NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)
|
rs376790302
|
0.00010
|
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)
|
rs375690568
|
0.00007
|
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)
|
rs371517491
|
0.00004
|
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)
|
rs754967473
|
0.00004
|
NM_000154.2(GALK1):c.94G>A (p.Val32Met)
|
rs104894576
|
0.00003
|
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)
|
rs759284637
|
0.00002
|
NM_000154.2(GALK1):c.166-1G>C
|
rs142772020
|
0.00001
|
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys)
|
rs1363497653
|
0.00001
|
NM_000154.2(GALK1):c.841G>A (p.Val281Met)
|
rs753571180
|
0.00001
|
NM_000154.2(GALK1):c.919_921del (p.Met307del)
|
rs1247635972
|
0.00001
|
NC_000017.10:g.(73754681_73758784)_(73761281_?)del
|
|
|
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter)
|
rs1026685248
|
|
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs)
|
rs771067891
|
|
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs)
|
rs2061563475
|
|
NM_000154.2(GALK1):c.1150G>C (p.Ala384Pro)
|
|
|
NM_000154.2(GALK1):c.130C>T (p.His44Tyr)
|
rs1555748926
|
|
NM_000154.2(GALK1):c.166-5_227dup
|
rs2143605351
|
|
NM_000154.2(GALK1):c.1A>C (p.Met1Leu)
|
rs1311294794
|
|
NM_000154.2(GALK1):c.205A>T (p.Lys69Ter)
|
|
|
NM_000154.2(GALK1):c.250G>T (p.Glu84Ter)
|
rs761638957
|
|
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter)
|
rs2143605190
|
|
NM_000154.2(GALK1):c.286C>T (p.Gln96Ter)
|
|
|
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
|
rs2061599016
|
|
NM_000154.2(GALK1):c.317G>A (p.Trp106Ter)
|
rs2061598873
|
|
NM_000154.2(GALK1):c.331A>T (p.Lys111Ter)
|
|
|
NM_000154.2(GALK1):c.350del (p.Tyr117fs)
|
|
|
NM_000154.2(GALK1):c.355+1G>A
|
|
|
NM_000154.2(GALK1):c.364del (p.Leu122fs)
|
rs2061596711
|
|
NM_000154.2(GALK1):c.403del (p.Leu135fs)
|
|
|
NM_000154.2(GALK1):c.410G>A (p.Gly137Asp)
|
rs915070690
|
|
NM_000154.2(GALK1):c.410del (p.Gly137fs)
|
rs767329054
|
|
NM_000154.2(GALK1):c.410dup (p.Gly138fs)
|
rs767329054
|
|
NM_000154.2(GALK1):c.425_426delinsT (p.Ser142fs)
|
|
|
NM_000154.2(GALK1):c.460C>T (p.Gln154Ter)
|
rs2143603585
|
|
NM_000154.2(GALK1):c.475+1G>A
|
|
|
NM_000154.2(GALK1):c.476-2A>G
|
|
|
NM_000154.2(GALK1):c.479C>A (p.Ser160Ter)
|
rs575077063
|
|
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter)
|
rs767799179
|
|
NM_000154.2(GALK1):c.520G>T (p.Glu174Ter)
|
|
|
NM_000154.2(GALK1):c.547_562del (p.Gly183fs)
|
|
|
NM_000154.2(GALK1):c.573del (p.Met192fs)
|
|
|
NM_000154.2(GALK1):c.580C>T (p.Gln194Ter)
|
|
|
NM_000154.2(GALK1):c.612-1G>A
|
rs1555748556
|
|
NM_000154.2(GALK1):c.612-1G>T
|
|
|
NM_000154.2(GALK1):c.686dup (p.His229fs)
|
|
|
NM_000154.2(GALK1):c.689_711dup (p.Val238fs)
|
rs1555748534
|
|
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
|
|
|
NM_000154.2(GALK1):c.738_739insCTTTCCTT (p.Ala247fs)
|
|
|
NM_000154.2(GALK1):c.775C>T (p.Gln259Ter)
|
rs1599335132
|
|
NM_000154.2(GALK1):c.784G>T (p.Glu262Ter)
|
rs2061592335
|
|
NM_000154.2(GALK1):c.793+2T>G
|
|
|
NM_000154.2(GALK1):c.79G>T (p.Glu27Ter)
|
rs1555748940
|
|
NM_000154.2(GALK1):c.808_809delinsA (p.Val270fs)
|
|
|
NM_000154.2(GALK1):c.818_819del (p.Glu273fs)
|
|
|
NM_000154.2(GALK1):c.847_860dup (p.Thr288fs)
|
|
|
NM_000154.2(GALK1):c.853_874del (p.Ile285fs)
|
rs770087254
|
|
NM_000154.2(GALK1):c.901A>T (p.Arg301Ter)
|
|
|
NM_000154.2(GALK1):c.944+1G>T
|
rs113464656
|
|
NM_000154.2(GALK1):c.945-36_992del
|
rs2143586633
|
|