NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val)
|
rs15251
|
0.21165
|
NM_001371623.1(TCOF1):c.2660T>C (p.Val887Ala)
|
rs7713638
|
0.18279
|
NM_001371623.1(TCOF1):c.1842A>G (p.Ser614=)
|
rs2071239
|
0.18176
|
NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=)
|
rs2071238
|
0.17747
|
NM_001371623.1(TCOF1):c.3530C>G (p.Pro1177Arg)
|
rs1136103
|
0.15799
|
NM_001371623.1(TCOF1):c.1761G>T (p.Gly587=)
|
rs7701163
|
0.09554
|
NM_001371623.1(TCOF1):c.3604-3C>T
|
rs11743855
|
0.08821
|
NM_001371623.1(TCOF1):c.2765C>T (p.Ser922Leu)
|
rs114689020
|
0.02268
|
NM_001371623.1(TCOF1):c.2094A>G (p.Glu698=)
|
rs34796297
|
0.02187
|
NM_001371623.1(TCOF1):c.4295G>C (p.Gly1432Ala)
|
rs45491898
|
0.01804
|
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu)
|
rs114326915
|
0.01242
|
NM_001371623.1(TCOF1):c.4053G>A (p.Ser1351=)
|
rs114169102
|
0.01206
|
NM_001371623.1(TCOF1):c.1133C>T (p.Ala378Val)
|
rs75181211
|
0.01172
|
NM_001371623.1(TCOF1):c.162A>G (p.Gln54=)
|
rs73270831
|
0.01015
|
NM_001371623.1(TCOF1):c.2245C>T (p.Pro749Ser)
|
rs73270846
|
0.00993
|
NM_001371623.1(TCOF1):c.4007A>G (p.Lys1336Arg)
|
rs55980697
|
0.00865
|
NM_001371623.1(TCOF1):c.4458G>A (p.Glu1486=)
|
rs116268092
|
0.00863
|
NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile)
|
rs75583421
|
0.00814
|
NM_001371623.1(TCOF1):c.3510C>T (p.His1170=)
|
rs116354094
|
0.00617
|
NM_001371623.1(TCOF1):c.579G>A (p.Ala193=)
|
rs142965998
|
0.00558
|
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu)
|
rs150515843
|
0.00548
|
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=)
|
rs113299143
|
0.00291
|
NM_001371623.1(TCOF1):c.1488+16G>A
|
rs115532058
|
0.00275
|
NM_001371623.1(TCOF1):c.3594G>A (p.Ala1198=)
|
rs148626720
|
0.00272
|
NM_001371623.1(TCOF1):c.109-13T>C
|
rs147327313
|
0.00267
|
NM_001371623.1(TCOF1):c.827G>A (p.Gly276Glu)
|
rs182776703
|
0.00265
|
NM_001371623.1(TCOF1):c.3047-20C>T
|
rs150694681
|
0.00264
|
NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr)
|
rs112332762
|
0.00260
|
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val)
|
rs56180593
|
0.00232
|
NM_001371623.1(TCOF1):c.3438T>G (p.Ser1146Arg)
|
rs200424706
|
0.00213
|
NM_001371623.1(TCOF1):c.3712G>A (p.Ala1238Thr)
|
rs137960641
|
0.00205
|
NM_001371623.1(TCOF1):c.3426C>T (p.Ser1142=)
|
rs138291748
|
0.00197
|
NM_001371623.1(TCOF1):c.4346-17T>A
|
rs76350524
|
0.00195
|
NM_001371623.1(TCOF1):c.1269G>A (p.Ala423=)
|
rs72492454
|
0.00193
|
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn)
|
rs144327167
|
0.00188
|
NM_001371623.1(TCOF1):c.2088T>G (p.Ser696Arg)
|
rs140334121
|
0.00149
|
NM_001371623.1(TCOF1):c.1671T>C (p.Asp557=)
|
rs142758482
|
0.00135
|
NM_001371623.1(TCOF1):c.2151T>A (p.Ser717=)
|
rs141764046
|
0.00135
|
NM_001371623.1(TCOF1):c.534C>T (p.Ser178=)
|
rs141250614
|
0.00132
|
NM_001371623.1(TCOF1):c.1300C>T (p.Pro434Ser)
|
rs143519179
|
0.00129
|
NM_001371623.1(TCOF1):c.1278+14G>A
|
rs375809363
|
0.00125
|
NM_001371623.1(TCOF1):c.378+16T>C
|
rs184898865
|
0.00125
|
NM_001371623.1(TCOF1):c.3623T>A (p.Met1208Lys)
|
rs139081024
|
0.00114
|
NM_001371623.1(TCOF1):c.3168G>A (p.Glu1056=)
|
rs78239421
|
0.00111
|
NM_001371623.1(TCOF1):c.999G>A (p.Gly333=)
|
rs55918703
|
0.00104
|
NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly)
|
rs150637771
|
0.00102
|
NM_001371623.1(TCOF1):c.3339G>A (p.Gln1113=)
|
rs147074393
|
0.00086
|
NM_001371623.1(TCOF1):c.1120G>T (p.Ala374Ser)
|
rs112039991
|
0.00079
|
NM_001371623.1(TCOF1):c.1723A>G (p.Ile575Val)
|
rs35918007
|
0.00074
|
NM_001371623.1(TCOF1):c.3604-14A>G
|
rs373075669
|
0.00073
|
NM_001371623.1(TCOF1):c.1535T>C (p.Met512Thr)
|
rs201458471
|
0.00072
|
NM_001371623.1(TCOF1):c.1590G>A (p.Gly530=)
|
rs145539529
|
0.00071
|
NM_001371623.1(TCOF1):c.3620A>G (p.Tyr1207Cys)
|
rs146226591
|
0.00069
|
NM_001371623.1(TCOF1):c.2188C>T (p.Pro730Ser)
|
rs150196623
|
0.00059
|
NM_001371623.1(TCOF1):c.1864G>A (p.Glu622Lys)
|
rs144872197
|
0.00057
|
NM_001371623.1(TCOF1):c.3538A>T (p.Thr1180Ser)
|
rs144793475
|
0.00053
|
NM_001371623.1(TCOF1):c.503C>T (p.Thr168Met)
|
rs181203524
|
0.00053
|
NM_001371623.1(TCOF1):c.1390G>A (p.Ala464Thr)
|
rs150956690
|
0.00051
|
NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg)
|
rs201537012
|
0.00049
|
NM_001371623.1(TCOF1):c.1502G>A (p.Gly501Glu)
|
rs201581867
|
0.00048
|
NM_001371623.1(TCOF1):c.4248C>T (p.Asp1416=)
|
rs141159244
|
0.00042
|
NM_001371623.1(TCOF1):c.2248A>G (p.Thr750Ala)
|
rs149384321
|
0.00039
|
NM_001371623.1(TCOF1):c.2842G>T (p.Ala948Ser)
|
rs181102251
|
0.00036
|
NM_001371623.1(TCOF1):c.4345+16T>C
|
rs200509548
|
0.00036
|
NM_001371623.1(TCOF1):c.1217G>A (p.Arg406Gln)
|
rs140204483
|
0.00034
|
NM_001371623.1(TCOF1):c.3241G>A (p.Ala1081Thr)
|
rs112144548
|
0.00033
|
NM_001371623.1(TCOF1):c.2000G>A (p.Arg667Gln)
|
rs146735293
|
0.00032
|
NM_001371623.1(TCOF1):c.4099A>C (p.Lys1367Gln)
|
rs201234047
|
0.00031
|
NM_001371623.1(TCOF1):c.2970G>A (p.Ser990=)
|
rs370130791
|
0.00029
|
NM_001371623.1(TCOF1):c.866G>A (p.Ser289Asn)
|
rs188279654
|
0.00029
|
NM_001371623.1(TCOF1):c.1547C>T (p.Pro516Leu)
|
rs138645438
|
0.00028
|
NM_001371623.1(TCOF1):c.1361C>T (p.Ala454Val)
|
rs375227693
|
0.00026
|
NM_001371623.1(TCOF1):c.2332C>T (p.Pro778Ser)
|
rs368225177
|
0.00026
|
NM_001371623.1(TCOF1):c.4418C>T (p.Pro1473Leu)
|
rs148367422
|
0.00026
|
NM_001371623.1(TCOF1):c.3191A>G (p.Lys1064Arg)
|
rs149117118
|
0.00025
|
NM_001371623.1(TCOF1):c.961G>A (p.Gly321Arg)
|
rs146307766
|
0.00024
|
NM_001371623.1(TCOF1):c.1130C>T (p.Pro377Leu)
|
rs189476787
|
0.00021
|
NM_001371623.1(TCOF1):c.484G>A (p.Glu162Lys)
|
rs145775767
|
0.00021
|
NM_001371623.1(TCOF1):c.2515G>A (p.Val839Ile)
|
rs140126499
|
0.00019
|
NM_001371623.1(TCOF1):c.326A>G (p.Asn109Ser)
|
rs142477153
|
0.00019
|
NM_001371623.1(TCOF1):c.1681C>G (p.Pro561Ala)
|
rs144197515
|
0.00018
|
NM_001371623.1(TCOF1):c.3493G>C (p.Gly1165Arg)
|
rs141095369
|
0.00018
|
NM_001371623.1(TCOF1):c.2766G>A (p.Ser922=)
|
rs369562565
|
0.00016
|
NM_001371623.1(TCOF1):c.3349G>A (p.Val1117Ile)
|
rs757151167
|
0.00016
|
NM_001371623.1(TCOF1):c.911C>T (p.Ser304Leu)
|
rs144193760
|
0.00015
|
NM_001371623.1(TCOF1):c.1845G>A (p.Ser615=)
|
rs200075508
|
0.00014
|
NM_001371623.1(TCOF1):c.188G>A (p.Arg63Gln)
|
rs371609378
|
0.00014
|
NM_001371623.1(TCOF1):c.230G>A (p.Arg77His)
|
rs145365677
|
0.00014
|
NM_001371623.1(TCOF1):c.2672G>A (p.Gly891Glu)
|
rs376431510
|
0.00014
|
NM_001371623.1(TCOF1):c.3029C>T (p.Thr1010Ile)
|
rs538401137
|
0.00014
|
NM_001371623.1(TCOF1):c.3335C>T (p.Pro1112Leu)
|
rs140440910
|
0.00014
|
NM_001371623.1(TCOF1):c.3945A>C (p.Ser1315=)
|
rs146509895
|
0.00014
|
NM_001371623.1(TCOF1):c.4079C>T (p.Pro1360Leu)
|
rs541861585
|
0.00014
|
NM_001371623.1(TCOF1):c.600C>T (p.Ser200=)
|
rs73270841
|
0.00014
|
NM_001371623.1(TCOF1):c.4284G>T (p.Thr1428=)
|
rs148889187
|
0.00013
|
NM_001371623.1(TCOF1):c.1545G>T (p.Gly515=)
|
rs374664344
|
0.00012
|
NM_001371623.1(TCOF1):c.289G>A (p.Glu97Lys)
|
rs200561413
|
0.00012
|
NM_001371623.1(TCOF1):c.1322C>T (p.Ala441Val)
|
rs540402926
|
0.00011
|
NM_001371623.1(TCOF1):c.1789G>A (p.Val597Ile)
|
rs147742838
|
0.00011
|
NM_001371623.1(TCOF1):c.3537G>A (p.Arg1179=)
|
rs200202637
|
0.00010
|
NM_001371623.1(TCOF1):c.3605C>T (p.Ser1202Phe)
|
rs112227999
|
0.00010
|
NM_001371623.1(TCOF1):c.1299C>A (p.Ala433=)
|
rs200762971
|
0.00009
|
NM_001371623.1(TCOF1):c.1714T>C (p.Leu572=)
|
rs111705180
|
0.00009
|
NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val)
|
rs373129508
|
0.00009
|
NM_001371623.1(TCOF1):c.4388A>G (p.Lys1463Arg)
|
rs200645401
|
0.00008
|
NM_001371623.1(TCOF1):c.3298-7G>A
|
rs371596319
|
0.00007
|
NM_001371623.1(TCOF1):c.1083+12G>A
|
rs571858502
|
0.00006
|
NM_001371623.1(TCOF1):c.2205G>C (p.Leu735Phe)
|
rs200577796
|
0.00006
|
NM_001371623.1(TCOF1):c.3046+20A>G
|
rs377243152
|
0.00006
|
NM_001371623.1(TCOF1):c.639+9C>T
|
rs368113675
|
0.00006
|
NM_001371623.1(TCOF1):c.766G>A (p.Ala256Thr)
|
rs753898877
|
0.00006
|
NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu)
|
rs756584594
|
0.00005
|
NM_001371623.1(TCOF1):c.1961C>T (p.Ala654Val)
|
rs201843484
|
0.00005
|
NM_001371623.1(TCOF1):c.2817A>T (p.Ser939=)
|
rs772987244
|
0.00005
|
NM_001371623.1(TCOF1):c.3562G>A (p.Ala1188Thr)
|
rs371535526
|
0.00005
|
NM_001371623.1(TCOF1):c.3628C>T (p.Pro1210Ser)
|
rs558530968
|
0.00005
|
NM_001371623.1(TCOF1):c.3827G>A (p.Arg1276Gln)
|
rs776562128
|
0.00005
|
NM_001371623.1(TCOF1):c.525G>A (p.Glu175=)
|
rs755679110
|
0.00005
|
NM_001371623.1(TCOF1):c.539C>T (p.Pro180Leu)
|
rs779174758
|
0.00005
|
NM_001371623.1(TCOF1):c.630A>G (p.Thr210=)
|
rs765654624
|
0.00005
|
NM_001371623.1(TCOF1):c.633C>T (p.Asp211=)
|
rs750978663
|
0.00005
|
NM_001371623.1(TCOF1):c.651A>G (p.Ser217=)
|
rs370179351
|
0.00005
|
NM_001371623.1(TCOF1):c.676T>C (p.Ser226Pro)
|
rs201919311
|
0.00005
|
NM_001371623.1(TCOF1):c.187C>T (p.Arg63Trp)
|
rs367964727
|
0.00004
|
NM_001371623.1(TCOF1):c.2575C>G (p.Gln859Glu)
|
rs201043592
|
0.00004
|
NM_001371623.1(TCOF1):c.2614G>A (p.Glu872Lys)
|
rs746560886
|
0.00004
|
NM_001371623.1(TCOF1):c.3603+10A>C
|
rs976170759
|
0.00004
|
NM_001371623.1(TCOF1):c.4155G>A (p.Thr1385=)
|
rs373820740
|
0.00004
|
NM_001371623.1(TCOF1):c.737G>A (p.Gly246Glu)
|
rs752816706
|
0.00004
|
NM_001371623.1(TCOF1):c.1242C>T (p.Ser414=)
|
rs151344569
|
0.00003
|
NM_001371623.1(TCOF1):c.1629G>C (p.Glu543Asp)
|
rs138254692
|
0.00003
|
NM_001371623.1(TCOF1):c.2718C>G (p.Ser906=)
|
rs778410229
|
0.00003
|
NM_001371623.1(TCOF1):c.1059G>A (p.Thr353=)
|
rs764909247
|
0.00002
|
NM_001371623.1(TCOF1):c.1379G>T (p.Gly460Val)
|
rs369804013
|
0.00002
|
NM_001371623.1(TCOF1):c.1563C>T (p.Ala521=)
|
rs755295207
|
0.00002
|
NM_001371623.1(TCOF1):c.1651G>A (p.Glu551Lys)
|
rs768127692
|
0.00002
|
NM_001371623.1(TCOF1):c.1780C>T (p.Pro594Ser)
|
rs769250780
|
0.00002
|
NM_001371623.1(TCOF1):c.1973C>G (p.Pro658Arg)
|
rs200287975
|
0.00002
|
NM_001371623.1(TCOF1):c.2093A>T (p.Glu698Val)
|
rs760265000
|
0.00002
|
NM_001371623.1(TCOF1):c.2648C>T (p.Thr883Met)
|
rs763108083
|
0.00002
|
NM_001371623.1(TCOF1):c.2905G>A (p.Ala969Thr)
|
rs187522917
|
0.00002
|
NM_001371623.1(TCOF1):c.3053G>T (p.Arg1018Ile)
|
rs532465195
|
0.00002
|
NM_001371623.1(TCOF1):c.3882C>T (p.Ser1294=)
|
rs1470939619
|
0.00002
|
NM_001371623.1(TCOF1):c.4023G>A (p.Lys1341=)
|
rs199890846
|
0.00002
|
NM_001371623.1(TCOF1):c.457T>C (p.Ser153Pro)
|
rs1161730410
|
0.00002
|
NM_001371623.1(TCOF1):c.1166C>T (p.Ala389Val)
|
rs773945106
|
0.00001
|
NM_001371623.1(TCOF1):c.1308C>G (p.Val436=)
|
rs1168279343
|
0.00001
|
NM_001371623.1(TCOF1):c.164+17A>G
|
rs370398714
|
0.00001
|
NM_001371623.1(TCOF1):c.1708A>G (p.Lys570Glu)
|
rs762339373
|
0.00001
|
NM_001371623.1(TCOF1):c.1867G>A (p.Ala623Thr)
|
rs201126288
|
0.00001
|
NM_001371623.1(TCOF1):c.1968C>T (p.Val656=)
|
rs377242921
|
0.00001
|
NM_001371623.1(TCOF1):c.2039C>T (p.Pro680Leu)
|
rs372088099
|
0.00001
|
NM_001371623.1(TCOF1):c.216A>G (p.Gln72=)
|
rs777649173
|
0.00001
|
NM_001371623.1(TCOF1):c.2458A>G (p.Lys820Glu)
|
rs773887777
|
0.00001
|
NM_001371623.1(TCOF1):c.2490A>G (p.Pro830=)
|
rs1286333047
|
0.00001
|
NM_001371623.1(TCOF1):c.252C>T (p.Thr84=)
|
rs772865214
|
0.00001
|
NM_001371623.1(TCOF1):c.2618A>T (p.Glu873Val)
|
rs1169974134
|
0.00001
|
NM_001371623.1(TCOF1):c.3009T>C (p.Asp1003=)
|
rs772751108
|
0.00001
|
NM_001371623.1(TCOF1):c.3016G>A (p.Val1006Met)
|
rs368011460
|
0.00001
|
NM_001371623.1(TCOF1):c.309A>C (p.Pro103=)
|
rs1209030910
|
0.00001
|
NM_001371623.1(TCOF1):c.3337_3338insCTCT (p.Gln1113fs)
|
rs1429628044
|
0.00001
|
NM_001371623.1(TCOF1):c.3517+12del
|
rs768447525
|
0.00001
|
NM_001371623.1(TCOF1):c.3593C>T (p.Ala1198Val)
|
rs754773014
|
0.00001
|
NM_001371623.1(TCOF1):c.378+3G>A
|
rs779373224
|
0.00001
|
NM_001371623.1(TCOF1):c.3784+8A>G
|
rs151344578
|
0.00001
|
NM_001371623.1(TCOF1):c.3857A>G (p.Gln1286Arg)
|
rs762322529
|
0.00001
|
NM_001371623.1(TCOF1):c.3886A>G (p.Ile1296Val)
|
rs1297478685
|
0.00001
|
NM_001371623.1(TCOF1):c.4444-19C>T
|
rs764715009
|
0.00001
|
NM_001371623.1(TCOF1):c.449A>G (p.Asn150Ser)
|
rs141805606
|
0.00001
|
NM_001371623.1(TCOF1):c.724C>T (p.Pro242Ser)
|
rs766981672
|
0.00001
|
NM_001371623.1(TCOF1):c.735G>C (p.Val245=)
|
rs767978317
|
0.00001
|
NM_001371623.1(TCOF1):c.871-17C>G
|
rs748999144
|
0.00001
|
NM_001371623.1(TCOF1):c.951A>C (p.Pro317=)
|
rs755951077
|
0.00001
|
NC_000005.10:g.(?_150387882)_(150399068_?)del
|
|
|
NC_000005.10:g.(?_150396282)_(150399070_?)del
|
|
|
NC_000005.10:g.(?_150399002)_(150399068_?)del
|
|
|
NC_000005.10:g.150374956_150374973del
|
|
|
NC_000005.9:g.(?_149737310)_(149743835_?)del
|
|
|
NC_000005.9:g.(?_149775825)_(149778631_?)del
|
|
|
NC_000005.9:g.(?_149776191)_(149778631_?)del
|
|
|
NM_001371623.1(TCOF1):c.1021_1022del (p.Ser341fs)
|
rs1763212034
|
|
NM_001371623.1(TCOF1):c.1029_1046del (p.Ser346_Glu351del)
|
rs1763213917
|
|
NM_001371623.1(TCOF1):c.1038A>G (p.Ser346=)
|
|
|
NM_001371623.1(TCOF1):c.1073C>A (p.Ala358Asp)
|
|
|
NM_001371623.1(TCOF1):c.108+11G>T
|
|
|
NM_001371623.1(TCOF1):c.1084-18C>G
|
|
|
NM_001371623.1(TCOF1):c.1084-19_1084-18del
|
|
|
NM_001371623.1(TCOF1):c.108G>A (p.Gln36=)
|
|
|
NM_001371623.1(TCOF1):c.109-1del
|
rs2150398890
|
|
NM_001371623.1(TCOF1):c.109-3del
|
rs2150398853
|
|
NM_001371623.1(TCOF1):c.109-8C>G
|
|
|
NM_001371623.1(TCOF1):c.1108C>G (p.Gln370Glu)
|
|
|
NM_001371623.1(TCOF1):c.1113C>G (p.Val371=)
|
|
|
NM_001371623.1(TCOF1):c.1114G>A (p.Gly372Arg)
|
|
|
NM_001371623.1(TCOF1):c.1114G>C (p.Gly372Arg)
|
rs759026634
|
|
NM_001371623.1(TCOF1):c.1122C>T (p.Ala374=)
|
|
|
NM_001371623.1(TCOF1):c.1128C>A (p.Ala376=)
|
rs149825269
|
|
NM_001371623.1(TCOF1):c.1173del (p.Lys393fs)
|
rs2150695587
|
|
NM_001371623.1(TCOF1):c.117C>A (p.Phe39Leu)
|
rs1759991869
|
|
NM_001371623.1(TCOF1):c.1188T>C (p.Pro396=)
|
|
|
NM_001371623.1(TCOF1):c.1208C>T (p.Ala403Val)
|
rs773162787
|
|
NM_001371623.1(TCOF1):c.1216C>T (p.Arg406Trp)
|
|
|
NM_001371623.1(TCOF1):c.1248A>G (p.Glu416=)
|
rs1359960095
|
|
NM_001371623.1(TCOF1):c.1250C>T (p.Ser417Leu)
|
|
|
NM_001371623.1(TCOF1):c.1278+10_1278+11del
|
|
|
NM_001371623.1(TCOF1):c.1278+1G>A
|
rs886041506
|
|
NM_001371623.1(TCOF1):c.1279-10C>T
|
|
|
NM_001371623.1(TCOF1):c.1298C>T (p.Ala433Val)
|
|
|
NM_001371623.1(TCOF1):c.129C>G (p.Pro43=)
|
|
|
NM_001371623.1(TCOF1):c.1303del (p.Gln435fs)
|
|
|
NM_001371623.1(TCOF1):c.130G>A (p.Val44Ile)
|
|
|
NM_001371623.1(TCOF1):c.1314C>T (p.Ala438=)
|
|
|
NM_001371623.1(TCOF1):c.1320G>A (p.Ser440=)
|
|
|
NM_001371623.1(TCOF1):c.1328_1350del (p.Ala443fs)
|
rs2150704850
|
|
NM_001371623.1(TCOF1):c.134C>T (p.Thr45Ile)
|
rs1188694708
|
|
NM_001371623.1(TCOF1):c.1358dup (p.Ala454fs)
|
rs1554136123
|
|
NM_001371623.1(TCOF1):c.1363C>T (p.Pro455Ser)
|
|
|
NM_001371623.1(TCOF1):c.1377_1378del (p.Gly460fs)
|
rs1562347303
|
|
NM_001371623.1(TCOF1):c.1389del (p.Ala464fs)
|
rs1763437825
|
|
NM_001371623.1(TCOF1):c.1413GGA[2] (p.Glu473del)
|
rs776561920
|
|
NM_001371623.1(TCOF1):c.1419G>C (p.Glu473Asp)
|
rs2150707423
|
|
NM_001371623.1(TCOF1):c.1425_1426del (p.Arg476fs)
|
rs2150707502
|
|
NM_001371623.1(TCOF1):c.1448_1451del (p.Asp483fs)
|
rs1064794474
|
|
NM_001371623.1(TCOF1):c.1464A>G (p.Ala488=)
|
|
|
NM_001371623.1(TCOF1):c.1488+17C>T
|
|
|
NM_001371623.1(TCOF1):c.1488+3G>A
|
|
|
NM_001371623.1(TCOF1):c.1489-17T>C
|
|
|
NM_001371623.1(TCOF1):c.1489-9G>A
|
rs1424848326
|
|
NM_001371623.1(TCOF1):c.1504_1505insT (p.Lys502fs)
|
rs2150713720
|
|
NM_001371623.1(TCOF1):c.1516G>C (p.Val506Leu)
|
rs769055076
|
|
NM_001371623.1(TCOF1):c.1522C>T (p.Pro508Ser)
|
rs1340850886
|
|
NM_001371623.1(TCOF1):c.1538G>A (p.Gly513Asp)
|
|
|
NM_001371623.1(TCOF1):c.1538G>T (p.Gly513Val)
|
|
|
NM_001371623.1(TCOF1):c.1560dup (p.Ala521fs)
|
rs1581114957
|
|
NM_001371623.1(TCOF1):c.1569A>G (p.Pro523=)
|
|
|
NM_001371623.1(TCOF1):c.1578del (p.Lys528fs)
|
rs2150715791
|
|
NM_001371623.1(TCOF1):c.1597A>G (p.Thr533Ala)
|
|
|
NM_001371623.1(TCOF1):c.1605A>T (p.Ser535=)
|
|
|
NM_001371623.1(TCOF1):c.1614G>A (p.Val538=)
|
|
|
NM_001371623.1(TCOF1):c.161A>C (p.Gln54Pro)
|
rs2150399443
|
|
NM_001371623.1(TCOF1):c.1622G>A (p.Trp541Ter)
|
rs2150716827
|
|
NM_001371623.1(TCOF1):c.1623GGA[2] (p.Glu543del)
|
rs1159384975
|
|
NM_001371623.1(TCOF1):c.1629G>A (p.Glu543=)
|
|
|
NM_001371623.1(TCOF1):c.1636G>A (p.Glu546Lys)
|
|
|
NM_001371623.1(TCOF1):c.1637_1640del (p.Glu546fs)
|
rs587776583
|
|
NM_001371623.1(TCOF1):c.1639_1640del (p.Ser547fs)
|
rs587776583
|
|
NM_001371623.1(TCOF1):c.163C>T (p.Gln55Ter)
|
rs2150399547
|
|
NM_001371623.1(TCOF1):c.1646del (p.Ser549fs)
|
|
|
NM_001371623.1(TCOF1):c.165-19A>G
|
|
|
NM_001371623.1(TCOF1):c.1653G>A (p.Glu551=)
|
|
|
NM_001371623.1(TCOF1):c.1659dup (p.Asp554fs)
|
rs1763559019
|
|
NM_001371623.1(TCOF1):c.1668T>C (p.Ser556=)
|
rs111582424
|
|
NM_001371623.1(TCOF1):c.1704+16G>A
|
|
|
NM_001371623.1(TCOF1):c.1704+9C>T
|
|
|
NM_001371623.1(TCOF1):c.1705-4C>T
|
|
|
NM_001371623.1(TCOF1):c.1741A>C (p.Thr581Pro)
|
|
|
NM_001371623.1(TCOF1):c.1748G>A (p.Ser583Asn)
|
|
|
NM_001371623.1(TCOF1):c.1804G>A (p.Glu602Lys)
|
rs1763649950
|
|
NM_001371623.1(TCOF1):c.181C>T (p.Arg61Trp)
|
|
|
NM_001371623.1(TCOF1):c.1823C>T (p.Ser608Leu)
|
|
|
NM_001371623.1(TCOF1):c.1824_1825delinsTT (p.Glu609Ter)
|
rs2150726644
|
|
NM_001371623.1(TCOF1):c.1830C>T (p.Ser610=)
|
rs2150726683
|
|
NM_001371623.1(TCOF1):c.1844C>T (p.Ser615Leu)
|
|
|
NM_001371623.1(TCOF1):c.1844CGGACAGTG[3] (p.Ser620_Glu621insAlaAspSer)
|
|
|
NM_001371623.1(TCOF1):c.1893+8C>T
|
|
|
NM_001371623.1(TCOF1):c.1894-15T>C
|
|
|
NM_001371623.1(TCOF1):c.1931G>A (p.Cys644Tyr)
|
|
|
NM_001371623.1(TCOF1):c.1955C>T (p.Ala652Val)
|
|
|
NM_001371623.1(TCOF1):c.1990C>T (p.Gln664Ter)
|
rs896979080
|
|
NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro)
|
rs2071240
|
|
NM_001371623.1(TCOF1):c.1993G>T (p.Ala665Ser)
|
rs2071240
|
|
NM_001371623.1(TCOF1):c.1997C>A (p.Pro666His)
|
|
|
NM_001371623.1(TCOF1):c.1999C>T (p.Arg667Trp)
|
|
|
NM_001371623.1(TCOF1):c.1999dup (p.Arg667fs)
|
rs2150734334
|
|
NM_001371623.1(TCOF1):c.1A>T (p.Met1Leu)
|
|
|
NM_001371623.1(TCOF1):c.2000G>C (p.Arg667Pro)
|
rs146735293
|
|
NM_001371623.1(TCOF1):c.2014G>T (p.Ala672Ser)
|
rs1487072659
|
|
NM_001371623.1(TCOF1):c.2016G>A (p.Ala672=)
|
|
|
NM_001371623.1(TCOF1):c.2018C>A (p.Thr673Asn)
|
|
|
NM_001371623.1(TCOF1):c.2039del (p.Pro680fs)
|
|
|
NM_001371623.1(TCOF1):c.2072_2073del (p.Glu691fs)
|
|
|
NM_001371623.1(TCOF1):c.2103_2106del (p.Ser701fs)
|
rs2150736647
|
|
NM_001371623.1(TCOF1):c.2133C>T (p.Thr711=)
|
|
|
NM_001371623.1(TCOF1):c.2142+19G>C
|
|
|
NM_001371623.1(TCOF1):c.2142+2T>C
|
|
|
NM_001371623.1(TCOF1):c.2146_2147del (p.Lys716fs)
|
rs1554137419
|
|
NM_001371623.1(TCOF1):c.2187G>A (p.Val729=)
|
|
|
NM_001371623.1(TCOF1):c.2187G>T (p.Val729=)
|
|
|
NM_001371623.1(TCOF1):c.2249C>T (p.Thr750Ile)
|
|
|
NM_001371623.1(TCOF1):c.2258A>G (p.Gln753Arg)
|
|
|
NM_001371623.1(TCOF1):c.2285_2286del (p.Asp761_Ser762insTer)
|
rs1554137531
|
|
NM_001371623.1(TCOF1):c.229C>T (p.Arg77Cys)
|
|
|
NM_001371623.1(TCOF1):c.2313_2316del (p.Ser771fs)
|
|
|
NM_001371623.1(TCOF1):c.2314G>A (p.Glu772Lys)
|
|
|
NM_001371623.1(TCOF1):c.2340+11G>A
|
|
|
NM_001371623.1(TCOF1):c.2347dup (p.Thr783fs)
|
|
|
NM_001371623.1(TCOF1):c.2348C>A (p.Thr783Asn)
|
|
|
NM_001371623.1(TCOF1):c.2353G>A (p.Val785Ile)
|
|
|
NM_001371623.1(TCOF1):c.2353del (p.Ser784_Val785insTer)
|
rs1581136492
|
|
NM_001371623.1(TCOF1):c.2361A>C (p.Lys787Asn)
|
rs1764401679
|
|
NM_001371623.1(TCOF1):c.2384del (p.Ala795fs)
|
rs1764409337
|
|
NM_001371623.1(TCOF1):c.2389G>A (p.Ala797Thr)
|
|
|
NM_001371623.1(TCOF1):c.2395G>T (p.Ala799Ser)
|
rs373946807
|
|
NM_001371623.1(TCOF1):c.2416A>C (p.Ile806Leu)
|
|
|
NM_001371623.1(TCOF1):c.2478+5G>T
|
|
|
NM_001371623.1(TCOF1):c.2479-20A>G
|
|
|
NM_001371623.1(TCOF1):c.2489C>G (p.Pro830Arg)
|
|
|
NM_001371623.1(TCOF1):c.2539G>T (p.Val847Leu)
|
|
|
NM_001371623.1(TCOF1):c.2553del (p.Lys852fs)
|
|
|
NM_001371623.1(TCOF1):c.255G>A (p.Ser85=)
|
|
|
NM_001371623.1(TCOF1):c.2560G>A (p.Val854Met)
|
|
|
NM_001371623.1(TCOF1):c.2588G>A (p.Gly863Glu)
|
|
|
NM_001371623.1(TCOF1):c.25G>T (p.Glu9Ter)
|
rs1758946466
|
|
NM_001371623.1(TCOF1):c.2623_2640del (p.Ser875_Glu880del)
|
|
|
NM_001371623.1(TCOF1):c.2630G>A (p.Ser877Asn)
|
|
|
NM_001371623.1(TCOF1):c.2633AGG[2] (p.Glu880del)
|
rs749229511
|
|
NM_001371623.1(TCOF1):c.264G>A (p.Ser88=)
|
rs760564202
|
|
NM_001371623.1(TCOF1):c.2658+13G>T
|
|
|
NM_001371623.1(TCOF1):c.2658+14A>T
|
|
|
NM_001371623.1(TCOF1):c.2659-18_2659-8del
|
rs1581140872
|
|
NM_001371623.1(TCOF1):c.2676G>A (p.Lys892=)
|
|
|
NM_001371623.1(TCOF1):c.2689A>T (p.Arg897Ter)
|
|
|
NM_001371623.1(TCOF1):c.2709del (p.Lys904fs)
|
rs2150816107
|
|
NM_001371623.1(TCOF1):c.2781G>A (p.Gly927=)
|
|
|
NM_001371623.1(TCOF1):c.2795C>G (p.Ser932Ter)
|
rs1554138811
|
|
NM_001371623.1(TCOF1):c.2796_2797del (p.Gly933fs)
|
rs1554138819
|
|
NM_001371623.1(TCOF1):c.2798G>A (p.Gly933Glu)
|
|
|
NM_001371623.1(TCOF1):c.2807G>A (p.Ser936Asn)
|
|
|
NM_001371623.1(TCOF1):c.2808C>T (p.Ser936=)
|
|
|
NM_001371623.1(TCOF1):c.2809G>A (p.Glu937Lys)
|
|
|
NM_001371623.1(TCOF1):c.2819_2822del (p.Asp940fs)
|
rs2150820128
|
|
NM_001371623.1(TCOF1):c.2830dup (p.Glu944fs)
|
|
|
NM_001371623.1(TCOF1):c.2838G>A (p.Pro946=)
|
|
|
NM_001371623.1(TCOF1):c.2862G>A (p.Val954=)
|
|
|
NM_001371623.1(TCOF1):c.288C>T (p.Ala96=)
|
|
|
NM_001371623.1(TCOF1):c.2897G>A (p.Arg966His)
|
|
|
NM_001371623.1(TCOF1):c.2910C>A (p.Gly970=)
|
|
|
NM_001371623.1(TCOF1):c.2935C>T (p.Gln979Ter)
|
|
|
NM_001371623.1(TCOF1):c.293C>T (p.Thr98Ile)
|
|
|
NM_001371623.1(TCOF1):c.294C>T (p.Thr98=)
|
|
|
NM_001371623.1(TCOF1):c.2962C>T (p.Arg988Ter)
|
rs119470017
|
|
NM_001371623.1(TCOF1):c.3003C>G (p.Ser1001Arg)
|
|
|
NM_001371623.1(TCOF1):c.3003C>T (p.Ser1001=)
|
|
|
NM_001371623.1(TCOF1):c.304+1del
|
|
|
NM_001371623.1(TCOF1):c.3043C>A (p.Pro1015Thr)
|
|
|
NM_001371623.1(TCOF1):c.3046+17T>C
|
|
|
NM_001371623.1(TCOF1):c.3046+7G>A
|
|
|
NM_001371623.1(TCOF1):c.305-15_305-14del
|
rs751737569
|
|
NM_001371623.1(TCOF1):c.305-4G>C
|
|
|
NM_001371623.1(TCOF1):c.307C>G (p.Pro103Ala)
|
|
|
NM_001371623.1(TCOF1):c.3084C>T (p.His1028=)
|
rs2151010757
|
|
NM_001371623.1(TCOF1):c.3085C>T (p.Pro1029Ser)
|
|
|
NM_001371623.1(TCOF1):c.3091del (p.Arg1030_Ile1031insTer)
|
rs1767064064
|
|
NM_001371623.1(TCOF1):c.3133dup (p.Glu1045fs)
|
rs1554078461
|
|
NM_001371623.1(TCOF1):c.3183+18G>A
|
|
|
NM_001371623.1(TCOF1):c.3184-19T>C
|
|
|
NM_001371623.1(TCOF1):c.3215T>A (p.Leu1072Gln)
|
rs2151031405
|
|
NM_001371623.1(TCOF1):c.3253A>G (p.Ser1085Gly)
|
rs2151031928
|
|
NM_001371623.1(TCOF1):c.3282C>G (p.Thr1094=)
|
|
|
NM_001371623.1(TCOF1):c.3297+10G>A
|
|
|
NM_001371623.1(TCOF1):c.3298-8C>T
|
|
|
NM_001371623.1(TCOF1):c.3301G>A (p.Asp1101Asn)
|
rs1193457959
|
|
NM_001371623.1(TCOF1):c.3366C>G (p.Thr1122=)
|
|
|
NM_001371623.1(TCOF1):c.3368A>G (p.Asn1123Ser)
|
rs2151037169
|
|
NM_001371623.1(TCOF1):c.3397G>A (p.Val1133Ile)
|
|
|
NM_001371623.1(TCOF1):c.3450C>T (p.Ser1150=)
|
|
|
NM_001371623.1(TCOF1):c.3451G>A (p.Asp1151Asn)
|
|
|
NM_001371623.1(TCOF1):c.345G>A (p.Ala115=)
|
|
|
NM_001371623.1(TCOF1):c.347A>T (p.Asp116Val)
|
|
|
NM_001371623.1(TCOF1):c.3490C>T (p.Gln1164Ter)
|
|
|
NM_001371623.1(TCOF1):c.3496dup (p.Ala1166fs)
|
rs35868965
|
|
NM_001371623.1(TCOF1):c.3505G>T (p.Ala1169Ser)
|
|
|
NM_001371623.1(TCOF1):c.3517+20G>A
|
|
|
NM_001371623.1(TCOF1):c.3518-4C>G
|
rs2151048297
|
|
NM_001371623.1(TCOF1):c.3525C>T (p.Pro1175=)
|
rs2151048544
|
|
NM_001371623.1(TCOF1):c.3530C>A (p.Pro1177His)
|
|
|
NM_001371623.1(TCOF1):c.3530_3531delinsGT (p.Pro1177Arg)
|
|
|
NM_001371623.1(TCOF1):c.3531C>G (p.Pro1177=)
|
|
|
NM_001371623.1(TCOF1):c.3531C>T (p.Pro1177=)
|
rs149395927
|
|
NM_001371623.1(TCOF1):c.3546C>T (p.Thr1182=)
|
|
|
NM_001371623.1(TCOF1):c.3587TGG[1] (p.Val1197del)
|
rs748108935
|
|
NM_001371623.1(TCOF1):c.3604-13T>C
|
|
|
NM_001371623.1(TCOF1):c.3608_3609del (p.Leu1203fs)
|
|
|
NM_001371623.1(TCOF1):c.3614C>T (p.Ser1205Leu)
|
|
|
NM_001371623.1(TCOF1):c.3625del (p.Thr1209fs)
|
rs1581210464
|
|
NM_001371623.1(TCOF1):c.3654G>A (p.Gln1218=)
|
|
|
NM_001371623.1(TCOF1):c.3658T>C (p.Ser1220Pro)
|
|
|
NM_001371623.1(TCOF1):c.3674dup (p.Leu1226fs)
|
|
|
NM_001371623.1(TCOF1):c.3689C>T (p.Pro1230Leu)
|
rs768747268
|
|
NM_001371623.1(TCOF1):c.3698_3702del (p.Ser1233fs)
|
rs2151060146
|
|
NM_001371623.1(TCOF1):c.3750C>T (p.Pro1250=)
|
rs1171799911
|
|
NM_001371623.1(TCOF1):c.378+1G>A
|
rs1581064385
|
|
NM_001371623.1(TCOF1):c.3784+1G>C
|
rs1767850450
|
|
NM_001371623.1(TCOF1):c.3785-14T>G
|
|
|
NM_001371623.1(TCOF1):c.3791_3792del (p.Lys1264fs)
|
rs1581223107
|
|
NM_001371623.1(TCOF1):c.3856del (p.Gln1286fs)
|
|
|
NM_001371623.1(TCOF1):c.3858A>G (p.Gln1286=)
|
|
|
NM_001371623.1(TCOF1):c.3872C>T (p.Ala1291Val)
|
|
|
NM_001371623.1(TCOF1):c.3873G>T (p.Ala1291=)
|
rs375500651
|
|
NM_001371623.1(TCOF1):c.3880A>C (p.Ser1294Arg)
|
|
|
NM_001371623.1(TCOF1):c.3888C>T (p.Ile1296=)
|
|
|
NM_001371623.1(TCOF1):c.3889dup (p.Thr1297fs)
|
|
|
NM_001371623.1(TCOF1):c.390_391del (p.Lys131fs)
|
|
|
NM_001371623.1(TCOF1):c.3912del (p.Trp1305fs)
|
|
|
NM_001371623.1(TCOF1):c.3914G>T (p.Trp1305Leu)
|
|
|
NM_001371623.1(TCOF1):c.3918_3942del (p.Leu1307fs)
|
|
|
NM_001371623.1(TCOF1):c.3951G>A (p.Val1317=)
|
|
|
NM_001371623.1(TCOF1):c.3979G>A (p.Glu1327Lys)
|
|
|
NM_001371623.1(TCOF1):c.3991G>A (p.Val1331Met)
|
|
|
NM_001371623.1(TCOF1):c.4021A>C (p.Lys1341Gln)
|
|
|
NM_001371623.1(TCOF1):c.4029G>A (p.Trp1343Ter)
|
|
|
NM_001371623.1(TCOF1):c.4036C>T (p.Arg1346Cys)
|
|
|
NM_001371623.1(TCOF1):c.4040A>G (p.Lys1347Arg)
|
|
|
NM_001371623.1(TCOF1):c.4052C>T (p.Ser1351Leu)
|
|
|
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del)
|
rs773205979
|
|
NM_001371623.1(TCOF1):c.4120G>T (p.Gly1374Trp)
|
|
|
NM_001371623.1(TCOF1):c.4125G>A (p.Glu1375=)
|
|
|
NM_001371623.1(TCOF1):c.4171G>A (p.Ala1391Thr)
|
|
|
NM_001371623.1(TCOF1):c.4186G>T (p.Ala1396Ser)
|
|
|
NM_001371623.1(TCOF1):c.4209G>A (p.Lys1403=)
|
|
|
NM_001371623.1(TCOF1):c.4210_4214del (p.Lys1404fs)
|
rs2151105953
|
|
NM_001371623.1(TCOF1):c.4221dup (p.Ser1408fs)
|
rs1561540623
|
|
NM_001371623.1(TCOF1):c.4230C>T (p.Gly1410=)
|
rs1487242526
|
|
NM_001371623.1(TCOF1):c.4249G>C (p.Glu1417Gln)
|
|
|
NM_001371623.1(TCOF1):c.4314G>A (p.Lys1438=)
|
rs537931287
|
|
NM_001371623.1(TCOF1):c.4318A>G (p.Lys1440Glu)
|
rs2151107757
|
|
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del)
|
rs574569798
|
|
NM_001371623.1(TCOF1):c.4338C>T (p.Ser1446=)
|
|
|
NM_001371623.1(TCOF1):c.4342_4343del (p.Lys1448fs)
|
rs2151108281
|
|
NM_001371623.1(TCOF1):c.4345+10C>T
|
|
|
NM_001371623.1(TCOF1):c.4345+11G>A
|
rs370407398
|
|
NM_001371623.1(TCOF1):c.4345+11G>C
|
|
|
NM_001371623.1(TCOF1):c.4345+2T>C
|
rs2151108410
|
|
NM_001371623.1(TCOF1):c.4346-12_4346-8del
|
|
|
NM_001371623.1(TCOF1):c.434G>A (p.Gly145Glu)
|
|
|
NM_001371623.1(TCOF1):c.4358_4359del (p.Lys1453fs)
|
rs1554081108
|
|
NM_001371623.1(TCOF1):c.4360_4363del (p.Glu1454fs)
|
rs1554081112
|
|
NM_001371623.1(TCOF1):c.4361A>C (p.Glu1454Ala)
|
rs1561543582
|
|
NM_001371623.1(TCOF1):c.4361A>G (p.Glu1454Gly)
|
rs1561543582
|
|
NM_001371623.1(TCOF1):c.4364_4368del (p.Lys1455fs)
|
rs587776585
|
|
NM_001371623.1(TCOF1):c.4368dup (p.Glu1457fs)
|
rs587776585
|
|
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs)
|
rs587776582
|
|
NM_001371623.1(TCOF1):c.4374GAA[1] (p.Lys1460_Lys1461del)
|
rs151344581
|
|
NM_001371623.1(TCOF1):c.4374GAA[2] (p.Lys1461del)
|
rs151344581
|
|
NM_001371623.1(TCOF1):c.4378A>G (p.Lys1460Glu)
|
|
|
NM_001371623.1(TCOF1):c.4380G>A (p.Lys1460=)
|
|
|
NM_001371623.1(TCOF1):c.4393G>C (p.Ala1465Pro)
|
rs146405751
|
|
NM_001371623.1(TCOF1):c.4409_4410del (p.Asp1469_Ser1470insTer)
|
rs1554081168
|
|
NM_001371623.1(TCOF1):c.440C>T (p.Thr147Met)
|
|
|
NM_001371623.1(TCOF1):c.4413G>A (p.Glu1471=)
|
|
|
NM_001371623.1(TCOF1):c.441G>A (p.Thr147=)
|
|
|
NM_001371623.1(TCOF1):c.4429A>T (p.Lys1477Ter)
|
rs1769042136
|
|
NM_001371623.1(TCOF1):c.4434GAA[1] (p.Lys1483del)
|
|
|
NM_001371623.1(TCOF1):c.4443+12C>T
|
|
|
NM_001371623.1(TCOF1):c.4444-18G>A
|
|
|
NM_001371623.1(TCOF1):c.4448A>C (p.Lys1483Thr)
|
|
|
NM_001371623.1(TCOF1):c.444G>A (p.Val148=)
|
|
|
NM_001371623.1(TCOF1):c.457T>G (p.Ser153Ala)
|
|
|
NM_001371623.1(TCOF1):c.462del (p.Lys155fs)
|
rs2150555861
|
|
NM_001371623.1(TCOF1):c.481G>T (p.Ala161Ser)
|
rs370631849
|
|
NM_001371623.1(TCOF1):c.50A>G (p.His17Arg)
|
rs1057521108
|
|
NM_001371623.1(TCOF1):c.520G>T (p.Glu174Ter)
|
rs1761930554
|
|
NM_001371623.1(TCOF1):c.521AGG[2] (p.Glu176del)
|
rs767850463
|
|
NM_001371623.1(TCOF1):c.523G>T (p.Glu175Ter)
|
rs1195908562
|
|
NM_001371623.1(TCOF1):c.566-10C>T
|
|
|
NM_001371623.1(TCOF1):c.570G>A (p.Met190Ile)
|
|
|
NM_001371623.1(TCOF1):c.600_620del (p.Glu201_Ser207del)
|
rs1762083909
|
|
NM_001371623.1(TCOF1):c.618_619del (p.Ser206_Ser207insTer)
|
rs2150570748
|
|
NM_001371623.1(TCOF1):c.639+18C>G
|
|
|
NM_001371623.1(TCOF1):c.645del (p.Lys215fs)
|
rs2150623353
|
|
NM_001371623.1(TCOF1):c.791A>G (p.Lys264Arg)
|
|
|
NM_001371623.1(TCOF1):c.814A>G (p.Ser272Gly)
|
rs577953324
|
|
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del)
|
rs528897827
|
|
NM_001371623.1(TCOF1):c.827_844dup (p.Glu281_Glu282insGlySerGluSerGluGlu)
|
|
|
NM_001371623.1(TCOF1):c.835A>G (p.Ser279Gly)
|
rs1562326677
|
|
NM_001371623.1(TCOF1):c.839AGG[2] (p.Glu282del)
|
rs1160403859
|
|
NM_001371623.1(TCOF1):c.862C>T (p.Arg288Ter)
|
rs748805008
|
|
NM_001371623.1(TCOF1):c.863G>A (p.Arg288Gln)
|
|
|
NM_001371623.1(TCOF1):c.871-15T>C
|
|
|
NM_001371623.1(TCOF1):c.89T>G (p.Val30Gly)
|
rs1758963105
|
|
NM_001371623.1(TCOF1):c.930C>G (p.Thr310=)
|
|
|
NM_001371623.1(TCOF1):c.931C>T (p.Pro311Ser)
|
|
|
NM_001371623.1(TCOF1):c.946A>G (p.Thr316Ala)
|
|
|
NM_001371623.1(TCOF1):c.973_999del (p.Ala325_Gly333del)
|
rs1562337018
|
|
NM_001371623.1(TCOF1):c.983C>G (p.Ser328Cys)
|
rs1467499141
|
|
NM_001371623.1(TCOF1):c.984C>T (p.Ser328=)
|
rs2150684723
|
|
NM_001371623.1(TCOF1):c.995C>A (p.Ala332Glu)
|
|
|