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Characteristics of SLX4 gene mutations
|
No.
|
Mutation type
|
dbSNP RS
|
Mutation site
|
Amino acid changes
|
Exon
|
Variant type
|
| 1 | Missense | rs551385115 | c.5072A>G | p.N1691S | 14|15 | SNP |
| 2 | Splice-site variant | / | c.1683+1G>A | splice | 7|15 | SNP |
| 3 | Missense | rs774243118 | c.2990C>T | p.P997L | 12|15 | SNP |
| 18 | Missense | / | c.2425G>C | p.E809Q | 12|15 | SNP |
| 22 | Non-frameshift | / | c.568_570del | p.P190del | 3|15 | DEL |
DEL: Deletion; SNP: Single nucleotide polymorphism.
