| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.59677129_59677130dup | CA204687 | CLTC,PTRH2 | c.2737_2738dup (p.Asp913GlufsTer?) c.88_89dup (p.Asp30GlufsTer?) c.2749_2750dup (p.Asp917GlufsTer?) c.2563_2564dup (p.Asp855GlufsTer?) c.2752_2753dup (p.Asp918GlufsTer?) c.2449_2450dup (p.Asp817GlufsTer?) c.2644_2645dup (p.Asp882GlufsTer?) c.2740_2741dup (p.Asp914GlufsTer?) c.2239_2240dup (p.Asp747GlufsTer?) c.301-5189_301-5188dup (n.301-5189_301-5188dup) n.597_598dup n.223+2242_223+2243dup | ClinVar dbSNP |
| 17 | g.59677129_59677130del | CA658781850 | CLTC,PTRH2 | c.2737_2738del (p.Asp913SerfsTer9) c.88_89del (p.Asp30SerfsTer9) c.2749_2750del (p.Asp917SerfsTer9) c.2563_2564del (p.Asp855SerfsTer9) c.2752_2753del (p.Asp918SerfsTer9) c.2449_2450del (p.Asp817SerfsTer9) c.2644_2645del (p.Asp882SerfsTer9) c.2740_2741del (p.Asp914SerfsTer9) c.2239_2240del (p.Asp747SerfsTer9) c.301-5189_301-5188del (n.301-5189_301-5188del) n.597_598del n.223+2242_223+2243del | ClinVar dbSNP |