Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.46756306T>A | CA406496146 | FKRP | c.856T>A (p.Trp286Arg) n.247-5527T>A n.247+7641T>A | gnomAD v4 |
19 | g.46756306T>C | CA406496147 | FKRP | c.856T>C (p.Trp286Arg) n.247-5527T>C n.247+7641T>C | dbSNP gnomAD v4 |
19 | g.46756306T>G | CA406496148 | FKRP | c.856T>G (p.Trp286Gly) n.247-5527T>G n.247+7641T>G | |
19 | g.46756306T= | CA2339067443 | FKRP | c.856T= (p.Trp286=) n.247-5527T= n.247+7641T= | |
19 | g.46756307G>A | CA406496151 | FKRP | c.857G>A (p.Trp286Ter) n.247-5526G>A n.247+7642G>A | ClinVar gnomAD v4 |
19 | g.46756307G>C | CA406496149 | FKRP | c.857G>C (p.Trp286Ser) n.247-5526G>C n.247+7642G>C | |
19 | g.46756307G>T | CA406496150 | FKRP | c.857G>T (p.Trp286Leu) n.247-5526G>T n.247+7642G>T | gnomAD v4 |
19 | g.46756308G>A | CA406496152 | FKRP | c.858G>A (p.Trp286Ter) n.247-5525G>A n.247+7643G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.46756308G>C | CA406496153 | FKRP | c.858G>C (p.Trp286Cys) n.247-5525G>C n.247+7643G>C | |
19 | g.46756308G= | CA2339067445 | FKRP | c.858G= (p.Trp286=) n.247-5525G= n.247+7643G= | |
19 | g.46756308G>T | CA406496154 | FKRP | c.858G>T (p.Trp286Cys) n.247-5525G>T n.247+7643G>T | gnomAD v4 |
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.46756309T>A | CA406496155 | FKRP | c.859T>A (p.Phe287Ile) n.247-5524T>A n.247+7644T>A | gnomAD v4 |
19 | g.46756309T>C | CA406496156 | FKRP | c.859T>C (p.Phe287Leu) n.247-5524T>C n.247+7644T>C | ClinVar dbSNP gnomAD v4 |
19 | g.46756309T>G | CA406496157 | FKRP | c.859T>G (p.Phe287Val) n.247-5524T>G n.247+7644T>G | |
19 | g.46756309T= | CA2339067448 | FKRP | c.859T= (p.Phe287=) n.247-5524T= n.247+7644T= | |
19 | g.46756310del | CA2585987488 | FKRP | c.860del (p.Phe287SerfsTer?) n.247-5523del n.247+7645del | gnomAD v4 |
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.46756310T>A | CA406496158 | FKRP | c.860T>A (p.Phe287Tyr) n.247-5523T>A n.247+7645T>A | gnomAD v4 |
19 | g.46756310T>C | CA406496159 | FKRP | c.860T>C (p.Phe287Ser) n.247-5523T>C n.247+7645T>C | gnomAD v4 |
19 | g.46756310T>G | CA309099529 | FKRP | c.860T>G (p.Phe287Cys) n.247-5523T>G n.247+7645T>G | dbSNP |
19 | g.46756310T= | CA2339067449 | FKRP | c.860T= (p.Phe287=) n.247-5523T= n.247+7645T= | |
19 | g.46756311C>A | CA406496160 | FKRP | c.861C>A (p.Phe287Leu) n.247-5522C>A n.247+7646C>A | gnomAD v4 |
19 | g.46756311C= | CA2339067451 | FKRP | c.861C= (p.Phe287=) n.247-5522C= n.247+7646C= | |
19 | g.46756311C>G | CA406496161 | FKRP | c.861C>G (p.Phe287Leu) n.247-5522C>G n.247+7646C>G | |
19 | g.46756311C>T | CA507976294 | FKRP | c.861C>T (p.Phe287=) n.247-5522C>T n.247+7646C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.46756311_46756312insACTA | CA2339067454 | FKRP | c.861_862insACTA (p.Gly288ThrfsTer?) n.247-5522_247-5521insACTA n.247+7646_247+7647insACTA | 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 |