UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87947735G>A | CA487355607 | GALC | c.1482C>T (p.Phe494=) c.1413C>T (p.Phe471=) c.1404C>T (p.Phe468=) c.1314C>T (p.Phe438=) c.849C>T (p.Phe283=) c.199C>T c.*880C>T (n.*880C>T) | |
| 14 | g.87947735G>C | CA390746379 | GALC | c.1482C>G (p.Phe494Leu) c.1413C>G (p.Phe471Leu) c.1404C>G (p.Phe468Leu) c.1314C>G (p.Phe438Leu) c.849C>G (p.Phe283Leu) c.199C>G c.*880C>G (n.*880C>G) | |
| 14 | g.87947735G>T | CA390746380 | GALC | c.1482C>A (p.Phe494Leu) c.1413C>A (p.Phe471Leu) c.1404C>A (p.Phe468Leu) c.1314C>A (p.Phe438Leu) c.849C>A (p.Phe283Leu) c.199C>A c.*880C>A (n.*880C>A) | |
| 14 | g.87947736A>C | CA390746381 | GALC | c.1481T>G (p.Phe494Cys) c.1412T>G (p.Phe471Cys) c.1403T>G (p.Phe468Cys) c.1313T>G (p.Phe438Cys) c.848T>G (p.Phe283Cys) c.198T>G c.*879T>G (n.*879T>G) | |
| 14 | g.87947736A>G | CA390746382 | GALC | c.1481T>C (p.Phe494Ser) c.1412T>C (p.Phe471Ser) c.1403T>C (p.Phe468Ser) c.1313T>C (p.Phe438Ser) c.848T>C (p.Phe283Ser) c.198T>C c.*879T>C (n.*879T>C) | |
| 14 | g.87947736A>T | CA390746383 | GALC | c.1481T>A (p.Phe494Tyr) c.1412T>A (p.Phe471Tyr) c.1403T>A (p.Phe468Tyr) c.1313T>A (p.Phe438Tyr) c.848T>A (p.Phe283Tyr) c.198T>A c.*879T>A (n.*879T>A) | |
| 14 | g.87947737A>C | CA390746386 | GALC | c.1480T>G (p.Phe494Val) c.1411T>G (p.Phe471Val) c.1402T>G (p.Phe468Val) c.1312T>G (p.Phe438Val) c.847T>G (p.Phe283Val) c.197T>G c.*878T>G (n.*878T>G) | |
| 14 | g.87947737A>G | CA390746385 | GALC | c.1480T>C (p.Phe494Leu) c.1411T>C (p.Phe471Leu) c.1402T>C (p.Phe468Leu) c.1312T>C (p.Phe438Leu) c.847T>C (p.Phe283Leu) c.197T>C c.*878T>C (n.*878T>C) | |
| 14 | g.87947737A>T | CA390746384 | GALC | c.1480T>A (p.Phe494Ile) c.1411T>A (p.Phe471Ile) c.1402T>A (p.Phe468Ile) c.1312T>A (p.Phe438Ile) c.847T>A (p.Phe283Ile) c.197T>A c.*878T>A (n.*878T>A) | |
| 14 | g.87947738A>C | CA390746387 | GALC | c.1479T>G (p.Asp493Glu) c.1410T>G (p.Asp470Glu) c.1401T>G (p.Asp467Glu) c.1311T>G (p.Asp437Glu) c.846T>G (p.Asp282Glu) c.196T>G c.*877T>G (n.*877T>G) | gnomAD v4 |
| 14 | g.87947738A>G | CA487355608 | GALC | c.1479T>C (p.Asp493=) c.1410T>C (p.Asp470=) c.1401T>C (p.Asp467=) c.1311T>C (p.Asp437=) c.846T>C (p.Asp282=) c.196T>C c.*877T>C (n.*877T>C) | |
| 14 | g.87947738A>T | CA390746388 | GALC | c.1479T>A (p.Asp493Glu) c.1410T>A (p.Asp470Glu) c.1401T>A (p.Asp467Glu) c.1311T>A (p.Asp437Glu) c.846T>A (p.Asp282Glu) c.196T>A c.*877T>A (n.*877T>A) | |
| 14 | g.87947739T>A | CA390746389 | GALC | c.1478A>T (p.Asp493Val) c.1409A>T (p.Asp470Val) c.1400A>T (p.Asp467Val) c.1310A>T (p.Asp437Val) c.845A>T (p.Asp282Val) c.195A>T c.*876A>T (n.*876A>T) | |
| 14 | g.87947739T>C | CA390746390 | GALC | c.1478A>G (p.Asp493Gly) c.1409A>G (p.Asp470Gly) c.1400A>G (p.Asp467Gly) c.1310A>G (p.Asp437Gly) c.845A>G (p.Asp282Gly) c.195A>G c.*876A>G (n.*876A>G) | |
| 14 | g.87947739T>G | CA390746391 | GALC | c.1478A>C (p.Asp493Ala) c.1409A>C (p.Asp470Ala) c.1400A>C (p.Asp467Ala) c.1310A>C (p.Asp437Ala) c.845A>C (p.Asp282Ala) c.195A>C c.*876A>C (n.*876A>C) | |
| 14 | g.87947740C>A | CA390746392 | GALC | c.1477G>T (p.Asp493Tyr) c.1408G>T (p.Asp470Tyr) c.1399G>T (p.Asp467Tyr) c.1309G>T (p.Asp437Tyr) c.844G>T (p.Asp282Tyr) c.194G>T c.*875G>T (n.*875G>T) | |
| 14 | g.87947740C>G | CA390746393 | GALC | c.1477G>C (p.Asp493His) c.1408G>C (p.Asp470His) c.1399G>C (p.Asp467His) c.1309G>C (p.Asp437His) c.844G>C (p.Asp282His) c.194G>C c.*875G>C (n.*875G>C) | |
| 14 | g.87947740C>T | CA390746394 | GALC | c.1477G>A (p.Asp493Asn) c.1408G>A (p.Asp470Asn) c.1399G>A (p.Asp467Asn) c.1309G>A (p.Asp437Asn) c.844G>A (p.Asp282Asn) c.194G>A c.*875G>A (n.*875G>A) | |
| 14 | g.87947741A= | CA2153358750 | GALC | c.1476T= (p.Asp492=) c.1407T= (p.Asp469=) c.1398T= (p.Asp466=) c.1308T= (p.Asp436=) c.843T= (p.Asp281=) c.193T= c.*874T= (n.*874T=) | |
| 14 | g.87947741A>C | CA390746395 | GALC | c.1476T>G (p.Asp492Glu) c.1407T>G (p.Asp469Glu) c.1398T>G (p.Asp466Glu) c.1308T>G (p.Asp436Glu) c.843T>G (p.Asp281Glu) c.193T>G c.*874T>G (n.*874T>G) | |
| 14 | g.87947741A>G | CA487355609 | GALC | c.1476T>C (p.Asp492=) c.1407T>C (p.Asp469=) c.1398T>C (p.Asp466=) c.1308T>C (p.Asp436=) c.843T>C (p.Asp281=) c.193T>C c.*874T>C (n.*874T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87947741A>T | CA390746396 | GALC | c.1476T>A (p.Asp492Glu) c.1407T>A (p.Asp469Glu) c.1398T>A (p.Asp466Glu) c.1308T>A (p.Asp436Glu) c.843T>A (p.Asp281Glu) c.193T>A c.*874T>A (n.*874T>A) | |
| 14 | g.87947742T>A | CA390746397 | GALC | c.1475A>T (p.Asp492Val) c.1406A>T (p.Asp469Val) c.1397A>T (p.Asp466Val) c.1307A>T (p.Asp436Val) c.842A>T (p.Asp281Val) c.192A>T c.*873A>T (n.*873A>T) | |
| 14 | g.87947742T>C | CA390746398 | GALC | c.1475A>G (p.Asp492Gly) c.1406A>G (p.Asp469Gly) c.1397A>G (p.Asp466Gly) c.1307A>G (p.Asp436Gly) c.842A>G (p.Asp281Gly) c.192A>G c.*873A>G (n.*873A>G) | |
| 14 | g.87947742T>G | CA390746399 | GALC | c.1475A>C (p.Asp492Ala) c.1406A>C (p.Asp469Ala) c.1397A>C (p.Asp466Ala) c.1307A>C (p.Asp436Ala) c.842A>C (p.Asp281Ala) c.192A>C c.*873A>C (n.*873A>C) | |
| 14 | g.87947743C>A | CA390746401 | GALC | c.1474G>T (p.Asp492Tyr) c.1405G>T (p.Asp469Tyr) c.1396G>T (p.Asp466Tyr) c.1306G>T (p.Asp436Tyr) c.841G>T (p.Asp281Tyr) c.191G>T c.*872G>T (n.*872G>T) | |
| 14 | g.87947743C>G | CA390746402 | GALC | c.1474G>C (p.Asp492His) c.1405G>C (p.Asp469His) c.1396G>C (p.Asp466His) c.1306G>C (p.Asp436His) c.841G>C (p.Asp281His) c.191G>C c.*872G>C (n.*872G>C) | |
| 14 | g.87947743C>T | CA390746400 | GALC | c.1474G>A (p.Asp492Asn) c.1405G>A (p.Asp469Asn) c.1396G>A (p.Asp466Asn) c.1306G>A (p.Asp436Asn) c.841G>A (p.Asp281Asn) c.191G>A c.*872G>A (n.*872G>A) | |
| 14 | g.87947744C>A | CA390746403 | GALC | c.1473G>T (p.Lys491Asn) c.1404G>T (p.Lys468Asn) c.1395G>T (p.Lys465Asn) c.1305G>T (p.Lys435Asn) c.840G>T (p.Lys280Asn) c.190G>T c.*871G>T (n.*871G>T) | |
| 14 | g.87947744C>G | CA390746404 | GALC | c.1473G>C (p.Lys491Asn) c.1404G>C (p.Lys468Asn) c.1395G>C (p.Lys465Asn) c.1305G>C (p.Lys435Asn) c.840G>C (p.Lys280Asn) c.190G>C c.*871G>C (n.*871G>C) | |
| 14 | g.87947744C>T | CA487355610 | GALC | c.1473G>A (p.Lys491=) c.1404G>A (p.Lys468=) c.1395G>A (p.Lys465=) c.1305G>A (p.Lys435=) c.840G>A (p.Lys280=) c.190G>A c.*871G>A (n.*871G>A) | |
| 14 | g.87947744_87947745delinsCT | CA2153358752 | GALC | c.1472_1473delinsAG (p.Lys491=) c.1403_1404delinsAG (p.Lys468=) c.1394_1395delinsAG (p.Lys465=) c.1304_1305delinsAG (p.Lys435=) c.839_840delinsAG (p.Lys280=) c.189_190delinsAG c.*870_*871delinsAG (n.*870_*871delinsAG) | |
| 14 | g.87947745T>A | CA390746405 | GALC | c.1472A>T (p.Lys491Met) c.1403A>T (p.Lys468Met) c.1394A>T (p.Lys465Met) c.1304A>T (p.Lys435Met) c.839A>T (p.Lys280Met) c.189A>T c.*870A>T (n.*870A>T) | |
| 14 | g.87947745T>C | CA264685585 | GALC | c.1472A>G (p.Lys491Arg) c.1403A>G (p.Lys468Arg) c.1394A>G (p.Lys465Arg) c.1304A>G (p.Lys435Arg) c.839A>G (p.Lys280Arg) c.189A>G c.*870A>G (n.*870A>G) | dbSNP |
| 14 | g.87947745T>G | CA390746406 | GALC | c.1472A>C (p.Lys491Thr) c.1403A>C (p.Lys468Thr) c.1394A>C (p.Lys465Thr) c.1304A>C (p.Lys435Thr) c.839A>C (p.Lys280Thr) c.189A>C c.*870A>C (n.*870A>C) | |
| 14 | g.87947745T= | CA2153358758 | GALC | c.1472A= (p.Lys491=) c.1403A= (p.Lys468=) c.1394A= (p.Lys465=) c.1304A= (p.Lys435=) c.839A= (p.Lys280=) c.189A= c.*870A= (n.*870A=) | |
| 14 | g.87947746del | CA274007 | GALC | c.1472del (p.Lys491ArgfsTer?) c.1403del (p.Lys468ArgfsTer?) c.1394del (p.Lys465ArgfsTer?) c.1304del (p.Lys435ArgfsTer?) c.839del (p.Lys280ArgfsTer?) c.189del c.*870del (n.*870del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87947746T>A | CA390746409 | GALC | c.1471A>T (p.Lys491Ter) c.1402A>T (p.Lys468Ter) c.1393A>T (p.Lys465Ter) c.1303A>T (p.Lys435Ter) c.838A>T (p.Lys280Ter) c.188A>T c.*869A>T (n.*869A>T) | |
| 14 | g.87947746T>C | CA390746407 | GALC | c.1471A>G (p.Lys491Glu) c.1402A>G (p.Lys468Glu) c.1393A>G (p.Lys465Glu) c.1303A>G (p.Lys435Glu) c.838A>G (p.Lys280Glu) c.188A>G c.*869A>G (n.*869A>G) | |
| 14 | g.87947746T>G | CA390746408 | GALC | c.1471A>C (p.Lys491Gln) c.1402A>C (p.Lys468Gln) c.1393A>C (p.Lys465Gln) c.1303A>C (p.Lys435Gln) c.838A>C (p.Lys280Gln) c.188A>C c.*869A>C (n.*869A>C) | |
| 14 | g.87947746_87947747delinsTA | CA2153358762 | GALC | c.1470_1471delinsTA (p.Tyr490=) c.1401_1402delinsTA (p.Tyr467=) c.1392_1393delinsTA (p.Tyr464=) c.1302_1303delinsTA (p.Tyr434=) c.837_838delinsTA (p.Tyr279=) c.187_188delinsTA c.*868_*869delinsTA (n.*868_*869delinsTA) | |
| 14 | g.87947747del | CA615271327 | GALC | c.1470del (p.Tyr490Ter) c.1401del (p.Tyr467Ter) c.1392del (p.Tyr464Ter) c.1302del (p.Tyr434Ter) c.837del (p.Tyr279Ter) c.187del c.*868del (n.*868del) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87947747A>C | CA390746410 | GALC | c.1470T>G (p.Tyr490Ter) c.1401T>G (p.Tyr467Ter) c.1392T>G (p.Tyr464Ter) c.1302T>G (p.Tyr434Ter) c.837T>G (p.Tyr279Ter) c.187T>G c.*868T>G (n.*868T>G) | |
| 14 | g.87947747A>G | CA487355611 | GALC | c.1470T>C (p.Tyr490=) c.1401T>C (p.Tyr467=) c.1392T>C (p.Tyr464=) c.1302T>C (p.Tyr434=) c.837T>C (p.Tyr279=) c.187T>C c.*868T>C (n.*868T>C) | |
| 14 | g.87947747A>T | CA390746411 | GALC | c.1470T>A (p.Tyr490Ter) c.1401T>A (p.Tyr467Ter) c.1392T>A (p.Tyr464Ter) c.1302T>A (p.Tyr434Ter) c.837T>A (p.Tyr279Ter) c.187T>A c.*868T>A (n.*868T>A) | |
| 14 | g.87947748T>A | CA390746412 | GALC | c.1469A>T (p.Tyr490Phe) c.1400A>T (p.Tyr467Phe) c.1391A>T (p.Tyr464Phe) c.1301A>T (p.Tyr434Phe) c.836A>T (p.Tyr279Phe) c.186A>T c.*867A>T (n.*867A>T) | |
| 14 | g.87947748T>C | CA390746413 | GALC | c.1469A>G (p.Tyr490Cys) c.1400A>G (p.Tyr467Cys) c.1391A>G (p.Tyr464Cys) c.1301A>G (p.Tyr434Cys) c.836A>G (p.Tyr279Cys) c.186A>G c.*867A>G (n.*867A>G) | ClinVar gnomAD v4 |
| 14 | g.87947748T>G | CA390746414 | GALC | c.1469A>C (p.Tyr490Ser) c.1400A>C (p.Tyr467Ser) c.1391A>C (p.Tyr464Ser) c.1301A>C (p.Tyr434Ser) c.836A>C (p.Tyr279Ser) c.186A>C c.*867A>C (n.*867A>C) | |
| 14 | g.87947749A= | CA2153358766 | GALC | c.1468T= (p.Tyr490=) c.1399T= (p.Tyr467=) c.1390T= (p.Tyr464=) c.1300T= (p.Tyr434=) c.835T= (p.Tyr279=) c.185T= c.*866T= (n.*866T=) | |
| 14 | g.87947749A>C | CA390746416 | GALC | c.1468T>G (p.Tyr490Asp) c.1399T>G (p.Tyr467Asp) c.1390T>G (p.Tyr464Asp) c.1300T>G (p.Tyr434Asp) c.835T>G (p.Tyr279Asp) c.185T>G c.*866T>G (n.*866T>G) | ClinVar |
| 14 | g.87947749A>G | CA390746415 | GALC | c.1468T>C (p.Tyr490His) c.1399T>C (p.Tyr467His) c.1390T>C (p.Tyr464His) c.1300T>C (p.Tyr434His) c.835T>C (p.Tyr279His) c.185T>C c.*866T>C (n.*866T>C) | |
| 14 | g.87947749A>T | CA264685589 | GALC | c.1468T>A (p.Tyr490Asn) c.1399T>A (p.Tyr467Asn) c.1390T>A (p.Tyr464Asn) c.1300T>A (p.Tyr434Asn) c.835T>A (p.Tyr279Asn) c.185T>A c.*866T>A (n.*866T>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87947750G>A | CA487355612 | GALC | c.1467C>T (p.Thr489=) c.1398C>T (p.Thr466=) c.1389C>T (p.Thr463=) c.1299C>T (p.Thr433=) c.834C>T (p.Thr278=) c.184C>T c.*865C>T (n.*865C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87947750G>C | CA487355613 | GALC | c.1467C>G (p.Thr489=) c.1398C>G (p.Thr466=) c.1389C>G (p.Thr463=) c.1299C>G (p.Thr433=) c.834C>G (p.Thr278=) c.184C>G c.*865C>G (n.*865C>G) | |
| 14 | g.87947750G= | CA2153358769 | GALC | c.1467C= (p.Thr489=) c.1398C= (p.Thr466=) c.1389C= (p.Thr463=) c.1299C= (p.Thr433=) c.834C= (p.Thr278=) c.184C= c.*865C= (n.*865C=) | |
| 14 | g.87947750G>T | CA487355614 | GALC | c.1467C>A (p.Thr489=) c.1398C>A (p.Thr466=) c.1389C>A (p.Thr463=) c.1299C>A (p.Thr433=) c.834C>A (p.Thr278=) c.184C>A c.*865C>A (n.*865C>A) | gnomAD v4 |
| 14 | g.87947751G>A | CA390746417 | GALC | c.1466C>T (p.Thr489Ile) c.1397C>T (p.Thr466Ile) c.1388C>T (p.Thr463Ile) c.1298C>T (p.Thr433Ile) c.833C>T (p.Thr278Ile) c.183C>T c.*864C>T (n.*864C>T) | |
| 14 | g.87947751G>C | CA390746418 | GALC | c.1466C>G (p.Thr489Ser) c.1397C>G (p.Thr466Ser) c.1388C>G (p.Thr463Ser) c.1298C>G (p.Thr433Ser) c.833C>G (p.Thr278Ser) c.183C>G c.*864C>G (n.*864C>G) | |
| 14 | g.87947751G>T | CA390746419 | GALC | c.1466C>A (p.Thr489Asn) c.1397C>A (p.Thr466Asn) c.1388C>A (p.Thr463Asn) c.1298C>A (p.Thr433Asn) c.833C>A (p.Thr278Asn) c.183C>A c.*864C>A (n.*864C>A) | |
| 14 | g.87947752T>A | CA390746420 | GALC | c.1465A>T (p.Thr489Ser) c.1396A>T (p.Thr466Ser) c.1387A>T (p.Thr463Ser) c.1297A>T (p.Thr433Ser) c.832A>T (p.Thr278Ser) c.182A>T c.*863A>T (n.*863A>T) | |
| 14 | g.87947752T>C | CA7297011 | GALC | c.1465A>G (p.Thr489Ala) c.1396A>G (p.Thr466Ala) c.1387A>G (p.Thr463Ala) c.1297A>G (p.Thr433Ala) c.832A>G (p.Thr278Ala) c.182A>G c.*863A>G (n.*863A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947752T>G | CA390746421 | GALC | c.1465A>C (p.Thr489Pro) c.1396A>C (p.Thr466Pro) c.1387A>C (p.Thr463Pro) c.1297A>C (p.Thr433Pro) c.832A>C (p.Thr278Pro) c.182A>C c.*863A>C (n.*863A>C) | |
| 14 | g.87947752T= | CA2153358770 | GALC | c.1465A= (p.Thr489=) c.1396A= (p.Thr466=) c.1387A= (p.Thr463=) c.1297A= (p.Thr433=) c.832A= (p.Thr278=) c.182A= c.*863A= (n.*863A=) | |
| 14 | g.87947752dup | CA2573150292 | GALC | c.1465dup (p.Thr489AsnfsTer3) c.1396dup (p.Thr466AsnfsTer3) c.1387dup (p.Thr463AsnfsTer3) c.1297dup (p.Thr433AsnfsTer3) c.832dup (p.Thr278AsnfsTer3) c.182dup c.*863dup (n.*863dup) | ClinVar dbSNP |
| 14 | g.87947753A>C | CA390746423 | GALC | c.1464T>G (p.Ser488Arg) c.1395T>G (p.Ser465Arg) c.1386T>G (p.Ser462Arg) c.1296T>G (p.Ser432Arg) c.831T>G (p.Ser277Arg) c.181T>G c.*862T>G (n.*862T>G) | |
| 14 | g.87947753A>G | CA487355615 | GALC | c.1464T>C (p.Ser488=) c.1395T>C (p.Ser465=) c.1386T>C (p.Ser462=) c.1296T>C (p.Ser432=) c.831T>C (p.Ser277=) c.181T>C c.*862T>C (n.*862T>C) | ClinVar |
| 14 | g.87947753A>T | CA390746422 | GALC | c.1464T>A (p.Ser488Arg) c.1395T>A (p.Ser465Arg) c.1386T>A (p.Ser462Arg) c.1296T>A (p.Ser432Arg) c.831T>A (p.Ser277Arg) c.181T>A c.*862T>A (n.*862T>A) | |
| 14 | g.87947754C>A | CA390746424 | GALC | c.1463G>T (p.Ser488Ile) c.1394G>T (p.Ser465Ile) c.1385G>T (p.Ser462Ile) c.1295G>T (p.Ser432Ile) c.830G>T (p.Ser277Ile) c.180G>T c.*861G>T (n.*861G>T) | |
| 14 | g.87947754C= | CA2153358772 | GALC | c.1463G= (p.Ser488=) c.1394G= (p.Ser465=) c.1385G= (p.Ser462=) c.1295G= (p.Ser432=) c.830G= (p.Ser277=) c.180G= c.*861G= (n.*861G=) | |
| 14 | g.87947754C>G | CA390746425 | GALC | c.1463G>C (p.Ser488Thr) c.1394G>C (p.Ser465Thr) c.1385G>C (p.Ser462Thr) c.1295G>C (p.Ser432Thr) c.830G>C (p.Ser277Thr) c.180G>C c.*861G>C (n.*861G>C) | |
| 14 | g.87947754C>T | CA264685595 | GALC | c.1463G>A (p.Ser488Asn) c.1394G>A (p.Ser465Asn) c.1385G>A (p.Ser462Asn) c.1295G>A (p.Ser432Asn) c.830G>A (p.Ser277Asn) c.180G>A c.*861G>A (n.*861G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947755T>A | CA390746426 | GALC | c.1462A>T (p.Ser488Cys) c.1393A>T (p.Ser465Cys) c.1384A>T (p.Ser462Cys) c.1294A>T (p.Ser432Cys) c.829A>T (p.Ser277Cys) c.179A>T c.*860A>T (n.*860A>T) | |
| 14 | g.87947755T>C | CA390746427 | GALC | c.1462A>G (p.Ser488Gly) c.1393A>G (p.Ser465Gly) c.1384A>G (p.Ser462Gly) c.1294A>G (p.Ser432Gly) c.829A>G (p.Ser277Gly) c.179A>G c.*860A>G (n.*860A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87947755T>G | CA390746428 | GALC | c.1462A>C (p.Ser488Arg) c.1393A>C (p.Ser465Arg) c.1384A>C (p.Ser462Arg) c.1294A>C (p.Ser432Arg) c.829A>C (p.Ser277Arg) c.179A>C c.*860A>C (n.*860A>C) | |
| 14 | g.87947755T= | CA2153358773 | GALC | c.1462A= (p.Ser488=) c.1393A= (p.Ser465=) c.1384A= (p.Ser462=) c.1294A= (p.Ser432=) c.829A= (p.Ser277=) c.179A= c.*860A= (n.*860A=) | |
| 14 | g.87947756T>A | CA487355616 | GALC | c.1461A>T (p.Pro487=) c.1392A>T (p.Pro464=) c.1383A>T (p.Pro461=) c.1293A>T (p.Pro431=) c.828A>T (p.Pro276=) c.178A>T c.*859A>T (n.*859A>T) | |
| 14 | g.87947756T>C | CA487355617 | GALC | c.1461A>G (p.Pro487=) c.1392A>G (p.Pro464=) c.1383A>G (p.Pro461=) c.1293A>G (p.Pro431=) c.828A>G (p.Pro276=) c.178A>G c.*859A>G (n.*859A>G) | gnomAD v4 |
| 14 | g.87947756T>G | CA487355618 | GALC | c.1461A>C (p.Pro487=) c.1392A>C (p.Pro464=) c.1383A>C (p.Pro461=) c.1293A>C (p.Pro431=) c.828A>C (p.Pro276=) c.178A>C c.*859A>C (n.*859A>C) | |
| 14 | g.87947757G>A | CA264685596 | GALC | c.1460C>T (p.Pro487Leu) c.1391C>T (p.Pro464Leu) c.1382C>T (p.Pro461Leu) c.1292C>T (p.Pro431Leu) c.827C>T (p.Pro276Leu) c.177C>T c.*858C>T (n.*858C>T) | ClinVar dbSNP |
| 14 | g.87947757G>C | CA390746430 | GALC | c.1460C>G (p.Pro487Arg) c.1391C>G (p.Pro464Arg) c.1382C>G (p.Pro461Arg) c.1292C>G (p.Pro431Arg) c.827C>G (p.Pro276Arg) c.177C>G c.*858C>G (n.*858C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87947757G= | CA2153358774 | GALC | c.1460C= (p.Pro487=) c.1391C= (p.Pro464=) c.1382C= (p.Pro461=) c.1292C= (p.Pro431=) c.827C= (p.Pro276=) c.177C= c.*858C= (n.*858C=) | |
| 14 | g.87947757G>T | CA390746429 | GALC | c.1460C>A (p.Pro487Gln) c.1391C>A (p.Pro464Gln) c.1382C>A (p.Pro461Gln) c.1292C>A (p.Pro431Gln) c.827C>A (p.Pro276Gln) c.177C>A c.*858C>A (n.*858C>A) | |
| 14 | g.87947758G>A | CA390746431 | GALC | c.1459C>T (p.Pro487Ser) c.1390C>T (p.Pro464Ser) c.1381C>T (p.Pro461Ser) c.1291C>T (p.Pro431Ser) c.826C>T (p.Pro276Ser) c.176C>T c.*857C>T (n.*857C>T) | ClinVar |
| 14 | g.87947758G>C | CA390746432 | GALC | c.1459C>G (p.Pro487Ala) c.1390C>G (p.Pro464Ala) c.1381C>G (p.Pro461Ala) c.1291C>G (p.Pro431Ala) c.826C>G (p.Pro276Ala) c.176C>G c.*857C>G (n.*857C>G) | |
| 14 | g.87947758G>T | CA390746433 | GALC | c.1459C>A (p.Pro487Thr) c.1390C>A (p.Pro464Thr) c.1381C>A (p.Pro461Thr) c.1291C>A (p.Pro431Thr) c.826C>A (p.Pro276Thr) c.176C>A c.*857C>A (n.*857C>A) | |
| 14 | g.87947759G>A | CA487355619 | GALC | c.1458C>T (p.Phe486=) c.1389C>T (p.Phe463=) c.1380C>T (p.Phe460=) c.1290C>T (p.Phe430=) c.825C>T (p.Phe275=) c.175C>T c.*856C>T (n.*856C>T) | gnomAD v4 |
| 14 | g.87947759G>C | CA390746434 | GALC | c.1458C>G (p.Phe486Leu) c.1389C>G (p.Phe463Leu) c.1380C>G (p.Phe460Leu) c.1290C>G (p.Phe430Leu) c.825C>G (p.Phe275Leu) c.175C>G c.*856C>G (n.*856C>G) | |
| 14 | g.87947759G>T | CA390746435 | GALC | c.1458C>A (p.Phe486Leu) c.1389C>A (p.Phe463Leu) c.1380C>A (p.Phe460Leu) c.1290C>A (p.Phe430Leu) c.825C>A (p.Phe275Leu) c.175C>A c.*856C>A (n.*856C>A) | |
| 14 | g.87947760A>C | CA390746438 | GALC | c.1457T>G (p.Phe486Cys) c.1388T>G (p.Phe463Cys) c.1379T>G (p.Phe460Cys) c.1289T>G (p.Phe430Cys) c.824T>G (p.Phe275Cys) c.174T>G c.*855T>G (n.*855T>G) | |
| 14 | g.87947760A>G | CA390746437 | GALC | c.1457T>C (p.Phe486Ser) c.1388T>C (p.Phe463Ser) c.1379T>C (p.Phe460Ser) c.1289T>C (p.Phe430Ser) c.824T>C (p.Phe275Ser) c.174T>C c.*855T>C (n.*855T>C) | |
| 14 | g.87947760A>T | CA390746436 | GALC | c.1457T>A (p.Phe486Tyr) c.1388T>A (p.Phe463Tyr) c.1379T>A (p.Phe460Tyr) c.1289T>A (p.Phe430Tyr) c.824T>A (p.Phe275Tyr) c.174T>A c.*855T>A (n.*855T>A) | |
| 14 | g.87947761A>C | CA390746439 | GALC | c.1456T>G (p.Phe486Val) c.1387T>G (p.Phe463Val) c.1378T>G (p.Phe460Val) c.1288T>G (p.Phe430Val) c.823T>G (p.Phe275Val) c.173T>G c.*854T>G (n.*854T>G) | |
| 14 | g.87947761A>G | CA390746440 | GALC | c.1456T>C (p.Phe486Leu) c.1387T>C (p.Phe463Leu) c.1378T>C (p.Phe460Leu) c.1288T>C (p.Phe430Leu) c.823T>C (p.Phe275Leu) c.173T>C c.*854T>C (n.*854T>C) | |
| 14 | g.87947761A>T | CA390746441 | GALC | c.1456T>A (p.Phe486Ile) c.1387T>A (p.Phe463Ile) c.1378T>A (p.Phe460Ile) c.1288T>A (p.Phe430Ile) c.823T>A (p.Phe275Ile) c.173T>A c.*854T>A (n.*854T>A) | |
| 14 | g.87947762G>A | CA487355620 | GALC | c.1455C>T (p.Pro485=) c.1386C>T (p.Pro462=) c.1377C>T (p.Pro459=) c.1287C>T (p.Pro429=) c.822C>T (p.Pro274=) c.172C>T c.*853C>T (n.*853C>T) | |
| 14 | g.87947762G>C | CA487355621 | GALC | c.1455C>G (p.Pro485=) c.1386C>G (p.Pro462=) c.1377C>G (p.Pro459=) c.1287C>G (p.Pro429=) c.822C>G (p.Pro274=) c.172C>G c.*853C>G (n.*853C>G) | |
| 14 | g.87947762G>T | CA487355622 | GALC | c.1455C>A (p.Pro485=) c.1386C>A (p.Pro462=) c.1377C>A (p.Pro459=) c.1287C>A (p.Pro429=) c.822C>A (p.Pro274=) c.172C>A c.*853C>A (n.*853C>A) | |
| 14 | g.87947765_87947769del | CA2580088867 | GALC | c.1451_1455del (p.Gln484LeufsTer6) c.1382_1386del (p.Gln461LeufsTer6) c.1373_1377del (p.Gln458LeufsTer6) c.1283_1287del (p.Gln428LeufsTer6) c.818_822del (p.Gln273LeufsTer6) c.168_172del c.*849_*853del (n.*849_*853del) | ClinVar |
| 14 | g.87947763G>A | CA390746442 | GALC | c.1454C>T (p.Pro485Leu) c.1385C>T (p.Pro462Leu) c.1376C>T (p.Pro459Leu) c.1286C>T (p.Pro429Leu) c.821C>T (p.Pro274Leu) c.171C>T c.*852C>T (n.*852C>T) | |
| 14 | g.87947763G>C | CA390746443 | GALC | c.1454C>G (p.Pro485Arg) c.1385C>G (p.Pro462Arg) c.1376C>G (p.Pro459Arg) c.1286C>G (p.Pro429Arg) c.821C>G (p.Pro274Arg) c.171C>G c.*852C>G (n.*852C>G) | |
| 14 | g.87947763G>T | CA390746444 | GALC | c.1454C>A (p.Pro485His) c.1385C>A (p.Pro462His) c.1376C>A (p.Pro459His) c.1286C>A (p.Pro429His) c.821C>A (p.Pro274His) c.171C>A c.*852C>A (n.*852C>A) | |
| 14 | g.87947764G>A | CA7297012 | GALC | c.1453C>T (p.Pro485Ser) c.1384C>T (p.Pro462Ser) c.1375C>T (p.Pro459Ser) c.1285C>T (p.Pro429Ser) c.820C>T (p.Pro274Ser) c.170C>T c.*851C>T (n.*851C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947764G>C | CA390746446 | GALC | c.1453C>G (p.Pro485Ala) c.1384C>G (p.Pro462Ala) c.1375C>G (p.Pro459Ala) c.1285C>G (p.Pro429Ala) c.820C>G (p.Pro274Ala) c.170C>G c.*851C>G (n.*851C>G) | |
| 14 | g.87947764G= | CA2153358775 | GALC | c.1453C= (p.Pro485=) c.1384C= (p.Pro462=) c.1375C= (p.Pro459=) c.1285C= (p.Pro429=) c.820C= (p.Pro274=) c.170C= c.*851C= (n.*851C=) | |
| 14 | g.87947764G>T | CA390746445 | GALC | c.1453C>A (p.Pro485Thr) c.1384C>A (p.Pro462Thr) c.1375C>A (p.Pro459Thr) c.1285C>A (p.Pro429Thr) c.820C>A (p.Pro274Thr) c.170C>A c.*851C>A (n.*851C>A) | |
| 14 | g.87947765C>A | CA390746447 | GALC | c.1452G>T (p.Gln484His) c.1383G>T (p.Gln461His) c.1374G>T (p.Gln458His) c.1284G>T (p.Gln428His) c.819G>T (p.Gln273His) c.169G>T c.*850G>T (n.*850G>T) | |
| 14 | g.87947765C>G | CA390746448 | GALC | c.1452G>C (p.Gln484His) c.1383G>C (p.Gln461His) c.1374G>C (p.Gln458His) c.1284G>C (p.Gln428His) c.819G>C (p.Gln273His) c.169G>C c.*850G>C (n.*850G>C) | |
| 14 | g.87947765C>T | CA487355623 | GALC | c.1452G>A (p.Gln484=) c.1383G>A (p.Gln461=) c.1374G>A (p.Gln458=) c.1284G>A (p.Gln428=) c.819G>A (p.Gln273=) c.169G>A c.*850G>A (n.*850G>A) | ClinVar gnomAD v4 |
| 14 | g.87947766T>A | CA390746449 | GALC | c.1451A>T (p.Gln484Leu) c.1382A>T (p.Gln461Leu) c.1373A>T (p.Gln458Leu) c.1283A>T (p.Gln428Leu) c.818A>T (p.Gln273Leu) c.168A>T c.*849A>T (n.*849A>T) | |
| 14 | g.87947766T>C | CA390746450 | GALC | c.1451A>G (p.Gln484Arg) c.1382A>G (p.Gln461Arg) c.1373A>G (p.Gln458Arg) c.1283A>G (p.Gln428Arg) c.818A>G (p.Gln273Arg) c.168A>G c.*849A>G (n.*849A>G) | |
| 14 | g.87947766T>G | CA390746451 | GALC | c.1451A>C (p.Gln484Pro) c.1382A>C (p.Gln461Pro) c.1373A>C (p.Gln458Pro) c.1283A>C (p.Gln428Pro) c.818A>C (p.Gln273Pro) c.168A>C c.*849A>C (n.*849A>C) | |
| 14 | g.87947767G>A | CA390746452 | GALC | c.1450C>T (p.Gln484Ter) c.1381C>T (p.Gln461Ter) c.1372C>T (p.Gln458Ter) c.1282C>T (p.Gln428Ter) c.817C>T (p.Gln273Ter) c.167C>T c.*848C>T (n.*848C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87947767G>C | CA390746453 | GALC | c.1450C>G (p.Gln484Glu) c.1381C>G (p.Gln461Glu) c.1372C>G (p.Gln458Glu) c.1282C>G (p.Gln428Glu) c.817C>G (p.Gln273Glu) c.167C>G c.*848C>G (n.*848C>G) | |
| 14 | g.87947767G= | CA2153358777 | GALC | c.1450C= (p.Gln484=) c.1381C= (p.Gln461=) c.1372C= (p.Gln458=) c.1282C= (p.Gln428=) c.817C= (p.Gln273=) c.167C= c.*848C= (n.*848C=) | |
| 14 | g.87947767G>T | CA390746454 | GALC | c.1450C>A (p.Gln484Lys) c.1381C>A (p.Gln461Lys) c.1372C>A (p.Gln458Lys) c.1282C>A (p.Gln428Lys) c.817C>A (p.Gln273Lys) c.167C>A c.*848C>A (n.*848C>A) | |
| 14 | g.87947769del | CA2580088868 | GALC | c.1450del (p.Gln484SerfsTer?) c.1381del (p.Gln461SerfsTer?) c.1372del (p.Gln458SerfsTer?) c.1282del (p.Gln428SerfsTer?) c.817del (p.Gln273SerfsTer?) c.167del c.*848del (n.*848del) | ClinVar |
| 14 | g.87947768G>A | CA487355624 | GALC | c.1449C>T (p.Ser483=) c.1380C>T (p.Ser460=) c.1371C>T (p.Ser457=) c.1281C>T (p.Ser427=) c.816C>T (p.Ser272=) c.166C>T c.*847C>T (n.*847C>T) | gnomAD v4 |
| 14 | g.87947768G>C | CA487355625 | GALC | c.1449C>G (p.Ser483=) c.1380C>G (p.Ser460=) c.1371C>G (p.Ser457=) c.1281C>G (p.Ser427=) c.816C>G (p.Ser272=) c.166C>G c.*847C>G (n.*847C>G) | |
| 14 | g.87947768G>T | CA487355626 | GALC | c.1449C>A (p.Ser483=) c.1380C>A (p.Ser460=) c.1371C>A (p.Ser457=) c.1281C>A (p.Ser427=) c.816C>A (p.Ser272=) c.166C>A c.*847C>A (n.*847C>A) | |
| 14 | g.87947769G>A | CA390746455 | GALC | c.1448C>T (p.Ser483Phe) c.1379C>T (p.Ser460Phe) c.1370C>T (p.Ser457Phe) c.1280C>T (p.Ser427Phe) c.815C>T (p.Ser272Phe) c.165C>T c.*846C>T (n.*846C>T) | |
| 14 | g.87947769G>C | CA390746456 | GALC | c.1448C>G (p.Ser483Cys) c.1379C>G (p.Ser460Cys) c.1370C>G (p.Ser457Cys) c.1280C>G (p.Ser427Cys) c.815C>G (p.Ser272Cys) c.165C>G c.*846C>G (n.*846C>G) | |
| 14 | g.87947769G>T | CA390746457 | GALC | c.1448C>A (p.Ser483Tyr) c.1379C>A (p.Ser460Tyr) c.1370C>A (p.Ser457Tyr) c.1280C>A (p.Ser427Tyr) c.815C>A (p.Ser272Tyr) c.165C>A c.*846C>A (n.*846C>A) | |
| 14 | g.87947770A>C | CA390746458 | GALC | c.1447T>G (p.Ser483Ala) c.1378T>G (p.Ser460Ala) c.1369T>G (p.Ser457Ala) c.1279T>G (p.Ser427Ala) c.814T>G (p.Ser272Ala) c.164T>G c.*845T>G (n.*845T>G) | |
| 14 | g.87947770A>G | CA390746460 | GALC | c.1447T>C (p.Ser483Pro) c.1378T>C (p.Ser460Pro) c.1369T>C (p.Ser457Pro) c.1279T>C (p.Ser427Pro) c.814T>C (p.Ser272Pro) c.164T>C c.*845T>C (n.*845T>C) | |
| 14 | g.87947770A>T | CA390746459 | GALC | c.1447T>A (p.Ser483Thr) c.1378T>A (p.Ser460Thr) c.1369T>A (p.Ser457Thr) c.1279T>A (p.Ser427Thr) c.814T>A (p.Ser272Thr) c.164T>A c.*845T>A (n.*845T>A) | |
| 14 | g.87947771T>A | CA390746461 | GALC | c.1446A>T (p.Lys482Asn) c.1377A>T (p.Lys459Asn) c.1368A>T (p.Lys456Asn) c.1278A>T (p.Lys426Asn) c.813A>T (p.Lys271Asn) c.163A>T c.*844A>T (n.*844A>T) | |
| 14 | g.87947771T>C | CA487355627 | GALC | c.1446A>G (p.Lys482=) c.1377A>G (p.Lys459=) c.1368A>G (p.Lys456=) c.1278A>G (p.Lys426=) c.813A>G (p.Lys271=) c.163A>G c.*844A>G (n.*844A>G) | gnomAD v4 |
| 14 | g.87947771T>G | CA390746462 | GALC | c.1446A>C (p.Lys482Asn) c.1377A>C (p.Lys459Asn) c.1368A>C (p.Lys456Asn) c.1278A>C (p.Lys426Asn) c.813A>C (p.Lys271Asn) c.163A>C c.*844A>C (n.*844A>C) | |
| 14 | g.87947772T>A | CA390746463 | GALC | c.1445A>T (p.Lys482Ile) c.1376A>T (p.Lys459Ile) c.1367A>T (p.Lys456Ile) c.1277A>T (p.Lys426Ile) c.812A>T (p.Lys271Ile) c.162A>T c.*843A>T (n.*843A>T) | |
| 14 | g.87947772T>C | CA390746464 | GALC | c.1445A>G (p.Lys482Arg) c.1376A>G (p.Lys459Arg) c.1367A>G (p.Lys456Arg) c.1277A>G (p.Lys426Arg) c.812A>G (p.Lys271Arg) c.162A>G c.*843A>G (n.*843A>G) | |
| 14 | g.87947772T>G | CA390746465 | GALC | c.1445A>C (p.Lys482Thr) c.1376A>C (p.Lys459Thr) c.1367A>C (p.Lys456Thr) c.1277A>C (p.Lys426Thr) c.812A>C (p.Lys271Thr) c.162A>C c.*843A>C (n.*843A>C) | |
| 14 | g.87947773T>A | CA390746467 | GALC | c.1444A>T (p.Lys482Ter) c.1375A>T (p.Lys459Ter) c.1366A>T (p.Lys456Ter) c.1276A>T (p.Lys426Ter) c.811A>T (p.Lys271Ter) c.161A>T c.*842A>T (n.*842A>T) | |
| 14 | g.87947773T>C | CA264685609 | GALC | c.1444A>G (p.Lys482Glu) c.1375A>G (p.Lys459Glu) c.1366A>G (p.Lys456Glu) c.1276A>G (p.Lys426Glu) c.811A>G (p.Lys271Glu) c.161A>G c.*842A>G (n.*842A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87947773T>G | CA390746466 | GALC | c.1444A>C (p.Lys482Gln) c.1375A>C (p.Lys459Gln) c.1366A>C (p.Lys456Gln) c.1276A>C (p.Lys426Gln) c.811A>C (p.Lys271Gln) c.161A>C c.*842A>C (n.*842A>C) | |
| 14 | g.87947773T= | CA2153358778 | GALC | c.1444A= (p.Lys482=) c.1375A= (p.Lys459=) c.1366A= (p.Lys456=) c.1276A= (p.Lys426=) c.811A= (p.Lys271=) c.161A= c.*842A= (n.*842A=) | |
| 14 | g.87947774T>A | CA487355630 | GALC | c.1443A>T (p.Pro481=) c.1374A>T (p.Pro458=) c.1365A>T (p.Pro455=) c.1275A>T (p.Pro425=) c.810A>T (p.Pro270=) c.160A>T c.*841A>T (n.*841A>T) | |
| 14 | g.87947774T>C | CA487355628 | GALC | c.1443A>G (p.Pro481=) c.1374A>G (p.Pro458=) c.1365A>G (p.Pro455=) c.1275A>G (p.Pro425=) c.810A>G (p.Pro270=) c.160A>G c.*841A>G (n.*841A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947774T>G | CA487355629 | GALC | c.1443A>C (p.Pro481=) c.1374A>C (p.Pro458=) c.1365A>C (p.Pro455=) c.1275A>C (p.Pro425=) c.810A>C (p.Pro270=) c.160A>C c.*841A>C (n.*841A>C) | |
| 14 | g.87947774T= | CA2153358779 | GALC | c.1443A= (p.Pro481=) c.1374A= (p.Pro458=) c.1365A= (p.Pro455=) c.1275A= (p.Pro425=) c.810A= (p.Pro270=) c.160A= c.*841A= (n.*841A=) | |
| 14 | g.87947775G>A | CA7297013 | GALC | c.1442C>T (p.Pro481Leu) c.1373C>T (p.Pro458Leu) c.1364C>T (p.Pro455Leu) c.1274C>T (p.Pro425Leu) c.809C>T (p.Pro270Leu) c.159C>T c.*840C>T (n.*840C>T) | dbSNP ExAC |
| 14 | g.87947775G>C | CA390746468 | GALC | c.1442C>G (p.Pro481Arg) c.1373C>G (p.Pro458Arg) c.1364C>G (p.Pro455Arg) c.1274C>G (p.Pro425Arg) c.809C>G (p.Pro270Arg) c.159C>G c.*840C>G (n.*840C>G) | |
| 14 | g.87947775G= | CA2153358780 | GALC | c.1442C= (p.Pro481=) c.1373C= (p.Pro458=) c.1364C= (p.Pro455=) c.1274C= (p.Pro425=) c.809C= (p.Pro270=) c.159C= c.*840C= (n.*840C=) | |
| 14 | g.87947775G>T | CA390746469 | GALC | c.1442C>A (p.Pro481Gln) c.1373C>A (p.Pro458Gln) c.1364C>A (p.Pro455Gln) c.1274C>A (p.Pro425Gln) c.809C>A (p.Pro270Gln) c.159C>A c.*840C>A (n.*840C>A) | |
| 14 | g.87947776G>A | CA7297014 | GALC | c.1441C>T (p.Pro481Ser) c.1372C>T (p.Pro458Ser) c.1363C>T (p.Pro455Ser) c.1273C>T (p.Pro425Ser) c.808C>T (p.Pro270Ser) c.158C>T c.*839C>T (n.*839C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947776G>C | CA390746470 | GALC | c.1441C>G (p.Pro481Ala) c.1372C>G (p.Pro458Ala) c.1363C>G (p.Pro455Ala) c.1273C>G (p.Pro425Ala) c.808C>G (p.Pro270Ala) c.158C>G c.*839C>G (n.*839C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87947776G= | CA2153358788 | GALC | c.1441C= (p.Pro481=) c.1372C= (p.Pro458=) c.1363C= (p.Pro455=) c.1273C= (p.Pro425=) c.808C= (p.Pro270=) c.158C= c.*839C= (n.*839C=) | |
| 14 | g.87947776G>T | CA390746471 | GALC | c.1441C>A (p.Pro481Thr) c.1372C>A (p.Pro458Thr) c.1363C>A (p.Pro455Thr) c.1273C>A (p.Pro425Thr) c.808C>A (p.Pro270Thr) c.158C>A c.*839C>A (n.*839C>A) | |
| 14 | g.87947777A>C | CA487355631 | GALC | c.1440T>G (p.Pro480=) c.1371T>G (p.Pro457=) c.1362T>G (p.Pro454=) c.1272T>G (p.Pro424=) c.807T>G (p.Pro269=) c.157T>G c.*838T>G (n.*838T>G) | |
| 14 | g.87947777A>G | CA487355632 | GALC | c.1440T>C (p.Pro480=) c.1371T>C (p.Pro457=) c.1362T>C (p.Pro454=) c.1272T>C (p.Pro424=) c.807T>C (p.Pro269=) c.157T>C c.*838T>C (n.*838T>C) | |
| 14 | g.87947777A>T | CA487355633 | GALC | c.1440T>A (p.Pro480=) c.1371T>A (p.Pro457=) c.1362T>A (p.Pro454=) c.1272T>A (p.Pro424=) c.807T>A (p.Pro269=) c.157T>A c.*838T>A (n.*838T>A) | |
| 14 | g.87947778G>A | CA390746474 | GALC | c.1439C>T (p.Pro480Leu) c.1370C>T (p.Pro457Leu) c.1361C>T (p.Pro454Leu) c.1271C>T (p.Pro424Leu) c.806C>T (p.Pro269Leu) c.156C>T c.*837C>T (n.*837C>T) | gnomAD v4 |
| 14 | g.87947778G>C | CA390746472 | GALC | c.1439C>G (p.Pro480Arg) c.1370C>G (p.Pro457Arg) c.1361C>G (p.Pro454Arg) c.1271C>G (p.Pro424Arg) c.806C>G (p.Pro269Arg) c.156C>G c.*837C>G (n.*837C>G) | |
| 14 | g.87947778G>T | CA390746473 | GALC | c.1439C>A (p.Pro480His) c.1370C>A (p.Pro457His) c.1361C>A (p.Pro454His) c.1271C>A (p.Pro424His) c.806C>A (p.Pro269His) c.156C>A c.*837C>A (n.*837C>A) | |
| 14 | g.87947779G>A | CA390746475 | GALC | c.1438C>T (p.Pro480Ser) c.1369C>T (p.Pro457Ser) c.1360C>T (p.Pro454Ser) c.1270C>T (p.Pro424Ser) c.805C>T (p.Pro269Ser) c.155C>T c.*836C>T (n.*836C>T) | |
| 14 | g.87947779G>C | CA390746476 | GALC | c.1438C>G (p.Pro480Ala) c.1369C>G (p.Pro457Ala) c.1360C>G (p.Pro454Ala) c.1270C>G (p.Pro424Ala) c.805C>G (p.Pro269Ala) c.155C>G c.*836C>G (n.*836C>G) | |
| 14 | g.87947779G>T | CA390746477 | GALC | c.1438C>A (p.Pro480Thr) c.1369C>A (p.Pro457Thr) c.1360C>A (p.Pro454Thr) c.1270C>A (p.Pro424Thr) c.805C>A (p.Pro269Thr) c.155C>A c.*836C>A (n.*836C>A) | |
| 14 | g.87947780A= | CA2153358793 | GALC | c.1437T= (p.Leu479=) c.1368T= (p.Leu456=) c.1359T= (p.Leu453=) c.1269T= (p.Leu423=) c.804T= (p.Leu268=) c.154T= c.*835T= (n.*835T=) | |
| 14 | g.87947780A>C | CA487355634 | GALC | c.1437T>G (p.Leu479=) c.1368T>G (p.Leu456=) c.1359T>G (p.Leu453=) c.1269T>G (p.Leu423=) c.804T>G (p.Leu268=) c.154T>G c.*835T>G (n.*835T>G) | ClinVar |
| 14 | g.87947780A>G | CA487355635 | GALC | c.1437T>C (p.Leu479=) c.1368T>C (p.Leu456=) c.1359T>C (p.Leu453=) c.1269T>C (p.Leu423=) c.804T>C (p.Leu268=) c.154T>C c.*835T>C (n.*835T>C) | dbSNP |
| 14 | g.87947780A>T | CA487355636 | GALC | c.1437T>A (p.Leu479=) c.1368T>A (p.Leu456=) c.1359T>A (p.Leu453=) c.1269T>A (p.Leu423=) c.804T>A (p.Leu268=) c.154T>A c.*835T>A (n.*835T>A) | |
| 14 | g.87947781dup | CA2580088870 | GALC | c.1437dup (p.Pro480SerfsTer12) c.1368dup (p.Pro457SerfsTer12) c.1359dup (p.Pro454SerfsTer12) c.1269dup (p.Pro424SerfsTer12) c.804dup (p.Pro269SerfsTer12) c.154dup c.*835dup (n.*835dup) | ClinVar |
| 14 | g.87947781A= | CA2153358795 | GALC | c.1436T= (p.Leu479=) c.1367T= (p.Leu456=) c.1358T= (p.Leu453=) c.1268T= (p.Leu423=) c.803T= (p.Leu268=) c.153T= c.*834T= (n.*834T=) | |
| 14 | g.87947781A>C | CA390746478 | GALC | c.1436T>G (p.Leu479Arg) c.1367T>G (p.Leu456Arg) c.1358T>G (p.Leu453Arg) c.1268T>G (p.Leu423Arg) c.803T>G (p.Leu268Arg) c.153T>G c.*834T>G (n.*834T>G) | |
| 14 | g.87947781A>G | CA390746479 | GALC | c.1436T>C (p.Leu479Pro) c.1367T>C (p.Leu456Pro) c.1358T>C (p.Leu453Pro) c.1268T>C (p.Leu423Pro) c.803T>C (p.Leu268Pro) c.153T>C c.*834T>C (n.*834T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87947781A>T | CA390746480 | GALC | c.1436T>A (p.Leu479His) c.1367T>A (p.Leu456His) c.1358T>A (p.Leu453His) c.1268T>A (p.Leu423His) c.803T>A (p.Leu268His) c.153T>A c.*834T>A (n.*834T>A) | |
| 14 | g.87947782G>A | CA390746481 | GALC | c.1435C>T (p.Leu479Phe) c.1366C>T (p.Leu456Phe) c.1357C>T (p.Leu453Phe) c.1267C>T (p.Leu423Phe) c.802C>T (p.Leu268Phe) c.152C>T c.*833C>T (n.*833C>T) | |
| 14 | g.87947782G>C | CA390746482 | GALC | c.1435C>G (p.Leu479Val) c.1366C>G (p.Leu456Val) c.1357C>G (p.Leu453Val) c.1267C>G (p.Leu423Val) c.802C>G (p.Leu268Val) c.152C>G c.*833C>G (n.*833C>G) | |
| 14 | g.87947782G>T | CA390746483 | GALC | c.1435C>A (p.Leu479Ile) c.1366C>A (p.Leu456Ile) c.1357C>A (p.Leu453Ile) c.1267C>A (p.Leu423Ile) c.802C>A (p.Leu268Ile) c.152C>A c.*833C>A (n.*833C>A) | |
| 14 | g.87947783C>A | CA487355637 | GALC | c.1434G>T (p.Pro478=) c.1365G>T (p.Pro455=) c.1356G>T (p.Pro452=) c.1266G>T (p.Pro422=) c.801G>T (p.Pro267=) c.151G>T c.*832G>T (n.*832G>T) | |
| 14 | g.87947783C= | CA2153358798 | GALC | c.1434G= (p.Pro478=) c.1365G= (p.Pro455=) c.1356G= (p.Pro452=) c.1266G= (p.Pro422=) c.801G= (p.Pro267=) c.151G= c.*832G= (n.*832G=) | |
| 14 | g.87947783C>G | CA487355638 | GALC | c.1434G>C (p.Pro478=) c.1365G>C (p.Pro455=) c.1356G>C (p.Pro452=) c.1266G>C (p.Pro422=) c.801G>C (p.Pro267=) c.151G>C c.*832G>C (n.*832G>C) | |
| 14 | g.87947783C>T | CA7297015 | GALC | c.1434G>A (p.Pro478=) c.1365G>A (p.Pro455=) c.1356G>A (p.Pro452=) c.1266G>A (p.Pro422=) c.801G>A (p.Pro267=) c.151G>A c.*832G>A (n.*832G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947784G>A | CA7297016 | GALC | c.1433C>T (p.Pro478Leu) c.1364C>T (p.Pro455Leu) c.1355C>T (p.Pro452Leu) c.1265C>T (p.Pro422Leu) c.800C>T (p.Pro267Leu) c.150C>T c.*831C>T (n.*831C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.87947784G>C | CA390746484 | GALC | c.1433C>G (p.Pro478Arg) c.1364C>G (p.Pro455Arg) c.1355C>G (p.Pro452Arg) c.1265C>G (p.Pro422Arg) c.800C>G (p.Pro267Arg) c.150C>G c.*831C>G (n.*831C>G) | gnomAD v4 |
| 14 | g.87947784G= | CA2153358802 | GALC | c.1433C= (p.Pro478=) c.1364C= (p.Pro455=) c.1355C= (p.Pro452=) c.1265C= (p.Pro422=) c.800C= (p.Pro267=) c.150C= c.*831C= (n.*831C=) | |
| 14 | g.87947784G>T | CA390746485 | GALC | c.1433C>A (p.Pro478Gln) c.1364C>A (p.Pro455Gln) c.1355C>A (p.Pro452Gln) c.1265C>A (p.Pro422Gln) c.800C>A (p.Pro267Gln) c.150C>A c.*831C>A (n.*831C>A) | |
| 14 | g.87947786del | CA2573150293 | GALC | c.1433del (p.Pro478ArgfsTer?) c.1364del (p.Pro455ArgfsTer?) c.1355del (p.Pro452ArgfsTer?) c.1265del (p.Pro422ArgfsTer?) c.800del (p.Pro267ArgfsTer?) c.150del c.*831del (n.*831del) | ClinVar dbSNP |
| 14 | g.87947785G>A | CA390746486 | GALC | c.1432C>T (p.Pro478Ser) c.1363C>T (p.Pro455Ser) c.1354C>T (p.Pro452Ser) c.1264C>T (p.Pro422Ser) c.799C>T (p.Pro267Ser) c.149C>T c.*830C>T (n.*830C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87947785G>C | CA390746488 | GALC | c.1432C>G (p.Pro478Ala) c.1363C>G (p.Pro455Ala) c.1354C>G (p.Pro452Ala) c.1264C>G (p.Pro422Ala) c.799C>G (p.Pro267Ala) c.149C>G c.*830C>G (n.*830C>G) | |
| 14 | g.87947785G= | CA2153358806 | GALC | c.1432C= (p.Pro478=) c.1363C= (p.Pro455=) c.1354C= (p.Pro452=) c.1264C= (p.Pro422=) c.799C= (p.Pro267=) c.149C= c.*830C= (n.*830C=) | |
| 14 | g.87947785G>T | CA390746487 | GALC | c.1432C>A (p.Pro478Thr) c.1363C>A (p.Pro455Thr) c.1354C>A (p.Pro452Thr) c.1264C>A (p.Pro422Thr) c.799C>A (p.Pro267Thr) c.149C>A c.*830C>A (n.*830C>A) | |
| 14 | g.87947788_87947809del | CA2499222756 | GALC | c.1411_1432del (p.Thr471ArgfsTer?) c.1342_1363del (p.Thr448ArgfsTer?) c.1333_1354del (p.Thr445ArgfsTer?) c.1243_1264del (p.Thr415ArgfsTer?) c.778_799del (p.Thr260ArgfsTer?) c.128_149del c.*809_*830del (n.*809_*830del) | ClinVar dbSNP |
| 14 | g.87947786G>A | CA487355639 | GALC | c.1431C>T (p.Tyr477=) c.1362C>T (p.Tyr454=) c.1353C>T (p.Tyr451=) c.1263C>T (p.Tyr421=) c.798C>T (p.Tyr266=) c.148C>T c.*829C>T (n.*829C>T) | |
| 14 | g.87947786G>C | CA390746489 | GALC | c.1431C>G (p.Tyr477Ter) c.1362C>G (p.Tyr454Ter) c.1353C>G (p.Tyr451Ter) c.1263C>G (p.Tyr421Ter) c.798C>G (p.Tyr266Ter) c.148C>G c.*829C>G (n.*829C>G) | |
| 14 | g.87947786G>T | CA390746490 | GALC | c.1431C>A (p.Tyr477Ter) c.1362C>A (p.Tyr454Ter) c.1353C>A (p.Tyr451Ter) c.1263C>A (p.Tyr421Ter) c.798C>A (p.Tyr266Ter) c.148C>A c.*829C>A (n.*829C>A) | |
| 14 | g.87947787T>A | CA390746491 | GALC | c.1430A>T (p.Tyr477Phe) c.1361A>T (p.Tyr454Phe) c.1352A>T (p.Tyr451Phe) c.1262A>T (p.Tyr421Phe) c.797A>T (p.Tyr266Phe) c.147A>T c.*828A>T (n.*828A>T) | |
| 14 | g.87947787T>C | CA390746492 | GALC | c.1430A>G (p.Tyr477Cys) c.1361A>G (p.Tyr454Cys) c.1352A>G (p.Tyr451Cys) c.1262A>G (p.Tyr421Cys) c.797A>G (p.Tyr266Cys) c.147A>G c.*828A>G (n.*828A>G) | |
| 14 | g.87947787T>G | CA390746493 | GALC | c.1430A>C (p.Tyr477Ser) c.1361A>C (p.Tyr454Ser) c.1352A>C (p.Tyr451Ser) c.1262A>C (p.Tyr421Ser) c.797A>C (p.Tyr266Ser) c.147A>C c.*828A>C (n.*828A>C) | |
| 14 | g.87947788A>C | CA390746494 | GALC | c.1429T>G (p.Tyr477Asp) c.1360T>G (p.Tyr454Asp) c.1351T>G (p.Tyr451Asp) c.1261T>G (p.Tyr421Asp) c.796T>G (p.Tyr266Asp) c.146T>G c.*827T>G (n.*827T>G) | |
| 14 | g.87947788A>G | CA390746495 | GALC | c.1429T>C (p.Tyr477His) c.1360T>C (p.Tyr454His) c.1351T>C (p.Tyr451His) c.1261T>C (p.Tyr421His) c.796T>C (p.Tyr266His) c.146T>C c.*827T>C (n.*827T>C) | |
| 14 | g.87947788A>T | CA390746496 | GALC | c.1429T>A (p.Tyr477Asn) c.1360T>A (p.Tyr454Asn) c.1351T>A (p.Tyr451Asn) c.1261T>A (p.Tyr421Asn) c.796T>A (p.Tyr266Asn) c.146T>A c.*827T>A (n.*827T>A) | |
| 14 | g.87947789G>A | CA487355640 | GALC | c.1428C>T (p.Ser476=) c.1359C>T (p.Ser453=) c.1350C>T (p.Ser450=) c.1260C>T (p.Ser420=) c.795C>T (p.Ser265=) c.145C>T c.*826C>T (n.*826C>T) | |
| 14 | g.87947789G>C | CA390746497 | GALC | c.1428C>G (p.Ser476Arg) c.1359C>G (p.Ser453Arg) c.1350C>G (p.Ser450Arg) c.1260C>G (p.Ser420Arg) c.795C>G (p.Ser265Arg) c.145C>G c.*826C>G (n.*826C>G) | |
| 14 | g.87947789G>T | CA390746498 | GALC | c.1428C>A (p.Ser476Arg) c.1359C>A (p.Ser453Arg) c.1350C>A (p.Ser450Arg) c.1260C>A (p.Ser420Arg) c.795C>A (p.Ser265Arg) c.145C>A c.*826C>A (n.*826C>A) | |
| 14 | g.87947790C>A | CA390746499 | GALC | c.1427G>T (p.Ser476Ile) c.1358G>T (p.Ser453Ile) c.1349G>T (p.Ser450Ile) c.1259G>T (p.Ser420Ile) c.794G>T (p.Ser265Ile) c.144G>T c.*825G>T (n.*825G>T) | |
| 14 | g.87947790C= | CA2153358810 | GALC | c.1427G= (p.Ser476=) c.1358G= (p.Ser453=) c.1349G= (p.Ser450=) c.1259G= (p.Ser420=) c.794G= (p.Ser265=) c.144G= c.*825G= (n.*825G=) | |
| 14 | g.87947790C>G | CA390746500 | GALC | c.1427G>C (p.Ser476Thr) c.1358G>C (p.Ser453Thr) c.1349G>C (p.Ser450Thr) c.1259G>C (p.Ser420Thr) c.794G>C (p.Ser265Thr) c.144G>C c.*825G>C (n.*825G>C) | |
| 14 | g.87947790C>T | CA390746501 | GALC | c.1427G>A (p.Ser476Asn) c.1358G>A (p.Ser453Asn) c.1349G>A (p.Ser450Asn) c.1259G>A (p.Ser420Asn) c.794G>A (p.Ser265Asn) c.144G>A c.*825G>A (n.*825G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947791T>A | CA390746504 | GALC | c.1426A>T (p.Ser476Cys) c.1357A>T (p.Ser453Cys) c.1348A>T (p.Ser450Cys) c.1258A>T (p.Ser420Cys) c.793A>T (p.Ser265Cys) c.143A>T c.*824A>T (n.*824A>T) | |
| 14 | g.87947791T>C | CA390746502 | GALC | c.1426A>G (p.Ser476Gly) c.1357A>G (p.Ser453Gly) c.1348A>G (p.Ser450Gly) c.1258A>G (p.Ser420Gly) c.793A>G (p.Ser265Gly) c.143A>G c.*824A>G (n.*824A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87947791T>G | CA390746503 | GALC | c.1426A>C (p.Ser476Arg) c.1357A>C (p.Ser453Arg) c.1348A>C (p.Ser450Arg) c.1258A>C (p.Ser420Arg) c.793A>C (p.Ser265Arg) c.143A>C c.*824A>C (n.*824A>C) | |
| 14 | g.87947791T= | CA2153358818 | GALC | c.1426A= (p.Ser476=) c.1357A= (p.Ser453=) c.1348A= (p.Ser450=) c.1258A= (p.Ser420=) c.793A= (p.Ser265=) c.143A= c.*824A= (n.*824A=) | |
| 14 | g.87947791dup | CA16041693 | GALC | c.1426dup (p.Ser476LysfsTer16) c.1357dup (p.Ser453LysfsTer16) c.1348dup (p.Ser450LysfsTer16) c.1258dup (p.Ser420LysfsTer16) c.793dup (p.Ser265LysfsTer16) c.143dup c.*824dup (n.*824dup) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87947792G>A | CA487355641 | GALC | c.1425C>T (p.Gly475=) c.1356C>T (p.Gly452=) c.1347C>T (p.Gly449=) c.1257C>T (p.Gly419=) c.792C>T (p.Gly264=) c.142C>T c.*823C>T (n.*823C>T) | |
| 14 | g.87947792G>C | CA487355642 | GALC | c.1425C>G (p.Gly475=) c.1356C>G (p.Gly452=) c.1347C>G (p.Gly449=) c.1257C>G (p.Gly419=) c.792C>G (p.Gly264=) c.142C>G c.*823C>G (n.*823C>G) | gnomAD v4 |
| 14 | g.87947792G>T | CA487355643 | GALC | c.1425C>A (p.Gly475=) c.1356C>A (p.Gly452=) c.1347C>A (p.Gly449=) c.1257C>A (p.Gly419=) c.792C>A (p.Gly264=) c.142C>A c.*823C>A (n.*823C>A) | |
| 14 | g.87947793C>A | CA390746505 | GALC | c.1424G>T (p.Gly475Val) c.1355G>T (p.Gly452Val) c.1346G>T (p.Gly449Val) c.1256G>T (p.Gly419Val) c.791G>T (p.Gly264Val) c.141G>T c.*822G>T (n.*822G>T) | |
| 14 | g.87947793C>G | CA390746506 | GALC | c.1424G>C (p.Gly475Ala) c.1355G>C (p.Gly452Ala) c.1346G>C (p.Gly449Ala) c.1256G>C (p.Gly419Ala) c.791G>C (p.Gly264Ala) c.141G>C c.*822G>C (n.*822G>C) | |
| 14 | g.87947793C>T | CA390746507 | GALC | c.1424G>A (p.Gly475Asp) c.1355G>A (p.Gly452Asp) c.1346G>A (p.Gly449Asp) c.1256G>A (p.Gly419Asp) c.791G>A (p.Gly264Asp) c.141G>A c.*822G>A (n.*822G>A) | gnomAD v4 COSMIC COSMIC |
| 14 | g.87947794C>A | CA390746508 | GALC | c.1423G>T (p.Gly475Cys) c.1354G>T (p.Gly452Cys) c.1345G>T (p.Gly449Cys) c.1255G>T (p.Gly419Cys) c.790G>T (p.Gly264Cys) c.140G>T c.*821G>T (n.*821G>T) | |
| 14 | g.87947794C= | CA2153358821 | GALC | c.1423G= (p.Gly475=) c.1354G= (p.Gly452=) c.1345G= (p.Gly449=) c.1255G= (p.Gly419=) c.790G= (p.Gly264=) c.140G= c.*821G= (n.*821G=) | |
| 14 | g.87947794C>G | CA390746509 | GALC | c.1423G>C (p.Gly475Arg) c.1354G>C (p.Gly452Arg) c.1345G>C (p.Gly449Arg) c.1255G>C (p.Gly419Arg) c.790G>C (p.Gly264Arg) c.140G>C c.*821G>C (n.*821G>C) | |
| 14 | g.87947794C>T | CA390746510 | GALC | c.1423G>A (p.Gly475Ser) c.1354G>A (p.Gly452Ser) c.1345G>A (p.Gly449Ser) c.1255G>A (p.Gly419Ser) c.790G>A (p.Gly264Ser) c.140G>A c.*821G>A (n.*821G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87947795T>A | CA390746511 | GALC | c.1422A>T (p.Lys474Asn) c.1353A>T (p.Lys451Asn) c.1344A>T (p.Lys448Asn) c.1254A>T (p.Lys418Asn) c.789A>T (p.Lys263Asn) c.139A>T c.*820A>T (n.*820A>T) | |
| 14 | g.87947795T>C | CA487355644 | GALC | c.1422A>G (p.Lys474=) c.1353A>G (p.Lys451=) c.1344A>G (p.Lys448=) c.1254A>G (p.Lys418=) c.789A>G (p.Lys263=) c.139A>G c.*820A>G (n.*820A>G) | |
| 14 | g.87947795T>G | CA390746512 | GALC | c.1422A>C (p.Lys474Asn) c.1353A>C (p.Lys451Asn) c.1344A>C (p.Lys448Asn) c.1254A>C (p.Lys418Asn) c.789A>C (p.Lys263Asn) c.139A>C c.*820A>C (n.*820A>C) | |
| 14 | g.87947796T>A | CA390746513 | GALC | c.1421A>T (p.Lys474Ile) c.1352A>T (p.Lys451Ile) c.1343A>T (p.Lys448Ile) c.1253A>T (p.Lys418Ile) c.788A>T (p.Lys263Ile) c.138A>T c.*819A>T (n.*819A>T) | |
| 14 | g.87947796T>C | CA390746514 | GALC | c.1421A>G (p.Lys474Arg) c.1352A>G (p.Lys451Arg) c.1343A>G (p.Lys448Arg) c.1253A>G (p.Lys418Arg) c.788A>G (p.Lys263Arg) c.138A>G c.*819A>G (n.*819A>G) | |
| 14 | g.87947796T>G | CA390746515 | GALC | c.1421A>C (p.Lys474Thr) c.1352A>C (p.Lys451Thr) c.1343A>C (p.Lys448Thr) c.1253A>C (p.Lys418Thr) c.788A>C (p.Lys263Thr) c.138A>C c.*819A>C (n.*819A>C) | |
| 14 | g.87947797T>A | CA390746518 | GALC | c.1420A>T (p.Lys474Ter) c.1351A>T (p.Lys451Ter) c.1342A>T (p.Lys448Ter) c.1252A>T (p.Lys418Ter) c.787A>T (p.Lys263Ter) c.137A>T c.*818A>T (n.*818A>T) | ClinVar |
| 14 | g.87947797T>C | CA390746516 | GALC | c.1420A>G (p.Lys474Glu) c.1351A>G (p.Lys451Glu) c.1342A>G (p.Lys448Glu) c.1252A>G (p.Lys418Glu) c.787A>G (p.Lys263Glu) c.137A>G c.*818A>G (n.*818A>G) | |
| 14 | g.87947797T>G | CA390746517 | GALC | c.1420A>C (p.Lys474Gln) c.1351A>C (p.Lys451Gln) c.1342A>C (p.Lys448Gln) c.1252A>C (p.Lys418Gln) c.787A>C (p.Lys263Gln) c.137A>C c.*818A>C (n.*818A>C) | |
| 14 | g.87947798G>A | CA487355645 | GALC | c.1419C>T (p.Arg473=) c.1350C>T (p.Arg450=) c.1341C>T (p.Arg447=) c.1251C>T (p.Arg417=) c.786C>T (p.Arg262=) c.136C>T c.*817C>T (n.*817C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87947798G>C | CA487355646 | GALC | c.1419C>G (p.Arg473=) c.1350C>G (p.Arg450=) c.1341C>G (p.Arg447=) c.1251C>G (p.Arg417=) c.786C>G (p.Arg262=) c.136C>G c.*817C>G (n.*817C>G) | |
| 14 | g.87947798G= | CA2153358823 | GALC | c.1419C= (p.Arg473=) c.1350C= (p.Arg450=) c.1341C= (p.Arg447=) c.1251C= (p.Arg417=) c.786C= (p.Arg262=) c.136C= c.*817C= (n.*817C=) | |
| 14 | g.87947798G>T | CA487355647 | GALC | c.1419C>A (p.Arg473=) c.1350C>A (p.Arg450=) c.1341C>A (p.Arg447=) c.1251C>A (p.Arg417=) c.786C>A (p.Arg262=) c.136C>A c.*817C>A (n.*817C>A) | gnomAD v4 |
| 14 | g.87947799C>A | CA390746519 | GALC | c.1418G>T (p.Arg473Leu) c.1349G>T (p.Arg450Leu) c.1340G>T (p.Arg447Leu) c.1250G>T (p.Arg417Leu) c.785G>T (p.Arg262Leu) c.135G>T c.*816G>T (n.*816G>T) | |
| 14 | g.87947799C= | CA2153358831 | GALC | c.1418G= (p.Arg473=) c.1349G= (p.Arg450=) c.1340G= (p.Arg447=) c.1250G= (p.Arg417=) c.785G= (p.Arg262=) c.135G= c.*816G= (n.*816G=) | |
| 14 | g.87947799C>G | CA390746520 | GALC | c.1418G>C (p.Arg473Pro) c.1349G>C (p.Arg450Pro) c.1340G>C (p.Arg447Pro) c.1250G>C (p.Arg417Pro) c.785G>C (p.Arg262Pro) c.135G>C c.*816G>C (n.*816G>C) | |
| 14 | g.87947799C>T | CA7297017 | GALC | c.1418G>A (p.Arg473His) c.1349G>A (p.Arg450His) c.1340G>A (p.Arg447His) c.1250G>A (p.Arg417His) c.785G>A (p.Arg262His) c.135G>A c.*816G>A (n.*816G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.87947800G>A | CA7297018 | GALC | c.1417C>T (p.Arg473Cys) c.1348C>T (p.Arg450Cys) c.1339C>T (p.Arg447Cys) c.1249C>T (p.Arg417Cys) c.784C>T (p.Arg262Cys) c.134C>T c.*815C>T (n.*815C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947800G>C | CA390746522 | GALC | c.1417C>G (p.Arg473Gly) c.1348C>G (p.Arg450Gly) c.1339C>G (p.Arg447Gly) c.1249C>G (p.Arg417Gly) c.784C>G (p.Arg262Gly) c.134C>G c.*815C>G (n.*815C>G) | |
| 14 | g.87947800G= | CA2153358838 | GALC | c.1417C= (p.Arg473=) c.1348C= (p.Arg450=) c.1339C= (p.Arg447=) c.1249C= (p.Arg417=) c.784C= (p.Arg262=) c.134C= c.*815C= (n.*815C=) | |
| 14 | g.87947800G>T | CA390746521 | GALC | c.1417C>A (p.Arg473Ser) c.1348C>A (p.Arg450Ser) c.1339C>A (p.Arg447Ser) c.1249C>A (p.Arg417Ser) c.784C>A (p.Arg262Ser) c.134C>A c.*815C>A (n.*815C>A) | gnomAD v4 |
| 14 | g.87947801A>C | CA487355649 | GALC | c.1416T>G (p.Gly472=) c.1347T>G (p.Gly449=) c.1338T>G (p.Gly446=) c.1248T>G (p.Gly416=) c.783T>G (p.Gly261=) c.133T>G c.*814T>G (n.*814T>G) | |
| 14 | g.87947801A>G | CA487355648 | GALC | c.1416T>C (p.Gly472=) c.1347T>C (p.Gly449=) c.1338T>C (p.Gly446=) c.1248T>C (p.Gly416=) c.783T>C (p.Gly261=) c.133T>C c.*814T>C (n.*814T>C) | |
| 14 | g.87947801A>T | CA487355650 | GALC | c.1416T>A (p.Gly472=) c.1347T>A (p.Gly449=) c.1338T>A (p.Gly446=) c.1248T>A (p.Gly416=) c.783T>A (p.Gly261=) c.133T>A c.*814T>A (n.*814T>A) | |
| 14 | g.87947802C>A | CA390746523 | GALC | c.1415G>T (p.Gly472Val) c.1346G>T (p.Gly449Val) c.1337G>T (p.Gly446Val) c.1247G>T (p.Gly416Val) c.782G>T (p.Gly261Val) c.132G>T c.*813G>T (n.*813G>T) | |
| 14 | g.87947802C>G | CA390746525 | GALC | c.1415G>C (p.Gly472Ala) c.1346G>C (p.Gly449Ala) c.1337G>C (p.Gly446Ala) c.1247G>C (p.Gly416Ala) c.782G>C (p.Gly261Ala) c.132G>C c.*813G>C (n.*813G>C) | gnomAD v4 |
| 14 | g.87947802C>T | CA390746524 | GALC | c.1415G>A (p.Gly472Asp) c.1346G>A (p.Gly449Asp) c.1337G>A (p.Gly446Asp) c.1247G>A (p.Gly416Asp) c.782G>A (p.Gly261Asp) c.132G>A c.*813G>A (n.*813G>A) | |
| 14 | g.87947803C>A | CA390746526 | GALC | c.1414G>T (p.Gly472Cys) c.1345G>T (p.Gly449Cys) c.1336G>T (p.Gly446Cys) c.1246G>T (p.Gly416Cys) c.781G>T (p.Gly261Cys) c.131G>T c.*812G>T (n.*812G>T) | |
| 14 | g.87947803C>G | CA390746527 | GALC | c.1414G>C (p.Gly472Arg) c.1345G>C (p.Gly449Arg) c.1336G>C (p.Gly446Arg) c.1246G>C (p.Gly416Arg) c.781G>C (p.Gly261Arg) c.131G>C c.*812G>C (n.*812G>C) | |
| 14 | g.87947803C>T | CA390746528 | GALC | c.1414G>A (p.Gly472Ser) c.1345G>A (p.Gly449Ser) c.1336G>A (p.Gly446Ser) c.1246G>A (p.Gly416Ser) c.781G>A (p.Gly261Ser) c.131G>A c.*812G>A (n.*812G>A) | |
| 14 | g.87947804A= | CA2153358841 | GALC | c.1413T= (p.Thr471=) c.1344T= (p.Thr448=) c.1335T= (p.Thr445=) c.1245T= (p.Thr415=) c.780T= (p.Thr260=) c.130T= c.*811T= (n.*811T=) | |
| 14 | g.87947804A>C | CA487355651 | GALC | c.1413T>G (p.Thr471=) c.1344T>G (p.Thr448=) c.1335T>G (p.Thr445=) c.1245T>G (p.Thr415=) c.780T>G (p.Thr260=) c.130T>G c.*811T>G (n.*811T>G) | |
| 14 | g.87947804A>G | CA264685660 | GALC | c.1413T>C (p.Thr471=) c.1344T>C (p.Thr448=) c.1335T>C (p.Thr445=) c.1245T>C (p.Thr415=) c.780T>C (p.Thr260=) c.130T>C c.*811T>C (n.*811T>C) | dbSNP |
| 14 | g.87947804A>T | CA487355652 | GALC | c.1413T>A (p.Thr471=) c.1344T>A (p.Thr448=) c.1335T>A (p.Thr445=) c.1245T>A (p.Thr415=) c.780T>A (p.Thr260=) c.130T>A c.*811T>A (n.*811T>A) | |
| 14 | g.87947805G>A | CA7297019 | GALC | c.1412C>T (p.Thr471Ile) c.1343C>T (p.Thr448Ile) c.1334C>T (p.Thr445Ile) c.1244C>T (p.Thr415Ile) c.779C>T (p.Thr260Ile) c.129C>T c.*810C>T (n.*810C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947805G>C | CA390746529 | GALC | c.1412C>G (p.Thr471Ser) c.1343C>G (p.Thr448Ser) c.1334C>G (p.Thr445Ser) c.1244C>G (p.Thr415Ser) c.779C>G (p.Thr260Ser) c.129C>G c.*810C>G (n.*810C>G) | |
| 14 | g.87947805G= | CA2153358843 | GALC | c.1412C= (p.Thr471=) c.1343C= (p.Thr448=) c.1334C= (p.Thr445=) c.1244C= (p.Thr415=) c.779C= (p.Thr260=) c.129C= c.*810C= (n.*810C=) | |
| 14 | g.87947805G>T | CA390746530 | GALC | c.1412C>A (p.Thr471Asn) c.1343C>A (p.Thr448Asn) c.1334C>A (p.Thr445Asn) c.1244C>A (p.Thr415Asn) c.779C>A (p.Thr260Asn) c.129C>A c.*810C>A (n.*810C>A) | |
| 14 | g.87947808_87947810del | CA2625979196 | GALC | c.1410_1412del (p.Thr471del) c.1341_1343del (p.Thr448del) c.1332_1334del (p.Thr445del) c.1242_1244del (p.Thr415del) c.777_779del (p.Thr260del) c.127_129del c.*808_*810del (n.*808_*810del) | gnomAD v4 |
| 14 | g.87947806T>A | CA390746531 | GALC | c.1411A>T (p.Thr471Ser) c.1342A>T (p.Thr448Ser) c.1333A>T (p.Thr445Ser) c.1243A>T (p.Thr415Ser) c.778A>T (p.Thr260Ser) c.128A>T c.*809A>T (n.*809A>T) | |
| 14 | g.87947806T>C | CA390746532 | GALC | c.1411A>G (p.Thr471Ala) c.1342A>G (p.Thr448Ala) c.1333A>G (p.Thr445Ala) c.1243A>G (p.Thr415Ala) c.778A>G (p.Thr260Ala) c.128A>G c.*809A>G (n.*809A>G) | |
| 14 | g.87947806T>G | CA390746533 | GALC | c.1411A>C (p.Thr471Pro) c.1342A>C (p.Thr448Pro) c.1333A>C (p.Thr445Pro) c.1243A>C (p.Thr415Pro) c.778A>C (p.Thr260Pro) c.128A>C c.*809A>C (n.*809A>C) | |
| 14 | g.87947806_87947807delinsTG | CA2153358848 | GALC | c.1410_1411delinsCA (p.Thr470=) c.1341_1342delinsCA (p.Thr447=) c.1332_1333delinsCA (p.Thr444=) c.1242_1243delinsCA (p.Thr414=) c.777_778delinsCA (p.Thr259=) c.127_128delinsCA c.*808_*809delinsCA (n.*808_*809delinsCA) | |
| 14 | g.87947807G>A | CA487355655 | GALC | c.1410C>T (p.Thr470=) c.1341C>T (p.Thr447=) c.1332C>T (p.Thr444=) c.1242C>T (p.Thr414=) c.777C>T (p.Thr259=) c.127C>T c.*808C>T (n.*808C>T) | gnomAD v4 |
| 14 | g.87947807G>C | CA487355654 | GALC | c.1410C>G (p.Thr470=) c.1341C>G (p.Thr447=) c.1332C>G (p.Thr444=) c.1242C>G (p.Thr414=) c.777C>G (p.Thr259=) c.127C>G c.*808C>G (n.*808C>G) | |
| 14 | g.87947807G>T | CA487355653 | GALC | c.1410C>A (p.Thr470=) c.1341C>A (p.Thr447=) c.1332C>A (p.Thr444=) c.1242C>A (p.Thr414=) c.777C>A (p.Thr259=) c.127C>A c.*808C>A (n.*808C>A) | |
| 14 | g.87947808del | CA615271328 | GALC | c.1410del (p.Thr471LeufsTer?) c.1341del (p.Thr448LeufsTer?) c.1332del (p.Thr445LeufsTer?) c.1242del (p.Thr415LeufsTer?) c.777del (p.Thr260LeufsTer?) c.127del c.*808del (n.*808del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947808G>A | CA7297020 | GALC | c.1409C>T (p.Thr470Ile) c.1340C>T (p.Thr447Ile) c.1331C>T (p.Thr444Ile) c.1241C>T (p.Thr414Ile) c.776C>T (p.Thr259Ile) c.126C>T c.*807C>T (n.*807C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87947808G>C | CA390746534 | GALC | c.1409C>G (p.Thr470Ser) c.1340C>G (p.Thr447Ser) c.1331C>G (p.Thr444Ser) c.1241C>G (p.Thr414Ser) c.776C>G (p.Thr259Ser) c.126C>G c.*807C>G (n.*807C>G) | |
| 14 | g.87947808G= | CA2153358851 | GALC | c.1409C= (p.Thr470=) c.1340C= (p.Thr447=) c.1331C= (p.Thr444=) c.1241C= (p.Thr414=) c.776C= (p.Thr259=) c.126C= c.*807C= (n.*807C=) | |
| 14 | g.87947808G>T | CA390746535 | GALC | c.1409C>A (p.Thr470Asn) c.1340C>A (p.Thr447Asn) c.1331C>A (p.Thr444Asn) c.1241C>A (p.Thr414Asn) c.776C>A (p.Thr259Asn) c.126C>A c.*807C>A (n.*807C>A) | |
| 14 | g.87947809T>A | CA390746536 | GALC | c.1408A>T (p.Thr470Ser) c.1339A>T (p.Thr447Ser) c.1330A>T (p.Thr444Ser) c.1240A>T (p.Thr414Ser) c.775A>T (p.Thr259Ser) c.125A>T c.*806A>T (n.*806A>T) | |
| 14 | g.87947809T>C | CA390746538 | GALC | c.1408A>G (p.Thr470Ala) c.1339A>G (p.Thr447Ala) c.1330A>G (p.Thr444Ala) c.1240A>G (p.Thr414Ala) c.775A>G (p.Thr259Ala) c.125A>G c.*806A>G (n.*806A>G) | |
| 14 | g.87947809T>G | CA390746537 | GALC | c.1408A>C (p.Thr470Pro) c.1339A>C (p.Thr447Pro) c.1330A>C (p.Thr444Pro) c.1240A>C (p.Thr414Pro) c.775A>C (p.Thr259Pro) c.125A>C c.*806A>C (n.*806A>C) | gnomAD v4 |
| 14 | g.87947810G>A | CA487355656 | GALC | c.1407C>T (p.Leu469=) c.1338C>T (p.Leu446=) c.1329C>T (p.Leu443=) c.1239C>T (p.Leu413=) c.774C>T (p.Leu258=) c.124C>T c.*805C>T (n.*805C>T) | |
| 14 | g.87947810G>C | CA487355658 | GALC | c.1407C>G (p.Leu469=) c.1338C>G (p.Leu446=) c.1329C>G (p.Leu443=) c.1239C>G (p.Leu413=) c.774C>G (p.Leu258=) c.124C>G c.*805C>G (n.*805C>G) | |
| 14 | g.87947810G>T | CA487355657 | GALC | c.1407C>A (p.Leu469=) c.1338C>A (p.Leu446=) c.1329C>A (p.Leu443=) c.1239C>A (p.Leu413=) c.774C>A (p.Leu258=) c.124C>A c.*805C>A (n.*805C>A) | ClinVar |
| 14 | g.87947810_87947812delinsA | CA2695219663 | GALC | c.1405_1407delinsT (p.Leu469TyrfsTer22) c.1336_1338delinsT (p.Leu446TyrfsTer22) c.1327_1329delinsT (p.Leu443TyrfsTer22) c.1237_1239delinsT (p.Leu413TyrfsTer22) c.772_774delinsT (p.Leu258TyrfsTer22) c.122_124delinsT c.*803_*805delinsT (n.*803_*805delinsT) | |
| 14 | g.87947811A>C | CA390746539 | GALC | c.1406T>G (p.Leu469Arg) c.1337T>G (p.Leu446Arg) c.1328T>G (p.Leu443Arg) c.1238T>G (p.Leu413Arg) c.773T>G (p.Leu258Arg) c.123T>G c.*804T>G (n.*804T>G) | |
| 14 | g.87947811A>G | CA390746540 | GALC | c.1406T>C (p.Leu469Pro) c.1337T>C (p.Leu446Pro) c.1328T>C (p.Leu443Pro) c.1238T>C (p.Leu413Pro) c.773T>C (p.Leu258Pro) c.123T>C c.*804T>C (n.*804T>C) | gnomAD v4 |
| 14 | g.87947811A>T | CA390746541 | GALC | c.1406T>A (p.Leu469His) c.1337T>A (p.Leu446His) c.1328T>A (p.Leu443His) c.1238T>A (p.Leu413His) c.773T>A (p.Leu258His) c.123T>A c.*804T>A (n.*804T>A) | |
| 14 | g.87947812G>A | CA390746542 | GALC | c.1405C>T (p.Leu469Phe) c.1336C>T (p.Leu446Phe) c.1327C>T (p.Leu443Phe) c.1237C>T (p.Leu413Phe) c.772C>T (p.Leu258Phe) c.122C>T c.*803C>T (n.*803C>T) | ClinVar |
| 14 | g.87947812G>C | CA390746543 | GALC | c.1405C>G (p.Leu469Val) c.1336C>G (p.Leu446Val) c.1327C>G (p.Leu443Val) c.1237C>G (p.Leu413Val) c.772C>G (p.Leu258Val) c.122C>G c.*803C>G (n.*803C>G) | ClinVar gnomAD v4 |
| 14 | g.87947812G>T | CA390746544 | GALC | c.1405C>A (p.Leu469Ile) c.1336C>A (p.Leu446Ile) c.1327C>A (p.Leu443Ile) c.1237C>A (p.Leu413Ile) c.772C>A (p.Leu258Ile) c.122C>A c.*803C>A (n.*803C>A) | |
| 14 | g.87947813A>C | CA487355659 | GALC | c.1404T>G (p.Thr468=) c.1335T>G (p.Thr445=) c.1326T>G (p.Thr442=) c.1236T>G (p.Thr412=) c.771T>G (p.Thr257=) c.121T>G c.*802T>G (n.*802T>G) | |
| 14 | g.87947813A>G | CA487355660 | GALC | c.1404T>C (p.Thr468=) c.1335T>C (p.Thr445=) c.1326T>C (p.Thr442=) c.1236T>C (p.Thr412=) c.771T>C (p.Thr257=) c.121T>C c.*802T>C (n.*802T>C) | gnomAD v4 |
| 14 | g.87947813A>T | CA487355661 | GALC | c.1404T>A (p.Thr468=) c.1335T>A (p.Thr445=) c.1326T>A (p.Thr442=) c.1236T>A (p.Thr412=) c.771T>A (p.Thr257=) c.121T>A c.*802T>A (n.*802T>A) | |
| 14 | g.87947814G>A | CA390746545 | GALC | c.1403C>T (p.Thr468Ile) c.1334C>T (p.Thr445Ile) c.1325C>T (p.Thr442Ile) c.1235C>T (p.Thr412Ile) c.770C>T (p.Thr257Ile) c.120C>T c.*801C>T (n.*801C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87947814G>C | CA145802 | GALC | c.1403C>G (p.Thr468Ser) c.1334C>G (p.Thr445Ser) c.1325C>G (p.Thr442Ser) c.1235C>G (p.Thr412Ser) c.770C>G (p.Thr257Ser) c.120C>G c.*801C>G (n.*801C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947814G= | CA2153358858 | GALC | c.1403C= (p.Thr468=) c.1334C= (p.Thr445=) c.1325C= (p.Thr442=) c.1235C= (p.Thr412=) c.770C= (p.Thr257=) c.120C= c.*801C= (n.*801C=) | |
| 14 | g.87947814G>T | CA390746546 | GALC | c.1403C>A (p.Thr468Asn) c.1334C>A (p.Thr445Asn) c.1325C>A (p.Thr442Asn) c.1235C>A (p.Thr412Asn) c.770C>A (p.Thr257Asn) c.120C>A c.*801C>A (n.*801C>A) | |
| 14 | g.87947815T>A | CA390746548 | GALC | c.1402A>T (p.Thr468Ser) c.1333A>T (p.Thr445Ser) c.1324A>T (p.Thr442Ser) c.1234A>T (p.Thr412Ser) c.769A>T (p.Thr257Ser) c.119A>T c.*800A>T (n.*800A>T) | |
| 14 | g.87947815T>C | CA390746549 | GALC | c.1402A>G (p.Thr468Ala) c.1333A>G (p.Thr445Ala) c.1324A>G (p.Thr442Ala) c.1234A>G (p.Thr412Ala) c.769A>G (p.Thr257Ala) c.119A>G c.*800A>G (n.*800A>G) | |
| 14 | g.87947815T>G | CA390746547 | GALC | c.1402A>C (p.Thr468Pro) c.1333A>C (p.Thr445Pro) c.1324A>C (p.Thr442Pro) c.1234A>C (p.Thr412Pro) c.769A>C (p.Thr257Pro) c.119A>C c.*800A>C (n.*800A>C) | |
| 14 | g.87947816G>A | CA487355662 | GALC | c.1401C>T (p.Thr467=) c.1332C>T (p.Thr444=) c.1323C>T (p.Thr441=) c.1233C>T (p.Thr411=) c.768C>T (p.Thr256=) c.118C>T c.*799C>T (n.*799C>T) | |
| 14 | g.87947816G>C | CA487355663 | GALC | c.1401C>G (p.Thr467=) c.1332C>G (p.Thr444=) c.1323C>G (p.Thr441=) c.1233C>G (p.Thr411=) c.768C>G (p.Thr256=) c.118C>G c.*799C>G (n.*799C>G) | |
| 14 | g.87947816G>T | CA487355664 | GALC | c.1401C>A (p.Thr467=) c.1332C>A (p.Thr444=) c.1323C>A (p.Thr441=) c.1233C>A (p.Thr411=) c.768C>A (p.Thr256=) c.118C>A c.*799C>A (n.*799C>A) | |
| 14 | g.87947817G>A | CA390746550 | GALC | c.1400C>T (p.Thr467Ile) c.1331C>T (p.Thr444Ile) c.1322C>T (p.Thr441Ile) c.1232C>T (p.Thr411Ile) c.767C>T (p.Thr256Ile) c.117C>T c.*798C>T (n.*798C>T) | ClinVar dbSNP |
| 14 | g.87947817G>C | CA390746551 | GALC | c.1400C>G (p.Thr467Ser) c.1331C>G (p.Thr444Ser) c.1322C>G (p.Thr441Ser) c.1232C>G (p.Thr411Ser) c.767C>G (p.Thr256Ser) c.117C>G c.*798C>G (n.*798C>G) | dbSNP gnomAD v4 |
| 14 | g.87947817G= | CA2153358863 | GALC | c.1400C= (p.Thr467=) c.1331C= (p.Thr444=) c.1322C= (p.Thr441=) c.1232C= (p.Thr411=) c.767C= (p.Thr256=) c.117C= c.*798C= (n.*798C=) | |
| 14 | g.87947817G>T | CA7297021 | GALC | c.1400C>A (p.Thr467Asn) c.1331C>A (p.Thr444Asn) c.1322C>A (p.Thr441Asn) c.1232C>A (p.Thr411Asn) c.767C>A (p.Thr256Asn) c.117C>A c.*798C>A (n.*798C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947818T>A | CA390746552 | GALC | c.1399A>T (p.Thr467Ser) c.1330A>T (p.Thr444Ser) c.1321A>T (p.Thr441Ser) c.1231A>T (p.Thr411Ser) c.766A>T (p.Thr256Ser) c.116A>T c.*797A>T (n.*797A>T) | |
| 14 | g.87947818T>C | CA390746553 | GALC | c.1399A>G (p.Thr467Ala) c.1330A>G (p.Thr444Ala) c.1321A>G (p.Thr441Ala) c.1231A>G (p.Thr411Ala) c.766A>G (p.Thr256Ala) c.116A>G c.*797A>G (n.*797A>G) | |
| 14 | g.87947818T>G | CA390746554 | GALC | c.1399A>C (p.Thr467Pro) c.1330A>C (p.Thr444Pro) c.1321A>C (p.Thr441Pro) c.1231A>C (p.Thr411Pro) c.766A>C (p.Thr256Pro) c.116A>C c.*797A>C (n.*797A>C) | |
| 14 | g.87947818dup | CA16042900 | GALC | c.1399dup (p.Thr467AsnfsTer25) c.1330dup (p.Thr444AsnfsTer25) c.1321dup (p.Thr441AsnfsTer25) c.1231dup (p.Thr411AsnfsTer25) c.766dup (p.Thr256AsnfsTer25) c.116dup c.*797dup (n.*797dup) | ClinVar dbSNP |
| 14 | g.87947819G>A | CA487355665 | GALC | c.1398C>T (p.Leu466=) c.1329C>T (p.Leu443=) c.1320C>T (p.Leu440=) c.1230C>T (p.Leu410=) c.765C>T (p.Leu255=) c.115C>T c.*796C>T (n.*796C>T) | ClinVar dbSNP |
| 14 | g.87947819G>C | CA487355666 | GALC | c.1398C>G (p.Leu466=) c.1329C>G (p.Leu443=) c.1320C>G (p.Leu440=) c.1230C>G (p.Leu410=) c.765C>G (p.Leu255=) c.115C>G c.*796C>G (n.*796C>G) | |
| 14 | g.87947819G>T | CA487355667 | GALC | c.1398C>A (p.Leu466=) c.1329C>A (p.Leu443=) c.1320C>A (p.Leu440=) c.1230C>A (p.Leu410=) c.765C>A (p.Leu255=) c.115C>A c.*796C>A (n.*796C>A) | |
| 14 | g.87947820A>C | CA390746555 | GALC | c.1397T>G (p.Leu466Arg) c.1328T>G (p.Leu443Arg) c.1319T>G (p.Leu440Arg) c.1229T>G (p.Leu410Arg) c.764T>G (p.Leu255Arg) c.114T>G c.*795T>G (n.*795T>G) | |
| 14 | g.87947820A>G | CA390746556 | GALC | c.1397T>C (p.Leu466Pro) c.1328T>C (p.Leu443Pro) c.1319T>C (p.Leu440Pro) c.1229T>C (p.Leu410Pro) c.764T>C (p.Leu255Pro) c.114T>C c.*795T>C (n.*795T>C) | gnomAD v4 |
| 14 | g.87947820A>T | CA390746557 | GALC | c.1397T>A (p.Leu466His) c.1328T>A (p.Leu443His) c.1319T>A (p.Leu440His) c.1229T>A (p.Leu410His) c.764T>A (p.Leu255His) c.114T>A c.*795T>A (n.*795T>A) | |
| 14 | g.87947821G>A | CA7297023 | GALC | c.1396C>T (p.Leu466Phe) c.1327C>T (p.Leu443Phe) c.1318C>T (p.Leu440Phe) c.1228C>T (p.Leu410Phe) c.763C>T (p.Leu255Phe) c.113C>T c.*794C>T (n.*794C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947821G>C | CA390746558 | GALC | c.1396C>G (p.Leu466Val) c.1327C>G (p.Leu443Val) c.1318C>G (p.Leu440Val) c.1228C>G (p.Leu410Val) c.763C>G (p.Leu255Val) c.113C>G c.*794C>G (n.*794C>G) | gnomAD v4 |
| 14 | g.87947821G= | CA2153358871 | GALC | c.1396C= (p.Leu466=) c.1327C= (p.Leu443=) c.1318C= (p.Leu440=) c.1228C= (p.Leu410=) c.763C= (p.Leu255=) c.113C= c.*794C= (n.*794C=) | |
| 14 | g.87947821G>T | CA7297022 | GALC | c.1396C>A (p.Leu466Ile) c.1327C>A (p.Leu443Ile) c.1318C>A (p.Leu440Ile) c.1228C>A (p.Leu410Ile) c.763C>A (p.Leu255Ile) c.113C>A c.*794C>A (n.*794C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947822T>A | CA487355668 | GALC | c.1395A>T (p.Thr465=) c.1326A>T (p.Thr442=) c.1317A>T (p.Thr439=) c.1227A>T (p.Thr409=) c.762A>T (p.Thr254=) c.112A>T c.*793A>T (n.*793A>T) | |
| 14 | g.87947822T>C | CA487355669 | GALC | c.1395A>G (p.Thr465=) c.1326A>G (p.Thr442=) c.1317A>G (p.Thr439=) c.1227A>G (p.Thr409=) c.762A>G (p.Thr254=) c.112A>G c.*793A>G (n.*793A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87947822T>G | CA487355670 | GALC | c.1395A>C (p.Thr465=) c.1326A>C (p.Thr442=) c.1317A>C (p.Thr439=) c.1227A>C (p.Thr409=) c.762A>C (p.Thr254=) c.112A>C c.*793A>C (n.*793A>C) | |
| 14 | g.87947822T= | CA2153358876 | GALC | c.1395A= (p.Thr465=) c.1326A= (p.Thr442=) c.1317A= (p.Thr439=) c.1227A= (p.Thr409=) c.762A= (p.Thr254=) c.112A= c.*793A= (n.*793A=) | |
| 14 | g.87947822_87947823insATTTTTCACTAAAA | CA2531869981 | GALC | c.1394_1395insTTTTAGTGAAAAAT (p.Leu466PhefsTer?) c.1325_1326insTTTTAGTGAAAAAT (p.Leu443PhefsTer?) c.1316_1317insTTTTAGTGAAAAAT (p.Leu440PhefsTer?) c.1226_1227insTTTTAGTGAAAAAT (p.Leu410PhefsTer?) c.761_762insTTTTAGTGAAAAAT (p.Leu255PhefsTer?) c.111_112insTTTTAGTGAAAAAT c.*792_*793insTTTTAGTGAAAAAT (n.*792_*793insTTTTAGTGAAAAAT) | |
| 14 | g.87947823G>A | CA390746560 | GALC | c.1394C>T (p.Thr465Ile) c.1325C>T (p.Thr442Ile) c.1316C>T (p.Thr439Ile) c.1226C>T (p.Thr409Ile) c.761C>T (p.Thr254Ile) c.111C>T c.*792C>T (n.*792C>T) | ClinVar dbSNP |
| 14 | g.87947823G>C | CA390746561 | GALC | c.1394C>G (p.Thr465Arg) c.1325C>G (p.Thr442Arg) c.1316C>G (p.Thr439Arg) c.1226C>G (p.Thr409Arg) c.761C>G (p.Thr254Arg) c.111C>G c.*792C>G (n.*792C>G) | |
| 14 | g.87947823G= | CA2153358879 | GALC | c.1394C= (p.Thr465=) c.1325C= (p.Thr442=) c.1316C= (p.Thr439=) c.1226C= (p.Thr409=) c.761C= (p.Thr254=) c.111C= c.*792C= (n.*792C=) | |
| 14 | g.87947823G>T | CA390746559 | GALC | c.1394C>A (p.Thr465Lys) c.1325C>A (p.Thr442Lys) c.1316C>A (p.Thr439Lys) c.1226C>A (p.Thr409Lys) c.761C>A (p.Thr254Lys) c.111C>A c.*792C>A (n.*792C>A) | |
| 14 | g.87947824T>A | CA7297024 | GALC | c.1393A>T (p.Thr465Ser) c.1324A>T (p.Thr442Ser) c.1315A>T (p.Thr439Ser) c.1225A>T (p.Thr409Ser) c.760A>T (p.Thr254Ser) c.110A>T c.*791A>T (n.*791A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87947824T>C | CA390746562 | GALC | c.1393A>G (p.Thr465Ala) c.1324A>G (p.Thr442Ala) c.1315A>G (p.Thr439Ala) c.1225A>G (p.Thr409Ala) c.760A>G (p.Thr254Ala) c.110A>G c.*791A>G (n.*791A>G) | |
| 14 | g.87947824T>G | CA390746563 | GALC | c.1393A>C (p.Thr465Pro) c.1324A>C (p.Thr442Pro) c.1315A>C (p.Thr439Pro) c.1225A>C (p.Thr409Pro) c.760A>C (p.Thr254Pro) c.110A>C c.*791A>C (n.*791A>C) | |
| 14 | g.87947824T= | CA2153358882 | GALC | c.1393A= (p.Thr465=) c.1324A= (p.Thr442=) c.1315A= (p.Thr439=) c.1225A= (p.Thr409=) c.760A= (p.Thr254=) c.110A= c.*791A= (n.*791A=) | |
| 14 | g.87947825G>A | CA487355671 | GALC | c.1392C>T (p.Phe464=) c.1323C>T (p.Phe441=) c.1314C>T (p.Phe438=) c.1224C>T (p.Phe408=) c.759C>T (p.Phe253=) c.109C>T c.*790C>T (n.*790C>T) | COSMIC |
| 14 | g.87947825G>C | CA390746564 | GALC | c.1392C>G (p.Phe464Leu) c.1323C>G (p.Phe441Leu) c.1314C>G (p.Phe438Leu) c.1224C>G (p.Phe408Leu) c.759C>G (p.Phe253Leu) c.109C>G c.*790C>G (n.*790C>G) | |
| 14 | g.87947825G= | CA2153358885 | GALC | c.1392C= (p.Phe464=) c.1323C= (p.Phe441=) c.1314C= (p.Phe438=) c.1224C= (p.Phe408=) c.759C= (p.Phe253=) c.109C= c.*790C= (n.*790C=) | |
| 14 | g.87947825G>T | CA390746565 | GALC | c.1392C>A (p.Phe464Leu) c.1323C>A (p.Phe441Leu) c.1314C>A (p.Phe438Leu) c.1224C>A (p.Phe408Leu) c.759C>A (p.Phe253Leu) c.109C>A c.*790C>A (n.*790C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87947826A>C | CA390746568 | GALC | c.1391T>G (p.Phe464Cys) c.1322T>G (p.Phe441Cys) c.1313T>G (p.Phe438Cys) c.1223T>G (p.Phe408Cys) c.758T>G (p.Phe253Cys) c.108T>G c.*789T>G (n.*789T>G) | |
| 14 | g.87947826A>G | CA390746566 | GALC | c.1391T>C (p.Phe464Ser) c.1322T>C (p.Phe441Ser) c.1313T>C (p.Phe438Ser) c.1223T>C (p.Phe408Ser) c.758T>C (p.Phe253Ser) c.108T>C c.*789T>C (n.*789T>C) | |
| 14 | g.87947826A>T | CA390746567 | GALC | c.1391T>A (p.Phe464Tyr) c.1322T>A (p.Phe441Tyr) c.1313T>A (p.Phe438Tyr) c.1223T>A (p.Phe408Tyr) c.758T>A (p.Phe253Tyr) c.108T>A c.*789T>A (n.*789T>A) | |
| 14 | g.87947827A>C | CA390746569 | GALC | c.1390T>G (p.Phe464Val) c.1321T>G (p.Phe441Val) c.1312T>G (p.Phe438Val) c.1222T>G (p.Phe408Val) c.757T>G (p.Phe253Val) c.107T>G c.*788T>G (n.*788T>G) | gnomAD v4 |
| 14 | g.87947827A>G | CA390746570 | GALC | c.1390T>C (p.Phe464Leu) c.1321T>C (p.Phe441Leu) c.1312T>C (p.Phe438Leu) c.1222T>C (p.Phe408Leu) c.757T>C (p.Phe253Leu) c.107T>C c.*788T>C (n.*788T>C) | |
| 14 | g.87947827A>T | CA390746571 | GALC | c.1390T>A (p.Phe464Ile) c.1321T>A (p.Phe441Ile) c.1312T>A (p.Phe438Ile) c.1222T>A (p.Phe408Ile) c.757T>A (p.Phe253Ile) c.107T>A c.*788T>A (n.*788T>A) | |
| 14 | g.87947828C>A | CA487355672 | GALC | c.1389G>T (p.Leu463=) c.1320G>T (p.Leu440=) c.1311G>T (p.Leu437=) c.1221G>T (p.Leu407=) c.756G>T (p.Leu252=) c.106G>T c.*787G>T (n.*787G>T) | |
| 14 | g.87947828C>G | CA487355673 | GALC | c.1389G>C (p.Leu463=) c.1320G>C (p.Leu440=) c.1311G>C (p.Leu437=) c.1221G>C (p.Leu407=) c.756G>C (p.Leu252=) c.106G>C c.*787G>C (n.*787G>C) | |
| 14 | g.87947828C>T | CA487355674 | GALC | c.1389G>A (p.Leu463=) c.1320G>A (p.Leu440=) c.1311G>A (p.Leu437=) c.1221G>A (p.Leu407=) c.756G>A (p.Leu252=) c.106G>A c.*787G>A (n.*787G>A) | |
| 14 | g.87947829A= | CA2153358887 | GALC | c.1388T= (p.Leu463=) c.1319T= (p.Leu440=) c.1310T= (p.Leu437=) c.1220T= (p.Leu407=) c.755T= (p.Leu252=) c.105T= c.*786T= (n.*786T=) | |
| 14 | g.87947829A>C | CA390746572 | GALC | c.1388T>G (p.Leu463Arg) c.1319T>G (p.Leu440Arg) c.1310T>G (p.Leu437Arg) c.1220T>G (p.Leu407Arg) c.755T>G (p.Leu252Arg) c.105T>G c.*786T>G (n.*786T>G) | |
| 14 | g.87947829A>G | CA390746573 | GALC | c.1388T>C (p.Leu463Pro) c.1319T>C (p.Leu440Pro) c.1310T>C (p.Leu437Pro) c.1220T>C (p.Leu407Pro) c.755T>C (p.Leu252Pro) c.105T>C c.*786T>C (n.*786T>C) | dbSNP gnomAD v4 |
| 14 | g.87947829A>T | CA390746574 | GALC | c.1388T>A (p.Leu463Gln) c.1319T>A (p.Leu440Gln) c.1310T>A (p.Leu437Gln) c.1220T>A (p.Leu407Gln) c.755T>A (p.Leu252Gln) c.105T>A c.*786T>A (n.*786T>A) | |
| 14 | g.87947830G>A | CA487355675 | GALC | c.1387C>T (p.Leu463=) c.1318C>T (p.Leu440=) c.1309C>T (p.Leu437=) c.1219C>T (p.Leu407=) c.754C>T (p.Leu252=) c.104C>T c.*785C>T (n.*785C>T) | |
| 14 | g.87947830G>C | CA390746576 | GALC | c.1387C>G (p.Leu463Val) c.1318C>G (p.Leu440Val) c.1309C>G (p.Leu437Val) c.1219C>G (p.Leu407Val) c.754C>G (p.Leu252Val) c.104C>G c.*785C>G (n.*785C>G) | |
| 14 | g.87947830G>T | CA390746575 | GALC | c.1387C>A (p.Leu463Met) c.1318C>A (p.Leu440Met) c.1309C>A (p.Leu437Met) c.1219C>A (p.Leu407Met) c.754C>A (p.Leu252Met) c.104C>A c.*785C>A (n.*785C>A) | |
| 14 | g.87947831C>A | CA390746577 | GALC | c.1386G>T (p.Glu462Asp) c.1317G>T (p.Glu439Asp) c.1308G>T (p.Glu436Asp) c.1218G>T (p.Glu406Asp) c.753G>T (p.Glu251Asp) c.103G>T c.*784G>T (n.*784G>T) | |
| 14 | g.87947831C>G | CA390746578 | GALC | c.1386G>C (p.Glu462Asp) c.1317G>C (p.Glu439Asp) c.1308G>C (p.Glu436Asp) c.1218G>C (p.Glu406Asp) c.753G>C (p.Glu251Asp) c.103G>C c.*784G>C (n.*784G>C) | |
| 14 | g.87947831C>T | CA487355676 | GALC | c.1386G>A (p.Glu462=) c.1317G>A (p.Glu439=) c.1308G>A (p.Glu436=) c.1218G>A (p.Glu406=) c.753G>A (p.Glu251=) c.103G>A c.*784G>A (n.*784G>A) | ClinVar gnomAD v4 |
| 14 | g.87947832T>A | CA390746579 | GALC | c.1385A>T (p.Glu462Val) c.1316A>T (p.Glu439Val) c.1307A>T (p.Glu436Val) c.1217A>T (p.Glu406Val) c.752A>T (p.Glu251Val) c.102A>T c.*783A>T (n.*783A>T) | |
| 14 | g.87947832T>C | CA390746580 | GALC | c.1385A>G (p.Glu462Gly) c.1316A>G (p.Glu439Gly) c.1307A>G (p.Glu436Gly) c.1217A>G (p.Glu406Gly) c.752A>G (p.Glu251Gly) c.102A>G c.*783A>G (n.*783A>G) | gnomAD v4 |
| 14 | g.87947832T>G | CA390746581 | GALC | c.1385A>C (p.Glu462Ala) c.1316A>C (p.Glu439Ala) c.1307A>C (p.Glu436Ala) c.1217A>C (p.Glu406Ala) c.752A>C (p.Glu251Ala) c.102A>C c.*783A>C (n.*783A>C) | ClinVar gnomAD v4 |
| 14 | g.87947833C>A | CA390746582 | GALC | c.1384G>T (p.Glu462Ter) c.1315G>T (p.Glu439Ter) c.1306G>T (p.Glu436Ter) c.1216G>T (p.Glu406Ter) c.751G>T (p.Glu251Ter) c.101G>T c.*782G>T (n.*782G>T) | gnomAD v4 |
| 14 | g.87947833C>G | CA390746583 | GALC | c.1384G>C (p.Glu462Gln) c.1315G>C (p.Glu439Gln) c.1306G>C (p.Glu436Gln) c.1216G>C (p.Glu406Gln) c.751G>C (p.Glu251Gln) c.101G>C c.*782G>C (n.*782G>C) | |
| 14 | g.87947833C>T | CA390746584 | GALC | c.1384G>A (p.Glu462Lys) c.1315G>A (p.Glu439Lys) c.1306G>A (p.Glu436Lys) c.1216G>A (p.Glu406Lys) c.751G>A (p.Glu251Lys) c.101G>A c.*782G>A (n.*782G>A) | |
| 14 | g.87947834A>C | CA390746585 | GALC | c.1383T>G (p.Asp461Glu) c.1314T>G (p.Asp438Glu) c.1305T>G (p.Asp435Glu) c.1215T>G (p.Asp405Glu) c.750T>G (p.Asp250Glu) c.100T>G c.*781T>G (n.*781T>G) | |
| 14 | g.87947834A>G | CA487355677 | GALC | c.1383T>C (p.Asp461=) c.1314T>C (p.Asp438=) c.1305T>C (p.Asp435=) c.1215T>C (p.Asp405=) c.750T>C (p.Asp250=) c.100T>C c.*781T>C (n.*781T>C) | ClinVar dbSNP |
| 14 | g.87947834A>T | CA390746586 | GALC | c.1383T>A (p.Asp461Glu) c.1314T>A (p.Asp438Glu) c.1305T>A (p.Asp435Glu) c.1215T>A (p.Asp405Glu) c.750T>A (p.Asp250Glu) c.100T>A c.*781T>A (n.*781T>A) | |
| 14 | g.87947835T>A | CA390746587 | GALC | c.1382A>T (p.Asp461Val) c.1313A>T (p.Asp438Val) c.1304A>T (p.Asp435Val) c.1214A>T (p.Asp405Val) c.749A>T (p.Asp250Val) c.99A>T c.*780A>T (n.*780A>T) | |
| 14 | g.87947835T>C | CA390746588 | GALC | c.1382A>G (p.Asp461Gly) c.1313A>G (p.Asp438Gly) c.1304A>G (p.Asp435Gly) c.1214A>G (p.Asp405Gly) c.749A>G (p.Asp250Gly) c.99A>G c.*780A>G (n.*780A>G) | |
| 14 | g.87947835T>G | CA390746589 | GALC | c.1382A>C (p.Asp461Ala) c.1313A>C (p.Asp438Ala) c.1304A>C (p.Asp435Ala) c.1214A>C (p.Asp405Ala) c.749A>C (p.Asp250Ala) c.99A>C c.*780A>C (n.*780A>C) |