UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2088273_2088290del | CA2695221755 | TSC2 | c.*3556_*3573del (n.*3556_*3573del) c.5054_5071del (p.Tyr1685_Ala1691delinsSer) c.5204_5221del (p.Tyr1735_Ala1741delinsSer) c.*5720_*5737del (n.*5720_*5737del) c.*7956_*7973del (n.*7956_*7973del) c.5207_5224del (p.Tyr1736_Ala1742delinsSer) c.5138_5155del (p.Tyr1713_Ala1719delinsSer) c.5006_5023del (p.Tyr1669_Ala1675delinsSer) c.5039_5056del (p.Tyr1680_Ala1686delinsSer) c.1430_1447del n.3089_3106del c.3861_3878del c.5066_5083del (p.Tyr1689_Ala1695delinsSer) n.804_821del c.5009_5026del (p.Tyr1670_Ala1676delinsSer) c.5075_5092del (p.Tyr1692_Ala1698delinsSer) c.5000_5017del (p.Tyr1667_Ala1673delinsSer) n.2855_2872del c.5132_5149del (p.Tyr1711_Ala1717delinsSer) c.5078_5095del (p.Tyr1693_Ala1699delinsSer) c.5093_5110del (p.Tyr1698_Ala1704delinsSer) c.5003_5020del (p.Tyr1668_Ala1674delinsSer) c.5128_5145del n.3291_3308del c.5201_5218del (p.Tyr1734_Ala1740delinsSer) n.4022_4039del n.2459_2476del n.2430_2447del n.2320_2337del c.4862_4879del (p.Tyr1621_Ala1627delinsSer) c.*4374_*4391del (n.*4374_*4391del) c.4898_4915del (p.Tyr1633_Ala1639delinsSer) n.2930_2947del c.1389_1406del n.2322_2339del c.5261_5278del (p.Tyr1754_Ala1760delinsSer) c.5258_5275del (p.Tyr1753_Ala1759delinsSer) c.5150_5167del (p.Tyr1717_Ala1723delinsSer) c.5129_5146del (p.Tyr1710_Ala1716delinsSer) c.4475_4492del (p.Tyr1492_Ala1498delinsSer) c.5423_5440del (p.Tyr1808_Ala1814delinsSer) c.5171_5188del (p.Tyr1724_Ala1730delinsSer) c.3917_3934del (p.Tyr1306_Ala1312delinsSer) | |
| 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>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= | CA2202032389 | TSC2 | c.*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=) | |
| 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 |
| 16 | g.2088286dup | CA2697549442 | TSC2 | c.*3569dup (n.*3569dup) c.5067dup (p.Ile1690AspfsTer?) c.5217dup (p.Ile1740AspfsTer?) c.*5733dup (n.*5733dup) c.*7969dup (n.*7969dup) c.5220dup (p.Ile1741AspfsTer?) c.5151dup (p.Ile1718AspfsTer?) c.5019dup (p.Ile1674AspfsTer?) c.5052dup (p.Ile1685AspfsTer?) c.1443dup n.3102dup c.3874dup c.5079dup (p.Ile1694AspfsTer?) n.817dup c.5022dup (p.Ile1675AspfsTer?) c.5088dup (p.Ile1697AspfsTer?) c.5013dup (p.Ile1672AspfsTer?) n.2868dup c.5145dup (p.Ile1716AspfsTer?) c.5091dup (p.Ile1698AspfsTer?) c.5106dup (p.Ile1703AspfsTer?) c.5016dup (p.Ile1673AspfsTer?) c.5141dup n.3304dup c.5214dup (p.Ile1739AspfsTer?) n.4035dup n.2472dup n.2443dup n.2333dup c.4875dup (p.Ile1626AspfsTer?) c.*4387dup (n.*4387dup) c.4911dup (p.Ile1638AspfsTer?) n.2943dup c.1402dup n.2335dup c.5274dup (p.Ile1759AspfsTer?) c.5271dup (p.Ile1758AspfsTer?) c.5163dup (p.Ile1722AspfsTer?) c.5142dup (p.Ile1715AspfsTer?) c.4488dup (p.Ile1497AspfsTer?) c.5436dup (p.Ile1813AspfsTer?) c.5184dup (p.Ile1729AspfsTer?) c.3930dup (p.Ile1311AspfsTer?) | ClinVar |
| 16 | g.2088286G>A | CA022177 | TSC2 | c.*3569G>A (n.*3569G>A) c.5067G>A (p.Trp1689Ter) c.5217G>A (p.Trp1739Ter) c.*5733G>A (n.*5733G>A) c.*7969G>A (n.*7969G>A) c.5220G>A (p.Trp1740Ter) c.5151G>A (p.Trp1717Ter) c.5019G>A (p.Trp1673Ter) c.5052G>A (p.Trp1684Ter) c.1443G>A n.3102G>A c.3874G>A c.5079G>A (p.Trp1693Ter) n.817G>A c.5022G>A (p.Trp1674Ter) c.5088G>A (p.Trp1696Ter) c.5013G>A (p.Trp1671Ter) n.2868G>A c.5145G>A (p.Trp1715Ter) c.5091G>A (p.Trp1697Ter) c.5106G>A (p.Trp1702Ter) c.5016G>A (p.Trp1672Ter) c.5141G>A n.3304G>A c.5214G>A (p.Trp1738Ter) n.4035G>A n.2472G>A n.2443G>A n.2333G>A c.4875G>A (p.Trp1625Ter) c.*4387G>A (n.*4387G>A) c.4911G>A (p.Trp1637Ter) n.2943G>A c.1402G>A n.2335G>A c.5274G>A (p.Trp1758Ter) c.5271G>A (p.Trp1757Ter) c.5163G>A (p.Trp1721Ter) c.5142G>A (p.Trp1714Ter) c.4488G>A (p.Trp1496Ter) c.5436G>A (p.Trp1812Ter) c.5184G>A (p.Trp1728Ter) c.3930G>A (p.Trp1310Ter) | ClinVar dbSNP |
| 16 | g.2088286G>C | CA394314475 | TSC2 | c.*3569G>C (n.*3569G>C) c.5067G>C (p.Trp1689Cys) c.5217G>C (p.Trp1739Cys) c.*5733G>C (n.*5733G>C) c.*7969G>C (n.*7969G>C) c.5220G>C (p.Trp1740Cys) c.5151G>C (p.Trp1717Cys) c.5019G>C (p.Trp1673Cys) c.5052G>C (p.Trp1684Cys) c.1443G>C n.3102G>C c.3874G>C c.5079G>C (p.Trp1693Cys) n.817G>C c.5022G>C (p.Trp1674Cys) c.5088G>C (p.Trp1696Cys) c.5013G>C (p.Trp1671Cys) n.2868G>C c.5145G>C (p.Trp1715Cys) c.5091G>C (p.Trp1697Cys) c.5106G>C (p.Trp1702Cys) c.5016G>C (p.Trp1672Cys) c.5141G>C n.3304G>C c.5214G>C (p.Trp1738Cys) n.4035G>C n.2472G>C n.2443G>C n.2333G>C c.4875G>C (p.Trp1625Cys) c.*4387G>C (n.*4387G>C) c.4911G>C (p.Trp1637Cys) n.2943G>C c.1402G>C n.2335G>C c.5274G>C (p.Trp1758Cys) c.5271G>C (p.Trp1757Cys) c.5163G>C (p.Trp1721Cys) c.5142G>C (p.Trp1714Cys) c.4488G>C (p.Trp1496Cys) c.5436G>C (p.Trp1812Cys) c.5184G>C (p.Trp1728Cys) c.3930G>C (p.Trp1310Cys) | dbSNP gnomAD v4 |
| 16 | g.2088286G= | CA2202032405 | TSC2 | c.*3569G= (n.*3569G=) c.5067G= (p.Trp1689=) c.5217G= (p.Trp1739=) c.*5733G= (n.*5733G=) c.*7969G= (n.*7969G=) c.5220G= (p.Trp1740=) c.5151G= (p.Trp1717=) c.5019G= (p.Trp1673=) c.5052G= (p.Trp1684=) c.1443G= n.3102G= c.3874G= c.5079G= (p.Trp1693=) n.817G= c.5022G= (p.Trp1674=) c.5088G= (p.Trp1696=) c.5013G= (p.Trp1671=) n.2868G= c.5145G= (p.Trp1715=) c.5091G= (p.Trp1697=) c.5106G= (p.Trp1702=) c.5016G= (p.Trp1672=) c.5141G= n.3304G= c.5214G= (p.Trp1738=) n.4035G= n.2472G= n.2443G= n.2333G= c.4875G= (p.Trp1625=) c.*4387G= (n.*4387G=) c.4911G= (p.Trp1637=) n.2943G= c.1402G= n.2335G= c.5274G= (p.Trp1758=) c.5271G= (p.Trp1757=) c.5163G= (p.Trp1721=) c.5142G= (p.Trp1714=) c.4488G= (p.Trp1496=) c.5436G= (p.Trp1812=) c.5184G= (p.Trp1728=) c.3930G= (p.Trp1310=) | |
| 16 | g.2088286G>T | CA394314479 | TSC2 | c.*3569G>T (n.*3569G>T) c.5067G>T (p.Trp1689Cys) c.5217G>T (p.Trp1739Cys) c.*5733G>T (n.*5733G>T) c.*7969G>T (n.*7969G>T) c.5220G>T (p.Trp1740Cys) c.5151G>T (p.Trp1717Cys) c.5019G>T (p.Trp1673Cys) c.5052G>T (p.Trp1684Cys) c.1443G>T n.3102G>T c.3874G>T c.5079G>T (p.Trp1693Cys) n.817G>T c.5022G>T (p.Trp1674Cys) c.5088G>T (p.Trp1696Cys) c.5013G>T (p.Trp1671Cys) n.2868G>T c.5145G>T (p.Trp1715Cys) c.5091G>T (p.Trp1697Cys) c.5106G>T (p.Trp1702Cys) c.5016G>T (p.Trp1672Cys) c.5141G>T n.3304G>T c.5214G>T (p.Trp1738Cys) n.4035G>T n.2472G>T n.2443G>T n.2333G>T c.4875G>T (p.Trp1625Cys) c.*4387G>T (n.*4387G>T) c.4911G>T (p.Trp1637Cys) n.2943G>T c.1402G>T n.2335G>T c.5274G>T (p.Trp1758Cys) c.5271G>T (p.Trp1757Cys) c.5163G>T (p.Trp1721Cys) c.5142G>T (p.Trp1714Cys) c.4488G>T (p.Trp1496Cys) c.5436G>T (p.Trp1812Cys) c.5184G>T (p.Trp1728Cys) c.3930G>T (p.Trp1310Cys) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2088286_2088291dup | CA022192 | TSC2 | c.*3569_*3574dup (n.*3569_*3574dup) c.5067_5072dup (p.Ala1691_Arg1692insIleAla) c.5217_5222dup (p.Ala1741_Arg1742insIleAla) c.*5733_*5738dup (n.*5733_*5738dup) c.*7969_*7974dup (n.*7969_*7974dup) c.5220_5225dup (p.Ala1742_Arg1743insIleAla) c.5151_5156dup (p.Ala1719_Arg1720insIleAla) c.5019_5024dup (p.Ala1675_Arg1676insIleAla) c.5052_5057dup (p.Ala1686_Arg1687insIleAla) c.1443_1448dup n.3102_3107dup c.3874_3879dup c.5079_5084dup (p.Ala1695_Arg1696insIleAla) n.817_822dup c.5022_5027dup (p.Ala1676_Arg1677insIleAla) c.5088_5093dup (p.Ala1698_Arg1699insIleAla) c.5013_5018dup (p.Ala1673_Arg1674insIleAla) n.2868_2873dup c.5145_5150dup (p.Ala1717_Arg1718insIleAla) c.5091_5096dup (p.Ala1699_Arg1700insIleAla) c.5106_5111dup (p.Ala1704_Arg1705insIleAla) c.5016_5021dup (p.Ala1674_Arg1675insIleAla) c.5141_5146dup n.3304_3309dup c.5214_5219dup (p.Ala1740_Arg1741insIleAla) n.4035_4040dup n.2472_2477dup n.2443_2448dup n.2333_2338dup c.4875_4880dup (p.Ala1627_Arg1628insIleAla) c.*4387_*4392dup (n.*4387_*4392dup) c.4911_4916dup (p.Ala1639_Arg1640insIleAla) n.2943_2948dup c.1402_1407dup n.2335_2340dup c.5274_5279dup (p.Ala1760_Arg1761insIleAla) c.5271_5276dup (p.Ala1759_Arg1760insIleAla) c.5163_5168dup (p.Ala1723_Arg1724insIleAla) c.5142_5147dup (p.Ala1716_Arg1717insIleAla) c.4488_4493dup (p.Ala1498_Arg1499insIleAla) c.5436_5441dup (p.Ala1814_Arg1815insIleAla) c.5184_5189dup (p.Ala1730_Arg1731insIleAla) c.3930_3935dup (p.Ala1312_Arg1313insIleAla) | ClinVar dbSNP |
| 16 | g.2088287A= | CA2202032411 | TSC2 | c.*3570A= (n.*3570A=) c.5068A= (p.Ile1690=) c.5218A= (p.Ile1740=) c.*5734A= (n.*5734A=) c.*7970A= (n.*7970A=) c.5221A= (p.Ile1741=) c.5152A= (p.Ile1718=) c.5020A= (p.Ile1674=) c.5053A= (p.Ile1685=) c.1444A= n.3103A= c.3875A= c.5080A= (p.Ile1694=) n.818A= c.5023A= (p.Ile1675=) c.5089A= (p.Ile1697=) c.5014A= (p.Ile1672=) n.2869A= c.5146A= (p.Ile1716=) c.5092A= (p.Ile1698=) c.5107A= (p.Ile1703=) c.5017A= (p.Ile1673=) c.5142A= n.3305A= c.5215A= (p.Ile1739=) n.4036A= n.2473A= n.2444A= n.2334A= c.4876A= (p.Ile1626=) c.*4388A= (n.*4388A=) c.4912A= (p.Ile1638=) n.2944A= c.1403A= n.2336A= c.5275A= (p.Ile1759=) c.5272A= (p.Ile1758=) c.5164A= (p.Ile1722=) c.5143A= (p.Ile1715=) c.4489A= (p.Ile1497=) c.5437A= (p.Ile1813=) c.5185A= (p.Ile1729=) c.3931A= (p.Ile1311=) | |
| 16 | g.2088287A>C | CA394314482 | TSC2 | c.*3570A>C (n.*3570A>C) c.5068A>C (p.Ile1690Leu) c.5218A>C (p.Ile1740Leu) c.*5734A>C (n.*5734A>C) c.*7970A>C (n.*7970A>C) c.5221A>C (p.Ile1741Leu) c.5152A>C (p.Ile1718Leu) c.5020A>C (p.Ile1674Leu) c.5053A>C (p.Ile1685Leu) c.1444A>C n.3103A>C c.3875A>C c.5080A>C (p.Ile1694Leu) n.818A>C c.5023A>C (p.Ile1675Leu) c.5089A>C (p.Ile1697Leu) c.5014A>C (p.Ile1672Leu) n.2869A>C c.5146A>C (p.Ile1716Leu) c.5092A>C (p.Ile1698Leu) c.5107A>C (p.Ile1703Leu) c.5017A>C (p.Ile1673Leu) c.5142A>C n.3305A>C c.5215A>C (p.Ile1739Leu) n.4036A>C n.2473A>C n.2444A>C n.2334A>C c.4876A>C (p.Ile1626Leu) c.*4388A>C (n.*4388A>C) c.4912A>C (p.Ile1638Leu) n.2944A>C c.1403A>C n.2336A>C c.5275A>C (p.Ile1759Leu) c.5272A>C (p.Ile1758Leu) c.5164A>C (p.Ile1722Leu) c.5143A>C (p.Ile1715Leu) c.4489A>C (p.Ile1497Leu) c.5437A>C (p.Ile1813Leu) c.5185A>C (p.Ile1729Leu) c.3931A>C (p.Ile1311Leu) | dbSNP |
| 16 | g.2088287A>G | CA054501 | TSC2 | c.*3570A>G (n.*3570A>G) c.5068A>G (p.Ile1690Val) c.5218A>G (p.Ile1740Val) c.*5734A>G (n.*5734A>G) c.*7970A>G (n.*7970A>G) c.5221A>G (p.Ile1741Val) c.5152A>G (p.Ile1718Val) c.5020A>G (p.Ile1674Val) c.5053A>G (p.Ile1685Val) c.1444A>G n.3103A>G c.3875A>G c.5080A>G (p.Ile1694Val) n.818A>G c.5023A>G (p.Ile1675Val) c.5089A>G (p.Ile1697Val) c.5014A>G (p.Ile1672Val) n.2869A>G c.5146A>G (p.Ile1716Val) c.5092A>G (p.Ile1698Val) c.5107A>G (p.Ile1703Val) c.5017A>G (p.Ile1673Val) c.5142A>G n.3305A>G c.5215A>G (p.Ile1739Val) n.4036A>G n.2473A>G n.2444A>G n.2334A>G c.4876A>G (p.Ile1626Val) c.*4388A>G (n.*4388A>G) c.4912A>G (p.Ile1638Val) n.2944A>G c.1403A>G n.2336A>G c.5275A>G (p.Ile1759Val) c.5272A>G (p.Ile1758Val) c.5164A>G (p.Ile1722Val) c.5143A>G (p.Ile1715Val) c.4489A>G (p.Ile1497Val) c.5437A>G (p.Ile1813Val) c.5185A>G (p.Ile1729Val) c.3931A>G (p.Ile1311Val) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.2088287A>T | CA394314488 | TSC2 | c.*3570A>T (n.*3570A>T) c.5068A>T (p.Ile1690Phe) c.5218A>T (p.Ile1740Phe) c.*5734A>T (n.*5734A>T) c.*7970A>T (n.*7970A>T) c.5221A>T (p.Ile1741Phe) c.5152A>T (p.Ile1718Phe) c.5020A>T (p.Ile1674Phe) c.5053A>T (p.Ile1685Phe) c.1444A>T n.3103A>T c.3875A>T c.5080A>T (p.Ile1694Phe) n.818A>T c.5023A>T (p.Ile1675Phe) c.5089A>T (p.Ile1697Phe) c.5014A>T (p.Ile1672Phe) n.2869A>T c.5146A>T (p.Ile1716Phe) c.5092A>T (p.Ile1698Phe) c.5107A>T (p.Ile1703Phe) c.5017A>T (p.Ile1673Phe) c.5142A>T n.3305A>T c.5215A>T (p.Ile1739Phe) n.4036A>T n.2473A>T n.2444A>T n.2334A>T c.4876A>T (p.Ile1626Phe) c.*4388A>T (n.*4388A>T) c.4912A>T (p.Ile1638Phe) n.2944A>T c.1403A>T n.2336A>T c.5275A>T (p.Ile1759Phe) c.5272A>T (p.Ile1758Phe) c.5164A>T (p.Ile1722Phe) c.5143A>T (p.Ile1715Phe) c.4489A>T (p.Ile1497Phe) c.5437A>T (p.Ile1813Phe) c.5185A>T (p.Ile1729Phe) c.3931A>T (p.Ile1311Phe) | ClinVar dbSNP |
| 16 | g.2088288T>A | CA394314495 | TSC2 | c.*3571T>A (n.*3571T>A) c.5069T>A (p.Ile1690Asn) c.5219T>A (p.Ile1740Asn) c.*5735T>A (n.*5735T>A) c.*7971T>A (n.*7971T>A) c.5222T>A (p.Ile1741Asn) c.5153T>A (p.Ile1718Asn) c.5021T>A (p.Ile1674Asn) c.5054T>A (p.Ile1685Asn) c.1445T>A n.3104T>A c.3876T>A c.5081T>A (p.Ile1694Asn) n.819T>A c.5024T>A (p.Ile1675Asn) c.5090T>A (p.Ile1697Asn) c.5015T>A (p.Ile1672Asn) n.2870T>A c.5147T>A (p.Ile1716Asn) c.5093T>A (p.Ile1698Asn) c.5108T>A (p.Ile1703Asn) c.5018T>A (p.Ile1673Asn) c.5143T>A n.3306T>A c.5216T>A (p.Ile1739Asn) n.4037T>A n.2474T>A n.2445T>A n.2335T>A c.4877T>A (p.Ile1626Asn) c.*4389T>A (n.*4389T>A) c.4913T>A (p.Ile1638Asn) n.2945T>A c.1404T>A n.2337T>A c.5276T>A (p.Ile1759Asn) c.5273T>A (p.Ile1758Asn) c.5165T>A (p.Ile1722Asn) c.5144T>A (p.Ile1715Asn) c.4490T>A (p.Ile1497Asn) c.5438T>A (p.Ile1813Asn) c.5186T>A (p.Ile1729Asn) c.3932T>A (p.Ile1311Asn) | dbSNP |
| 16 | g.2088288T>C | CA276759496 | TSC2 | c.*3571T>C (n.*3571T>C) c.5069T>C (p.Ile1690Thr) c.5219T>C (p.Ile1740Thr) c.*5735T>C (n.*5735T>C) c.*7971T>C (n.*7971T>C) c.5222T>C (p.Ile1741Thr) c.5153T>C (p.Ile1718Thr) c.5021T>C (p.Ile1674Thr) c.5054T>C (p.Ile1685Thr) c.1445T>C n.3104T>C c.3876T>C c.5081T>C (p.Ile1694Thr) n.819T>C c.5024T>C (p.Ile1675Thr) c.5090T>C (p.Ile1697Thr) c.5015T>C (p.Ile1672Thr) n.2870T>C c.5147T>C (p.Ile1716Thr) c.5093T>C (p.Ile1698Thr) c.5108T>C (p.Ile1703Thr) c.5018T>C (p.Ile1673Thr) c.5143T>C n.3306T>C c.5216T>C (p.Ile1739Thr) n.4037T>C n.2474T>C n.2445T>C n.2335T>C c.4877T>C (p.Ile1626Thr) c.*4389T>C (n.*4389T>C) c.4913T>C (p.Ile1638Thr) n.2945T>C c.1404T>C n.2337T>C c.5276T>C (p.Ile1759Thr) c.5273T>C (p.Ile1758Thr) c.5165T>C (p.Ile1722Thr) c.5144T>C (p.Ile1715Thr) c.4490T>C (p.Ile1497Thr) c.5438T>C (p.Ile1813Thr) c.5186T>C (p.Ile1729Thr) c.3932T>C (p.Ile1311Thr) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2088288T>G | CA394314497 | TSC2 | c.*3571T>G (n.*3571T>G) c.5069T>G (p.Ile1690Ser) c.5219T>G (p.Ile1740Ser) c.*5735T>G (n.*5735T>G) c.*7971T>G (n.*7971T>G) c.5222T>G (p.Ile1741Ser) c.5153T>G (p.Ile1718Ser) c.5021T>G (p.Ile1674Ser) c.5054T>G (p.Ile1685Ser) c.1445T>G n.3104T>G c.3876T>G c.5081T>G (p.Ile1694Ser) n.819T>G c.5024T>G (p.Ile1675Ser) c.5090T>G (p.Ile1697Ser) c.5015T>G (p.Ile1672Ser) n.2870T>G c.5147T>G (p.Ile1716Ser) c.5093T>G (p.Ile1698Ser) c.5108T>G (p.Ile1703Ser) c.5018T>G (p.Ile1673Ser) c.5143T>G n.3306T>G c.5216T>G (p.Ile1739Ser) n.4037T>G n.2474T>G n.2445T>G n.2335T>G c.4877T>G (p.Ile1626Ser) c.*4389T>G (n.*4389T>G) c.4913T>G (p.Ile1638Ser) n.2945T>G c.1404T>G n.2337T>G c.5276T>G (p.Ile1759Ser) c.5273T>G (p.Ile1758Ser) c.5165T>G (p.Ile1722Ser) c.5144T>G (p.Ile1715Ser) c.4490T>G (p.Ile1497Ser) c.5438T>G (p.Ile1813Ser) c.5186T>G (p.Ile1729Ser) c.3932T>G (p.Ile1311Ser) | dbSNP |
| 16 | g.2088288T= | CA2202032417 | TSC2 | c.*3571T= (n.*3571T=) c.5069T= (p.Ile1690=) c.5219T= (p.Ile1740=) c.*5735T= (n.*5735T=) c.*7971T= (n.*7971T=) c.5222T= (p.Ile1741=) c.5153T= (p.Ile1718=) c.5021T= (p.Ile1674=) c.5054T= (p.Ile1685=) c.1445T= n.3104T= c.3876T= c.5081T= (p.Ile1694=) n.819T= c.5024T= (p.Ile1675=) c.5090T= (p.Ile1697=) c.5015T= (p.Ile1672=) n.2870T= c.5147T= (p.Ile1716=) c.5093T= (p.Ile1698=) c.5108T= (p.Ile1703=) c.5018T= (p.Ile1673=) c.5143T= n.3306T= c.5216T= (p.Ile1739=) n.4037T= n.2474T= n.2445T= n.2335T= c.4877T= (p.Ile1626=) c.*4389T= (n.*4389T=) c.4913T= (p.Ile1638=) n.2945T= c.1404T= n.2337T= c.5276T= (p.Ile1759=) c.5273T= (p.Ile1758=) c.5165T= (p.Ile1722=) c.5144T= (p.Ile1715=) c.4490T= (p.Ile1497=) c.5438T= (p.Ile1813=) c.5186T= (p.Ile1729=) c.3932T= (p.Ile1311=) | |
| 16 | g.2088289T>A | CA493043810 | TSC2 | c.*3572T>A (n.*3572T>A) c.5070T>A (p.Ile1690=) c.5220T>A (p.Ile1740=) c.*5736T>A (n.*5736T>A) c.*7972T>A (n.*7972T>A) c.5223T>A (p.Ile1741=) c.5154T>A (p.Ile1718=) c.5022T>A (p.Ile1674=) c.5055T>A (p.Ile1685=) c.1446T>A n.3105T>A c.3877T>A c.5082T>A (p.Ile1694=) n.820T>A c.5025T>A (p.Ile1675=) c.5091T>A (p.Ile1697=) c.5016T>A (p.Ile1672=) n.2871T>A c.5148T>A (p.Ile1716=) c.5094T>A (p.Ile1698=) c.5109T>A (p.Ile1703=) c.5019T>A (p.Ile1673=) c.5144T>A n.3307T>A c.5217T>A (p.Ile1739=) n.4038T>A n.2475T>A n.2446T>A n.2336T>A c.4878T>A (p.Ile1626=) c.*4390T>A (n.*4390T>A) c.4914T>A (p.Ile1638=) n.2946T>A c.1405T>A n.2338T>A c.5277T>A (p.Ile1759=) c.5274T>A (p.Ile1758=) c.5166T>A (p.Ile1722=) c.5145T>A (p.Ile1715=) c.4491T>A (p.Ile1497=) c.5439T>A (p.Ile1813=) c.5187T>A (p.Ile1729=) c.3933T>A (p.Ile1311=) | |
| 16 | g.2088289T>C | CA493043811 | TSC2 | c.*3572T>C (n.*3572T>C) c.5070T>C (p.Ile1690=) c.5220T>C (p.Ile1740=) c.*5736T>C (n.*5736T>C) c.*7972T>C (n.*7972T>C) c.5223T>C (p.Ile1741=) c.5154T>C (p.Ile1718=) c.5022T>C (p.Ile1674=) c.5055T>C (p.Ile1685=) c.1446T>C n.3105T>C c.3877T>C c.5082T>C (p.Ile1694=) n.820T>C c.5025T>C (p.Ile1675=) c.5091T>C (p.Ile1697=) c.5016T>C (p.Ile1672=) n.2871T>C c.5148T>C (p.Ile1716=) c.5094T>C (p.Ile1698=) c.5109T>C (p.Ile1703=) c.5019T>C (p.Ile1673=) c.5144T>C n.3307T>C c.5217T>C (p.Ile1739=) n.4038T>C n.2475T>C n.2446T>C n.2336T>C c.4878T>C (p.Ile1626=) c.*4390T>C (n.*4390T>C) c.4914T>C (p.Ile1638=) n.2946T>C c.1405T>C n.2338T>C c.5277T>C (p.Ile1759=) c.5274T>C (p.Ile1758=) c.5166T>C (p.Ile1722=) c.5145T>C (p.Ile1715=) c.4491T>C (p.Ile1497=) c.5439T>C (p.Ile1813=) c.5187T>C (p.Ile1729=) c.3933T>C (p.Ile1311=) | |
| 16 | g.2088289T>G | CA394314504 | TSC2 | c.*3572T>G (n.*3572T>G) c.5070T>G (p.Ile1690Met) c.5220T>G (p.Ile1740Met) c.*5736T>G (n.*5736T>G) c.*7972T>G (n.*7972T>G) c.5223T>G (p.Ile1741Met) c.5154T>G (p.Ile1718Met) c.5022T>G (p.Ile1674Met) c.5055T>G (p.Ile1685Met) c.1446T>G n.3105T>G c.3877T>G c.5082T>G (p.Ile1694Met) n.820T>G c.5025T>G (p.Ile1675Met) c.5091T>G (p.Ile1697Met) c.5016T>G (p.Ile1672Met) n.2871T>G c.5148T>G (p.Ile1716Met) c.5094T>G (p.Ile1698Met) c.5109T>G (p.Ile1703Met) c.5019T>G (p.Ile1673Met) c.5144T>G n.3307T>G c.5217T>G (p.Ile1739Met) n.4038T>G n.2475T>G n.2446T>G n.2336T>G c.4878T>G (p.Ile1626Met) c.*4390T>G (n.*4390T>G) c.4914T>G (p.Ile1638Met) n.2946T>G c.1405T>G n.2338T>G c.5277T>G (p.Ile1759Met) c.5274T>G (p.Ile1758Met) c.5166T>G (p.Ile1722Met) c.5145T>G (p.Ile1715Met) c.4491T>G (p.Ile1497Met) c.5439T>G (p.Ile1813Met) c.5187T>G (p.Ile1729Met) c.3933T>G (p.Ile1311Met) | |
| 16 | g.2088289_2088307delinsTGCCCGGCTCCGCCACATC | CA2202032424 | TSC2 | c.*3572_*3590delinsTGCCCGGCTCCGCCACATC (n.*3572_*3590delinsTGCCCGGCTCCGCCACATC) c.5070_5088delinsTGCCCGGCTCCGCCACATC (p.Ile1690=) c.5220_5238delinsTGCCCGGCTCCGCCACATC (p.Ile1740=) c.*5736_*5754delinsTGCCCGGCTCCGCCACATC (n.*5736_*5754delinsTGCCCGGCTCCGCCACATC) c.*7972_*7990delinsTGCCCGGCTCCGCCACATC (n.*7972_*7990delinsTGCCCGGCTCCGCCACATC) c.5223_5241delinsTGCCCGGCTCCGCCACATC (p.Ile1741=) c.5154_5172delinsTGCCCGGCTCCGCCACATC (p.Ile1718=) c.5022_5040delinsTGCCCGGCTCCGCCACATC (p.Ile1674=) c.5055_5073delinsTGCCCGGCTCCGCCACATC (p.Ile1685=) c.1446_1464delinsTGCCCGGCTCCGCCACATC n.3105_3123delinsTGCCCGGCTCCGCCACATC c.3877_3895delinsTGCCCGGCTCCGCCACATC c.5082_5100delinsTGCCCGGCTCCGCCACATC (p.Ile1694=) n.820_838delinsTGCCCGGCTCCGCCACATC c.5025_5043delinsTGCCCGGCTCCGCCACATC (p.Ile1675=) c.5091_5109delinsTGCCCGGCTCCGCCACATC (p.Ile1697=) c.5016_5034delinsTGCCCGGCTCCGCCACATC (p.Ile1672=) n.2871_2889delinsTGCCCGGCTCCGCCACATC c.5148_5166delinsTGCCCGGCTCCGCCACATC (p.Ile1716=) c.5094_5112delinsTGCCCGGCTCCGCCACATC (p.Ile1698=) c.5109_5127delinsTGCCCGGCTCCGCCACATC (p.Ile1703=) c.5019_5037delinsTGCCCGGCTCCGCCACATC (p.Ile1673=) c.5144_5162delinsTGCCCGGCTCCGCCACATC n.3307_3325delinsTGCCCGGCTCCGCCACATC c.5217_5235delinsTGCCCGGCTCCGCCACATC (p.Ile1739=) n.4038_4056delinsTGCCCGGCTCCGCCACATC n.2475_2493delinsTGCCCGGCTCCGCCACATC n.2446_2464delinsTGCCCGGCTCCGCCACATC n.2336_2354delinsTGCCCGGCTCCGCCACATC c.4878_4896delinsTGCCCGGCTCCGCCACATC (p.Ile1626=) c.*4390_*4408delinsTGCCCGGCTCCGCCACATC (n.*4390_*4408delinsTGCCCGGCTCCGCCACATC) c.4914_4932delinsTGCCCGGCTCCGCCACATC (p.Ile1638=) n.2946_2964delinsTGCCCGGCTCCGCCACATC c.1405_1423delinsTGCCCGGCTCCGCCACATC n.2338_2356delinsTGCCCGGCTCCGCCACATC c.5277_5295delinsTGCCCGGCTCCGCCACATC (p.Ile1759=) c.5274_5292delinsTGCCCGGCTCCGCCACATC (p.Ile1758=) c.5166_5184delinsTGCCCGGCTCCGCCACATC (p.Ile1722=) c.5145_5163delinsTGCCCGGCTCCGCCACATC (p.Ile1715=) c.4491_4509delinsTGCCCGGCTCCGCCACATC (p.Ile1497=) c.5439_5457delinsTGCCCGGCTCCGCCACATC (p.Ile1813=) c.5187_5205delinsTGCCCGGCTCCGCCACATC (p.Ile1729=) c.3933_3951delinsTGCCCGGCTCCGCCACATC (p.Ile1311=) | |
| 16 | g.2088290G>A | CA394314508 | TSC2 | c.*3573G>A (n.*3573G>A) c.5071G>A (p.Ala1691Thr) c.5221G>A (p.Ala1741Thr) c.*5737G>A (n.*5737G>A) c.*7973G>A (n.*7973G>A) c.5224G>A (p.Ala1742Thr) c.5155G>A (p.Ala1719Thr) c.5023G>A (p.Ala1675Thr) c.5056G>A (p.Ala1686Thr) c.1447G>A n.3106G>A c.3878G>A c.5083G>A (p.Ala1695Thr) n.821G>A c.5026G>A (p.Ala1676Thr) c.5092G>A (p.Ala1698Thr) c.5017G>A (p.Ala1673Thr) n.2872G>A c.5149G>A (p.Ala1717Thr) c.5095G>A (p.Ala1699Thr) c.5110G>A (p.Ala1704Thr) c.5020G>A (p.Ala1674Thr) c.5145G>A n.3308G>A c.5218G>A (p.Ala1740Thr) n.4039G>A n.2476G>A n.2447G>A n.2337G>A c.4879G>A (p.Ala1627Thr) c.*4391G>A (n.*4391G>A) c.4915G>A (p.Ala1639Thr) n.2947G>A c.1406G>A n.2339G>A c.5278G>A (p.Ala1760Thr) c.5275G>A (p.Ala1759Thr) c.5167G>A (p.Ala1723Thr) c.5146G>A (p.Ala1716Thr) c.4492G>A (p.Ala1498Thr) c.5440G>A (p.Ala1814Thr) c.5188G>A (p.Ala1730Thr) c.3934G>A (p.Ala1312Thr) | dbSNP |
| 16 | g.2088290G>C | CA394314512 | TSC2 | c.*3573G>C (n.*3573G>C) c.5071G>C (p.Ala1691Pro) c.5221G>C (p.Ala1741Pro) c.*5737G>C (n.*5737G>C) c.*7973G>C (n.*7973G>C) c.5224G>C (p.Ala1742Pro) c.5155G>C (p.Ala1719Pro) c.5023G>C (p.Ala1675Pro) c.5056G>C (p.Ala1686Pro) c.1447G>C n.3106G>C c.3878G>C c.5083G>C (p.Ala1695Pro) n.821G>C c.5026G>C (p.Ala1676Pro) c.5092G>C (p.Ala1698Pro) c.5017G>C (p.Ala1673Pro) n.2872G>C c.5149G>C (p.Ala1717Pro) c.5095G>C (p.Ala1699Pro) c.5110G>C (p.Ala1704Pro) c.5020G>C (p.Ala1674Pro) c.5145G>C n.3308G>C c.5218G>C (p.Ala1740Pro) n.4039G>C n.2476G>C n.2447G>C n.2337G>C c.4879G>C (p.Ala1627Pro) c.*4391G>C (n.*4391G>C) c.4915G>C (p.Ala1639Pro) n.2947G>C c.1406G>C n.2339G>C c.5278G>C (p.Ala1760Pro) c.5275G>C (p.Ala1759Pro) c.5167G>C (p.Ala1723Pro) c.5146G>C (p.Ala1716Pro) c.4492G>C (p.Ala1498Pro) c.5440G>C (p.Ala1814Pro) c.5188G>C (p.Ala1730Pro) c.3934G>C (p.Ala1312Pro) | dbSNP |
| 16 | g.2088290G= | CA2202032429 | TSC2 | c.*3573G= (n.*3573G=) c.5071G= (p.Ala1691=) c.5221G= (p.Ala1741=) c.*5737G= (n.*5737G=) c.*7973G= (n.*7973G=) c.5224G= (p.Ala1742=) c.5155G= (p.Ala1719=) c.5023G= (p.Ala1675=) c.5056G= (p.Ala1686=) c.1447G= n.3106G= c.3878G= c.5083G= (p.Ala1695=) n.821G= c.5026G= (p.Ala1676=) c.5092G= (p.Ala1698=) c.5017G= (p.Ala1673=) n.2872G= c.5149G= (p.Ala1717=) c.5095G= (p.Ala1699=) c.5110G= (p.Ala1704=) c.5020G= (p.Ala1674=) c.5145G= n.3308G= c.5218G= (p.Ala1740=) n.4039G= n.2476G= n.2447G= n.2337G= c.4879G= (p.Ala1627=) c.*4391G= (n.*4391G=) c.4915G= (p.Ala1639=) n.2947G= c.1406G= n.2339G= c.5278G= (p.Ala1760=) c.5275G= (p.Ala1759=) c.5167G= (p.Ala1723=) c.5146G= (p.Ala1716=) c.4492G= (p.Ala1498=) c.5440G= (p.Ala1814=) c.5188G= (p.Ala1730=) c.3934G= (p.Ala1312=) | |
| 16 | g.2088290G>T | CA394314515 | TSC2 | c.*3573G>T (n.*3573G>T) c.5071G>T (p.Ala1691Ser) c.5221G>T (p.Ala1741Ser) c.*5737G>T (n.*5737G>T) c.*7973G>T (n.*7973G>T) c.5224G>T (p.Ala1742Ser) c.5155G>T (p.Ala1719Ser) c.5023G>T (p.Ala1675Ser) c.5056G>T (p.Ala1686Ser) c.1447G>T n.3106G>T c.3878G>T c.5083G>T (p.Ala1695Ser) n.821G>T c.5026G>T (p.Ala1676Ser) c.5092G>T (p.Ala1698Ser) c.5017G>T (p.Ala1673Ser) n.2872G>T c.5149G>T (p.Ala1717Ser) c.5095G>T (p.Ala1699Ser) c.5110G>T (p.Ala1704Ser) c.5020G>T (p.Ala1674Ser) c.5145G>T n.3308G>T c.5218G>T (p.Ala1740Ser) n.4039G>T n.2476G>T n.2447G>T n.2337G>T c.4879G>T (p.Ala1627Ser) c.*4391G>T (n.*4391G>T) c.4915G>T (p.Ala1639Ser) n.2947G>T c.1406G>T n.2339G>T c.5278G>T (p.Ala1760Ser) c.5275G>T (p.Ala1759Ser) c.5167G>T (p.Ala1723Ser) c.5146G>T (p.Ala1716Ser) c.4492G>T (p.Ala1498Ser) c.5440G>T (p.Ala1814Ser) c.5188G>T (p.Ala1730Ser) c.3934G>T (p.Ala1312Ser) | |
| 16 | g.2088290_2088307del | CA022183 | TSC2 | c.*3573_*3590del (n.*3573_*3590del) c.5071_5088del (p.Ala1691_Ile1696del) c.5221_5238del (p.Ala1741_Ile1746del) c.*5737_*5754del (n.*5737_*5754del) c.*7973_*7990del (n.*7973_*7990del) c.5224_5241del (p.Ala1742_Ile1747del) c.5155_5172del (p.Ala1719_Ile1724del) c.5023_5040del (p.Ala1675_Ile1680del) c.5056_5073del (p.Ala1686_Ile1691del) c.1447_1464del n.3106_3123del c.3878_3895del c.5083_5100del (p.Ala1695_Ile1700del) n.821_838del c.5026_5043del (p.Ala1676_Ile1681del) c.5092_5109del (p.Ala1698_Ile1703del) c.5017_5034del (p.Ala1673_Ile1678del) n.2872_2889del c.5149_5166del (p.Ala1717_Ile1722del) c.5095_5112del (p.Ala1699_Ile1704del) c.5110_5127del (p.Ala1704_Ile1709del) c.5020_5037del (p.Ala1674_Ile1679del) c.5145_5162del n.3308_3325del c.5218_5235del (p.Ala1740_Ile1745del) n.4039_4056del n.2476_2493del n.2447_2464del n.2337_2354del c.4879_4896del (p.Ala1627_Ile1632del) c.*4391_*4408del (n.*4391_*4408del) c.4915_4932del (p.Ala1639_Ile1644del) n.2947_2964del c.1406_1423del n.2339_2356del c.5278_5295del (p.Ala1760_Ile1765del) c.5275_5292del (p.Ala1759_Ile1764del) c.5167_5184del (p.Ala1723_Ile1728del) c.5146_5163del (p.Ala1716_Ile1721del) c.4492_4509del (p.Ala1498_Ile1503del) c.5440_5457del (p.Ala1814_Ile1819del) c.5188_5205del (p.Ala1730_Ile1735del) c.3934_3951del (p.Ala1312_Ile1317del) | ClinVar dbSNP |
| 16 | g.2088291C>A | CA394314519 | TSC2 | c.*3574C>A (n.*3574C>A) c.5072C>A (p.Ala1691Asp) c.5222C>A (p.Ala1741Asp) c.*5738C>A (n.*5738C>A) c.*7974C>A (n.*7974C>A) c.5225C>A (p.Ala1742Asp) c.5156C>A (p.Ala1719Asp) c.5024C>A (p.Ala1675Asp) c.5057C>A (p.Ala1686Asp) c.1448C>A n.3107C>A c.3879C>A c.5084C>A (p.Ala1695Asp) n.822C>A c.5027C>A (p.Ala1676Asp) c.5093C>A (p.Ala1698Asp) c.5018C>A (p.Ala1673Asp) n.2873C>A c.5150C>A (p.Ala1717Asp) c.5096C>A (p.Ala1699Asp) c.5111C>A (p.Ala1704Asp) c.5021C>A (p.Ala1674Asp) c.5146C>A n.3309C>A c.5219C>A (p.Ala1740Asp) n.4040C>A n.2477C>A n.2448C>A n.2338C>A c.4880C>A (p.Ala1627Asp) c.*4392C>A (n.*4392C>A) c.4916C>A (p.Ala1639Asp) n.2948C>A c.1407C>A n.2340C>A c.5279C>A (p.Ala1760Asp) c.5276C>A (p.Ala1759Asp) c.5168C>A (p.Ala1723Asp) c.5147C>A (p.Ala1716Asp) c.4493C>A (p.Ala1498Asp) c.5441C>A (p.Ala1814Asp) c.5189C>A (p.Ala1730Asp) c.3935C>A (p.Ala1312Asp) | |
| 16 | g.2088291C= | CA2202032436 | TSC2 | c.*3574C= (n.*3574C=) c.5072C= (p.Ala1691=) c.5222C= (p.Ala1741=) c.*5738C= (n.*5738C=) c.*7974C= (n.*7974C=) c.5225C= (p.Ala1742=) c.5156C= (p.Ala1719=) c.5024C= (p.Ala1675=) c.5057C= (p.Ala1686=) c.1448C= n.3107C= c.3879C= c.5084C= (p.Ala1695=) n.822C= c.5027C= (p.Ala1676=) c.5093C= (p.Ala1698=) c.5018C= (p.Ala1673=) n.2873C= c.5150C= (p.Ala1717=) c.5096C= (p.Ala1699=) c.5111C= (p.Ala1704=) c.5021C= (p.Ala1674=) c.5146C= n.3309C= c.5219C= (p.Ala1740=) n.4040C= n.2477C= n.2448C= n.2338C= c.4880C= (p.Ala1627=) c.*4392C= (n.*4392C=) c.4916C= (p.Ala1639=) n.2948C= c.1407C= n.2340C= c.5279C= (p.Ala1760=) c.5276C= (p.Ala1759=) c.5168C= (p.Ala1723=) c.5147C= (p.Ala1716=) c.4493C= (p.Ala1498=) c.5441C= (p.Ala1814=) c.5189C= (p.Ala1730=) c.3935C= (p.Ala1312=) | |
| 16 | g.2088291C>G | CA394314523 | TSC2 | c.*3574C>G (n.*3574C>G) c.5072C>G (p.Ala1691Gly) c.5222C>G (p.Ala1741Gly) c.*5738C>G (n.*5738C>G) c.*7974C>G (n.*7974C>G) c.5225C>G (p.Ala1742Gly) c.5156C>G (p.Ala1719Gly) c.5024C>G (p.Ala1675Gly) c.5057C>G (p.Ala1686Gly) c.1448C>G n.3107C>G c.3879C>G c.5084C>G (p.Ala1695Gly) n.822C>G c.5027C>G (p.Ala1676Gly) c.5093C>G (p.Ala1698Gly) c.5018C>G (p.Ala1673Gly) n.2873C>G c.5150C>G (p.Ala1717Gly) c.5096C>G (p.Ala1699Gly) c.5111C>G (p.Ala1704Gly) c.5021C>G (p.Ala1674Gly) c.5146C>G n.3309C>G c.5219C>G (p.Ala1740Gly) n.4040C>G n.2477C>G n.2448C>G n.2338C>G c.4880C>G (p.Ala1627Gly) c.*4392C>G (n.*4392C>G) c.4916C>G (p.Ala1639Gly) n.2948C>G c.1407C>G n.2340C>G c.5279C>G (p.Ala1760Gly) c.5276C>G (p.Ala1759Gly) c.5168C>G (p.Ala1723Gly) c.5147C>G (p.Ala1716Gly) c.4493C>G (p.Ala1498Gly) c.5441C>G (p.Ala1814Gly) c.5189C>G (p.Ala1730Gly) c.3935C>G (p.Ala1312Gly) | ClinVar dbSNP |
| 16 | g.2088291C>T | CA394314530 | TSC2 | c.*3574C>T (n.*3574C>T) c.5072C>T (p.Ala1691Val) c.5222C>T (p.Ala1741Val) c.*5738C>T (n.*5738C>T) c.*7974C>T (n.*7974C>T) c.5225C>T (p.Ala1742Val) c.5156C>T (p.Ala1719Val) c.5024C>T (p.Ala1675Val) c.5057C>T (p.Ala1686Val) c.1448C>T n.3107C>T c.3879C>T c.5084C>T (p.Ala1695Val) n.822C>T c.5027C>T (p.Ala1676Val) c.5093C>T (p.Ala1698Val) c.5018C>T (p.Ala1673Val) n.2873C>T c.5150C>T (p.Ala1717Val) c.5096C>T (p.Ala1699Val) c.5111C>T (p.Ala1704Val) c.5021C>T (p.Ala1674Val) c.5146C>T n.3309C>T c.5219C>T (p.Ala1740Val) n.4040C>T n.2477C>T n.2448C>T n.2338C>T c.4880C>T (p.Ala1627Val) c.*4392C>T (n.*4392C>T) c.4916C>T (p.Ala1639Val) n.2948C>T c.1407C>T n.2340C>T c.5279C>T (p.Ala1760Val) c.5276C>T (p.Ala1759Val) c.5168C>T (p.Ala1723Val) c.5147C>T (p.Ala1716Val) c.4493C>T (p.Ala1498Val) c.5441C>T (p.Ala1814Val) c.5189C>T (p.Ala1730Val) c.3935C>T (p.Ala1312Val) | ClinVar dbSNP gnomAD v2 |
| 16 | g.2088293dup | CA2202032434 | TSC2 | c.*3576dup (n.*3576dup) c.5074dup (p.Arg1692ProfsTer?) c.5224dup (p.Arg1742ProfsTer?) c.*5740dup (n.*5740dup) c.*7976dup (n.*7976dup) c.5227dup (p.Arg1743ProfsTer?) c.5158dup (p.Arg1720ProfsTer?) c.5026dup (p.Arg1676ProfsTer?) c.5059dup (p.Arg1687ProfsTer?) c.1450dup n.3109dup c.3881dup c.5086dup (p.Arg1696ProfsTer?) n.824dup c.5029dup (p.Arg1677ProfsTer?) c.5095dup (p.Arg1699ProfsTer?) c.5020dup (p.Arg1674ProfsTer?) n.2875dup c.5152dup (p.Arg1718ProfsTer?) c.5098dup (p.Arg1700ProfsTer?) c.5113dup (p.Arg1705ProfsTer?) c.5023dup (p.Arg1675ProfsTer?) c.5148dup n.3311dup c.5221dup (p.Arg1741ProfsTer?) n.4042dup n.2479dup n.2450dup n.2340dup c.4882dup (p.Arg1628ProfsTer?) c.*4394dup (n.*4394dup) c.4918dup (p.Arg1640ProfsTer?) n.2950dup c.1409dup n.2342dup c.5281dup (p.Arg1761ProfsTer?) c.5278dup (p.Arg1760ProfsTer?) c.5170dup (p.Arg1724ProfsTer?) c.5149dup (p.Arg1717ProfsTer?) c.4495dup (p.Arg1499ProfsTer?) c.5443dup (p.Arg1815ProfsTer?) c.5191dup (p.Arg1731ProfsTer?) c.3937dup (p.Arg1313ProfsTer?) | dbSNP |
| 16 | g.2088292C>A | CA493043818 | TSC2 | c.*3575C>A (n.*3575C>A) c.5073C>A (p.Ala1691=) c.5223C>A (p.Ala1741=) c.*5739C>A (n.*5739C>A) c.*7975C>A (n.*7975C>A) c.5226C>A (p.Ala1742=) c.5157C>A (p.Ala1719=) c.5025C>A (p.Ala1675=) c.5058C>A (p.Ala1686=) c.1449C>A n.3108C>A c.3880C>A c.5085C>A (p.Ala1695=) n.823C>A c.5028C>A (p.Ala1676=) c.5094C>A (p.Ala1698=) c.5019C>A (p.Ala1673=) n.2874C>A c.5151C>A (p.Ala1717=) c.5097C>A (p.Ala1699=) c.5112C>A (p.Ala1704=) c.5022C>A (p.Ala1674=) c.5147C>A n.3310C>A c.5220C>A (p.Ala1740=) n.4041C>A n.2478C>A n.2449C>A n.2339C>A c.4881C>A (p.Ala1627=) c.*4393C>A (n.*4393C>A) c.4917C>A (p.Ala1639=) n.2949C>A c.1408C>A n.2341C>A c.5280C>A (p.Ala1760=) c.5277C>A (p.Ala1759=) c.5169C>A (p.Ala1723=) c.5148C>A (p.Ala1716=) c.4494C>A (p.Ala1498=) c.5442C>A (p.Ala1814=) c.5190C>A (p.Ala1730=) c.3936C>A (p.Ala1312=) | |
| 16 | g.2088292C= | CA2202032452 | TSC2 | c.*3575C= (n.*3575C=) c.5073C= (p.Ala1691=) c.5223C= (p.Ala1741=) c.*5739C= (n.*5739C=) c.*7975C= (n.*7975C=) c.5226C= (p.Ala1742=) c.5157C= (p.Ala1719=) c.5025C= (p.Ala1675=) c.5058C= (p.Ala1686=) c.1449C= n.3108C= c.3880C= c.5085C= (p.Ala1695=) n.823C= c.5028C= (p.Ala1676=) c.5094C= (p.Ala1698=) c.5019C= (p.Ala1673=) n.2874C= c.5151C= (p.Ala1717=) c.5097C= (p.Ala1699=) c.5112C= (p.Ala1704=) c.5022C= (p.Ala1674=) c.5147C= n.3310C= c.5220C= (p.Ala1740=) n.4041C= n.2478C= n.2449C= n.2339C= c.4881C= (p.Ala1627=) c.*4393C= (n.*4393C=) c.4917C= (p.Ala1639=) n.2949C= c.1408C= n.2341C= c.5280C= (p.Ala1760=) c.5277C= (p.Ala1759=) c.5169C= (p.Ala1723=) c.5148C= (p.Ala1716=) c.4494C= (p.Ala1498=) c.5442C= (p.Ala1814=) c.5190C= (p.Ala1730=) c.3936C= (p.Ala1312=) | |
| 16 | g.2088292C>G | CA493043820 | TSC2 | c.*3575C>G (n.*3575C>G) c.5073C>G (p.Ala1691=) c.5223C>G (p.Ala1741=) c.*5739C>G (n.*5739C>G) c.*7975C>G (n.*7975C>G) c.5226C>G (p.Ala1742=) c.5157C>G (p.Ala1719=) c.5025C>G (p.Ala1675=) c.5058C>G (p.Ala1686=) c.1449C>G n.3108C>G c.3880C>G c.5085C>G (p.Ala1695=) n.823C>G c.5028C>G (p.Ala1676=) c.5094C>G (p.Ala1698=) c.5019C>G (p.Ala1673=) n.2874C>G c.5151C>G (p.Ala1717=) c.5097C>G (p.Ala1699=) c.5112C>G (p.Ala1704=) c.5022C>G (p.Ala1674=) c.5147C>G n.3310C>G c.5220C>G (p.Ala1740=) n.4041C>G n.2478C>G n.2449C>G n.2339C>G c.4881C>G (p.Ala1627=) c.*4393C>G (n.*4393C>G) c.4917C>G (p.Ala1639=) n.2949C>G c.1408C>G n.2341C>G c.5280C>G (p.Ala1760=) c.5277C>G (p.Ala1759=) c.5169C>G (p.Ala1723=) c.5148C>G (p.Ala1716=) c.4494C>G (p.Ala1498=) c.5442C>G (p.Ala1814=) c.5190C>G (p.Ala1730=) c.3936C>G (p.Ala1312=) | ClinVar dbSNP |
| 16 | g.2088292C>T | CA493043821 | TSC2 | c.*3575C>T (n.*3575C>T) c.5073C>T (p.Ala1691=) c.5223C>T (p.Ala1741=) c.*5739C>T (n.*5739C>T) c.*7975C>T (n.*7975C>T) c.5226C>T (p.Ala1742=) c.5157C>T (p.Ala1719=) c.5025C>T (p.Ala1675=) c.5058C>T (p.Ala1686=) c.1449C>T n.3108C>T c.3880C>T c.5085C>T (p.Ala1695=) n.823C>T c.5028C>T (p.Ala1676=) c.5094C>T (p.Ala1698=) c.5019C>T (p.Ala1673=) n.2874C>T c.5151C>T (p.Ala1717=) c.5097C>T (p.Ala1699=) c.5112C>T (p.Ala1704=) c.5022C>T (p.Ala1674=) c.5147C>T n.3310C>T c.5220C>T (p.Ala1740=) n.4041C>T n.2478C>T n.2449C>T n.2339C>T c.4881C>T (p.Ala1627=) c.*4393C>T (n.*4393C>T) c.4917C>T (p.Ala1639=) n.2949C>T c.1408C>T n.2341C>T c.5280C>T (p.Ala1760=) c.5277C>T (p.Ala1759=) c.5169C>T (p.Ala1723=) c.5148C>T (p.Ala1716=) c.4494C>T (p.Ala1498=) c.5442C>T (p.Ala1814=) c.5190C>T (p.Ala1730=) c.3936C>T (p.Ala1312=) | ClinVar |
| 16 | g.2088292_2088309del | CA913184879 | TSC2 | c.*3575_*3592del (n.*3575_*3592del) c.5073_5090del (p.Arg1692_Lys1697del) c.5223_5240del (p.Arg1742_Lys1747del) c.*5739_*5756del (n.*5739_*5756del) c.*7975_*7992del (n.*7975_*7992del) c.5226_5243del (p.Arg1743_Lys1748del) c.5157_5174del (p.Arg1720_Lys1725del) c.5025_5042del (p.Arg1676_Lys1681del) c.5058_5075del (p.Arg1687_Lys1692del) c.1449_1466del n.3108_3125del c.3880_3897del c.5085_5102del (p.Arg1696_Lys1701del) n.823_840del c.5028_5045del (p.Arg1677_Lys1682del) c.5094_5111del (p.Arg1699_Lys1704del) c.5019_5036del (p.Arg1674_Lys1679del) n.2874_2891del c.5151_5168del (p.Arg1718_Lys1723del) c.5097_5114del (p.Arg1700_Lys1705del) c.5112_5129del (p.Arg1705_Lys1710del) c.5022_5039del (p.Arg1675_Lys1680del) c.5147_5164del n.3310_3327del c.5220_5237del (p.Arg1741_Lys1746del) n.4041_4058del n.2478_2495del n.2449_2466del n.2339_2356del c.4881_4898del (p.Arg1628_Lys1633del) c.*4393_*4410del (n.*4393_*4410del) c.4917_4934del (p.Arg1640_Lys1645del) n.2949_2966del c.1408_1425del n.2341_2358del c.5280_5297del (p.Arg1761_Lys1766del) c.5277_5294del (p.Arg1760_Lys1765del) c.5169_5186del (p.Arg1724_Lys1729del) c.5148_5165del (p.Arg1717_Lys1722del) c.4494_4511del (p.Arg1499_Lys1504del) c.5442_5459del (p.Arg1815_Lys1820del) c.5190_5207del (p.Arg1731_Lys1736del) c.3936_3953del (p.Arg1313_Lys1318del) | ClinVar dbSNP |
| 16 | g.2088292_2088310delinsCCGGCTCCGCCACATCAAG | CA2202032440 | TSC2 | c.*3575_*3593delinsCCGGCTCCGCCACATCAAG (n.*3575_*3593delinsCCGGCTCCGCCACATCAAG) c.5073_5091delinsCCGGCTCCGCCACATCAAG (p.Ala1691=) c.5223_5241delinsCCGGCTCCGCCACATCAAG (p.Ala1741=) c.*5739_*5757delinsCCGGCTCCGCCACATCAAG (n.*5739_*5757delinsCCGGCTCCGCCACATCAAG) c.*7975_*7993delinsCCGGCTCCGCCACATCAAG (n.*7975_*7993delinsCCGGCTCCGCCACATCAAG) c.5226_5244delinsCCGGCTCCGCCACATCAAG (p.Ala1742=) c.5157_5175delinsCCGGCTCCGCCACATCAAG (p.Ala1719=) c.5025_5043delinsCCGGCTCCGCCACATCAAG (p.Ala1675=) c.5058_5076delinsCCGGCTCCGCCACATCAAG (p.Ala1686=) c.1449_1467delinsCCGGCTCCGCCACATCAAG n.3108_3126delinsCCGGCTCCGCCACATCAAG c.3880_3898delinsCCGGCTCCGCCACATCAAG c.5085_5103delinsCCGGCTCCGCCACATCAAG (p.Ala1695=) n.823_841delinsCCGGCTCCGCCACATCAAG c.5028_5046delinsCCGGCTCCGCCACATCAAG (p.Ala1676=) c.5094_5112delinsCCGGCTCCGCCACATCAAG (p.Ala1698=) c.5019_5037delinsCCGGCTCCGCCACATCAAG (p.Ala1673=) n.2874_2892delinsCCGGCTCCGCCACATCAAG c.5151_5169delinsCCGGCTCCGCCACATCAAG (p.Ala1717=) c.5097_5115delinsCCGGCTCCGCCACATCAAG (p.Ala1699=) c.5112_5130delinsCCGGCTCCGCCACATCAAG (p.Ala1704=) c.5022_5040delinsCCGGCTCCGCCACATCAAG (p.Ala1674=) c.5147_5165delinsCCGGCTCCGCCACATCAAG n.3310_3328delinsCCGGCTCCGCCACATCAAG c.5220_5238delinsCCGGCTCCGCCACATCAAG (p.Ala1740=) n.4041_4059delinsCCGGCTCCGCCACATCAAG n.2478_2496delinsCCGGCTCCGCCACATCAAG n.2449_2467delinsCCGGCTCCGCCACATCAAG n.2339_2357delinsCCGGCTCCGCCACATCAAG c.4881_4899delinsCCGGCTCCGCCACATCAAG (p.Ala1627=) c.*4393_*4411delinsCCGGCTCCGCCACATCAAG (n.*4393_*4411delinsCCGGCTCCGCCACATCAAG) c.4917_4935delinsCCGGCTCCGCCACATCAAG (p.Ala1639=) n.2949_2967delinsCCGGCTCCGCCACATCAAG c.1408_1426delinsCCGGCTCCGCCACATCAAG n.2341_2359delinsCCGGCTCCGCCACATCAAG c.5280_5298delinsCCGGCTCCGCCACATCAAG (p.Ala1760=) c.5277_5295delinsCCGGCTCCGCCACATCAAG (p.Ala1759=) c.5169_5187delinsCCGGCTCCGCCACATCAAG (p.Ala1723=) c.5148_5166delinsCCGGCTCCGCCACATCAAG (p.Ala1716=) c.4494_4512delinsCCGGCTCCGCCACATCAAG (p.Ala1498=) c.5442_5460delinsCCGGCTCCGCCACATCAAG (p.Ala1814=) c.5190_5208delinsCCGGCTCCGCCACATCAAG (p.Ala1730=) c.3936_3954delinsCCGGCTCCGCCACATCAAG (p.Ala1312=) | |
| 16 | g.2088293C>A | CA493043825 | TSC2 | c.*3576C>A (n.*3576C>A) c.5074C>A (p.Arg1692=) c.5224C>A (p.Arg1742=) c.*5740C>A (n.*5740C>A) c.*7976C>A (n.*7976C>A) c.5227C>A (p.Arg1743=) c.5158C>A (p.Arg1720=) c.5026C>A (p.Arg1676=) c.5059C>A (p.Arg1687=) c.1450C>A n.3109C>A c.3881C>A c.5086C>A (p.Arg1696=) n.824C>A c.5029C>A (p.Arg1677=) c.5095C>A (p.Arg1699=) c.5020C>A (p.Arg1674=) n.2875C>A c.5152C>A (p.Arg1718=) c.5098C>A (p.Arg1700=) c.5113C>A (p.Arg1705=) c.5023C>A (p.Arg1675=) c.5148C>A n.3311C>A c.5221C>A (p.Arg1741=) n.4042C>A n.2479C>A n.2450C>A n.2340C>A c.4882C>A (p.Arg1628=) c.*4394C>A (n.*4394C>A) c.4918C>A (p.Arg1640=) n.2950C>A c.1409C>A n.2342C>A c.5281C>A (p.Arg1761=) c.5278C>A (p.Arg1760=) c.5170C>A (p.Arg1724=) c.5149C>A (p.Arg1717=) c.4495C>A (p.Arg1499=) c.5443C>A (p.Arg1815=) c.5191C>A (p.Arg1731=) c.3937C>A (p.Arg1313=) | dbSNP |
| 16 | g.2088293C= | CA2202032472 | TSC2 | c.*3576C= (n.*3576C=) c.5074C= (p.Arg1692=) c.5224C= (p.Arg1742=) c.*5740C= (n.*5740C=) c.*7976C= (n.*7976C=) c.5227C= (p.Arg1743=) c.5158C= (p.Arg1720=) c.5026C= (p.Arg1676=) c.5059C= (p.Arg1687=) c.1450C= n.3109C= c.3881C= c.5086C= (p.Arg1696=) n.824C= c.5029C= (p.Arg1677=) c.5095C= (p.Arg1699=) c.5020C= (p.Arg1674=) n.2875C= c.5152C= (p.Arg1718=) c.5098C= (p.Arg1700=) c.5113C= (p.Arg1705=) c.5023C= (p.Arg1675=) c.5148C= n.3311C= c.5221C= (p.Arg1741=) n.4042C= n.2479C= n.2450C= n.2340C= c.4882C= (p.Arg1628=) c.*4394C= (n.*4394C=) c.4918C= (p.Arg1640=) n.2950C= c.1409C= n.2342C= c.5281C= (p.Arg1761=) c.5278C= (p.Arg1760=) c.5170C= (p.Arg1724=) c.5149C= (p.Arg1717=) c.4495C= (p.Arg1499=) c.5443C= (p.Arg1815=) c.5191C= (p.Arg1731=) c.3937C= (p.Arg1313=) | |
| 16 | g.2088293C>G | CA022207 | TSC2 | c.*3576C>G (n.*3576C>G) c.5074C>G (p.Arg1692Gly) c.5224C>G (p.Arg1742Gly) c.*5740C>G (n.*5740C>G) c.*7976C>G (n.*7976C>G) c.5227C>G (p.Arg1743Gly) c.5158C>G (p.Arg1720Gly) c.5026C>G (p.Arg1676Gly) c.5059C>G (p.Arg1687Gly) c.1450C>G n.3109C>G c.3881C>G c.5086C>G (p.Arg1696Gly) n.824C>G c.5029C>G (p.Arg1677Gly) c.5095C>G (p.Arg1699Gly) c.5020C>G (p.Arg1674Gly) n.2875C>G c.5152C>G (p.Arg1718Gly) c.5098C>G (p.Arg1700Gly) c.5113C>G (p.Arg1705Gly) c.5023C>G (p.Arg1675Gly) c.5148C>G n.3311C>G c.5221C>G (p.Arg1741Gly) n.4042C>G n.2479C>G n.2450C>G n.2340C>G c.4882C>G (p.Arg1628Gly) c.*4394C>G (n.*4394C>G) c.4918C>G (p.Arg1640Gly) n.2950C>G c.1409C>G n.2342C>G c.5281C>G (p.Arg1761Gly) c.5278C>G (p.Arg1760Gly) c.5170C>G (p.Arg1724Gly) c.5149C>G (p.Arg1717Gly) c.4495C>G (p.Arg1499Gly) c.5443C>G (p.Arg1815Gly) c.5191C>G (p.Arg1731Gly) c.3937C>G (p.Arg1313Gly) | ClinVar dbSNP |
| 16 | g.2088293C>T | CA022213 | TSC2 | c.*3576C>T (n.*3576C>T) c.5074C>T (p.Arg1692Trp) c.5224C>T (p.Arg1742Trp) c.*5740C>T (n.*5740C>T) c.*7976C>T (n.*7976C>T) c.5227C>T (p.Arg1743Trp) c.5158C>T (p.Arg1720Trp) c.5026C>T (p.Arg1676Trp) c.5059C>T (p.Arg1687Trp) c.1450C>T n.3109C>T c.3881C>T c.5086C>T (p.Arg1696Trp) n.824C>T c.5029C>T (p.Arg1677Trp) c.5095C>T (p.Arg1699Trp) c.5020C>T (p.Arg1674Trp) n.2875C>T c.5152C>T (p.Arg1718Trp) c.5098C>T (p.Arg1700Trp) c.5113C>T (p.Arg1705Trp) c.5023C>T (p.Arg1675Trp) c.5148C>T n.3311C>T c.5221C>T (p.Arg1741Trp) n.4042C>T n.2479C>T n.2450C>T n.2340C>T c.4882C>T (p.Arg1628Trp) c.*4394C>T (n.*4394C>T) c.4918C>T (p.Arg1640Trp) n.2950C>T c.1409C>T n.2342C>T c.5281C>T (p.Arg1761Trp) c.5278C>T (p.Arg1760Trp) c.5170C>T (p.Arg1724Trp) c.5149C>T (p.Arg1717Trp) c.4495C>T (p.Arg1499Trp) c.5443C>T (p.Arg1815Trp) c.5191C>T (p.Arg1731Trp) c.3937C>T (p.Arg1313Trp) | ClinVar dbSNP gnomAD v2 COSMIC COSMIC |
| 16 | g.2088304_2088321dup | CA620705069 | TSC2 | c.*3587_*3604dup (n.*3587_*3604dup) c.5085_5102dup (p.Arg1700_Gln1701insHisIleLysArgLeuArg) c.5235_5252dup (p.Arg1750_Gln1751insHisIleLysArgLeuArg) c.*5751_*5768dup (n.*5751_*5768dup) c.*7987_*8004dup (n.*7987_*8004dup) c.5238_5255dup (p.Arg1751_Gln1752insHisIleLysArgLeuArg) c.5169_5186dup (p.Arg1728_Gln1729insHisIleLysArgLeuArg) c.5037_5054dup (p.Arg1684_Gln1685insHisIleLysArgLeuArg) c.5070_5087dup (p.Arg1695_Gln1696insHisIleLysArgLeuArg) c.1461_1478dup n.3120_3137dup c.3892_3909dup c.5097_5114dup (p.Arg1704_Gln1705insHisIleLysArgLeuArg) n.835_852dup c.5040_5057dup (p.Arg1685_Gln1686insHisIleLysArgLeuArg) c.5106_5123dup (p.Arg1707_Gln1708insHisIleLysArgLeuArg) c.5031_5048dup (p.Arg1682_Gln1683insHisIleLysArgLeuArg) n.2886_2903dup c.5163_5180dup (p.Arg1726_Gln1727insHisIleLysArgLeuArg) c.5109_5126dup (p.Arg1708_Gln1709insHisIleLysArgLeuArg) c.5124_5141dup (p.Arg1713_Gln1714insHisIleLysArgLeuArg) c.5034_5051dup (p.Arg1683_Gln1684insHisIleLysArgLeuArg) c.5159_5176dup n.3322_3339dup c.5232_5249dup (p.Arg1749_Gln1750insHisIleLysArgLeuArg) n.4053_4070dup n.2490_2507dup n.2461_2478dup n.2351_2368dup c.4893_4910dup (p.Arg1636_Gln1637insHisIleLysArgLeuArg) c.*4405_*4422dup (n.*4405_*4422dup) c.4929_4946dup (p.Arg1648_Gln1649insHisIleLysArgLeuArg) n.2961_2978dup c.1420_1437dup n.2353_2370dup c.5292_5309dup (p.Arg1769_Gln1770insHisIleLysArgLeuArg) c.5289_5306dup (p.Arg1768_Gln1769insHisIleLysArgLeuArg) c.5181_5198dup (p.Arg1732_Gln1733insHisIleLysArgLeuArg) c.5160_5177dup (p.Arg1725_Gln1726insHisIleLysArgLeuArg) c.4506_4523dup (p.Arg1507_Gln1508insHisIleLysArgLeuArg) c.5454_5471dup (p.Arg1823_Gln1824insHisIleLysArgLeuArg) c.5202_5219dup (p.Arg1739_Gln1740insHisIleLysArgLeuArg) c.3948_3965dup (p.Arg1321_Gln1322insHisIleLysArgLeuArg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2088304_2088321del | CA022197 | TSC2 | c.*3587_*3604del (n.*3587_*3604del) c.5085_5102del (p.His1695_Arg1700del) c.5235_5252del (p.His1745_Arg1750del) c.*5751_*5768del (n.*5751_*5768del) c.*7987_*8004del (n.*7987_*8004del) c.5238_5255del (p.His1746_Arg1751del) c.5169_5186del (p.His1723_Arg1728del) c.5037_5054del (p.His1679_Arg1684del) c.5070_5087del (p.His1690_Arg1695del) c.1461_1478del n.3120_3137del c.3892_3909del c.5097_5114del (p.His1699_Arg1704del) n.835_852del c.5040_5057del (p.His1680_Arg1685del) c.5106_5123del (p.His1702_Arg1707del) c.5031_5048del (p.His1677_Arg1682del) n.2886_2903del c.5163_5180del (p.His1721_Arg1726del) c.5109_5126del (p.His1703_Arg1708del) c.5124_5141del (p.His1708_Arg1713del) c.5034_5051del (p.His1678_Arg1683del) c.5159_5176del n.3322_3339del c.5232_5249del (p.His1744_Arg1749del) n.4053_4070del n.2490_2507del n.2461_2478del n.2351_2368del c.4893_4910del (p.His1631_Arg1636del) c.*4405_*4422del (n.*4405_*4422del) c.4929_4946del (p.His1643_Arg1648del) n.2961_2978del c.1420_1437del n.2353_2370del c.5292_5309del (p.His1764_Arg1769del) c.5289_5306del (p.His1763_Arg1768del) c.5181_5198del (p.His1727_Arg1732del) c.5160_5177del (p.His1720_Arg1725del) c.4506_4523del (p.His1502_Arg1507del) c.5454_5471del (p.His1818_Arg1823del) c.5202_5219del (p.His1734_Arg1739del) c.3948_3965del (p.His1316_Arg1321del) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.2088294G>A | CA022218 | TSC2 | c.*3577G>A (n.*3577G>A) c.5075G>A (p.Arg1692Gln) c.5225G>A (p.Arg1742Gln) c.*5741G>A (n.*5741G>A) c.*7977G>A (n.*7977G>A) c.5228G>A (p.Arg1743Gln) c.5159G>A (p.Arg1720Gln) c.5027G>A (p.Arg1676Gln) c.5060G>A (p.Arg1687Gln) c.1451G>A n.3110G>A c.3882G>A c.5087G>A (p.Arg1696Gln) n.825G>A c.5030G>A (p.Arg1677Gln) c.5096G>A (p.Arg1699Gln) c.5021G>A (p.Arg1674Gln) n.2876G>A c.5153G>A (p.Arg1718Gln) c.5099G>A (p.Arg1700Gln) c.5114G>A (p.Arg1705Gln) c.5024G>A (p.Arg1675Gln) c.5149G>A n.3312G>A c.5222G>A (p.Arg1741Gln) n.4043G>A n.2480G>A n.2451G>A n.2341G>A c.4883G>A (p.Arg1628Gln) c.*4395G>A (n.*4395G>A) c.4919G>A (p.Arg1640Gln) n.2951G>A c.1410G>A n.2343G>A c.5282G>A (p.Arg1761Gln) c.5279G>A (p.Arg1760Gln) c.5171G>A (p.Arg1724Gln) c.5150G>A (p.Arg1717Gln) c.4496G>A (p.Arg1499Gln) c.5444G>A (p.Arg1815Gln) c.5192G>A (p.Arg1731Gln) c.3938G>A (p.Arg1313Gln) | ClinVar dbSNP gnomAD v2 COSMIC |
| 16 | g.2088294G>C | CA022224 | TSC2 | c.*3577G>C (n.*3577G>C) c.5075G>C (p.Arg1692Pro) c.5225G>C (p.Arg1742Pro) c.*5741G>C (n.*5741G>C) c.*7977G>C (n.*7977G>C) c.5228G>C (p.Arg1743Pro) c.5159G>C (p.Arg1720Pro) c.5027G>C (p.Arg1676Pro) c.5060G>C (p.Arg1687Pro) c.1451G>C n.3110G>C c.3882G>C c.5087G>C (p.Arg1696Pro) n.825G>C c.5030G>C (p.Arg1677Pro) c.5096G>C (p.Arg1699Pro) c.5021G>C (p.Arg1674Pro) n.2876G>C c.5153G>C (p.Arg1718Pro) c.5099G>C (p.Arg1700Pro) c.5114G>C (p.Arg1705Pro) c.5024G>C (p.Arg1675Pro) c.5149G>C n.3312G>C c.5222G>C (p.Arg1741Pro) n.4043G>C n.2480G>C n.2451G>C n.2341G>C c.4883G>C (p.Arg1628Pro) c.*4395G>C (n.*4395G>C) c.4919G>C (p.Arg1640Pro) n.2951G>C c.1410G>C n.2343G>C c.5282G>C (p.Arg1761Pro) c.5279G>C (p.Arg1760Pro) c.5171G>C (p.Arg1724Pro) c.5150G>C (p.Arg1717Pro) c.4496G>C (p.Arg1499Pro) c.5444G>C (p.Arg1815Pro) c.5192G>C (p.Arg1731Pro) c.3938G>C (p.Arg1313Pro) | ClinVar dbSNP |
| 16 | g.2088294G= | CA2202032481 | TSC2 | c.*3577G= (n.*3577G=) c.5075G= (p.Arg1692=) c.5225G= (p.Arg1742=) c.*5741G= (n.*5741G=) c.*7977G= (n.*7977G=) c.5228G= (p.Arg1743=) c.5159G= (p.Arg1720=) c.5027G= (p.Arg1676=) c.5060G= (p.Arg1687=) c.1451G= n.3110G= c.3882G= c.5087G= (p.Arg1696=) n.825G= c.5030G= (p.Arg1677=) c.5096G= (p.Arg1699=) c.5021G= (p.Arg1674=) n.2876G= c.5153G= (p.Arg1718=) c.5099G= (p.Arg1700=) c.5114G= (p.Arg1705=) c.5024G= (p.Arg1675=) c.5149G= n.3312G= c.5222G= (p.Arg1741=) n.4043G= n.2480G= n.2451G= n.2341G= c.4883G= (p.Arg1628=) c.*4395G= (n.*4395G=) c.4919G= (p.Arg1640=) n.2951G= c.1410G= n.2343G= c.5282G= (p.Arg1761=) c.5279G= (p.Arg1760=) c.5171G= (p.Arg1724=) c.5150G= (p.Arg1717=) c.4496G= (p.Arg1499=) c.5444G= (p.Arg1815=) c.5192G= (p.Arg1731=) c.3938G= (p.Arg1313=) | |
| 16 | g.2088294G>T | CA022229 | TSC2 | c.*3577G>T (n.*3577G>T) c.5075G>T (p.Arg1692Leu) c.5225G>T (p.Arg1742Leu) c.*5741G>T (n.*5741G>T) c.*7977G>T (n.*7977G>T) c.5228G>T (p.Arg1743Leu) c.5159G>T (p.Arg1720Leu) c.5027G>T (p.Arg1676Leu) c.5060G>T (p.Arg1687Leu) c.1451G>T n.3110G>T c.3882G>T c.5087G>T (p.Arg1696Leu) n.825G>T c.5030G>T (p.Arg1677Leu) c.5096G>T (p.Arg1699Leu) c.5021G>T (p.Arg1674Leu) n.2876G>T c.5153G>T (p.Arg1718Leu) c.5099G>T (p.Arg1700Leu) c.5114G>T (p.Arg1705Leu) c.5024G>T (p.Arg1675Leu) c.5149G>T n.3312G>T c.5222G>T (p.Arg1741Leu) n.4043G>T n.2480G>T n.2451G>T n.2341G>T c.4883G>T (p.Arg1628Leu) c.*4395G>T (n.*4395G>T) c.4919G>T (p.Arg1640Leu) n.2951G>T c.1410G>T n.2343G>T c.5282G>T (p.Arg1761Leu) c.5279G>T (p.Arg1760Leu) c.5171G>T (p.Arg1724Leu) c.5150G>T (p.Arg1717Leu) c.4496G>T (p.Arg1499Leu) c.5444G>T (p.Arg1815Leu) c.5192G>T (p.Arg1731Leu) c.3938G>T (p.Arg1313Leu) | ClinVar dbSNP |
| 16 | g.2088294_2088295delinsAA | CA645572657 | TSC2 | c.*3577_*3578delinsAA (n.*3577_*3578delinsAA) c.5075_5076delinsAA (p.Arg1692Gln) c.5225_5226delinsAA (p.Arg1742Gln) c.*5741_*5742delinsAA (n.*5741_*5742delinsAA) c.*7977_*7978delinsAA (n.*7977_*7978delinsAA) c.5228_5229delinsAA (p.Arg1743Gln) c.5159_5160delinsAA (p.Arg1720Gln) c.5027_5028delinsAA (p.Arg1676Gln) c.5060_5061delinsAA (p.Arg1687Gln) c.1451_1452delinsAA n.3110_3111delinsAA c.3882_3883delinsAA c.5087_5088delinsAA (p.Arg1696Gln) n.825_826delinsAA c.5030_5031delinsAA (p.Arg1677Gln) c.5096_5097delinsAA (p.Arg1699Gln) c.5021_5022delinsAA (p.Arg1674Gln) n.2876_2877delinsAA c.5153_5154delinsAA (p.Arg1718Gln) c.5099_5100delinsAA (p.Arg1700Gln) c.5114_5115delinsAA (p.Arg1705Gln) c.5024_5025delinsAA (p.Arg1675Gln) c.5149_5150delinsAA n.3312_3313delinsAA c.5222_5223delinsAA (p.Arg1741Gln) n.4043_4044delinsAA n.2480_2481delinsAA n.2451_2452delinsAA n.2341_2342delinsAA c.4883_4884delinsAA (p.Arg1628Gln) c.*4395_*4396delinsAA (n.*4395_*4396delinsAA) c.4919_4920delinsAA (p.Arg1640Gln) n.2951_2952delinsAA c.1410_1411delinsAA n.2343_2344delinsAA c.5282_5283delinsAA (p.Arg1761Gln) c.5279_5280delinsAA (p.Arg1760Gln) c.5171_5172delinsAA (p.Arg1724Gln) c.5150_5151delinsAA (p.Arg1717Gln) c.4496_4497delinsAA (p.Arg1499Gln) c.5444_5445delinsAA (p.Arg1815Gln) c.5192_5193delinsAA (p.Arg1731Gln) c.3938_3939delinsAA (p.Arg1313Gln) | COSMIC |