Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.46756410_46756458del | CA2585987495 | FKRP | c.960_1008del (p.Leu322CysfsTer?) n.247-5423_247-5375del n.247+7745_247+7793del | gnomAD v4 |
19 | g.46756406_46756452delinsTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAG | CA2339067560 | FKRP | c.956_1002delinsTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAG (p.Leu319=) n.247-5427_247-5381delinsTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAG n.247+7741_247+7787delinsTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAG | |
19 | g.46756409_46756454del | CA633484281 | FKRP | c.959_1004del (p.Arg320LeufsTer?) n.247-5424_247-5379del n.247+7744_247+7789del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46756420_46756431del | CA2576826107 | FKRP | c.970_981del (p.Glu324_Arg327del) n.247-5413_247-5402del n.247+7755_247+7766del | |
19 | g.46756421A>C | CA406496383 | FKRP | c.971A>C (p.Glu324Ala) n.247-5412A>C n.247+7756A>C | |
19 | g.46756421A>G | CA406496384 | FKRP | c.971A>G (p.Glu324Gly) n.247-5412A>G n.247+7756A>G | dbSNP gnomAD v4 |
19 | g.46756421A>T | CA406496385 | FKRP | c.971A>T (p.Glu324Val) n.247-5412A>T n.247+7756A>T | |
19 | g.46756422G>A | CA507975577 | FKRP | c.972G>A (p.Glu324=) n.247-5411G>A n.247+7757G>A | gnomAD v4 |
19 | g.46756422G>C | CA406496386 | FKRP | c.972G>C (p.Glu324Asp) n.247-5411G>C n.247+7757G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.46756422G= | CA2339067585 | FKRP | c.972G= (p.Glu324=) n.247-5411G= n.247+7757G= | |
19 | g.46756422G>T | CA406496387 | FKRP | c.972G>T (p.Glu324Asp) n.247-5411G>T n.247+7757G>T | gnomAD v4 |
19 | g.46756423A>C | CA406496388 | FKRP | c.973A>C (p.Thr325Pro) n.247-5410A>C n.247+7758A>C | |
19 | g.46756423A>G | CA406496390 | FKRP | c.973A>G (p.Thr325Ala) n.247-5410A>G n.247+7758A>G | gnomAD v4 |
19 | g.46756423A>T | CA406496389 | FKRP | c.973A>T (p.Thr325Ser) n.247-5410A>T n.247+7758A>T | |
19 | g.46756424C>A | CA406496391 | FKRP | c.974C>A (p.Thr325Asn) n.247-5409C>A n.247+7759C>A | gnomAD v4 |
19 | g.46756424C>G | CA406496392 | FKRP | c.974C>G (p.Thr325Ser) n.247-5409C>G n.247+7759C>G | gnomAD v4 |
19 | g.46756424C>T | CA406496393 | FKRP | c.974C>T (p.Thr325Ile) n.247-5409C>T n.247+7759C>T | |
19 | g.46756425C>A | CA507975581 | FKRP | c.975C>A (p.Thr325=) n.247-5408C>A n.247+7760C>A | gnomAD v4 |
19 | g.46756425C= | CA2339067588 | FKRP | c.975C= (p.Thr325=) n.247-5408C= n.247+7760C= | |
19 | g.46756425C>G | CA507975582 | FKRP | c.975C>G (p.Thr325=) n.247-5408C>G n.247+7760C>G | ClinVar |
19 | g.46756425C>T | CA507975583 | FKRP | c.975C>T (p.Thr325=) n.247-5408C>T n.247+7760C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46756425_46756432delinsCGCCCGCT | CA2339067589 | FKRP | c.975_982delinsCGCCCGCT (p.Thr325=) n.247-5408_247-5401delinsCGCCCGCT n.247+7760_247+7767delinsCGCCCGCT | |
19 | g.46756425_46756434delinsCGCCCGCTAT | CA2339067587 | FKRP | c.975_984delinsCGCCCGCTAT (p.Thr325=) n.247-5408_247-5399delinsCGCCCGCTAT n.247+7760_247+7769delinsCGCCCGCTAT | |
19 | g.46756427_46756444del | CA2814595002 | FKRP | c.977_994del (p.Ala326_Gly331del) n.247-5406_247-5389del n.247+7762_247+7779del | |
19 | g.46756426G>A | CA406496394 | FKRP | c.976G>A (p.Ala326Thr) n.247-5407G>A n.247+7761G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46756426G>C | CA406496395 | FKRP | c.976G>C (p.Ala326Pro) n.247-5407G>C n.247+7761G>C | |
19 | g.46756426G= | CA2339067591 | FKRP | c.976G= (p.Ala326=) n.247-5407G= n.247+7761G= | |
19 | g.46756426G>T | CA406496396 | FKRP | c.976G>T (p.Ala326Ser) n.247-5407G>T n.247+7761G>T | ClinVar dbSNP gnomAD v4 |
19 | g.46756426_46756432del | CA996422834 | FKRP | c.976_982del (p.Ala326MetfsTer?) n.247-5407_247-5401del n.247+7761_247+7767del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.46756427_46756435del | CA882830305 | FKRP | c.977_985del (p.Ala326_Tyr328del) n.247-5406_247-5398del n.247+7762_247+7770del | dbSNP |
19 | g.46756427C>A | CA406496397 | FKRP | c.977C>A (p.Ala326Asp) n.247-5406C>A n.247+7762C>A | gnomAD v4 |
19 | g.46756427C>G | CA406496398 | FKRP | c.977C>G (p.Ala326Gly) n.247-5406C>G n.247+7762C>G | |
19 | g.46756427C>T | CA406496399 | FKRP | c.977C>T (p.Ala326Val) n.247-5406C>T n.247+7762C>T | gnomAD v4 |
19 | g.46756429dup | CA2499225526 | FKRP | c.979dup (p.Arg327ProfsTer?) n.247-5404dup n.247+7764dup | ClinVar dbSNP |
19 | g.46756428C>A | CA507975585 | FKRP | c.978C>A (p.Ala326=) n.247-5405C>A n.247+7763C>A | ClinVar |
19 | g.46756428C= | CA2339067593 | FKRP | c.978C= (p.Ala326=) n.247-5405C= n.247+7763C= | |
19 | g.46756428C>G | CA507975587 | FKRP | c.978C>G (p.Ala326=) n.247-5405C>G n.247+7763C>G | |
19 | g.46756428C>T | CA507975588 | FKRP | c.978C>T (p.Ala326=) n.247-5405C>T n.247+7763C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.46756429C>A | CA309099660 | FKRP | c.979C>A (p.Arg327Ser) n.247-5404C>A n.247+7764C>A | dbSNP gnomAD v4 |
19 | g.46756429C= | CA2339067597 | FKRP | c.979C= (p.Arg327=) n.247-5404C= n.247+7764C= | |
19 | g.46756429C>G | CA406496400 | FKRP | c.979C>G (p.Arg327Gly) n.247-5404C>G n.247+7764C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.46756429C>T | CA406496401 | FKRP | c.979C>T (p.Arg327Cys) n.247-5404C>T n.247+7764C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.46756430G>A | CA9532220 | FKRP | c.980G>A (p.Arg327His) n.247-5403G>A n.247+7765G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46756430G>C | CA406496403 | FKRP | c.980G>C (p.Arg327Pro) n.247-5403G>C n.247+7765G>C | |
19 | g.46756430G= | CA2339067599 | FKRP | c.980G= (p.Arg327=) n.247-5403G= n.247+7765G= | |
19 | g.46756430G>T | CA406496402 | FKRP | c.980G>T (p.Arg327Leu) n.247-5403G>T n.247+7765G>T | gnomAD v4 |
19 | g.46756431C>A | CA507975597 | FKRP | c.981C>A (p.Arg327=) n.247-5402C>A n.247+7766C>A | gnomAD v4 |
19 | g.46756431C>G | CA507975596 | FKRP | c.981C>G (p.Arg327=) n.247-5402C>G n.247+7766C>G | |
19 | g.46756431C>T | CA507975595 | FKRP | c.981C>T (p.Arg327=) n.247-5402C>T n.247+7766C>T | ClinVar dbSNP gnomAD v4 |
19 | g.46756431_46756434delinsCTAT | CA2339067600 | FKRP | c.981_984delinsCTAT (p.Arg327=) n.247-5402_247-5399delinsCTAT n.247+7766_247+7769delinsCTAT |