| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42536415_42536417del | CA2637965802 | NAGLU | c.143_145del (p.Phe48del) | gnomAD v4 |
| 17 | g.42536414T>A | CA399595401 | NAGLU | c.142T>A (p.Phe48Ile) | |
| 17 | g.42536414T>C | CA115052 | NAGLU | c.142T>C (p.Phe48Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536414T>G | CA399595404 | NAGLU | c.142T>G (p.Phe48Val) | |
| 17 | g.42536414T= | CA2260526733 | NAGLU | c.142T= (p.Phe48=) | |
| 17 | g.42536415T>A | CA399595405 | NAGLU | c.143T>A (p.Phe48Tyr) | |
| 17 | g.42536415T>C | CA399595406 | NAGLU | c.143T>C (p.Phe48Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42536415T>G | CA290771264 | NAGLU | c.143T>G (p.Phe48Cys) | dbSNP gnomAD v4 |
| 17 | g.42536415T= | CA2260526734 | NAGLU | c.143T= (p.Phe48=) | |
| 17 | g.42536415_42536418delinsTCTC | CA2260526735 | NAGLU | c.143_146delinsTCTC (p.Phe48=) | |
| 17 | g.42536416C>A | CA290771267 | NAGLU | c.144C>A (p.Phe48Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536416C= | CA2260526736 | NAGLU | c.144C= (p.Phe48=) | |
| 17 | g.42536416C>G | CA399595410 | NAGLU | c.144C>G (p.Phe48Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536416C>T | CA500215951 | NAGLU | c.144C>T (p.Phe48=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536417_42536419del | CA983827601 | NAGLU | c.145_147del (p.Ser49del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536417T>A | CA399595414 | NAGLU | c.145T>A (p.Ser49Thr) | |
| 17 | g.42536417T>C | CA399595412 | NAGLU | c.145T>C (p.Ser49Pro) | gnomAD v4 |
| 17 | g.42536417T>G | CA290771270 | NAGLU | c.145T>G (p.Ser49Ala) | dbSNP |
| 17 | g.42536417T= | CA2260526737 | NAGLU | c.145T= (p.Ser49=) | |
| 17 | g.42536418C>A | CA399595416 | NAGLU | c.146C>A (p.Ser49Tyr) | gnomAD v4 |
| 17 | g.42536418C= | CA2260526738 | NAGLU | c.146C= (p.Ser49=) | |
| 17 | g.42536418C>G | CA399595418 | NAGLU | c.146C>G (p.Ser49Cys) | gnomAD v4 |
| 17 | g.42536418C>T | CA290771275 | NAGLU | c.146C>T (p.Ser49Phe) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536419del | CA2580093754 | NAGLU | c.147del (p.Val50CysfsTer?) | ClinVar |
| 17 | g.42536419C>A | CA500215957 | NAGLU | c.147C>A (p.Ser49=) | gnomAD v4 |
| 17 | g.42536419C= | CA2260526739 | NAGLU | c.147C= (p.Ser49=) | |
| 17 | g.42536419C>G | CA500215960 | NAGLU | c.147C>G (p.Ser49=) | ClinVar dbSNP |
| 17 | g.42536419C>T | CA500215964 | NAGLU | c.147C>T (p.Ser49=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536420G>A | CA399595421 | NAGLU | c.148G>A (p.Val50Met) | gnomAD v4 |
| 17 | g.42536420G>C | CA399595423 | NAGLU | c.148G>C (p.Val50Leu) | ClinVar gnomAD v4 |
| 17 | g.42536420G>T | CA399595425 | NAGLU | c.148G>T (p.Val50Leu) | gnomAD v4 |
| 17 | g.42536421T>A | CA399595428 | NAGLU | c.149T>A (p.Val50Glu) | |
| 17 | g.42536421T>C | CA399595430 | NAGLU | c.149T>C (p.Val50Ala) | gnomAD v4 |
| 17 | g.42536421T>G | CA399595431 | NAGLU | c.149T>G (p.Val50Gly) | |
| 17 | g.42536422G>A | CA500215969 | NAGLU | c.150G>A (p.Val50=) | gnomAD v4 |
| 17 | g.42536422G>C | CA500215971 | NAGLU | c.150G>C (p.Val50=) | dbSNP |
| 17 | g.42536422G= | CA2260526740 | NAGLU | c.150G= (p.Val50=) | |
| 17 | g.42536422G>T | CA500215970 | NAGLU | c.150G>T (p.Val50=) | gnomAD v4 |
| 17 | g.42536423T>A | CA399595434 | NAGLU | c.151T>A (p.Ser51Thr) | |
| 17 | g.42536423T>C | CA290771280 | NAGLU | c.151T>C (p.Ser51Pro) | dbSNP gnomAD v4 |
| 17 | g.42536423T>G | CA399595436 | NAGLU | c.151T>G (p.Ser51Ala) | |
| 17 | g.42536423T= | CA2260526741 | NAGLU | c.151T= (p.Ser51=) | |
| 17 | g.42536424C>A | CA399595439 | NAGLU | c.152C>A (p.Ser51Ter) | gnomAD v4 |
| 17 | g.42536424C= | CA2260526742 | NAGLU | c.152C= (p.Ser51=) | |
| 17 | g.42536424C>G | CA399595442 | NAGLU | c.152C>G (p.Ser51Trp) | |
| 17 | g.42536424C>T | CA399595440 | NAGLU | c.152C>T (p.Ser51Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42536425G>A | CA500215982 | NAGLU | c.153G>A (p.Ser51=) | gnomAD v4 |
| 17 | g.42536425G>C | CA500215980 | NAGLU | c.153G>C (p.Ser51=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536425G>T | CA500215981 | NAGLU | c.153G>T (p.Ser51=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536426G>A | CA238574 | NAGLU | c.154G>A (p.Val52Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |