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.47410058_47410059del | CA2658946054 | MSH2 | c.367-36_367-35del (n.367-36_367-35del) c.169-36_169-35del (n.169-36_169-35del) n.439-36_439-35del n.429-36_429-35del | gnomAD v4 |
2 | g.47410059G>A | CA2699273474 | MSH2 | c.367-35G>A (n.367-35G>A) c.169-35G>A (n.169-35G>A) n.439-35G>A n.429-35G>A | dbSNP |
2 | g.47410059G>C | CA2699273493 | MSH2 | c.367-35G>C (n.367-35G>C) c.169-35G>C (n.169-35G>C) n.439-35G>C n.429-35G>C | dbSNP |
2 | g.47410059G>T | CA2699273495 | MSH2 | c.367-35G>T (n.367-35G>T) c.169-35G>T (n.169-35G>T) n.439-35G>T n.429-35G>T | dbSNP |
2 | g.47410060T>A | CA2699273507 | MSH2 | c.367-34T>A (n.367-34T>A) c.169-34T>A (n.169-34T>A) n.439-34T>A n.429-34T>A | dbSNP |
2 | g.47410060T>C | CA2658946055 | MSH2 | c.367-34T>C (n.367-34T>C) c.169-34T>C (n.169-34T>C) n.439-34T>C n.429-34T>C | gnomAD v4 |
2 | g.47410062del | CA2699273508 | MSH2 | c.367-32del (n.367-32del) c.169-32del (n.169-32del) n.439-32del n.429-32del | dbSNP |
2 | g.47410061T>A | CA2699273522 | MSH2 | c.367-33T>A (n.367-33T>A) c.169-33T>A (n.169-33T>A) n.439-33T>A n.429-33T>A | dbSNP |
2 | g.47410061T>C | CA2699273523 | MSH2 | c.367-33T>C (n.367-33T>C) c.169-33T>C (n.169-33T>C) n.439-33T>C n.429-33T>C | dbSNP |
2 | g.47410061T>G | CA2699273524 | MSH2 | c.367-33T>G (n.367-33T>G) c.169-33T>G (n.169-33T>G) n.439-33T>G n.429-33T>G | dbSNP |
2 | g.47410062T>A | CA2699273526 | MSH2 | c.367-32T>A (n.367-32T>A) c.169-32T>A (n.169-32T>A) n.439-32T>A n.429-32T>A | dbSNP |
2 | g.47410062T>C | CA2658946056 | MSH2 | c.367-32T>C (n.367-32T>C) c.169-32T>C (n.169-32T>C) n.439-32T>C n.429-32T>C | dbSNP gnomAD v4 |
2 | g.47410062T>G | CA2576960554 | MSH2 | c.367-32T>G (n.367-32T>G) c.169-32T>G (n.169-32T>G) n.439-32T>G n.429-32T>G | |
2 | g.47410063G>A | CA038225 | MSH2 | c.367-31G>A (n.367-31G>A) c.169-31G>A (n.169-31G>A) n.439-31G>A n.429-31G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410063G>C | CA2699080973 | MSH2 | c.367-31G>C (n.367-31G>C) c.169-31G>C (n.169-31G>C) n.439-31G>C n.429-31G>C | dbSNP |
2 | g.47410063G= | CA2495831096 | MSH2 | c.367-31G= (n.367-31G=) c.169-31G= (n.169-31G=) n.439-31G= n.429-31G= | |
2 | g.47410063G>T | CA532704951 | MSH2 | c.367-31G>T (n.367-31G>T) c.169-31G>T (n.169-31G>T) n.439-31G>T n.429-31G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410064T>A | CA038213 | MSH2 | c.367-30T>A (n.367-30T>A) c.169-30T>A (n.169-30T>A) n.439-30T>A n.429-30T>A | dbSNP ExAC gnomAD v2 |
2 | g.47410064T>G | CA46677398 | MSH2 | c.367-30T>G (n.367-30T>G) c.169-30T>G (n.169-30T>G) n.439-30T>G n.429-30T>G | dbSNP gnomAD v4 |
2 | g.47410064T= | CA2495831097 | MSH2 | c.367-30T= (n.367-30T=) c.169-30T= (n.169-30T=) n.439-30T= n.429-30T= | |
2 | g.47410066A= | CA2495831098 | MSH2 | c.367-28A= (n.367-28A=) c.169-28A= (n.169-28A=) n.439-28A= n.429-28A= | |
2 | g.47410066A>G | CA038204 | MSH2 | c.367-28A>G (n.367-28A>G) c.169-28A>G (n.169-28A>G) n.439-28A>G n.429-28A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410066A>T | CA2699080511 | MSH2 | c.367-28A>T (n.367-28A>T) c.169-28A>T (n.169-28A>T) n.439-28A>T n.429-28A>T | dbSNP |
2 | g.47410067A= | CA2495831099 | MSH2 | c.367-27A= (n.367-27A=) c.169-27A= (n.169-27A=) n.439-27A= n.429-27A= | |
2 | g.47410067A>C | CA038190 | MSH2 | c.367-27A>C (n.367-27A>C) c.169-27A>C (n.169-27A>C) n.439-27A>C n.429-27A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410067A>G | CA2658946057 | MSH2 | c.367-27A>G (n.367-27A>G) c.169-27A>G (n.169-27A>G) n.439-27A>G n.429-27A>G | gnomAD v4 |
2 | g.47410067A>T | CA2699077157 | MSH2 | c.367-27A>T (n.367-27A>T) c.169-27A>T (n.169-27A>T) n.439-27A>T n.429-27A>T | dbSNP |
2 | g.47410068A= | CA2495831100 | MSH2 | c.367-26A= (n.367-26A=) c.169-26A= (n.169-26A=) n.439-26A= n.429-26A= | |
2 | g.47410068A>G | CA532704952 | MSH2 | c.367-26A>G (n.367-26A>G) c.169-26A>G (n.169-26A>G) n.439-26A>G n.429-26A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410068A>T | CA2658946058 | MSH2 | c.367-26A>T (n.367-26A>T) c.169-26A>T (n.169-26A>T) n.439-26A>T n.429-26A>T | gnomAD v4 |
2 | g.47410069T>C | CA2699273527 | MSH2 | c.367-25T>C (n.367-25T>C) c.169-25T>C (n.169-25T>C) n.439-25T>C n.429-25T>C | dbSNP |
2 | g.47410073del | CA2699273528 | MSH2 | c.367-21del (n.367-21del) c.169-21del (n.169-21del) n.439-21del n.429-21del | dbSNP |
2 | g.47410071T>C | CA2699273601 | MSH2 | c.367-23T>C (n.367-23T>C) c.169-23T>C (n.169-23T>C) n.439-23T>C n.429-23T>C | dbSNP |
2 | g.47410073T>A | CA038179 | MSH2 | c.367-21T>A (n.367-21T>A) c.169-21T>A (n.169-21T>A) n.439-21T>A n.429-21T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410073T= | CA2495831101 | MSH2 | c.367-21T= (n.367-21T=) c.169-21T= (n.169-21T=) n.439-21T= n.429-21T= | |
2 | g.47410074A= | CA2495831102 | MSH2 | c.367-20A= (n.367-20A=) c.169-20A= (n.169-20A=) n.439-20A= n.429-20A= | |
2 | g.47410074A>G | CA2495831103 | MSH2 | c.367-20A>G (n.367-20A>G) c.169-20A>G (n.169-20A>G) n.439-20A>G n.429-20A>G | dbSNP gnomAD v4 |
2 | g.47410074A>T | CA658683184 | MSH2 | c.367-20A>T (n.367-20A>T) c.169-20A>T (n.169-20A>T) n.439-20A>T n.429-20A>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410077del | CA2573134688 | MSH2 | c.367-17del (n.367-17del) c.169-17del (n.169-17del) n.439-17del n.429-17del | ClinVar dbSNP |
2 | g.47410075A= | CA2495831104 | MSH2 | c.367-19A= (n.367-19A=) c.169-19A= (n.169-19A=) n.439-19A= n.429-19A= | |
2 | g.47410075A>G | CA2658946059 | MSH2 | c.367-19A>G (n.367-19A>G) c.169-19A>G (n.169-19A>G) n.439-19A>G n.429-19A>G | gnomAD v4 |
2 | g.47410075A>T | CA021067 | MSH2 | c.367-19A>T (n.367-19A>T) c.169-19A>T (n.169-19A>T) n.439-19A>T n.429-19A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410076A= | CA2495831105 | MSH2 | c.367-18A= (n.367-18A=) c.169-18A= (n.169-18A=) n.439-18A= n.429-18A= | |
2 | g.47410076A>C | CA2658946060 | MSH2 | c.367-18A>C (n.367-18A>C) c.169-18A>C (n.169-18A>C) n.439-18A>C n.429-18A>C | dbSNP gnomAD v4 |
2 | g.47410076A>G | CA2658946061 | MSH2 | c.367-18A>G (n.367-18A>G) c.169-18A>G (n.169-18A>G) n.439-18A>G n.429-18A>G | gnomAD v4 |
2 | g.47410076A>T | CA1139656939 | MSH2 | c.367-18A>T (n.367-18A>T) c.169-18A>T (n.169-18A>T) n.439-18A>T n.429-18A>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410077_47410078delinsAT | CA2495831106 | MSH2 | c.367-17_367-16delinsAT (n.367-17_367-16delinsAT) c.169-17_169-16delinsAT (n.169-17_169-16delinsAT) n.439-17_439-16delinsAT n.429-17_429-16delinsAT | |
2 | g.47410078T>A | CA2699273945 | MSH2 | c.367-16T>A (n.367-16T>A) c.169-16T>A (n.169-16T>A) n.439-16T>A n.429-16T>A | dbSNP |
2 | g.47410081del | CA331580 | MSH2 | c.367-13del (n.367-13del) c.169-13del (n.169-13del) n.439-13del n.429-13del | dbSNP |
2 | g.47410079T>A | CA2699273950 | MSH2 | c.367-15T>A (n.367-15T>A) c.169-15T>A (n.169-15T>A) n.439-15T>A n.429-15T>A | dbSNP |
2 | g.47410080_47410088delinsTTATTTTTA | CA2495831107 | MSH2 | c.367-14_367-6delinsTTATTTTTA (n.367-14_367-6delinsTTATTTTTA) c.169-14_169-6delinsTTATTTTTA (n.169-14_169-6delinsTTATTTTTA) n.439-14_439-6delinsTTATTTTTA n.429-14_429-6delinsTTATTTTTA | |
2 | g.47410081T>A | CA2573134689 | MSH2 | c.367-13T>A (n.367-13T>A) c.169-13T>A (n.169-13T>A) n.439-13T>A n.429-13T>A | ClinVar dbSNP |
2 | g.47410081T>C | CA2573134690 | MSH2 | c.367-13T>C (n.367-13T>C) c.169-13T>C (n.169-13T>C) n.439-13T>C n.429-13T>C | ClinVar dbSNP |
2 | g.47410081_47410088delinsAATTTTT | CA16617556 | MSH2 | c.367-13_367-6delinsAATTTTT (n.367-13_367-6delinsAATTTTT) c.169-13_169-6delinsAATTTTT (n.169-13_169-6delinsAATTTTT) n.439-13_439-6delinsAATTTTT n.429-13_429-6delinsAATTTTT | ClinVar dbSNP |
2 | g.47410082A>G | CA2573134691 | MSH2 | c.367-12A>G (n.367-12A>G) c.169-12A>G (n.169-12A>G) n.439-12A>G n.429-12A>G | ClinVar dbSNP |
2 | g.47410083T>A | CA2699274458 | MSH2 | c.367-11T>A (n.367-11T>A) c.169-11T>A (n.169-11T>A) n.439-11T>A n.429-11T>A | dbSNP |
2 | g.47410083T>C | CA2740092845 | MSH2 | c.367-11T>C (n.367-11T>C) c.169-11T>C (n.169-11T>C) n.439-11T>C n.429-11T>C | ClinVar |
2 | g.47410084T>A | CA2499216004 | MSH2 | c.367-10T>A (n.367-10T>A) c.169-10T>A (n.169-10T>A) n.439-10T>A n.429-10T>A | ClinVar dbSNP |
2 | g.47410084T>G | CA2573051951 | MSH2 | c.367-10T>G (n.367-10T>G) c.169-10T>G (n.169-10T>G) n.439-10T>G n.429-10T>G | ClinVar dbSNP |
2 | g.47410086T>C | CA2699274504 | MSH2 | c.367-8T>C (n.367-8T>C) c.169-8T>C (n.169-8T>C) n.439-8T>C n.429-8T>C | dbSNP |
2 | g.47410088_47410097dup | CA2586969160 | MSH2 | c.367-6_370dup c.169-6_172dup n.439-6_442dup n.429-6_432dup | |
2 | g.47410087T>A | CA2699274505 | MSH2 | c.367-7T>A (n.367-7T>A) c.169-7T>A (n.169-7T>A) n.439-7T>A n.429-7T>A | dbSNP |
2 | g.47410087T>C | CA2697548101 | MSH2 | c.367-7T>C (n.367-7T>C) c.169-7T>C (n.169-7T>C) n.439-7T>C n.429-7T>C | ClinVar |
2 | g.47410088del | CA2573134692 | MSH2 | c.367-6del (n.367-6del) c.169-6del (n.169-6del) n.439-6del n.429-6del | ClinVar dbSNP gnomAD v4 |
2 | g.47410088A= | CA2495831108 | MSH2 | c.367-6A= (n.367-6A=) c.169-6A= (n.169-6A=) n.439-6A= n.429-6A= | |
2 | g.47410088A>G | CA038274 | MSH2 | c.367-6A>G (n.367-6A>G) c.169-6A>G (n.169-6A>G) n.439-6A>G n.429-6A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410088A>T | CA038285 | MSH2 | c.367-6A>T (n.367-6A>T) c.169-6A>T (n.169-6A>T) n.439-6A>T n.429-6A>T | dbSNP ExAC gnomAD v2 |
2 | g.47410089C= | CA2495831109 | MSH2 | c.367-5C= (n.367-5C=) c.169-5C= (n.169-5C=) n.439-5C= n.429-5C= | |
2 | g.47410089C>G | CA021072 | MSH2 | c.367-5C>G (n.367-5C>G) c.169-5C>G (n.169-5C>G) n.439-5C>G n.429-5C>G | ClinVar dbSNP gnomAD v4 |
2 | g.47410089C>T | CA021075 | MSH2 | c.367-5C>T (n.367-5C>T) c.169-5C>T (n.169-5C>T) n.439-5C>T n.429-5C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410090T>C | CA915943882 | MSH2 | c.367-4T>C (n.367-4T>C) c.169-4T>C (n.169-4T>C) n.439-4T>C n.429-4T>C | ClinVar dbSNP gnomAD v4 |
2 | g.47410090T>G | CA10577934 | MSH2 | c.367-4T>G (n.367-4T>G) c.169-4T>G (n.169-4T>G) n.439-4T>G n.429-4T>G | ClinVar dbSNP |
2 | g.47410090T= | CA2495831110 | MSH2 | c.367-4T= (n.367-4T=) c.169-4T= (n.169-4T=) n.439-4T= n.429-4T= | |
2 | g.47410091del | CA2580067486 | MSH2 | c.367-3del (n.367-3del) c.169-3del (n.169-3del) n.439-3del n.429-3del | 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.47410091T>A | CA2695200733 | MSH2 | c.367-3T>A (n.367-3T>A) c.169-3T>A (n.169-3T>A) n.439-3T>A n.429-3T>A | ClinVar |
2 | g.47410091T>C | CA913187946 | MSH2 | c.367-3T>C (n.367-3T>C) c.169-3T>C (n.169-3T>C) n.439-3T>C n.429-3T>C | ClinVar dbSNP |
2 | g.47410091T>G | CA891842929 | MSH2 | c.367-3T>G (n.367-3T>G) c.169-3T>G (n.169-3T>G) n.439-3T>G n.429-3T>G | ClinVar dbSNP |
2 | g.47410091T= | CA2495831111 | MSH2 | c.367-3T= (n.367-3T=) c.169-3T= (n.169-3T=) n.439-3T= n.429-3T= | |
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.47410092A>C | CA346730328 | MSH2 | c.367-2A>C (n.367-2A>C) c.169-2A>C (n.169-2A>C) n.439-2A>C n.429-2A>C | |
2 | g.47410092A>G | CA346730329 | MSH2 | c.367-2A>G (n.367-2A>G) c.169-2A>G (n.169-2A>G) n.439-2A>G n.429-2A>G | ClinVar |
2 | g.47410092A>T | CA346730330 | MSH2 | c.367-2A>T (n.367-2A>T) c.169-2A>T (n.169-2A>T) n.439-2A>T n.429-2A>T | dbSNP |
2 | g.47410092_47410093delinsAG | CA2495831112 | MSH2 | c.367-2_367-1delinsAG (n.367-2_367-1delinsAG) c.169-2_169-1delinsAG (n.169-2_169-1delinsAG) n.439-2_439-1delinsAG n.429-2_429-1delinsAG | |
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.47410093G>A | CA021069 | MSH2 | c.367-1G>A (n.367-1G>A) c.169-1G>A (n.169-1G>A) n.439-1G>A n.429-1G>A | ClinVar dbSNP |
2 | g.47410093G>C | CA346730331 | MSH2 | c.367-1G>C (n.367-1G>C) c.169-1G>C (n.169-1G>C) n.439-1G>C n.429-1G>C | ClinVar dbSNP |
2 | g.47410093G= | CA2495831113 | MSH2 | c.367-1G= (n.367-1G=) c.169-1G= (n.169-1G=) n.439-1G= n.429-1G= | |
2 | g.47410093G>T | CA038168 | MSH2 | c.367-1G>T (n.367-1G>T) c.169-1G>T (n.169-1G>T) n.439-1G>T n.429-1G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410094dup | CA2580067489 | MSH2 | c.367dup c.169dup n.439dup n.429dup | ClinVar |
2 | g.47410094del | CA1139656940 | MSH2 | c.367del c.169del n.439del n.429del | ClinVar dbSNP |
2 | g.47410093_47410097del | CA2739274402 | MSH2 | c.367-1_370del c.169-1_172del n.439-1_442del n.429-1_432del | ClinVar |
2 | g.47410094G>A | CA038305 | MSH2 | c.367G>A (p.Ala123Thr) c.169G>A (p.Ala57Thr) n.439G>A n.429G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410094G>C | CA346730332 | MSH2 | c.367G>C (p.Ala123Pro) c.169G>C (p.Ala57Pro) n.439G>C n.429G>C | dbSNP |
2 | g.47410094G= | CA2495831114 | MSH2 | c.367G= (p.Ala123=) c.169G= (p.Ala57=) n.439G= n.429G= | |
2 | g.47410094G>T | CA346730333 | MSH2 | c.367G>T (p.Ala123Ser) c.169G>T (p.Ala57Ser) n.439G>T n.429G>T | ClinVar dbSNP |
2 | g.47410094_47410095delinsGC | CA2495831115 | MSH2 | c.367_368delinsGC (p.Ala123=) c.169_170delinsGC (p.Ala57=) n.439_440delinsGC n.429_430delinsGC | |
2 | g.47410095del | CA021083 | MSH2 | c.368del (p.Ala123ValfsTer?) c.170del (p.Ala57ValfsTer?) n.440del n.430del | ClinVar dbSNP |
2 | g.47410095C>A | CA346730334 | MSH2 | c.368C>A (p.Ala123Asp) c.170C>A (p.Ala57Asp) n.440C>A n.430C>A | dbSNP |
2 | g.47410095C= | CA2495831116 | MSH2 | c.368C= (p.Ala123=) c.170C= (p.Ala57=) n.440C= n.430C= | |
2 | g.47410095C>G | CA021080 | MSH2 | c.368C>G (p.Ala123Gly) c.170C>G (p.Ala57Gly) n.440C>G n.430C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410095C>T | CA038326 | MSH2 | c.368C>T (p.Ala123Val) c.170C>T (p.Ala57Val) n.440C>T n.430C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410096T>A | CA426119403 | MSH2 | c.369T>A (p.Ala123=) c.171T>A (p.Ala57=) n.441T>A n.431T>A | dbSNP |
2 | g.47410096T>C | CA426119402 | MSH2 | c.369T>C (p.Ala123=) c.171T>C (p.Ala57=) n.441T>C n.431T>C | ClinVar |
2 | g.47410096T>G | CA426119401 | MSH2 | c.369T>G (p.Ala123=) c.171T>G (p.Ala57=) n.441T>G n.431T>G | ClinVar |
2 | g.47410097del | CA2580067492 | MSH2 | c.370del (p.Ser124LeufsTer?) c.172del (p.Ser58LeufsTer?) n.442del n.432del | ClinVar |
2 | g.47410097T>A | CA346730335 | MSH2 | c.370T>A (p.Ser124Thr) c.172T>A (p.Ser58Thr) n.442T>A n.432T>A | ClinVar dbSNP |
2 | g.47410097T>C | CA346730336 | MSH2 | c.370T>C (p.Ser124Pro) c.172T>C (p.Ser58Pro) n.442T>C n.432T>C | dbSNP |
2 | g.47410097T>G | CA346730337 | MSH2 | c.370T>G (p.Ser124Ala) c.172T>G (p.Ser58Ala) n.442T>G n.432T>G | |
2 | g.47410098C>A | CA346730338 | MSH2 | c.371C>A (p.Ser124Tyr) c.173C>A (p.Ser58Tyr) n.443C>A n.433C>A | dbSNP |
2 | g.47410098C= | CA2495831117 | MSH2 | c.371C= (p.Ser124=) c.173C= (p.Ser58=) n.443C= n.433C= | |
2 | g.47410098C>G | CA346730339 | MSH2 | c.371C>G (p.Ser124Cys) c.173C>G (p.Ser58Cys) n.443C>G n.433C>G | ClinVar dbSNP |
2 | g.47410098C>T | CA346730340 | MSH2 | c.371C>T (p.Ser124Phe) c.173C>T (p.Ser58Phe) n.443C>T n.433C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410100_47410102del | CA2573134693 | MSH2 | c.373_375del (p.Pro125del) c.175_177del (p.Pro59del) n.445_447del n.435_437del | ClinVar dbSNP |
2 | g.47410099T>A | CA426119406 | MSH2 | c.372T>A (p.Ser124=) c.174T>A (p.Ser58=) n.444T>A n.434T>A | |
2 | g.47410099T>C | CA426119407 | MSH2 | c.372T>C (p.Ser124=) c.174T>C (p.Ser58=) n.444T>C n.434T>C | gnomAD v4 |
2 | g.47410099T>G | CA426119408 | MSH2 | c.372T>G (p.Ser124=) c.174T>G (p.Ser58=) n.444T>G n.434T>G | |
2 | g.47410100C>A | CA346730341 | MSH2 | c.373C>A (p.Pro125Thr) c.175C>A (p.Pro59Thr) n.445C>A n.435C>A | ClinVar dbSNP |
2 | g.47410100C= | CA2495831118 | MSH2 | c.373C= (p.Pro125=) c.175C= (p.Pro59=) n.445C= n.435C= | |
2 | g.47410100C>G | CA346730342 | MSH2 | c.373C>G (p.Pro125Ala) c.175C>G (p.Pro59Ala) n.445C>G n.435C>G | ClinVar dbSNP |
2 | g.47410100C>T | CA038365 | MSH2 | c.373C>T (p.Pro125Ser) c.175C>T (p.Pro59Ser) n.445C>T n.435C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47410101del | CA2580067495 | MSH2 | c.374del (p.Pro125LeufsTer?) c.176del (p.Pro59LeufsTer?) n.446del n.436del | ClinVar |
2 | g.47410101C>A | CA346730343 | MSH2 | c.374C>A (p.Pro125His) c.176C>A (p.Pro59His) n.446C>A n.436C>A | gnomAD v4 |
2 | g.47410101C= | CA2495831119 | MSH2 | c.374C= (p.Pro125=) c.176C= (p.Pro59=) n.446C= n.436C= | |
2 | g.47410101C>G | CA346730344 | MSH2 | c.374C>G (p.Pro125Arg) c.176C>G (p.Pro59Arg) n.446C>G n.436C>G | ClinVar dbSNP |
2 | g.47410101C>T | CA10577935 | MSH2 | c.374C>T (p.Pro125Leu) c.176C>T (p.Pro59Leu) n.446C>T n.436C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47410102T>A | CA426119410 | MSH2 | c.375T>A (p.Pro125=) c.177T>A (p.Pro59=) n.447T>A n.437T>A | |
2 | g.47410102T>C | CA426119411 | MSH2 | c.375T>C (p.Pro125=) c.177T>C (p.Pro59=) n.447T>C n.437T>C | ClinVar |
2 | g.47410102T>G | CA426119412 | MSH2 | c.375T>G (p.Pro125=) c.177T>G (p.Pro59=) n.447T>G n.437T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47410102T= | CA2495831120 | MSH2 | c.375T= (p.Pro125=) c.177T= (p.Pro59=) n.447T= n.437T= | |
2 | g.47410103G>A | CA021086 | MSH2 | c.376G>A (p.Gly126Ser) c.178G>A (p.Gly60Ser) n.448G>A n.438G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47410103G>C | CA16042055 | MSH2 | c.376G>C (p.Gly126Arg) c.178G>C (p.Gly60Arg) n.448G>C n.438G>C | ClinVar dbSNP |
2 | g.47410103G= | CA2495831121 | MSH2 | c.376G= (p.Gly126=) c.178G= (p.Gly60=) n.448G= n.438G= | |
2 | g.47410103G>T | CA346730345 | MSH2 | c.376G>T (p.Gly126Cys) c.178G>T (p.Gly60Cys) n.448G>T n.438G>T | dbSNP |
2 | g.47410104del | CA2499216009 | MSH2 | c.377del (p.Gly126AlafsTer?) c.179del (p.Gly60AlafsTer?) n.449del n.439del | ClinVar dbSNP |
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.47410104G>A | CA346730346 | MSH2 | c.377G>A (p.Gly126Asp) c.179G>A (p.Gly60Asp) n.449G>A n.439G>A | ClinVar dbSNP |
2 | g.47410104G>C | CA346730347 | MSH2 | c.377G>C (p.Gly126Ala) c.179G>C (p.Gly60Ala) n.449G>C n.439G>C | dbSNP |
2 | g.47410104G= | CA2495831122 | MSH2 | c.377G= (p.Gly126=) c.179G= (p.Gly60=) n.449G= n.439G= | |
2 | g.47410104G>T | CA346730348 | MSH2 | c.377G>T (p.Gly126Val) c.179G>T (p.Gly60Val) n.449G>T n.439G>T | ClinVar dbSNP |
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 |