Gene | dbSNP ID | Sequence changes | Type | ClinVar | MAF | Pathogenicity | Patients ID | Reference | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
cDNA | AA | P/B | CADD | VEST | SIFT | PolyPhen | GERP++ | |||||||
AIRE | rs72650677 | c.1322 C > T | T441M | Missense | VUS | < 0.01 | 6/21 | 12 | 0.73 | 0.02 | 0.24 | 0.63 | P08 | [22] |
DACH2 | rs147377892 | c.107 C > T | P36L | Missense | - | < 0.01 | 11/12 | 21 | 0.10 | 0 | 0.02 | 4.49 | P03 | [23] |
DACH2 | rs148179765 | c.1245G > C | E415D | Missense | - | < 0.01 | 7/16 | 16 | 0.08 | 0.3 | 0.08 | 1.81 | P14 | * |
EIF2B4 | rs41288827 | c.*1C > T | - | Splice site | B | 0.01 | 0/2 | 4 | - | - | - | -3.26 | P11, P12, P31, P40 | [16] |
FMR1 | rs139029212 | c.818 A > G | K273R | Missense | VUS | < 0.01 | 7/16 | 21 | 0.25 | 0.49 | 1 | 5.78 | P10 | [24] |
GALT | rs2070074 | c.940 A > G | N314D | Missense | VUS | 0.095 | 2/19 | 17 | 0.77 | 1 | 0 | 5.3 | P23, P26, P29, P31, P32, P44, P45, P48 | * |
HS6ST2 | rs181526961 | c.146 C > T | S49L | Missense | - | 0.01 | 4/6 | 24 | 0.34 | 0 | 0.92 | 3.65 | P37, P38, P39 | * |
NOBOX | rs139083352 | c.1849 C > T | H617Y | Missense | - | < 0.01 | 3/20 | 3 | 0.18 | 0.18 | 0.01 | 0.48 | P26 | * |
NOBOX | rs115882574 | c.1826 C > T | P609L | Missense | B/LB | < 0.01 | 9/15 | 20 | 0.23 | 0.06 | 0.59 | 3.56 | P24 | * |
NOBOX | rs373109638 | c.218 A > G | H73R | Missense | - | < 0.01 | 3/23 | 1 | 0.19 | 0.36 | 0 | -3.36 | P40 | * |