NM_000071.3(CBS):c.1080C>T (p.Ala360=)
|
rs1801181
|
0.30942
|
NM_000071.3(CBS):c.*123C>G
|
rs1051319
|
0.21968
|
NM_000071.3(CBS):c.*540G>A
|
rs111386779
|
0.01634
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_000071.3(CBS):c.954+8G>A
|
rs76292057
|
0.00188
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
NM_000071.3(CBS):c.-136C>T
|
rs543595103
|
0.00096
|
NM_000071.3(CBS):c.*18G>A
|
rs200259659
|
0.00083
|
NM_000071.3(CBS):c.1257G>A (p.Leu419=)
|
rs138432416
|
0.00083
|
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)
|
rs5742905
|
0.00083
|
NM_000071.3(CBS):c.829-13G>A
|
rs201106576
|
0.00067
|
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)
|
rs112029370
|
0.00064
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
NM_000071.3(CBS):c.1223+13G>A
|
rs533660793
|
0.00035
|
NM_000071.3(CBS):c.1479G>A (p.Thr493=)
|
rs143225442
|
0.00029
|
NM_000071.3(CBS):c.600G>A (p.Pro200=)
|
rs181472622
|
0.00029
|
NM_000071.3(CBS):c.829-11G>T
|
rs371619788
|
0.00025
|
NM_000071.3(CBS):c.1273G>A (p.Val425Met)
|
rs138211175
|
0.00022
|
NM_000071.3(CBS):c.856A>G (p.Ile286Val)
|
rs147040567
|
0.00020
|
NM_000071.3(CBS):c.397G>A (p.Asp133Asn)
|
rs539326697
|
0.00019
|
NM_000071.3(CBS):c.5C>T (p.Pro2Leu)
|
rs546530618
|
0.00019
|
NM_000071.3(CBS):c.1072G>A (p.Val358Met)
|
rs148589243
|
0.00013
|
NM_000071.3(CBS):c.133C>T (p.Arg45Trp)
|
rs201372812
|
0.00013
|
NM_000071.3(CBS):c.1539C>T (p.His513=)
|
rs187828882
|
0.00013
|
NM_000071.3(CBS):c.670C>T (p.Arg224Cys)
|
rs139456571
|
0.00013
|
NM_000071.3(CBS):c.1642C>T (p.Arg548Trp)
|
rs766444814
|
0.00012
|
NM_000071.3(CBS):c.221C>T (p.Pro74Leu)
|
rs762862715
|
0.00011
|
NM_000071.3(CBS):c.1146-12C>T
|
rs199550738
|
0.00010
|
NM_000071.3(CBS):c.1223+5G>A
|
rs372609349
|
0.00010
|
NM_000071.3(CBS):c.770C>T (p.Thr257Met)
|
rs758236584
|
0.00010
|
NM_000071.3(CBS):c.894G>A (p.Gln298=)
|
rs370514077
|
0.00010
|
NM_000071.3(CBS):c.404C>T (p.Thr135Met)
|
rs144832032
|
0.00009
|
NM_000071.3(CBS):c.134G>A (p.Arg45Gln)
|
rs759502207
|
0.00008
|
NM_000071.3(CBS):c.400G>A (p.Gly134Arg)
|
rs147474549
|
0.00008
|
NM_000071.3(CBS):c.847G>A (p.Glu283Lys)
|
rs765811825
|
0.00008
|
NM_000071.3(CBS):c.888G>A (p.Thr296=)
|
rs769593715
|
0.00007
|
NM_000071.3(CBS):c.1039+3G>A
|
rs747384273
|
0.00006
|
NM_000071.3(CBS):c.1067T>C (p.Val356Ala)
|
rs370163789
|
0.00006
|
NM_000071.3(CBS):c.1161C>T (p.Ser387=)
|
rs149280976
|
0.00006
|
NM_000071.3(CBS):c.1315C>T (p.Arg439Trp)
|
rs780508029
|
0.00006
|
NM_000071.3(CBS):c.1379C>T (p.Thr460Met)
|
rs752596508
|
0.00006
|
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg)
|
rs201098477
|
0.00006
|
NM_000071.3(CBS):c.1425G>A (p.Pro475=)
|
rs147885808
|
0.00006
|
NM_000071.3(CBS):c.1472G>A (p.Arg491His)
|
rs747419767
|
0.00006
|
NM_000071.3(CBS):c.1525G>A (p.Ala509Thr)
|
rs1060500680
|
0.00006
|
NM_000071.3(CBS):c.352G>A (p.Val118Met)
|
rs763385546
|
0.00006
|
NM_000071.3(CBS):c.610G>A (p.Val204Met)
|
rs372679328
|
0.00006
|
NM_000071.3(CBS):c.65A>G (p.His22Arg)
|
rs763151207
|
0.00006
|
NM_000071.3(CBS):c.737-10C>T
|
rs546751042
|
0.00006
|
NM_000071.3(CBS):c.786G>A (p.Thr262=)
|
rs551782391
|
0.00006
|
NM_000071.3(CBS):c.954+7C>T
|
rs554429567
|
0.00006
|
NM_000071.3(CBS):c.1468-6T>G
|
rs771250766
|
0.00005
|
NM_000071.3(CBS):c.1564G>A (p.Gly522Arg)
|
rs201916339
|
0.00005
|
NM_000071.3(CBS):c.953C>T (p.Thr318Met)
|
rs769541394
|
0.00005
|
NM_000071.3(CBS):c.1281G>A (p.Pro427=)
|
rs563330591
|
0.00004
|
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu)
|
rs755106884
|
0.00004
|
NM_000071.3(CBS):c.1512G>A (p.Glu504=)
|
rs149170219
|
0.00004
|
NM_000071.3(CBS):c.175C>T (p.Pro59Ser)
|
rs376496085
|
0.00004
|
NM_000071.3(CBS):c.71C>T (p.Ala24Val)
|
rs759682004
|
0.00004
|
NM_000071.3(CBS):c.*22C>T
|
rs1051316
|
0.00003
|
NM_000071.3(CBS):c.*28G>A
|
rs367597108
|
0.00003
|
NM_000071.3(CBS):c.1009A>G (p.Met337Val)
|
rs372822486
|
0.00003
|
NM_000071.3(CBS):c.1106G>A (p.Arg369His)
|
rs11700812
|
0.00003
|
NM_000071.3(CBS):c.1205T>C (p.Leu402Pro)
|
rs371214833
|
0.00003
|
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)
|
rs863223434
|
0.00003
|
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)
|
rs756467921
|
0.00003
|
NM_000071.3(CBS):c.1484C>T (p.Thr495Met)
|
rs772344567
|
0.00003
|
NM_000071.3(CBS):c.152G>A (p.Arg51Lys)
|
rs370983323
|
0.00003
|
NM_000071.3(CBS):c.1594G>A (p.Gly532Arg)
|
rs748953468
|
0.00003
|
NM_000071.3(CBS):c.209C>T (p.Pro70Leu)
|
rs2229413
|
0.00003
|
NM_000071.3(CBS):c.296T>C (p.Phe99Ser)
|
rs112029370
|
0.00003
|
NM_000071.3(CBS):c.2T>C (p.Met1Thr)
|
rs769766030
|
0.00003
|
NM_000071.3(CBS):c.412C>T (p.Pro138Ser)
|
rs765702034
|
0.00003
|
NM_000071.3(CBS):c.415G>A (p.Gly139Arg)
|
rs121964965
|
0.00003
|
NM_000071.3(CBS):c.435G>A (p.Pro145=)
|
rs148782895
|
0.00003
|
NM_000071.3(CBS):c.538G>A (p.Val180Met)
|
rs759402521
|
0.00003
|
NM_000071.3(CBS):c.588G>C (p.Arg196Ser)
|
rs555751528
|
0.00003
|
NM_000071.3(CBS):c.616G>A (p.Val206Met)
|
rs369220569
|
0.00003
|
NM_000071.3(CBS):c.791T>C (p.Ile264Thr)
|
rs760212248
|
0.00003
|
NM_000071.3(CBS):c.924C>T (p.Tyr308=)
|
rs149809170
|
0.00003
|
NM_000071.3(CBS):c.1337C>T (p.Ala446Val)
|
rs757347527
|
0.00002
|
NM_000071.3(CBS):c.1342G>A (p.Val448Met)
|
rs865989946
|
0.00002
|
NM_000071.3(CBS):c.301C>G (p.Leu101Val)
|
rs369644531
|
0.00002
|
NM_000071.3(CBS):c.545G>A (p.Arg182Gln)
|
rs138314784
|
0.00002
|
NM_000071.3(CBS):c.599C>T (p.Pro200Leu)
|
rs758712880
|
0.00002
|
NM_000071.3(CBS):c.637G>A (p.Glu213Lys)
|
rs758703098
|
0.00002
|
NM_000071.3(CBS):c.921C>G (p.Gly307=)
|
rs147875876
|
0.00002
|
NM_000071.3(CBS):c.925G>A (p.Asp309Asn)
|
rs540013184
|
0.00002
|
NM_000071.3(CBS):c.1005C>T (p.Ala335=)
|
rs753731849
|
0.00001
|
NM_000071.3(CBS):c.1019C>T (p.Ala340Val)
|
rs1282760211
|
0.00001
|
NM_000071.3(CBS):c.1065G>A (p.Ala355=)
|
rs748552493
|
0.00001
|
NM_000071.3(CBS):c.1070C>G (p.Ala357Gly)
|
rs863223437
|
0.00001
|
NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)
|
rs745764562
|
0.00001
|
NM_000071.3(CBS):c.1262C>A (p.Ala421Asp)
|
rs886039021
|
0.00001
|
NM_000071.3(CBS):c.1325G>A (p.Gly442Asp)
|
rs1324151005
|
0.00001
|
NM_000071.3(CBS):c.1353G>C (p.Glu451Asp)
|
rs367962613
|
0.00001
|
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)
|
rs121964971
|
0.00001
|
NM_000071.3(CBS):c.1478C>T (p.Thr493Met)
|
rs996249907
|
0.00001
|
NM_000071.3(CBS):c.1551G>A (p.Gln517=)
|
rs750311684
|
0.00001
|
NM_000071.3(CBS):c.1600G>A (p.Val534Ile)
|
rs779569366
|
0.00001
|
NM_000071.3(CBS):c.172C>T (p.Arg58Trp)
|
rs555959266
|
0.00001
|
NM_000071.3(CBS):c.210-3C>T
|
rs562656023
|
0.00001
|
NM_000071.3(CBS):c.34C>T (p.Pro12Ser)
|
rs558259739
|
0.00001
|
NM_000071.3(CBS):c.395G>A (p.Arg132His)
|
rs779011920
|
0.00001
|
NM_000071.3(CBS):c.401G>C (p.Gly134Ala)
|
rs766958673
|
0.00001
|
NM_000071.3(CBS):c.422C>T (p.Thr141Met)
|
rs771178320
|
0.00001
|
NM_000071.3(CBS):c.463G>A (p.Ala155Thr)
|
rs1429138569
|
0.00001
|
NM_000071.3(CBS):c.505A>T (p.Met169Leu)
|
rs1371228792
|
0.00001
|
NM_000071.3(CBS):c.548C>T (p.Ala183Val)
|
rs374464810
|
0.00001
|
NM_000071.3(CBS):c.632A>G (p.Lys211Arg)
|
rs201118737
|
0.00001
|
NM_000071.3(CBS):c.676G>C (p.Ala226Pro)
|
rs763835246
|
0.00001
|
NM_000071.3(CBS):c.68C>T (p.Ser23Leu)
|
rs775785018
|
0.00001
|
NM_000071.3(CBS):c.736+4C>T
|
rs756191746
|
0.00001
|
NM_000071.3(CBS):c.736+5G>A
|
rs750518463
|
0.00001
|
NM_000071.3(CBS):c.736+6T>C
|
rs201727754
|
0.00001
|
NM_000071.3(CBS):c.79_81dup (p.Ser27dup)
|
rs754535608
|
0.00001
|
NM_000071.3(CBS):c.829-3C>T
|
rs780624117
|
0.00001
|
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)
|
rs758447354
|
0.00001
|
GRCh37/hg19 21q22.3(chr21:44477206-44488974)
|
|
|
NC_000021.8:g.(?_44472301)_(44497040_?)dup
|
|
|
NC_000021.8:g.(?_44473450)_(44492323_?)dup
|
|
|
NC_000021.8:g.(?_44473970)_(44492323_?)dup
|
|
|
NC_000021.9:g.(?_43053340)_(43056907_?)del
|
|
|
NC_000021.9:g.(?_43053340)_(43076866_?)dup
|
|
|
NM_000071.2(CBS):c.-242T>C
|
rs1983687076
|
|
NM_000071.3(CBS):c.*132G>C
|
rs550053103
|
|
NM_000071.3(CBS):c.*140G>A
|
rs544806265
|
|
NM_000071.3(CBS):c.*19G>A
|
rs1555869794
|
|
NM_000071.3(CBS):c.*19G>C
|
rs1555869794
|
|
NM_000071.3(CBS):c.*20T>C
|
rs1555869789
|
|
NM_000071.3(CBS):c.*286A>G
|
rs998021241
|
|
NM_000071.3(CBS):c.*296T>C
|
rs4987122
|
|
NM_000071.3(CBS):c.*305T>C
|
rs1202078818
|
|
NM_000071.3(CBS):c.*394C>T
|
rs1175113287
|
|
NM_000071.3(CBS):c.*409G>A
|
rs571374721
|
|
NM_000071.3(CBS):c.*409G>T
|
rs571374721
|
|
NM_000071.3(CBS):c.*472C>T
|
rs886057096
|
|
NM_000071.3(CBS):c.*55_*57del
|
rs886057097
|
|
NM_000071.3(CBS):c.*592T>A
|
rs866356348
|
|
NM_000071.3(CBS):c.*80C>T
|
rs141447394
|
|
NM_000071.3(CBS):c.-4C>A
|
|
|
NM_000071.3(CBS):c.-50dup
|
rs886057101
|
|
NM_000071.3(CBS):c.-81C>T
|
rs1983542635
|
|
NM_000071.3(CBS):c.-85+10G>C
|
rs886057102
|
|
NM_000071.3(CBS):c.-86_-85+13delinsTGAAGGGTACCGCGA
|
rs1568943606
|
|
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)
|
rs760417941
|
|
NM_000071.3(CBS):c.1009A>C (p.Met337Leu)
|
rs372822486
|
|
NM_000071.3(CBS):c.1017C>T (p.Ile339=)
|
rs773933333
|
|
NM_000071.3(CBS):c.1039+6T>G
|
rs1601349690
|
|
NM_000071.3(CBS):c.1039G>T (p.Gly347Cys)
|
|
|
NM_000071.3(CBS):c.103G>A (p.Asp35Asn)
|
|
|
NM_000071.3(CBS):c.103G>T (p.Asp35Tyr)
|
|
|
NM_000071.3(CBS):c.1040G>C (p.Gly347Ala)
|
|
|
NM_000071.3(CBS):c.1061_1069del (p.Val354_Val356del)
|
rs863223436
|
|
NM_000071.3(CBS):c.1064C>T (p.Ala355Val)
|
rs772384826
|
|
NM_000071.3(CBS):c.106A>G (p.Lys36Glu)
|
rs904453895
|
|
NM_000071.3(CBS):c.1071C>T (p.Ala357=)
|
rs368206976
|
|
NM_000071.3(CBS):c.1076A>T (p.Lys359Met)
|
rs779940364
|
|
NM_000071.3(CBS):c.1080_1081delinsTA (p.Ala361Thr)
|
rs1555873407
|
|
NM_000071.3(CBS):c.1082C>T (p.Ala361Val)
|
rs370851632
|
|
NM_000071.3(CBS):c.1090_1098dup (p.Leu364_Glu366dup)
|
rs2146352325
|
|
NM_000071.3(CBS):c.1096G>A (p.Glu366Lys)
|
|
|
NM_000071.3(CBS):c.1108T>C (p.Cys370Arg)
|
|
|
NM_000071.3(CBS):c.1114G>A (p.Val372Ile)
|
rs775354680
|
|
NM_000071.3(CBS):c.1114G>T (p.Val372Phe)
|
rs775354680
|
|
NM_000071.3(CBS):c.1119T>G (p.Ile373Met)
|
|
|
NM_000071.3(CBS):c.112G>A (p.Ala38Thr)
|
rs1064795253
|
|
NM_000071.3(CBS):c.1141T>C (p.Tyr381His)
|
rs267606145
|
|
NM_000071.3(CBS):c.1146-3C>T
|
rs2146344469
|
|
NM_000071.3(CBS):c.1146-6C>T
|
rs1981696579
|
|
NM_000071.3(CBS):c.1148C>T (p.Thr383Ile)
|
rs1568924550
|
|
NM_000071.3(CBS):c.1162G>A (p.Asp388Asn)
|
|
|
NM_000071.3(CBS):c.1166G>C (p.Arg389Thr)
|
rs1383178636
|
|
NM_000071.3(CBS):c.1179G>T (p.Gln393His)
|
rs2146344173
|
|
NM_000071.3(CBS):c.1192A>G (p.Lys398Glu)
|
|
|
NM_000071.3(CBS):c.1194GGA[2] (p.Glu400del)
|
rs745438246
|
|
NM_000071.3(CBS):c.1195G>A (p.Glu399Lys)
|
rs1485255027
|
|
NM_000071.3(CBS):c.1208C>A (p.Thr403Lys)
|
rs886042297
|
|
NM_000071.3(CBS):c.1208C>T (p.Thr403Met)
|
rs886042297
|
|
NM_000071.3(CBS):c.1210_1212del (p.Glu404del)
|
rs1555872822
|
|
NM_000071.3(CBS):c.1212G>C (p.Glu404Asp)
|
|
|
NM_000071.3(CBS):c.1213A>C (p.Lys405Gln)
|
rs570121873
|
|
NM_000071.3(CBS):c.1213AAG[1] (p.Lys406del)
|
rs780555741
|
|
NM_000071.3(CBS):c.1216A>C (p.Lys406Gln)
|
|
|
NM_000071.3(CBS):c.1237C>T (p.Arg413Cys)
|
rs767595472
|
|
NM_000071.3(CBS):c.1238G>A (p.Arg413His)
|
|
|
NM_000071.3(CBS):c.1252G>A (p.Gly418Ser)
|
rs1200734227
|
|
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)
|
rs28934892
|
|
NM_000071.3(CBS):c.1273G>C (p.Val425Leu)
|
|
|
NM_000071.3(CBS):c.1301C>A (p.Thr434Asn)
|
rs1555872506
|
|
NM_000071.3(CBS):c.1304T>C (p.Ile435Thr)
|
rs1282119406
|
|
NM_000071.3(CBS):c.1310T>C (p.Ile437Thr)
|
rs2146341072
|
|
NM_000071.3(CBS):c.132C>G (p.Ile44Met)
|
|
|
NM_000071.3(CBS):c.1346T>G (p.Val449Gly)
|
|
|
NM_000071.3(CBS):c.1355C>T (p.Ala452Val)
|
|
|
NM_000071.3(CBS):c.1357G>T (p.Gly453Trp)
|
rs886057099
|
|
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu)
|
rs886039146
|
|
NM_000071.3(CBS):c.1359G>C (p.Gly453=)
|
rs1307473439
|
|
NM_000071.3(CBS):c.1373T>C (p.Met458Thr)
|
|
|
NM_000071.3(CBS):c.1381C>T (p.Leu461Phe)
|
|
|
NM_000071.3(CBS):c.1382T>G (p.Leu461Arg)
|
|
|
NM_000071.3(CBS):c.13A>G (p.Thr5Ala)
|
rs2146429088
|
|
NM_000071.3(CBS):c.1400C>T (p.Ser467Phe)
|
|
|
NM_000071.3(CBS):c.1424C>T (p.Pro475Leu)
|
|
|
NM_000071.3(CBS):c.1431C>A (p.Asp477Glu)
|
rs1555871920
|
|
NM_000071.3(CBS):c.1436T>C (p.Val479Ala)
|
rs886038933
|
|
NM_000071.3(CBS):c.1438G>A (p.Gly480Ser)
|
|
|
NM_000071.3(CBS):c.1448T>C (p.Ile483Thr)
|
|
|
NM_000071.3(CBS):c.1451A>G (p.Tyr484Cys)
|
rs1555871913
|
|
NM_000071.3(CBS):c.1451A>T (p.Tyr484Phe)
|
rs1555871913
|
|
NM_000071.3(CBS):c.1453A>G (p.Lys485Glu)
|
rs886057098
|
|
NM_000071.3(CBS):c.1457A>G (p.Gln486Arg)
|
rs2146337741
|
|
NM_000071.3(CBS):c.1467+4C>T
|
rs1981503515
|
|
NM_000071.3(CBS):c.1467G>A (p.Gln489=)
|
|
|
NM_000071.3(CBS):c.1471C>T (p.Arg491Cys)
|
|
|
NM_000071.3(CBS):c.149G>A (p.Ser50Asn)
|
|
|
NM_000071.3(CBS):c.14C>A (p.Thr5Asn)
|
|
|
NM_000071.3(CBS):c.1507C>G (p.Leu503Val)
|
|
|
NM_000071.3(CBS):c.1513A>G (p.Met505Val)
|
rs2146328317
|
|
NM_000071.3(CBS):c.1514T>G (p.Met505Arg)
|
rs1981234989
|
|
NM_000071.3(CBS):c.1516G>A (p.Asp506Asn)
|
|
|
NM_000071.3(CBS):c.1526C>T (p.Ala509Val)
|
rs794727161
|
|
NM_000071.3(CBS):c.1527C>T (p.Ala509=)
|
rs794727162
|
|
NM_000071.3(CBS):c.1538A>G (p.His513Arg)
|
|
|
NM_000071.3(CBS):c.1539C>G (p.His513Gln)
|
rs187828882
|
|
NM_000071.3(CBS):c.153G>T (p.Arg51Ser)
|
|
|
NM_000071.3(CBS):c.1552+5G>A
|
|
|
NM_000071.3(CBS):c.1553-5C>G
|
|
|
NM_000071.3(CBS):c.155G>A (p.Cys52Tyr)
|
rs779777933
|
|
NM_000071.3(CBS):c.1576C>A (p.Gln526Lys)
|
rs1555869958
|
|
NM_000071.3(CBS):c.1579C>T (p.Arg527Trp)
|
rs1455031864
|
|
NM_000071.3(CBS):c.1580G>A (p.Arg527Gln)
|
rs551198487
|
|
NM_000071.3(CBS):c.1597G>T (p.Val533Leu)
|
rs1568916218
|
|
NM_000071.3(CBS):c.1606G>A (p.Ala536Thr)
|
|
|
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)
|
rs121964968
|
|
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)
|
rs199948079
|
|
NM_000071.3(CBS):c.1633G>A (p.Ala545Thr)
|
|
|
NM_000071.3(CBS):c.1634C>T (p.Ala545Val)
|
rs754031824
|
|
NM_000071.3(CBS):c.1645G>A (p.Asp549Asn)
|
rs1980865900
|
|
NM_000071.3(CBS):c.1648C>A (p.Gln550Lys)
|
|
|
NM_000071.3(CBS):c.1654T>G (p.Ter552Gly)
|
|
|
NM_000071.3(CBS):c.1656A>C (p.Ter552Cys)
|
rs1365095601
|
|
NM_000071.3(CBS):c.170G>A (p.Gly57Asp)
|
rs1295461215
|
|
NM_000071.3(CBS):c.179C>T (p.Ala60Val)
|
rs765352771
|
|
NM_000071.3(CBS):c.184G>A (p.Glu62Lys)
|
|
|
NM_000071.3(CBS):c.202A>G (p.Thr68Ala)
|
|
|
NM_000071.3(CBS):c.209+2dup
|
|
|
NM_000071.3(CBS):c.209+5G>C
|
rs1555876750
|
|
NM_000071.3(CBS):c.209C>G (p.Pro70Arg)
|
|
|
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)
|
rs786204608
|
|
NM_000071.3(CBS):c.23C>G (p.Ala8Gly)
|
|
|
NM_000071.3(CBS):c.23C>T (p.Ala8Val)
|
rs919403971
|
|
NM_000071.3(CBS):c.241C>G (p.Leu81Val)
|
|
|
NM_000071.3(CBS):c.251T>C (p.Ile84Thr)
|
|
|
NM_000071.3(CBS):c.260C>T (p.Thr87Ile)
|
|
|
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
|
|
|
NM_000071.3(CBS):c.265A>T (p.Met89Leu)
|
|
|
NM_000071.3(CBS):c.266T>A (p.Met89Lys)
|
rs772450760
|
|
NM_000071.3(CBS):c.282G>C (p.Lys94Asn)
|
|
|
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)
|
rs1347662650
|
|
NM_000071.3(CBS):c.28G>T (p.Val10Leu)
|
|
|
NM_000071.3(CBS):c.297C>G (p.Phe99Leu)
|
rs749697783
|
|
NM_000071.3(CBS):c.298G>A (p.Gly100Ser)
|
|
|
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)
|
rs786204609
|
|
NM_000071.3(CBS):c.313C>G (p.Leu105Val)
|
rs1601375543
|
|
NM_000071.3(CBS):c.316+5G>C
|
rs1601375508
|
|
NM_000071.3(CBS):c.323A>G (p.Lys108Arg)
|
rs2146395442
|
|
NM_000071.3(CBS):c.344G>A (p.Gly115Asp)
|
|
|
NM_000071.3(CBS):c.349A>T (p.Ser117Cys)
|
rs1982753226
|
|
NM_000071.3(CBS):c.352G>T (p.Val118Leu)
|
|
|
NM_000071.3(CBS):c.359A>G (p.Asp120Gly)
|
rs1982750491
|
|
NM_000071.3(CBS):c.381T>G (p.Ile127Met)
|
rs199824647
|
|
NM_000071.3(CBS):c.389C>T (p.Ala130Val)
|
rs1301672360
|
|
NM_000071.3(CBS):c.393G>C (p.Glu131Asp)
|
rs1555875351
|
|
NM_000071.3(CBS):c.394C>A (p.Arg132Ser)
|
rs140002610
|
|
NM_000071.3(CBS):c.400G>C (p.Gly134Arg)
|
rs147474549
|
|
NM_000071.3(CBS):c.421A>G (p.Thr141Ala)
|
rs2146393956
|
|
NM_000071.3(CBS):c.426T>G (p.Ile142Met)
|
|
|
NM_000071.3(CBS):c.430G>C (p.Glu144Gln)
|
rs121964966
|
|
NM_000071.3(CBS):c.450C>A (p.Thr150=)
|
|
|
NM_000071.3(CBS):c.450C>T (p.Thr150=)
|
rs750030593
|
|
NM_000071.3(CBS):c.451+20G>T
|
rs1057520922
|
|
NM_000071.3(CBS):c.451G>T (p.Gly151Trp)
|
rs373782713
|
|
NM_000071.3(CBS):c.452G>T (p.Gly151Val)
|
rs2146388335
|
|
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)
|
rs745704046
|
|
NM_000071.3(CBS):c.469G>A (p.Ala157Thr)
|
rs199817801
|
|
NM_000071.3(CBS):c.474G>C (p.Ala158=)
|
rs189362155
|
|
NM_000071.3(CBS):c.488A>G (p.Tyr163Cys)
|
rs2146387804
|
|
NM_000071.3(CBS):c.491G>A (p.Arg164His)
|
|
|
NM_000071.3(CBS):c.493T>G (p.Cys165Gly)
|
rs1234354755
|
|
NM_000071.3(CBS):c.496A>C (p.Ile166Leu)
|
|
|
NM_000071.3(CBS):c.49C>A (p.His17Asn)
|
rs2146428735
|
|
NM_000071.3(CBS):c.502G>A (p.Val168Met)
|
rs121964970
|
|
NM_000071.3(CBS):c.518T>G (p.Met173Arg)
|
rs1982605960
|
|
NM_000071.3(CBS):c.52C>A (p.Arg18Ser)
|
rs201827340
|
|
NM_000071.3(CBS):c.530A>C (p.Lys177Thr)
|
|
|
NM_000071.3(CBS):c.531G>C (p.Lys177Asn)
|
rs1064795022
|
|
NM_000071.3(CBS):c.532G>A (p.Val178Met)
|
rs370843514
|
|
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)
|
rs794727835
|
|
NM_000071.3(CBS):c.539T>C (p.Val180Ala)
|
rs1555875010
|
|
NM_000071.3(CBS):c.542T>C (p.Leu181Pro)
|
|
|
NM_000071.3(CBS):c.544C>T (p.Arg182Trp)
|
|
|
NM_000071.3(CBS):c.548C>G (p.Ala183Gly)
|
|
|
NM_000071.3(CBS):c.554G>A (p.Gly185Glu)
|
|
|
NM_000071.3(CBS):c.56C>T (p.Ser19Leu)
|
|
|
NM_000071.3(CBS):c.580A>G (p.Asn194Asp)
|
rs370089875
|
|
NM_000071.3(CBS):c.581A>G (p.Asn194Ser)
|
|
|
NM_000071.3(CBS):c.596C>G (p.Ser199Cys)
|
rs1982554358
|
|
NM_000071.3(CBS):c.599C>G (p.Pro200Arg)
|
|
|
NM_000071.3(CBS):c.59G>A (p.Gly20Glu)
|
rs1983457688
|
|
NM_000071.3(CBS):c.612G>T (p.Val204=)
|
rs539670390
|
|
NM_000071.3(CBS):c.622T>C (p.Trp208Arg)
|
rs1060500683
|
|
NM_000071.3(CBS):c.624G>T (p.Trp208Cys)
|
rs774174074
|
|
NM_000071.3(CBS):c.626G>A (p.Arg209Gln)
|
rs781759129
|
|
NM_000071.3(CBS):c.626G>C (p.Arg209Pro)
|
|
|
NM_000071.3(CBS):c.636C>G (p.Asn212Lys)
|
rs2298758
|
|
NM_000071.3(CBS):c.638A>G (p.Glu213Gly)
|
|
|
NM_000071.3(CBS):c.650C>T (p.Ser217Phe)
|
rs1555874874
|
|
NM_000071.3(CBS):c.664C>T (p.Gln222Ter)
|
rs1568932262
|
|
NM_000071.3(CBS):c.667-10_667-7del
|
rs376011228
|
|
NM_000071.3(CBS):c.667-14C>G
|
rs1388184910
|
|
NM_000071.3(CBS):c.667-3C>A
|
|
|
NM_000071.3(CBS):c.671G>A (p.Arg224His)
|
|
|
NM_000071.3(CBS):c.671G>T (p.Arg224Leu)
|
rs761647392
|
|
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)
|
rs1555874803
|
|
NM_000071.3(CBS):c.685C>A (p.Pro229Thr)
|
rs375730175
|
|
NM_000071.3(CBS):c.698_699inv (p.Tyr233Cys)
|
|
|
NM_000071.3(CBS):c.709G>A (p.Ala237Thr)
|
|
|
NM_000071.3(CBS):c.710C>T (p.Ala237Val)
|
rs1568931765
|
|
NM_000071.3(CBS):c.731G>A (p.Cys244Tyr)
|
rs1982489718
|
|
NM_000071.3(CBS):c.737-10C>A
|
|
|
NM_000071.3(CBS):c.737-10C>G
|
|
|
NM_000071.3(CBS):c.741G>C (p.Lys247Asn)
|
rs746892057
|
|
NM_000071.3(CBS):c.745G>A (p.Asp249Asn)
|
rs767397847
|
|
NM_000071.3(CBS):c.748A>G (p.Met250Val)
|
rs777884368
|
|
NM_000071.3(CBS):c.748A>T (p.Met250Leu)
|
|
|
NM_000071.3(CBS):c.749T>A (p.Met250Lys)
|
rs1555874564
|
|
NM_000071.3(CBS):c.750G>A (p.Met250Ile)
|
rs863223431
|
|
NM_000071.3(CBS):c.750G>C (p.Met250Ile)
|
|
|
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)
|
rs1176770868
|
|
NM_000071.3(CBS):c.753G>T (p.Leu251=)
|
rs2146375662
|
|
NM_000071.3(CBS):c.754G>A (p.Val252Met)
|
|
|
NM_000071.3(CBS):c.75G>T (p.Lys25Asn)
|
rs1484147890
|
|
NM_000071.3(CBS):c.761C>T (p.Ser254Leu)
|
|
|
NM_000071.3(CBS):c.763G>C (p.Val255Leu)
|
rs1982371715
|
|
NM_000071.3(CBS):c.77G>C (p.Gly26Ala)
|
|
|
NM_000071.3(CBS):c.808G>A (p.Glu270Lys)
|
|
|
NM_000071.3(CBS):c.808_810del (p.Glu270del)
|
rs760710691
|
|
NM_000071.3(CBS):c.817C>T (p.Pro273Ser)
|
rs2146374921
|
|
NM_000071.3(CBS):c.825C>T (p.Cys275=)
|
rs764638041
|
|
NM_000071.3(CBS):c.829-2dup
|
|
|
NM_000071.3(CBS):c.829-8C>G
|
rs750081937
|
|
NM_000071.3(CBS):c.838G>A (p.Val280Met)
|
rs1982225866
|
|
NM_000071.3(CBS):c.844C>T (p.Pro282Ser)
|
rs1057518515
|
|
NM_000071.3(CBS):c.846C>T (p.Pro282=)
|
|
|
NM_000071.3(CBS):c.857T>C (p.Ile286Thr)
|
rs1060500681
|
|
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)
|
rs141502207
|
|
NM_000071.3(CBS):c.862G>T (p.Ala288Ser)
|
rs141502207
|
|
NM_000071.3(CBS):c.866A>G (p.Glu289Gly)
|
rs1601352415
|
|
NM_000071.3(CBS):c.874_875delinsTT (p.Glu292Leu)
|
rs1064795178
|
|
NM_000071.3(CBS):c.883C>G (p.Gln295Glu)
|
|
|
NM_000071.3(CBS):c.887C>G (p.Thr296Arg)
|
rs562530775
|
|
NM_000071.3(CBS):c.887C>T (p.Thr296Met)
|
rs562530775
|
|
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)
|
rs779270933
|
|
NM_000071.3(CBS):c.927C>A (p.Asp309Glu)
|
|
|
NM_000071.3(CBS):c.92G>A (p.Gly31Glu)
|
|
|
NM_000071.3(CBS):c.935C>A (p.Pro312His)
|
|
|
NM_000071.3(CBS):c.938C>T (p.Thr313Met)
|
|
|
NM_000071.3(CBS):c.946G>A (p.Asp316Asn)
|
rs2146366197
|
|
NM_000071.3(CBS):c.954+5G>T
|
rs1568928886
|
|
NM_000071.3(CBS):c.954G>A (p.Thr318=)
|
rs776122644
|
|
NM_000071.3(CBS):c.955-3C>T
|
|
|
NM_000071.3(CBS):c.955-5C>A
|
rs746366131
|
|
NM_000071.3(CBS):c.987G>C (p.Glu329Asp)
|
rs765151853
|
|
NM_000071.3(CBS):c.992C>T (p.Ala331Val)
|
rs777919630
|
|
NM_000071.3(CBS):c.996C>A (p.Phe332Leu)
|
|
|
NM_000071.3(CBS):c.[233C>G;306G>C]
|
|
|