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.36222793_36222801delinsTGTAACAAA | CA1846333262 | CLTA,GNE | c.1702_1710delinsTTTGTTACA (p.Phe568=) c.1432_1440delinsTTTGTTACA (p.Phe478=) c.1609_1617delinsTTTGTTACA (p.Phe537=) c.1411+572_1411+580delinsTTTGTTACA (n.1411+572_1411+580delinsTTTGTTACA) c.485+18614_485+18622delinsTGTAACAAA (n.485+18614_485+18622delinsTGTAACAAA) c.1279_1287delinsTTTGTTACA (p.Phe427=) c.1594_1602delinsTTTGTTACA (p.Phe532=) c.1549_1557delinsTTTGTTACA (p.Phe517=) c.1456_1464delinsTTTGTTACA (p.Phe486=) | |
| 9 | g.36222796_36222803del | CA16041310 | CLTA,GNE | c.1702_1709del (p.Phe568ThrfsTer16) c.1432_1439del (p.Phe478ThrfsTer16) c.1609_1616del (p.Phe537ThrfsTer16) c.1411+572_1411+579del (n.1411+572_1411+579del) c.485+18617_485+18624del (n.485+18617_485+18624del) c.1279_1286del (p.Phe427ThrfsTer16) c.1594_1601del (p.Phe532ThrfsTer16) c.1549_1556del (p.Phe517ThrfsTer16) c.1456_1463del (p.Phe486ThrfsTer16) | ClinVar dbSNP gnomAD v4 |
| 9 | g.36222796A>C | CA464495158 | CLTA,GNE | c.1707T>G (p.Val569=) c.1437T>G (p.Val479=) c.1614T>G (p.Val538=) c.1411+577T>G (n.1411+577T>G) c.485+18617A>C (n.485+18617A>C) c.1284T>G (p.Val428=) c.1599T>G (p.Val533=) c.1554T>G (p.Val518=) c.1461T>G (p.Val487=) | |
| 9 | g.36222796A>G | CA464495157 | CLTA,GNE | c.1707T>C (p.Val569=) c.1437T>C (p.Val479=) c.1614T>C (p.Val538=) c.1411+577T>C (n.1411+577T>C) c.485+18617A>G (n.485+18617A>G) c.1284T>C (p.Val428=) c.1599T>C (p.Val533=) c.1554T>C (p.Val518=) c.1461T>C (p.Val487=) | gnomAD v4 |
| 9 | g.36222796A>T | CA464495156 | CLTA,GNE | c.1707T>A (p.Val569=) c.1437T>A (p.Val479=) c.1614T>A (p.Val538=) c.1411+577T>A (n.1411+577T>A) c.485+18617A>T (n.485+18617A>T) c.1284T>A (p.Val428=) c.1599T>A (p.Val533=) c.1554T>A (p.Val518=) c.1461T>A (p.Val487=) | ClinVar dbSNP |
| 9 | g.36222797A= | CA1846333280 | CLTA,GNE | c.1706T= (p.Val569=) c.1436T= (p.Val479=) c.1613T= (p.Val538=) c.1411+576T= (n.1411+576T=) c.485+18618A= (n.485+18618A=) c.1283T= (p.Val428=) c.1598T= (p.Val533=) c.1553T= (p.Val518=) c.1460T= (p.Val487=) | |
| 9 | g.36222797A>C | CA373426086 | CLTA,GNE | c.1706T>G (p.Val569Gly) c.1436T>G (p.Val479Gly) c.1613T>G (p.Val538Gly) c.1411+576T>G (n.1411+576T>G) c.485+18618A>C (n.485+18618A>C) c.1283T>G (p.Val428Gly) c.1598T>G (p.Val533Gly) c.1553T>G (p.Val518Gly) c.1460T>G (p.Val487Gly) | |
| 9 | g.36222797A>G | CA373426089 | CLTA,GNE | c.1706T>C (p.Val569Ala) c.1436T>C (p.Val479Ala) c.1613T>C (p.Val538Ala) c.1411+576T>C (n.1411+576T>C) c.485+18618A>G (n.485+18618A>G) c.1283T>C (p.Val428Ala) c.1598T>C (p.Val533Ala) c.1553T>C (p.Val518Ala) c.1460T>C (p.Val487Ala) | ClinVar dbSNP |
| 9 | g.36222797A>T | CA373426091 | CLTA,GNE | c.1706T>A (p.Val569Asp) c.1436T>A (p.Val479Asp) c.1613T>A (p.Val538Asp) c.1411+576T>A (n.1411+576T>A) c.485+18618A>T (n.485+18618A>T) c.1283T>A (p.Val428Asp) c.1598T>A (p.Val533Asp) c.1553T>A (p.Val518Asp) c.1460T>A (p.Val487Asp) | |
| 9 | g.36222798C>A | CA373426093 | CLTA,GNE | c.1705G>T (p.Val569Phe) c.1435G>T (p.Val479Phe) c.1612G>T (p.Val538Phe) c.1411+575G>T (n.1411+575G>T) c.485+18619C>A (n.485+18619C>A) c.1282G>T (p.Val428Phe) c.1597G>T (p.Val533Phe) c.1552G>T (p.Val518Phe) c.1459G>T (p.Val487Phe) | |
| 9 | g.36222798C>G | CA373426094 | CLTA,GNE | c.1705G>C (p.Val569Leu) c.1435G>C (p.Val479Leu) c.1612G>C (p.Val538Leu) c.1411+575G>C (n.1411+575G>C) c.485+18619C>G (n.485+18619C>G) c.1282G>C (p.Val428Leu) c.1597G>C (p.Val533Leu) c.1552G>C (p.Val518Leu) c.1459G>C (p.Val487Leu) | |
| 9 | g.36222798C>T | CA373426095 | CLTA,GNE | c.1705G>A (p.Val569Ile) c.1435G>A (p.Val479Ile) c.1612G>A (p.Val538Ile) c.1411+575G>A (n.1411+575G>A) c.485+18619C>T (n.485+18619C>T) c.1282G>A (p.Val428Ile) c.1597G>A (p.Val533Ile) c.1552G>A (p.Val518Ile) c.1459G>A (p.Val487Ile) | |
| 9 | g.36222799A= | CA1846333287 | CLTA,GNE | c.1704T= (p.Phe568=) c.1434T= (p.Phe478=) c.1611T= (p.Phe537=) c.1411+574T= (n.1411+574T=) c.485+18620A= (n.485+18620A=) c.1281T= (p.Phe427=) c.1596T= (p.Phe532=) c.1551T= (p.Phe517=) c.1458T= (p.Phe486=) | |
| 9 | g.36222799A>C | CA373426097 | CLTA,GNE | c.1704T>G (p.Phe568Leu) c.1434T>G (p.Phe478Leu) c.1611T>G (p.Phe537Leu) c.1411+574T>G (n.1411+574T>G) c.485+18620A>C (n.485+18620A>C) c.1281T>G (p.Phe427Leu) c.1596T>G (p.Phe532Leu) c.1551T>G (p.Phe517Leu) c.1458T>G (p.Phe486Leu) | dbSNP |
| 9 | g.36222799A>G | CA464495159 | CLTA,GNE | c.1704T>C (p.Phe568=) c.1434T>C (p.Phe478=) c.1611T>C (p.Phe537=) c.1411+574T>C (n.1411+574T>C) c.485+18620A>G (n.485+18620A>G) c.1281T>C (p.Phe427=) c.1596T>C (p.Phe532=) c.1551T>C (p.Phe517=) c.1458T>C (p.Phe486=) | dbSNP gnomAD v2 |
| 9 | g.36222799A>T | CA373426099 | CLTA,GNE | c.1704T>A (p.Phe568Leu) c.1434T>A (p.Phe478Leu) c.1611T>A (p.Phe537Leu) c.1411+574T>A (n.1411+574T>A) c.485+18620A>T (n.485+18620A>T) c.1281T>A (p.Phe427Leu) c.1596T>A (p.Phe532Leu) c.1551T>A (p.Phe517Leu) c.1458T>A (p.Phe486Leu) | |
| 9 | g.36222800A>C | CA373426101 | CLTA,GNE | c.1703T>G (p.Phe568Cys) c.1433T>G (p.Phe478Cys) c.1610T>G (p.Phe537Cys) c.1411+573T>G (n.1411+573T>G) c.485+18621A>C (n.485+18621A>C) c.1280T>G (p.Phe427Cys) c.1595T>G (p.Phe532Cys) c.1550T>G (p.Phe517Cys) c.1457T>G (p.Phe486Cys) | |
| 9 | g.36222800A>G | CA373426102 | CLTA,GNE | c.1703T>C (p.Phe568Ser) c.1433T>C (p.Phe478Ser) c.1610T>C (p.Phe537Ser) c.1411+573T>C (n.1411+573T>C) c.485+18621A>G (n.485+18621A>G) c.1280T>C (p.Phe427Ser) c.1595T>C (p.Phe532Ser) c.1550T>C (p.Phe517Ser) c.1457T>C (p.Phe486Ser) | |
| 9 | g.36222800A>T | CA373426103 | CLTA,GNE | c.1703T>A (p.Phe568Tyr) c.1433T>A (p.Phe478Tyr) c.1610T>A (p.Phe537Tyr) c.1411+573T>A (n.1411+573T>A) c.485+18621A>T (n.485+18621A>T) c.1280T>A (p.Phe427Tyr) c.1595T>A (p.Phe532Tyr) c.1550T>A (p.Phe517Tyr) c.1457T>A (p.Phe486Tyr) | |
| 9 | g.36222801A= | CA1846333291 | CLTA,GNE | c.1702T= (p.Phe568=) c.1432T= (p.Phe478=) c.1609T= (p.Phe537=) c.1411+572T= (n.1411+572T=) c.485+18622A= (n.485+18622A=) c.1279T= (p.Phe427=) c.1594T= (p.Phe532=) c.1549T= (p.Phe517=) c.1456T= (p.Phe486=) | |
| 9 | g.36222801A>C | CA373426108 | CLTA,GNE | c.1702T>G (p.Phe568Val) c.1432T>G (p.Phe478Val) c.1609T>G (p.Phe537Val) c.1411+572T>G (n.1411+572T>G) c.485+18622A>C (n.485+18622A>C) c.1279T>G (p.Phe427Val) c.1594T>G (p.Phe532Val) c.1549T>G (p.Phe517Val) c.1456T>G (p.Phe486Val) | |
| 9 | g.36222801A>G | CA373426107 | CLTA,GNE | c.1702T>C (p.Phe568Leu) c.1432T>C (p.Phe478Leu) c.1609T>C (p.Phe537Leu) c.1411+572T>C (n.1411+572T>C) c.485+18622A>G (n.485+18622A>G) c.1279T>C (p.Phe427Leu) c.1594T>C (p.Phe532Leu) c.1549T>C (p.Phe517Leu) c.1456T>C (p.Phe486Leu) | ClinVar dbSNP |
| 9 | g.36222801A>T | CA373426105 | CLTA,GNE | c.1702T>A (p.Phe568Ile) c.1432T>A (p.Phe478Ile) c.1609T>A (p.Phe537Ile) c.1411+572T>A (n.1411+572T>A) c.485+18622A>T (n.485+18622A>T) c.1279T>A (p.Phe427Ile) c.1594T>A (p.Phe532Ile) c.1549T>A (p.Phe517Ile) c.1456T>A (p.Phe486Ile) | gnomAD v4 |
| 9 | g.36222802G>A | CA464495160 | CLTA,GNE | c.1701C>T (p.Asn567=) c.1431C>T (p.Asn477=) c.1608C>T (p.Asn536=) c.1411+571C>T (n.1411+571C>T) c.485+18623G>A (n.485+18623G>A) c.1278C>T (p.Asn426=) c.1593C>T (p.Asn531=) c.1548C>T (p.Asn516=) c.1455C>T (p.Asn485=) | |
| 9 | g.36222802G>C | CA373426110 | CLTA,GNE | c.1701C>G (p.Asn567Lys) c.1431C>G (p.Asn477Lys) c.1608C>G (p.Asn536Lys) c.1411+571C>G (n.1411+571C>G) c.485+18623G>C (n.485+18623G>C) c.1278C>G (p.Asn426Lys) c.1593C>G (p.Asn531Lys) c.1548C>G (p.Asn516Lys) c.1455C>G (p.Asn485Lys) | |
| 9 | g.36222802G>T | CA373426111 | CLTA,GNE | c.1701C>A (p.Asn567Lys) c.1431C>A (p.Asn477Lys) c.1608C>A (p.Asn536Lys) c.1411+571C>A (n.1411+571C>A) c.485+18623G>T (n.485+18623G>T) c.1278C>A (p.Asn426Lys) c.1593C>A (p.Asn531Lys) c.1548C>A (p.Asn516Lys) c.1455C>A (p.Asn485Lys) | gnomAD v4 |
| 9 | g.36222803T>A | CA373426112 | CLTA,GNE | c.1700A>T (p.Asn567Ile) c.1430A>T (p.Asn477Ile) c.1607A>T (p.Asn536Ile) c.1411+570A>T (n.1411+570A>T) c.485+18624T>A (n.485+18624T>A) c.1277A>T (p.Asn426Ile) c.1592A>T (p.Asn531Ile) c.1547A>T (p.Asn516Ile) c.1454A>T (p.Asn485Ile) | |
| 9 | g.36222803T>C | CA373426114 | CLTA,GNE | c.1700A>G (p.Asn567Ser) c.1430A>G (p.Asn477Ser) c.1607A>G (p.Asn536Ser) c.1411+570A>G (n.1411+570A>G) c.485+18624T>C (n.485+18624T>C) c.1277A>G (p.Asn426Ser) c.1592A>G (p.Asn531Ser) c.1547A>G (p.Asn516Ser) c.1454A>G (p.Asn485Ser) | |
| 9 | g.36222803T>G | CA373426115 | CLTA,GNE | c.1700A>C (p.Asn567Thr) c.1430A>C (p.Asn477Thr) c.1607A>C (p.Asn536Thr) c.1411+570A>C (n.1411+570A>C) c.485+18624T>G (n.485+18624T>G) c.1277A>C (p.Asn426Thr) c.1592A>C (p.Asn531Thr) c.1547A>C (p.Asn516Thr) c.1454A>C (p.Asn485Thr) | |
| 9 | g.36222804T>A | CA373426116 | CLTA,GNE | c.1699A>T (p.Asn567Tyr) c.1429A>T (p.Asn477Tyr) c.1606A>T (p.Asn536Tyr) c.1411+569A>T (n.1411+569A>T) c.485+18625T>A (n.485+18625T>A) c.1276A>T (p.Asn426Tyr) c.1591A>T (p.Asn531Tyr) c.1546A>T (p.Asn516Tyr) c.1453A>T (p.Asn485Tyr) | |
| 9 | g.36222804T>C | CA373426118 | CLTA,GNE | c.1699A>G (p.Asn567Asp) c.1429A>G (p.Asn477Asp) c.1606A>G (p.Asn536Asp) c.1411+569A>G (n.1411+569A>G) c.485+18625T>C (n.485+18625T>C) c.1276A>G (p.Asn426Asp) c.1591A>G (p.Asn531Asp) c.1546A>G (p.Asn516Asp) c.1453A>G (p.Asn485Asp) | |
| 9 | g.36222804T>G | CA192843479 | CLTA,GNE | c.1699A>C (p.Asn567His) c.1429A>C (p.Asn477His) c.1606A>C (p.Asn536His) c.1411+569A>C (n.1411+569A>C) c.485+18625T>G (n.485+18625T>G) c.1276A>C (p.Asn426His) c.1591A>C (p.Asn531His) c.1546A>C (p.Asn516His) c.1453A>C (p.Asn485His) | dbSNP |
| 9 | g.36222804T= | CA1846333297 | CLTA,GNE | c.1699A= (p.Asn567=) c.1429A= (p.Asn477=) c.1606A= (p.Asn536=) c.1411+569A= (n.1411+569A=) c.485+18625T= (n.485+18625T=) c.1276A= (p.Asn426=) c.1591A= (p.Asn531=) c.1546A= (p.Asn516=) c.1453A= (p.Asn485=) | |
| 9 | g.36222805T>A | CA373426121 | CLTA,GNE | c.1698A>T (p.Glu566Asp) c.1428A>T (p.Glu476Asp) c.1605A>T (p.Glu535Asp) c.1411+568A>T (n.1411+568A>T) c.485+18626T>A (n.485+18626T>A) c.1275A>T (p.Glu425Asp) c.1590A>T (p.Glu530Asp) c.1545A>T (p.Glu515Asp) c.1452A>T (p.Glu484Asp) | |
| 9 | g.36222805T>C | CA464495161 | CLTA,GNE | c.1698A>G (p.Glu566=) c.1428A>G (p.Glu476=) c.1605A>G (p.Glu535=) c.1411+568A>G (n.1411+568A>G) c.485+18626T>C (n.485+18626T>C) c.1275A>G (p.Glu425=) c.1590A>G (p.Glu530=) c.1545A>G (p.Glu515=) c.1452A>G (p.Glu484=) | |
| 9 | g.36222805T>G | CA373426122 | CLTA,GNE | c.1698A>C (p.Glu566Asp) c.1428A>C (p.Glu476Asp) c.1605A>C (p.Glu535Asp) c.1411+568A>C (n.1411+568A>C) c.485+18626T>G (n.485+18626T>G) c.1275A>C (p.Glu425Asp) c.1590A>C (p.Glu530Asp) c.1545A>C (p.Glu515Asp) c.1452A>C (p.Glu484Asp) | |
| 9 | g.36222806T>A | CA373426125 | CLTA,GNE | c.1697A>T (p.Glu566Val) c.1427A>T (p.Glu476Val) c.1604A>T (p.Glu535Val) c.1411+567A>T (n.1411+567A>T) c.485+18627T>A (n.485+18627T>A) c.1274A>T (p.Glu425Val) c.1589A>T (p.Glu530Val) c.1544A>T (p.Glu515Val) c.1451A>T (p.Glu484Val) | |
| 9 | g.36222806T>C | CA373426126 | CLTA,GNE | c.1697A>G (p.Glu566Gly) c.1427A>G (p.Glu476Gly) c.1604A>G (p.Glu535Gly) c.1411+567A>G (n.1411+567A>G) c.485+18627T>C (n.485+18627T>C) c.1274A>G (p.Glu425Gly) c.1589A>G (p.Glu530Gly) c.1544A>G (p.Glu515Gly) c.1451A>G (p.Glu484Gly) | |
| 9 | g.36222806T>G | CA373426127 | CLTA,GNE | c.1697A>C (p.Glu566Ala) c.1427A>C (p.Glu476Ala) c.1604A>C (p.Glu535Ala) c.1411+567A>C (n.1411+567A>C) c.485+18627T>G (n.485+18627T>G) c.1274A>C (p.Glu425Ala) c.1589A>C (p.Glu530Ala) c.1544A>C (p.Glu515Ala) c.1451A>C (p.Glu484Ala) | |
| 9 | g.36222807C>A | CA373426130 | CLTA,GNE | c.1696G>T (p.Glu566Ter) c.1426G>T (p.Glu476Ter) c.1603G>T (p.Glu535Ter) c.1411+566G>T (n.1411+566G>T) c.485+18628C>A (n.485+18628C>A) c.1273G>T (p.Glu425Ter) c.1588G>T (p.Glu530Ter) c.1543G>T (p.Glu515Ter) c.1450G>T (p.Glu484Ter) | |
| 9 | g.36222807C>G | CA373426132 | CLTA,GNE | c.1696G>C (p.Glu566Gln) c.1426G>C (p.Glu476Gln) c.1603G>C (p.Glu535Gln) c.1411+566G>C (n.1411+566G>C) c.485+18628C>G (n.485+18628C>G) c.1273G>C (p.Glu425Gln) c.1588G>C (p.Glu530Gln) c.1543G>C (p.Glu515Gln) c.1450G>C (p.Glu484Gln) | |
| 9 | g.36222807C>T | CA373426128 | CLTA,GNE | c.1696G>A (p.Glu566Lys) c.1426G>A (p.Glu476Lys) c.1603G>A (p.Glu535Lys) c.1411+566G>A (n.1411+566G>A) c.485+18628C>T (n.485+18628C>T) c.1273G>A (p.Glu425Lys) c.1588G>A (p.Glu530Lys) c.1543G>A (p.Glu515Lys) c.1450G>A (p.Glu484Lys) | |
| 9 | g.36222808C>A | CA464495162 | CLTA,GNE | c.1695G>T (p.Leu565=) c.1425G>T (p.Leu475=) c.1602G>T (p.Leu534=) c.1411+565G>T (n.1411+565G>T) c.485+18629C>A (n.485+18629C>A) c.1272G>T (p.Leu424=) c.1587G>T (p.Leu529=) c.1542G>T (p.Leu514=) c.1449G>T (p.Leu483=) | |
| 9 | g.36222808C>G | CA464495163 | CLTA,GNE | c.1695G>C (p.Leu565=) c.1425G>C (p.Leu475=) c.1602G>C (p.Leu534=) c.1411+565G>C (n.1411+565G>C) c.485+18629C>G (n.485+18629C>G) c.1272G>C (p.Leu424=) c.1587G>C (p.Leu529=) c.1542G>C (p.Leu514=) c.1449G>C (p.Leu483=) | |
| 9 | g.36222808C>T | CA464495164 | CLTA,GNE | c.1695G>A (p.Leu565=) c.1425G>A (p.Leu475=) c.1602G>A (p.Leu534=) c.1411+565G>A (n.1411+565G>A) c.485+18629C>T (n.485+18629C>T) c.1272G>A (p.Leu424=) c.1587G>A (p.Leu529=) c.1542G>A (p.Leu514=) c.1449G>A (p.Leu483=) | ClinVar dbSNP |
| 9 | g.36222809A>C | CA373426133 | CLTA,GNE | c.1694T>G (p.Leu565Arg) c.1424T>G (p.Leu475Arg) c.1601T>G (p.Leu534Arg) c.1411+564T>G (n.1411+564T>G) c.485+18630A>C (n.485+18630A>C) c.1271T>G (p.Leu424Arg) c.1586T>G (p.Leu529Arg) c.1541T>G (p.Leu514Arg) c.1448T>G (p.Leu483Arg) | |
| 9 | g.36222809A>G | CA373426135 | CLTA,GNE | c.1694T>C (p.Leu565Pro) c.1424T>C (p.Leu475Pro) c.1601T>C (p.Leu534Pro) c.1411+564T>C (n.1411+564T>C) c.485+18630A>G (n.485+18630A>G) c.1271T>C (p.Leu424Pro) c.1586T>C (p.Leu529Pro) c.1541T>C (p.Leu514Pro) c.1448T>C (p.Leu483Pro) | |
| 9 | g.36222809A>T | CA373426136 | CLTA,GNE | c.1694T>A (p.Leu565Gln) c.1424T>A (p.Leu475Gln) c.1601T>A (p.Leu534Gln) c.1411+564T>A (n.1411+564T>A) c.485+18630A>T (n.485+18630A>T) c.1271T>A (p.Leu424Gln) c.1586T>A (p.Leu529Gln) c.1541T>A (p.Leu514Gln) c.1448T>A (p.Leu483Gln) | |
| 9 | g.36222810G>A | CA464495165 | CLTA,GNE | c.1693C>T (p.Leu565=) c.1423C>T (p.Leu475=) c.1600C>T (p.Leu534=) c.1411+563C>T (n.1411+563C>T) c.485+18631G>A (n.485+18631G>A) c.1270C>T (p.Leu424=) c.1585C>T (p.Leu529=) c.1540C>T (p.Leu514=) c.1447C>T (p.Leu483=) | ClinVar |
| 9 | g.36222810G>C | CA5056462 | CLTA,GNE | c.1693C>G (p.Leu565Val) c.1423C>G (p.Leu475Val) c.1600C>G (p.Leu534Val) c.1411+563C>G (n.1411+563C>G) c.485+18631G>C (n.485+18631G>C) c.1270C>G (p.Leu424Val) c.1585C>G (p.Leu529Val) c.1540C>G (p.Leu514Val) c.1447C>G (p.Leu483Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |