Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.46756451_46756620delinsAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGC | CA2339067617 | FKRP | c.1001_1170delinsAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGC (p.Glu334=) n.247-5382_247-5213delinsAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGC n.247+7786_247+7955delinsAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGC | |
19 | g.46756456_46756624del | CA915951961 | FKRP | c.1006_1174del (p.Ala336SerfsTer?) n.247-5377_247-5209del n.247+7791_247+7959del | ClinVar dbSNP |
19 | g.46756527_46756528dup | CA891844245 | FKRP | c.1077_1078dup (p.Asp360GlyfsTer?) n.247-5306_247-5305dup n.247+7862_247+7863dup | ClinVar dbSNP |
19 | g.46756527G>A | CA406496597 | FKRP | c.1077G>A (p.Trp359Ter) n.247-5306G>A n.247+7862G>A | dbSNP |
19 | g.46756527G>C | CA406496598 | FKRP | c.1077G>C (p.Trp359Cys) n.247-5306G>C n.247+7862G>C | |
19 | g.46756527G= | CA2339067672 | FKRP | c.1077G= (p.Trp359=) n.247-5306G= n.247+7862G= | |
19 | g.46756527G>T | CA406496599 | FKRP | c.1077G>T (p.Trp359Cys) n.247-5306G>T n.247+7862G>T | |
19 | g.46756528G>A | CA406496600 | FKRP | c.1078G>A (p.Asp360Asn) n.247-5305G>A n.247+7863G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46756528G>C | CA9532239 | FKRP | c.1078G>C (p.Asp360His) n.247-5305G>C n.247+7863G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46756528G= | CA2339067673 | FKRP | c.1078G= (p.Asp360=) n.247-5305G= n.247+7863G= | |
19 | g.46756528G>T | CA406496601 | FKRP | c.1078G>T (p.Asp360Tyr) n.247-5305G>T n.247+7863G>T | dbSNP |
19 | g.46756529A= | CA2339067674 | FKRP | c.1079A= (p.Asp360=) n.247-5304A= n.247+7864A= | |
19 | g.46756529A>C | CA406496602 | FKRP | c.1079A>C (p.Asp360Ala) n.247-5304A>C n.247+7864A>C | |
19 | g.46756529A>G | CA406496603 | FKRP | c.1079A>G (p.Asp360Gly) n.247-5304A>G n.247+7864A>G | |
19 | g.46756529A>T | CA9532240 | FKRP | c.1079A>T (p.Asp360Val) n.247-5304A>T n.247+7864A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46756530C>A | CA406496604 | FKRP | c.1080C>A (p.Asp360Glu) n.247-5303C>A n.247+7865C>A | gnomAD v4 |
19 | g.46756530C>G | CA406496605 | FKRP | c.1080C>G (p.Asp360Glu) n.247-5303C>G n.247+7865C>G | |
19 | g.46756530C>T | CA507975990 | FKRP | c.1080C>T (p.Asp360=) n.247-5303C>T n.247+7865C>T | |
19 | g.46756531T>A | CA406496606 | FKRP | c.1081T>A (p.Tyr361Asn) n.247-5302T>A n.247+7866T>A | |
19 | g.46756531T>C | CA406496607 | FKRP | c.1081T>C (p.Tyr361His) n.247-5302T>C n.247+7866T>C | |
19 | g.46756531T>G | CA406496608 | FKRP | c.1081T>G (p.Tyr361Asp) n.247-5302T>G n.247+7866T>G | |
19 | g.46756532A= | CA2339067675 | FKRP | c.1082A= (p.Tyr361=) n.247-5301A= n.247+7867A= | |
19 | g.46756532A>C | CA309099750 | FKRP | c.1082A>C (p.Tyr361Ser) n.247-5301A>C n.247+7867A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.46756532A>G | CA406496609 | FKRP | c.1082A>G (p.Tyr361Cys) n.247-5301A>G n.247+7867A>G | |
19 | g.46756532A>T | CA406496610 | FKRP | c.1082A>T (p.Tyr361Phe) n.247-5301A>T n.247+7867A>T | |
19 | g.46756533del | CA2576826108 | FKRP | c.1083del (p.Tyr361Ter) n.247-5300del n.247+7868del | |
19 | g.46756533C>A | CA16616286 | FKRP | c.1083C>A (p.Tyr361Ter) n.247-5300C>A n.247+7868C>A | ClinVar dbSNP |
19 | g.46756533C= | CA2339067676 | FKRP | c.1083C= (p.Tyr361=) n.247-5300C= n.247+7868C= | |
19 | g.46756533C>G | CA406496611 | FKRP | c.1083C>G (p.Tyr361Ter) n.247-5300C>G n.247+7868C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.46756533C>T | CA507975995 | FKRP | c.1083C>T (p.Tyr361=) n.247-5300C>T n.247+7868C>T | ClinVar dbSNP gnomAD v4 |
19 | g.46756534G>A | CA406496612 | FKRP | c.1084G>A (p.Asp362Asn) n.247-5299G>A n.247+7869G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46756534G>C | CA406496614 | FKRP | c.1084G>C (p.Asp362His) n.247-5299G>C n.247+7869G>C | dbSNP |
19 | g.46756534G= | CA2339067677 | FKRP | c.1084G= (p.Asp362=) n.247-5299G= n.247+7869G= | |
19 | g.46756534G>T | CA406496613 | FKRP | c.1084G>T (p.Asp362Tyr) n.247-5299G>T n.247+7869G>T | |
19 | g.46756535A>C | CA406496615 | FKRP | c.1085A>C (p.Asp362Ala) n.247-5298A>C n.247+7870A>C | |
19 | g.46756535A>G | CA406496616 | FKRP | c.1085A>G (p.Asp362Gly) n.247-5298A>G n.247+7870A>G | |
19 | g.46756535A>T | CA406496617 | FKRP | c.1085A>T (p.Asp362Val) n.247-5298A>T n.247+7870A>T | gnomAD v4 |
19 | g.46756536C>A | CA406496618 | FKRP | c.1086C>A (p.Asp362Glu) n.247-5297C>A n.247+7871C>A | ClinVar dbSNP |
19 | g.46756536C= | CA2339067678 | FKRP | c.1086C= (p.Asp362=) n.247-5297C= n.247+7871C= | |
19 | g.46756536C>G | CA406496619 | FKRP | c.1086C>G (p.Asp362Glu) n.247-5297C>G n.247+7871C>G | |
19 | g.46756536C>T | CA9532241 | FKRP | c.1086C>T (p.Asp362=) n.247-5297C>T n.247+7871C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.46756537G>A | CA406496620 | FKRP | c.1087G>A (p.Val363Met) n.247-5296G>A n.247+7872G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.46756537G>C | CA406496621 | FKRP | c.1087G>C (p.Val363Leu) n.247-5296G>C n.247+7872G>C | |
19 | g.46756537G= | CA2339067679 | FKRP | c.1087G= (p.Val363=) n.247-5296G= n.247+7872G= | |
19 | g.46756537G>T | CA10605077 | FKRP | c.1087G>T (p.Val363Leu) n.247-5296G>T n.247+7872G>T | ClinVar dbSNP gnomAD v4 |
19 | g.46756538T>A | CA406496622 | FKRP | c.1088T>A (p.Val363Glu) n.247-5295T>A n.247+7873T>A | |
19 | g.46756538T>C | CA406496623 | FKRP | c.1088T>C (p.Val363Ala) n.247-5295T>C n.247+7873T>C | ClinVar dbSNP gnomAD v4 |
19 | g.46756538T>G | CA406496624 | FKRP | c.1088T>G (p.Val363Gly) n.247-5295T>G n.247+7873T>G | gnomAD v4 |
19 | g.46756538T= | CA2339067680 | FKRP | c.1088T= (p.Val363=) n.247-5295T= n.247+7873T= | |
19 | g.46756539G>A | CA507976010 | FKRP | c.1089G>A (p.Val363=) n.247-5294G>A n.247+7874G>A | gnomAD v4 |