| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87947841T>A | CA390746603 | GALC | c.1376A>T (p.His459Leu) c.1307A>T (p.His436Leu) c.1298A>T (p.His433Leu) c.1208A>T (p.His403Leu) c.743A>T (p.His248Leu) c.93A>T c.*774A>T (n.*774A>T) | gnomAD v4 |
| 14 | g.87947841T>C | CA7297025 | GALC | c.1376A>G (p.His459Arg) c.1307A>G (p.His436Arg) c.1298A>G (p.His433Arg) c.1208A>G (p.His403Arg) c.743A>G (p.His248Arg) c.93A>G c.*774A>G (n.*774A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87947841T>G | CA390746604 | GALC | c.1376A>C (p.His459Pro) c.1307A>C (p.His436Pro) c.1298A>C (p.His433Pro) c.1208A>C (p.His403Pro) c.743A>C (p.His248Pro) c.93A>C c.*774A>C (n.*774A>C) | |
| 14 | g.87947841T= | CA2153358898 | GALC | c.1376A= (p.His459=) c.1307A= (p.His436=) c.1298A= (p.His433=) c.1208A= (p.His403=) c.743A= (p.His248=) c.93A= c.*774A= (n.*774A=) | |
| 14 | g.87947842G>A | CA390746607 | GALC | c.1375C>T (p.His459Tyr) c.1306C>T (p.His436Tyr) c.1297C>T (p.His433Tyr) c.1207C>T (p.His403Tyr) c.742C>T (p.His248Tyr) c.92C>T c.*773C>T (n.*773C>T) | |
| 14 | g.87947842G>C | CA390746606 | GALC | c.1375C>G (p.His459Asp) c.1306C>G (p.His436Asp) c.1297C>G (p.His433Asp) c.1207C>G (p.His403Asp) c.742C>G (p.His248Asp) c.92C>G c.*773C>G (n.*773C>G) | |
| 14 | g.87947842G>T | CA390746605 | GALC | c.1375C>A (p.His459Asn) c.1306C>A (p.His436Asn) c.1297C>A (p.His433Asn) c.1207C>A (p.His403Asn) c.742C>A (p.His248Asn) c.92C>A c.*773C>A (n.*773C>A) | |
| 14 | g.87947843C>A | CA7297026 | GALC | c.1374G>T (p.Leu458=) c.1305G>T (p.Leu435=) c.1296G>T (p.Leu432=) c.1206G>T (p.Leu402=) c.741G>T (p.Leu247=) c.91G>T c.*772G>T (n.*772G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87947843C= | CA2153358901 | GALC | c.1374G= (p.Leu458=) c.1305G= (p.Leu435=) c.1296G= (p.Leu432=) c.1206G= (p.Leu402=) c.741G= (p.Leu247=) c.91G= c.*772G= (n.*772G=) | |
| 14 | g.87947843C>G | CA487355680 | GALC | c.1374G>C (p.Leu458=) c.1305G>C (p.Leu435=) c.1296G>C (p.Leu432=) c.1206G>C (p.Leu402=) c.741G>C (p.Leu247=) c.91G>C c.*772G>C (n.*772G>C) | |
| 14 | g.87947843C>T | CA487355681 | GALC | c.1374G>A (p.Leu458=) c.1305G>A (p.Leu435=) c.1296G>A (p.Leu432=) c.1206G>A (p.Leu402=) c.741G>A (p.Leu247=) c.91G>A c.*772G>A (n.*772G>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87947844A>C | CA390746608 | GALC | c.1373T>G (p.Leu458Arg) c.1304T>G (p.Leu435Arg) c.1295T>G (p.Leu432Arg) c.1205T>G (p.Leu402Arg) c.740T>G (p.Leu247Arg) c.90T>G c.*771T>G (n.*771T>G) | |
| 14 | g.87947844A>G | CA390746609 | GALC | c.1373T>C (p.Leu458Pro) c.1304T>C (p.Leu435Pro) c.1295T>C (p.Leu432Pro) c.1205T>C (p.Leu402Pro) c.740T>C (p.Leu247Pro) c.90T>C c.*771T>C (n.*771T>C) | |
| 14 | g.87947844A>T | CA390746610 | GALC | c.1373T>A (p.Leu458Gln) c.1304T>A (p.Leu435Gln) c.1295T>A (p.Leu432Gln) c.1205T>A (p.Leu402Gln) c.740T>A (p.Leu247Gln) c.90T>A c.*771T>A (n.*771T>A) | |
| 14 | g.87947845G>A | CA487355682 | GALC | c.1372C>T (p.Leu458=) c.1303C>T (p.Leu435=) c.1294C>T (p.Leu432=) c.1204C>T (p.Leu402=) c.739C>T (p.Leu247=) c.89C>T c.*770C>T (n.*770C>T) | |
| 14 | g.87947845G>C | CA390746611 | GALC | c.1372C>G (p.Leu458Val) c.1303C>G (p.Leu435Val) c.1294C>G (p.Leu432Val) c.1204C>G (p.Leu402Val) c.739C>G (p.Leu247Val) c.89C>G c.*770C>G (n.*770C>G) | |
| 14 | g.87947845G>T | CA390746612 | GALC | c.1372C>A (p.Leu458Met) c.1303C>A (p.Leu435Met) c.1294C>A (p.Leu432Met) c.1204C>A (p.Leu402Met) c.739C>A (p.Leu247Met) c.89C>A c.*770C>A (n.*770C>A) | |
| 14 | g.87947846G>A | CA487355683 | GALC | c.1371C>T (p.Ser457=) c.1302C>T (p.Ser434=) c.1293C>T (p.Ser431=) c.1203C>T (p.Ser401=) c.738C>T (p.Ser246=) c.88C>T c.*769C>T (n.*769C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87947846G>C | CA390746613 | GALC | c.1371C>G (p.Ser457Arg) c.1302C>G (p.Ser434Arg) c.1293C>G (p.Ser431Arg) c.1203C>G (p.Ser401Arg) c.738C>G (p.Ser246Arg) c.88C>G c.*769C>G (n.*769C>G) | |
| 14 | g.87947846G>T | CA390746614 | GALC | c.1371C>A (p.Ser457Arg) c.1302C>A (p.Ser434Arg) c.1293C>A (p.Ser431Arg) c.1203C>A (p.Ser401Arg) c.738C>A (p.Ser246Arg) c.88C>A c.*769C>A (n.*769C>A) | gnomAD v4 |
| 14 | g.87947847C>A | CA390746615 | GALC | c.1370G>T (p.Ser457Ile) c.1301G>T (p.Ser434Ile) c.1292G>T (p.Ser431Ile) c.1202G>T (p.Ser401Ile) c.737G>T (p.Ser246Ile) c.87G>T c.*768G>T (n.*768G>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87947847C= | CA2153358905 | GALC | c.1370G= (p.Ser457=) c.1301G= (p.Ser434=) c.1292G= (p.Ser431=) c.1202G= (p.Ser401=) c.737G= (p.Ser246=) c.87G= c.*768G= (n.*768G=) | |
| 14 | g.87947847C>G | CA390746616 | GALC | c.1370G>C (p.Ser457Thr) c.1301G>C (p.Ser434Thr) c.1292G>C (p.Ser431Thr) c.1202G>C (p.Ser401Thr) c.737G>C (p.Ser246Thr) c.87G>C c.*768G>C (n.*768G>C) | |
| 14 | g.87947847C>T | CA390746617 | GALC | c.1370G>A (p.Ser457Asn) c.1301G>A (p.Ser434Asn) c.1292G>A (p.Ser431Asn) c.1202G>A (p.Ser401Asn) c.737G>A (p.Ser246Asn) c.87G>A c.*768G>A (n.*768G>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87947848T>A | CA390746618 | GALC | c.1369A>T (p.Ser457Cys) c.1300A>T (p.Ser434Cys) c.1291A>T (p.Ser431Cys) c.1201A>T (p.Ser401Cys) c.736A>T (p.Ser246Cys) c.86A>T c.*767A>T (n.*767A>T) | |
| 14 | g.87947848T>C | CA390746619 | GALC | c.1369A>G (p.Ser457Gly) c.1300A>G (p.Ser434Gly) c.1291A>G (p.Ser431Gly) c.1201A>G (p.Ser401Gly) c.736A>G (p.Ser246Gly) c.86A>G c.*767A>G (n.*767A>G) | |
| 14 | g.87947848T>G | CA390746620 | GALC | c.1369A>C (p.Ser457Arg) c.1300A>C (p.Ser434Arg) c.1291A>C (p.Ser431Arg) c.1201A>C (p.Ser401Arg) c.736A>C (p.Ser246Arg) c.86A>C c.*767A>C (n.*767A>C) | |
| 14 | g.87947849C>A | CA487355684 | GALC | c.1368G>T (p.Leu456=) c.1299G>T (p.Leu433=) c.1290G>T (p.Leu430=) c.1200G>T (p.Leu400=) c.735G>T (p.Leu245=) c.85G>T c.*766G>T (n.*766G>T) | |
| 14 | g.87947849C>G | CA487355685 | GALC | c.1368G>C (p.Leu456=) c.1299G>C (p.Leu433=) c.1290G>C (p.Leu430=) c.1200G>C (p.Leu400=) c.735G>C (p.Leu245=) c.85G>C c.*766G>C (n.*766G>C) | |
| 14 | g.87947849C>T | CA487355686 | GALC | c.1368G>A (p.Leu456=) c.1299G>A (p.Leu433=) c.1290G>A (p.Leu430=) c.1200G>A (p.Leu400=) c.735G>A (p.Leu245=) c.85G>A c.*766G>A (n.*766G>A) | |
| 14 | g.87947849_87947850del | CA2573150294 | GALC | c.1367_1368del (p.Leu456GlnfsTer4) c.1298_1299del (p.Leu433GlnfsTer4) c.1289_1290del (p.Leu430GlnfsTer4) c.1199_1200del (p.Leu400GlnfsTer4) c.734_735del (p.Leu245GlnfsTer4) c.84_85del c.*765_*766del (n.*765_*766del) | ClinVar dbSNP |
| 14 | g.87947850A>C | CA390746623 | GALC | c.1367T>G (p.Leu456Arg) c.1298T>G (p.Leu433Arg) c.1289T>G (p.Leu430Arg) c.1199T>G (p.Leu400Arg) c.734T>G (p.Leu245Arg) c.84T>G c.*765T>G (n.*765T>G) | |
| 14 | g.87947850A>G | CA390746621 | GALC | c.1367T>C (p.Leu456Pro) c.1298T>C (p.Leu433Pro) c.1289T>C (p.Leu430Pro) c.1199T>C (p.Leu400Pro) c.734T>C (p.Leu245Pro) c.84T>C c.*765T>C (n.*765T>C) | ClinVar gnomAD v4 |
| 14 | g.87947850A>T | CA390746622 | GALC | c.1367T>A (p.Leu456Gln) c.1298T>A (p.Leu433Gln) c.1289T>A (p.Leu430Gln) c.1199T>A (p.Leu400Gln) c.734T>A (p.Leu245Gln) c.84T>A c.*765T>A (n.*765T>A) | gnomAD v4 |
| 14 | g.87947850_87947851insCACT | CA2530080412 | GALC | c.1366_1367insAGTG (p.Leu456GlnfsTer6) c.1297_1298insAGTG (p.Leu433GlnfsTer6) c.1288_1289insAGTG (p.Leu430GlnfsTer6) c.1198_1199insAGTG (p.Leu400GlnfsTer6) c.733_734insAGTG (p.Leu245GlnfsTer6) c.83_84insAGTG c.*764_*765insAGTG (n.*764_*765insAGTG) | gnomAD v4 |
| 14 | g.87947851G>A | CA487355687 | GALC | c.1366C>T (p.Leu456=) c.1297C>T (p.Leu433=) c.1288C>T (p.Leu430=) c.1198C>T (p.Leu400=) c.733C>T (p.Leu245=) c.83C>T c.*764C>T (n.*764C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87947851G>C | CA390746624 | GALC | c.1366C>G (p.Leu456Val) c.1297C>G (p.Leu433Val) c.1288C>G (p.Leu430Val) c.1198C>G (p.Leu400Val) c.733C>G (p.Leu245Val) c.83C>G c.*764C>G (n.*764C>G) | ClinVar gnomAD v4 |
| 14 | g.87947851G>T | CA390746625 | GALC | c.1366C>A (p.Leu456Met) c.1297C>A (p.Leu433Met) c.1288C>A (p.Leu430Met) c.1198C>A (p.Leu400Met) c.733C>A (p.Leu245Met) c.83C>A c.*764C>A (n.*764C>A) | |
| 14 | g.87947854_87947855del | CA2580612784 | GALC | c.1365_1366del (p.Leu456GlufsTer4) c.1296_1297del (p.Leu433GlufsTer4) c.1287_1288del (p.Leu430GlufsTer4) c.1197_1198del (p.Leu400GlufsTer4) c.732_733del (p.Leu245GlufsTer4) c.82_83del c.*763_*764del (n.*763_*764del) | ClinVar |
| 14 | g.87947851_87947852insAGCC | CA2508350337 | GALC | c.1365_1366insGGCT (p.Leu456GlyfsTer6) c.1296_1297insGGCT (p.Leu433GlyfsTer6) c.1287_1288insGGCT (p.Leu430GlyfsTer6) c.1197_1198insGGCT (p.Leu400GlyfsTer6) c.732_733insGGCT (p.Leu245GlyfsTer6) c.82_83insGGCT c.*763_*764insGGCT (n.*763_*764insGGCT) | gnomAD v4 |
| 14 | g.87947852T>A | CA487355688 | GALC | c.1365A>T (p.Thr455=) c.1296A>T (p.Thr432=) c.1287A>T (p.Thr429=) c.1197A>T (p.Thr399=) c.732A>T (p.Thr244=) c.82A>T c.*763A>T (n.*763A>T) | |
| 14 | g.87947852T>C | CA487355690 | GALC | c.1365A>G (p.Thr455=) c.1296A>G (p.Thr432=) c.1287A>G (p.Thr429=) c.1197A>G (p.Thr399=) c.732A>G (p.Thr244=) c.82A>G c.*763A>G (n.*763A>G) | |
| 14 | g.87947852T>G | CA487355689 | GALC | c.1365A>C (p.Thr455=) c.1296A>C (p.Thr432=) c.1287A>C (p.Thr429=) c.1197A>C (p.Thr399=) c.732A>C (p.Thr244=) c.82A>C c.*763A>C (n.*763A>C) | dbSNP |
| 14 | g.87947852T= | CA2153358908 | GALC | c.1365A= (p.Thr455=) c.1296A= (p.Thr432=) c.1287A= (p.Thr429=) c.1197A= (p.Thr399=) c.732A= (p.Thr244=) c.82A= c.*763A= (n.*763A=) | |
| 14 | g.87947853G>A | CA390746626 | GALC | c.1364C>T (p.Thr455Ile) c.1295C>T (p.Thr432Ile) c.1286C>T (p.Thr429Ile) c.1196C>T (p.Thr399Ile) c.731C>T (p.Thr244Ile) c.81C>T c.*762C>T (n.*762C>T) | ClinVar gnomAD v4 |
| 14 | g.87947853G>C | CA390746627 | GALC | c.1364C>G (p.Thr455Arg) c.1295C>G (p.Thr432Arg) c.1286C>G (p.Thr429Arg) c.1196C>G (p.Thr399Arg) c.731C>G (p.Thr244Arg) c.81C>G c.*762C>G (n.*762C>G) | |
| 14 | g.87947853G>T | CA390746628 | GALC | c.1364C>A (p.Thr455Lys) c.1295C>A (p.Thr432Lys) c.1286C>A (p.Thr429Lys) c.1196C>A (p.Thr399Lys) c.731C>A (p.Thr244Lys) c.81C>A c.*762C>A (n.*762C>A) | |
| 14 | g.87947853_87947854insCA | CA2515688043 | GALC | c.1363_1364insTG (p.Thr455MetfsTer3) c.1294_1295insTG (p.Thr432MetfsTer3) c.1285_1286insTG (p.Thr429MetfsTer3) c.1195_1196insTG (p.Thr399MetfsTer3) c.730_731insTG (p.Thr244MetfsTer3) c.80_81insTG c.*761_*762insTG (n.*761_*762insTG) | gnomAD v4 |
| 14 | g.87947854T>A | CA390746629 | GALC | c.1363A>T (p.Thr455Ser) c.1294A>T (p.Thr432Ser) c.1285A>T (p.Thr429Ser) c.1195A>T (p.Thr399Ser) c.730A>T (p.Thr244Ser) c.80A>T c.*761A>T (n.*761A>T) | |
| 14 | g.87947854T>C | CA390746630 | GALC | c.1363A>G (p.Thr455Ala) c.1294A>G (p.Thr432Ala) c.1285A>G (p.Thr429Ala) c.1195A>G (p.Thr399Ala) c.730A>G (p.Thr244Ala) c.80A>G c.*761A>G (n.*761A>G) |