NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_013339.4(ALG6):c.338G>A (p.Arg113His)
|
rs768372697
|
0.00006
|
NM_013339.4(ALG6):c.1A>G (p.Met1Val)
|
rs562934427
|
0.00004
|
NM_013339.4(ALG6):c.1249del (p.Gln417fs)
|
rs771069984
|
0.00003
|
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)
|
rs755933716
|
0.00003
|
NM_013339.4(ALG6):c.902+1G>A
|
rs1036516188
|
0.00003
|
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)
|
rs774242915
|
0.00002
|
NM_013339.4(ALG6):c.257+2dup
|
rs745426479
|
0.00002
|
NM_013339.4(ALG6):c.337C>T (p.Arg113Cys)
|
rs754672490
|
0.00002
|
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)
|
rs762643273
|
0.00001
|
NM_013339.4(ALG6):c.2T>C (p.Met1Thr)
|
rs1387214955
|
0.00001
|
NM_013339.4(ALG6):c.429+1G>T
|
rs781097055
|
0.00001
|
NM_013339.4(ALG6):c.495-2A>G
|
rs1227131990
|
0.00001
|
NM_013339.4(ALG6):c.680+1G>A
|
rs1253289234
|
0.00001
|
NM_013339.4(ALG6):c.680+2T>G
|
rs868768232
|
0.00001
|
NC_000001.10:g.(?_63867915)_(63868024_?)del
|
|
|
NC_000001.10:g.(?_63881705)_(63885042_?)del
|
|
|
NC_000001.11:g.(?_63396503)_(63396607_?)dup
|
|
|
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs)
|
rs1644562014
|
|
NM_013339.4(ALG6):c.1013T>A (p.Leu338Ter)
|
|
|
NM_013339.4(ALG6):c.1013del (p.Leu338fs)
|
|
|
NM_013339.4(ALG6):c.1018del (p.Ser340fs)
|
rs1269984067
|
|
NM_013339.4(ALG6):c.1058+1G>A
|
|
|
NM_013339.4(ALG6):c.1061C>T (p.Pro354Leu)
|
|
|
NM_013339.4(ALG6):c.1076T>A (p.Leu359Ter)
|
|
|
NM_013339.4(ALG6):c.1113del (p.Val372fs)
|
|
|
NM_013339.4(ALG6):c.1127+1G>A
|
rs1557597486
|
|
NM_013339.4(ALG6):c.1128-1G>A
|
rs1644631015
|
|
NM_013339.4(ALG6):c.1128-2A>C
|
rs1553156882
|
|
NM_013339.4(ALG6):c.1136del (p.Pro379fs)
|
rs1553156884
|
|
NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter)
|
|
|
NM_013339.4(ALG6):c.1167del (p.Ser390fs)
|
rs769698652
|
|
NM_013339.4(ALG6):c.1194_1195delinsG (p.Phe398fs)
|
rs1553156894
|
|
NM_013339.4(ALG6):c.1194dup (p.Ile399fs)
|
rs1207096732
|
|
NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs)
|
|
|
NM_013339.4(ALG6):c.1326+1G>A
|
|
|
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)
|
rs1553157428
|
|
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)
|
rs756566938
|
|
NM_013339.4(ALG6):c.168-1G>A
|
|
|
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)
|
rs780528545
|
|
NM_013339.4(ALG6):c.230_238delinsTCTCCTAT (p.Ala77fs)
|
|
|
NM_013339.4(ALG6):c.232del (p.Tyr78fs)
|
|
|
NM_013339.4(ALG6):c.257+2T>C
|
rs1644468935
|
|
NM_013339.4(ALG6):c.258-2A>C
|
rs2100415367
|
|
NM_013339.4(ALG6):c.258-9_267del
|
rs2100415350
|
|
NM_013339.4(ALG6):c.285_286insTATAAACTTT (p.Ala96fs)
|
|
|
NM_013339.4(ALG6):c.347-2A>G
|
|
|
NM_013339.4(ALG6):c.350T>A (p.Leu117Ter)
|
|
|
NM_013339.4(ALG6):c.428del (p.Lys143fs)
|
rs1471326272
|
|
NM_013339.4(ALG6):c.429+1G>A
|
|
|
NM_013339.4(ALG6):c.429+2T>C
|
|
|
NM_013339.4(ALG6):c.429+2T>G
|
rs1270337982
|
|
NM_013339.4(ALG6):c.430-2A>G
|
rs1553155565
|
|
NM_013339.4(ALG6):c.493del (p.Gln165fs)
|
|
|
NM_013339.4(ALG6):c.495-2A>T
|
rs1227131990
|
|
NM_013339.4(ALG6):c.506_507del (p.Val169fs)
|
rs1274913587
|
|
NM_013339.4(ALG6):c.536_537del (p.Leu179fs)
|
|
|
NM_013339.4(ALG6):c.57G>A (p.Trp19Ter)
|
|
|
NM_013339.4(ALG6):c.634dup (p.Cys212fs)
|
rs879133727
|
|
NM_013339.4(ALG6):c.654T>A (p.Cys218Ter)
|
|
|
NM_013339.4(ALG6):c.657del (p.Phe219fs)
|
|
|
NM_013339.4(ALG6):c.658A>T (p.Lys220Ter)
|
|
|
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs)
|
rs1553153399
|
|
NM_013339.4(ALG6):c.663del (p.Gly222fs)
|
|
|
NM_013339.4(ALG6):c.665_669dup (p.Lys224fs)
|
|
|
NM_013339.4(ALG6):c.670A>T (p.Lys224Ter)
|
|
|
NM_013339.4(ALG6):c.680+1G>T
|
|
|
NM_013339.4(ALG6):c.680+1del
|
|
|
NM_013339.4(ALG6):c.681-1G>T
|
|
|
NM_013339.4(ALG6):c.684del (p.Phe228fs)
|
rs2100421533
|
|
NM_013339.4(ALG6):c.732_748dup (p.Phe250fs)
|
rs1553155823
|
|
NM_013339.4(ALG6):c.738G>A (p.Trp246Ter)
|
|
|
NM_013339.4(ALG6):c.772C>T (p.Gln258Ter)
|
|
|
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer)
|
rs2100421727
|
|
NM_013339.4(ALG6):c.82+1G>A
|
|
|
NM_013339.4(ALG6):c.820A>T (p.Lys274Ter)
|
|
|
NM_013339.4(ALG6):c.82_82+8del
|
rs1424742651
|
|
NM_013339.4(ALG6):c.893T>A (p.Leu298Ter)
|
|
|
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)
|
rs387906338
|
|
NM_013339.4(ALG6):c.902+2dup
|
|
|
NM_013339.4(ALG6):c.920T>A (p.Leu307Ter)
|
rs1644543791
|
|
NM_013339.4(ALG6):c.924C>A (p.Ser308Arg)
|
|
|
NM_013339.4(ALG6):c.947T>G (p.Leu316Ter)
|
|
|
NM_013339.4(ALG6):c.947_950del (p.Leu316fs)
|
|
|
NM_013339.4(ALG6):c.987+1G>T
|
|
|
NM_013339.4(ALG6):c.988-1G>A
|
rs781473515
|
|