WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.89348095G>A | CA115871 | SECISBP2 | c.1619G>A (p.Arg540Gln) c.1400G>A (p.Arg467Gln) c.1415G>A (p.Arg472Gln) c.1616G>A (p.Arg539Gln) c.1502G>A (p.Arg501Gln) c.722G>A (p.Arg241Gln) c.1325G>A (p.Arg442Gln) c.1301G>A (p.Arg434Gln) c.1298G>A (p.Arg433Gln) n.1777G>A c.1505G>A (p.Arg502Gln) c.1412G>A (p.Arg471Gln) c.734G>A (p.Arg245Gln) c.1529G>A (p.Arg510Gln) c.1283G>A (p.Arg428Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.89348095G>C | CA373989093 | SECISBP2 | c.1619G>C (p.Arg540Pro) c.1400G>C (p.Arg467Pro) c.1415G>C (p.Arg472Pro) c.1616G>C (p.Arg539Pro) c.1502G>C (p.Arg501Pro) c.722G>C (p.Arg241Pro) c.1325G>C (p.Arg442Pro) c.1301G>C (p.Arg434Pro) c.1298G>C (p.Arg433Pro) n.1777G>C c.1505G>C (p.Arg502Pro) c.1412G>C (p.Arg471Pro) c.734G>C (p.Arg245Pro) c.1529G>C (p.Arg510Pro) c.1283G>C (p.Arg428Pro) | |
| 9 | g.89348095G= | CA1862787986 | SECISBP2 | c.1619G= (p.Arg540=) c.1400G= (p.Arg467=) c.1415G= (p.Arg472=) c.1616G= (p.Arg539=) c.1502G= (p.Arg501=) c.722G= (p.Arg241=) c.1325G= (p.Arg442=) c.1301G= (p.Arg434=) c.1298G= (p.Arg433=) n.1777G= c.1505G= (p.Arg502=) c.1412G= (p.Arg471=) c.734G= (p.Arg245=) c.1529G= (p.Arg510=) c.1283G= (p.Arg428=) | |
| 9 | g.89348095G>T | CA373989094 | SECISBP2 | c.1619G>T (p.Arg540Leu) c.1400G>T (p.Arg467Leu) c.1415G>T (p.Arg472Leu) c.1616G>T (p.Arg539Leu) c.1502G>T (p.Arg501Leu) c.722G>T (p.Arg241Leu) c.1325G>T (p.Arg442Leu) c.1301G>T (p.Arg434Leu) c.1298G>T (p.Arg433Leu) n.1777G>T c.1505G>T (p.Arg502Leu) c.1412G>T (p.Arg471Leu) c.734G>T (p.Arg245Leu) c.1529G>T (p.Arg510Leu) c.1283G>T (p.Arg428Leu) | gnomAD v4 |
| 9 | g.89348096G>A | CA465790490 | SECISBP2 | c.1620G>A (p.Arg540=) c.1401G>A (p.Arg467=) c.1416G>A (p.Arg472=) c.1617G>A (p.Arg539=) c.1503G>A (p.Arg501=) c.723G>A (p.Arg241=) c.1326G>A (p.Arg442=) c.1302G>A (p.Arg434=) c.1299G>A (p.Arg433=) n.1778G>A c.1506G>A (p.Arg502=) c.1413G>A (p.Arg471=) c.735G>A (p.Arg245=) c.1530G>A (p.Arg510=) c.1284G>A (p.Arg428=) | |
| 9 | g.89348096G>C | CA465790492 | SECISBP2 | c.1620G>C (p.Arg540=) c.1401G>C (p.Arg467=) c.1416G>C (p.Arg472=) c.1617G>C (p.Arg539=) c.1503G>C (p.Arg501=) c.723G>C (p.Arg241=) c.1326G>C (p.Arg442=) c.1302G>C (p.Arg434=) c.1299G>C (p.Arg433=) n.1778G>C c.1506G>C (p.Arg502=) c.1413G>C (p.Arg471=) c.735G>C (p.Arg245=) c.1530G>C (p.Arg510=) c.1284G>C (p.Arg428=) | |
| 9 | g.89348096G= | CA1862787987 | SECISBP2 | c.1620G= (p.Arg540=) c.1401G= (p.Arg467=) c.1416G= (p.Arg472=) c.1617G= (p.Arg539=) c.1503G= (p.Arg501=) c.723G= (p.Arg241=) c.1326G= (p.Arg442=) c.1302G= (p.Arg434=) c.1299G= (p.Arg433=) n.1778G= c.1506G= (p.Arg502=) c.1413G= (p.Arg471=) c.735G= (p.Arg245=) c.1530G= (p.Arg510=) c.1284G= (p.Arg428=) | |
| 9 | g.89348096G>T | CA465790493 | SECISBP2 | c.1620G>T (p.Arg540=) c.1401G>T (p.Arg467=) c.1416G>T (p.Arg472=) c.1617G>T (p.Arg539=) c.1503G>T (p.Arg501=) c.723G>T (p.Arg241=) c.1326G>T (p.Arg442=) c.1302G>T (p.Arg434=) c.1299G>T (p.Arg433=) n.1778G>T c.1506G>T (p.Arg502=) c.1413G>T (p.Arg471=) c.735G>T (p.Arg245=) c.1530G>T (p.Arg510=) c.1284G>T (p.Arg428=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.89348097C>A | CA373989095 | SECISBP2 | c.1621C>A (p.Gln541Lys) c.1402C>A (p.Gln468Lys) c.1417C>A (p.Gln473Lys) c.1618C>A (p.Gln540Lys) c.1504C>A (p.Gln502Lys) c.724C>A (p.Gln242Lys) c.1327C>A (p.Gln443Lys) c.1303C>A (p.Gln435Lys) c.1300C>A (p.Gln434Lys) n.1779C>A c.1507C>A (p.Gln503Lys) c.1414C>A (p.Gln472Lys) c.736C>A (p.Gln246Lys) c.1531C>A (p.Gln511Lys) c.1285C>A (p.Gln429Lys) | |
| 9 | g.89348097C>G | CA373989096 | SECISBP2 | c.1621C>G (p.Gln541Glu) c.1402C>G (p.Gln468Glu) c.1417C>G (p.Gln473Glu) c.1618C>G (p.Gln540Glu) c.1504C>G (p.Gln502Glu) c.724C>G (p.Gln242Glu) c.1327C>G (p.Gln443Glu) c.1303C>G (p.Gln435Glu) c.1300C>G (p.Gln434Glu) n.1779C>G c.1507C>G (p.Gln503Glu) c.1414C>G (p.Gln472Glu) c.736C>G (p.Gln246Glu) c.1531C>G (p.Gln511Glu) c.1285C>G (p.Gln429Glu) | |
| 9 | g.89348097C>T | CA373989097 | SECISBP2 | c.1621C>T (p.Gln541Ter) c.1402C>T (p.Gln468Ter) c.1417C>T (p.Gln473Ter) c.1618C>T (p.Gln540Ter) c.1504C>T (p.Gln502Ter) c.724C>T (p.Gln242Ter) c.1327C>T (p.Gln443Ter) c.1303C>T (p.Gln435Ter) c.1300C>T (p.Gln434Ter) n.1779C>T c.1507C>T (p.Gln503Ter) c.1414C>T (p.Gln472Ter) c.736C>T (p.Gln246Ter) c.1531C>T (p.Gln511Ter) c.1285C>T (p.Gln429Ter) | |
| 9 | g.89348098A= | CA1862787988 | SECISBP2 | c.1622A= (p.Gln541=) c.1403A= (p.Gln468=) c.1418A= (p.Gln473=) c.1619A= (p.Gln540=) c.1505A= (p.Gln502=) c.725A= (p.Gln242=) c.1328A= (p.Gln443=) c.1304A= (p.Gln435=) c.1301A= (p.Gln434=) n.1780A= c.1508A= (p.Gln503=) c.1415A= (p.Gln472=) c.737A= (p.Gln246=) c.1532A= (p.Gln511=) c.1286A= (p.Gln429=) | |
| 9 | g.89348098A>C | CA373989099 | SECISBP2 | c.1622A>C (p.Gln541Pro) c.1403A>C (p.Gln468Pro) c.1418A>C (p.Gln473Pro) c.1619A>C (p.Gln540Pro) c.1505A>C (p.Gln502Pro) c.725A>C (p.Gln242Pro) c.1328A>C (p.Gln443Pro) c.1304A>C (p.Gln435Pro) c.1301A>C (p.Gln434Pro) n.1780A>C c.1508A>C (p.Gln503Pro) c.1415A>C (p.Gln472Pro) c.737A>C (p.Gln246Pro) c.1532A>C (p.Gln511Pro) c.1286A>C (p.Gln429Pro) | |
| 9 | g.89348098A>G | CA5117515 | SECISBP2 | c.1622A>G (p.Gln541Arg) c.1403A>G (p.Gln468Arg) c.1418A>G (p.Gln473Arg) c.1619A>G (p.Gln540Arg) c.1505A>G (p.Gln502Arg) c.725A>G (p.Gln242Arg) c.1328A>G (p.Gln443Arg) c.1304A>G (p.Gln435Arg) c.1301A>G (p.Gln434Arg) n.1780A>G c.1508A>G (p.Gln503Arg) c.1415A>G (p.Gln472Arg) c.737A>G (p.Gln246Arg) c.1532A>G (p.Gln511Arg) c.1286A>G (p.Gln429Arg) | dbSNP ExAC gnomAD v4 |
| 9 | g.89348098A>T | CA373989098 | SECISBP2 | c.1622A>T (p.Gln541Leu) c.1403A>T (p.Gln468Leu) c.1418A>T (p.Gln473Leu) c.1619A>T (p.Gln540Leu) c.1505A>T (p.Gln502Leu) c.725A>T (p.Gln242Leu) c.1328A>T (p.Gln443Leu) c.1304A>T (p.Gln435Leu) c.1301A>T (p.Gln434Leu) n.1780A>T c.1508A>T (p.Gln503Leu) c.1415A>T (p.Gln472Leu) c.737A>T (p.Gln246Leu) c.1532A>T (p.Gln511Leu) c.1286A>T (p.Gln429Leu) | |
| 9 | g.89348099A>C | CA373989100 | SECISBP2 | c.1623A>C (p.Gln541His) c.1404A>C (p.Gln468His) c.1419A>C (p.Gln473His) c.1620A>C (p.Gln540His) c.1506A>C (p.Gln502His) c.726A>C (p.Gln242His) c.1329A>C (p.Gln443His) c.1305A>C (p.Gln435His) c.1302A>C (p.Gln434His) n.1781A>C c.1509A>C (p.Gln503His) c.1416A>C (p.Gln472His) c.738A>C (p.Gln246His) c.1533A>C (p.Gln511His) c.1287A>C (p.Gln429His) | |
| 9 | g.89348099A>G | CA465790494 | SECISBP2 | c.1623A>G (p.Gln541=) c.1404A>G (p.Gln468=) c.1419A>G (p.Gln473=) c.1620A>G (p.Gln540=) c.1506A>G (p.Gln502=) c.726A>G (p.Gln242=) c.1329A>G (p.Gln443=) c.1305A>G (p.Gln435=) c.1302A>G (p.Gln434=) n.1781A>G c.1509A>G (p.Gln503=) c.1416A>G (p.Gln472=) c.738A>G (p.Gln246=) c.1533A>G (p.Gln511=) c.1287A>G (p.Gln429=) | gnomAD v4 |
| 9 | g.89348099A>T | CA373989101 | SECISBP2 | c.1623A>T (p.Gln541His) c.1404A>T (p.Gln468His) c.1419A>T (p.Gln473His) c.1620A>T (p.Gln540His) c.1506A>T (p.Gln502His) c.726A>T (p.Gln242His) c.1329A>T (p.Gln443His) c.1305A>T (p.Gln435His) c.1302A>T (p.Gln434His) n.1781A>T c.1509A>T (p.Gln503His) c.1416A>T (p.Gln472His) c.738A>T (p.Gln246His) c.1533A>T (p.Gln511His) c.1287A>T (p.Gln429His) | |
| 9 | g.89348100G>A | CA5117516 | SECISBP2 | c.1624G>A (p.Glu542Lys) c.1405G>A (p.Glu469Lys) c.1420G>A (p.Glu474Lys) c.1621G>A (p.Glu541Lys) c.1507G>A (p.Glu503Lys) c.727G>A (p.Glu243Lys) c.1330G>A (p.Glu444Lys) c.1306G>A (p.Glu436Lys) c.1303G>A (p.Glu435Lys) n.1782G>A c.1510G>A (p.Glu504Lys) c.1417G>A (p.Glu473Lys) c.739G>A (p.Glu247Lys) c.1534G>A (p.Glu512Lys) c.1288G>A (p.Glu430Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.89348100G>C | CA373989102 | SECISBP2 | c.1624G>C (p.Glu542Gln) c.1405G>C (p.Glu469Gln) c.1420G>C (p.Glu474Gln) c.1621G>C (p.Glu541Gln) c.1507G>C (p.Glu503Gln) c.727G>C (p.Glu243Gln) c.1330G>C (p.Glu444Gln) c.1306G>C (p.Glu436Gln) c.1303G>C (p.Glu435Gln) n.1782G>C c.1510G>C (p.Glu504Gln) c.1417G>C (p.Glu473Gln) c.739G>C (p.Glu247Gln) c.1534G>C (p.Glu512Gln) c.1288G>C (p.Glu430Gln) | |
| 9 | g.89348100G= | CA1862787989 | SECISBP2 | c.1624G= (p.Glu542=) c.1405G= (p.Glu469=) c.1420G= (p.Glu474=) c.1621G= (p.Glu541=) c.1507G= (p.Glu503=) c.727G= (p.Glu243=) c.1330G= (p.Glu444=) c.1306G= (p.Glu436=) c.1303G= (p.Glu435=) n.1782G= c.1510G= (p.Glu504=) c.1417G= (p.Glu473=) c.739G= (p.Glu247=) c.1534G= (p.Glu512=) c.1288G= (p.Glu430=) | |
| 9 | g.89348100G>T | CA373989103 | SECISBP2 | c.1624G>T (p.Glu542Ter) c.1405G>T (p.Glu469Ter) c.1420G>T (p.Glu474Ter) c.1621G>T (p.Glu541Ter) c.1507G>T (p.Glu503Ter) c.727G>T (p.Glu243Ter) c.1330G>T (p.Glu444Ter) c.1306G>T (p.Glu436Ter) c.1303G>T (p.Glu435Ter) n.1782G>T c.1510G>T (p.Glu504Ter) c.1417G>T (p.Glu473Ter) c.739G>T (p.Glu247Ter) c.1534G>T (p.Glu512Ter) c.1288G>T (p.Glu430Ter) | |
| 9 | g.89348101A>C | CA373989104 | SECISBP2 | c.1625A>C (p.Glu542Ala) c.1406A>C (p.Glu469Ala) c.1421A>C (p.Glu474Ala) c.1622A>C (p.Glu541Ala) c.1508A>C (p.Glu503Ala) c.728A>C (p.Glu243Ala) c.1331A>C (p.Glu444Ala) c.1307A>C (p.Glu436Ala) c.1304A>C (p.Glu435Ala) n.1783A>C c.1511A>C (p.Glu504Ala) c.1418A>C (p.Glu473Ala) c.740A>C (p.Glu247Ala) c.1535A>C (p.Glu512Ala) c.1289A>C (p.Glu430Ala) | gnomAD v4 |
| 9 | g.89348101A>G | CA373989105 | SECISBP2 | c.1625A>G (p.Glu542Gly) c.1406A>G (p.Glu469Gly) c.1421A>G (p.Glu474Gly) c.1622A>G (p.Glu541Gly) c.1508A>G (p.Glu503Gly) c.728A>G (p.Glu243Gly) c.1331A>G (p.Glu444Gly) c.1307A>G (p.Glu436Gly) c.1304A>G (p.Glu435Gly) n.1783A>G c.1511A>G (p.Glu504Gly) c.1418A>G (p.Glu473Gly) c.740A>G (p.Glu247Gly) c.1535A>G (p.Glu512Gly) c.1289A>G (p.Glu430Gly) | gnomAD v4 |
| 9 | g.89348101A>T | CA373989106 | SECISBP2 | c.1625A>T (p.Glu542Val) c.1406A>T (p.Glu469Val) c.1421A>T (p.Glu474Val) c.1622A>T (p.Glu541Val) c.1508A>T (p.Glu503Val) c.728A>T (p.Glu243Val) c.1331A>T (p.Glu444Val) c.1307A>T (p.Glu436Val) c.1304A>T (p.Glu435Val) n.1783A>T c.1511A>T (p.Glu504Val) c.1418A>T (p.Glu473Val) c.740A>T (p.Glu247Val) c.1535A>T (p.Glu512Val) c.1289A>T (p.Glu430Val) | |
| 9 | g.89348102G>A | CA465790497 | SECISBP2 | c.1626G>A (p.Glu542=) c.1407G>A (p.Glu469=) c.1422G>A (p.Glu474=) c.1623G>A (p.Glu541=) c.1509G>A (p.Glu503=) c.729G>A (p.Glu243=) c.1332G>A (p.Glu444=) c.1308G>A (p.Glu436=) c.1305G>A (p.Glu435=) n.1784G>A c.1512G>A (p.Glu504=) c.1419G>A (p.Glu473=) c.741G>A (p.Glu247=) c.1536G>A (p.Glu512=) c.1290G>A (p.Glu430=) | |
| 9 | g.89348102G>C | CA373989107 | SECISBP2 | c.1626G>C (p.Glu542Asp) c.1407G>C (p.Glu469Asp) c.1422G>C (p.Glu474Asp) c.1623G>C (p.Glu541Asp) c.1509G>C (p.Glu503Asp) c.729G>C (p.Glu243Asp) c.1332G>C (p.Glu444Asp) c.1308G>C (p.Glu436Asp) c.1305G>C (p.Glu435Asp) n.1784G>C c.1512G>C (p.Glu504Asp) c.1419G>C (p.Glu473Asp) c.741G>C (p.Glu247Asp) c.1536G>C (p.Glu512Asp) c.1290G>C (p.Glu430Asp) | |
| 9 | g.89348102G>T | CA373989108 | SECISBP2 | c.1626G>T (p.Glu542Asp) c.1407G>T (p.Glu469Asp) c.1422G>T (p.Glu474Asp) c.1623G>T (p.Glu541Asp) c.1509G>T (p.Glu503Asp) c.729G>T (p.Glu243Asp) c.1332G>T (p.Glu444Asp) c.1308G>T (p.Glu436Asp) c.1305G>T (p.Glu435Asp) n.1784G>T c.1512G>T (p.Glu504Asp) c.1419G>T (p.Glu473Asp) c.741G>T (p.Glu247Asp) c.1536G>T (p.Glu512Asp) c.1290G>T (p.Glu430Asp) | |
| 9 | g.89348103A>C | CA465790501 | SECISBP2 | c.1627A>C (p.Arg543=) c.1408A>C (p.Arg470=) c.1423A>C (p.Arg475=) c.1624A>C (p.Arg542=) c.1510A>C (p.Arg504=) c.730A>C (p.Arg244=) c.1333A>C (p.Arg445=) c.1309A>C (p.Arg437=) c.1306A>C (p.Arg436=) n.1785A>C c.1513A>C (p.Arg505=) c.1420A>C (p.Arg474=) c.742A>C (p.Arg248=) c.1537A>C (p.Arg513=) c.1291A>C (p.Arg431=) | |
| 9 | g.89348103A>G | CA373989109 | SECISBP2 | c.1627A>G (p.Arg543Gly) c.1408A>G (p.Arg470Gly) c.1423A>G (p.Arg475Gly) c.1624A>G (p.Arg542Gly) c.1510A>G (p.Arg504Gly) c.730A>G (p.Arg244Gly) c.1333A>G (p.Arg445Gly) c.1309A>G (p.Arg437Gly) c.1306A>G (p.Arg436Gly) n.1785A>G c.1513A>G (p.Arg505Gly) c.1420A>G (p.Arg474Gly) c.742A>G (p.Arg248Gly) c.1537A>G (p.Arg513Gly) c.1291A>G (p.Arg431Gly) | |
| 9 | g.89348103A>T | CA373989110 | SECISBP2 | c.1627A>T (p.Arg543Ter) c.1408A>T (p.Arg470Ter) c.1423A>T (p.Arg475Ter) c.1624A>T (p.Arg542Ter) c.1510A>T (p.Arg504Ter) c.730A>T (p.Arg244Ter) c.1333A>T (p.Arg445Ter) c.1309A>T (p.Arg437Ter) c.1306A>T (p.Arg436Ter) n.1785A>T c.1513A>T (p.Arg505Ter) c.1420A>T (p.Arg474Ter) c.742A>T (p.Arg248Ter) c.1537A>T (p.Arg513Ter) c.1291A>T (p.Arg431Ter) | |
| 9 | g.89348104G>A | CA373989111 | SECISBP2 | c.1628G>A (p.Arg543Lys) c.1409G>A (p.Arg470Lys) c.1424G>A (p.Arg475Lys) c.1625G>A (p.Arg542Lys) c.1511G>A (p.Arg504Lys) c.731G>A (p.Arg244Lys) c.1334G>A (p.Arg445Lys) c.1310G>A (p.Arg437Lys) c.1307G>A (p.Arg436Lys) n.1786G>A c.1514G>A (p.Arg505Lys) c.1421G>A (p.Arg474Lys) c.743G>A (p.Arg248Lys) c.1538G>A (p.Arg513Lys) c.1292G>A (p.Arg431Lys) | |
| 9 | g.89348104G>C | CA373989113 | SECISBP2 | c.1628G>C (p.Arg543Thr) c.1409G>C (p.Arg470Thr) c.1424G>C (p.Arg475Thr) c.1625G>C (p.Arg542Thr) c.1511G>C (p.Arg504Thr) c.731G>C (p.Arg244Thr) c.1334G>C (p.Arg445Thr) c.1310G>C (p.Arg437Thr) c.1307G>C (p.Arg436Thr) n.1786G>C c.1514G>C (p.Arg505Thr) c.1421G>C (p.Arg474Thr) c.743G>C (p.Arg248Thr) c.1538G>C (p.Arg513Thr) c.1292G>C (p.Arg431Thr) | gnomAD v4 |
| 9 | g.89348104G>T | CA373989112 | SECISBP2 | c.1628G>T (p.Arg543Ile) c.1409G>T (p.Arg470Ile) c.1424G>T (p.Arg475Ile) c.1625G>T (p.Arg542Ile) c.1511G>T (p.Arg504Ile) c.731G>T (p.Arg244Ile) c.1334G>T (p.Arg445Ile) c.1310G>T (p.Arg437Ile) c.1307G>T (p.Arg436Ile) n.1786G>T c.1514G>T (p.Arg505Ile) c.1421G>T (p.Arg474Ile) c.743G>T (p.Arg248Ile) c.1538G>T (p.Arg513Ile) c.1292G>T (p.Arg431Ile) | |
| 9 | g.89348105A= | CA1862787990 | SECISBP2 | c.1629A= (p.Arg543=) c.1410A= (p.Arg470=) c.1425A= (p.Arg475=) c.1626A= (p.Arg542=) c.1512A= (p.Arg504=) c.732A= (p.Arg244=) c.1335A= (p.Arg445=) c.1311A= (p.Arg437=) c.1308A= (p.Arg436=) n.1787A= c.1515A= (p.Arg505=) c.1422A= (p.Arg474=) c.744A= (p.Arg248=) c.1539A= (p.Arg513=) c.1293A= (p.Arg431=) | |
| 9 | g.89348105A>C | CA373989114 | SECISBP2 | c.1629A>C (p.Arg543Ser) c.1410A>C (p.Arg470Ser) c.1425A>C (p.Arg475Ser) c.1626A>C (p.Arg542Ser) c.1512A>C (p.Arg504Ser) c.732A>C (p.Arg244Ser) c.1335A>C (p.Arg445Ser) c.1311A>C (p.Arg437Ser) c.1308A>C (p.Arg436Ser) n.1787A>C c.1515A>C (p.Arg505Ser) c.1422A>C (p.Arg474Ser) c.744A>C (p.Arg248Ser) c.1539A>C (p.Arg513Ser) c.1293A>C (p.Arg431Ser) | |
| 9 | g.89348105A>G | CA5117517 | SECISBP2 | c.1629A>G (p.Arg543=) c.1410A>G (p.Arg470=) c.1425A>G (p.Arg475=) c.1626A>G (p.Arg542=) c.1512A>G (p.Arg504=) c.732A>G (p.Arg244=) c.1335A>G (p.Arg445=) c.1311A>G (p.Arg437=) c.1308A>G (p.Arg436=) n.1787A>G c.1515A>G (p.Arg505=) c.1422A>G (p.Arg474=) c.744A>G (p.Arg248=) c.1539A>G (p.Arg513=) c.1293A>G (p.Arg431=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.89348105A>T | CA373989115 | SECISBP2 | c.1629A>T (p.Arg543Ser) c.1410A>T (p.Arg470Ser) c.1425A>T (p.Arg475Ser) c.1626A>T (p.Arg542Ser) c.1512A>T (p.Arg504Ser) c.732A>T (p.Arg244Ser) c.1335A>T (p.Arg445Ser) c.1311A>T (p.Arg437Ser) c.1308A>T (p.Arg436Ser) n.1787A>T c.1515A>T (p.Arg505Ser) c.1422A>T (p.Arg474Ser) c.744A>T (p.Arg248Ser) c.1539A>T (p.Arg513Ser) c.1293A>T (p.Arg431Ser) | |
| 9 | g.89348106A= | CA1862787991 | SECISBP2 | c.1630A= (p.Lys544=) c.1411A= (p.Lys471=) c.1426A= (p.Lys476=) c.1627A= (p.Lys543=) c.1513A= (p.Lys505=) c.733A= (p.Lys245=) c.1336A= (p.Lys446=) c.1312A= (p.Lys438=) c.1309A= (p.Lys437=) n.1788A= c.1516A= (p.Lys506=) c.1423A= (p.Lys475=) c.745A= (p.Lys249=) c.1540A= (p.Lys514=) c.1294A= (p.Lys432=) | |
| 9 | g.89348106A>C | CA373989116 | SECISBP2 | c.1630A>C (p.Lys544Gln) c.1411A>C (p.Lys471Gln) c.1426A>C (p.Lys476Gln) c.1627A>C (p.Lys543Gln) c.1513A>C (p.Lys505Gln) c.733A>C (p.Lys245Gln) c.1336A>C (p.Lys446Gln) c.1312A>C (p.Lys438Gln) c.1309A>C (p.Lys437Gln) n.1788A>C c.1516A>C (p.Lys506Gln) c.1423A>C (p.Lys475Gln) c.745A>C (p.Lys249Gln) c.1540A>C (p.Lys514Gln) c.1294A>C (p.Lys432Gln) | |
| 9 | g.89348106A>G | CA5117518 | SECISBP2 | c.1630A>G (p.Lys544Glu) c.1411A>G (p.Lys471Glu) c.1426A>G (p.Lys476Glu) c.1627A>G (p.Lys543Glu) c.1513A>G (p.Lys505Glu) c.733A>G (p.Lys245Glu) c.1336A>G (p.Lys446Glu) c.1312A>G (p.Lys438Glu) c.1309A>G (p.Lys437Glu) n.1788A>G c.1516A>G (p.Lys506Glu) c.1423A>G (p.Lys475Glu) c.745A>G (p.Lys249Glu) c.1540A>G (p.Lys514Glu) c.1294A>G (p.Lys432Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.89348106A>T | CA373989117 | SECISBP2 | c.1630A>T (p.Lys544Ter) c.1411A>T (p.Lys471Ter) c.1426A>T (p.Lys476Ter) c.1627A>T (p.Lys543Ter) c.1513A>T (p.Lys505Ter) c.733A>T (p.Lys245Ter) c.1336A>T (p.Lys446Ter) c.1312A>T (p.Lys438Ter) c.1309A>T (p.Lys437Ter) n.1788A>T c.1516A>T (p.Lys506Ter) c.1423A>T (p.Lys475Ter) c.745A>T (p.Lys249Ter) c.1540A>T (p.Lys514Ter) c.1294A>T (p.Lys432Ter) | |
| 9 | g.89348106_89348109delinsAAGC | CA1862787992 | SECISBP2 | c.1630_1633delinsAAGC (p.Lys544=) c.1411_1414delinsAAGC (p.Lys471=) c.1426_1429delinsAAGC (p.Lys476=) c.1627_1630delinsAAGC (p.Lys543=) c.1513_1516delinsAAGC (p.Lys505=) c.733_736delinsAAGC (p.Lys245=) c.1336_1339delinsAAGC (p.Lys446=) c.1312_1315delinsAAGC (p.Lys438=) c.1309_1312delinsAAGC (p.Lys437=) n.1788_1791delinsAAGC c.1516_1519delinsAAGC (p.Lys506=) c.1423_1426delinsAAGC (p.Lys475=) c.745_748delinsAAGC (p.Lys249=) c.1540_1543delinsAAGC (p.Lys514=) c.1294_1297delinsAAGC (p.Lys432=) | |
| 9 | g.89348107A= | CA1862787993 | SECISBP2 | c.1631A= (p.Lys544=) c.1412A= (p.Lys471=) c.1427A= (p.Lys476=) c.1628A= (p.Lys543=) c.1514A= (p.Lys505=) c.734A= (p.Lys245=) c.1337A= (p.Lys446=) c.1313A= (p.Lys438=) c.1310A= (p.Lys437=) n.1789A= c.1517A= (p.Lys506=) c.1424A= (p.Lys475=) c.746A= (p.Lys249=) c.1541A= (p.Lys514=) c.1295A= (p.Lys432=) | |
| 9 | g.89348107A>C | CA373989118 | SECISBP2 | c.1631A>C (p.Lys544Thr) c.1412A>C (p.Lys471Thr) c.1427A>C (p.Lys476Thr) c.1628A>C (p.Lys543Thr) c.1514A>C (p.Lys505Thr) c.734A>C (p.Lys245Thr) c.1337A>C (p.Lys446Thr) c.1313A>C (p.Lys438Thr) c.1310A>C (p.Lys437Thr) n.1789A>C c.1517A>C (p.Lys506Thr) c.1424A>C (p.Lys475Thr) c.746A>C (p.Lys249Thr) c.1541A>C (p.Lys514Thr) c.1295A>C (p.Lys432Thr) | |
| 9 | g.89348107A>G | CA373989119 | SECISBP2 | c.1631A>G (p.Lys544Arg) c.1412A>G (p.Lys471Arg) c.1427A>G (p.Lys476Arg) c.1628A>G (p.Lys543Arg) c.1514A>G (p.Lys505Arg) c.734A>G (p.Lys245Arg) c.1337A>G (p.Lys446Arg) c.1313A>G (p.Lys438Arg) c.1310A>G (p.Lys437Arg) n.1789A>G c.1517A>G (p.Lys506Arg) c.1424A>G (p.Lys475Arg) c.746A>G (p.Lys249Arg) c.1541A>G (p.Lys514Arg) c.1295A>G (p.Lys432Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.89348107A>T | CA373989120 | SECISBP2 | c.1631A>T (p.Lys544Met) c.1412A>T (p.Lys471Met) c.1427A>T (p.Lys476Met) c.1628A>T (p.Lys543Met) c.1514A>T (p.Lys505Met) c.734A>T (p.Lys245Met) c.1337A>T (p.Lys446Met) c.1313A>T (p.Lys438Met) c.1310A>T (p.Lys437Met) n.1789A>T c.1517A>T (p.Lys506Met) c.1424A>T (p.Lys475Met) c.746A>T (p.Lys249Met) c.1541A>T (p.Lys514Met) c.1295A>T (p.Lys432Met) | |
| 9 | g.89348110_89348112del | CA589141142 | SECISBP2 | c.1634_1636del (p.Gln545del) c.1415_1417del (p.Gln472del) c.1430_1432del (p.Gln477del) c.1631_1633del (p.Gln544del) c.1517_1519del (p.Gln506del) c.737_739del (p.Gln246del) c.1340_1342del (p.Gln447del) c.1316_1318del (p.Gln439del) c.1313_1315del (p.Gln438del) n.1792_1794del c.1520_1522del (p.Gln507del) c.1427_1429del (p.Gln476del) c.749_751del (p.Gln250del) c.1544_1546del (p.Gln515del) c.1298_1300del (p.Gln433del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.89348108G>A | CA465790505 | SECISBP2 | c.1632G>A (p.Lys544=) c.1413G>A (p.Lys471=) c.1428G>A (p.Lys476=) c.1629G>A (p.Lys543=) c.1515G>A (p.Lys505=) c.735G>A (p.Lys245=) c.1338G>A (p.Lys446=) c.1314G>A (p.Lys438=) c.1311G>A (p.Lys437=) n.1790G>A c.1518G>A (p.Lys506=) c.1425G>A (p.Lys475=) c.747G>A (p.Lys249=) c.1542G>A (p.Lys514=) c.1296G>A (p.Lys432=) | |
| 9 | g.89348108G>C | CA373989121 | SECISBP2 | c.1632G>C (p.Lys544Asn) c.1413G>C (p.Lys471Asn) c.1428G>C (p.Lys476Asn) c.1629G>C (p.Lys543Asn) c.1515G>C (p.Lys505Asn) c.735G>C (p.Lys245Asn) c.1338G>C (p.Lys446Asn) c.1314G>C (p.Lys438Asn) c.1311G>C (p.Lys437Asn) n.1790G>C c.1518G>C (p.Lys506Asn) c.1425G>C (p.Lys475Asn) c.747G>C (p.Lys249Asn) c.1542G>C (p.Lys514Asn) c.1296G>C (p.Lys432Asn) |