NM_006348.5(COG5):c.538+20T>A
|
rs537674225
|
0.00209
|
NM_006348.5(COG5):c.790T>A (p.Leu264Ile)
|
rs142276972
|
0.00201
|
NM_006348.5(COG5):c.538+21A>T
|
rs568603073
|
0.00197
|
NM_006348.5(COG5):c.50G>T (p.Gly17Val)
|
rs139763861
|
0.00172
|
NM_006348.5(COG5):c.1160G>A (p.Arg387His)
|
rs35258567
|
0.00106
|
NM_006348.5(COG5):c.298C>T (p.Leu100Phe)
|
rs150351852
|
0.00096
|
NM_006348.5(COG5):c.927T>C (p.His309=)
|
rs140684568
|
0.00083
|
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg)
|
rs189560910
|
0.00056
|
NM_006348.5(COG5):c.1750-14T>G
|
rs199592702
|
0.00038
|
NM_006348.5(COG5):c.264A>G (p.Ala88=)
|
rs113660545
|
0.00036
|
NM_006348.5(COG5):c.117C>T (p.Asn39=)
|
rs138518242
|
0.00029
|
NM_006348.5(COG5):c.2401T>C (p.Ser801Pro)
|
rs141942249
|
0.00027
|
NM_006348.5(COG5):c.2485C>T (p.Gln829Ter)
|
rs549788738
|
0.00027
|
NM_006348.5(COG5):c.1725G>A (p.Glu575=)
|
rs145128460
|
0.00017
|
NM_006348.5(COG5):c.1027-12T>G
|
rs752334970
|
0.00016
|
NM_006348.5(COG5):c.2295+8A>G
|
rs377392848
|
0.00016
|
NM_006348.5(COG5):c.454T>C (p.Leu152=)
|
rs200107630
|
0.00016
|
NM_006348.5(COG5):c.1686+7A>G
|
rs373280339
|
0.00013
|
NM_006348.5(COG5):c.2232G>A (p.Pro744=)
|
rs374402677
|
0.00011
|
NM_006348.5(COG5):c.267A>G (p.Gln89=)
|
rs763508355
|
0.00011
|
NM_006348.5(COG5):c.2088A>C (p.Ala696=)
|
rs372319280
|
0.00010
|
NM_006348.5(COG5):c.1416G>A (p.Pro472=)
|
rs149574256
|
0.00009
|
NM_006348.5(COG5):c.2215T>C (p.Leu739=)
|
rs374796275
|
0.00009
|
NM_006348.5(COG5):c.292+14A>G
|
rs374007477
|
0.00009
|
NM_006348.5(COG5):c.768A>T (p.Leu256Phe)
|
rs376958885
|
0.00008
|
NM_006348.5(COG5):c.1313+15T>C
|
rs201626650
|
0.00007
|
NM_006348.5(COG5):c.2168+9G>A
|
rs746107488
|
0.00006
|
NM_006348.5(COG5):c.2169-16T>A
|
rs776440647
|
0.00006
|
NM_006348.5(COG5):c.2169-6G>A
|
rs200895224
|
0.00006
|
NM_006348.5(COG5):c.348-16C>T
|
rs780403880
|
0.00006
|
NM_006348.5(COG5):c.1038G>A (p.Pro346=)
|
rs148802109
|
0.00005
|
NM_006348.5(COG5):c.-4C>T
|
rs1371412798
|
0.00004
|
NM_006348.5(COG5):c.102T>C (p.Tyr34=)
|
rs777099343
|
0.00004
|
NM_006348.5(COG5):c.141T>C (p.Tyr47=)
|
rs766371051
|
0.00004
|
NM_006348.5(COG5):c.684C>T (p.Val228=)
|
rs773862978
|
0.00004
|
NM_006348.5(COG5):c.159T>C (p.His53=)
|
rs368148545
|
0.00003
|
NM_006348.5(COG5):c.1657T>C (p.Leu553=)
|
rs1016865948
|
0.00003
|
NM_006348.5(COG5):c.1750-11T>C
|
rs368740481
|
0.00003
|
NM_006348.5(COG5):c.1956T>C (p.Phe652=)
|
rs1358993369
|
0.00003
|
NM_006348.5(COG5):c.2433A>C (p.Ala811=)
|
rs775853693
|
0.00003
|
NM_006348.5(COG5):c.390C>T (p.Ala130=)
|
rs575783486
|
0.00003
|
NM_006348.5(COG5):c.538+8T>G
|
rs1018824602
|
0.00003
|
NM_006348.5(COG5):c.1027-5C>T
|
rs767208462
|
0.00002
|
NM_006348.5(COG5):c.1845C>T (p.Asp615=)
|
rs746373863
|
0.00002
|
NM_006348.5(COG5):c.216C>T (p.Asp72=)
|
rs143972347
|
0.00002
|
NM_006348.5(COG5):c.2295+18G>C
|
rs748577968
|
0.00002
|
NM_006348.5(COG5):c.399A>T (p.Ala133=)
|
rs375237727
|
0.00002
|
NM_006348.5(COG5):c.418-6del
|
rs766142910
|
0.00002
|
NM_006348.5(COG5):c.639G>A (p.Lys213=)
|
rs925413684
|
0.00002
|
NM_006348.5(COG5):c.836-4C>A
|
rs1001144225
|
0.00002
|
NM_006348.5(COG5):c.-1C>T
|
rs746011817
|
0.00001
|
NM_006348.5(COG5):c.1027-10T>C
|
rs1449874316
|
0.00001
|
NM_006348.5(COG5):c.1071T>C (p.Thr357=)
|
rs773266850
|
0.00001
|
NM_006348.5(COG5):c.1113G>A (p.Ser371=)
|
rs768870825
|
0.00001
|
NM_006348.5(COG5):c.1153T>C (p.Leu385=)
|
rs746295764
|
0.00001
|
NM_006348.5(COG5):c.1191A>G (p.Gln397=)
|
rs758096164
|
0.00001
|
NM_006348.5(COG5):c.1389C>T (p.Phe463=)
|
rs748974685
|
0.00001
|
NM_006348.5(COG5):c.1452T>C (p.Asp484=)
|
rs1228777798
|
0.00001
|
NM_006348.5(COG5):c.1569G>A (p.Glu523=)
|
rs1375308939
|
0.00001
|
NM_006348.5(COG5):c.1575+17A>G
|
rs775465748
|
0.00001
|
NM_006348.5(COG5):c.1749+7G>A
|
rs906116599
|
0.00001
|
NM_006348.5(COG5):c.210G>A (p.Gln70=)
|
rs779941468
|
0.00001
|
NM_006348.5(COG5):c.211T>C (p.Leu71=)
|
rs202088548
|
0.00001
|
NM_006348.5(COG5):c.2173C>T (p.Leu725=)
|
rs547247532
|
0.00001
|
NM_006348.5(COG5):c.2295+13G>A
|
rs1026401988
|
0.00001
|
NM_006348.5(COG5):c.2296-15G>C
|
rs751658237
|
0.00001
|
NM_006348.5(COG5):c.234+14T>C
|
rs553558599
|
0.00001
|
NM_006348.5(COG5):c.235-19A>G
|
rs948843542
|
0.00001
|
NM_006348.5(COG5):c.347+19T>C
|
rs754323784
|
0.00001
|
NM_006348.5(COG5):c.348-13T>A
|
rs1416698251
|
0.00001
|
NM_006348.5(COG5):c.417+12C>A
|
rs757628356
|
0.00001
|
NM_006348.5(COG5):c.486G>A (p.Leu162=)
|
rs759656787
|
0.00001
|
NM_006348.5(COG5):c.492G>A (p.Gly164=)
|
rs1302971089
|
0.00001
|
NM_006348.5(COG5):c.495A>G (p.Gly165=)
|
rs1282017982
|
0.00001
|
NM_006348.5(COG5):c.538+10T>G
|
rs769195866
|
0.00001
|
NM_006348.5(COG5):c.60G>A (p.Ala20=)
|
rs374761349
|
0.00001
|
NM_006348.5(COG5):c.670-16C>T
|
rs1189863857
|
0.00001
|
NM_006348.5(COG5):c.670-20C>G
|
rs761111529
|
0.00001
|
NM_006348.5(COG5):c.836-9C>T
|
rs757452204
|
0.00001
|
NM_006348.5(COG5):c.94+10C>G
|
rs1243460444
|
0.00001
|
NM_006348.5(COG5):c.94+12G>T
|
rs781367888
|
0.00001
|
NM_006348.5(COG5):c.949-17C>T
|
rs573722041
|
0.00001
|
NM_006348.5(COG5):c.951A>C (p.Val317=)
|
rs1365617209
|
0.00001
|
NM_006348.5(COG5):c.963A>G (p.Gln321=)
|
rs375846157
|
0.00001
|
NC_000007.14:g.107563921G>A
|
rs201256361
|
|
NM_006348.3(COG5):c.57T>C (p.Arg19=)
|
|
|
NM_006348.3(COG5):c.66T>C (p.Ala22=)
|
|
|
NM_006348.5(COG5):c.-13G>T
|
rs915925086
|
|
NM_006348.5(COG5):c.1014A>G (p.Glu338=)
|
|
|
NM_006348.5(COG5):c.1026+12G>A
|
rs1474242413
|
|
NM_006348.5(COG5):c.1026+17A>G
|
|
|
NM_006348.5(COG5):c.1027-11G>A
|
|
|
NM_006348.5(COG5):c.1027-12T>C
|
|
|
NM_006348.5(COG5):c.1027-17T>C
|
|
|
NM_006348.5(COG5):c.1089A>G (p.Gln363=)
|
|
|
NM_006348.5(COG5):c.1108+10C>G
|
|
|
NM_006348.5(COG5):c.1108+11T>C
|
|
|
NM_006348.5(COG5):c.1108+13C>T
|
rs772490075
|
|
NM_006348.5(COG5):c.1109-18T>C
|
|
|
NM_006348.5(COG5):c.1109-4G>A
|
|
|
NM_006348.5(COG5):c.1170T>C (p.Asn390=)
|
rs1414561536
|
|
NM_006348.5(COG5):c.1224T>C (p.Asn408=)
|
|
|
NM_006348.5(COG5):c.1227A>G (p.Ala409=)
|
|
|
NM_006348.5(COG5):c.1239A>G (p.Thr413=)
|
|
|
NM_006348.5(COG5):c.1239A>T (p.Thr413=)
|
|
|
NM_006348.5(COG5):c.1281A>G (p.Gln427=)
|
|
|
NM_006348.5(COG5):c.1284T>C (p.Asp428=)
|
|
|
NM_006348.5(COG5):c.12C>T (p.Gly4=)
|
rs1222798933
|
|
NM_006348.5(COG5):c.1302G>A (p.Lys434=)
|
rs200021706
|
|
NM_006348.5(COG5):c.1305A>G (p.Pro435=)
|
rs929845700
|
|
NM_006348.5(COG5):c.1313+14A>G
|
|
|
NM_006348.5(COG5):c.1314-4A>G
|
rs2116814535
|
|
NM_006348.5(COG5):c.1314-6C>A
|
|
|
NM_006348.5(COG5):c.1326T>A (p.Ala442=)
|
|
|
NM_006348.5(COG5):c.1341A>G (p.Leu447=)
|
|
|
NM_006348.5(COG5):c.1344A>G (p.Gln448=)
|
rs777072585
|
|
NM_006348.5(COG5):c.1350T>C (p.Tyr450=)
|
rs1805375974
|
|
NM_006348.5(COG5):c.1353G>A (p.Glu451=)
|
|
|
NM_006348.5(COG5):c.1365A>G (p.Leu455=)
|
|
|
NM_006348.5(COG5):c.1476-14T>G
|
|
|
NM_006348.5(COG5):c.1476-19C>T
|
rs562431916
|
|
NM_006348.5(COG5):c.1476-4C>T
|
|
|
NM_006348.5(COG5):c.1482A>G (p.Leu494=)
|
|
|
NM_006348.5(COG5):c.1485T>C (p.Asn495=)
|
|
|
NM_006348.5(COG5):c.150A>G (p.Gln50=)
|
|
|
NM_006348.5(COG5):c.1554C>T (p.Tyr518=)
|
|
|
NM_006348.5(COG5):c.1566A>G (p.Ser522=)
|
|
|
NM_006348.5(COG5):c.1575+13_1575+16del
|
|
|
NM_006348.5(COG5):c.1581C>T (p.Ser527=)
|
|
|
NM_006348.5(COG5):c.15C>T (p.Gly5=)
|
rs202123650
|
|
NM_006348.5(COG5):c.1602G>A (p.Gln534=)
|
rs759544719
|
|
NM_006348.5(COG5):c.165T>C (p.Ala55=)
|
rs2129179500
|
|
NM_006348.5(COG5):c.1686+10_1686+14del
|
|
|
NM_006348.5(COG5):c.1686+12A>G
|
rs753411527
|
|
NM_006348.5(COG5):c.1686+13T>C
|
rs2116623196
|
|
NM_006348.5(COG5):c.1686+17G>T
|
|
|
NM_006348.5(COG5):c.1686+20T>G
|
|
|
NM_006348.5(COG5):c.1687-7G>A
|
rs1265604878
|
|
NM_006348.5(COG5):c.1719A>G (p.Ala573=)
|
rs1802913835
|
|
NM_006348.5(COG5):c.1746A>G (p.Leu582=)
|
|
|
NM_006348.5(COG5):c.1749+7G>T
|
|
|
NM_006348.5(COG5):c.1750-13T>A
|
|
|
NM_006348.5(COG5):c.1750-19del
|
|
|
NM_006348.5(COG5):c.1750-20T>G
|
|
|
NM_006348.5(COG5):c.1773T>C (p.Asn591=)
|
rs1261977502
|
|
NM_006348.5(COG5):c.1776T>A (p.Ala592=)
|
|
|
NM_006348.5(COG5):c.1779G>T (p.Val593=)
|
rs2116550198
|
|
NM_006348.5(COG5):c.180A>G (p.Gln60=)
|
rs1803456564
|
|
NM_006348.5(COG5):c.1839A>G (p.Gln613=)
|
|
|
NM_006348.5(COG5):c.1854-16G>A
|
|
|
NM_006348.5(COG5):c.1869A>G (p.Ser623=)
|
|
|
NM_006348.5(COG5):c.1869A>T (p.Ser623=)
|
rs200289261
|
|
NM_006348.5(COG5):c.1896G>A (p.Leu632=)
|
|
|
NM_006348.5(COG5):c.18C>T (p.Gly6=)
|
rs776167636
|
|
NM_006348.5(COG5):c.1911A>G (p.Leu637=)
|
|
|
NM_006348.5(COG5):c.1914A>G (p.Gln638=)
|
|
|
NM_006348.5(COG5):c.192T>C (p.Leu64=)
|
|
|
NM_006348.5(COG5):c.2092-15A>G
|
|
|
NM_006348.5(COG5):c.2092-17A>G
|
|
|
NM_006348.5(COG5):c.2098T>C (p.Leu700=)
|
rs757640217
|
|
NM_006348.5(COG5):c.2112A>C (p.Pro704=)
|
|
|
NM_006348.5(COG5):c.2112A>G (p.Pro704=)
|
|
|
NM_006348.5(COG5):c.2115C>T (p.Phe705=)
|
|
|
NM_006348.5(COG5):c.2151G>C (p.Arg717=)
|
|
|
NM_006348.5(COG5):c.2168+8C>A
|
|
|
NM_006348.5(COG5):c.2169-17_2169-16del
|
|
|
NM_006348.5(COG5):c.2175G>A (p.Leu725=)
|
|
|
NM_006348.5(COG5):c.2196T>C (p.His732=)
|
|
|
NM_006348.5(COG5):c.2202C>T (p.Ala734=)
|
|
|
NM_006348.5(COG5):c.2214A>T (p.Ala738=)
|
|
|
NM_006348.5(COG5):c.2241C>T (p.Ile747=)
|
|
|
NM_006348.5(COG5):c.2244T>C (p.Ile748=)
|
|
|
NM_006348.5(COG5):c.2259C>T (p.Phe753=)
|
|
|
NM_006348.5(COG5):c.2274T>G (p.Ala758=)
|
|
|
NM_006348.5(COG5):c.2280G>C (p.Leu760=)
|
|
|
NM_006348.5(COG5):c.2283A>G (p.Lys761=)
|
|
|
NM_006348.5(COG5):c.2295+20C>A
|
|
|
NM_006348.5(COG5):c.2296-17G>A
|
|
|
NM_006348.5(COG5):c.2296-18T>C
|
|
|
NM_006348.5(COG5):c.2296-4G>T
|
|
|
NM_006348.5(COG5):c.2296-7C>T
|
|
|
NM_006348.5(COG5):c.234+18G>C
|
rs2129179413
|
|
NM_006348.5(COG5):c.234+9G>T
|
|
|
NM_006348.5(COG5):c.2346A>T (p.Pro782=)
|
rs2116193767
|
|
NM_006348.5(COG5):c.235-15A>G
|
|
|
NM_006348.5(COG5):c.235-20C>A
|
|
|
NM_006348.5(COG5):c.235-20_235-18del
|
|
|
NM_006348.5(COG5):c.235-9G>T
|
|
|
NM_006348.5(COG5):c.2361G>A (p.Arg787=)
|
|
|
NM_006348.5(COG5):c.2364C>T (p.Leu788=)
|
rs2116193413
|
|
NM_006348.5(COG5):c.2375+12T>C
|
|
|
NM_006348.5(COG5):c.2375+15T>C
|
|
|
NM_006348.5(COG5):c.2375+7C>T
|
|
|
NM_006348.5(COG5):c.2376-20_2376-17dup
|
|
|
NM_006348.5(COG5):c.2412T>C (p.Ser804=)
|
|
|
NM_006348.5(COG5):c.2433A>T (p.Ala811=)
|
rs775853693
|
|
NM_006348.5(COG5):c.2458C>T (p.Leu820=)
|
|
|
NM_006348.5(COG5):c.2481T>A (p.Ala827=)
|
|
|
NM_006348.5(COG5):c.2481T>C (p.Ala827=)
|
rs563267149
|
|
NM_006348.5(COG5):c.24C>A (p.Val8=)
|
|
|
NM_006348.5(COG5):c.24C>G (p.Val8=)
|
|
|
NM_006348.5(COG5):c.24C>T (p.Val8=)
|
|
|
NM_006348.5(COG5):c.270A>G (p.Ala90=)
|
|
|
NM_006348.5(COG5):c.285G>A (p.Ser95=)
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rs746581392
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NM_006348.5(COG5):c.292+10T>C
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NM_006348.5(COG5):c.293-11T>C
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NM_006348.5(COG5):c.293-12_293-11del
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NM_006348.5(COG5):c.30A>C (p.Val10=)
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NM_006348.5(COG5):c.30A>G (p.Val10=)
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NM_006348.5(COG5):c.315G>A (p.Thr105=)
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NM_006348.5(COG5):c.347+8T>A
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rs1802611356
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NM_006348.5(COG5):c.348-19dup
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NM_006348.5(COG5):c.348-9_348-8del
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NM_006348.5(COG5):c.372A>G (p.Pro124=)
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NM_006348.5(COG5):c.387T>C (p.Val129=)
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NM_006348.5(COG5):c.396T>C (p.Thr132=)
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NM_006348.5(COG5):c.39C>T (p.Leu13=)
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NM_006348.5(COG5):c.411A>G (p.Arg137=)
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rs747083048
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NM_006348.5(COG5):c.417+11A>T
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NM_006348.5(COG5):c.417+15T>C
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NM_006348.5(COG5):c.417+8C>T
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NM_006348.5(COG5):c.418-17T>C
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NM_006348.5(COG5):c.418-4A>G
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NM_006348.5(COG5):c.42A>T (p.Gly14=)
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NM_006348.5(COG5):c.513A>G (p.Lys171=)
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rs1178585946
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NM_006348.5(COG5):c.519T>C (p.Ala173=)
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NM_006348.5(COG5):c.51C>T (p.Gly17=)
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NM_006348.5(COG5):c.534A>G (p.Glu178=)
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rs765689232
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NM_006348.5(COG5):c.539-18T>C
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NM_006348.5(COG5):c.585A>G (p.Glu195=)
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NM_006348.5(COG5):c.592C>T (p.Leu198=)
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NM_006348.5(COG5):c.594A>C (p.Leu198=)
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NM_006348.5(COG5):c.612C>T (p.Ala204=)
|
rs1792383808
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NM_006348.5(COG5):c.660G>A (p.Leu220=)
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NM_006348.5(COG5):c.666T>C (p.Thr222=)
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NM_006348.5(COG5):c.669+9A>C
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rs774414370
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NM_006348.5(COG5):c.669+9A>T
|
rs774414370
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NM_006348.5(COG5):c.670-19C>T
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NM_006348.5(COG5):c.670-25CCACC[4]
|
rs1814298466
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NM_006348.5(COG5):c.670-9T>G
|
rs565990382
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NM_006348.5(COG5):c.672T>C (p.Asn224=)
|
rs2129050171
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NM_006348.5(COG5):c.747G>T (p.Val249=)
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NM_006348.5(COG5):c.762T>A (p.Ala254=)
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NM_006348.5(COG5):c.780C>A (p.Ile260=)
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NM_006348.5(COG5):c.780C>T (p.Ile260=)
|
rs764388205
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NM_006348.5(COG5):c.835+12G>A
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NM_006348.5(COG5):c.835+8T>C
|
rs2129050082
|
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NM_006348.5(COG5):c.837G>C (p.Gly279=)
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NM_006348.5(COG5):c.846A>G (p.Gly282=)
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NM_006348.5(COG5):c.852T>C (p.Ser284=)
|
rs2129046289
|
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NM_006348.5(COG5):c.906T>C (p.Asn302=)
|
|
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NM_006348.5(COG5):c.924T>C (p.Asp308=)
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NM_006348.5(COG5):c.94+8G>A
|
|
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NM_006348.5(COG5):c.948+12A>T
|
rs763696416
|
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NM_006348.5(COG5):c.95-12T>G
|
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NM_006348.5(COG5):c.95-17T>A
|
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NM_006348.5(COG5):c.95-5T>A
|
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NM_006348.5(COG5):c.981G>A (p.Lys327=)
|
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NM_006348.5(COG5):c.99T>C (p.Cys33=)
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NM_181581.3(DUS4L):c.-342C>T
|
rs893438249
|
|
NM_181581.3(DUS4L):c.-348C>T
|
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