NM_000274.4(OAT):c.539G>C (p.Arg180Thr)
|
rs121965040
|
0.00008
|
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)
|
rs121965044
|
0.00005
|
NM_000274.4(OAT):c.596C>A (p.Pro199Gln)
|
rs267606925
|
0.00003
|
NM_000274.4(OAT):c.897C>G (p.Tyr299Ter)
|
rs121965057
|
0.00003
|
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp)
|
rs121965053
|
0.00001
|
NM_000274.4(OAT):c.1192C>T (p.Arg398Ter)
|
rs200068769
|
0.00001
|
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn)
|
rs386833598
|
0.00001
|
NM_000274.4(OAT):c.162C>A (p.Asn54Lys)
|
rs121965048
|
0.00001
|
NM_000274.4(OAT):c.163T>C (p.Tyr55His)
|
rs121965037
|
0.00001
|
NM_000274.4(OAT):c.796C>T (p.Gln266Ter)
|
rs1951458291
|
0.00001
|
NM_000274.4(OAT):c.800C>T (p.Thr267Ile)
|
rs386833618
|
0.00001
|
NM_000274.4(OAT):c.881T>A (p.Leu294His)
|
rs752974288
|
0.00001
|
NM_000274.4(OAT):c.952G>A (p.Glu318Lys)
|
rs386833621
|
0.00001
|
NM_000274.4(OAT):c.991C>T (p.Arg331Ter)
|
rs386833623
|
0.00001
|
NC_000010.10:g.(?_126086501)_(126086681_?)del
|
|
|
NC_000010.10:g.(?_126089399)_(126089563_?)del
|
|
|
NC_000010.10:g.(?_126091476)_(126092509_?)del
|
|
|
NC_000010.10:g.(?_126093995)_(126100239_?)del
|
|
|
NC_000010.10:g.(?_126097101)_(126097544_?)del
|
|
|
NC_000010.10:g.(?_126097101)_(126100750_?)del
|
|
|
NC_000010.11:g.(124404664_124404669)_(124404736_124405741)del
|
|
|
NM_000274.4(OAT):c.1001dup (p.Ala335fs)
|
rs2134452962
|
|
NM_000274.4(OAT):c.1078del (p.Leu360fs)
|
rs1951389692
|
|
NM_000274.4(OAT):c.1124G>C (p.Gly375Ala)
|
rs121965045
|
|
NM_000274.4(OAT):c.1140del (p.Ile380fs)
|
|
|
NM_000274.4(OAT):c.1150G>T (p.Glu384Ter)
|
rs1285313333
|
|
NM_000274.4(OAT):c.1159+1G>A
|
rs2134450136
|
|
NM_000274.4(OAT):c.1163G>A (p.Trp388Ter)
|
rs2134440659
|
|
NM_000274.4(OAT):c.1164G>A (p.Trp388Ter)
|
|
|
NM_000274.4(OAT):c.1172G>A (p.Trp391Ter)
|
rs386833596
|
|
NM_000274.4(OAT):c.1179_1182dup (p.Leu395fs)
|
rs2134440572
|
|
NM_000274.4(OAT):c.1180T>C (p.Cys394Arg)
|
rs121965054
|
|
NM_000274.4(OAT):c.1181G>A (p.Cys394Tyr)
|
rs386833597
|
|
NM_000274.4(OAT):c.1186C>T (p.Arg396Ter)
|
rs121965036
|
|
NM_000274.4(OAT):c.1201G>T (p.Gly401Ter)
|
rs121965055
|
|
NM_000274.4(OAT):c.1205T>C (p.Leu402Pro)
|
rs121965043
|
|
NM_000274.4(OAT):c.1253_1260dup (p.Lys421delinsTrpTer)
|
rs2134440057
|
|
NM_000274.4(OAT):c.1276C>T (p.Arg426Ter)
|
rs121965058
|
|
NM_000274.4(OAT):c.152G>A (p.Gly51Asp)
|
|
|
NM_000274.4(OAT):c.159del (p.His53fs)
|
rs386833599
|
|
NM_000274.4(OAT):c.182_189del (p.Ala61fs)
|
|
|
NM_000274.4(OAT):c.192_193del (p.Gly65fs)
|
rs386833600
|
|
NM_000274.4(OAT):c.198del (p.Gly67fs)
|
rs1432416419
|
|
NM_000274.4(OAT):c.199+303C>G
|
rs386833601
|
|
NM_000274.4(OAT):c.1A>G (p.Met1Val)
|
rs1283361732
|
|
NM_000274.4(OAT):c.1del (p.Met1fs)
|
|
|
NM_000274.4(OAT):c.200-36_222del
|
rs1564737136
|
|
NM_000274.4(OAT):c.268C>G (p.Gln90Glu)
|
rs121965060
|
|
NM_000274.4(OAT):c.278G>T (p.Cys93Phe)
|
rs121965038
|
|
NM_000274.4(OAT):c.304_305del (p.Lys102fs)
|
rs2134478524
|
|
NM_000274.4(OAT):c.3G>A (p.Met1Ile)
|
rs121965034
|
|
NM_000274.4(OAT):c.425-2A>G
|
rs386833608
|
|
NM_000274.4(OAT):c.425-4_429del
|
rs386833609
|
|
NM_000274.4(OAT):c.426del (p.Val143fs)
|
|
|
NM_000274.4(OAT):c.461G>T (p.Arg154Leu)
|
rs121965039
|
|
NM_000274.4(OAT):c.468G>A (p.Trp156Ter)
|
|
|
NM_000274.4(OAT):c.498C>G (p.Tyr166Ter)
|
|
|
NM_000274.4(OAT):c.49_52dup (p.Val18fs)
|
rs1554867854
|
|
NM_000274.4(OAT):c.515_516del (p.Phe172fs)
|
rs2134476898
|
|
NM_000274.4(OAT):c.525del (p.Asn176fs)
|
|
|
NM_000274.4(OAT):c.533G>A (p.Trp178Ter)
|
rs267606923
|
|
NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer)
|
rs386833612
|
|
NM_000274.4(OAT):c.534G>A (p.Trp178Ter)
|
rs890106099
|
|
NM_000274.4(OAT):c.542C>T (p.Thr181Met)
|
rs386833613
|
|
NM_000274.4(OAT):c.546_649-726del
|
rs2134462662
|
|
NM_000274.4(OAT):c.550G>A (p.Ala184Thr)
|
rs121965050
|
|
NM_000274.4(OAT):c.550_552del (p.Ala184del)
|
rs121965035
|
|
NM_000274.4(OAT):c.576del (p.Ser193fs)
|
rs2134465433
|
|
NM_000274.4(OAT):c.591dup (p.Gly198fs)
|
|
|
NM_000274.4(OAT):c.627T>A (p.Tyr209Ter)
|
rs121965056
|
|
NM_000274.4(OAT):c.648+2T>C
|
|
|
NM_000274.4(OAT):c.772-1G>A
|
rs770390524
|
|
NM_000274.4(OAT):c.776del (p.Leu259fs)
|
rs2134456729
|
|
NM_000274.4(OAT):c.780del (p.Phe260fs)
|
rs2134456707
|
|
NM_000274.4(OAT):c.783del (p.Ile261fs)
|
rs1195885907
|
|
NM_000274.4(OAT):c.808G>C (p.Ala270Pro)
|
rs121965041
|
|
NM_000274.4(OAT):c.812G>A (p.Arg271Lys)
|
rs121965042
|
|
NM_000274.4(OAT):c.824G>A (p.Trp275Ter)
|
rs267606924
|
|
NM_000274.4(OAT):c.896dup (p.Tyr299Ter)
|
rs2134456170
|
|
NM_000274.4(OAT):c.899C>T (p.Pro300Leu)
|
rs759979499
|
|
NM_000274.4(OAT):c.900+1G>A
|
rs1589700702
|
|
NM_000274.4(OAT):c.952del (p.Glu318fs)
|
rs386833620
|
|
NM_000274.4(OAT):c.955C>T (p.His319Tyr)
|
rs121965049
|
|
NM_000274.4(OAT):c.966del (p.Tyr323fs)
|
rs1951417940
|
|
NM_000274.4(OAT):c.97dup (p.Thr33fs)
|
rs1375779674
|
|
NM_000274.4(OAT):c.988_991dup (p.Arg331fs)
|
|
|
NM_000274.4(OAT):c.994G>A (p.Val332Met)
|
rs121965047
|
|