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.47408493_47408503del | CA2658945893 | MSH2 | c.304_314del (p.Val102Ter) c.106_116del (p.Val36Ter) n.376_386del n.366_376del | gnomAD v4 |
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 | ClinVar 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 | ClinVar |
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 |
2 | g.47408501G>C | CA037821 | MSH2 | c.312G>C (p.Lys104Asn) c.114G>C (p.Lys38Asn) n.384G>C n.374G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47408501G= | CA2495830277 | MSH2 | c.312G= (p.Lys104=) c.114G= (p.Lys38=) n.384G= n.374G= | |
2 | g.47408501G>T | CA346729656 | MSH2 | c.312G>T (p.Lys104Asn) c.114G>T (p.Lys38Asn) n.384G>T n.374G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47408502A>C | CA346729660 | MSH2 | c.313A>C (p.Asn105His) c.115A>C (p.Asn39His) n.385A>C n.375A>C | |
2 | g.47408502A>G | CA346729667 | MSH2 | c.313A>G (p.Asn105Asp) c.115A>G (p.Asn39Asp) n.385A>G n.375A>G | ClinVar dbSNP |
2 | g.47408502A>T | CA346729669 | MSH2 | c.313A>T (p.Asn105Tyr) c.115A>T (p.Asn39Tyr) n.385A>T n.375A>T | |
2 | g.47408503A= | CA2495830278 | MSH2 | c.314A= (p.Asn105=) c.116A= (p.Asn39=) n.386A= n.376A= | |
2 | g.47408503A>C | CA346729671 | MSH2 | c.314A>C (p.Asn105Thr) c.116A>C (p.Asn39Thr) n.386A>C n.376A>C | |
2 | g.47408503A>G | CA346729673 | MSH2 | c.314A>G (p.Asn105Ser) c.116A>G (p.Asn39Ser) n.386A>G n.376A>G | ClinVar dbSNP |
2 | g.47408503A>T | CA346729672 | MSH2 | c.314A>T (p.Asn105Ile) c.116A>T (p.Asn39Ile) n.386A>T n.376A>T | |
2 | g.47408504T>A | CA346729675 | MSH2 | c.315T>A (p.Asn105Lys) c.117T>A (p.Asn39Lys) n.387T>A n.377T>A | dbSNP |
2 | g.47408504T>C | CA037836 | MSH2 | c.315T>C (p.Asn105=) c.117T>C (p.Asn39=) n.387T>C n.377T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47408504T>G | CA346729677 | MSH2 | c.315T>G (p.Asn105Lys) c.117T>G (p.Asn39Lys) n.387T>G n.377T>G | dbSNP |
2 | g.47408504T= | CA2495830279 | MSH2 | c.315T= (p.Asn105=) c.117T= (p.Asn39=) n.387T= n.377T= | |
2 | g.47408505A= | CA2495830280 | MSH2 | c.316A= (p.Arg106=) c.118A= (p.Arg40=) n.388A= n.378A= | |
2 | g.47408505A>C | CA425965695 | MSH2 | c.316A>C (p.Arg106=) c.118A>C (p.Arg40=) n.388A>C n.378A>C | ClinVar dbSNP gnomAD v4 |
2 | g.47408505A>G | CA346729681 | MSH2 | c.316A>G (p.Arg106Gly) c.118A>G (p.Arg40Gly) n.388A>G n.378A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47408505A>T | CA346729683 | MSH2 | c.316A>T (p.Arg106Ter) c.118A>T (p.Arg40Ter) n.388A>T n.378A>T | |
2 | g.47408506G>A | CA021007 | MSH2 | c.317G>A (p.Arg106Lys) c.119G>A (p.Arg40Lys) n.389G>A n.379G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408506G>C | CA346729684 | MSH2 | c.317G>C (p.Arg106Thr) c.119G>C (p.Arg40Thr) n.389G>C n.379G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47408506G= | CA2495830281 | MSH2 | c.317G= (p.Arg106=) c.119G= (p.Arg40=) n.389G= n.379G= | |
2 | g.47408506G>T | CA346729685 | MSH2 | c.317G>T (p.Arg106Ile) c.119G>T (p.Arg40Ile) n.389G>T n.379G>T | |
2 | g.47408507A>C | CA346729687 | MSH2 | c.318A>C (p.Arg106Ser) c.120A>C (p.Arg40Ser) n.390A>C n.380A>C |