Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42536417_42536419del | CA983827601 | NAGLU | c.145_147del (p.Ser49del) | ClinVar dbSNP gnomAD v3 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 |
17 | g.42536426G>C | CA399595446 | NAGLU | c.154G>C (p.Val52Leu) | gnomAD v4 |
17 | g.42536426G= | CA2260526743 | NAGLU | c.154G= (p.Val52=) | |
17 | g.42536426G>T | CA399595445 | NAGLU | c.154G>T (p.Val52Leu) | gnomAD v4 |
17 | g.42536427T>A | CA399595449 | NAGLU | c.155T>A (p.Val52Glu) | gnomAD v4 |
17 | g.42536427T>C | CA399595451 | NAGLU | c.155T>C (p.Val52Ala) | gnomAD v4 |
17 | g.42536427T>G | CA399595452 | NAGLU | c.155T>G (p.Val52Gly) | |
17 | g.42536428G>A | CA500215987 | NAGLU | c.156G>A (p.Val52=) | gnomAD v4 |
17 | g.42536428G>C | CA500215988 | NAGLU | c.156G>C (p.Val52=) | gnomAD v4 |
17 | g.42536428G= | CA2260526744 | NAGLU | c.156G= (p.Val52=) | |
17 | g.42536428G>T | CA500215986 | NAGLU | c.156G>T (p.Val52=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536429G>A | CA399595454 | NAGLU | c.157G>A (p.Glu53Lys) | gnomAD v4 |
17 | g.42536429G>C | CA399595456 | NAGLU | c.157G>C (p.Glu53Gln) | gnomAD v4 |
17 | g.42536429G>T | CA399595458 | NAGLU | c.157G>T (p.Glu53Ter) | gnomAD v4 |
17 | g.42536430A>C | CA399595459 | NAGLU | c.158A>C (p.Glu53Ala) | gnomAD v4 |
17 | g.42536430A>G | CA399595461 | NAGLU | c.158A>G (p.Glu53Gly) | gnomAD v4 |
17 | g.42536430A>T | CA399595462 | NAGLU | c.158A>T (p.Glu53Val) | gnomAD v4 |
17 | g.42536431G>A | CA290771298 | NAGLU | c.159G>A (p.Glu53=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536431G>C | CA399595464 | NAGLU | c.159G>C (p.Glu53Asp) | |
17 | g.42536431G= | CA2260526745 | NAGLU | c.159G= (p.Glu53=) | |
17 | g.42536431G>T | CA399595466 | NAGLU | c.159G>T (p.Glu53Asp) | gnomAD v4 |
17 | g.42536432C>A | CA399595472 | NAGLU | c.160C>A (p.Arg54Ser) | gnomAD v4 |
17 | g.42536432C>G | CA399595468 | NAGLU | c.160C>G (p.Arg54Gly) | gnomAD v4 |