NM_000154.2(GALK1):c.593C>T (p.Ala198Val)
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rs80084721
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0.00124
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NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)
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rs376790302
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0.00010
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NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter)
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rs111033608
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0.00009
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NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)
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rs375690568
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0.00007
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NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)
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rs371517491
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0.00004
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NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)
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rs754967473
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0.00004
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NM_000154.2(GALK1):c.94G>A (p.Val32Met)
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rs104894576
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0.00003
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NM_000154.2(GALK1):c.1059del (p.Thr354fs)
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rs2061564118
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0.00001
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NM_000154.2(GALK1):c.611+1G>T
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rs982043960
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0.00001
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NM_000154.2(GALK1):c.793+1G>T
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rs767790909
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0.00001
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NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)
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rs104894572
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0.00001
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NC_000017.10:g.(?_73753076)_(73754632_?)del
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|
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NC_000017.10:g.(?_73754127)_(73754690_?)del
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NC_000017.10:g.(?_73754127)_(73761239_?)del
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NC_000017.10:g.(?_73758775)_(73761239_?)del
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NC_000017.10:g.(?_73759968)_(73761239_?)del
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NM_000154.2(GALK1):c.1012dup (p.Val338fs)
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rs1555747776
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NM_000154.2(GALK1):c.102_103dup (p.Pro35fs)
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rs771067891
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NM_000154.2(GALK1):c.1055_1056del (p.Thr352fs)
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NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs)
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rs2061563475
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NM_000154.2(GALK1):c.1105C>T (p.Gln369Ter)
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|
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NM_000154.2(GALK1):c.1107+1G>A
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rs2143585254
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NM_000154.2(GALK1):c.162dup (p.Met55fs)
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rs2143608028
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NM_000154.2(GALK1):c.1A>G (p.Met1Val)
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NM_000154.2(GALK1):c.1A>T (p.Met1Leu)
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NM_000154.2(GALK1):c.202dup (p.Arg68fs)
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NM_000154.2(GALK1):c.206dup (p.Asp70fs)
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NM_000154.2(GALK1):c.238G>T (p.Glu80Ter)
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rs104894577
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NM_000154.2(GALK1):c.265C>T (p.Gln89Ter)
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rs2143605190
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NM_000154.2(GALK1):c.286C>T (p.Gln96Ter)
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|
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NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
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rs2061599016
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NM_000154.2(GALK1):c.327dup (p.Val110fs)
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|
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NM_000154.2(GALK1):c.364del (p.Leu122fs)
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rs2061596711
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NM_000154.2(GALK1):c.410del (p.Gly137fs)
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rs767329054
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NM_000154.2(GALK1):c.410dup (p.Gly138fs)
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rs767329054
|
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NM_000154.2(GALK1):c.416T>C (p.Leu139Pro)
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|
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NM_000154.2(GALK1):c.510T>A (p.Cys170Ter)
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rs775843885
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NM_000154.2(GALK1):c.514C>T (p.Gln172Ter)
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rs767799179
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NM_000154.2(GALK1):c.530del (p.Phe177fs)
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rs2061594762
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NM_000154.2(GALK1):c.609dup (p.Arg204fs)
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|
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NM_000154.2(GALK1):c.678del (p.Asn226fs)
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rs1568395061
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NM_000154.2(GALK1):c.67G>T (p.Glu23Ter)
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rs2143608501
|
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NM_000154.2(GALK1):c.6del (p.Ala3fs)
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rs2143608720
|
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NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
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|
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NM_000154.2(GALK1):c.710del (p.Pro237fs)
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rs773559496
|
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NM_000154.2(GALK1):c.761del (p.Ser254fs)
|
rs1599335144
|
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NM_000154.2(GALK1):c.768_769dup (p.Glu257fs)
|
rs2143601360
|
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NM_000154.2(GALK1):c.781del (p.Glu261fs)
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NM_000154.2(GALK1):c.793+2T>C
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NM_000154.2(GALK1):c.793+2T>G
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NM_000154.2(GALK1):c.837_841dup (p.Val281fs)
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NM_000154.2(GALK1):c.83_84dup (p.Glu29fs)
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NM_000154.2(GALK1):c.853_874del (p.Ile285fs)
|
rs770087254
|
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NM_000154.2(GALK1):c.860_881del (p.Arg287fs)
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|
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NM_000154.2(GALK1):c.868C>T (p.Gln290Ter)
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NM_000154.2(GALK1):c.900_902del (p.Tyr300_Arg301delinsTer)
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NM_000154.2(GALK1):c.953_954del (p.Asp317_Tyr318insTer)
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NM_000154.2(GALK1):c.954T>A (p.Tyr318Ter)
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NM_000154.2(GALK1):c.98C>G (p.Ser33Ter)
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