NM_018714.3(COG1):c.529A>G (p.Ile177Val)
|
rs150001655
|
0.00545
|
NM_018714.3(COG1):c.2620-10T>G
|
rs144989249
|
0.00513
|
NM_018714.3(COG1):c.522T>C (p.Pro174=)
|
rs75460067
|
0.00469
|
NM_018714.3(COG1):c.401C>T (p.Ser134Leu)
|
rs146066919
|
0.00125
|
NM_018714.3(COG1):c.1282-3T>C
|
rs188853520
|
0.00064
|
NM_018714.3(COG1):c.1710G>A (p.Leu570=)
|
rs139407216
|
0.00047
|
NM_018714.3(COG1):c.2418G>A (p.Ala806=)
|
rs141305065
|
0.00046
|
NM_018714.3(COG1):c.743-10C>G
|
rs185592690
|
0.00046
|
NM_018714.3(COG1):c.1350G>A (p.Gln450=)
|
rs143699348
|
0.00038
|
NM_018714.3(COG1):c.2406C>T (p.Thr802=)
|
rs149083729
|
0.00024
|
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys)
|
rs201867802
|
0.00021
|
NM_018714.3(COG1):c.2073+17C>T
|
rs375124338
|
0.00017
|
NM_018714.3(COG1):c.560+15C>T
|
rs201364732
|
0.00013
|
NM_018714.3(COG1):c.1912A>C (p.Ser638Arg)
|
rs763484856
|
0.00012
|
NM_018714.3(COG1):c.384G>A (p.Pro128=)
|
rs142827255
|
0.00012
|
NM_018714.3(COG1):c.2511-5C>G
|
rs201123101
|
0.00011
|
NM_018714.3(COG1):c.1722C>T (p.Ser574=)
|
rs149888309
|
0.00009
|
NM_018714.3(COG1):c.546C>T (p.Ala182=)
|
rs768914690
|
0.00009
|
NM_018714.3(COG1):c.613G>A (p.Asp205Asn)
|
rs141474045
|
0.00009
|
NM_018714.3(COG1):c.402G>A (p.Ser134=)
|
rs765699770
|
0.00008
|
NM_018714.3(COG1):c.2620-11_2620-10del
|
rs780690910
|
0.00007
|
NM_018714.3(COG1):c.258C>T (p.Tyr86=)
|
rs60688184
|
0.00006
|
NM_018714.3(COG1):c.575A>C (p.His192Pro)
|
rs141340733
|
0.00005
|
NM_018714.3(COG1):c.2220+18G>C
|
rs1267855413
|
0.00004
|
NM_018714.3(COG1):c.2781C>T (p.Thr927=)
|
rs567297928
|
0.00004
|
NM_018714.3(COG1):c.2790C>T (p.Ile930=)
|
rs770966526
|
0.00003
|
NM_018714.3(COG1):c.1890G>A (p.Gln630=)
|
rs146046236
|
0.00002
|
NM_018714.3(COG1):c.2514T>C (p.Ile838=)
|
rs917892922
|
0.00002
|
NM_018714.3(COG1):c.261C>T (p.Cys87=)
|
rs1187216995
|
0.00001
|
NM_018714.3(COG1):c.2682C>T (p.Asn894=)
|
rs781686684
|
0.00001
|
NM_018714.3(COG1):c.504C>T (p.Pro168=)
|
rs773716192
|
0.00001
|
NM_018714.3(COG1):c.705G>A (p.Lys235=)
|
rs1384297418
|
0.00001
|
NM_018714.3(COG1):c.1282-15C>G
|
|
|
NM_018714.3(COG1):c.1530C>T (p.Ile510=)
|
|
|
NM_018714.3(COG1):c.1578G>A (p.Lys526=)
|
|
|
NM_018714.3(COG1):c.1605C>T (p.Tyr535=)
|
|
|
NM_018714.3(COG1):c.1680C>T (p.Tyr560=)
|
|
|
NM_018714.3(COG1):c.1767A>G (p.Leu589=)
|
rs2145098268
|
|
NM_018714.3(COG1):c.1980C>A (p.Ile660=)
|
|
|
NM_018714.3(COG1):c.2052C>A (p.Val684=)
|
rs2145098651
|
|
NM_018714.3(COG1):c.2124A>C (p.Ser708=)
|
|
|
NM_018714.3(COG1):c.2199C>G (p.Ser733=)
|
|
|
NM_018714.3(COG1):c.2220+14A>G
|
|
|
NM_018714.3(COG1):c.2220+15T>C
|
|
|
NM_018714.3(COG1):c.2220+15T>G
|
|
|
NM_018714.3(COG1):c.2220+18del
|
rs1246223880
|
|
NM_018714.3(COG1):c.2220+9G>A
|
|
|
NM_018714.3(COG1):c.2361C>G (p.Leu787=)
|
|
|
NM_018714.3(COG1):c.2383-10T>C
|
|
|
NM_018714.3(COG1):c.2383-14G>A
|
rs965867949
|
|
NM_018714.3(COG1):c.2484G>A (p.Lys828=)
|
|
|
NM_018714.3(COG1):c.2562G>A (p.Leu854=)
|
|
|
NM_018714.3(COG1):c.2574G>A (p.Thr858=)
|
|
|
NM_018714.3(COG1):c.2619+17A>T
|
|
|
NM_018714.3(COG1):c.2620-13T>C
|
rs2145106371
|
|
NM_018714.3(COG1):c.2620-9G>C
|
rs2061375147
|
|
NM_018714.3(COG1):c.2634G>A (p.Leu878=)
|
|
|
NM_018714.3(COG1):c.2664C>T (p.Pro888=)
|
|
|
NM_018714.3(COG1):c.2676G>A (p.Thr892=)
|
|
|
NM_018714.3(COG1):c.2715A>G (p.Ala905=)
|
|
|
NM_018714.3(COG1):c.2730-18T>C
|
|
|
NM_018714.3(COG1):c.2805+13_2805+20del
|
|
|
NM_018714.3(COG1):c.2805+18G>C
|
|
|
NM_018714.3(COG1):c.316-6C>T
|
|
|
NM_018714.3(COG1):c.316-9C>T
|
|
|
NM_018714.3(COG1):c.327A>G (p.Pro109=)
|
|
|
NM_018714.3(COG1):c.423C>G (p.Leu141=)
|
|
|
NM_018714.3(COG1):c.423C>T (p.Leu141=)
|
|
|
NM_018714.3(COG1):c.426C>T (p.His142=)
|
|
|
NM_018714.3(COG1):c.510C>T (p.Leu170=)
|
|
|
NM_018714.3(COG1):c.549C>T (p.Ala183=)
|
rs1302286767
|
|
NM_018714.3(COG1):c.552C>T (p.Ser184=)
|
|
|
NM_018714.3(COG1):c.560+16G>A
|
|
|
NM_018714.3(COG1):c.560+18A>C
|
|
|
NM_018714.3(COG1):c.560+8G>A
|
|
|
NM_018714.3(COG1):c.561-11_561-9del
|
|
|
NM_018714.3(COG1):c.561-6T>C
|
rs1197833925
|
|
NM_018714.3(COG1):c.573G>T (p.Leu191=)
|
|
|
NM_018714.3(COG1):c.742+14C>G
|
|
|
NM_018714.3(COG1):c.743-4T>C
|
|
|
NM_018714.3(COG1):c.750T>C (p.Gly250=)
|
|
|
NM_018714.3(COG1):c.810T>C (p.His270=)
|
|
|
NM_018714.3(COG1):c.903G>C (p.Gln301His)
|
rs117208167
|
|
NM_018714.3(COG1):c.913+18C>A
|
rs2145093567
|
|
NM_018714.3(COG1):c.913+9T>G
|
|
|