Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47401439_47411294del | CA331194 | ClinVar | ||
2 | g.47403192_47408555del | CA2581463442 | MSH2 | c.1_366del c.-31+17_168del n.73_438del n.63_428del | |
2 | g.47403280_47410368delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT | CA658760387 | MSH2 | c.89_641delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT c.-30-80_443delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT n.161_713delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT n.151_703delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT | |
2 | g.47408396_47408551delinsTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA | CA2495830047 | MSH2 | c.212-5_362delinsTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA c.14-5_164delinsTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA n.284-5_434delinsTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA n.274-5_424delinsTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATA | |
2 | g.47408397_47408552del | CA2499215995 | MSH2 | c.212-4_363del c.14-4_165del n.284-4_435del n.274-4_425del | ClinVar dbSNP |
2 | g.47408402_47408556del | CA645372532 | MSH2 | c.213_366+1del c.15_168+1del n.285_438+1del n.275_428+1del | ClinVar dbSNP |
2 | g.47408399_47408556del | CA2499215996 | MSH2 | c.212-2_366+1del c.14-2_168+1del n.284-2_438+1del n.274-2_428+1del | ClinVar dbSNP |
2 | g.47408400_47409267del | CA2499215997 | MSH2 | c.212-1_366+712del c.14-1_168+712del n.284-1_438+712del n.274-1_428+712del | ClinVar dbSNP |
2 | g.47408402_47410373del | CA2581463448 | MSH2 | c.213_645+1del c.15_447+1del n.285_717+1del n.275_707+1del | |
2 | g.47408400_47408556dup | CA2499215998 | MSH2 | c.212-1_366+1dup c.14-1_168+1dup n.284-1_438+1dup n.274-1_428+1dup | ClinVar |
2 | g.47408485_47408497del | CA2580067434 | MSH2 | c.296_308del (p.Arg99IlefsTer?) c.98_110del (p.Arg33IlefsTer?) n.368_380del n.358_370del | ClinVar |
2 | g.47408490_47408495del | CA020989 | MSH2 | c.301_306del (p.Glu101_Val102del) c.103_108del (p.Glu35_Val36del) n.373_378del n.363_368del | ClinVar dbSNP |
2 | g.47408490_47408495delinsAGTTGA | CA46672854 | MSH2 | c.301_306delinsAGTTGA (p.Glu101SerfsTer2) c.103_108delinsAGTTGA (p.Glu35SerfsTer2) n.373_378delinsAGTTGA n.363_368delinsAGTTGA | |
2 | g.47408493_47408503del | CA2658945893 | MSH2 | c.304_314del (p.Val102Ter) c.106_116del (p.Val36Ter) n.376_386del n.366_376del | gnomAD v4 |
2 | g.47408493G>A | CA020996 | MSH2 | c.304G>A (p.Val102Ile) c.106G>A (p.Val36Ile) n.376G>A n.366G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47408493G>C | CA346729634 | MSH2 | c.304G>C (p.Val102Leu) c.106G>C (p.Val36Leu) n.376G>C n.366G>C | |
2 | g.47408493G= | CA2495830270 | MSH2 | c.304G= (p.Val102=) c.106G= (p.Val36=) n.376G= n.366G= | |
2 | g.47408493G>T | CA346729635 | MSH2 | c.304G>T (p.Val102Phe) c.106G>T (p.Val36Phe) n.376G>T n.366G>T | |
2 | g.47408494T>A | CA346729636 | MSH2 | c.305T>A (p.Val102Asp) c.107T>A (p.Val36Asp) n.377T>A n.367T>A | dbSNP |
2 | g.47408494T>C | CA346729637 | MSH2 | c.305T>C (p.Val102Ala) c.107T>C (p.Val36Ala) n.377T>C n.367T>C | gnomAD v4 |
2 | g.47408494T>G | CA346729638 | MSH2 | c.305T>G (p.Val102Gly) c.107T>G (p.Val36Gly) n.377T>G n.367T>G | |
2 | g.47408496del | CA2580067439 | MSH2 | c.307del (p.Tyr103IlefsTer?) c.109del (p.Tyr37IlefsTer?) n.379del n.369del | ClinVar |
2 | g.47408495T>A | CA425965689 | MSH2 | c.306T>A (p.Val102=) c.108T>A (p.Val36=) n.378T>A n.368T>A | |
2 | g.47408495T>C | CA425965690 | MSH2 | c.306T>C (p.Val102=) c.108T>C (p.Val36=) n.378T>C n.368T>C | |
2 | g.47408495T>G | CA425965691 | MSH2 | c.306T>G (p.Val102=) c.108T>G (p.Val36=) n.378T>G n.368T>G | |
2 | g.47408496T>A | CA346729639 | MSH2 | c.307T>A (p.Tyr103Asn) c.109T>A (p.Tyr37Asn) n.379T>A n.369T>A | dbSNP |
2 | g.47408496T>C | CA020998 | MSH2 | c.307T>C (p.Tyr103His) c.109T>C (p.Tyr37His) n.379T>C n.369T>C | ClinVar dbSNP gnomAD v2 |
2 | g.47408496T>G | CA346729640 | MSH2 | c.307T>G (p.Tyr103Asp) c.109T>G (p.Tyr37Asp) n.379T>G n.369T>G | ClinVar |
2 | g.47408496T= | CA2495830271 | MSH2 | c.307T= (p.Tyr103=) c.109T= (p.Tyr37=) n.379T= n.369T= | |
2 | g.47408497del | CA2580067441 | MSH2 | c.308del (p.Tyr103LeufsTer?) c.110del (p.Tyr37LeufsTer?) n.380del n.370del | ClinVar |
2 | g.47408497A= | CA2495830272 | MSH2 | c.308A= (p.Tyr103=) c.110A= (p.Tyr37=) n.380A= n.370A= | |
2 | g.47408497A>C | CA346729641 | MSH2 | c.308A>C (p.Tyr103Ser) c.110A>C (p.Tyr37Ser) n.380A>C n.370A>C | ClinVar dbSNP |
2 | g.47408497A>G | CA021001 | MSH2 | c.308A>G (p.Tyr103Cys) c.110A>G (p.Tyr37Cys) n.380A>G n.370A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47408497A>T | CA346729642 | MSH2 | c.308A>T (p.Tyr103Phe) c.110A>T (p.Tyr37Phe) n.380A>T n.370A>T | ClinVar dbSNP |
2 | g.47408497_47408498delinsAT | CA2495830273 | MSH2 | c.308_309delinsAT (p.Tyr103=) c.110_111delinsAT (p.Tyr37=) n.380_381delinsAT n.370_371delinsAT | |
2 | g.47408498del | CA645369212 | MSH2 | c.309del (p.Tyr103Ter) c.111del (p.Tyr37Ter) n.381del n.371del | ClinVar dbSNP |
2 | g.47408498T>A | CA346729643 | MSH2 | c.309T>A (p.Tyr103Ter) c.111T>A (p.Tyr37Ter) n.381T>A n.371T>A | ClinVar |
2 | g.47408498T>C | CA425965692 | MSH2 | c.309T>C (p.Tyr103=) c.111T>C (p.Tyr37=) n.381T>C n.371T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47408498T>G | CA346729644 | MSH2 | c.309T>G (p.Tyr103Ter) c.111T>G (p.Tyr37Ter) n.381T>G n.371T>G | |
2 | g.47408498T= | CA2495830274 | MSH2 | c.309T= (p.Tyr103=) c.111T= (p.Tyr37=) n.381T= n.371T= | |
2 | g.47408499A= | CA2495830275 | MSH2 | c.310A= (p.Lys104=) c.112A= (p.Lys38=) n.382A= n.372A= | |
2 | g.47408499A>C | CA346729645 | MSH2 | c.310A>C (p.Lys104Gln) c.112A>C (p.Lys38Gln) n.382A>C n.372A>C | |
2 | g.47408499A>G | CA346729647 | MSH2 | c.310A>G (p.Lys104Glu) c.112A>G (p.Lys38Glu) n.382A>G n.372A>G | gnomAD v4 |
2 | g.47408499A>T | CA346729649 | MSH2 | c.310A>T (p.Lys104Ter) c.112A>T (p.Lys38Ter) n.382A>T n.372A>T | dbSNP |
2 | g.47408501_47408503del | CA2580067446 | MSH2 | c.312_314del (p.Lys104del) c.114_116del (p.Lys38del) n.384_386del n.374_376del | ClinVar |
2 | g.47408500A= | CA2495830276 | MSH2 | c.311A= (p.Lys104=) c.113A= (p.Lys38=) n.383A= n.373A= | |
2 | g.47408500A>C | CA346729650 | MSH2 | c.311A>C (p.Lys104Thr) c.113A>C (p.Lys38Thr) n.383A>C n.373A>C | ClinVar dbSNP |
2 | g.47408500A>G | CA346729651 | MSH2 | c.311A>G (p.Lys104Arg) c.113A>G (p.Lys38Arg) n.383A>G n.373A>G | |
2 | g.47408500A>T | CA346729652 | MSH2 | c.311A>T (p.Lys104Met) c.113A>T (p.Lys38Met) n.383A>T n.373A>T | dbSNP |
2 | g.47408501G>A | CA425965694 | MSH2 | c.312G>A (p.Lys104=) c.114G>A (p.Lys38=) n.384G>A n.374G>A | ClinVar dbSNP |