Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.31184961C>A | CA494928632 | FUS | c.546C>A (p.Ser182=) c.543C>A (p.Ser181=) n.611C>A c.534C>A (p.Ser178=) n.651C>A c.-35C>A (n.-35C>A) c.540C>A (p.Ser180=) c.537C>A (p.Ser179=) | dbSNP |
16 | g.31184961C= | CA2216944646 | FUS | c.546C= (p.Ser182=) c.543C= (p.Ser181=) n.611C= c.534C= (p.Ser178=) n.651C= c.-35C= (n.-35C=) c.540C= (p.Ser180=) c.537C= (p.Ser179=) | |
16 | g.31184961C>G | CA494928633 | FUS | c.546C>G (p.Ser182=) c.543C>G (p.Ser181=) n.611C>G c.534C>G (p.Ser178=) n.651C>G c.-35C>G (n.-35C>G) c.540C>G (p.Ser180=) c.537C>G (p.Ser179=) | |
16 | g.31184961C>T | CA8023706 | FUS | c.546C>T (p.Ser182=) c.543C>T (p.Ser181=) n.611C>T c.534C>T (p.Ser178=) n.651C>T c.-35C>T (n.-35C>T) c.540C>T (p.Ser180=) c.537C>T (p.Ser179=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31184962T>A | CA395669593 | FUS | c.547T>A (p.Ser183Thr) c.544T>A (p.Ser182Thr) n.612T>A c.535T>A (p.Ser179Thr) n.652T>A c.-34T>A (n.-34T>A) c.541T>A (p.Ser181Thr) c.538T>A (p.Ser180Thr) | |
16 | g.31184962T>C | CA395669590 | FUS | c.547T>C (p.Ser183Pro) c.544T>C (p.Ser182Pro) n.612T>C c.535T>C (p.Ser179Pro) n.652T>C c.-34T>C (n.-34T>C) c.541T>C (p.Ser181Pro) c.538T>C (p.Ser180Pro) | |
16 | g.31184962T>G | CA395669591 | FUS | c.547T>G (p.Ser183Ala) c.544T>G (p.Ser182Ala) n.612T>G c.535T>G (p.Ser179Ala) n.652T>G c.-34T>G (n.-34T>G) c.541T>G (p.Ser181Ala) c.538T>G (p.Ser180Ala) | |
16 | g.31184963C>A | CA395669595 | FUS | c.548C>A (p.Ser183Tyr) c.545C>A (p.Ser182Tyr) n.613C>A c.536C>A (p.Ser179Tyr) n.653C>A c.-33C>A (n.-33C>A) c.542C>A (p.Ser181Tyr) c.539C>A (p.Ser180Tyr) | |
16 | g.31184963C>G | CA395669597 | FUS | c.548C>G (p.Ser183Cys) c.545C>G (p.Ser182Cys) n.613C>G c.536C>G (p.Ser179Cys) n.653C>G c.-33C>G (n.-33C>G) c.542C>G (p.Ser181Cys) c.539C>G (p.Ser180Cys) | |
16 | g.31184963C>T | CA395669598 | FUS | c.548C>T (p.Ser183Phe) c.545C>T (p.Ser182Phe) n.613C>T c.536C>T (p.Ser179Phe) n.653C>T c.-33C>T (n.-33C>T) c.542C>T (p.Ser181Phe) c.539C>T (p.Ser180Phe) | |
16 | g.31184964C>A | CA494928635 | FUS | c.549C>A (p.Ser183=) c.546C>A (p.Ser182=) n.614C>A c.537C>A (p.Ser179=) n.654C>A c.-32C>A (n.-32C>A) c.543C>A (p.Ser181=) c.540C>A (p.Ser180=) | |
16 | g.31184964C>G | CA494928636 | FUS | c.549C>G (p.Ser183=) c.546C>G (p.Ser182=) n.614C>G c.537C>G (p.Ser179=) n.654C>G c.-32C>G (n.-32C>G) c.543C>G (p.Ser181=) c.540C>G (p.Ser180=) | |
16 | g.31184964C>T | CA494928637 | FUS | c.549C>T (p.Ser183=) c.546C>T (p.Ser182=) n.614C>T c.537C>T (p.Ser179=) n.654C>T c.-32C>T (n.-32C>T) c.543C>T (p.Ser181=) c.540C>T (p.Ser180=) | gnomAD v4 |
16 | g.31184965A= | CA2216944650 | FUS | c.550A= (p.Met184=) c.547A= (p.Met183=) n.615A= c.538A= (p.Met180=) n.655A= c.-31A= (n.-31A=) c.544A= (p.Met182=) c.541A= (p.Met181=) | |
16 | g.31184965A>C | CA8023707 | FUS | c.550A>C (p.Met184Leu) c.547A>C (p.Met183Leu) n.615A>C c.538A>C (p.Met180Leu) n.655A>C c.-31A>C (n.-31A>C) c.544A>C (p.Met182Leu) c.541A>C (p.Met181Leu) | dbSNP ExAC |
16 | g.31184965A>G | CA395669600 | FUS | c.550A>G (p.Met184Val) c.547A>G (p.Met183Val) n.615A>G c.538A>G (p.Met180Val) n.655A>G c.-31A>G (n.-31A>G) c.544A>G (p.Met182Val) c.541A>G (p.Met181Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.31184965A>T | CA395669599 | FUS | c.550A>T (p.Met184Leu) c.547A>T (p.Met183Leu) n.615A>T c.538A>T (p.Met180Leu) n.655A>T c.-31A>T (n.-31A>T) c.544A>T (p.Met182Leu) c.541A>T (p.Met181Leu) | |
16 | g.31184966T>A | CA395669601 | FUS | c.551T>A (p.Met184Lys) c.548T>A (p.Met183Lys) n.616T>A c.539T>A (p.Met180Lys) n.656T>A c.-30T>A (n.-30T>A) c.545T>A (p.Met182Lys) c.542T>A (p.Met181Lys) | |
16 | g.31184966T>C | CA395669603 | FUS | c.551T>C (p.Met184Thr) c.548T>C (p.Met183Thr) n.616T>C c.539T>C (p.Met180Thr) n.656T>C c.-30T>C (n.-30T>C) c.545T>C (p.Met182Thr) c.542T>C (p.Met181Thr) | |
16 | g.31184966T>G | CA395669604 | FUS | c.551T>G (p.Met184Arg) c.548T>G (p.Met183Arg) n.616T>G c.539T>G (p.Met180Arg) n.656T>G c.-30T>G (n.-30T>G) c.545T>G (p.Met182Arg) c.542T>G (p.Met181Arg) | dbSNP |
16 | g.31184966T= | CA2216944655 | FUS | c.551T= (p.Met184=) c.548T= (p.Met183=) n.616T= c.539T= (p.Met180=) n.656T= c.-30T= (n.-30T=) c.545T= (p.Met182=) c.542T= (p.Met181=) | |
16 | g.31184967G>A | CA395669605 | FUS | c.552G>A (p.Met184Ile) c.549G>A (p.Met183Ile) n.617G>A c.540G>A (p.Met180Ile) n.657G>A c.-29G>A (n.-29G>A) c.546G>A (p.Met182Ile) c.543G>A (p.Met181Ile) | gnomAD v4 |
16 | g.31184967G>C | CA395669606 | FUS | c.552G>C (p.Met184Ile) c.549G>C (p.Met183Ile) n.617G>C c.540G>C (p.Met180Ile) n.657G>C c.-29G>C (n.-29G>C) c.546G>C (p.Met182Ile) c.543G>C (p.Met181Ile) | |
16 | g.31184967G>T | CA395669607 | FUS | c.552G>T (p.Met184Ile) c.549G>T (p.Met183Ile) n.617G>T c.540G>T (p.Met180Ile) n.657G>T c.-29G>T (n.-29G>T) c.546G>T (p.Met182Ile) c.543G>T (p.Met181Ile) | |
16 | g.31184968A>C | CA395669609 | FUS | c.553A>C (p.Ser185Arg) c.550A>C (p.Ser184Arg) n.618A>C c.541A>C (p.Ser181Arg) n.658A>C c.-28A>C (n.-28A>C) c.547A>C (p.Ser183Arg) c.544A>C (p.Ser182Arg) | |
16 | g.31184968A>G | CA395669612 | FUS | c.553A>G (p.Ser185Gly) c.550A>G (p.Ser184Gly) n.618A>G c.541A>G (p.Ser181Gly) n.658A>G c.-28A>G (n.-28A>G) c.547A>G (p.Ser183Gly) c.544A>G (p.Ser182Gly) | |
16 | g.31184968A>T | CA395669610 | FUS | c.553A>T (p.Ser185Cys) c.550A>T (p.Ser184Cys) n.618A>T c.541A>T (p.Ser181Cys) n.658A>T c.-28A>T (n.-28A>T) c.547A>T (p.Ser183Cys) c.544A>T (p.Ser182Cys) | |
16 | g.31184969G>A | CA395669613 | FUS | c.554G>A (p.Ser185Asn) c.551G>A (p.Ser184Asn) n.619G>A c.542G>A (p.Ser181Asn) n.659G>A c.-27G>A (n.-27G>A) c.548G>A (p.Ser183Asn) c.545G>A (p.Ser182Asn) | |
16 | g.31184969G>C | CA395669614 | FUS | c.554G>C (p.Ser185Thr) c.551G>C (p.Ser184Thr) n.619G>C c.542G>C (p.Ser181Thr) n.659G>C c.-27G>C (n.-27G>C) c.548G>C (p.Ser183Thr) c.545G>C (p.Ser182Thr) | |
16 | g.31184969G>T | CA395669615 | FUS | c.554G>T (p.Ser185Ile) c.551G>T (p.Ser184Ile) n.619G>T c.542G>T (p.Ser181Ile) n.659G>T c.-27G>T (n.-27G>T) c.548G>T (p.Ser183Ile) c.545G>T (p.Ser182Ile) | |
16 | g.31184970T>A | CA395669616 | FUS | c.555T>A (p.Ser185Arg) c.552T>A (p.Ser184Arg) n.620T>A c.543T>A (p.Ser181Arg) n.660T>A c.-26T>A (n.-26T>A) c.549T>A (p.Ser183Arg) c.546T>A (p.Ser182Arg) | |
16 | g.31184970T>C | CA494928641 | FUS | c.555T>C (p.Ser185=) c.552T>C (p.Ser184=) n.620T>C c.543T>C (p.Ser181=) n.660T>C c.-26T>C (n.-26T>C) c.549T>C (p.Ser183=) c.546T>C (p.Ser182=) | |
16 | g.31184970T>G | CA8023708 | FUS | c.555T>G (p.Ser185Arg) c.552T>G (p.Ser184Arg) n.620T>G c.543T>G (p.Ser181Arg) n.660T>G c.-26T>G (n.-26T>G) c.549T>G (p.Ser183Arg) c.546T>G (p.Ser182Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31184970T= | CA2216944657 | FUS | c.555T= (p.Ser185=) c.552T= (p.Ser184=) n.620T= c.543T= (p.Ser181=) n.660T= c.-26T= (n.-26T=) c.549T= (p.Ser183=) c.546T= (p.Ser182=) | |
16 | g.31184971A>C | CA395669617 | FUS | c.556A>C (p.Ser186Arg) c.553A>C (p.Ser185Arg) n.621A>C c.544A>C (p.Ser182Arg) n.661A>C c.-25A>C (n.-25A>C) c.550A>C (p.Ser184Arg) c.547A>C (p.Ser183Arg) | |
16 | g.31184971A>G | CA395669618 | FUS | c.556A>G (p.Ser186Gly) c.553A>G (p.Ser185Gly) n.621A>G c.544A>G (p.Ser182Gly) n.661A>G c.-25A>G (n.-25A>G) c.550A>G (p.Ser184Gly) c.547A>G (p.Ser183Gly) | |
16 | g.31184971A>T | CA395669619 | FUS | c.556A>T (p.Ser186Cys) c.553A>T (p.Ser185Cys) n.621A>T c.544A>T (p.Ser182Cys) n.661A>T c.-25A>T (n.-25A>T) c.550A>T (p.Ser184Cys) c.547A>T (p.Ser183Cys) | |
16 | g.31184972G>A | CA395669620 | FUS | c.557G>A (p.Ser186Asn) c.554G>A (p.Ser185Asn) n.622G>A c.545G>A (p.Ser182Asn) n.662G>A c.-24G>A (n.-24G>A) c.551G>A (p.Ser184Asn) c.548G>A (p.Ser183Asn) | gnomAD v4 |
16 | g.31184972G>C | CA395669622 | FUS | c.557G>C (p.Ser186Thr) c.554G>C (p.Ser185Thr) n.622G>C c.545G>C (p.Ser182Thr) n.662G>C c.-24G>C (n.-24G>C) c.551G>C (p.Ser184Thr) c.548G>C (p.Ser183Thr) | |
16 | g.31184972G= | CA2216944660 | FUS | c.557G= (p.Ser186=) c.554G= (p.Ser185=) n.622G= c.545G= (p.Ser182=) n.662G= c.-24G= (n.-24G=) c.551G= (p.Ser184=) c.548G= (p.Ser183=) | |
16 | g.31184972G>T | CA8023709 | FUS | c.557G>T (p.Ser186Ile) c.554G>T (p.Ser185Ile) n.622G>T c.545G>T (p.Ser182Ile) n.662G>T c.-24G>T (n.-24G>T) c.551G>T (p.Ser184Ile) c.548G>T (p.Ser183Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31184973T>A | CA395669626 | FUS | c.558T>A (p.Ser186Arg) c.555T>A (p.Ser185Arg) n.623T>A c.546T>A (p.Ser182Arg) n.663T>A c.-23T>A (n.-23T>A) c.552T>A (p.Ser184Arg) c.549T>A (p.Ser183Arg) | |
16 | g.31184973T>C | CA494928645 | FUS | c.558T>C (p.Ser186=) c.555T>C (p.Ser185=) n.623T>C c.546T>C (p.Ser182=) n.663T>C c.-23T>C (n.-23T>C) c.552T>C (p.Ser184=) c.549T>C (p.Ser183=) | |
16 | g.31184973T>G | CA395669624 | FUS | c.558T>G (p.Ser186Arg) c.555T>G (p.Ser185Arg) n.623T>G c.546T>G (p.Ser182Arg) n.663T>G c.-23T>G (n.-23T>G) c.552T>G (p.Ser184Arg) c.549T>G (p.Ser183Arg) | |
16 | g.31184974G>A | CA8023710 | FUS | c.559G>A (p.Gly187Ser) c.556G>A (p.Gly186Ser) n.624G>A c.547G>A (p.Gly183Ser) n.664G>A c.-22G>A (n.-22G>A) c.553G>A (p.Gly185Ser) c.550G>A (p.Gly184Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31184974G>C | CA395669628 | FUS | c.559G>C (p.Gly187Arg) c.556G>C (p.Gly186Arg) n.624G>C c.547G>C (p.Gly183Arg) n.664G>C c.-22G>C (n.-22G>C) c.553G>C (p.Gly185Arg) c.550G>C (p.Gly184Arg) | |
16 | g.31184974G= | CA2216944664 | FUS | c.559G= (p.Gly187=) c.556G= (p.Gly186=) n.624G= c.547G= (p.Gly183=) n.664G= c.-22G= (n.-22G=) c.553G= (p.Gly185=) c.550G= (p.Gly184=) | |
16 | g.31184974G>T | CA395669630 | FUS | c.559G>T (p.Gly187Cys) c.556G>T (p.Gly186Cys) n.624G>T c.547G>T (p.Gly183Cys) n.664G>T c.-22G>T (n.-22G>T) c.553G>T (p.Gly185Cys) c.550G>T (p.Gly184Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31184974_31184983delinsGGTGGTGGCA | CA2216944666 | FUS | c.559_568delinsGGTGGTGGCA (p.Gly187=) c.556_565delinsGGTGGTGGCA (p.Gly186=) n.624_633delinsGGTGGTGGCA c.547_556delinsGGTGGTGGCA (p.Gly183=) n.664_673delinsGGTGGTGGCA c.-22_-13delinsGGTGGTGGCA (n.-22_-13delinsGGTGGTGGCA) c.553_562delinsGGTGGTGGCA (p.Gly185=) c.550_559delinsGGTGGTGGCA (p.Gly184=) | |
16 | g.31184975G>A | CA395669633 | FUS | c.560G>A (p.Gly187Asp) c.557G>A (p.Gly186Asp) n.625G>A c.548G>A (p.Gly183Asp) n.665G>A c.-21G>A (n.-21G>A) c.554G>A (p.Gly185Asp) c.551G>A (p.Gly184Asp) | |
16 | g.31184975G>C | CA395669634 | FUS | c.560G>C (p.Gly187Ala) c.557G>C (p.Gly186Ala) n.625G>C c.548G>C (p.Gly183Ala) n.665G>C c.-21G>C (n.-21G>C) c.554G>C (p.Gly185Ala) c.551G>C (p.Gly184Ala) | |
16 | g.31184975G>T | CA395669635 | FUS | c.560G>T (p.Gly187Val) c.557G>T (p.Gly186Val) n.625G>T c.548G>T (p.Gly183Val) n.665G>T c.-21G>T (n.-21G>T) c.554G>T (p.Gly185Val) c.551G>T (p.Gly184Val) | |
16 | g.31184983_31184991del | CA8023711 | FUS | c.568_576del (p.Ser190_Gly192del) c.565_573del (p.Ser189_Gly191del) n.633_641del c.556_564del (p.Ser186_Gly188del) n.673_681del c.-13_-5del (n.-13_-5del) c.562_570del (p.Ser188_Gly190del) c.559_567del (p.Ser187_Gly189del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31184976T>A | CA494928651 | FUS | c.561T>A (p.Gly187=) c.558T>A (p.Gly186=) n.626T>A c.549T>A (p.Gly183=) n.666T>A c.-20T>A (n.-20T>A) c.555T>A (p.Gly185=) c.552T>A (p.Gly184=) | |
16 | g.31184976T>C | CA494928650 | FUS | c.561T>C (p.Gly187=) c.558T>C (p.Gly186=) n.626T>C c.549T>C (p.Gly183=) n.666T>C c.-20T>C (n.-20T>C) c.555T>C (p.Gly185=) c.552T>C (p.Gly184=) | |
16 | g.31184976T>G | CA494928649 | FUS | c.561T>G (p.Gly187=) c.558T>G (p.Gly186=) n.626T>G c.549T>G (p.Gly183=) n.666T>G c.-20T>G (n.-20T>G) c.555T>G (p.Gly185=) c.552T>G (p.Gly184=) | |
16 | g.31184977G>A | CA395669638 | FUS | c.562G>A (p.Gly188Ser) c.559G>A (p.Gly187Ser) n.627G>A c.550G>A (p.Gly184Ser) n.667G>A c.-19G>A (n.-19G>A) c.556G>A (p.Gly186Ser) c.553G>A (p.Gly185Ser) | gnomAD v4 |
16 | g.31184977G>C | CA395669640 | FUS | c.562G>C (p.Gly188Arg) c.559G>C (p.Gly187Arg) n.627G>C c.550G>C (p.Gly184Arg) n.667G>C c.-19G>C (n.-19G>C) c.556G>C (p.Gly186Arg) c.553G>C (p.Gly185Arg) | |
16 | g.31184977G>T | CA395669641 | FUS | c.562G>T (p.Gly188Cys) c.559G>T (p.Gly187Cys) n.627G>T c.550G>T (p.Gly184Cys) n.667G>T c.-19G>T (n.-19G>T) c.556G>T (p.Gly186Cys) c.553G>T (p.Gly185Cys) | |
16 | g.31184978G>A | CA395669642 | FUS | c.563G>A (p.Gly188Asp) c.560G>A (p.Gly187Asp) n.628G>A c.551G>A (p.Gly184Asp) n.668G>A c.-18G>A (n.-18G>A) c.557G>A (p.Gly186Asp) c.554G>A (p.Gly185Asp) | |
16 | g.31184978G>C | CA395669643 | FUS | c.563G>C (p.Gly188Ala) c.560G>C (p.Gly187Ala) n.628G>C c.551G>C (p.Gly184Ala) n.668G>C c.-18G>C (n.-18G>C) c.557G>C (p.Gly186Ala) c.554G>C (p.Gly185Ala) | |
16 | g.31184978G>T | CA395669645 | FUS | c.563G>T (p.Gly188Val) c.560G>T (p.Gly187Val) n.628G>T c.551G>T (p.Gly184Val) n.668G>T c.-18G>T (n.-18G>T) c.557G>T (p.Gly186Val) c.554G>T (p.Gly185Val) | |
16 | g.31184979T>A | CA494928655 | FUS | c.564T>A (p.Gly188=) c.561T>A (p.Gly187=) n.629T>A c.552T>A (p.Gly184=) n.669T>A c.-17T>A (n.-17T>A) c.558T>A (p.Gly186=) c.555T>A (p.Gly185=) | |
16 | g.31184979T>C | CA494928653 | FUS | c.564T>C (p.Gly188=) c.561T>C (p.Gly187=) n.629T>C c.552T>C (p.Gly184=) n.669T>C c.-17T>C (n.-17T>C) c.558T>C (p.Gly186=) c.555T>C (p.Gly185=) | gnomAD v4 |
16 | g.31184979T>G | CA494928654 | FUS | c.564T>G (p.Gly188=) c.561T>G (p.Gly187=) n.629T>G c.552T>G (p.Gly184=) n.669T>G c.-17T>G (n.-17T>G) c.558T>G (p.Gly186=) c.555T>G (p.Gly185=) | |
16 | g.31184980G>A | CA395669650 | FUS | c.565G>A (p.Gly189Ser) c.562G>A (p.Gly188Ser) n.630G>A c.553G>A (p.Gly185Ser) n.670G>A c.-16G>A (n.-16G>A) c.559G>A (p.Gly187Ser) c.556G>A (p.Gly186Ser) | |
16 | g.31184980G>C | CA395669649 | FUS | c.565G>C (p.Gly189Arg) c.562G>C (p.Gly188Arg) n.630G>C c.553G>C (p.Gly185Arg) n.670G>C c.-16G>C (n.-16G>C) c.559G>C (p.Gly187Arg) c.556G>C (p.Gly186Arg) | |
16 | g.31184980G>T | CA395669647 | FUS | c.565G>T (p.Gly189Cys) c.562G>T (p.Gly188Cys) n.630G>T c.553G>T (p.Gly185Cys) n.670G>T c.-16G>T (n.-16G>T) c.559G>T (p.Gly187Cys) c.556G>T (p.Gly186Cys) | |
16 | g.31184981G>A | CA395669652 | FUS | c.566G>A (p.Gly189Asp) c.563G>A (p.Gly188Asp) n.631G>A c.554G>A (p.Gly185Asp) n.671G>A c.-15G>A (n.-15G>A) c.560G>A (p.Gly187Asp) c.557G>A (p.Gly186Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.31184981G>C | CA395669654 | FUS | c.566G>C (p.Gly189Ala) c.563G>C (p.Gly188Ala) n.631G>C c.554G>C (p.Gly185Ala) n.671G>C c.-15G>C (n.-15G>C) c.560G>C (p.Gly187Ala) c.557G>C (p.Gly186Ala) | |
16 | g.31184981G= | CA2216944669 | FUS | c.566G= (p.Gly189=) c.563G= (p.Gly188=) n.631G= c.554G= (p.Gly185=) n.671G= c.-15G= (n.-15G=) c.560G= (p.Gly187=) c.557G= (p.Gly186=) | |
16 | g.31184981G>T | CA395669655 | FUS | c.566G>T (p.Gly189Val) c.563G>T (p.Gly188Val) n.631G>T c.554G>T (p.Gly185Val) n.671G>T c.-15G>T (n.-15G>T) c.560G>T (p.Gly187Val) c.557G>T (p.Gly186Val) | |
16 | g.31184982C>A | CA494928658 | FUS | c.567C>A (p.Gly189=) c.564C>A (p.Gly188=) n.632C>A c.555C>A (p.Gly185=) n.672C>A c.-14C>A (n.-14C>A) c.561C>A (p.Gly187=) c.558C>A (p.Gly186=) | |
16 | g.31184982C= | CA2216944671 | FUS | c.567C= (p.Gly189=) c.564C= (p.Gly188=) n.632C= c.555C= (p.Gly185=) n.672C= c.-14C= (n.-14C=) c.561C= (p.Gly187=) c.558C= (p.Gly186=) | |
16 | g.31184982C>G | CA494928657 | FUS | c.567C>G (p.Gly189=) c.564C>G (p.Gly188=) n.632C>G c.555C>G (p.Gly185=) n.672C>G c.-14C>G (n.-14C>G) c.561C>G (p.Gly187=) c.558C>G (p.Gly186=) | |
16 | g.31184982C>T | CA494928656 | FUS | c.567C>T (p.Gly189=) c.564C>T (p.Gly188=) n.632C>T c.555C>T (p.Gly185=) n.672C>T c.-14C>T (n.-14C>T) c.561C>T (p.Gly187=) c.558C>T (p.Gly186=) | dbSNP |
16 | g.31184982_31184988delinsCAGTGGT | CA2216944673 | FUS | c.567_573delinsCAGTGGT (p.Gly189=) c.564_570delinsCAGTGGT (p.Gly188=) n.632_638delinsCAGTGGT c.555_561delinsCAGTGGT (p.Gly185=) n.672_678delinsCAGTGGT c.-14_-8delinsCAGTGGT (n.-14_-8delinsCAGTGGT) c.561_567delinsCAGTGGT (p.Gly187=) c.558_564delinsCAGTGGT (p.Gly186=) | |
16 | g.31184983A= | CA2216944676 | FUS | c.568A= (p.Ser190=) c.565A= (p.Ser189=) n.633A= c.556A= (p.Ser186=) n.673A= c.-13A= (n.-13A=) c.562A= (p.Ser188=) c.559A= (p.Ser187=) | |
16 | g.31184983A>C | CA395669657 | FUS | c.568A>C (p.Ser190Arg) c.565A>C (p.Ser189Arg) n.633A>C c.556A>C (p.Ser186Arg) n.673A>C c.-13A>C (n.-13A>C) c.562A>C (p.Ser188Arg) c.559A>C (p.Ser187Arg) | |
16 | g.31184983A>G | CA8023712 | FUS | c.568A>G (p.Ser190Gly) c.565A>G (p.Ser189Gly) n.633A>G c.556A>G (p.Ser186Gly) n.673A>G c.-13A>G (n.-13A>G) c.562A>G (p.Ser188Gly) c.559A>G (p.Ser187Gly) | dbSNP ExAC gnomAD v2 |
16 | g.31184983A>T | CA395669658 | FUS | c.568A>T (p.Ser190Cys) c.565A>T (p.Ser189Cys) n.633A>T c.556A>T (p.Ser186Cys) n.673A>T c.-13A>T (n.-13A>T) c.562A>T (p.Ser188Cys) c.559A>T (p.Ser187Cys) | |
16 | g.31184983_31184988del | CA2216944675 | FUS | c.568_573del (p.Ser190_Gly191del) c.565_570del (p.Ser189_Gly190del) n.633_638del c.556_561del (p.Ser186_Gly187del) n.673_678del c.-13_-8del (n.-13_-8del) c.562_567del (p.Ser188_Gly189del) c.559_564del (p.Ser187_Gly188del) | dbSNP |
16 | g.31184984G>A | CA395669659 | FUS | c.569G>A (p.Ser190Asn) c.566G>A (p.Ser189Asn) n.634G>A c.557G>A (p.Ser186Asn) n.674G>A c.-12G>A (n.-12G>A) c.563G>A (p.Ser188Asn) c.560G>A (p.Ser187Asn) | |
16 | g.31184984G>C | CA395669661 | FUS | c.569G>C (p.Ser190Thr) c.566G>C (p.Ser189Thr) n.634G>C c.557G>C (p.Ser186Thr) n.674G>C c.-12G>C (n.-12G>C) c.563G>C (p.Ser188Thr) c.560G>C (p.Ser187Thr) | |
16 | g.31184984G>T | CA395669662 | FUS | c.569G>T (p.Ser190Ile) c.566G>T (p.Ser189Ile) n.634G>T c.557G>T (p.Ser186Ile) n.674G>T c.-12G>T (n.-12G>T) c.563G>T (p.Ser188Ile) c.560G>T (p.Ser187Ile) | |
16 | g.31184985T>A | CA395669664 | FUS | c.570T>A (p.Ser190Arg) c.567T>A (p.Ser189Arg) n.635T>A c.558T>A (p.Ser186Arg) n.675T>A c.-11T>A (n.-11T>A) c.564T>A (p.Ser188Arg) c.561T>A (p.Ser187Arg) | |
16 | g.31184985T>C | CA494928660 | FUS | c.570T>C (p.Ser190=) c.567T>C (p.Ser189=) n.635T>C c.558T>C (p.Ser186=) n.675T>C c.-11T>C (n.-11T>C) c.564T>C (p.Ser188=) c.561T>C (p.Ser187=) | |
16 | g.31184985T>G | CA395669665 | FUS | c.570T>G (p.Ser190Arg) c.567T>G (p.Ser189Arg) n.635T>G c.558T>G (p.Ser186Arg) n.675T>G c.-11T>G (n.-11T>G) c.564T>G (p.Ser188Arg) c.561T>G (p.Ser187Arg) | |
16 | g.31184985T= | CA2216944680 | FUS | c.570T= (p.Ser190=) c.567T= (p.Ser189=) n.635T= c.558T= (p.Ser186=) n.675T= c.-11T= (n.-11T=) c.564T= (p.Ser188=) c.561T= (p.Ser187=) | |
16 | g.31184986G>A | CA280594678 | FUS | c.571G>A (p.Gly191Ser) c.568G>A (p.Gly190Ser) n.636G>A c.559G>A (p.Gly187Ser) n.676G>A c.-10G>A (n.-10G>A) c.565G>A (p.Gly189Ser) c.562G>A (p.Gly188Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.31184986G>C | CA395669667 | FUS | c.571G>C (p.Gly191Arg) c.568G>C (p.Gly190Arg) n.636G>C c.559G>C (p.Gly187Arg) n.676G>C c.-10G>C (n.-10G>C) c.565G>C (p.Gly189Arg) c.562G>C (p.Gly188Arg) | |
16 | g.31184986G= | CA2216944686 | FUS | c.571G= (p.Gly191=) c.568G= (p.Gly190=) n.636G= c.559G= (p.Gly187=) n.676G= c.-10G= (n.-10G=) c.565G= (p.Gly189=) c.562G= (p.Gly188=) | |
16 | g.31184986G>T | CA395669669 | FUS | c.571G>T (p.Gly191Cys) c.568G>T (p.Gly190Cys) n.636G>T c.559G>T (p.Gly187Cys) n.676G>T c.-10G>T (n.-10G>T) c.565G>T (p.Gly189Cys) c.562G>T (p.Gly188Cys) | |
16 | g.31184987dup | CA919689811 | FUS | c.572dup (p.Gly192TrpfsTer?) c.569dup (p.Gly191TrpfsTer?) n.637dup c.560dup (p.Gly188TrpfsTer?) n.677dup c.-9dup (n.-9dup) c.566dup (p.Gly190TrpfsTer?) c.563dup (p.Gly189TrpfsTer?) | dbSNP |
16 | g.31184987G>A | CA395669674 | FUS | c.572G>A (p.Gly191Asp) c.569G>A (p.Gly190Asp) n.637G>A c.560G>A (p.Gly187Asp) n.677G>A c.-9G>A (n.-9G>A) c.566G>A (p.Gly189Asp) c.563G>A (p.Gly188Asp) | |
16 | g.31184987G>C | CA395669672 | FUS | c.572G>C (p.Gly191Ala) c.569G>C (p.Gly190Ala) n.637G>C c.560G>C (p.Gly187Ala) n.677G>C c.-9G>C (n.-9G>C) c.566G>C (p.Gly189Ala) c.563G>C (p.Gly188Ala) | |
16 | g.31184987G>T | CA395669671 | FUS | c.572G>T (p.Gly191Val) c.569G>T (p.Gly190Val) n.637G>T c.560G>T (p.Gly187Val) n.677G>T c.-9G>T (n.-9G>T) c.566G>T (p.Gly189Val) c.563G>T (p.Gly188Val) | |
16 | g.31184988T>A | CA494928664 | FUS | c.573T>A (p.Gly191=) c.570T>A (p.Gly190=) n.638T>A c.561T>A (p.Gly187=) n.678T>A c.-8T>A (n.-8T>A) c.567T>A (p.Gly189=) c.564T>A (p.Gly188=) | |
16 | g.31184988T>C | CA494928665 | FUS | c.573T>C (p.Gly191=) c.570T>C (p.Gly190=) n.638T>C c.561T>C (p.Gly187=) n.678T>C c.-8T>C (n.-8T>C) c.567T>C (p.Gly189=) c.564T>C (p.Gly188=) | |
16 | g.31184988T>G | CA494928666 | FUS | c.573T>G (p.Gly191=) c.570T>G (p.Gly190=) n.638T>G c.561T>G (p.Gly187=) n.678T>G c.-8T>G (n.-8T>G) c.567T>G (p.Gly189=) c.564T>G (p.Gly188=) | dbSNP |
16 | g.31184988T= | CA2216944691 | FUS | c.573T= (p.Gly191=) c.570T= (p.Gly190=) n.638T= c.561T= (p.Gly187=) n.678T= c.-8T= (n.-8T=) c.567T= (p.Gly189=) c.564T= (p.Gly188=) | |
16 | g.31184989G>A | CA395669676 | FUS | c.574G>A (p.Gly192Ser) c.571G>A (p.Gly191Ser) n.639G>A c.562G>A (p.Gly188Ser) n.679G>A c.-7G>A (n.-7G>A) c.568G>A (p.Gly190Ser) c.565G>A (p.Gly189Ser) | |
16 | g.31184989G>C | CA395669679 | FUS | c.574G>C (p.Gly192Arg) c.571G>C (p.Gly191Arg) n.639G>C c.562G>C (p.Gly188Arg) n.679G>C c.-7G>C (n.-7G>C) c.568G>C (p.Gly190Arg) c.565G>C (p.Gly189Arg) | |
16 | g.31184989G>T | CA395669678 | FUS | c.574G>T (p.Gly192Cys) c.571G>T (p.Gly191Cys) n.639G>T c.562G>T (p.Gly188Cys) n.679G>T c.-7G>T (n.-7G>T) c.568G>T (p.Gly190Cys) c.565G>T (p.Gly189Cys) | |
16 | g.31184990G>A | CA395669681 | FUS | c.575G>A (p.Gly192Asp) c.572G>A (p.Gly191Asp) n.640G>A c.563G>A (p.Gly188Asp) n.680G>A c.-6G>A (n.-6G>A) c.569G>A (p.Gly190Asp) c.566G>A (p.Gly189Asp) | gnomAD v4 |
16 | g.31184990G>C | CA395669683 | FUS | c.575G>C (p.Gly192Ala) c.572G>C (p.Gly191Ala) n.640G>C c.563G>C (p.Gly188Ala) n.680G>C c.-6G>C (n.-6G>C) c.569G>C (p.Gly190Ala) c.566G>C (p.Gly189Ala) | |
16 | g.31184990G>T | CA395669685 | FUS | c.575G>T (p.Gly192Val) c.572G>T (p.Gly191Val) n.640G>T c.563G>T (p.Gly188Val) n.680G>T c.-6G>T (n.-6G>T) c.569G>T (p.Gly190Val) c.566G>T (p.Gly189Val) | COSMIC COSMIC |
16 | g.31184991C>A | CA494928671 | FUS | c.576C>A (p.Gly192=) c.573C>A (p.Gly191=) n.641C>A c.564C>A (p.Gly188=) n.681C>A c.-5C>A (n.-5C>A) c.570C>A (p.Gly190=) c.567C>A (p.Gly189=) | |
16 | g.31184991C= | CA2216944694 | FUS | c.576C= (p.Gly192=) c.573C= (p.Gly191=) n.641C= c.564C= (p.Gly188=) n.681C= c.-5C= (n.-5C=) c.570C= (p.Gly190=) c.567C= (p.Gly189=) | |
16 | g.31184991C>G | CA494928672 | FUS | c.576C>G (p.Gly192=) c.573C>G (p.Gly191=) n.641C>G c.564C>G (p.Gly188=) n.681C>G c.-5C>G (n.-5C>G) c.570C>G (p.Gly190=) c.567C>G (p.Gly189=) | dbSNP |
16 | g.31184991C>T | CA8023713 | FUS | c.576C>T (p.Gly192=) c.573C>T (p.Gly191=) n.641C>T c.564C>T (p.Gly188=) n.681C>T c.-5C>T (n.-5C>T) c.570C>T (p.Gly190=) c.567C>T (p.Gly189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31184992G>A | CA395669688 | FUS | c.577G>A (p.Gly193Ser) c.574G>A (p.Gly192Ser) n.642G>A c.565G>A (p.Gly189Ser) n.682G>A c.-4G>A (n.-4G>A) c.571G>A (p.Gly191Ser) c.568G>A (p.Gly190Ser) | dbSNP gnomAD v4 |
16 | g.31184992G>C | CA395669690 | FUS | c.577G>C (p.Gly193Arg) c.574G>C (p.Gly192Arg) n.642G>C c.565G>C (p.Gly189Arg) n.682G>C c.-4G>C (n.-4G>C) c.571G>C (p.Gly191Arg) c.568G>C (p.Gly190Arg) | |
16 | g.31184992G= | CA2216944698 | FUS | c.577G= (p.Gly193=) c.574G= (p.Gly192=) n.642G= c.565G= (p.Gly189=) n.682G= c.-4G= (n.-4G=) c.571G= (p.Gly191=) c.568G= (p.Gly190=) | |
16 | g.31184992G>T | CA395669691 | FUS | c.577G>T (p.Gly193Cys) c.574G>T (p.Gly192Cys) n.642G>T c.565G>T (p.Gly189Cys) n.682G>T c.-4G>T (n.-4G>T) c.571G>T (p.Gly191Cys) c.568G>T (p.Gly190Cys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31184993G>A | CA395669692 | FUS | c.578G>A (p.Gly193Asp) c.575G>A (p.Gly192Asp) n.643G>A c.566G>A (p.Gly189Asp) n.683G>A c.-3G>A (n.-3G>A) c.572G>A (p.Gly191Asp) c.569G>A (p.Gly190Asp) | |
16 | g.31184993G>C | CA395669693 | FUS | c.578G>C (p.Gly193Ala) c.575G>C (p.Gly192Ala) n.643G>C c.566G>C (p.Gly189Ala) n.683G>C c.-3G>C (n.-3G>C) c.572G>C (p.Gly191Ala) c.569G>C (p.Gly190Ala) | |
16 | g.31184993G>T | CA395669694 | FUS | c.578G>T (p.Gly193Val) c.575G>T (p.Gly192Val) n.643G>T c.566G>T (p.Gly189Val) n.683G>T c.-3G>T (n.-3G>T) c.572G>T (p.Gly191Val) c.569G>T (p.Gly190Val) | |
16 | g.31184993_31185036del | CA2695223295 | FUS | c.578_621del (p.Gly193ValfsTer?) c.575_618del (p.Gly192ValfsTer?) n.643_686del c.566_609del (p.Gly189ValfsTer?) n.683_726del c.-3_41del c.572_615del (p.Gly191ValfsTer?) c.569_612del (p.Gly190ValfsTer?) | |
16 | g.31184994T>A | CA494928679 | FUS | c.579T>A (p.Gly193=) c.576T>A (p.Gly192=) n.644T>A c.567T>A (p.Gly189=) n.684T>A c.-2T>A (n.-2T>A) c.573T>A (p.Gly191=) c.570T>A (p.Gly190=) | |
16 | g.31184994T>C | CA494928680 | FUS | c.579T>C (p.Gly193=) c.576T>C (p.Gly192=) n.644T>C c.567T>C (p.Gly189=) n.684T>C c.-2T>C (n.-2T>C) c.573T>C (p.Gly191=) c.570T>C (p.Gly190=) | |
16 | g.31184994T>G | CA494928681 | FUS | c.579T>G (p.Gly193=) c.576T>G (p.Gly192=) n.644T>G c.567T>G (p.Gly189=) n.684T>G c.-2T>G (n.-2T>G) c.573T>G (p.Gly191=) c.570T>G (p.Gly190=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.31184994T= | CA2216944700 | FUS | c.579T= (p.Gly193=) c.576T= (p.Gly192=) n.644T= c.567T= (p.Gly189=) n.684T= c.-2T= (n.-2T=) c.573T= (p.Gly191=) c.570T= (p.Gly190=) | |
16 | g.31184995T>A | CA395669699 | FUS | c.580T>A (p.Tyr194Asn) c.577T>A (p.Tyr193Asn) n.645T>A c.568T>A (p.Tyr190Asn) n.685T>A c.-1T>A (n.-1T>A) c.574T>A (p.Tyr192Asn) c.571T>A (p.Tyr191Asn) | |
16 | g.31184995T>C | CA395669697 | FUS | c.580T>C (p.Tyr194His) c.577T>C (p.Tyr193His) n.645T>C c.568T>C (p.Tyr190His) n.685T>C c.-1T>C (n.-1T>C) c.574T>C (p.Tyr192His) c.571T>C (p.Tyr191His) | |
16 | g.31184995T>G | CA395669695 | FUS | c.580T>G (p.Tyr194Asp) c.577T>G (p.Tyr193Asp) n.645T>G c.568T>G (p.Tyr190Asp) n.685T>G c.-1T>G (n.-1T>G) c.574T>G (p.Tyr192Asp) c.571T>G (p.Tyr191Asp) | |
16 | g.31184996A>C | CA395669700 | FUS | c.581A>C (p.Tyr194Ser) c.578A>C (p.Tyr193Ser) n.646A>C c.569A>C (p.Tyr190Ser) n.686A>C c.1A>C (p.Met1Leu) c.575A>C (p.Tyr192Ser) c.572A>C (p.Tyr191Ser) | |
16 | g.31184996A>G | CA395669701 | FUS | c.581A>G (p.Tyr194Cys) c.578A>G (p.Tyr193Cys) n.646A>G c.569A>G (p.Tyr190Cys) n.686A>G c.1A>G (p.Met1Val) c.575A>G (p.Tyr192Cys) c.572A>G (p.Tyr191Cys) | |
16 | g.31184996A>T | CA395669703 | FUS | c.581A>T (p.Tyr194Phe) c.578A>T (p.Tyr193Phe) n.646A>T c.569A>T (p.Tyr190Phe) n.686A>T c.1A>T (p.Met1Leu) c.575A>T (p.Tyr192Phe) c.572A>T (p.Tyr191Phe) | |
16 | g.31184997T>A | CA395669705 | FUS | c.582T>A (p.Tyr194Ter) c.579T>A (p.Tyr193Ter) n.647T>A c.570T>A (p.Tyr190Ter) n.687T>A c.2T>A (p.Met1Lys) c.576T>A (p.Tyr192Ter) c.573T>A (p.Tyr191Ter) | |
16 | g.31184997T>C | CA8023714 | FUS | c.582T>C (p.Tyr194=) c.579T>C (p.Tyr193=) n.647T>C c.570T>C (p.Tyr190=) n.687T>C c.2T>C (p.Met1Thr) c.576T>C (p.Tyr192=) c.573T>C (p.Tyr191=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31184997T>G | CA395669707 | FUS | c.582T>G (p.Tyr194Ter) c.579T>G (p.Tyr193Ter) n.647T>G c.570T>G (p.Tyr190Ter) n.687T>G c.2T>G (p.Met1Arg) c.576T>G (p.Tyr192Ter) c.573T>G (p.Tyr191Ter) | |
16 | g.31184997T= | CA2216944707 | FUS | c.582T= (p.Tyr194=) c.579T= (p.Tyr193=) n.647T= c.570T= (p.Tyr190=) n.687T= c.2T= (p.Met1=) c.576T= (p.Tyr192=) c.573T= (p.Tyr191=) | |
16 | g.31184998G>A | CA395669709 | FUS | c.583G>A (p.Gly195Ser) c.580G>A (p.Gly194Ser) n.648G>A c.571G>A (p.Gly191Ser) n.688G>A c.3G>A (p.Met1Ile) c.577G>A (p.Gly193Ser) c.574G>A (p.Gly192Ser) | dbSNP |
16 | g.31184998G>C | CA395669711 | FUS | c.583G>C (p.Gly195Arg) c.580G>C (p.Gly194Arg) n.648G>C c.571G>C (p.Gly191Arg) n.688G>C c.3G>C (p.Met1Ile) c.577G>C (p.Gly193Arg) c.574G>C (p.Gly192Arg) | |
16 | g.31184998G= | CA2216944709 | FUS | c.583G= (p.Gly195=) c.580G= (p.Gly194=) n.648G= c.571G= (p.Gly191=) n.688G= c.3G= (p.Met1=) c.577G= (p.Gly193=) c.574G= (p.Gly192=) | |
16 | g.31184998G>T | CA395669713 | FUS | c.583G>T (p.Gly195Cys) c.580G>T (p.Gly194Cys) n.648G>T c.571G>T (p.Gly191Cys) n.688G>T c.3G>T (p.Met1Ile) c.577G>T (p.Gly193Cys) c.574G>T (p.Gly192Cys) | |
16 | g.31184999G>A | CA395669714 | FUS | c.584G>A (p.Gly195Asp) c.581G>A (p.Gly194Asp) n.649G>A c.572G>A (p.Gly191Asp) n.689G>A c.4G>A (p.Ala2Thr) c.578G>A (p.Gly193Asp) c.575G>A (p.Gly192Asp) | |
16 | g.31184999G>C | CA395669715 | FUS | c.584G>C (p.Gly195Ala) c.581G>C (p.Gly194Ala) n.649G>C c.572G>C (p.Gly191Ala) n.689G>C c.4G>C (p.Ala2Pro) c.578G>C (p.Gly193Ala) c.575G>C (p.Gly192Ala) | |
16 | g.31184999G>T | CA395669717 | FUS | c.584G>T (p.Gly195Val) c.581G>T (p.Gly194Val) n.649G>T c.572G>T (p.Gly191Val) n.689G>T c.4G>T (p.Ala2Ser) c.578G>T (p.Gly193Val) c.575G>T (p.Gly192Val) | |
16 | g.31185000C>A | CA494928687 | FUS | c.585C>A (p.Gly195=) c.582C>A (p.Gly194=) n.650C>A c.573C>A (p.Gly191=) n.690C>A c.5C>A (p.Ala2Glu) c.579C>A (p.Gly193=) c.576C>A (p.Gly192=) | |
16 | g.31185000C= | CA2216944712 | FUS | c.585C= (p.Gly195=) c.582C= (p.Gly194=) n.650C= c.573C= (p.Gly191=) n.690C= c.5C= (p.Ala2=) c.579C= (p.Gly193=) c.576C= (p.Gly192=) | |
16 | g.31185000C>G | CA494928688 | FUS | c.585C>G (p.Gly195=) c.582C>G (p.Gly194=) n.650C>G c.573C>G (p.Gly191=) n.690C>G c.5C>G (p.Ala2Gly) c.579C>G (p.Gly193=) c.576C>G (p.Gly192=) | |
16 | g.31185000C>T | CA494928690 | FUS | c.585C>T (p.Gly195=) c.582C>T (p.Gly194=) n.650C>T c.573C>T (p.Gly191=) n.690C>T c.5C>T (p.Ala2Val) c.579C>T (p.Gly193=) c.576C>T (p.Gly192=) | dbSNP gnomAD v4 |
16 | g.31185001A>C | CA395669723 | FUS | c.586A>C (p.Asn196His) c.583A>C (p.Asn195His) n.651A>C c.574A>C (p.Asn192His) n.691A>C c.6A>C (p.Ala2=) c.580A>C (p.Asn194His) c.577A>C (p.Asn193His) | |
16 | g.31185001A>G | CA395669721 | FUS | c.586A>G (p.Asn196Asp) c.583A>G (p.Asn195Asp) n.651A>G c.574A>G (p.Asn192Asp) n.691A>G c.6A>G (p.Ala2=) c.580A>G (p.Asn194Asp) c.577A>G (p.Asn193Asp) | gnomAD v4 |
16 | g.31185001A>T | CA395669720 | FUS | c.586A>T (p.Asn196Tyr) c.583A>T (p.Asn195Tyr) n.651A>T c.574A>T (p.Asn192Tyr) n.691A>T c.6A>T (p.Ala2=) c.580A>T (p.Asn194Tyr) c.577A>T (p.Asn193Tyr) | |
16 | g.31185002A= | CA2216944716 | FUS | c.587A= (p.Asn196=) c.584A= (p.Asn195=) n.652A= c.575A= (p.Asn192=) n.692A= c.7A= (p.Ile3=) c.581A= (p.Asn194=) c.578A= (p.Asn193=) | |
16 | g.31185002A>C | CA395669727 | FUS | c.587A>C (p.Asn196Thr) c.584A>C (p.Asn195Thr) n.652A>C c.575A>C (p.Asn192Thr) n.692A>C c.7A>C (p.Ile3Leu) c.581A>C (p.Asn194Thr) c.578A>C (p.Asn193Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31185002A>G | CA8023715 | FUS | c.587A>G (p.Asn196Ser) c.584A>G (p.Asn195Ser) n.652A>G c.575A>G (p.Asn192Ser) n.692A>G c.7A>G (p.Ile3Val) c.581A>G (p.Asn194Ser) c.578A>G (p.Asn193Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31185002A>T | CA395669725 | FUS | c.587A>T (p.Asn196Ile) c.584A>T (p.Asn195Ile) n.652A>T c.575A>T (p.Asn192Ile) n.692A>T c.7A>T (p.Ile3Phe) c.581A>T (p.Asn194Ile) c.578A>T (p.Asn193Ile) | |
16 | g.31185003T>A | CA395669729 | FUS | c.588T>A (p.Asn196Lys) c.585T>A (p.Asn195Lys) n.653T>A c.576T>A (p.Asn192Lys) n.693T>A c.8T>A (p.Ile3Asn) c.582T>A (p.Asn194Lys) c.579T>A (p.Asn193Lys) | |
16 | g.31185003T>C | CA494928694 | FUS | c.588T>C (p.Asn196=) c.585T>C (p.Asn195=) n.653T>C c.576T>C (p.Asn192=) n.693T>C c.8T>C (p.Ile3Thr) c.582T>C (p.Asn194=) c.579T>C (p.Asn193=) | |
16 | g.31185003T>G | CA395669731 | FUS | c.588T>G (p.Asn196Lys) c.585T>G (p.Asn195Lys) n.653T>G c.576T>G (p.Asn192Lys) n.693T>G c.8T>G (p.Ile3Ser) c.582T>G (p.Asn194Lys) c.579T>G (p.Asn193Lys) | |
16 | g.31185004C>A | CA395669732 | FUS | c.589C>A (p.Gln197Lys) c.586C>A (p.Gln196Lys) n.654C>A c.577C>A (p.Gln193Lys) n.694C>A c.9C>A (p.Ile3=) c.583C>A (p.Gln195Lys) c.580C>A (p.Gln194Lys) | |
16 | g.31185004C= | CA2216944722 | FUS | c.589C= (p.Gln197=) c.586C= (p.Gln196=) n.654C= c.577C= (p.Gln193=) n.694C= c.9C= (p.Ile3=) c.583C= (p.Gln195=) c.580C= (p.Gln194=) | |
16 | g.31185004C>G | CA395669733 | FUS | c.589C>G (p.Gln197Glu) c.586C>G (p.Gln196Glu) n.654C>G c.577C>G (p.Gln193Glu) n.694C>G c.9C>G (p.Ile3Met) c.583C>G (p.Gln195Glu) c.580C>G (p.Gln194Glu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31185004C>T | CA395669735 | FUS | c.589C>T (p.Gln197Ter) c.586C>T (p.Gln196Ter) n.654C>T c.577C>T (p.Gln193Ter) n.694C>T c.9C>T (p.Ile3=) c.583C>T (p.Gln195Ter) c.580C>T (p.Gln194Ter) | |
16 | g.31185005A>C | CA395669737 | FUS | c.590A>C (p.Gln197Pro) c.587A>C (p.Gln196Pro) n.655A>C c.578A>C (p.Gln193Pro) n.695A>C c.10A>C (p.Lys4Gln) c.584A>C (p.Gln195Pro) c.581A>C (p.Gln194Pro) | |
16 | g.31185005A>G | CA395669738 | FUS | c.590A>G (p.Gln197Arg) c.587A>G (p.Gln196Arg) n.655A>G c.578A>G (p.Gln193Arg) n.695A>G c.10A>G (p.Lys4Glu) c.584A>G (p.Gln195Arg) c.581A>G (p.Gln194Arg) | |
16 | g.31185005A>T | CA395669740 | FUS | c.590A>T (p.Gln197Leu) c.587A>T (p.Gln196Leu) n.655A>T c.578A>T (p.Gln193Leu) n.695A>T c.10A>T (p.Lys4Ter) c.584A>T (p.Gln195Leu) c.581A>T (p.Gln194Leu) | |
16 | g.31185006A= | CA2216944725 | FUS | c.591A= (p.Gln197=) c.588A= (p.Gln196=) n.656A= c.579A= (p.Gln193=) n.696A= c.11A= (p.Lys4=) c.585A= (p.Gln195=) c.582A= (p.Gln194=) | |
16 | g.31185006A>C | CA395669742 | FUS | c.591A>C (p.Gln197His) c.588A>C (p.Gln196His) n.656A>C c.579A>C (p.Gln193His) n.696A>C c.11A>C (p.Lys4Thr) c.585A>C (p.Gln195His) c.582A>C (p.Gln194His) | |
16 | g.31185006A>G | CA494928699 | FUS | c.591A>G (p.Gln197=) c.588A>G (p.Gln196=) n.656A>G c.579A>G (p.Gln193=) n.696A>G c.11A>G (p.Lys4Arg) c.585A>G (p.Gln195=) c.582A>G (p.Gln194=) | dbSNP |
16 | g.31185006A>T | CA395669744 | FUS | c.591A>T (p.Gln197His) c.588A>T (p.Gln196His) n.656A>T c.579A>T (p.Gln193His) n.696A>T c.11A>T (p.Lys4Met) c.585A>T (p.Gln195His) c.582A>T (p.Gln194His) | |
16 | g.31185007G>A | CA395669752 | FUS | c.592G>A (p.Asp198Asn) c.589G>A (p.Asp197Asn) n.657G>A c.580G>A (p.Asp194Asn) n.697G>A c.12G>A (p.Lys4=) c.586G>A (p.Asp196Asn) c.583G>A (p.Asp195Asn) | |
16 | g.31185007G>C | CA395669750 | FUS | c.592G>C (p.Asp198His) c.589G>C (p.Asp197His) n.657G>C c.580G>C (p.Asp194His) n.697G>C c.12G>C (p.Lys4Asn) c.586G>C (p.Asp196His) c.583G>C (p.Asp195His) | |
16 | g.31185007G>T | CA395669748 | FUS | c.592G>T (p.Asp198Tyr) c.589G>T (p.Asp197Tyr) n.657G>T c.580G>T (p.Asp194Tyr) n.697G>T c.12G>T (p.Lys4Asn) c.586G>T (p.Asp196Tyr) c.583G>T (p.Asp195Tyr) | COSMIC COSMIC |
16 | g.31185008A>C | CA395669755 | FUS | c.593A>C (p.Asp198Ala) c.590A>C (p.Asp197Ala) n.658A>C c.581A>C (p.Asp194Ala) n.698A>C c.13A>C (p.Thr5Pro) c.587A>C (p.Asp196Ala) c.584A>C (p.Asp195Ala) | |
16 | g.31185008A>G | CA395669757 | FUS | c.593A>G (p.Asp198Gly) c.590A>G (p.Asp197Gly) n.658A>G c.581A>G (p.Asp194Gly) n.698A>G c.13A>G (p.Thr5Ala) c.587A>G (p.Asp196Gly) c.584A>G (p.Asp195Gly) | |
16 | g.31185008A>T | CA395669759 | FUS | c.593A>T (p.Asp198Val) c.590A>T (p.Asp197Val) n.658A>T c.581A>T (p.Asp194Val) n.698A>T c.13A>T (p.Thr5Ser) c.587A>T (p.Asp196Val) c.584A>T (p.Asp195Val) | |
16 | g.31185009C>A | CA395669761 | FUS | c.594C>A (p.Asp198Glu) c.591C>A (p.Asp197Glu) n.659C>A c.582C>A (p.Asp194Glu) n.699C>A c.14C>A (p.Thr5Asn) c.588C>A (p.Asp196Glu) c.585C>A (p.Asp195Glu) | |
16 | g.31185009C= | CA2216944727 | FUS | c.594C= (p.Asp198=) c.591C= (p.Asp197=) n.659C= c.582C= (p.Asp194=) n.699C= c.14C= (p.Thr5=) c.588C= (p.Asp196=) c.585C= (p.Asp195=) | |
16 | g.31185009C>G | CA395669762 | FUS | c.594C>G (p.Asp198Glu) c.591C>G (p.Asp197Glu) n.659C>G c.582C>G (p.Asp194Glu) n.699C>G c.14C>G (p.Thr5Ser) c.588C>G (p.Asp196Glu) c.585C>G (p.Asp195Glu) | gnomAD v4 |
16 | g.31185009C>T | CA494928705 | FUS | c.594C>T (p.Asp198=) c.591C>T (p.Asp197=) n.659C>T c.582C>T (p.Asp194=) n.699C>T c.14C>T (p.Thr5Ile) c.588C>T (p.Asp196=) c.585C>T (p.Asp195=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31185010C>A | CA395669765 | FUS | c.595C>A (p.Gln199Lys) c.592C>A (p.Gln198Lys) n.660C>A c.583C>A (p.Gln195Lys) n.700C>A c.15C>A (p.Thr5=) c.589C>A (p.Gln197Lys) c.586C>A (p.Gln196Lys) | |
16 | g.31185010C= | CA2216944733 | FUS | c.595C= (p.Gln199=) c.592C= (p.Gln198=) n.660C= c.583C= (p.Gln195=) n.700C= c.15C= (p.Thr5=) c.589C= (p.Gln197=) c.586C= (p.Gln196=) | |
16 | g.31185010C>G | CA395669766 | FUS | c.595C>G (p.Gln199Glu) c.592C>G (p.Gln198Glu) n.660C>G c.583C>G (p.Gln195Glu) n.700C>G c.15C>G (p.Thr5=) c.589C>G (p.Gln197Glu) c.586C>G (p.Gln196Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31185010C>T | CA395669769 | FUS | c.595C>T (p.Gln199Ter) c.592C>T (p.Gln198Ter) n.660C>T c.583C>T (p.Gln195Ter) n.700C>T c.15C>T (p.Thr5=) c.589C>T (p.Gln197Ter) c.586C>T (p.Gln196Ter) | |
16 | g.31185011A>C | CA395669772 | FUS | c.596A>C (p.Gln199Pro) c.593A>C (p.Gln198Pro) n.661A>C c.584A>C (p.Gln195Pro) n.701A>C c.16A>C (p.Arg6=) c.590A>C (p.Gln197Pro) c.587A>C (p.Gln196Pro) | |
16 | g.31185011A>G | CA395669774 | FUS | c.596A>G (p.Gln199Arg) c.593A>G (p.Gln198Arg) n.661A>G c.584A>G (p.Gln195Arg) n.701A>G c.16A>G (p.Arg6Gly) c.590A>G (p.Gln197Arg) c.587A>G (p.Gln196Arg) | |
16 | g.31185011A>T | CA395669777 | FUS | c.596A>T (p.Gln199Leu) c.593A>T (p.Gln198Leu) n.661A>T c.584A>T (p.Gln195Leu) n.701A>T c.16A>T (p.Arg6Ter) c.590A>T (p.Gln197Leu) c.587A>T (p.Gln196Leu) | |
16 | g.31185012G>A | CA494928709 | FUS | c.597G>A (p.Gln199=) c.594G>A (p.Gln198=) n.662G>A c.585G>A (p.Gln195=) n.702G>A c.17G>A (p.Arg6Lys) c.591G>A (p.Gln197=) c.588G>A (p.Gln196=) | gnomAD v4 |
16 | g.31185012G>C | CA8023716 | FUS | c.597G>C (p.Gln199His) c.594G>C (p.Gln198His) n.662G>C c.585G>C (p.Gln195His) n.702G>C c.17G>C (p.Arg6Thr) c.591G>C (p.Gln197His) c.588G>C (p.Gln196His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31185012G= | CA2216944736 | FUS | c.597G= (p.Gln199=) c.594G= (p.Gln198=) n.662G= c.585G= (p.Gln195=) n.702G= c.17G= (p.Arg6=) c.591G= (p.Gln197=) c.588G= (p.Gln196=) | |
16 | g.31185012G>T | CA395669779 | FUS | c.597G>T (p.Gln199His) c.594G>T (p.Gln198His) n.662G>T c.585G>T (p.Gln195His) n.702G>T c.17G>T (p.Arg6Ile) c.591G>T (p.Gln197His) c.588G>T (p.Gln196His) | |
16 | g.31185013A>C | CA395669784 | FUS | c.598A>C (p.Ser200Arg) c.595A>C (p.Ser199Arg) n.663A>C c.586A>C (p.Ser196Arg) n.703A>C c.18A>C (p.Arg6Ser) c.592A>C (p.Ser198Arg) c.589A>C (p.Ser197Arg) | |
16 | g.31185013A>G | CA395669786 | FUS | c.598A>G (p.Ser200Gly) c.595A>G (p.Ser199Gly) n.663A>G c.586A>G (p.Ser196Gly) n.703A>G c.18A>G (p.Arg6=) c.592A>G (p.Ser198Gly) c.589A>G (p.Ser197Gly) | |
16 | g.31185013A>T | CA395669781 | FUS | c.598A>T (p.Ser200Cys) c.595A>T (p.Ser199Cys) n.663A>T c.586A>T (p.Ser196Cys) n.703A>T c.18A>T (p.Arg6Ser) c.592A>T (p.Ser198Cys) c.589A>T (p.Ser197Cys) | |
16 | g.31185013_31185016delinsAGTG | CA2216944739 | FUS | c.598_601delinsAGTG (p.Ser200=) c.595_598delinsAGTG (p.Ser199=) n.663_666delinsAGTG c.586_589delinsAGTG (p.Ser196=) n.703_706delinsAGTG c.18_21delinsAGTG (p.Arg6=) c.592_595delinsAGTG (p.Ser198=) c.589_592delinsAGTG (p.Ser197=) | |
16 | g.31185014G>A | CA395669787 | FUS | c.599G>A (p.Ser200Asn) c.596G>A (p.Ser199Asn) n.664G>A c.587G>A (p.Ser196Asn) n.704G>A c.19G>A (p.Val7Met) c.593G>A (p.Ser198Asn) c.590G>A (p.Ser197Asn) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31185014G>C | CA395669789 | FUS | c.599G>C (p.Ser200Thr) c.596G>C (p.Ser199Thr) n.664G>C c.587G>C (p.Ser196Thr) n.704G>C c.19G>C (p.Val7Leu) c.593G>C (p.Ser198Thr) c.590G>C (p.Ser197Thr) | |
16 | g.31185014G= | CA2216944742 | FUS | c.599G= (p.Ser200=) c.596G= (p.Ser199=) n.664G= c.587G= (p.Ser196=) n.704G= c.19G= (p.Val7=) c.593G= (p.Ser198=) c.590G= (p.Ser197=) | |
16 | g.31185014G>T | CA395669788 | FUS | c.599G>T (p.Ser200Ile) c.596G>T (p.Ser199Ile) n.664G>T c.587G>T (p.Ser196Ile) n.704G>T c.19G>T (p.Val7Leu) c.593G>T (p.Ser198Ile) c.590G>T (p.Ser197Ile) | |
16 | g.31185018_31185020del | CA622172601 | FUS | c.603_605del (p.Gly202del) c.600_602del (p.Gly201del) n.668_670del c.591_593del (p.Gly198del) n.708_710del c.23_25del (p.Val8del) c.597_599del (p.Gly200del) c.594_596del (p.Gly199del) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31185015T>A | CA395669790 | FUS | c.600T>A (p.Ser200Arg) c.597T>A (p.Ser199Arg) n.665T>A c.588T>A (p.Ser196Arg) n.705T>A c.20T>A (p.Val7Glu) c.594T>A (p.Ser198Arg) c.591T>A (p.Ser197Arg) | |
16 | g.31185015T>C | CA494928716 | FUS | c.600T>C (p.Ser200=) c.597T>C (p.Ser199=) n.665T>C c.588T>C (p.Ser196=) n.705T>C c.20T>C (p.Val7Ala) c.594T>C (p.Ser198=) c.591T>C (p.Ser197=) | gnomAD v4 |
16 | g.31185015T>G | CA395669791 | FUS | c.600T>G (p.Ser200Arg) c.597T>G (p.Ser199Arg) n.665T>G c.588T>G (p.Ser196Arg) n.705T>G c.20T>G (p.Val7Gly) c.594T>G (p.Ser198Arg) c.591T>G (p.Ser197Arg) | gnomAD v3 gnomAD v4 |
16 | g.31185016G>A | CA395669793 | FUS | c.601G>A (p.Gly201Ser) c.598G>A (p.Gly200Ser) n.666G>A c.589G>A (p.Gly197Ser) n.706G>A c.21G>A (p.Val7=) c.595G>A (p.Gly199Ser) c.592G>A (p.Gly198Ser) | |
16 | g.31185016G>C | CA395669794 | FUS | c.601G>C (p.Gly201Arg) c.598G>C (p.Gly200Arg) n.666G>C c.589G>C (p.Gly197Arg) n.706G>C c.21G>C (p.Val7=) c.595G>C (p.Gly199Arg) c.592G>C (p.Gly198Arg) | |
16 | g.31185016G>T | CA395669795 | FUS | c.601G>T (p.Gly201Cys) c.598G>T (p.Gly200Cys) n.666G>T c.589G>T (p.Gly197Cys) n.706G>T c.21G>T (p.Val7=) c.595G>T (p.Gly199Cys) c.592G>T (p.Gly198Cys) | |
16 | g.31185016_31185052delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC | CA2216944745 | FUS | c.601_637delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Gly201=) c.598_634delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Gly200=) n.666_702delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC c.589_625delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Gly197=) n.706_742delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC c.21_57delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Val7=) c.595_631delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Gly199=) c.592_628delinsGGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACC (p.Gly198=) | |
16 | g.31185017G>A | CA395669798 | FUS | c.602G>A (p.Gly201Asp) c.599G>A (p.Gly200Asp) n.667G>A c.590G>A (p.Gly197Asp) n.707G>A c.22G>A (p.Val8Met) c.596G>A (p.Gly199Asp) c.593G>A (p.Gly198Asp) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31185017G>C | CA395669801 | FUS | c.602G>C (p.Gly201Ala) c.599G>C (p.Gly200Ala) n.667G>C c.590G>C (p.Gly197Ala) n.707G>C c.22G>C (p.Val8Leu) c.596G>C (p.Gly199Ala) c.593G>C (p.Gly198Ala) | |
16 | g.31185017G= | CA2216944754 | FUS | c.602G= (p.Gly201=) c.599G= (p.Gly200=) n.667G= c.590G= (p.Gly197=) n.707G= c.22G= (p.Val8=) c.596G= (p.Gly199=) c.593G= (p.Gly198=) | |
16 | g.31185017G>T | CA8023717 | FUS | c.602G>T (p.Gly201Val) c.599G>T (p.Gly200Val) n.667G>T c.590G>T (p.Gly197Val) n.707G>T c.22G>T (p.Val8Leu) c.596G>T (p.Gly199Val) c.593G>T (p.Gly198Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.31185024_31185059del | CA2216944752 | FUS | c.609_644del (p.Gly204_Gly215del) c.606_641del (p.Gly203_Gly214del) n.674_709del c.597_632del (p.Gly200_Gly211del) n.714_749del c.29_64del (p.Val10_Glu21del) c.603_638del (p.Gly202_Gly213del) c.600_635del (p.Gly201_Gly212del) | dbSNP |
16 | g.31185018T>A | CA494928721 | FUS | c.603T>A (p.Gly201=) c.600T>A (p.Gly200=) n.668T>A c.591T>A (p.Gly197=) n.708T>A c.23T>A (p.Val8Glu) c.597T>A (p.Gly199=) c.594T>A (p.Gly198=) | |
16 | g.31185018T>C | CA494928723 | FUS | c.603T>C (p.Gly201=) c.600T>C (p.Gly200=) n.668T>C c.591T>C (p.Gly197=) n.708T>C c.23T>C (p.Val8Ala) c.597T>C (p.Gly199=) c.594T>C (p.Gly198=) | |
16 | g.31185018T>G | CA494928722 | FUS | c.603T>G (p.Gly201=) c.600T>G (p.Gly200=) n.668T>G c.591T>G (p.Gly197=) n.708T>G c.23T>G (p.Val8Gly) c.597T>G (p.Gly199=) c.594T>G (p.Gly198=) | |
16 | g.31185019G>A | CA280594716 | FUS | c.604G>A (p.Gly202Arg) c.601G>A (p.Gly201Arg) n.669G>A c.592G>A (p.Gly198Arg) n.709G>A c.24G>A (p.Val8=) c.598G>A (p.Gly200Arg) c.595G>A (p.Gly199Arg) | dbSNP gnomAD v4 |
16 | g.31185019G>C | CA395669806 | FUS | c.604G>C (p.Gly202Arg) c.601G>C (p.Gly201Arg) n.669G>C c.592G>C (p.Gly198Arg) n.709G>C c.24G>C (p.Val8=) c.598G>C (p.Gly200Arg) c.595G>C (p.Gly199Arg) | |
16 | g.31185019G= | CA2216944762 | FUS | c.604G= (p.Gly202=) c.601G= (p.Gly201=) n.669G= c.592G= (p.Gly198=) n.709G= c.24G= (p.Val8=) c.598G= (p.Gly200=) c.595G= (p.Gly199=) | |
16 | g.31185019G>T | CA395669808 | FUS | c.604G>T (p.Gly202Ter) c.601G>T (p.Gly201Ter) n.669G>T c.592G>T (p.Gly198Ter) n.709G>T c.24G>T (p.Val8=) c.598G>T (p.Gly200Ter) c.595G>T (p.Gly199Ter) | |
16 | g.31185020G>A | CA395669814 | FUS | c.605G>A (p.Gly202Glu) c.602G>A (p.Gly201Glu) n.670G>A c.593G>A (p.Gly198Glu) n.710G>A c.25G>A (p.Glu9Lys) c.599G>A (p.Gly200Glu) c.596G>A (p.Gly199Glu) | |
16 | g.31185020G>C | CA395669812 | FUS | c.605G>C (p.Gly202Ala) c.602G>C (p.Gly201Ala) n.670G>C c.593G>C (p.Gly198Ala) n.710G>C c.25G>C (p.Glu9Gln) c.599G>C (p.Gly200Ala) c.596G>C (p.Gly199Ala) | gnomAD v4 |
16 | g.31185020G>T | CA395669811 | FUS | c.605G>T (p.Gly202Val) c.602G>T (p.Gly201Val) n.670G>T c.593G>T (p.Gly198Val) n.710G>T c.25G>T (p.Glu9Ter) c.599G>T (p.Gly200Val) c.596G>T (p.Gly199Val) | |
16 | g.31185021A= | CA2216944768 | FUS | c.606A= (p.Gly202=) c.603A= (p.Gly201=) n.671A= c.594A= (p.Gly198=) n.711A= c.26A= (p.Glu9=) c.600A= (p.Gly200=) c.597A= (p.Gly199=) | |
16 | g.31185021A>C | CA494928726 | FUS | c.606A>C (p.Gly202=) c.603A>C (p.Gly201=) n.671A>C c.594A>C (p.Gly198=) n.711A>C c.26A>C (p.Glu9Ala) c.600A>C (p.Gly200=) c.597A>C (p.Gly199=) | |
16 | g.31185021A>G | CA494928727 | FUS | c.606A>G (p.Gly202=) c.603A>G (p.Gly201=) n.671A>G c.594A>G (p.Gly198=) n.711A>G c.26A>G (p.Glu9Gly) c.600A>G (p.Gly200=) c.597A>G (p.Gly199=) | |
16 | g.31185021A>T | CA280594719 | FUS | c.606A>T (p.Gly202=) c.603A>T (p.Gly201=) n.671A>T c.594A>T (p.Gly198=) n.711A>T c.26A>T (p.Glu9Val) c.600A>T (p.Gly200=) c.597A>T (p.Gly199=) | dbSNP |
16 | g.31185022G>A | CA395669821 | FUS | c.607G>A (p.Gly203Ser) c.604G>A (p.Gly202Ser) n.672G>A c.595G>A (p.Gly199Ser) n.712G>A c.27G>A (p.Glu9=) c.601G>A (p.Gly201Ser) c.598G>A (p.Gly200Ser) | |
16 | g.31185022G>C | CA395669822 | FUS | c.607G>C (p.Gly203Arg) c.604G>C (p.Gly202Arg) n.672G>C c.595G>C (p.Gly199Arg) n.712G>C c.27G>C (p.Glu9Asp) c.601G>C (p.Gly201Arg) c.598G>C (p.Gly200Arg) | |
16 | g.31185022G>T | CA395669824 | FUS | c.607G>T (p.Gly203Cys) c.604G>T (p.Gly202Cys) n.672G>T c.595G>T (p.Gly199Cys) n.712G>T c.27G>T (p.Glu9Asp) c.601G>T (p.Gly201Cys) c.598G>T (p.Gly200Cys) | |
16 | g.31185028_31185036del | CA2580091516 | FUS | c.613_621del (p.Ser205_Gly207del) c.610_618del (p.Ser204_Gly206del) n.678_686del c.601_609del (p.Ser201_Gly203del) n.718_726del c.33_41del (p.Ala12_Ala14del) c.607_615del (p.Ser203_Gly205del) c.604_612del (p.Ser202_Gly204del) | ClinVar |
16 | g.31185023G>A | CA395669827 | FUS | c.608G>A (p.Gly203Asp) c.605G>A (p.Gly202Asp) n.673G>A c.596G>A (p.Gly199Asp) n.713G>A c.28G>A (p.Val10Met) c.602G>A (p.Gly201Asp) c.599G>A (p.Gly200Asp) | ClinVar dbSNP gnomAD v4 |
16 | g.31185023G>C | CA395669828 | FUS | c.608G>C (p.Gly203Ala) c.605G>C (p.Gly202Ala) n.673G>C c.596G>C (p.Gly199Ala) n.713G>C c.28G>C (p.Val10Leu) c.602G>C (p.Gly201Ala) c.599G>C (p.Gly200Ala) | |
16 | g.31185023G= | CA2216944771 | FUS | c.608G= (p.Gly203=) c.605G= (p.Gly202=) n.673G= c.596G= (p.Gly199=) n.713G= c.28G= (p.Val10=) c.602G= (p.Gly201=) c.599G= (p.Gly200=) | |
16 | g.31185023G>T | CA395669830 | FUS | c.608G>T (p.Gly203Val) c.605G>T (p.Gly202Val) n.673G>T c.596G>T (p.Gly199Val) n.713G>T c.28G>T (p.Val10Leu) c.602G>T (p.Gly201Val) c.599G>T (p.Gly200Val) | |
16 | g.31185024T>A | CA494928730 | FUS | c.609T>A (p.Gly203=) c.606T>A (p.Gly202=) n.674T>A c.597T>A (p.Gly199=) n.714T>A c.29T>A (p.Val10Glu) c.603T>A (p.Gly201=) c.600T>A (p.Gly200=) | |
16 | g.31185024T>C | CA494928731 | FUS | c.609T>C (p.Gly203=) c.606T>C (p.Gly202=) n.674T>C c.597T>C (p.Gly199=) n.714T>C c.29T>C (p.Val10Ala) c.603T>C (p.Gly201=) c.600T>C (p.Gly200=) | |
16 | g.31185024T>G | CA494928732 | FUS | c.609T>G (p.Gly203=) c.606T>G (p.Gly202=) n.674T>G c.597T>G (p.Gly199=) n.714T>G c.29T>G (p.Val10Gly) c.603T>G (p.Gly201=) c.600T>G (p.Gly200=) | dbSNP |
16 | g.31185024T= | CA2216944777 | FUS | c.609T= (p.Gly203=) c.606T= (p.Gly202=) n.674T= c.597T= (p.Gly199=) n.714T= c.29T= (p.Val10=) c.603T= (p.Gly201=) c.600T= (p.Gly200=) | |
16 | g.31185025G>A | CA395669832 | FUS | c.610G>A (p.Gly204Ser) c.607G>A (p.Gly203Ser) n.675G>A c.598G>A (p.Gly200Ser) n.715G>A c.30G>A (p.Val10=) c.604G>A (p.Gly202Ser) c.601G>A (p.Gly201Ser) | gnomAD v4 |
16 | g.31185025G>C | CA395669834 | FUS | c.610G>C (p.Gly204Arg) c.607G>C (p.Gly203Arg) n.675G>C c.598G>C (p.Gly200Arg) n.715G>C c.30G>C (p.Val10=) c.604G>C (p.Gly202Arg) c.601G>C (p.Gly201Arg) | |
16 | g.31185025G>T | CA395669837 | FUS | c.610G>T (p.Gly204Cys) c.607G>T (p.Gly203Cys) n.675G>T c.598G>T (p.Gly200Cys) n.715G>T c.30G>T (p.Val10=) c.604G>T (p.Gly202Cys) c.601G>T (p.Gly201Cys) | |
16 | g.31185026G>A | CA395669840 | FUS | c.611G>A (p.Gly204Asp) c.608G>A (p.Gly203Asp) n.676G>A c.599G>A (p.Gly200Asp) n.716G>A c.31G>A (p.Ala11Thr) c.605G>A (p.Gly202Asp) c.602G>A (p.Gly201Asp) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31185026G>C | CA395669841 | FUS | c.611G>C (p.Gly204Ala) c.608G>C (p.Gly203Ala) n.676G>C c.599G>C (p.Gly200Ala) n.716G>C c.31G>C (p.Ala11Pro) c.605G>C (p.Gly202Ala) c.602G>C (p.Gly201Ala) | |
16 | g.31185026G= | CA2216944780 | FUS | c.611G= (p.Gly204=) c.608G= (p.Gly203=) n.676G= c.599G= (p.Gly200=) n.716G= c.31G= (p.Ala11=) c.605G= (p.Gly202=) c.602G= (p.Gly201=) | |
16 | g.31185026G>T | CA395669843 | FUS | c.611G>T (p.Gly204Val) c.608G>T (p.Gly203Val) n.676G>T c.599G>T (p.Gly200Val) n.716G>T c.31G>T (p.Ala11Ser) c.605G>T (p.Gly202Val) c.602G>T (p.Gly201Val) | COSMIC |
16 | g.31185027C>A | CA494928743 | FUS | c.612C>A (p.Gly204=) c.609C>A (p.Gly203=) n.677C>A c.600C>A (p.Gly200=) n.717C>A c.32C>A (p.Ala11Glu) c.606C>A (p.Gly202=) c.603C>A (p.Gly201=) | |
16 | g.31185027C= | CA2216944785 | FUS | c.612C= (p.Gly204=) c.609C= (p.Gly203=) n.677C= c.600C= (p.Gly200=) n.717C= c.32C= (p.Ala11=) c.606C= (p.Gly202=) c.603C= (p.Gly201=) | |
16 | g.31185027C>G | CA494928739 | FUS | c.612C>G (p.Gly204=) c.609C>G (p.Gly203=) n.677C>G c.600C>G (p.Gly200=) n.717C>G c.32C>G (p.Ala11Gly) c.606C>G (p.Gly202=) c.603C>G (p.Gly201=) | |
16 | g.31185027C>T | CA494928741 | FUS | c.612C>T (p.Gly204=) c.609C>T (p.Gly203=) n.677C>T c.600C>T (p.Gly200=) n.717C>T c.32C>T (p.Ala11Val) c.606C>T (p.Gly202=) c.603C>T (p.Gly201=) | dbSNP gnomAD v4 |
16 | g.31185028A= | CA2216944787 | FUS | c.613A= (p.Ser205=) c.610A= (p.Ser204=) n.678A= c.601A= (p.Ser201=) n.718A= c.33A= (p.Ala11=) c.607A= (p.Ser203=) c.604A= (p.Ser202=) | |
16 | g.31185028A>C | CA395669846 | FUS | c.613A>C (p.Ser205Arg) c.610A>C (p.Ser204Arg) n.678A>C c.601A>C (p.Ser201Arg) n.718A>C c.33A>C (p.Ala11=) c.607A>C (p.Ser203Arg) c.604A>C (p.Ser202Arg) | |
16 | g.31185028A>G | CA8023718 | FUS | c.613A>G (p.Ser205Gly) c.610A>G (p.Ser204Gly) n.678A>G c.601A>G (p.Ser201Gly) n.718A>G c.33A>G (p.Ala11=) c.607A>G (p.Ser203Gly) c.604A>G (p.Ser202Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31185028A>T | CA395669845 | FUS | c.613A>T (p.Ser205Cys) c.610A>T (p.Ser204Cys) n.678A>T c.601A>T (p.Ser201Cys) n.718A>T c.33A>T (p.Ala11=) c.607A>T (p.Ser203Cys) c.604A>T (p.Ser202Cys) | |
16 | g.31185029G>A | CA395669850 | FUS | c.614G>A (p.Ser205Asn) c.611G>A (p.Ser204Asn) n.679G>A c.602G>A (p.Ser201Asn) n.719G>A c.34G>A (p.Ala12Thr) c.608G>A (p.Ser203Asn) c.605G>A (p.Ser202Asn) | gnomAD v4 |
16 | g.31185029G>C | CA395669847 | FUS | c.614G>C (p.Ser205Thr) c.611G>C (p.Ser204Thr) n.679G>C c.602G>C (p.Ser201Thr) n.719G>C c.34G>C (p.Ala12Pro) c.608G>C (p.Ser203Thr) c.605G>C (p.Ser202Thr) | gnomAD v4 |
16 | g.31185029G>T | CA395669849 | FUS | c.614G>T (p.Ser205Ile) c.611G>T (p.Ser204Ile) n.679G>T c.602G>T (p.Ser201Ile) n.719G>T c.34G>T (p.Ala12Ser) c.608G>T (p.Ser203Ile) c.605G>T (p.Ser202Ile) | |
16 | g.31185030C>A | CA395669852 | FUS | c.615C>A (p.Ser205Arg) c.612C>A (p.Ser204Arg) n.680C>A c.603C>A (p.Ser201Arg) n.720C>A c.35C>A (p.Ala12Glu) c.609C>A (p.Ser203Arg) c.606C>A (p.Ser202Arg) | |
16 | g.31185030C= | CA2216944792 | FUS | c.615C= (p.Ser205=) c.612C= (p.Ser204=) n.680C= c.603C= (p.Ser201=) n.720C= c.35C= (p.Ala12=) c.609C= (p.Ser203=) c.606C= (p.Ser202=) | |
16 | g.31185030C>G | CA395669853 | FUS | c.615C>G (p.Ser205Arg) c.612C>G (p.Ser204Arg) n.680C>G c.603C>G (p.Ser201Arg) n.720C>G c.35C>G (p.Ala12Gly) c.609C>G (p.Ser203Arg) c.606C>G (p.Ser202Arg) | |
16 | g.31185030C>T | CA8023719 | FUS | c.615C>T (p.Ser205=) c.612C>T (p.Ser204=) n.680C>T c.603C>T (p.Ser201=) n.720C>T c.35C>T (p.Ala12Val) c.609C>T (p.Ser203=) c.606C>T (p.Ser202=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31185031G>A | CA259634 | FUS | c.616G>A (p.Gly206Ser) c.613G>A (p.Gly205Ser) n.681G>A c.604G>A (p.Gly202Ser) n.721G>A c.36G>A (p.Ala12=) c.610G>A (p.Gly204Ser) c.607G>A (p.Gly203Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31185031G>C | CA395669857 | FUS | c.616G>C (p.Gly206Arg) c.613G>C (p.Gly205Arg) n.681G>C c.604G>C (p.Gly202Arg) n.721G>C c.36G>C (p.Ala12=) c.610G>C (p.Gly204Arg) c.607G>C (p.Gly203Arg) | |
16 | g.31185031G= | CA2216944798 | FUS | c.616G= (p.Gly206=) c.613G= (p.Gly205=) n.681G= c.604G= (p.Gly202=) n.721G= c.36G= (p.Ala12=) c.610G= (p.Gly204=) c.607G= (p.Gly203=) | |
16 | g.31185031G>T | CA395669855 | FUS | c.616G>T (p.Gly206Cys) c.613G>T (p.Gly205Cys) n.681G>T c.604G>T (p.Gly202Cys) n.721G>T c.36G>T (p.Ala12=) c.610G>T (p.Gly204Cys) c.607G>T (p.Gly203Cys) | |
16 | g.31185032G>A | CA8023720 | FUS | c.617G>A (p.Gly206Asp) c.614G>A (p.Gly205Asp) n.682G>A c.605G>A (p.Gly202Asp) n.722G>A c.37G>A (p.Val13Met) c.611G>A (p.Gly204Asp) c.608G>A (p.Gly203Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31185032G>C | CA395669859 | FUS | c.617G>C (p.Gly206Ala) c.614G>C (p.Gly205Ala) n.682G>C c.605G>C (p.Gly202Ala) n.722G>C c.37G>C (p.Val13Leu) c.611G>C (p.Gly204Ala) c.608G>C (p.Gly203Ala) | COSMIC COSMIC |
16 | g.31185032G= | CA2216944805 | FUS | c.617G= (p.Gly206=) c.614G= (p.Gly205=) n.682G= c.605G= (p.Gly202=) n.722G= c.37G= (p.Val13=) c.611G= (p.Gly204=) c.608G= (p.Gly203=) | |
16 | g.31185032G>T | CA395669860 | FUS | c.617G>T (p.Gly206Val) c.614G>T (p.Gly205Val) n.682G>T c.605G>T (p.Gly202Val) n.722G>T c.37G>T (p.Val13Leu) c.611G>T (p.Gly204Val) c.608G>T (p.Gly203Val) | |
16 | g.31185033T>A | CA494928751 | FUS | c.618T>A (p.Gly206=) c.615T>A (p.Gly205=) n.683T>A c.606T>A (p.Gly202=) n.723T>A c.38T>A (p.Val13Glu) c.612T>A (p.Gly204=) c.609T>A (p.Gly203=) | |
16 | g.31185033T>C | CA494928754 | FUS | c.618T>C (p.Gly206=) c.615T>C (p.Gly205=) n.683T>C c.606T>C (p.Gly202=) n.723T>C c.38T>C (p.Val13Ala) c.612T>C (p.Gly204=) c.609T>C (p.Gly203=) | |
16 | g.31185033T>G | CA494928755 | FUS | c.618T>G (p.Gly206=) c.615T>G (p.Gly205=) n.683T>G c.606T>G (p.Gly202=) n.723T>G c.38T>G (p.Val13Gly) c.612T>G (p.Gly204=) c.609T>G (p.Gly203=) | |
16 | g.31185034G>A | CA395669862 | FUS | c.619G>A (p.Gly207Ser) c.616G>A (p.Gly206Ser) n.684G>A c.607G>A (p.Gly203Ser) n.724G>A c.39G>A (p.Val13=) c.613G>A (p.Gly205Ser) c.610G>A (p.Gly204Ser) | |
16 | g.31185034G>C | CA395669863 | FUS | c.619G>C (p.Gly207Arg) c.616G>C (p.Gly206Arg) n.684G>C c.607G>C (p.Gly203Arg) n.724G>C c.39G>C (p.Val13=) c.613G>C (p.Gly205Arg) c.610G>C (p.Gly204Arg) | |
16 | g.31185034G>T | CA395669864 | FUS | c.619G>T (p.Gly207Cys) c.616G>T (p.Gly206Cys) n.684G>T c.607G>T (p.Gly203Cys) n.724G>T c.39G>T (p.Val13=) c.613G>T (p.Gly205Cys) c.610G>T (p.Gly204Cys) | |
16 | g.31185035G>A | CA395669866 | FUS | c.620G>A (p.Gly207Asp) c.617G>A (p.Gly206Asp) n.685G>A c.608G>A (p.Gly203Asp) n.725G>A c.40G>A (p.Ala14Thr) c.614G>A (p.Gly205Asp) c.611G>A (p.Gly204Asp) | gnomAD v4 |
16 | g.31185035G>C | CA395669869 | FUS | c.620G>C (p.Gly207Ala) c.617G>C (p.Gly206Ala) n.685G>C c.608G>C (p.Gly203Ala) n.725G>C c.40G>C (p.Ala14Pro) c.614G>C (p.Gly205Ala) c.611G>C (p.Gly204Ala) | |
16 | g.31185035G>T | CA395669868 | FUS | c.620G>T (p.Gly207Val) c.617G>T (p.Gly206Val) n.685G>T c.608G>T (p.Gly203Val) n.725G>T c.40G>T (p.Ala14Ser) c.614G>T (p.Gly205Val) c.611G>T (p.Gly204Val) | |
16 | g.31185036C>A | CA494928758 | FUS | c.621C>A (p.Gly207=) c.618C>A (p.Gly206=) n.686C>A c.609C>A (p.Gly203=) n.726C>A c.41C>A (p.Ala14Asp) c.615C>A (p.Gly205=) c.612C>A (p.Gly204=) | |
16 | g.31185036C>G | CA494928759 | FUS | c.621C>G (p.Gly207=) c.618C>G (p.Gly206=) n.686C>G c.609C>G (p.Gly203=) n.726C>G c.41C>G (p.Ala14Gly) c.615C>G (p.Gly205=) c.612C>G (p.Gly204=) | |
16 | g.31185036C>T | CA494928760 | FUS | c.621C>T (p.Gly207=) c.618C>T (p.Gly206=) n.686C>T c.609C>T (p.Gly203=) n.726C>T c.41C>T (p.Ala14Val) c.615C>T (p.Gly205=) c.612C>T (p.Gly204=) | |
16 | g.31185036_31185038del | CA2806500734 | FUS | c.621_623del (p.Tyr208del) c.618_620del (p.Tyr207del) n.686_688del c.609_611del (p.Tyr204del) n.726_728del c.41_43del (p.Ala14_Met15delinsVal) c.615_617del (p.Tyr206del) c.612_614del (p.Tyr205del) | |
16 | g.31185037T>A | CA8023721 | FUS | c.622T>A (p.Tyr208Asn) c.619T>A (p.Tyr207Asn) n.687T>A c.610T>A (p.Tyr204Asn) n.727T>A c.42T>A (p.Ala14=) c.616T>A (p.Tyr206Asn) c.613T>A (p.Tyr205Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.31185037T>C | CA395669870 | FUS | c.622T>C (p.Tyr208His) c.619T>C (p.Tyr207His) n.687T>C c.610T>C (p.Tyr204His) n.727T>C c.42T>C (p.Ala14=) c.616T>C (p.Tyr206His) c.613T>C (p.Tyr205His) | |
16 | g.31185037T>G | CA395669872 | FUS | c.622T>G (p.Tyr208Asp) c.619T>G (p.Tyr207Asp) n.687T>G c.610T>G (p.Tyr204Asp) n.727T>G c.42T>G (p.Ala14=) c.616T>G (p.Tyr206Asp) c.613T>G (p.Tyr205Asp) | |
16 | g.31185037T= | CA2216944808 | FUS | c.622T= (p.Tyr208=) c.619T= (p.Tyr207=) n.687T= c.610T= (p.Tyr204=) n.727T= c.42T= (p.Ala14=) c.616T= (p.Tyr206=) c.613T= (p.Tyr205=) | |
16 | g.31185038A= | CA2216944813 | FUS | c.623A= (p.Tyr208=) c.620A= (p.Tyr207=) n.688A= c.611A= (p.Tyr204=) n.728A= c.43A= (p.Met15=) c.617A= (p.Tyr206=) c.614A= (p.Tyr205=) | |
16 | g.31185038A>C | CA395669873 | FUS | c.623A>C (p.Tyr208Ser) c.620A>C (p.Tyr207Ser) n.688A>C c.611A>C (p.Tyr204Ser) n.728A>C c.43A>C (p.Met15Leu) c.617A>C (p.Tyr206Ser) c.614A>C (p.Tyr205Ser) | gnomAD v4 |
16 | g.31185038A>G | CA395669875 | FUS | c.623A>G (p.Tyr208Cys) c.620A>G (p.Tyr207Cys) n.688A>G c.611A>G (p.Tyr204Cys) n.728A>G c.43A>G (p.Met15Val) c.617A>G (p.Tyr206Cys) c.614A>G (p.Tyr205Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31185038A>T | CA395669876 | FUS | c.623A>T (p.Tyr208Phe) c.620A>T (p.Tyr207Phe) n.688A>T c.611A>T (p.Tyr204Phe) n.728A>T c.43A>T (p.Met15Leu) c.617A>T (p.Tyr206Phe) c.614A>T (p.Tyr205Phe) | |
16 | g.31185039T>A | CA395669877 | FUS | c.624T>A (p.Tyr208Ter) c.621T>A (p.Tyr207Ter) n.689T>A c.612T>A (p.Tyr204Ter) n.729T>A c.44T>A (p.Met15Lys) c.618T>A (p.Tyr206Ter) c.615T>A (p.Tyr205Ter) | |
16 | g.31185039T>C | CA494928764 | FUS | c.624T>C (p.Tyr208=) c.621T>C (p.Tyr207=) n.689T>C c.612T>C (p.Tyr204=) n.729T>C c.44T>C (p.Met15Thr) c.618T>C (p.Tyr206=) c.615T>C (p.Tyr205=) | dbSNP gnomAD v4 |
16 | g.31185039T>G | CA395669878 | FUS | c.624T>G (p.Tyr208Ter) c.621T>G (p.Tyr207Ter) n.689T>G c.612T>G (p.Tyr204Ter) n.729T>G c.44T>G (p.Met15Arg) c.618T>G (p.Tyr206Ter) c.615T>G (p.Tyr205Ter) | |
16 | g.31185040G>A | CA395669880 | FUS | c.625G>A (p.Gly209Arg) c.622G>A (p.Gly208Arg) n.690G>A c.613G>A (p.Gly205Arg) n.730G>A c.45G>A (p.Met15Ile) c.619G>A (p.Gly207Arg) c.616G>A (p.Gly206Arg) | gnomAD v4 |
16 | g.31185040G>C | CA395669882 | FUS | c.625G>C (p.Gly209Arg) c.622G>C (p.Gly208Arg) n.690G>C c.613G>C (p.Gly205Arg) n.730G>C c.45G>C (p.Met15Ile) c.619G>C (p.Gly207Arg) c.616G>C (p.Gly206Arg) | |
16 | g.31185040G>T | CA395669884 | FUS | c.625G>T (p.Gly209Ter) c.622G>T (p.Gly208Ter) n.690G>T c.613G>T (p.Gly205Ter) n.730G>T c.45G>T (p.Met15Ile) c.619G>T (p.Gly207Ter) c.616G>T (p.Gly206Ter) | |
16 | g.31185041G>A | CA395669887 | FUS | c.626G>A (p.Gly209Glu) c.623G>A (p.Gly208Glu) n.691G>A c.614G>A (p.Gly205Glu) n.731G>A c.46G>A (p.Asp16Asn) c.620G>A (p.Gly207Glu) c.617G>A (p.Gly206Glu) | |
16 | g.31185041G>C | CA395669892 | FUS | c.626G>C (p.Gly209Ala) c.623G>C (p.Gly208Ala) n.691G>C c.614G>C (p.Gly205Ala) n.731G>C c.46G>C (p.Asp16His) c.620G>C (p.Gly207Ala) c.617G>C (p.Gly206Ala) | |
16 | g.31185041G>T | CA395669885 | FUS | c.626G>T (p.Gly209Val) c.623G>T (p.Gly208Val) n.691G>T c.614G>T (p.Gly205Val) n.731G>T c.46G>T (p.Asp16Tyr) c.620G>T (p.Gly207Val) c.617G>T (p.Gly206Val) | |
16 | g.31185042A= | CA2216944817 | FUS | c.627A= (p.Gly209=) c.624A= (p.Gly208=) n.692A= c.615A= (p.Gly205=) n.732A= c.47A= (p.Asp16=) c.621A= (p.Gly207=) c.618A= (p.Gly206=) | |
16 | g.31185042A>C | CA494928766 | FUS | c.627A>C (p.Gly209=) c.624A>C (p.Gly208=) n.692A>C c.615A>C (p.Gly205=) n.732A>C c.47A>C (p.Asp16Ala) c.621A>C (p.Gly207=) c.618A>C (p.Gly206=) | |
16 | g.31185042A>G | CA494928767 | FUS | c.627A>G (p.Gly209=) c.624A>G (p.Gly208=) n.692A>G c.615A>G (p.Gly205=) n.732A>G c.47A>G (p.Asp16Gly) c.621A>G (p.Gly207=) c.618A>G (p.Gly206=) | dbSNP |
16 | g.31185042A>T | CA494928768 | FUS | c.627A>T (p.Gly209=) c.624A>T (p.Gly208=) n.692A>T c.615A>T (p.Gly205=) n.732A>T c.47A>T (p.Asp16Val) c.621A>T (p.Gly207=) c.618A>T (p.Gly206=) | |
16 | g.31185043_31185044del | CA2806500735 | FUS | c.628_629del (p.Gln210AlafsTer30) c.625_626del (p.Gln209AlafsTer30) n.693_694del c.616_617del (p.Gln206AlafsTer30) n.733_734del c.48_49del (p.Asp16GlufsTer?) c.622_623del (p.Gln208AlafsTer30) c.619_620del (p.Gln207AlafsTer30) | |
16 | g.31185043C>A | CA395669895 | FUS | c.628C>A (p.Gln210Lys) c.625C>A (p.Gln209Lys) n.693C>A c.616C>A (p.Gln206Lys) n.733C>A c.48C>A (p.Asp16Glu) c.622C>A (p.Gln208Lys) c.619C>A (p.Gln207Lys) | |
16 | g.31185043C>G | CA395669898 | FUS | c.628C>G (p.Gln210Glu) c.625C>G (p.Gln209Glu) n.693C>G c.616C>G (p.Gln206Glu) n.733C>G c.48C>G (p.Asp16Glu) c.622C>G (p.Gln208Glu) c.619C>G (p.Gln207Glu) | |
16 | g.31185043C>T | CA395669896 | FUS | c.628C>T (p.Gln210Ter) c.625C>T (p.Gln209Ter) n.693C>T c.616C>T (p.Gln206Ter) n.733C>T c.48C>T (p.Asp16=) c.622C>T (p.Gln208Ter) c.619C>T (p.Gln207Ter) | |
16 | g.31185044A>C | CA395669901 | FUS | c.629A>C (p.Gln210Pro) c.626A>C (p.Gln209Pro) n.694A>C c.617A>C (p.Gln206Pro) n.734A>C c.49A>C (p.Ser17Arg) c.623A>C (p.Gln208Pro) c.620A>C (p.Gln207Pro) | |
16 | g.31185044A>G | CA395669902 | FUS | c.629A>G (p.Gln210Arg) c.626A>G (p.Gln209Arg) n.694A>G c.617A>G (p.Gln206Arg) n.734A>G c.49A>G (p.Ser17Gly) c.623A>G (p.Gln208Arg) c.620A>G (p.Gln207Arg) | |
16 | g.31185044A>T | CA395669905 | FUS | c.629A>T (p.Gln210Leu) c.626A>T (p.Gln209Leu) n.694A>T c.617A>T (p.Gln206Leu) n.734A>T c.49A>T (p.Ser17Cys) c.623A>T (p.Gln208Leu) c.620A>T (p.Gln207Leu) | |
16 | g.31185045G>A | CA494928771 | FUS | c.630G>A (p.Gln210=) c.627G>A (p.Gln209=) n.695G>A c.618G>A (p.Gln206=) n.735G>A c.50G>A (p.Ser17Asn) c.624G>A (p.Gln208=) c.621G>A (p.Gln207=) | |
16 | g.31185045G>C | CA280594736 | FUS | c.630G>C (p.Gln210His) c.627G>C (p.Gln209His) n.695G>C c.618G>C (p.Gln206His) n.735G>C c.50G>C (p.Ser17Thr) c.624G>C (p.Gln208His) c.621G>C (p.Gln207His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31185045G= | CA2216944824 | FUS | c.630G= (p.Gln210=) c.627G= (p.Gln209=) n.695G= c.618G= (p.Gln206=) n.735G= c.50G= (p.Ser17=) c.624G= (p.Gln208=) c.621G= (p.Gln207=) | |
16 | g.31185045G>T | CA395669909 | FUS | c.630G>T (p.Gln210His) c.627G>T (p.Gln209His) n.695G>T c.618G>T (p.Gln206His) n.735G>T c.50G>T (p.Ser17Ile) c.624G>T (p.Gln208His) c.621G>T (p.Gln207His) | COSMIC |
16 | g.31185046C>A | CA395669910 | FUS | c.631C>A (p.Gln211Lys) c.628C>A (p.Gln210Lys) n.696C>A c.619C>A (p.Gln207Lys) n.736C>A c.51C>A (p.Ser17Arg) c.625C>A (p.Gln209Lys) c.622C>A (p.Gln208Lys) | |
16 | g.31185046C>G | CA395669912 | FUS | c.631C>G (p.Gln211Glu) c.628C>G (p.Gln210Glu) n.696C>G c.619C>G (p.Gln207Glu) n.736C>G c.51C>G (p.Ser17Arg) c.625C>G (p.Gln209Glu) c.622C>G (p.Gln208Glu) | |
16 | g.31185046C>T | CA395669915 | FUS | c.631C>T (p.Gln211Ter) c.628C>T (p.Gln210Ter) n.696C>T c.619C>T (p.Gln207Ter) n.736C>T c.51C>T (p.Ser17=) c.625C>T (p.Gln209Ter) c.622C>T (p.Gln208Ter) | |
16 | g.31185046_31185052del | CA2806500736 | FUS | c.631_637del (p.Gln211ValfsTer?) c.628_634del (p.Gln210ValfsTer?) n.696_702del c.619_625del (p.Gln207ValfsTer?) n.736_742del c.51_57del (p.Ser17ArgfsTer28) c.625_631del (p.Gln209ValfsTer?) c.622_628del (p.Gln208ValfsTer?) | |
16 | g.31185047A>C | CA395669916 | FUS | c.632A>C (p.Gln211Pro) c.629A>C (p.Gln210Pro) n.697A>C c.620A>C (p.Gln207Pro) n.737A>C c.52A>C (p.Arg18=) c.626A>C (p.Gln209Pro) c.623A>C (p.Gln208Pro) | |
16 | g.31185047A>G | CA395669917 | FUS | c.632A>G (p.Gln211Arg) c.629A>G (p.Gln210Arg) n.697A>G c.620A>G (p.Gln207Arg) n.737A>G c.52A>G (p.Arg18Gly) c.626A>G (p.Gln209Arg) c.623A>G (p.Gln208Arg) | |
16 | g.31185047A>T | CA395669919 | FUS | c.632A>T (p.Gln211Leu) c.629A>T (p.Gln210Leu) n.697A>T c.620A>T (p.Gln207Leu) n.737A>T c.52A>T (p.Arg18Trp) c.626A>T (p.Gln209Leu) c.623A>T (p.Gln208Leu) | |
16 | g.31185048G>A | CA494928772 | FUS | c.633G>A (p.Gln211=) c.630G>A (p.Gln210=) n.698G>A c.621G>A (p.Gln207=) n.738G>A c.53G>A (p.Arg18Lys) c.627G>A (p.Gln209=) c.624G>A (p.Gln208=) | |
16 | g.31185048G>C | CA395669921 | FUS | c.633G>C (p.Gln211His) c.630G>C (p.Gln210His) n.698G>C c.621G>C (p.Gln207His) n.738G>C c.53G>C (p.Arg18Thr) c.627G>C (p.Gln209His) c.624G>C (p.Gln208His) | |
16 | g.31185048G>T | CA395669923 | FUS | c.633G>T (p.Gln211His) c.630G>T (p.Gln210His) n.698G>T c.621G>T (p.Gln207His) n.738G>T c.53G>T (p.Arg18Met) c.627G>T (p.Gln209His) c.624G>T (p.Gln208His) | |
16 | g.31185049G>A | CA395669925 | FUS | c.634G>A (p.Asp212Asn) c.631G>A (p.Asp211Asn) n.699G>A c.622G>A (p.Asp208Asn) n.739G>A c.54G>A (p.Arg18=) c.628G>A (p.Asp210Asn) c.625G>A (p.Asp209Asn) | dbSNP |
16 | g.31185049G>C | CA395669929 | FUS | c.634G>C (p.Asp212His) c.631G>C (p.Asp211His) n.699G>C c.622G>C (p.Asp208His) n.739G>C c.54G>C (p.Arg18Ser) c.628G>C (p.Asp210His) c.625G>C (p.Asp209His) | |
16 | g.31185049G= | CA2216944828 | FUS | c.634G= (p.Asp212=) c.631G= (p.Asp211=) n.699G= c.622G= (p.Asp208=) n.739G= c.54G= (p.Arg18=) c.628G= (p.Asp210=) c.625G= (p.Asp209=) | |
16 | g.31185049G>T | CA395669927 | FUS | c.634G>T (p.Asp212Tyr) c.631G>T (p.Asp211Tyr) n.699G>T c.622G>T (p.Asp208Tyr) n.739G>T c.54G>T (p.Arg18Ser) c.628G>T (p.Asp210Tyr) c.625G>T (p.Asp209Tyr) | |
16 | g.31185050A= | CA2216944831 | FUS | c.635A= (p.Asp212=) c.632A= (p.Asp211=) n.700A= c.623A= (p.Asp208=) n.740A= c.55A= (p.Thr19=) c.629A= (p.Asp210=) c.626A= (p.Asp209=) | |
16 | g.31185050A>C | CA395669932 | FUS | c.635A>C (p.Asp212Ala) c.632A>C (p.Asp211Ala) n.700A>C c.623A>C (p.Asp208Ala) n.740A>C c.55A>C (p.Thr19Pro) c.629A>C (p.Asp210Ala) c.626A>C (p.Asp209Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31185050A>G | CA395669934 | FUS | c.635A>G (p.Asp212Gly) c.632A>G (p.Asp211Gly) n.700A>G c.623A>G (p.Asp208Gly) n.740A>G c.55A>G (p.Thr19Ala) c.629A>G (p.Asp210Gly) c.626A>G (p.Asp209Gly) | |
16 | g.31185050A>T | CA395669936 | FUS | c.635A>T (p.Asp212Val) c.632A>T (p.Asp211Val) n.700A>T c.623A>T (p.Asp208Val) n.740A>T c.55A>T (p.Thr19Ser) c.629A>T (p.Asp210Val) c.626A>T (p.Asp209Val) | |
16 | g.31185051C>A | CA395669938 | FUS | c.636C>A (p.Asp212Glu) c.633C>A (p.Asp211Glu) n.701C>A c.624C>A (p.Asp208Glu) n.741C>A c.56C>A (p.Thr19Asn) c.630C>A (p.Asp210Glu) c.627C>A (p.Asp209Glu) | ClinVar |
16 | g.31185051C= | CA2216944835 | FUS | c.636C= (p.Asp212=) c.633C= (p.Asp211=) n.701C= c.624C= (p.Asp208=) n.741C= c.56C= (p.Thr19=) c.630C= (p.Asp210=) c.627C= (p.Asp209=) | |
16 | g.31185051C>G | CA280594739 | FUS | c.636C>G (p.Asp212Glu) c.633C>G (p.Asp211Glu) n.701C>G c.624C>G (p.Asp208Glu) n.741C>G c.56C>G (p.Thr19Ser) c.630C>G (p.Asp210Glu) c.627C>G (p.Asp209Glu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.31185051C>T | CA8023722 | FUS | c.636C>T (p.Asp212=) c.633C>T (p.Asp211=) n.701C>T c.624C>T (p.Asp208=) n.741C>T c.56C>T (p.Thr19Ile) c.630C>T (p.Asp210=) c.627C>T (p.Asp209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31185052C>A | CA395669941 | FUS | c.637C>A (p.Arg213Ser) c.634C>A (p.Arg212Ser) n.702C>A c.625C>A (p.Arg209Ser) n.742C>A c.57C>A (p.Thr19=) c.631C>A (p.Arg211Ser) c.628C>A (p.Arg210Ser) | |
16 | g.31185052C= | CA2216944841 | FUS | c.637C= (p.Arg213=) c.634C= (p.Arg212=) n.702C= c.625C= (p.Arg209=) n.742C= c.57C= (p.Thr19=) c.631C= (p.Arg211=) c.628C= (p.Arg210=) | |
16 | g.31185052C>G | CA395669944 | FUS | c.637C>G (p.Arg213Gly) c.634C>G (p.Arg212Gly) n.702C>G c.625C>G (p.Arg209Gly) n.742C>G c.57C>G (p.Thr19=) c.631C>G (p.Arg211Gly) c.628C>G (p.Arg210Gly) | |
16 | g.31185052C>T | CA8023723 | FUS | c.637C>T (p.Arg213Cys) c.634C>T (p.Arg212Cys) n.702C>T c.625C>T (p.Arg209Cys) n.742C>T c.57C>T (p.Thr19=) c.631C>T (p.Arg211Cys) c.628C>T (p.Arg210Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.31185053G>A | CA395669952 | FUS | c.638G>A (p.Arg213His) c.635G>A (p.Arg212His) n.703G>A c.626G>A (p.Arg209His) n.743G>A c.58G>A (p.Val20Met) c.632G>A (p.Arg211His) c.629G>A (p.Arg210His) | ClinVar gnomAD v4 |
16 | g.31185053G>C | CA395669950 | FUS | c.638G>C (p.Arg213Pro) c.635G>C (p.Arg212Pro) n.703G>C c.626G>C (p.Arg209Pro) n.743G>C c.58G>C (p.Val20Leu) c.632G>C (p.Arg211Pro) c.629G>C (p.Arg210Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31185053G= | CA2216944842 | FUS | c.638G= (p.Arg213=) c.635G= (p.Arg212=) n.703G= c.626G= (p.Arg209=) n.743G= c.58G= (p.Val20=) c.632G= (p.Arg211=) c.629G= (p.Arg210=) | |
16 | g.31185053G>T | CA395669948 | FUS | c.638G>T (p.Arg213Leu) c.635G>T (p.Arg212Leu) n.703G>T c.626G>T (p.Arg209Leu) n.743G>T c.58G>T (p.Val20Leu) c.632G>T (p.Arg211Leu) c.629G>T (p.Arg210Leu) | |
16 | g.31185054T>A | CA494928796 | FUS | c.639T>A (p.Arg213=) c.636T>A (p.Arg212=) n.704T>A c.627T>A (p.Arg209=) n.744T>A c.59T>A (p.Val20Glu) c.633T>A (p.Arg211=) c.630T>A (p.Arg210=) | |
16 | g.31185054T>C | CA494928798 | FUS | c.639T>C (p.Arg213=) c.636T>C (p.Arg212=) n.704T>C c.627T>C (p.Arg209=) n.744T>C c.59T>C (p.Val20Ala) c.633T>C (p.Arg211=) c.630T>C (p.Arg210=) | gnomAD v4 |
16 | g.31185054T>G | CA494928797 | FUS | c.639T>G (p.Arg213=) c.636T>G (p.Arg212=) n.704T>G c.627T>G (p.Arg209=) n.744T>G c.59T>G (p.Val20Gly) c.633T>G (p.Arg211=) c.630T>G (p.Arg210=) | |
16 | g.31185055G>A | CA395669953 | FUS | c.640G>A (p.Gly214Arg) c.637G>A (p.Gly213Arg) n.705G>A c.628G>A (p.Gly210Arg) n.745G>A c.60G>A (p.Val20=) c.634G>A (p.Gly212Arg) c.631G>A (p.Gly211Arg) | COSMIC |
16 | g.31185055G>C | CA395669954 | FUS | c.640G>C (p.Gly214Arg) c.637G>C (p.Gly213Arg) n.705G>C c.628G>C (p.Gly210Arg) n.745G>C c.60G>C (p.Val20=) c.634G>C (p.Gly212Arg) c.631G>C (p.Gly211Arg) | |
16 | g.31185055G>T | CA395669955 | FUS | c.640G>T (p.Gly214Ter) c.637G>T (p.Gly213Ter) n.705G>T c.628G>T (p.Gly210Ter) n.745G>T c.60G>T (p.Val20=) c.634G>T (p.Gly212Ter) c.631G>T (p.Gly211Ter) | |
16 | g.31185056G>A | CA395669956 | FUS | c.641G>A (p.Gly214Glu) c.638G>A (p.Gly213Glu) n.706G>A c.629G>A (p.Gly210Glu) n.746G>A c.61G>A (p.Glu21Lys) c.635G>A (p.Gly212Glu) c.632G>A (p.Gly211Glu) | |
16 | g.31185056G>C | CA395669957 | FUS | c.641G>C (p.Gly214Ala) c.638G>C (p.Gly213Ala) n.706G>C c.629G>C (p.Gly210Ala) n.746G>C c.61G>C (p.Glu21Gln) c.635G>C (p.Gly212Ala) c.632G>C (p.Gly211Ala) | |
16 | g.31185056G>T | CA395669958 | FUS | c.641G>T (p.Gly214Val) c.638G>T (p.Gly213Val) n.706G>T c.629G>T (p.Gly210Val) n.746G>T c.61G>T (p.Glu21Ter) c.635G>T (p.Gly212Val) c.632G>T (p.Gly211Val) | |
16 | g.31185057A= | CA2216944843 | FUS | c.642A= (p.Gly214=) c.639A= (p.Gly213=) n.707A= c.630A= (p.Gly210=) n.747A= c.62A= (p.Glu21=) c.636A= (p.Gly212=) c.633A= (p.Gly211=) | |
16 | g.31185057A>C | CA494928799 | FUS | c.642A>C (p.Gly214=) c.639A>C (p.Gly213=) n.707A>C c.630A>C (p.Gly210=) n.747A>C c.62A>C (p.Glu21Ala) c.636A>C (p.Gly212=) c.633A>C (p.Gly211=) | |
16 | g.31185057A>G | CA494928800 | FUS | c.642A>G (p.Gly214=) c.639A>G (p.Gly213=) n.707A>G c.630A>G (p.Gly210=) n.747A>G c.62A>G (p.Glu21Gly) c.636A>G (p.Gly212=) c.633A>G (p.Gly211=) | dbSNP |
16 | g.31185057A>T | CA494928801 | FUS | c.642A>T (p.Gly214=) c.639A>T (p.Gly213=) n.707A>T c.630A>T (p.Gly210=) n.747A>T c.62A>T (p.Glu21Val) c.636A>T (p.Gly212=) c.633A>T (p.Gly211=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.31185057_31185081delinsAGGCCGCGGCAGGGGTGGCAGTGGT | CA2216944844 | FUS | c.642_666delinsAGGCCGCGGCAGGGGTGGCAGTGGT (p.Gly214=) c.639_663delinsAGGCCGCGGCAGGGGTGGCAGTGGT (p.Gly213=) n.707_731delinsAGGCCGCGGCAGGGGTGGCAGTGGT c.630_654delinsAGGCCGCGGCAGGGGTGGCAGTGGT (p.Gly210=) n.747_771delinsAGGCCGCGGCAGGGGTGGCAGTGGT c.62_86delinsAGGCCGCGGCAGGGGTGGCAGTGGT (p.Glu21=) c.636_660delinsAGGCCGCGGCAGGGGTGGCAGTGGT (p.Gly212=) c.633_657delinsAGGCCGCGGCAGGGGTGGCAGTGGT (p.Gly211=) | |
16 | g.31185058G>A | CA395669960 | FUS | c.643G>A (p.Gly215Ser) c.640G>A (p.Gly214Ser) n.708G>A c.631G>A (p.Gly211Ser) n.748G>A c.63G>A (p.Glu21=) c.637G>A (p.Gly213Ser) c.634G>A (p.Gly212Ser) | |
16 | g.31185058G>C | CA395669962 | FUS | c.643G>C (p.Gly215Arg) c.640G>C (p.Gly214Arg) n.708G>C c.631G>C (p.Gly211Arg) n.748G>C c.63G>C (p.Glu21Asp) c.637G>C (p.Gly213Arg) c.634G>C (p.Gly212Arg) | |
16 | g.31185058G>T | CA395669963 | FUS | c.643G>T (p.Gly215Cys) c.640G>T (p.Gly214Cys) n.708G>T c.631G>T (p.Gly211Cys) n.748G>T c.63G>T (p.Glu21Asp) c.637G>T (p.Gly213Cys) c.634G>T (p.Gly212Cys) | |
16 | g.31185060_31185071del | CA2806500737 | FUS | c.645_656del (p.Arg216_Gly219del) c.642_653del (p.Arg215_Gly218del) n.710_721del c.633_644del (p.Arg212_Gly215del) n.750_761del c.65_76del (p.Ala22_Gly25del) c.639_650del (p.Arg214_Gly217del) c.636_647del (p.Arg213_Gly216del) | |
16 | g.31185061_31185084del | CA719930580 | FUS | c.646_669del (p.Arg216_Gly223del) c.643_666del (p.Arg215_Gly222del) n.711_734del c.634_657del (p.Arg212_Gly219del) n.751_774del c.66_89del (p.Ala23_Ala30del) c.640_663del (p.Arg214_Gly221del) c.637_660del (p.Arg213_Gly220del) | ClinVar dbSNP gnomAD v4 |
16 | g.31185059G>A | CA395669970 | FUS | c.644G>A (p.Gly215Asp) c.641G>A (p.Gly214Asp) n.709G>A c.632G>A (p.Gly211Asp) n.749G>A c.64G>A (p.Ala22Thr) c.638G>A (p.Gly213Asp) c.635G>A (p.Gly212Asp) | |
16 | g.31185059G>C | CA395669972 | FUS | c.644G>C (p.Gly215Ala) c.641G>C (p.Gly214Ala) n.709G>C c.632G>C (p.Gly211Ala) n.749G>C c.64G>C (p.Ala22Pro) c.638G>C (p.Gly213Ala) c.635G>C (p.Gly212Ala) | |
16 | g.31185059G>T | CA395669973 | FUS | c.644G>T (p.Gly215Val) c.641G>T (p.Gly214Val) n.709G>T c.632G>T (p.Gly211Val) n.749G>T c.64G>T (p.Ala22Ser) c.638G>T (p.Gly213Val) c.635G>T (p.Gly212Val) | gnomAD v4 |
16 | g.31185060C>A | CA280594740 | FUS | c.645C>A (p.Gly215=) c.642C>A (p.Gly214=) n.710C>A c.633C>A (p.Gly211=) n.750C>A c.65C>A (p.Ala22Asp) c.639C>A (p.Gly213=) c.636C>A (p.Gly212=) | dbSNP |
16 | g.31185060C= | CA2216944845 | FUS | c.645C= (p.Gly215=) c.642C= (p.Gly214=) n.710C= c.633C= (p.Gly211=) n.750C= c.65C= (p.Ala22=) c.639C= (p.Gly213=) c.636C= (p.Gly212=) | |
16 | g.31185060C>G | CA494928804 | FUS | c.645C>G (p.Gly215=) c.642C>G (p.Gly214=) n.710C>G c.633C>G (p.Gly211=) n.750C>G c.65C>G (p.Ala22Gly) c.639C>G (p.Gly213=) c.636C>G (p.Gly212=) | |
16 | g.31185060C>T | CA494928807 | FUS | c.645C>T (p.Gly215=) c.642C>T (p.Gly214=) n.710C>T c.633C>T (p.Gly211=) n.750C>T c.65C>T (p.Ala22Val) c.639C>T (p.Gly213=) c.636C>T (p.Gly212=) | COSMIC COSMIC |
16 | g.31185060_31185069delinsCCGCGGCAGG | CA2216944846 | FUS | c.645_654delinsCCGCGGCAGG (p.Gly215=) c.642_651delinsCCGCGGCAGG (p.Gly214=) n.710_719delinsCCGCGGCAGG c.633_642delinsCCGCGGCAGG (p.Gly211=) n.750_759delinsCCGCGGCAGG c.65_74delinsCCGCGGCAGG (p.Ala22=) c.639_648delinsCCGCGGCAGG (p.Gly213=) c.636_645delinsCCGCGGCAGG (p.Gly212=) | |
16 | g.31185061C>A | CA395669987 | FUS | c.646C>A (p.Arg216Ser) c.643C>A (p.Arg215Ser) n.711C>A c.634C>A (p.Arg212Ser) n.751C>A c.66C>A (p.Ala22=) c.640C>A (p.Arg214Ser) c.637C>A (p.Arg213Ser) | |
16 | g.31185061C= | CA2216944847 | FUS | c.646C= (p.Arg216=) c.643C= (p.Arg215=) n.711C= c.634C= (p.Arg212=) n.751C= c.66C= (p.Ala22=) c.640C= (p.Arg214=) c.637C= (p.Arg213=) | |
16 | g.31185061C>G | CA395669978 | FUS | c.646C>G (p.Arg216Gly) c.643C>G (p.Arg215Gly) n.711C>G c.634C>G (p.Arg212Gly) n.751C>G c.66C>G (p.Ala22=) c.640C>G (p.Arg214Gly) c.637C>G (p.Arg213Gly) | dbSNP |
16 | g.31185061C>T | CA130062 | FUS | c.646C>T (p.Arg216Cys) c.643C>T (p.Arg215Cys) n.711C>T c.634C>T (p.Arg212Cys) n.751C>T c.66C>T (p.Ala22=) c.640C>T (p.Arg214Cys) c.637C>T (p.Arg213Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31185061_31185069del | CA8023724 | FUS | c.646_654del (p.Arg216_Arg218del) c.643_651del (p.Arg215_Arg217del) n.711_719del c.634_642del (p.Arg212_Arg214del) n.751_759del c.66_74del (p.Ala23_Gly25del) c.640_648del (p.Arg214_Arg216del) c.637_645del (p.Arg213_Arg215del) | dbSNP ExAC gnomAD v2 |
16 | g.31185061_31185088delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG | CA2216944848 | FUS | c.646_673delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG (p.Arg216=) c.643_670delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG (p.Arg215=) n.711_738delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG c.634_661delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG (p.Arg212=) n.751_778delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG c.66_93delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG (p.Ala22=) c.640_667delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG (p.Arg214=) c.637_664delinsCGCGGCAGGGGTGGCAGTGGTGGCGGCG (p.Arg213=) |