ClinVar Miner

List of variants in gene RTTN reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 370
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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.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.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.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.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.2355T>C (p.Ser785=) rs200600259 0.00029
NM_173630.4(RTTN):c.488-15C>T rs182610959 0.00029
NM_173630.4(RTTN):c.6080C>T (p.Thr2027Met) rs199546509 0.00025
NM_173630.4(RTTN):c.86T>C (p.Ile29Thr) rs201689582 0.00021
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.708G>T (p.Leu236=) rs201505457 0.00017
NM_173630.4(RTTN):c.2670+9A>G rs200758402 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.5055A>G (p.Leu1685=) rs372431222 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.3137C>T (p.Thr1046Met) rs200976618 0.00010
NM_173630.4(RTTN):c.80G>A (p.Cys27Tyr) rs201884120 0.00010
NM_173630.4(RTTN):c.4564+4A>C rs368489465 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.3084A>G (p.Ser1028=) rs764877763 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.4877C>T (p.Thr1626Met) rs781683199 0.00006
NM_173630.4(RTTN):c.5264G>C (p.Gly1755Ala) rs569445270 0.00006
NM_173630.4(RTTN):c.1710A>C (p.Glu570Asp) rs761130082 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.3037G>A (p.Ala1013Thr) rs748254074 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.1768C>T (p.Leu590=) rs752422245 0.00003
NM_173630.4(RTTN):c.3436A>G (p.Ile1146Val) rs759726597 0.00003
NM_173630.4(RTTN):c.723T>A (p.Phe241Leu) rs2365902 0.00003
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.1963G>A (p.Val655Met) rs747101627 0.00002
NM_173630.4(RTTN):c.2101C>T (p.Arg701Ter) rs932327641 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.1444C>T (p.Arg482Ter) rs752150024 0.00001
NM_173630.4(RTTN):c.207C>A (p.Ser69Arg) rs1447774690 0.00001
NM_173630.4(RTTN):c.2309C>T (p.Ser770Leu) rs757093991 0.00001
NM_173630.4(RTTN):c.2552C>T (p.Ala851Val) rs374285374 0.00001
NM_173630.4(RTTN):c.2738T>C (p.Met913Thr) rs1064796431 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.3250A>G (p.Thr1084Ala) rs761597986 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.4754A>G (p.Gln1585Arg) rs1409042373 0.00001
NM_173630.4(RTTN):c.4932T>G (p.Leu1644=) rs1057521884 0.00001
NM_173630.4(RTTN):c.5000C>T (p.Ser1667Leu) rs374879832 0.00001
NM_173630.4(RTTN):c.5647+10A>G rs1057523916 0.00001
NM_173630.4(RTTN):c.6301T>C (p.Cys2101Arg) rs201253231 0.00001
NM_173630.4(RTTN):c.796A>T (p.Arg266Ter) rs1131691284 0.00001
NC_000018.10:g.70205914del rs200984342
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+92dup rs35759421
NM_173630.4(RTTN):c.1471G>C (p.Glu491Gln)
NM_173630.4(RTTN):c.1476+295_1476+298del rs372590513
NM_173630.4(RTTN):c.1550A>C (p.Glu517Ala)
NM_173630.4(RTTN):c.1685A>G (p.Lys562Arg)
NM_173630.4(RTTN):c.1690-164C>A rs7227882
NM_173630.4(RTTN):c.1811C>T (p.Ser604Phe)
NM_173630.4(RTTN):c.1838G>C (p.Gly613Ala) rs749520981
NM_173630.4(RTTN):c.187G>A (p.Glu63Lys)
NM_173630.4(RTTN):c.1925C>G (p.Thr642Arg) rs760276630
NM_173630.4(RTTN):c.1930-151_1930-148del rs60448685
NM_173630.4(RTTN):c.1979A>T (p.Asn660Ile) rs755371922
NM_173630.4(RTTN):c.2009T>A (p.Val670Asp)
NM_173630.4(RTTN):c.2055+33G>C rs116715798
NM_173630.4(RTTN):c.223C>G (p.Pro75Ala)
NM_173630.4(RTTN):c.2309+950T>C rs9963733
NM_173630.4(RTTN):c.2480A>G (p.Lys827Arg)
NM_173630.4(RTTN):c.2482-10del rs747938327
NM_173630.4(RTTN):c.2482-24dup rs747938327
NM_173630.4(RTTN):c.2482-26dup rs374045309
NM_173630.4(RTTN):c.253G>A (p.Gly85Ser)
NM_173630.4(RTTN):c.2551G>C (p.Ala851Pro)
NM_173630.4(RTTN):c.2636A>T (p.Glu879Val) rs1403643500
NM_173630.4(RTTN):c.2753C>A (p.Ser918Ter) rs759249497
NM_173630.4(RTTN):c.27A>G (p.Lys9=) rs1555784718
NM_173630.4(RTTN):c.2885+245del rs199598647
NM_173630.4(RTTN):c.2927T>C (p.Phe976Ser) rs886039611
NM_173630.4(RTTN):c.2955-174del rs142593943
NM_173630.4(RTTN):c.3032G>T (p.Cys1011Phe)
NM_173630.4(RTTN):c.3143+144C>A rs116794642
NM_173630.4(RTTN):c.3157T>C (p.Leu1053=) rs1599682423
NM_173630.4(RTTN):c.3321G>A (p.Lys1107=) rs147728279
NM_173630.4(RTTN):c.3384-4A>G rs1455491554
NM_173630.4(RTTN):c.3494T>A (p.Leu1165His)
NM_173630.4(RTTN):c.3589_3590del (p.Thr1196_Asp1197insTer) rs886041460
NM_173630.4(RTTN):c.3682A>C (p.Arg1228=)
NM_173630.4(RTTN):c.3830C>T (p.Pro1277Leu)
NM_173630.4(RTTN):c.3850C>A (p.Pro1284Thr) rs377399910
NM_173630.4(RTTN):c.3871A>T (p.Ile1291Phe)
NM_173630.4(RTTN):c.3873C>G (p.Ile1291Met) rs1555733799
NM_173630.4(RTTN):c.4033-158_4033-157del rs139499965
NM_173630.4(RTTN):c.4033-93G>T rs4891394
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.4374G>A (p.Gln1458=) rs1459805081
NM_173630.4(RTTN):c.4375-24C>T rs285228
NM_173630.4(RTTN):c.455T>G (p.Phe152Cys)
NM_173630.4(RTTN):c.4564+142A>G rs11665578
NM_173630.4(RTTN):c.4564+5G>T rs1020739065
NM_173630.4(RTTN):c.4565-125C>G rs73964495
NM_173630.4(RTTN):c.4565-148del rs879380082
NM_173630.4(RTTN):c.4565-6_4565-4del rs775033795
NM_173630.4(RTTN):c.4763C>T (p.Thr1588Ile)
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.4880T>G (p.Ile1627Ser) rs778267549
NM_173630.4(RTTN):c.4903G>C (p.Ala1635Pro) rs2144893429
NM_173630.4(RTTN):c.4940+111T>C rs11876398
NM_173630.4(RTTN):c.4957C>T (p.Leu1653Phe)
NM_173630.4(RTTN):c.5031+138C>G rs17805883
NM_173630.4(RTTN):c.5092G>T (p.Val1698Leu)
NM_173630.4(RTTN):c.5186-4A>G rs28599773
NM_173630.4(RTTN):c.5186-53G>A rs7238844
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.5319G>C (p.Ala1773=) rs35439940
NM_173630.4(RTTN):c.5323+7_5323+9del rs770541694
NM_173630.4(RTTN):c.5542-9del rs560969810
NM_173630.4(RTTN):c.5572C>G (p.Leu1858Val) rs777149582
NM_173630.4(RTTN):c.5745+205A>G rs142318554
NM_173630.4(RTTN):c.5745+27TA[2] rs200091480
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.5950+210C>T rs73970817
NM_173630.4(RTTN):c.5971T>G (p.Ser1991Ala)
NM_173630.4(RTTN):c.602C>T (p.Thr201Ile)
NM_173630.4(RTTN):c.6134G>A (p.Cys2045Tyr)
NM_173630.4(RTTN):c.6149A>G (p.Gln2050Arg) rs2145521626
NM_173630.4(RTTN):c.61G>A (p.Ala21Thr) rs368406992
NM_173630.4(RTTN):c.6339C>T (p.His2113=) rs1201086381
NM_173630.4(RTTN):c.6409A>T (p.Ile2137Phe) rs794727682
NM_173630.4(RTTN):c.6417T>C (p.Ala2139=) rs141934309
NM_173630.4(RTTN):c.6422-207C>T rs17081967
NM_173630.4(RTTN):c.6449G>T (p.Cys2150Phe)
NM_173630.4(RTTN):c.6595+165_6595+168del rs545009598
NM_173630.4(RTTN):c.6596-278A>G rs145054997
NM_173630.4(RTTN):c.6642A>G (p.Lys2214=) rs1555689767
NM_173630.4(RTTN):c.693+330C>G rs79226724
NM_173630.4(RTTN):c.693+38G>C rs116130278
NM_173630.4(RTTN):c.694-74T>G rs79879463
NM_173630.4(RTTN):c.725_727dup (p.Gly242dup) rs58913700
NM_173630.4(RTTN):c.771G>T (p.Gln257His)
NM_173630.4(RTTN):c.805T>G (p.Phe269Val) rs141156594
NM_173630.4(RTTN):c.841+204del rs34150741

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