NM_018714.3(COG1):c.1498A>T (p.Ser500Cys)
|
rs143051453
|
0.00058
|
NM_018714.3(COG1):c.2900C>G (p.Pro967Arg)
|
rs147588256
|
0.00034
|
NM_018714.3(COG1):c.1117G>A (p.Val373Met)
|
rs201886877
|
0.00022
|
NM_018714.3(COG1):c.1243G>C (p.Glu415Gln)
|
rs142830395
|
0.00021
|
NM_018714.3(COG1):c.1132G>C (p.Gly378Arg)
|
rs138121131
|
0.00020
|
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.265C>T (p.Arg89Cys)
|
rs766457949
|
0.00012
|
NM_018714.3(COG1):c.1688C>T (p.Ala563Val)
|
rs375617141
|
0.00010
|
NM_018714.3(COG1):c.2822G>A (p.Arg941His)
|
rs759050295
|
0.00010
|
NM_018714.3(COG1):c.1484G>A (p.Arg495Gln)
|
rs149030357
|
0.00009
|
NM_018714.3(COG1):c.2222C>T (p.Pro741Leu)
|
rs200395052
|
0.00009
|
NM_018714.3(COG1):c.2262G>C (p.Gln754His)
|
rs756535197
|
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.2818G>A (p.Ala940Thr)
|
rs144896007
|
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.2281G>A (p.Gly761Ser)
|
rs771789779
|
0.00006
|
NM_018714.3(COG1):c.2890A>G (p.Thr964Ala)
|
rs777073858
|
0.00006
|
NM_018714.3(COG1):c.728A>G (p.Asn243Ser)
|
rs368856790
|
0.00006
|
NM_018714.3(COG1):c.164G>C (p.Arg55Pro)
|
rs751859972
|
0.00005
|
NM_018714.3(COG1):c.2666G>A (p.Arg889Gln)
|
rs148773959
|
0.00005
|
NM_018714.3(COG1):c.914G>A (p.Gly305Glu)
|
rs375438969
|
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.2836G>A (p.Asp946Asn)
|
rs139440017
|
0.00004
|
NM_018714.3(COG1):c.2929A>G (p.Ser977Gly)
|
rs757086937
|
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.47G>T (p.Arg16Leu)
|
rs527295185
|
0.00003
|
NM_018714.3(COG1):c.1784G>T (p.Gly595Val)
|
rs752197597
|
0.00002
|
NM_018714.3(COG1):c.2665C>T (p.Arg889Trp)
|
rs144316008
|
0.00002
|
NM_018714.3(COG1):c.2891C>T (p.Thr964Met)
|
rs767105962
|
0.00002
|
NM_018714.3(COG1):c.394T>C (p.Trp132Arg)
|
rs569882797
|
0.00002
|
NM_018714.3(COG1):c.1070+3A>G
|
rs201281586
|
0.00001
|
NM_018714.3(COG1):c.1071G>T (p.Met357Ile)
|
rs761343140
|
0.00001
|
NM_018714.3(COG1):c.1108C>T (p.Leu370Phe)
|
rs1429642320
|
0.00001
|
NM_018714.3(COG1):c.1153G>A (p.Ala385Thr)
|
rs770355508
|
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.1504G>A (p.Gly502Ser)
|
rs770925715
|
0.00001
|
NM_018714.3(COG1):c.1723G>A (p.Val575Met)
|
rs755592132
|
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.2791G>A (p.Glu931Lys)
|
rs774479733
|
0.00001
|
NM_018714.3(COG1):c.2848C>T (p.Pro950Ser)
|
rs779987364
|
0.00001
|
NM_018714.3(COG1):c.2866C>T (p.Gln956Ter)
|
rs748475815
|
0.00001
|
NM_018714.3(COG1):c.311A>G (p.Gln104Arg)
|
rs1285029408
|
0.00001
|
NM_018714.3(COG1):c.505G>A (p.Val169Ile)
|
rs761121843
|
0.00001
|
NM_018714.3(COG1):c.79G>T (p.Ala27Ser)
|
rs529636950
|
0.00001
|
NM_018714.3(COG1):c.828G>T (p.Leu276Phe)
|
rs769317853
|
0.00001
|
NM_018714.3(COG1):c.85G>A (p.Glu29Lys)
|
rs1032371996
|
0.00001
|
NM_018714.3(COG1):c.988G>A (p.Glu330Lys)
|
rs779924491
|
0.00001
|
NC_000017.10:g.(?_71189189)_(71189543_?)dup
|
|
|
NM_001098832.2(VCF1):c.*1231_*1235del
|
|
|
NM_018714.3(COG1):c.1139C>T (p.Ala380Val)
|
|
|
NM_018714.3(COG1):c.1183A>C (p.Thr395Pro)
|
|
|
NM_018714.3(COG1):c.1207T>C (p.Cys403Arg)
|
|
|
NM_018714.3(COG1):c.125A>C (p.Glu42Ala)
|
|
|
NM_018714.3(COG1):c.1288A>G (p.Thr430Ala)
|
|
|
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.153G>A (p.Met51Ile)
|
rs976164079
|
|
NM_018714.3(COG1):c.1590T>G (p.Asp530Glu)
|
|
|
NM_018714.3(COG1):c.163C>T (p.Arg55Trp)
|
|
|
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.180C>G (p.Ile60Met)
|
|
|
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.1A>G (p.Met1Val)
|
|
|
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.2216C>T (p.Ala739Val)
|
|
|
NM_018714.3(COG1):c.2222C>A (p.Pro741Gln)
|
rs200395052
|
|
NM_018714.3(COG1):c.2225C>A (p.Ser742Tyr)
|
|
|
NM_018714.3(COG1):c.2233G>A (p.Val745Ile)
|
rs2061356029
|
|
NM_018714.3(COG1):c.2272C>T (p.Arg758Trp)
|
rs146952271
|
|
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.2606T>G (p.Val869Gly)
|
rs1599331791
|
|
NM_018714.3(COG1):c.2618C>T (p.Ser873Phe)
|
|
|
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.272G>T (p.Arg91Leu)
|
|
|
NM_018714.3(COG1):c.2747T>C (p.Leu916Pro)
|
|
|
NM_018714.3(COG1):c.2816dup (p.Ala940fs)
|
rs776834154
|
|
NM_018714.3(COG1):c.2825C>T (p.Ser942Phe)
|
|
|
NM_018714.3(COG1):c.2840C>T (p.Pro947Leu)
|
rs755921036
|
|
NM_018714.3(COG1):c.2867A>C (p.Gln956Pro)
|
rs2145112419
|
|
NM_018714.3(COG1):c.2872G>A (p.Val958Ile)
|
|
|
NM_018714.3(COG1):c.2883A>C (p.Glu961Asp)
|
rs2145112491
|
|
NM_018714.3(COG1):c.305G>C (p.Arg102Pro)
|
rs1305832253
|
|
NM_018714.3(COG1):c.308C>T (p.Ala103Val)
|
|
|
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.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.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.907C>T (p.Pro303Ser)
|
rs750659961
|
|
NM_018714.3(COG1):c.913G>A (p.Gly305Arg)
|
|
|
NM_018714.3(COG1):c.980C>T (p.Ser327Phe)
|
rs2145096200
|
|
NM_018714.3(COG1):c.985G>A (p.Val329Ile)
|
rs778591192
|
|