| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87939964_87939965delinsCA | CA2153352723 | GALC | c.1851_1852delinsTG (p.Tyr617=) c.1782_1783delinsTG (p.Tyr594=) c.1773_1774delinsTG (p.Tyr591=) c.1683_1684delinsTG (p.Tyr561=) c.1218_1219delinsTG (p.Tyr406=) c.387_388delinsTG | |
| 14 | g.87939965del | CA16041691 | GALC | c.1851del (p.Tyr617Ter) c.1782del (p.Tyr594Ter) c.1773del (p.Tyr591Ter) c.1683del (p.Tyr561Ter) c.1218del (p.Tyr406Ter) c.387del | ClinVar dbSNP gnomAD v4 |
| 14 | g.87939965A>C | CA390745524 | GALC | c.1851T>G (p.Tyr617Ter) c.1782T>G (p.Tyr594Ter) c.1773T>G (p.Tyr591Ter) c.1683T>G (p.Tyr561Ter) c.1218T>G (p.Tyr406Ter) c.387T>G | |
| 14 | g.87939965A>G | CA487355320 | GALC | c.1851T>C (p.Tyr617=) c.1782T>C (p.Tyr594=) c.1773T>C (p.Tyr591=) c.1683T>C (p.Tyr561=) c.1218T>C (p.Tyr406=) c.387T>C | |
| 14 | g.87939965A>T | CA390745525 | GALC | c.1851T>A (p.Tyr617Ter) c.1782T>A (p.Tyr594Ter) c.1773T>A (p.Tyr591Ter) c.1683T>A (p.Tyr561Ter) c.1218T>A (p.Tyr406Ter) c.387T>A | |
| 14 | g.87939966T>A | CA390745526 | GALC | c.1850A>T (p.Tyr617Phe) c.1781A>T (p.Tyr594Phe) c.1772A>T (p.Tyr591Phe) c.1682A>T (p.Tyr561Phe) c.1217A>T (p.Tyr406Phe) c.386A>T | |
| 14 | g.87939966T>C | CA390745527 | GALC | c.1850A>G (p.Tyr617Cys) c.1781A>G (p.Tyr594Cys) c.1772A>G (p.Tyr591Cys) c.1682A>G (p.Tyr561Cys) c.1217A>G (p.Tyr406Cys) c.386A>G | gnomAD v3 gnomAD v4 |
| 14 | g.87939966T>G | CA390745528 | GALC | c.1850A>C (p.Tyr617Ser) c.1781A>C (p.Tyr594Ser) c.1772A>C (p.Tyr591Ser) c.1682A>C (p.Tyr561Ser) c.1217A>C (p.Tyr406Ser) c.386A>C | gnomAD v4 |
| 14 | g.87939967A>C | CA390745529 | GALC | c.1849T>G (p.Tyr617Asp) c.1780T>G (p.Tyr594Asp) c.1771T>G (p.Tyr591Asp) c.1681T>G (p.Tyr561Asp) c.1216T>G (p.Tyr406Asp) c.385T>G | |
| 14 | g.87939967A>G | CA390745531 | GALC | c.1849T>C (p.Tyr617His) c.1780T>C (p.Tyr594His) c.1771T>C (p.Tyr591His) c.1681T>C (p.Tyr561His) c.1216T>C (p.Tyr406His) c.385T>C | |
| 14 | g.87939967A>T | CA390745530 | GALC | c.1849T>A (p.Tyr617Asn) c.1780T>A (p.Tyr594Asn) c.1771T>A (p.Tyr591Asn) c.1681T>A (p.Tyr561Asn) c.1216T>A (p.Tyr406Asn) c.385T>A | |
| 14 | g.87939968T>A | CA487355321 | GALC | c.1848A>T (p.Ile616=) c.1779A>T (p.Ile593=) c.1770A>T (p.Ile590=) c.1680A>T (p.Ile560=) c.1215A>T (p.Ile405=) c.384A>T | |
| 14 | g.87939968T>C | CA390745532 | GALC | c.1848A>G (p.Ile616Met) c.1779A>G (p.Ile593Met) c.1770A>G (p.Ile590Met) c.1680A>G (p.Ile560Met) c.1215A>G (p.Ile405Met) c.384A>G | |
| 14 | g.87939968T>G | CA487355322 | GALC | c.1848A>C (p.Ile616=) c.1779A>C (p.Ile593=) c.1770A>C (p.Ile590=) c.1680A>C (p.Ile560=) c.1215A>C (p.Ile405=) c.384A>C | |
| 14 | g.87939969A>C | CA390745533 | GALC | c.1847T>G (p.Ile616Arg) c.1778T>G (p.Ile593Arg) c.1769T>G (p.Ile590Arg) c.1679T>G (p.Ile560Arg) c.1214T>G (p.Ile405Arg) c.383T>G | gnomAD v4 |
| 14 | g.87939969A>G | CA390745534 | GALC | c.1847T>C (p.Ile616Thr) c.1778T>C (p.Ile593Thr) c.1769T>C (p.Ile590Thr) c.1679T>C (p.Ile560Thr) c.1214T>C (p.Ile405Thr) c.383T>C | |
| 14 | g.87939969A>T | CA390745535 | GALC | c.1847T>A (p.Ile616Lys) c.1778T>A (p.Ile593Lys) c.1769T>A (p.Ile590Lys) c.1679T>A (p.Ile560Lys) c.1214T>A (p.Ile405Lys) c.383T>A | |
| 14 | g.87939970T>A | CA390745536 | GALC | c.1846A>T (p.Ile616Leu) c.1777A>T (p.Ile593Leu) c.1768A>T (p.Ile590Leu) c.1678A>T (p.Ile560Leu) c.1213A>T (p.Ile405Leu) c.382A>T | gnomAD v4 |
| 14 | g.87939970T>C | CA390745537 | GALC | c.1846A>G (p.Ile616Val) c.1777A>G (p.Ile593Val) c.1768A>G (p.Ile590Val) c.1678A>G (p.Ile560Val) c.1213A>G (p.Ile405Val) c.382A>G | |
| 14 | g.87939970T>G | CA390745538 | GALC | c.1846A>C (p.Ile616Leu) c.1777A>C (p.Ile593Leu) c.1768A>C (p.Ile590Leu) c.1678A>C (p.Ile560Leu) c.1213A>C (p.Ile405Leu) c.382A>C | |
| 14 | g.87939971A>C | CA390745539 | GALC | c.1845T>G (p.Ile615Met) c.1776T>G (p.Ile592Met) c.1767T>G (p.Ile589Met) c.1677T>G (p.Ile559Met) c.1212T>G (p.Ile404Met) c.381T>G | |
| 14 | g.87939971A>G | CA487355323 | GALC | c.1845T>C (p.Ile615=) c.1776T>C (p.Ile592=) c.1767T>C (p.Ile589=) c.1677T>C (p.Ile559=) c.1212T>C (p.Ile404=) c.381T>C | |
| 14 | g.87939971A>T | CA487355324 | GALC | c.1845T>A (p.Ile615=) c.1776T>A (p.Ile592=) c.1767T>A (p.Ile589=) c.1677T>A (p.Ile559=) c.1212T>A (p.Ile404=) c.381T>A | ClinVar dbSNP |
| 14 | g.87939972A>C | CA390745540 | GALC | c.1844T>G (p.Ile615Ser) c.1775T>G (p.Ile592Ser) c.1766T>G (p.Ile589Ser) c.1676T>G (p.Ile559Ser) c.1211T>G (p.Ile404Ser) c.380T>G | |
| 14 | g.87939972A>G | CA390745541 | GALC | c.1844T>C (p.Ile615Thr) c.1775T>C (p.Ile592Thr) c.1766T>C (p.Ile589Thr) c.1676T>C (p.Ile559Thr) c.1211T>C (p.Ile404Thr) c.380T>C | |
| 14 | g.87939972A>T | CA390745542 | GALC | c.1844T>A (p.Ile615Asn) c.1775T>A (p.Ile592Asn) c.1766T>A (p.Ile589Asn) c.1676T>A (p.Ile559Asn) c.1211T>A (p.Ile404Asn) c.380T>A | |
| 14 | g.87939973T>A | CA390745545 | GALC | c.1843A>T (p.Ile615Phe) c.1774A>T (p.Ile592Phe) c.1765A>T (p.Ile589Phe) c.1675A>T (p.Ile559Phe) c.1210A>T (p.Ile404Phe) c.379A>T | |
| 14 | g.87939973T>C | CA390745544 | GALC | c.1843A>G (p.Ile615Val) c.1774A>G (p.Ile592Val) c.1765A>G (p.Ile589Val) c.1675A>G (p.Ile559Val) c.1210A>G (p.Ile404Val) c.379A>G | |
| 14 | g.87939973T>G | CA390745543 | GALC | c.1843A>C (p.Ile615Leu) c.1774A>C (p.Ile592Leu) c.1765A>C (p.Ile589Leu) c.1675A>C (p.Ile559Leu) c.1210A>C (p.Ile404Leu) c.379A>C | |
| 14 | g.87939974C>A | CA390745546 | GALC | c.1842G>T (p.Trp614Cys) c.1773G>T (p.Trp591Cys) c.1764G>T (p.Trp588Cys) c.1674G>T (p.Trp558Cys) c.1209G>T (p.Trp403Cys) c.378G>T | dbSNP gnomAD v4 |
| 14 | g.87939974C= | CA2153352724 | GALC | c.1842G= (p.Trp614=) c.1773G= (p.Trp591=) c.1764G= (p.Trp588=) c.1674G= (p.Trp558=) c.1209G= (p.Trp403=) c.378G= | |
| 14 | g.87939974C>G | CA390745547 | GALC | c.1842G>C (p.Trp614Cys) c.1773G>C (p.Trp591Cys) c.1764G>C (p.Trp588Cys) c.1674G>C (p.Trp558Cys) c.1209G>C (p.Trp403Cys) c.378G>C | |
| 14 | g.87939974C>T | CA390745548 | GALC | c.1842G>A (p.Trp614Ter) c.1773G>A (p.Trp591Ter) c.1764G>A (p.Trp588Ter) c.1674G>A (p.Trp558Ter) c.1209G>A (p.Trp403Ter) c.378G>A | ClinVar dbSNP |
| 14 | g.87939975C>A | CA390745549 | GALC | c.1841G>T (p.Trp614Leu) c.1772G>T (p.Trp591Leu) c.1763G>T (p.Trp588Leu) c.1673G>T (p.Trp558Leu) c.1208G>T (p.Trp403Leu) c.377G>T | |
| 14 | g.87939975C>G | CA390745550 | GALC | c.1841G>C (p.Trp614Ser) c.1772G>C (p.Trp591Ser) c.1763G>C (p.Trp588Ser) c.1673G>C (p.Trp558Ser) c.1208G>C (p.Trp403Ser) c.377G>C | |
| 14 | g.87939975C>T | CA390745551 | GALC | c.1841G>A (p.Trp614Ter) c.1772G>A (p.Trp591Ter) c.1763G>A (p.Trp588Ter) c.1673G>A (p.Trp558Ter) c.1208G>A (p.Trp403Ter) c.377G>A | |
| 14 | g.87939976A>C | CA390745552 | GALC | c.1840T>G (p.Trp614Gly) c.1771T>G (p.Trp591Gly) c.1762T>G (p.Trp588Gly) c.1672T>G (p.Trp558Gly) c.1207T>G (p.Trp403Gly) c.376T>G | |
| 14 | g.87939976A>G | CA390745553 | GALC | c.1840T>C (p.Trp614Arg) c.1771T>C (p.Trp591Arg) c.1762T>C (p.Trp588Arg) c.1672T>C (p.Trp558Arg) c.1207T>C (p.Trp403Arg) c.376T>C | |
| 14 | g.87939976A>T | CA390745554 | GALC | c.1840T>A (p.Trp614Arg) c.1771T>A (p.Trp591Arg) c.1762T>A (p.Trp588Arg) c.1672T>A (p.Trp558Arg) c.1207T>A (p.Trp403Arg) c.376T>A | |
| 14 | g.87939977T>A | CA487355325 | GALC | c.1839A>T (p.Gly613=) c.1770A>T (p.Gly590=) c.1761A>T (p.Gly587=) c.1671A>T (p.Gly557=) c.1206A>T (p.Gly402=) c.375A>T | ClinVar gnomAD v4 |
| 14 | g.87939977T>C | CA487355327 | GALC | c.1839A>G (p.Gly613=) c.1770A>G (p.Gly590=) c.1761A>G (p.Gly587=) c.1671A>G (p.Gly557=) c.1206A>G (p.Gly402=) c.375A>G | |
| 14 | g.87939977T>G | CA487355326 | GALC | c.1839A>C (p.Gly613=) c.1770A>C (p.Gly590=) c.1761A>C (p.Gly587=) c.1671A>C (p.Gly557=) c.1206A>C (p.Gly402=) c.375A>C | |
| 14 | g.87939978C>A | CA390745555 | GALC | c.1838G>T (p.Gly613Val) c.1769G>T (p.Gly590Val) c.1760G>T (p.Gly587Val) c.1670G>T (p.Gly557Val) c.1205G>T (p.Gly402Val) c.374G>T | |
| 14 | g.87939978C= | CA2153352725 | GALC | c.1838G= (p.Gly613=) c.1769G= (p.Gly590=) c.1760G= (p.Gly587=) c.1670G= (p.Gly557=) c.1205G= (p.Gly402=) c.374G= | |
| 14 | g.87939978C>G | CA390745556 | GALC | c.1838G>C (p.Gly613Ala) c.1769G>C (p.Gly590Ala) c.1760G>C (p.Gly587Ala) c.1670G>C (p.Gly557Ala) c.1205G>C (p.Gly402Ala) c.374G>C | |
| 14 | g.87939978C>T | CA390745557 | GALC | c.1838G>A (p.Gly613Glu) c.1769G>A (p.Gly590Glu) c.1760G>A (p.Gly587Glu) c.1670G>A (p.Gly557Glu) c.1205G>A (p.Gly402Glu) c.374G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87939979C>A | CA16041692 | GALC | c.1837G>T (p.Gly613Ter) c.1768G>T (p.Gly590Ter) c.1759G>T (p.Gly587Ter) c.1669G>T (p.Gly557Ter) c.1204G>T (p.Gly402Ter) c.373G>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.87939979C= | CA2153352726 | GALC | c.1837G= (p.Gly613=) c.1768G= (p.Gly590=) c.1759G= (p.Gly587=) c.1669G= (p.Gly557=) c.1204G= (p.Gly402=) c.373G= | |
| 14 | g.87939979C>G | CA390745559 | GALC | c.1837G>C (p.Gly613Arg) c.1768G>C (p.Gly590Arg) c.1759G>C (p.Gly587Arg) c.1669G>C (p.Gly557Arg) c.1204G>C (p.Gly402Arg) c.373G>C | |
| 14 | g.87939979C>T | CA390745558 | GALC | c.1837G>A (p.Gly613Arg) c.1768G>A (p.Gly590Arg) c.1759G>A (p.Gly587Arg) c.1669G>A (p.Gly557Arg) c.1204G>A (p.Gly402Arg) c.373G>A | gnomAD v4 |