ClinVar Miner

List of variants in gene RTTN

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Gene type:
ClinVar version:
Total variants: 1163
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HGVS dbSNP gnomAD frequency
NM_173630.4(RTTN):c.1930-77G>A rs12604751 0.99196
NM_173630.4(RTTN):c.2309+231C>T rs9807719 0.99171
NM_173630.4(RTTN):c.1008-294A>G rs283247 0.95463
NM_173630.4(RTTN):c.2885+170A>G rs4891814 0.95457
NM_173630.4(RTTN):c.842-30A>G rs283250 0.94865
NM_173630.4(RTTN):c.4940+83T>A rs1435086 0.91324
NM_173630.4(RTTN):c.6596-273A>G rs7241642 0.90930
NM_173630.4(RTTN):c.2055+100A>G rs12606964 0.84173
NM_173630.4(RTTN):c.6596-184G>A rs10871658 0.83996
NM_173630.4(RTTN):c.4303-228G>A rs1461425 0.81986
NM_173630.4(RTTN):c.2309+948C>T rs12458200 0.81972
NM_173630.4(RTTN):c.2482-238T>C rs11659217 0.81443
NM_173630.4(RTTN):c.2482-24T>G rs11665653 0.80619
NM_173630.4(RTTN):c.2309+1220A>G rs11151571 0.80249
NM_173630.4(RTTN):c.1930-97A>G rs12607032 0.80246
NM_173630.4(RTTN):c.6595+295A>G rs12968403 0.79752
NM_173630.4(RTTN):c.5282T>C (p.Phe1761Ser) rs4891392 0.79319
NM_173630.4(RTTN):c.4565-79C>T rs1369293 0.79318
NM_173630.4(RTTN):c.5032-231T>G rs8099717 0.78129
NM_173630.4(RTTN):c.6154-97G>A rs7244421 0.76521
NM_173630.4(RTTN):c.5031+176T>C rs12968602 0.75200
NM_173630.4(RTTN):c.6526-248A>G rs11151554 0.74320
NM_173630.4(RTTN):c.376T>G (p.Ser126Ala) rs3911730 0.73528
NM_173630.4(RTTN):c.4654-76A>T rs11151561 0.73170
NM_173630.4(RTTN):c.4653+25C>T rs1369292 0.73057
NM_173630.4(RTTN):c.2309+1021G>A rs11151572 0.70971
NM_173630.4(RTTN):c.2481+75C>T rs11662011 0.70949
NM_173630.4(RTTN):c.4565-260C>G rs12965140 0.70896
NM_173630.4(RTTN):c.1189+296A>T rs12964801 0.70810
NM_173630.4(RTTN):c.734A>G (p.Lys245Arg) rs17082206 0.40022
NM_173630.4(RTTN):c.6144A>G (p.Val2048=) rs2304378 0.16509
NM_173630.4(RTTN):c.4941-230G>A rs17082031 0.14352
NM_173630.4(RTTN):c.2788+318T>C rs73466795 0.10714
NM_173630.4(RTTN):c.397+94C>T rs283254 0.10581
NM_173630.4(RTTN):c.398-168A>G rs283252 0.10320
NM_173630.4(RTTN):c.487+117T>C rs12326995 0.09803
NM_173630.4(RTTN):c.1007+205G>A rs4891822 0.08908
NM_173630.4(RTTN):c.1929+325G>A rs8092060 0.08208
NM_173630.4(RTTN):c.31+86G>A rs283230 0.07437
NM_173630.3(RTTN):c.-107C>T rs73966851 0.07383
NM_173630.4(RTTN):c.3528+193A>G rs17807127 0.06991
NM_173630.4(RTTN):c.*93G>A rs7998 0.06736
NM_173630.4(RTTN):c.4748-70A>G rs73964489 0.06122
NM_173630.4(RTTN):c.-19T>G rs77804861 0.04363
NM_173630.4(RTTN):c.5185+86T>A rs17082022 0.03917
NM_173630.4(RTTN):c.4748-210T>A rs73964490 0.03839
NM_173630.4(RTTN):c.2309+250C>T rs58031757 0.03722
NM_173630.4(RTTN):c.6153+206T>C rs73970816 0.03376
NM_173630.4(RTTN):c.4748-53T>A rs17082041 0.03370
NM_173630.4(RTTN):c.4941-71T>G rs73964486 0.03361
NM_173630.4(RTTN):c.3144-274G>A rs73966803 0.03069
NM_173630.4(RTTN):c.5950+37A>C rs73970818 0.03008
NM_173630.4(RTTN):c.4941-140A>G rs73964487 0.02902
NM_173630.4(RTTN):c.6154-119A>G rs73970813 0.02901
NM_173630.4(RTTN):c.4940+7G>A rs17082039 0.02895
NM_173630.4(RTTN):c.2309+190C>T rs9807720 0.02716
NM_173630.4(RTTN):c.579-339A>G rs17082209 0.02455
NM_173630.4(RTTN):c.3144-177A>G rs28370305 0.02309
NM_173630.4(RTTN):c.2482-25G>T rs376523644 0.02237
NM_173630.4(RTTN):c.3903+220T>C rs768138 0.02186
NM_173630.4(RTTN):c.3684-109A>G rs76378532 0.02140
NM_173630.4(RTTN):c.4748-5A>G rs28495061 0.02113
NM_173630.4(RTTN):c.2954+233A>G rs76263777 0.02106
NM_173630.4(RTTN):c.4564+209T>G rs75137056 0.02106
NM_173630.4(RTTN):c.220-12T>C rs11873759 0.02102
NM_173630.4(RTTN):c.220-261A>G rs11877021 0.02098
NM_173630.4(RTTN):c.5746-277C>A rs116454025 0.02095
NM_173630.4(RTTN):c.3384-226C>G rs74999746 0.02084
NM_173630.4(RTTN):c.4302+112C>T rs17232744 0.02056
NM_173630.4(RTTN):c.2856A>G (p.Leu952=) rs35139926 0.02051
NM_173630.4(RTTN):c.5950+138G>A rs17081993 0.02051
NM_173630.4(RTTN):c.578+15G>A rs17808334 0.02041
NM_173630.4(RTTN):c.3384-303G>C rs17233212 0.02039
NM_173630.4(RTTN):c.398-257C>T rs3851131 0.01999
NM_173630.4(RTTN):c.2173-289C>T rs74679198 0.01951
NM_173630.4(RTTN):c.5542-88C>G rs73970822 0.01820
NM_173630.4(RTTN):c.6422-329T>C rs60115813 0.01815
NM_173630.4(RTTN):c.5824-139G>A rs73970819 0.01813
NM_173630.4(RTTN):c.4653+205C>T rs78532798 0.01796
NM_173630.4(RTTN):c.2886-299A>G rs73966805 0.01788
NM_173630.4(RTTN):c.578+115T>A rs59021833 0.01780
NM_173630.4(RTTN):c.4375-89T>C rs115381997 0.01767
NM_173630.4(RTTN):c.2886-184C>T rs147260916 0.01739
NM_173630.4(RTTN):c.1930-273A>G rs113475449 0.01716
NM_173630.4(RTTN):c.2055+7C>T rs117843366 0.01697
NM_173630.4(RTTN):c.2310-226A>G rs76494284 0.01586
NM_173630.4(RTTN):c.6154-215A>T rs17081972 0.01567
NM_173630.4(RTTN):c.4850T>C (p.Met1617Thr) rs35409908 0.01493
NM_173630.4(RTTN):c.2886-9A>G rs75225724 0.01465
NM_173630.4(RTTN):c.220-34A>G rs113341500 0.01299
NM_173630.4(RTTN):c.487+220G>A rs118090440 0.01241
NM_173630.4(RTTN):c.4654-175A>T rs74989897 0.01190
NM_173630.4(RTTN):c.1665C>A (p.Asn555Lys) rs34353615 0.01182
NM_173630.4(RTTN):c.1842A>G (p.Glu614=) rs140245773 0.01182
NM_173630.4(RTTN):c.5060C>G (p.Ser1687Cys) rs34717557 0.01180
NM_173630.4(RTTN):c.1008-4G>T rs151203272 0.01176
NM_173630.4(RTTN):c.398-221A>C rs149769355 0.01175
NM_173630.4(RTTN):c.6525+325C>G rs79010619 0.01112
NM_173630.4(RTTN):c.5951-57T>C rs150783273 0.01098
NM_173630.4(RTTN):c.2815A>G (p.Ser939Gly) rs114399480 0.01040
NM_173630.4(RTTN):c.694-19C>T rs73966831 0.00999
NM_173630.4(RTTN):c.1803-320G>A rs116391038 0.00990
NM_173630.4(RTTN):c.5647+100del rs148044924 0.00975
NM_173630.4(RTTN):c.6595+221T>C rs150138947 0.00946
NM_173630.4(RTTN):c.2481+166dup rs202065572 0.00917
NM_173630.4(RTTN):c.1690-305C>T rs141377528 0.00892
NM_173630.4(RTTN):c.2310-206A>C rs141390999 0.00887
NM_173630.4(RTTN):c.6526-221A>G rs138797734 0.00847
NM_173630.4(RTTN):c.841+11T>C rs114480216 0.00778
NM_173630.4(RTTN):c.1008-137C>T rs115425050 0.00776
NM_173630.4(RTTN):c.1929+3G>A rs75464253 0.00767
NM_173630.4(RTTN):c.32-3C>T rs75577820 0.00750
NM_173630.4(RTTN):c.5745+13G>T rs144392822 0.00745
NM_173630.4(RTTN):c.3143+211G>A rs79547006 0.00737
NM_173630.4(RTTN):c.5648-124A>G rs116226189 0.00737
NM_173630.4(RTTN):c.1690-228G>C rs114076061 0.00731
NM_173630.4(RTTN):c.6525+151C>A rs73970810 0.00726
NM_173630.4(RTTN):c.4374+116G>A rs13381186 0.00718
NM_173630.4(RTTN):c.2582-291A>G rs74983640 0.00713
NM_173630.4(RTTN):c.2309+240T>C rs150941646 0.00684
NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr) rs34989098 0.00624
NM_173630.4(RTTN):c.6421+158C>G rs186533402 0.00613
NM_173630.4(RTTN):c.4565-148T>A rs541151394 0.00606
NM_173630.4(RTTN):c.1803-241A>C rs73966815 0.00597
NM_173630.4(RTTN):c.6015C>T (p.Ala2005=) rs117183725 0.00590
NM_173630.4(RTTN):c.841+160G>A rs114476702 0.00588
NM_173630.4(RTTN):c.1921A>G (p.Ile641Val) rs117502718 0.00584
NM_173630.4(RTTN):c.4303-159C>T rs74906380 0.00583
NM_173630.4(RTTN):c.1929+87T>G rs79820873 0.00564
NM_173630.4(RTTN):c.2466A>G (p.Arg822=) rs115470168 0.00564
NM_173630.4(RTTN):c.3903+241G>A rs115590724 0.00563
NM_173630.4(RTTN):c.488-185A>G rs146893606 0.00558
NM_173630.4(RTTN):c.6595+138A>G rs115029214 0.00556
NM_173630.4(RTTN):c.3581A>G (p.Glu1194Gly) rs34533087 0.00548
NM_173630.4(RTTN):c.579-139A>G rs116599744 0.00547
NM_173630.4(RTTN):c.694-9T>G rs150733272 0.00547
NM_173630.4(RTTN):c.3762G>A (p.Ala1254=) rs114459491 0.00545
NM_173630.4(RTTN):c.4654-51T>G rs114066125 0.00543
NM_173630.4(RTTN):c.183G>A (p.Lys61=) rs34922729 0.00541
NM_173630.4(RTTN):c.2582-277G>A rs76112951 0.00541
NM_173630.4(RTTN):c.5647+16C>T rs114315958 0.00541
NM_173630.4(RTTN):c.3904-49T>A rs116195581 0.00537
NM_173630.4(RTTN):c.1306-205T>A rs187658749 0.00536
NM_173630.4(RTTN):c.5648-87C>G rs115926328 0.00534
NM_173630.4(RTTN):c.1008-130G>A rs80320654 0.00533
NM_173630.4(RTTN):c.1189+56G>A rs77842988 0.00533
NM_173630.4(RTTN):c.693+90A>T rs115744565 0.00533
NM_173630.4(RTTN):c.693+143A>G rs74573462 0.00532
NM_173630.4(RTTN):c.6038G>T (p.Cys2013Phe) rs145976466 0.00528
NM_173630.4(RTTN):c.6636T>C (p.Tyr2212=) rs35558429 0.00497
NM_173630.4(RTTN):c.227C>T (p.Pro76Leu) rs114765225 0.00496
NM_173630.4(RTTN):c.5225A>G (p.His1742Arg) rs285227 0.00496
NM_173630.4(RTTN):c.4992G>C (p.Leu1664=) rs34041767 0.00492
NM_173630.4(RTTN):c.5323+303A>G rs150562794 0.00480
NM_173630.4(RTTN):c.3903+262G>A rs116279002 0.00475
NM_173630.4(RTTN):c.5991T>C (p.Pro1997=) rs34749812 0.00449
NM_173630.4(RTTN):c.2309+12G>A rs144279235 0.00433
NM_173630.4(RTTN):c.2788+317A>G rs139342442 0.00412
NM_173630.4(RTTN):c.5185+27T>C rs115817045 0.00401
NM_173630.4(RTTN):c.2055+133T>C rs78448243 0.00389
NM_173630.4(RTTN):c.4889G>C (p.Arg1630Thr) rs182595458 0.00389
NM_173630.4(RTTN):c.4032+223C>G rs142434780 0.00354
NM_173630.4(RTTN):c.635A>C (p.Asp212Ala) rs12956068 0.00334
NM_173630.4(RTTN):c.397+134G>T rs78355766 0.00321
NM_173630.4(RTTN):c.1458G>A (p.Thr486=) rs115686638 0.00314
NM_173630.4(RTTN):c.5323+46C>T rs78515288 0.00314
NM_173630.4(RTTN):c.694-273C>T rs115043430 0.00314
NM_173630.4(RTTN):c.3143+44T>C rs114887246 0.00309
NM_173630.4(RTTN):c.5823+118C>T rs117339348 0.00298
NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp) rs35374168 0.00275
NM_173630.4(RTTN):c.2954+106A>G rs78075144 0.00258
NM_173630.4(RTTN):c.2990C>T (p.Ala997Val) rs143471549 0.00255
NM_173630.4(RTTN):c.4303-8A>G rs199597732 0.00230
NM_173630.4(RTTN):c.3338G>A (p.Cys1113Tyr) rs117774280 0.00217
NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met) rs62089120 0.00216
NM_173630.4(RTTN):c.5212C>T (p.His1738Tyr) rs35068710 0.00210
NM_173630.4(RTTN):c.5280G>A (p.Pro1760=) rs186543005 0.00198
NM_173630.4(RTTN):c.1330G>A (p.Gly444Arg) rs199780405 0.00192
NM_173630.4(RTTN):c.5883G>A (p.Leu1961=) rs35313369 0.00185
NM_173630.4(RTTN):c.3048G>A (p.Pro1016=) rs149233888 0.00176
NM_173630.4(RTTN):c.739C>T (p.Arg247Cys) rs199691416 0.00172
NM_173630.4(RTTN):c.2804A>G (p.His935Arg) rs145832674 0.00164
NM_173630.4(RTTN):c.4303-50C>T rs547433762 0.00164
NM_173630.4(RTTN):c.3003C>T (p.Tyr1001=) rs200031043 0.00156
NM_173630.4(RTTN):c.1563T>C (p.Ile521=) rs200975487 0.00148
NM_173630.4(RTTN):c.4308A>G (p.Ala1436=) rs200315704 0.00115
NM_173630.4(RTTN):c.885A>G (p.Ala295=) rs148445363 0.00111
NM_173630.4(RTTN):c.805T>C (p.Phe269Leu) rs141156594 0.00096
NM_173630.4(RTTN):c.841+26C>T rs201108414 0.00086
NM_173630.4(RTTN):c.1929+18C>T rs188436697 0.00085
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile) rs113536228 0.00082
NM_173630.4(RTTN):c.1221A>G (p.Glu407=) rs112327299 0.00081
NM_173630.4(RTTN):c.4615G>A (p.Asp1539Asn) rs201473797 0.00079
NM_173630.4(RTTN):c.1766C>T (p.Pro589Leu) rs199910005 0.00072
NM_173630.4(RTTN):c.6189G>T (p.Leu2063Phe) rs77798966 0.00067
NM_173630.4(RTTN):c.4748-7A>G rs141673274 0.00063
NM_173630.4(RTTN):c.630G>C (p.Leu210Phe) rs201538332 0.00063
NM_173630.4(RTTN):c.2568T>A (p.Ala856=) rs370998068 0.00061
NM_173630.4(RTTN):c.282G>T (p.Arg94=) rs199908033 0.00057
NM_173630.4(RTTN):c.1676A>C (p.Asp559Ala) rs201443817 0.00049
NM_173630.4(RTTN):c.4032+6C>T rs182157946 0.00048
NM_173630.4(RTTN):c.2255C>T (p.Pro752Leu) rs35424122 0.00043
NM_173630.4(RTTN):c.1301A>C (p.Asp434Ala) rs8083708 0.00041
NM_173630.4(RTTN):c.6596-7A>T rs779249909 0.00041
NM_173630.4(RTTN):c.4360G>T (p.Asp1454Tyr) rs199965041 0.00037
NM_173630.4(RTTN):c.5916G>C (p.Gln1972His) rs201267273 0.00037
NM_173630.4(RTTN):c.833A>G (p.Asn278Ser) rs77760128 0.00037
NM_173630.4(RTTN):c.4298G>A (p.Arg1433Gln) rs75356692 0.00036
NM_173630.4(RTTN):c.4654-43C>T rs189834726 0.00034
NM_173630.4(RTTN):c.3783G>A (p.Pro1261=) rs371484273 0.00032
NM_173630.4(RTTN):c.-26C>T rs374176554 0.00030
NM_173630.4(RTTN):c.1831C>T (p.Leu611=) rs372717287 0.00029
NM_173630.4(RTTN):c.2118A>G (p.Ala706=) rs199840279 0.00029
NM_173630.4(RTTN):c.2355T>C (p.Ser785=) rs200600259 0.00029
NM_173630.4(RTTN):c.488-15C>T rs182610959 0.00029
NM_173630.4(RTTN):c.31+18C>T rs569832958 0.00025
NM_173630.4(RTTN):c.6080C>T (p.Thr2027Met) rs199546509 0.00025
NM_173630.4(RTTN):c.330T>A (p.Asp110Glu) rs372296200 0.00022
NM_173630.4(RTTN):c.1189+14G>A rs201132700 0.00021
NM_173630.4(RTTN):c.1741A>G (p.Ser581Gly) rs375800180 0.00021
NM_173630.4(RTTN):c.86T>C (p.Ile29Thr) rs201689582 0.00021
NM_173630.4(RTTN):c.1007+13A>G rs200302395 0.00020
NM_173630.4(RTTN):c.4502G>A (p.Arg1501Gln) rs371160845 0.00019
NM_173630.4(RTTN):c.494A>C (p.Gln165Pro) rs199536536 0.00019
NM_173630.4(RTTN):c.169T>C (p.Ser57Pro) rs376558320 0.00018
NM_173630.4(RTTN):c.6003A>G (p.Thr2001=) rs367823428 0.00018
NM_173630.4(RTTN):c.708G>T (p.Leu236=) rs201505457 0.00017
NM_173630.4(RTTN):c.719C>T (p.Ala240Val) rs201226318 0.00017
NM_173630.4(RTTN):c.2670+9A>G rs200758402 0.00016
NM_173630.4(RTTN):c.3238G>A (p.Val1080Ile) rs201548591 0.00016
NM_173630.4(RTTN):c.3831G>A (p.Pro1277=) rs370572467 0.00016
NM_173630.4(RTTN):c.4032+9G>A rs202193505 0.00016
NM_173630.4(RTTN):c.4878G>A (p.Thr1626=) rs202066623 0.00016
NM_173630.4(RTTN):c.6596-8T>A rs772525574 0.00016
NM_173630.4(RTTN):c.2912C>T (p.Ser971Phe) rs201796504 0.00015
NM_173630.4(RTTN):c.4707A>T (p.Thr1569=) rs143709749 0.00015
NM_173630.4(RTTN):c.762C>T (p.Ser254=) rs376038753 0.00015
NM_173630.4(RTTN):c.1738C>T (p.Arg580Cys) rs368918234 0.00014
NM_173630.4(RTTN):c.5055A>G (p.Leu1685=) rs372431222 0.00014
NM_173630.4(RTTN):c.5115G>T (p.Gln1705His) rs370590897 0.00014
NM_173630.4(RTTN):c.5139C>T (p.Ile1713=) rs368483327 0.00014
NM_173630.4(RTTN):c.6369C>T (p.Ile2123=) rs745431671 0.00014
NM_173630.4(RTTN):c.2318C>T (p.Ser773Leu) rs375642538 0.00013
NM_173630.4(RTTN):c.590G>A (p.Ser197Asn) rs549561642 0.00013
NM_173630.4(RTTN):c.2481+18G>T rs746996156 0.00012
NM_173630.4(RTTN):c.5850C>T (p.Val1950=) rs370480126 0.00012
NM_173630.4(RTTN):c.2030T>G (p.Phe677Cys) rs200056219 0.00011
NM_173630.4(RTTN):c.2183A>C (p.Asp728Ala) rs370674668 0.00011
NM_173630.4(RTTN):c.309T>C (p.Ala103=) rs554154376 0.00011
NM_173630.4(RTTN):c.4644A>G (p.Ser1548=) rs369951676 0.00011
NM_173630.4(RTTN):c.5200T>G (p.Ser1734Ala) rs111886844 0.00011
NM_173630.4(RTTN):c.6021C>T (p.Ser2007=) rs370896475 0.00011
NM_173630.4(RTTN):c.2172+10G>C rs374856310 0.00010
NM_173630.4(RTTN):c.3137C>T (p.Thr1046Met) rs200976618 0.00010
NM_173630.4(RTTN):c.3929G>A (p.Arg1310His) rs202141467 0.00010
NM_173630.4(RTTN):c.80G>A (p.Cys27Tyr) rs201884120 0.00010
NM_173630.4(RTTN):c.1639G>A (p.Val547Ile) rs377209454 0.00009
NM_173630.4(RTTN):c.2581+8C>T rs368691056 0.00009
NM_173630.4(RTTN):c.4033-21G>T rs929083334 0.00009
NM_173630.4(RTTN):c.44C>T (p.Ala15Val) rs200061908 0.00009
NM_173630.4(RTTN):c.4501C>T (p.Arg1501Trp) rs374256500 0.00009
NM_173630.4(RTTN):c.4564+4A>C rs368489465 0.00009
NM_173630.4(RTTN):c.5610G>A (p.Leu1870=) rs376578513 0.00009
NM_173630.4(RTTN):c.952C>T (p.Arg318Cys) rs373643907 0.00009
NM_173630.4(RTTN):c.2523T>A (p.Asp841Glu) rs371829976 0.00008
NM_173630.4(RTTN):c.3332G>C (p.Gly1111Ala) rs191606870 0.00008
NM_173630.4(RTTN):c.1944C>G (p.Val648=) rs762667518 0.00007
NM_173630.4(RTTN):c.2309+10A>G rs546048105 0.00007
NM_173630.4(RTTN):c.3663T>G (p.Asn1221Lys) rs555257045 0.00007
NM_173630.4(RTTN):c.6535G>C (p.Ala2179Pro) rs587780444 0.00007
NM_173630.4(RTTN):c.1777G>A (p.Glu593Lys) rs371732895 0.00006
NM_173630.4(RTTN):c.2692C>A (p.Pro898Thr) rs370508173 0.00006
NM_173630.4(RTTN):c.2881A>G (p.Met961Val) rs371633774 0.00006
NM_173630.4(RTTN):c.3084A>G (p.Ser1028=) rs764877763 0.00006
NM_173630.4(RTTN):c.3143+10T>C rs201709074 0.00006
NM_173630.4(RTTN):c.3228C>T (p.Leu1076=) rs184081126 0.00006
NM_173630.4(RTTN):c.4033-8C>A rs752931623 0.00006
NM_173630.4(RTTN):c.4234G>A (p.Gly1412Ser) rs370765246 0.00006
NM_173630.4(RTTN):c.4253T>C (p.Val1418Ala) rs376967382 0.00006
NM_173630.4(RTTN):c.4564+8C>T rs563328673 0.00006
NM_173630.4(RTTN):c.45C>T (p.Ala15=) rs745355363 0.00006
NM_173630.4(RTTN):c.4654-11C>T rs369228345 0.00006
NM_173630.4(RTTN):c.4877C>T (p.Thr1626Met) rs781683199 0.00006
NM_173630.4(RTTN):c.5174A>C (p.Lys1725Thr) rs200883952 0.00006
NM_173630.4(RTTN):c.5264G>C (p.Gly1755Ala) rs569445270 0.00006
NM_173630.4(RTTN):c.5682A>G (p.Lys1894=) rs745509191 0.00006
NM_173630.4(RTTN):c.579-15C>T rs374868055 0.00006
NM_173630.4(RTTN):c.5904A>G (p.Gln1968=) rs773824712 0.00006
NM_173630.4(RTTN):c.1710A>C (p.Glu570Asp) rs761130082 0.00005
NM_173630.4(RTTN):c.1880T>C (p.Leu627Ser) rs201273368 0.00005
NM_173630.4(RTTN):c.2391C>T (p.Asp797=) rs746834538 0.00005
NM_173630.4(RTTN):c.3401C>G (p.Pro1134Arg) rs751565369 0.00005
NM_173630.4(RTTN):c.4144-4A>G rs756209832 0.00005
NM_173630.4(RTTN):c.694-18G>A rs189559608 0.00005
NM_173630.4(RTTN):c.88G>T (p.Glu30Ter) rs200495808 0.00005
NM_173630.4(RTTN):c.1357C>T (p.His453Tyr) rs532836432 0.00004
NM_173630.4(RTTN):c.2943C>T (p.Ser981=) rs373433381 0.00004
NM_173630.4(RTTN):c.3037G>A (p.Ala1013Thr) rs748254074 0.00004
NM_173630.4(RTTN):c.350C>T (p.Ser117Leu) rs201840025 0.00004
NM_173630.4(RTTN):c.3761C>T (p.Ala1254Val) rs754194835 0.00004
NM_173630.4(RTTN):c.3825G>A (p.Ala1275=) rs779429531 0.00004
NM_173630.4(RTTN):c.3991C>T (p.Leu1331Phe) rs778372992 0.00004
NM_173630.4(RTTN):c.6222G>C (p.Leu2074=) rs368522402 0.00004
NM_173630.4(RTTN):c.6627T>G (p.Asn2209Lys) rs756900126 0.00004
NM_173630.4(RTTN):c.905A>C (p.Gln302Pro) rs201044643 0.00004
NM_173630.4(RTTN):c.1028A>G (p.His343Arg) rs1028579324 0.00003
NM_173630.4(RTTN):c.1305+11A>G rs547572919 0.00003
NM_173630.4(RTTN):c.1351T>C (p.Cys451Arg) rs371250250 0.00003
NM_173630.4(RTTN):c.1768C>T (p.Leu590=) rs752422245 0.00003
NM_173630.4(RTTN):c.2378G>A (p.Arg793His) rs776764068 0.00003
NM_173630.4(RTTN):c.3006C>T (p.Ser1002=) rs746761740 0.00003
NM_173630.4(RTTN):c.3259G>A (p.Glu1087Lys) rs909861285 0.00003
NM_173630.4(RTTN):c.3436A>G (p.Ile1146Val) rs759726597 0.00003
NM_173630.4(RTTN):c.3701T>C (p.Leu1234Pro) rs1017327751 0.00003
NM_173630.4(RTTN):c.3716C>T (p.Thr1239Met) rs781273470 0.00003
NM_173630.4(RTTN):c.3794G>A (p.Arg1265Gln) rs776437862 0.00003
NM_173630.4(RTTN):c.3872T>C (p.Ile1291Thr) rs768583953 0.00003
NM_173630.4(RTTN):c.4029C>T (p.Ser1343=) rs1030184279 0.00003
NM_173630.4(RTTN):c.4033-17C>G rs200105809 0.00003
NM_173630.4(RTTN):c.4302+15T>C rs369510503 0.00003
NM_173630.4(RTTN):c.4564+9G>A rs374382343 0.00003
NM_173630.4(RTTN):c.4728T>A (p.His1576Gln) rs182319351 0.00003
NM_173630.4(RTTN):c.474G>A (p.Pro158=) rs370788902 0.00003
NM_173630.4(RTTN):c.5570T>C (p.Ile1857Thr) rs369861224 0.00003
NM_173630.4(RTTN):c.5626G>A (p.Ala1876Thr) rs763809812 0.00003
NM_173630.4(RTTN):c.5746-3T>C rs370297567 0.00003
NM_173630.4(RTTN):c.5962C>T (p.Leu1988Phe) rs769662761 0.00003
NM_173630.4(RTTN):c.6153+5G>A rs587780443 0.00003
NM_173630.4(RTTN):c.6387C>T (p.Phe2129=) rs370591340 0.00003
NM_173630.4(RTTN):c.723T>A (p.Phe241Leu) rs2365902 0.00003
NM_173630.4(RTTN):c.780C>T (p.Cys260=) rs752346295 0.00003
NM_173630.4(RTTN):c.840C>T (p.His280=) rs192562671 0.00003
NM_173630.4(RTTN):c.1119A>C (p.Gln373His) rs1003352207 0.00002
NM_173630.4(RTTN):c.1305G>C (p.Met435Ile) rs769538499 0.00002
NM_173630.4(RTTN):c.1540A>G (p.Ile514Val) rs761502781 0.00002
NM_173630.4(RTTN):c.1624C>T (p.Arg542Ter) rs374356518 0.00002
NM_173630.4(RTTN):c.1751A>G (p.Tyr584Cys) rs200801705 0.00002
NM_173630.4(RTTN):c.1869G>T (p.Leu623Phe) rs757634334 0.00002
NM_173630.4(RTTN):c.1962C>T (p.Pro654=) rs199706817 0.00002
NM_173630.4(RTTN):c.1963G>A (p.Val655Met) rs747101627 0.00002
NM_173630.4(RTTN):c.2101C>T (p.Arg701Ter) rs932327641 0.00002
NM_173630.4(RTTN):c.2119T>C (p.Leu707=) rs749671850 0.00002
NM_173630.4(RTTN):c.2256G>A (p.Pro752=) rs778505726 0.00002
NM_173630.4(RTTN):c.2309+11C>T rs764403491 0.00002
NM_173630.4(RTTN):c.322A>G (p.Ile108Val) rs375272609 0.00002
NM_173630.4(RTTN):c.3962G>A (p.Gly1321Asp) rs781723384 0.00002
NM_173630.4(RTTN):c.4443A>T (p.Leu1481Phe) rs774950381 0.00002
NM_173630.4(RTTN):c.4748-10T>G rs367848114 0.00002
NM_173630.4(RTTN):c.5089T>C (p.Leu1697=) rs973717604 0.00002
NM_173630.4(RTTN):c.5259A>G (p.Lys1753=) rs1218745291 0.00002
NM_173630.4(RTTN):c.6154-12A>G rs764188218 0.00002
NM_173630.4(RTTN):c.61G>T (p.Ala21Ser) rs368406992 0.00002
NM_173630.4(RTTN):c.6421+1G>A rs374274442 0.00002
NM_173630.4(RTTN):c.799C>G (p.Leu267Val) rs529266509 0.00002
NM_173630.4(RTTN):c.837A>G (p.Lys279=) rs757626007 0.00002
NM_173630.4(RTTN):c.1067T>C (p.Met356Thr) rs776381467 0.00001
NM_173630.4(RTTN):c.1076T>C (p.Ile359Thr) rs772137594 0.00001
NM_173630.4(RTTN):c.1203G>T (p.Val401=) rs2061591198 0.00001
NM_173630.4(RTTN):c.1271T>C (p.Ile424Thr) rs773064590 0.00001
NM_173630.4(RTTN):c.1273T>G (p.Trp425Gly) rs200035293 0.00001
NM_173630.4(RTTN):c.12A>G (p.Ala4=) rs1186597170 0.00001
NM_173630.4(RTTN):c.1430C>G (p.Ser477Cys) rs777309515 0.00001
NM_173630.4(RTTN):c.1444C>T (p.Arg482Ter) rs752150024 0.00001
NM_173630.4(RTTN):c.1583A>G (p.Tyr528Cys) rs899518043 0.00001
NM_173630.4(RTTN):c.1609T>C (p.Tyr537His) rs776988696 0.00001
NM_173630.4(RTTN):c.161A>G (p.Asn54Ser) rs370272217 0.00001
NM_173630.4(RTTN):c.1690-11T>C rs765375280 0.00001
NM_173630.4(RTTN):c.172G>A (p.Val58Ile) rs779827162 0.00001
NM_173630.4(RTTN):c.179T>A (p.Met60Lys) rs768122911 0.00001
NM_173630.4(RTTN):c.1840G>A (p.Glu614Lys) rs898805529 0.00001
NM_173630.4(RTTN):c.189G>A (p.Glu63=) rs751941000 0.00001
NM_173630.4(RTTN):c.2001T>C (p.His667=) rs1236597279 0.00001
NM_173630.4(RTTN):c.207C>A (p.Ser69Arg) rs1447774690 0.00001
NM_173630.4(RTTN):c.208A>G (p.Arg70Gly) rs759058292 0.00001
NM_173630.4(RTTN):c.2114C>T (p.Thr705Ile) rs34955511 0.00001
NM_173630.4(RTTN):c.220-16C>G rs753370638 0.00001
NM_173630.4(RTTN):c.2217T>C (p.Leu739=) rs1488096681 0.00001
NM_173630.4(RTTN):c.2262T>C (p.Thr754=) rs768280717 0.00001
NM_173630.4(RTTN):c.2309C>T (p.Ser770Leu) rs757093991 0.00001
NM_173630.4(RTTN):c.2482-15T>C rs750930310 0.00001
NM_173630.4(RTTN):c.2520A>C (p.Ser840=) rs1269456109 0.00001
NM_173630.4(RTTN):c.2552C>T (p.Ala851Val) rs374285374 0.00001
NM_173630.4(RTTN):c.2581+7T>G rs797045925 0.00001
NM_173630.4(RTTN):c.2738T>C (p.Met913Thr) rs1064796431 0.00001
NM_173630.4(RTTN):c.2740C>T (p.Arg914Cys) rs368507282 0.00001
NM_173630.4(RTTN):c.2747C>T (p.Ser916Leu) rs769752754 0.00001
NM_173630.4(RTTN):c.2789-11T>G rs1258727329 0.00001
NM_173630.4(RTTN):c.2820C>T (p.Val940=) rs371663654 0.00001
NM_173630.4(RTTN):c.2921C>T (p.Ser974Leu) rs1284338810 0.00001
NM_173630.4(RTTN):c.3018C>T (p.Pro1006=) rs369927073 0.00001
NM_173630.4(RTTN):c.3045G>A (p.Lys1015=) rs1443333617 0.00001
NM_173630.4(RTTN):c.3047C>T (p.Pro1016Leu) rs376633925 0.00001
NM_173630.4(RTTN):c.3115C>G (p.Gln1039Glu) rs770836677 0.00001
NM_173630.4(RTTN):c.3250A>G (p.Thr1084Ala) rs761597986 0.00001
NM_173630.4(RTTN):c.3257G>C (p.Arg1086Thr) rs199762299 0.00001
NM_173630.4(RTTN):c.3274G>A (p.Val1092Ile) rs763211093 0.00001
NM_173630.4(RTTN):c.3316T>C (p.Leu1106=) rs142614017 0.00001
NM_173630.4(RTTN):c.3337T>C (p.Cys1113Arg) rs587780442 0.00001
NM_173630.4(RTTN):c.3346A>G (p.Thr1116Ala) rs2059896238 0.00001
NM_173630.4(RTTN):c.3438C>T (p.Ile1146=) rs754083137 0.00001
NM_173630.4(RTTN):c.3449T>A (p.Leu1150Ter) rs766635681 0.00001
NM_173630.4(RTTN):c.3492A>C (p.Glu1164Asp) rs865910770 0.00001
NM_173630.4(RTTN):c.3552C>G (p.Leu1184=) rs1365927532 0.00001
NM_173630.4(RTTN):c.3673G>A (p.Val1225Ile) rs1263837138 0.00001
NM_173630.4(RTTN):c.3787C>G (p.Leu1263Val) rs769785834 0.00001
NM_173630.4(RTTN):c.3810G>A (p.Met1270Ile) rs773411890 0.00001
NM_173630.4(RTTN):c.4001C>T (p.Ser1334Phe) rs754523239 0.00001
NM_173630.4(RTTN):c.4028G>A (p.Ser1343Asn) rs1183679390 0.00001
NM_173630.4(RTTN):c.406A>G (p.Lys136Glu) rs779258069 0.00001
NM_173630.4(RTTN):c.4101A>G (p.Gly1367=) rs775191510 0.00001
NM_173630.4(RTTN):c.4306G>T (p.Ala1436Ser) rs769446702 0.00001
NM_173630.4(RTTN):c.4327C>T (p.Leu1443Phe) rs980776312 0.00001
NM_173630.4(RTTN):c.4401T>C (p.Ser1467=) rs370374328 0.00001
NM_173630.4(RTTN):c.4410G>A (p.Ser1470=) rs752694402 0.00001
NM_173630.4(RTTN):c.4430T>G (p.Leu1477Arg) rs753624472 0.00001
NM_173630.4(RTTN):c.4444dup (p.Tyr1482fs) rs779516131 0.00001
NM_173630.4(RTTN):c.4526C>G (p.Ser1509Cys) rs2058400959 0.00001
NM_173630.4(RTTN):c.4564+12A>G rs370107144 0.00001
NM_173630.4(RTTN):c.4690C>T (p.Leu1564Phe) rs746899393 0.00001
NM_173630.4(RTTN):c.4754A>G (p.Gln1585Arg) rs1409042373 0.00001
NM_173630.4(RTTN):c.4772G>A (p.Arg1591Gln) rs543724689 0.00001
NM_173630.4(RTTN):c.4864G>A (p.Asp1622Asn) rs886042189 0.00001
NM_173630.4(RTTN):c.4932T>G (p.Leu1644=) rs1057521884 0.00001
NM_173630.4(RTTN):c.4995G>A (p.Leu1665=) rs542445993 0.00001
NM_173630.4(RTTN):c.5000C>T (p.Ser1667Leu) rs374879832 0.00001
NM_173630.4(RTTN):c.5032G>A (p.Val1678Ile) rs760864208 0.00001
NM_173630.4(RTTN):c.5214C>G (p.His1738Gln) rs780831377 0.00001
NM_173630.4(RTTN):c.5647+10A>G rs1057523916 0.00001
NM_173630.4(RTTN):c.5690A>T (p.Asn1897Ile) rs746926127 0.00001
NM_173630.4(RTTN):c.5750A>G (p.Asp1917Gly) rs780270096 0.00001
NM_173630.4(RTTN):c.5810A>G (p.Asn1937Ser) rs1421920938 0.00001
NM_173630.4(RTTN):c.5950+10T>A rs1458557317 0.00001
NM_173630.4(RTTN):c.5951-11T>C rs1031455959 0.00001
NM_173630.4(RTTN):c.6183A>G (p.Leu2061=) rs1042234290 0.00001
NM_173630.4(RTTN):c.6301T>C (p.Cys2101Arg) rs201253231 0.00001
NM_173630.4(RTTN):c.640A>G (p.Ile214Val) rs797045926 0.00001
NM_173630.4(RTTN):c.6422-14A>G rs370225339 0.00001
NM_173630.4(RTTN):c.6433A>G (p.Thr2145Ala) rs996914209 0.00001
NM_173630.4(RTTN):c.6443C>A (p.Ala2148Asp) rs757807524 0.00001
NM_173630.4(RTTN):c.6525+18_6525+19dup rs1290652773 0.00001
NM_173630.4(RTTN):c.673C>T (p.Gln225Ter) rs199700128 0.00001
NM_173630.4(RTTN):c.71G>C (p.Ser24Thr) rs374232490 0.00001
NM_173630.4(RTTN):c.727_728insGAC (p.Asp243delinsGlyHis) rs1568554608 0.00001
NM_173630.4(RTTN):c.796A>T (p.Arg266Ter) rs1131691284 0.00001
NM_173630.4(RTTN):c.96C>G (p.Asn32Lys) rs373704963 0.00001
NM_173630.4(RTTN):c.998C>T (p.Ala333Val) rs577076002 0.00001
NM_173630.4(RTTN):c.999G>A (p.Ala333=) rs755744735 0.00001
GRCh37/hg19 18q22.2(chr18:67653251-67708740)
GRCh37/hg19 18q22.2(chr18:67653252-67734826)x1
GRCh37/hg19 18q22.2(chr18:67671387-67809623)x1
GRCh37/hg19 18q22.2(chr18:67753977-67788395)
NC_000018.10:g.70205914del rs200984342
NC_000018.9:g.(67742778_67753848)_(67753921_67755224)del
NC_000018.9:g.(?_67671387)_(67872894_?)dup
NC_000018.9:g.(?_67741122)_(67872894_?)dup
NC_000018.9:g.(?_67753829)_(67753940_?)del
NC_000018.9:g.(?_67781793)_(67789868_?)del
NC_000018.9:g.67742689_67765169dup
NM_173630.4(RTTN):c.*5C>T
NM_173630.4(RTTN):c.-6G>C
NM_173630.4(RTTN):c.1007+102_1007+111del rs35759421
NM_173630.4(RTTN):c.1007+111del rs35759421
NM_173630.4(RTTN):c.1007+112G>T rs1031052387
NM_173630.4(RTTN):c.1007+8C>A
NM_173630.4(RTTN):c.1007+92dup rs35759421
NM_173630.4(RTTN):c.1022A>C (p.His341Pro)
NM_173630.4(RTTN):c.1045T>G (p.Ser349Ala)
NM_173630.4(RTTN):c.1075A>G (p.Ile359Val) rs527433108
NM_173630.4(RTTN):c.1114C>A (p.Leu372Ile) rs1176155751
NM_173630.4(RTTN):c.1123C>T (p.Gln375Ter) rs2146092980
NM_173630.4(RTTN):c.1137T>C (p.Leu379=) rs1600017993
NM_173630.4(RTTN):c.1154C>G (p.Ser385Cys)
NM_173630.4(RTTN):c.1156A>G (p.Ile386Val)
NM_173630.4(RTTN):c.1174C>T (p.Pro392Ser)
NM_173630.4(RTTN):c.1187C>T (p.Thr396Ile)
NM_173630.4(RTTN):c.1188A>G (p.Thr396=)
NM_173630.4(RTTN):c.1190-16dup
NM_173630.4(RTTN):c.1190-8A>G
NM_173630.4(RTTN):c.1193G>C (p.Ser398Thr)
NM_173630.4(RTTN):c.1215T>C (p.Val405=)
NM_173630.4(RTTN):c.1234G>T (p.Asp412Tyr)
NM_173630.4(RTTN):c.1255_1256delinsAA (p.Ala419Lys)
NM_173630.4(RTTN):c.1272C>G (p.Ile424Met)
NM_173630.4(RTTN):c.1281C>T (p.Asp427=)
NM_173630.4(RTTN):c.1298T>C (p.Ile433Thr)
NM_173630.4(RTTN):c.1305+6A>G
NM_173630.4(RTTN):c.1317A>G (p.Leu439=)
NM_173630.4(RTTN):c.1318C>T (p.Leu440Phe)
NM_173630.4(RTTN):c.1333G>A (p.Ala445Thr)
NM_173630.4(RTTN):c.1351T>G (p.Cys451Gly)
NM_173630.4(RTTN):c.1355A>G (p.Tyr452Cys)
NM_173630.4(RTTN):c.1407C>G (p.His469Gln)
NM_173630.4(RTTN):c.140T>A (p.Leu47His) rs1463558882
NM_173630.4(RTTN):c.1410A>T (p.Arg470Ser) rs2145984066
NM_173630.4(RTTN):c.1423A>G (p.Ser475Gly) rs368044623
NM_173630.4(RTTN):c.1423A>T (p.Ser475Cys)
NM_173630.4(RTTN):c.1426A>T (p.Ile476Phe)
NM_173630.4(RTTN):c.1471G>C (p.Glu491Gln)
NM_173630.4(RTTN):c.1476+18G>A
NM_173630.4(RTTN):c.1476+295_1476+298del rs372590513
NM_173630.4(RTTN):c.1481G>A (p.Ser494Asn)
NM_173630.4(RTTN):c.1482C>G (p.Ser494Arg) rs373681156
NM_173630.4(RTTN):c.1482C>T (p.Ser494=)
NM_173630.4(RTTN):c.1483G>A (p.Glu495Lys)
NM_173630.4(RTTN):c.1491dup (p.Ser498fs)
NM_173630.4(RTTN):c.1500T>C (p.Pro500=)
NM_173630.4(RTTN):c.1501A>G (p.Met501Val)
NM_173630.4(RTTN):c.1536G>A (p.Met512Ile) rs2061065223
NM_173630.4(RTTN):c.1540A>T (p.Ile514Phe)
NM_173630.4(RTTN):c.1550A>C (p.Glu517Ala)
NM_173630.4(RTTN):c.1564C>T (p.His522Tyr)
NM_173630.4(RTTN):c.1579G>A (p.Ala527Thr)
NM_173630.4(RTTN):c.1599T>A (p.Asn533Lys)
NM_173630.4(RTTN):c.1601C>A (p.Ser534Tyr)
NM_173630.4(RTTN):c.1607A>G (p.Asn536Ser)
NM_173630.4(RTTN):c.1608C>A (p.Asn536Lys)
NM_173630.4(RTTN):c.1625G>A (p.Arg542Gln)
NM_173630.4(RTTN):c.1642T>A (p.Tyr548Asn)
NM_173630.4(RTTN):c.1643A>T (p.Tyr548Phe)
NM_173630.4(RTTN):c.1652A>T (p.Glu551Val)
NM_173630.4(RTTN):c.1659C>T (p.Thr553=)
NM_173630.4(RTTN):c.1673C>A (p.Ser558Tyr) rs777233196
NM_173630.4(RTTN):c.1673C>T (p.Ser558Phe)
NM_173630.4(RTTN):c.1678del (p.Ile560fs) rs2145924056
NM_173630.4(RTTN):c.1679T>C (p.Ile560Thr)
NM_173630.4(RTTN):c.1685A>G (p.Lys562Arg)
NM_173630.4(RTTN):c.1690-164C>A rs7227882
NM_173630.4(RTTN):c.171C>T (p.Ser57=)
NM_173630.4(RTTN):c.1724C>G (p.Ala575Gly)
NM_173630.4(RTTN):c.1732G>C (p.Ala578Pro) rs775277800
NM_173630.4(RTTN):c.1734C>T (p.Ala578=)
NM_173630.4(RTTN):c.1788C>G (p.Ser596Arg)
NM_173630.4(RTTN):c.1802+11C>A
NM_173630.4(RTTN):c.1803-19T>C
NM_173630.4(RTTN):c.1811C>T (p.Ser604Phe)
NM_173630.4(RTTN):c.1832T>C (p.Leu611Pro)
NM_173630.4(RTTN):c.1838G>A (p.Gly613Glu)
NM_173630.4(RTTN):c.1838G>C (p.Gly613Ala) rs749520981
NM_173630.4(RTTN):c.1843A>G (p.Ser615Gly)
NM_173630.4(RTTN):c.1866G>A (p.Met622Ile)
NM_173630.4(RTTN):c.187G>A (p.Glu63Lys)
NM_173630.4(RTTN):c.1885C>T (p.Arg629Ter)
NM_173630.4(RTTN):c.1890G>A (p.Val630=)
NM_173630.4(RTTN):c.18C>G (p.Leu6=)
NM_173630.4(RTTN):c.1925C>G (p.Thr642Arg) rs760276630
NM_173630.4(RTTN):c.1926G>A (p.Thr642=)
NM_173630.4(RTTN):c.1929+17dup
NM_173630.4(RTTN):c.1929+19G>A
NM_173630.4(RTTN):c.1930-151_1930-148del rs60448685
NM_173630.4(RTTN):c.1932A>G (p.Glu644=)
NM_173630.4(RTTN):c.1940G>A (p.Gly647Asp)
NM_173630.4(RTTN):c.1941T>A (p.Gly647=)
NM_173630.4(RTTN):c.1946A>G (p.His649Arg)
NM_173630.4(RTTN):c.1967C>T (p.Ser656Phe)
NM_173630.4(RTTN):c.1979A>T (p.Asn660Ile) rs755371922
NM_173630.4(RTTN):c.1982G>T (p.Gly661Val) rs778494442
NM_173630.4(RTTN):c.19A>G (p.Ile7Val)
NM_173630.4(RTTN):c.2009T>A (p.Val670Asp)
NM_173630.4(RTTN):c.2015A>G (p.Tyr672Cys) rs2145794920
NM_173630.4(RTTN):c.2034C>T (p.Gly678=)
NM_173630.4(RTTN):c.2046C>T (p.Pro682=)
NM_173630.4(RTTN):c.2047G>A (p.Glu683Lys)
NM_173630.4(RTTN):c.2053G>T (p.Glu685Ter)
NM_173630.4(RTTN):c.2055+15A>G
NM_173630.4(RTTN):c.2055+33G>C rs116715798
NM_173630.4(RTTN):c.2055+8A>G rs369247502
NM_173630.4(RTTN):c.2056-12_2056-11del rs762405595
NM_173630.4(RTTN):c.2056-18G>A rs1477500731
NM_173630.4(RTTN):c.2056-5A>G
NM_173630.4(RTTN):c.2059A>G (p.Asn687Asp)
NM_173630.4(RTTN):c.2082G>T (p.Leu694=) rs1210162355
NM_173630.4(RTTN):c.2099G>A (p.Gly700Glu)
NM_173630.4(RTTN):c.2124C>T (p.Thr708=)
NM_173630.4(RTTN):c.2172+8G>C
NM_173630.4(RTTN):c.2174delG (p.Gly725fs) rs2145783332
NM_173630.4(RTTN):c.2181C>A (p.Ala727=)
NM_173630.4(RTTN):c.2181C>T (p.Ala727=)
NM_173630.4(RTTN):c.2182G>A (p.Asp728Asn)
NM_173630.4(RTTN):c.2183A>G (p.Asp728Gly) rs370674668
NM_173630.4(RTTN):c.2190A>C (p.Glu730Asp)
NM_173630.4(RTTN):c.2194C>T (p.Pro732Ser)
NM_173630.4(RTTN):c.220-15C>T
NM_173630.4(RTTN):c.220-1G>A
NM_173630.4(RTTN):c.220-7A>G
NM_173630.4(RTTN):c.2201G>A (p.Gly734Asp) rs2145782871
NM_173630.4(RTTN):c.2203A>G (p.Asn735Asp) rs2060468580
NM_173630.4(RTTN):c.2214C>T (p.Leu738=)
NM_173630.4(RTTN):c.2237A>C (p.Asp746Ala)
NM_173630.4(RTTN):c.223C>A (p.Pro75Thr)
NM_173630.4(RTTN):c.223C>G (p.Pro75Ala)
NM_173630.4(RTTN):c.2277C>G (p.Ser759=)
NM_173630.4(RTTN):c.2278A>G (p.Met760Val)
NM_173630.4(RTTN):c.2291T>G (p.Leu764Trp)
NM_173630.4(RTTN):c.2309+16T>G
NM_173630.4(RTTN):c.2309+5G>A
NM_173630.4(RTTN):c.2309+950T>C rs9963733
NM_173630.4(RTTN):c.2310-11T>G
NM_173630.4(RTTN):c.2310-5C>G
NM_173630.4(RTTN):c.2315G>A (p.Arg772His)
NM_173630.4(RTTN):c.2319G>A (p.Ser773=)
NM_173630.4(RTTN):c.2323G>A (p.Ala775Thr)
NM_173630.4(RTTN):c.2325A>G (p.Ala775=)
NM_173630.4(RTTN):c.2331G>A (p.Lys777=)
NM_173630.4(RTTN):c.2334T>G (p.Leu778=)
NM_173630.4(RTTN):c.2345A>T (p.His782Leu)
NM_173630.4(RTTN):c.234C>T (p.Val78=) rs2146202764
NM_173630.4(RTTN):c.2350A>T (p.Thr784Ser)
NM_173630.4(RTTN):c.2351C>T (p.Thr784Ile)
NM_173630.4(RTTN):c.2449A>G (p.Arg817Gly)
NM_173630.4(RTTN):c.2480A>G (p.Lys827Arg)
NM_173630.4(RTTN):c.2481+11A>G rs2145755230
NM_173630.4(RTTN):c.2481+6T>C rs367787928
NM_173630.4(RTTN):c.2482-10del rs747938327
NM_173630.4(RTTN):c.2482-1G>T
NM_173630.4(RTTN):c.2482-20T>G
NM_173630.4(RTTN):c.2482-24dup rs747938327
NM_173630.4(RTTN):c.2482-26dup rs374045309
NM_173630.4(RTTN):c.2482-8del rs765930571
NM_173630.4(RTTN):c.2528_2530del (p.Val843del)
NM_173630.4(RTTN):c.253G>A (p.Gly85Ser)
NM_173630.4(RTTN):c.2551G>C (p.Ala851Pro)
NM_173630.4(RTTN):c.2575A>T (p.Met859Leu)
NM_173630.4(RTTN):c.257C>T (p.Ala86Val) rs797045924
NM_173630.4(RTTN):c.2581+15G>A
NM_173630.4(RTTN):c.2581+1G>A
NM_173630.4(RTTN):c.2581+20A>G rs2060275640
NM_173630.4(RTTN):c.2582-16C>T
NM_173630.4(RTTN):c.2582-4A>G rs758892535
NM_173630.4(RTTN):c.2585T>C (p.Ile862Thr)
NM_173630.4(RTTN):c.25A>G (p.Lys9Glu)
NM_173630.4(RTTN):c.2601G>A (p.Val867=) rs2145715138
NM_173630.4(RTTN):c.2621T>C (p.Ile874Thr)
NM_173630.4(RTTN):c.2636A>T (p.Glu879Val) rs1403643500
NM_173630.4(RTTN):c.2637G>A (p.Glu879=)
NM_173630.4(RTTN):c.2650T>C (p.Cys884Arg)
NM_173630.4(RTTN):c.2670+9A>T rs200758402
NM_173630.4(RTTN):c.2670_2670+2del
NM_173630.4(RTTN):c.2671-9C>T
NM_173630.4(RTTN):c.2680T>C (p.Cys894Arg)
NM_173630.4(RTTN):c.2691A>G (p.Gln897=)
NM_173630.4(RTTN):c.2692C>T (p.Pro898Ser)
NM_173630.4(RTTN):c.26A>G (p.Lys9Arg)
NM_173630.4(RTTN):c.2708del (p.Leu902_Leu903insTer)
NM_173630.4(RTTN):c.2716G>T (p.Val906Phe)
NM_173630.4(RTTN):c.273T>C (p.Ser91=)
NM_173630.4(RTTN):c.2748G>A (p.Ser916=) rs765124195
NM_173630.4(RTTN):c.274A>C (p.Lys92Gln)
NM_173630.4(RTTN):c.2753C>A (p.Ser918Ter) rs759249497
NM_173630.4(RTTN):c.2753C>T (p.Ser918Leu)
NM_173630.4(RTTN):c.2754G>A (p.Ser918=)
NM_173630.4(RTTN):c.2776G>A (p.Val926Met)
NM_173630.4(RTTN):c.2788+18T>A
NM_173630.4(RTTN):c.2788+7A>T
NM_173630.4(RTTN):c.2789-1G>C rs1467484094
NM_173630.4(RTTN):c.2796A>T (p.Leu932Phe) rs318240757
NM_173630.4(RTTN):c.27A>G (p.Lys9=) rs1555784718
NM_173630.4(RTTN):c.2806G>A (p.Glu936Lys)
NM_173630.4(RTTN):c.2807A>G (p.Glu936Gly)
NM_173630.4(RTTN):c.280C>T (p.Arg94Trp) rs1490930098
NM_173630.4(RTTN):c.281G>C (p.Arg94Pro)
NM_173630.4(RTTN):c.2821G>C (p.Val941Leu)
NM_173630.4(RTTN):c.282G>C (p.Arg94=)
NM_173630.4(RTTN):c.2853A>G (p.Leu951=)
NM_173630.4(RTTN):c.285T>G (p.Ser95=)
NM_173630.4(RTTN):c.2883G>A (p.Met961Ile)
NM_173630.4(RTTN):c.2885+20A>G
NM_173630.4(RTTN):c.2885+245del rs199598647
NM_173630.4(RTTN):c.2885+8A>G rs864321620
NM_173630.4(RTTN):c.2886-2A>G
NM_173630.4(RTTN):c.2886G>A (p.Trp962Ter)
NM_173630.4(RTTN):c.2912C>G (p.Ser971Cys)
NM_173630.4(RTTN):c.2919A>G (p.Pro973=)
NM_173630.4(RTTN):c.2927T>C (p.Phe976Ser) rs886039611
NM_173630.4(RTTN):c.2944G>A (p.Val982Ile)
NM_173630.4(RTTN):c.2953A>G (p.Arg985Gly)
NM_173630.4(RTTN):c.2954+6G>T
NM_173630.4(RTTN):c.2954+7G>C
NM_173630.4(RTTN):c.2955-174del rs142593943
NM_173630.4(RTTN):c.2955-20T>C
NM_173630.4(RTTN):c.2991T>C (p.Ala997=)
NM_173630.4(RTTN):c.29T>C (p.Leu10Pro) rs2062061239
NM_173630.4(RTTN):c.2T>C (p.Met1Thr) rs1568571414
NM_173630.4(RTTN):c.3027T>C (p.Ala1009=)
NM_173630.4(RTTN):c.3032G>T (p.Cys1011Phe)
NM_173630.4(RTTN):c.3039C>T (p.Ala1013=)
NM_173630.4(RTTN):c.3042G>A (p.Leu1014=)
NM_173630.4(RTTN):c.3059T>C (p.Met1020Thr) rs2059920096
NM_173630.4(RTTN):c.3077A>G (p.Asn1026Ser)
NM_173630.4(RTTN):c.30C>T (p.Leu10=)
NM_173630.4(RTTN):c.31+11G>C
NM_173630.4(RTTN):c.3128A>G (p.Glu1043Gly)
NM_173630.4(RTTN):c.3138G>A (p.Thr1046=)
NM_173630.4(RTTN):c.3143+12T>A
NM_173630.4(RTTN):c.3143+12T>C
NM_173630.4(RTTN):c.3143+144C>A rs116794642
NM_173630.4(RTTN):c.3143+7T>G
NM_173630.4(RTTN):c.3144-6G>T rs1243361662
NM_173630.4(RTTN):c.3157T>C (p.Leu1053=) rs1599682423
NM_173630.4(RTTN):c.3166T>C (p.Ser1056Pro)
NM_173630.4(RTTN):c.3175_3178del (p.Asp1059fs) rs2145613736
NM_173630.4(RTTN):c.3190A>C (p.Lys1064Gln) rs864321621
NM_173630.4(RTTN):c.32-12G>T
NM_173630.4(RTTN):c.32-17G>T
NM_173630.4(RTTN):c.3216G>T (p.Leu1072=) rs369222015
NM_173630.4(RTTN):c.3233C>A (p.Ser1078Tyr)
NM_173630.4(RTTN):c.3236_3237delinsGG (p.Ile1079Arg)
NM_173630.4(RTTN):c.3238_3241del (p.Val1080fs)
NM_173630.4(RTTN):c.3248C>T (p.Ala1083Val)
NM_173630.4(RTTN):c.3255C>T (p.His1085=)
NM_173630.4(RTTN):c.3261A>T (p.Glu1087Asp) rs1382410101
NM_173630.4(RTTN):c.3280A>C (p.Arg1094=)
NM_173630.4(RTTN):c.3282G>A (p.Arg1094=)
NM_173630.4(RTTN):c.331G>C (p.Gly111Arg)
NM_173630.4(RTTN):c.3321G>A (p.Lys1107=) rs147728279
NM_173630.4(RTTN):c.3321G>C (p.Lys1107Asn) rs147728279
NM_173630.4(RTTN):c.3372C>A (p.Thr1124=) rs763915858
NM_173630.4(RTTN):c.3373G>A (p.Ala1125Thr) rs183531175
NM_173630.4(RTTN):c.3373G>T (p.Ala1125Ser)
NM_173630.4(RTTN):c.3378A>G (p.Leu1126=)
NM_173630.4(RTTN):c.3380dup (p.Asn1127fs) rs797044691
NM_173630.4(RTTN):c.3384-4A>G rs1455491554
NM_173630.4(RTTN):c.3384-8C>T
NM_173630.4(RTTN):c.3390A>G (p.Leu1130=)
NM_173630.4(RTTN):c.3400C>T (p.Pro1134Ser)
NM_173630.4(RTTN):c.3401C>T (p.Pro1134Leu)
NM_173630.4(RTTN):c.3409A>G (p.Thr1137Ala)
NM_173630.4(RTTN):c.3460A>G (p.Ile1154Val)
NM_173630.4(RTTN):c.3470A>G (p.Gln1157Arg)
NM_173630.4(RTTN):c.3487C>T (p.Leu1163=)
NM_173630.4(RTTN):c.3494T>A (p.Leu1165His)
NM_173630.4(RTTN):c.3510C>T (p.Leu1170=)
NM_173630.4(RTTN):c.3511G>A (p.Glu1171Lys)
NM_173630.4(RTTN):c.3529-11del rs758934823
NM_173630.4(RTTN):c.3529-16A>G
NM_173630.4(RTTN):c.3529-19T>C
NM_173630.4(RTTN):c.3529-2del
NM_173630.4(RTTN):c.3529-9A>G
NM_173630.4(RTTN):c.352G>C (p.Glu118Gln)
NM_173630.4(RTTN):c.3559C>G (p.Leu1187Val)
NM_173630.4(RTTN):c.3574G>A (p.Ala1192Thr)
NM_173630.4(RTTN):c.3577C>T (p.Arg1193Ter) rs1280580731
NM_173630.4(RTTN):c.3586A>G (p.Thr1196Ala)
NM_173630.4(RTTN):c.3589_3590del (p.Thr1196_Asp1197insTer) rs886041460
NM_173630.4(RTTN):c.3593A>G (p.Asp1198Gly)
NM_173630.4(RTTN):c.3596T>C (p.Ile1199Thr)
NM_173630.4(RTTN):c.3633G>A (p.Leu1211=)
NM_173630.4(RTTN):c.3636T>A (p.Ile1212=)
NM_173630.4(RTTN):c.3662A>G (p.Asn1221Ser)
NM_173630.4(RTTN):c.3668T>C (p.Met1223Thr)
NM_173630.4(RTTN):c.3669G>A (p.Met1223Ile)
NM_173630.4(RTTN):c.3682A>C (p.Arg1228=)
NM_173630.4(RTTN):c.3683+18G>T
NM_173630.4(RTTN):c.3683+19C>T
NM_173630.4(RTTN):c.3684-17C>T
NM_173630.4(RTTN):c.36T>C (p.His12=)
NM_173630.4(RTTN):c.3705C>A (p.Tyr1235Ter) rs375510822
NM_173630.4(RTTN):c.3706G>A (p.Val1236Ile)
NM_173630.4(RTTN):c.3714A>G (p.Gln1238=)
NM_173630.4(RTTN):c.3717G>A (p.Thr1239=)
NM_173630.4(RTTN):c.3735G>C (p.Leu1245=)
NM_173630.4(RTTN):c.374C>T (p.Ala125Val)
NM_173630.4(RTTN):c.3755C>T (p.Thr1252Met)
NM_173630.4(RTTN):c.3756G>A (p.Thr1252=)
NM_173630.4(RTTN):c.375_376delinsTG (p.Ser126Ala) rs2146201494
NM_173630.4(RTTN):c.3764C>T (p.Pro1255Leu)
NM_173630.4(RTTN):c.376T>A (p.Ser126Thr) rs3911730
NM_173630.4(RTTN):c.3777C>G (p.Gly1259=)
NM_173630.4(RTTN):c.3783G>T (p.Pro1261=)
NM_173630.4(RTTN):c.3786C>A (p.Ser1262=)
NM_173630.4(RTTN):c.3793C>T (p.Arg1265Trp)
NM_173630.4(RTTN):c.3795G>A (p.Arg1265=)
NM_173630.4(RTTN):c.3807G>A (p.Gly1269=)
NM_173630.4(RTTN):c.3808A>G (p.Met1270Val)
NM_173630.4(RTTN):c.3824C>G (p.Ala1275Gly) rs368042408
NM_173630.4(RTTN):c.3830C>T (p.Pro1277Leu)
NM_173630.4(RTTN):c.3845A>G (p.His1282Arg)
NM_173630.4(RTTN):c.3849T>C (p.Ser1283=)
NM_173630.4(RTTN):c.3850C>A (p.Pro1284Thr) rs377399910
NM_173630.4(RTTN):c.3855C>T (p.Leu1285=)
NM_173630.4(RTTN):c.3861G>A (p.Lys1287=)
NM_173630.4(RTTN):c.3863C>T (p.Pro1288Leu) rs554362605
NM_173630.4(RTTN):c.3867A>G (p.Leu1289=)
NM_173630.4(RTTN):c.3871A>T (p.Ile1291Phe)
NM_173630.4(RTTN):c.3873C>G (p.Ile1291Met) rs1555733799
NM_173630.4(RTTN):c.3897C>T (p.Leu1299=)
NM_173630.4(RTTN):c.3903+18A>G
NM_173630.4(RTTN):c.3903+4A>C
NM_173630.4(RTTN):c.3927G>A (p.Glu1309=)
NM_173630.4(RTTN):c.3928C>T (p.Arg1310Cys)
NM_173630.4(RTTN):c.3929G>T (p.Arg1310Leu)
NM_173630.4(RTTN):c.3943_3946del (p.Met1315fs) rs1195644432
NM_173630.4(RTTN):c.395C>T (p.Thr132Ile)
NM_173630.4(RTTN):c.397+7C>T rs556099878
NM_173630.4(RTTN):c.398-1G>T
NM_173630.4(RTTN):c.398-20A>G
NM_173630.4(RTTN):c.3987C>T (p.Cys1329=)
NM_173630.4(RTTN):c.398A>T (p.Glu133Val)
NM_173630.4(RTTN):c.399A>G (p.Glu133=)
NM_173630.4(RTTN):c.39G>T (p.Gln13His) rs1441727786
NM_173630.4(RTTN):c.4002C>G (p.Ser1334=)
NM_173630.4(RTTN):c.4003C>T (p.His1335Tyr)
NM_173630.4(RTTN):c.4008G>A (p.Glu1336=)
NM_173630.4(RTTN):c.4014G>A (p.Met1338Ile)
NM_173630.4(RTTN):c.4032+5G>A
NM_173630.4(RTTN):c.4032+7G>A
NM_173630.4(RTTN):c.4032+8C>T
NM_173630.4(RTTN):c.4033-158_4033-157del rs139499965
NM_173630.4(RTTN):c.4033-93G>T rs4891394
NM_173630.4(RTTN):c.4064G>A (p.Gly1355Asp)
NM_173630.4(RTTN):c.4066A>G (p.Ser1356Gly) rs2058867155
NM_173630.4(RTTN):c.4068T>C (p.Ser1356=)
NM_173630.4(RTTN):c.4081C>T (p.His1361Tyr)
NM_173630.4(RTTN):c.4082A>G (p.His1361Arg) rs1385408892
NM_173630.4(RTTN):c.410A>G (p.Asn137Ser)
NM_173630.4(RTTN):c.4129G>C (p.Asp1377His)
NM_173630.4(RTTN):c.412C>A (p.Pro138Thr)
NM_173630.4(RTTN):c.4132C>A (p.Arg1378=)
NM_173630.4(RTTN):c.4133G>A (p.Arg1378Gln)
NM_173630.4(RTTN):c.4143+12G>C
NM_173630.4(RTTN):c.4143+17A>G
NM_173630.4(RTTN):c.4158A>G (p.Ser1386=)
NM_173630.4(RTTN):c.4158A>T (p.Ser1386=)
NM_173630.4(RTTN):c.4162G>A (p.Gly1388Arg)
NM_173630.4(RTTN):c.4182C>T (p.Thr1394=) rs1229299806
NM_173630.4(RTTN):c.4190A>C (p.Glu1397Ala)
NM_173630.4(RTTN):c.4203G>T (p.Val1401=)
NM_173630.4(RTTN):c.4207T>C (p.Leu1403=) rs1599468381
NM_173630.4(RTTN):c.4225A>C (p.Asn1409His)
NM_173630.4(RTTN):c.4233C>T (p.Ser1411=) rs768570102
NM_173630.4(RTTN):c.424A>G (p.Thr142Ala) rs1180345951
NM_173630.4(RTTN):c.4269G>A (p.Leu1423=)
NM_173630.4(RTTN):c.4272C>T (p.Asp1424=)
NM_173630.4(RTTN):c.4275G>C (p.Gln1425His)
NM_173630.4(RTTN):c.4284T>C (p.Cys1428=)
NM_173630.4(RTTN):c.4294C>T (p.Arg1432Cys)
NM_173630.4(RTTN):c.4295G>A (p.Arg1432His) rs1465962355
NM_173630.4(RTTN):c.4302+10T>C rs2145198501
NM_173630.4(RTTN):c.4302+20T>A
NM_173630.4(RTTN):c.4302+3A>G
NM_173630.4(RTTN):c.4302+9G>T
NM_173630.4(RTTN):c.4303-21_4303-11del rs531741265
NM_173630.4(RTTN):c.4303-22_4303-11del rs531741265
NM_173630.4(RTTN):c.4303-24_4303-11del rs531741265
NM_173630.4(RTTN):c.4303-25_4303-11del rs531741265
NM_173630.4(RTTN):c.4303-26_4303-11del rs531741265
NM_173630.4(RTTN):c.4303-27_4303-11del rs531741265
NM_173630.4(RTTN):c.4303-28_4303-11del rs531741265
NM_173630.4(RTTN):c.4303-3C>A
NM_173630.4(RTTN):c.4303-9C>A rs1599460109
NM_173630.4(RTTN):c.433T>A (p.Phe145Ile)
NM_173630.4(RTTN):c.436C>T (p.Pro146Ser)
NM_173630.4(RTTN):c.4374G>A (p.Gln1458=) rs1459805081
NM_173630.4(RTTN):c.4375-15C>T
NM_173630.4(RTTN):c.4375-24C>T rs285228
NM_173630.4(RTTN):c.4375-3963_4564+444del
NM_173630.4(RTTN):c.4376G>A (p.Gly1459Asp)
NM_173630.4(RTTN):c.4389T>C (p.His1463=)
NM_173630.4(RTTN):c.4407A>G (p.Leu1469=)
NM_173630.4(RTTN):c.4425_4428dup (p.Leu1477fs)
NM_173630.4(RTTN):c.4438C>T (p.Leu1480Phe) rs773407722
NM_173630.4(RTTN):c.4445A>G (p.Tyr1482Cys) rs372019678
NM_173630.4(RTTN):c.4454A>G (p.His1485Arg)
NM_173630.4(RTTN):c.4474C>T (p.Gln1492Ter) rs1555717153
NM_173630.4(RTTN):c.4513G>C (p.Asp1505His)
NM_173630.4(RTTN):c.4516T>G (p.Leu1506Val)
NM_173630.4(RTTN):c.4546G>A (p.Glu1516Lys)
NM_173630.4(RTTN):c.4548A>G (p.Glu1516=)
NM_173630.4(RTTN):c.455T>G (p.Phe152Cys)
NM_173630.4(RTTN):c.4561A>T (p.Asn1521Tyr) rs2145070822
NM_173630.4(RTTN):c.4564+142A>G rs11665578
NM_173630.4(RTTN):c.4564+5G>T rs1020739065
NM_173630.4(RTTN):c.4565-11C>T
NM_173630.4(RTTN):c.4565-125C>G rs73964495
NM_173630.4(RTTN):c.4565-148del rs879380082
NM_173630.4(RTTN):c.4565-18A>G
NM_173630.4(RTTN):c.4565-19A>G
NM_173630.4(RTTN):c.4565-6_4565-4del rs775033795
NM_173630.4(RTTN):c.4581C>G (p.Phe1527Leu)
NM_173630.4(RTTN):c.4582A>C (p.Lys1528Gln)
NM_173630.4(RTTN):c.458A>G (p.Gln153Arg)
NM_173630.4(RTTN):c.45C>G (p.Ala15=)
NM_173630.4(RTTN):c.4619G>A (p.Arg1540Gln)
NM_173630.4(RTTN):c.4633C>G (p.Leu1545Val)
NM_173630.4(RTTN):c.4635C>T (p.Leu1545=) rs2058361915
NM_173630.4(RTTN):c.4638C>G (p.Ser1546=)
NM_173630.4(RTTN):c.4652C>A (p.Thr1551Lys) rs200548446
NM_173630.4(RTTN):c.4652C>T (p.Thr1551Met) rs200548446
NM_173630.4(RTTN):c.4654-7T>C
NM_173630.4(RTTN):c.4661C>T (p.Pro1554Leu)
NM_173630.4(RTTN):c.4666T>C (p.Leu1556=)
NM_173630.4(RTTN):c.4698G>A (p.Gln1566=)
NM_173630.4(RTTN):c.4702A>G (p.Thr1568Ala)
NM_173630.4(RTTN):c.4705A>G (p.Thr1569Ala)
NM_173630.4(RTTN):c.4733A>G (p.Gln1578Arg)
NM_173630.4(RTTN):c.4737del (p.Phe1579fs)
NM_173630.4(RTTN):c.473C>T (p.Pro158Leu)
NM_173630.4(RTTN):c.4746A>G (p.Gln1582=)
NM_173630.4(RTTN):c.4747+18A>G
NM_173630.4(RTTN):c.4747+18A>T rs1368313103
NM_173630.4(RTTN):c.4751A>G (p.His1584Arg)
NM_173630.4(RTTN):c.4759A>C (p.Ser1587Arg) rs2144895777
NM_173630.4(RTTN):c.4761T>C (p.Ser1587=)
NM_173630.4(RTTN):c.4763C>T (p.Thr1588Ile)
NM_173630.4(RTTN):c.4770A>G (p.Pro1590=)
NM_173630.4(RTTN):c.478C>T (p.Arg160Ter)
NM_173630.4(RTTN):c.479G>A (p.Arg160Gln)
NM_173630.4(RTTN):c.4818T>C (p.Cys1606=)
NM_173630.4(RTTN):c.481C>T (p.Pro161Ser)
NM_173630.4(RTTN):c.4856G>A (p.Ser1619Asn) rs1599327363
NM_173630.4(RTTN):c.487+13C>G
NM_173630.4(RTTN):c.487+13C>T rs200125957
NM_173630.4(RTTN):c.487+260_487+261dup rs34966295
NM_173630.4(RTTN):c.487+260dup rs34966295
NM_173630.4(RTTN):c.487+286del rs34966295
NM_173630.4(RTTN):c.487+2T>G rs2061961914
NM_173630.4(RTTN):c.487+4T>A
NM_173630.4(RTTN):c.487+7A>G
NM_173630.4(RTTN):c.488-13C>T
NM_173630.4(RTTN):c.488-16G>A
NM_173630.4(RTTN):c.488-4A>G
NM_173630.4(RTTN):c.488-5G>A
NM_173630.4(RTTN):c.4880T>G (p.Ile1627Ser) rs778267549
NM_173630.4(RTTN):c.4884T>C (p.Ala1628=) rs886042166
NM_173630.4(RTTN):c.4903G>C (p.Ala1635Pro) rs2144893429
NM_173630.4(RTTN):c.4906T>C (p.Phe1636Leu)
NM_173630.4(RTTN):c.4910G>A (p.Arg1637Gln)
NM_173630.4(RTTN):c.4917T>C (p.Ala1639=)
NM_173630.4(RTTN):c.4923C>G (p.Leu1641=)
NM_173630.4(RTTN):c.4932_4934del (p.Leu1645del) rs767841109
NM_173630.4(RTTN):c.4940+10A>G
NM_173630.4(RTTN):c.4940+111T>C rs11876398
NM_173630.4(RTTN):c.4940+17C>T
NM_173630.4(RTTN):c.4941-11G>A
NM_173630.4(RTTN):c.4941-7G>A
NM_173630.4(RTTN):c.4941-8C>T
NM_173630.4(RTTN):c.4941-9T>C
NM_173630.4(RTTN):c.4954A>G (p.Thr1652Ala)
NM_173630.4(RTTN):c.4957C>T (p.Leu1653Phe)
NM_173630.4(RTTN):c.4960A>G (p.Ile1654Val)
NM_173630.4(RTTN):c.4966dup (p.Thr1656fs)
NM_173630.4(RTTN):c.4975C>T (p.Gln1659Ter) rs771001575
NM_173630.4(RTTN):c.4984del (p.Arg1662fs)
NM_173630.4(RTTN):c.4989C>T (p.Ala1663=)
NM_173630.4(RTTN):c.499G>A (p.Val167Met) rs774390301
NM_173630.4(RTTN):c.5003C>T (p.Ser1668Leu)
NM_173630.4(RTTN):c.5031+138C>G rs17805883
NM_173630.4(RTTN):c.5032-20C>A rs200438852
NM_173630.4(RTTN):c.5049A>T (p.Glu1683Asp) rs1599300112
NM_173630.4(RTTN):c.5070G>A (p.Arg1690=) rs757912747
NM_173630.4(RTTN):c.5092G>T (p.Val1698Leu)
NM_173630.4(RTTN):c.5099C>T (p.Pro1700Leu)
NM_173630.4(RTTN):c.5131C>G (p.Pro1711Ala) rs2144837288
NM_173630.4(RTTN):c.5165T>C (p.Ile1722Thr)
NM_173630.4(RTTN):c.5185+1G>A rs1555707336
NM_173630.4(RTTN):c.5186-1G>C
NM_173630.4(RTTN):c.5186-1_5188del
NM_173630.4(RTTN):c.5186-4A>G rs28599773
NM_173630.4(RTTN):c.5186-4A>T
NM_173630.4(RTTN):c.5186-53G>A rs7238844
NM_173630.4(RTTN):c.5186-5del
NM_173630.4(RTTN):c.5201C>G (p.Ser1734Ter)
NM_173630.4(RTTN):c.5209T>C (p.Tyr1737His)
NM_173630.4(RTTN):c.5255G>A (p.Arg1752Lys)
NM_173630.4(RTTN):c.525T>G (p.Phe175Leu)
NM_173630.4(RTTN):c.5269A>G (p.Ile1757Val)
NM_173630.4(RTTN):c.5272A>C (p.Thr1758Pro)
NM_173630.4(RTTN):c.5279C>T (p.Pro1760Leu)
NM_173630.4(RTTN):c.5293G>A (p.Ala1765Thr)
NM_173630.4(RTTN):c.5304G>A (p.Lys1768=)
NM_173630.4(RTTN):c.5305C>A (p.His1769Asn)
NM_173630.4(RTTN):c.5315C>G (p.Ala1772Gly) rs200631915
NM_173630.4(RTTN):c.5315C>T (p.Ala1772Val) rs200631915
NM_173630.4(RTTN):c.5316G>A (p.Ala1772=)
NM_173630.4(RTTN):c.5318C>T (p.Ala1773Val)
NM_173630.4(RTTN):c.5319G>C (p.Ala1773=) rs35439940
NM_173630.4(RTTN):c.5323+10T>A
NM_173630.4(RTTN):c.5323+2T>C
NM_173630.4(RTTN):c.5323+7_5323+9del rs770541694
NM_173630.4(RTTN):c.5542-9del rs560969810
NM_173630.4(RTTN):c.5546A>G (p.Tyr1849Cys)
NM_173630.4(RTTN):c.5553G>T (p.Gly1851=)
NM_173630.4(RTTN):c.5561C>T (p.Ser1854Phe)
NM_173630.4(RTTN):c.5572C>G (p.Leu1858Val) rs777149582
NM_173630.4(RTTN):c.5573T>A (p.Leu1858Gln) rs1294570118
NM_173630.4(RTTN):c.5580A>G (p.Arg1860=)
NM_173630.4(RTTN):c.5582T>G (p.Val1861Gly)
NM_173630.4(RTTN):c.5583A>T (p.Val1861=)
NM_173630.4(RTTN):c.5592T>C (p.Asn1864=)
NM_173630.4(RTTN):c.5604A>G (p.Ser1868=)
NM_173630.4(RTTN):c.5638G>A (p.Ala1880Thr)
NM_173630.4(RTTN):c.563T>C (p.Leu188Pro) rs2146165717
NM_173630.4(RTTN):c.5643G>C (p.Leu1881Phe) rs2145592855
NM_173630.4(RTTN):c.5648-5T>A rs1256028809
NM_173630.4(RTTN):c.5649C>A (p.Ala1883=)
NM_173630.4(RTTN):c.5656A>G (p.Ile1886Val)
NM_173630.4(RTTN):c.5668A>G (p.Met1890Val)
NM_173630.4(RTTN):c.5720C>T (p.Pro1907Leu)
NM_173630.4(RTTN):c.5724G>A (p.Gly1908=)
NM_173630.4(RTTN):c.5734T>C (p.Leu1912=)
NM_173630.4(RTTN):c.5743A>C (p.Lys1915Gln) rs2145587107
NM_173630.4(RTTN):c.5745+19T>C
NM_173630.4(RTTN):c.5745+19T>G
NM_173630.4(RTTN):c.5745+205A>G rs142318554
NM_173630.4(RTTN):c.5745+27TA[2] rs200091480
NM_173630.4(RTTN):c.5746-4A>C
NM_173630.4(RTTN):c.5747del (p.Glu1916fs)
NM_173630.4(RTTN):c.5761_5775del (p.Lys1921_Ile1925del) rs757580606
NM_173630.4(RTTN):c.5763A>G (p.Lys1921=)
NM_173630.4(RTTN):c.578+13A>G
NM_173630.4(RTTN):c.578+15G>T
NM_173630.4(RTTN):c.578+4C>T
NM_173630.4(RTTN):c.578+5G>A
NM_173630.4(RTTN):c.579-13C>T
NM_173630.4(RTTN):c.5823+13A>G rs2145578397
NM_173630.4(RTTN):c.5823+204C>T rs73970821
NM_173630.4(RTTN):c.5823+5_5823+20del rs1192455464
NM_173630.4(RTTN):c.5823+86del rs137968383
NM_173630.4(RTTN):c.5823A>G (p.Lys1941=)
NM_173630.4(RTTN):c.5824-9C>T
NM_173630.4(RTTN):c.5845C>A (p.Leu1949Ile)
NM_173630.4(RTTN):c.5850C>G (p.Val1950=)
NM_173630.4(RTTN):c.5862C>T (p.His1954=)
NM_173630.4(RTTN):c.5877G>A (p.Trp1959Ter) rs373987090
NM_173630.4(RTTN):c.5890G>A (p.Asp1964Asn) rs2056806590
NM_173630.4(RTTN):c.5896T>C (p.Leu1966=)
NM_173630.4(RTTN):c.5900T>G (p.Met1967Arg)
NM_173630.4(RTTN):c.5909C>A (p.Ser1970Tyr)
NM_173630.4(RTTN):c.5917C>T (p.Leu1973Phe)
NM_173630.4(RTTN):c.5930A>G (p.Tyr1977Cys) rs2056805055
NM_173630.4(RTTN):c.5933C>T (p.Thr1978Ile)
NM_173630.4(RTTN):c.5936C>T (p.Ala1979Val)
NM_173630.4(RTTN):c.5938A>G (p.Asn1980Asp)
NM_173630.4(RTTN):c.5947A>G (p.Asn1983Asp)
NM_173630.4(RTTN):c.5950+12C>T
NM_173630.4(RTTN):c.5950+20C>T
NM_173630.4(RTTN):c.5950+210C>T rs73970817
NM_173630.4(RTTN):c.5951-47_5951-14dup
NM_173630.4(RTTN):c.5971T>G (p.Ser1991Ala)
NM_173630.4(RTTN):c.5976T>C (p.Ser1992=) rs2145523586
NM_173630.4(RTTN):c.597C>T (p.Asn199=)
NM_173630.4(RTTN):c.5998G>C (p.Ala2000Pro)
NM_173630.4(RTTN):c.5T>G (p.Val2Gly) rs747799533
NM_173630.4(RTTN):c.6005A>G (p.His2002Arg)
NM_173630.4(RTTN):c.6016G>A (p.Val2006Met)
NM_173630.4(RTTN):c.601A>C (p.Thr201Pro)
NM_173630.4(RTTN):c.6023A>G (p.Asn2008Ser)
NM_173630.4(RTTN):c.602C>T (p.Thr201Ile)
NM_173630.4(RTTN):c.6042C>A (p.Ile2014=)
NM_173630.4(RTTN):c.6051G>A (p.Leu2017=)
NM_173630.4(RTTN):c.6067C>G (p.Leu2023Val)
NM_173630.4(RTTN):c.6080C>G (p.Thr2027Arg) rs199546509
NM_173630.4(RTTN):c.6115C>T (p.Leu2039=)
NM_173630.4(RTTN):c.6125C>T (p.Ser2042Leu)
NM_173630.4(RTTN):c.6134G>A (p.Cys2045Tyr)
NM_173630.4(RTTN):c.6149A>G (p.Gln2050Arg) rs2145521626
NM_173630.4(RTTN):c.6153+11A>G
NM_173630.4(RTTN):c.6153+20A>G
NM_173630.4(RTTN):c.6153+4C>T
NM_173630.4(RTTN):c.6154-16_6154-13del rs765143937
NM_173630.4(RTTN):c.6154-5C>T
NM_173630.4(RTTN):c.6158A>G (p.Asn2053Ser)
NM_173630.4(RTTN):c.6179C>T (p.Ser2060Phe)
NM_173630.4(RTTN):c.6187T>C (p.Leu2063=) rs748843954
NM_173630.4(RTTN):c.618C>T (p.Thr206=)
NM_173630.4(RTTN):c.6199G>A (p.Gly2067Arg)
NM_173630.4(RTTN):c.61G>A (p.Ala21Thr) rs368406992
NM_173630.4(RTTN):c.6209A>C (p.His2070Pro)
NM_173630.4(RTTN):c.6209A>T (p.His2070Leu) rs764347798
NM_173630.4(RTTN):c.6210T>C (p.His2070=)
NM_173630.4(RTTN):c.6226A>T (p.Ile2076Phe) rs554677788
NM_173630.4(RTTN):c.624A>G (p.Glu208=)
NM_173630.4(RTTN):c.6268G>C (p.Asp2090His)
NM_173630.4(RTTN):c.6276A>G (p.Gln2092=)
NM_173630.4(RTTN):c.6290G>C (p.Arg2097Thr)
NM_173630.4(RTTN):c.6292C>T (p.Leu2098Phe) rs1349092201
NM_173630.4(RTTN):c.62C>T (p.Ala21Val) rs2146209019
NM_173630.4(RTTN):c.6312A>T (p.Leu2104Phe)
NM_173630.4(RTTN):c.6334A>G (p.Lys2112Glu)
NM_173630.4(RTTN):c.6339C>T (p.His2113=) rs1201086381
NM_173630.4(RTTN):c.6358C>T (p.Pro2120Ser)
NM_173630.4(RTTN):c.6359C>T (p.Pro2120Leu)
NM_173630.4(RTTN):c.636T>C (p.Asp212=)
NM_173630.4(RTTN):c.6398del (p.Asn2133fs) rs2145501058
NM_173630.4(RTTN):c.6409A>T (p.Ile2137Phe) rs794727682
NM_173630.4(RTTN):c.6412C>A (p.Leu2138Met)
NM_173630.4(RTTN):c.6413T>A (p.Leu2138Gln) rs2056572982
NM_173630.4(RTTN):c.6415G>T (p.Ala2139Ser) rs2145500874
NM_173630.4(RTTN):c.6417T>A (p.Ala2139=) rs141934309
NM_173630.4(RTTN):c.6417T>C (p.Ala2139=) rs141934309
NM_173630.4(RTTN):c.6421+16C>T
NM_173630.4(RTTN):c.6421+9T>C
NM_173630.4(RTTN):c.6422-16A>G rs373120534
NM_173630.4(RTTN):c.6422-207C>T rs17081967
NM_173630.4(RTTN):c.6448T>A (p.Cys2150Ser)
NM_173630.4(RTTN):c.6449G>T (p.Cys2150Phe)
NM_173630.4(RTTN):c.6458G>A (p.Ser2153Asn)
NM_173630.4(RTTN):c.6465T>A (p.Asn2155Lys)
NM_173630.4(RTTN):c.6471T>C (p.Asn2157=)
NM_173630.4(RTTN):c.6479G>A (p.Arg2160Lys)
NM_173630.4(RTTN):c.6488C>G (p.Ala2163Gly)
NM_173630.4(RTTN):c.6518A>G (p.Tyr2173Cys)
NM_173630.4(RTTN):c.6525+10A>T
NM_173630.4(RTTN):c.6525+18T>C
NM_173630.4(RTTN):c.6526-10A>T
NM_173630.4(RTTN):c.6526-14A>G
NM_173630.4(RTTN):c.6526-18A>C
NM_173630.4(RTTN):c.6526-8T>C
NM_173630.4(RTTN):c.6567G>A (p.Val2189=)
NM_173630.4(RTTN):c.6595+165_6595+168del rs545009598
NM_173630.4(RTTN):c.6596-16T>C
NM_173630.4(RTTN):c.6596-278A>G rs145054997
NM_173630.4(RTTN):c.6596-7A>G
NM_173630.4(RTTN):c.6596C>T (p.Thr2199Ile) rs750094600
NM_173630.4(RTTN):c.6620C>G (p.Pro2207Arg)
NM_173630.4(RTTN):c.6624A>G (p.Leu2208=)
NM_173630.4(RTTN):c.6627T>C (p.Asn2209=)
NM_173630.4(RTTN):c.6629C>T (p.Ala2210Val)
NM_173630.4(RTTN):c.6630C>G (p.Ala2210=)
NM_173630.4(RTTN):c.6638T>C (p.Leu2213Ser) rs2145420319
NM_173630.4(RTTN):c.6642A>G (p.Lys2214=) rs1555689767
NM_173630.4(RTTN):c.6658G>C (p.Val2220Leu)
NM_173630.4(RTTN):c.666T>C (p.Ile222=)
NM_173630.4(RTTN):c.6679T>A (p.Ter2227Arg)
NM_173630.4(RTTN):c.678G>A (p.Arg226=)
NM_173630.4(RTTN):c.693+10C>T
NM_173630.4(RTTN):c.693+17A>G
NM_173630.4(RTTN):c.693+1G>T
NM_173630.4(RTTN):c.693+330C>G rs79226724
NM_173630.4(RTTN):c.693+38G>C rs116130278
NM_173630.4(RTTN):c.694-11C>G
NM_173630.4(RTTN):c.694-74T>G rs79879463
NM_173630.4(RTTN):c.696C>G (p.Ser232Arg)
NM_173630.4(RTTN):c.696C>T (p.Ser232=)
NM_173630.4(RTTN):c.6C>T (p.Val2=)
NM_173630.4(RTTN):c.703T>C (p.Ser235Pro)
NM_173630.4(RTTN):c.705T>C (p.Ser235=)
NM_173630.4(RTTN):c.725_726insGGG (p.Gly242_Asp243insGly)
NM_173630.4(RTTN):c.725_727dup (p.Gly242dup) rs58913700
NM_173630.4(RTTN):c.740G>A (p.Arg247His) rs539725498
NM_173630.4(RTTN):c.756G>A (p.Ser252=)
NM_173630.4(RTTN):c.771G>T (p.Gln257His)
NM_173630.4(RTTN):c.781A>G (p.Met261Val)
NM_173630.4(RTTN):c.78C>G (p.Leu26=)
NM_173630.4(RTTN):c.78C>T (p.Leu26=)
NM_173630.4(RTTN):c.803A>G (p.Asn268Ser)
NM_173630.4(RTTN):c.805T>G (p.Phe269Val) rs141156594
NM_173630.4(RTTN):c.808C>T (p.His270Tyr)
NM_173630.4(RTTN):c.81C>T (p.Cys27=) rs2146208815
NM_173630.4(RTTN):c.841+19T>G rs189347156
NM_173630.4(RTTN):c.841+1G>A rs2146138982
NM_173630.4(RTTN):c.841+204del rs34150741
NM_173630.4(RTTN):c.841+4T>G
NM_173630.4(RTTN):c.841+6T>G
NM_173630.4(RTTN):c.842-12_842-11del
NM_173630.4(RTTN):c.842A>G (p.Asp281Gly)
NM_173630.4(RTTN):c.852C>T (p.Ser284=)
NM_173630.4(RTTN):c.898C>T (p.His300Tyr)
NM_173630.4(RTTN):c.934C>T (p.Arg312Trp)
NM_173630.4(RTTN):c.954C>T (p.Arg318=)
NM_173630.4(RTTN):c.964C>T (p.Arg322Ter)
NM_173630.4(RTTN):c.965G>A (p.Arg322Gln)
NM_173630.4(RTTN):c.978T>C (p.Asp326=) rs771371692
NM_173630.4(RTTN):c.981C>T (p.Gly327=)

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