Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.19183443C>G | CA10097640 | CLTCL1 | c.4774G>C (p.Val1592Leu) n.1389G>C n.4867G>C c.*929G>C (n.*929G>C) c.1243G>C (p.Val415Leu) c.4603G>C (p.Val1535Leu) c.961G>C (p.Val321Leu) c.4837G>C (p.Val1613Leu) c.4666G>C (p.Val1556Leu) c.4555G>C (p.Val1519Leu) c.4723G>C (p.Val1575Leu) c.4564G>C (p.Val1522Leu) c.2965G>C (p.Val989Leu) n.4480G>C c.4660G>C (p.Val1554Leu) c.4558G>C (p.Val1520Leu) c.4492G>C (p.Val1498Leu) n.4981G>C n.4785G>C n.4522G>C n.4411G>C n.4518G>C n.4407G>C n.4614G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19183443C>A | CA410647747 | CLTCL1 | c.4774G>T (p.Val1592Leu) n.1389G>T n.4867G>T c.*929G>T (n.*929G>T) c.1243G>T (p.Val415Leu) c.4603G>T (p.Val1535Leu) c.961G>T (p.Val321Leu) c.4837G>T (p.Val1613Leu) c.4666G>T (p.Val1556Leu) c.4555G>T (p.Val1519Leu) c.4723G>T (p.Val1575Leu) c.4564G>T (p.Val1522Leu) c.2965G>T (p.Val989Leu) n.4480G>T c.4660G>T (p.Val1554Leu) c.4558G>T (p.Val1520Leu) c.4492G>T (p.Val1498Leu) n.4981G>T n.4785G>T n.4522G>T n.4411G>T n.4518G>T n.4407G>T n.4614G>T | dbSNP |
22 | g.19183443C>T | CA10097639 | CLTCL1 | c.4774G>A (p.Val1592Met) n.1389G>A n.4867G>A c.*929G>A (n.*929G>A) c.1243G>A (p.Val415Met) c.4603G>A (p.Val1535Met) c.961G>A (p.Val321Met) c.4837G>A (p.Val1613Met) c.4666G>A (p.Val1556Met) c.4555G>A (p.Val1519Met) c.4723G>A (p.Val1575Met) c.4564G>A (p.Val1522Met) c.2965G>A (p.Val989Met) n.4480G>A c.4660G>A (p.Val1554Met) c.4558G>A (p.Val1520Met) c.4492G>A (p.Val1498Met) n.4981G>A n.4785G>A n.4522G>A n.4411G>A n.4518G>A n.4407G>A n.4614G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |