NM_000071.3(CBS):c.1080C>T (p.Ala360=)
|
rs1801181
|
0.30942
|
NM_000071.3(CBS):c.699C>T (p.Tyr233=)
|
rs234706
|
0.28613
|
NM_000071.3(CBS):c.828+23A>G
|
rs73220911
|
0.12482
|
NM_000071.3(CBS):c.829-60C>T
|
rs12329764
|
0.12196
|
NM_000071.3(CBS):c.829-88G>A
|
rs55767206
|
0.10093
|
NM_000071.3(CBS):c.317-46G>C
|
rs75873792
|
0.03396
|
NM_000071.3(CBS):c.1467+38A>G
|
rs139077204
|
0.02609
|
NM_000071.3(CBS):c.*540G>A
|
rs111386779
|
0.01634
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
NM_000071.3(CBS):c.531+34G>T
|
rs149674796
|
0.01001
|
NM_000071.3(CBS):c.829-12C>T
|
rs75616587
|
0.00698
|
NM_000071.3(CBS):c.1145+7C>T
|
rs201158177
|
0.00620
|
NM_000071.3(CBS):c.573G>A (p.Thr191=)
|
rs73906420
|
0.00615
|
NM_000071.3(CBS):c.531+11G>A
|
rs186114513
|
0.00479
|
NM_000071.3(CBS):c.1039+19C>T
|
rs182908734
|
0.00373
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_000071.3(CBS):c.*34G>A
|
rs374464201
|
0.00214
|
NM_000071.3(CBS):c.939G>A (p.Thr313=)
|
rs2228298
|
0.00204
|
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.1359-14C>T
|
rs115185587
|
0.00137
|
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)
|
rs150828989
|
0.00105
|
NM_000071.3(CBS):c.1223+12C>T
|
rs116578198
|
0.00093
|
NM_000071.3(CBS):c.*27C>T
|
rs55646248
|
0.00092
|
NM_000071.3(CBS):c.52C>T (p.Arg18Cys)
|
rs201827340
|
0.00086
|
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.636C>T (p.Asn212=)
|
rs2298758
|
0.00068
|
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.829-14C>T
|
rs370697155
|
0.00051
|
NM_000071.3(CBS):c.954+20C>T
|
rs372327925
|
0.00051
|
NM_000071.3(CBS):c.1380G>A (p.Thr460=)
|
rs765134080
|
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.1039+20G>A
|
rs548871653
|
0.00013
|
NM_000071.3(CBS):c.1341C>T (p.Pro447=)
|
rs371493662
|
0.00013
|
NM_000071.3(CBS):c.1539C>T (p.His513=)
|
rs187828882
|
0.00013
|
NM_000071.3(CBS):c.489T>C (p.Tyr163=)
|
rs61735858
|
0.00013
|
NM_000071.3(CBS):c.670C>T (p.Arg224Cys)
|
rs139456571
|
0.00013
|
NM_000071.3(CBS):c.1632C>T (p.Ala544=)
|
rs566810122
|
0.00010
|
NM_000071.3(CBS):c.1266G>A (p.Pro422=)
|
rs150146702
|
0.00006
|
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg)
|
rs201098477
|
0.00006
|
NM_000071.3(CBS):c.1413G>C (p.Gly471=)
|
rs777859460
|
0.00006
|
NM_000071.3(CBS):c.1425G>A (p.Pro475=)
|
rs147885808
|
0.00006
|
NM_000071.3(CBS):c.1626C>T (p.Phe542=)
|
rs758818777
|
0.00006
|
NM_000071.3(CBS):c.452-12G>T
|
rs780064320
|
0.00006
|
NM_000071.3(CBS):c.612G>C (p.Val204=)
|
rs539670390
|
0.00006
|
NM_000071.3(CBS):c.737-10C>T
|
rs546751042
|
0.00006
|
NM_000071.3(CBS):c.828+20C>T
|
rs771093015
|
0.00006
|
NM_000071.3(CBS):c.1494G>A (p.Arg498=)
|
rs778800147
|
0.00005
|
NM_000071.3(CBS):c.774C>T (p.Gly258=)
|
rs764925747
|
0.00005
|
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu)
|
rs755106884
|
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.1040-16G>A
|
rs755940179
|
0.00003
|
NM_000071.3(CBS):c.1224-14C>T
|
rs756737169
|
0.00003
|
NM_000071.3(CBS):c.1224-5C>T
|
rs370071493
|
0.00003
|
NM_000071.3(CBS):c.1272C>T (p.Thr424=)
|
rs141717913
|
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.1359-18C>T
|
rs770172764
|
0.00003
|
NM_000071.3(CBS):c.147G>A (p.Pro49=)
|
rs771719483
|
0.00003
|
NM_000071.3(CBS):c.1563C>T (p.Thr521=)
|
rs773052594
|
0.00003
|
NM_000071.3(CBS):c.209C>T (p.Pro70Leu)
|
rs2229413
|
0.00003
|
NM_000071.3(CBS):c.317-22G>A
|
rs200724824
|
0.00003
|
NM_000071.3(CBS):c.415G>A (p.Gly139Arg)
|
rs121964965
|
0.00003
|
NM_000071.3(CBS):c.918C>T (p.Ile306=)
|
rs201950895
|
0.00003
|
NM_000071.3(CBS):c.183C>T (p.Ser61=)
|
rs753906914
|
0.00002
|
NM_000071.3(CBS):c.959T>C (p.Val320Ala)
|
rs781567152
|
0.00002
|
NM_000071.3(CBS):c.1145+9C>T
|
rs745997797
|
0.00001
|
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)
|
rs121964971
|
0.00001
|
NM_000071.3(CBS):c.144T>G (p.Ala48=)
|
rs770839773
|
0.00001
|
NM_000071.3(CBS):c.34C>T (p.Pro12Ser)
|
rs558259739
|
0.00001
|
NM_000071.3(CBS):c.447C>T (p.Asn149=)
|
rs1457546374
|
0.00001
|
NM_000071.3(CBS):c.675C>T (p.Asn225=)
|
rs145303290
|
0.00001
|
NM_000071.3(CBS):c.829-3C>T
|
rs780624117
|
0.00001
|
NM_000071.3(CBS):c.954+4G>A
|
rs770671402
|
0.00001
|
GRCh37/hg19 21q22.3(chr21:44477206-44488974)
|
|
|
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
|
|
|
NM_000071.2(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC
|
|
|
NM_000071.3(CBS):c.*10C>A
|
rs9978104
|
|
NM_000071.3(CBS):c.-85+10G>C
|
rs886057102
|
|
NM_000071.3(CBS):c.-9+14G>A
|
rs927172505
|
|
NM_000071.3(CBS):c.1039G>T (p.Gly347Cys)
|
|
|
NM_000071.3(CBS):c.1096G>A (p.Glu366Lys)
|
|
|
NM_000071.3(CBS):c.1146-20G>A
|
rs1057522600
|
|
NM_000071.3(CBS):c.1223+16C>G
|
rs748900028
|
|
NM_000071.3(CBS):c.1346T>G (p.Val449Gly)
|
|
|
NM_000071.3(CBS):c.1358+15C>A
|
rs186497436
|
|
NM_000071.3(CBS):c.1358+15C>G
|
rs186497436
|
|
NM_000071.3(CBS):c.1468-14C>T
|
|
|
NM_000071.3(CBS):c.1471C>T (p.Arg491Cys)
|
|
|
NM_000071.3(CBS):c.1500G>A (p.Ser500=)
|
rs1057522901
|
|
NM_000071.3(CBS):c.1552+16C>T
|
rs1555871071
|
|
NM_000071.3(CBS):c.1552+21_1552+22del
|
rs1555871062
|
|
NM_000071.3(CBS):c.1553-13G>C
|
rs766380369
|
|
NM_000071.3(CBS):c.1553-16C>T
|
rs1057522673
|
|
NM_000071.3(CBS):c.228C>T (p.Ile76=)
|
rs1555876151
|
|
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)
|
rs786204608
|
|
NM_000071.3(CBS):c.241C>G (p.Leu81Val)
|
|
|
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)
|
rs786204609
|
|
NM_000071.3(CBS):c.348G>T (p.Gly116=)
|
rs902976689
|
|
NM_000071.3(CBS):c.423G>C (p.Thr141=)
|
rs773579814
|
|
NM_000071.3(CBS):c.451+20G>A
|
rs1057520922
|
|
NM_000071.3(CBS):c.491G>A (p.Arg164His)
|
|
|
NM_000071.3(CBS):c.612G>T (p.Val204=)
|
rs539670390
|
|
NM_000071.3(CBS):c.667-10_667-7del
|
rs376011228
|
|
NM_000071.3(CBS):c.825C>T (p.Cys275=)
|
rs764638041
|
|
NM_000071.3(CBS):c.844C>T (p.Pro282Ser)
|
rs1057518515
|
|
NM_000071.3(CBS):c.845_846insGAAGGGTCCATCCTCGCAGAGCCGGAGGAGCTGAACCAGACGGAGCAGACAACCTACGAGGTGGAACC (p.Pro282_Glu283insLysGlyProSerSerGlnSerArgArgSerTer)
|
rs786200967
|
|
NM_000071.3(CBS):c.874_875delinsTT (p.Glu292Leu)
|
rs1064795178
|
|
NM_000071.3(CBS):c.954+18C>G
|
rs1057521202
|
|
NM_000071.3(CBS):c.[233C>G;306G>C]
|
|
|