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.47408384_47408403delinsCTTTTTTTTTTTTTAAGGAG | CA2495830005 | MSH2 | c.212-17_214delinsCTTTTTTTTTTTTTAAGGAG c.14-17_16delinsCTTTTTTTTTTTTTAAGGAG n.284-17_286delinsCTTTTTTTTTTTTTAAGGAG n.274-17_276delinsCTTTTTTTTTTTTTAAGGAG | |
2 | g.47408385_47408403del | CA1139656928 | MSH2 | c.212-16_214del c.14-16_16del n.284-16_286del n.274-16_276del | ClinVar dbSNP |
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.47408397_47408402delinsTAAGGA | CA2495830057 | MSH2 | c.212-4_213delinsTAAGGA c.14-4_15delinsTAAGGA n.284-4_285delinsTAAGGA n.274-4_275delinsTAAGGA | |
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.47408399dup | CA2580067390 | MSH2 | c.212-2dup (n.212-2dup) c.14-2dup (n.14-2dup) n.284-2dup n.274-2dup | ClinVar gnomAD v4 |
2 | g.47408399del | CA16610773 | MSH2 | c.212-2del (n.212-2del) c.14-2del (n.14-2del) n.284-2del n.274-2del | ClinVar dbSNP gnomAD v4 |
2 | g.47408398_47408400del | CA2658945781 | MSH2 | c.212-3_212-1del (n.212-3_212-1del) c.14-3_14-1del (n.14-3_14-1del) n.284-3_284-1del n.274-3_274-1del | gnomAD v4 |
2 | g.47408398_47408401delinsAAGG | CA2495830075 | MSH2 | c.212-3_212delinsAAGG c.14-3_14delinsAAGG n.284-3_284delinsAAGG n.274-3_274delinsAAGG | |
2 | g.47408398_47408402del | CA915943879 | MSH2 | c.212-3_213del c.14-3_15del n.284-3_285del n.274-3_275del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47408399_47408402del | CA1030269389 | MSH2 | c.212-2_213del c.14-2_15del n.284-2_285del n.274-2_275del | gnomAD v3 gnomAD v4 |
2 | g.47408398_47408403del | CA1030269390 | MSH2 | c.212-3_214del c.14-3_16del n.284-3_286del n.274-3_276del | gnomAD v3 gnomAD v4 |
2 | g.47408400_47408406del | CA2658945783 | MSH2 | c.212-1_217del c.14-1_19del n.284-1_289del n.274-1_279del | gnomAD v4 |
2 | g.47408401_47408408del | CA1139656929 | MSH2 | c.212_219del c.14_21del n.284_291del n.274_281del | |
2 | g.47408399A= | CA2495830086 | MSH2 | c.212-2A= (n.212-2A=) c.14-2A= (n.14-2A=) n.284-2A= n.274-2A= | |
2 | g.47408399A>C | CA346729446 | MSH2 | c.212-2A>C (n.212-2A>C) c.14-2A>C (n.14-2A>C) n.284-2A>C n.274-2A>C | ClinVar dbSNP |
2 | g.47408399A>G | CA020085 | MSH2 | c.212-2A>G (n.212-2A>G) c.14-2A>G (n.14-2A>G) n.284-2A>G n.274-2A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47408399A>T | CA346729447 | MSH2 | c.212-2A>T (n.212-2A>T) c.14-2A>T (n.14-2A>T) n.284-2A>T n.274-2A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47408399_47408400delinsAG | CA2495830081 | MSH2 | c.212-2_212-1delinsAG (n.212-2_212-1delinsAG) c.14-2_14-1delinsAG (n.14-2_14-1delinsAG) n.284-2_284-1delinsAG n.274-2_274-1delinsAG | |
2 | g.47408401_47408403del | CA1649251 | MSH2 | c.212_214del c.14_16del n.284_286del n.274_276del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408399_47408410delinsAGGAGCAAAGAA | CA2495830083 | MSH2 | c.212-2_221delinsAGGAGCAAAGAA c.14-2_23delinsAGGAGCAAAGAA n.284-2_293delinsAGGAGCAAAGAA n.274-2_283delinsAGGAGCAAAGAA | |
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.47408400G>A | CA020080 | MSH2 | c.212-1G>A (n.212-1G>A) c.14-1G>A (n.14-1G>A) n.284-1G>A n.274-1G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47408400G>C | CA346729449 | MSH2 | c.212-1G>C (n.212-1G>C) c.14-1G>C (n.14-1G>C) n.284-1G>C n.274-1G>C | dbSNP |
2 | g.47408400G= | CA2495830101 | MSH2 | c.212-1G= (n.212-1G=) c.14-1G= (n.14-1G=) n.284-1G= n.274-1G= | |
2 | g.47408400G>T | CA346729448 | MSH2 | c.212-1G>T (n.212-1G>T) c.14-1G>T (n.14-1G>T) n.284-1G>T n.274-1G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47408401del | CA1139656930 | MSH2 | c.212del c.14del n.284del n.274del | ClinVar dbSNP |
2 | g.47408400_47408410delinsCAC | CA10577925 | MSH2 | c.212-1_221delinsCAC c.14-1_23delinsCAC n.284-1_293delinsCAC n.274-1_283delinsCAC | ClinVar dbSNP |
2 | g.47408400_47408454dup | CA2699268416 | MSH2 | c.212-1_265dup c.14-1_67dup n.284-1_337dup n.274-1_327dup | dbSNP |
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.47408401G>A | CA16617553 | MSH2 | c.212G>A (p.Gly71Glu) c.14G>A (p.Gly5Glu) n.284G>A n.274G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47408401G>C | CA346729450 | MSH2 | c.212G>C (p.Gly71Ala) c.14G>C (p.Gly5Ala) n.284G>C n.274G>C | dbSNP |
2 | g.47408401G= | CA2495830107 | MSH2 | c.212G= (p.Gly71=) c.14G= (p.Gly5=) n.284G= n.274G= | |
2 | g.47408401G>T | CA346729451 | MSH2 | c.212G>T (p.Gly71Val) c.14G>T (p.Gly5Val) n.284G>T n.274G>T | dbSNP gnomAD v4 COSMIC |
2 | g.47408402_47408419del | CA645531408 | MSH2 | c.213_230del (p.Ala72_Ser77del) c.15_32del (p.Ala6_Ser11del) n.285_302del n.275_292del | COSMIC |
2 | g.47408401_47408402insTTTT | CA1030269445 | MSH2 | c.212_213insTTTT (p.Ala72PhefsTer11) c.14_15insTTTT (p.Ala6PhefsTer11) n.284_285insTTTT n.274_275insTTTT | gnomAD v3 gnomAD v4 |
2 | g.47408402A= | CA2495830111 | MSH2 | c.213A= (p.Gly71=) c.15A= (p.Gly5=) n.285A= n.275A= | |
2 | g.47408402A>C | CA425965638 | MSH2 | c.213A>C (p.Gly71=) c.15A>C (p.Gly5=) n.285A>C n.275A>C | |
2 | g.47408402A>G | CA10581992 | MSH2 | c.213A>G (p.Gly71=) c.15A>G (p.Gly5=) n.285A>G n.275A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47408402A>T | CA425965639 | MSH2 | c.213A>T (p.Gly71=) c.15A>T (p.Gly5=) n.285A>T n.275A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47408402_47408413delinsAGCAAAGAATCT | CA2495830114 | MSH2 | c.213_224delinsAGCAAAGAATCT (p.Gly71=) c.15_26delinsAGCAAAGAATCT (p.Gly5=) n.285_296delinsAGCAAAGAATCT n.275_286delinsAGCAAAGAATCT | |
2 | g.47408402_47408403insTTTTT | CA1030269458 | MSH2 | c.213_214insTTTTT (p.Ala72PhefsTer14) c.15_16insTTTTT (p.Ala6PhefsTer14) n.285_286insTTTTT n.275_276insTTTTT | gnomAD v3 gnomAD v4 |
2 | g.47408403G>A | CA346729453 | MSH2 | c.214G>A (p.Ala72Thr) c.16G>A (p.Ala6Thr) n.286G>A n.276G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47408403G>C | CA346729454 | MSH2 | c.214G>C (p.Ala72Pro) c.16G>C (p.Ala6Pro) n.286G>C n.276G>C | dbSNP |