NM_001611.5(ACP5):c.442G>A (p.Val148Met)
|
rs2305799
|
0.09611
|
NM_001611.5(ACP5):c.225C>T (p.Phe75=)
|
rs62638747
|
0.09420
|
NM_001611.5(ACP5):c.598G>A (p.Val200Met)
|
rs2229531
|
0.08684
|
NM_001611.5(ACP5):c.661G>A (p.Val221Ile)
|
rs2229532
|
0.03835
|
NM_001611.5(ACP5):c.855T>C (p.Thr285=)
|
rs77911902
|
0.03530
|
NM_001611.5(ACP5):c.276C>T (p.Asp92=)
|
rs34375794
|
0.00599
|
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)
|
rs147025508
|
0.00338
|
NM_001611.5(ACP5):c.955C>T (p.Leu319=)
|
rs141909893
|
0.00193
|
NM_001611.5(ACP5):c.390-11C>G
|
rs182019242
|
0.00183
|
NM_001611.5(ACP5):c.860A>C (p.Asp287Ala)
|
rs62638748
|
0.00170
|
NM_001611.5(ACP5):c.861C>T (p.Asp287=)
|
rs147115345
|
0.00128
|
NM_001611.5(ACP5):c.299G>A (p.Arg100His)
|
rs141651325
|
0.00096
|
NM_001611.5(ACP5):c.805C>T (p.Arg269Trp)
|
rs199986980
|
0.00048
|
NM_001611.5(ACP5):c.544C>T (p.Arg182Cys)
|
rs202169550
|
0.00047
|
NM_001611.5(ACP5):c.30G>T (p.Leu10=)
|
rs139654624
|
0.00022
|
NM_001611.5(ACP5):c.597C>T (p.Tyr199=)
|
rs750930124
|
0.00020
|
NM_001611.5(ACP5):c.601C>T (p.Leu201=)
|
rs568957938
|
0.00018
|
NM_001611.5(ACP5):c.316G>A (p.Val106Met)
|
rs148219285
|
0.00016
|
NM_001611.5(ACP5):c.17C>T (p.Ala6Val)
|
rs182776939
|
0.00015
|
NM_001611.5(ACP5):c.413G>A (p.Arg138His)
|
rs143362935
|
0.00015
|
NM_001611.5(ACP5):c.132G>A (p.Thr44=)
|
rs150582430
|
0.00014
|
NM_001611.5(ACP5):c.15G>T (p.Thr5=)
|
rs772911511
|
0.00010
|
NM_001611.5(ACP5):c.694G>A (p.Gly232Arg)
|
rs374180791
|
0.00010
|
NM_001611.5(ACP5):c.971G>A (p.Arg324Lys)
|
rs145265651
|
0.00010
|
NM_001611.5(ACP5):c.149A>G (p.Asn50Ser)
|
rs189825826
|
0.00009
|
NM_001611.5(ACP5):c.421T>G (p.Phe141Val)
|
rs201716955
|
0.00009
|
NM_001611.5(ACP5):c.815G>A (p.Arg272His)
|
rs150107007
|
0.00009
|
NM_001611.5(ACP5):c.290G>A (p.Arg97His)
|
rs777140546
|
0.00008
|
NM_001611.5(ACP5):c.582G>A (p.Ala194=)
|
rs367699467
|
0.00007
|
NM_001611.5(ACP5):c.720C>T (p.His240=)
|
rs374919506
|
0.00007
|
NM_001611.5(ACP5):c.80G>A (p.Arg27His)
|
rs376043348
|
0.00007
|
NM_001611.5(ACP5):c.673C>T (p.Arg225Trp)
|
rs765756315
|
0.00006
|
NM_001611.5(ACP5):c.783G>A (p.Gly261=)
|
rs141519703
|
0.00006
|
NM_001611.5(ACP5):c.806G>A (p.Arg269Gln)
|
rs749985898
|
0.00006
|
NM_001611.5(ACP5):c.131C>T (p.Thr44Met)
|
rs369804864
|
0.00005
|
NM_001611.5(ACP5):c.545G>A (p.Arg182His)
|
rs778805198
|
0.00005
|
NM_001611.5(ACP5):c.757G>A (p.Val253Met)
|
rs371116310
|
0.00005
|
NM_001611.5(ACP5):c.137G>A (p.Arg46Gln)
|
rs201184983
|
0.00004
|
NM_001611.5(ACP5):c.166C>T (p.Arg56Trp)
|
rs371591030
|
0.00004
|
NM_001611.5(ACP5):c.167G>A (p.Arg56Gln)
|
rs922892618
|
0.00004
|
NM_001611.5(ACP5):c.386G>A (p.Arg129His)
|
rs199580546
|
0.00004
|
NM_001611.5(ACP5):c.389+15G>T
|
rs562918956
|
0.00004
|
NM_001611.5(ACP5):c.636C>T (p.Ala212=)
|
rs368852148
|
0.00004
|
NM_001611.5(ACP5):c.964C>T (p.Arg322Ter)
|
rs146436811
|
0.00004
|
NM_001611.5(ACP5):c.973C>T (p.Pro325Ser)
|
rs1024960552
|
0.00004
|
NM_001611.5(ACP5):c.136C>T (p.Arg46Trp)
|
rs780116316
|
0.00003
|
NM_001611.5(ACP5):c.238G>A (p.Asp80Asn)
|
rs528748445
|
0.00003
|
NM_001611.5(ACP5):c.277G>A (p.Val93Ile)
|
rs568576678
|
0.00003
|
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)
|
rs781050795
|
0.00003
|
NM_001611.5(ACP5):c.495T>C (p.Asp165=)
|
rs757465602
|
0.00003
|
NM_001611.5(ACP5):c.527G>A (p.Arg176Gln)
|
rs774878498
|
0.00003
|
NM_001611.5(ACP5):c.621C>T (p.Pro207=)
|
rs372107388
|
0.00003
|
NM_001611.5(ACP5):c.637G>C (p.Glu213Gln)
|
rs142179752
|
0.00003
|
NM_001611.5(ACP5):c.642C>T (p.His214=)
|
rs748235353
|
0.00003
|
NM_001611.5(ACP5):c.652C>T (p.His218Tyr)
|
rs148656335
|
0.00003
|
NM_001611.5(ACP5):c.714C>T (p.Cys238=)
|
rs199512530
|
0.00003
|
NM_001611.5(ACP5):c.79C>T (p.Arg27Cys)
|
rs369579418
|
0.00003
|
NM_001611.5(ACP5):c.828C>T (p.Asn276=)
|
rs371003771
|
0.00003
|
NM_001611.5(ACP5):c.829G>A (p.Gly277Ser)
|
rs377528244
|
0.00003
|
NM_001611.5(ACP5):c.249C>G (p.Asp83Glu)
|
rs563929774
|
0.00002
|
NM_001611.5(ACP5):c.261+6T>C
|
rs775396112
|
0.00002
|
NM_001611.5(ACP5):c.262-20G>A
|
rs200885075
|
0.00002
|
NM_001611.5(ACP5):c.289C>T (p.Arg97Cys)
|
rs1231519014
|
0.00002
|
NM_001611.5(ACP5):c.315C>T (p.Tyr105=)
|
rs2229530
|
0.00002
|
NM_001611.5(ACP5):c.434A>T (p.Gln145Leu)
|
rs776392911
|
0.00002
|
NM_001611.5(ACP5):c.477A>C (p.Thr159=)
|
rs147105591
|
0.00002
|
NM_001611.5(ACP5):c.480A>G (p.Leu160=)
|
rs373684791
|
0.00002
|
NM_001611.5(ACP5):c.526C>T (p.Arg176Ter)
|
rs1025967277
|
0.00002
|
NM_001611.5(ACP5):c.581C>T (p.Ala194Val)
|
rs755385110
|
0.00002
|
NM_001611.5(ACP5):c.622G>A (p.Val208Met)
|
rs535257196
|
0.00002
|
NM_001611.5(ACP5):c.715G>A (p.Gly239Ser)
|
rs762775321
|
0.00002
|
NM_001611.5(ACP5):c.839G>A (p.Arg280His)
|
rs771458690
|
0.00002
|
NM_001611.5(ACP5):c.872G>A (p.Gly291Asp)
|
rs913182619
|
0.00002
|
NM_001611.5(ACP5):c.950C>G (p.Thr317Ser)
|
rs375523195
|
0.00002
|
NM_001611.5(ACP5):c.959C>T (p.Pro320Leu)
|
rs745604493
|
0.00002
|
NM_001611.5(ACP5):c.14C>T (p.Thr5Met)
|
rs556637113
|
0.00001
|
NM_001611.5(ACP5):c.163G>A (p.Ala55Thr)
|
rs529545521
|
0.00001
|
NM_001611.5(ACP5):c.245A>G (p.Asn82Ser)
|
rs202233676
|
0.00001
|
NM_001611.5(ACP5):c.262-15A>G
|
rs200250079
|
0.00001
|
NM_001611.5(ACP5):c.279A>G (p.Val93=)
|
rs1351504233
|
0.00001
|
NM_001611.5(ACP5):c.327A>G (p.Gly109=)
|
rs1973176548
|
0.00001
|
NM_001611.5(ACP5):c.334G>A (p.Asp112Asn)
|
rs1252610234
|
0.00001
|
NM_001611.5(ACP5):c.369C>A (p.Tyr123Ter)
|
rs747619825
|
0.00001
|
NM_001611.5(ACP5):c.375_376insTA (p.Ile126Ter)
|
rs1171155255
|
0.00001
|
NM_001611.5(ACP5):c.383A>G (p.Lys128Arg)
|
rs750563102
|
0.00001
|
NM_001611.5(ACP5):c.393C>G (p.Asn131Lys)
|
rs767853623
|
0.00001
|
NM_001611.5(ACP5):c.410A>G (p.Tyr137Cys)
|
rs760044774
|
0.00001
|
NM_001611.5(ACP5):c.469A>G (p.Thr157Ala)
|
rs1399049173
|
0.00001
|
NM_001611.5(ACP5):c.47C>A (p.Pro16His)
|
rs201047202
|
0.00001
|
NM_001611.5(ACP5):c.522G>A (p.Arg174=)
|
rs376767095
|
0.00001
|
NM_001611.5(ACP5):c.542C>A (p.Ala181Asp)
|
rs745457954
|
0.00001
|
NM_001611.5(ACP5):c.579G>A (p.Ala193=)
|
rs752926629
|
0.00001
|
NM_001611.5(ACP5):c.632T>C (p.Ile211Thr)
|
rs770788576
|
0.00001
|
NM_001611.5(ACP5):c.643G>A (p.Gly215Arg)
|
rs781199182
|
0.00001
|
NM_001611.5(ACP5):c.646C>A (p.Pro216Thr)
|
rs1372135711
|
0.00001
|
NM_001611.5(ACP5):c.693C>T (p.Tyr231=)
|
rs373030121
|
0.00001
|
NM_001611.5(ACP5):c.735+18G>A
|
rs1413963470
|
0.00001
|
NM_001611.5(ACP5):c.735+7G>T
|
rs1484884500
|
0.00001
|
NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter)
|
rs761798208
|
0.00001
|
NM_001611.5(ACP5):c.756C>T (p.Gly252=)
|
rs139096747
|
0.00001
|
NM_001611.5(ACP5):c.758T>C (p.Val253Ala)
|
rs775386822
|
0.00001
|
NM_001611.5(ACP5):c.765C>T (p.Tyr255=)
|
rs549955384
|
0.00001
|
NM_001611.5(ACP5):c.777G>T (p.Gly259=)
|
rs368442469
|
0.00001
|
NM_001611.5(ACP5):c.791T>A (p.Met264Lys)
|
rs387906670
|
0.00001
|
NM_001611.5(ACP5):c.799del (p.Ser267fs)
|
rs1294990891
|
0.00001
|
NM_001611.5(ACP5):c.831_833del (p.Tyr278del)
|
rs387906671
|
0.00001
|
NM_001611.5(ACP5):c.832T>C (p.Tyr278His)
|
rs1248410622
|
0.00001
|
NM_001611.5(ACP5):c.854C>T (p.Thr285Ile)
|
rs1369048725
|
0.00001
|
NM_001611.5(ACP5):c.91G>A (p.Val31Met)
|
rs765947561
|
0.00001
|
NC_000019.10:g.(?_11574990)_(11577337_?)dup
|
|
|
NC_000019.9:g.(?_11685805)_(11688152_?)del
|
|
|
NC_000019.9:g.(?_11685825)_(11688132_?)del
|
|
|
NM_001611.5(ACP5):c.109G>A (p.Val37Ile)
|
|
|
NM_001611.5(ACP5):c.130A>G (p.Thr44Ala)
|
|
|
NM_001611.5(ACP5):c.132G>C (p.Thr44=)
|
|
|
NM_001611.5(ACP5):c.136del (p.Arg46fs)
|
rs2145093044
|
|
NM_001611.5(ACP5):c.13A>G (p.Thr5Ala)
|
rs2145093839
|
|
NM_001611.5(ACP5):c.144G>A (p.Met48Ile)
|
|
|
NM_001611.5(ACP5):c.152C>A (p.Ala51Asp)
|
|
|
NM_001611.5(ACP5):c.15G>A (p.Thr5=)
|
rs772911511
|
|
NM_001611.5(ACP5):c.16G>A (p.Ala6Thr)
|
rs1599637550
|
|
NM_001611.5(ACP5):c.188C>T (p.Ala63Val)
|
|
|
NM_001611.5(ACP5):c.18G>A (p.Ala6=)
|
|
|
NM_001611.5(ACP5):c.191A>G (p.Asp64Gly)
|
rs765370739
|
|
NM_001611.5(ACP5):c.1A>G (p.Met1Val)
|
rs2145093934
|
|
NM_001611.5(ACP5):c.222C>A (p.Tyr74Ter)
|
rs965741395
|
|
NM_001611.5(ACP5):c.257del (p.Phe86fs)
|
rs2145092503
|
|
NM_001611.5(ACP5):c.259del (p.Gln87fs)
|
rs2145092472
|
|
NM_001611.5(ACP5):c.261+13C>T
|
|
|
NM_001611.5(ACP5):c.261+14A>T
|
|
|
NM_001611.5(ACP5):c.262-13_262-12del
|
|
|
NM_001611.5(ACP5):c.262-14T>C
|
rs1973181435
|
|
NM_001611.5(ACP5):c.262-15_262-12del
|
|
|
NM_001611.5(ACP5):c.266C>T (p.Thr89Ile)
|
rs387906668
|
|
NM_001611.5(ACP5):c.266_272del (p.Thr89fs)
|
rs2145091349
|
|
NM_001611.5(ACP5):c.28C>T (p.Leu10=)
|
|
|
NM_001611.5(ACP5):c.298C>T (p.Arg100Cys)
|
|
|
NM_001611.5(ACP5):c.309C>T (p.Pro103=)
|
|
|
NM_001611.5(ACP5):c.324C>T (p.Ala108=)
|
|
|
NM_001611.5(ACP5):c.329A>T (p.Asn110Ile)
|
|
|
NM_001611.5(ACP5):c.330C>T (p.Asn110=)
|
rs2145090965
|
|
NM_001611.5(ACP5):c.331C>T (p.His111Tyr)
|
rs1195620494
|
|
NM_001611.5(ACP5):c.332A>G (p.His111Arg)
|
|
|
NM_001611.5(ACP5):c.333T>C (p.His111=)
|
|
|
NM_001611.5(ACP5):c.340C>T (p.Leu114Phe)
|
rs763172932
|
|
NM_001611.5(ACP5):c.351C>A (p.Val117=)
|
|
|
NM_001611.5(ACP5):c.351C>T (p.Val117=)
|
rs2145090791
|
|
NM_001611.5(ACP5):c.354T>C (p.Ser118=)
|
rs1337015672
|
|
NM_001611.5(ACP5):c.361del (p.Ile121fs)
|
rs749753832
|
|
NM_001611.5(ACP5):c.362T>C (p.Ile121Thr)
|
|
|
NM_001611.5(ACP5):c.366A>C (p.Ala122=)
|
|
|
NM_001611.5(ACP5):c.372_373insC (p.Lys125fs)
|
|
|
NM_001611.5(ACP5):c.372dup (p.Lys125Ter)
|
|
|
NM_001611.5(ACP5):c.381C>T (p.Ser127=)
|
rs2145090669
|
|
NM_001611.5(ACP5):c.385C>T (p.Arg129Cys)
|
|
|
NM_001611.5(ACP5):c.389+13C>T
|
|
|
NM_001611.5(ACP5):c.389+17C>T
|
|
|
NM_001611.5(ACP5):c.389+9C>T
|
|
|
NM_001611.5(ACP5):c.390-11C>T
|
rs182019242
|
|
NM_001611.5(ACP5):c.390-17C>T
|
|
|
NM_001611.5(ACP5):c.398C>G (p.Pro133Arg)
|
rs1243676385
|
|
NM_001611.5(ACP5):c.39G>A (p.Leu13=)
|
|
|
NM_001611.5(ACP5):c.406T>C (p.Phe136Leu)
|
rs2145089685
|
|
NM_001611.5(ACP5):c.412C>T (p.Arg138Cys)
|
|
|
NM_001611.5(ACP5):c.417G>A (p.Leu139=)
|
rs2145089622
|
|
NM_001611.5(ACP5):c.418C>T (p.His140Tyr)
|
rs2145089608
|
|
NM_001611.5(ACP5):c.420C>T (p.His140=)
|
rs1281816540
|
|
NM_001611.5(ACP5):c.433C>T (p.Gln145Ter)
|
|
|
NM_001611.5(ACP5):c.438C>T (p.Thr146=)
|
rs2145089524
|
|
NM_001611.5(ACP5):c.44_65del (p.Leu15fs)
|
rs1973203506
|
|
NM_001611.5(ACP5):c.459T>C (p.Phe153=)
|
|
|
NM_001611.5(ACP5):c.46C>A (p.Pro16Thr)
|
rs2145093640
|
|
NM_001611.5(ACP5):c.500T>C (p.Phe167Ser)
|
rs764197394
|
|
NM_001611.5(ACP5):c.510G>A (p.Gln170=)
|
|
|
NM_001611.5(ACP5):c.516T>A (p.Pro172=)
|
rs887425978
|
|
NM_001611.5(ACP5):c.517G>A (p.Glu173Lys)
|
rs1973158210
|
|
NM_001611.5(ACP5):c.51C>A (p.Ser17=)
|
|
|
NM_001611.5(ACP5):c.520A>G (p.Arg174Gly)
|
|
|
NM_001611.5(ACP5):c.526del (p.Arg176fs)
|
rs2145089035
|
|
NM_001611.5(ACP5):c.529G>A (p.Asp177Asn)
|
rs766846705
|
|
NM_001611.5(ACP5):c.531C>T (p.Asp177=)
|
|
|
NM_001611.5(ACP5):c.532G>A (p.Val178Met)
|
|
|
NM_001611.5(ACP5):c.543C>A (p.Ala181=)
|
rs139822120
|
|
NM_001611.5(ACP5):c.548C>G (p.Thr183Arg)
|
rs371719196
|
|
NM_001611.5(ACP5):c.550C>T (p.Gln184Ter)
|
|
|
NM_001611.5(ACP5):c.567G>T (p.Lys189Asn)
|
|
|
NM_001611.5(ACP5):c.56C>T (p.Ala19Val)
|
|
|
NM_001611.5(ACP5):c.570A>T (p.Lys190Asn)
|
|
|
NM_001611.5(ACP5):c.578C>A (p.Ala193Glu)
|
rs756201795
|
|
NM_001611.5(ACP5):c.578C>T (p.Ala193Val)
|
|
|
NM_001611.5(ACP5):c.583G>A (p.Ala195Thr)
|
|
|
NM_001611.5(ACP5):c.584C>G (p.Ala195Gly)
|
|
|
NM_001611.5(ACP5):c.585C>G (p.Ala195=)
|
rs766688951
|
|
NM_001611.5(ACP5):c.587G>A (p.Arg196Lys)
|
rs1599634603
|
|
NM_001611.5(ACP5):c.5A>C (p.Asp2Ala)
|
|
|
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro)
|
rs387906672
|
|
NM_001611.5(ACP5):c.604G>C (p.Val202Leu)
|
rs1188745377
|
|
NM_001611.5(ACP5):c.60T>C (p.Asp20=)
|
|
|
NM_001611.5(ACP5):c.611G>A (p.Gly204Asp)
|
rs775336126
|
|
NM_001611.5(ACP5):c.612C>A (p.Gly204=)
|
|
|
NM_001611.5(ACP5):c.613C>T (p.His205Tyr)
|
|
|
NM_001611.5(ACP5):c.617A>G (p.Tyr206Cys)
|
|
|
NM_001611.5(ACP5):c.618C>A (p.Tyr206Ter)
|
|
|
NM_001611.5(ACP5):c.619C>A (p.Pro207Thr)
|
rs1973150471
|
|
NM_001611.5(ACP5):c.61G>C (p.Gly21Arg)
|
rs757630659
|
|
NM_001611.5(ACP5):c.622G>C (p.Val208Leu)
|
|
|
NM_001611.5(ACP5):c.622G>T (p.Val208Leu)
|
|
|
NM_001611.5(ACP5):c.625_626del (p.Trp209fs)
|
rs1599634435
|
|
NM_001611.5(ACP5):c.628_634delinsCCTACC (p.Ser210fs)
|
|
|
NM_001611.5(ACP5):c.637G>A (p.Glu213Lys)
|
|
|
NM_001611.5(ACP5):c.643G>C (p.Gly215Arg)
|
rs781199182
|
|
NM_001611.5(ACP5):c.651C>A (p.Thr217=)
|
|
|
NM_001611.5(ACP5):c.654_658del (p.Cys219fs)
|
|
|
NM_001611.5(ACP5):c.658C>T (p.Leu220=)
|
|
|
NM_001611.5(ACP5):c.660G>C (p.Leu220=)
|
rs1433238601
|
|
NM_001611.5(ACP5):c.663C>G (p.Val221=)
|
rs2145088053
|
|
NM_001611.5(ACP5):c.667C>T (p.Gln223Ter)
|
rs387906669
|
|
NM_001611.5(ACP5):c.670C>T (p.Leu224=)
|
|
|
NM_001611.5(ACP5):c.672_673inv (p.Arg225Trp)
|
|
|
NM_001611.5(ACP5):c.678A>C (p.Pro226=)
|
rs1257952148
|
|
NM_001611.5(ACP5):c.682C>G (p.Leu228Val)
|
rs142623076
|
|
NM_001611.5(ACP5):c.68C>T (p.Thr23Ile)
|
rs939236666
|
|
NM_001611.5(ACP5):c.69C>T (p.Thr23=)
|
|
|
NM_001611.5(ACP5):c.702T>G (p.Thr234=)
|
|
|
NM_001611.5(ACP5):c.710_718del (p.Leu237_Gly239del)
|
|
|
NM_001611.5(ACP5):c.712T>C (p.Cys238Arg)
|
rs2145087756
|
|
NM_001611.5(ACP5):c.721G>A (p.Asp241Asn)
|
rs2145087630
|
|
NM_001611.5(ACP5):c.730C>T (p.Leu244=)
|
|
|
NM_001611.5(ACP5):c.731T>C (p.Leu244Pro)
|
rs1453335064
|
|
NM_001611.5(ACP5):c.733C>T (p.Gln245Ter)
|
rs1973142593
|
|
NM_001611.5(ACP5):c.735+10del
|
|
|
NM_001611.5(ACP5):c.735+13T>A
|
|
|
NM_001611.5(ACP5):c.735+14G>A
|
|
|
NM_001611.5(ACP5):c.735+15G>C
|
|
|
NM_001611.5(ACP5):c.735+8C>A
|
|
|
NM_001611.5(ACP5):c.735+8C>T
|
rs781252304
|
|
NM_001611.5(ACP5):c.736-2A>G
|
rs1973089024
|
|
NM_001611.5(ACP5):c.736-3C>T
|
rs773090099
|
|
NM_001611.5(ACP5):c.736-6C>T
|
|
|
NM_001611.5(ACP5):c.736-7T>A
|
rs766031438
|
|
NM_001611.5(ACP5):c.738C>T (p.Tyr246=)
|
|
|
NM_001611.5(ACP5):c.755G>A (p.Gly252Asp)
|
|
|
NM_001611.5(ACP5):c.759G>A (p.Val253=)
|
|
|
NM_001611.5(ACP5):c.766G>A (p.Val256Met)
|
rs146196342
|
|
NM_001611.5(ACP5):c.766G>C (p.Val256Leu)
|
rs146196342
|
|
NM_001611.5(ACP5):c.772_790del (p.Ser258fs)
|
rs878853218
|
|
NM_001611.5(ACP5):c.775G>A (p.Gly259Arg)
|
rs2145082240
|
|
NM_001611.5(ACP5):c.780T>C (p.Ala260=)
|
rs2145082207
|
|
NM_001611.5(ACP5):c.781G>T (p.Gly261Trp)
|
rs2145082191
|
|
NM_001611.5(ACP5):c.802A>G (p.Lys268Glu)
|
|
|
NM_001611.5(ACP5):c.804G>T (p.Lys268Asn)
|
rs1973084550
|
|
NM_001611.5(ACP5):c.807G>A (p.Arg269=)
|
|
|
NM_001611.5(ACP5):c.816dup (p.Lys273fs)
|
rs879255600
|
|
NM_001611.5(ACP5):c.822C>G (p.Val274=)
|
|
|
NM_001611.5(ACP5):c.824C>T (p.Pro275Leu)
|
rs1973082559
|
|
NM_001611.5(ACP5):c.825C>A (p.Pro275=)
|
rs760569679
|
|
NM_001611.5(ACP5):c.838C>T (p.Arg280Cys)
|
rs774428695
|
|
NM_001611.5(ACP5):c.846C>G (p.His282Gln)
|
rs749645391
|
|
NM_001611.5(ACP5):c.848A>G (p.Tyr283Cys)
|
rs931778512
|
|
NM_001611.5(ACP5):c.851G>A (p.Gly284Glu)
|
rs1973079948
|
|
NM_001611.5(ACP5):c.85G>A (p.Val29Ile)
|
rs1297907616
|
|
NM_001611.5(ACP5):c.870T>C (p.Gly290=)
|
|
|
NM_001611.5(ACP5):c.871G>C (p.Gly291Arg)
|
rs752091275
|
|
NM_001611.5(ACP5):c.8T>C (p.Met3Thr)
|
|
|
NM_001611.5(ACP5):c.902A>G (p.Glu301Gly)
|
|
|
NM_001611.5(ACP5):c.909T>C (p.Thr303=)
|
rs2145081214
|
|
NM_001611.5(ACP5):c.90C>T (p.Ala30=)
|
|
|
NM_001611.5(ACP5):c.914C>T (p.Thr305Ile)
|
rs2145081185
|
|
NM_001611.5(ACP5):c.919A>T (p.Ile307Phe)
|
rs1483232010
|
|
NM_001611.5(ACP5):c.920T>A (p.Ile307Asn)
|
|
|
NM_001611.5(ACP5):c.921C>G (p.Ile307Met)
|
rs763811862
|
|
NM_001611.5(ACP5):c.922G>A (p.Glu308Lys)
|
|
|
NM_001611.5(ACP5):c.930G>A (p.Ser310=)
|
|
|
NM_001611.5(ACP5):c.949A>G (p.Thr317Ala)
|
|
|
NM_001611.5(ACP5):c.954G>A (p.Arg318=)
|
|
|
NM_001611.5(ACP5):c.960G>A (p.Pro320=)
|
|
|
NM_001611.5(ACP5):c.963G>A (p.Arg321=)
|
rs2145080770
|
|
NM_001611.5(ACP5):c.964C>G (p.Arg322Gly)
|
rs146436811
|
|
NM_001611.5(ACP5):c.965G>A (p.Arg322Gln)
|
rs149133430
|
|
NM_001611.5(ACP5):c.970A>G (p.Arg324Gly)
|
|
|
NM_001611.5(ACP5):c.971G>T (p.Arg324Met)
|
rs145265651
|
|
NM_001611.5(ACP5):c.976T>C (p.Ter326Arg)
|
|
|
NM_001611.5(ACP5):c.97G>A (p.Asp33Asn)
|
rs2145093288
|
|