NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)
|
rs112029370
|
0.00064
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
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.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.1223+5G>A
|
rs372609349
|
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.1039+3G>A
|
rs747384273
|
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.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.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.1499C>T (p.Ser500Leu)
|
rs755106884
|
0.00004
|
NM_000071.3(CBS):c.71C>T (p.Ala24Val)
|
rs759682004
|
0.00004
|
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.412C>T (p.Pro138Ser)
|
rs765702034
|
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.1337C>T (p.Ala446Val)
|
rs757347527
|
0.00002
|
NM_000071.3(CBS):c.1342G>A (p.Val448Met)
|
rs865989946
|
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.1019C>T (p.Ala340Val)
|
rs1282760211
|
0.00001
|
NM_000071.3(CBS):c.1070C>G (p.Ala357Gly)
|
rs863223437
|
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.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
|
NC_000021.8:g.(?_44472301)_(44497040_?)dup
|
|
|
NC_000021.8:g.(?_44473970)_(44492323_?)dup
|
|
|
NC_000021.9:g.(?_43053340)_(43056907_?)del
|
|
|
NM_000071.3(CBS):c.1039+6T>G
|
rs1601349690
|
|
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.1064C>T (p.Ala355Val)
|
rs772384826
|
|
NM_000071.3(CBS):c.106A>G (p.Lys36Glu)
|
rs904453895
|
|
NM_000071.3(CBS):c.1076A>T (p.Lys359Met)
|
rs779940364
|
|
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.1108T>C (p.Cys370Arg)
|
|
|
NM_000071.3(CBS):c.1114G>A (p.Val372Ile)
|
rs775354680
|
|
NM_000071.3(CBS):c.1141T>C (p.Tyr381His)
|
rs267606145
|
|
NM_000071.3(CBS):c.1146-3C>T
|
rs2146344469
|
|
NM_000071.3(CBS):c.1148C>T (p.Thr383Ile)
|
rs1568924550
|
|
NM_000071.3(CBS):c.1162G>A (p.Asp388Asn)
|
|
|
NM_000071.3(CBS):c.1179G>T (p.Gln393His)
|
rs2146344173
|
|
NM_000071.3(CBS):c.1192A>G (p.Lys398Glu)
|
|
|
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.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.1355C>T (p.Ala452Val)
|
|
|
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.1424C>T (p.Pro475Leu)
|
|
|
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.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.14C>A (p.Thr5Asn)
|
|
|
NM_000071.3(CBS):c.1507C>G (p.Leu503Val)
|
|
|
NM_000071.3(CBS):c.1514T>G (p.Met505Arg)
|
rs1981234989
|
|
NM_000071.3(CBS):c.1538A>G (p.His513Arg)
|
|
|
NM_000071.3(CBS):c.1552+5G>A
|
|
|
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.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.179C>T (p.Ala60Val)
|
rs765352771
|
|
NM_000071.3(CBS):c.184G>A (p.Glu62Lys)
|
|
|
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.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.381T>G (p.Ile127Met)
|
rs199824647
|
|
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.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.469G>A (p.Ala157Thr)
|
rs199817801
|
|
NM_000071.3(CBS):c.49C>A (p.His17Asn)
|
rs2146428735
|
|
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.542T>C (p.Leu181Pro)
|
|
|
NM_000071.3(CBS):c.544C>T (p.Arg182Trp)
|
|
|
NM_000071.3(CBS):c.554G>A (p.Gly185Glu)
|
|
|
NM_000071.3(CBS):c.56C>T (p.Ser19Leu)
|
|
|
NM_000071.3(CBS):c.581A>G (p.Asn194Ser)
|
|
|
NM_000071.3(CBS):c.596C>G (p.Ser199Cys)
|
rs1982554358
|
|
NM_000071.3(CBS):c.59G>A (p.Gly20Glu)
|
rs1983457688
|
|
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.638A>G (p.Glu213Gly)
|
|
|
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.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.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.75G>T (p.Lys25Asn)
|
rs1484147890
|
|
NM_000071.3(CBS):c.761C>T (p.Ser254Leu)
|
|
|
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.829-2dup
|
|
|
NM_000071.3(CBS):c.838G>A (p.Val280Met)
|
rs1982225866
|
|
NM_000071.3(CBS):c.857T>C (p.Ile286Thr)
|
rs1060500681
|
|
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.887C>T (p.Thr296Met)
|
rs562530775
|
|
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.987G>C (p.Glu329Asp)
|
rs765151853
|
|