ClinVar Miner

List of variants in gene TCOF1 studied for Treacher-Collins syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 557
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HGVS dbSNP gnomAD frequency
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.1083+39G>A rs56113366 0.05067
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.305-52A>G rs41287124 0.01012
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.1278+60G>C rs143713714 0.00827
NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile) rs75583421 0.00814
NM_001371623.1(TCOF1):c.2859+3303G>A rs112447402 0.00742
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.4443+108C>A rs111365835 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.2859+3389G>T rs151344575 0.00196
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.109-28T>C rs144149485 0.00168
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.2859+26A>G rs151344574 0.00120
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.1854G>A (p.Ala618=) rs151344570 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.2142+22C>T rs151344572 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.1598C>T (p.Thr533Ile) rs377521530 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.1953T>C (p.Thr651=) rs151344571 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.3603+64dup rs151344577 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.1086G>A (p.Ala362=) rs151344568 0.00001
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.4443+106G>T rs151344582 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.150374956_150374973del
NC_000005.9:g.(?_149775825)_(149778631_?)del
NM_001371623.1(TCOF1):c.1016C>G (p.Ser339Ter)
NM_001371623.1(TCOF1):c.1019_1022del (p.Glu340fs)
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.1075del (p.Leu359fs) rs2150687333
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.1204C>T (p.Gln402Ter) rs1763331046
NM_001371623.1(TCOF1):c.1208C>T (p.Ala403Val) rs773162787
NM_001371623.1(TCOF1):c.1216C>T (p.Arg406Trp)
NM_001371623.1(TCOF1):c.1243G>A (p.Glu415Lys)
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.1330_1340del (p.Lys444fs) rs1763415490
NM_001371623.1(TCOF1):c.1340C>G (p.Pro447Arg)
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.1399del (p.Gln467fs) rs2150706662
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.142del (p.Asp48fs)
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.149A>G (p.Tyr50Cys) rs28941769
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.158G>A (p.Trp53Ter)
NM_001371623.1(TCOF1):c.1597A>G (p.Thr533Ala)
NM_001371623.1(TCOF1):c.1602dup (p.Ser535fs)
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.1634C>G (p.Ser545Ter)
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.1705G>A (p.Glu569Lys) rs764314276
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.1849_1850del (p.Ser617fs)
NM_001371623.1(TCOF1):c.1893+8C>T
NM_001371623.1(TCOF1):c.1894-15T>C
NM_001371623.1(TCOF1):c.1916del (p.Pro639fs) rs2150732608
NM_001371623.1(TCOF1):c.1931G>A (p.Cys644Tyr)
NM_001371623.1(TCOF1):c.1955C>T (p.Ala652Val)
NM_001371623.1(TCOF1):c.1975G>C (p.Val659Leu)
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.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.2112_2116del (p.Glu704fs)
NM_001371623.1(TCOF1):c.2133C>T (p.Thr711=)
NM_001371623.1(TCOF1):c.2142+19G>C
NM_001371623.1(TCOF1):c.2142+1del rs1763794839
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.2257C>T (p.Gln753Ter) rs1490116413
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.2388dup (p.Ala797fs)
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.2464_2467dup (p.Ser823Ter) rs1764427494
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.2490del (p.Pro830_Val831insTer)
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.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.2656C>T (p.Gln886Ter) rs786205575
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.2717C>T (p.Ser906Phe)
NM_001371623.1(TCOF1):c.2722del (p.Arg908fs) rs2150816737
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.2853dup (p.Ala952fs)
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.304+5G>C
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.3046G>A (p.Gly1016Ser) rs1766647259
NM_001371623.1(TCOF1):c.3047-1G>A rs2151009927
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.3099del (p.Ala1035fs)
NM_001371623.1(TCOF1):c.3107dup (p.Ser1036fs) rs587777314
NM_001371623.1(TCOF1):c.3133dup (p.Glu1045fs) rs1554078461
NM_001371623.1(TCOF1):c.3183+18G>A
NM_001371623.1(TCOF1):c.3183G>C (p.Gln1061His)
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.3352C>T (p.Gln1118Ter) rs1581203344
NM_001371623.1(TCOF1):c.3366C>G (p.Thr1122=)
NM_001371623.1(TCOF1):c.3368A>G (p.Asn1123Ser) rs2151037169
NM_001371623.1(TCOF1):c.3385_3389dup (p.Pro1131fs)
NM_001371623.1(TCOF1):c.3388del (p.Leu1130fs)
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.3629del (p.Pro1210fs)
NM_001371623.1(TCOF1):c.3631G>A (p.Gly1211Arg)
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.3679_3697delinsCTCTGG (p.Asp1227fs) rs2151059839
NM_001371623.1(TCOF1):c.3683C>T (p.Ser1228Phe) rs1554079581
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.3711del (p.Ala1238fs) rs2151060309
NM_001371623.1(TCOF1):c.3750C>T (p.Pro1250=) rs1171799911
NM_001371623.1(TCOF1):c.3754del (p.Gln1252fs)
NM_001371623.1(TCOF1):c.376_378+15del rs587776584
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.3840_3841del (p.Ala1282fs)
NM_001371623.1(TCOF1):c.3856C>T (p.Gln1286Ter) rs2151099050
NM_001371623.1(TCOF1):c.3856del (p.Gln1286fs)
NM_001371623.1(TCOF1):c.3858A>G (p.Gln1286=)
NM_001371623.1(TCOF1):c.386_387del (p.Thr129fs) rs797046037
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.3973dup (p.Glu1325fs) rs1554080460
NM_001371623.1(TCOF1):c.3979G>A (p.Glu1327Lys)
NM_001371623.1(TCOF1):c.3987_3988del (p.Lys1330fs) rs2151100918
NM_001371623.1(TCOF1):c.3991G>A (p.Val1331Met)
NM_001371623.1(TCOF1):c.4021A>C (p.Lys1341Gln)
NM_001371623.1(TCOF1):c.4023G>T (p.Lys1341Asn) rs199890846
NM_001371623.1(TCOF1):c.4027dup (p.Trp1343fs) rs2151101668
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.4064del (p.Pro1355fs) rs1581224630
NM_001371623.1(TCOF1):c.4080del (p.Arg1361fs) rs2151102857
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.4132_4133del (p.Val1378fs) rs1554080589
NM_001371623.1(TCOF1):c.4141G>T (p.Glu1381Ter) rs1768581035
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.422dup (p.His141fs) rs587776580
NM_001371623.1(TCOF1):c.4230C>T (p.Gly1410=) rs1487242526
NM_001371623.1(TCOF1):c.4243A>T (p.Lys1415Ter)
NM_001371623.1(TCOF1):c.4249G>C (p.Glu1417Gln)
NM_001371623.1(TCOF1):c.4298_4299delinsGA (p.Asp1433Gly) rs151344580
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.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.4360delinsAAAAAGACAAAAAA (p.Glu1454fs)
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.4368del (p.Glu1457fs) rs587776585
NM_001371623.1(TCOF1):c.4368dup (p.Glu1457fs) rs587776585
NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs)
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.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.497_500del (p.Asn166fs) rs587776581
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.551del (p.Ala184fs)
NM_001371623.1(TCOF1):c.566-10C>T
NM_001371623.1(TCOF1):c.570G>A (p.Met190Ile)
NM_001371623.1(TCOF1):c.583C>T (p.Gln195Ter)
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.630_631insCTG (p.Thr210_Asp211insLeu) rs1581075276
NM_001371623.1(TCOF1):c.633_634del (p.Val212fs) rs1581075356
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.85G>C (p.Glu29Gln)
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.928A>C (p.Thr310Pro)
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.985C>T (p.Gln329Ter) rs119470016
NM_001371623.1(TCOF1):c.995C>A (p.Ala332Glu)
NM_001371623.1(TCOF1):c.999_1000insT (p.Lys334Ter)

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