| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.32104819A= | CA2401804226 | SLC5A1 | c.1699A= (p.Lys567=) c.1318A= (p.Lys440=) n.591+2019T= n.486+15036T= | |
| 22 | g.32104819A>C | CA411314619 | SLC5A1 | c.1699A>C (p.Lys567Gln) c.1318A>C (p.Lys440Gln) n.591+2019T>G n.486+15036T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.32104819A>G | CA411314620 | SLC5A1 | c.1699A>G (p.Lys567Glu) c.1318A>G (p.Lys440Glu) n.591+2019T>C n.486+15036T>C | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.32104819A>T | CA411314621 | SLC5A1 | c.1699A>T (p.Lys567Ter) c.1318A>T (p.Lys440Ter) n.591+2019T>A n.486+15036T>A | |
| 22 | g.32104821dup | CA913087389 | SLC5A1 | c.1701dup (p.Glu568ArgfsTer5) c.1320dup (p.Glu441ArgfsTer5) n.591+2019dup n.486+15036dup | |
| 22 | g.32104820A= | CA2401804227 | SLC5A1 | c.1700A= (p.Lys567=) c.1319A= (p.Lys440=) n.591+2018T= n.486+15035T= | |
| 22 | g.32104820A>C | CA411314623 | SLC5A1 | c.1700A>C (p.Lys567Thr) c.1319A>C (p.Lys440Thr) n.591+2018T>G n.486+15035T>G | |
| 22 | g.32104820A>G | CA411314625 | SLC5A1 | c.1700A>G (p.Lys567Arg) c.1319A>G (p.Lys440Arg) n.591+2018T>C n.486+15035T>C | |
| 22 | g.32104820A>T | CA323385155 | SLC5A1 | c.1700A>T (p.Lys567Ile) c.1319A>T (p.Lys440Ile) n.591+2018T>A n.486+15035T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.32104821A= | CA2401804228 | SLC5A1 | c.1701A= (p.Lys567=) c.1320A= (p.Lys440=) n.591+2017T= n.486+15034T= | |
| 22 | g.32104821A>C | CA411314629 | SLC5A1 | c.1701A>C (p.Lys567Asn) c.1320A>C (p.Lys440Asn) n.591+2017T>G n.486+15034T>G | |
| 22 | g.32104821A>G | CA10198299 | SLC5A1 | c.1701A>G (p.Lys567=) c.1320A>G (p.Lys440=) n.591+2017T>C n.486+15034T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.32104821A>T | CA411314632 | SLC5A1 | c.1701A>T (p.Lys567Asn) c.1320A>T (p.Lys440Asn) n.591+2017T>A n.486+15034T>A | |
| 22 | g.32104822G>A | CA10198300 | SLC5A1 | c.1702G>A (p.Glu568Lys) c.1321G>A (p.Glu441Lys) n.591+2016C>T n.486+15033C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.32104822G>C | CA411314635 | SLC5A1 | c.1702G>C (p.Glu568Gln) c.1321G>C (p.Glu441Gln) n.591+2016C>G n.486+15033C>G | |
| 22 | g.32104822G= | CA2401804229 | SLC5A1 | c.1702G= (p.Glu568=) c.1321G= (p.Glu441=) n.591+2016C= n.486+15033C= | |
| 22 | g.32104822G>T | CA411314637 | SLC5A1 | c.1702G>T (p.Glu568Ter) c.1321G>T (p.Glu441Ter) n.591+2016C>A n.486+15033C>A | |
| 22 | g.32104823A= | CA2401804230 | SLC5A1 | c.1703A= (p.Glu568=) c.1322A= (p.Glu441=) n.591+2015T= n.486+15032T= | |
| 22 | g.32104823A>C | CA411314639 | SLC5A1 | c.1703A>C (p.Glu568Ala) c.1322A>C (p.Glu441Ala) n.591+2015T>G n.486+15032T>G | |
| 22 | g.32104823A>G | CA411314644 | SLC5A1 | c.1703A>G (p.Glu568Gly) c.1322A>G (p.Glu441Gly) n.591+2015T>C n.486+15032T>C | dbSNP |
| 22 | g.32104823A>T | CA411314641 | SLC5A1 | c.1703A>T (p.Glu568Val) c.1322A>T (p.Glu441Val) n.591+2015T>A n.486+15032T>A | |
| 22 | g.32104824G>A | CA514277434 | SLC5A1 | c.1704G>A (p.Glu568=) c.1323G>A (p.Glu441=) n.591+2014C>T n.486+15031C>T | |
| 22 | g.32104824G>C | CA411314646 | SLC5A1 | c.1704G>C (p.Glu568Asp) c.1323G>C (p.Glu441Asp) n.591+2014C>G n.486+15031C>G | |
| 22 | g.32104824G>T | CA411314649 | SLC5A1 | c.1704G>T (p.Glu568Asp) c.1323G>T (p.Glu441Asp) n.591+2014C>A n.486+15031C>A | |
| 22 | g.32104825G>A | CA411314651 | SLC5A1 | c.1705G>A (p.Glu569Lys) c.1324G>A (p.Glu442Lys) n.591+2013C>T n.486+15030C>T | dbSNP gnomAD v4 |
| 22 | g.32104825G>C | CA411314653 | SLC5A1 | c.1705G>C (p.Glu569Gln) c.1324G>C (p.Glu442Gln) n.591+2013C>G n.486+15030C>G | |
| 22 | g.32104825G= | CA2401804231 | SLC5A1 | c.1705G= (p.Glu569=) c.1324G= (p.Glu442=) n.591+2013C= n.486+15030C= | |
| 22 | g.32104825G>T | CA411314655 | SLC5A1 | c.1705G>T (p.Glu569Ter) c.1324G>T (p.Glu442Ter) n.591+2013C>A n.486+15030C>A | |
| 22 | g.32104826A= | CA2401804232 | SLC5A1 | c.1706A= (p.Glu569=) c.1325A= (p.Glu442=) n.591+2012T= n.486+15029T= | |
| 22 | g.32104826A>C | CA411314658 | SLC5A1 | c.1706A>C (p.Glu569Ala) c.1325A>C (p.Glu442Ala) n.591+2012T>G n.486+15029T>G | |
| 22 | g.32104826A>G | CA411314659 | SLC5A1 | c.1706A>G (p.Glu569Gly) c.1325A>G (p.Glu442Gly) n.591+2012T>C n.486+15029T>C | |
| 22 | g.32104826A>T | CA411314661 | SLC5A1 | c.1706A>T (p.Glu569Val) c.1325A>T (p.Glu442Val) n.591+2012T>A n.486+15029T>A | dbSNP gnomAD v4 |
| 22 | g.32104827G>A | CA514277435 | SLC5A1 | c.1707G>A (p.Glu569=) c.1326G>A (p.Glu442=) n.591+2011C>T n.486+15028C>T | gnomAD v4 |
| 22 | g.32104827G>C | CA411314663 | SLC5A1 | c.1707G>C (p.Glu569Asp) c.1326G>C (p.Glu442Asp) n.591+2011C>G n.486+15028C>G | |
| 22 | g.32104827G>T | CA411314665 | SLC5A1 | c.1707G>T (p.Glu569Asp) c.1326G>T (p.Glu442Asp) n.591+2011C>A n.486+15028C>A | |
| 22 | g.32104828C>A | CA411314667 | SLC5A1 | c.1708C>A (p.Arg570Ser) c.1327C>A (p.Arg443Ser) n.591+2010G>T n.486+15027G>T | |
| 22 | g.32104828C= | CA2401804233 | SLC5A1 | c.1708C= (p.Arg570=) c.1327C= (p.Arg443=) n.591+2010G= n.486+15027G= | |
| 22 | g.32104828C>G | CA411314669 | SLC5A1 | c.1708C>G (p.Arg570Gly) c.1327C>G (p.Arg443Gly) n.591+2010G>C n.486+15027G>C | |
| 22 | g.32104828C>T | CA10198301 | SLC5A1 | c.1708C>T (p.Arg570Cys) c.1327C>T (p.Arg443Cys) n.591+2010G>A n.486+15027G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.32104829G>A | CA411314676 | SLC5A1 | c.1709G>A (p.Arg570His) c.1328G>A (p.Arg443His) n.591+2009C>T n.486+15026C>T | dbSNP gnomAD v4 COSMIC |
| 22 | g.32104829G>C | CA411314674 | SLC5A1 | c.1709G>C (p.Arg570Pro) c.1328G>C (p.Arg443Pro) n.591+2009C>G n.486+15026C>G | |
| 22 | g.32104829G= | CA2401804234 | SLC5A1 | c.1709G= (p.Arg570=) c.1328G= (p.Arg443=) n.591+2009C= n.486+15026C= | |
| 22 | g.32104829G>T | CA411314672 | SLC5A1 | c.1709G>T (p.Arg570Leu) c.1328G>T (p.Arg443Leu) n.591+2009C>A n.486+15026C>A | |
| 22 | g.32104830T>A | CA514277436 | SLC5A1 | c.1710T>A (p.Arg570=) c.1329T>A (p.Arg443=) n.591+2008A>T n.486+15025A>T | |
| 22 | g.32104830T>C | CA514277438 | SLC5A1 | c.1710T>C (p.Arg570=) c.1329T>C (p.Arg443=) n.591+2008A>G n.486+15025A>G | |
| 22 | g.32104830T>G | CA514277437 | SLC5A1 | c.1710T>G (p.Arg570=) c.1329T>G (p.Arg443=) n.591+2008A>C n.486+15025A>C | |
| 22 | g.32104831A= | CA2401804235 | SLC5A1 | c.1711A= (p.Ile571=) c.1330A= (p.Ile444=) n.591+2007T= n.486+15024T= | |
| 22 | g.32104831A>C | CA411314679 | SLC5A1 | c.1711A>C (p.Ile571Leu) c.1330A>C (p.Ile444Leu) n.591+2007T>G n.486+15024T>G | |
| 22 | g.32104831A>G | CA10198302 | SLC5A1 | c.1711A>G (p.Ile571Val) c.1330A>G (p.Ile444Val) n.591+2007T>C n.486+15024T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.32104831A>T | CA411314681 | SLC5A1 | c.1711A>T (p.Ile571Phe) c.1330A>T (p.Ile444Phe) n.591+2007T>A n.486+15024T>A | |
| 22 | g.32104832T>A | CA411314683 | SLC5A1 | c.1712T>A (p.Ile571Asn) c.1331T>A (p.Ile444Asn) n.591+2006A>T n.486+15023A>T | |
| 22 | g.32104832T>C | CA411314685 | SLC5A1 | c.1712T>C (p.Ile571Thr) c.1331T>C (p.Ile444Thr) n.591+2006A>G n.486+15023A>G | gnomAD v4 |
| 22 | g.32104832T>G | CA411314687 | SLC5A1 | c.1712T>G (p.Ile571Ser) c.1331T>G (p.Ile444Ser) n.591+2006A>C n.486+15023A>C | |
| 22 | g.32104833T>A | CA514277439 | SLC5A1 | c.1713T>A (p.Ile571=) c.1332T>A (p.Ile444=) n.591+2005A>T n.486+15022A>T | |
| 22 | g.32104833T>C | CA514277440 | SLC5A1 | c.1713T>C (p.Ile571=) c.1332T>C (p.Ile444=) n.591+2005A>G n.486+15022A>G | |
| 22 | g.32104833T>G | CA411314689 | SLC5A1 | c.1713T>G (p.Ile571Met) c.1332T>G (p.Ile444Met) n.591+2005A>C n.486+15022A>C | |
| 22 | g.32104834G>A | CA411314691 | SLC5A1 | c.1714G>A (p.Asp572Asn) c.1333G>A (p.Asp445Asn) n.591+2004C>T n.486+15021C>T | |
| 22 | g.32104834G>C | CA411314693 | SLC5A1 | c.1714G>C (p.Asp572His) c.1333G>C (p.Asp445His) n.591+2004C>G n.486+15021C>G | |
| 22 | g.32104834G>T | CA411314695 | SLC5A1 | c.1714G>T (p.Asp572Tyr) c.1333G>T (p.Asp445Tyr) n.591+2004C>A n.486+15021C>A | |
| 22 | g.32104835A= | CA2401804236 | SLC5A1 | c.1715A= (p.Asp572=) c.1334A= (p.Asp445=) n.591+2003T= n.486+15020T= | |
| 22 | g.32104835A>C | CA411314696 | SLC5A1 | c.1715A>C (p.Asp572Ala) c.1334A>C (p.Asp445Ala) n.591+2003T>G n.486+15020T>G | |
| 22 | g.32104835A>G | CA411314697 | SLC5A1 | c.1715A>G (p.Asp572Gly) c.1334A>G (p.Asp445Gly) n.591+2003T>C n.486+15020T>C | dbSNP gnomAD v2 |
| 22 | g.32104835A>T | CA411314698 | SLC5A1 | c.1715A>T (p.Asp572Val) c.1334A>T (p.Asp445Val) n.591+2003T>A n.486+15020T>A | |
| 22 | g.32104836C>A | CA411314702 | SLC5A1 | c.1716C>A (p.Asp572Glu) c.1335C>A (p.Asp445Glu) n.591+2002G>T n.486+15019G>T | |
| 22 | g.32104836C= | CA2401804237 | SLC5A1 | c.1716C= (p.Asp572=) c.1335C= (p.Asp445=) n.591+2002G= n.486+15019G= | |
| 22 | g.32104836C>G | CA411314701 | SLC5A1 | c.1716C>G (p.Asp572Glu) c.1335C>G (p.Asp445Glu) n.591+2002G>C n.486+15019G>C | |
| 22 | g.32104836C>T | CA514277441 | SLC5A1 | c.1716C>T (p.Asp572=) c.1335C>T (p.Asp445=) n.591+2002G>A n.486+15019G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.32104837C>A | CA411314703 | SLC5A1 | c.1717C>A (p.Leu573Met) c.1336C>A (p.Leu446Met) n.591+2001G>T n.486+15018G>T | dbSNP |
| 22 | g.32104837C>G | CA411314704 | SLC5A1 | c.1717C>G (p.Leu573Val) c.1336C>G (p.Leu446Val) n.591+2001G>C n.486+15018G>C | |
| 22 | g.32104837C>T | CA514277442 | SLC5A1 | c.1717C>T (p.Leu573=) c.1336C>T (p.Leu446=) n.591+2001G>A n.486+15018G>A | |
| 22 | g.32104838T>A | CA411314707 | SLC5A1 | c.1718T>A (p.Leu573Gln) c.1337T>A (p.Leu446Gln) n.591+2000A>T n.486+15017A>T | |
| 22 | g.32104838T>C | CA411314708 | SLC5A1 | c.1718T>C (p.Leu573Pro) c.1337T>C (p.Leu446Pro) n.591+2000A>G n.486+15017A>G | |
| 22 | g.32104838T>G | CA411314710 | SLC5A1 | c.1718T>G (p.Leu573Arg) c.1337T>G (p.Leu446Arg) n.591+2000A>C n.486+15017A>C | |
| 22 | g.32104839G>A | CA514277443 | SLC5A1 | c.1719G>A (p.Leu573=) c.1338G>A (p.Leu446=) n.591+1999C>T n.486+15016C>T | gnomAD v4 |
| 22 | g.32104839G>C | CA514277444 | SLC5A1 | c.1719G>C (p.Leu573=) c.1338G>C (p.Leu446=) n.591+1999C>G n.486+15016C>G | |
| 22 | g.32104839G>T | CA514277445 | SLC5A1 | c.1719G>T (p.Leu573=) c.1338G>T (p.Leu446=) n.591+1999C>A n.486+15016C>A | |
| 22 | g.32104840G>A | CA411314712 | SLC5A1 | c.1720G>A (p.Asp574Asn) c.1339G>A (p.Asp447Asn) n.591+1998C>T n.486+15015C>T | |
| 22 | g.32104840G>C | CA411314714 | SLC5A1 | c.1720G>C (p.Asp574His) c.1339G>C (p.Asp447His) n.591+1998C>G n.486+15015C>G | |
| 22 | g.32104840G= | CA2401804238 | SLC5A1 | c.1720G= (p.Asp574=) c.1339G= (p.Asp447=) n.591+1998C= n.486+15015C= | |
| 22 | g.32104840G>T | CA323385200 | SLC5A1 | c.1720G>T (p.Asp574Tyr) c.1339G>T (p.Asp447Tyr) n.591+1998C>A n.486+15015C>A | dbSNP gnomAD v4 |
| 22 | g.32104841A= | CA2401804239 | SLC5A1 | c.1721A= (p.Asp574=) c.1340A= (p.Asp447=) n.591+1997T= n.486+15014T= | |
| 22 | g.32104841A>C | CA411314717 | SLC5A1 | c.1721A>C (p.Asp574Ala) c.1340A>C (p.Asp447Ala) n.591+1997T>G n.486+15014T>G | |
| 22 | g.32104841A>G | CA411314719 | SLC5A1 | c.1721A>G (p.Asp574Gly) c.1340A>G (p.Asp447Gly) n.591+1997T>C n.486+15014T>C | |
| 22 | g.32104841A>T | CA411314721 | SLC5A1 | c.1721A>T (p.Asp574Val) c.1340A>T (p.Asp447Val) n.591+1997T>A n.486+15014T>A | dbSNP |
| 22 | g.32104842T>A | CA411314723 | SLC5A1 | c.1722T>A (p.Asp574Glu) c.1341T>A (p.Asp447Glu) n.591+1996A>T n.486+15013A>T | |
| 22 | g.32104842T>C | CA10198303 | SLC5A1 | c.1722T>C (p.Asp574=) c.1341T>C (p.Asp447=) n.591+1996A>G n.486+15013A>G | dbSNP ExAC gnomAD v2 |
| 22 | g.32104842T>G | CA411314726 | SLC5A1 | c.1722T>G (p.Asp574Glu) c.1341T>G (p.Asp447Glu) n.591+1996A>C n.486+15013A>C | |
| 22 | g.32104842T= | CA2401804240 | SLC5A1 | c.1722T= (p.Asp574=) c.1341T= (p.Asp447=) n.591+1996A= n.486+15013A= | |
| 22 | g.32104843G>A | CA411314732 | SLC5A1 | c.1723G>A (p.Ala575Thr) c.1342G>A (p.Ala448Thr) n.591+1995C>T n.486+15012C>T | |
| 22 | g.32104843G>C | CA411314730 | SLC5A1 | c.1723G>C (p.Ala575Pro) c.1342G>C (p.Ala448Pro) n.591+1995C>G n.486+15012C>G | |
| 22 | g.32104843G>T | CA411314728 | SLC5A1 | c.1723G>T (p.Ala575Ser) c.1342G>T (p.Ala448Ser) n.591+1995C>A n.486+15012C>A | |
| 22 | g.32104844C>A | CA10198305 | SLC5A1 | c.1724C>A (p.Ala575Glu) c.1343C>A (p.Ala448Glu) n.591+1994G>T n.486+15011G>T | ClinVar dbSNP ExAC gnomAD v4 |
| 22 | g.32104844C= | CA2401804241 | SLC5A1 | c.1724C= (p.Ala575=) c.1343C= (p.Ala448=) n.591+1994G= n.486+15011G= | |
| 22 | g.32104844C>G | CA411314735 | SLC5A1 | c.1724C>G (p.Ala575Gly) c.1343C>G (p.Ala448Gly) n.591+1994G>C n.486+15011G>C | |
| 22 | g.32104844C>T | CA10198304 | SLC5A1 | c.1724C>T (p.Ala575Val) c.1343C>T (p.Ala448Val) n.591+1994G>A n.486+15011G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.32104845G>A | CA10198306 | SLC5A1 | c.1725G>A (p.Ala575=) c.1344G>A (p.Ala448=) n.591+1993C>T n.486+15010C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.32104845G>C | CA514277446 | SLC5A1 | c.1725G>C (p.Ala575=) c.1344G>C (p.Ala448=) n.591+1993C>G n.486+15010C>G | |
| 22 | g.32104845G= | CA2401804242 | SLC5A1 | c.1725G= (p.Ala575=) c.1344G= (p.Ala448=) n.591+1993C= n.486+15010C= | |
| 22 | g.32104845G>T | CA514277447 | SLC5A1 | c.1725G>T (p.Ala575=) c.1344G>T (p.Ala448=) n.591+1993C>A n.486+15010C>A | |
| 22 | g.32104846G>A | CA411314739 | SLC5A1 | c.1726G>A (p.Glu576Lys) c.1345G>A (p.Glu449Lys) n.591+1992C>T n.486+15009C>T | |
| 22 | g.32104846G>C | CA411314741 | SLC5A1 | c.1726G>C (p.Glu576Gln) c.1345G>C (p.Glu449Gln) n.591+1992C>G n.486+15009C>G | |
| 22 | g.32104846G>T | CA411314743 | SLC5A1 | c.1726G>T (p.Glu576Ter) c.1345G>T (p.Glu449Ter) n.591+1992C>A n.486+15009C>A | |
| 22 | g.32104847A>C | CA411314745 | SLC5A1 | c.1727A>C (p.Glu576Ala) c.1346A>C (p.Glu449Ala) n.591+1991T>G n.486+15008T>G | |
| 22 | g.32104847A>G | CA411314747 | SLC5A1 | c.1727A>G (p.Glu576Gly) c.1346A>G (p.Glu449Gly) n.591+1991T>C n.486+15008T>C | gnomAD v4 |
| 22 | g.32104847A>T | CA411314749 | SLC5A1 | c.1727A>T (p.Glu576Val) c.1346A>T (p.Glu449Val) n.591+1991T>A n.486+15008T>A | |
| 22 | g.32104848A>C | CA411314751 | SLC5A1 | c.1728A>C (p.Glu576Asp) c.1347A>C (p.Glu449Asp) n.591+1990T>G n.486+15007T>G | |
| 22 | g.32104848A>G | CA514277448 | SLC5A1 | c.1728A>G (p.Glu576=) c.1347A>G (p.Glu449=) n.591+1990T>C n.486+15007T>C | |
| 22 | g.32104848A>T | CA411314752 | SLC5A1 | c.1728A>T (p.Glu576Asp) c.1347A>T (p.Glu449Asp) n.591+1990T>A n.486+15007T>A | |
| 22 | g.32104848_32104851delinsAGAG | CA2401804243 | SLC5A1 | c.1728_1731delinsAGAG (p.Glu576=) c.1347_1350delinsAGAG (p.Glu449=) n.591+1987_591+1990delinsCTCT n.486+15004_486+15007delinsCTCT | |
| 22 | g.32104849G>A | CA411314756 | SLC5A1 | c.1729G>A (p.Glu577Lys) c.1348G>A (p.Glu450Lys) n.591+1989C>T n.486+15006C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.32104849G>C | CA411314759 | SLC5A1 | c.1729G>C (p.Glu577Gln) c.1348G>C (p.Glu450Gln) n.591+1989C>G n.486+15006C>G | |
| 22 | g.32104849G= | CA2401804244 | SLC5A1 | c.1729G= (p.Glu577=) c.1348G= (p.Glu450=) n.591+1989C= n.486+15006C= | |
| 22 | g.32104849G>T | CA411314757 | SLC5A1 | c.1729G>T (p.Glu577Ter) c.1348G>T (p.Glu450Ter) n.591+1989C>A n.486+15006C>A | |
| 22 | g.32104852_32104854del | CA639080529 | SLC5A1 | c.1732_1734del (p.Glu578del) c.1351_1353del (p.Glu451del) n.591+1987_591+1989del n.486+15004_486+15006del | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.32104850A= | CA2401804245 | SLC5A1 | c.1730A= (p.Glu577=) c.1349A= (p.Glu450=) n.591+1988T= n.486+15005T= | |
| 22 | g.32104850A>C | CA411314761 | SLC5A1 | c.1730A>C (p.Glu577Ala) c.1349A>C (p.Glu450Ala) n.591+1988T>G n.486+15005T>G | ClinVar dbSNP gnomAD v4 |
| 22 | g.32104850A>G | CA411314765 | SLC5A1 | c.1730A>G (p.Glu577Gly) c.1349A>G (p.Glu450Gly) n.591+1988T>C n.486+15005T>C | dbSNP |
| 22 | g.32104850A>T | CA411314763 | SLC5A1 | c.1730A>T (p.Glu577Val) c.1349A>T (p.Glu450Val) n.591+1988T>A n.486+15005T>A | |
| 22 | g.32104851G>A | CA514277449 | SLC5A1 | c.1731G>A (p.Glu577=) c.1350G>A (p.Glu450=) n.591+1987C>T n.486+15004C>T | |
| 22 | g.32104851G>C | CA411314767 | SLC5A1 | c.1731G>C (p.Glu577Asp) c.1350G>C (p.Glu450Asp) n.591+1987C>G n.486+15004C>G | |
| 22 | g.32104851G= | CA2401804246 | SLC5A1 | c.1731G= (p.Glu577=) c.1350G= (p.Glu450=) n.591+1987C= n.486+15004C= | |
| 22 | g.32104851G>T | CA323385245 | SLC5A1 | c.1731G>T (p.Glu577Asp) c.1350G>T (p.Glu450Asp) n.591+1987C>A n.486+15004C>A | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.32104852G>A | CA411314770 | SLC5A1 | c.1732G>A (p.Glu578Lys) c.1351G>A (p.Glu451Lys) n.591+1986C>T n.486+15003C>T | ClinVar dbSNP gnomAD v2 |
| 22 | g.32104852G>C | CA411314774 | SLC5A1 | c.1732G>C (p.Glu578Gln) c.1351G>C (p.Glu451Gln) n.591+1986C>G n.486+15003C>G | |
| 22 | g.32104852G= | CA2401804247 | SLC5A1 | c.1732G= (p.Glu578=) c.1351G= (p.Glu451=) n.591+1986C= n.486+15003C= | |
| 22 | g.32104852G>T | CA411314772 | SLC5A1 | c.1732G>T (p.Glu578Ter) c.1351G>T (p.Glu451Ter) n.591+1986C>A n.486+15003C>A | |
| 22 | g.32104853A>C | CA411314775 | SLC5A1 | c.1733A>C (p.Glu578Ala) c.1352A>C (p.Glu451Ala) n.591+1985T>G n.486+15002T>G | |
| 22 | g.32104853A>G | CA411314776 | SLC5A1 | c.1733A>G (p.Glu578Gly) c.1352A>G (p.Glu451Gly) n.591+1985T>C n.486+15002T>C | |
| 22 | g.32104853A>T | CA411314777 | SLC5A1 | c.1733A>T (p.Glu578Val) c.1352A>T (p.Glu451Val) n.591+1985T>A n.486+15002T>A | |
| 22 | g.32104854G>A | CA514277450 | SLC5A1 | c.1734G>A (p.Glu578=) c.1353G>A (p.Glu451=) n.591+1984C>T n.486+15001C>T | |
| 22 | g.32104854G>C | CA411314779 | SLC5A1 | c.1734G>C (p.Glu578Asp) c.1353G>C (p.Glu451Asp) n.591+1984C>G n.486+15001C>G | |
| 22 | g.32104854G>T | CA411314780 | SLC5A1 | c.1734G>T (p.Glu578Asp) c.1353G>T (p.Glu451Asp) n.591+1984C>A n.486+15001C>A | |
| 22 | g.32104855A= | CA2401804248 | SLC5A1 | c.1735A= (p.Asn579=) c.1354A= (p.Asn452=) n.591+1983T= n.486+15000T= | |
| 22 | g.32104855A>C | CA411314783 | SLC5A1 | c.1735A>C (p.Asn579His) c.1354A>C (p.Asn452His) n.591+1983T>G n.486+15000T>G | |
| 22 | g.32104855A>G | CA10198307 | SLC5A1 | c.1735A>G (p.Asn579Asp) c.1354A>G (p.Asn452Asp) n.591+1983T>C n.486+15000T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.32104855A>T | CA411314785 | SLC5A1 | c.1735A>T (p.Asn579Tyr) c.1354A>T (p.Asn452Tyr) n.591+1983T>A n.486+15000T>A | |
| 22 | g.32104856A>C | CA411314788 | SLC5A1 | c.1736A>C (p.Asn579Thr) c.1355A>C (p.Asn452Thr) n.591+1982T>G n.486+14999T>G | |
| 22 | g.32104856A>G | CA411314789 | SLC5A1 | c.1736A>G (p.Asn579Ser) c.1355A>G (p.Asn452Ser) n.591+1982T>C n.486+14999T>C | |
| 22 | g.32104856A>T | CA411314791 | SLC5A1 | c.1736A>T (p.Asn579Ile) c.1355A>T (p.Asn452Ile) n.591+1982T>A n.486+14999T>A | |
| 22 | g.32104857C>A | CA411314792 | SLC5A1 | c.1737C>A (p.Asn579Lys) c.1356C>A (p.Asn452Lys) n.591+1981G>T n.486+14998G>T | |
| 22 | g.32104857C>G | CA411314794 | SLC5A1 | c.1737C>G (p.Asn579Lys) c.1356C>G (p.Asn452Lys) n.591+1981G>C n.486+14998G>C | |
| 22 | g.32104857C>T | CA514277451 | SLC5A1 | c.1737C>T (p.Asn579=) c.1356C>T (p.Asn452=) n.591+1981G>A n.486+14998G>A | gnomAD v4 |
| 22 | g.32104858A= | CA2401804249 | SLC5A1 | c.1738A= (p.Ile580=) c.1357A= (p.Ile453=) n.591+1980T= n.486+14997T= | |
| 22 | g.32104858A>C | CA411314797 | SLC5A1 | c.1738A>C (p.Ile580Leu) c.1357A>C (p.Ile453Leu) n.591+1980T>G n.486+14997T>G | gnomAD v4 |
| 22 | g.32104858A>G | CA10198308 | SLC5A1 | c.1738A>G (p.Ile580Val) c.1357A>G (p.Ile453Val) n.591+1980T>C n.486+14997T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.32104858A>T | CA411314795 | SLC5A1 | c.1738A>T (p.Ile580Phe) c.1357A>T (p.Ile453Phe) n.591+1980T>A n.486+14997T>A | |
| 22 | g.32104859T>A | CA411314800 | SLC5A1 | c.1739T>A (p.Ile580Asn) c.1358T>A (p.Ile453Asn) n.591+1979A>T n.486+14996A>T | dbSNP gnomAD v4 |
| 22 | g.32104859T>C | CA411314802 | SLC5A1 | c.1739T>C (p.Ile580Thr) c.1358T>C (p.Ile453Thr) n.591+1979A>G n.486+14996A>G | gnomAD v4 |
| 22 | g.32104859T>G | CA411314804 | SLC5A1 | c.1739T>G (p.Ile580Ser) c.1358T>G (p.Ile453Ser) n.591+1979A>C n.486+14996A>C | |
| 22 | g.32104859T= | CA2401804250 | SLC5A1 | c.1739T= (p.Ile580=) c.1358T= (p.Ile453=) n.591+1979A= n.486+14996A= | |
| 22 | g.32104860C>A | CA514277452 | SLC5A1 | c.1740C>A (p.Ile580=) c.1359C>A (p.Ile453=) n.591+1978G>T n.486+14995G>T | |
| 22 | g.32104860C= | CA2401804251 | SLC5A1 | c.1740C= (p.Ile580=) c.1359C= (p.Ile453=) n.591+1978G= n.486+14995G= | |
| 22 | g.32104860C>G | CA10198309 | SLC5A1 | c.1740C>G (p.Ile580Met) c.1359C>G (p.Ile453Met) n.591+1978G>C n.486+14995G>C | dbSNP ExAC gnomAD v2 |
| 22 | g.32104860C>T | CA323385263 | SLC5A1 | c.1740C>T (p.Ile580=) c.1359C>T (p.Ile453=) n.591+1978G>A n.486+14995G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.32104861C>A | CA411314810 | SLC5A1 | c.1741C>A (p.Gln581Lys) c.1360C>A (p.Gln454Lys) n.591+1977G>T n.486+14994G>T | |
| 22 | g.32104861C= | CA2401804253 | SLC5A1 | c.1741C= (p.Gln581=) c.1360C= (p.Gln454=) n.591+1977G= n.486+14994G= | |
| 22 | g.32104861C>G | CA10198310 | SLC5A1 | c.1741C>G (p.Gln581Glu) c.1360C>G (p.Gln454Glu) n.591+1977G>C n.486+14994G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.32104861C>T | CA411314811 | SLC5A1 | c.1741C>T (p.Gln581Ter) c.1360C>T (p.Gln454Ter) n.591+1977G>A n.486+14994G>A | |
| 22 | g.32104861_32104864delinsCAAG | CA2401804252 | SLC5A1 | c.1741_1744delinsCAAG (p.Gln581=) c.1360_1363delinsCAAG (p.Gln454=) n.591+1974_591+1977delinsCTTG n.486+14991_486+14994delinsCTTG | |
| 22 | g.32104862A>C | CA411314813 | SLC5A1 | c.1742A>C (p.Gln581Pro) c.1361A>C (p.Gln454Pro) n.591+1976T>G n.486+14993T>G | |
| 22 | g.32104862A>G | CA411314815 | SLC5A1 | c.1742A>G (p.Gln581Arg) c.1361A>G (p.Gln454Arg) n.591+1976T>C n.486+14993T>C | |
| 22 | g.32104862A>T | CA411314817 | SLC5A1 | c.1742A>T (p.Gln581Leu) c.1361A>T (p.Gln454Leu) n.591+1976T>A n.486+14993T>A | |
| 22 | g.32104865_32104867del | CA1025134133 | SLC5A1 | c.1745_1747del (p.Glu582del) c.1364_1366del (p.Glu455del) n.591+1974_591+1976del n.486+14991_486+14993del | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.32104863A>C | CA411314818 | SLC5A1 | c.1743A>C (p.Gln581His) c.1362A>C (p.Gln454His) n.591+1975T>G n.486+14992T>G | |
| 22 | g.32104863A>G | CA514277453 | SLC5A1 | c.1743A>G (p.Gln581=) c.1362A>G (p.Gln454=) n.591+1975T>C n.486+14992T>C | gnomAD v4 |
| 22 | g.32104863A>T | CA411314819 | SLC5A1 | c.1743A>T (p.Gln581His) c.1362A>T (p.Gln454His) n.591+1975T>A n.486+14992T>A | |
| 22 | g.32104864G>A | CA411314824 | SLC5A1 | c.1744G>A (p.Glu582Lys) c.1363G>A (p.Glu455Lys) n.591+1974C>T n.486+14991C>T | ClinVar |
| 22 | g.32104864G>C | CA411314825 | SLC5A1 | c.1744G>C (p.Glu582Gln) c.1363G>C (p.Glu455Gln) n.591+1974C>G n.486+14991C>G | |
| 22 | g.32104864G>T | CA411314822 | SLC5A1 | c.1744G>T (p.Glu582Ter) c.1363G>T (p.Glu455Ter) n.591+1974C>A n.486+14991C>A | |
| 22 | g.32104864_32104887delinsGAAGGCCCTAAGGAGACCATTGAA | CA2401804254 | SLC5A1 | c.1744_1767delinsGAAGGCCCTAAGGAGACCATTGAA (p.Glu582=) c.1363_1386delinsGAAGGCCCTAAGGAGACCATTGAA (p.Glu455=) n.591+1951_591+1974delinsTTCAATGGTCTCCTTAGGGCCTTC n.486+14968_486+14991delinsTTCAATGGTCTCCTTAGGGCCTTC | |
| 22 | g.32104865A= | CA2401804255 | SLC5A1 | c.1745A= (p.Glu582=) c.1364A= (p.Glu455=) n.591+1973T= n.486+14990T= | |
| 22 | g.32104865A>C | CA411314826 | SLC5A1 | c.1745A>C (p.Glu582Ala) c.1364A>C (p.Glu455Ala) n.591+1973T>G n.486+14990T>G | dbSNP gnomAD v4 |
| 22 | g.32104865A>G | CA411314827 | SLC5A1 | c.1745A>G (p.Glu582Gly) c.1364A>G (p.Glu455Gly) n.591+1973T>C n.486+14990T>C | gnomAD v4 |
| 22 | g.32104865A>T | CA411314828 | SLC5A1 | c.1745A>T (p.Glu582Val) c.1364A>T (p.Glu455Val) n.591+1973T>A n.486+14990T>A | |
| 22 | g.32104866_32104888del | CA10198311 | SLC5A1 | c.1746_1768del (p.Glu582AspfsTer7) c.1365_1387del (p.Glu455AspfsTer7) n.591+1951_591+1973del n.486+14968_486+14990del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.32104866A>C | CA411314829 | SLC5A1 | c.1746A>C (p.Glu582Asp) c.1365A>C (p.Glu455Asp) n.591+1972T>G n.486+14989T>G | gnomAD v4 |
| 22 | g.32104866A>G | CA514277454 | SLC5A1 | c.1746A>G (p.Glu582=) c.1365A>G (p.Glu455=) n.591+1972T>C n.486+14989T>C | |
| 22 | g.32104866A>T | CA411314830 | SLC5A1 | c.1746A>T (p.Glu582Asp) c.1365A>T (p.Glu455Asp) n.591+1972T>A n.486+14989T>A | |
| 22 | g.32104867G>A | CA411314831 | SLC5A1 | c.1747G>A (p.Gly583Ser) c.1366G>A (p.Gly456Ser) n.591+1971C>T n.486+14988C>T | |
| 22 | g.32104867G>C | CA411314832 | SLC5A1 | c.1747G>C (p.Gly583Arg) c.1366G>C (p.Gly456Arg) n.591+1971C>G n.486+14988C>G | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.32104867G= | CA2401804256 | SLC5A1 | c.1747G= (p.Gly583=) c.1366G= (p.Gly456=) n.591+1971C= n.486+14988C= | |
| 22 | g.32104867G>T | CA411314833 | SLC5A1 | c.1747G>T (p.Gly583Cys) c.1366G>T (p.Gly456Cys) n.591+1971C>A n.486+14988C>A | |
| 22 | g.32104868G>A | CA323385292 | SLC5A1 | c.1748G>A (p.Gly583Asp) c.1367G>A (p.Gly456Asp) n.591+1970C>T n.486+14987C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.32104868G>C | CA411314834 | SLC5A1 | c.1748G>C (p.Gly583Ala) c.1367G>C (p.Gly456Ala) n.591+1970C>G n.486+14987C>G | gnomAD v4 |
| 22 | g.32104868G= | CA2401804257 | SLC5A1 | c.1748G= (p.Gly583=) c.1367G= (p.Gly456=) n.591+1970C= n.486+14987C= | |
| 22 | g.32104868G>T | CA411314835 | SLC5A1 | c.1748G>T (p.Gly583Val) c.1367G>T (p.Gly456Val) n.591+1970C>A n.486+14987C>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.32104869C>A | CA514277455 | SLC5A1 | c.1749C>A (p.Gly583=) c.1368C>A (p.Gly456=) n.591+1969G>T n.486+14986G>T | |
| 22 | g.32104869C>G | CA514277456 | SLC5A1 | c.1749C>G (p.Gly583=) c.1368C>G (p.Gly456=) n.591+1969G>C n.486+14986G>C | |
| 22 | g.32104869C>T | CA514277457 | SLC5A1 | c.1749C>T (p.Gly583=) c.1368C>T (p.Gly456=) n.591+1969G>A n.486+14986G>A | |
| 22 | g.32104870C>A | CA411314838 | SLC5A1 | c.1750C>A (p.Pro584Thr) c.1369C>A (p.Pro457Thr) n.591+1968G>T n.486+14985G>T | |
| 22 | g.32104870C= | CA2401804258 | SLC5A1 | c.1750C= (p.Pro584=) c.1369C= (p.Pro457=) n.591+1968G= n.486+14985G= | |
| 22 | g.32104870C>G | CA411314836 | SLC5A1 | c.1750C>G (p.Pro584Ala) c.1369C>G (p.Pro457Ala) n.591+1968G>C n.486+14985G>C | |
| 22 | g.32104870C>T | CA411314837 | SLC5A1 | c.1750C>T (p.Pro584Ser) c.1369C>T (p.Pro457Ser) n.591+1968G>A n.486+14985G>A | dbSNP gnomAD v4 |
| 22 | g.32104871C>A | CA411314839 | SLC5A1 | c.1751C>A (p.Pro584His) c.1370C>A (p.Pro457His) n.591+1967G>T n.486+14984G>T | |
| 22 | g.32104871C= | CA2401804259 | SLC5A1 | c.1751C= (p.Pro584=) c.1370C= (p.Pro457=) n.591+1967G= n.486+14984G= | |
| 22 | g.32104871C>G | CA411314840 | SLC5A1 | c.1751C>G (p.Pro584Arg) c.1370C>G (p.Pro457Arg) n.591+1967G>C n.486+14984G>C | |
| 22 | g.32104871C>T | CA411314841 | SLC5A1 | c.1751C>T (p.Pro584Leu) c.1370C>T (p.Pro457Leu) n.591+1967G>A n.486+14984G>A | dbSNP gnomAD v4 |
| 22 | g.32104872T>A | CA514277459 | SLC5A1 | c.1752T>A (p.Pro584=) c.1371T>A (p.Pro457=) n.591+1966A>T n.486+14983A>T | |
| 22 | g.32104872T>C | CA514277458 | SLC5A1 | c.1752T>C (p.Pro584=) c.1371T>C (p.Pro457=) n.591+1966A>G n.486+14983A>G | |
| 22 | g.32104872T>G | CA10198312 | SLC5A1 | c.1752T>G (p.Pro584=) c.1371T>G (p.Pro457=) n.591+1966A>C n.486+14983A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.32104872T= | CA2401804260 | SLC5A1 | c.1752T= (p.Pro584=) c.1371T= (p.Pro457=) n.591+1966A= n.486+14983A= | |
| 22 | g.32104873A>C | CA411314842 | SLC5A1 | c.1753A>C (p.Lys585Gln) c.1372A>C (p.Lys458Gln) n.591+1965T>G n.486+14982T>G | |
| 22 | g.32104873A>G | CA411314843 | SLC5A1 | c.1753A>G (p.Lys585Glu) c.1372A>G (p.Lys458Glu) n.591+1965T>C n.486+14982T>C | |
| 22 | g.32104873A>T | CA411314844 | SLC5A1 | c.1753A>T (p.Lys585Ter) c.1372A>T (p.Lys458Ter) n.591+1965T>A n.486+14982T>A | |
| 22 | g.32104874A>C | CA411314845 | SLC5A1 | c.1754A>C (p.Lys585Thr) c.1373A>C (p.Lys458Thr) n.591+1964T>G n.486+14981T>G | |
| 22 | g.32104874A>G | CA411314846 | SLC5A1 | c.1754A>G (p.Lys585Arg) c.1373A>G (p.Lys458Arg) n.591+1964T>C n.486+14981T>C | |
| 22 | g.32104874A>T | CA411314847 | SLC5A1 | c.1754A>T (p.Lys585Met) c.1373A>T (p.Lys458Met) n.591+1964T>A n.486+14981T>A | |
| 22 | g.32104875G>A | CA10198313 | SLC5A1 | c.1755G>A (p.Lys585=) c.1374G>A (p.Lys458=) n.591+1963C>T n.486+14980C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.32104875G>C | CA411314849 | SLC5A1 | c.1755G>C (p.Lys585Asn) c.1374G>C (p.Lys458Asn) n.591+1963C>G n.486+14980C>G | |
| 22 | g.32104875G= | CA2401804261 | SLC5A1 | c.1755G= (p.Lys585=) c.1374G= (p.Lys458=) n.591+1963C= n.486+14980C= | |
| 22 | g.32104875G>T | CA411314848 | SLC5A1 | c.1755G>T (p.Lys585Asn) c.1374G>T (p.Lys458Asn) n.591+1963C>A n.486+14980C>A | |
| 22 | g.32104876G>A | CA10198314 | SLC5A1 | c.1756G>A (p.Glu586Lys) c.1375G>A (p.Glu459Lys) n.591+1962C>T n.486+14979C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.32104876G>C | CA411314851 | SLC5A1 | c.1756G>C (p.Glu586Gln) c.1375G>C (p.Glu459Gln) n.591+1962C>G n.486+14979C>G | dbSNP |
| 22 | g.32104876G= | CA2401804262 | SLC5A1 | c.1756G= (p.Glu586=) c.1375G= (p.Glu459=) n.591+1962C= n.486+14979C= | |
| 22 | g.32104876G>T | CA411314850 | SLC5A1 | c.1756G>T (p.Glu586Ter) c.1375G>T (p.Glu459Ter) n.591+1962C>A n.486+14979C>A | |
| 22 | g.32104877A>C | CA411314852 | SLC5A1 | c.1757A>C (p.Glu586Ala) c.1376A>C (p.Glu459Ala) n.591+1961T>G n.486+14978T>G | |
| 22 | g.32104877A>G | CA411314853 | SLC5A1 | c.1757A>G (p.Glu586Gly) c.1376A>G (p.Glu459Gly) n.591+1961T>C n.486+14978T>C | |
| 22 | g.32104877A>T | CA411314854 | SLC5A1 | c.1757A>T (p.Glu586Val) c.1376A>T (p.Glu459Val) n.591+1961T>A n.486+14978T>A | |
| 22 | g.32104878G>A | CA514277460 | SLC5A1 | c.1758G>A (p.Glu586=) c.1377G>A (p.Glu459=) n.591+1960C>T n.486+14977C>T | dbSNP |
| 22 | g.32104878G>C | CA10198315 | SLC5A1 | c.1758G>C (p.Glu586Asp) c.1377G>C (p.Glu459Asp) n.591+1960C>G n.486+14977C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.32104878G= | CA2401804263 | SLC5A1 | c.1758G= (p.Glu586=) c.1377G= (p.Glu459=) n.591+1960C= n.486+14977C= | |
| 22 | g.32104878G>T | CA411314855 | SLC5A1 | c.1758G>T (p.Glu586Asp) c.1377G>T (p.Glu459Asp) n.591+1960C>A n.486+14977C>A | |
| 22 | g.32104879A>C | CA411314856 | SLC5A1 | c.1759A>C (p.Thr587Pro) c.1378A>C (p.Thr460Pro) n.591+1959T>G n.486+14976T>G | |
| 22 | g.32104879A>G | CA411314857 | SLC5A1 | c.1759A>G (p.Thr587Ala) c.1378A>G (p.Thr460Ala) n.591+1959T>C n.486+14976T>C | |
| 22 | g.32104879A>T | CA411314858 | SLC5A1 | c.1759A>T (p.Thr587Ser) c.1378A>T (p.Thr460Ser) n.591+1959T>A n.486+14976T>A | |
| 22 | g.32104880C>A | CA411314859 | SLC5A1 | c.1760C>A (p.Thr587Asn) c.1379C>A (p.Thr460Asn) n.591+1958G>T n.486+14975G>T | |
| 22 | g.32104880C= | CA2401804264 | SLC5A1 | c.1760C= (p.Thr587=) c.1379C= (p.Thr460=) n.591+1958G= n.486+14975G= | |
| 22 | g.32104880C>G | CA411314860 | SLC5A1 | c.1760C>G (p.Thr587Ser) c.1379C>G (p.Thr460Ser) n.591+1958G>C n.486+14975G>C | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.32104880C>T | CA411314861 | SLC5A1 | c.1760C>T (p.Thr587Ile) c.1379C>T (p.Thr460Ile) n.591+1958G>A n.486+14975G>A | dbSNP |
| 22 | g.32104881C>A | CA514277461 | SLC5A1 | c.1761C>A (p.Thr587=) c.1380C>A (p.Thr460=) n.591+1957G>T n.486+14974G>T | |
| 22 | g.32104881C>G | CA514277462 | SLC5A1 | c.1761C>G (p.Thr587=) c.1380C>G (p.Thr460=) n.591+1957G>C n.486+14974G>C | |
| 22 | g.32104881C>T | CA514277463 | SLC5A1 | c.1761C>T (p.Thr587=) c.1380C>T (p.Thr460=) n.591+1957G>A n.486+14974G>A | dbSNP |
| 22 | g.32104882A= | CA2401804265 | SLC5A1 | c.1762A= (p.Ile588=) c.1381A= (p.Ile461=) n.591+1956T= n.486+14973T= | |
| 22 | g.32104882A>C | CA411314863 | SLC5A1 | c.1762A>C (p.Ile588Leu) c.1381A>C (p.Ile461Leu) n.591+1956T>G n.486+14973T>G | gnomAD v4 |
| 22 | g.32104882A>G | CA10198316 | SLC5A1 | c.1762A>G (p.Ile588Val) c.1381A>G (p.Ile461Val) n.591+1956T>C n.486+14973T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.32104882A>T | CA411314862 | SLC5A1 | c.1762A>T (p.Ile588Phe) c.1381A>T (p.Ile461Phe) n.591+1956T>A n.486+14973T>A | |
| 22 | g.32104883T>A | CA411314864 | SLC5A1 | c.1763T>A (p.Ile588Asn) c.1382T>A (p.Ile461Asn) n.591+1955A>T n.486+14972A>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.32104883T>C | CA10198317 | SLC5A1 | c.1763T>C (p.Ile588Thr) c.1382T>C (p.Ile461Thr) n.591+1955A>G n.486+14972A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.32104883T>G | CA411314865 | SLC5A1 | c.1763T>G (p.Ile588Ser) c.1382T>G (p.Ile461Ser) n.591+1955A>C n.486+14972A>C | |
| 22 | g.32104883T= | CA2401804266 | SLC5A1 | c.1763T= (p.Ile588=) c.1382T= (p.Ile461=) n.591+1955A= n.486+14972A= | |
| 22 | g.32104884T>A | CA514277464 | SLC5A1 | c.1764T>A (p.Ile588=) c.1383T>A (p.Ile461=) n.591+1954A>T n.486+14971A>T | |
| 22 | g.32104884T>C | CA514277465 | SLC5A1 | c.1764T>C (p.Ile588=) c.1383T>C (p.Ile461=) n.591+1954A>G n.486+14971A>G | |
| 22 | g.32104884T>G | CA411314866 | SLC5A1 | c.1764T>G (p.Ile588Met) c.1383T>G (p.Ile461Met) n.591+1954A>C n.486+14971A>C | |
| 22 | g.32104885G>A | CA411314867 | SLC5A1 | c.1765G>A (p.Glu589Lys) c.1384G>A (p.Glu462Lys) n.591+1953C>T n.486+14970C>T | |
| 22 | g.32104885G>C | CA323385310 | SLC5A1 | c.1765G>C (p.Glu589Gln) c.1384G>C (p.Glu462Gln) n.591+1953C>G n.486+14970C>G | dbSNP gnomAD v4 |
| 22 | g.32104885G= | CA2401804267 | SLC5A1 | c.1765G= (p.Glu589=) c.1384G= (p.Glu462=) n.591+1953C= n.486+14970C= | |
| 22 | g.32104885G>T | CA411314868 | SLC5A1 | c.1765G>T (p.Glu589Ter) c.1384G>T (p.Glu462Ter) n.591+1953C>A n.486+14970C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.32104886A>C | CA411314869 | SLC5A1 | c.1766A>C (p.Glu589Ala) c.1385A>C (p.Glu462Ala) n.591+1952T>G n.486+14969T>G | |
| 22 | g.32104886A>G | CA411314870 | SLC5A1 | c.1766A>G (p.Glu589Gly) c.1385A>G (p.Glu462Gly) n.591+1952T>C n.486+14969T>C | |
| 22 | g.32104886A>T | CA411314871 | SLC5A1 | c.1766A>T (p.Glu589Val) c.1385A>T (p.Glu462Val) n.591+1952T>A n.486+14969T>A | |
| 22 | g.32104888dup | CA2401804268 | SLC5A1 | c.1768dup (p.Ile590AsnfsTer7) c.1387dup (p.Ile463AsnfsTer7) n.591+1952dup n.486+14969dup | dbSNP |
| 22 | g.32104887A>C | CA411314872 | SLC5A1 | c.1767A>C (p.Glu589Asp) c.1386A>C (p.Glu462Asp) n.591+1951T>G n.486+14968T>G | COSMIC |
| 22 | g.32104887A>G | CA514277466 | SLC5A1 | c.1767A>G (p.Glu589=) c.1386A>G (p.Glu462=) n.591+1951T>C n.486+14968T>C | |
| 22 | g.32104887A>T | CA411314873 | SLC5A1 | c.1767A>T (p.Glu589Asp) c.1386A>T (p.Glu462Asp) n.591+1951T>A n.486+14968T>A | |
| 22 | g.32104888A>C | CA411314876 | SLC5A1 | c.1768A>C (p.Ile590Leu) c.1387A>C (p.Ile463Leu) n.591+1950T>G n.486+14967T>G | |
| 22 | g.32104888A>G | CA411314875 | SLC5A1 | c.1768A>G (p.Ile590Val) c.1387A>G (p.Ile463Val) n.591+1950T>C n.486+14967T>C | |
| 22 | g.32104888A>T | CA411314874 | SLC5A1 | c.1768A>T (p.Ile590Leu) c.1387A>T (p.Ile463Leu) n.591+1950T>A n.486+14967T>A | |
| 22 | g.32104889T>A | CA411314877 | SLC5A1 | c.1769T>A (p.Ile590Lys) c.1388T>A (p.Ile463Lys) n.591+1949A>T n.486+14966A>T | |
| 22 | g.32104889T>C | CA411314878 | SLC5A1 | c.1769T>C (p.Ile590Thr) c.1388T>C (p.Ile463Thr) n.591+1949A>G n.486+14966A>G | |
| 22 | g.32104889T>G | CA411314879 | SLC5A1 | c.1769T>G (p.Ile590Arg) c.1388T>G (p.Ile463Arg) n.591+1949A>C n.486+14966A>C | |
| 22 | g.32104889T= | CA2401804270 | SLC5A1 | c.1769T= (p.Ile590=) c.1388T= (p.Ile463=) n.591+1949A= n.486+14966A= | |
| 22 | g.32104889_32104890delinsTA | CA2401804269 | SLC5A1 | c.1769_1770delinsTA (p.Ile590=) c.1388_1389delinsTA (p.Ile463=) n.591+1948_591+1949delinsTA n.486+14965_486+14966delinsTA | |
| 22 | g.32104890del | CA639080555 | SLC5A1 | c.1770del (p.Ile590MetfsTer23) c.1389del (p.Ile463MetfsTer23) n.591+1948del n.486+14965del | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.32104890A>C | CA514277467 | SLC5A1 | c.1770A>C (p.Ile590=) c.1389A>C (p.Ile463=) n.591+1948T>G n.486+14965T>G | |
| 22 | g.32104890A>G | CA411314880 | SLC5A1 | c.1770A>G (p.Ile590Met) c.1389A>G (p.Ile463Met) n.591+1948T>C n.486+14965T>C | |
| 22 | g.32104890A>T | CA514277468 | SLC5A1 | c.1770A>T (p.Ile590=) c.1389A>T (p.Ile463=) n.591+1948T>A n.486+14965T>A | |
| 22 | g.32104890dup | CA2401804271 | SLC5A1 | c.1770dup (p.Glu591ArgfsTer6) c.1389dup (p.Glu464ArgfsTer6) n.591+1948dup n.486+14965dup | dbSNP gnomAD v4 |
| 22 | g.32104891G>A | CA411314881 | SLC5A1 | c.1771G>A (p.Glu591Lys) c.1390G>A (p.Glu464Lys) n.591+1947C>T n.486+14964C>T | |
| 22 | g.32104891G>C | CA411314882 | SLC5A1 | c.1771G>C (p.Glu591Gln) c.1390G>C (p.Glu464Gln) n.591+1947C>G n.486+14964C>G | |
| 22 | g.32104891G>T | CA411314883 | SLC5A1 | c.1771G>T (p.Glu591Ter) c.1390G>T (p.Glu464Ter) n.591+1947C>A n.486+14964C>A | |
| 22 | g.32104891_32104892insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA | CA2738125509 | SLC5A1 | c.1771_1771+1insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA (n.1771_1771+1insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA) c.1390_1390+1insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA (n.1390_1390+1insAAACACAAGTTCCTGAGAAGAAAAAAGGAATCTTCA) n.591+1946_591+1947insTGAAGATTCCTTTTTTCTTCTCAGGAACTTGTGTTT n.486+14963_486+14964insTGAAGATTCCTTTTTTCTTCTCAGGAACTTGTGTTT | dbSNP |
| 22 | g.32104892G>A | CA10198318 | SLC5A1 | c.1771+1G>A (n.1771+1G>A) c.1390+1G>A (n.1390+1G>A) n.591+1946C>T n.486+14963C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.32104892G>C | CA411314884 | SLC5A1 | c.1771+1G>C (n.1771+1G>C) c.1390+1G>C (n.1390+1G>C) n.591+1946C>G n.486+14963C>G | gnomAD v4 |
| 22 | g.32104892G= | CA2401804272 | SLC5A1 | c.1771+1G= (n.1771+1G=) c.1390+1G= (n.1390+1G=) n.591+1946C= n.486+14963C= | |
| 22 | g.32104892G>T | CA411314885 | SLC5A1 | c.1771+1G>T (n.1771+1G>T) c.1390+1G>T (n.1390+1G>T) n.591+1946C>A n.486+14963C>A | |
| 22 | g.32104893T>A | CA411314886 | SLC5A1 | c.1771+2T>A (n.1771+2T>A) c.1390+2T>A (n.1390+2T>A) n.591+1945A>T n.486+14962A>T | |
| 22 | g.32104893T>C | CA411314887 | SLC5A1 | c.1771+2T>C (n.1771+2T>C) c.1390+2T>C (n.1390+2T>C) n.591+1945A>G n.486+14962A>G | |
| 22 | g.32104893T>G | CA411314888 | SLC5A1 | c.1771+2T>G (n.1771+2T>G) c.1390+2T>G (n.1390+2T>G) n.591+1945A>C n.486+14962A>C | |
| 22 | g.32104894G>A | CA10198319 | SLC5A1 | c.1771+3G>A (n.1771+3G>A) c.1390+3G>A (n.1390+3G>A) n.591+1944C>T n.486+14961C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.32104894G= | CA2401804273 | SLC5A1 | c.1771+3G= (n.1771+3G=) c.1390+3G= (n.1390+3G=) n.591+1944C= n.486+14961C= | |
| 22 | g.32104896C>A | CA2656284915 | SLC5A1 | c.1771+5C>A (n.1771+5C>A) c.1390+5C>A (n.1390+5C>A) n.591+1942G>T n.486+14959G>T | gnomAD v4 |
| 22 | g.32104896C= | CA2401804274 | SLC5A1 | c.1771+5C= (n.1771+5C=) c.1390+5C= (n.1390+5C=) n.591+1942G= n.486+14959G= | |
| 22 | g.32104896C>T | CA323385314 | SLC5A1 | c.1771+5C>T (n.1771+5C>T) c.1390+5C>T (n.1390+5C>T) n.591+1942G>A n.486+14959G>A | dbSNP gnomAD v4 |
| 22 | g.32104900T>C | CA323385319 | SLC5A1 | c.1771+9T>C (n.1771+9T>C) c.1390+9T>C (n.1390+9T>C) n.591+1938A>G n.486+14955A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.32104900T= | CA2401804275 | SLC5A1 | c.1771+9T= (n.1771+9T=) c.1390+9T= (n.1390+9T=) n.591+1938A= n.486+14955A= | |
| 22 | g.32104902A= | CA2401804276 | SLC5A1 | c.1771+11A= (n.1771+11A=) c.1390+11A= (n.1390+11A=) n.591+1936T= n.486+14953T= | |
| 22 | g.32104902A>G | CA2401804277 | SLC5A1 | c.1771+11A>G (n.1771+11A>G) c.1390+11A>G (n.1390+11A>G) n.591+1936T>C n.486+14953T>C | dbSNP |
| 22 | g.32104903C>A | CA2577695873 | SLC5A1 | c.1771+12C>A (n.1771+12C>A) c.1390+12C>A (n.1390+12C>A) n.591+1935G>T n.486+14952G>T | gnomAD v4 |
| 22 | g.32104903C>T | CA2656284917 | SLC5A1 | c.1771+12C>T (n.1771+12C>T) c.1390+12C>T (n.1390+12C>T) n.591+1935G>A n.486+14952G>A | gnomAD v4 |
| 22 | g.32104905del | CA2656284916 | SLC5A1 | c.1771+14del (n.1771+14del) c.1390+14del (n.1390+14del) n.591+1935del n.486+14952del | gnomAD v4 |
| 22 | g.32104904C>A | CA2577695874 | SLC5A1 | c.1771+13C>A (n.1771+13C>A) c.1390+13C>A (n.1390+13C>A) n.591+1934G>T n.486+14951G>T | gnomAD v4 |
| 22 | g.32104905C>A | CA2656284918 | SLC5A1 | c.1771+14C>A (n.1771+14C>A) c.1390+14C>A (n.1390+14C>A) n.591+1933G>T n.486+14950G>T | gnomAD v4 |
| 22 | g.32104905C= | CA2401804278 | SLC5A1 | c.1771+14C= (n.1771+14C=) c.1390+14C= (n.1390+14C=) n.591+1933G= n.486+14950G= | |
| 22 | g.32104905C>G | CA10198320 | SLC5A1 | c.1771+14C>G (n.1771+14C>G) c.1390+14C>G (n.1390+14C>G) n.591+1933G>C n.486+14950G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.32104906A>G | CA2656284919 | SLC5A1 | c.1771+15A>G (n.1771+15A>G) c.1390+15A>G (n.1390+15A>G) n.591+1932T>C n.486+14949T>C | gnomAD v4 |
| 22 | g.32104908A>G | CA2577695875 | SLC5A1 | c.1771+17A>G (n.1771+17A>G) c.1390+17A>G (n.1390+17A>G) n.591+1930T>C n.486+14947T>C | |
| 22 | g.32104910_32104912dup | CA2656284920 | SLC5A1 | c.1771+19_1771+21dup (n.1771+19_1771+21dup) c.1390+19_1390+21dup (n.1390+19_1390+21dup) n.591+1928_591+1930dup n.486+14945_486+14947dup | gnomAD v4 |
| 22 | g.32104910C>A | CA2656284921 | SLC5A1 | c.1771+19C>A (n.1771+19C>A) c.1390+19C>A (n.1390+19C>A) n.591+1928G>T n.486+14945G>T | gnomAD v4 |
| 22 | g.32104910C>T | CA2656284922 | SLC5A1 | c.1771+19C>T (n.1771+19C>T) c.1390+19C>T (n.1390+19C>T) n.591+1928G>A n.486+14945G>A | gnomAD v4 |
| 22 | g.32104911A= | CA2401804279 | SLC5A1 | c.1771+20A= (n.1771+20A=) c.1390+20A= (n.1390+20A=) n.591+1927T= n.486+14944T= | |
| 22 | g.32104911A>G | CA10198321 | SLC5A1 | c.1771+20A>G (n.1771+20A>G) c.1390+20A>G (n.1390+20A>G) n.591+1927T>C n.486+14944T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.32104912G>A | CA2577695876 | SLC5A1 | c.1771+21G>A (n.1771+21G>A) c.1390+21G>A (n.1390+21G>A) n.591+1926C>T n.486+14943C>T | |
| 22 | g.32104912G>C | CA639080569 | SLC5A1 | c.1771+21G>C (n.1771+21G>C) c.1390+21G>C (n.1390+21G>C) n.591+1926C>G n.486+14943C>G | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.32104912G= | CA2401804280 | SLC5A1 | c.1771+21G= (n.1771+21G=) c.1390+21G= (n.1390+21G=) n.591+1926C= n.486+14943C= | |
| 22 | g.32104913A= | CA2401804281 | SLC5A1 | c.1771+22A= (n.1771+22A=) c.1390+22A= (n.1390+22A=) n.591+1925T= n.486+14942T= | |
| 22 | g.32104913A>G | CA639080574 | SLC5A1 | c.1771+22A>G (n.1771+22A>G) c.1390+22A>G (n.1390+22A>G) n.591+1925T>C n.486+14942T>C | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.32104913A>T | CA323385339 | SLC5A1 | c.1771+22A>T (n.1771+22A>T) c.1390+22A>T (n.1390+22A>T) n.591+1925T>A n.486+14942T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.32104914T>A | CA658161679 | SLC5A1 | c.1771+23T>A (n.1771+23T>A) c.1390+23T>A (n.1390+23T>A) n.591+1924A>T n.486+14941A>T | COSMIC |
| 22 | g.32104914T>C | CA2577695877 | SLC5A1 | c.1771+23T>C (n.1771+23T>C) c.1390+23T>C (n.1390+23T>C) n.591+1924A>G n.486+14941A>G | gnomAD v4 |
| 22 | g.32104915C>G | CA2656284923 | SLC5A1 | c.1771+24C>G (n.1771+24C>G) c.1390+24C>G (n.1390+24C>G) n.591+1923G>C n.486+14940G>C | gnomAD v4 |
| 22 | g.32104919A>T | CA2656284924 | SLC5A1 | c.1771+28A>T (n.1771+28A>T) c.1390+28A>T (n.1390+28A>T) n.591+1919T>A n.486+14936T>A | gnomAD v4 |