Table 2. Mutation gene sequencing results with 10 cases of HS.
| Patient | Chromosome | Gene | Transcript | Exon | Nucleotide | Amino acid | Het/Hom | Mutation type | HGMD databases |
|---|---|---|---|---|---|---|---|---|---|
| 1 | Chr8-41581138 | ANK1 | NM001142446 | 8 | c.824C>G | p.P275R | het | Missense mutation | No report |
| 2 | Chr8-41581138 | ANK1 | NM001142446 | 8 | c.824C>G | p.P275R | het | Missense mutation | No report |
| 3 | Chr8-41581138 | ANK1 | NM001142446 | 8 | c.824C>G | p.P275R | het | Missense mutation | No report |
| 4 | Chr17-42338094-42338096 | SLC4A1 | NM000342 | 5 | c.256-258GAG>TTCTC | p.E86Ffs | het | frameshift mutation | No report |
| 5 | Chr17-42338094-42338096 | SLC4A1 | NM000342 | 5 | c.256-258GAG>TTCTC | p.E86Ffs | het | frameshift mutation | No report |
| 6 | Chr14-65241110 | SPTB | NM001024858 | 23 | c.4973+5G>A | splicing | het | Splice mutation | No report |
| 7 | Chr14-65241110 | SPTB | NM001024858 | 23 | c.4973+5G>A | splicing | het | Splice mutation | No report |
| 8 | Chr4-106156811 | TET2 | NM001127208 | 3 | c.1712G>A | p.R571H | - | Missense mutation | Report |
| 9 | Chr14-65249093 | SPTB | NM01024858 | 19 | c.4181G>A | p.W1394X | het | Nonsense mutation | No report |
| 10 | Chr14-65271746 | SPTB | NM001024858 | 2 | c.211G>A | p.V71M | het | Missense mutation | No report |
Het, heterozygous; hom, homozygous; HS, hereditary spherocytosis.