| index | gene | chrom | pos | change | transcript | unp | refseq | mutation | genome |
|---|---|---|---|---|---|---|---|---|---|
| 1 | COA5 | chr2 | 98608380 | G/A | ENST00000328709.8 | Q86WW8 | NM_001008215.2 | P9L | GRCh38 |
| 2 | NAGA | chr22 | 42067209 | C/T | ENST00000396398.8;ENST00000402937.1;ENST00000403363.5 | P17050 | NM_000262.2 | D136N | GRCh38 |
| 3 | SMYD5 | chr2 | 73218934 | C/A | ENST00000389501.9 | Q6GMV2 | NM_006062.2 | A57E | GRCh38 |
| 4 | SMARCAL1 | chr2 | 216447069 | G/A | ENST00000357276.9;ENST00000358207.9 | Q9NZC9 | NM_001127207.1 | A588T | GRCh38 |
| 5 | ONECUT1 | chr15 | 52789080 | G/C | ENST00000305901.7 | Q9UBC0 | NM_004498.2 | R269G | GRCh38 |
| 6 | ALAS2 | chrX | 55017645 | C/T | ENST00000650242.1 | P22557-1 | NM_000032.4 | A282T | GRCh38 |
| 7 | ALAS2 | chrX | 55017645 | C/T | ENST00000335854.8 | P22557-2 | NM_001037967.3 | A245T | GRCh38 |
| 8 | ALAS2 | chrX | 55017645 | C/T | ENST00000396198.7 | P22557-4 | NM_001037968.3 | A269T | GRCh38 |
| 9 | AP3D1 | chr19 | 2115592 | C/T | ENST00000345016.9 | O14617-1 | NM_003938.6 | V699M | GRCh38 |
| 10 | AP3D1 | chr19 | 2115592 | C/T | ENST00000643116.3 | O14617-5 | NM_001261826.1 | V699M | GRCh38 |
| 11 | RTEL1 | chr20 | 63688301 | G/A | ENST00000370018.7 | Q9NZ71-1 | NM_016434.3 | G546D | GRCh38 |
| 12 | RTEL1 | chr20 | 63688301 | G/A | ENST00000360203.11 | Q9NZ71-6 | NM_001283009.1 | G546D | GRCh38 |
| 13 | RTEL1 | chr20 | 63688301 | G/A | ENST00000508582.7 | Q9NZ71-7 | NM_032957.4 | G570D | GRCh38 |
| 14 | RTEL1 | chr20 | 63688301 | G/A | ENST00000482936.6 | Q9NZ71-8 | NA | G546D | GRCh38 |
| 15 | RTEL1 | chr20 | 63688301 | G/A | ENST00000318100.9 | Q9NZ71-9 | NM_001283010.1 | G323D | GRCh38 |