NM_018714.3(COG1):c.1712G>A (p.Arg571Gln)
|
rs141750466
|
0.00398
|
NM_018714.3(COG1):c.2304A>G (p.Thr768=)
|
rs147598221
|
0.00134
|
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.1498A>T (p.Ser500Cys)
|
rs143051453
|
0.00058
|
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys)
|
rs201867802
|
0.00021
|
NM_018714.3(COG1):c.2362T>C (p.Ser788Pro)
|
rs546366531
|
0.00016
|
NM_018714.3(COG1):c.2482A>G (p.Lys828Glu)
|
rs1011259443
|
0.00013
|
NM_018714.3(COG1):c.560+15C>T
|
rs201364732
|
0.00013
|
NM_018714.3(COG1):c.265C>T (p.Arg89Cys)
|
rs766457949
|
0.00012
|
NM_018714.3(COG1):c.384G>A (p.Pro128=)
|
rs142827255
|
0.00012
|
NM_018714.3(COG1):c.542C>T (p.Ala181Val)
|
rs534708439
|
0.00012
|
NM_018714.3(COG1):c.2511-5C>G
|
rs201123101
|
0.00011
|
NM_018714.3(COG1):c.2619+11T>A
|
rs144115463
|
0.00011
|
NM_018714.3(COG1):c.1688C>T (p.Ala563Val)
|
rs375617141
|
0.00010
|
NM_018714.3(COG1):c.1484G>A (p.Arg495Gln)
|
rs149030357
|
0.00009
|
NM_018714.3(COG1):c.1722C>T (p.Ser574=)
|
rs149888309
|
0.00009
|
NM_018714.3(COG1):c.2485A>C (p.Ser829Arg)
|
rs199752799
|
0.00009
|
NM_018714.3(COG1):c.838C>A (p.Leu280Met)
|
rs140691967
|
0.00009
|
NM_018714.3(COG1):c.2752A>G (p.Met918Val)
|
rs201733537
|
0.00008
|
NM_018714.3(COG1):c.1744G>A (p.Val582Met)
|
rs778769386
|
0.00007
|
NM_018714.3(COG1):c.1982T>G (p.Ile661Ser)
|
rs139676777
|
0.00006
|
NM_018714.3(COG1):c.728A>G (p.Asn243Ser)
|
rs368856790
|
0.00006
|
NM_018714.3(COG1):c.2666G>A (p.Arg889Gln)
|
rs148773959
|
0.00005
|
NM_018714.3(COG1):c.1757G>A (p.Arg586Gln)
|
rs769310036
|
0.00004
|
NM_018714.3(COG1):c.2074-3C>G
|
rs372888977
|
0.00004
|
NM_018714.3(COG1):c.427G>A (p.Ala143Thr)
|
rs747933899
|
0.00004
|
NM_018714.3(COG1):c.655G>C (p.Glu219Gln)
|
rs201963725
|
0.00004
|
NM_018714.3(COG1):c.2617T>G (p.Ser873Ala)
|
rs139330442
|
0.00003
|
NM_018714.3(COG1):c.1367C>G (p.Thr456Ser)
|
rs140675600
|
0.00002
|
NM_018714.3(COG1):c.1784G>T (p.Gly595Val)
|
rs752197597
|
0.00002
|
NM_018714.3(COG1):c.1890G>A (p.Gln630=)
|
rs146046236
|
0.00002
|
NM_018714.3(COG1):c.2665C>T (p.Arg889Trp)
|
rs144316008
|
0.00002
|
NM_018714.3(COG1):c.394T>C (p.Trp132Arg)
|
rs569882797
|
0.00002
|
NM_018714.3(COG1):c.1318A>G (p.Ser440Gly)
|
rs886053369
|
0.00001
|
NM_018714.3(COG1):c.1462G>T (p.Ala488Ser)
|
rs1451680348
|
0.00001
|
NM_018714.3(COG1):c.1474G>A (p.Val492Met)
|
rs565847659
|
0.00001
|
NM_018714.3(COG1):c.1480A>G (p.Asn494Asp)
|
rs779677895
|
0.00001
|
NM_018714.3(COG1):c.1504G>A (p.Gly502Ser)
|
rs770925715
|
0.00001
|
NM_018714.3(COG1):c.1621T>A (p.Ser541Thr)
|
rs1485609633
|
0.00001
|
NM_018714.3(COG1):c.1689G>A (p.Ala563=)
|
rs1313968056
|
0.00001
|
NM_018714.3(COG1):c.1695C>T (p.Thr565=)
|
rs760702621
|
0.00001
|
NM_018714.3(COG1):c.1723G>A (p.Val575Met)
|
rs755592132
|
0.00001
|
NM_018714.3(COG1):c.1750T>C (p.Cys584Arg)
|
rs1230710369
|
0.00001
|
NM_018714.3(COG1):c.1834C>A (p.Leu612Ile)
|
rs936131075
|
0.00001
|
NM_018714.3(COG1):c.2035G>A (p.Val679Met)
|
rs1229728305
|
0.00001
|
NM_018714.3(COG1):c.2042G>A (p.Gly681Asp)
|
rs766057419
|
0.00001
|
NM_018714.3(COG1):c.2368G>C (p.Glu790Gln)
|
rs749884441
|
0.00001
|
NM_018714.3(COG1):c.2382+4G>A
|
rs1047192668
|
0.00001
|
NM_018714.3(COG1):c.2546T>C (p.Ile849Thr)
|
rs138801104
|
0.00001
|
NM_018714.3(COG1):c.2600G>A (p.Arg867His)
|
rs374341080
|
0.00001
|
NM_018714.3(COG1):c.2675C>T (p.Thr892Met)
|
rs751977123
|
0.00001
|
NM_018714.3(COG1):c.2682C>T (p.Asn894=)
|
rs781686684
|
0.00001
|
NM_018714.3(COG1):c.2791G>A (p.Glu931Lys)
|
rs774479733
|
0.00001
|
NM_018714.3(COG1):c.505G>A (p.Val169Ile)
|
rs761121843
|
0.00001
|
NM_018714.3(COG1):c.671G>A (p.Arg224His)
|
rs1434730052
|
0.00001
|
NM_018714.3(COG1):c.791C>T (p.Thr264Ile)
|
rs367884440
|
0.00001
|
NM_018714.3(COG1):c.828G>T (p.Leu276Phe)
|
rs769317853
|
0.00001
|
NC_000017.10:g.(?_71189189)_(71189543_?)dup
|
|
|
NM_018714.3(COG1):c.1288A>G (p.Thr430Ala)
|
|
|
NM_018714.3(COG1):c.1343C>T (p.Ala448Val)
|
rs1372546537
|
|
NM_018714.3(COG1):c.1406ACA[1] (p.Asn470del)
|
rs1354666647
|
|
NM_018714.3(COG1):c.1446C>G (p.Asp482Glu)
|
|
|
NM_018714.3(COG1):c.1456G>A (p.Asp486Asn)
|
|
|
NM_018714.3(COG1):c.1516A>G (p.Lys506Glu)
|
|
|
NM_018714.3(COG1):c.1523A>G (p.Gln508Arg)
|
rs2145097990
|
|
NM_018714.3(COG1):c.1590T>G (p.Asp530Glu)
|
|
|
NM_018714.3(COG1):c.1711C>T (p.Arg571Trp)
|
|
|
NM_018714.3(COG1):c.1742T>C (p.Ile581Thr)
|
rs2145098238
|
|
NM_018714.3(COG1):c.1771A>G (p.Ser591Gly)
|
rs2145098272
|
|
NM_018714.3(COG1):c.1781_1782delinsGT (p.Glu594Gly)
|
rs2145098299
|
|
NM_018714.3(COG1):c.1782G>C (p.Glu594Asp)
|
rs1037256
|
|
NM_018714.3(COG1):c.1813A>G (p.Ser605Gly)
|
|
|
NM_018714.3(COG1):c.1826A>C (p.His609Pro)
|
|
|
NM_018714.3(COG1):c.1935G>T (p.Glu645Asp)
|
rs772385793
|
|
NM_018714.3(COG1):c.1952A>G (p.Lys651Arg)
|
|
|
NM_018714.3(COG1):c.1988C>T (p.Thr663Ile)
|
rs2145098550
|
|
NM_018714.3(COG1):c.1993G>T (p.Ala665Ser)
|
|
|
NM_018714.3(COG1):c.2007G>C (p.Glu669Asp)
|
|
|
NM_018714.3(COG1):c.2008G>A (p.Val670Ile)
|
|
|
NM_018714.3(COG1):c.2021TCC[1] (p.Leu675del)
|
rs398124346
|
|
NM_018714.3(COG1):c.2057G>T (p.Ser686Ile)
|
|
|
NM_018714.3(COG1):c.2060G>C (p.Ser687Thr)
|
rs1232713937
|
|
NM_018714.3(COG1):c.2116G>C (p.Ala706Pro)
|
|
|
NM_018714.3(COG1):c.2183_2184delinsCA (p.Gly728Ala)
|
rs1599328658
|
|
NM_018714.3(COG1):c.2189G>T (p.Ser730Ile)
|
rs2145100344
|
|
NM_018714.3(COG1):c.218C>A (p.Ala73Asp)
|
|
|
NM_018714.3(COG1):c.2216C>T (p.Ala739Val)
|
|
|
NM_018714.3(COG1):c.2383-17_2383-16inv
|
|
|
NM_018714.3(COG1):c.2392G>A (p.Ala798Thr)
|
|
|
NM_018714.3(COG1):c.2413C>G (p.Arg805Gly)
|
|
|
NM_018714.3(COG1):c.2414G>A (p.Arg805Gln)
|
|
|
NM_018714.3(COG1):c.2486G>A (p.Ser829Asn)
|
|
|
NM_018714.3(COG1):c.2492G>A (p.Arg831Gln)
|
|
|
NM_018714.3(COG1):c.2510G>C (p.Arg837Thr)
|
rs2061367152
|
|
NM_018714.3(COG1):c.2515G>C (p.Glu839Gln)
|
|
|
NM_018714.3(COG1):c.2525C>T (p.Thr842Ile)
|
|
|
NM_018714.3(COG1):c.2555T>C (p.Phe852Ser)
|
|
|
NM_018714.3(COG1):c.2575C>T (p.Pro859Ser)
|
rs2145105028
|
|
NM_018714.3(COG1):c.2597A>G (p.His866Arg)
|
rs555212855
|
|
NM_018714.3(COG1):c.2605G>A (p.Val869Met)
|
rs886053370
|
|
NM_018714.3(COG1):c.2606T>G (p.Val869Gly)
|
rs1599331791
|
|
NM_018714.3(COG1):c.2618C>T (p.Ser873Phe)
|
|
|
NM_018714.3(COG1):c.2626_2629dup (p.Gly877fs)
|
rs1568298983
|
|
NM_018714.3(COG1):c.2659G>A (p.Ala887Thr)
|
|
|
NM_018714.3(COG1):c.2675C>G (p.Thr892Arg)
|
rs751977123
|
|
NM_018714.3(COG1):c.2681A>G (p.Asn894Ser)
|
|
|
NM_018714.3(COG1):c.2719A>T (p.Ser907Cys)
|
rs1468033790
|
|
NM_018714.3(COG1):c.2729+3_2729+9del
|
rs771485996
|
|
NM_018714.3(COG1):c.2747T>C (p.Leu916Pro)
|
|
|
NM_018714.3(COG1):c.2791G>T (p.Glu931Ter)
|
rs774479733
|
|
NM_018714.3(COG1):c.334_336del (p.Glu112del)
|
|
|
NM_018714.3(COG1):c.403A>T (p.Met135Leu)
|
|
|
NM_018714.3(COG1):c.448T>A (p.Cys150Ser)
|
|
|
NM_018714.3(COG1):c.494G>A (p.Arg165Gln)
|
rs777018719
|
|
NM_018714.3(COG1):c.509T>C (p.Leu170Pro)
|
rs2145092629
|
|
NM_018714.3(COG1):c.511T>C (p.Ser171Pro)
|
|
|
NM_018714.3(COG1):c.514C>T (p.Arg172Trp)
|
|
|
NM_018714.3(COG1):c.542_543inv (p.Ala181Val)
|
|
|
NM_018714.3(COG1):c.559C>T (p.Arg187Trp)
|
|
|
NM_018714.3(COG1):c.560G>A (p.Arg187Gln)
|
|
|
NM_018714.3(COG1):c.561-6T>G
|
|
|
NM_018714.3(COG1):c.565A>G (p.Thr189Ala)
|
rs193248551
|
|
NM_018714.3(COG1):c.599G>A (p.Cys200Tyr)
|
rs2145093008
|
|
NM_018714.3(COG1):c.599G>C (p.Cys200Ser)
|
|
|
NM_018714.3(COG1):c.622G>A (p.Val208Met)
|
|
|
NM_018714.3(COG1):c.626C>T (p.Ala209Val)
|
|
|
NM_018714.3(COG1):c.628G>A (p.Glu210Lys)
|
|
|
NM_018714.3(COG1):c.628G>C (p.Glu210Gln)
|
rs567533944
|
|
NM_018714.3(COG1):c.649C>G (p.Leu217Val)
|
|
|
NM_018714.3(COG1):c.701G>A (p.Arg234Lys)
|
|
|
NM_018714.3(COG1):c.733C>T (p.Pro245Ser)
|
rs1486692795
|
|
NM_018714.3(COG1):c.833_835del (p.Glu278del)
|
|
|
NM_018714.3(COG1):c.847G>A (p.Asp283Asn)
|
rs2145093457
|
|
NM_018714.3(COG1):c.850C>T (p.Pro284Ser)
|
|
|
NM_018714.3(COG1):c.903G>C (p.Gln301His)
|
rs117208167
|
|
NM_018714.3(COG1):c.907C>T (p.Pro303Ser)
|
rs750659961
|
|
NM_018714.3(COG1):c.913G>A (p.Gly305Arg)
|
|
|