NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile)
|
rs761558985
|
0.00004
|
NM_153006.3(NAGS):c.739C>T (p.Gln247Ter)
|
rs748875458
|
0.00002
|
NM_153006.3(NAGS):c.1025del (p.Arg342fs)
|
rs730880266
|
0.00001
|
NM_153006.3(NAGS):c.1272C>G (p.Tyr424Ter)
|
rs1214956593
|
0.00001
|
NM_153006.3(NAGS):c.1037_1070del (p.His346fs)
|
|
|
NM_153006.3(NAGS):c.106_107del (p.Arg36fs)
|
rs2143978561
|
|
NM_153006.3(NAGS):c.1096+2T>G
|
rs2049097522
|
|
NM_153006.3(NAGS):c.1097-1G>C
|
rs2143989613
|
|
NM_153006.3(NAGS):c.1097-2A>G
|
rs2049106256
|
|
NM_153006.3(NAGS):c.1108del (p.Leu370fs)
|
|
|
NM_153006.3(NAGS):c.1114A>T (p.Lys372Ter)
|
rs2049106859
|
|
NM_153006.3(NAGS):c.111_120del (p.Arg38fs)
|
rs2143978628
|
|
NM_153006.3(NAGS):c.116_122dup (p.Arg41fs)
|
|
|
NM_153006.3(NAGS):c.1268+2T>C
|
rs202041339
|
|
NM_153006.3(NAGS):c.1272C>A (p.Tyr424Ter)
|
|
|
NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro)
|
rs104894605
|
|
NM_153006.3(NAGS):c.1299G>C (p.Glu433Asp)
|
rs104894607
|
|
NM_153006.3(NAGS):c.1302del (p.Val435fs)
|
|
|
NM_153006.3(NAGS):c.1307dup (p.Thr439fs)
|
rs730880303
|
|
NM_153006.3(NAGS):c.1313del (p.Gly438fs)
|
rs1597866458
|
|
NM_153006.3(NAGS):c.1313dup (p.Thr439fs)
|
rs1597866458
|
|
NM_153006.3(NAGS):c.1323C>G (p.Tyr441Ter)
|
rs886042831
|
|
NM_153006.3(NAGS):c.1328del (p.Asp443fs)
|
|
|
NM_153006.3(NAGS):c.134del (p.Pro45fs)
|
|
|
NM_153006.3(NAGS):c.138del (p.Arg47fs)
|
rs2143978844
|
|
NM_153006.3(NAGS):c.1450T>C (p.Trp484Arg)
|
rs104894606
|
|
NM_153006.3(NAGS):c.299C>A (p.Ser100Ter)
|
rs764150659
|
|
NM_153006.3(NAGS):c.310del (p.Arg104fs)
|
|
|
NM_153006.3(NAGS):c.339C>A (p.Cys113Ter)
|
|
|
NM_153006.3(NAGS):c.343del (p.Ala115fs)
|
|
|
NM_153006.3(NAGS):c.34del (p.Ala12fs)
|
rs2049059647
|
|
NM_153006.3(NAGS):c.368G>A (p.Trp123Ter)
|
rs2143980093
|
|
NM_153006.3(NAGS):c.376C>T (p.Gln126Ter)
|
|
|
NM_153006.3(NAGS):c.390C>A (p.Cys130Ter)
|
rs2143980228
|
|
NM_153006.3(NAGS):c.46del (p.Ala16fs)
|
rs2143978288
|
|
NM_153006.3(NAGS):c.535dup (p.Ala179fs)
|
|
|
NM_153006.3(NAGS):c.562dup (p.Ser188fs)
|
|
|
NM_153006.3(NAGS):c.569G>A (p.Trp190Ter)
|
rs2049079486
|
|
NM_153006.3(NAGS):c.570G>A (p.Trp190Ter)
|
rs755257734
|
|
NM_153006.3(NAGS):c.622C>T (p.Arg208Ter)
|
rs762205848
|
|
NM_153006.3(NAGS):c.654dup (p.Gly219fs)
|
|
|
NM_153006.3(NAGS):c.69_78del (p.Gly24fs)
|
rs2049060332
|
|
NM_153006.3(NAGS):c.724G>T (p.Glu242Ter)
|
rs2143984711
|
|
NM_153006.3(NAGS):c.777C>A (p.Cys259Ter)
|
rs2049086224
|
|
NM_153006.3(NAGS):c.835G>A (p.Ala279Thr)
|
rs121912591
|
|
NM_153006.3(NAGS):c.893del (p.Gly298fs)
|
rs2143985704
|
|
NM_153006.3(NAGS):c.916-2A>T
|
rs730880267
|
|
NM_153006.3(NAGS):c.92_119del (p.Leu31fs)
|
|
|
NM_153006.3(NAGS):c.971G>A (p.Trp324Ter)
|
rs104894604
|
|
NM_153006.3(NAGS):c.998_1016del (p.Met333fs)
|
|
|