| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.17632830C>A | CA362821098 | NUP153 | c.2479G>T (p.Ala827Ser) c.2572G>T (p.Ala858Ser) c.2353G>T (p.Ala785Ser) c.2425G>T (p.Ala809Ser) c.2461G>T (p.Ala821Ser) c.*26G>T (n.*26G>T) c.2465-3291G>T (n.2465-3291G>T) c.2407G>T (p.Ala803Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.17632830C>T | CA3647361 | NUP153 | c.2479G>A (p.Ala827Thr) c.2572G>A (p.Ala858Thr) c.2353G>A (p.Ala785Thr) c.2425G>A (p.Ala809Thr) c.2461G>A (p.Ala821Thr) c.*26G>A (n.*26G>A) c.2465-3291G>A (n.2465-3291G>A) c.2407G>A (p.Ala803Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.17632830C>G | CA362821099 | NUP153 | c.2479G>C (p.Ala827Pro) c.2572G>C (p.Ala858Pro) c.2353G>C (p.Ala785Pro) c.2425G>C (p.Ala809Pro) c.2461G>C (p.Ala821Pro) c.*26G>C (n.*26G>C) c.2465-3291G>C (n.2465-3291G>C) c.2407G>C (p.Ala803Pro) | dbSNP gnomAD v3 gnomAD v4 |