Table 5 55 pathogenic genetic variants were identified, along with their corresponding gene and chromosome locations
Genetic variants | Allele number(n) | Disease gene | Chromosomal location |
|---|---|---|---|
c.235delC | 4 | GJB2 | Chr13: 20763485–20763486 |
c.658_660delAAG | 3 | MMACHC | Chr1: 45974693–45974696 |
c.1031A > G | 2 | ACADS | Chr12: 121176944 |
c.1363A > G | 2 | OCA2 | Chr15: 28230211 |
c.1901T > C | 2 | GALC | Chr14: 88,406,259 |
c.299_300delAT | 2 | GJB2 | Chr13: 20763420–20763422 |
c.478G > C | 2 | SLC45A2 | Chr5: 33982425 |
c.609G > A | 2 | MMACHC | Chr1: 45974647 |
c.1036G > A | 1 | CTNS | Chr17: 3563595 |
c.10377T > A | 1 | TYR | Chr11: 88960984 |
c.1106G > A | 1 | MUT | Chr6: 49419405 |
c.1166G > A | 1 | ABCG5 | Chr2:44051210 |
c.1201G > T | 1 | HMGCS2 | Chr1: 120295996 |
c.1211T > C | 1 | ETFDH | Chr4: 159624669 |
c.1315 + 6T > A | 1 | PAH | Chr12: 103234172 |
c.1344_1345insC | 1 | ARSA | Chr22: 51063758 |
c.139G > A | 1 | AMT | Chr3: 49459656 |
c.1400C > G | 1 | SLC22A5 | Chr5: 131728257 |
c.14341G > C | 1 | FANCG | Chr9: 35075323 |
c.1663G > A | 1 | MUT | Chr6: 49412365 |
c.1726_1727insCTGC | 1 | ABCG8 | Chr2: 44102522 |
c.1819_1820insT | 1 | C5orf42 | Chr5: 37226877 |
c.1975C > T | 1 | TMEM67 | Chr8: 94809573 |
c.2062G > T | 1 | MUT | Chr6: 49403231 |
c.2104G > A | 1 | WFS1 | Chr4: 6303626 |
c.2179C > T | 1 | MUT | Chr6: 49399515 |
c.218C > T | 1 | ARSA | Chr22: 51065990 |
c.2236dupT | 1 | GAA | Chr17:78090812 |
c.229C > T | 1 | PCCA | Chr13: 100764140 |
c.2653C > T | 1 | EVC2 | Chr4:5620258 |
c.2909G > A | 1 | CFTR | Chr7: 117246728 |
c.2975C > T | 1 | ATP7B | Chr13: 52520505 |
c.370G > A | 1 | ARSA | Chr22: 51065689 |
c.3886G > A | 1 | ATP7B | Chr13: 52511629 |
c.407G > A | 1 | ALPL | Chr1: 21889712 |
c.43G > T | 1 | SLC22A5 | Chr5: 131705707 |
c.479G > A | 1 | BTD | Chr3:15685842 |
c.4981G > T | 1 | DYSF | Chr2: 71891492 |
c.503G > A | 1 | PRF1 | Chr10: 72360156 |
c.52A > T | 1 | HBB | Chr11: 5248200 |
c.5366G > A | 1 | C5orf42 | Chr5: 37182917 |
c.53C > T | 1 | ASS1 | Chr9: 133327668 |
c.639 + 2T > A | 1 | MCCC1 | Chr3: 182,788,996 |
c.736C > T | 1 | ARSA | Chr22: 51065137 |
c.748C > T | 1 | NPHP3 | Chr3: 132435676 |
c.770A > G | 1 | ETFDH | Chr4: 159616734 |
c.797_798delCA | 1 | ACADVL | Chr17:7125539–7125541 |
c.80A > G | 1 | MMACHC | Chr1: 45966084 |
c.841C > T | 1 | MCCC1 | Chr3: 182775131 |
c.865G > A | 1 | ACADVL | Chr17: 7125608 |
c.904 + 1G > T | 1 | GALT | Chr9: 34649079 |
c.953G > A | 1 | SLC45A2 | Chr5: 33954545 |
HBA1/HBA2-α3.7 | 1 | HBA1/HBA2 | Chr16 |
seq[GRCh37]del(16p13.3) | 1 | ACADS | chr16:g.199899_232773 |
SMN1-EX7 DEL | 1 | SMN1 | Chr5 |