| 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.46756620_46756621del | CA9532263 | FKRP | c.1170_1171del (p.Gly391LeufsTer?) n.247-5213_247-5212del n.247+7955_247+7956del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756618_46756627dup | CA2585987500 | FKRP | c.1168_1177dup (p.Val393AlafsTer?) n.247-5215_247-5206dup n.247+7953_247+7962dup | gnomAD v4 |
| 19 | g.46756620C>A | CA507976211 | FKRP | c.1170C>A (p.Arg390=) n.247-5213C>A n.247+7955C>A | |
| 19 | g.46756620C= | CA2339067722 | FKRP | c.1170C= (p.Arg390=) n.247-5213C= n.247+7955C= | |
| 19 | g.46756620C>G | CA507976212 | FKRP | c.1170C>G (p.Arg390=) n.247-5213C>G n.247+7955C>G | |
| 19 | g.46756620C>T | CA507976213 | FKRP | c.1170C>T (p.Arg390=) n.247-5213C>T n.247+7955C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756621G>A | CA9532266 | FKRP | c.1171G>A (p.Gly391Ser) n.247-5212G>A n.247+7956G>A | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.46756621G>C | CA9532265 | FKRP | c.1171G>C (p.Gly391Arg) n.247-5212G>C n.247+7956G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756621G= | CA2339067723 | FKRP | c.1171G= (p.Gly391=) n.247-5212G= n.247+7956G= | |
| 19 | g.46756621G>T | CA406496788 | FKRP | c.1171G>T (p.Gly391Cys) n.247-5212G>T n.247+7956G>T | gnomAD v4 |
| 19 | g.46756622G>A | CA406496791 | FKRP | c.1172G>A (p.Gly391Asp) n.247-5211G>A n.247+7957G>A | |
| 19 | g.46756622G>C | CA406496790 | FKRP | c.1172G>C (p.Gly391Ala) n.247-5211G>C n.247+7957G>C | gnomAD v4 |
| 19 | g.46756622G= | CA2339067724 | FKRP | c.1172G= (p.Gly391=) n.247-5211G= n.247+7957G= | |
| 19 | g.46756622G>T | CA406496789 | FKRP | c.1172G>T (p.Gly391Val) n.247-5211G>T n.247+7957G>T | gnomAD v4 |
| 19 | g.46756623C>A | CA507976214 | FKRP | c.1173C>A (p.Gly391=) n.247-5210C>A n.247+7958C>A | |
| 19 | g.46756623C= | CA2339067725 | FKRP | c.1173C= (p.Gly391=) n.247-5210C= n.247+7958C= | |
| 19 | g.46756623C>G | CA507976215 | FKRP | c.1173C>G (p.Gly391=) n.247-5210C>G n.247+7958C>G | |
| 19 | g.46756623C>T | CA507976216 | FKRP | c.1173C>T (p.Gly391=) n.247-5210C>T n.247+7958C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756623_46756624dup | CA406496792 | FKRP | c.1173_1174dup (p.Phe392SerfsTer?) n.247-5210_247-5209dup n.247+7958_247+7959dup | dbSNP |
| 19 | g.46756624T>A | CA406496793 | FKRP | c.1174T>A (p.Phe392Ile) n.247-5209T>A n.247+7959T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756624T>C | CA406496794 | FKRP | c.1174T>C (p.Phe392Leu) n.247-5209T>C n.247+7959T>C | |
| 19 | g.46756624T>G | CA406496795 | FKRP | c.1174T>G (p.Phe392Val) n.247-5209T>G n.247+7959T>G | |
| 19 | g.46756624T= | CA2339067726 | FKRP | c.1174T= (p.Phe392=) n.247-5209T= n.247+7959T= | |
| 19 | g.46756625T>A | CA406496796 | FKRP | c.1175T>A (p.Phe392Tyr) n.247-5208T>A n.247+7960T>A | |
| 19 | g.46756625T>C | CA406496797 | FKRP | c.1175T>C (p.Phe392Ser) n.247-5208T>C n.247+7960T>C | |
| 19 | g.46756625T>G | CA406496798 | FKRP | c.1175T>G (p.Phe392Cys) n.247-5208T>G n.247+7960T>G | |
| 19 | g.46756626C>A | CA406496799 | FKRP | c.1176C>A (p.Phe392Leu) n.247-5207C>A n.247+7961C>A | |
| 19 | g.46756626C= | CA2339067727 | FKRP | c.1176C= (p.Phe392=) n.247-5207C= n.247+7961C= | |
| 19 | g.46756626C>G | CA406496800 | FKRP | c.1176C>G (p.Phe392Leu) n.247-5207C>G n.247+7961C>G | gnomAD v4 |
| 19 | g.46756626C>T | CA9532267 | FKRP | c.1176C>T (p.Phe392=) n.247-5207C>T n.247+7961C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.46756627G>A | CA205982 | FKRP | c.1177G>A (p.Val393Ile) n.247-5206G>A n.247+7962G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756627G>C | CA9532268 | FKRP | c.1177G>C (p.Val393Leu) n.247-5206G>C n.247+7962G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756627G= | CA2339067728 | FKRP | c.1177G= (p.Val393=) n.247-5206G= n.247+7962G= | |
| 19 | g.46756627G>T | CA9532269 | FKRP | c.1177G>T (p.Val393Leu) n.247-5206G>T n.247+7962G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756628T>A | CA406496802 | FKRP | c.1178T>A (p.Val393Glu) n.247-5205T>A n.247+7963T>A | gnomAD v4 |
| 19 | g.46756628T>C | CA406496803 | FKRP | c.1178T>C (p.Val393Ala) n.247-5205T>C n.247+7963T>C | |
| 19 | g.46756628T>G | CA406496801 | FKRP | c.1178T>G (p.Val393Gly) n.247-5205T>G n.247+7963T>G | |
| 19 | g.46756629A= | CA2339067729 | FKRP | c.1179A= (p.Val393=) n.247-5204A= n.247+7964A= | |
| 19 | g.46756629A>C | CA507976224 | FKRP | c.1179A>C (p.Val393=) n.247-5204A>C n.247+7964A>C | |
| 19 | g.46756629A>G | CA202832 | FKRP | c.1179A>G (p.Val393=) n.247-5204A>G n.247+7964A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756629A>T | CA507976223 | FKRP | c.1179A>T (p.Val393=) n.247-5204A>T n.247+7964A>T | |
| 19 | g.46756630T>A | CA406496804 | FKRP | c.1180T>A (p.Trp394Arg) n.247-5203T>A n.247+7965T>A | |
| 19 | g.46756630T>C | CA406496805 | FKRP | c.1180T>C (p.Trp394Arg) n.247-5203T>C n.247+7965T>C | |
| 19 | g.46756630T>G | CA406496806 | FKRP | c.1180T>G (p.Trp394Gly) n.247-5203T>G n.247+7965T>G | |
| 19 | g.46756631G>A | CA406496807 | FKRP | c.1181G>A (p.Trp394Ter) n.247-5202G>A n.247+7966G>A | |
| 19 | g.46756631G>C | CA406496808 | FKRP | c.1181G>C (p.Trp394Ser) n.247-5202G>C n.247+7966G>C | |
| 19 | g.46756631G>T | CA406496809 | FKRP | c.1181G>T (p.Trp394Leu) n.247-5202G>T n.247+7966G>T | ClinVar |
| 19 | g.46756632G>A | CA406496810 | FKRP | c.1182G>A (p.Trp394Ter) n.247-5201G>A n.247+7967G>A |