Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2088285G>CCA394314459TSC2c.*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
16g.2088285G>ACA022169TSC2c.*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
16g.2088285G>TCA394314460TSC2c.*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
16g.2088285G=CA2202032389TSC2c.*3568G= (n.*3568G=)
c.5066G= (p.Trp1689=)
c.5216G= (p.Trp1739=)
c.*5732G= (n.*5732G=)
c.*7968G= (n.*7968G=)
c.5219G= (p.Trp1740=)
c.5150G= (p.Trp1717=)
c.5018G= (p.Trp1673=)
c.5051G= (p.Trp1684=)
c.1442G=
n.3101G=
c.3873G=
c.5078G= (p.Trp1693=)
n.816G=
c.5021G= (p.Trp1674=)
c.5087G= (p.Trp1696=)
c.5012G= (p.Trp1671=)
n.2867G=
c.5144G= (p.Trp1715=)
c.5090G= (p.Trp1697=)
c.5105G= (p.Trp1702=)
c.5015G= (p.Trp1672=)
c.5140G=
n.3303G=
c.5213G= (p.Trp1738=)
n.4034G=
n.2471G=
n.2442G=
n.2332G=
c.4874G= (p.Trp1625=)
c.*4386G= (n.*4386G=)
c.4910G= (p.Trp1637=)
n.2942G=
c.1401G=
n.2334G=
c.5273G= (p.Trp1758=)
c.5270G= (p.Trp1757=)
c.5162G= (p.Trp1721=)
c.5141G= (p.Trp1714=)
c.4487G= (p.Trp1496=)
c.5435G= (p.Trp1812=)
c.5183G= (p.Trp1728=)
c.3929G= (p.Trp1310=)
 dbSNP

Number of alleles fetched