| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756403G>A | CA116726 | FKRP | c.953G>A (p.Cys318Tyr) n.247-5430G>A n.247+7738G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756403G>C | CA406496351 | FKRP | c.953G>C (p.Cys318Ser) n.247-5430G>C n.247+7738G>C | |
| 19 | g.46756403G= | CA2339067551 | FKRP | c.953G= (p.Cys318=) n.247-5430G= n.247+7738G= | |
| 19 | g.46756403G>T | CA406496352 | FKRP | c.953G>T (p.Cys318Phe) n.247-5430G>T n.247+7738G>T | gnomAD v4 |
| 19 | g.46756404C>A | CA406496353 | FKRP | c.954C>A (p.Cys318Ter) n.247-5429C>A n.247+7739C>A | |
| 19 | g.46756404C= | CA2339067553 | FKRP | c.954C= (p.Cys318=) n.247-5429C= n.247+7739C= | |
| 19 | g.46756404C>G | CA406496354 | FKRP | c.954C>G (p.Cys318Trp) n.247-5429C>G n.247+7739C>G | |
| 19 | g.46756404C>T | CA245440 | FKRP | c.954C>T (p.Cys318=) n.247-5429C>T n.247+7739C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756405C>A | CA406496355 | FKRP | c.955C>A (p.Leu319Met) n.247-5428C>A n.247+7740C>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756405C= | CA2339067558 | FKRP | c.955C= (p.Leu319=) n.247-5428C= n.247+7740C= | |
| 19 | g.46756405C>G | CA406496356 | FKRP | c.955C>G (p.Leu319Val) n.247-5428C>G n.247+7740C>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756405C>T | CA9532216 | FKRP | c.955C>T (p.Leu319=) n.247-5428C>T n.247+7740C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756406_46756408del | CA913018613 | FKRP | c.956_958del (p.Leu319del) n.247-5427_247-5425del n.247+7741_247+7743del | |
| 19 | g.46756412_46756420dup | CA10606597 | FKRP | c.962_970dup (p.Arg323_Glu324insAlaLeuArg) n.247-5421_247-5413dup n.247+7747_247+7755dup | ClinVar dbSNP |
| 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.46756406T>A | CA406496357 | FKRP | c.956T>A (p.Leu319Gln) n.247-5427T>A n.247+7741T>A | |
| 19 | g.46756406T>C | CA406496358 | FKRP | c.956T>C (p.Leu319Pro) n.247-5427T>C n.247+7741T>C | dbSNP gnomAD v4 |
| 19 | g.46756406T>G | CA406496359 | FKRP | c.956T>G (p.Leu319Arg) n.247-5427T>G n.247+7741T>G | |
| 19 | g.46756406T= | CA2339067563 | FKRP | c.956T= (p.Leu319=) n.247-5427T= n.247+7741T= | |
| 19 | g.46756406_46756408delinsTGC | CA2339067561 | FKRP | c.956_958delinsTGC (p.Leu319=) n.247-5427_247-5425delinsTGC n.247+7741_247+7743delinsTGC | |
| 19 | g.46756406_46756417delinsTGCGCGCGCTGC | CA2339067562 | FKRP | c.956_967delinsTGCGCGCGCTGC (p.Leu319=) n.247-5427_247-5416delinsTGCGCGCGCTGC n.247+7741_247+7752delinsTGCGCGCGCTGC | |
| 19 | g.46756406_46756452delinsTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAG | CA2339067560 | FKRP | c.956_1002delinsTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAG (p.Leu319=) n.247-5427_247-5381delinsTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAG n.247+7741_247+7787delinsTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAG | |
| 19 | g.46756407G>A | CA507975534 | FKRP | c.957G>A (p.Leu319=) n.247-5426G>A n.247+7742G>A | dbSNP gnomAD v4 |
| 19 | g.46756407G>C | CA507975535 | FKRP | c.957G>C (p.Leu319=) n.247-5426G>C n.247+7742G>C | |
| 19 | g.46756407G= | CA2339067567 | FKRP | c.957G= (p.Leu319=) n.247-5426G= n.247+7742G= | |
| 19 | g.46756407G>T | CA507975536 | FKRP | c.957G>T (p.Leu319=) n.247-5426G>T n.247+7742G>T | gnomAD v4 |
| 19 | g.46756407_46756408delinsAA | CA658658824 | FKRP | c.957_958delinsAA (p.Arg320Ser) n.247-5426_247-5425delinsAA n.247+7742_247+7743delinsAA | ClinVar dbSNP |
| 19 | g.46756407_46756408delinsGC | CA2339067568 | FKRP | c.957_958delinsGC (p.Leu319=) n.247-5426_247-5425delinsGC n.247+7742_247+7743delinsGC | |
| 19 | g.46756413_46756414del | CA658823848 | FKRP | c.963_964del (p.Leu322AlafsTer?) n.247-5420_247-5419del n.247+7748_247+7749del | dbSNP |
| 19 | g.46756410_46756420del | CA915951959 | FKRP | c.960_970del (p.Ala321AspfsTer?) n.247-5423_247-5413del n.247+7745_247+7755del | ClinVar dbSNP |
| 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.46756408C>A | CA406496360 | FKRP | c.958C>A (p.Arg320Ser) n.247-5425C>A n.247+7743C>A | gnomAD v4 |
| 19 | g.46756408C>G | CA406496361 | FKRP | c.958C>G (p.Arg320Gly) n.247-5425C>G n.247+7743C>G | gnomAD v4 |
| 19 | g.46756408C>T | CA406496362 | FKRP | c.958C>T (p.Arg320Cys) n.247-5425C>T n.247+7743C>T | ClinVar gnomAD v4 |
| 19 | g.46756409G>A | CA406496363 | FKRP | c.959G>A (p.Arg320His) n.247-5424G>A n.247+7744G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756409G>C | CA406496364 | FKRP | c.959G>C (p.Arg320Pro) n.247-5424G>C n.247+7744G>C | |
| 19 | g.46756409G= | CA2339067569 | FKRP | c.959G= (p.Arg320=) n.247-5424G= n.247+7744G= | |
| 19 | g.46756409G>T | CA406496365 | FKRP | c.959G>T (p.Arg320Leu) n.247-5424G>T n.247+7744G>T | gnomAD v4 |
| 19 | g.46756410C>A | CA507975546 | FKRP | c.960C>A (p.Arg320=) n.247-5423C>A n.247+7745C>A | gnomAD v4 |
| 19 | g.46756410C= | CA2339067570 | FKRP | c.960C= (p.Arg320=) n.247-5423C= n.247+7745C= | |
| 19 | g.46756410C>G | CA507975544 | FKRP | c.960C>G (p.Arg320=) n.247-5423C>G n.247+7745C>G | dbSNP |
| 19 | g.46756410C>T | CA507975548 | FKRP | c.960C>T (p.Arg320=) n.247-5423C>T n.247+7745C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756411G>A | CA406496366 | FKRP | c.961G>A (p.Ala321Thr) n.247-5422G>A n.247+7746G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756411G>C | CA406496367 | FKRP | c.961G>C (p.Ala321Pro) n.247-5422G>C n.247+7746G>C | |
| 19 | g.46756411G= | CA2339067571 | FKRP | c.961G= (p.Ala321=) n.247-5422G= n.247+7746G= | |
| 19 | g.46756411G>T | CA406496368 | FKRP | c.961G>T (p.Ala321Ser) n.247-5422G>T n.247+7746G>T | gnomAD v4 |
| 19 | g.46756412C>A | CA9532217 | FKRP | c.962C>A (p.Ala321Glu) n.247-5421C>A n.247+7747C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756412C= | CA2339067572 | FKRP | c.962C= (p.Ala321=) n.247-5421C= n.247+7747C= | |
| 19 | g.46756412C>G | CA406496369 | FKRP | c.962C>G (p.Ala321Gly) n.247-5421C>G n.247+7747C>G | |
| 19 | g.46756412C>T | CA406496370 | FKRP | c.962C>T (p.Ala321Val) n.247-5421C>T n.247+7747C>T | gnomAD v4 COSMIC |