Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47401439_47411294del | CA331194 | ClinVar | ||
2 | g.47403280_47410368delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT | CA658760387 | MSH2 | c.89_641delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT c.-30-80_443delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT n.161_713delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT n.151_703delinsAATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATT | |
2 | g.47408402_47410373del | CA2581463448 | MSH2 | c.213_645+1del c.15_447+1del n.285_717+1del n.275_707+1del | |
2 | g.47409413_47411458del | CA331584 | MSH2 | c.367-681_646-956del c.169-681_448-956del n.439-681_718-956del n.429-681_708-956del | ClinVar |
2 | g.47409628_47411030del | CA331583 | MSH2 | c.367-466_645+658del c.169-466_447+658del n.439-466_717+658del n.429-466_707+658del | ClinVar |
2 | g.47409642_47411692del | CA331582 | MSH2 | c.367-452_646-722del c.169-452_448-722del n.439-452_718-722del n.429-452_708-722del | ClinVar |
2 | g.47409723_47411901del | CA331581 | MSH2 | c.367-371_646-513del c.169-371_448-513del n.439-371_718-513del n.429-371_708-513del | ClinVar |
2 | g.47410092_47411114del | CA2499216005 | MSH2 | c.367-2_645+742del c.169-2_447+742del n.439-2_717+742del n.429-2_707+742del | ClinVar |
2 | g.47410092_47410804del | CA2499216007 | MSH2 | c.367-2_645+432del c.169-2_447+432del n.439-2_717+432del n.429-2_707+432del | ClinVar dbSNP |
2 | g.47410091_47411003del | CA2499216006 | MSH2 | c.367-3_645+631del c.169-3_447+631del n.439-3_717+631del n.429-3_707+631del | ClinVar dbSNP |
2 | g.47410092_47410373del | CA2499216008 | MSH2 | c.367-2_645+1del c.169-2_447+1del n.439-2_717+1del n.429-2_707+1del | ClinVar dbSNP |
2 | g.47410095_47410373del | CA2581463443 | MSH2 | c.368_645+1del c.170_447+1del n.440_717+1del n.430_707+1del | |
2 | g.47410238_47410310dup | CA331612 | MSH2 | c.511_583dup (p.Gly195GlufsTer7) c.313_385dup (p.Gly129GlufsTer7) n.583_655dup n.573_645dup | ClinVar dbSNP |
2 | g.47410249_47410291delinsACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAG | CA2495831251 | MSH2 | c.522_564delinsACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAG (p.Gly174=) c.324_366delinsACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAG (p.Gly108=) n.594_636delinsACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAG n.584_626delinsACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAG | |
2 | g.47410250_47410291del | CA021295 | MSH2 | c.523_564del (p.Leu175_Glu188del) c.325_366del (p.Leu109_Glu122del) n.595_636del n.585_626del | dbSNP |
2 | g.47410273_47410291dup | CA46678168 | MSH2 | c.546_564dup (p.Ala189SerfsTer6) c.348_366dup (p.Ala123SerfsTer6) n.618_636dup n.608_626dup | dbSNP |
2 | g.47410278del | CA021375 | MSH2 | c.551del (p.Phe184SerfsTer30) c.353del (p.Phe118SerfsTer30) c.353del (p.Phe118SerfsTer?) n.623del n.613del | ClinVar dbSNP |
2 | g.47410278T>A | CA346730884 | MSH2 | c.551T>A (p.Phe184Tyr) c.353T>A (p.Phe118Tyr) n.623T>A n.613T>A | dbSNP gnomAD v4 |
2 | g.47410278T>C | CA346730885 | MSH2 | c.551T>C (p.Phe184Ser) c.353T>C (p.Phe118Ser) n.623T>C n.613T>C | dbSNP |
2 | g.47410278T>G | CA346730886 | MSH2 | c.551T>G (p.Phe184Cys) c.353T>G (p.Phe118Cys) n.623T>G n.613T>G | |
2 | g.47410279C>A | CA346730888 | MSH2 | c.552C>A (p.Phe184Leu) c.354C>A (p.Phe118Leu) n.624C>A n.614C>A | ClinVar dbSNP gnomAD v4 |
2 | g.47410279C= | CA2495831276 | MSH2 | c.552C= (p.Phe184=) c.354C= (p.Phe118=) n.624C= n.614C= | |
2 | g.47410279C>G | CA346730889 | MSH2 | c.552C>G (p.Phe184Leu) c.354C>G (p.Phe118Leu) n.624C>G n.614C>G | dbSNP gnomAD v4 |
2 | g.47410279C>T | CA021384 | MSH2 | c.552C>T (p.Phe184=) c.354C>T (p.Phe118=) n.624C>T n.614C>T | ClinVar dbSNP |
2 | g.47410280T>A | CA346730891 | MSH2 | c.553T>A (p.Ser185Thr) c.355T>A (p.Ser119Thr) n.625T>A n.615T>A | |
2 | g.47410280T>C | CA346730893 | MSH2 | c.553T>C (p.Ser185Pro) c.355T>C (p.Ser119Pro) n.625T>C n.615T>C | ClinVar |
2 | g.47410280T>G | CA346730892 | MSH2 | c.553T>G (p.Ser185Ala) c.355T>G (p.Ser119Ala) n.625T>G n.615T>G | |
2 | g.47410281C>A | CA346730896 | MSH2 | c.554C>A (p.Ser185Tyr) c.356C>A (p.Ser119Tyr) n.626C>A n.616C>A | ClinVar dbSNP |
2 | g.47410281C= | CA2495831277 | MSH2 | c.554C= (p.Ser185=) c.356C= (p.Ser119=) n.626C= n.616C= | |
2 | g.47410281C>G | CA346730898 | MSH2 | c.554C>G (p.Ser185Cys) c.356C>G (p.Ser119Cys) n.626C>G n.616C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410281C>T | CA10581997 | MSH2 | c.554C>T (p.Ser185Phe) c.356C>T (p.Ser119Phe) n.626C>T n.616C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47410282C>A | CA426119574 | MSH2 | c.555C>A (p.Ser185=) c.357C>A (p.Ser119=) n.627C>A n.617C>A | ClinVar dbSNP |
2 | g.47410282C>G | CA426119575 | MSH2 | c.555C>G (p.Ser185=) c.357C>G (p.Ser119=) n.627C>G n.617C>G | |
2 | g.47410282C>T | CA426119576 | MSH2 | c.555C>T (p.Ser185=) c.357C>T (p.Ser119=) n.627C>T n.617C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410283A= | CA2495831278 | MSH2 | c.556A= (p.Asn186=) c.358A= (p.Asn120=) n.628A= n.618A= | |
2 | g.47410283A>C | CA348416 | MSH2 | c.556A>C (p.Asn186His) c.358A>C (p.Asn120His) n.628A>C n.618A>C | ClinVar dbSNP |
2 | g.47410283A>G | CA039223 | MSH2 | c.556A>G (p.Asn186Asp) c.358A>G (p.Asn120Asp) n.628A>G n.618A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410283A>T | CA346730900 | MSH2 | c.556A>T (p.Asn186Tyr) c.358A>T (p.Asn120Tyr) n.628A>T n.618A>T | dbSNP |
2 | g.47410284A= | CA2495831280 | MSH2 | c.557A= (p.Asn186=) c.359A= (p.Asn120=) n.629A= n.619A= | |
2 | g.47410284A>C | CA346730902 | MSH2 | c.557A>C (p.Asn186Thr) c.359A>C (p.Asn120Thr) n.629A>C n.619A>C | ClinVar dbSNP |
2 | g.47410284A>G | CA021391 | MSH2 | c.557A>G (p.Asn186Ser) c.359A>G (p.Asn120Ser) n.629A>G n.619A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410284A>T | CA346730904 | MSH2 | c.557A>T (p.Asn186Ile) c.359A>T (p.Asn120Ile) n.629A>T n.619A>T | ClinVar |
2 | g.47410284_47410293delinsATCTTGAGGC | CA2495831279 | MSH2 | c.557_566delinsATCTTGAGGC (p.Asn186=) c.359_368delinsATCTTGAGGC (p.Asn120=) n.629_638delinsATCTTGAGGC n.619_628delinsATCTTGAGGC | |
2 | g.47410285T>A | CA346730906 | MSH2 | c.558T>A (p.Asn186Lys) c.360T>A (p.Asn120Lys) n.630T>A n.620T>A | dbSNP |
2 | g.47410285T>C | CA426119579 | MSH2 | c.558T>C (p.Asn186=) c.360T>C (p.Asn120=) n.630T>C n.620T>C | |
2 | g.47410285T>G | CA346730907 | MSH2 | c.558T>G (p.Asn186Lys) c.360T>G (p.Asn120Lys) n.630T>G n.620T>G | |
2 | g.47410288_47410296del | CA021421 | MSH2 | c.561_569del (p.Glu188_Leu190del) c.363_371del (p.Glu122_Leu124del) n.633_641del n.623_631del | ClinVar dbSNP |
2 | g.47410286C>A | CA346730911 | MSH2 | c.559C>A (p.Leu187Ile) c.361C>A (p.Leu121Ile) n.631C>A n.621C>A | ClinVar dbSNP |
2 | g.47410286C= | CA2495831281 | MSH2 | c.559C= (p.Leu187=) c.361C= (p.Leu121=) n.631C= n.621C= | |
2 | g.47410286C>G | CA039245 | MSH2 | c.559C>G (p.Leu187Val) c.361C>G (p.Leu121Val) n.631C>G n.621C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |