Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2088285G>C | CA394314459 | TSC2 | c.*3568G>C (n.*3568G>C) c.5066G>C (p.Trp1689Ser) c.5216G>C (p.Trp1739Ser) c.*5732G>C (n.*5732G>C) c.*7968G>C (n.*7968G>C) c.5219G>C (p.Trp1740Ser) c.5150G>C (p.Trp1717Ser) c.5018G>C (p.Trp1673Ser) c.5051G>C (p.Trp1684Ser) c.1442G>C n.3101G>C c.3873G>C c.5078G>C (p.Trp1693Ser) n.816G>C c.5021G>C (p.Trp1674Ser) c.5087G>C (p.Trp1696Ser) c.5012G>C (p.Trp1671Ser) n.2867G>C c.5144G>C (p.Trp1715Ser) c.5090G>C (p.Trp1697Ser) c.5105G>C (p.Trp1702Ser) c.5015G>C (p.Trp1672Ser) c.5140G>C n.3303G>C c.5213G>C (p.Trp1738Ser) n.4034G>C n.2471G>C n.2442G>C n.2332G>C c.4874G>C (p.Trp1625Ser) c.*4386G>C (n.*4386G>C) c.4910G>C (p.Trp1637Ser) n.2942G>C c.1401G>C n.2334G>C c.5273G>C (p.Trp1758Ser) c.5270G>C (p.Trp1757Ser) c.5162G>C (p.Trp1721Ser) c.5141G>C (p.Trp1714Ser) c.4487G>C (p.Trp1496Ser) c.5435G>C (p.Trp1812Ser) c.5183G>C (p.Trp1728Ser) c.3929G>C (p.Trp1310Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088285G>A | CA022169 | TSC2 | c.*3568G>A (n.*3568G>A) c.5066G>A (p.Trp1689Ter) c.5216G>A (p.Trp1739Ter) c.*5732G>A (n.*5732G>A) c.*7968G>A (n.*7968G>A) c.5219G>A (p.Trp1740Ter) c.5150G>A (p.Trp1717Ter) c.5018G>A (p.Trp1673Ter) c.5051G>A (p.Trp1684Ter) c.1442G>A n.3101G>A c.3873G>A c.5078G>A (p.Trp1693Ter) n.816G>A c.5021G>A (p.Trp1674Ter) c.5087G>A (p.Trp1696Ter) c.5012G>A (p.Trp1671Ter) n.2867G>A c.5144G>A (p.Trp1715Ter) c.5090G>A (p.Trp1697Ter) c.5105G>A (p.Trp1702Ter) c.5015G>A (p.Trp1672Ter) c.5140G>A n.3303G>A c.5213G>A (p.Trp1738Ter) n.4034G>A n.2471G>A n.2442G>A n.2332G>A c.4874G>A (p.Trp1625Ter) c.*4386G>A (n.*4386G>A) c.4910G>A (p.Trp1637Ter) n.2942G>A c.1401G>A n.2334G>A c.5273G>A (p.Trp1758Ter) c.5270G>A (p.Trp1757Ter) c.5162G>A (p.Trp1721Ter) c.5141G>A (p.Trp1714Ter) c.4487G>A (p.Trp1496Ter) c.5435G>A (p.Trp1812Ter) c.5183G>A (p.Trp1728Ter) c.3929G>A (p.Trp1310Ter) | ClinVar dbSNP |
16 | g.2088285G>T | CA394314460 | TSC2 | c.*3568G>T (n.*3568G>T) c.5066G>T (p.Trp1689Leu) c.5216G>T (p.Trp1739Leu) c.*5732G>T (n.*5732G>T) c.*7968G>T (n.*7968G>T) c.5219G>T (p.Trp1740Leu) c.5150G>T (p.Trp1717Leu) c.5018G>T (p.Trp1673Leu) c.5051G>T (p.Trp1684Leu) c.1442G>T n.3101G>T c.3873G>T c.5078G>T (p.Trp1693Leu) n.816G>T c.5021G>T (p.Trp1674Leu) c.5087G>T (p.Trp1696Leu) c.5012G>T (p.Trp1671Leu) n.2867G>T c.5144G>T (p.Trp1715Leu) c.5090G>T (p.Trp1697Leu) c.5105G>T (p.Trp1702Leu) c.5015G>T (p.Trp1672Leu) c.5140G>T n.3303G>T c.5213G>T (p.Trp1738Leu) n.4034G>T n.2471G>T n.2442G>T n.2332G>T c.4874G>T (p.Trp1625Leu) c.*4386G>T (n.*4386G>T) c.4910G>T (p.Trp1637Leu) n.2942G>T c.1401G>T n.2334G>T c.5273G>T (p.Trp1758Leu) c.5270G>T (p.Trp1757Leu) c.5162G>T (p.Trp1721Leu) c.5141G>T (p.Trp1714Leu) c.4487G>T (p.Trp1496Leu) c.5435G>T (p.Trp1812Leu) c.5183G>T (p.Trp1728Leu) c.3929G>T (p.Trp1310Leu) | dbSNP |