NM_017849.4(TMEM127):c.*1958A>C
|
rs7058
|
0.56373
|
NM_017849.3(TMEM127):c.-371A>G
|
rs2301707
|
0.24593
|
NM_017849.4(TMEM127):c.245-158A>C
|
rs72825877
|
0.14584
|
NM_017849.4(TMEM127):c.621G>A (p.Ala207=)
|
rs3852673
|
0.13717
|
NM_017849.4(TMEM127):c.*338G>A
|
rs13022177
|
0.03241
|
NM_017849.4(TMEM127):c.*1301T>C
|
rs3770239
|
0.01488
|
NM_017849.4(TMEM127):c.*2086C>T
|
rs13418193
|
0.00895
|
NM_017849.4(TMEM127):c.*1163C>T
|
rs11691019
|
0.00769
|
NM_017849.4(TMEM127):c.*50C>T
|
rs72937654
|
0.00712
|
NM_017849.4(TMEM127):c.*2012C>T
|
rs149122699
|
0.00641
|
NM_017849.4(TMEM127):c.409+45G>C
|
rs140817879
|
0.00545
|
NM_017849.4(TMEM127):c.409+7C>T
|
rs189327749
|
0.00487
|
NM_017849.4(TMEM127):c.*1306C>T
|
rs148119945
|
0.00371
|
NM_017849.4(TMEM127):c.268G>A (p.Val90Met)
|
rs121908823
|
0.00264
|
NM_017849.4(TMEM127):c.*2498C>T
|
rs191565203
|
0.00173
|
NM_017849.4(TMEM127):c.*2845T>G
|
rs182729595
|
0.00168
|
NM_017849.4(TMEM127):c.*1233C>T
|
rs536712285
|
0.00162
|
NM_017849.4(TMEM127):c.*2300G>A
|
rs117655540
|
0.00153
|
NM_017849.4(TMEM127):c.*502C>T
|
rs191970829
|
0.00128
|
NM_017849.4(TMEM127):c.*2291_*2292del
|
rs566328757
|
0.00091
|
NM_017849.4(TMEM127):c.*57C>T
|
rs147532087
|
0.00089
|
NM_017849.4(TMEM127):c.572C>T (p.Thr191Met)
|
rs200327514
|
0.00082
|
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn)
|
rs121908819
|
0.00073
|
NM_017849.4(TMEM127):c.*3209A>G
|
rs186348610
|
0.00064
|
NM_017849.4(TMEM127):c.*2128C>A
|
rs533813582
|
0.00061
|
NM_017849.4(TMEM127):c.*980G>A
|
rs77989183
|
0.00056
|
NM_017849.4(TMEM127):c.*2966C>G
|
rs17119378
|
0.00049
|
NM_017849.4(TMEM127):c.*1849T>G
|
rs867431947
|
0.00046
|
NM_017849.4(TMEM127):c.573G>A (p.Thr191=)
|
rs147816248
|
0.00028
|
NM_017849.4(TMEM127):c.*612C>T
|
rs549115489
|
0.00024
|
NM_017849.4(TMEM127):c.565C>T (p.Leu189=)
|
rs146965678
|
0.00022
|
NM_017849.4(TMEM127):c.*3396G>A
|
rs762419401
|
0.00020
|
NM_017849.4(TMEM127):c.*3569C>T
|
rs140274612
|
0.00020
|
NM_017849.4(TMEM127):c.*1257C>G
|
rs574710319
|
0.00018
|
NM_017849.4(TMEM127):c.136A>G (p.Thr46Ala)
|
rs144659242
|
0.00018
|
NM_017849.4(TMEM127):c.410-17G>A
|
rs369750335
|
0.00016
|
NM_017849.4(TMEM127):c.*2719G>A
|
rs140164805
|
0.00014
|
NM_017849.4(TMEM127):c.*1178A>G
|
rs748572058
|
0.00012
|
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)
|
rs373951977
|
0.00012
|
NM_017849.4(TMEM127):c.*1638G>C
|
rs753339060
|
0.00009
|
NM_017849.4(TMEM127):c.*3134C>T
|
rs566067694
|
0.00009
|
NM_017849.4(TMEM127):c.*3584G>C
|
rs370166706
|
0.00009
|
NM_017849.4(TMEM127):c.522C>T (p.Ala174=)
|
rs367951215
|
0.00009
|
NM_017849.4(TMEM127):c.*3025G>C
|
rs886056430
|
0.00008
|
NM_017849.4(TMEM127):c.324C>T (p.Leu108=)
|
rs148381232
|
0.00007
|
NM_017849.4(TMEM127):c.*2121G>T
|
rs778493549
|
0.00006
|
NM_017849.4(TMEM127):c.*2875A>G
|
rs915390483
|
0.00006
|
NM_017849.4(TMEM127):c.*3560G>T
|
rs886056428
|
0.00006
|
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp)
|
rs121908824
|
0.00006
|
NM_017849.4(TMEM127):c.*1723C>T
|
rs551200730
|
0.00005
|
NM_017849.4(TMEM127):c.*1879G>A
|
rs766485637
|
0.00005
|
NM_017849.4(TMEM127):c.*2800T>G
|
rs1037492575
|
0.00005
|
NM_017849.4(TMEM127):c.*3271A>G
|
rs569110562
|
0.00005
|
NM_017849.4(TMEM127):c.-220T>C
|
rs886056452
|
0.00005
|
NM_017849.4(TMEM127):c.348T>C (p.Phe116=)
|
rs926978443
|
0.00005
|
NM_017849.4(TMEM127):c.*16C>G
|
rs1251288941
|
0.00004
|
NM_017849.4(TMEM127):c.*3049T>C
|
rs1242736942
|
0.00004
|
NM_017849.4(TMEM127):c.145G>A (p.Ala49Thr)
|
rs577020327
|
0.00004
|
NM_017849.4(TMEM127):c.213G>A (p.Val71=)
|
rs777169152
|
0.00004
|
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)
|
rs121908820
|
0.00004
|
NM_017849.4(TMEM127):c.245-1G>C
|
rs121908821
|
0.00004
|
NM_017849.4(TMEM127):c.270G>T (p.Val90=)
|
rs748896126
|
0.00004
|
NM_017849.4(TMEM127):c.393C>T (p.Phe131=)
|
rs756680897
|
0.00004
|
NM_017849.4(TMEM127):c.519C>T (p.Phe173=)
|
rs758676810
|
0.00004
|
NM_017849.4(TMEM127):c.*2503C>T
|
rs886056435
|
0.00003
|
NM_017849.4(TMEM127):c.*2563G>A
|
rs1483429634
|
0.00003
|
NM_017849.4(TMEM127):c.-242G>A
|
rs886056453
|
0.00003
|
NM_017849.4(TMEM127):c.221A>C (p.Tyr74Ser)
|
rs747804736
|
0.00003
|
NM_017849.4(TMEM127):c.221A>G (p.Tyr74Cys)
|
rs747804736
|
0.00003
|
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln)
|
rs746831347
|
0.00003
|
NM_017849.4(TMEM127):c.288C>G (p.Ile96Met)
|
rs758726687
|
0.00003
|
NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys)
|
rs746883021
|
0.00003
|
NM_017849.4(TMEM127):c.398A>G (p.His133Arg)
|
rs587782203
|
0.00003
|
NM_017849.4(TMEM127):c.407C>T (p.Thr136Met)
|
rs759138897
|
0.00003
|
NM_017849.4(TMEM127):c.413T>C (p.Leu138Pro)
|
rs772714957
|
0.00003
|
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter)
|
rs886039439
|
0.00003
|
NM_017849.4(TMEM127):c.494A>G (p.His165Arg)
|
rs752030320
|
0.00003
|
NM_017849.4(TMEM127):c.672T>C (p.Tyr224=)
|
rs201935270
|
0.00003
|
NM_017849.4(TMEM127):c.*1505A>G
|
rs118172849
|
0.00002
|
NM_017849.4(TMEM127):c.*1620C>T
|
rs886056440
|
0.00002
|
NM_017849.4(TMEM127):c.*2171C>T
|
rs555968113
|
0.00002
|
NM_017849.4(TMEM127):c.253A>G (p.Met85Val)
|
rs771261665
|
0.00002
|
NM_017849.4(TMEM127):c.267A>G (p.Thr89=)
|
rs773384410
|
0.00002
|
NM_017849.4(TMEM127):c.289G>A (p.Ala97Thr)
|
rs752938517
|
0.00002
|
NM_017849.4(TMEM127):c.327C>T (p.Ser109=)
|
rs773650718
|
0.00002
|
NM_017849.4(TMEM127):c.409+19C>T
|
rs1484437085
|
0.00002
|
NM_017849.4(TMEM127):c.409+8G>A
|
rs749887924
|
0.00002
|
NM_017849.4(TMEM127):c.410-4C>T
|
rs1412595514
|
0.00002
|
NM_017849.4(TMEM127):c.410-6T>G
|
rs765971817
|
0.00002
|
NM_017849.4(TMEM127):c.410-7C>T
|
rs375440877
|
0.00002
|
NM_017849.4(TMEM127):c.427G>A (p.Val143Ile)
|
rs772153618
|
0.00002
|
NM_017849.4(TMEM127):c.438T>C (p.Phe146=)
|
rs774321958
|
0.00002
|
NM_017849.4(TMEM127):c.444T>C (p.Tyr148=)
|
rs768545721
|
0.00002
|
NM_017849.4(TMEM127):c.486G>A (p.Lys162=)
|
rs536032990
|
0.00002
|
NM_017849.4(TMEM127):c.489G>A (p.Lys163=)
|
rs757792507
|
0.00002
|
NM_017849.4(TMEM127):c.615G>C (p.Glu205Asp)
|
rs1434849865
|
0.00002
|
NM_017849.4(TMEM127):c.620C>T (p.Ala207Val)
|
rs751044006
|
0.00002
|
NM_017849.4(TMEM127):c.700C>A (p.Pro234Thr)
|
rs780992481
|
0.00002
|
NM_017849.4(TMEM127):c.*1784C>T
|
rs571939749
|
0.00001
|
NM_017849.4(TMEM127):c.*179C>T
|
rs932134479
|
0.00001
|
NM_017849.4(TMEM127):c.*1822T>C
|
rs144880727
|
0.00001
|
NM_017849.4(TMEM127):c.*2245A>G
|
rs886056438
|
0.00001
|
NM_017849.4(TMEM127):c.*2299C>T
|
rs896902158
|
0.00001
|
NM_017849.4(TMEM127):c.*2445G>T
|
rs886056436
|
0.00001
|
NM_017849.4(TMEM127):c.*2518C>A
|
rs1181236784
|
0.00001
|
NM_017849.4(TMEM127):c.*2760A>C
|
rs886056431
|
0.00001
|
NM_017849.4(TMEM127):c.*2911C>T
|
rs1461511429
|
0.00001
|
NM_017849.4(TMEM127):c.*3391G>A
|
rs1260000636
|
0.00001
|
NM_017849.4(TMEM127):c.*340G>A
|
rs1032246352
|
0.00001
|
NM_017849.4(TMEM127):c.*3568C>G
|
rs886056427
|
0.00001
|
NM_017849.4(TMEM127):c.-196C>T
|
rs886056451
|
0.00001
|
NM_017849.4(TMEM127):c.129G>A (p.Ala43=)
|
rs1478096731
|
0.00001
|
NM_017849.4(TMEM127):c.130C>T (p.Leu44=)
|
rs754493061
|
0.00001
|
NM_017849.4(TMEM127):c.133T>A (p.Cys45Ser)
|
rs995979769
|
0.00001
|
NM_017849.4(TMEM127):c.143T>C (p.Leu48Pro)
|
rs1219876266
|
0.00001
|
NM_017849.4(TMEM127):c.152C>T (p.Pro51Leu)
|
rs1573977765
|
0.00001
|
NM_017849.4(TMEM127):c.154G>T (p.Ala52Ser)
|
rs767257269
|
0.00001
|
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser)
|
rs121908818
|
0.00001
|
NM_017849.4(TMEM127):c.166A>G (p.Ile56Val)
|
rs751779219
|
0.00001
|
NM_017849.4(TMEM127):c.169C>T (p.His57Tyr)
|
rs1294717128
|
0.00001
|
NM_017849.4(TMEM127):c.172G>A (p.Gly58Arg)
|
rs764136807
|
0.00001
|
NM_017849.4(TMEM127):c.192G>C (p.Gln64His)
|
rs1684389208
|
0.00001
|
NM_017849.4(TMEM127):c.197T>C (p.Leu66Pro)
|
rs1249787183
|
0.00001
|
NM_017849.4(TMEM127):c.204C>T (p.Val68=)
|
rs775642794
|
0.00001
|
NM_017849.4(TMEM127):c.205T>C (p.Ser69Pro)
|
rs1424733983
|
0.00001
|
NM_017849.4(TMEM127):c.211G>A (p.Val71Met)
|
rs142947571
|
0.00001
|
NM_017849.4(TMEM127):c.229C>T (p.Pro77Ser)
|
rs1390685113
|
0.00001
|
NM_017849.4(TMEM127):c.230C>T (p.Pro77Leu)
|
rs368949257
|
0.00001
|
NM_017849.4(TMEM127):c.245-3C>T
|
rs181429509
|
0.00001
|
NM_017849.4(TMEM127):c.245-4A>G
|
rs962270831
|
0.00001
|
NM_017849.4(TMEM127):c.245-7T>C
|
rs1266586655
|
0.00001
|
NM_017849.4(TMEM127):c.250T>G (p.Cys84Gly)
|
rs1369345321
|
0.00001
|
NM_017849.4(TMEM127):c.259C>G (p.Pro87Ala)
|
rs761101636
|
0.00001
|
NM_017849.4(TMEM127):c.299G>C (p.Cys100Ser)
|
rs886056447
|
0.00001
|
NM_017849.4(TMEM127):c.313C>T (p.Leu105=)
|
rs754465684
|
0.00001
|
NM_017849.4(TMEM127):c.314T>C (p.Leu105Pro)
|
rs766918841
|
0.00001
|
NM_017849.4(TMEM127):c.315G>T (p.Leu105=)
|
rs1440094325
|
0.00001
|
NM_017849.4(TMEM127):c.325T>C (p.Ser109Pro)
|
rs761032675
|
0.00001
|
NM_017849.4(TMEM127):c.328G>A (p.Ala110Thr)
|
rs767739392
|
0.00001
|
NM_017849.4(TMEM127):c.330T>C (p.Ala110=)
|
rs1157106593
|
0.00001
|
NM_017849.4(TMEM127):c.333C>T (p.Phe111=)
|
rs1467642553
|
0.00001
|
NM_017849.4(TMEM127):c.353C>T (p.Pro118Leu)
|
rs769359648
|
0.00001
|
NM_017849.4(TMEM127):c.354G>A (p.Pro118=)
|
rs1392614291
|
0.00001
|
NM_017849.4(TMEM127):c.377C>T (p.Thr126Ile)
|
rs775944671
|
0.00001
|
NM_017849.4(TMEM127):c.380G>A (p.Arg127His)
|
rs777665433
|
0.00001
|
NM_017849.4(TMEM127):c.383G>A (p.Arg128His)
|
rs779277417
|
0.00001
|
NM_017849.4(TMEM127):c.384C>T (p.Arg128=)
|
rs755188175
|
0.00001
|
NM_017849.4(TMEM127):c.394G>A (p.Ala132Thr)
|
rs750870974
|
0.00001
|
NM_017849.4(TMEM127):c.408G>T (p.Thr136=)
|
rs143522428
|
0.00001
|
NM_017849.4(TMEM127):c.410-18T>C
|
rs1374413238
|
0.00001
|
NM_017849.4(TMEM127):c.410-5C>T
|
rs1356874783
|
0.00001
|
NM_017849.4(TMEM127):c.411T>A (p.Val137=)
|
rs760099422
|
0.00001
|
NM_017849.4(TMEM127):c.419G>T (p.Cys140Phe)
|
rs121908828
|
0.00001
|
NM_017849.4(TMEM127):c.424A>C (p.Thr142Pro)
|
rs936034324
|
0.00001
|
NM_017849.4(TMEM127):c.426C>T (p.Thr142=)
|
rs552787569
|
0.00001
|
NM_017849.4(TMEM127):c.435C>G (p.Gly145=)
|
rs761795793
|
0.00001
|
NM_017849.4(TMEM127):c.451T>C (p.Ser151Pro)
|
rs964860224
|
0.00001
|
NM_017849.4(TMEM127):c.462C>G (p.Ile154Met)
|
rs987656498
|
0.00001
|
NM_017849.4(TMEM127):c.468C>A (p.Ala156=)
|
rs749579854
|
0.00001
|
NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter)
|
rs780133289
|
0.00001
|
NM_017849.4(TMEM127):c.485A>G (p.Lys162Arg)
|
rs745947594
|
0.00001
|
NM_017849.4(TMEM127):c.506T>A (p.Val169Asp)
|
rs1364190464
|
0.00001
|
NM_017849.4(TMEM127):c.520G>A (p.Ala174Thr)
|
rs753594901
|
0.00001
|
NM_017849.4(TMEM127):c.523G>A (p.Val175Ile)
|
rs149034651
|
0.00001
|
NM_017849.4(TMEM127):c.534C>T (p.Tyr178=)
|
rs550833832
|
0.00001
|
NM_017849.4(TMEM127):c.545G>A (p.Gly182Glu)
|
rs761885719
|
0.00001
|
NM_017849.4(TMEM127):c.556G>C (p.Ala186Pro)
|
rs764012422
|
0.00001
|
NM_017849.4(TMEM127):c.562A>G (p.Ile188Val)
|
rs762657413
|
0.00001
|
NM_017849.4(TMEM127):c.585C>T (p.Leu195=)
|
rs758874572
|
0.00001
|
NM_017849.4(TMEM127):c.589C>T (p.Arg197Cys)
|
rs140860906
|
0.00001
|
NM_017849.4(TMEM127):c.590G>A (p.Arg197His)
|
rs1231066976
|
0.00001
|
NM_017849.4(TMEM127):c.619G>A (p.Ala207Thr)
|
rs756818796
|
0.00001
|
NM_017849.4(TMEM127):c.633C>T (p.Leu211=)
|
rs368792184
|
0.00001
|
NM_017849.4(TMEM127):c.640A>T (p.Met214Leu)
|
rs1239484250
|
0.00001
|
NM_017849.4(TMEM127):c.642G>T (p.Met214Ile)
|
rs1485424649
|
0.00001
|
NM_017849.4(TMEM127):c.651C>T (p.Asn217=)
|
rs759801591
|
0.00001
|
NM_017849.4(TMEM127):c.654G>A (p.Glu218=)
|
rs776822044
|
0.00001
|
NM_017849.4(TMEM127):c.657C>T (p.Pro219=)
|
rs1213216357
|
0.00001
|
NM_017849.4(TMEM127):c.658T>C (p.Tyr220His)
|
rs1684141729
|
0.00001
|
NM_017849.4(TMEM127):c.662C>T (p.Pro221Leu)
|
rs144326855
|
0.00001
|
NM_017849.4(TMEM127):c.663G>A (p.Pro221=)
|
rs377760956
|
0.00001
|
NM_017849.4(TMEM127):c.666G>A (p.Ala222=)
|
rs772481029
|
0.00001
|
NM_017849.4(TMEM127):c.693G>C (p.Gln231His)
|
rs755351925
|
0.00001
|
NM_017849.4(TMEM127):c.712C>A (p.Pro238Thr)
|
rs1184921725
|
0.00001
|
NC_000002.11:g.(?_96919546)_(96920745_?)del
|
|
|
NC_000002.11:g.(?_96930856)_(96931119_?)dup
|
|
|
NC_000002.11:g.(?_96930866)_(96931137_?)del
|
|
|
NC_000002.12:g.(?_96253808)_(96265399_?)del
|
|
|
NC_000002.12:g.(?_96253808)_(96265399_?)dup
|
|
|
NC_000002.12:g.(?_96265128)_(96265399_?)dup
|
|
|
NM_017849.3:c.498_499insALU
|
|
|
NM_017849.4(TMEM127):c.*1197T>C
|
rs886056442
|
|
NM_017849.4(TMEM127):c.*1252C>G
|
rs886056441
|
|
NM_017849.4(TMEM127):c.*1406G>A
|
rs534881507
|
|
NM_017849.4(TMEM127):c.*1772G>A
|
rs537225254
|
|
NM_017849.4(TMEM127):c.*1819C>A
|
rs551671260
|
|
NM_017849.4(TMEM127):c.*1819C>G
|
rs551671260
|
|
NM_017849.4(TMEM127):c.*1883_*1886dup
|
rs886056439
|
|
NM_017849.4(TMEM127):c.*2101_*2103del
|
rs3832113
|
|
NM_017849.4(TMEM127):c.*2270dup
|
rs886056437
|
|
NM_017849.4(TMEM127):c.*2411C>A
|
rs1158489118
|
|
NM_017849.4(TMEM127):c.*249G>A
|
rs886056446
|
|
NM_017849.4(TMEM127):c.*2548T>C
|
rs886056434
|
|
NM_017849.4(TMEM127):c.*2642C>T
|
rs886056433
|
|
NM_017849.4(TMEM127):c.*2684C>G
|
rs1684078512
|
|
NM_017849.4(TMEM127):c.*2717C>G
|
rs886056432
|
|
NM_017849.4(TMEM127):c.*2860A>G
|
rs1289173127
|
|
NM_017849.4(TMEM127):c.*2888del
|
rs139762991
|
|
NM_017849.4(TMEM127):c.*3200GTT[2]
|
rs141956691
|
|
NM_017849.4(TMEM127):c.*3348G>C
|
rs886056429
|
|
NM_017849.4(TMEM127):c.*547G>A
|
|
|
NM_017849.4(TMEM127):c.*662G>A
|
rs886056445
|
|
NM_017849.4(TMEM127):c.*674dup
|
rs201871634
|
|
NM_017849.4(TMEM127):c.*760del
|
rs371530522
|
|
NM_017849.4(TMEM127):c.*760dup
|
rs371530522
|
|
NM_017849.4(TMEM127):c.*866C>T
|
rs926874804
|
|
NM_017849.4(TMEM127):c.*883C>G
|
rs886056443
|
|
NM_017849.4(TMEM127):c.*980G>C
|
rs77989183
|
|
NM_017849.4(TMEM127):c.126G>A (p.Thr42=)
|
rs1573977835
|
|
NM_017849.4(TMEM127):c.126G>C (p.Thr42=)
|
rs1573977835
|
|
NM_017849.4(TMEM127):c.126G>T (p.Thr42=)
|
rs1573977835
|
|
NM_017849.4(TMEM127):c.127G>A (p.Ala43Thr)
|
rs2104307898
|
|
NM_017849.4(TMEM127):c.128C>A (p.Ala43Glu)
|
rs1684392280
|
|
NM_017849.4(TMEM127):c.128C>G (p.Ala43Gly)
|
|
|
NM_017849.4(TMEM127):c.129G>T (p.Ala43=)
|
|
|
NM_017849.4(TMEM127):c.130C>G (p.Leu44Val)
|
|
|
NM_017849.4(TMEM127):c.131T>C (p.Leu44Pro)
|
|
|
NM_017849.4(TMEM127):c.131T>G (p.Leu44Arg)
|
|
|
NM_017849.4(TMEM127):c.134G>T (p.Cys45Phe)
|
rs1684391872
|
|
NM_017849.4(TMEM127):c.136A>C (p.Thr46Pro)
|
|
|
NM_017849.4(TMEM127):c.136A>T (p.Thr46Ser)
|
rs144659242
|
|
NM_017849.4(TMEM127):c.137C>G (p.Thr46Ser)
|
rs1327376770
|
|
NM_017849.4(TMEM127):c.139G>A (p.Ala47Thr)
|
rs2104307805
|
|
NM_017849.4(TMEM127):c.140C>A (p.Ala47Asp)
|
rs1022275292
|
|
NM_017849.4(TMEM127):c.140C>T (p.Ala47Val)
|
|
|
NM_017849.4(TMEM127):c.141C>T (p.Ala47=)
|
|
|
NM_017849.4(TMEM127):c.143T>A (p.Leu48His)
|
|
|
NM_017849.4(TMEM127):c.144C>T (p.Leu48=)
|
rs1684391372
|
|
NM_017849.4(TMEM127):c.145G>C (p.Ala49Pro)
|
|
|
NM_017849.4(TMEM127):c.147C>G (p.Ala49=)
|
rs750237643
|
|
NM_017849.4(TMEM127):c.147_159del (p.Glu50fs)
|
|
|
NM_017849.4(TMEM127):c.148G>A (p.Glu50Lys)
|
rs1437924634
|
|
NM_017849.4(TMEM127):c.149dup (p.Pro51fs)
|
rs121908817
|
|
NM_017849.4(TMEM127):c.151C>G (p.Pro51Ala)
|
rs2104307726
|
|
NM_017849.4(TMEM127):c.152C>G (p.Pro51Arg)
|
rs1573977765
|
|
NM_017849.4(TMEM127):c.153C>G (p.Pro51=)
|
rs1573977758
|
|
NM_017849.4(TMEM127):c.153C>T (p.Pro51=)
|
rs1573977758
|
|
NM_017849.4(TMEM127):c.154G>A (p.Ala52Thr)
|
rs767257269
|
|
NM_017849.4(TMEM127):c.155C>G (p.Ala52Gly)
|
|
|
NM_017849.4(TMEM127):c.157T>G (p.Trp53Gly)
|
rs1684390862
|
|
NM_017849.4(TMEM127):c.158G>A (p.Trp53Ter)
|
rs121908818
|
|
NM_017849.4(TMEM127):c.159G>T (p.Trp53Cys)
|
|
|
NM_017849.4(TMEM127):c.161T>G (p.Leu54Trp)
|
|
|
NM_017849.4(TMEM127):c.163C>T (p.His55Tyr)
|
|
|
NM_017849.4(TMEM127):c.164A>C (p.His55Pro)
|
rs894041563
|
|
NM_017849.4(TMEM127):c.165C>A (p.His55Gln)
|
|
|
NM_017849.4(TMEM127):c.165C>T (p.His55=)
|
|
|
NM_017849.4(TMEM127):c.167T>A (p.Ile56Asn)
|
rs1177862234
|
|
NM_017849.4(TMEM127):c.167T>C (p.Ile56Thr)
|
|
|
NM_017849.4(TMEM127):c.168C>T (p.Ile56=)
|
rs2104307611
|
|
NM_017849.4(TMEM127):c.170A>G (p.His57Arg)
|
|
|
NM_017849.4(TMEM127):c.171C>G (p.His57Gln)
|
rs1573977723
|
|
NM_017849.4(TMEM127):c.171C>T (p.His57=)
|
rs1573977723
|
|
NM_017849.4(TMEM127):c.173G>A (p.Gly58Glu)
|
rs1684390081
|
|
NM_017849.4(TMEM127):c.176G>A (p.Gly59Asp)
|
|
|
NM_017849.4(TMEM127):c.176G>T (p.Gly59Val)
|
rs1684390010
|
|
NM_017849.4(TMEM127):c.177C>T (p.Gly59=)
|
|
|
NM_017849.4(TMEM127):c.179C>A (p.Thr60Asn)
|
rs1171618626
|
|
NM_017849.4(TMEM127):c.179C>T (p.Thr60Ile)
|
rs1171618626
|
|
NM_017849.4(TMEM127):c.181T>A (p.Cys61Ser)
|
|
|
NM_017849.4(TMEM127):c.181T>C (p.Cys61Arg)
|
|
|
NM_017849.4(TMEM127):c.182G>A (p.Cys61Tyr)
|
rs886056448
|
|
NM_017849.4(TMEM127):c.182G>C (p.Cys61Ser)
|
rs886056448
|
|
NM_017849.4(TMEM127):c.182del (p.Cys61fs)
|
|
|
NM_017849.4(TMEM127):c.185C>A (p.Ser62Ter)
|
|
|
NM_017849.4(TMEM127):c.185C>G (p.Ser62Trp)
|
|
|
NM_017849.4(TMEM127):c.185C>T (p.Ser62Leu)
|
rs1248364576
|
|
NM_017849.4(TMEM127):c.186G>A (p.Ser62=)
|
rs1573977697
|
|
NM_017849.4(TMEM127):c.186G>C (p.Ser62=)
|
|
|
NM_017849.4(TMEM127):c.187C>A (p.Arg63Ser)
|
rs1558756534
|
|
NM_017849.4(TMEM127):c.187C>G (p.Arg63Gly)
|
|
|
NM_017849.4(TMEM127):c.187C>T (p.Arg63Cys)
|
rs1558756534
|
|
NM_017849.4(TMEM127):c.188G>A (p.Arg63His)
|
rs1187661049
|
|
NM_017849.4(TMEM127):c.188G>T (p.Arg63Leu)
|
rs1187661049
|
|
NM_017849.4(TMEM127):c.191A>G (p.Gln64Arg)
|
|
|
NM_017849.4(TMEM127):c.193G>A (p.Glu65Lys)
|
|
|
NM_017849.4(TMEM127):c.193G>T (p.Glu65Ter)
|
|
|
NM_017849.4(TMEM127):c.194A>C (p.Glu65Ala)
|
|
|
NM_017849.4(TMEM127):c.194A>G (p.Glu65Gly)
|
|
|
NM_017849.4(TMEM127):c.195G>A (p.Glu65=)
|
|
|
NM_017849.4(TMEM127):c.196C>G (p.Leu66Val)
|
rs1211097710
|
|
NM_017849.4(TMEM127):c.196C>T (p.Leu66=)
|
rs1211097710
|
|
NM_017849.4(TMEM127):c.198G>A (p.Leu66=)
|
rs2104307422
|
|
NM_017849.4(TMEM127):c.198G>C (p.Leu66=)
|
rs2104307422
|
|
NM_017849.4(TMEM127):c.198G>T (p.Leu66=)
|
|
|
NM_017849.4(TMEM127):c.199G>A (p.Gly67Arg)
|
|
|
NM_017849.4(TMEM127):c.200G>T (p.Gly67Val)
|
rs1573977675
|
|
NM_017849.4(TMEM127):c.201G>A (p.Gly67=)
|
rs1684388788
|
|
NM_017849.4(TMEM127):c.202G>A (p.Val68Ile)
|
|
|
NM_017849.4(TMEM127):c.202dup (p.Val68fs)
|
rs1684388744
|
|
NM_017849.4(TMEM127):c.206C>T (p.Ser69Phe)
|
|
|
NM_017849.4(TMEM127):c.208del (p.Asp70fs)
|
|
|
NM_017849.4(TMEM127):c.210C>T (p.Asp70=)
|
rs1553437721
|
|
NM_017849.4(TMEM127):c.211G>C (p.Val71Leu)
|
|
|
NM_017849.4(TMEM127):c.211G>T (p.Val71Leu)
|
|
|
NM_017849.4(TMEM127):c.212T>A (p.Val71Glu)
|
rs1553437719
|
|
NM_017849.4(TMEM127):c.212T>C (p.Val71Ala)
|
|
|
NM_017849.4(TMEM127):c.213G>T (p.Val71=)
|
rs777169152
|
|
NM_017849.4(TMEM127):c.214T>A (p.Leu72Met)
|
|
|
NM_017849.4(TMEM127):c.214T>C (p.Leu72=)
|
rs1573977624
|
|
NM_017849.4(TMEM127):c.216G>A (p.Leu72=)
|
|
|
NM_017849.4(TMEM127):c.218G>A (p.Gly73Asp)
|
|
|
NM_017849.4(TMEM127):c.218G>C (p.Gly73Ala)
|
rs1304152721
|
|
NM_017849.4(TMEM127):c.218del (p.Gly73fs)
|
rs2104307293
|
|
NM_017849.4(TMEM127):c.222T>C (p.Tyr74=)
|
rs2104307270
|
|
NM_017849.4(TMEM127):c.223G>A (p.Val75Met)
|
rs2104307262
|
|
NM_017849.4(TMEM127):c.224T>A (p.Val75Glu)
|
rs2104307256
|
|
NM_017849.4(TMEM127):c.224del (p.Val75fs)
|
|
|
NM_017849.4(TMEM127):c.225G>A (p.Val75=)
|
rs1358019729
|
|
NM_017849.4(TMEM127):c.226C>T (p.His76Tyr)
|
|
|
NM_017849.4(TMEM127):c.228C>A (p.His76Gln)
|
rs1060500599
|
|
NM_017849.4(TMEM127):c.228C>T (p.His76=)
|
|
|
NM_017849.4(TMEM127):c.230del (p.Pro77fs)
|
|
|
NM_017849.4(TMEM127):c.231G>A (p.Pro77=)
|
rs1558756480
|
|
NM_017849.4(TMEM127):c.231G>C (p.Pro77=)
|
|
|
NM_017849.4(TMEM127):c.231G>T (p.Pro77=)
|
rs1558756480
|
|
NM_017849.4(TMEM127):c.233A>G (p.Asp78Gly)
|
|
|
NM_017849.4(TMEM127):c.233A>T (p.Asp78Val)
|
|
|
NM_017849.4(TMEM127):c.234C>T (p.Asp78=)
|
rs752578568
|
|
NM_017849.4(TMEM127):c.236T>G (p.Leu79Arg)
|
|
|
NM_017849.4(TMEM127):c.238C>G (p.Leu80Val)
|
rs1436382974
|
|
NM_017849.4(TMEM127):c.238C>T (p.Leu80=)
|
rs1436382974
|
|
NM_017849.4(TMEM127):c.239T>C (p.Leu80Pro)
|
|
|
NM_017849.4(TMEM127):c.244+10C>G
|
|
|
NM_017849.4(TMEM127):c.244+13C>T
|
|
|
NM_017849.4(TMEM127):c.244+14G>C
|
rs2104307098
|
|
NM_017849.4(TMEM127):c.244+15C>T
|
|
|
NM_017849.4(TMEM127):c.244+16G>C
|
|
|
NM_017849.4(TMEM127):c.244+20G>T
|
rs779488412
|
|
NM_017849.4(TMEM127):c.244+2T>C
|
|
|
NM_017849.4(TMEM127):c.244+3G>C
|
rs1472610237
|
|
NM_017849.4(TMEM127):c.244+5G>A
|
rs1684386631
|
|
NM_017849.4(TMEM127):c.244+6G>A
|
|
|
NM_017849.4(TMEM127):c.244+6G>T
|
rs1573977546
|
|
NM_017849.4(TMEM127):c.244+7G>A
|
|
|
NM_017849.4(TMEM127):c.244+7G>T
|
rs1573977543
|
|
NM_017849.4(TMEM127):c.244+8T>C
|
|
|
NM_017849.4(TMEM127):c.245-10C>G
|
rs1573970399
|
|
NM_017849.4(TMEM127):c.245-10C>T
|
|
|
NM_017849.4(TMEM127):c.245-12C>T
|
|
|
NM_017849.4(TMEM127):c.245-1567del
|
|
|
NM_017849.4(TMEM127):c.245-15G>C
|
|
|
NM_017849.4(TMEM127):c.245-16G>C
|
rs368141539
|
|
NM_017849.4(TMEM127):c.245-1G>A
|
|
|
NM_017849.4(TMEM127):c.245-1G>T
|
rs121908821
|
|
NM_017849.4(TMEM127):c.245-20A>T
|
|
|
NM_017849.4(TMEM127):c.245-21_245-20dup
|
|
|
NM_017849.4(TMEM127):c.245-258G>A
|
rs62153029
|
|
NM_017849.4(TMEM127):c.245-2A>G
|
rs2104288018
|
|
NM_017849.4(TMEM127):c.245-2del
|
|
|
NM_017849.4(TMEM127):c.245-4A>C
|
|
|
NM_017849.4(TMEM127):c.245-5T>G
|
|
|
NM_017849.4(TMEM127):c.245-6C>G
|
rs1573970396
|
|
NM_017849.4(TMEM127):c.245-7T>G
|
|
|
NM_017849.4(TMEM127):c.245A>T (p.Asp82Val)
|
|
|
NM_017849.4(TMEM127):c.248del (p.Phe83fs)
|
rs587781773
|
|
NM_017849.4(TMEM127):c.249C>A (p.Phe83Leu)
|
|
|
NM_017849.4(TMEM127):c.250T>C (p.Cys84Arg)
|
|
|
NM_017849.4(TMEM127):c.251G>C (p.Cys84Ser)
|
|
|
NM_017849.4(TMEM127):c.251G>T (p.Cys84Phe)
|
rs1684175500
|
|
NM_017849.4(TMEM127):c.252C>T (p.Cys84=)
|
|
|
NM_017849.4(TMEM127):c.253A>C (p.Met85Leu)
|
rs771261665
|
|
NM_017849.4(TMEM127):c.254T>G (p.Met85Arg)
|
|
|
NM_017849.4(TMEM127):c.257A>G (p.Asn86Ser)
|
|
|
NM_017849.4(TMEM127):c.260C>T (p.Pro87Leu)
|
|
|
NM_017849.4(TMEM127):c.261C>G (p.Pro87=)
|
rs1447112240
|
|
NM_017849.4(TMEM127):c.261C>T (p.Pro87=)
|
|
|
NM_017849.4(TMEM127):c.262C>T (p.Gln88Ter)
|
|
|
NM_017849.4(TMEM127):c.265A>G (p.Thr89Ala)
|
rs1573970344
|
|
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs)
|
rs121908822
|
|
NM_017849.4(TMEM127):c.266C>G (p.Thr89Arg)
|
rs876658430
|
|
NM_017849.4(TMEM127):c.266C>T (p.Thr89Ile)
|
rs876658430
|
|
NM_017849.4(TMEM127):c.267_268del (p.Val90fs)
|
|
|
NM_017849.4(TMEM127):c.270G>A (p.Val90=)
|
rs748896126
|
|
NM_017849.4(TMEM127):c.271C>A (p.Leu91Met)
|
rs1684174363
|
|
NM_017849.4(TMEM127):c.271C>T (p.Leu91=)
|
|
|
NM_017849.4(TMEM127):c.272T>A (p.Leu91Gln)
|
rs775019246
|
|
NM_017849.4(TMEM127):c.276C>G (p.Leu92=)
|
rs769267631
|
|
NM_017849.4(TMEM127):c.276C>T (p.Leu92=)
|
rs769267631
|
|
NM_017849.4(TMEM127):c.278T>C (p.Leu93Pro)
|
|
|
NM_017849.4(TMEM127):c.278T>G (p.Leu93Arg)
|
|
|
NM_017849.4(TMEM127):c.278_288del (p.Leu93fs)
|
|
|
NM_017849.4(TMEM127):c.280C>A (p.Arg94=)
|
rs121908824
|
|
NM_017849.4(TMEM127):c.281G>T (p.Arg94Leu)
|
rs746831347
|
|
NM_017849.4(TMEM127):c.282G>T (p.Arg94=)
|
|
|
NM_017849.4(TMEM127):c.283G>A (p.Val95Ile)
|
rs2104287727
|
|
NM_017849.4(TMEM127):c.283del (p.Val95fs)
|
rs1553437028
|
|
NM_017849.4(TMEM127):c.286A>C (p.Ile96Leu)
|
|
|
NM_017849.4(TMEM127):c.288C>T (p.Ile96=)
|
rs758726687
|
|
NM_017849.4(TMEM127):c.290C>T (p.Ala97Val)
|
|
|
NM_017849.4(TMEM127):c.291C>G (p.Ala97=)
|
rs546105756
|
|
NM_017849.4(TMEM127):c.291C>T (p.Ala97=)
|
rs546105756
|
|
NM_017849.4(TMEM127):c.291del (p.Ala98fs)
|
rs2104287651
|
|
NM_017849.4(TMEM127):c.292G>A (p.Ala98Thr)
|
rs369144563
|
|
NM_017849.4(TMEM127):c.292G>C (p.Ala98Pro)
|
rs369144563
|
|
NM_017849.4(TMEM127):c.294C>T (p.Ala98=)
|
rs1684173194
|
|
NM_017849.4(TMEM127):c.298T>A (p.Cys100Ser)
|
rs1573970265
|
|
NM_017849.4(TMEM127):c.298T>C (p.Cys100Arg)
|
rs1573970265
|
|
NM_017849.4(TMEM127):c.298_303dup (p.Phe101_Leu102insCysPhe)
|
|
|
NM_017849.4(TMEM127):c.302T>C (p.Phe101Ser)
|
|
|
NM_017849.4(TMEM127):c.303C>G (p.Phe101Leu)
|
|
|
NM_017849.4(TMEM127):c.303C>T (p.Phe101=)
|
|
|
NM_017849.4(TMEM127):c.304C>T (p.Leu102=)
|
|
|
NM_017849.4(TMEM127):c.305T>G (p.Leu102Arg)
|
|
|
NM_017849.4(TMEM127):c.307G>A (p.Gly103Ser)
|
rs2104287545
|
|
NM_017849.4(TMEM127):c.308G>A (p.Gly103Asp)
|
rs1313510506
|
|
NM_017849.4(TMEM127):c.308del (p.Gly103fs)
|
rs727503490
|
|
NM_017849.4(TMEM127):c.309C>T (p.Gly103=)
|
|
|
NM_017849.4(TMEM127):c.312C>G (p.Ile104Met)
|
rs2104287512
|
|
NM_017849.4(TMEM127):c.312C>T (p.Ile104=)
|
rs2104287512
|
|
NM_017849.4(TMEM127):c.313C>G (p.Leu105Val)
|
|
|
NM_017849.4(TMEM127):c.314T>G (p.Leu105Arg)
|
rs766918841
|
|
NM_017849.4(TMEM127):c.315G>A (p.Leu105=)
|
rs1440094325
|
|
NM_017849.4(TMEM127):c.317G>T (p.Cys106Phe)
|
|
|
NM_017849.4(TMEM127):c.321T>C (p.Ser107=)
|
rs1553437007
|
|
NM_017849.4(TMEM127):c.321T>G (p.Ser107Arg)
|
rs1553437007
|
|
NM_017849.4(TMEM127):c.323T>C (p.Leu108Pro)
|
rs1553437004
|
|
NM_017849.4(TMEM127):c.323T>G (p.Leu108Arg)
|
rs1553437004
|
|
NM_017849.4(TMEM127):c.325_326del (p.Ser109fs)
|
|
|
NM_017849.4(TMEM127):c.326C>T (p.Ser109Phe)
|
rs1684172006
|
|
NM_017849.4(TMEM127):c.327C>G (p.Ser109=)
|
rs773650718
|
|
NM_017849.4(TMEM127):c.327del (p.Ala110fs)
|
|
|
NM_017849.4(TMEM127):c.328G>C (p.Ala110Pro)
|
rs767739392
|
|
NM_017849.4(TMEM127):c.328G>T (p.Ala110Ser)
|
rs767739392
|
|
NM_017849.4(TMEM127):c.328dup (p.Ala110fs)
|
|
|
NM_017849.4(TMEM127):c.330T>A (p.Ala110=)
|
|
|
NM_017849.4(TMEM127):c.331T>C (p.Phe111Leu)
|
rs1558752478
|
|
NM_017849.4(TMEM127):c.332T>C (p.Phe111Ser)
|
|
|
NM_017849.4(TMEM127):c.332T>G (p.Phe111Cys)
|
rs2104287330
|
|
NM_017849.4(TMEM127):c.332del (p.Phe111fs)
|
|
|
NM_017849.4(TMEM127):c.335T>C (p.Leu112Pro)
|
rs1684170958
|
|
NM_017849.4(TMEM127):c.335T>G (p.Leu112Arg)
|
rs1684170958
|
|
NM_017849.4(TMEM127):c.337C>A (p.Leu113Met)
|
rs2104287288
|
|
NM_017849.4(TMEM127):c.337del (p.Leu113fs)
|
rs1558752468
|
|
NM_017849.4(TMEM127):c.338T>A (p.Leu113Gln)
|
|
|
NM_017849.4(TMEM127):c.338T>C (p.Leu113Pro)
|
|
|
NM_017849.4(TMEM127):c.338T>G (p.Leu113Arg)
|
|
|
NM_017849.4(TMEM127):c.340G>C (p.Asp114His)
|
|
|
NM_017849.4(TMEM127):c.341A>T (p.Asp114Val)
|
rs2104287263
|
|
NM_017849.4(TMEM127):c.342_343insA (p.Val115fs)
|
|
|
NM_017849.4(TMEM127):c.343G>A (p.Val115Ile)
|
rs930453941
|
|
NM_017849.4(TMEM127):c.345C>G (p.Val115=)
|
|
|
NM_017849.4(TMEM127):c.345C>T (p.Val115=)
|
|
|
NM_017849.4(TMEM127):c.347_348del (p.Phe116fs)
|
|
|
NM_017849.4(TMEM127):c.348T>A (p.Phe116Leu)
|
|
|
NM_017849.4(TMEM127):c.352C>T (p.Pro118Ser)
|
|
|
NM_017849.4(TMEM127):c.353C>A (p.Pro118Gln)
|
|
|
NM_017849.4(TMEM127):c.359A>G (p.His120Arg)
|
rs745385741
|
|
NM_017849.4(TMEM127):c.363T>C (p.Pro121=)
|
rs1684170058
|
|
NM_017849.4(TMEM127):c.364G>A (p.Ala122Thr)
|
rs1553436990
|
|
NM_017849.4(TMEM127):c.365C>T (p.Ala122Val)
|
|
|
NM_017849.4(TMEM127):c.370A>T (p.Lys124Ter)
|
rs1684169953
|
|
NM_017849.4(TMEM127):c.371A>G (p.Lys124Arg)
|
rs377430566
|
|
NM_017849.4(TMEM127):c.375C>G (p.Ile125Met)
|
|
|
NM_017849.4(TMEM127):c.375C>T (p.Ile125=)
|
rs1260610916
|
|
NM_017849.4(TMEM127):c.376A>G (p.Thr126Ala)
|
|
|
NM_017849.4(TMEM127):c.376A>T (p.Thr126Ser)
|
rs1684169726
|
|
NM_017849.4(TMEM127):c.378T>A (p.Thr126=)
|
|
|
NM_017849.4(TMEM127):c.378T>C (p.Thr126=)
|
rs770922577
|
|
NM_017849.4(TMEM127):c.378TCG[1] (p.Arg128del)
|
|
|
NM_017849.4(TMEM127):c.379C>G (p.Arg127Gly)
|
|
|
NM_017849.4(TMEM127):c.379del (p.Arg127fs)
|
|
|
NM_017849.4(TMEM127):c.380G>C (p.Arg127Pro)
|
|
|
NM_017849.4(TMEM127):c.382C>T (p.Arg128Cys)
|
rs759261535
|
|
NM_017849.4(TMEM127):c.383G>T (p.Arg128Leu)
|
rs779277417
|
|
NM_017849.4(TMEM127):c.383dup (p.Tyr129fs)
|
rs1684169157
|
|
NM_017849.4(TMEM127):c.385T>C (p.Tyr129His)
|
|
|
NM_017849.4(TMEM127):c.386A>G (p.Tyr129Cys)
|
|
|
NM_017849.4(TMEM127):c.387T>C (p.Tyr129=)
|
|
|
NM_017849.4(TMEM127):c.389C>A (p.Ala130Asp)
|
|
|
NM_017849.4(TMEM127):c.389C>T (p.Ala130Val)
|
|
|
NM_017849.4(TMEM127):c.390C>T (p.Ala130=)
|
|
|
NM_017849.4(TMEM127):c.391T>A (p.Phe131Ile)
|
rs1573970081
|
|
NM_017849.4(TMEM127):c.394G>T (p.Ala132Ser)
|
|
|
NM_017849.4(TMEM127):c.395C>T (p.Ala132Val)
|
rs1573970073
|
|
NM_017849.4(TMEM127):c.396C>T (p.Ala132=)
|
rs2104286934
|
|
NM_017849.4(TMEM127):c.397C>G (p.His133Asp)
|
|
|
NM_017849.4(TMEM127):c.397C>T (p.His133Tyr)
|
|
|
NM_017849.4(TMEM127):c.397del (p.His133fs)
|
rs1558752379
|
|
NM_017849.4(TMEM127):c.399T>C (p.His133=)
|
|
|
NM_017849.4(TMEM127):c.401T>A (p.Ile134Asn)
|
rs1573970063
|
|
NM_017849.4(TMEM127):c.401T>C (p.Ile134Thr)
|
|
|
NM_017849.4(TMEM127):c.402C>A (p.Ile134=)
|
rs1553436974
|
|
NM_017849.4(TMEM127):c.403C>A (p.Leu135Ile)
|
rs751854293
|
|
NM_017849.4(TMEM127):c.404T>C (p.Leu135Pro)
|
rs1347547225
|
|
NM_017849.4(TMEM127):c.408G>A (p.Thr136=)
|
rs143522428
|
|
NM_017849.4(TMEM127):c.408G>C (p.Thr136=)
|
rs143522428
|
|
NM_017849.4(TMEM127):c.409+11A>G
|
|
|
NM_017849.4(TMEM127):c.409+12G>A
|
|
|
NM_017849.4(TMEM127):c.409+16G>A
|
|
|
NM_017849.4(TMEM127):c.409+17C>G
|
|
|
NM_017849.4(TMEM127):c.409+1G>C
|
rs121908825
|
|
NM_017849.4(TMEM127):c.409+1G>T
|
rs121908825
|
|
NM_017849.4(TMEM127):c.409+1_409+8del
|
|
|
NM_017849.4(TMEM127):c.409+20A>G
|
rs1553436966
|
|
NM_017849.4(TMEM127):c.409+5G>A
|
|
|
NM_017849.4(TMEM127):c.409+8G>C
|
rs749887924
|
|
NM_017849.4(TMEM127):c.409+9T>C
|
rs1573970006
|
|
NM_017849.4(TMEM127):c.410-10del
|
rs1437132124
|
|
NM_017849.4(TMEM127):c.410-11_410-10del
|
|
|
NM_017849.4(TMEM127):c.410-12T>C
|
|
|
NM_017849.4(TMEM127):c.410-13C>T
|
rs2104285437
|
|
NM_017849.4(TMEM127):c.410-14C>T
|
rs1182765406
|
|
NM_017849.4(TMEM127):c.410-14_410-13dup
|
|
|
NM_017849.4(TMEM127):c.410-18del
|
rs1444758693
|
|
NM_017849.4(TMEM127):c.410-19C>T
|
|
|
NM_017849.4(TMEM127):c.410-1G>C
|
|
|
NM_017849.4(TMEM127):c.410-265_625del
|
rs2104283392
|
|
NM_017849.4(TMEM127):c.410-2A>C
|
rs121908826
|
|
NM_017849.4(TMEM127):c.410-2A>G
|
rs121908826
|
|
NM_017849.4(TMEM127):c.410-4C>G
|
|
|
NM_017849.4(TMEM127):c.410-6T>A
|
|
|
NM_017849.4(TMEM127):c.410-9G>A
|
|
|
NM_017849.4(TMEM127):c.412C>G (p.Leu138Val)
|
rs1684153047
|
|
NM_017849.4(TMEM127):c.414G>A (p.Leu138=)
|
|
|
NM_017849.4(TMEM127):c.414G>T (p.Leu138=)
|
rs2104285371
|
|
NM_017849.4(TMEM127):c.415C>T (p.Gln139Ter)
|
|
|
NM_017849.4(TMEM127):c.416A>G (p.Gln139Arg)
|
|
|
NM_017849.4(TMEM127):c.418T>A (p.Cys140Ser)
|
|
|
NM_017849.4(TMEM127):c.418T>C (p.Cys140Arg)
|
rs121908827
|
|
NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr)
|
rs121908828
|
|
NM_017849.4(TMEM127):c.424A>G (p.Thr142Ala)
|
|
|
NM_017849.4(TMEM127):c.425C>A (p.Thr142Asn)
|
|
|
NM_017849.4(TMEM127):c.430A>T (p.Ile144Phe)
|
rs896909534
|
|
NM_017849.4(TMEM127):c.431T>C (p.Ile144Thr)
|
rs1036821113
|
|
NM_017849.4(TMEM127):c.432T>C (p.Ile144=)
|
|
|
NM_017849.4(TMEM127):c.433G>A (p.Gly145Ser)
|
|
|
NM_017849.4(TMEM127):c.434G>C (p.Gly145Ala)
|
|
|
NM_017849.4(TMEM127):c.438_442del (p.Phe146fs)
|
|
|
NM_017849.4(TMEM127):c.443A>T (p.Tyr148Phe)
|
rs1684152230
|
|
NM_017849.4(TMEM127):c.446G>C (p.Trp149Ser)
|
|
|
NM_017849.4(TMEM127):c.447G>A (p.Trp149Ter)
|
rs121908829
|
|
NM_017849.4(TMEM127):c.448G>C (p.Ala150Pro)
|
|
|
NM_017849.4(TMEM127):c.449C>A (p.Ala150Asp)
|
|
|
NM_017849.4(TMEM127):c.449C>T (p.Ala150Val)
|
|
|
NM_017849.4(TMEM127):c.450T>G (p.Ala150=)
|
rs2104285217
|
|
NM_017849.4(TMEM127):c.451T>G (p.Ser151Ala)
|
|
|
NM_017849.4(TMEM127):c.453T>C (p.Ser151=)
|
|
|
NM_017849.4(TMEM127):c.456A>G (p.Glu152=)
|
rs1573969367
|
|
NM_017849.4(TMEM127):c.459C>T (p.Leu153=)
|
|
|
NM_017849.4(TMEM127):c.463T>C (p.Leu155=)
|
rs2104285151
|
|
NM_017849.4(TMEM127):c.466G>C (p.Ala156Pro)
|
|
|
NM_017849.4(TMEM127):c.468C>T (p.Ala156=)
|
rs749579854
|
|
NM_017849.4(TMEM127):c.470A>C (p.Gln157Pro)
|
|
|
NM_017849.4(TMEM127):c.471G>T (p.Gln157His)
|
rs2104285097
|
|
NM_017849.4(TMEM127):c.471GCA[5] (p.Gln160dup)
|
rs777748763
|
|
NM_017849.4(TMEM127):c.472C>A (p.Gln158Lys)
|
rs769988721
|
|
NM_017849.4(TMEM127):c.472C>G (p.Gln158Glu)
|
rs769988721
|
|
NM_017849.4(TMEM127):c.473A>G (p.Gln158Arg)
|
rs1231103743
|
|
NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter)
|
rs121908830
|
|
NM_017849.4(TMEM127):c.478C>T (p.Gln160Ter)
|
rs1573969322
|
|
NM_017849.4(TMEM127):c.482A>G (p.His161Arg)
|
rs778839133
|
|
NM_017849.4(TMEM127):c.483_487delinsGCATAAGT (p.His161_Lys163delinsGlnHisLysTer)
|
|
|
NM_017849.4(TMEM127):c.484A>C (p.Lys162Gln)
|
|
|
NM_017849.4(TMEM127):c.490T>C (p.Tyr164His)
|
rs1553436892
|
|
NM_017849.4(TMEM127):c.492C>T (p.Tyr164=)
|
|
|
NM_017849.4(TMEM127):c.495T>C (p.His165=)
|
|
|
NM_017849.4(TMEM127):c.496G>A (p.Gly166Arg)
|
rs372120755
|
|
NM_017849.4(TMEM127):c.500C>T (p.Ser167Phe)
|
rs994504317
|
|
NM_017849.4(TMEM127):c.501C>G (p.Ser167=)
|
rs1269059052
|
|
NM_017849.4(TMEM127):c.501C>T (p.Ser167=)
|
rs1269059052
|
|
NM_017849.4(TMEM127):c.504G>C (p.Gln168His)
|
|
|
NM_017849.4(TMEM127):c.507C>A (p.Val169=)
|
rs1573969264
|
|
NM_017849.4(TMEM127):c.507C>G (p.Val169=)
|
rs1573969264
|
|
NM_017849.4(TMEM127):c.509A>G (p.Tyr170Cys)
|
|
|
NM_017849.4(TMEM127):c.511G>C (p.Val171Leu)
|
|
|
NM_017849.4(TMEM127):c.512delinsGCC (p.Val171fs)
|
rs1684149620
|
|
NM_017849.4(TMEM127):c.515C>T (p.Thr172Ile)
|
|
|
NM_017849.4(TMEM127):c.516C>T (p.Thr172=)
|
|
|
NM_017849.4(TMEM127):c.518T>G (p.Phe173Cys)
|
rs1684149438
|
|
NM_017849.4(TMEM127):c.519C>A (p.Phe173Leu)
|
rs758676810
|
|
NM_017849.4(TMEM127):c.523G>C (p.Val175Leu)
|
rs149034651
|
|
NM_017849.4(TMEM127):c.523G>T (p.Val175Phe)
|
rs149034651
|
|
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly)
|
rs1553436876
|
|
NM_017849.4(TMEM127):c.527G>T (p.Ser176Ile)
|
rs2104284475
|
|
NM_017849.4(TMEM127):c.529T>G (p.Phe177Val)
|
|
|
NM_017849.4(TMEM127):c.530del (p.Phe177fs)
|
rs1684148846
|
|
NM_017849.4(TMEM127):c.532dup (p.Tyr178fs)
|
rs1553436874
|
|
NM_017849.4(TMEM127):c.536T>C (p.Leu179Pro)
|
rs1390368617
|
|
NM_017849.4(TMEM127):c.538G>T (p.Val180Leu)
|
rs767100341
|
|
NM_017849.4(TMEM127):c.539T>C (p.Val180Ala)
|
|
|
NM_017849.4(TMEM127):c.539dup (p.Ala181fs)
|
|
|
NM_017849.4(TMEM127):c.541dup (p.Ala181fs)
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NM_017849.4(TMEM127):c.542_554del (p.Ala181fs)
|
rs1684147771
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NM_017849.4(TMEM127):c.543A>G (p.Ala181=)
|
rs2104284290
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NM_017849.4(TMEM127):c.545G>C (p.Gly182Ala)
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rs761885719
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NM_017849.4(TMEM127):c.549T>C (p.Ala183=)
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NM_017849.4(TMEM127):c.549_572dup (p.Thr191_Ala192insGlyGlyAlaSerIleLeuAlaThr)
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NM_017849.4(TMEM127):c.550G>A (p.Gly184Ser)
|
rs1060500597
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NM_017849.4(TMEM127):c.550G>C (p.Gly184Arg)
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rs1060500597
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NM_017849.4(TMEM127):c.551G>T (p.Gly184Val)
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NM_017849.4(TMEM127):c.552T>A (p.Gly184=)
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NM_017849.4(TMEM127):c.553G>A (p.Gly185Arg)
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rs1553436865
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NM_017849.4(TMEM127):c.554G>A (p.Gly185Glu)
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NM_017849.4(TMEM127):c.555A>C (p.Gly185=)
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rs2104284151
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NM_017849.4(TMEM127):c.556G>A (p.Ala186Thr)
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NM_017849.4(TMEM127):c.556G>T (p.Ala186Ser)
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NM_017849.4(TMEM127):c.559T>C (p.Ser187Pro)
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NM_017849.4(TMEM127):c.560C>G (p.Ser187Ter)
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NM_017849.4(TMEM127):c.560C>T (p.Ser187Leu)
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rs1684147520
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NM_017849.4(TMEM127):c.561A>G (p.Ser187=)
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NM_017849.4(TMEM127):c.564C>A (p.Ile188=)
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NM_017849.4(TMEM127):c.564C>T (p.Ile188=)
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rs536921173
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NM_017849.4(TMEM127):c.565C>G (p.Leu189Val)
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rs146965678
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NM_017849.4(TMEM127):c.566T>C (p.Leu189Pro)
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NM_017849.4(TMEM127):c.567G>A (p.Leu189=)
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rs776732082
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NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr)
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rs373781978
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NM_017849.4(TMEM127):c.569C>A (p.Ala190Asp)
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NM_017849.4(TMEM127):c.569C>G (p.Ala190Gly)
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rs2104284000
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NM_017849.4(TMEM127):c.569C>T (p.Ala190Val)
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NM_017849.4(TMEM127):c.570C>T (p.Ala190=)
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rs1553436857
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NM_017849.4(TMEM127):c.570del (p.Thr191fs)
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rs1215337884
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NM_017849.4(TMEM127):c.574G>T (p.Ala192Ser)
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NM_017849.4(TMEM127):c.575C>T (p.Ala192Val)
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NM_017849.4(TMEM127):c.577G>A (p.Ala193Thr)
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NM_017849.4(TMEM127):c.582C>T (p.Asn194=)
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rs2104283819
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NM_017849.4(TMEM127):c.583C>T (p.Leu195Phe)
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rs2104283802
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NM_017849.4(TMEM127):c.584T>C (p.Leu195Pro)
|
rs1573969123
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NM_017849.4(TMEM127):c.584T>G (p.Leu195Arg)
|
rs1573969123
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NM_017849.4(TMEM127):c.586C>T (p.Leu196=)
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NM_017849.4(TMEM127):c.587T>G (p.Leu196Arg)
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rs1684146217
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NM_017849.4(TMEM127):c.588G>A (p.Leu196=)
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rs1684146150
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NM_017849.4(TMEM127):c.591C>T (p.Arg197=)
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|
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NM_017849.4(TMEM127):c.593A>G (p.His198Arg)
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NM_017849.4(TMEM127):c.594C>G (p.His198Gln)
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NM_017849.4(TMEM127):c.596A>T (p.Tyr199Phe)
|
rs1573969106
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NM_017849.4(TMEM127):c.597C>A (p.Tyr199Ter)
|
rs1684145823
|
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NM_017849.4(TMEM127):c.597C>T (p.Tyr199=)
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|
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NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr)
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rs200351681
|
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NM_017849.4(TMEM127):c.598C>T (p.Pro200Ser)
|
rs200351681
|
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NM_017849.4(TMEM127):c.600C>A (p.Pro200=)
|
rs1060503974
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NM_017849.4(TMEM127):c.601A>G (p.Thr201Ala)
|
rs1684144587
|
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NM_017849.4(TMEM127):c.601A>T (p.Thr201Ser)
|
rs1684144587
|
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NM_017849.4(TMEM127):c.603A>C (p.Thr201=)
|
rs1270359170
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NM_017849.4(TMEM127):c.604G>A (p.Glu202Lys)
|
rs1429621198
|
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NM_017849.4(TMEM127):c.605A>G (p.Glu202Gly)
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|
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NM_017849.4(TMEM127):c.607G>A (p.Glu203Lys)
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rs2104283542
|
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NM_017849.4(TMEM127):c.608A>C (p.Glu203Ala)
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|
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NM_017849.4(TMEM127):c.609A>G (p.Glu203=)
|
rs750072653
|
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NM_017849.4(TMEM127):c.610G>A (p.Glu204Lys)
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|
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NM_017849.4(TMEM127):c.612G>C (p.Glu204Asp)
|
rs1684144140
|
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NM_017849.4(TMEM127):c.613G>A (p.Glu205Lys)
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|
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NM_017849.4(TMEM127):c.613G>T (p.Glu205Ter)
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NM_017849.4(TMEM127):c.613del (p.Glu205fs)
|
rs1684144086
|
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NM_017849.4(TMEM127):c.615G>A (p.Glu205=)
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|
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NM_017849.4(TMEM127):c.616C>T (p.Gln206Ter)
|
rs1684143889
|
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NM_017849.4(TMEM127):c.618G>A (p.Gln206=)
|
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NM_017849.4(TMEM127):c.621G>C (p.Ala207=)
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NM_017849.4(TMEM127):c.624G>A (p.Leu208=)
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|
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NM_017849.4(TMEM127):c.626A>T (p.Glu209Val)
|
rs1285100095
|
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NM_017849.4(TMEM127):c.627G>A (p.Glu209=)
|
rs2104283355
|
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NM_017849.4(TMEM127):c.627_640dup (p.Met214fs)
|
rs121908831
|
|
NM_017849.4(TMEM127):c.630G>A (p.Leu210=)
|
rs1573969028
|
|
NM_017849.4(TMEM127):c.630G>C (p.Leu210=)
|
|
|
NM_017849.4(TMEM127):c.630G>T (p.Leu210=)
|
|
|
NM_017849.4(TMEM127):c.633C>G (p.Leu211=)
|
rs368792184
|
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NM_017849.4(TMEM127):c.634T>C (p.Ser212Pro)
|
rs775177724
|
|
NM_017849.4(TMEM127):c.636A>G (p.Ser212=)
|
rs1573969010
|
|
NM_017849.4(TMEM127):c.637G>A (p.Glu213Lys)
|
|
|
NM_017849.4(TMEM127):c.638A>T (p.Glu213Val)
|
|
|
NM_017849.4(TMEM127):c.643G>A (p.Glu215Lys)
|
|
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NM_017849.4(TMEM127):c.643G>C (p.Glu215Gln)
|
|
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NM_017849.4(TMEM127):c.644A>G (p.Glu215Gly)
|
rs1573968995
|
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NM_017849.4(TMEM127):c.646G>A (p.Glu216Lys)
|
|
|
NM_017849.4(TMEM127):c.648_649dup (p.Asn217fs)
|
rs2104283140
|
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NM_017849.4(TMEM127):c.652G>A (p.Glu218Lys)
|
rs746291260
|
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NM_017849.4(TMEM127):c.656C>A (p.Pro219His)
|
rs1684141855
|
|
NM_017849.4(TMEM127):c.656C>G (p.Pro219Arg)
|
rs1684141855
|
|
NM_017849.4(TMEM127):c.659A>G (p.Tyr220Cys)
|
rs2104283046
|
|
NM_017849.4(TMEM127):c.661C>G (p.Pro221Ala)
|
|
|
NM_017849.4(TMEM127):c.664G>A (p.Ala222Thr)
|
|
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NM_017849.4(TMEM127):c.664G>T (p.Ala222Ser)
|
|
|
NM_017849.4(TMEM127):c.665C>G (p.Ala222Gly)
|
|
|
NM_017849.4(TMEM127):c.667G>A (p.Glu223Lys)
|
rs779910556
|
|
NM_017849.4(TMEM127):c.669A>G (p.Glu223=)
|
|
|
NM_017849.4(TMEM127):c.669A>T (p.Glu223Asp)
|
rs1431574710
|
|
NM_017849.4(TMEM127):c.671A>G (p.Tyr224Cys)
|
rs1060500598
|
|
NM_017849.4(TMEM127):c.673G>A (p.Glu225Lys)
|
|
|
NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly)
|
rs1684140913
|
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NM_017849.4(TMEM127):c.674del (p.Glu225fs)
|
rs2104282864
|
|
NM_017849.4(TMEM127):c.675G>A (p.Glu225=)
|
|
|
NM_017849.4(TMEM127):c.675G>C (p.Glu225Asp)
|
rs779189359
|
|
NM_017849.4(TMEM127):c.677T>C (p.Val226Ala)
|
|
|
NM_017849.4(TMEM127):c.678C>A (p.Val226=)
|
|
|
NM_017849.4(TMEM127):c.679A>G (p.Ile227Val)
|
|
|
NM_017849.4(TMEM127):c.679A>T (p.Ile227Phe)
|
rs1684140655
|
|
NM_017849.4(TMEM127):c.683A>G (p.Asn228Ser)
|
|
|
NM_017849.4(TMEM127):c.684C>T (p.Asn228=)
|
|
|
NM_017849.4(TMEM127):c.685C>A (p.Gln229Lys)
|
|
|
NM_017849.4(TMEM127):c.690C>G (p.Phe230Leu)
|
rs1684140585
|
|
NM_017849.4(TMEM127):c.690C>T (p.Phe230=)
|
rs1684140585
|
|
NM_017849.4(TMEM127):c.694C>T (p.Pro232Ser)
|
rs1684140382
|
|
NM_017849.4(TMEM127):c.695C>A (p.Pro232Gln)
|
|
|
NM_017849.4(TMEM127):c.697C>T (p.Pro233Ser)
|
|
|
NM_017849.4(TMEM127):c.698C>A (p.Pro233His)
|
|
|
NM_017849.4(TMEM127):c.699C>G (p.Pro233=)
|
|
|
NM_017849.4(TMEM127):c.700C>G (p.Pro234Ala)
|
rs780992481
|
|
NM_017849.4(TMEM127):c.700C>T (p.Pro234Ser)
|
|
|
NM_017849.4(TMEM127):c.701dup (p.Ala235fs)
|
|
|
NM_017849.4(TMEM127):c.702del (p.Ala235fs)
|
rs2104282584
|
|
NM_017849.4(TMEM127):c.703G>C (p.Ala235Pro)
|
|
|
NM_017849.4(TMEM127):c.708C>G (p.Tyr236Ter)
|
|
|
NM_017849.4(TMEM127):c.708C>T (p.Tyr236=)
|
rs2104282548
|
|
NM_017849.4(TMEM127):c.710C>T (p.Thr237Ile)
|
|
|
NM_017849.4(TMEM127):c.711A>G (p.Thr237=)
|
rs2104282530
|
|
NM_017849.4(TMEM127):c.712C>T (p.Pro238Ser)
|
rs1184921725
|
|
NM_017849.4(TMEM127):c.713C>T (p.Pro238Leu)
|
|
|
NM_017849.4(TMEM127):c.714C>T (p.Pro238=)
|
|
|
NM_017849.4(TMEM127):c.715T>A (p.Ter239Lys)
|
|
|
NM_017849.4(TMEM127):c.717A>C (p.Ter239Tyr)
|
|
|