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.47409567_47410219delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG | CA2495830775 | MSH2 | c.367-527_492delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG c.169-527_294delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG n.439-527_564delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG n.429-527_554delinsTTGGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGG | |
2 | g.47409569_47410220del | CA658795727 | MSH2 | c.367-525_493del c.169-525_295del n.439-525_565del n.429-525_555del | ClinVar dbSNP |
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.47410169_47410181delinsGTGGGTGTTAAAA | CA2495831179 | MSH2 | c.442_454delinsGTGGGTGTTAAAA (p.Val148=) c.244_256delinsGTGGGTGTTAAAA (p.Val82=) n.514_526delinsGTGGGTGTTAAAA n.504_516delinsGTGGGTGTTAAAA | |
2 | g.47410172_47410183del | CA645369181 | MSH2 | c.445_456del (p.Gly149_Met152del) c.247_258del (p.Gly83_Met86del) n.517_528del n.507_518del | ClinVar dbSNP |
2 | g.47410175_47410179del | CA2695200737 | MSH2 | c.448_452del (p.Val150AsnfsTer5) c.250_254del (p.Val84AsnfsTer5) n.520_524del n.510_514del | ClinVar |
2 | g.47410177_47410178delinsTA | CA2495831187 | MSH2 | c.450_451delinsTA (p.Val150=) c.252_253delinsTA (p.Val84=) n.522_523delinsTA n.512_513delinsTA | |
2 | g.47410178A= | CA2495831188 | MSH2 | c.451A= (p.Lys151=) c.253A= (p.Lys85=) n.523A= n.513A= | |
2 | g.47410178A>C | CA346730489 | MSH2 | c.451A>C (p.Lys151Gln) c.253A>C (p.Lys85Gln) n.523A>C n.513A>C | |
2 | g.47410178A>G | CA346730490 | MSH2 | c.451A>G (p.Lys151Glu) c.253A>G (p.Lys85Glu) n.523A>G n.513A>G | dbSNP |
2 | g.47410178A>T | CA346730488 | MSH2 | c.451A>T (p.Lys151Ter) c.253A>T (p.Lys85Ter) n.523A>T n.513A>T | dbSNP |
2 | g.47410181dup | CA658683186 | MSH2 | c.454dup (p.Met152AsnfsTer5) c.256dup (p.Met86AsnfsTer5) n.526dup n.516dup | ClinVar dbSNP |
2 | g.47410181del | CA021176 | MSH2 | c.454del (p.Met152CysfsTer22) c.256del (p.Met86CysfsTer22) n.526del n.516del | ClinVar dbSNP |
2 | g.47410180_47410181del | CA2586969166 | MSH2 | c.453_454del (p.Lys151AsnfsTer5) c.255_256del (p.Lys85AsnfsTer5) n.525_526del n.515_516del | |
2 | g.47410179A= | CA2495831189 | MSH2 | c.452A= (p.Lys151=) c.254A= (p.Lys85=) n.524A= n.514A= | |
2 | g.47410179A>C | CA346730491 | MSH2 | c.452A>C (p.Lys151Thr) c.254A>C (p.Lys85Thr) n.524A>C n.514A>C | ClinVar dbSNP |
2 | g.47410179A>G | CA346730492 | MSH2 | c.452A>G (p.Lys151Arg) c.254A>G (p.Lys85Arg) n.524A>G n.514A>G | dbSNP gnomAD v4 |
2 | g.47410179A>T | CA346730493 | MSH2 | c.452A>T (p.Lys151Ile) c.254A>T (p.Lys85Ile) n.524A>T n.514A>T | dbSNP |
2 | g.47410180A>C | CA346730494 | MSH2 | c.453A>C (p.Lys151Asn) c.255A>C (p.Lys85Asn) n.525A>C n.515A>C | dbSNP |
2 | g.47410180A>G | CA426119493 | MSH2 | c.453A>G (p.Lys151=) c.255A>G (p.Lys85=) n.525A>G n.515A>G | ClinVar |
2 | g.47410180A>T | CA346730495 | MSH2 | c.453A>T (p.Lys151Asn) c.255A>T (p.Lys85Asn) n.525A>T n.515A>T | dbSNP |
2 | g.47410181A>C | CA346730496 | MSH2 | c.454A>C (p.Met152Leu) c.256A>C (p.Met86Leu) n.526A>C n.516A>C | dbSNP |
2 | g.47410181A>G | CA346730497 | MSH2 | c.454A>G (p.Met152Val) c.256A>G (p.Met86Val) n.526A>G n.516A>G | |
2 | g.47410181A>T | CA346730498 | MSH2 | c.454A>T (p.Met152Leu) c.256A>T (p.Met86Leu) n.526A>T n.516A>T | |
2 | g.47410182T>A | CA346730499 | MSH2 | c.455T>A (p.Met152Lys) c.257T>A (p.Met86Lys) n.527T>A n.517T>A | dbSNP |
2 | g.47410182T>C | CA346730500 | MSH2 | c.455T>C (p.Met152Thr) c.257T>C (p.Met86Thr) n.527T>C n.517T>C | |
2 | g.47410182T>G | CA346730501 | MSH2 | c.455T>G (p.Met152Arg) c.257T>G (p.Met86Arg) n.527T>G n.517T>G | dbSNP |
2 | g.47410183G>A | CA346730504 | MSH2 | c.456G>A (p.Met152Ile) c.258G>A (p.Met86Ile) n.528G>A n.518G>A | ClinVar dbSNP |
2 | g.47410183G>C | CA346730503 | MSH2 | c.456G>C (p.Met152Ile) c.258G>C (p.Met86Ile) n.528G>C n.518G>C | dbSNP |
2 | g.47410183G= | CA2495831190 | MSH2 | c.456G= (p.Met152=) c.258G= (p.Met86=) n.528G= n.518G= | |
2 | g.47410183G>T | CA346730502 | MSH2 | c.456G>T (p.Met152Ile) c.258G>T (p.Met86Ile) n.528G>T n.518G>T | |
2 | g.47410184T>A | CA346730505 | MSH2 | c.457T>A (p.Ser153Thr) c.259T>A (p.Ser87Thr) n.529T>A n.519T>A | |
2 | g.47410184T>C | CA346730507 | MSH2 | c.457T>C (p.Ser153Pro) c.259T>C (p.Ser87Pro) n.529T>C n.519T>C | ClinVar |
2 | g.47410184T>G | CA346730508 | MSH2 | c.457T>G (p.Ser153Ala) c.259T>G (p.Ser87Ala) n.529T>G n.519T>G | ClinVar |
2 | g.47410185C>A | CA346730510 | MSH2 | c.458C>A (p.Ser153Tyr) c.260C>A (p.Ser87Tyr) n.530C>A n.520C>A | dbSNP |
2 | g.47410185C= | CA2495831191 | MSH2 | c.458C= (p.Ser153=) c.260C= (p.Ser87=) n.530C= n.520C= | |
2 | g.47410185C>G | CA038814 | MSH2 | c.458C>G (p.Ser153Cys) c.260C>G (p.Ser87Cys) n.530C>G n.520C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410185C>T | CA346730512 | MSH2 | c.458C>T (p.Ser153Phe) c.260C>T (p.Ser87Phe) n.530C>T n.520C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410186del | CA2499216010 | MSH2 | c.459del (p.Ala154GlnfsTer20) c.261del (p.Ala88GlnfsTer20) n.531del n.521del | ClinVar dbSNP |