1181A>G (p.Asp394Gly)
c.1033+2165A>G (p.=)
c.988+2165A>G (p.=)
c.583+2165A>G (p.=)
c.563A>G (p.Asp188Gly)
c.827A>G (p.Asp276Gly)
n.1223A>G
7g.5989808T>GCA366742735PMS2c.1136A>C (p.Asp379Ala)
c.731A>C (p.Asp244Ala)
c.*535A>C (p.=)
n.818A>C (p.Asp273Ala)
n.804-6817A>C (p.=)
n.1136A>C
c.818A>C (p.Asp273Ala)
n.63-6903A>C
n.1218A>C
c.1130A>C (p.Asp377Ala)
c.203A>C (p.Asp68Ala)
c.1181A>C (p.Asp394Ala)
c.1033+2165A>C (p.=)
c.988+2165A>C (p.=)
c.583+2165A>C (p.=)
c.563A>C (p.Asp188Ala)
c.827A>C (p.Asp276Ala)
n.1223A>C
ClinVar
7g.5989808T=CA1685235941PMS2c.1136A= (p.Asp379=)
c.731A= (p.Asp244=)
c.*535A= (p.=)
n.818A= (p.Asp273=)
n.804-6817A= (p.=)
n.1136A=
c.818A= (p.Asp273=)
n.63-6903A=
n.1218A=
c.1130A= (p.Asp377=)
c.203A= (p.Asp68=)
c.1181A= (p.Asp394=)
c.1033+2165A= (p.=)
c.988+2165A= (p.=)
c.583+2165A= (p.=)
c.563A= (p.Asp188=)
c.827A= (p.Asp276=)
n.1223A=
7g.5989809C>ACA366742736PMS2c.1135G>T (p.Asp379Tyr)
c.730G>T (p.Asp244Tyr)
c.*534G>T (p.=)
n.817G>T (p.Asp273Tyr)
n.804-6818G>T (p.=)
n.1135G>T
c.817G>T (p.Asp273Tyr)
n.63-6904G>T
n.1217G>T
c.1129G>T (p.Asp377Tyr)
c.202G>T (p.Asp68Tyr)
c.1180G>T (p.Asp394Tyr)
c.1033+2164G>T (p.=)
c.988+2164G>T (p.=)
c.583+2164G>T (p.=)
c.562G>T (p.Asp188Tyr)
c.826G>T (p.Asp276Tyr)
n.1222G>T
7g.5989809C>GCA366742737PMS2c.1135G>C (p.Asp379His)
c.730G>C (p.Asp244His)
c.*534G>C (p.=)
n.817G>C (p.Asp273His)
n.804-6818G>C (p.=)
n.1135G>C
c.817G>C (p.Asp273His)
n.63-6904G>C
n.1217G>C
c.1129G>C (p.Asp377His)
c.202G>C (p.Asp68His)
c.1180G>C (p.Asp394His)
c.1033+2164G>C (p.=)
c.988+2164G>C (p.=)
c.583+2164G>C (p.=)
c.562G>C (p.Asp188His)
c.826G>C (p.Asp276His)
n.1222G>C
7g.5989809C>TCA366742738PMS2c.1135G>A (p.Asp379Asn)
c.730G>A (p.Asp244Asn)
c.*534G>A (p.=)
n.817G>A (p.Asp273Asn)
n.804-6818G>A (p.=)
n.1135G>A
c.817G>A (p.Asp273Asn)
n.63-6904G>A
n.1217G>A
c.1129G>A (p.Asp377Asn)
c.202G>A (p.Asp68Asn)
c.1180G>A (p.Asp394Asn)
c.1033+2164G>A (p.=)
c.988+2164G>A (p.=)
c.583+2164G>A (p.=)
c.562G>A (p.Asp188Asn)
c.826G>A (p.Asp276Asn)
n.1222G>A
7g.5989809_5989812delinsCCAGCA1685235948PMS2c.1132_1135delinsCTGG (p.Leu378=)
c.727_730delinsCTGG (p.Leu243=)
c.*531_*534delinsCTGG (p.=)
n.814_817delinsCTGG (p.Leu272=)
n.804-6821_804-6818delinsCTGG (p.=)
n.1132_1135delinsCTGG
c.814_817delinsCTGG (p.Leu272=)
n.63-6907_63-6904delinsCTGG
n.1214_1217delinsCTGG
c.1126_1129delinsCTGG (p.Leu376=)
c.199_202delinsCTGG (p.Leu67=)
c.1177_1180delinsCTGG (p.Leu393=)
c.1033+2161_1033+2164delinsCTGG (p.=)
c.988+2161_988+2164delinsCTGG (p.=)
c.583+2161_583+2164delinsCTGG (p.=)
c.559_562delinsCTGG (p.Leu187=)
c.823_826delinsCTGG (p.Leu275=)
n.1219_1222delinsCTGG
7g.5989810C>ACA10578684PMS2c.1134G>T (p.Leu378=)
c.729G>T (p.Leu243=)
c.*533G>T (p.=)
n.816G>T (p.Leu272=)
n.804-6819G>T (p.=)
n.1134G>T
c.816G>T (p.Leu272=)
n.63-6905G>T
n.1216G>T
c.1128G>T (p.Leu376=)
c.201G>T (p.Leu67=)
c.1179G>T (p.Leu393=)
c.1033+2163G>T (p.=)
c.988+2163G>T (p.=)
c.583+2163G>T (p.=)
c.561G>T (p.Leu187=)
c.825G>T (p.Leu275=)
n.1221G>T
ClinVar dbSNP
7g.5989810C=CA1685235957PMS2c.1134G= (p.Leu378=)
c.729G= (p.Leu243=)
c.*533G= (p.=)
n.816G= (p.Leu272=)
n.804-6819G= (p.=)
n.1134G=
c.816G= (p.Leu272=)
n.63-6905G=
n.1216G=
c.1128G= (p.Leu376=)
c.201G= (p.Leu67=)
c.1179G= (p.Leu393=)
c.1033+2163G= (p.=)
c.988+2163G= (p.=)
c.583+2163G= (p.=)
c.561G= (p.Leu187=)
c.825G= (p.Leu275=)
n.1221G=
7g.5989810C>GCA453644053PMS2c.1134G>C (p.Leu378=)
c.729G>C (p.Leu243=)
c.*533G>C (p.=)
n.816G>C (p.Leu272=)
n.804-6819G>C (p.=)
n.1134G>C
c.816G>C (p.Leu272=)
n.63-6905G>C
n.1216G>C
c.1128G>C (p.Leu376=)
c.201G>C (p.Leu67=)
c.1179G>C (p.Leu393=)
c.1033+2163G>C (p.=)
c.988+2163G>C (p.=)
c.583+2163G>C (p.=)
c.561G>C (p.Leu187=)
c.825G>C (p.Leu275=)
n.1221G>C
ClinVar

Number of alleles fetched