NM_003611.3(OFD1):c.714T>C (p.Tyr238=)
|
rs139848884
|
0.00637
|
NM_003611.3(OFD1):c.2929-18C>T
|
rs180940027
|
0.00601
|
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.1654+14T>A
|
rs192720874
|
0.00131
|
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly)
|
rs139406798
|
0.00049
|
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.1294A>G (p.Lys432Glu)
|
rs142352920
|
0.00024
|
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.2235C>T (p.Ser745=)
|
rs372503752
|
0.00015
|
NM_003611.3(OFD1):c.853C>G (p.Gln285Glu)
|
rs200760486
|
0.00012
|
NM_003611.3(OFD1):c.795G>A (p.Lys265=)
|
rs745443262
|
0.00011
|
NM_003611.3(OFD1):c.2928+18A>G
|
rs756838502
|
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.1620C>T (p.Ala540=)
|
rs142659184
|
0.00007
|
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln)
|
rs146930931
|
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.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.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.1622A>T (p.Asp541Val)
|
rs369907952
|
0.00004
|
NM_003611.3(OFD1):c.2523C>T (p.Gly841=)
|
rs757258869
|
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.2100G>A (p.Glu700=)
|
rs780655531
|
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.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.1542+13C>T
|
rs1253138718
|
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.2223A>G (p.Lys741=)
|
rs1355239331
|
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.655-13G>C
|
rs753706475
|
0.00002
|
NM_003611.3(OFD1):c.816C>T (p.His272=)
|
rs748363967
|
0.00002
|
NM_003611.3(OFD1):c.1317A>G (p.Leu439=)
|
rs907245341
|
0.00001
|
NM_003611.3(OFD1):c.1365A>G (p.Lys455=)
|
rs1395917057
|
0.00001
|
NM_003611.3(OFD1):c.1497G>A (p.Glu499=)
|
rs912035192
|
0.00001
|
NM_003611.3(OFD1):c.156A>T (p.Val52=)
|
rs779489279
|
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.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.198G>A (p.Gly66=)
|
rs776103115
|
0.00001
|
NM_003611.3(OFD1):c.2136C>T (p.Asp712=)
|
rs775705991
|
0.00001
|
NM_003611.3(OFD1):c.2148A>G (p.Ala716=)
|
rs1183295175
|
0.00001
|
NM_003611.3(OFD1):c.2505A>G (p.Pro835=)
|
rs759468353
|
0.00001
|
NM_003611.3(OFD1):c.255T>C (p.Cys85=)
|
rs766158020
|
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.345T>G (p.Ile115Met)
|
rs751918276
|
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.892G>A (p.Gly298Arg)
|
rs778349684
|
0.00001
|
NM_003611.3(OFD1):c.1007dup (p.Ser337fs)
|
rs749448671
|
|
NM_003611.3(OFD1):c.1055+10T>C
|
|
|
NM_003611.3(OFD1):c.1055+12G>A
|
|
|
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.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+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.1194A>G (p.Gln398=)
|
|
|
NM_003611.3(OFD1):c.1221+14A>T
|
rs2147016910
|
|
NM_003611.3(OFD1):c.1221+7_1221+8del
|
rs2147016859
|
|
NM_003611.3(OFD1):c.1222-15C>G
|
|
|
NM_003611.3(OFD1):c.1287A>G (p.Glu429=)
|
|
|
NM_003611.3(OFD1):c.1318C>T (p.Leu440=)
|
|
|
NM_003611.3(OFD1):c.1356A>G (p.Lys452=)
|
|
|
NM_003611.3(OFD1):c.1380G>A (p.Glu460=)
|
|
|
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.1416A>G (p.Leu472=)
|
|
|
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.1467C>T (p.Ala489=)
|
|
|
NM_003611.3(OFD1):c.1500C>T (p.Phe500=)
|
|
|
NM_003611.3(OFD1):c.1539C>T (p.Asp513=)
|
|
|
NM_003611.3(OFD1):c.1542+19C>T
|
rs2147033118
|
|
NM_003611.3(OFD1):c.1543-14C>T
|
rs2147036091
|
|
NM_003611.3(OFD1):c.1543-4T>G
|
rs2147036166
|
|
NM_003611.3(OFD1):c.1545T>C (p.Ile515=)
|
|
|
NM_003611.3(OFD1):c.1566G>A (p.Lys522=)
|
|
|
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.1698C>T (p.Ile566=)
|
rs1019902525
|
|
NM_003611.3(OFD1):c.1743C>T (p.Cys581=)
|
|
|
NM_003611.3(OFD1):c.1768T>C (p.Leu590=)
|
rs2147047726
|
|
NM_003611.3(OFD1):c.1794C>T (p.Asn598=)
|
|
|
NM_003611.3(OFD1):c.1800A>G (p.Leu600=)
|
|
|
NM_003611.3(OFD1):c.1968C>T (p.Val656=)
|
|
|
NM_003611.3(OFD1):c.1992A>T (p.Pro664=)
|
|
|
NM_003611.3(OFD1):c.1993C>T (p.Leu665=)
|
rs1742426055
|
|
NM_003611.3(OFD1):c.2043C>T (p.Asn681=)
|
|
|
NM_003611.3(OFD1):c.2061G>A (p.Pro687=)
|
rs757923355
|
|
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.2178C>T (p.Arg726=)
|
|
|
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.2238C>T (p.Leu746=)
|
|
|
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.2289C>G (p.Pro763=)
|
rs947500861
|
|
NM_003611.3(OFD1):c.229T>C (p.Leu77=)
|
|
|
NM_003611.3(OFD1):c.2328T>A (p.Thr776=)
|
|
|
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.2387+12G>A
|
|
|
NM_003611.3(OFD1):c.2387+16T>G
|
|
|
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.2499C>T (p.Asn833=)
|
rs2147066586
|
|
NM_003611.3(OFD1):c.2508G>A (p.Arg836=)
|
|
|
NM_003611.3(OFD1):c.2514G>A (p.Leu838=)
|
rs1443995525
|
|
NM_003611.3(OFD1):c.2586A>G (p.Ser862=)
|
|
|
NM_003611.3(OFD1):c.2595C>T (p.His865=)
|
|
|
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.2600-6_2600-3dup
|
|
|
NM_003611.3(OFD1):c.2600-7del
|
rs761400373
|
|
NM_003611.3(OFD1):c.2600-9T>A
|
|
|
NM_003611.3(OFD1):c.2619T>A (p.Ile873=)
|
rs797045847
|
|
NM_003611.3(OFD1):c.2631G>A (p.Lys877=)
|
rs797045848
|
|
NM_003611.3(OFD1):c.2647C>A (p.Arg883=)
|
rs149790559
|
|
NM_003611.3(OFD1):c.264A>G (p.Glu88=)
|
|
|
NM_003611.3(OFD1):c.2655G>A (p.Gln885=)
|
|
|
NM_003611.3(OFD1):c.2701C>T (p.Leu901=)
|
rs773811355
|
|
NM_003611.3(OFD1):c.270A>C (p.Ser90=)
|
|
|
NM_003611.3(OFD1):c.2721G>A (p.Arg907=)
|
|
|
NM_003611.3(OFD1):c.2725C>A (p.Arg909=)
|
|
|
NM_003611.3(OFD1):c.2758-4A>G
|
rs1555908820
|
|
NM_003611.3(OFD1):c.2778G>T (p.Leu926=)
|
|
|
NM_003611.3(OFD1):c.2784T>A (p.Ile928=)
|
rs2147086051
|
|
NM_003611.3(OFD1):c.2811A>G (p.Glu937=)
|
|
|
NM_003611.3(OFD1):c.2880A>G (p.Lys960=)
|
|
|
NM_003611.3(OFD1):c.288A>G (p.Pro96=)
|
rs2146913731
|
|
NM_003611.3(OFD1):c.2895C>T (p.Ile965=)
|
rs2147086446
|
|
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.2959C>T (p.Leu987=)
|
rs148543618
|
|
NM_003611.3(OFD1):c.2970G>T (p.Thr990=)
|
|
|
NM_003611.3(OFD1):c.2991C>G (p.Val997=)
|
rs373088434
|
|
NM_003611.3(OFD1):c.2996+16AC[2]
|
rs761270089
|
|
NM_003611.3(OFD1):c.2996+7G>C
|
|
|
NM_003611.3(OFD1):c.2997-13T>C
|
|
|
NM_003611.3(OFD1):c.3006C>G (p.Gly1002=)
|
|
|
NM_003611.3(OFD1):c.3009T>C (p.Phe1003=)
|
|
|
NM_003611.3(OFD1):c.3024A>C (p.Leu1008=)
|
|
|
NM_003611.3(OFD1):c.312+12C>G
|
|
|
NM_003611.3(OFD1):c.313-16C>A
|
|
|
NM_003611.3(OFD1):c.336A>G (p.Leu112=)
|
|
|
NM_003611.3(OFD1):c.360T>G (p.Thr120=)
|
|
|
NM_003611.3(OFD1):c.363C>A (p.Ser121=)
|
rs2146928280
|
|
NM_003611.3(OFD1):c.381+10C>G
|
|
|
NM_003611.3(OFD1):c.381+20G>A
|
|
|
NM_003611.3(OFD1):c.393T>G (p.Ser131=)
|
rs2146928832
|
|
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.485A>G (p.Gln162Arg)
|
|
|
NM_003611.3(OFD1):c.495G>T (p.Ser165=)
|
|
|
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.651A>G (p.Gln217=)
|
|
|
NM_003611.3(OFD1):c.655-9A>C
|
rs758500578
|
|
NM_003611.3(OFD1):c.678G>A (p.Glu226=)
|
|
|
NM_003611.3(OFD1):c.723G>A (p.Glu241=)
|
rs2146969853
|
|
NM_003611.3(OFD1):c.870A>G (p.Leu290=)
|
|
|
NM_003611.3(OFD1):c.894A>C (p.Gly298=)
|
|
|
NM_003611.3(OFD1):c.903A>G (p.Ala301=)
|
|
|
NM_003611.3(OFD1):c.909G>A (p.Leu303=)
|
rs2047424118
|
|
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.975T>G (p.Thr325=)
|
rs2047490824
|
|