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.47410103_47410112delinsCA | CA2580067497 | MSH2 | c.376_385delinsCA (p.Gly126HisfsTer4) c.178_187delinsCA (p.Gly60HisfsTer4) n.448_457delinsCA n.438_447delinsCA | ClinVar |
2 | g.47410105C>A | CA426119413 | MSH2 | c.378C>A (p.Gly126=) c.180C>A (p.Gly60=) n.450C>A n.440C>A | dbSNP |
2 | g.47410105C= | CA2495831123 | MSH2 | c.378C= (p.Gly126=) c.180C= (p.Gly60=) n.450C= n.440C= | |
2 | g.47410105C>G | CA426119415 | MSH2 | c.378C>G (p.Gly126=) c.180C>G (p.Gly60=) n.450C>G n.440C>G | dbSNP |
2 | g.47410105C>T | CA426119416 | MSH2 | c.378C>T (p.Gly126=) c.180C>T (p.Gly60=) n.450C>T n.440C>T | dbSNP |
2 | g.47410106A>C | CA346730349 | MSH2 | c.379A>C (p.Asn127His) c.181A>C (p.Asn61His) n.451A>C n.441A>C | |
2 | g.47410106A>G | CA346730350 | MSH2 | c.379A>G (p.Asn127Asp) c.181A>G (p.Asn61Asp) n.451A>G n.441A>G | ClinVar gnomAD v4 |
2 | g.47410106A>T | CA346730351 | MSH2 | c.379A>T (p.Asn127Tyr) c.181A>T (p.Asn61Tyr) n.451A>T n.441A>T | ClinVar dbSNP |
2 | g.47410106_47410107del | CA2580067502 | MSH2 | c.379_380del (p.Asn127SerfsTer5) c.181_182del (p.Asn61SerfsTer5) n.451_452del n.441_442del | ClinVar |
2 | g.47410107dup | CA913189517 | MSH2 | c.380dup (p.Asn127LysfsTer6) c.182dup (p.Asn61LysfsTer6) n.452dup n.442dup | ClinVar dbSNP |
2 | g.47410107del | CA2580067501 | MSH2 | c.380del (p.Asn127IlefsTer?) c.182del (p.Asn61IlefsTer?) n.452del n.442del | ClinVar |
2 | g.47410106_47410108delinsAAT | CA2495831124 | MSH2 | c.379_381delinsAAT (p.Asn127=) c.181_183delinsAAT (p.Asn61=) n.451_453delinsAAT n.441_443delinsAAT | |
2 | g.47410107A= | CA2495831126 | MSH2 | c.380A= (p.Asn127=) c.182A= (p.Asn61=) n.452A= n.442A= | |
2 | g.47410107A>C | CA346730352 | MSH2 | c.380A>C (p.Asn127Thr) c.182A>C (p.Asn61Thr) n.452A>C n.442A>C | ClinVar dbSNP |
2 | g.47410107A>G | CA021092 | MSH2 | c.380A>G (p.Asn127Ser) c.182A>G (p.Asn61Ser) n.452A>G n.442A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410107A>T | CA021096 | MSH2 | c.380A>T (p.Asn127Ile) c.182A>T (p.Asn61Ile) n.452A>T n.442A>T | dbSNP |
2 | g.47410107_47410108del | CA021090 | MSH2 | c.380_381del (p.Asn127ThrfsTer5) c.182_183del (p.Asn61ThrfsTer5) n.452_453del n.442_443del | ClinVar dbSNP |
2 | g.47410107_47410109delinsATC | CA2495831125 | MSH2 | c.380_382delinsATC (p.Asn127=) c.182_184delinsATC (p.Asn61=) n.452_454delinsATC n.442_444delinsATC | |
2 | g.47410108T>A | CA346730353 | MSH2 | c.381T>A (p.Asn127Lys) c.183T>A (p.Asn61Lys) n.453T>A n.443T>A | dbSNP |
2 | g.47410108T>C | CA426119418 | MSH2 | c.381T>C (p.Asn127=) c.183T>C (p.Asn61=) n.453T>C n.443T>C | ClinVar dbSNP |
2 | g.47410108T>G | CA346730354 | MSH2 | c.381T>G (p.Asn127Lys) c.183T>G (p.Asn61Lys) n.453T>G n.443T>G | dbSNP |
2 | g.47410114_47410115del | CA021112 | MSH2 | c.387_388del (p.Gln130ValfsTer2) c.189_190del (p.Gln64ValfsTer2) n.459_460del n.449_450del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47410112_47410115del | CA658760498 | MSH2 | c.385_388del (p.Gln130LeufsTer?) c.187_190del (p.Gln64LeufsTer?) n.457_460del n.447_450del | ClinVar |
2 | g.47410109C>A | CA346730355 | MSH2 | c.382C>A (p.Leu128Ile) c.184C>A (p.Leu62Ile) n.454C>A n.444C>A | dbSNP gnomAD v4 |
2 | g.47410109C= | CA2495831127 | MSH2 | c.382C= (p.Leu128=) c.184C= (p.Leu62=) n.454C= n.444C= | |
2 | g.47410109C>G | CA021100 | MSH2 | c.382C>G (p.Leu128Val) c.184C>G (p.Leu62Val) n.454C>G n.444C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410109C>T | CA346730356 | MSH2 | c.382C>T (p.Leu128Phe) c.184C>T (p.Leu62Phe) n.454C>T n.444C>T | dbSNP |
2 | g.47410110T>A | CA346730357 | MSH2 | c.383T>A (p.Leu128His) c.185T>A (p.Leu62His) n.455T>A n.445T>A | dbSNP |
2 | g.47410110T>C | CA346730358 | MSH2 | c.383T>C (p.Leu128Pro) c.185T>C (p.Leu62Pro) n.455T>C n.445T>C | ClinVar |
2 | g.47410110T>G | CA021103 | MSH2 | c.383T>G (p.Leu128Arg) c.185T>G (p.Leu62Arg) n.455T>G n.445T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410110T= | CA2495831128 | MSH2 | c.383T= (p.Leu128=) c.185T= (p.Leu62=) n.455T= n.445T= | |
2 | g.47410111C>A | CA10577936 | MSH2 | c.384C>A (p.Leu128=) c.186C>A (p.Leu62=) n.456C>A n.446C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47410111C= | CA2495831129 | MSH2 | c.384C= (p.Leu128=) c.186C= (p.Leu62=) n.456C= n.446C= | |
2 | g.47410111C>G | CA038413 | MSH2 | c.384C>G (p.Leu128=) c.186C>G (p.Leu62=) n.456C>G n.446C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410111C>T | CA426119419 | MSH2 | c.384C>T (p.Leu128=) c.186C>T (p.Leu62=) n.456C>T n.446C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410112T>A | CA346730361 | MSH2 | c.385T>A (p.Ser129Thr) c.187T>A (p.Ser63Thr) n.457T>A n.447T>A | dbSNP |
2 | g.47410112T>C | CA346730359 | MSH2 | c.385T>C (p.Ser129Pro) c.187T>C (p.Ser63Pro) n.457T>C n.447T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410112T>G | CA346730360 | MSH2 | c.385T>G (p.Ser129Ala) c.187T>G (p.Ser63Ala) n.457T>G n.447T>G | |
2 | g.47410112T= | CA2495831130 | MSH2 | c.385T= (p.Ser129=) c.187T= (p.Ser63=) n.457T= n.447T= | |
2 | g.47410113C>A | CA346730362 | MSH2 | c.386C>A (p.Ser129Tyr) c.188C>A (p.Ser63Tyr) n.458C>A n.448C>A | |
2 | g.47410113C= | CA2495831131 | MSH2 | c.386C= (p.Ser129=) c.188C= (p.Ser63=) n.458C= n.448C= | |
2 | g.47410113C>G | CA021106 | MSH2 | c.386C>G (p.Ser129Cys) c.188C>G (p.Ser63Cys) n.458C>G n.448C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47410113C>T | CA021109 | MSH2 | c.386C>T (p.Ser129Phe) c.188C>T (p.Ser63Phe) n.458C>T n.448C>T | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.47410114T>A | CA426119427 | MSH2 | c.387T>A (p.Ser129=) c.189T>A (p.Ser63=) n.459T>A n.449T>A | |
2 | g.47410114T>C | CA426119423 | MSH2 | c.387T>C (p.Ser129=) c.189T>C (p.Ser63=) n.459T>C n.449T>C | |
2 | g.47410114T>G | CA426119425 | MSH2 | c.387T>G (p.Ser129=) c.189T>G (p.Ser63=) n.459T>G n.449T>G | |
2 | g.47410114_47410116delinsTCA | CA2495831132 | MSH2 | c.387_389delinsTCA (p.Ser129=) c.189_191delinsTCA (p.Ser63=) n.459_461delinsTCA n.449_451delinsTCA | |
2 | g.47410115C>A | CA346730364 | MSH2 | c.388C>A (p.Gln130Lys) c.190C>A (p.Gln64Lys) n.460C>A n.450C>A | |
2 | g.47410115C= | CA2495831133 | MSH2 | c.388C= (p.Gln130=) c.190C= (p.Gln64=) n.460C= n.450C= | |
2 | g.47410115C>G | CA346730363 | MSH2 | c.388C>G (p.Gln130Glu) c.190C>G (p.Gln64Glu) n.460C>G n.450C>G | ClinVar dbSNP |
2 | g.47410115C>T | CA16610998 | MSH2 | c.388C>T (p.Gln130Ter) c.190C>T (p.Gln64Ter) n.460C>T n.450C>T | ClinVar dbSNP |
2 | g.47410115_47410116del | CA021115 | MSH2 | c.388_389del (p.Gln130ValfsTer2) c.190_191del (p.Gln64ValfsTer2) n.460_461del n.450_451del | ClinVar dbSNP gnomAD v4 |
2 | g.47410116A>C | CA346730365 | MSH2 | c.389A>C (p.Gln130Pro) c.191A>C (p.Gln64Pro) n.461A>C n.451A>C | |
2 | g.47410116A>G | CA346730366 | MSH2 | c.389A>G (p.Gln130Arg) c.191A>G (p.Gln64Arg) n.461A>G n.451A>G | ClinVar |
2 | g.47410116A>T | CA346730367 | MSH2 | c.389A>T (p.Gln130Leu) c.191A>T (p.Gln64Leu) n.461A>T n.451A>T | dbSNP |
2 | g.47410117G>A | CA426119428 | MSH2 | c.390G>A (p.Gln130=) c.192G>A (p.Gln64=) n.462G>A n.452G>A | dbSNP |
2 | g.47410117G>C | CA346730368 | MSH2 | c.390G>C (p.Gln130His) c.192G>C (p.Gln64His) n.462G>C n.452G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410117G= | CA2495831134 | MSH2 | c.390G= (p.Gln130=) c.192G= (p.Gln64=) n.462G= n.452G= | |
2 | g.47410117G>T | CA346730369 | MSH2 | c.390G>T (p.Gln130His) c.192G>T (p.Gln64His) n.462G>T n.452G>T | ClinVar dbSNP |
2 | g.47410118T>A | CA346730370 | MSH2 | c.391T>A (p.Phe131Ile) c.193T>A (p.Phe65Ile) n.463T>A n.453T>A | dbSNP |
2 | g.47410118T>C | CA346730371 | MSH2 | c.391T>C (p.Phe131Leu) c.193T>C (p.Phe65Leu) n.463T>C n.453T>C | dbSNP |
2 | g.47410118T>G | CA038462 | MSH2 | c.391T>G (p.Phe131Val) c.193T>G (p.Phe65Val) n.463T>G n.453T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410118T= | CA2495831135 | MSH2 | c.391T= (p.Phe131=) c.193T= (p.Phe65=) n.463T= n.453T= | |
2 | g.47410120_47410162dup | CA2580067507 | MSH2 | c.393_435dup (p.Gly146Ter) c.195_237dup (p.Gly80Ter) n.465_507dup n.455_497dup | ClinVar |
2 | g.47410119T>A | CA346730372 | MSH2 | c.392T>A (p.Phe131Tyr) c.194T>A (p.Phe65Tyr) n.464T>A n.454T>A | dbSNP |
2 | g.47410119T>C | CA346730374 | MSH2 | c.392T>C (p.Phe131Ser) c.194T>C (p.Phe65Ser) n.464T>C n.454T>C | ClinVar |
2 | g.47410119T>G | CA346730373 | MSH2 | c.392T>G (p.Phe131Cys) c.194T>G (p.Phe65Cys) n.464T>G n.454T>G | |
2 | g.47410120T>A | CA346730375 | MSH2 | c.393T>A (p.Phe131Leu) c.195T>A (p.Phe65Leu) n.465T>A n.455T>A | |
2 | g.47410120T>C | CA426119430 | MSH2 | c.393T>C (p.Phe131=) c.195T>C (p.Phe65=) n.465T>C n.455T>C | |
2 | g.47410120T>G | CA346730376 | MSH2 | c.393T>G (p.Phe131Leu) c.195T>G (p.Phe65Leu) n.465T>G n.455T>G | |
2 | g.47410121G>A | CA346730377 | MSH2 | c.394G>A (p.Glu132Lys) c.196G>A (p.Glu66Lys) n.466G>A n.456G>A | dbSNP |
2 | g.47410121G>C | CA346730378 | MSH2 | c.394G>C (p.Glu132Gln) c.196G>C (p.Glu66Gln) n.466G>C n.456G>C | dbSNP |
2 | g.47410121G>T | CA346730379 | MSH2 | c.394G>T (p.Glu132Ter) c.196G>T (p.Glu66Ter) n.466G>T n.456G>T | ClinVar |
2 | g.47410121dup | CA2586969161 | MSH2 | c.394dup (p.Glu132GlyfsTer7) c.196dup (p.Glu66GlyfsTer7) n.466dup n.456dup | |
2 | g.47410121_47410122insTT | CA2580067642 | MSH2 | c.394_395insTT (p.Glu132ValfsTer?) c.196_197insTT (p.Glu66ValfsTer?) n.466_467insTT n.456_457insTT | ClinVar |
2 | g.47410122A= | CA2495831136 | MSH2 | c.395A= (p.Glu132=) c.197A= (p.Glu66=) n.467A= n.457A= | |
2 | g.47410122A>C | CA346730380 | MSH2 | c.395A>C (p.Glu132Ala) c.197A>C (p.Glu66Ala) n.467A>C n.457A>C | |
2 | g.47410122A>G | CA346730382 | MSH2 | c.395A>G (p.Glu132Gly) c.197A>G (p.Glu66Gly) n.467A>G n.457A>G | |
2 | g.47410122A>T | CA346730381 | MSH2 | c.395A>T (p.Glu132Val) c.197A>T (p.Glu66Val) n.467A>T n.457A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47410123A>C | CA346730383 | MSH2 | c.396A>C (p.Glu132Asp) c.198A>C (p.Glu66Asp) n.468A>C n.458A>C | |
2 | g.47410123A>G | CA426119432 | MSH2 | c.396A>G (p.Glu132=) c.198A>G (p.Glu66=) n.468A>G n.458A>G | |
2 | g.47410123A>T | CA346730384 | MSH2 | c.396A>T (p.Glu132Asp) c.198A>T (p.Glu66Asp) n.468A>T n.458A>T | dbSNP |
2 | g.47410124G>A | CA346730385 | MSH2 | c.397G>A (p.Asp133Asn) c.199G>A (p.Asp67Asn) n.469G>A n.459G>A | dbSNP |
2 | g.47410124G>C | CA346730386 | MSH2 | c.397G>C (p.Asp133His) c.199G>C (p.Asp67His) n.469G>C n.459G>C | dbSNP |
2 | g.47410124G>T | CA346730387 | MSH2 | c.397G>T (p.Asp133Tyr) c.199G>T (p.Asp67Tyr) n.469G>T n.459G>T | ClinVar dbSNP |
2 | g.47410125A= | CA2495831137 | MSH2 | c.398A= (p.Asp133=) c.200A= (p.Asp67=) n.470A= n.460A= | |
2 | g.47410125A>C | CA346730388 | MSH2 | c.398A>C (p.Asp133Ala) c.200A>C (p.Asp67Ala) n.470A>C n.460A>C | dbSNP |
2 | g.47410125A>G | CA46677666 | MSH2 | c.398A>G (p.Asp133Gly) c.200A>G (p.Asp67Gly) n.470A>G n.460A>G | ClinVar dbSNP |
2 | g.47410125A>T | CA346730389 | MSH2 | c.398A>T (p.Asp133Val) c.200A>T (p.Asp67Val) n.470A>T n.460A>T | dbSNP gnomAD v4 |
2 | g.47410125_47410126delinsAC | CA2495831138 | MSH2 | c.398_399delinsAC (p.Asp133=) c.200_201delinsAC (p.Asp67=) n.470_471delinsAC n.460_461delinsAC | |
2 | g.47410126_47410127dup | CA2586969162 | MSH2 | c.399_400dup (p.Ile134ThrfsTer?) c.201_202dup (p.Ile68ThrfsTer?) n.471_472dup n.461_462dup | |
2 | g.47410126del | CA021127 | MSH2 | c.399del (p.Asp133GlufsTer?) c.201del (p.Asp67GlufsTer?) n.471del n.461del | ClinVar dbSNP |
2 | g.47410126C>A | CA346730390 | MSH2 | c.399C>A (p.Asp133Glu) c.201C>A (p.Asp67Glu) n.471C>A n.461C>A | |
2 | g.47410126C= | CA2495831139 | MSH2 | c.399C= (p.Asp133=) c.201C= (p.Asp67=) n.471C= n.461C= | |
2 | g.47410126C>G | CA346730391 | MSH2 | c.399C>G (p.Asp133Glu) c.201C>G (p.Asp67Glu) n.471C>G n.461C>G | dbSNP |
2 | g.47410126C>T | CA021124 | MSH2 | c.399C>T (p.Asp133=) c.201C>T (p.Asp67=) n.471C>T n.461C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410127A= | CA2495831140 | MSH2 | c.400A= (p.Ile134=) c.202A= (p.Ile68=) n.472A= n.462A= | |
2 | g.47410127A>C | CA346730392 | MSH2 | c.400A>C (p.Ile134Leu) c.202A>C (p.Ile68Leu) n.472A>C n.462A>C | gnomAD v4 |
2 | g.47410127A>G | CA346730394 | MSH2 | c.400A>G (p.Ile134Val) c.202A>G (p.Ile68Val) n.472A>G n.462A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410127A>T | CA346730393 | MSH2 | c.400A>T (p.Ile134Phe) c.202A>T (p.Ile68Phe) n.472A>T n.462A>T | ClinVar dbSNP |
2 | g.47410127_47410128del | CA2580067643 | MSH2 | c.400_401del (p.Ile134SerfsTer4) c.202_203del (p.Ile68SerfsTer4) n.472_473del n.462_463del | ClinVar |
2 | g.47410128T>A | CA346730395 | MSH2 | c.401T>A (p.Ile134Asn) c.203T>A (p.Ile68Asn) n.473T>A n.463T>A | |
2 | g.47410128T>C | CA346730396 | MSH2 | c.401T>C (p.Ile134Thr) c.203T>C (p.Ile68Thr) n.473T>C n.463T>C | ClinVar gnomAD v4 |
2 | g.47410128T>G | CA346730397 | MSH2 | c.401T>G (p.Ile134Ser) c.203T>G (p.Ile68Ser) n.473T>G n.463T>G | |
2 | g.47410129T>A | CA426119435 | MSH2 | c.402T>A (p.Ile134=) c.204T>A (p.Ile68=) n.474T>A n.464T>A | dbSNP |
2 | g.47410129T>C | CA426119434 | MSH2 | c.402T>C (p.Ile134=) c.204T>C (p.Ile68=) n.474T>C n.464T>C | dbSNP |
2 | g.47410129T>G | CA346730398 | MSH2 | c.402T>G (p.Ile134Met) c.204T>G (p.Ile68Met) n.474T>G n.464T>G | |
2 | g.47410130C>A | CA346730399 | MSH2 | c.403C>A (p.Leu135Ile) c.205C>A (p.Leu69Ile) n.475C>A n.465C>A | ClinVar dbSNP |
2 | g.47410130C= | CA2495831141 | MSH2 | c.403C= (p.Leu135=) c.205C= (p.Leu69=) n.475C= n.465C= | |
2 | g.47410130C>G | CA021133 | MSH2 | c.403C>G (p.Leu135Val) c.205C>G (p.Leu69Val) n.475C>G n.465C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410130C>T | CA021136 | MSH2 | c.403C>T (p.Leu135Phe) c.205C>T (p.Leu69Phe) n.475C>T n.465C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410131T>A | CA346730400 | MSH2 | c.404T>A (p.Leu135His) c.206T>A (p.Leu69His) n.476T>A n.466T>A | dbSNP |
2 | g.47410131T>C | CA346730401 | MSH2 | c.404T>C (p.Leu135Pro) c.206T>C (p.Leu69Pro) n.476T>C n.466T>C | dbSNP |
2 | g.47410131T>G | CA346730402 | MSH2 | c.404T>G (p.Leu135Arg) c.206T>G (p.Leu69Arg) n.476T>G n.466T>G | |
2 | g.47410132C>A | CA426119437 | MSH2 | c.405C>A (p.Leu135=) c.207C>A (p.Leu69=) n.477C>A n.467C>A | |
2 | g.47410132C= | CA2495831143 | MSH2 | c.405C= (p.Leu135=) c.207C= (p.Leu69=) n.477C= n.467C= | |
2 | g.47410132C>G | CA1649254 | MSH2 | c.405C>G (p.Leu135=) c.207C>G (p.Leu69=) n.477C>G n.467C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.47410132C>T | CA426119439 | MSH2 | c.405C>T (p.Leu135=) c.207C>T (p.Leu69=) n.477C>T n.467C>T | ClinVar dbSNP |
2 | g.47410132_47410133delinsCT | CA2495831142 | MSH2 | c.405_406delinsCT (p.Leu135=) c.207_208delinsCT (p.Leu69=) n.477_478delinsCT n.467_468delinsCT | |
2 | g.47410133T>A | CA346730405 | MSH2 | c.406T>A (p.Phe136Ile) c.208T>A (p.Phe70Ile) n.478T>A n.468T>A | dbSNP |
2 | g.47410133T>C | CA346730404 | MSH2 | c.406T>C (p.Phe136Leu) c.208T>C (p.Phe70Leu) n.478T>C n.468T>C | dbSNP gnomAD v4 |
2 | g.47410133T>G | CA346730403 | MSH2 | c.406T>G (p.Phe136Val) c.208T>G (p.Phe70Val) n.478T>G n.468T>G | |
2 | g.47410133T= | CA2495831144 | MSH2 | c.406T= (p.Phe136=) c.208T= (p.Phe70=) n.478T= n.468T= | |
2 | g.47410135del | CA021138 | MSH2 | c.408del (p.Phe136LeufsTer?) c.210del (p.Phe70LeufsTer?) n.480del n.470del | ClinVar dbSNP ExAC |
2 | g.47410134_47410135del | CA2699074142 | MSH2 | c.407_408del (p.Phe136TrpfsTer2) c.209_210del (p.Phe70TrpfsTer2) n.479_480del n.469_470del | dbSNP |
2 | g.47410134T>A | CA346730406 | MSH2 | c.407T>A (p.Phe136Tyr) c.209T>A (p.Phe70Tyr) n.479T>A n.469T>A | |
2 | g.47410134T>C | CA346730407 | MSH2 | c.407T>C (p.Phe136Ser) c.209T>C (p.Phe70Ser) n.479T>C n.469T>C | ClinVar dbSNP |
2 | g.47410134T>G | CA346730408 | MSH2 | c.407T>G (p.Phe136Cys) c.209T>G (p.Phe70Cys) n.479T>G n.469T>G | gnomAD v4 |
2 | g.47410135T>A | CA346730409 | MSH2 | c.408T>A (p.Phe136Leu) c.210T>A (p.Phe70Leu) n.480T>A n.470T>A | |
2 | g.47410135T>C | CA426119441 | MSH2 | c.408T>C (p.Phe136=) c.210T>C (p.Phe70=) n.480T>C n.470T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410135T>G | CA346730410 | MSH2 | c.408T>G (p.Phe136Leu) c.210T>G (p.Phe70Leu) n.480T>G n.470T>G | ClinVar dbSNP |
2 | g.47410135T= | CA2495831145 | MSH2 | c.408T= (p.Phe136=) c.210T= (p.Phe70=) n.480T= n.470T= | |
2 | g.47410136G>A | CA346730411 | MSH2 | c.409G>A (p.Gly137Ser) c.211G>A (p.Gly71Ser) n.481G>A n.471G>A | dbSNP |
2 | g.47410136G>C | CA021142 | MSH2 | c.409G>C (p.Gly137Arg) c.211G>C (p.Gly71Arg) n.481G>C n.471G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410136G= | CA2495831146 | MSH2 | c.409G= (p.Gly137=) c.211G= (p.Gly71=) n.481G= n.471G= | |
2 | g.47410136G>T | CA346730412 | MSH2 | c.409G>T (p.Gly137Cys) c.211G>T (p.Gly71Cys) n.481G>T n.471G>T | dbSNP COSMIC |
2 | g.47410137G>A | CA346730413 | MSH2 | c.410G>A (p.Gly137Asp) c.212G>A (p.Gly71Asp) n.482G>A n.472G>A | dbSNP |
2 | g.47410137G>C | CA346730414 | MSH2 | c.410G>C (p.Gly137Ala) c.212G>C (p.Gly71Ala) n.482G>C n.472G>C | ClinVar dbSNP |
2 | g.47410137G= | CA2495831147 | MSH2 | c.410G= (p.Gly137=) c.212G= (p.Gly71=) n.482G= n.472G= | |
2 | g.47410137G>T | CA346730415 | MSH2 | c.410G>T (p.Gly137Val) c.212G>T (p.Gly71Val) n.482G>T n.472G>T | ClinVar dbSNP |
2 | g.47410138T>A | CA426119443 | MSH2 | c.411T>A (p.Gly137=) c.213T>A (p.Gly71=) n.483T>A n.473T>A | |
2 | g.47410138T>C | CA426119444 | MSH2 | c.411T>C (p.Gly137=) c.213T>C (p.Gly71=) n.483T>C n.473T>C | |
2 | g.47410138T>G | CA426119445 | MSH2 | c.411T>G (p.Gly137=) c.213T>G (p.Gly71=) n.483T>G n.473T>G | |
2 | g.47410139A= | CA2495831148 | MSH2 | c.412A= (p.Asn138=) c.214A= (p.Asn72=) n.484A= n.474A= | |
2 | g.47410139A>C | CA346730416 | MSH2 | c.412A>C (p.Asn138His) c.214A>C (p.Asn72His) n.484A>C n.474A>C | |
2 | g.47410139A>G | CA346730418 | MSH2 | c.412A>G (p.Asn138Asp) c.214A>G (p.Asn72Asp) n.484A>G n.474A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410139A>T | CA346730417 | MSH2 | c.412A>T (p.Asn138Tyr) c.214A>T (p.Asn72Tyr) n.484A>T n.474A>T | ClinVar dbSNP |
2 | g.47410140dup | CA2695200734 | MSH2 | c.413dup (p.Asn138LysfsTer3) c.215dup (p.Asn72LysfsTer3) n.485dup n.475dup | ClinVar |
2 | g.47410140del | CA2699275583 | MSH2 | c.413del (p.Asn138ThrfsTer?) c.215del (p.Asn72ThrfsTer?) n.485del n.475del | dbSNP |
2 | g.47410140A= | CA2495831149 | MSH2 | c.413A= (p.Asn138=) c.215A= (p.Asn72=) n.485A= n.475A= | |
2 | g.47410140A>C | CA346730419 | MSH2 | c.413A>C (p.Asn138Thr) c.215A>C (p.Asn72Thr) n.485A>C n.475A>C | |
2 | g.47410140A>G | CA038614 | MSH2 | c.413A>G (p.Asn138Ser) c.215A>G (p.Asn72Ser) n.485A>G n.475A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410140A>T | CA346730420 | MSH2 | c.413A>T (p.Asn138Ile) c.215A>T (p.Asn72Ile) n.485A>T n.475A>T | dbSNP gnomAD v4 |
2 | g.47410141C>A | CA346730421 | MSH2 | c.414C>A (p.Asn138Lys) c.216C>A (p.Asn72Lys) n.486C>A n.476C>A | ClinVar dbSNP |
2 | g.47410141C= | CA2495831151 | MSH2 | c.414C= (p.Asn138=) c.216C= (p.Asn72=) n.486C= n.476C= | |
2 | g.47410141C>G | CA346730422 | MSH2 | c.414C>G (p.Asn138Lys) c.216C>G (p.Asn72Lys) n.486C>G n.476C>G | ClinVar dbSNP |
2 | g.47410141C>T | CA426119446 | MSH2 | c.414C>T (p.Asn138=) c.216C>T (p.Asn72=) n.486C>T n.476C>T | dbSNP |
2 | g.47410141_47410142delinsCA | CA2495831150 | MSH2 | c.414_415delinsCA (p.Asn138=) c.216_217delinsCA (p.Asn72=) n.486_487delinsCA n.476_477delinsCA | |
2 | g.47410141_47410144delinsCAAT | CA2495831152 | MSH2 | c.414_417delinsCAAT (p.Asn138=) c.216_219delinsCAAT (p.Asn72=) n.486_489delinsCAAT n.476_479delinsCAAT | |
2 | g.47410142A= | CA2495831153 | MSH2 | c.415A= (p.Asn139=) c.217A= (p.Asn73=) n.487A= n.477A= | |
2 | g.47410142A>C | CA346730423 | MSH2 | c.415A>C (p.Asn139His) c.217A>C (p.Asn73His) n.487A>C n.477A>C | |
2 | g.47410142A>G | CA346730424 | MSH2 | c.415A>G (p.Asn139Asp) c.217A>G (p.Asn73Asp) n.487A>G n.477A>G | ClinVar dbSNP |
2 | g.47410142A>T | CA346730425 | MSH2 | c.415A>T (p.Asn139Tyr) c.217A>T (p.Asn73Tyr) n.487A>T n.477A>T | |
2 | g.47410143del | CA021145 | MSH2 | c.416del (p.Asn139MetfsTer?) c.218del (p.Asn73MetfsTer?) n.488del n.478del | ClinVar dbSNP |
2 | g.47410142_47410144del | CA1139656942 | MSH2 | c.415_417del (p.Asn139del) c.217_219del (p.Asn73del) n.487_489del n.477_479del | ClinVar dbSNP |
2 | g.47410143A= | CA2495831154 | MSH2 | c.416A= (p.Asn139=) c.218A= (p.Asn73=) n.488A= n.478A= | |
2 | g.47410143A>C | CA346730426 | MSH2 | c.416A>C (p.Asn139Thr) c.218A>C (p.Asn73Thr) n.488A>C n.478A>C | |
2 | g.47410143A>G | CA346730427 | MSH2 | c.416A>G (p.Asn139Ser) c.218A>G (p.Asn73Ser) n.488A>G n.478A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410143A>T | CA346730428 | MSH2 | c.416A>T (p.Asn139Ile) c.218A>T (p.Asn73Ile) n.488A>T n.478A>T | dbSNP |
2 | g.47410145_47410147del | CA2586969163 | MSH2 | c.418_420del (p.Asp140del) c.220_222del (p.Asp74del) n.490_492del n.480_482del | |
2 | g.47410144T>A | CA346730429 | MSH2 | c.417T>A (p.Asn139Lys) c.219T>A (p.Asn73Lys) n.489T>A n.479T>A | dbSNP gnomAD v4 |
2 | g.47410144T>C | CA426119450 | MSH2 | c.417T>C (p.Asn139=) c.219T>C (p.Asn73=) n.489T>C n.479T>C | ClinVar |
2 | g.47410144T>G | CA346730430 | MSH2 | c.417T>G (p.Asn139Lys) c.219T>G (p.Asn73Lys) n.489T>G n.479T>G | |
2 | g.47410145G>A | CA346730432 | MSH2 | c.418G>A (p.Asp140Asn) c.220G>A (p.Asp74Asn) n.490G>A n.480G>A | dbSNP |
2 | g.47410145G>C | CA346730431 | MSH2 | c.418G>C (p.Asp140His) c.220G>C (p.Asp74His) n.490G>C n.480G>C | dbSNP |
2 | g.47410145G= | CA2495831155 | MSH2 | c.418G= (p.Asp140=) c.220G= (p.Asp74=) n.490G= n.480G= | |
2 | g.47410145G>T | CA038631 | MSH2 | c.418G>T (p.Asp140Tyr) c.220G>T (p.Asp74Tyr) n.490G>T n.480G>T | dbSNP ExAC gnomAD v4 |
2 | g.47410145_47410147delinsGAT | CA2495831156 | MSH2 | c.418_420delinsGAT (p.Asp140=) c.220_222delinsGAT (p.Asp74=) n.490_492delinsGAT n.480_482delinsGAT | |
2 | g.47410146A= | CA2495831157 | MSH2 | c.419A= (p.Asp140=) c.221A= (p.Asp74=) n.491A= n.481A= | |
2 | g.47410146A>C | CA346730433 | MSH2 | c.419A>C (p.Asp140Ala) c.221A>C (p.Asp74Ala) n.491A>C n.481A>C | ClinVar dbSNP |
2 | g.47410146A>G | CA346730434 | MSH2 | c.419A>G (p.Asp140Gly) c.221A>G (p.Asp74Gly) n.491A>G n.481A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410146A>T | CA346730435 | MSH2 | c.419A>T (p.Asp140Val) c.221A>T (p.Asp74Val) n.491A>T n.481A>T | ClinVar dbSNP |
2 | g.47410148_47410149del | CA337956 | MSH2 | c.421_422del (p.Met141ValfsTer10) c.223_224del (p.Met75ValfsTer10) n.493_494del n.483_484del | ClinVar dbSNP |
2 | g.47410147T>A | CA346730436 | MSH2 | c.420T>A (p.Asp140Glu) c.222T>A (p.Asp74Glu) n.492T>A n.482T>A | dbSNP |
2 | g.47410147T>C | CA426119456 | MSH2 | c.420T>C (p.Asp140=) c.222T>C (p.Asp74=) n.492T>C n.482T>C | gnomAD v4 |
2 | g.47410147T>G | CA346730437 | MSH2 | c.420T>G (p.Asp140Glu) c.222T>G (p.Asp74Glu) n.492T>G n.482T>G | |
2 | g.47410147_47410148insTT | CA2580067647 | MSH2 | c.420_421insTT (p.Met141LeufsTer?) c.222_223insTT (p.Met75LeufsTer?) n.492_493insTT n.482_483insTT | ClinVar |
2 | g.47410147dup | CA645369180 | MSH2 | c.420dup (p.Met141TyrfsTer11) c.222dup (p.Met75TyrfsTer11) n.492dup n.482dup | ClinVar dbSNP |
2 | g.47410148A= | CA2495831158 | MSH2 | c.421A= (p.Met141=) c.223A= (p.Met75=) n.493A= n.483A= | |
2 | g.47410148A>C | CA346730438 | MSH2 | c.421A>C (p.Met141Leu) c.223A>C (p.Met75Leu) n.493A>C n.483A>C | |
2 | g.47410148A>G | CA021148 | MSH2 | c.421A>G (p.Met141Val) c.223A>G (p.Met75Val) n.493A>G n.483A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410148A>T | CA346730439 | MSH2 | c.421A>T (p.Met141Leu) c.223A>T (p.Met75Leu) n.493A>T n.483A>T | dbSNP |
2 | g.47410149T>A | CA346730441 | MSH2 | c.422T>A (p.Met141Lys) c.224T>A (p.Met75Lys) n.494T>A n.484T>A | dbSNP |
2 | g.47410149T>C | CA038657 | MSH2 | c.422T>C (p.Met141Thr) c.224T>C (p.Met75Thr) n.494T>C n.484T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410149T>G | CA346730440 | MSH2 | c.422T>G (p.Met141Arg) c.224T>G (p.Met75Arg) n.494T>G n.484T>G | gnomAD v4 |
2 | g.47410149T= | CA2495831159 | MSH2 | c.422T= (p.Met141=) c.224T= (p.Met75=) n.494T= n.484T= | |
2 | g.47410149_47410152dup | CA2580067648 | MSH2 | c.422_425dup (p.Ala143ValfsTer10) c.224_227dup (p.Ala77ValfsTer10) n.494_497dup n.484_487dup | ClinVar |
2 | g.47410150G>A | CA346730442 | MSH2 | c.423G>A (p.Met141Ile) c.225G>A (p.Met75Ile) n.495G>A n.485G>A | ClinVar dbSNP |
2 | g.47410150G>C | CA346730443 | MSH2 | c.423G>C (p.Met141Ile) c.225G>C (p.Met75Ile) n.495G>C n.485G>C | dbSNP |
2 | g.47410150G= | CA2495831160 | MSH2 | c.423G= (p.Met141=) c.225G= (p.Met75=) n.495G= n.485G= | |
2 | g.47410150G>T | CA346730444 | MSH2 | c.423G>T (p.Met141Ile) c.225G>T (p.Met75Ile) n.495G>T n.485G>T | |
2 | g.47410151T>A | CA346730445 | MSH2 | c.424T>A (p.Ser142Thr) c.226T>A (p.Ser76Thr) n.496T>A n.486T>A | dbSNP |
2 | g.47410151T>C | CA346730446 | MSH2 | c.424T>C (p.Ser142Pro) c.226T>C (p.Ser76Pro) n.496T>C n.486T>C | |
2 | g.47410151T>G | CA16617557 | MSH2 | c.424T>G (p.Ser142Ala) c.226T>G (p.Ser76Ala) n.496T>G n.486T>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410151T= | CA2495831161 | MSH2 | c.424T= (p.Ser142=) c.226T= (p.Ser76=) n.496T= n.486T= | |
2 | g.47410152_47410156dup | CA2586969164 | MSH2 | c.425_429dup (p.Ser144GlnfsTer?) c.227_231dup (p.Ser78GlnfsTer?) n.497_501dup n.487_491dup | |
2 | g.47410152C>A | CA346730447 | MSH2 | c.425C>A (p.Ser142Ter) c.227C>A (p.Ser76Ter) n.497C>A n.487C>A | ClinVar dbSNP |
2 | g.47410152C= | CA2495831162 | MSH2 | c.425C= (p.Ser142=) c.227C= (p.Ser76=) n.497C= n.487C= | |
2 | g.47410152C>G | CA021151 | MSH2 | c.425C>G (p.Ser142Ter) c.227C>G (p.Ser76Ter) n.497C>G n.487C>G | ClinVar dbSNP |
2 | g.47410152C>T | CA346730448 | MSH2 | c.425C>T (p.Ser142Leu) c.227C>T (p.Ser76Leu) n.497C>T n.487C>T | ClinVar |
2 | g.47410152dup | CA2580067651 | MSH2 | c.425dup (p.Ala143SerfsTer9) c.227dup (p.Ala77SerfsTer9) n.497dup n.487dup | ClinVar |
2 | g.47410153A= | CA2495831163 | MSH2 | c.426A= (p.Ser142=) c.228A= (p.Ser76=) n.498A= n.488A= | |
2 | g.47410153A>C | CA426119459 | MSH2 | c.426A>C (p.Ser142=) c.228A>C (p.Ser76=) n.498A>C n.488A>C | |
2 | g.47410153A>G | CA46677721 | MSH2 | c.426A>G (p.Ser142=) c.228A>G (p.Ser76=) n.498A>G n.488A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410153A>T | CA426119460 | MSH2 | c.426A>T (p.Ser142=) c.228A>T (p.Ser76=) n.498A>T n.488A>T | ClinVar dbSNP |
2 | g.47410154G>A | CA10581995 | MSH2 | c.427G>A (p.Ala143Thr) c.229G>A (p.Ala77Thr) n.499G>A n.489G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47410154G>C | CA346730449 | MSH2 | c.427G>C (p.Ala143Pro) c.229G>C (p.Ala77Pro) n.499G>C n.489G>C | dbSNP |
2 | g.47410154G= | CA2495831164 | MSH2 | c.427G= (p.Ala143=) c.229G= (p.Ala77=) n.499G= n.489G= | |
2 | g.47410154G>T | CA346730450 | MSH2 | c.427G>T (p.Ala143Ser) c.229G>T (p.Ala77Ser) n.499G>T n.489G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410155C>A | CA346730453 | MSH2 | c.428C>A (p.Ala143Asp) c.230C>A (p.Ala77Asp) n.500C>A n.490C>A | dbSNP |
2 | g.47410155C= | CA2495831166 | MSH2 | c.428C= (p.Ala143=) c.230C= (p.Ala77=) n.500C= n.490C= | |
2 | g.47410155C>G | CA346730451 | MSH2 | c.428C>G (p.Ala143Gly) c.230C>G (p.Ala77Gly) n.500C>G n.490C>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410155C>T | CA346730452 | MSH2 | c.428C>T (p.Ala143Val) c.230C>T (p.Ala77Val) n.500C>T n.490C>T | ClinVar dbSNP |
2 | g.47410155_47410156delinsCT | CA2495831165 | MSH2 | c.428_429delinsCT (p.Ala143=) c.230_231delinsCT (p.Ala77=) n.500_501delinsCT n.490_491delinsCT | |
2 | g.47410156T>A | CA426119464 | MSH2 | c.429T>A (p.Ala143=) c.231T>A (p.Ala77=) n.501T>A n.491T>A | dbSNP |
2 | g.47410156T>C | CA426119462 | MSH2 | c.429T>C (p.Ala143=) c.231T>C (p.Ala77=) n.501T>C n.491T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410156T>G | CA426119461 | MSH2 | c.429T>G (p.Ala143=) c.231T>G (p.Ala77=) n.501T>G n.491T>G | |
2 | g.47410156T= | CA2495831167 | MSH2 | c.429T= (p.Ala143=) c.231T= (p.Ala77=) n.501T= n.491T= | |
2 | g.47410157del | CA1139656944 | MSH2 | c.430del (p.Ser144ProfsTer30) c.232del (p.Ser78ProfsTer30) n.502del n.492del | ClinVar dbSNP |
2 | g.47410157T>A | CA346730454 | MSH2 | c.430T>A (p.Ser144Thr) c.232T>A (p.Ser78Thr) n.502T>A n.492T>A | |
2 | g.47410157T>C | CA346730455 | MSH2 | c.430T>C (p.Ser144Pro) c.232T>C (p.Ser78Pro) n.502T>C n.492T>C | ClinVar gnomAD v4 |
2 | g.47410157T>G | CA346730456 | MSH2 | c.430T>G (p.Ser144Ala) c.232T>G (p.Ser78Ala) n.502T>G n.492T>G | ClinVar dbSNP |
2 | g.47410157T= | CA2495831168 | MSH2 | c.430T= (p.Ser144=) c.232T= (p.Ser78=) n.502T= n.492T= | |
2 | g.47410158C>A | CA346730457 | MSH2 | c.431C>A (p.Ser144Tyr) c.233C>A (p.Ser78Tyr) n.503C>A n.493C>A | |
2 | g.47410158C= | CA2495831169 | MSH2 | c.431C= (p.Ser144=) c.233C= (p.Ser78=) n.503C= n.493C= | |
2 | g.47410158C>G | CA10581996 | MSH2 | c.431C>G (p.Ser144Cys) c.233C>G (p.Ser78Cys) n.503C>G n.493C>G | ClinVar dbSNP |
2 | g.47410158C>T | CA346730458 | MSH2 | c.431C>T (p.Ser144Phe) c.233C>T (p.Ser78Phe) n.503C>T n.493C>T | |
2 | g.47410159del | CA2586969165 | MSH2 | c.432del (p.Ile145LeufsTer29) c.234del (p.Ile79LeufsTer29) n.504del n.494del | |
2 | g.47410159C>A | CA426119466 | MSH2 | c.432C>A (p.Ser144=) c.234C>A (p.Ser78=) n.504C>A n.494C>A | dbSNP |
2 | g.47410159C= | CA2495831170 | MSH2 | c.432C= (p.Ser144=) c.234C= (p.Ser78=) n.504C= n.494C= | |
2 | g.47410159C>G | CA426119467 | MSH2 | c.432C>G (p.Ser144=) c.234C>G (p.Ser78=) n.504C>G n.494C>G | dbSNP |
2 | g.47410159C>T | CA426119468 | MSH2 | c.432C>T (p.Ser144=) c.234C>T (p.Ser78=) n.504C>T n.494C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410160A= | CA2495831171 | MSH2 | c.433A= (p.Ile145=) c.235A= (p.Ile79=) n.505A= n.495A= | |
2 | g.47410160A>C | CA346730459 | MSH2 | c.433A>C (p.Ile145Leu) c.235A>C (p.Ile79Leu) n.505A>C n.495A>C | |
2 | g.47410160A>G | CA10577937 | MSH2 | c.433A>G (p.Ile145Val) c.235A>G (p.Ile79Val) n.505A>G n.495A>G | ClinVar dbSNP |
2 | g.47410160A>T | CA346730460 | MSH2 | c.433A>T (p.Ile145Phe) c.235A>T (p.Ile79Phe) n.505A>T n.495A>T | |
2 | g.47410161T>A | CA346730461 | MSH2 | c.434T>A (p.Ile145Asn) c.236T>A (p.Ile79Asn) n.506T>A n.496T>A | |
2 | g.47410161T>C | CA038704 | MSH2 | c.434T>C (p.Ile145Thr) c.236T>C (p.Ile79Thr) n.506T>C n.496T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410161T>G | CA346730462 | MSH2 | c.434T>G (p.Ile145Ser) c.236T>G (p.Ile79Ser) n.506T>G n.496T>G | |
2 | g.47410161T= | CA2495831172 | MSH2 | c.434T= (p.Ile145=) c.236T= (p.Ile79=) n.506T= n.496T= | |
2 | g.47410162T>A | CA426119471 | MSH2 | c.435T>A (p.Ile145=) c.237T>A (p.Ile79=) n.507T>A n.497T>A | |
2 | g.47410162T>C | CA426119472 | MSH2 | c.435T>C (p.Ile145=) c.237T>C (p.Ile79=) n.507T>C n.497T>C | ClinVar dbSNP |
2 | g.47410162T>G | CA021158 | MSH2 | c.435T>G (p.Ile145Met) c.237T>G (p.Ile79Met) n.507T>G n.497T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410162T= | CA2495831173 | MSH2 | c.435T= (p.Ile145=) c.237T= (p.Ile79=) n.507T= n.497T= | |
2 | g.47410163G>A | CA346730465 | MSH2 | c.436G>A (p.Gly146Ser) c.238G>A (p.Gly80Ser) n.508G>A n.498G>A | dbSNP gnomAD v4 |
2 | g.47410163G>C | CA346730464 | MSH2 | c.436G>C (p.Gly146Arg) c.238G>C (p.Gly80Arg) n.508G>C n.498G>C | ClinVar dbSNP |
2 | g.47410163G= | CA2495831174 | MSH2 | c.436G= (p.Gly146=) c.238G= (p.Gly80=) n.508G= n.498G= | |
2 | g.47410163G>T | CA346730463 | MSH2 | c.436G>T (p.Gly146Cys) c.238G>T (p.Gly80Cys) n.508G>T n.498G>T | dbSNP |
2 | g.47410164G>A | CA346730467 | MSH2 | c.437G>A (p.Gly146Asp) c.239G>A (p.Gly80Asp) n.509G>A n.499G>A | dbSNP |
2 | g.47410164G>C | CA346730466 | MSH2 | c.437G>C (p.Gly146Ala) c.239G>C (p.Gly80Ala) n.509G>C n.499G>C | dbSNP |
2 | g.47410164G= | CA2495831175 | MSH2 | c.437G= (p.Gly146=) c.239G= (p.Gly80=) n.509G= n.499G= | |
2 | g.47410164G>T | CA021161 | MSH2 | c.437G>T (p.Gly146Val) c.239G>T (p.Gly80Val) n.509G>T n.499G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410166_47410167dup | CA891842930 | MSH2 | c.439_440dup (p.Val148LeufsTer27) c.241_242dup (p.Val82LeufsTer27) n.511_512dup n.501_502dup | ClinVar dbSNP |
2 | g.47410167_47410171dup | CA2580067655 | MSH2 | c.440_444dup (p.Gly149LeufsTer27) c.242_246dup (p.Gly83LeufsTer27) n.512_516dup n.502_506dup | ClinVar |
2 | g.47410165T>A | CA426119474 | MSH2 | c.438T>A (p.Gly146=) c.240T>A (p.Gly80=) n.510T>A n.500T>A | |
2 | g.47410165T>C | CA021164 | MSH2 | c.438T>C (p.Gly146=) c.240T>C (p.Gly80=) n.510T>C n.500T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47410165T>G | CA021167 | MSH2 | c.438T>G (p.Gly146=) c.240T>G (p.Gly80=) n.510T>G n.500T>G | ClinVar dbSNP |
2 | g.47410165T= | CA2495831176 | MSH2 | c.438T= (p.Gly146=) c.240T= (p.Gly80=) n.510T= n.500T= | |
2 | g.47410166G>A | CA038750 | MSH2 | c.439G>A (p.Val147Ile) c.241G>A (p.Val81Ile) n.511G>A n.501G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410166G>C | CA346730468 | MSH2 | c.439G>C (p.Val147Leu) c.241G>C (p.Val81Leu) n.511G>C n.501G>C | dbSNP |
2 | g.47410166G= | CA2495831177 | MSH2 | c.439G= (p.Val147=) c.241G= (p.Val81=) n.511G= n.501G= | |
2 | g.47410166G>T | CA346730469 | MSH2 | c.439G>T (p.Val147Phe) c.241G>T (p.Val81Phe) n.511G>T n.501G>T | dbSNP |
2 | g.47410167T>A | CA346730470 | MSH2 | c.440T>A (p.Val147Asp) c.242T>A (p.Val81Asp) n.512T>A n.502T>A | ClinVar dbSNP |
2 | g.47410167T>C | CA346730471 | MSH2 | c.440T>C (p.Val147Ala) c.242T>C (p.Val81Ala) n.512T>C n.502T>C | |
2 | g.47410167T>G | CA038774 | MSH2 | c.440T>G (p.Val147Gly) c.242T>G (p.Val81Gly) n.512T>G n.502T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410167T= | CA2495831178 | MSH2 | c.440T= (p.Val147=) c.242T= (p.Val81=) n.512T= n.502T= | |
2 | g.47410168del | CA2580067657 | MSH2 | c.441del (p.Val148TrpfsTer26) c.243del (p.Val82TrpfsTer26) n.513del n.503del | ClinVar |
2 | g.47410168T>A | CA426119478 | MSH2 | c.441T>A (p.Val147=) c.243T>A (p.Val81=) n.513T>A n.503T>A | |
2 | g.47410168T>C | CA426119479 | MSH2 | c.441T>C (p.Val147=) c.243T>C (p.Val81=) n.513T>C n.503T>C | |
2 | g.47410168T>G | CA426119480 | MSH2 | c.441T>G (p.Val147=) c.243T>G (p.Val81=) n.513T>G n.503T>G | ClinVar |
2 | g.47410169G>A | CA346730472 | MSH2 | c.442G>A (p.Val148Met) c.244G>A (p.Val82Met) n.514G>A n.504G>A | ClinVar dbSNP |
2 | g.47410169G>C | CA346730473 | MSH2 | c.442G>C (p.Val148Leu) c.244G>C (p.Val82Leu) n.514G>C n.504G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410169G= | CA2495831181 | MSH2 | c.442G= (p.Val148=) c.244G= (p.Val82=) n.514G= n.504G= | |
2 | g.47410169G>T | CA346730474 | MSH2 | c.442G>T (p.Val148Leu) c.244G>T (p.Val82Leu) n.514G>T n.504G>T | |
2 | g.47410169_47410170delinsGT | CA2495831180 | MSH2 | c.442_443delinsGT (p.Val148=) c.244_245delinsGT (p.Val82=) n.514_515delinsGT n.504_505delinsGT | |
2 | g.47410172_47410175del | CA2695200735 | MSH2 | c.445_448del (p.Gly149LeufsTer24) c.247_250del (p.Gly83LeufsTer24) n.517_520del n.507_510del | ClinVar dbSNP |
2 | g.47410169_47410181delinsGTGGGTGTTAAAA | CA2495831179 | MSH2 | c.442_454delinsGTGGGTGTTAAAA (p.Val148=) c.244_256delinsGTGGGTGTTAAAA (p.Val82=) n.514_526delinsGTGGGTGTTAAAA n.504_516delinsGTGGGTGTTAAAA | |
2 | g.47410170del | CA658655685 | MSH2 | c.443del (p.Val148GlyfsTer26) c.245del (p.Val82GlyfsTer26) n.515del n.505del | ClinVar dbSNP |
2 | g.47410170T>A | CA346730475 | MSH2 | c.443T>A (p.Val148Glu) c.245T>A (p.Val82Glu) n.515T>A n.505T>A | ClinVar dbSNP |
2 | g.47410170T>C | CA346730476 | MSH2 | c.443T>C (p.Val148Ala) c.245T>C (p.Val82Ala) n.515T>C n.505T>C | ClinVar dbSNP |
2 | g.47410170T>G | CA346730477 | MSH2 | c.443T>G (p.Val148Gly) c.245T>G (p.Val82Gly) n.515T>G n.505T>G | |
2 | g.47410170T= | CA2495831182 | MSH2 | c.443T= (p.Val148=) c.245T= (p.Val82=) n.515T= n.505T= | |
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.47410171G>A | CA426119481 | MSH2 | c.444G>A (p.Val148=) c.246G>A (p.Val82=) n.516G>A n.506G>A | dbSNP |
2 | g.47410171G>C | CA426119482 | MSH2 | c.444G>C (p.Val148=) c.246G>C (p.Val82=) n.516G>C n.506G>C | ClinVar dbSNP |
2 | g.47410171G>T | CA426119483 | MSH2 | c.444G>T (p.Val148=) c.246G>T (p.Val82=) n.516G>T n.506G>T | dbSNP gnomAD v4 |
2 | g.47410172G>A | CA46677784 | MSH2 | c.445G>A (p.Gly149Ser) c.247G>A (p.Gly83Ser) n.517G>A n.507G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47410172G>C | CA346730478 | MSH2 | c.445G>C (p.Gly149Arg) c.247G>C (p.Gly83Arg) n.517G>C n.507G>C | ClinVar |
2 | g.47410172G= | CA2495831183 | MSH2 | c.445G= (p.Gly149=) c.247G= (p.Gly83=) n.517G= n.507G= | |
2 | g.47410172G>T | CA346730479 | MSH2 | c.445G>T (p.Gly149Cys) c.247G>T (p.Gly83Cys) n.517G>T n.507G>T | |
2 | g.47410173G>A | CA021170 | MSH2 | c.446G>A (p.Gly149Asp) c.248G>A (p.Gly83Asp) n.518G>A n.508G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47410173G>C | CA346730480 | MSH2 | c.446G>C (p.Gly149Ala) c.248G>C (p.Gly83Ala) n.518G>C n.508G>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410173G= | CA2495831184 | MSH2 | c.446G= (p.Gly149=) c.248G= (p.Gly83=) n.518G= n.508G= | |
2 | g.47410173G>T | CA346730481 | MSH2 | c.446G>T (p.Gly149Val) c.248G>T (p.Gly83Val) n.518G>T n.508G>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410175_47410176del | CA2695200736 | MSH2 | c.448_449del (p.Val150Ter) c.250_251del (p.Val84Ter) n.520_521del n.510_511del | ClinVar |
2 | g.47410174T>A | CA426119485 | MSH2 | c.447T>A (p.Gly149=) c.249T>A (p.Gly83=) n.519T>A n.509T>A | dbSNP |
2 | g.47410174T>C | CA021173 | MSH2 | c.447T>C (p.Gly149=) c.249T>C (p.Gly83=) n.519T>C n.509T>C | ClinVar dbSNP |
2 | g.47410174T>G | CA426119486 | MSH2 | c.447T>G (p.Gly149=) c.249T>G (p.Gly83=) n.519T>G n.509T>G | dbSNP |
2 | g.47410174T= | CA2495831185 | MSH2 | c.447T= (p.Gly149=) c.249T= (p.Gly83=) n.519T= n.509T= | |
2 | g.47410175G>A | CA346730482 | MSH2 | c.448G>A (p.Val150Ile) c.250G>A (p.Val84Ile) n.520G>A n.510G>A | ClinVar dbSNP gnomAD v4 |
2 | g.47410175G>C | CA346730483 | MSH2 | c.448G>C (p.Val150Leu) c.250G>C (p.Val84Leu) n.520G>C n.510G>C | ClinVar dbSNP |
2 | g.47410175G= | CA2495831186 | MSH2 | c.448G= (p.Val150=) c.250G= (p.Val84=) n.520G= n.510G= | |
2 | g.47410175G>T | CA346730484 | MSH2 | c.448G>T (p.Val150Phe) c.250G>T (p.Val84Phe) n.520G>T n.510G>T | ClinVar dbSNP gnomAD v4 COSMIC |
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.47410176T>A | CA346730485 | MSH2 | c.449T>A (p.Val150Asp) c.251T>A (p.Val84Asp) n.521T>A n.511T>A | dbSNP |
2 | g.47410176T>C | CA346730486 | MSH2 | c.449T>C (p.Val150Ala) c.251T>C (p.Val84Ala) n.521T>C n.511T>C | dbSNP gnomAD v4 |
2 | g.47410176T>G | CA346730487 | MSH2 | c.449T>G (p.Val150Gly) c.251T>G (p.Val84Gly) n.521T>G n.511T>G | dbSNP gnomAD v4 |
2 | g.47410177del | CA2695200738 | MSH2 | c.450del (p.Met152CysfsTer22) c.252del (p.Met86CysfsTer22) n.522del n.512del | ClinVar |
2 | g.47410176_47410181delinsCGGACATTT | CA2831039079 | MSH2 | c.449_454delinsCGGACATTT (p.Val150_Met152delinsAlaAspIleLeu) c.251_256delinsCGGACATTT (p.Val84_Met86delinsAlaAspIleLeu) n.521_526delinsCGGACATTT n.511_516delinsCGGACATTT | |
2 | g.47410177T>A | CA426119491 | MSH2 | c.450T>A (p.Val150=) c.252T>A (p.Val84=) n.522T>A n.512T>A | |
2 | g.47410177T>C | CA426119490 | MSH2 | c.450T>C (p.Val150=) c.252T>C (p.Val84=) n.522T>C n.512T>C | |
2 | g.47410177T>G | CA426119489 | MSH2 | c.450T>G (p.Val150=) c.252T>G (p.Val84=) n.522T>G n.512T>G | |
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 |
2 | g.47410186C>A | CA426119495 | MSH2 | c.459C>A (p.Ser153=) c.261C>A (p.Ser87=) n.531C>A n.521C>A | dbSNP |
2 | g.47410186C= | CA2495831192 | MSH2 | c.459C= (p.Ser153=) c.261C= (p.Ser87=) n.531C= n.521C= | |
2 | g.47410186C>G | CA426119496 | MSH2 | c.459C>G (p.Ser153=) c.261C>G (p.Ser87=) n.531C>G n.521C>G | dbSNP gnomAD v4 |
2 | g.47410186C>T | CA021179 | MSH2 | c.459C>T (p.Ser153=) c.261C>T (p.Ser87=) n.531C>T n.521C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410187G>A | CA038871 | MSH2 | c.460G>A (p.Ala154Thr) c.262G>A (p.Ala88Thr) n.532G>A n.522G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410187G>C | CA346730516 | MSH2 | c.460G>C (p.Ala154Pro) c.262G>C (p.Ala88Pro) n.532G>C n.522G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410187G= | CA2495831193 | MSH2 | c.460G= (p.Ala154=) c.262G= (p.Ala88=) n.532G= n.522G= | |
2 | g.47410187G>T | CA346730518 | MSH2 | c.460G>T (p.Ala154Ser) c.262G>T (p.Ala88Ser) n.532G>T n.522G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410188C>A | CA346730520 | MSH2 | c.461C>A (p.Ala154Glu) c.263C>A (p.Ala88Glu) n.533C>A n.523C>A | dbSNP |
2 | g.47410188C= | CA2495831194 | MSH2 | c.461C= (p.Ala154=) c.263C= (p.Ala88=) n.533C= n.523C= | |
2 | g.47410188C>G | CA346730522 | MSH2 | c.461C>G (p.Ala154Gly) c.263C>G (p.Ala88Gly) n.533C>G n.523C>G | dbSNP |
2 | g.47410188C>T | CA346730524 | MSH2 | c.461C>T (p.Ala154Val) c.263C>T (p.Ala88Val) n.533C>T n.523C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410191_47410201del | CA2838032264 | MSH2 | c.464_474del (p.Val155GlufsTer19) c.266_276del (p.Val89GlufsTer19) n.536_546del n.526_536del | |
2 | g.47410189A= | CA2495831195 | MSH2 | c.462A= (p.Ala154=) c.264A= (p.Ala88=) n.534A= n.524A= | |
2 | g.47410189A>C | CA426119500 | MSH2 | c.462A>C (p.Ala154=) c.264A>C (p.Ala88=) n.534A>C n.524A>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410189A>G | CA426119501 | MSH2 | c.462A>G (p.Ala154=) c.264A>G (p.Ala88=) n.534A>G n.524A>G | ClinVar |
2 | g.47410189A>T | CA426119502 | MSH2 | c.462A>T (p.Ala154=) c.264A>T (p.Ala88=) n.534A>T n.524A>T | dbSNP |
2 | g.47410189_47410190delinsAG | CA2495831196 | MSH2 | c.462_463delinsAG (p.Ala154=) c.264_265delinsAG (p.Ala88=) n.534_535delinsAG n.524_525delinsAG | |
2 | g.47410190del | CA916080245 | MSH2 | c.463del (p.Val155LeufsTer19) c.265del (p.Val89LeufsTer19) n.535del n.525del | ClinVar dbSNP |
2 | g.47410190G>A | CA346730527 | MSH2 | c.463G>A (p.Val155Ile) c.265G>A (p.Val89Ile) n.535G>A n.525G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47410190G>C | CA346730528 | MSH2 | c.463G>C (p.Val155Leu) c.265G>C (p.Val89Leu) n.535G>C n.525G>C | dbSNP gnomAD v4 |
2 | g.47410190G= | CA2495831197 | MSH2 | c.463G= (p.Val155=) c.265G= (p.Val89=) n.535G= n.525G= | |
2 | g.47410190G>T | CA346730526 | MSH2 | c.463G>T (p.Val155Phe) c.265G>T (p.Val89Phe) n.535G>T n.525G>T | ClinVar dbSNP |
2 | g.47410191T>A | CA10577938 | MSH2 | c.464T>A (p.Val155Asp) c.266T>A (p.Val89Asp) n.536T>A n.526T>A | ClinVar dbSNP |
2 | g.47410191T>C | CA346730530 | MSH2 | c.464T>C (p.Val155Ala) c.266T>C (p.Val89Ala) n.536T>C n.526T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410191T>G | CA346730532 | MSH2 | c.464T>G (p.Val155Gly) c.266T>G (p.Val89Gly) n.536T>G n.526T>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410191T= | CA2495831198 | MSH2 | c.464T= (p.Val155=) c.266T= (p.Val89=) n.536T= n.526T= | |
2 | g.47410192dup | CA2580067659 | MSH2 | c.465dup (p.Asp156Ter) c.267dup (p.Asp90Ter) n.537dup n.527dup | ClinVar |
2 | g.47410191_47410193delinsTTG | CA2495831199 | MSH2 | c.464_466delinsTTG (p.Val155=) c.266_268delinsTTG (p.Val89=) n.536_538delinsTTG n.526_528delinsTTG | |
2 | g.47410192T>A | CA426119505 | MSH2 | c.465T>A (p.Val155=) c.267T>A (p.Val89=) n.537T>A n.527T>A | dbSNP |
2 | g.47410192T>C | CA426119506 | MSH2 | c.465T>C (p.Val155=) c.267T>C (p.Val89=) n.537T>C n.527T>C | dbSNP |
2 | g.47410192T>G | CA426119507 | MSH2 | c.465T>G (p.Val155=) c.267T>G (p.Val89=) n.537T>G n.527T>G | |
2 | g.47410192_47410193delinsA | CA645369182 | MSH2 | c.465_466delinsA (p.Asp156MetfsTer18) c.267_268delinsA (p.Asp90MetfsTer18) n.537_538delinsA n.527_528delinsA | ClinVar dbSNP |
2 | g.47410192_47410193delinsTG | CA2495831200 | MSH2 | c.465_466delinsTG (p.Val155=) c.267_268delinsTG (p.Val89=) n.537_538delinsTG n.527_528delinsTG | |
2 | g.47410193del | CA915943883 | MSH2 | c.466del (p.Asp156MetfsTer18) c.268del (p.Asp90MetfsTer18) n.538del n.528del | ClinVar dbSNP |
2 | g.47410193G>A | CA346730534 | MSH2 | c.466G>A (p.Asp156Asn) c.268G>A (p.Asp90Asn) n.538G>A n.528G>A | dbSNP |
2 | g.47410193G>C | CA346730536 | MSH2 | c.466G>C (p.Asp156His) c.268G>C (p.Asp90His) n.538G>C n.528G>C | ClinVar dbSNP |
2 | g.47410193G= | CA2495831201 | MSH2 | c.466G= (p.Asp156=) c.268G= (p.Asp90=) n.538G= n.528G= | |
2 | g.47410193G>T | CA346730538 | MSH2 | c.466G>T (p.Asp156Tyr) c.268G>T (p.Asp90Tyr) n.538G>T n.528G>T | |
2 | g.47410194A= | CA2495831202 | MSH2 | c.467A= (p.Asp156=) c.269A= (p.Asp90=) n.539A= n.529A= | |
2 | g.47410194A>C | CA346730543 | MSH2 | c.467A>C (p.Asp156Ala) c.269A>C (p.Asp90Ala) n.539A>C n.529A>C | |
2 | g.47410194A>G | CA346730542 | MSH2 | c.467A>G (p.Asp156Gly) c.269A>G (p.Asp90Gly) n.539A>G n.529A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410194A>T | CA346730540 | MSH2 | c.467A>T (p.Asp156Val) c.269A>T (p.Asp90Val) n.539A>T n.529A>T | ClinVar dbSNP |
2 | g.47410195T>A | CA346730547 | MSH2 | c.468T>A (p.Asp156Glu) c.270T>A (p.Asp90Glu) n.540T>A n.530T>A | |
2 | g.47410195T>C | CA426119509 | MSH2 | c.468T>C (p.Asp156=) c.270T>C (p.Asp90=) n.540T>C n.530T>C | |
2 | g.47410195T>G | CA346730548 | MSH2 | c.468T>G (p.Asp156Glu) c.270T>G (p.Asp90Glu) n.540T>G n.530T>G | |
2 | g.47410195_47410198delinsTGGC | CA2495831203 | MSH2 | c.468_471delinsTGGC (p.Asp156=) c.270_273delinsTGGC (p.Asp90=) n.540_543delinsTGGC n.530_533delinsTGGC | |
2 | g.47410196G>A | CA346730551 | MSH2 | c.469G>A (p.Gly157Ser) c.271G>A (p.Gly91Ser) n.541G>A n.531G>A | |
2 | g.47410196G>C | CA346730553 | MSH2 | c.469G>C (p.Gly157Arg) c.271G>C (p.Gly91Arg) n.541G>C n.531G>C | dbSNP |
2 | g.47410196G>T | CA346730555 | MSH2 | c.469G>T (p.Gly157Cys) c.271G>T (p.Gly91Cys) n.541G>T n.531G>T | |
2 | g.47410197del | CA2739274403 | MSH2 | c.470del (p.Gly157AlafsTer17) c.272del (p.Gly91AlafsTer17) n.542del n.532del | ClinVar |
2 | g.47410196_47410198del | CA038882 | MSH2 | c.469_471del (p.Gly157del) c.271_273del (p.Gly91del) n.541_543del n.531_533del | dbSNP ExAC gnomAD v2 |
2 | g.47410197G>A | CA346730558 | MSH2 | c.470G>A (p.Gly157Asp) c.272G>A (p.Gly91Asp) n.542G>A n.532G>A | |
2 | g.47410197G>C | CA038898 | MSH2 | c.470G>C (p.Gly157Ala) c.272G>C (p.Gly91Ala) n.542G>C n.532G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410197G= | CA2495831204 | MSH2 | c.470G= (p.Gly157=) c.272G= (p.Gly91=) n.542G= n.532G= | |
2 | g.47410197G>T | CA346730559 | MSH2 | c.470G>T (p.Gly157Val) c.272G>T (p.Gly91Val) n.542G>T n.532G>T | ClinVar dbSNP |
2 | g.47410198C>A | CA021182 | MSH2 | c.471C>A (p.Gly157=) c.273C>A (p.Gly91=) n.543C>A n.533C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410198C= | CA2495831205 | MSH2 | c.471C= (p.Gly157=) c.273C= (p.Gly91=) n.543C= n.533C= | |
2 | g.47410198C>G | CA426119510 | MSH2 | c.471C>G (p.Gly157=) c.273C>G (p.Gly91=) n.543C>G n.533C>G | |
2 | g.47410198C>T | CA426119511 | MSH2 | c.471C>T (p.Gly157=) c.273C>T (p.Gly91=) n.543C>T n.533C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47410199C>A | CA346730563 | MSH2 | c.472C>A (p.Gln158Lys) c.274C>A (p.Gln92Lys) n.544C>A n.534C>A | dbSNP |
2 | g.47410199C= | CA2495831206 | MSH2 | c.472C= (p.Gln158=) c.274C= (p.Gln92=) n.544C= n.534C= | |
2 | g.47410199C>G | CA346730565 | MSH2 | c.472C>G (p.Gln158Glu) c.274C>G (p.Gln92Glu) n.544C>G n.534C>G | dbSNP gnomAD v4 |
2 | g.47410199C>T | CA021185 | MSH2 | c.472C>T (p.Gln158Ter) c.274C>T (p.Gln92Ter) n.544C>T n.534C>T | ClinVar dbSNP |
2 | g.47410200A= | CA2495831207 | MSH2 | c.473A= (p.Gln158=) c.275A= (p.Gln92=) n.545A= n.535A= | |
2 | g.47410200A>C | CA346730568 | MSH2 | c.473A>C (p.Gln158Pro) c.275A>C (p.Gln92Pro) n.545A>C n.535A>C | |
2 | g.47410200A>G | CA346730571 | MSH2 | c.473A>G (p.Gln158Arg) c.275A>G (p.Gln92Arg) n.545A>G n.535A>G | ClinVar dbSNP |
2 | g.47410200A>T | CA346730572 | MSH2 | c.473A>T (p.Gln158Leu) c.275A>T (p.Gln92Leu) n.545A>T n.535A>T | |
2 | g.47410201del | CA2580067663 | MSH2 | c.474del (p.Arg159AspfsTer15) c.276del (p.Arg93AspfsTer15) n.546del n.536del | ClinVar |
2 | g.47410201G>A | CA426119512 | MSH2 | c.474G>A (p.Gln158=) c.276G>A (p.Gln92=) n.546G>A n.536G>A | dbSNP |
2 | g.47410201G>C | CA346730575 | MSH2 | c.474G>C (p.Gln158His) c.276G>C (p.Gln92His) n.546G>C n.536G>C | dbSNP |
2 | g.47410201G= | CA2495831208 | MSH2 | c.474G= (p.Gln158=) c.276G= (p.Gln92=) n.546G= n.536G= | |
2 | g.47410201G>T | CA346730576 | MSH2 | c.474G>T (p.Gln158His) c.276G>T (p.Gln92His) n.546G>T n.536G>T | dbSNP |
2 | g.47410201_47410202delinsGA | CA2495831209 | MSH2 | c.474_475delinsGA (p.Gln158=) c.276_277delinsGA (p.Gln92=) n.546_547delinsGA n.536_537delinsGA | |
2 | g.47410202_47410208del | CA2580067664 | MSH2 | c.475_481del (p.Arg159LeufsTer13) c.277_283del (p.Arg93LeufsTer13) n.547_553del n.537_543del | ClinVar |
2 | g.47410202del | CA658795728 | MSH2 | c.475del (p.Arg159AspfsTer15) c.277del (p.Arg93AspfsTer15) n.547del n.537del | ClinVar dbSNP |
2 | g.47410202A>C | CA426119513 | MSH2 | c.475A>C (p.Arg159=) c.277A>C (p.Arg93=) n.547A>C n.537A>C | gnomAD v4 |
2 | g.47410202A>G | CA346730579 | MSH2 | c.475A>G (p.Arg159Gly) c.277A>G (p.Arg93Gly) n.547A>G n.537A>G | |
2 | g.47410202A>T | CA346730580 | MSH2 | c.475A>T (p.Arg159Ter) c.277A>T (p.Arg93Ter) n.547A>T n.537A>T | dbSNP |
2 | g.47410202dup | CA273850 | MSH2 | c.475dup (p.Arg159LysfsTer19) c.277dup (p.Arg93LysfsTer19) n.547dup n.537dup | ClinVar dbSNP |
2 | g.47410203G>A | CA346730586 | MSH2 | c.476G>A (p.Arg159Lys) c.278G>A (p.Arg93Lys) n.548G>A n.538G>A | ClinVar dbSNP |
2 | g.47410203G>C | CA346730584 | MSH2 | c.476G>C (p.Arg159Thr) c.278G>C (p.Arg93Thr) n.548G>C n.538G>C | |
2 | g.47410203G= | CA2495831210 | MSH2 | c.476G= (p.Arg159=) c.278G= (p.Arg93=) n.548G= n.538G= | |
2 | g.47410203G>T | CA021189 | MSH2 | c.476G>T (p.Arg159Ile) c.278G>T (p.Arg93Ile) n.548G>T n.538G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410204A= | CA2495831211 | MSH2 | c.477A= (p.Arg159=) c.279A= (p.Arg93=) n.549A= n.539A= | |
2 | g.47410204A>C | CA346730588 | MSH2 | c.477A>C (p.Arg159Ser) c.279A>C (p.Arg93Ser) n.549A>C n.539A>C | dbSNP |
2 | g.47410204A>G | CA426119514 | MSH2 | c.477A>G (p.Arg159=) c.279A>G (p.Arg93=) n.549A>G n.539A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410204A>T | CA346730590 | MSH2 | c.477A>T (p.Arg159Ser) c.279A>T (p.Arg93Ser) n.549A>T n.539A>T | ClinVar dbSNP |
2 | g.47410205_47410206del | CA2499216011 | MSH2 | c.478_479del (p.Gln160GlyfsTer17) c.280_281del (p.Gln94GlyfsTer17) n.550_551del n.540_541del | ClinVar dbSNP |
2 | g.47410205C>A | CA346730592 | MSH2 | c.478C>A (p.Gln160Lys) c.280C>A (p.Gln94Lys) n.550C>A n.540C>A | ClinVar dbSNP |
2 | g.47410205C= | CA2495831212 | MSH2 | c.478C= (p.Gln160=) c.280C= (p.Gln94=) n.550C= n.540C= | |
2 | g.47410205C>G | CA346730594 | MSH2 | c.478C>G (p.Gln160Glu) c.280C>G (p.Gln94Glu) n.550C>G n.540C>G | ClinVar dbSNP |
2 | g.47410205C>T | CA021192 | MSH2 | c.478C>T (p.Gln160Ter) c.280C>T (p.Gln94Ter) n.550C>T n.540C>T | ClinVar dbSNP |