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.47409628T>C | CA46676938 | MSH2 | c.367-466T>C (n.367-466T>C) c.169-466T>C (n.169-466T>C) n.439-466T>C n.429-466T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47409628T= | CA2495830821 | MSH2 | c.367-466T= (n.367-466T=) c.169-466T= (n.169-466T=) n.439-466T= n.429-466T= | |
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.47409631G>A | CA46676950 | MSH2 | c.367-463G>A (n.367-463G>A) c.169-463G>A (n.169-463G>A) n.439-463G>A n.429-463G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47409631G>C | CA2749801206 | MSH2 | c.367-463G>C (n.367-463G>C) c.169-463G>C (n.169-463G>C) n.439-463G>C n.429-463G>C | |
2 | g.47409631G= | CA2495830822 | MSH2 | c.367-463G= (n.367-463G=) c.169-463G= (n.169-463G=) n.439-463G= n.429-463G= | |
2 | g.47409633A= | CA2495830823 | MSH2 | c.367-461A= (n.367-461A=) c.169-461A= (n.169-461A=) n.439-461A= n.429-461A= | |
2 | g.47409633A>G | CA1030257665 | MSH2 | c.367-461A>G (n.367-461A>G) c.169-461A>G (n.169-461A>G) n.439-461A>G n.429-461A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47409637C= | CA2495830824 | MSH2 | c.367-457C= (n.367-457C=) c.169-457C= (n.169-457C=) n.439-457C= n.429-457C= | |
2 | g.47409637C>G | CA532343013 | MSH2 | c.367-457C>G (n.367-457C>G) c.169-457C>G (n.169-457C>G) n.439-457C>G n.429-457C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47409637C>T | CA46676955 | MSH2 | c.367-457C>T (n.367-457C>T) c.169-457C>T (n.169-457C>T) n.439-457C>T n.429-457C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47409640G>A | CA1030257672 | MSH2 | c.367-454G>A (n.367-454G>A) c.169-454G>A (n.169-454G>A) n.439-454G>A n.429-454G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47409640G= | CA2495830825 | MSH2 | c.367-454G= (n.367-454G=) c.169-454G= (n.169-454G=) n.439-454G= n.429-454G= | |
2 | g.47409641C>A | CA46676966 | MSH2 | c.367-453C>A (n.367-453C>A) c.169-453C>A (n.169-453C>A) n.439-453C>A n.429-453C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47409641C= | CA2495830826 | MSH2 | c.367-453C= (n.367-453C=) c.169-453C= (n.169-453C=) n.439-453C= n.429-453C= | |
2 | g.47409641C>G | CA2495830827 | MSH2 | c.367-453C>G (n.367-453C>G) c.169-453C>G (n.169-453C>G) n.439-453C>G n.429-453C>G | dbSNP |
2 | g.47409641C>T | CA532343014 | MSH2 | c.367-453C>T (n.367-453C>T) c.169-453C>T (n.169-453C>T) n.439-453C>T n.429-453C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47409642G>A | CA1030257683 | MSH2 | c.367-452G>A (n.367-452G>A) c.169-452G>A (n.169-452G>A) n.439-452G>A n.429-452G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47409642G= | CA2495830828 | MSH2 | c.367-452G= (n.367-452G=) c.169-452G= (n.169-452G=) n.439-452G= n.429-452G= | |
2 | g.47409644G>A | CA1030257684 | MSH2 | c.367-450G>A (n.367-450G>A) c.169-450G>A (n.169-450G>A) n.439-450G>A n.429-450G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47409644G= | CA2495830829 | MSH2 | c.367-450G= (n.367-450G=) c.169-450G= (n.169-450G=) n.439-450G= n.429-450G= | |
2 | g.47409647C= | CA2495830830 | MSH2 | c.367-447C= (n.367-447C=) c.169-447C= (n.169-447C=) n.439-447C= n.429-447C= | |
2 | g.47409647C>G | CA769450186 | MSH2 | c.367-447C>G (n.367-447C>G) c.169-447C>G (n.169-447C>G) n.439-447C>G n.429-447C>G | dbSNP |
2 | g.47409647C>T | CA2749801207 | MSH2 | c.367-447C>T (n.367-447C>T) c.169-447C>T (n.169-447C>T) n.439-447C>T n.429-447C>T | |
2 | g.47409648C= | CA2495830831 | MSH2 | c.367-446C= (n.367-446C=) c.169-446C= (n.169-446C=) n.439-446C= n.429-446C= | |
2 | g.47409648C>T | CA2495830832 | MSH2 | c.367-446C>T (n.367-446C>T) c.169-446C>T (n.169-446C>T) n.439-446C>T n.429-446C>T | dbSNP |
2 | g.47409649A= | CA2495830833 | MSH2 | c.367-445A= (n.367-445A=) c.169-445A= (n.169-445A=) n.439-445A= n.429-445A= | |
2 | g.47409649A>G | CA2495830834 | MSH2 | c.367-445A>G (n.367-445A>G) c.169-445A>G (n.169-445A>G) n.439-445A>G n.429-445A>G | dbSNP |
2 | g.47409650C= | CA2495830835 | MSH2 | c.367-444C= (n.367-444C=) c.169-444C= (n.169-444C=) n.439-444C= n.429-444C= | |
2 | g.47409650C>G | CA46676972 | MSH2 | c.367-444C>G (n.367-444C>G) c.169-444C>G (n.169-444C>G) n.439-444C>G n.429-444C>G | dbSNP |
2 | g.47409651A= | CA2495830837 | MSH2 | c.367-443A= (n.367-443A=) c.169-443A= (n.169-443A=) n.439-443A= n.429-443A= | |
2 | g.47409651A>G | CA532343015 | MSH2 | c.367-443A>G (n.367-443A>G) c.169-443A>G (n.169-443A>G) n.439-443A>G n.429-443A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47409651_47409652delinsAG | CA2495830836 | MSH2 | c.367-443_367-442delinsAG (n.367-443_367-442delinsAG) c.169-443_169-442delinsAG (n.169-443_169-442delinsAG) n.439-443_439-442delinsAG n.429-443_429-442delinsAG | |
2 | g.47409652del | CA46676981 | MSH2 | c.367-442del (n.367-442del) c.169-442del (n.169-442del) n.439-442del n.429-442del | dbSNP |
2 | g.47409653C= | CA2495830838 | MSH2 | c.367-441C= (n.367-441C=) c.169-441C= (n.169-441C=) n.439-441C= n.429-441C= | |
2 | g.47409653C>T | CA769450191 | MSH2 | c.367-441C>T (n.367-441C>T) c.169-441C>T (n.169-441C>T) n.439-441C>T n.429-441C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47409656T>C | CA769450196 | MSH2 | c.367-438T>C (n.367-438T>C) c.169-438T>C (n.169-438T>C) n.439-438T>C n.429-438T>C | dbSNP |
2 | g.47409656T= | CA2495830839 | MSH2 | c.367-438T= (n.367-438T=) c.169-438T= (n.169-438T=) n.439-438T= n.429-438T= | |
2 | g.47409658A= | CA2495830840 | MSH2 | c.367-436A= (n.367-436A=) c.169-436A= (n.169-436A=) n.439-436A= n.429-436A= | |
2 | g.47409658A>G | CA2495830841 | MSH2 | c.367-436A>G (n.367-436A>G) c.169-436A>G (n.169-436A>G) n.439-436A>G n.429-436A>G | dbSNP |
2 | g.47409658A>T | CA46676982 | MSH2 | c.367-436A>T (n.367-436A>T) c.169-436A>T (n.169-436A>T) n.439-436A>T n.429-436A>T | dbSNP gnomAD v2 |
2 | g.47409661C= | CA2495830842 | MSH2 | c.367-433C= (n.367-433C=) c.169-433C= (n.169-433C=) n.439-433C= n.429-433C= | |
2 | g.47409661C>T | CA2495830843 | MSH2 | c.367-433C>T (n.367-433C>T) c.169-433C>T (n.169-433C>T) n.439-433C>T n.429-433C>T | dbSNP |