Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47795896_47805709delCA658655622MSH6c.460_3646+2del
c.238-2715_3256+2del
c.163_3349+2del
c.169+2491_170-6451del (p.=)
c.*124+2290_*125-6451del (p.=)
c.458-2715_*2993+2del
c.-443_2740+2del
c.-279-2715_2740+2del
c.-2637_550+2del
c.277_3463+2del
2g.47799460G>ACA346745983MSH6c.1477G>A (p.Glu493Lys)
c.1087G>A (p.Glu363Lys)
c.1180G>A (p.Glu394Lys)
c.169+8735C>T (p.=)
c.*124+8534C>T (p.=)
c.*824G>A (p.=)
c.571G>A (p.Glu191Lys)
c.1474G>A (p.Glu492Lys)
c.-1620G>A (p.=)
c.1294G>A (p.Glu432Lys)
ClinVar
2g.47799460G>CCA346746001MSH6c.1477G>C (p.Glu493Gln)
c.1087G>C (p.Glu363Gln)
c.1180G>C (p.Glu394Gln)
c.169+8735C>G (p.=)
c.*124+8534C>G (p.=)
c.*824G>C (p.=)
c.571G>C (p.Glu191Gln)
c.1474G>C (p.Glu492Gln)
c.-1620G>C (p.=)
c.1294G>C (p.Glu432Gln)
2g.47799460G=CA2496048716MSH6c.1477G= (p.Glu493=)
c.1087G= (p.Glu363=)
c.1180G= (p.Glu394=)
c.169+8735C= (p.=)
c.*124+8534C= (p.=)
c.*824G= (p.=)
c.571G= (p.Glu191=)
c.1474G= (p.Glu492=)
c.-1620G= (p.=)
c.1294G= (p.Glu432=)
2g.47799460G>TCA008679MSH6c.1477G>T (p.Glu493Ter)
c.1087G>T (p.Glu363Ter)
c.1180G>T (p.Glu394Ter)
c.169+8735C>A (p.=)
c.*124+8534C>A (p.=)
c.*824G>T (p.=)
c.571G>T (p.Glu191Ter)
c.1474G>T (p.Glu492Ter)
c.-1620G>T (p.=)
c.1294G>T (p.Glu432Ter)
ClinVar dbSNP
2g.47799461A=CA2496048717MSH6c.1478A= (p.Glu493=)
c.1088A= (p.Glu363=)
c.1181A= (p.Glu394=)
c.169+8734T= (p.=)
c.*124+8533T= (p.=)
c.*825A= (p.=)
c.572A= (p.Glu191=)
c.1475A= (p.Glu492=)
c.-1619A= (p.=)
c.1295A= (p.Glu432=)
2g.47799461A>CCA346746013MSH6c.1478A>C (p.Glu493Ala)
c.1088A>C (p.Glu363Ala)
c.1181A>C (p.Glu394Ala)
c.169+8734T>G (p.=)
c.*124+8533T>G (p.=)
c.*825A>C (p.=)
c.572A>C (p.Glu191Ala)
c.1475A>C (p.Glu492Ala)
c.-1619A>C (p.=)
c.1295A>C (p.Glu432Ala)
ClinVar
2g.47799461A>GCA346746015MSH6c.1478A>G (p.Glu493Gly)
c.1088A>G (p.Glu363Gly)
c.1181A>G (p.Glu394Gly)
c.169+8734T>C (p.=)
c.*124+8533T>C (p.=)
c.*825A>G (p.=)
c.572A>G (p.Glu191Gly)
c.1475A>G (p.Glu492Gly)
c.-1619A>G (p.=)
c.1295A>G (p.Glu432Gly)
2g.47799461A>TCA346746016MSH6c.1478A>T (p.Glu493Val)
c.1088A>T (p.Glu363Val)
c.1181A>T (p.Glu394Val)
c.169+8734T>A (p.=)
c.*124+8533T>A (p.=)
c.*825A>T (p.=)
c.572A>T (p.Glu191Val)
c.1475A>T (p.Glu492Val)
c.-1619A>T (p.=)
c.1295A>T (p.Glu432Val)
2g.47799462G>ACA067732MSH6c.1479G>A (p.Glu493=)
c.1089G>A (p.Glu363=)
c.1182G>A (p.Glu394=)
c.169+8733C>T (p.=)
c.*124+8532C>T (p.=)
c.*826G>A (p.=)
c.573G>A (p.Glu191=)
c.1476G>A (p.Glu492=)
c.-1618G>A (p.=)
c.1296G>A (p.Glu432=)
dbSNP ExAC gnomAD COSMIC
2g.47799462G>CCA346746022MSH6c.1479G>C (p.Glu493Asp)
c.1089G>C (p.Glu363Asp)
c.1182G>C (p.Glu394Asp)
c.169+8733C>G (p.=)
c.*124+8532C>G (p.=)
c.*826G>C (p.=)
c.573G>C (p.Glu191Asp)
c.1476G>C (p.Glu492Asp)
c.-1618G>C (p.=)
c.1296G>C (p.Glu432Asp)
2g.47799462G=CA2496048718MSH6c.1479G= (p.Glu493=)
c.1089G= (p.Glu363=)
c.1182G= (p.Glu394=)
c.169+8733C= (p.=)
c.*124+8532C= (p.=)
c.*826G= (p.=)
c.573G= (p.Glu191=)
c.1476G= (p.Glu492=)
c.-1618G= (p.=)
c.1296G= (p.Glu432=)
2g.47799462G>TCA346746024MSH6c.1479G>T (p.Glu493Asp)
c.1089G>T (p.Glu363Asp)
c.1182G>T (p.Glu394Asp)
c.169+8733C>A (p.=)
c.*124+8532C>A (p.=)
c.*826G>T (p.=)
c.573G>T (p.Glu191Asp)
c.1476G>T (p.Glu492Asp)
c.-1618G>T (p.=)
c.1296G>T (p.Glu432Asp)
2g.47799463G>ACA346746028MSH6c.1480G>A (p.Ala494Thr)
c.1090G>A (p.Ala364Thr)
c.1183G>A (p.Ala395Thr)
c.169+8732C>T (p.=)
c.*124+8531C>T (p.=)
c.*827G>A (p.=)
c.574G>A (p.Ala192Thr)
c.1477G>A (p.Ala493Thr)
c.-1617G>A (p.=)
c.1297G>A (p.Ala433Thr)
2g.47799463G>CCA346746037MSH6c.1480G>C (p.Ala494Pro)
c.1090G>C (p.Ala364Pro)
c.1183G>C (p.Ala395Pro)
c.169+8732C>G (p.=)
c.*124+8531C>G (p.=)
c.*827G>C (p.=)
c.574G>C (p.Ala192Pro)
c.1477G>C (p.Ala493Pro)
c.-1617G>C (p.=)
c.1297G>C (p.Ala433Pro)
2g.47799463G=CA2496048719MSH6c.1480G= (p.Ala494=)
c.1090G= (p.Ala364=)
c.1183G= (p.Ala395=)
c.169+8732C= (p.=)
c.*124+8531C= (p.=)
c.*827G= (p.=)
c.574G= (p.Ala192=)
c.1477G= (p.Ala493=)
c.-1617G= (p.=)
c.1297G= (p.Ala433=)
2g.47799463G>TCA067740MSH6c.1480G>T (p.Ala494Ser)
c.1090G>T (p.Ala364Ser)
c.1183G>T (p.Ala395Ser)
c.169+8732C>A (p.=)
c.*124+8531C>A (p.=)
c.*827G>T (p.=)
c.574G>T (p.Ala192Ser)
c.1477G>T (p.Ala493Ser)
c.-1617G>T (p.=)
c.1297G>T (p.Ala433Ser)
ClinVar dbSNP ExAC gnomAD
2g.47799464C>ACA346746043MSH6c.1481C>A (p.Ala494Glu)
c.1091C>A (p.Ala364Glu)
c.1184C>A (p.Ala395Glu)
c.169+8731G>T (p.=)
c.*124+8530G>T (p.=)
c.*828C>A (p.=)
c.575C>A (p.Ala192Glu)
c.1478C>A (p.Ala493Glu)
c.-1616C>A (p.=)
c.1298C>A (p.Ala433Glu)
2g.47799464C=CA2496048720MSH6c.1481C= (p.Ala494=)
c.1091C= (p.Ala364=)
c.1184C= (p.Ala395=)
c.169+8731G= (p.=)
c.*124+8530G= (p.=)
c.*828C= (p.=)
c.575C= (p.Ala192=)
c.1478C= (p.Ala493=)
c.-1616C= (p.=)
c.1298C= (p.Ala433=)
2g.47799464C>GCA346746045MSH6c.1481C>G (p.Ala494Gly)
c.1091C>G (p.Ala364Gly)
c.1184C>G (p.Ala395Gly)
c.169+8731G>C (p.=)
c.*124+8530G>C (p.=)
c.*828C>G (p.=)
c.575C>G (p.Ala192Gly)
c.1478C>G (p.Ala493Gly)
c.-1616C>G (p.=)
c.1298C>G (p.Ala433Gly)
2g.47799464C>TCA346746046MSH6c.1481C>T (p.Ala494Val)
c.1091C>T (p.Ala364Val)
c.1184C>T (p.Ala395Val)
c.169+8731G>A (p.=)
c.*124+8530G>A (p.=)
c.*828C>T (p.=)
c.575C>T (p.Ala192Val)
c.1478C>T (p.Ala493Val)
c.-1616C>T (p.=)
c.1298C>T (p.Ala433Val)
ClinVar gnomAD
2g.47799465A=CA2496048721MSH6c.1482A= (p.Ala494=)
c.1092A= (p.Ala364=)
c.1185A= (p.Ala395=)
c.169+8730T= (p.=)
c.*124+8529T= (p.=)
c.*829A= (p.=)
c.576A= (p.Ala192=)
c.1479A= (p.Ala493=)
c.-1615A= (p.=)
c.1299A= (p.Ala433=)
2g.47799465A>CCA426121125MSH6c.1482A>C (p.Ala494=)
c.1092A>C (p.Ala364=)
c.1185A>C (p.Ala395=)
c.169+8730T>G (p.=)
c.*124+8529T>G (p.=)
c.*829A>C (p.=)
c.576A>C (p.Ala192=)
c.1479A>C (p.Ala493=)
c.-1615A>C (p.=)
c.1299A>C (p.Ala433=)
2g.47799465A>GCA008693MSH6c.1482A>G (p.Ala494=)
c.1092A>G (p.Ala364=)
c.1185A>G (p.Ala395=)
c.169+8730T>C (p.=)
c.*124+8529T>C (p.=)
c.*829A>G (p.=)
c.576A>G (p.Ala192=)
c.1479A>G (p.Ala493=)
c.-1615A>G (p.=)
c.1299A>G (p.Ala433=)
ClinVar dbSNP
2g.47799465A>TCA426121126MSH6c.1482A>T (p.Ala494=)
c.1092A>T (p.Ala364=)
c.1185A>T (p.Ala395=)
c.169+8730T>A (p.=)
c.*124+8529T>A (p.=)
c.*829A>T (p.=)
c.576A>T (p.Ala192=)
c.1479A>T (p.Ala493=)
c.-1615A>T (p.=)
c.1299A>T (p.Ala433=)
2g.47799466C>ACA426121127MSH6c.1483C>A (p.Arg495=)
c.1093C>A (p.Arg365=)
c.1186C>A (p.Arg396=)
c.169+8729G>T (p.=)
c.*124+8528G>T (p.=)
c.*830C>A (p.=)
c.577C>A (p.Arg193=)
c.1480C>A (p.Arg494=)
c.-1614C>A (p.=)
c.1300C>A (p.Arg434=)
ClinVar
2g.47799466C=CA2496048722MSH6c.1483C= (p.Arg495=)
c.1093C= (p.Arg365=)
c.1186C= (p.Arg396=)
c.169+8729G= (p.=)
c.*124+8528G= (p.=)
c.*830C= (p.=)
c.577C= (p.Arg193=)
c.1480C= (p.Arg494=)
c.-1614C= (p.=)
c.1300C= (p.Arg434=)
2g.47799466C>GCA346746049MSH6c.1483C>G (p.Arg495Gly)
c.1093C>G (p.Arg365Gly)
c.1186C>G (p.Arg396Gly)
c.169+8729G>C (p.=)
c.*124+8528G>C (p.=)
c.*830C>G (p.=)
c.577C>G (p.Arg193Gly)
c.1480C>G (p.Arg494Gly)
c.-1614C>G (p.=)
c.1300C>G (p.Arg434Gly)
2g.47799466C>TCA008701MSH6c.1483C>T (p.Arg495Ter)
c.1093C>T (p.Arg365Ter)
c.1186C>T (p.Arg396Ter)
c.169+8729G>A (p.=)
c.*124+8528G>A (p.=)
c.*830C>T (p.=)
c.577C>T (p.Arg193Ter)
c.1480C>T (p.Arg494Ter)
c.-1614C>T (p.=)
c.1300C>T (p.Arg434Ter)
ClinVar dbSNP gnomAD COSMIC
2g.47799467G>ACA346746059MSH6c.1484G>A (p.Arg495Gln)
c.1094G>A (p.Arg365Gln)
c.1187G>A (p.Arg396Gln)
c.169+8728C>T (p.=)
c.*124+8527C>T (p.=)
c.*831G>A (p.=)
c.578G>A (p.Arg193Gln)
c.1481G>A (p.Arg494Gln)
c.-1613G>A (p.=)
c.1301G>A (p.Arg434Gln)
ClinVar
2g.47799467G>CCA346746061MSH6c.1484G>C (p.Arg495Pro)
c.1094G>C (p.Arg365Pro)
c.1187G>C (p.Arg396Pro)
c.169+8728C>G (p.=)
c.*124+8527C>G (p.=)
c.*831G>C (p.=)
c.578G>C (p.Arg193Pro)
c.1481G>C (p.Arg494Pro)
c.-1613G>C (p.=)
c.1301G>C (p.Arg434Pro)
2g.47799467G=CA2496048723MSH6c.1484G= (p.Arg495=)
c.1094G= (p.Arg365=)
c.1187G= (p.Arg396=)
c.169+8728C= (p.=)
c.*124+8527C= (p.=)
c.*831G= (p.=)
c.578G= (p.Arg193=)
c.1481G= (p.Arg494=)
c.-1613G= (p.=)
c.1301G= (p.Arg434=)
2g.47799467G>TCA346746067MSH6c.1484G>T (p.Arg495Leu)
c.1094G>T (p.Arg365Leu)
c.1187G>T (p.Arg396Leu)
c.169+8728C>A (p.=)
c.*124+8527C>A (p.=)
c.*831G>T (p.=)
c.578G>T (p.Arg193Leu)
c.1481G>T (p.Arg494Leu)
c.-1613G>T (p.=)
c.1301G>T (p.Arg434Leu)
2g.47799468A=CA2496048724MSH6c.1485A= (p.Arg495=)
c.1095A= (p.Arg365=)
c.1188A= (p.Arg396=)
c.169+8727T= (p.=)
c.*124+8526T= (p.=)
c.*832A= (p.=)
c.579A= (p.Arg193=)
c.1482A= (p.Arg494=)
c.-1612A= (p.=)
c.1302A= (p.Arg434=)
2g.47799468A>CCA426121136MSH6c.1485A>C (p.Arg495=)
c.1095A>C (p.Arg365=)
c.1188A>C (p.Arg396=)
c.169+8727T>G (p.=)
c.*124+8526T>G (p.=)
c.*832A>C (p.=)
c.579A>C (p.Arg193=)
c.1482A>C (p.Arg494=)
c.-1612A>C (p.=)
c.1302A>C (p.Arg434=)
ClinVar
2g.47799468A>GCA426121135MSH6c.1485A>G (p.Arg495=)
c.1095A>G (p.Arg365=)
c.1188A>G (p.Arg396=)
c.169+8727T>C (p.=)
c.*124+8526T>C (p.=)
c.*832A>G (p.=)
c.579A>G (p.Arg193=)
c.1482A>G (p.Arg494=)
c.-1612A>G (p.=)
c.1302A>G (p.Arg434=)
2g.47799468A>TCA426121134MSH6c.1485A>T (p.Arg495=)
c.1095A>T (p.Arg365=)
c.1188A>T (p.Arg396=)
c.169+8727T>A (p.=)
c.*124+8526T>A (p.=)
c.*832A>T (p.=)
c.579A>T (p.Arg193=)
c.1482A>T (p.Arg494=)
c.-1612A>T (p.=)
c.1302A>T (p.Arg434=)
2g.47799469T>ACA346746068MSH6c.1486T>A (p.Cys496Ser)
c.1096T>A (p.Cys366Ser)
c.1189T>A (p.Cys397Ser)
c.169+8726A>T (p.=)
c.*124+8525A>T (p.=)
c.*833T>A (p.=)
c.580T>A (p.Cys194Ser)
c.1483T>A (p.Cys495Ser)
c.-1611T>A (p.=)
c.1303T>A (p.Cys435Ser)
2g.47799469T>CCA346746069MSH6c.1486T>C (p.Cys496Arg)
c.1096T>C (p.Cys366Arg)
c.1189T>C (p.Cys397Arg)
c.169+8726A>G (p.=)
c.*124+8525A>G (p.=)
c.*833T>C (p.=)
c.580T>C (p.Cys194Arg)
c.1483T>C (p.Cys495Arg)
c.-1611T>C (p.=)
c.1303T>C (p.Cys435Arg)
ClinVar
2g.47799469T>GCA346746070MSH6c.1486T>G (p.Cys496Gly)
c.1096T>G (p.Cys366Gly)
c.1189T>G (p.Cys397Gly)
c.169+8726A>C (p.=)
c.*124+8525A>C (p.=)
c.*833T>G (p.=)
c.580T>G (p.Cys194Gly)
c.1483T>G (p.Cys495Gly)
c.-1611T>G (p.=)
c.1303T>G (p.Cys435Gly)
2g.47799469T=CA2496048725MSH6c.1486T= (p.Cys496=)
c.1096T= (p.Cys366=)
c.1189T= (p.Cys397=)
c.169+8726A= (p.=)
c.*124+8525A= (p.=)
c.*833T= (p.=)
c.580T= (p.Cys194=)
c.1483T= (p.Cys495=)
c.-1611T= (p.=)
c.1303T= (p.Cys435=)
2g.47799470G>ACA067747MSH6c.1487G>A (p.Cys496Tyr)
c.1097G>A (p.Cys366Tyr)
c.1190G>A (p.Cys397Tyr)
c.169+8725C>T (p.=)
c.*124+8524C>T (p.=)
c.*834G>A (p.=)
c.581G>A (p.Cys194Tyr)
c.1484G>A (p.Cys495Tyr)
c.-1610G>A (p.=)
c.1304G>A (p.Cys435Tyr)
ClinVar dbSNP ExAC gnomAD
2g.47799470G>CCA346746071MSH6c.1487G>C (p.Cys496Ser)
c.1097G>C (p.Cys366Ser)
c.1190G>C (p.Cys397Ser)
c.169+8725C>G (p.=)
c.*124+8524C>G (p.=)
c.*834G>C (p.=)
c.581G>C (p.Cys194Ser)
c.1484G>C (p.Cys495Ser)
c.-1610G>C (p.=)
c.1304G>C (p.Cys435Ser)
ClinVar
2g.47799470G=CA2496048726MSH6c.1487G= (p.Cys496=)
c.1097G= (p.Cys366=)
c.1190G= (p.Cys397=)
c.169+8725C= (p.=)
c.*124+8524C= (p.=)
c.*834G= (p.=)
c.581G= (p.Cys194=)
c.1484G= (p.Cys495=)
c.-1610G= (p.=)
c.1304G= (p.Cys435=)
2g.47799470G>TCA346746072MSH6c.1487G>T (p.Cys496Phe)
c.1097G>T (p.Cys366Phe)
c.1190G>T (p.Cys397Phe)
c.169+8725C>A (p.=)
c.*124+8524C>A (p.=)
c.*834G>T (p.=)
c.581G>T (p.Cys194Phe)
c.1484G>T (p.Cys495Phe)
c.-1610G>T (p.=)
c.1304G>T (p.Cys435Phe)
2g.47799470_47799471insCAATTTCAACA2496048727MSH6c.1487_1488insCAATTTCAA (p.Cys496_Arg497insAsnPheAsn)
c.1097_1098insCAATTTCAA (p.Cys366_Arg367insAsnPheAsn)
c.1190_1191insCAATTTCAA (p.Cys397_Arg398insAsnPheAsn)
c.169+8724_169+8725insTTGAAATTG (p.=)
c.*124+8523_*124+8524insTTGAAATTG (p.=)
c.*834_*835insCAATTTCAA (p.=)
c.581_582insCAATTTCAA (p.Cys194_Arg195insAsnPheAsn)
c.1484_1485insCAATTTCAA (p.Cys495_Arg496insAsnPheAsn)
c.-1610_-1609insCAATTTCAA (p.=)
c.1304_1305insCAATTTCAA (p.Cys435_Arg436insAsnPheAsn)
dbSNP
2g.47799471T>ACA346746077MSH6c.1488T>A (p.Cys496Ter)
c.1098T>A (p.Cys366Ter)
c.1191T>A (p.Cys397Ter)
c.169+8724A>T (p.=)
c.*124+8523A>T (p.=)
c.*835T>A (p.=)
c.582T>A (p.Cys194Ter)
c.1485T>A (p.Cys495Ter)
c.-1609T>A (p.=)
c.1305T>A (p.Cys435Ter)
2g.47799471T>CCA426121139MSH6c.1488T>C (p.Cys496=)
c.1098T>C (p.Cys366=)
c.1191T>C (p.Cys397=)
c.169+8724A>G (p.=)
c.*124+8523A>G (p.=)
c.*835T>C (p.=)
c.582T>C (p.Cys194=)
c.1485T>C (p.Cys495=)
c.-1609T>C (p.=)
c.1305T>C (p.Cys435=)
2g.47799471T>GCA346746081MSH6c.1488T>G (p.Cys496Trp)
c.1098T>G (p.Cys366Trp)
c.1191T>G (p.Cys397Trp)
c.169+8724A>C (p.=)
c.*124+8523A>C (p.=)
c.*835T>G (p.=)
c.582T>G (p.Cys194Trp)
c.1485T>G (p.Cys495Trp)
c.-1609T>G (p.=)
c.1305T>G (p.Cys435Trp)
2g.47799471_47799473delinsTAGCA2496048728MSH6c.1488_1490delinsTAG (p.Cys496=)
c.1098_1100delinsTAG (p.Cys366=)
c.1191_1193delinsTAG (p.Cys397=)
c.169+8722_169+8724delinsCTA (p.=)
c.*124+8521_*124+8523delinsCTA (p.=)
c.*835_*837delinsTAG (p.=)
c.582_584delinsTAG (p.Cys194=)
c.1485_1487delinsTAG (p.Cys495=)
c.-1609_-1607delinsTAG (p.=)
c.1305_1307delinsTAG (p.Cys435=)

Number of alleles fetched