List of variants in gene RTTN reported as uncertain significance

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 501

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HGVS	dbSNP	gnomAD frequency
NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr)	rs34989098	0.00624
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.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.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.630G>C (p.Leu210Phe)	rs201538332	0.00063
NM_173630.4(RTTN):c.2568T>A (p.Ala856=)	rs370998068	0.00061
NM_173630.4(RTTN):c.1676A>C (p.Asp559Ala)	rs201443817	0.00049
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.4360G>T (p.Asp1454Tyr)	rs199965041	0.00037
NM_173630.4(RTTN):c.5916G>C (p.Gln1972His)	rs201267273	0.00037
NM_173630.4(RTTN):c.4298G>A (p.Arg1433Gln)	rs75356692	0.00036
NM_173630.4(RTTN):c.2355T>C (p.Ser785=)	rs200600259	0.00029
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.1741A>G (p.Ser581Gly)	rs375800180	0.00021
NM_173630.4(RTTN):c.86T>C (p.Ile29Thr)	rs201689582	0.00021
NM_173630.4(RTTN):c.4502G>A (p.Arg1501Gln)	rs371160845	0.00019
NM_173630.4(RTTN):c.169T>C (p.Ser57Pro)	rs376558320	0.00018
NM_173630.4(RTTN):c.719C>T (p.Ala240Val)	rs201226318	0.00017
NM_173630.4(RTTN):c.3238G>A (p.Val1080Ile)	rs201548591	0.00016
NM_173630.4(RTTN):c.2912C>T (p.Ser971Phe)	rs201796504	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.2318C>T (p.Ser773Leu)	rs375642538	0.00013
NM_173630.4(RTTN):c.590G>A (p.Ser197Asn)	rs549561642	0.00013
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.5200T>G (p.Ser1734Ala)	rs111886844	0.00011
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.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.952C>T (p.Arg318Cys)	rs373643907	0.00009
NM_173630.4(RTTN):c.2523T>A (p.Asp841Glu)	rs371829976	0.00008
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.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.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.1710A>C (p.Glu570Asp)	rs761130082	0.00005
NM_173630.4(RTTN):c.1880T>C (p.Leu627Ser)	rs201273368	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.1357C>T (p.His453Tyr)	rs532836432	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.3991C>T (p.Leu1331Phe)	rs778372992	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.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.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.4728T>A (p.His1576Gln)	rs182319351	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.723T>A (p.Phe241Leu)	rs2365902	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.1751A>G (p.Tyr584Cys)	rs200801705	0.00002
NM_173630.4(RTTN):c.1869G>T (p.Leu623Phe)	rs757634334	0.00002
NM_173630.4(RTTN):c.1963G>A (p.Val655Met)	rs747101627	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.61G>T (p.Ala21Ser)	rs368406992	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.1271T>C (p.Ile424Thr)	rs773064590	0.00001
NM_173630.4(RTTN):c.1273T>G (p.Trp425Gly)	rs200035293	0.00001
NM_173630.4(RTTN):c.1430C>G (p.Ser477Cys)	rs777309515	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.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.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.2309C>T (p.Ser770Leu)	rs757093991	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.2921C>T (p.Ser974Leu)	rs1284338810	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.3337T>C (p.Cys1113Arg)	rs587780442	0.00001
NM_173630.4(RTTN):c.3346A>G (p.Thr1116Ala)	rs2059896238	0.00001
NM_173630.4(RTTN):c.3492A>C (p.Glu1164Asp)	rs865910770	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.4306G>T (p.Ala1436Ser)	rs769446702	0.00001
NM_173630.4(RTTN):c.4327C>T (p.Leu1443Phe)	rs980776312	0.00001
NM_173630.4(RTTN):c.4430T>G (p.Leu1477Arg)	rs753624472	0.00001
NM_173630.4(RTTN):c.4526C>G (p.Ser1509Cys)	rs2058400959	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.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.5690A>T (p.Asn1897Ile)	rs746926127	0.00001
NM_173630.4(RTTN):c.5810A>G (p.Asn1937Ser)	rs1421920938	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.6433A>G (p.Thr2145Ala)	rs996914209	0.00001
NM_173630.4(RTTN):c.6443C>A (p.Ala2148Asp)	rs757807524	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.96C>G (p.Asn32Lys)	rs373704963	0.00001
NM_173630.4(RTTN):c.998C>T (p.Ala333Val)	rs577076002	0.00001
GRCh37/hg19 18q22.2(chr18:67653251-67708740)
GRCh37/hg19 18q22.2(chr18:67653252-67734826)x1
GRCh37/hg19 18q22.2(chr18:67753977-67788395)
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.67742689_67765169dup
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.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.1193G>C (p.Ser398Thr)
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.1298T>C (p.Ile433Thr)
NM_173630.4(RTTN):c.1305+6A>G
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.1481G>A (p.Ser494Asn)
NM_173630.4(RTTN):c.1482C>G (p.Ser494Arg)	rs373681156
NM_173630.4(RTTN):c.1483G>A (p.Glu495Lys)
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.1673C>A (p.Ser558Tyr)	rs777233196
NM_173630.4(RTTN):c.1673C>T (p.Ser558Phe)
NM_173630.4(RTTN):c.1679T>C (p.Ile560Thr)
NM_173630.4(RTTN):c.1685A>G (p.Lys562Arg)
NM_173630.4(RTTN):c.1724C>G (p.Ala575Gly)
NM_173630.4(RTTN):c.1788C>G (p.Ser596Arg)
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.1925C>G (p.Thr642Arg)	rs760276630
NM_173630.4(RTTN):c.1940G>A (p.Gly647Asp)
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.2047G>A (p.Glu683Lys)
NM_173630.4(RTTN):c.2055+15A>G
NM_173630.4(RTTN):c.2059A>G (p.Asn687Asp)
NM_173630.4(RTTN):c.2099G>A (p.Gly700Glu)
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.2201G>A (p.Gly734Asp)	rs2145782871
NM_173630.4(RTTN):c.2203A>G (p.Asn735Asp)	rs2060468580
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.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.2310-11T>G
NM_173630.4(RTTN):c.2315G>A (p.Arg772His)
NM_173630.4(RTTN):c.2323G>A (p.Ala775Thr)
NM_173630.4(RTTN):c.2345A>T (p.His782Leu)
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+6T>C	rs367787928
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.2585T>C (p.Ile862Thr)
NM_173630.4(RTTN):c.25A>G (p.Lys9Glu)
NM_173630.4(RTTN):c.2621T>C (p.Ile874Thr)
NM_173630.4(RTTN):c.2636A>T (p.Glu879Val)	rs1403643500
NM_173630.4(RTTN):c.2650T>C (p.Cys884Arg)
NM_173630.4(RTTN):c.2680T>C (p.Cys894Arg)
NM_173630.4(RTTN):c.2692C>T (p.Pro898Ser)
NM_173630.4(RTTN):c.26A>G (p.Lys9Arg)
NM_173630.4(RTTN):c.2716G>T (p.Val906Phe)
NM_173630.4(RTTN):c.274A>C (p.Lys92Gln)
NM_173630.4(RTTN):c.2753C>T (p.Ser918Leu)
NM_173630.4(RTTN):c.2776G>A (p.Val926Met)
NM_173630.4(RTTN):c.2789-1G>C	rs1467484094
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.2883G>A (p.Met961Ile)
NM_173630.4(RTTN):c.2912C>G (p.Ser971Cys)
NM_173630.4(RTTN):c.2944G>A (p.Val982Ile)
NM_173630.4(RTTN):c.2954+6G>T
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.3032G>T (p.Cys1011Phe)
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.3128A>G (p.Glu1043Gly)
NM_173630.4(RTTN):c.3166T>C (p.Ser1056Pro)
NM_173630.4(RTTN):c.3233C>A (p.Ser1078Tyr)
NM_173630.4(RTTN):c.3236_3237delinsGG (p.Ile1079Arg)
NM_173630.4(RTTN):c.3248C>T (p.Ala1083Val)
NM_173630.4(RTTN):c.3261A>T (p.Glu1087Asp)	rs1382410101
NM_173630.4(RTTN):c.331G>C (p.Gly111Arg)
NM_173630.4(RTTN):c.3321G>C (p.Lys1107Asn)	rs147728279
NM_173630.4(RTTN):c.3373G>A (p.Ala1125Thr)	rs183531175
NM_173630.4(RTTN):c.3373G>T (p.Ala1125Ser)
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.3494T>A (p.Leu1165His)
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.3586A>G (p.Thr1196Ala)
NM_173630.4(RTTN):c.3593A>G (p.Asp1198Gly)
NM_173630.4(RTTN):c.3596T>C (p.Ile1199Thr)
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.3706G>A (p.Val1236Ile)
NM_173630.4(RTTN):c.3714A>G (p.Gln1238=)
NM_173630.4(RTTN):c.374C>T (p.Ala125Val)
NM_173630.4(RTTN):c.3755C>T (p.Thr1252Met)
NM_173630.4(RTTN):c.3764C>T (p.Pro1255Leu)
NM_173630.4(RTTN):c.376T>A (p.Ser126Thr)	rs3911730
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.3850C>A (p.Pro1284Thr)	rs377399910
NM_173630.4(RTTN):c.3863C>T (p.Pro1288Leu)	rs554362605
NM_173630.4(RTTN):c.3871A>T (p.Ile1291Phe)
NM_173630.4(RTTN):c.3873C>G (p.Ile1291Met)	rs1555733799
NM_173630.4(RTTN):c.3903+4A>C
NM_173630.4(RTTN):c.3928C>T (p.Arg1310Cys)
NM_173630.4(RTTN):c.3929G>T (p.Arg1310Leu)
NM_173630.4(RTTN):c.398A>T (p.Glu133Val)
NM_173630.4(RTTN):c.39G>T (p.Gln13His)	rs1441727786
NM_173630.4(RTTN):c.4003C>T (p.His1335Tyr)
NM_173630.4(RTTN):c.4014G>A (p.Met1338Ile)
NM_173630.4(RTTN):c.4064G>A (p.Gly1355Asp)
NM_173630.4(RTTN):c.4066A>G (p.Ser1356Gly)	rs2058867155
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.4133G>A (p.Arg1378Gln)
NM_173630.4(RTTN):c.4162G>A (p.Gly1388Arg)
NM_173630.4(RTTN):c.4190A>C (p.Glu1397Ala)
NM_173630.4(RTTN):c.4225A>C (p.Asn1409His)
NM_173630.4(RTTN):c.424A>G (p.Thr142Ala)	rs1180345951
NM_173630.4(RTTN):c.4275G>C (p.Gln1425His)
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+3A>G
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.4376G>A (p.Gly1459Asp)
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.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.455T>G (p.Phe152Cys)
NM_173630.4(RTTN):c.4561A>T (p.Asn1521Tyr)	rs2145070822
NM_173630.4(RTTN):c.4564+5G>T	rs1020739065
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.4619G>A (p.Arg1540Gln)
NM_173630.4(RTTN):c.4633C>G (p.Leu1545Val)
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.4661C>T (p.Pro1554Leu)
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.473C>T (p.Pro158Leu)
NM_173630.4(RTTN):c.4746A>G (p.Gln1582=)
NM_173630.4(RTTN):c.4751A>G (p.His1584Arg)
NM_173630.4(RTTN):c.4759A>C (p.Ser1587Arg)	rs2144895777
NM_173630.4(RTTN):c.4763C>T (p.Thr1588Ile)
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+2T>G	rs2061961914
NM_173630.4(RTTN):c.487+4T>A
NM_173630.4(RTTN):c.487+7A>G
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.4932_4934del (p.Leu1645del)	rs767841109
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.499G>A (p.Val167Met)	rs774390301
NM_173630.4(RTTN):c.5003C>T (p.Ser1668Leu)
NM_173630.4(RTTN):c.5049A>T (p.Glu1683Asp)	rs1599300112
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.5186-1G>C
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.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.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.5546A>G (p.Tyr1849Cys)
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.5582T>G (p.Val1861Gly)
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.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.5743A>C (p.Lys1915Gln)	rs2145587107
NM_173630.4(RTTN):c.5761_5775del (p.Lys1921_Ile1925del)	rs757580606
NM_173630.4(RTTN):c.578+4C>T
NM_173630.4(RTTN):c.578+5G>A
NM_173630.4(RTTN):c.5823+5_5823+20del	rs1192455464
NM_173630.4(RTTN):c.5823A>G (p.Lys1941=)
NM_173630.4(RTTN):c.5845C>A (p.Leu1949Ile)
NM_173630.4(RTTN):c.5890G>A (p.Asp1964Asn)	rs2056806590
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.5971T>G (p.Ser1991Ala)
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.6067C>G (p.Leu2023Val)
NM_173630.4(RTTN):c.6080C>G (p.Thr2027Arg)	rs199546509
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+4C>T
NM_173630.4(RTTN):c.6154-16_6154-13del	rs765143937
NM_173630.4(RTTN):c.6158A>G (p.Asn2053Ser)
NM_173630.4(RTTN):c.6179C>T (p.Ser2060Phe)
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.6226A>T (p.Ile2076Phe)	rs554677788
NM_173630.4(RTTN):c.6268G>C (p.Asp2090His)
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.6358C>T (p.Pro2120Ser)
NM_173630.4(RTTN):c.6359C>T (p.Pro2120Leu)
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.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.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.6567G>A (p.Val2189=)
NM_173630.4(RTTN):c.6596C>T (p.Thr2199Ile)	rs750094600
NM_173630.4(RTTN):c.6620C>G (p.Pro2207Arg)
NM_173630.4(RTTN):c.6629C>T (p.Ala2210Val)
NM_173630.4(RTTN):c.6642A>G (p.Lys2214=)	rs1555689767
NM_173630.4(RTTN):c.6658G>C (p.Val2220Leu)
NM_173630.4(RTTN):c.6679T>A (p.Ter2227Arg)
NM_173630.4(RTTN):c.696C>G (p.Ser232Arg)
NM_173630.4(RTTN):c.703T>C (p.Ser235Pro)
NM_173630.4(RTTN):c.740G>A (p.Arg247His)	rs539725498
NM_173630.4(RTTN):c.771G>T (p.Gln257His)
NM_173630.4(RTTN):c.781A>G (p.Met261Val)
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.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.965G>A (p.Arg322Gln)

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