NM_153603.4(COG7):c.*187A>G
|
rs250588
|
0.31336
|
NM_153603.4(COG7):c.*47C>T
|
rs250587
|
0.21141
|
NM_153603.4(COG7):c.2103T>C (p.Pro701=)
|
rs8057712
|
0.09257
|
NM_153603.4(COG7):c.1814C>T (p.Thr605Met)
|
rs16940094
|
0.07374
|
NM_153603.4(COG7):c.*9C>A
|
rs139833665
|
0.00885
|
NM_153603.4(COG7):c.534G>A (p.Glu178=)
|
rs80204521
|
0.00330
|
NM_153603.4(COG7):c.1178A>G (p.His393Arg)
|
rs116331296
|
0.00233
|
NM_153603.4(COG7):c.*30C>G
|
rs200982091
|
0.00171
|
NM_153603.4(COG7):c.1971C>T (p.His657=)
|
rs114458562
|
0.00156
|
NM_153603.4(COG7):c.2283C>T (p.Thr761=)
|
rs144814374
|
0.00150
|
NM_153603.4(COG7):c.810+6del
|
rs150104389
|
0.00139
|
NM_153603.4(COG7):c.1137+11A>C
|
rs74012174
|
0.00124
|
NM_153603.4(COG7):c.567T>C (p.Ser189=)
|
rs115543944
|
0.00101
|
NM_153603.4(COG7):c.850A>T (p.Ile284Phe)
|
rs115605801
|
0.00094
|
NM_153603.4(COG7):c.900C>T (p.Asn300=)
|
rs112611398
|
0.00091
|
NM_153603.4(COG7):c.1888-17G>A
|
rs112887835
|
0.00088
|
NM_153603.4(COG7):c.1137+8C>T
|
rs75523257
|
0.00079
|
NM_153603.4(COG7):c.1113C>T (p.Leu371=)
|
rs114661874
|
0.00078
|
NM_153603.4(COG7):c.319-12C>T
|
rs201965984
|
0.00077
|
NM_153603.4(COG7):c.1718G>A (p.Arg573Gln)
|
rs143639857
|
0.00076
|
NM_153603.4(COG7):c.1455C>T (p.Phe485=)
|
rs116153163
|
0.00068
|
NM_153603.4(COG7):c.75C>G (p.Ser25=)
|
rs149481813
|
0.00068
|
NM_153603.4(COG7):c.2052G>A (p.Ser684=)
|
rs142744907
|
0.00060
|
NM_153603.4(COG7):c.406G>A (p.Ala136Thr)
|
rs149163316
|
0.00059
|
NM_153603.4(COG7):c.319-18C>A
|
rs370957274
|
0.00046
|
NM_153603.4(COG7):c.523G>T (p.Val175Leu)
|
rs116645835
|
0.00042
|
NM_153603.4(COG7):c.170-4A>G
|
rs544015151
|
0.00032
|
NM_153603.4(COG7):c.1852G>A (p.Ala618Thr)
|
rs145412851
|
0.00031
|
NM_153603.4(COG7):c.405C>T (p.Ser135=)
|
rs143571247
|
0.00030
|
NM_153603.4(COG7):c.360T>G (p.Leu120=)
|
rs563111337
|
0.00027
|
NM_153603.4(COG7):c.2192G>A (p.Arg731His)
|
rs149289920
|
0.00024
|
NM_153603.4(COG7):c.435+2T>C
|
rs201446992
|
0.00023
|
NM_153603.4(COG7):c.86C>T (p.Ala29Val)
|
rs146918812
|
0.00022
|
NM_153603.4(COG7):c.1410-17C>A
|
rs373102854
|
0.00019
|
NM_153603.4(COG7):c.811-14C>G
|
rs545654100
|
0.00016
|
NM_153603.4(COG7):c.835G>A (p.Val279Ile)
|
rs367796897
|
0.00015
|
NM_153603.4(COG7):c.1499A>G (p.Tyr500Cys)
|
rs146603761
|
0.00014
|
NM_153603.4(COG7):c.170-20T>C
|
rs760817103
|
0.00014
|
NM_153603.4(COG7):c.1972G>A (p.Ala658Thr)
|
rs115073082
|
0.00014
|
NM_153603.4(COG7):c.904G>A (p.Val302Met)
|
rs116314856
|
0.00014
|
NM_153603.4(COG7):c.2013G>A (p.Leu671=)
|
rs370447404
|
0.00012
|
NM_153603.4(COG7):c.2087C>T (p.Ala696Val)
|
rs376170815
|
0.00012
|
NM_153603.4(COG7):c.1205C>T (p.Ala402Val)
|
rs149533590
|
0.00011
|
NM_153603.4(COG7):c.525G>A (p.Val175=)
|
rs144180834
|
0.00011
|
NM_153603.4(COG7):c.954C>T (p.Tyr318=)
|
rs752563691
|
0.00011
|
NM_153603.4(COG7):c.*193G>A
|
rs191591988
|
0.00010
|
NM_153603.4(COG7):c.136C>T (p.Leu46=)
|
rs141138076
|
0.00010
|
NM_153603.4(COG7):c.1817C>A (p.Ala606Asp)
|
rs768615420
|
0.00010
|
NM_153603.4(COG7):c.754G>A (p.Gly252Arg)
|
rs766287686
|
0.00010
|
NM_153603.4(COG7):c.1822A>G (p.Ile608Val)
|
rs115813844
|
0.00009
|
NM_153603.4(COG7):c.972C>T (p.Phe324=)
|
rs747262700
|
0.00009
|
NM_153603.4(COG7):c.1206G>A (p.Ala402=)
|
rs777152433
|
0.00008
|
NM_153603.4(COG7):c.1228G>A (p.Val410Ile)
|
rs199799595
|
0.00008
|
NM_153603.4(COG7):c.1973C>G (p.Ala658Gly)
|
rs770639224
|
0.00008
|
NM_153603.4(COG7):c.2213C>T (p.Thr738Met)
|
rs376359015
|
0.00008
|
NM_153603.4(COG7):c.1264T>C (p.Leu422=)
|
rs765230344
|
0.00007
|
NM_153603.4(COG7):c.2064C>T (p.Ala688=)
|
rs375870009
|
0.00007
|
NM_153603.4(COG7):c.241T>G (p.Ser81Ala)
|
rs778408190
|
0.00007
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_153603.4(COG7):c.1476-3C>T
|
rs551490261
|
0.00006
|
NM_153603.4(COG7):c.1851C>T (p.Pro617=)
|
rs748835759
|
0.00006
|
NM_153603.4(COG7):c.1948T>C (p.Ser650Pro)
|
rs761925269
|
0.00006
|
NM_153603.4(COG7):c.2297G>A (p.Arg766Gln)
|
rs368136642
|
0.00006
|
NM_153603.4(COG7):c.581C>T (p.Ala194Val)
|
rs557121999
|
0.00006
|
NM_153603.4(COG7):c.921C>T (p.Pro307=)
|
rs115610955
|
0.00006
|
NM_153603.4(COG7):c.955G>A (p.Asp319Asn)
|
rs767025710
|
0.00006
|
NM_153603.4(COG7):c.973G>A (p.Ala325Thr)
|
rs116804305
|
0.00006
|
NM_153603.4(COG7):c.111A>G (p.Ala37=)
|
rs776897797
|
0.00005
|
NM_153603.4(COG7):c.1475+4G>A
|
rs372160869
|
0.00005
|
NM_153603.4(COG7):c.1888-18C>T
|
rs202123984
|
0.00005
|
NM_153603.4(COG7):c.1137+9G>A
|
rs746762111
|
0.00004
|
NM_153603.4(COG7):c.1293-6C>T
|
rs770617869
|
0.00004
|
NM_153603.4(COG7):c.1388C>T (p.Thr463Met)
|
rs764153683
|
0.00004
|
NM_153603.4(COG7):c.1529T>C (p.Leu510Pro)
|
rs202221877
|
0.00004
|
NM_153603.4(COG7):c.1577A>G (p.Lys526Arg)
|
rs376579040
|
0.00004
|
NM_153603.4(COG7):c.1834C>T (p.Leu612Phe)
|
rs756688485
|
0.00004
|
NM_153603.4(COG7):c.386A>G (p.Asp129Gly)
|
rs150979217
|
0.00004
|
NM_153603.4(COG7):c.687+16C>T
|
rs373095194
|
0.00004
|
NM_153603.4(COG7):c.687+7A>C
|
rs199964250
|
0.00004
|
NM_153603.4(COG7):c.69C>T (p.Ala23=)
|
rs369785066
|
0.00004
|
NM_153603.4(COG7):c.963C>T (p.Thr321=)
|
rs762510375
|
0.00004
|
NM_153603.4(COG7):c.1167G>A (p.Gln389=)
|
rs201313774
|
0.00003
|
NM_153603.4(COG7):c.119T>A (p.Leu40Gln)
|
rs775575683
|
0.00003
|
NM_153603.4(COG7):c.1292+17G>A
|
rs770550607
|
0.00003
|
NM_153603.4(COG7):c.1409+8G>A
|
rs776496345
|
0.00003
|
NM_153603.4(COG7):c.1410-6G>C
|
rs369925503
|
0.00003
|
NM_153603.4(COG7):c.1629T>C (p.Tyr543=)
|
rs760342154
|
0.00003
|
NM_153603.4(COG7):c.1803C>T (p.Asp601=)
|
rs1039295104
|
0.00003
|
NM_153603.4(COG7):c.1804-13G>A
|
rs759680428
|
0.00003
|
NM_153603.4(COG7):c.1914C>T (p.Pro638=)
|
rs111414595
|
0.00003
|
NM_153603.4(COG7):c.2068A>G (p.Met690Val)
|
rs141629916
|
0.00003
|
NM_153603.4(COG7):c.2266C>T (p.Arg756Cys)
|
rs199984825
|
0.00003
|
NM_153603.4(COG7):c.2296C>T (p.Arg766Trp)
|
rs112011340
|
0.00003
|
NM_153603.4(COG7):c.828C>T (p.His276=)
|
rs745431635
|
0.00003
|
NM_153603.4(COG7):c.838A>G (p.Met280Val)
|
rs778121380
|
0.00003
|
NM_153603.4(COG7):c.1405A>G (p.Ile469Val)
|
rs751036976
|
0.00002
|
NM_153603.4(COG7):c.1445G>A (p.Cys482Tyr)
|
rs376426601
|
0.00002
|
NM_153603.4(COG7):c.1482G>T (p.Leu494Phe)
|
rs376358218
|
0.00002
|
NM_153603.4(COG7):c.173C>G (p.Thr58Arg)
|
rs866875812
|
0.00002
|
NM_153603.4(COG7):c.2267G>A (p.Arg756His)
|
rs765513149
|
0.00002
|
NM_153603.4(COG7):c.319-11G>A
|
rs374601516
|
0.00002
|
NM_153603.4(COG7):c.605-17C>T
|
rs376920945
|
0.00002
|
NM_153603.4(COG7):c.753C>T (p.Thr251=)
|
rs775575688
|
0.00002
|
NM_153603.4(COG7):c.829G>A (p.Glu277Lys)
|
rs757810496
|
0.00002
|
NM_153603.4(COG7):c.906G>A (p.Val302=)
|
rs781240758
|
0.00002
|
NM_153603.4(COG7):c.1010-19C>T
|
rs748110576
|
0.00001
|
NM_153603.4(COG7):c.1035G>A (p.Thr345=)
|
rs751396156
|
0.00001
|
NM_153603.4(COG7):c.1053G>A (p.Val351=)
|
rs765976652
|
0.00001
|
NM_153603.4(COG7):c.1093A>G (p.Met365Val)
|
rs1186888889
|
0.00001
|
NM_153603.4(COG7):c.109G>A (p.Ala37Thr)
|
rs1327432623
|
0.00001
|
NM_153603.4(COG7):c.1182C>T (p.Ser394=)
|
rs778585982
|
0.00001
|
NM_153603.4(COG7):c.1183G>A (p.Val395Met)
|
rs369307885
|
0.00001
|
NM_153603.4(COG7):c.1475+11G>A
|
rs777930529
|
0.00001
|
NM_153603.4(COG7):c.1532C>G (p.Ala511Gly)
|
rs766815684
|
0.00001
|
NM_153603.4(COG7):c.1657C>A (p.Leu553Ile)
|
rs1013455293
|
0.00001
|
NM_153603.4(COG7):c.1703G>A (p.Arg568Gln)
|
rs961127814
|
0.00001
|
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp)
|
rs548129734
|
0.00001
|
NM_153603.4(COG7):c.1793C>T (p.Ser598Leu)
|
rs754431741
|
0.00001
|
NM_153603.4(COG7):c.1825G>A (p.Gly609Arg)
|
rs369854088
|
0.00001
|
NM_153603.4(COG7):c.1970A>G (p.His657Arg)
|
rs767518060
|
0.00001
|
NM_153603.4(COG7):c.1986A>G (p.Pro662=)
|
rs1275768025
|
0.00001
|
NM_153603.4(COG7):c.2016C>T (p.Pro672=)
|
rs769602942
|
0.00001
|
NM_153603.4(COG7):c.2146+4G>C
|
rs750266735
|
0.00001
|
NM_153603.4(COG7):c.2146+8C>T
|
rs764926770
|
0.00001
|
NM_153603.4(COG7):c.2147-10G>A
|
rs368816921
|
0.00001
|
NM_153603.4(COG7):c.2187G>A (p.Pro729=)
|
rs759094324
|
0.00001
|
NM_153603.4(COG7):c.2291C>T (p.Thr764Ile)
|
rs1299896596
|
0.00001
|
NM_153603.4(COG7):c.2292C>G (p.Thr764=)
|
rs114918337
|
0.00001
|
NM_153603.4(COG7):c.2302G>A (p.Val768Met)
|
rs754629845
|
0.00001
|
NM_153603.4(COG7):c.319-14C>T
|
rs756656603
|
0.00001
|
NM_153603.4(COG7):c.371C>A (p.Ser124Tyr)
|
rs1270268038
|
0.00001
|
NM_153603.4(COG7):c.409G>A (p.Asp137Asn)
|
rs758676102
|
0.00001
|
NM_153603.4(COG7):c.503C>G (p.Pro168Arg)
|
rs1385977854
|
0.00001
|
NM_153603.4(COG7):c.647G>A (p.Arg216Gln)
|
rs766859040
|
0.00001
|
NM_153603.4(COG7):c.687+11G>A
|
rs749081598
|
0.00001
|
NM_153603.4(COG7):c.687+14C>T
|
rs139853094
|
0.00001
|
NM_153603.4(COG7):c.721C>A (p.Gln241Lys)
|
rs758862580
|
0.00001
|
NM_153603.4(COG7):c.768C>T (p.Ala256=)
|
rs183038281
|
0.00001
|
NM_153603.4(COG7):c.994C>G (p.Leu332Val)
|
rs1355304299
|
0.00001
|
NC_000016.9:g.(?_23193865)_(23652612_?)del
|
|
|
NM_153603.4(COG7):c.-141C>G
|
rs1964294802
|
|
NM_153603.4(COG7):c.1000C>T (p.Pro334Ser)
|
|
|
NM_153603.4(COG7):c.1005C>T (p.His335=)
|
rs532636981
|
|
NM_153603.4(COG7):c.1009+14C>T
|
|
|
NM_153603.4(COG7):c.1009+15C>T
|
|
|
NM_153603.4(COG7):c.1009C>T (p.His337Tyr)
|
|
|
NM_153603.4(COG7):c.1010-18A>G
|
|
|
NM_153603.4(COG7):c.103G>A (p.Gly35Ser)
|
rs2142101336
|
|
NM_153603.4(COG7):c.1046A>G (p.Asp349Gly)
|
rs1036433681
|
|
NM_153603.4(COG7):c.1056T>G (p.Tyr352Ter)
|
|
|
NM_153603.4(COG7):c.1058A>G (p.Asp353Gly)
|
|
|
NM_153603.4(COG7):c.1062A>G (p.Pro354=)
|
|
|
NM_153603.4(COG7):c.1064A>T (p.Tyr355Phe)
|
|
|
NM_153603.4(COG7):c.1068A>G (p.Lys356=)
|
|
|
NM_153603.4(COG7):c.1071C>A (p.Pro357=)
|
|
|
NM_153603.4(COG7):c.1089C>T (p.Gly363=)
|
rs539939894
|
|
NM_153603.4(COG7):c.108C>A (p.His36Gln)
|
|
|
NM_153603.4(COG7):c.1090G>A (p.Asp364Asn)
|
rs764545607
|
|
NM_153603.4(COG7):c.110C>T (p.Ala37Val)
|
|
|
NM_153603.4(COG7):c.1137+11A>G
|
rs74012174
|
|
NM_153603.4(COG7):c.1138-15G>A
|
|
|
NM_153603.4(COG7):c.1138-17C>T
|
|
|
NM_153603.4(COG7):c.1138-4C>A
|
|
|
NM_153603.4(COG7):c.1138-8C>T
|
|
|
NM_153603.4(COG7):c.1149A>G (p.Glu383=)
|
rs2142075318
|
|
NM_153603.4(COG7):c.1150G>T (p.Val384Leu)
|
rs966821454
|
|
NM_153603.4(COG7):c.1177C>T (p.His393Tyr)
|
|
|
NM_153603.4(COG7):c.117C>T (p.Thr39=)
|
|
|
NM_153603.4(COG7):c.11C>G (p.Ser4Cys)
|
|
|
NM_153603.4(COG7):c.1200T>A (p.Gly400=)
|
|
|
NM_153603.4(COG7):c.120G>A (p.Leu40=)
|
|
|
NM_153603.4(COG7):c.1215C>T (p.Ala405=)
|
|
|
NM_153603.4(COG7):c.1227C>T (p.Cys409=)
|
|
|
NM_153603.4(COG7):c.123G>A (p.Val41=)
|
|
|
NM_153603.4(COG7):c.1241A>G (p.Asn414Ser)
|
|
|
NM_153603.4(COG7):c.1255dup (p.Cys419fs)
|
|
|
NM_153603.4(COG7):c.1257C>T (p.Cys419=)
|
|
|
NM_153603.4(COG7):c.1259G>C (p.Gly420Ala)
|
|
|
NM_153603.4(COG7):c.1259G>T (p.Gly420Val)
|
rs773279166
|
|
NM_153603.4(COG7):c.1260C>T (p.Gly420=)
|
|
|
NM_153603.4(COG7):c.1261C>G (p.Leu421Val)
|
rs1596929657
|
|
NM_153603.4(COG7):c.1281C>T (p.Ser427=)
|
|
|
NM_153603.4(COG7):c.1283T>C (p.Leu428Pro)
|
|
|
NM_153603.4(COG7):c.1292+12G>A
|
|
|
NM_153603.4(COG7):c.1293-4G>A
|
|
|
NM_153603.4(COG7):c.1293-5G>A
|
|
|
NM_153603.4(COG7):c.1293G>A (p.Lys431=)
|
rs554871778
|
|
NM_153603.4(COG7):c.1293G>T (p.Lys431Asn)
|
|
|
NM_153603.4(COG7):c.1305T>C (p.Asp435=)
|
rs1019861391
|
|
NM_153603.4(COG7):c.1307T>G (p.Phe436Cys)
|
|
|
NM_153603.4(COG7):c.1311C>T (p.Thr437=)
|
|
|
NM_153603.4(COG7):c.1330C>T (p.Arg444Ter)
|
|
|
NM_153603.4(COG7):c.1365C>T (p.Asn455=)
|
|
|
NM_153603.4(COG7):c.1375del (p.Gln459fs)
|
|
|
NM_153603.4(COG7):c.1383T>C (p.Asp461=)
|
|
|
NM_153603.4(COG7):c.1389G>A (p.Thr463=)
|
|
|
NM_153603.4(COG7):c.1401C>G (p.Asn467Lys)
|
|
|
NM_153603.4(COG7):c.1409+15G>A
|
|
|
NM_153603.4(COG7):c.1409+6C>G
|
|
|
NM_153603.4(COG7):c.1409+7C>G
|
rs373366651
|
|
NM_153603.4(COG7):c.1409+7C>T
|
rs373366651
|
|
NM_153603.4(COG7):c.1410-17dup
|
|
|
NM_153603.4(COG7):c.1410-2A>T
|
|
|
NM_153603.4(COG7):c.1422C>T (p.Thr474=)
|
|
|
NM_153603.4(COG7):c.1426G>A (p.Gly476Arg)
|
|
|
NM_153603.4(COG7):c.1438C>T (p.Arg480Trp)
|
|
|
NM_153603.4(COG7):c.1448G>A (p.Gly483Glu)
|
|
|
NM_153603.4(COG7):c.1456G>A (p.Glu486Lys)
|
|
|
NM_153603.4(COG7):c.1472A>T (p.Asn491Ile)
|
|
|
NM_153603.4(COG7):c.1474A>T (p.Arg492Trp)
|
rs2142070391
|
|
NM_153603.4(COG7):c.1476-16A>G
|
|
|
NM_153603.4(COG7):c.1476-1G>T
|
rs1555493029
|
|
NM_153603.4(COG7):c.1476-7A>G
|
|
|
NM_153603.4(COG7):c.1482G>A (p.Leu494=)
|
|
|
NM_153603.4(COG7):c.1494G>A (p.Gly498=)
|
|
|
NM_153603.4(COG7):c.1498dup (p.Tyr500fs)
|
|
|
NM_153603.4(COG7):c.1503A>G (p.Leu501=)
|
rs200335241
|
|
NM_153603.4(COG7):c.1511C>G (p.Ser504Cys)
|
rs1031815684
|
|
NM_153603.4(COG7):c.1515C>T (p.Cys505=)
|
|
|
NM_153603.4(COG7):c.1522C>T (p.Arg508Trp)
|
|
|
NM_153603.4(COG7):c.1524G>A (p.Arg508=)
|
|
|
NM_153603.4(COG7):c.1527C>T (p.Ser509=)
|
rs759004348
|
|
NM_153603.4(COG7):c.1528C>A (p.Leu510Met)
|
|
|
NM_153603.4(COG7):c.1560C>T (p.Asp520=)
|
|
|
NM_153603.4(COG7):c.1563G>C (p.Lys521Asn)
|
|
|
NM_153603.4(COG7):c.1575C>T (p.Ala525=)
|
|
|
NM_153603.4(COG7):c.1593A>G (p.Glu531=)
|
rs1555493003
|
|
NM_153603.4(COG7):c.1623T>A (p.Ala541=)
|
|
|
NM_153603.4(COG7):c.162C>A (p.Ala54=)
|
|
|
NM_153603.4(COG7):c.1635T>C (p.Ser545=)
|
|
|
NM_153603.4(COG7):c.1640T>A (p.Met547Lys)
|
|
|
NM_153603.4(COG7):c.1645A>G (p.Ile549Val)
|
|
|
NM_153603.4(COG7):c.1646T>C (p.Ile549Thr)
|
|
|
NM_153603.4(COG7):c.1662+13del
|
|
|
NM_153603.4(COG7):c.1662+7G>A
|
|
|
NM_153603.4(COG7):c.1662+9C>T
|
|
|
NM_153603.4(COG7):c.1663-15A>G
|
|
|
NM_153603.4(COG7):c.1674A>T (p.Ser558=)
|
|
|
NM_153603.4(COG7):c.167A>G (p.Glu56Gly)
|
rs977110347
|
|
NM_153603.4(COG7):c.169+18C>G
|
|
|
NM_153603.4(COG7):c.169+18del
|
rs140548275
|
|
NM_153603.4(COG7):c.169+20G>A
|
|
|
NM_153603.4(COG7):c.169+4A>C
|
rs1555497568
|
|
NM_153603.4(COG7):c.169+8G>T
|
|
|
NM_153603.4(COG7):c.1691T>G (p.Leu564Arg)
|
|
|
NM_153603.4(COG7):c.1699C>T (p.Pro567Ser)
|
|
|
NM_153603.4(COG7):c.170-10_170-9del
|
rs71379679
|
|
NM_153603.4(COG7):c.170-7A>G
|
rs1555496968
|
|
NM_153603.4(COG7):c.170-9del
|
rs71379679
|
|
NM_153603.4(COG7):c.1709C>T (p.Ala570Val)
|
|
|
NM_153603.4(COG7):c.1710G>A (p.Ala570=)
|
|
|
NM_153603.4(COG7):c.1746T>C (p.Ala582=)
|
|
|
NM_153603.4(COG7):c.1755C>A (p.Ser585=)
|
|
|
NM_153603.4(COG7):c.1765C>T (p.Arg589Cys)
|
|
|
NM_153603.4(COG7):c.1776A>G (p.Gln592=)
|
|
|
NM_153603.4(COG7):c.177T>G (p.Ser59Arg)
|
|
|
NM_153603.4(COG7):c.1784T>A (p.Leu595Ter)
|
|
|
NM_153603.4(COG7):c.1794G>A (p.Ser598=)
|
|
|
NM_153603.4(COG7):c.1803+15G>A
|
|
|
NM_153603.4(COG7):c.1803+16A>G
|
|
|
NM_153603.4(COG7):c.1804-14C>A
|
rs768020092
|
|
NM_153603.4(COG7):c.1804-14C>T
|
|
|
NM_153603.4(COG7):c.1808G>A (p.Trp603Ter)
|
|
|
NM_153603.4(COG7):c.1815G>A (p.Thr605=)
|
|
|
NM_153603.4(COG7):c.1820G>C (p.Gly607Ala)
|
rs1444115658
|
|
NM_153603.4(COG7):c.1824C>T (p.Ile608=)
|
|
|
NM_153603.4(COG7):c.1826G>A (p.Gly609Glu)
|
|
|
NM_153603.4(COG7):c.1872C>T (p.Leu624=)
|
|
|
NM_153603.4(COG7):c.1873G>A (p.Glu625Lys)
|
|
|
NM_153603.4(COG7):c.1873G>C (p.Glu625Gln)
|
rs150027511
|
|
NM_153603.4(COG7):c.1888-13dup
|
|
|
NM_153603.4(COG7):c.1888-15T>C
|
|
|
NM_153603.4(COG7):c.1890C>A (p.Ile630=)
|
rs199904223
|
|
NM_153603.4(COG7):c.1890C>T (p.Ile630=)
|
|
|
NM_153603.4(COG7):c.189C>T (p.Leu63=)
|
rs1237076520
|
|
NM_153603.4(COG7):c.1914C>G (p.Pro638=)
|
rs111414595
|
|
NM_153603.4(COG7):c.1920T>C (p.Asn640=)
|
|
|
NM_153603.4(COG7):c.1946A>G (p.Asp649Gly)
|
|
|
NM_153603.4(COG7):c.1947C>T (p.Asp649=)
|
rs765301112
|
|
NM_153603.4(COG7):c.1949C>G (p.Ser650Cys)
|
rs1963230461
|
|
NM_153603.4(COG7):c.1965A>G (p.Ala655=)
|
|
|
NM_153603.4(COG7):c.1978A>G (p.Lys660Glu)
|
|
|
NM_153603.4(COG7):c.1981C>T (p.Leu661=)
|
|
|
NM_153603.4(COG7):c.19C>T (p.Leu7=)
|
|
|
NM_153603.4(COG7):c.1A>G (p.Met1Val)
|
rs1051352713
|
|
NM_153603.4(COG7):c.2002+18C>T
|
|
|
NM_153603.4(COG7):c.2002+7G>A
|
|
|
NM_153603.4(COG7):c.2003-13del
|
|
|
NM_153603.4(COG7):c.2003-14_2003-12del
|
|
|
NM_153603.4(COG7):c.2003-20T>C
|
|
|
NM_153603.4(COG7):c.2003-3C>T
|
|
|
NM_153603.4(COG7):c.2003-9T>G
|
|
|
NM_153603.4(COG7):c.2014C>T (p.Pro672Ser)
|
|
|
NM_153603.4(COG7):c.2032G>T (p.Ala678Ser)
|
rs1596904416
|
|
NM_153603.4(COG7):c.2056G>A (p.Ala686Thr)
|
|
|
NM_153603.4(COG7):c.2067A>G (p.Thr689=)
|
|
|
NM_153603.4(COG7):c.2088G>A (p.Ala696=)
|
|
|
NM_153603.4(COG7):c.2094A>G (p.Leu698=)
|
|
|
NM_153603.4(COG7):c.2099T>C (p.Ile700Thr)
|
|
|
NM_153603.4(COG7):c.2106G>C (p.Glu702Asp)
|
|
|
NM_153603.4(COG7):c.210C>A (p.Leu70=)
|
|
|
NM_153603.4(COG7):c.211C>T (p.Arg71Cys)
|
|
|
NM_153603.4(COG7):c.2122G>A (p.Ala708Thr)
|
|
|
NM_153603.4(COG7):c.212G>A (p.Arg71His)
|
|
|
NM_153603.4(COG7):c.2131C>T (p.Leu711=)
|
|
|
NM_153603.4(COG7):c.2146+10del
|
rs748589611
|
|
NM_153603.4(COG7):c.2146+8C>A
|
|
|
NM_153603.4(COG7):c.2146+9C>G
|
|
|
NM_153603.4(COG7):c.2146+9C>T
|
|
|
NM_153603.4(COG7):c.2147-10_2147-9delinsTT
|
|
|
NM_153603.4(COG7):c.2147-11C>T
|
|
|
NM_153603.4(COG7):c.2147-9C>T
|
|
|
NM_153603.4(COG7):c.2153T>C (p.Leu718Pro)
|
|
|
NM_153603.4(COG7):c.2160C>T (p.Asn720=)
|
|
|
NM_153603.4(COG7):c.2161G>A (p.Val721Met)
|
|
|
NM_153603.4(COG7):c.2185C>T (p.Pro729Ser)
|
|
|
NM_153603.4(COG7):c.2195C>T (p.Thr732Ile)
|
|
|
NM_153603.4(COG7):c.21G>A (p.Leu7=)
|
|
|
NM_153603.4(COG7):c.2208C>T (p.Ile736=)
|
rs762124832
|
|
NM_153603.4(COG7):c.2209G>A (p.Val737Met)
|
|
|
NM_153603.4(COG7):c.2217A>G (p.Leu739=)
|
rs778874347
|
|
NM_153603.4(COG7):c.2232T>A (p.Pro744=)
|
rs1963141946
|
|
NM_153603.4(COG7):c.2243G>A (p.Arg748Lys)
|
|
|
NM_153603.4(COG7):c.2269C>T (p.Arg757Cys)
|
|
|
NM_153603.4(COG7):c.2270G>A (p.Arg757His)
|
rs368733148
|
|
NM_153603.4(COG7):c.2281A>G (p.Thr761Ala)
|
rs1963140690
|
|
NM_153603.4(COG7):c.2287G>T (p.Ala763Ser)
|
|
|
NM_153603.4(COG7):c.2293A>G (p.Met765Val)
|
|
|
NM_153603.4(COG7):c.229A>G (p.Lys77Glu)
|
|
|
NM_153603.4(COG7):c.2304G>A (p.Val768=)
|
|
|
NM_153603.4(COG7):c.2304G>C (p.Val768=)
|
|
|
NM_153603.4(COG7):c.2T>C (p.Met1Thr)
|
rs1555497604
|
|
NM_153603.4(COG7):c.300C>T (p.Asp100=)
|
|
|
NM_153603.4(COG7):c.318+1G>A
|
rs945537370
|
|
NM_153603.4(COG7):c.318+20C>A
|
|
|
NM_153603.4(COG7):c.318+5T>C
|
|
|
NM_153603.4(COG7):c.319-19C>T
|
|
|
NM_153603.4(COG7):c.319G>A (p.Val107Met)
|
rs550355383
|
|
NM_153603.4(COG7):c.323dup (p.Leu108fs)
|
rs797044712
|
|
NM_153603.4(COG7):c.336C>T (p.Asp112=)
|
|
|
NM_153603.4(COG7):c.366C>G (p.Ala122=)
|
|
|
NM_153603.4(COG7):c.366C>T (p.Ala122=)
|
rs74012178
|
|
NM_153603.4(COG7):c.373C>G (p.Leu125Val)
|
|
|
NM_153603.4(COG7):c.37G>T (p.Val13Leu)
|
|
|
NM_153603.4(COG7):c.399G>A (p.Thr133=)
|
|
|
NM_153603.4(COG7):c.408C>T (p.Ala136=)
|
|
|
NM_153603.4(COG7):c.412A>G (p.Ile138Val)
|
|
|
NM_153603.4(COG7):c.422C>T (p.Thr141Ile)
|
|
|
NM_153603.4(COG7):c.435+16A>G
|
|
|
NM_153603.4(COG7):c.435+20G>T
|
|
|
NM_153603.4(COG7):c.436-11G>A
|
|
|
NM_153603.4(COG7):c.436-12G>A
|
rs2142094162
|
|
NM_153603.4(COG7):c.436-13T>G
|
|
|
NM_153603.4(COG7):c.436-4C>T
|
rs1964120151
|
|
NM_153603.4(COG7):c.436-9C>G
|
|
|
NM_153603.4(COG7):c.438C>G (p.Asp146Glu)
|
|
|
NM_153603.4(COG7):c.443C>G (p.Ala148Gly)
|
|
|
NM_153603.4(COG7):c.455C>T (p.Ala152Val)
|
|
|
NM_153603.4(COG7):c.468T>C (p.Gly156=)
|
|
|
NM_153603.4(COG7):c.538C>T (p.Leu180=)
|
|
|
NM_153603.4(COG7):c.564C>T (p.Ala188=)
|
|
|
NM_153603.4(COG7):c.570A>G (p.Pro190=)
|
|
|
NM_153603.4(COG7):c.577G>A (p.Val193Ile)
|
rs1596955037
|
|
NM_153603.4(COG7):c.601G>T (p.Val201Leu)
|
|
|
NM_153603.4(COG7):c.604+13T>G
|
|
|
NM_153603.4(COG7):c.604+20C>T
|
|
|
NM_153603.4(COG7):c.604+3G>A
|
|
|
NM_153603.4(COG7):c.605-13G>T
|
rs1415853002
|
|
NM_153603.4(COG7):c.605A>G (p.Asp202Gly)
|
|
|
NM_153603.4(COG7):c.614A>C (p.Lys205Thr)
|
|
|
NM_153603.4(COG7):c.628G>A (p.Val210Met)
|
rs202038832
|
|
NM_153603.4(COG7):c.630G>A (p.Val210=)
|
|
|
NM_153603.4(COG7):c.642T>C (p.Ile214=)
|
rs1362703585
|
|
NM_153603.4(COG7):c.646C>T (p.Arg216Trp)
|
rs751918725
|
|
NM_153603.4(COG7):c.664G>A (p.Ala222Thr)
|
|
|
NM_153603.4(COG7):c.668A>G (p.Tyr223Cys)
|
rs377542270
|
|
NM_153603.4(COG7):c.668A>T (p.Tyr223Phe)
|
|
|
NM_153603.4(COG7):c.66G>A (p.Arg22=)
|
|
|
NM_153603.4(COG7):c.677A>G (p.Lys226Arg)
|
|
|
NM_153603.4(COG7):c.684C>T (p.His228=)
|
|
|
NM_153603.4(COG7):c.687+17G>A
|
|
|
NM_153603.4(COG7):c.687+18A>T
|
|
|
NM_153603.4(COG7):c.687+1G>A
|
|
|
NM_153603.4(COG7):c.688-10G>A
|
|
|
NM_153603.4(COG7):c.688-18T>G
|
|
|
NM_153603.4(COG7):c.688-6C>T
|
rs2142087500
|
|
NM_153603.4(COG7):c.698del (p.Leu232_Leu233insTer)
|
|
|
NM_153603.4(COG7):c.734C>T (p.Ser245Phe)
|
|
|
NM_153603.4(COG7):c.743G>A (p.Arg248Gln)
|
|
|
NM_153603.4(COG7):c.748C>T (p.Leu250Phe)
|
|
|
NM_153603.4(COG7):c.74C>T (p.Ser25Phe)
|
|
|
NM_153603.4(COG7):c.758T>A (p.Leu253His)
|
rs1413062130
|
|
NM_153603.4(COG7):c.75C>T (p.Ser25=)
|
|
|
NM_153603.4(COG7):c.792A>G (p.Gln264=)
|
|
|
NM_153603.4(COG7):c.795C>G (p.Ile265Met)
|
|
|
NM_153603.4(COG7):c.802G>T (p.Ala268Ser)
|
|
|
NM_153603.4(COG7):c.810+16del
|
|
|
NM_153603.4(COG7):c.810+17G>A
|
|
|
NM_153603.4(COG7):c.810+20del
|
|
|
NM_153603.4(COG7):c.811-14C>T
|
|
|
NM_153603.4(COG7):c.811-16C>T
|
|
|
NM_153603.4(COG7):c.811-7A>G
|
|
|
NM_153603.4(COG7):c.818A>G (p.Gln273Arg)
|
rs746662903
|
|
NM_153603.4(COG7):c.81G>A (p.Glu27=)
|
|
|
NM_153603.4(COG7):c.822G>A (p.Lys274=)
|
|
|
NM_153603.4(COG7):c.844C>T (p.Leu282=)
|
|
|
NM_153603.4(COG7):c.845T>C (p.Leu282Pro)
|
|
|
NM_153603.4(COG7):c.848T>G (p.Leu283Arg)
|
|
|
NM_153603.4(COG7):c.879G>A (p.Ser293=)
|
|
|
NM_153603.4(COG7):c.882G>A (p.Leu294=)
|
|
|
NM_153603.4(COG7):c.901G>A (p.Gly301Ser)
|
|
|
NM_153603.4(COG7):c.904G>C (p.Val302Leu)
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rs116314856
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NM_153603.4(COG7):c.909G>A (p.Glu303=)
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NM_153603.4(COG7):c.90C>T (p.Ser30=)
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NM_153603.4(COG7):c.922G>A (p.Glu308Lys)
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NM_153603.4(COG7):c.938G>A (p.Arg313Lys)
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NM_153603.4(COG7):c.951C>A (p.Phe317Leu)
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rs199739443
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NM_153603.4(COG7):c.957C>T (p.Asp319=)
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NM_153603.4(COG7):c.964G>A (p.Ala322Thr)
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rs201584244
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NM_153603.4(COG7):c.966C>T (p.Ala322=)
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NM_153603.4(COG7):c.972C>G (p.Phe324Leu)
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rs747262700
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NM_153603.4(COG7):c.979G>A (p.Gly327Ser)
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NM_153603.4(COG7):c.984G>A (p.Leu328=)
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NM_153603.4(COG7):c.995T>G (p.Leu332Arg)
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rs756142167
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NM_153603.4(COG7):c.999C>T (p.Leu333=)
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