NM_000071.3(CBS):c.317-46G>C
|
rs75873792
|
0.03396
|
NM_000071.3(CBS):c.1467+317G>A
|
rs375968402
|
0.02605
|
NM_000071.3(CBS):c.829-320G>A
|
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|
0.02175
|
NM_000071.3(CBS):c.*540G>A
|
rs111386779
|
0.01634
|
NM_000071.3(CBS):c.955-108C>A
|
rs113678154
|
0.01389
|
NM_000071.3(CBS):c.*81G>A
|
rs115406358
|
0.01211
|
NM_000071.3(CBS):c.829-91G>A
|
rs150181241
|
0.01153
|
NM_000071.3(CBS):c.1040-275G>A
|
rs115880859
|
0.00873
|
NM_000071.3(CBS):c.*566G>A
|
rs111969522
|
0.00793
|
NM_000071.3(CBS):c.1145+241A>G
|
rs112218368
|
0.00754
|
NM_000071.3(CBS):c.209+236G>A
|
rs115368814
|
0.00742
|
NM_000071.3(CBS):c.1146-110C>A
|
rs138222805
|
0.00562
|
NM_000071.3(CBS):c.210-45dup
|
rs397805342
|
0.00190
|
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)
|
rs150828989
|
0.00105
|
NM_000071.3(CBS):c.1125C>T (p.Pro375=)
|
rs146180894
|
0.00067
|
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)
|
rs112029370
|
0.00064
|
NM_000071.3(CBS):c.1380G>A (p.Thr460=)
|
rs765134080
|
0.00038
|
NM_000071.3(CBS):c.33G>A (p.Gly11=)
|
rs567323664
|
0.00025
|
NM_000071.3(CBS):c.829-11G>T
|
rs371619788
|
0.00025
|
NM_000071.3(CBS):c.1039+20G>A
|
rs548871653
|
0.00013
|
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.1341C>T (p.Pro447=)
|
rs371493662
|
0.00013
|
NM_000071.3(CBS):c.151A>C (p.Arg51=)
|
rs754759237
|
0.00010
|
NM_000071.3(CBS):c.1524C>T (p.Phe508=)
|
rs748610628
|
0.00010
|
NM_000071.3(CBS):c.1575T>C (p.Ser525=)
|
rs150037641
|
0.00010
|
NM_000071.3(CBS):c.894G>A (p.Gln298=)
|
rs370514077
|
0.00010
|
NM_000071.3(CBS):c.1338G>A (p.Ala446=)
|
rs373962057
|
0.00007
|
NM_000071.3(CBS):c.345C>T (p.Gly115=)
|
rs374438247
|
0.00007
|
NM_000071.3(CBS):c.1039+3G>A
|
rs747384273
|
0.00006
|
NM_000071.3(CBS):c.1161C>T (p.Ser387=)
|
rs149280976
|
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.786G>A (p.Thr262=)
|
rs551782391
|
0.00006
|
NM_000071.3(CBS):c.828+20C>T
|
rs771093015
|
0.00006
|
NM_000071.3(CBS):c.954+7C>T
|
rs554429567
|
0.00006
|
NM_000071.3(CBS):c.1074G>A (p.Val358=)
|
rs570135008
|
0.00005
|
NM_000071.3(CBS):c.1494G>A (p.Arg498=)
|
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|
0.00005
|
NM_000071.3(CBS):c.1281G>A (p.Pro427=)
|
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|
0.00004
|
NM_000071.3(CBS):c.342G>A (p.Ala114=)
|
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|
0.00004
|
NM_000071.3(CBS):c.501C>T (p.Ile167=)
|
rs754246295
|
0.00004
|
NM_000071.3(CBS):c.1040-16G>A
|
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|
0.00003
|
NM_000071.3(CBS):c.1083G>A (p.Ala361=)
|
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|
0.00003
|
NM_000071.3(CBS):c.1224-14C>T
|
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|
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.1359-18C>T
|
rs770172764
|
0.00003
|
NM_000071.3(CBS):c.1359-9G>A
|
rs202137317
|
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.429C>T (p.Ile143=)
|
rs370167302
|
0.00003
|
NM_000071.3(CBS):c.456C>T (p.Ile152=)
|
rs769438280
|
0.00003
|
NM_000071.3(CBS):c.525C>T (p.Ser175=)
|
rs767850964
|
0.00003
|
NM_000071.3(CBS):c.615G>C (p.Gly205=)
|
rs773114442
|
0.00003
|
NM_000071.3(CBS):c.903C>T (p.Tyr301=)
|
rs746575551
|
0.00003
|
NM_000071.3(CBS):c.924C>T (p.Tyr308=)
|
rs149809170
|
0.00003
|
NM_000071.3(CBS):c.1038C>T (p.Cys346=)
|
rs781584799
|
0.00002
|
NM_000071.3(CBS):c.1605C>T (p.Thr535=)
|
rs769221457
|
0.00002
|
NM_000071.3(CBS):c.183C>T (p.Ser61=)
|
rs753906914
|
0.00002
|
NM_000071.3(CBS):c.532-13T>C
|
rs757869040
|
0.00002
|
NM_000071.3(CBS):c.1110C>T (p.Cys370=)
|
rs752404089
|
0.00001
|
NM_000071.3(CBS):c.1145+9C>T
|
rs745997797
|
0.00001
|
NM_000071.3(CBS):c.1146-5C>T
|
rs941685349
|
0.00001
|
NM_000071.3(CBS):c.1398G>A (p.Ser466=)
|
rs766199408
|
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.829-3C>T
|
rs780624117
|
0.00001
|
NM_000071.3(CBS):c.954+4G>A
|
rs770671402
|
0.00001
|
NC_000021.9:g.43053130C>T
|
rs114892713
|
|
NM_000071.3(CBS):c.*53_*55del
|
rs1442787650
|
|
NM_000071.3(CBS):c.*681A>G
|
rs111413325
|
|
NM_000071.3(CBS):c.-6C>A
|
rs1601384805
|
|
NM_000071.3(CBS):c.-84-216A>G
|
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|
|
NM_000071.3(CBS):c.-85+10G>C
|
rs886057102
|
|
NM_000071.3(CBS):c.-85+78G>C
|
rs191574093
|
|
NM_000071.3(CBS):c.-9+14G>A
|
rs927172505
|
|
NM_000071.3(CBS):c.1040-115G>C
|
rs187967192
|
|
NM_000071.3(CBS):c.1146-10C>G
|
rs1379534542
|
|
NM_000071.3(CBS):c.1146-199T>C
|
rs143246802
|
|
NM_000071.3(CBS):c.1146-20G>A
|
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|
|
NM_000071.3(CBS):c.1146-68G>A
|
rs147006826
|
|
NM_000071.3(CBS):c.1223+123_1224-87del
|
rs1416544817
|
|
NM_000071.3(CBS):c.1223+16C>G
|
rs748900028
|
|
NM_000071.3(CBS):c.1358+15C>A
|
rs186497436
|
|
NM_000071.3(CBS):c.1358+15C>G
|
rs186497436
|
|
NM_000071.3(CBS):c.1468-132A>C
|
rs77459968
|
|
NM_000071.3(CBS):c.1468-219G>A
|
rs143698976
|
|
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+201G>A
|
rs138874126
|
|
NM_000071.3(CBS):c.1552+21_1552+22del
|
rs1555871062
|
|
NM_000071.3(CBS):c.1553-101T>C
|
rs73906414
|
|
NM_000071.3(CBS):c.1553-13G>C
|
rs766380369
|
|
NM_000071.3(CBS):c.1553-157dup
|
rs372427824
|
|
NM_000071.3(CBS):c.1553-16C>T
|
rs1057522673
|
|
NM_000071.3(CBS):c.1553-48C>T
|
rs114623741
|
|
NM_000071.3(CBS):c.228C>T (p.Ile76=)
|
rs1555876151
|
|
NM_000071.3(CBS):c.317-225C>T
|
rs142215670
|
|
NM_000071.3(CBS):c.317-319A>G
|
rs73906421
|
|
NM_000071.3(CBS):c.317-70dup
|
rs772361626
|
|
NM_000071.3(CBS):c.348G>T (p.Gly116=)
|
rs902976689
|
|
NM_000071.3(CBS):c.451+197del
|
rs144404003
|
|
NM_000071.3(CBS):c.451+20G>A
|
rs1057520922
|
|
NM_000071.3(CBS):c.625C>A (p.Arg209=)
|
rs137939628
|
|
NM_000071.3(CBS):c.667-10_667-7del
|
rs376011228
|
|
NM_000071.3(CBS):c.669C>T (p.Tyr223=)
|
rs1366764579
|
|
NM_000071.3(CBS):c.737-174T>C
|
rs78789995
|
|
NM_000071.3(CBS):c.737-225C>T
|
rs138347850
|
|
NM_000071.3(CBS):c.954+18C>G
|
rs1057521202
|
|
NM_000071.3(CBS):c.954+47C>T
|
rs57282132
|
|
NM_000071.3(CBS):c.955-48C>T
|
rs73372374
|
|
NM_000071.3(CBS):c.990G>A (p.Glu330=)
|
rs1373353287
|
|