| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.115035218C>A | CA374626421 | TNC | c.3862G>T (p.Asp1288Tyr) c.4684G>T (p.Asp1562Tyr) c.2716G>T (p.Asp906Tyr) c.1372G>T (p.Asp458Tyr) c.4731G>T c.5773G>T (p.Asp1925Tyr) c.5227G>T (p.Asp1743Tyr) c.4954G>T (p.Asp1652Tyr) n.355G>T c.1460G>T c.5500G>T (p.Asp1834Tyr) c.4681G>T (p.Asp1561Tyr) c.4135G>T (p.Asp1379Tyr) c.6049G>T (p.Asp2017Tyr) c.5776G>T (p.Asp1926Tyr) c.5230G>T (p.Asp1744Tyr) c.4957G>T (p.Asp1653Tyr) c.4408G>T (p.Asp1470Tyr) c.6322G>T (p.Asp2108Tyr) c.6046G>T (p.Asp2016Tyr) | |
| 9 | g.115035218C>G | CA374626422 | TNC | c.3862G>C (p.Asp1288His) c.4684G>C (p.Asp1562His) c.2716G>C (p.Asp906His) c.1372G>C (p.Asp458His) c.4731G>C c.5773G>C (p.Asp1925His) c.5227G>C (p.Asp1743His) c.4954G>C (p.Asp1652His) n.355G>C c.1460G>C c.5500G>C (p.Asp1834His) c.4681G>C (p.Asp1561His) c.4135G>C (p.Asp1379His) c.6049G>C (p.Asp2017His) c.5776G>C (p.Asp1926His) c.5230G>C (p.Asp1744His) c.4957G>C (p.Asp1653His) c.4408G>C (p.Asp1470His) c.6322G>C (p.Asp2108His) c.6046G>C (p.Asp2016His) | gnomAD v4 |
| 9 | g.115035218C>T | CA374626423 | TNC | c.3862G>A (p.Asp1288Asn) c.4684G>A (p.Asp1562Asn) c.2716G>A (p.Asp906Asn) c.1372G>A (p.Asp458Asn) c.4731G>A c.5773G>A (p.Asp1925Asn) c.5227G>A (p.Asp1743Asn) c.4954G>A (p.Asp1652Asn) n.355G>A c.1460G>A c.5500G>A (p.Asp1834Asn) c.4681G>A (p.Asp1561Asn) c.4135G>A (p.Asp1379Asn) c.6049G>A (p.Asp2017Asn) c.5776G>A (p.Asp1926Asn) c.5230G>A (p.Asp1744Asn) c.4957G>A (p.Asp1653Asn) c.4408G>A (p.Asp1470Asn) c.6322G>A (p.Asp2108Asn) c.6046G>A (p.Asp2016Asn) | gnomAD v4 |
| 9 | g.115035219C>A | CA466790004 | TNC | c.3861G>T (p.Val1287=) c.4683G>T (p.Val1561=) c.2715G>T (p.Val905=) c.1371G>T (p.Val457=) c.4730G>T c.5772G>T (p.Val1924=) c.5226G>T (p.Val1742=) c.4953G>T (p.Val1651=) n.354G>T c.1459G>T c.5499G>T (p.Val1833=) c.4680G>T (p.Val1560=) c.4134G>T (p.Val1378=) c.6048G>T (p.Val2016=) c.5775G>T (p.Val1925=) c.5229G>T (p.Val1743=) c.4956G>T (p.Val1652=) c.4407G>T (p.Val1469=) c.6321G>T (p.Val2107=) c.6045G>T (p.Val2015=) | |
| 9 | g.115035219C>G | CA466790005 | TNC | c.3861G>C (p.Val1287=) c.4683G>C (p.Val1561=) c.2715G>C (p.Val905=) c.1371G>C (p.Val457=) c.4730G>C c.5772G>C (p.Val1924=) c.5226G>C (p.Val1742=) c.4953G>C (p.Val1651=) n.354G>C c.1459G>C c.5499G>C (p.Val1833=) c.4680G>C (p.Val1560=) c.4134G>C (p.Val1378=) c.6048G>C (p.Val2016=) c.5775G>C (p.Val1925=) c.5229G>C (p.Val1743=) c.4956G>C (p.Val1652=) c.4407G>C (p.Val1469=) c.6321G>C (p.Val2107=) c.6045G>C (p.Val2015=) | |
| 9 | g.115035219C>T | CA466790006 | TNC | c.3861G>A (p.Val1287=) c.4683G>A (p.Val1561=) c.2715G>A (p.Val905=) c.1371G>A (p.Val457=) c.4730G>A c.5772G>A (p.Val1924=) c.5226G>A (p.Val1742=) c.4953G>A (p.Val1651=) n.354G>A c.1459G>A c.5499G>A (p.Val1833=) c.4680G>A (p.Val1560=) c.4134G>A (p.Val1378=) c.6048G>A (p.Val2016=) c.5775G>A (p.Val1925=) c.5229G>A (p.Val1743=) c.4956G>A (p.Val1652=) c.4407G>A (p.Val1469=) c.6321G>A (p.Val2107=) c.6045G>A (p.Val2015=) | gnomAD v4 |
| 9 | g.115035220A>C | CA374626425 | TNC | c.3860T>G (p.Val1287Gly) c.4682T>G (p.Val1561Gly) c.2714T>G (p.Val905Gly) c.1370T>G (p.Val457Gly) c.4729T>G c.5771T>G (p.Val1924Gly) c.5225T>G (p.Val1742Gly) c.4952T>G (p.Val1651Gly) n.353T>G c.1458T>G c.5498T>G (p.Val1833Gly) c.4679T>G (p.Val1560Gly) c.4133T>G (p.Val1378Gly) c.6047T>G (p.Val2016Gly) c.5774T>G (p.Val1925Gly) c.5228T>G (p.Val1743Gly) c.4955T>G (p.Val1652Gly) c.4406T>G (p.Val1469Gly) c.6320T>G (p.Val2107Gly) c.6044T>G (p.Val2015Gly) | |
| 9 | g.115035220A>G | CA374626426 | TNC | c.3860T>C (p.Val1287Ala) c.4682T>C (p.Val1561Ala) c.2714T>C (p.Val905Ala) c.1370T>C (p.Val457Ala) c.4729T>C c.5771T>C (p.Val1924Ala) c.5225T>C (p.Val1742Ala) c.4952T>C (p.Val1651Ala) n.353T>C c.1458T>C c.5498T>C (p.Val1833Ala) c.4679T>C (p.Val1560Ala) c.4133T>C (p.Val1378Ala) c.6047T>C (p.Val2016Ala) c.5774T>C (p.Val1925Ala) c.5228T>C (p.Val1743Ala) c.4955T>C (p.Val1652Ala) c.4406T>C (p.Val1469Ala) c.6320T>C (p.Val2107Ala) c.6044T>C (p.Val2015Ala) | |
| 9 | g.115035220A>T | CA374626424 | TNC | c.3860T>A (p.Val1287Glu) c.4682T>A (p.Val1561Glu) c.2714T>A (p.Val905Glu) c.1370T>A (p.Val457Glu) c.4729T>A c.5771T>A (p.Val1924Glu) c.5225T>A (p.Val1742Glu) c.4952T>A (p.Val1651Glu) n.353T>A c.1458T>A c.5498T>A (p.Val1833Glu) c.4679T>A (p.Val1560Glu) c.4133T>A (p.Val1378Glu) c.6047T>A (p.Val2016Glu) c.5774T>A (p.Val1925Glu) c.5228T>A (p.Val1743Glu) c.4955T>A (p.Val1652Glu) c.4406T>A (p.Val1469Glu) c.6320T>A (p.Val2107Glu) c.6044T>A (p.Val2015Glu) | |
| 9 | g.115035221C>A | CA374626428 | TNC | c.3859G>T (p.Val1287Leu) c.4681G>T (p.Val1561Leu) c.2713G>T (p.Val905Leu) c.1369G>T (p.Val457Leu) c.4728G>T c.5770G>T (p.Val1924Leu) c.5224G>T (p.Val1742Leu) c.4951G>T (p.Val1651Leu) n.352G>T c.1457G>T c.5497G>T (p.Val1833Leu) c.4678G>T (p.Val1560Leu) c.4132G>T (p.Val1378Leu) c.6046G>T (p.Val2016Leu) c.5773G>T (p.Val1925Leu) c.5227G>T (p.Val1743Leu) c.4954G>T (p.Val1652Leu) c.4405G>T (p.Val1469Leu) c.6319G>T (p.Val2107Leu) c.6043G>T (p.Val2015Leu) | |
| 9 | g.115035221C>G | CA374626427 | TNC | c.3859G>C (p.Val1287Leu) c.4681G>C (p.Val1561Leu) c.2713G>C (p.Val905Leu) c.1369G>C (p.Val457Leu) c.4728G>C c.5770G>C (p.Val1924Leu) c.5224G>C (p.Val1742Leu) c.4951G>C (p.Val1651Leu) n.352G>C c.1457G>C c.5497G>C (p.Val1833Leu) c.4678G>C (p.Val1560Leu) c.4132G>C (p.Val1378Leu) c.6046G>C (p.Val2016Leu) c.5773G>C (p.Val1925Leu) c.5227G>C (p.Val1743Leu) c.4954G>C (p.Val1652Leu) c.4405G>C (p.Val1469Leu) c.6319G>C (p.Val2107Leu) c.6043G>C (p.Val2015Leu) | |
| 9 | g.115035221C>T | CA374626429 | TNC | c.3859G>A (p.Val1287Met) c.4681G>A (p.Val1561Met) c.2713G>A (p.Val905Met) c.1369G>A (p.Val457Met) c.4728G>A c.5770G>A (p.Val1924Met) c.5224G>A (p.Val1742Met) c.4951G>A (p.Val1651Met) n.352G>A c.1457G>A c.5497G>A (p.Val1833Met) c.4678G>A (p.Val1560Met) c.4132G>A (p.Val1378Met) c.6046G>A (p.Val2016Met) c.5773G>A (p.Val1925Met) c.5227G>A (p.Val1743Met) c.4954G>A (p.Val1652Met) c.4405G>A (p.Val1469Met) c.6319G>A (p.Val2107Met) c.6043G>A (p.Val2015Met) | dbSNP |
| 9 | g.115035222T>A | CA466790007 | TNC | c.3858A>T (p.Ser1286=) c.4680A>T (p.Ser1560=) c.2712A>T (p.Ser904=) c.1368A>T (p.Ser456=) c.4727A>T c.5769A>T (p.Ser1923=) c.5223A>T (p.Ser1741=) c.4950A>T (p.Ser1650=) n.351A>T c.1456A>T c.5496A>T (p.Ser1832=) c.4677A>T (p.Ser1559=) c.4131A>T (p.Ser1377=) c.6045A>T (p.Ser2015=) c.5772A>T (p.Ser1924=) c.5226A>T (p.Ser1742=) c.4953A>T (p.Ser1651=) c.4404A>T (p.Ser1468=) c.6318A>T (p.Ser2106=) c.6042A>T (p.Ser2014=) | |
| 9 | g.115035222T>C | CA466790008 | TNC | c.3858A>G (p.Ser1286=) c.4680A>G (p.Ser1560=) c.2712A>G (p.Ser904=) c.1368A>G (p.Ser456=) c.4727A>G c.5769A>G (p.Ser1923=) c.5223A>G (p.Ser1741=) c.4950A>G (p.Ser1650=) n.351A>G c.1456A>G c.5496A>G (p.Ser1832=) c.4677A>G (p.Ser1559=) c.4131A>G (p.Ser1377=) c.6045A>G (p.Ser2015=) c.5772A>G (p.Ser1924=) c.5226A>G (p.Ser1742=) c.4953A>G (p.Ser1651=) c.4404A>G (p.Ser1468=) c.6318A>G (p.Ser2106=) c.6042A>G (p.Ser2014=) | |
| 9 | g.115035222T>G | CA198682408 | TNC | c.3858A>C (p.Ser1286=) c.4680A>C (p.Ser1560=) c.2712A>C (p.Ser904=) c.1368A>C (p.Ser456=) c.4727A>C c.5769A>C (p.Ser1923=) c.5223A>C (p.Ser1741=) c.4950A>C (p.Ser1650=) n.351A>C c.1456A>C c.5496A>C (p.Ser1832=) c.4677A>C (p.Ser1559=) c.4131A>C (p.Ser1377=) c.6045A>C (p.Ser2015=) c.5772A>C (p.Ser1924=) c.5226A>C (p.Ser1742=) c.4953A>C (p.Ser1651=) c.4404A>C (p.Ser1468=) c.6318A>C (p.Ser2106=) c.6042A>C (p.Ser2014=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.115035222T= | CA1874113732 | TNC | c.3858A= (p.Ser1286=) c.4680A= (p.Ser1560=) c.2712A= (p.Ser904=) c.1368A= (p.Ser456=) c.4727A= c.5769A= (p.Ser1923=) c.5223A= (p.Ser1741=) c.4950A= (p.Ser1650=) n.351A= c.1456A= c.5496A= (p.Ser1832=) c.4677A= (p.Ser1559=) c.4131A= (p.Ser1377=) c.6045A= (p.Ser2015=) c.5772A= (p.Ser1924=) c.5226A= (p.Ser1742=) c.4953A= (p.Ser1651=) c.4404A= (p.Ser1468=) c.6318A= (p.Ser2106=) c.6042A= (p.Ser2014=) | |
| 9 | g.115035223G>A | CA5207540 | TNC | c.3857C>T (p.Ser1286Leu) c.4679C>T (p.Ser1560Leu) c.2711C>T (p.Ser904Leu) c.1367C>T (p.Ser456Leu) c.4726C>T c.5768C>T (p.Ser1923Leu) c.5222C>T (p.Ser1741Leu) c.4949C>T (p.Ser1650Leu) n.350C>T c.1455C>T c.5495C>T (p.Ser1832Leu) c.4676C>T (p.Ser1559Leu) c.4130C>T (p.Ser1377Leu) c.6044C>T (p.Ser2015Leu) c.5771C>T (p.Ser1924Leu) c.5225C>T (p.Ser1742Leu) c.4952C>T (p.Ser1651Leu) c.4403C>T (p.Ser1468Leu) c.6317C>T (p.Ser2106Leu) c.6041C>T (p.Ser2014Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.115035223G>C | CA374626430 | TNC | c.3857C>G (p.Ser1286Ter) c.4679C>G (p.Ser1560Ter) c.2711C>G (p.Ser904Ter) c.1367C>G (p.Ser456Ter) c.4726C>G c.5768C>G (p.Ser1923Ter) c.5222C>G (p.Ser1741Ter) c.4949C>G (p.Ser1650Ter) n.350C>G c.1455C>G c.5495C>G (p.Ser1832Ter) c.4676C>G (p.Ser1559Ter) c.4130C>G (p.Ser1377Ter) c.6044C>G (p.Ser2015Ter) c.5771C>G (p.Ser1924Ter) c.5225C>G (p.Ser1742Ter) c.4952C>G (p.Ser1651Ter) c.4403C>G (p.Ser1468Ter) c.6317C>G (p.Ser2106Ter) c.6041C>G (p.Ser2014Ter) | |
| 9 | g.115035223G= | CA1874113733 | TNC | c.3857C= (p.Ser1286=) c.4679C= (p.Ser1560=) c.2711C= (p.Ser904=) c.1367C= (p.Ser456=) c.4726C= c.5768C= (p.Ser1923=) c.5222C= (p.Ser1741=) c.4949C= (p.Ser1650=) n.350C= c.1455C= c.5495C= (p.Ser1832=) c.4676C= (p.Ser1559=) c.4130C= (p.Ser1377=) c.6044C= (p.Ser2015=) c.5771C= (p.Ser1924=) c.5225C= (p.Ser1742=) c.4952C= (p.Ser1651=) c.4403C= (p.Ser1468=) c.6317C= (p.Ser2106=) c.6041C= (p.Ser2014=) | |
| 9 | g.115035223G>T | CA374626431 | TNC | c.3857C>A (p.Ser1286Ter) c.4679C>A (p.Ser1560Ter) c.2711C>A (p.Ser904Ter) c.1367C>A (p.Ser456Ter) c.4726C>A c.5768C>A (p.Ser1923Ter) c.5222C>A (p.Ser1741Ter) c.4949C>A (p.Ser1650Ter) n.350C>A c.1455C>A c.5495C>A (p.Ser1832Ter) c.4676C>A (p.Ser1559Ter) c.4130C>A (p.Ser1377Ter) c.6044C>A (p.Ser2015Ter) c.5771C>A (p.Ser1924Ter) c.5225C>A (p.Ser1742Ter) c.4952C>A (p.Ser1651Ter) c.4403C>A (p.Ser1468Ter) c.6317C>A (p.Ser2106Ter) c.6041C>A (p.Ser2014Ter) | |
| 9 | g.115035224A>C | CA374626432 | TNC | c.3856T>G (p.Ser1286Ala) c.4678T>G (p.Ser1560Ala) c.2710T>G (p.Ser904Ala) c.1366T>G (p.Ser456Ala) c.4725T>G c.5767T>G (p.Ser1923Ala) c.5221T>G (p.Ser1741Ala) c.4948T>G (p.Ser1650Ala) n.349T>G c.1454T>G c.5494T>G (p.Ser1832Ala) c.4675T>G (p.Ser1559Ala) c.4129T>G (p.Ser1377Ala) c.6043T>G (p.Ser2015Ala) c.5770T>G (p.Ser1924Ala) c.5224T>G (p.Ser1742Ala) c.4951T>G (p.Ser1651Ala) c.4402T>G (p.Ser1468Ala) c.6316T>G (p.Ser2106Ala) c.6040T>G (p.Ser2014Ala) | |
| 9 | g.115035224A>G | CA374626433 | TNC | c.3856T>C (p.Ser1286Pro) c.4678T>C (p.Ser1560Pro) c.2710T>C (p.Ser904Pro) c.1366T>C (p.Ser456Pro) c.4725T>C c.5767T>C (p.Ser1923Pro) c.5221T>C (p.Ser1741Pro) c.4948T>C (p.Ser1650Pro) n.349T>C c.1454T>C c.5494T>C (p.Ser1832Pro) c.4675T>C (p.Ser1559Pro) c.4129T>C (p.Ser1377Pro) c.6043T>C (p.Ser2015Pro) c.5770T>C (p.Ser1924Pro) c.5224T>C (p.Ser1742Pro) c.4951T>C (p.Ser1651Pro) c.4402T>C (p.Ser1468Pro) c.6316T>C (p.Ser2106Pro) c.6040T>C (p.Ser2014Pro) | |
| 9 | g.115035224A>T | CA374626434 | TNC | c.3856T>A (p.Ser1286Thr) c.4678T>A (p.Ser1560Thr) c.2710T>A (p.Ser904Thr) c.1366T>A (p.Ser456Thr) c.4725T>A c.5767T>A (p.Ser1923Thr) c.5221T>A (p.Ser1741Thr) c.4948T>A (p.Ser1650Thr) n.349T>A c.1454T>A c.5494T>A (p.Ser1832Thr) c.4675T>A (p.Ser1559Thr) c.4129T>A (p.Ser1377Thr) c.6043T>A (p.Ser2015Thr) c.5770T>A (p.Ser1924Thr) c.5224T>A (p.Ser1742Thr) c.4951T>A (p.Ser1651Thr) c.4402T>A (p.Ser1468Thr) c.6316T>A (p.Ser2106Thr) c.6040T>A (p.Ser2014Thr) | |
| 9 | g.115035225T>A | CA374626435 | TNC | c.3855A>T (p.Glu1285Asp) c.4677A>T (p.Glu1559Asp) c.2709A>T (p.Glu903Asp) c.1365A>T (p.Glu455Asp) c.4724A>T c.5766A>T (p.Glu1922Asp) c.5220A>T (p.Glu1740Asp) c.4947A>T (p.Glu1649Asp) n.348A>T c.1453A>T c.5493A>T (p.Glu1831Asp) c.4674A>T (p.Glu1558Asp) c.4128A>T (p.Glu1376Asp) c.6042A>T (p.Glu2014Asp) c.5769A>T (p.Glu1923Asp) c.5223A>T (p.Glu1741Asp) c.4950A>T (p.Glu1650Asp) c.4401A>T (p.Glu1467Asp) c.6315A>T (p.Glu2105Asp) c.6039A>T (p.Glu2013Asp) | |
| 9 | g.115035225T>C | CA466790010 | TNC | c.3855A>G (p.Glu1285=) c.4677A>G (p.Glu1559=) c.2709A>G (p.Glu903=) c.1365A>G (p.Glu455=) c.4724A>G c.5766A>G (p.Glu1922=) c.5220A>G (p.Glu1740=) c.4947A>G (p.Glu1649=) n.348A>G c.1453A>G c.5493A>G (p.Glu1831=) c.4674A>G (p.Glu1558=) c.4128A>G (p.Glu1376=) c.6042A>G (p.Glu2014=) c.5769A>G (p.Glu1923=) c.5223A>G (p.Glu1741=) c.4950A>G (p.Glu1650=) c.4401A>G (p.Glu1467=) c.6315A>G (p.Glu2105=) c.6039A>G (p.Glu2013=) | gnomAD v4 |
| 9 | g.115035225T>G | CA374626436 | TNC | c.3855A>C (p.Glu1285Asp) c.4677A>C (p.Glu1559Asp) c.2709A>C (p.Glu903Asp) c.1365A>C (p.Glu455Asp) c.4724A>C c.5766A>C (p.Glu1922Asp) c.5220A>C (p.Glu1740Asp) c.4947A>C (p.Glu1649Asp) n.348A>C c.1453A>C c.5493A>C (p.Glu1831Asp) c.4674A>C (p.Glu1558Asp) c.4128A>C (p.Glu1376Asp) c.6042A>C (p.Glu2014Asp) c.5769A>C (p.Glu1923Asp) c.5223A>C (p.Glu1741Asp) c.4950A>C (p.Glu1650Asp) c.4401A>C (p.Glu1467Asp) c.6315A>C (p.Glu2105Asp) c.6039A>C (p.Glu2013Asp) | |
| 9 | g.115035226T>A | CA374626437 | TNC | c.3854A>T (p.Glu1285Val) c.4676A>T (p.Glu1559Val) c.2708A>T (p.Glu903Val) c.1364A>T (p.Glu455Val) c.4723A>T c.5765A>T (p.Glu1922Val) c.5219A>T (p.Glu1740Val) c.4946A>T (p.Glu1649Val) n.347A>T c.1452A>T c.5492A>T (p.Glu1831Val) c.4673A>T (p.Glu1558Val) c.4127A>T (p.Glu1376Val) c.6041A>T (p.Glu2014Val) c.5768A>T (p.Glu1923Val) c.5222A>T (p.Glu1741Val) c.4949A>T (p.Glu1650Val) c.4400A>T (p.Glu1467Val) c.6314A>T (p.Glu2105Val) c.6038A>T (p.Glu2013Val) | |
| 9 | g.115035226T>C | CA374626438 | TNC | c.3854A>G (p.Glu1285Gly) c.4676A>G (p.Glu1559Gly) c.2708A>G (p.Glu903Gly) c.1364A>G (p.Glu455Gly) c.4723A>G c.5765A>G (p.Glu1922Gly) c.5219A>G (p.Glu1740Gly) c.4946A>G (p.Glu1649Gly) n.347A>G c.1452A>G c.5492A>G (p.Glu1831Gly) c.4673A>G (p.Glu1558Gly) c.4127A>G (p.Glu1376Gly) c.6041A>G (p.Glu2014Gly) c.5768A>G (p.Glu1923Gly) c.5222A>G (p.Glu1741Gly) c.4949A>G (p.Glu1650Gly) c.4400A>G (p.Glu1467Gly) c.6314A>G (p.Glu2105Gly) c.6038A>G (p.Glu2013Gly) | |
| 9 | g.115035226T>G | CA374626439 | TNC | c.3854A>C (p.Glu1285Ala) c.4676A>C (p.Glu1559Ala) c.2708A>C (p.Glu903Ala) c.1364A>C (p.Glu455Ala) c.4723A>C c.5765A>C (p.Glu1922Ala) c.5219A>C (p.Glu1740Ala) c.4946A>C (p.Glu1649Ala) n.347A>C c.1452A>C c.5492A>C (p.Glu1831Ala) c.4673A>C (p.Glu1558Ala) c.4127A>C (p.Glu1376Ala) c.6041A>C (p.Glu2014Ala) c.5768A>C (p.Glu1923Ala) c.5222A>C (p.Glu1741Ala) c.4949A>C (p.Glu1650Ala) c.4400A>C (p.Glu1467Ala) c.6314A>C (p.Glu2105Ala) c.6038A>C (p.Glu2013Ala) | |
| 9 | g.115035227C>A | CA374626442 | TNC | c.3853G>T (p.Glu1285Ter) c.4675G>T (p.Glu1559Ter) c.2707G>T (p.Glu903Ter) c.1363G>T (p.Glu455Ter) c.4722G>T c.5764G>T (p.Glu1922Ter) c.5218G>T (p.Glu1740Ter) c.4945G>T (p.Glu1649Ter) n.346G>T c.1451G>T c.5491G>T (p.Glu1831Ter) c.4672G>T (p.Glu1558Ter) c.4126G>T (p.Glu1376Ter) c.6040G>T (p.Glu2014Ter) c.5767G>T (p.Glu1923Ter) c.5221G>T (p.Glu1741Ter) c.4948G>T (p.Glu1650Ter) c.4399G>T (p.Glu1467Ter) c.6313G>T (p.Glu2105Ter) c.6037G>T (p.Glu2013Ter) | |
| 9 | g.115035227C>G | CA374626441 | TNC | c.3853G>C (p.Glu1285Gln) c.4675G>C (p.Glu1559Gln) c.2707G>C (p.Glu903Gln) c.1363G>C (p.Glu455Gln) c.4722G>C c.5764G>C (p.Glu1922Gln) c.5218G>C (p.Glu1740Gln) c.4945G>C (p.Glu1649Gln) n.346G>C c.1451G>C c.5491G>C (p.Glu1831Gln) c.4672G>C (p.Glu1558Gln) c.4126G>C (p.Glu1376Gln) c.6040G>C (p.Glu2014Gln) c.5767G>C (p.Glu1923Gln) c.5221G>C (p.Glu1741Gln) c.4948G>C (p.Glu1650Gln) c.4399G>C (p.Glu1467Gln) c.6313G>C (p.Glu2105Gln) c.6037G>C (p.Glu2013Gln) | |
| 9 | g.115035227C>T | CA374626440 | TNC | c.3853G>A (p.Glu1285Lys) c.4675G>A (p.Glu1559Lys) c.2707G>A (p.Glu903Lys) c.1363G>A (p.Glu455Lys) c.4722G>A c.5764G>A (p.Glu1922Lys) c.5218G>A (p.Glu1740Lys) c.4945G>A (p.Glu1649Lys) n.346G>A c.1451G>A c.5491G>A (p.Glu1831Lys) c.4672G>A (p.Glu1558Lys) c.4126G>A (p.Glu1376Lys) c.6040G>A (p.Glu2014Lys) c.5767G>A (p.Glu1923Lys) c.5221G>A (p.Glu1741Lys) c.4948G>A (p.Glu1650Lys) c.4399G>A (p.Glu1467Lys) c.6313G>A (p.Glu2105Lys) c.6037G>A (p.Glu2013Lys) | |
| 9 | g.115035228A>C | CA374626443 | TNC | c.3852T>G (p.Tyr1284Ter) c.4674T>G (p.Tyr1558Ter) c.2706T>G (p.Tyr902Ter) c.1362T>G (p.Tyr454Ter) c.4721T>G c.5763T>G (p.Tyr1921Ter) c.5217T>G (p.Tyr1739Ter) c.4944T>G (p.Tyr1648Ter) n.345T>G c.1450T>G c.5490T>G (p.Tyr1830Ter) c.4671T>G (p.Tyr1557Ter) c.4125T>G (p.Tyr1375Ter) c.6039T>G (p.Tyr2013Ter) c.5766T>G (p.Tyr1922Ter) c.5220T>G (p.Tyr1740Ter) c.4947T>G (p.Tyr1649Ter) c.4398T>G (p.Tyr1466Ter) c.6312T>G (p.Tyr2104Ter) c.6036T>G (p.Tyr2012Ter) | |
| 9 | g.115035228A>G | CA466790011 | TNC | c.3852T>C (p.Tyr1284=) c.4674T>C (p.Tyr1558=) c.2706T>C (p.Tyr902=) c.1362T>C (p.Tyr454=) c.4721T>C c.5763T>C (p.Tyr1921=) c.5217T>C (p.Tyr1739=) c.4944T>C (p.Tyr1648=) n.345T>C c.1450T>C c.5490T>C (p.Tyr1830=) c.4671T>C (p.Tyr1557=) c.4125T>C (p.Tyr1375=) c.6039T>C (p.Tyr2013=) c.5766T>C (p.Tyr1922=) c.5220T>C (p.Tyr1740=) c.4947T>C (p.Tyr1649=) c.4398T>C (p.Tyr1466=) c.6312T>C (p.Tyr2104=) c.6036T>C (p.Tyr2012=) | |
| 9 | g.115035228A>T | CA374626444 | TNC | c.3852T>A (p.Tyr1284Ter) c.4674T>A (p.Tyr1558Ter) c.2706T>A (p.Tyr902Ter) c.1362T>A (p.Tyr454Ter) c.4721T>A c.5763T>A (p.Tyr1921Ter) c.5217T>A (p.Tyr1739Ter) c.4944T>A (p.Tyr1648Ter) n.345T>A c.1450T>A c.5490T>A (p.Tyr1830Ter) c.4671T>A (p.Tyr1557Ter) c.4125T>A (p.Tyr1375Ter) c.6039T>A (p.Tyr2013Ter) c.5766T>A (p.Tyr1922Ter) c.5220T>A (p.Tyr1740Ter) c.4947T>A (p.Tyr1649Ter) c.4398T>A (p.Tyr1466Ter) c.6312T>A (p.Tyr2104Ter) c.6036T>A (p.Tyr2012Ter) | |
| 9 | g.115035229T>A | CA374626445 | TNC | c.3851A>T (p.Tyr1284Phe) c.4673A>T (p.Tyr1558Phe) c.2705A>T (p.Tyr902Phe) c.1361A>T (p.Tyr454Phe) c.4720A>T c.5762A>T (p.Tyr1921Phe) c.5216A>T (p.Tyr1739Phe) c.4943A>T (p.Tyr1648Phe) n.344A>T c.1449A>T c.5489A>T (p.Tyr1830Phe) c.4670A>T (p.Tyr1557Phe) c.4124A>T (p.Tyr1375Phe) c.6038A>T (p.Tyr2013Phe) c.5765A>T (p.Tyr1922Phe) c.5219A>T (p.Tyr1740Phe) c.4946A>T (p.Tyr1649Phe) c.4397A>T (p.Tyr1466Phe) c.6311A>T (p.Tyr2104Phe) c.6035A>T (p.Tyr2012Phe) | |
| 9 | g.115035229T>C | CA5207541 | TNC | c.3851A>G (p.Tyr1284Cys) c.4673A>G (p.Tyr1558Cys) c.2705A>G (p.Tyr902Cys) c.1361A>G (p.Tyr454Cys) c.4720A>G c.5762A>G (p.Tyr1921Cys) c.5216A>G (p.Tyr1739Cys) c.4943A>G (p.Tyr1648Cys) n.344A>G c.1449A>G c.5489A>G (p.Tyr1830Cys) c.4670A>G (p.Tyr1557Cys) c.4124A>G (p.Tyr1375Cys) c.6038A>G (p.Tyr2013Cys) c.5765A>G (p.Tyr1922Cys) c.5219A>G (p.Tyr1740Cys) c.4946A>G (p.Tyr1649Cys) c.4397A>G (p.Tyr1466Cys) c.6311A>G (p.Tyr2104Cys) c.6035A>G (p.Tyr2012Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.115035229T>G | CA374626446 | TNC | c.3851A>C (p.Tyr1284Ser) c.4673A>C (p.Tyr1558Ser) c.2705A>C (p.Tyr902Ser) c.1361A>C (p.Tyr454Ser) c.4720A>C c.5762A>C (p.Tyr1921Ser) c.5216A>C (p.Tyr1739Ser) c.4943A>C (p.Tyr1648Ser) n.344A>C c.1449A>C c.5489A>C (p.Tyr1830Ser) c.4670A>C (p.Tyr1557Ser) c.4124A>C (p.Tyr1375Ser) c.6038A>C (p.Tyr2013Ser) c.5765A>C (p.Tyr1922Ser) c.5219A>C (p.Tyr1740Ser) c.4946A>C (p.Tyr1649Ser) c.4397A>C (p.Tyr1466Ser) c.6311A>C (p.Tyr2104Ser) c.6035A>C (p.Tyr2012Ser) | |
| 9 | g.115035229T= | CA1874113734 | TNC | c.3851A= (p.Tyr1284=) c.4673A= (p.Tyr1558=) c.2705A= (p.Tyr902=) c.1361A= (p.Tyr454=) c.4720A= c.5762A= (p.Tyr1921=) c.5216A= (p.Tyr1739=) c.4943A= (p.Tyr1648=) n.344A= c.1449A= c.5489A= (p.Tyr1830=) c.4670A= (p.Tyr1557=) c.4124A= (p.Tyr1375=) c.6038A= (p.Tyr2013=) c.5765A= (p.Tyr1922=) c.5219A= (p.Tyr1740=) c.4946A= (p.Tyr1649=) c.4397A= (p.Tyr1466=) c.6311A= (p.Tyr2104=) c.6035A= (p.Tyr2012=) | |
| 9 | g.115035230A>C | CA374626447 | TNC | c.3850T>G (p.Tyr1284Asp) c.4672T>G (p.Tyr1558Asp) c.2704T>G (p.Tyr902Asp) c.1360T>G (p.Tyr454Asp) c.4719T>G c.5761T>G (p.Tyr1921Asp) c.5215T>G (p.Tyr1739Asp) c.4942T>G (p.Tyr1648Asp) n.343T>G c.1448T>G c.5488T>G (p.Tyr1830Asp) c.4669T>G (p.Tyr1557Asp) c.4123T>G (p.Tyr1375Asp) c.6037T>G (p.Tyr2013Asp) c.5764T>G (p.Tyr1922Asp) c.5218T>G (p.Tyr1740Asp) c.4945T>G (p.Tyr1649Asp) c.4396T>G (p.Tyr1466Asp) c.6310T>G (p.Tyr2104Asp) c.6034T>G (p.Tyr2012Asp) | |
| 9 | g.115035230A>G | CA374626448 | TNC | c.3850T>C (p.Tyr1284His) c.4672T>C (p.Tyr1558His) c.2704T>C (p.Tyr902His) c.1360T>C (p.Tyr454His) c.4719T>C c.5761T>C (p.Tyr1921His) c.5215T>C (p.Tyr1739His) c.4942T>C (p.Tyr1648His) n.343T>C c.1448T>C c.5488T>C (p.Tyr1830His) c.4669T>C (p.Tyr1557His) c.4123T>C (p.Tyr1375His) c.6037T>C (p.Tyr2013His) c.5764T>C (p.Tyr1922His) c.5218T>C (p.Tyr1740His) c.4945T>C (p.Tyr1649His) c.4396T>C (p.Tyr1466His) c.6310T>C (p.Tyr2104His) c.6034T>C (p.Tyr2012His) | |
| 9 | g.115035230A>T | CA374626449 | TNC | c.3850T>A (p.Tyr1284Asn) c.4672T>A (p.Tyr1558Asn) c.2704T>A (p.Tyr902Asn) c.1360T>A (p.Tyr454Asn) c.4719T>A c.5761T>A (p.Tyr1921Asn) c.5215T>A (p.Tyr1739Asn) c.4942T>A (p.Tyr1648Asn) n.343T>A c.1448T>A c.5488T>A (p.Tyr1830Asn) c.4669T>A (p.Tyr1557Asn) c.4123T>A (p.Tyr1375Asn) c.6037T>A (p.Tyr2013Asn) c.5764T>A (p.Tyr1922Asn) c.5218T>A (p.Tyr1740Asn) c.4945T>A (p.Tyr1649Asn) c.4396T>A (p.Tyr1466Asn) c.6310T>A (p.Tyr2104Asn) c.6034T>A (p.Tyr2012Asn) | gnomAD v4 |
| 9 | g.115035231G>A | CA466790012 | TNC | c.3849C>T (p.Val1283=) c.4671C>T (p.Val1557=) c.2703C>T (p.Val901=) c.1359C>T (p.Val453=) c.4718C>T c.5760C>T (p.Val1920=) c.5214C>T (p.Val1738=) c.4941C>T (p.Val1647=) n.342C>T c.1447C>T c.5487C>T (p.Val1829=) c.4668C>T (p.Val1556=) c.4122C>T (p.Val1374=) c.6036C>T (p.Val2012=) c.5763C>T (p.Val1921=) c.5217C>T (p.Val1739=) c.4944C>T (p.Val1648=) c.4395C>T (p.Val1465=) c.6309C>T (p.Val2103=) c.6033C>T (p.Val2011=) | |
| 9 | g.115035231G>C | CA5207542 | TNC | c.3849C>G (p.Val1283=) c.4671C>G (p.Val1557=) c.2703C>G (p.Val901=) c.1359C>G (p.Val453=) c.4718C>G c.5760C>G (p.Val1920=) c.5214C>G (p.Val1738=) c.4941C>G (p.Val1647=) n.342C>G c.1447C>G c.5487C>G (p.Val1829=) c.4668C>G (p.Val1556=) c.4122C>G (p.Val1374=) c.6036C>G (p.Val2012=) c.5763C>G (p.Val1921=) c.5217C>G (p.Val1739=) c.4944C>G (p.Val1648=) c.4395C>G (p.Val1465=) c.6309C>G (p.Val2103=) c.6033C>G (p.Val2011=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.115035231G= | CA1874113735 | TNC | c.3849C= (p.Val1283=) c.4671C= (p.Val1557=) c.2703C= (p.Val901=) c.1359C= (p.Val453=) c.4718C= c.5760C= (p.Val1920=) c.5214C= (p.Val1738=) c.4941C= (p.Val1647=) n.342C= c.1447C= c.5487C= (p.Val1829=) c.4668C= (p.Val1556=) c.4122C= (p.Val1374=) c.6036C= (p.Val2012=) c.5763C= (p.Val1921=) c.5217C= (p.Val1739=) c.4944C= (p.Val1648=) c.4395C= (p.Val1465=) c.6309C= (p.Val2103=) c.6033C= (p.Val2011=) | |
| 9 | g.115035231G>T | CA466790013 | TNC | c.3849C>A (p.Val1283=) c.4671C>A (p.Val1557=) c.2703C>A (p.Val901=) c.1359C>A (p.Val453=) c.4718C>A c.5760C>A (p.Val1920=) c.5214C>A (p.Val1738=) c.4941C>A (p.Val1647=) n.342C>A c.1447C>A c.5487C>A (p.Val1829=) c.4668C>A (p.Val1556=) c.4122C>A (p.Val1374=) c.6036C>A (p.Val2012=) c.5763C>A (p.Val1921=) c.5217C>A (p.Val1739=) c.4944C>A (p.Val1648=) c.4395C>A (p.Val1465=) c.6309C>A (p.Val2103=) c.6033C>A (p.Val2011=) | |
| 9 | g.115035232A>C | CA374626450 | TNC | c.3848T>G (p.Val1283Gly) c.4670T>G (p.Val1557Gly) c.2702T>G (p.Val901Gly) c.1358T>G (p.Val453Gly) c.4717T>G c.5759T>G (p.Val1920Gly) c.5213T>G (p.Val1738Gly) c.4940T>G (p.Val1647Gly) n.341T>G c.1446T>G c.5486T>G (p.Val1829Gly) c.4667T>G (p.Val1556Gly) c.4121T>G (p.Val1374Gly) c.6035T>G (p.Val2012Gly) c.5762T>G (p.Val1921Gly) c.5216T>G (p.Val1739Gly) c.4943T>G (p.Val1648Gly) c.4394T>G (p.Val1465Gly) c.6308T>G (p.Val2103Gly) c.6032T>G (p.Val2011Gly) | |
| 9 | g.115035232A>G | CA374626451 | TNC | c.3848T>C (p.Val1283Ala) c.4670T>C (p.Val1557Ala) c.2702T>C (p.Val901Ala) c.1358T>C (p.Val453Ala) c.4717T>C c.5759T>C (p.Val1920Ala) c.5213T>C (p.Val1738Ala) c.4940T>C (p.Val1647Ala) n.341T>C c.1446T>C c.5486T>C (p.Val1829Ala) c.4667T>C (p.Val1556Ala) c.4121T>C (p.Val1374Ala) c.6035T>C (p.Val2012Ala) c.5762T>C (p.Val1921Ala) c.5216T>C (p.Val1739Ala) c.4943T>C (p.Val1648Ala) c.4394T>C (p.Val1465Ala) c.6308T>C (p.Val2103Ala) c.6032T>C (p.Val2011Ala) | |
| 9 | g.115035232A>T | CA374626452 | TNC | c.3848T>A (p.Val1283Asp) c.4670T>A (p.Val1557Asp) c.2702T>A (p.Val901Asp) c.1358T>A (p.Val453Asp) c.4717T>A c.5759T>A (p.Val1920Asp) c.5213T>A (p.Val1738Asp) c.4940T>A (p.Val1647Asp) n.341T>A c.1446T>A c.5486T>A (p.Val1829Asp) c.4667T>A (p.Val1556Asp) c.4121T>A (p.Val1374Asp) c.6035T>A (p.Val2012Asp) c.5762T>A (p.Val1921Asp) c.5216T>A (p.Val1739Asp) c.4943T>A (p.Val1648Asp) c.4394T>A (p.Val1465Asp) c.6308T>A (p.Val2103Asp) c.6032T>A (p.Val2011Asp) | |
| 9 | g.115035233C>A | CA5207543 | TNC | c.3847G>T (p.Val1283Phe) c.4669G>T (p.Val1557Phe) c.2701G>T (p.Val901Phe) c.1357G>T (p.Val453Phe) c.4716G>T c.5758G>T (p.Val1920Phe) c.5212G>T (p.Val1738Phe) c.4939G>T (p.Val1647Phe) n.340G>T c.1445G>T c.5485G>T (p.Val1829Phe) c.4666G>T (p.Val1556Phe) c.4120G>T (p.Val1374Phe) c.6034G>T (p.Val2012Phe) c.5761G>T (p.Val1921Phe) c.5215G>T (p.Val1739Phe) c.4942G>T (p.Val1648Phe) c.4393G>T (p.Val1465Phe) c.6307G>T (p.Val2103Phe) c.6031G>T (p.Val2011Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |