| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90790948G>T | CA16044156 | ADGRV1 | c.14119G>T (p.Asp4707Tyr) c.3073G>T (p.Asp1025Tyr) n.1386G>T c.748G>T (p.Asp250Tyr) c.265+114739G>T (n.265+114739G>T) c.529G>T (p.Asp177Tyr) c.1102G>T (p.Asp368Tyr) n.14132G>T c.14116G>T (p.Asp4706Tyr) c.14038G>T (p.Asp4680Tyr) c.11422G>T (p.Asp3808Tyr) c.14140G>T (p.Asp4714Tyr) c.14137G>T (p.Asp4713Tyr) c.14059G>T (p.Asp4687Tyr) c.14044G>T (p.Asp4682Tyr) c.7258G>T (p.Asp2420Tyr) c.7237G>T (p.Asp2413Tyr) n.14135G>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.90790948G>A | CA122811225 | ADGRV1 | c.14119G>A (p.Asp4707Asn) c.3073G>A (p.Asp1025Asn) n.1386G>A c.748G>A (p.Asp250Asn) c.265+114739G>A (n.265+114739G>A) c.529G>A (p.Asp177Asn) c.1102G>A (p.Asp368Asn) n.14132G>A c.14116G>A (p.Asp4706Asn) c.14038G>A (p.Asp4680Asn) c.11422G>A (p.Asp3808Asn) c.14140G>A (p.Asp4714Asn) c.14137G>A (p.Asp4713Asn) c.14059G>A (p.Asp4687Asn) c.14044G>A (p.Asp4682Asn) c.7258G>A (p.Asp2420Asn) c.7237G>A (p.Asp2413Asn) n.14135G>A | dbSNP gnomAD v2 gnomAD v4 |