NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_000153.4(GALC):c.349A>G (p.Met117Val)
|
rs145580093
|
0.00057
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00018
|
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)
|
rs200960659
|
0.00009
|
NM_000153.4(GALC):c.265-2A>G
|
rs199710405
|
0.00006
|
NM_000153.4(GALC):c.1592G>A (p.Arg531His)
|
rs200378205
|
0.00004
|
NM_000153.4(GALC):c.2041G>A (p.Val681Met)
|
rs200607029
|
0.00004
|
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)
|
rs770485731
|
0.00003
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
NM_000153.4(GALC):c.388G>A (p.Glu130Lys)
|
rs374635469
|
0.00003
|
NM_000153.4(GALC):c.850G>A (p.Gly284Ser)
|
rs377274761
|
0.00003
|
NM_000153.4(GALC):c.868C>T (p.Arg290Cys)
|
rs780750448
|
0.00003
|
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter)
|
rs766007316
|
0.00002
|
NM_000153.4(GALC):c.628A>T (p.Arg210Ter)
|
rs202131052
|
0.00002
|
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)
|
rs199847983
|
0.00002
|
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)
|
rs375867319
|
0.00001
|
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys)
|
rs749893889
|
0.00001
|
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)
|
rs387906952
|
0.00001
|
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg)
|
rs748573754
|
0.00001
|
NM_000153.4(GALC):c.1858G>A (p.Gly620Arg)
|
rs779864190
|
0.00001
|
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)
|
rs766762599
|
0.00001
|
NM_000153.4(GALC):c.205C>T (p.Arg69Ter)
|
rs771111145
|
0.00001
|
NM_000153.4(GALC):c.328+1G>T
|
rs779701490
|
0.00001
|
NM_000153.4(GALC):c.331G>A (p.Gly111Ser)
|
rs756690487
|
0.00001
|
NM_000153.4(GALC):c.489G>A (p.Trp163Ter)
|
rs761550284
|
0.00001
|
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)
|
rs1436074042
|
0.00001
|
NM_000153.4(GALC):c.749T>C (p.Ile250Thr)
|
rs886039569
|
0.00001
|
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)
|
rs756352952
|
0.00001
|
NM_000153.4(GALC):c.1012del (p.Glu338fs)
|
rs1057516469
|
|
NM_000153.4(GALC):c.1021del (p.Val341fs)
|
rs1057517382
|
|
NM_000153.4(GALC):c.1273del (p.Val425fs)
|
rs1057516394
|
|
NM_000153.4(GALC):c.1394C>T (p.Thr465Ile)
|
rs1566974586
|
|
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)
|
rs202135871
|
|
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer)
|
rs1555378701
|
|
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer)
|
rs1057516433
|
|
NM_000153.4(GALC):c.1884dup (p.Trp629fs)
|
rs1336726861
|
|
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter)
|
rs1057516453
|
|
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs)
|
rs749708827
|
|
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer)
|
rs1555378534
|
|
NM_000153.4(GALC):c.1911+1_1911+5del
|
rs777955784
|
|
NM_000153.4(GALC):c.293dup (p.Leu98fs)
|
rs757799254
|
|
NM_000153.4(GALC):c.349A>T (p.Met117Leu)
|
rs145580093
|
|
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter)
|
rs1240965365
|
|
NM_000153.4(GALC):c.411_413del (p.Lys139del)
|
rs1555383687
|
|
NM_000153.4(GALC):c.433dup (p.Thr145fs)
|
rs1555383679
|
|
NM_000153.4(GALC):c.453G>A (p.Trp151Ter)
|
rs745620101
|
|
NM_000153.4(GALC):c.467_468dup (p.Leu157fs)
|
rs1057517185
|
|
NM_000153.4(GALC):c.521del (p.Tyr174fs)
|
rs1555383517
|
|
NM_000153.4(GALC):c.533G>A (p.Trp178Ter)
|
rs968905231
|
|
NM_000153.4(GALC):c.560A>T (p.Asp187Val)
|
rs997021099
|
|
NM_000153.4(GALC):c.583-1G>C
|
rs1555383310
|
|
NM_000153.4(GALC):c.599C>A (p.Ser200Ter)
|
rs786204618
|
|
NM_000153.4(GALC):c.658C>T (p.Arg220Ter)
|
rs766310671
|
|
NM_000153.4(GALC):c.7dup (p.Glu3fs)
|
rs1555384381
|
|
NM_000153.4(GALC):c.884A>T (p.Asn295Ile)
|
rs746922378
|
|
NM_000153.4(GALC):c.946C>T (p.Gln316Ter)
|
rs776368825
|
|
NM_000153.4(GALC):c.952C>G (p.Pro318Ala)
|
rs1057516642
|
|
NM_000153.4(GALC):c.953C>G (p.Pro318Arg)
|
rs387906954
|
|
NM_000153.4(GALC):c.955del (p.Tyr319fs)
|
rs786204454
|
|
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer)
|
rs1057516808
|
|
NM_000153.4(GALC):c.9del (p.Glu3fs)
|
rs1555384380
|
|