Table 1.
Identified low-frequency variants on the c.151C>T COCH haplotype
| Location | SNP identifier | Nucleotide change (HGVS) | Amino acid change | Frequency (percentage) gnomAD European non-Finnish |
|---|---|---|---|---|
| e4 | rs28938175 | c.151C>T | Pro51Ser | T: 0.0032 |
| i4 | rs143609554 | c.240-239A>T | T: 5.4 | |
| i6 | rs7140538 | c.436+185G>T | T: 5.5 | |
| i6 | rs10701465 | c.436+368_436+369dupAG | dupAG: 5.5 | |
| i8 | rs186627205 | c.629+1186T>C | C: 5.4 | |
| i8 | rs200080665 | c.629+1779delC | delC: 5.4 | |
| i8 | rs368638521 | c.629+1807delA | delA: 5.9a | |
| i8 | rs554238963 | c.629+1809A>C | C: 9.9a | |
| i8 | rs184635675 | c.629+1812A>T | T: 5.4 | |
| i8 | rs2295128 | c.630-208A>C | C: 5.3 | |
| i9 | rs28362773 | c.734-304T>G | G: 7.2 | |
| i11 | rs17097458 | c.1477+9C>A | A: 5.4 |
HGVS, Human Genome Variant Society.
a
No data in gnomAD; frequency data from dbSNP 153.