NM_133459.4(CCBE1):c.*2460T>C
|
rs76216795
|
0.00485
|
NM_133459.4(CCBE1):c.195G>A (p.Glu65=)
|
rs116673304
|
0.00475
|
NM_133459.4(CCBE1):c.*337T>G
|
rs80296667
|
0.00389
|
NM_133459.4(CCBE1):c.*1434C>G
|
rs144479124
|
0.00377
|
NM_133459.4(CCBE1):c.*2158C>T
|
rs376015917
|
0.00376
|
NM_133459.4(CCBE1):c.*3182T>G
|
rs8084216
|
0.00371
|
NM_133459.4(CCBE1):c.*4934G>T
|
rs145940035
|
0.00353
|
NM_133459.4(CCBE1):c.*378G>A
|
rs141921214
|
0.00289
|
NM_133459.4(CCBE1):c.*4498T>C
|
rs146222689
|
0.00247
|
NM_133459.4(CCBE1):c.*2178C>T
|
rs535062443
|
0.00239
|
NM_133459.4(CCBE1):c.*3080A>G
|
rs147056520
|
0.00225
|
NM_133459.4(CCBE1):c.*2728A>G
|
rs150355335
|
0.00163
|
NM_133459.4(CCBE1):c.1064A>C (p.Lys355Thr)
|
rs139059968
|
0.00127
|
NM_133459.4(CCBE1):c.431C>T (p.Thr144Met)
|
rs147974432
|
0.00096
|
NM_133459.4(CCBE1):c.*3931G>A
|
rs187148297
|
0.00091
|
NM_133459.4(CCBE1):c.*3710A>G
|
rs371219962
|
0.00061
|
NM_133459.4(CCBE1):c.101C>A (p.Thr34Asn)
|
rs191999971
|
0.00058
|
NM_133459.4(CCBE1):c.519A>G (p.Thr173=)
|
rs141327514
|
0.00055
|
NM_133459.4(CCBE1):c.354A>G (p.Arg118=)
|
rs116239086
|
0.00053
|
NM_133459.4(CCBE1):c.776-19A>T
|
rs374642289
|
0.00053
|
NM_133459.4(CCBE1):c.265+8A>C
|
rs181010692
|
0.00052
|
NM_133459.4(CCBE1):c.557A>G (p.His186Arg)
|
rs115071386
|
0.00036
|
NM_133459.4(CCBE1):c.212+16C>T
|
rs371303348
|
0.00028
|
NM_133459.4(CCBE1):c.966G>A (p.Ala322=)
|
rs144169027
|
0.00024
|
NM_133459.4(CCBE1):c.*20G>A
|
rs372843233
|
0.00021
|
NM_133459.4(CCBE1):c.654+10G>A
|
rs199573616
|
0.00020
|
NM_133459.4(CCBE1):c.810C>T (p.Pro270=)
|
rs151243930
|
0.00020
|
NM_133459.4(CCBE1):c.477C>T (p.Cys159=)
|
rs149268172
|
0.00016
|
NM_133459.4(CCBE1):c.843A>T (p.Pro281=)
|
rs191592668
|
0.00013
|
NM_133459.4(CCBE1):c.*1942T>C
|
rs138525348
|
0.00012
|
NM_133459.4(CCBE1):c.654+13G>C
|
rs769543293
|
0.00012
|
NM_133459.4(CCBE1):c.273C>T (p.Asp91=)
|
rs369006324
|
0.00011
|
NM_133459.4(CCBE1):c.171C>T (p.Tyr57=)
|
rs375674582
|
0.00008
|
NM_133459.4(CCBE1):c.131+10G>A
|
rs755608387
|
0.00007
|
NM_133459.4(CCBE1):c.*19C>T
|
rs376780422
|
0.00006
|
NM_133459.4(CCBE1):c.132-20T>C
|
rs368826749
|
0.00006
|
NM_133459.4(CCBE1):c.432G>T (p.Thr144=)
|
rs766221977
|
0.00006
|
NM_133459.4(CCBE1):c.655-7C>T
|
rs373230073
|
0.00006
|
NM_133459.4(CCBE1):c.1212C>T (p.Phe404=)
|
rs763112456
|
0.00005
|
NM_133459.4(CCBE1):c.129C>T (p.Asp43=)
|
rs772767605
|
0.00005
|
NM_133459.4(CCBE1):c.1005C>T (p.Phe335=)
|
rs568146941
|
0.00004
|
NM_133459.4(CCBE1):c.204A>G (p.Thr68=)
|
rs762304720
|
0.00004
|
NM_133459.4(CCBE1):c.1041T>C (p.Asn347=)
|
rs748817654
|
0.00003
|
NM_133459.4(CCBE1):c.1071C>T (p.Phe357=)
|
rs751850918
|
0.00003
|
NM_133459.4(CCBE1):c.401-17C>T
|
rs1380525573
|
0.00003
|
NM_133459.4(CCBE1):c.84G>T (p.Ala28=)
|
rs964303785
|
0.00003
|
NM_133459.4(CCBE1):c.951+17G>T
|
rs756987434
|
0.00003
|
NM_133459.4(CCBE1):c.1047C>T (p.Ile349=)
|
rs779502589
|
0.00002
|
NM_133459.4(CCBE1):c.189A>G (p.Ser63=)
|
rs141422782
|
0.00002
|
NM_133459.4(CCBE1):c.33T>A (p.Ala11=)
|
rs775045988
|
0.00002
|
NM_133459.4(CCBE1):c.342T>C (p.Tyr114=)
|
rs114504060
|
0.00002
|
NM_133459.4(CCBE1):c.537A>G (p.Lys179=)
|
rs376156676
|
0.00002
|
NM_133459.4(CCBE1):c.543C>T (p.Pro181=)
|
rs1052383328
|
0.00002
|
NM_133459.4(CCBE1):c.776-11T>C
|
rs772791173
|
0.00002
|
NM_133459.4(CCBE1):c.1017A>G (p.Leu339=)
|
rs765502530
|
0.00001
|
NM_133459.4(CCBE1):c.108A>G (p.Arg36=)
|
rs1254568069
|
0.00001
|
NM_133459.4(CCBE1):c.1163A>G (p.Asp388Gly)
|
rs530079482
|
0.00001
|
NM_133459.4(CCBE1):c.12G>A (p.Pro4=)
|
rs1358508660
|
0.00001
|
NM_133459.4(CCBE1):c.132-18C>T
|
rs1454725561
|
0.00001
|
NM_133459.4(CCBE1):c.212+18G>A
|
rs771823200
|
0.00001
|
NM_133459.4(CCBE1):c.282C>T (p.Ala94=)
|
rs201917831
|
0.00001
|
NM_133459.4(CCBE1):c.401-16del
|
rs755869578
|
0.00001
|
NM_133459.4(CCBE1):c.541C>T (p.Pro181Ser)
|
rs116596858
|
0.00001
|
NM_133459.4(CCBE1):c.633C>T (p.Thr211=)
|
rs764676830
|
0.00001
|
NM_133459.4(CCBE1):c.708C>T (p.Asp236=)
|
rs766503507
|
0.00001
|
NM_133459.4(CCBE1):c.738A>G (p.Pro246=)
|
rs201437351
|
0.00001
|
NM_133459.4(CCBE1):c.927G>T (p.Gly309=)
|
rs751100378
|
0.00001
|
NM_133459.4(CCBE1):c.942T>C (p.Asp314=)
|
rs200439896
|
0.00001
|
GRCh37/hg19 18q21.32(chr18:57169991-57303589)x1
|
|
|
NM_133459.4(CCBE1):c.*2403dup
|
|
|
NM_133459.4(CCBE1):c.*2951_*2952dup
|
rs11424706
|
|
NM_133459.4(CCBE1):c.*3853C>T
|
rs145393328
|
|
NM_133459.4(CCBE1):c.*4550AAT[1]
|
rs553910582
|
|
NM_133459.4(CCBE1):c.*519dup
|
rs35018840
|
|
NM_133459.4(CCBE1):c.105C>T (p.Tyr35=)
|
|
|
NM_133459.4(CCBE1):c.1086C>T (p.His362=)
|
rs1910139279
|
|
NM_133459.4(CCBE1):c.1101G>A (p.Glu367=)
|
|
|
NM_133459.4(CCBE1):c.1164C>T (p.Asp388=)
|
|
|
NM_133459.4(CCBE1):c.1173A>G (p.Arg391=)
|
rs1044109324
|
|
NM_133459.4(CCBE1):c.1200C>T (p.Ala400=)
|
|
|
NM_133459.4(CCBE1):c.123C>T (p.Asp41=)
|
rs80008675
|
|
NM_133459.4(CCBE1):c.131+11_131+12insT
|
|
|
NM_133459.4(CCBE1):c.131+14G>A
|
|
|
NM_133459.4(CCBE1):c.131+18C>T
|
|
|
NM_133459.4(CCBE1):c.131+5G>A
|
|
|
NM_133459.4(CCBE1):c.132-14_132-13delinsCT
|
rs2144762326
|
|
NM_133459.4(CCBE1):c.138C>A (p.Ile46=)
|
|
|
NM_133459.4(CCBE1):c.159G>A (p.Ala53=)
|
|
|
NM_133459.4(CCBE1):c.174G>C (p.Pro58=)
|
|
|
NM_133459.4(CCBE1):c.201C>G (p.Thr67=)
|
rs1424630322
|
|
NM_133459.4(CCBE1):c.212+13G>A
|
|
|
NM_133459.4(CCBE1):c.212+19C>A
|
|
|
NM_133459.4(CCBE1):c.212+20G>A
|
|
|
NM_133459.4(CCBE1):c.213-11_213-8del
|
|
|
NM_133459.4(CCBE1):c.213-19A>G
|
|
|
NM_133459.4(CCBE1):c.213-5C>T
|
|
|
NM_133459.4(CCBE1):c.213-7C>G
|
|
|
NM_133459.4(CCBE1):c.234T>C (p.Tyr78=)
|
|
|
NM_133459.4(CCBE1):c.252A>G (p.Gln84=)
|
|
|
NM_133459.4(CCBE1):c.266-11T>C
|
|
|
NM_133459.4(CCBE1):c.267T>C (p.Asp89=)
|
rs2143732737
|
|
NM_133459.4(CCBE1):c.270C>T (p.Tyr90=)
|
|
|
NM_133459.4(CCBE1):c.309G>A (p.Thr103=)
|
|
|
NM_133459.4(CCBE1):c.345G>A (p.Pro115=)
|
|
|
NM_133459.4(CCBE1):c.381G>A (p.Arg127=)
|
|
|
NM_133459.4(CCBE1):c.400+17C>T
|
rs1258539221
|
|
NM_133459.4(CCBE1):c.401-11G>C
|
rs2143722177
|
|
NM_133459.4(CCBE1):c.429G>A (p.Gly143=)
|
|
|
NM_133459.4(CCBE1):c.432G>A (p.Thr144=)
|
|
|
NM_133459.4(CCBE1):c.435G>A (p.Leu145=)
|
|
|
NM_133459.4(CCBE1):c.444C>T (p.His148=)
|
rs2143721870
|
|
NM_133459.4(CCBE1):c.465C>T (p.Gly155=)
|
|
|
NM_133459.4(CCBE1):c.501G>A (p.Arg167=)
|
|
|
NM_133459.4(CCBE1):c.519A>C (p.Thr173=)
|
|
|
NM_133459.4(CCBE1):c.553+18A>G
|
|
|
NM_133459.4(CCBE1):c.553+8G>A
|
|
|
NM_133459.4(CCBE1):c.554-12C>T
|
|
|
NM_133459.4(CCBE1):c.567T>G (p.Ser189=)
|
|
|
NM_133459.4(CCBE1):c.585C>T (p.Ala195=)
|
|
|
NM_133459.4(CCBE1):c.612G>A (p.Glu204=)
|
|
|
NM_133459.4(CCBE1):c.618C>T (p.Tyr206=)
|
|
|
NM_133459.4(CCBE1):c.639G>A (p.Leu213=)
|
|
|
NM_133459.4(CCBE1):c.654+15G>A
|
|
|
NM_133459.4(CCBE1):c.654+20del
|
rs760019600
|
|
NM_133459.4(CCBE1):c.654+4C>G
|
rs770958531
|
|
NM_133459.4(CCBE1):c.654+5G>A
|
rs150596993
|
|
NM_133459.4(CCBE1):c.654+9C>T
|
|
|
NM_133459.4(CCBE1):c.655-10C>A
|
|
|
NM_133459.4(CCBE1):c.655-4G>T
|
|
|
NM_133459.4(CCBE1):c.660T>C (p.Ala220=)
|
|
|
NM_133459.4(CCBE1):c.66G>A (p.Pro22=)
|
|
|
NM_133459.4(CCBE1):c.672C>T (p.Asn224=)
|
|
|
NM_133459.4(CCBE1):c.687G>A (p.Leu229=)
|
|
|
NM_133459.4(CCBE1):c.693G>A (p.Lys231=)
|
|
|
NM_133459.4(CCBE1):c.6G>A (p.Val2=)
|
|
|
NM_133459.4(CCBE1):c.700A>G (p.Thr234Ala)
|
|
|
NM_133459.4(CCBE1):c.717G>A (p.Leu239=)
|
|
|
NM_133459.4(CCBE1):c.727A>G (p.Thr243Ala)
|
|
|
NM_133459.4(CCBE1):c.775+16G>A
|
|
|
NM_133459.4(CCBE1):c.775+17G>A
|
|
|
NM_133459.4(CCBE1):c.775+19A>G
|
|
|
NM_133459.4(CCBE1):c.775+7G>T
|
|
|
NM_133459.4(CCBE1):c.776-8G>C
|
|
|
NM_133459.4(CCBE1):c.792G>A (p.Lys264=)
|
|
|
NM_133459.4(CCBE1):c.828T>A (p.Pro276=)
|
|
|
NM_133459.4(CCBE1):c.882G>A (p.Leu294=)
|
rs2143618879
|
|
NM_133459.4(CCBE1):c.888C>T (p.His296=)
|
|
|
NM_133459.4(CCBE1):c.909C>A (p.Gly303=)
|
|
|
NM_133459.4(CCBE1):c.915+15A>G
|
|
|
NM_133459.4(CCBE1):c.916-19A>C
|
|
|
NM_133459.4(CCBE1):c.916-20C>T
|
|
|
NM_133459.4(CCBE1):c.916-20del
|
|
|
NM_133459.4(CCBE1):c.951+11T>C
|
|
|
NM_133459.4(CCBE1):c.951+7C>T
|
|
|
NM_133459.4(CCBE1):c.952-11T>C
|
|
|
NM_133459.4(CCBE1):c.987+12del
|
rs1248911841
|
|
NM_133459.4(CCBE1):c.987+13_987+14del
|
|
|
NM_133459.4(CCBE1):c.987+17_987+18del
|
|
|
NM_133459.4(CCBE1):c.988-18T>C
|
|
|
NM_133459.4(CCBE1):c.988-19A>T
|
rs1910149176
|
|