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.1249del (p.Gln417fs)
|
rs771069984
|
0.00003
|
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)
|
rs755933716
|
0.00003
|
NM_013339.4(ALG6):c.998C>T (p.Ala333Val)
|
rs121908443
|
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.250G>A (p.Ala84Thr)
|
rs762643273
|
0.00001
|
NM_013339.4(ALG6):c.510del (p.Gly172fs)
|
rs773277552
|
0.00001
|
NM_013339.4(ALG6):c.680+1G>A
|
rs1253289234
|
0.00001
|
NM_013339.4(ALG6):c.680+2T>G
|
rs868768232
|
0.00001
|
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)
|
rs372079206
|
0.00001
|
NC_000001.10:g.(?_63836639)_(63902701_?)del
|
|
|
NC_000001.10:g.(?_63836649)_(63836750_?)del
|
|
|
NC_000001.10:g.(?_63867905)_(63902691_?)del
|
|
|
NC_000001.10:g.(?_63885021)_(63885131_?)del
|
|
|
NC_000001.11:g.(?_63428723)_(63429136_?)del
|
|
|
NM_013339.4(ALG6):c.1000delinsGG (p.Leu334fs)
|
|
|
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs)
|
rs1644562014
|
|
NM_013339.4(ALG6):c.100_101del (p.Met34fs)
|
|
|
NM_013339.4(ALG6):c.1018del (p.Ser340fs)
|
rs1269984067
|
|
NM_013339.4(ALG6):c.1029dup (p.His344fs)
|
|
|
NM_013339.4(ALG6):c.1072_1076del (p.Val358fs)
|
|
|
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.1171_1172del (p.Val391fs)
|
rs2100440701
|
|
NM_013339.4(ALG6):c.1194dup (p.Ile399fs)
|
rs1207096732
|
|
NM_013339.4(ALG6):c.121C>T (p.Gln41Ter)
|
rs759308812
|
|
NM_013339.4(ALG6):c.1228_1229del (p.Lys410fs)
|
|
|
NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs)
|
|
|
NM_013339.4(ALG6):c.1249C>T (p.Gln417Ter)
|
rs1644631921
|
|
NM_013339.4(ALG6):c.12G>A (p.Trp4Ter)
|
|
|
NM_013339.4(ALG6):c.1308del (p.Arg437fs)
|
|
|
NM_013339.4(ALG6):c.1326+1G>A
|
|
|
NM_013339.4(ALG6):c.1326+1G>T
|
rs1475789647
|
|
NM_013339.4(ALG6):c.1338dup (p.Val447fs)
|
rs1644681692
|
|
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)
|
rs1553157428
|
|
NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro)
|
rs121908444
|
|
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)
|
rs756566938
|
|
NM_013339.4(ALG6):c.147del (p.Phe49fs)
|
|
|
NM_013339.4(ALG6):c.167+5G>A
|
rs1557585860
|
|
NM_013339.4(ALG6):c.168G>A (p.Trp56Ter)
|
|
|
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)
|
rs780528545
|
|
NM_013339.4(ALG6):c.171T>G (p.Tyr57Ter)
|
rs780528545
|
|
NM_013339.4(ALG6):c.226dup (p.Thr76fs)
|
|
|
NM_013339.4(ALG6):c.254_255del (p.Tyr85fs)
|
rs2100412885
|
|
NM_013339.4(ALG6):c.281G>A (p.Trp94Ter)
|
|
|
NM_013339.4(ALG6):c.290del (p.Leu97fs)
|
rs1644480895
|
|
NM_013339.4(ALG6):c.316C>T (p.Gln106Ter)
|
rs1240285695
|
|
NM_013339.4(ALG6):c.352del (p.Ile118fs)
|
|
|
NM_013339.4(ALG6):c.399T>A (p.Cys133Ter)
|
|
|
NM_013339.4(ALG6):c.409G>T (p.Glu137Ter)
|
rs2100417039
|
|
NM_013339.4(ALG6):c.428del (p.Lys143fs)
|
rs1471326272
|
|
NM_013339.4(ALG6):c.443dup (p.Leu148fs)
|
|
|
NM_013339.4(ALG6):c.452del (p.Leu151fs)
|
rs1349358854
|
|
NM_013339.4(ALG6):c.484_485insA (p.Gly162fs)
|
rs2100417620
|
|
NM_013339.4(ALG6):c.492dup (p.Gln165fs)
|
rs1644493041
|
|
NM_013339.4(ALG6):c.493C>T (p.Gln165Ter)
|
|
|
NM_013339.4(ALG6):c.498T>G (p.Tyr166Ter)
|
|
|
NM_013339.4(ALG6):c.506_507del (p.Val169fs)
|
rs1274913587
|
|
NM_013339.4(ALG6):c.527G>A (p.Trp176Ter)
|
|
|
NM_013339.4(ALG6):c.574del (p.Ala192fs)
|
rs2100420854
|
|
NM_013339.4(ALG6):c.634del (p.Cys212fs)
|
rs879133727
|
|
NM_013339.4(ALG6):c.634dup (p.Cys212fs)
|
rs879133727
|
|
NM_013339.4(ALG6):c.642del (p.Leu214fs)
|
|
|
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs)
|
rs1553153399
|
|
NM_013339.4(ALG6):c.663dup (p.Gly222fs)
|
|
|
NM_013339.4(ALG6):c.684del (p.Phe228fs)
|
rs2100421533
|
|
NM_013339.4(ALG6):c.714del (p.Val239fs)
|
|
|
NM_013339.4(ALG6):c.723del (p.Phe242fs)
|
rs755112036
|
|
NM_013339.4(ALG6):c.737G>A (p.Trp246Ter)
|
|
|
NM_013339.4(ALG6):c.789_790del (p.Phe264fs)
|
rs767943869
|
|
NM_013339.4(ALG6):c.791del (p.Phe264fs)
|
rs2100421716
|
|
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer)
|
rs2100421727
|
|
NM_013339.4(ALG6):c.798_804dup (p.Gly269Ter)
|
|
|
NM_013339.4(ALG6):c.835del (p.Trp279fs)
|
rs2100423312
|
|
NM_013339.4(ALG6):c.849del (p.Asn283fs)
|
rs1644530448
|
|
NM_013339.4(ALG6):c.889C>T (p.Gln297Ter)
|
|
|
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)
|
rs387906338
|
|
NM_013339.4(ALG6):c.920T>A (p.Leu307Ter)
|
rs1644543791
|
|
NM_013339.4(ALG6):c.974_984del (p.Phe325fs)
|
|
|