| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6426906A>T | CA227888 | AIPL1 | c.617T>A (p.Ile206Asn) c.428T>A (p.Ile143Asn) c.*489T>A (n.*489T>A) c.551T>A (p.Ile184Asn) c.251+7013T>A c.593T>A (p.Ile198Asn) c.581T>A (p.Ile194Asn) c.629T>A (p.Ile210Asn) c.437T>A (p.Ile146Asn) c.500T>A (p.Ile167Asn) | ClinVar dbSNP |
| 17 | g.6426906A>G | CA397395382 | AIPL1 | c.617T>C (p.Ile206Thr) c.428T>C (p.Ile143Thr) c.*489T>C (n.*489T>C) c.551T>C (p.Ile184Thr) c.251+7013T>C c.593T>C (p.Ile198Thr) c.581T>C (p.Ile194Thr) c.629T>C (p.Ile210Thr) c.437T>C (p.Ile146Thr) c.500T>C (p.Ile167Thr) | dbSNP gnomAD v4 |
| 17 | g.6426906A= | CA2245347834 | AIPL1 | c.617T= (p.Ile206=) c.428T= (p.Ile143=) c.*489T= (n.*489T=) c.551T= (p.Ile184=) c.251+7013T= c.593T= (p.Ile198=) c.581T= (p.Ile194=) c.629T= (p.Ile210=) c.437T= (p.Ile146=) c.500T= (p.Ile167=) | dbSNP |