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 |
|---|---|---|---|---|---|
| 14 | g.87941429A>C | CA390745647 | GALC | c.1800T>G (p.Phe600Leu) c.1731T>G (p.Phe577Leu) c.1722T>G (p.Phe574Leu) c.1632T>G (p.Phe544Leu) c.1167T>G (p.Phe389Leu) c.336T>G c.*1198T>G (n.*1198T>G) | |
| 14 | g.87941429A>G | CA487355372 | GALC | c.1800T>C (p.Phe600=) c.1731T>C (p.Phe577=) c.1722T>C (p.Phe574=) c.1632T>C (p.Phe544=) c.1167T>C (p.Phe389=) c.336T>C c.*1198T>C (n.*1198T>C) | |
| 14 | g.87941429A>T | CA390745648 | GALC | c.1800T>A (p.Phe600Leu) c.1731T>A (p.Phe577Leu) c.1722T>A (p.Phe574Leu) c.1632T>A (p.Phe544Leu) c.1167T>A (p.Phe389Leu) c.336T>A c.*1198T>A (n.*1198T>A) | |
| 14 | g.87941429_87941440del | CA2573150290 | GALC | c.1789_1800del (p.Phe597_Phe600del) c.1720_1731del (p.Phe574_Phe577del) c.1711_1722del (p.Phe571_Phe574del) c.1621_1632del (p.Phe541_Phe544del) c.1156_1167del (p.Phe386_Phe389del) c.325_336del c.*1187_*1198del (n.*1187_*1198del) | ClinVar dbSNP |
| 14 | g.87941430A>C | CA390745649 | GALC | c.1799T>G (p.Phe600Cys) c.1730T>G (p.Phe577Cys) c.1721T>G (p.Phe574Cys) c.1631T>G (p.Phe544Cys) c.1166T>G (p.Phe389Cys) c.335T>G c.*1197T>G (n.*1197T>G) | |
| 14 | g.87941430A>G | CA390745650 | GALC | c.1799T>C (p.Phe600Ser) c.1730T>C (p.Phe577Ser) c.1721T>C (p.Phe574Ser) c.1631T>C (p.Phe544Ser) c.1166T>C (p.Phe389Ser) c.335T>C c.*1197T>C (n.*1197T>C) | |
| 14 | g.87941430A>T | CA390745651 | GALC | c.1799T>A (p.Phe600Tyr) c.1730T>A (p.Phe577Tyr) c.1721T>A (p.Phe574Tyr) c.1631T>A (p.Phe544Tyr) c.1166T>A (p.Phe389Tyr) c.335T>A c.*1197T>A (n.*1197T>A) | |
| 14 | g.87941431A>C | CA390745652 | GALC | c.1798T>G (p.Phe600Val) c.1729T>G (p.Phe577Val) c.1720T>G (p.Phe574Val) c.1630T>G (p.Phe544Val) c.1165T>G (p.Phe389Val) c.334T>G c.*1196T>G (n.*1196T>G) | |
| 14 | g.87941431A>G | CA390745653 | GALC | c.1798T>C (p.Phe600Leu) c.1729T>C (p.Phe577Leu) c.1720T>C (p.Phe574Leu) c.1630T>C (p.Phe544Leu) c.1165T>C (p.Phe389Leu) c.334T>C c.*1196T>C (n.*1196T>C) | |
| 14 | g.87941431A>T | CA390745654 | GALC | c.1798T>A (p.Phe600Ile) c.1729T>A (p.Phe577Ile) c.1720T>A (p.Phe574Ile) c.1630T>A (p.Phe544Ile) c.1165T>A (p.Phe389Ile) c.334T>A c.*1196T>A (n.*1196T>A) | |
| 14 | g.87941432A>C | CA390745655 | GALC | c.1797T>G (p.Ile599Met) c.1728T>G (p.Ile576Met) c.1719T>G (p.Ile573Met) c.1629T>G (p.Ile543Met) c.1164T>G (p.Ile388Met) c.333T>G c.*1195T>G (n.*1195T>G) | |
| 14 | g.87941432A>G | CA487355373 | GALC | c.1797T>C (p.Ile599=) c.1728T>C (p.Ile576=) c.1719T>C (p.Ile573=) c.1629T>C (p.Ile543=) c.1164T>C (p.Ile388=) c.333T>C c.*1195T>C (n.*1195T>C) | |
| 14 | g.87941432A>T | CA487355374 | GALC | c.1797T>A (p.Ile599=) c.1728T>A (p.Ile576=) c.1719T>A (p.Ile573=) c.1629T>A (p.Ile543=) c.1164T>A (p.Ile388=) c.333T>A c.*1195T>A (n.*1195T>A) | |
| 14 | g.87941433A= | CA2153353359 | GALC | c.1796T= (p.Ile599=) c.1727T= (p.Ile576=) c.1718T= (p.Ile573=) c.1628T= (p.Ile543=) c.1163T= (p.Ile388=) c.332T= c.*1194T= (n.*1194T=) | |
| 14 | g.87941433A>C | CA259865 | GALC | c.1796T>G (p.Ile599Ser) c.1727T>G (p.Ile576Ser) c.1718T>G (p.Ile573Ser) c.1628T>G (p.Ile543Ser) c.1163T>G (p.Ile388Ser) c.332T>G c.*1194T>G (n.*1194T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87941433A>G | CA390745657 | GALC | c.1796T>C (p.Ile599Thr) c.1727T>C (p.Ile576Thr) c.1718T>C (p.Ile573Thr) c.1628T>C (p.Ile543Thr) c.1163T>C (p.Ile388Thr) c.332T>C c.*1194T>C (n.*1194T>C) | |
| 14 | g.87941433A>T | CA390745656 | GALC | c.1796T>A (p.Ile599Asn) c.1727T>A (p.Ile576Asn) c.1718T>A (p.Ile573Asn) c.1628T>A (p.Ile543Asn) c.1163T>A (p.Ile388Asn) c.332T>A c.*1194T>A (n.*1194T>A) | |
| 14 | g.87941434T>A | CA390745658 | GALC | c.1795A>T (p.Ile599Phe) c.1726A>T (p.Ile576Phe) c.1717A>T (p.Ile573Phe) c.1627A>T (p.Ile543Phe) c.1162A>T (p.Ile388Phe) c.331A>T c.*1193A>T (n.*1193A>T) | |
| 14 | g.87941434T>C | CA390745660 | GALC | c.1795A>G (p.Ile599Val) c.1726A>G (p.Ile576Val) c.1717A>G (p.Ile573Val) c.1627A>G (p.Ile543Val) c.1162A>G (p.Ile388Val) c.331A>G c.*1193A>G (n.*1193A>G) | gnomAD v4 |
| 14 | g.87941434T>G | CA390745659 | GALC | c.1795A>C (p.Ile599Leu) c.1726A>C (p.Ile576Leu) c.1717A>C (p.Ile573Leu) c.1627A>C (p.Ile543Leu) c.1162A>C (p.Ile388Leu) c.331A>C c.*1193A>C (n.*1193A>C) | |
| 14 | g.87941435C>A | CA390745661 | GALC | c.1794G>T (p.Trp598Cys) c.1725G>T (p.Trp575Cys) c.1716G>T (p.Trp572Cys) c.1626G>T (p.Trp542Cys) c.1161G>T (p.Trp387Cys) c.330G>T c.*1192G>T (n.*1192G>T) | |
| 14 | g.87941435C>G | CA390745662 | GALC | c.1794G>C (p.Trp598Cys) c.1725G>C (p.Trp575Cys) c.1716G>C (p.Trp572Cys) c.1626G>C (p.Trp542Cys) c.1161G>C (p.Trp387Cys) c.330G>C c.*1192G>C (n.*1192G>C) | |
| 14 | g.87941435C>T | CA390745663 | GALC | c.1794G>A (p.Trp598Ter) c.1725G>A (p.Trp575Ter) c.1716G>A (p.Trp572Ter) c.1626G>A (p.Trp542Ter) c.1161G>A (p.Trp387Ter) c.330G>A c.*1192G>A (n.*1192G>A) | |
| 14 | g.87941436C>A | CA390745664 | GALC | c.1793G>T (p.Trp598Leu) c.1724G>T (p.Trp575Leu) c.1715G>T (p.Trp572Leu) c.1625G>T (p.Trp542Leu) c.1160G>T (p.Trp387Leu) c.329G>T c.*1191G>T (n.*1191G>T) | gnomAD v4 |
| 14 | g.87941436C= | CA2153353360 | GALC | c.1793G= (p.Trp598=) c.1724G= (p.Trp575=) c.1715G= (p.Trp572=) c.1625G= (p.Trp542=) c.1160G= (p.Trp387=) c.329G= c.*1191G= (n.*1191G=) | |
| 14 | g.87941436C>G | CA390745665 | GALC | c.1793G>C (p.Trp598Ser) c.1724G>C (p.Trp575Ser) c.1715G>C (p.Trp572Ser) c.1625G>C (p.Trp542Ser) c.1160G>C (p.Trp387Ser) c.329G>C c.*1191G>C (n.*1191G>C) | |
| 14 | g.87941436C>T | CA390745666 | GALC | c.1793G>A (p.Trp598Ter) c.1724G>A (p.Trp575Ter) c.1715G>A (p.Trp572Ter) c.1625G>A (p.Trp542Ter) c.1160G>A (p.Trp387Ter) c.329G>A c.*1191G>A (n.*1191G>A) | ClinVar dbSNP |
| 14 | g.87941437del | CA2625978785 | GALC | c.1792del (p.Trp598GlyfsTer14) c.1723del (p.Trp575GlyfsTer14) c.1714del (p.Trp572GlyfsTer14) c.1624del (p.Trp542GlyfsTer14) c.1159del (p.Trp387GlyfsTer14) c.328del c.*1190del (n.*1190del) | gnomAD v4 |
| 14 | g.87941437A>C | CA390745669 | GALC | c.1792T>G (p.Trp598Gly) c.1723T>G (p.Trp575Gly) c.1714T>G (p.Trp572Gly) c.1624T>G (p.Trp542Gly) c.1159T>G (p.Trp387Gly) c.328T>G c.*1190T>G (n.*1190T>G) | |
| 14 | g.87941437A>G | CA390745667 | GALC | c.1792T>C (p.Trp598Arg) c.1723T>C (p.Trp575Arg) c.1714T>C (p.Trp572Arg) c.1624T>C (p.Trp542Arg) c.1159T>C (p.Trp387Arg) c.328T>C c.*1190T>C (n.*1190T>C) | |
| 14 | g.87941437A>T | CA390745668 | GALC | c.1792T>A (p.Trp598Arg) c.1723T>A (p.Trp575Arg) c.1714T>A (p.Trp572Arg) c.1624T>A (p.Trp542Arg) c.1159T>A (p.Trp387Arg) c.328T>A c.*1190T>A (n.*1190T>A) | |
| 14 | g.87941438G>A | CA264679938 | GALC | c.1791C>T (p.Phe597=) c.1722C>T (p.Phe574=) c.1713C>T (p.Phe571=) c.1623C>T (p.Phe541=) c.1158C>T (p.Phe386=) c.327C>T c.*1189C>T (n.*1189C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87941438G>C | CA390745670 | GALC | c.1791C>G (p.Phe597Leu) c.1722C>G (p.Phe574Leu) c.1713C>G (p.Phe571Leu) c.1623C>G (p.Phe541Leu) c.1158C>G (p.Phe386Leu) c.327C>G c.*1189C>G (n.*1189C>G) | |
| 14 | g.87941438G= | CA2153353361 | GALC | c.1791C= (p.Phe597=) c.1722C= (p.Phe574=) c.1713C= (p.Phe571=) c.1623C= (p.Phe541=) c.1158C= (p.Phe386=) c.327C= c.*1189C= (n.*1189C=) | |
| 14 | g.87941438G>T | CA390745671 | GALC | c.1791C>A (p.Phe597Leu) c.1722C>A (p.Phe574Leu) c.1713C>A (p.Phe571Leu) c.1623C>A (p.Phe541Leu) c.1158C>A (p.Phe386Leu) c.327C>A c.*1189C>A (n.*1189C>A) | |
| 14 | g.87941439A>C | CA390745672 | GALC | c.1790T>G (p.Phe597Cys) c.1721T>G (p.Phe574Cys) c.1712T>G (p.Phe571Cys) c.1622T>G (p.Phe541Cys) c.1157T>G (p.Phe386Cys) c.326T>G c.*1188T>G (n.*1188T>G) | |
| 14 | g.87941439A>G | CA390745673 | GALC | c.1790T>C (p.Phe597Ser) c.1721T>C (p.Phe574Ser) c.1712T>C (p.Phe571Ser) c.1622T>C (p.Phe541Ser) c.1157T>C (p.Phe386Ser) c.326T>C c.*1188T>C (n.*1188T>C) | |
| 14 | g.87941439A>T | CA390745674 | GALC | c.1790T>A (p.Phe597Tyr) c.1721T>A (p.Phe574Tyr) c.1712T>A (p.Phe571Tyr) c.1622T>A (p.Phe541Tyr) c.1157T>A (p.Phe386Tyr) c.326T>A c.*1188T>A (n.*1188T>A) | |
| 14 | g.87941440A>C | CA390745677 | GALC | c.1789T>G (p.Phe597Val) c.1720T>G (p.Phe574Val) c.1711T>G (p.Phe571Val) c.1621T>G (p.Phe541Val) c.1156T>G (p.Phe386Val) c.325T>G c.*1187T>G (n.*1187T>G) | |
| 14 | g.87941440A>G | CA390745675 | GALC | c.1789T>C (p.Phe597Leu) c.1720T>C (p.Phe574Leu) c.1711T>C (p.Phe571Leu) c.1621T>C (p.Phe541Leu) c.1156T>C (p.Phe386Leu) c.325T>C c.*1187T>C (n.*1187T>C) | |
| 14 | g.87941440A>T | CA390745676 | GALC | c.1789T>A (p.Phe597Ile) c.1720T>A (p.Phe574Ile) c.1711T>A (p.Phe571Ile) c.1621T>A (p.Phe541Ile) c.1156T>A (p.Phe386Ile) c.325T>A c.*1187T>A (n.*1187T>A) | |
| 14 | g.87941441G>A | CA7296923 | GALC | c.1788C>T (p.Phe596=) c.1719C>T (p.Phe573=) c.1710C>T (p.Phe570=) c.1620C>T (p.Phe540=) c.1155C>T (p.Phe385=) c.324C>T c.*1186C>T (n.*1186C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87941441G>C | CA390745678 | GALC | c.1788C>G (p.Phe596Leu) c.1719C>G (p.Phe573Leu) c.1710C>G (p.Phe570Leu) c.1620C>G (p.Phe540Leu) c.1155C>G (p.Phe385Leu) c.324C>G c.*1186C>G (n.*1186C>G) | |
| 14 | g.87941441G= | CA2153353362 | GALC | c.1788C= (p.Phe596=) c.1719C= (p.Phe573=) c.1710C= (p.Phe570=) c.1620C= (p.Phe540=) c.1155C= (p.Phe385=) c.324C= c.*1186C= (n.*1186C=) | |
| 14 | g.87941441G>T | CA7296924 | GALC | c.1788C>A (p.Phe596Leu) c.1719C>A (p.Phe573Leu) c.1710C>A (p.Phe570Leu) c.1620C>A (p.Phe540Leu) c.1155C>A (p.Phe385Leu) c.324C>A c.*1186C>A (n.*1186C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87941442A>C | CA390745679 | GALC | c.1787T>G (p.Phe596Cys) c.1718T>G (p.Phe573Cys) c.1709T>G (p.Phe570Cys) c.1619T>G (p.Phe540Cys) c.1154T>G (p.Phe385Cys) c.323T>G c.*1185T>G (n.*1185T>G) | |
| 14 | g.87941442A>G | CA390745680 | GALC | c.1787T>C (p.Phe596Ser) c.1718T>C (p.Phe573Ser) c.1709T>C (p.Phe570Ser) c.1619T>C (p.Phe540Ser) c.1154T>C (p.Phe385Ser) c.323T>C c.*1185T>C (n.*1185T>C) | |
| 14 | g.87941442A>T | CA390745681 | GALC | c.1787T>A (p.Phe596Tyr) c.1718T>A (p.Phe573Tyr) c.1709T>A (p.Phe570Tyr) c.1619T>A (p.Phe540Tyr) c.1154T>A (p.Phe385Tyr) c.323T>A c.*1185T>A (n.*1185T>A) | |
| 14 | g.87941445del | CA2625978786 | GALC | c.1787del (p.Phe596SerfsTer16) c.1718del (p.Phe573SerfsTer16) c.1709del (p.Phe570SerfsTer16) c.1619del (p.Phe540SerfsTer16) c.1154del (p.Phe385SerfsTer16) c.323del c.*1185del (n.*1185del) | gnomAD v4 |
| 14 | g.87941443A>C | CA390745682 | GALC | c.1786T>G (p.Phe596Val) c.1717T>G (p.Phe573Val) c.1708T>G (p.Phe570Val) c.1618T>G (p.Phe540Val) c.1153T>G (p.Phe385Val) c.322T>G c.*1184T>G (n.*1184T>G) |