NM_003611.3(OFD1):c.1129+16A>G
|
rs3815049
|
0.28069
|
NM_003611.3(OFD1):c.2387+11C>T
|
rs140369491
|
0.02280
|
NM_003611.3(OFD1):c.714T>C (p.Tyr238=)
|
rs139848884
|
0.00637
|
NM_003611.3(OFD1):c.1020G>A (p.Glu340=)
|
rs5979959
|
0.00630
|
NM_003611.3(OFD1):c.2929-18C>T
|
rs180940027
|
0.00601
|
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu)
|
rs61746932
|
0.00584
|
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr)
|
rs149647255
|
0.00381
|
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)
|
rs145300245
|
0.00298
|
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu)
|
rs148239437
|
0.00227
|
NM_003611.3(OFD1):c.517+20T>C
|
rs139112266
|
0.00200
|
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly)
|
rs143954823
|
0.00187
|
NM_003611.3(OFD1):c.1654+8A>G
|
rs200767363
|
0.00184
|
NM_003611.3(OFD1):c.1654+14T>A
|
rs192720874
|
0.00131
|
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly)
|
rs139406798
|
0.00049
|
NM_003611.3(OFD1):c.1654+9C>T
|
rs200007045
|
0.00044
|
NM_003611.3(OFD1):c.1543-19C>G
|
rs201761130
|
0.00041
|
NM_003611.3(OFD1):c.919G>A (p.Val307Ile)
|
rs139444990
|
0.00041
|
NM_003611.3(OFD1):c.276T>C (p.Ser92=)
|
rs201675886
|
0.00034
|
NM_003611.3(OFD1):c.2376G>A (p.Glu792=)
|
rs183241931
|
0.00026
|
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu)
|
rs142352920
|
0.00024
|
NM_003611.3(OFD1):c.1129+8T>A
|
rs199572133
|
0.00023
|
NM_003611.3(OFD1):c.2260+12G>A
|
rs375507459
|
0.00023
|
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg)
|
rs146047094
|
0.00023
|
NM_003611.3(OFD1):c.1730A>G (p.Asn577Ser)
|
rs200465596
|
0.00017
|
NM_003611.3(OFD1):c.2488+13A>G
|
rs369270604
|
0.00017
|
NM_003611.3(OFD1):c.2235C>T (p.Ser745=)
|
rs372503752
|
0.00015
|
NM_003611.3(OFD1):c.2959C>A (p.Leu987Ile)
|
rs148543618
|
0.00014
|
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu)
|
rs146251034
|
0.00013
|
NM_003611.3(OFD1):c.1399C>T (p.Arg467Cys)
|
rs140561107
|
0.00012
|
NM_003611.3(OFD1):c.853C>G (p.Gln285Glu)
|
rs200760486
|
0.00012
|
NM_003611.3(OFD1):c.1536A>G (p.Gln512=)
|
rs138532127
|
0.00011
|
NM_003611.3(OFD1):c.1961G>A (p.Arg654Gln)
|
rs746612831
|
0.00011
|
NM_003611.3(OFD1):c.2600-4T>G
|
rs753195130
|
0.00011
|
NM_003611.3(OFD1):c.780C>T (p.Leu260=)
|
rs368900892
|
0.00011
|
NM_003611.3(OFD1):c.781G>A (p.Val261Ile)
|
rs149733425
|
0.00011
|
NM_003611.3(OFD1):c.795G>A (p.Lys265=)
|
rs745443262
|
0.00011
|
NM_003611.3(OFD1):c.936-2A>G
|
rs199902986
|
0.00011
|
NM_003611.3(OFD1):c.1128A>C (p.Lys376Asn)
|
rs758883184
|
0.00010
|
NM_003611.3(OFD1):c.2928+18A>G
|
rs756838502
|
0.00010
|
NM_003611.3(OFD1):c.935+12A>G
|
rs199773671
|
0.00010
|
NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser)
|
rs532274932
|
0.00009
|
NM_003611.3(OFD1):c.2192C>T (p.Ser731Phe)
|
rs375698090
|
0.00009
|
NM_003611.3(OFD1):c.476T>C (p.Met159Thr)
|
rs141708295
|
0.00009
|
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)
|
rs797045846
|
0.00008
|
NM_003611.3(OFD1):c.679A>G (p.Ile227Val)
|
rs748477774
|
0.00008
|
NM_003611.3(OFD1):c.1620C>T (p.Ala540=)
|
rs142659184
|
0.00007
|
NM_003611.3(OFD1):c.1742G>A (p.Cys581Tyr)
|
rs201230660
|
0.00007
|
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln)
|
rs146930931
|
0.00007
|
NM_003611.3(OFD1):c.2260+15C>G
|
rs768776950
|
0.00007
|
NM_003611.3(OFD1):c.2260+8A>G
|
rs768452237
|
0.00007
|
NM_003611.3(OFD1):c.2319A>G (p.Pro773=)
|
rs752137789
|
0.00007
|
NM_003611.3(OFD1):c.3024A>G (p.Leu1008=)
|
rs1015323092
|
0.00007
|
NM_003611.3(OFD1):c.355C>A (p.Pro119Thr)
|
rs202103941
|
0.00007
|
NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg)
|
rs373792491
|
0.00006
|
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys)
|
rs185831378
|
0.00006
|
NM_003611.3(OFD1):c.2139C>T (p.Val713=)
|
rs764423950
|
0.00006
|
NM_003611.3(OFD1):c.2757+8G>A
|
rs766626739
|
0.00006
|
NM_003611.3(OFD1):c.282C>T (p.Phe94=)
|
rs762169661
|
0.00006
|
NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys)
|
rs772233258
|
0.00006
|
NM_003611.3(OFD1):c.432A>G (p.Leu144=)
|
rs759705433
|
0.00006
|
NM_003611.3(OFD1):c.451C>T (p.His151Tyr)
|
rs137993158
|
0.00006
|
NM_003611.3(OFD1):c.1347A>G (p.Ala449=)
|
rs151287373
|
0.00005
|
NM_003611.3(OFD1):c.1460G>A (p.Arg487Gln)
|
rs147104722
|
0.00005
|
NM_003611.3(OFD1):c.2010A>G (p.Pro670=)
|
rs772960582
|
0.00005
|
NM_003611.3(OFD1):c.2489-17A>C
|
rs182042414
|
0.00005
|
NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln)
|
rs371848382
|
0.00005
|
NM_003611.3(OFD1):c.567G>A (p.Gln189=)
|
rs375104416
|
0.00005
|
NM_003611.3(OFD1):c.858G>A (p.Arg286=)
|
rs778507612
|
0.00005
|
NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys)
|
rs1374240720
|
0.00004
|
NM_003611.3(OFD1):c.1469A>G (p.Glu490Gly)
|
rs754484224
|
0.00004
|
NM_003611.3(OFD1):c.1490A>C (p.His497Pro)
|
rs772474080
|
0.00004
|
NM_003611.3(OFD1):c.1622A>T (p.Asp541Val)
|
rs369907952
|
0.00004
|
NM_003611.3(OFD1):c.2239G>A (p.Glu747Lys)
|
rs761915805
|
0.00004
|
NM_003611.3(OFD1):c.2523C>T (p.Gly841=)
|
rs757258869
|
0.00004
|
NM_003611.3(OFD1):c.2700C>A (p.Asn900Lys)
|
rs770634301
|
0.00004
|
NM_003611.3(OFD1):c.2757+14C>T
|
rs755443772
|
0.00004
|
NM_003611.3(OFD1):c.2991C>T (p.Val997=)
|
rs373088434
|
0.00004
|
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)
|
rs756793358
|
0.00004
|
NM_003611.3(OFD1):c.1102C>G (p.Leu368Val)
|
rs192285113
|
0.00003
|
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala)
|
rs529916753
|
0.00003
|
NM_003611.3(OFD1):c.1839T>C (p.Thr613=)
|
rs760463802
|
0.00003
|
NM_003611.3(OFD1):c.1926C>T (p.Ala642=)
|
rs757775981
|
0.00003
|
NM_003611.3(OFD1):c.2030A>T (p.Glu677Val)
|
rs370183911
|
0.00003
|
NM_003611.3(OFD1):c.2100G>A (p.Glu700=)
|
rs780655531
|
0.00003
|
NM_003611.3(OFD1):c.2177G>A (p.Arg726His)
|
rs750984782
|
0.00003
|
NM_003611.3(OFD1):c.2261-8C>T
|
rs374969350
|
0.00003
|
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val)
|
rs779051357
|
0.00003
|
NM_003611.3(OFD1):c.2538C>T (p.Ala846=)
|
rs201362700
|
0.00003
|
NM_003611.3(OFD1):c.2708A>T (p.Glu903Val)
|
rs761100130
|
0.00003
|
NM_003611.3(OFD1):c.2938A>C (p.Lys980Gln)
|
rs748952285
|
0.00003
|
NM_003611.3(OFD1):c.2953G>A (p.Gly985Ser)
|
rs757837343
|
0.00003
|
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)
|
rs763219658
|
0.00003
|
NM_003611.3(OFD1):c.412+10G>A
|
rs201837087
|
0.00003
|
NM_003611.3(OFD1):c.517+8T>C
|
rs373361154
|
0.00003
|
NM_003611.3(OFD1):c.688A>G (p.Ile230Val)
|
rs770131832
|
0.00003
|
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys)
|
rs758712291
|
0.00002
|
NM_003611.3(OFD1):c.1400G>A (p.Arg467His)
|
rs375577267
|
0.00002
|
NM_003611.3(OFD1):c.1542+13C>T
|
rs1253138718
|
0.00002
|
NM_003611.3(OFD1):c.1639A>G (p.Lys547Glu)
|
rs1054393663
|
0.00002
|
NM_003611.3(OFD1):c.1646C>T (p.Thr549Ile)
|
rs1275319013
|
0.00002
|
NM_003611.3(OFD1):c.1703G>A (p.Arg568His)
|
rs376012267
|
0.00002
|
NM_003611.3(OFD1):c.1837A>G (p.Thr613Ala)
|
rs775062213
|
0.00002
|
NM_003611.3(OFD1):c.195A>C (p.Glu65Asp)
|
rs1060500184
|
0.00002
|
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe)
|
rs149473481
|
0.00002
|
NM_003611.3(OFD1):c.2078G>A (p.Gly693Glu)
|
rs754615597
|
0.00002
|
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu)
|
rs746300545
|
0.00002
|
NM_003611.3(OFD1):c.2169G>A (p.Ser723=)
|
rs984001995
|
0.00002
|
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys)
|
rs1260959326
|
0.00002
|
NM_003611.3(OFD1):c.2197C>T (p.Arg733Cys)
|
rs1376239977
|
0.00002
|
NM_003611.3(OFD1):c.2223A>G (p.Lys741=)
|
rs1355239331
|
0.00002
|
NM_003611.3(OFD1):c.2258A>C (p.Glu753Ala)
|
rs1382696572
|
0.00002
|
NM_003611.3(OFD1):c.2305A>G (p.Arg769Gly)
|
rs759933503
|
0.00002
|
NM_003611.3(OFD1):c.2327C>G (p.Thr776Ser)
|
rs1602907726
|
0.00002
|
NM_003611.3(OFD1):c.2489-11G>A
|
rs766174993
|
0.00002
|
NM_003611.3(OFD1):c.2541G>A (p.Gly847=)
|
rs780435482
|
0.00002
|
NM_003611.3(OFD1):c.2788A>T (p.Ile930Leu)
|
rs745495276
|
0.00002
|
NM_003611.3(OFD1):c.2927A>C (p.Lys976Thr)
|
rs1458317780
|
0.00002
|
NM_003611.3(OFD1):c.382G>C (p.Val128Leu)
|
rs766600036
|
0.00002
|
NM_003611.3(OFD1):c.569G>A (p.Arg190His)
|
rs150560046
|
0.00002
|
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp)
|
rs776834508
|
0.00002
|
NM_003611.3(OFD1):c.655-13G>C
|
rs753706475
|
0.00002
|
NM_003611.3(OFD1):c.656T>G (p.Leu219Trp)
|
rs780055525
|
0.00002
|
NM_003611.3(OFD1):c.710A>G (p.Lys237Arg)
|
rs1179498927
|
0.00002
|
NM_003611.3(OFD1):c.816C>T (p.His272=)
|
rs748363967
|
0.00002
|
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)
|
rs758903488
|
0.00001
|
NM_003611.3(OFD1):c.1081T>C (p.Tyr361His)
|
rs991181381
|
0.00001
|
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln)
|
rs312262864
|
0.00001
|
NM_003611.3(OFD1):c.1111G>A (p.Asp371Asn)
|
rs373202088
|
0.00001
|
NM_003611.3(OFD1):c.1205G>A (p.Arg402His)
|
rs1283023888
|
0.00001
|
NM_003611.3(OFD1):c.1278G>A (p.Met426Ile)
|
rs756825275
|
0.00001
|
NM_003611.3(OFD1):c.1300A>T (p.Met434Leu)
|
rs1191893961
|
0.00001
|
NM_003611.3(OFD1):c.1317A>G (p.Leu439=)
|
rs907245341
|
0.00001
|
NM_003611.3(OFD1):c.1427C>T (p.Ala476Val)
|
rs1189655158
|
0.00001
|
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys)
|
rs1454731121
|
0.00001
|
NM_003611.3(OFD1):c.1479A>C (p.Ile493=)
|
rs746039988
|
0.00001
|
NM_003611.3(OFD1):c.1497G>A (p.Glu499=)
|
rs912035192
|
0.00001
|
NM_003611.3(OFD1):c.149A>G (p.His50Arg)
|
rs863225213
|
0.00001
|
NM_003611.3(OFD1):c.1543-3C>T
|
rs1427426943
|
0.00001
|
NM_003611.3(OFD1):c.156A>T (p.Val52=)
|
rs779489279
|
0.00001
|
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile)
|
rs780521580
|
0.00001
|
NM_003611.3(OFD1):c.1617T>G (p.Val539=)
|
rs1156292139
|
0.00001
|
NM_003611.3(OFD1):c.1654+13T>A
|
rs756014664
|
0.00001
|
NM_003611.3(OFD1):c.1699G>A (p.Asp567Asn)
|
rs760663674
|
0.00001
|
NM_003611.3(OFD1):c.1719A>G (p.Leu573=)
|
rs1186088715
|
0.00001
|
NM_003611.3(OFD1):c.1737G>A (p.Val579=)
|
rs766430580
|
0.00001
|
NM_003611.3(OFD1):c.1785A>G (p.Lys595=)
|
rs1225998238
|
0.00001
|
NM_003611.3(OFD1):c.1848G>A (p.Val616=)
|
rs1200724381
|
0.00001
|
NM_003611.3(OFD1):c.1947C>T (p.Phe649=)
|
rs771499971
|
0.00001
|
NM_003611.3(OFD1):c.1960C>T (p.Arg654Trp)
|
rs779709673
|
0.00001
|
NM_003611.3(OFD1):c.198G>A (p.Gly66=)
|
rs776103115
|
0.00001
|
NM_003611.3(OFD1):c.2028G>A (p.Leu676=)
|
rs775904671
|
0.00001
|
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile)
|
rs773224811
|
0.00001
|
NM_003611.3(OFD1):c.2136C>T (p.Asp712=)
|
rs775705991
|
0.00001
|
NM_003611.3(OFD1):c.2140G>A (p.Val714Met)
|
rs797045845
|
0.00001
|
NM_003611.3(OFD1):c.2148A>G (p.Ala716=)
|
rs1183295175
|
0.00001
|
NM_003611.3(OFD1):c.2188T>A (p.Ser730Thr)
|
rs780934031
|
0.00001
|
NM_003611.3(OFD1):c.223A>G (p.Asn75Asp)
|
rs760347311
|
0.00001
|
NM_003611.3(OFD1):c.2289C>A (p.Pro763=)
|
rs947500861
|
0.00001
|
NM_003611.3(OFD1):c.2388-3T>C
|
rs1301197444
|
0.00001
|
NM_003611.3(OFD1):c.2467G>A (p.Glu823Lys)
|
rs1282756613
|
0.00001
|
NM_003611.3(OFD1):c.2505A>G (p.Pro835=)
|
rs759468353
|
0.00001
|
NM_003611.3(OFD1):c.2514G>C (p.Leu838Phe)
|
rs1443995525
|
0.00001
|
NM_003611.3(OFD1):c.2525G>C (p.Gly842Ala)
|
rs201180146
|
0.00001
|
NM_003611.3(OFD1):c.2539G>A (p.Gly847Arg)
|
rs1178559792
|
0.00001
|
NM_003611.3(OFD1):c.2559C>T (p.Asp853=)
|
rs1398505825
|
0.00001
|
NM_003611.3(OFD1):c.255T>C (p.Cys85=)
|
rs766158020
|
0.00001
|
NM_003611.3(OFD1):c.2598A>C (p.Pro866=)
|
rs2048026816
|
0.00001
|
NM_003611.3(OFD1):c.2710G>A (p.Val904Ile)
|
rs775451384
|
0.00001
|
NM_003611.3(OFD1):c.2970G>A (p.Thr990=)
|
rs1602946302
|
0.00001
|
NM_003611.3(OFD1):c.2987A>G (p.Lys996Arg)
|
rs777790587
|
0.00001
|
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp)
|
rs1235702491
|
0.00001
|
NM_003611.3(OFD1):c.313G>A (p.Val105Ile)
|
rs772018123
|
0.00001
|
NM_003611.3(OFD1):c.345T>G (p.Ile115Met)
|
rs751918276
|
0.00001
|
NM_003611.3(OFD1):c.359C>T (p.Thr120Ile)
|
rs777207192
|
0.00001
|
NM_003611.3(OFD1):c.387A>G (p.Ser129=)
|
rs1471986431
|
0.00001
|
NM_003611.3(OFD1):c.417T>C (p.Phe139=)
|
rs770850686
|
0.00001
|
NM_003611.3(OFD1):c.495G>C (p.Ser165=)
|
rs764608728
|
0.00001
|
NM_003611.3(OFD1):c.518-5A>G
|
rs754852025
|
0.00001
|
NM_003611.3(OFD1):c.579C>T (p.Phe193=)
|
rs780256374
|
0.00001
|
NM_003611.3(OFD1):c.655-9A>G
|
rs758500578
|
0.00001
|
NM_003611.3(OFD1):c.705A>G (p.Lys235=)
|
rs773888732
|
0.00001
|
NM_003611.3(OFD1):c.729C>T (p.Thr243=)
|
rs1254615288
|
0.00001
|
NM_003611.3(OFD1):c.788G>A (p.Arg263Gln)
|
rs146279923
|
0.00001
|
NM_003611.3(OFD1):c.797G>C (p.Ser266Thr)
|
rs1354561362
|
0.00001
|
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)
|
rs778349684
|
0.00001
|
NM_003611.3(OFD1):c.935+4A>G
|
rs1243725011
|
0.00001
|
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly)
|
rs764424025
|
0.00001
|
NM_003611.3(OFD1):c.972A>G (p.Ile324Met)
|
rs2047490451
|
0.00001
|
NM_003611.3(OFD1):c.984T>G (p.Leu328=)
|
rs61734977
|
0.00001
|
NC_000023.10:g.(?_13753081)_(13765093_?)del
|
|
|
NC_000023.10:g.(?_13753185)_(13787232_?)dup
|
|
|
NC_000023.11:g.(?_13735066)_(13769113_?)del
|
|
|
NM_003611.2(OFD1):c.(?_-1)_(*1_?)dup
|
|
|
NM_003611.2(OFD1):c.-359-?_*253+?dup
|
|
|
NM_003611.3(OFD1):c.1005A>G (p.Ile335Met)
|
|
|
NM_003611.3(OFD1):c.1007dup (p.Ser337fs)
|
rs749448671
|
|
NM_003611.3(OFD1):c.1030C>G (p.Arg344Gly)
|
rs758903488
|
|
NM_003611.3(OFD1):c.1033A>C (p.Lys345Gln)
|
|
|
NM_003611.3(OFD1):c.1055+10T>C
|
|
|
NM_003611.3(OFD1):c.1055+12G>A
|
|
|
NM_003611.3(OFD1):c.1055A>C (p.Lys352Thr)
|
|
|
NM_003611.3(OFD1):c.1055A>G (p.Lys352Arg)
|
rs779494159
|
|
NM_003611.3(OFD1):c.1056-11C>T
|
|
|
NM_003611.3(OFD1):c.1056-15C>T
|
|
|
NM_003611.3(OFD1):c.1056-21_1056-18del
|
|
|
NM_003611.3(OFD1):c.1056-3C>G
|
|
|
NM_003611.3(OFD1):c.1066G>C (p.Glu356Gln)
|
|
|
NM_003611.3(OFD1):c.1073A>G (p.Lys358Arg)
|
|
|
NM_003611.3(OFD1):c.1086C>G (p.Ile362Met)
|
|
|
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter)
|
rs312262863
|
|
NM_003611.3(OFD1):c.1100G>C (p.Arg367Pro)
|
|
|
NM_003611.3(OFD1):c.1114G>T (p.Glu372Ter)
|
|
|
NM_003611.3(OFD1):c.112-18_112-13del
|
|
|
NM_003611.3(OFD1):c.112-4C>G
|
rs1006144968
|
|
NM_003611.3(OFD1):c.1129+10G>C
|
|
|
NM_003611.3(OFD1):c.1129+11G>A
|
|
|
NM_003611.3(OFD1):c.1129+12G>C
|
|
|
NM_003611.3(OFD1):c.1129+15dup
|
|
|
NM_003611.3(OFD1):c.1129+20T>C
|
|
|
NM_003611.3(OFD1):c.1129+9dup
|
rs1384741515
|
|
NM_003611.3(OFD1):c.1130-12C>T
|
|
|
NM_003611.3(OFD1):c.1130-13G>T
|
rs1408701141
|
|
NM_003611.3(OFD1):c.1130-21A>T
|
|
|
NM_003611.3(OFD1):c.1130-22A>C
|
|
|
NM_003611.3(OFD1):c.1130-4dup
|
rs759385204
|
|
NM_003611.3(OFD1):c.1141C>A (p.His381Asn)
|
|
|
NM_003611.3(OFD1):c.1141C>G (p.His381Asp)
|
|
|
NM_003611.3(OFD1):c.1155G>T (p.Glu385Asp)
|
rs2147016302
|
|
NM_003611.3(OFD1):c.1172C>T (p.Ser391Leu)
|
|
|
NM_003611.3(OFD1):c.1190A>G (p.Asn397Ser)
|
|
|
NM_003611.3(OFD1):c.1194A>G (p.Gln398=)
|
|
|
NM_003611.3(OFD1):c.1196C>G (p.Ser399Cys)
|
|
|
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)
|
rs312262810
|
|
NM_003611.3(OFD1):c.1220_1221+1del
|
|
|
NM_003611.3(OFD1):c.1221+14A>T
|
rs2147016910
|
|
NM_003611.3(OFD1):c.1221+7_1221+8del
|
rs2147016859
|
|
NM_003611.3(OFD1):c.1221_1221+13del
|
rs2147016815
|
|
NM_003611.3(OFD1):c.1222-15C>G
|
|
|
NM_003611.3(OFD1):c.1237G>T (p.Val413Phe)
|
rs2147026202
|
|
NM_003611.3(OFD1):c.1258A>G (p.Ile420Val)
|
|
|
NM_003611.3(OFD1):c.1262C>G (p.Thr421Arg)
|
|
|
NM_003611.3(OFD1):c.1277T>C (p.Met426Thr)
|
rs1602883262
|
|
NM_003611.3(OFD1):c.1280T>C (p.Leu427Pro)
|
|
|
NM_003611.3(OFD1):c.1287A>G (p.Glu429=)
|
|
|
NM_003611.3(OFD1):c.1291G>T (p.Val431Phe)
|
|
|
NM_003611.3(OFD1):c.1300A>G (p.Met434Val)
|
|
|
NM_003611.3(OFD1):c.1306G>C (p.Asp436His)
|
|
|
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter)
|
rs1569141500
|
|
NM_003611.3(OFD1):c.1318C>T (p.Leu440=)
|
|
|
NM_003611.3(OFD1):c.1356A>G (p.Lys452=)
|
|
|
NM_003611.3(OFD1):c.135T>G (p.Ile45Met)
|
|
|
NM_003611.3(OFD1):c.1380G>A (p.Glu460=)
|
|
|
NM_003611.3(OFD1):c.1385G>A (p.Arg462Lys)
|
rs2147026919
|
|
NM_003611.3(OFD1):c.1395C>G (p.Asn465Lys)
|
|
|
NM_003611.3(OFD1):c.1397T>C (p.Leu466Pro)
|
|
|
NM_003611.3(OFD1):c.1399C>A (p.Arg467Ser)
|
rs140561107
|
|
NM_003611.3(OFD1):c.1401T>A (p.Arg467=)
|
|
|
NM_003611.3(OFD1):c.1404C>A (p.Leu468=)
|
|
|
NM_003611.3(OFD1):c.1411+11_1411+12dup
|
|
|
NM_003611.3(OFD1):c.1411+15T>C
|
rs2147027201
|
|
NM_003611.3(OFD1):c.1411+8T>G
|
|
|
NM_003611.3(OFD1):c.1412-11T>A
|
|
|
NM_003611.3(OFD1):c.1412-6T>C
|
|
|
NM_003611.3(OFD1):c.1412-7T>G
|
rs2147032358
|
|
NM_003611.3(OFD1):c.1412G>C (p.Arg471Pro)
|
|
|
NM_003611.3(OFD1):c.1416A>G (p.Leu472=)
|
|
|
NM_003611.3(OFD1):c.1421A>C (p.Gln474Pro)
|
|
|
NM_003611.3(OFD1):c.1425G>C (p.Pro475=)
|
|
|
NM_003611.3(OFD1):c.142T>C (p.Leu48=)
|
|
|
NM_003611.3(OFD1):c.1443C>G (p.Val481=)
|
|
|
NM_003611.3(OFD1):c.1444T>C (p.Phe482Leu)
|
|
|
NM_003611.3(OFD1):c.1459C>T (p.Arg487Trp)
|
|
|
NM_003611.3(OFD1):c.145A>T (p.Met49Leu)
|
|
|
NM_003611.3(OFD1):c.1467C>T (p.Ala489=)
|
|
|
NM_003611.3(OFD1):c.1477A>G (p.Ile493Val)
|
|
|
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr)
|
rs2147032761
|
|
NM_003611.3(OFD1):c.148C>T (p.His50Tyr)
|
|
|
NM_003611.3(OFD1):c.1502A>C (p.Glu501Ala)
|
rs2147032914
|
|
NM_003611.3(OFD1):c.1517C>G (p.Ala506Gly)
|
|
|
NM_003611.3(OFD1):c.1522C>T (p.His508Tyr)
|
|
|
NM_003611.3(OFD1):c.1539C>T (p.Asp513=)
|
|
|
NM_003611.3(OFD1):c.1542+19C>T
|
rs2147033118
|
|
NM_003611.3(OFD1):c.1543-10A>G
|
|
|
NM_003611.3(OFD1):c.1543-14C>T
|
rs2147036091
|
|
NM_003611.3(OFD1):c.1543-4T>G
|
rs2147036166
|
|
NM_003611.3(OFD1):c.1544T>G (p.Ile515Ser)
|
|
|
NM_003611.3(OFD1):c.1545T>C (p.Ile515=)
|
|
|
NM_003611.3(OFD1):c.1566G>A (p.Lys522=)
|
|
|
NM_003611.3(OFD1):c.1574T>A (p.Ile525Asn)
|
|
|
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly)
|
rs2047794483
|
|
NM_003611.3(OFD1):c.1600A>G (p.Ser534Gly)
|
|
|
NM_003611.3(OFD1):c.1621G>A (p.Asp541Asn)
|
|
|
NM_003611.3(OFD1):c.1622A>G (p.Asp541Gly)
|
rs369907952
|
|
NM_003611.3(OFD1):c.1636C>G (p.Leu546Val)
|
rs2147036654
|
|
NM_003611.3(OFD1):c.1651_1654del (p.Thr551fs)
|
|
|
NM_003611.3(OFD1):c.1652C>G (p.Thr551Arg)
|
|
|
NM_003611.3(OFD1):c.1654+17C>T
|
rs2047798661
|
|
NM_003611.3(OFD1):c.1655-4G>A
|
|
|
NM_003611.3(OFD1):c.1655-9A>T
|
|
|
NM_003611.3(OFD1):c.1662G>A (p.Glu554=)
|
rs1238971253
|
|
NM_003611.3(OFD1):c.1668A>C (p.Glu556Asp)
|
|
|
NM_003611.3(OFD1):c.1698C>T (p.Ile566=)
|
rs1019902525
|
|
NM_003611.3(OFD1):c.1712A>G (p.Asn571Ser)
|
|
|
NM_003611.3(OFD1):c.1732GTG[3] (p.Val579_Pro580insVal)
|
|
|
NM_003611.3(OFD1):c.1738C>T (p.Pro580Ser)
|
rs2047873725
|
|
NM_003611.3(OFD1):c.1743C>A (p.Cys581Ter)
|
|
|
NM_003611.3(OFD1):c.1743C>G (p.Cys581Trp)
|
|
|
NM_003611.3(OFD1):c.1743C>T (p.Cys581=)
|
|
|
NM_003611.3(OFD1):c.1760G>A (p.Gly587Glu)
|
|
|
NM_003611.3(OFD1):c.1768T>C (p.Leu590=)
|
rs2147047726
|
|
NM_003611.3(OFD1):c.1784A>G (p.Lys595Arg)
|
|
|
NM_003611.3(OFD1):c.178C>A (p.Arg60=)
|
|
|
NM_003611.3(OFD1):c.178C>T (p.Arg60Trp)
|
|
|
NM_003611.3(OFD1):c.1793A>G (p.Asn598Ser)
|
rs2147047869
|
|
NM_003611.3(OFD1):c.1794C>T (p.Asn598=)
|
|
|
NM_003611.3(OFD1):c.1795G>A (p.Val599Ile)
|
|
|
NM_003611.3(OFD1):c.1800A>G (p.Leu600=)
|
|
|
NM_003611.3(OFD1):c.1809G>T (p.Met603Ile)
|
|
|
NM_003611.3(OFD1):c.1829A>G (p.Asn610Ser)
|
rs373706613
|
|
NM_003611.3(OFD1):c.1859C>A (p.Ser620Tyr)
|
|
|
NM_003611.3(OFD1):c.1859C>T (p.Ser620Phe)
|
|
|
NM_003611.3(OFD1):c.1879T>C (p.Phe627Leu)
|
|
|
NM_003611.3(OFD1):c.1892C>G (p.Thr631Ser)
|
|
|
NM_003611.3(OFD1):c.1894A>G (p.Lys632Glu)
|
|
|
NM_003611.3(OFD1):c.1898C>G (p.Ala633Gly)
|
rs1367636282
|
|
NM_003611.3(OFD1):c.1927G>T (p.Glu643Ter)
|
|
|
NM_003611.3(OFD1):c.1942G>T (p.Ala648Ser)
|
|
|
NM_003611.3(OFD1):c.1943C>T (p.Ala648Val)
|
|
|
NM_003611.3(OFD1):c.1968C>T (p.Val656=)
|
|
|
NM_003611.3(OFD1):c.1980dup (p.Ala661fs)
|
rs2047883109
|
|
NM_003611.3(OFD1):c.198del (p.Ser67fs)
|
|
|
NM_003611.3(OFD1):c.1993C>T (p.Leu665=)
|
rs1742426055
|
|
NM_003611.3(OFD1):c.1994T>C (p.Leu665Pro)
|
rs769788132
|
|
NM_003611.3(OFD1):c.2009C>T (p.Pro670Leu)
|
|
|
NM_003611.3(OFD1):c.2011C>T (p.Pro671Ser)
|
|
|
NM_003611.3(OFD1):c.2043C>T (p.Asn681=)
|
|
|
NM_003611.3(OFD1):c.2046T>G (p.Ile682Met)
|
|
|
NM_003611.3(OFD1):c.2052C>G (p.Ser684=)
|
rs61742891
|
|
NM_003611.3(OFD1):c.2052C>T (p.Ser684=)
|
rs61742891
|
|
NM_003611.3(OFD1):c.2061G>A (p.Pro687=)
|
rs757923355
|
|
NM_003611.3(OFD1):c.2071A>G (p.Ile691Val)
|
rs2147049159
|
|
NM_003611.3(OFD1):c.2082G>C (p.Glu694Asp)
|
|
|
NM_003611.3(OFD1):c.2101C>T (p.Gln701Ter)
|
|
|
NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs)
|
rs312262890
|
|
NM_003611.3(OFD1):c.2129G>C (p.Arg710Thr)
|
rs2147049470
|
|
NM_003611.3(OFD1):c.2152A>G (p.Thr718Ala)
|
|
|
NM_003611.3(OFD1):c.2166C>T (p.Ala722=)
|
|
|
NM_003611.3(OFD1):c.216C>A (p.Gly72=)
|
rs369907022
|
|
NM_003611.3(OFD1):c.216C>T (p.Gly72=)
|
|
|
NM_003611.3(OFD1):c.2171G>A (p.Arg724Lys)
|
|
|
NM_003611.3(OFD1):c.2178C>T (p.Arg726=)
|
|
|
NM_003611.3(OFD1):c.2179G>A (p.Gly727Arg)
|
|
|
NM_003611.3(OFD1):c.2182G>A (p.Gly728Ser)
|
|
|
NM_003611.3(OFD1):c.2190C>T (p.Ser730=)
|
rs2147049749
|
|
NM_003611.3(OFD1):c.2202C>G (p.Leu734=)
|
|
|
NM_003611.3(OFD1):c.2209A>G (p.Thr737Ala)
|
|
|
NM_003611.3(OFD1):c.2210C>A (p.Thr737Lys)
|
rs747090131
|
|
NM_003611.3(OFD1):c.2227A>G (p.Lys743Glu)
|
|
|
NM_003611.3(OFD1):c.2233A>C (p.Ser745Arg)
|
|
|
NM_003611.3(OFD1):c.2236C>T (p.Leu746Phe)
|
|
|
NM_003611.3(OFD1):c.2238C>T (p.Leu746=)
|
|
|
NM_003611.3(OFD1):c.2261-6C>G
|
rs769923969
|
|
NM_003611.3(OFD1):c.2261-6C>T
|
|
|
NM_003611.3(OFD1):c.2261-7A>G
|
|
|
NM_003611.3(OFD1):c.2261G>A (p.Gly754Asp)
|
|
|
NM_003611.3(OFD1):c.2268C>G (p.Gly756=)
|
rs2147052123
|
|
NM_003611.3(OFD1):c.2270G>C (p.Arg757Thr)
|
|
|
NM_003611.3(OFD1):c.227C>T (p.Ser76Phe)
|
rs1569102409
|
|
NM_003611.3(OFD1):c.2289C>G (p.Pro763=)
|
rs947500861
|
|
NM_003611.3(OFD1):c.2290A>C (p.Ser764Arg)
|
|
|
NM_003611.3(OFD1):c.229T>C (p.Leu77=)
|
|
|
NM_003611.3(OFD1):c.2308A>G (p.Met770Val)
|
|
|
NM_003611.3(OFD1):c.2328T>A (p.Thr776=)
|
|
|
NM_003611.3(OFD1):c.2332T>G (p.Ser778Ala)
|
|
|
NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)
|
|
|
NM_003611.3(OFD1):c.2348C>G (p.Ser783Cys)
|
|
|
NM_003611.3(OFD1):c.2351_2365dup (p.Ser788_Ser789insIleProProValSer)
|
|
|
NM_003611.3(OFD1):c.2362T>A (p.Ser788Thr)
|
|
|
NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)
|
|
|
NM_003611.3(OFD1):c.2373G>A (p.Pro791=)
|
rs369277849
|
|
NM_003611.3(OFD1):c.2373G>T (p.Pro791=)
|
rs369277849
|
|
NM_003611.3(OFD1):c.2381A>G (p.Lys794Arg)
|
|
|
NM_003611.3(OFD1):c.2384T>C (p.Val795Ala)
|
|
|
NM_003611.3(OFD1):c.2386G>T (p.Gly796Cys)
|
|
|
NM_003611.3(OFD1):c.2387+12G>A
|
|
|
NM_003611.3(OFD1):c.2387+16T>G
|
|
|
NM_003611.3(OFD1):c.2388-1G>A
|
|
|
NM_003611.3(OFD1):c.2395C>T (p.Arg799Ter)
|
|
|
NM_003611.3(OFD1):c.2396G>A (p.Arg799Gln)
|
|
|
NM_003611.3(OFD1):c.2414A>G (p.Gln805Arg)
|
|
|
NM_003611.3(OFD1):c.2420A>G (p.Lys807Arg)
|
|
|
NM_003611.3(OFD1):c.2423G>A (p.Ser808Asn)
|
|
|
NM_003611.3(OFD1):c.2450C>T (p.Ala817Val)
|
|
|
NM_003611.3(OFD1):c.2464GAG[1] (p.Glu823del)
|
rs771984968
|
|
NM_003611.3(OFD1):c.2465A>G (p.Glu822Gly)
|
|
|
NM_003611.3(OFD1):c.2488+14_2488+19del
|
rs781190242
|
|
NM_003611.3(OFD1):c.2489-10C>T
|
|
|
NM_003611.3(OFD1):c.2489-13G>A
|
|
|
NM_003611.3(OFD1):c.2489-15T>G
|
rs2147066461
|
|
NM_003611.3(OFD1):c.2489-16A>G
|
|
|
NM_003611.3(OFD1):c.2499C>T (p.Asn833=)
|
rs2147066586
|
|
NM_003611.3(OFD1):c.2502G>A (p.Met834Ile)
|
|
|
NM_003611.3(OFD1):c.2508G>A (p.Arg836=)
|
|
|
NM_003611.3(OFD1):c.2510A>C (p.Gln837Pro)
|
|
|
NM_003611.3(OFD1):c.2514G>A (p.Leu838=)
|
rs1443995525
|
|
NM_003611.3(OFD1):c.2519T>C (p.Met840Thr)
|
|
|
NM_003611.3(OFD1):c.2542G>A (p.Asp848Asn)
|
|
|
NM_003611.3(OFD1):c.2543A>G (p.Asp848Gly)
|
|
|
NM_003611.3(OFD1):c.2546T>G (p.Met849Arg)
|
|
|
NM_003611.3(OFD1):c.2560G>A (p.Ala854Thr)
|
|
|
NM_003611.3(OFD1):c.2567C>T (p.Ala856Val)
|
|
|
NM_003611.3(OFD1):c.257G>A (p.Gly86Asp)
|
rs2046878445
|
|
NM_003611.3(OFD1):c.2586A>G (p.Ser862=)
|
|
|
NM_003611.3(OFD1):c.2588A>G (p.Tyr863Cys)
|
|
|
NM_003611.3(OFD1):c.2592G>T (p.Gln864His)
|
rs2147067144
|
|
NM_003611.3(OFD1):c.2595C>T (p.His865=)
|
|
|
NM_003611.3(OFD1):c.2596C>A (p.Pro866Thr)
|
|
|
NM_003611.3(OFD1):c.2599+4A>C
|
|
|
NM_003611.3(OFD1):c.2599+5del
|
|
|
NM_003611.3(OFD1):c.2599+8C>T
|
|
|
NM_003611.3(OFD1):c.2600-17_2600-9del
|
|
|
NM_003611.3(OFD1):c.2600-5A>G
|
rs1555908520
|
|
NM_003611.3(OFD1):c.2600-5_2600del
|
|
|
NM_003611.3(OFD1):c.2600-6_2600-3dup
|
|
|
NM_003611.3(OFD1):c.2600-7del
|
rs761400373
|
|
NM_003611.3(OFD1):c.2600-9T>A
|
|
|
NM_003611.3(OFD1):c.2609A>G (p.Gln870Arg)
|
|
|
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys)
|
rs312262818
|
|
NM_003611.3(OFD1):c.262_273del (p.Glu88_Leu91del)
|
|
|
NM_003611.3(OFD1):c.2632GAA[2] (p.Glu880del)
|
|
|
NM_003611.3(OFD1):c.2645T>C (p.Ile882Thr)
|
|
|
NM_003611.3(OFD1):c.2647C>A (p.Arg883=)
|
rs149790559
|
|
NM_003611.3(OFD1):c.2647C>T (p.Arg883Trp)
|
|
|
NM_003611.3(OFD1):c.2648G>A (p.Arg883Gln)
|
|
|
NM_003611.3(OFD1):c.264A>G (p.Glu88=)
|
|
|
NM_003611.3(OFD1):c.2655G>A (p.Gln885=)
|
|
|
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter)
|
rs863225212
|
|
NM_003611.3(OFD1):c.2669G>A (p.Arg890Gln)
|
|
|
NM_003611.3(OFD1):c.2672G>A (p.Arg891Lys)
|
|
|
NM_003611.3(OFD1):c.2689dup (p.Arg897fs)
|
|
|
NM_003611.3(OFD1):c.268T>G (p.Ser90Ala)
|
|
|
NM_003611.3(OFD1):c.2694G>C (p.Gln898His)
|
rs2048163178
|
|
NM_003611.3(OFD1):c.2701C>T (p.Leu901=)
|
rs773811355
|
|
NM_003611.3(OFD1):c.2705A>G (p.Gln902Arg)
|
|
|
NM_003611.3(OFD1):c.2708A>G (p.Glu903Gly)
|
|
|
NM_003611.3(OFD1):c.270A>C (p.Ser90=)
|
|
|
NM_003611.3(OFD1):c.2719A>G (p.Arg907Gly)
|
rs1569163323
|
|
NM_003611.3(OFD1):c.2721G>A (p.Arg907=)
|
|
|
NM_003611.3(OFD1):c.2725C>A (p.Arg909=)
|
|
|
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter)
|
rs1060500123
|
|
NM_003611.3(OFD1):c.2745_2746del (p.Tyr916fs)
|
rs2147082213
|
|
NM_003611.3(OFD1):c.2747A>G (p.Tyr916Cys)
|
|
|
NM_003611.3(OFD1):c.2757+17G>C
|
|
|
NM_003611.3(OFD1):c.2757+4dup
|
rs2048165387
|
|
NM_003611.3(OFD1):c.2757G>A (p.Arg919=)
|
rs2048165288
|
|
NM_003611.3(OFD1):c.275C>T (p.Ser92Phe)
|
|
|
NM_003611.3(OFD1):c.276T>A (p.Ser92=)
|
rs201675886
|
|
NM_003611.3(OFD1):c.2778G>T (p.Leu926=)
|
|
|
NM_003611.3(OFD1):c.2780A>T (p.Lys927Met)
|
|
|
NM_003611.3(OFD1):c.2784T>A (p.Ile928=)
|
rs2147086051
|
|
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs)
|
rs797044945
|
|
NM_003611.3(OFD1):c.2811A>G (p.Glu937=)
|
|
|
NM_003611.3(OFD1):c.2841A>G (p.Ile947Met)
|
rs2048202271
|
|
NM_003611.3(OFD1):c.2849A>C (p.Lys950Thr)
|
|
|
NM_003611.3(OFD1):c.2855C>T (p.Ala952Val)
|
|
|
NM_003611.3(OFD1):c.2867A>G (p.Asn956Ser)
|
|
|
NM_003611.3(OFD1):c.2873T>C (p.Leu958Ser)
|
rs2147086332
|
|
NM_003611.3(OFD1):c.2880A>G (p.Lys960=)
|
|
|
NM_003611.3(OFD1):c.2884A>G (p.Met962Val)
|
|
|
NM_003611.3(OFD1):c.288A>G (p.Pro96=)
|
rs2146913731
|
|
NM_003611.3(OFD1):c.2893A>C (p.Ile965Leu)
|
|
|
NM_003611.3(OFD1):c.2895C>T (p.Ile965=)
|
rs2147086446
|
|
NM_003611.3(OFD1):c.2904_2906dup (p.Gln969_Asp970insGln)
|
|
|
NM_003611.3(OFD1):c.2908G>A (p.Asp970Asn)
|
|
|
NM_003611.3(OFD1):c.2911C>G (p.Gln971Glu)
|
rs1274499805
|
|
NM_003611.3(OFD1):c.2923G>C (p.Asp975His)
|
|
|
NM_003611.3(OFD1):c.2924_2928+62inv
|
|
|
NM_003611.3(OFD1):c.2928+13T>C
|
rs2147086599
|
|
NM_003611.3(OFD1):c.2928+16_2928+22del
|
rs2147086617
|
|
NM_003611.3(OFD1):c.2928+7G>A
|
|
|
NM_003611.3(OFD1):c.2929-13T>C
|
|
|
NM_003611.3(OFD1):c.2929-17C>T
|
rs2147088855
|
|
NM_003611.3(OFD1):c.2929-20C>T
|
|
|
NM_003611.3(OFD1):c.2929-6A>G
|
rs2147088923
|
|
NM_003611.3(OFD1):c.2931C>T (p.Ser977=)
|
rs1555908984
|
|
NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn)
|
|
|
NM_003611.3(OFD1):c.2959C>T (p.Leu987=)
|
rs148543618
|
|
NM_003611.3(OFD1):c.2969C>G (p.Thr990Arg)
|
|
|
NM_003611.3(OFD1):c.2969C>T (p.Thr990Met)
|
|
|
NM_003611.3(OFD1):c.296G>A (p.Gly99Asp)
|
|
|
NM_003611.3(OFD1):c.2970G>T (p.Thr990=)
|
|
|
NM_003611.3(OFD1):c.2991C>G (p.Val997=)
|
rs373088434
|
|
NM_003611.3(OFD1):c.2992G>C (p.Glu998Gln)
|
|
|
NM_003611.3(OFD1):c.2996+16AC[2]
|
rs761270089
|
|
NM_003611.3(OFD1):c.2996+5C>T
|
|
|
NM_003611.3(OFD1):c.2996+7G>C
|
|
|
NM_003611.3(OFD1):c.2997-13T>C
|
|
|
NM_003611.3(OFD1):c.2997-6A>G
|
rs2048246741
|
|
NM_003611.3(OFD1):c.3002C>T (p.Thr1001Ile)
|
|
|
NM_003611.3(OFD1):c.3006C>G (p.Gly1002=)
|
|
|
NM_003611.3(OFD1):c.3009T>C (p.Phe1003=)
|
|
|
NM_003611.3(OFD1):c.3011C>G (p.Ser1004Cys)
|
rs1060500182
|
|
NM_003611.3(OFD1):c.3027C>G (p.Asp1009Glu)
|
rs758646234
|
|
NM_003611.3(OFD1):c.3027C>T (p.Asp1009=)
|
rs758646234
|
|
NM_003611.3(OFD1):c.304A>G (p.Lys102Glu)
|
|
|
NM_003611.3(OFD1):c.308_312del (p.Glu103fs)
|
|
|
NM_003611.3(OFD1):c.312+12C>G
|
|
|
NM_003611.3(OFD1):c.312+1G>T
|
rs1569102786
|
|
NM_003611.3(OFD1):c.313-16C>A
|
|
|
NM_003611.3(OFD1):c.336A>G (p.Leu112=)
|
|
|
NM_003611.3(OFD1):c.358A>G (p.Thr120Ala)
|
|
|
NM_003611.3(OFD1):c.360T>G (p.Thr120=)
|
|
|
NM_003611.3(OFD1):c.363C>A (p.Ser121=)
|
rs2146928280
|
|
NM_003611.3(OFD1):c.373A>C (p.Lys125Gln)
|
rs2146928358
|
|
NM_003611.3(OFD1):c.381+10C>G
|
|
|
NM_003611.3(OFD1):c.381+20G>A
|
|
|
NM_003611.3(OFD1):c.382-10_382-6del
|
|
|
NM_003611.3(OFD1):c.382G>A (p.Val128Ile)
|
rs766600036
|
|
NM_003611.3(OFD1):c.388G>C (p.Gly130Arg)
|
rs2146928806
|
|
NM_003611.3(OFD1):c.389G>T (p.Gly130Val)
|
|
|
NM_003611.3(OFD1):c.393T>G (p.Ser131=)
|
rs2146928832
|
|
NM_003611.3(OFD1):c.396T>A (p.Asp132Glu)
|
|
|
NM_003611.3(OFD1):c.400_403del (p.Glu134fs)
|
rs312262830
|
|
NM_003611.3(OFD1):c.412+10G>T
|
rs201837087
|
|
NM_003611.3(OFD1):c.412+9C>T
|
|
|
NM_003611.3(OFD1):c.413-11_413-10del
|
rs1192195829
|
|
NM_003611.3(OFD1):c.413-9del
|
rs2146959237
|
|
NM_003611.3(OFD1):c.422T>C (p.Met141Thr)
|
|
|
NM_003611.3(OFD1):c.450TCA[1] (p.His151del)
|
rs1569117650
|
|
NM_003611.3(OFD1):c.453T>G (p.His151Gln)
|
|
|
NM_003611.3(OFD1):c.491G>A (p.Ser164Asn)
|
|
|
NM_003611.3(OFD1):c.495G>T (p.Ser165=)
|
|
|
NM_003611.3(OFD1):c.497C>A (p.Thr166Lys)
|
|
|
NM_003611.3(OFD1):c.503A>G (p.Asn168Ser)
|
|
|
NM_003611.3(OFD1):c.505A>G (p.Arg169Gly)
|
|
|
NM_003611.3(OFD1):c.512C>A (p.Ser171Tyr)
|
|
|
NM_003611.3(OFD1):c.517+13_517+14delinsGC
|
rs2146959704
|
|
NM_003611.3(OFD1):c.518-17dup
|
|
|
NM_003611.3(OFD1):c.518-19A>G
|
|
|
NM_003611.3(OFD1):c.550G>A (p.Ala184Thr)
|
|
|
NM_003611.3(OFD1):c.556G>C (p.Ala186Pro)
|
rs1161161896
|
|
NM_003611.3(OFD1):c.560dup (p.Tyr187Ter)
|
rs1555902640
|
|
NM_003611.3(OFD1):c.565C>T (p.Gln189Ter)
|
rs2047298129
|
|
NM_003611.3(OFD1):c.568C>T (p.Arg190Cys)
|
rs962377226
|
|
NM_003611.3(OFD1):c.571A>G (p.Ile191Val)
|
|
|
NM_003611.3(OFD1):c.579C>G (p.Phe193Leu)
|
|
|
NM_003611.3(OFD1):c.602A>G (p.Asn201Ser)
|
|
|
NM_003611.3(OFD1):c.610A>G (p.Lys204Glu)
|
rs1060500183
|
|
NM_003611.3(OFD1):c.616_617del (p.Glu206fs)
|
|
|
NM_003611.3(OFD1):c.620_622dup (p.Ile207_Glu208insVal)
|
rs2146968142
|
|
NM_003611.3(OFD1):c.634C>G (p.Arg212Gly)
|
rs776834508
|
|
NM_003611.3(OFD1):c.651A>G (p.Gln217=)
|
|
|
NM_003611.3(OFD1):c.655-6T>A
|
|
|
NM_003611.3(OFD1):c.655-9A>C
|
rs758500578
|
|
NM_003611.3(OFD1):c.672T>G (p.Asp224Glu)
|
|
|
NM_003611.3(OFD1):c.675C>G (p.Thr225=)
|
rs781665189
|
|
NM_003611.3(OFD1):c.675C>T (p.Thr225=)
|
|
|
NM_003611.3(OFD1):c.678G>A (p.Glu226=)
|
|
|
NM_003611.3(OFD1):c.710del (p.Lys237fs)
|
rs312262845
|
|
NM_003611.3(OFD1):c.713A>G (p.Tyr238Cys)
|
|
|
NM_003611.3(OFD1):c.723G>A (p.Glu241=)
|
rs2146969853
|
|
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter)
|
rs1555902866
|
|
NM_003611.3(OFD1):c.762A>C (p.Gln254His)
|
|
|
NM_003611.3(OFD1):c.790G>C (p.Glu264Gln)
|
|
|
NM_003611.3(OFD1):c.794dup (p.Ser266fs)
|
rs2047318775
|
|
NM_003611.3(OFD1):c.800C>T (p.Thr267Ile)
|
|
|
NM_003611.3(OFD1):c.822C>G (p.His274Gln)
|
|
|
NM_003611.3(OFD1):c.829-16A>G
|
rs886658439
|
|
NM_003611.3(OFD1):c.843A>C (p.Glu281Asp)
|
|
|
NM_003611.3(OFD1):c.845T>C (p.Ile282Thr)
|
|
|
NM_003611.3(OFD1):c.877A>T (p.Met293Leu)
|
|
|
NM_003611.3(OFD1):c.877_878del (p.Met293fs)
|
rs312262858
|
|
NM_003611.3(OFD1):c.878T>C (p.Met293Thr)
|
|
|
NM_003611.3(OFD1):c.894A>C (p.Gly298=)
|
|
|
NM_003611.3(OFD1):c.903A>G (p.Ala301=)
|
|
|
NM_003611.3(OFD1):c.905_906del (p.Glu302fs)
|
rs2146984250
|
|
NM_003611.3(OFD1):c.909G>A (p.Leu303=)
|
rs2047424118
|
|
NM_003611.3(OFD1):c.915_916del (p.Arg306fs)
|
rs1569128307
|
|
NM_003611.3(OFD1):c.916A>G (p.Arg306Gly)
|
rs2047424420
|
|
NM_003611.3(OFD1):c.920T>G (p.Val307Gly)
|
|
|
NM_003611.3(OFD1):c.935+1G>C
|
|
|
NM_003611.3(OFD1):c.935+8A>T
|
|
|
NM_003611.3(OFD1):c.936-17A>G
|
rs2146992165
|
|
NM_003611.3(OFD1):c.954A>G (p.Glu318=)
|
rs2047489521
|
|
NM_003611.3(OFD1):c.956A>C (p.Glu319Ala)
|
|
|
NM_003611.3(OFD1):c.959A>C (p.Lys320Thr)
|
rs2146992341
|
|
NM_003611.3(OFD1):c.962A>G (p.His321Arg)
|
|
|
NM_003611.3(OFD1):c.967del (p.Ser323fs)
|
rs780268478
|
|
NM_003611.3(OFD1):c.971T>C (p.Ile324Thr)
|
|
|
NM_003611.3(OFD1):c.974C>T (p.Thr325Ile)
|
|
|
NM_003611.3(OFD1):c.975T>G (p.Thr325=)
|
rs2047490824
|
|
NM_003611.3(OFD1):c.975_976del (p.Glu326fs)
|
|
|