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.47408458_47408479dup | CA251947 | MSH2 | c.269_290dup (p.Tyr98ArgfsTer9) c.71_92dup (p.Tyr32ArgfsTer9) n.341_362dup n.331_352dup | ClinVar dbSNP |
2 | g.47408468_47408470dup | CA645531409 | MSH2 | c.279_281dup (p.Leu94_Val95insLeu) c.81_83dup (p.Leu28_Val29insLeu) n.351_353dup n.341_343dup | dbSNP COSMIC |
2 | g.47408468_47408470del | CA020948 | MSH2 | c.279_281del (p.Leu94del) c.81_83del (p.Leu28del) n.351_353del n.341_343del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408466C>A | CA346729583 | MSH2 | c.277C>A (p.Leu93Ile) c.79C>A (p.Leu27Ile) n.349C>A n.339C>A | dbSNP |
2 | g.47408466C= | CA2495830244 | MSH2 | c.277C= (p.Leu93=) c.79C= (p.Leu27=) n.349C= n.339C= | |
2 | g.47408466C>G | CA346729584 | MSH2 | c.277C>G (p.Leu93Val) c.79C>G (p.Leu27Val) n.349C>G n.339C>G | ClinVar dbSNP |
2 | g.47408466C>T | CA020925 | MSH2 | c.277C>T (p.Leu93Phe) c.79C>T (p.Leu27Phe) n.349C>T n.339C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47408466_47408468delinsCTT | CA2495830245 | MSH2 | c.277_279delinsCTT (p.Leu93=) c.79_81delinsCTT (p.Leu27=) n.349_351delinsCTT n.339_341delinsCTT | |
2 | g.47408467T>A | CA346729585 | MSH2 | c.278T>A (p.Leu93His) c.80T>A (p.Leu27His) n.350T>A n.340T>A | |
2 | g.47408467T>C | CA46672800 | MSH2 | c.278T>C (p.Leu93Pro) c.80T>C (p.Leu27Pro) n.350T>C n.340T>C | dbSNP |
2 | g.47408467T>G | CA346729586 | MSH2 | c.278T>G (p.Leu93Arg) c.80T>G (p.Leu27Arg) n.350T>G n.340T>G | |
2 | g.47408467T= | CA2495830246 | MSH2 | c.278T= (p.Leu93=) c.80T= (p.Leu27=) n.350T= n.340T= | |
2 | g.47408467_47408468del | CA020927 | MSH2 | c.278_279del (p.Leu93ProfsTer6) c.80_81del (p.Leu27ProfsTer6) n.350_351del n.340_341del | ClinVar dbSNP |
2 | g.47408468T>A | CA425965671 | MSH2 | c.279T>A (p.Leu93=) c.81T>A (p.Leu27=) n.351T>A n.341T>A | |
2 | g.47408468T>C | CA425965672 | MSH2 | c.279T>C (p.Leu93=) c.81T>C (p.Leu27=) n.351T>C n.341T>C | |
2 | g.47408468T>G | CA425965673 | MSH2 | c.279T>G (p.Leu93=) c.81T>G (p.Leu27=) n.351T>G n.341T>G | |
2 | g.47408468_47408469delinsCT | CA46672814 | MSH2 | c.279_280delinsCT (p.Leu93=) c.81_82delinsCT (p.Leu27=) n.351_352delinsCT n.341_342delinsCT | |
2 | g.47408469del | CA2580067425 | MSH2 | c.280del (p.Leu94TrpfsTer?) c.82del (p.Leu28TrpfsTer?) n.352del n.342del | ClinVar |
2 | g.47408469C>A | CA346729587 | MSH2 | c.280C>A (p.Leu94Met) c.82C>A (p.Leu28Met) n.352C>A n.342C>A | dbSNP |
2 | g.47408469C= | CA2495830247 | MSH2 | c.280C= (p.Leu94=) c.82C= (p.Leu28=) n.352C= n.342C= | |
2 | g.47408469C>G | CA346729588 | MSH2 | c.280C>G (p.Leu94Val) c.82C>G (p.Leu28Val) n.352C>G n.342C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47408469C>T | CA425965674 | MSH2 | c.280C>T (p.Leu94=) c.82C>T (p.Leu28=) n.352C>T n.342C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47408469_47408470insG | CA2695200767 | MSH2 | c.280_281insG (p.Leu94ArgfsTer6) c.82_83insG (p.Leu28ArgfsTer6) n.352_353insG n.342_343insG | ClinVar |
2 | g.47408470T>A | CA346729589 | MSH2 | c.281T>A (p.Leu94Gln) c.83T>A (p.Leu28Gln) n.353T>A n.343T>A | |
2 | g.47408470T>C | CA346729590 | MSH2 | c.281T>C (p.Leu94Pro) c.83T>C (p.Leu28Pro) n.353T>C n.343T>C | ClinVar |
2 | g.47408470T>G | CA346729591 | MSH2 | c.281T>G (p.Leu94Arg) c.83T>G (p.Leu28Arg) n.353T>G n.343T>G | ClinVar |
2 | g.47408470_47408471insTTT | CA2586969088 | MSH2 | c.281_282insTTT (p.Leu94_Val95insLeu) c.83_84insTTT (p.Leu28_Val29insLeu) n.353_354insTTT n.343_344insTTT | |
2 | g.47408471G>A | CA037693 | MSH2 | c.282G>A (p.Leu94=) c.84G>A (p.Leu28=) n.354G>A n.344G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47408471G>C | CA425965676 | MSH2 | c.282G>C (p.Leu94=) c.84G>C (p.Leu28=) n.354G>C n.344G>C | ClinVar dbSNP |
2 | g.47408471G= | CA2495830248 | MSH2 | c.282G= (p.Leu94=) c.84G= (p.Leu28=) n.354G= n.344G= | |
2 | g.47408471G>T | CA425965675 | MSH2 | c.282G>T (p.Leu94=) c.84G>T (p.Leu28=) n.354G>T n.344G>T | dbSNP |
2 | g.47408472dup | CA2695200768 | MSH2 | c.283dup (p.Val95GlyfsTer5) c.85dup (p.Val29GlyfsTer5) n.355dup n.345dup | ClinVar |
2 | g.47408472G>A | CA346729594 | MSH2 | c.283G>A (p.Val95Ile) c.85G>A (p.Val29Ile) n.355G>A n.345G>A | ClinVar dbSNP |
2 | g.47408472G>C | CA346729592 | MSH2 | c.283G>C (p.Val95Leu) c.85G>C (p.Val29Leu) n.355G>C n.345G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47408472G= | CA2495830249 | MSH2 | c.283G= (p.Val95=) c.85G= (p.Val29=) n.355G= n.345G= | |
2 | g.47408472G>T | CA346729593 | MSH2 | c.283G>T (p.Val95Phe) c.85G>T (p.Val29Phe) n.355G>T n.345G>T | dbSNP gnomAD v4 |
2 | g.47408473T>A | CA346729595 | MSH2 | c.284T>A (p.Val95Asp) c.86T>A (p.Val29Asp) n.356T>A n.346T>A | dbSNP |
2 | g.47408473T>C | CA346729596 | MSH2 | c.284T>C (p.Val95Ala) c.86T>C (p.Val29Ala) n.356T>C n.346T>C | ClinVar dbSNP |
2 | g.47408473T>G | CA346729597 | MSH2 | c.284T>G (p.Val95Gly) c.86T>G (p.Val29Gly) n.356T>G n.346T>G | |
2 | g.47408474dup | CA2580067429 | MSH2 | c.285dup (p.Arg96SerfsTer4) c.87dup (p.Arg30SerfsTer4) n.357dup n.347dup | ClinVar |