Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.46756308_46756319del | CA913018612 | FKRP | c.858_869del (p.Trp286_Asn290delinsCys) n.247-5525_247-5514del n.247+7643_247+7654del | |
19 | g.46756308_46756319delinsGTTCGGCTGCAA | CA2339067446 | FKRP | c.858_869delinsGTTCGGCTGCAA (p.Trp286=) n.247-5525_247-5514delinsGTTCGGCTGCAA n.247+7643_247+7654delinsGTTCGGCTGCAA | |
19 | g.46756309_46756319del | CA658825105 | FKRP | c.859_869del (p.Phe287GlnfsTer?) n.247-5524_247-5514del n.247+7644_247+7654del | ClinVar dbSNP |
19 | g.46756312G>A | CA406496163 | FKRP | c.862G>A (p.Gly288Ser) n.247-5521G>A n.247+7647G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46756312G>C | CA406496164 | FKRP | c.862G>C (p.Gly288Arg) n.247-5521G>C n.247+7647G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.46756312G= | CA2339067453 | FKRP | c.862G= (p.Gly288=) n.247-5521G= n.247+7647G= | |
19 | g.46756312G>T | CA406496162 | FKRP | c.862G>T (p.Gly288Cys) n.247-5521G>T n.247+7647G>T | gnomAD v4 |
19 | g.46756313G>A | CA406496167 | FKRP | c.863G>A (p.Gly288Asp) n.247-5520G>A n.247+7648G>A | gnomAD v4 |
19 | g.46756313G>C | CA406496165 | FKRP | c.863G>C (p.Gly288Ala) n.247-5520G>C n.247+7648G>C | gnomAD v4 |
19 | g.46756313G>T | CA406496166 | FKRP | c.863G>T (p.Gly288Val) n.247-5520G>T n.247+7648G>T | ClinVar gnomAD v4 |
19 | g.46756314C>A | CA507976297 | FKRP | c.864C>A (p.Gly288=) n.247-5519C>A n.247+7649C>A | gnomAD v4 |
19 | g.46756314C>G | CA507976299 | FKRP | c.864C>G (p.Gly288=) n.247-5519C>G n.247+7649C>G | |
19 | g.46756314C>T | CA507976296 | FKRP | c.864C>T (p.Gly288=) n.247-5519C>T n.247+7649C>T | gnomAD v4 |
19 | g.46756314_46756315insGTATCAT | CA2585987489 | FKRP | c.864_865insGTATCAT (p.Cys289ValfsTer?) n.247-5519_247-5518insGTATCAT n.247+7649_247+7650insGTATCAT | gnomAD v4 |
19 | g.46756315T>A | CA406496168 | FKRP | c.865T>A (p.Cys289Ser) n.247-5518T>A n.247+7650T>A | gnomAD v4 |
19 | g.46756315T>C | CA406496169 | FKRP | c.865T>C (p.Cys289Arg) n.247-5518T>C n.247+7650T>C | gnomAD v4 |
19 | g.46756315T>G | CA406496170 | FKRP | c.865T>G (p.Cys289Gly) n.247-5518T>G n.247+7650T>G | gnomAD v4 |
19 | g.46756316G>A | CA309099532 | FKRP | c.866G>A (p.Cys289Tyr) n.247-5517G>A n.247+7651G>A | dbSNP gnomAD v4 |
19 | g.46756316G>C | CA406496171 | FKRP | c.866G>C (p.Cys289Ser) n.247-5517G>C n.247+7651G>C | gnomAD v4 |
19 | g.46756316G= | CA2339067456 | FKRP | c.866G= (p.Cys289=) n.247-5517G= n.247+7651G= | |
19 | g.46756316G>T | CA406496172 | FKRP | c.866G>T (p.Cys289Phe) n.247-5517G>T n.247+7651G>T | gnomAD v4 |
19 | g.46756317C>A | CA406496173 | FKRP | c.867C>A (p.Cys289Ter) n.247-5516C>A n.247+7652C>A | gnomAD v4 |
19 | g.46756317C>G | CA406496174 | FKRP | c.867C>G (p.Cys289Trp) n.247-5516C>G n.247+7652C>G | |
19 | g.46756317C>T | CA507976303 | FKRP | c.867C>T (p.Cys289=) n.247-5516C>T n.247+7652C>T | ClinVar gnomAD v4 |
19 | g.46756318A>C | CA406496175 | FKRP | c.868A>C (p.Asn290His) n.247-5515A>C n.247+7653A>C | |
19 | g.46756318A>G | CA406496176 | FKRP | c.868A>G (p.Asn290Asp) n.247-5515A>G n.247+7653A>G | gnomAD v4 |
19 | g.46756318A>T | CA406496177 | FKRP | c.868A>T (p.Asn290Tyr) n.247-5515A>T n.247+7653A>T | |
19 | g.46756319A= | CA2339067457 | FKRP | c.869A= (p.Asn290=) n.247-5514A= n.247+7654A= | |
19 | g.46756319A>C | CA406496178 | FKRP | c.869A>C (p.Asn290Thr) n.247-5514A>C n.247+7654A>C | |
19 | g.46756319A>G | CA406496180 | FKRP | c.869A>G (p.Asn290Ser) n.247-5514A>G n.247+7654A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.46756319A>T | CA406496179 | FKRP | c.869A>T (p.Asn290Ile) n.247-5514A>T n.247+7654A>T | |
19 | g.46756320C>A | CA406496181 | FKRP | c.870C>A (p.Asn290Lys) n.247-5513C>A n.247+7655C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46756320C= | CA2339067459 | FKRP | c.870C= (p.Asn290=) n.247-5513C= n.247+7655C= | |
19 | g.46756320C>G | CA406496182 | FKRP | c.870C>G (p.Asn290Lys) n.247-5513C>G n.247+7655C>G | |
19 | g.46756320C>T | CA507976306 | FKRP | c.870C>T (p.Asn290=) n.247-5513C>T n.247+7655C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.46756321A>C | CA406496183 | FKRP | c.871A>C (p.Lys291Gln) n.247-5512A>C n.247+7656A>C | |
19 | g.46756321A>G | CA406496184 | FKRP | c.871A>G (p.Lys291Glu) n.247-5512A>G n.247+7656A>G | gnomAD v4 |
19 | g.46756321A>T | CA406496185 | FKRP | c.871A>T (p.Lys291Ter) n.247-5512A>T n.247+7656A>T | |
19 | g.46756322A>C | CA406496186 | FKRP | c.872A>C (p.Lys291Thr) n.247-5511A>C n.247+7657A>C | |
19 | g.46756322A>G | CA406496187 | FKRP | c.872A>G (p.Lys291Arg) n.247-5511A>G n.247+7657A>G | gnomAD v4 |
19 | g.46756322A>T | CA406496188 | FKRP | c.872A>T (p.Lys291Met) n.247-5511A>T n.247+7657A>T | |
19 | g.46756323G>A | CA507976309 | FKRP | c.873G>A (p.Lys291=) n.247-5510G>A n.247+7658G>A | dbSNP gnomAD v2 |
19 | g.46756323G>C | CA406496189 | FKRP | c.873G>C (p.Lys291Asn) n.247-5510G>C n.247+7658G>C | |
19 | g.46756323G= | CA2339067460 | FKRP | c.873G= (p.Lys291=) n.247-5510G= n.247+7658G= | |
19 | g.46756323G>T | CA406496190 | FKRP | c.873G>T (p.Lys291Asn) n.247-5510G>T n.247+7658G>T | gnomAD v4 |
19 | g.46756324del | CA2585987490 | FKRP | c.874del (p.Glu292ArgfsTer?) n.247-5509del n.247+7659del | gnomAD v4 |
19 | g.46756324G>A | CA406496192 | FKRP | c.874G>A (p.Glu292Lys) n.247-5509G>A n.247+7659G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.46756324G>C | CA406496193 | FKRP | c.874G>C (p.Glu292Gln) n.247-5509G>C n.247+7659G>C | |
19 | g.46756324G= | CA2339067461 | FKRP | c.874G= (p.Glu292=) n.247-5509G= n.247+7659G= | |
19 | g.46756324G>T | CA406496191 | FKRP | c.874G>T (p.Glu292Ter) n.247-5509G>T n.247+7659G>T | gnomAD v4 |