Table 5 Results found for patients remaining un-diagnosed
PC | IS | Gene | Ref sec | Coding variants* | dbSNP ID | MAF | Zig | MD | BA | |
|---|---|---|---|---|---|---|---|---|---|---|
P27 | High | MANBA | NM_005908 | c.1922G > A | p.R641H | -- | HT | + | NegΨ | |
P28 | High | HYAL1 | NM_033159 | c.676C > T | p.R226C | -- | HT | - | NCI | |
HEXB | NM_000521 | c.383 T > G | p.L128R | -- | HT | - | NegΨ | |||
P29 | High | SMPD1 | NM_000543 | c.1460C > T | p.A487V | -- | HT | + | NegΨ | |
P30 | Low | NEU1 | NM_000434 | c.1070G > A | p.R357Q | -- | HT | - | NCI | |
P31 | Mod | MFSD8 | NM_152778 | c.50C > G | p.T17R | -- | HT | - | NCI | |
P32 | Low | NAGA | NM_000262 | c.697G > A | p.V233M | -- | HT | - | NCI | |
NPC1 | NM_000271 | c.665A > G | p.N222S | rs1805081 | 0.001 | HT | + | NCI | ||
P33 | Low | SMPD1 | NM_000543 | c.1550A > T | p.E517V | -- | HT | + | NCI | |
P34 | High | SGSH | NM_000199 | c.308A > G | p.K103R | -- | HT | - | NCI | |
CLN6 | NM_017882 | c.755G > C | p.R252P | -- | HT | - | NCI | |||
P35 | Low | TPP1 | NM_000391 | c.1117C > G | p.Q373E | -- | HT | - | NCI | |
GAA | NM_000152 | c.1367G > T | p.R456M | -- | HT | - | NCI | |||
P36 | High | CLN5 | NM_006493 | c.606G > A | p.M202I | -- | HT | - | NCI | |
P37 | High | SMPD1 | NM_000543 | c.8G > A | p.R3H | -- | HT | - | NCI | |
P38 | Low | IDUA | NM_000203 | c.251G > C | p.G84A | -- | HT | - | NCI | |
P39 | Low | IDS | NM_000202 | c.754G > A | p.D252N | -- | HO | + | Neg* | |
P40 | Low | CLN3 | NM_000086 | c.995C > T | p.A332V | -- | HT | - | NA | |
P41 | High | CLN5 | NM_006493 | c.726C > A | p.N242K | -- | HT | - | NA | |
P42 | High | IDUA | NM_000203 | c.650G > A | p.R217Q | -- | HT | - | NCI | |
NPC1 | NM_000271 | c.2257G > A | p.V753M | -- | HT | - | NCI | |||
P43 | Mod | ASAH1 | NM_177924 | c.2 T > C | p.M1T | -- | HT | - | NCI | |
P44 | Low | SMPD1 | NM_000543 | c.1460C > T | p.A487V | -- | HT | + | NCI | |
P45 | Low | CLN3 | NM_000086 | c.995C > T | p.A332V | -- | HT | - | NA | |
P46 | Low | CLN5 | NM_006493 | c.606G > A | p.M202I | -- | HT | - | NA | |
GALNS | NM_000512 | c.1127G > A | p.R376Q | -- | HT | + | NCI | |||
P47 | Low | GNPTG | NM_032520 | c.857C > T | p.T286M | -- | HT | + | NCI | |
NPC1 | NM_000271 | c.3535A > G | p.M1179V | rs61731969 | 0.002 | HT | - | NCI | ||
P48 | Low | MAN2B1 | NM_000528 | c.844C > T | p.P282S | rs45576136 | 0.003 | HT | - | NCI |