| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42536314_42536316del | CA2576295330 | NAGLU | c.42_44del (p.Leu15del) | |
| 17 | g.42536314C>A | CA500215670 | NAGLU | c.42C>A (p.Leu14=) | |
| 17 | g.42536314C= | CA2260526687 | NAGLU | c.42C= (p.Leu14=) | |
| 17 | g.42536314C>G | CA500215672 | NAGLU | c.42C>G (p.Leu14=) | dbSNP gnomAD v4 |
| 17 | g.42536314C>T | CA500215671 | NAGLU | c.42C>T (p.Leu14=) | dbSNP gnomAD v4 |
| 17 | g.42536315C>A | CA399595042 | NAGLU | c.43C>A (p.Leu15Met) | gnomAD v4 |
| 17 | g.42536315C= | CA2260526688 | NAGLU | c.43C= (p.Leu15=) | |
| 17 | g.42536315C>G | CA399595044 | NAGLU | c.43C>G (p.Leu15Val) | |
| 17 | g.42536315C>T | CA500215675 | NAGLU | c.43C>T (p.Leu15=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536316T>A | CA399595047 | NAGLU | c.44T>A (p.Leu15Gln) | |
| 17 | g.42536316T>C | CA399595049 | NAGLU | c.44T>C (p.Leu15Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536316T>G | CA399595052 | NAGLU | c.44T>G (p.Leu15Arg) | |
| 17 | g.42536316T= | CA2260526689 | NAGLU | c.44T= (p.Leu15=) | |
| 17 | g.42536317G>A | CA500215682 | NAGLU | c.45G>A (p.Leu15=) | gnomAD v4 |
| 17 | g.42536317G>C | CA500215683 | NAGLU | c.45G>C (p.Leu15=) | |
| 17 | g.42536317G>T | CA500215684 | NAGLU | c.45G>T (p.Leu15=) | gnomAD v4 |
| 17 | g.42536318G>A | CA399595059 | NAGLU | c.46G>A (p.Ala16Thr) | gnomAD v4 |
| 17 | g.42536318G>C | CA399595057 | NAGLU | c.46G>C (p.Ala16Pro) | |
| 17 | g.42536318G>T | CA399595054 | NAGLU | c.46G>T (p.Ala16Ser) | gnomAD v4 |
| 17 | g.42536319C>A | CA399595062 | NAGLU | c.47C>A (p.Ala16Asp) | gnomAD v4 |
| 17 | g.42536319C= | CA2260526690 | NAGLU | c.47C= (p.Ala16=) | |
| 17 | g.42536319C>G | CA399595064 | NAGLU | c.47C>G (p.Ala16Gly) | |
| 17 | g.42536319C>T | CA8576698 | NAGLU | c.47C>T (p.Ala16Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536320C>A | CA500215688 | NAGLU | c.48C>A (p.Ala16=) | gnomAD v4 |
| 17 | g.42536320C= | CA2260526692 | NAGLU | c.48C= (p.Ala16=) | |
| 17 | g.42536320C>G | CA500215687 | NAGLU | c.48C>G (p.Ala16=) | |
| 17 | g.42536320C>T | CA500215686 | NAGLU | c.48C>T (p.Ala16=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536320_42536321delinsCG | CA2260526691 | NAGLU | c.48_49delinsCG (p.Ala16=) | |
| 17 | g.42536321G>A | CA399595068 | NAGLU | c.49G>A (p.Gly17Arg) | dbSNP gnomAD v4 |
| 17 | g.42536321G>C | CA399595070 | NAGLU | c.49G>C (p.Gly17Arg) | gnomAD v4 |
| 17 | g.42536321G= | CA2260526693 | NAGLU | c.49G= (p.Gly17=) | |
| 17 | g.42536321G>T | CA399595072 | NAGLU | c.49G>T (p.Gly17Trp) | gnomAD v4 |
| 17 | g.42536324del | CA626218514 | NAGLU | c.52del (p.Ala18ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42536326_42536332dup | CA2499224325 | NAGLU | c.54_60dup (p.Ala21ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536321_42536345dup | CA1139665538 | NAGLU | c.49_73dup (p.Glu25GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536322G>A | CA399595075 | NAGLU | c.50G>A (p.Gly17Glu) | gnomAD v4 |
| 17 | g.42536322G>C | CA399595078 | NAGLU | c.50G>C (p.Gly17Ala) | gnomAD v4 |
| 17 | g.42536322G= | CA2260526694 | NAGLU | c.50G= (p.Gly17=) | |
| 17 | g.42536322G>T | CA290771238 | NAGLU | c.50G>T (p.Gly17Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536323G>A | CA500215696 | NAGLU | c.51G>A (p.Gly17=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536323G>C | CA500215697 | NAGLU | c.51G>C (p.Gly17=) | |
| 17 | g.42536323G>T | CA500215699 | NAGLU | c.51G>T (p.Gly17=) | |
| 17 | g.42536324G>A | CA399595081 | NAGLU | c.52G>A (p.Ala18Thr) | gnomAD v4 |
| 17 | g.42536324G>C | CA399595083 | NAGLU | c.52G>C (p.Ala18Pro) | gnomAD v4 |
| 17 | g.42536324G>T | CA399595085 | NAGLU | c.52G>T (p.Ala18Ser) | gnomAD v4 |
| 17 | g.42536325C>A | CA399595087 | NAGLU | c.53C>A (p.Ala18Asp) | gnomAD v4 |
| 17 | g.42536325C>G | CA399595089 | NAGLU | c.53C>G (p.Ala18Gly) | |
| 17 | g.42536325C>T | CA399595092 | NAGLU | c.53C>T (p.Ala18Val) | gnomAD v4 |
| 17 | g.42536326C>A | CA500215704 | NAGLU | c.54C>A (p.Ala18=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536326C= | CA2260526695 | NAGLU | c.54C= (p.Ala18=) |