NM_000071.3(CBS):c.*540G>A
|
rs111386779
|
0.01634
|
NM_000071.3(CBS):c.1039+19C>T
|
rs182908734
|
0.00373
|
NM_000071.3(CBS):c.939G>A (p.Thr313=)
|
rs2228298
|
0.00204
|
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.1257G>A (p.Leu419=)
|
rs138432416
|
0.00083
|
NM_000071.3(CBS):c.829-13G>A
|
rs201106576
|
0.00067
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
NM_000071.3(CBS):c.1380G>A (p.Thr460=)
|
rs765134080
|
0.00038
|
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.489T>C (p.Tyr163=)
|
rs61735858
|
0.00013
|
NM_000071.3(CBS):c.1632C>T (p.Ala544=)
|
rs566810122
|
0.00010
|
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.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.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.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.918C>T (p.Ile306=)
|
rs201950895
|
0.00003
|
NM_000071.3(CBS):c.183C>T (p.Ser61=)
|
rs753906914
|
0.00002
|
NM_000071.3(CBS):c.1145+9C>T
|
rs745997797
|
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
|
NM_000071.3(CBS):c.-85+10G>C
|
rs886057102
|
|
NM_000071.3(CBS):c.-9+14G>A
|
rs927172505
|
|
NM_000071.3(CBS):c.1146-20G>A
|
rs1057522600
|
|
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.1468-14C>T
|
|
|
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.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.667-10_667-7del
|
rs376011228
|
|
NM_000071.3(CBS):c.825C>T (p.Cys275=)
|
rs764638041
|
|
NM_000071.3(CBS):c.954+18C>G
|
rs1057521202
|
|