CC | GENE | REF_SEC | NT CHANGE | AA CHANGE | ZIG | MD | DIAGNOSIS | OMIM |
---|---|---|---|---|---|---|---|---|
C1 | ARSA | NM_000487 | c.1046delC | p.P349fs | HO | + | Metachromatic leukodystrophy | 250100 |
C2 | CLN3 | NM_000086 | c.461-280_677 + 382del966 | p.[Gly154Alafs*29, Val155_Gly264del] | HO | + | Ceroid lipofuscinosis, neuronal, 3 | 204200 |
C3 | FUCA1 | NM_000147 | c.464C > T | p.S155F | HT | - | Fucosidosis | 230000 |
FUCA1 | NM_000147 | c.790C > T | p.R264X | HT | - | |||
C4 | GALNS | NM_000512 | c.281G > T | p.R94L | HO | + | Mucopolysaccharidosis type IVA | 253000 |
C5 | GLB1 | NM_000404 | c.1581G > A | p.W527X | HO | + | GM1 gangliosidosis | 230500 |
C6 | GNPTAB | NM_024312 | c.1208 T > C | p.I403T | HT | + | Mucolipidosis III alpha/beta | 252600 |
GNPTAB | NM_024312 | c.1999G > T | p.E667X | HT | + | |||
C7 | GUSB | NM_000181 | c.526C > T | p.L176F | HT | + | Mucopolysaccharidosis VII | 253220 |
GUSB | NM_000181 | c.530C > T | p.T177I | HT | - | |||
C8 | NAGLU | NM_000263 | c.900C > T | p.R234C | HT | + | Sanfilippo B | 252920 |
C9 | NEU1 | NM_000434 | c.700G > A | p.D234N | HT | + | Sialidosis | 256550 |
NEU1 | NM_000434 | c.1021C > T | p.R341X | HT | + | |||
C10 | SGSH | NM_000199 | c.120C > G | p.Y40X | HO | + | Sanfilippo A | 252900 |
C11 | SMPD1 | NM_000543 | c.739G > A | p.G247S | HO | + | Niemann-Pick disease, type A | 257200 |
C12 | TPP1 | NM_000391 | c. 622C > T | p.R208X | HO | + | Ceroid lipofuscinosis, neuronal, 1 | 256730 |
C13 | CTSA | NM_000308 | c.448G > A | p.V150M | HT | - | Galactosialidosis | 256540 |
CTSA | NM_000308 | c.284delC | p.P95Lfs | HT | - | |||
C14 | NPC1 | NM_000271 | c.1552C > T | p.R518W | HT | + | Niemann-Pick disease, type C | 257220 |
C15 | NPC1 | NM_000271 | c.2594C > T | p.S865L | HT | + | Niemann-Pick disease, type C | 257220 |
C16 | SLC17A5 | NM_012434 | c.918 T > G | p.Y306X | HT | + | Sialic acid storage disorder,infantile | 269920 |
SLC17A5 | NM_012434 | c.500 T > C | p.L167P | HT | - | |||
C17 | ARSB | NM_000046 | c.427delG | p.V143Sfs | HO | + | Mucopolysaccharidosis VI | 253200 |
C18 | CLN3 | NM_000086 | c.461-280_677 + 382del966 | p.[Gly154Alafs*29, Val155_Gly264del] | HT | + | Ceroid lipofuscinosis, neuronal, 3 | 204200 |