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| Location | Reference Allele | Alternate Allele | Location in Gene |
|---|---|---|---|
| chr1:141678582 | C | T | 5′ upstream |
| chr1:141677402 | A | T | Exon 2 |
| chr1:141665142 | C | A | Intron 4 |
| chr1:141662647 | A | G | Intron 7 |
| chr1:141660611–141661239 | — | DEL | Exon 7 |
| chr1:141659206 | T | G | Intron 8 |
| chr1:141657748 | T | C | 3′ UTR |
| chr1:141657822 | A | G | 3′ UTR |
chr, chromosome; DEL, deletion; UTR, untranslated region.
