| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |