NM_001256071.3(RNF213):c.8110C>T (p.Arg2704Trp)
|
rs144074554
|
0.00216
|
NM_001256071.3(RNF213):c.5947C>T (p.Arg1983Trp)
|
rs116608867
|
0.00212
|
NM_001256071.3(RNF213):c.10997T>C (p.Met3666Thr)
|
rs375097553
|
0.00034
|
NM_001256071.3(RNF213):c.10754G>A (p.Arg3585His)
|
rs372211904
|
0.00013
|
NM_001256071.3(RNF213):c.8179C>T (p.Arg2727Trp)
|
rs375688032
|
0.00010
|
NM_001256071.3(RNF213):c.1617C>A (p.Ser539Arg)
|
rs200537097
|
0.00008
|
NM_001256071.3(RNF213):c.10424-5T>A
|
rs766907090
|
0.00006
|
NM_001256071.3(RNF213):c.5707G>A (p.Glu1903Lys)
|
rs754786999
|
0.00006
|
NM_001256071.3(RNF213):c.12248C>T (p.Pro4083Leu)
|
rs371202144
|
0.00004
|
NM_001256071.3(RNF213):c.13087C>T (p.Pro4363Ser)
|
rs149230960
|
0.00004
|
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)
|
rs112735431
|
0.00004
|
NM_001256071.3(RNF213):c.440C>T (p.Pro147Leu)
|
rs749680373
|
0.00004
|
NM_001256071.3(RNF213):c.9767C>T (p.Ser3256Leu)
|
rs529113475
|
0.00004
|
NM_001256071.3(RNF213):c.6713G>T (p.Ser2238Ile)
|
rs567396131
|
0.00003
|
NM_001256071.3(RNF213):c.7456T>G (p.Phe2486Val)
|
rs1304820534
|
0.00003
|
NM_001256071.3(RNF213):c.12124G>A (p.Glu4042Lys)
|
rs1241745586
|
0.00002
|
NM_001256071.3(RNF213):c.5281A>G (p.Met1761Val)
|
rs1474000142
|
0.00002
|
NM_001256071.3(RNF213):c.6808T>A (p.Ser2270Thr)
|
rs768083947
|
0.00002
|
NM_001256071.3(RNF213):c.8203G>A (p.Gly2735Ser)
|
rs149388081
|
0.00002
|
NM_001256071.3(RNF213):c.10567G>A (p.Gly3523Arg)
|
rs547158013
|
0.00001
|
NM_001256071.3(RNF213):c.10759A>G (p.Ser3587Gly)
|
rs977735877
|
0.00001
|
NM_001256071.3(RNF213):c.10879C>T (p.Arg3627Trp)
|
rs141234263
|
0.00001
|
NM_001256071.3(RNF213):c.11540G>A (p.Trp3847Ter)
|
rs1472128114
|
0.00001
|
NM_001256071.3(RNF213):c.11920G>A (p.Val3974Met)
|
rs750689562
|
0.00001
|
NM_001256071.3(RNF213):c.14430A>C (p.Arg4810Ser)
|
rs765502583
|
0.00001
|
NM_001256071.3(RNF213):c.15212A>G (p.Gln5071Arg)
|
rs142120906
|
0.00001
|
NM_001256071.3(RNF213):c.194C>T (p.Pro65Leu)
|
rs761090898
|
0.00001
|
NM_001256071.3(RNF213):c.4528-5C>G
|
rs758680846
|
0.00001
|
NM_001256071.3(RNF213):c.5141C>T (p.Thr1714Ile)
|
rs1353450124
|
0.00001
|
NM_001256071.3(RNF213):c.5515G>A (p.Glu1839Lys)
|
rs369041141
|
0.00001
|
NM_001256071.3(RNF213):c.6710C>T (p.Pro2237Leu)
|
rs748459913
|
0.00001
|
NM_001256071.3(RNF213):c.7602G>A (p.Met2534Ile)
|
rs944185612
|
0.00001
|
NM_001256071.3(RNF213):c.9685G>C (p.Val3229Leu)
|
rs774529826
|
0.00001
|
NM_001256071.3(RNF213):c.9712G>A (p.Gly3238Ser)
|
rs1377261392
|
0.00001
|
GRCh37/hg19 17q25.3(chr17:78230729-78326769)x3
|
|
|
GRCh37/hg19 17q25.3(chr17:78331423-78348447)x1
|
|
|
NC_000017.10:g.(?_78332068)_(78341963_?)del
|
|
|
NM_001256071.3(RNF213):c.10034C>T (p.Thr3345Ile)
|
|
|
NM_001256071.3(RNF213):c.10088G>A (p.Arg3363Gln)
|
|
|
NM_001256071.3(RNF213):c.10089-8T>C
|
|
|
NM_001256071.3(RNF213):c.10336C>T (p.Arg3446Trp)
|
|
|
NM_001256071.3(RNF213):c.10496TGGCAGAGG[1] (p.3499VAE[1])
|
|
|
NM_001256071.3(RNF213):c.10591G>A (p.Asp3531Asn)
|
|
|
NM_001256071.3(RNF213):c.10676G>A (p.Arg3559Gln)
|
|
|
NM_001256071.3(RNF213):c.10875G>A (p.Trp3625Ter)
|
rs1448177811
|
|
NM_001256071.3(RNF213):c.1102G>A (p.Val368Met)
|
|
|
NM_001256071.3(RNF213):c.11066A>T (p.Glu3689Val)
|
|
|
NM_001256071.3(RNF213):c.11074T>C (p.Tyr3692His)
|
|
|
NM_001256071.3(RNF213):c.11096T>C (p.Met3699Thr)
|
|
|
NM_001256071.3(RNF213):c.11386A>G (p.Arg3796Gly)
|
|
|
NM_001256071.3(RNF213):c.1166_1167del (p.Leu389fs)
|
|
|
NM_001256071.3(RNF213):c.11695G>A (p.Asp3899Asn)
|
|
|
NM_001256071.3(RNF213):c.11779G>A (p.Ala3927Thr)
|
rs777402744
|
|
NM_001256071.3(RNF213):c.11797G>A (p.Val3933Met)
|
rs1181813391
|
|
NM_001256071.3(RNF213):c.1181A>G (p.Asn394Ser)
|
|
|
NM_001256071.3(RNF213):c.11848G>C (p.Glu3950Gln)
|
rs149449382
|
|
NM_001256071.3(RNF213):c.11893G>A (p.Val3965Met)
|
|
|
NM_001256071.3(RNF213):c.11987C>T (p.Pro3996Leu)
|
|
|
NM_001256071.3(RNF213):c.11995A>C (p.Ile3999Leu)
|
rs781152962
|
|
NM_001256071.3(RNF213):c.12023T>G (p.Val4008Gly)
|
|
|
NM_001256071.3(RNF213):c.12059G>A (p.Cys4020Tyr)
|
|
|
NM_001256071.3(RNF213):c.12094T>G (p.Cys4032Gly)
|
|
|
NM_001256071.3(RNF213):c.12165T>G (p.Ile4055Met)
|
rs2144484990
|
|
NM_001256071.3(RNF213):c.12172C>T (p.His4058Tyr)
|
|
|
NM_001256071.3(RNF213):c.12185G>A (p.Arg4062Gln)
|
rs1555676035
|
|
NM_001256071.3(RNF213):c.12266T>C (p.Ile4089Thr)
|
rs1883768320
|
|
NM_001256071.3(RNF213):c.12341C>G (p.Thr4114Arg)
|
rs2079442813
|
|
NM_001256071.3(RNF213):c.12341C>T (p.Thr4114Ile)
|
rs2079442813
|
|
NM_001256071.3(RNF213):c.12383C>T (p.Pro4128Leu)
|
rs2144488212
|
|
NM_001256071.3(RNF213):c.125C>T (p.Ala42Val)
|
|
|
NM_001256071.3(RNF213):c.12874G>A (p.Val4292Met)
|
|
|
NM_001256071.3(RNF213):c.12928G>A (p.Val4310Ile)
|
|
|
NM_001256071.3(RNF213):c.13016A>C (p.Asp4339Ala)
|
|
|
NM_001256071.3(RNF213):c.13039G>A (p.Glu4347Lys)
|
|
|
NM_001256071.3(RNF213):c.13096C>T (p.Gln4366Ter)
|
|
|
NM_001256071.3(RNF213):c.13150_13151delinsGT (p.Arg4384Val)
|
rs1555678066
|
|
NM_001256071.3(RNF213):c.13173_13178dup (p.Thr4393_Pro4394dup)
|
rs2079734111
|
|
NM_001256071.3(RNF213):c.13428+4A>C
|
|
|
NM_001256071.3(RNF213):c.13631A>T (p.His4544Leu)
|
|
|
NM_001256071.3(RNF213):c.13691G>A (p.Arg4564Gln)
|
|
|
NM_001256071.3(RNF213):c.13939C>A (p.Arg4647Ser)
|
|
|
NM_001256071.3(RNF213):c.1432C>T (p.Arg478Cys)
|
rs1460385786
|
|
NM_001256071.3(RNF213):c.14822T>G (p.Val4941Gly)
|
|
|
NM_001256071.3(RNF213):c.14824_14844dup (p.Glu4942_Val4948dup)
|
rs2144642474
|
|
NM_001256071.3(RNF213):c.14826G>C (p.Glu4942Asp)
|
|
|
NM_001256071.3(RNF213):c.14842G>A (p.Val4948Met)
|
|
|
NM_001256071.3(RNF213):c.14872C>T (p.Arg4958Trp)
|
|
|
NM_001256071.3(RNF213):c.1508C>T (p.Pro503Leu)
|
|
|
NM_001256071.3(RNF213):c.15320C>T (p.Ala5107Val)
|
|
|
NM_001256071.3(RNF213):c.15345G>C (p.Lys5115Asn)
|
|
|
NM_001256071.3(RNF213):c.15461C>T (p.Pro5154Leu)
|
|
|
NM_001256071.3(RNF213):c.1699A>G (p.Met567Val)
|
|
|
NM_001256071.3(RNF213):c.1736T>C (p.Leu579Ser)
|
rs2143387835
|
|
NM_001256071.3(RNF213):c.1789C>A (p.His597Asn)
|
rs757513532
|
|
NM_001256071.3(RNF213):c.2189T>G (p.Phe730Cys)
|
rs2143453603
|
|
NM_001256071.3(RNF213):c.2192G>A (p.Arg731Gln)
|
|
|
NM_001256071.3(RNF213):c.2272T>C (p.Phe758Leu)
|
|
|
NM_001256071.3(RNF213):c.2299_2300del (p.Leu767fs)
|
|
|
NM_001256071.3(RNF213):c.2428-7G>C
|
rs768419878
|
|
NM_001256071.3(RNF213):c.2502-11_2502-10del
|
rs751005876
|
|
NM_001256071.3(RNF213):c.2606C>A (p.Ala869Asp)
|
|
|
NM_001256071.3(RNF213):c.2692T>A (p.Ser898Thr)
|
rs1019877957
|
|
NM_001256071.3(RNF213):c.2716A>G (p.Thr906Ala)
|
|
|
NM_001256071.3(RNF213):c.2758A>G (p.Lys920Glu)
|
|
|
NM_001256071.3(RNF213):c.2968A>G (p.Ser990Gly)
|
rs1004818115
|
|
NM_001256071.3(RNF213):c.2986G>A (p.Glu996Lys)
|
|
|
NM_001256071.3(RNF213):c.3025-2A>C
|
|
|
NM_001256071.3(RNF213):c.3067C>T (p.Arg1023Trp)
|
|
|
NM_001256071.3(RNF213):c.3149A>G (p.His1050Arg)
|
|
|
NM_001256071.3(RNF213):c.3215C>T (p.Ala1072Val)
|
|
|
NM_001256071.3(RNF213):c.3373A>G (p.Lys1125Glu)
|
rs1180659875
|
|
NM_001256071.3(RNF213):c.3397_3399del (p.Gln1133del)
|
|
|
NM_001256071.3(RNF213):c.3529G>A (p.Val1177Met)
|
|
|
NM_001256071.3(RNF213):c.3574A>T (p.Asn1192Tyr)
|
|
|
NM_001256071.3(RNF213):c.3674A>G (p.Asp1225Gly)
|
|
|
NM_001256071.3(RNF213):c.3685G>C (p.Asp1229His)
|
rs1180598847
|
|
NM_001256071.3(RNF213):c.3738G>C (p.Glu1246Asp)
|
|
|
NM_001256071.3(RNF213):c.3868C>T (p.His1290Tyr)
|
|
|
NM_001256071.3(RNF213):c.4000G>A (p.Asp1334Asn)
|
|
|
NM_001256071.3(RNF213):c.4031A>G (p.Lys1344Arg)
|
rs2046444243
|
|
NM_001256071.3(RNF213):c.4070A>G (p.Lys1357Arg)
|
|
|
NM_001256071.3(RNF213):c.4132_4133del (p.Leu1378fs)
|
rs2143979868
|
|
NM_001256071.3(RNF213):c.4402G>A (p.Ala1468Thr)
|
|
|
NM_001256071.3(RNF213):c.4421C>T (p.Ser1474Phe)
|
|
|
NM_001256071.3(RNF213):c.4515_4516delinsTT (p.Pro1506Ser)
|
|
|
NM_001256071.3(RNF213):c.4519A>G (p.Arg1507Gly)
|
|
|
NM_001256071.3(RNF213):c.4591C>T (p.Arg1531Cys)
|
|
|
NM_001256071.3(RNF213):c.467C>T (p.Thr156Met)
|
|
|
NM_001256071.3(RNF213):c.4753G>A (p.Val1585Met)
|
|
|
NM_001256071.3(RNF213):c.4907C>T (p.Thr1636Met)
|
|
|
NM_001256071.3(RNF213):c.5180C>T (p.Thr1727Met)
|
|
|
NM_001256071.3(RNF213):c.5294C>T (p.Pro1765Leu)
|
|
|
NM_001256071.3(RNF213):c.5465C>T (p.Pro1822Leu)
|
|
|
NM_001256071.3(RNF213):c.5513C>T (p.Ser1838Phe)
|
|
|
NM_001256071.3(RNF213):c.5600C>T (p.Pro1867Leu)
|
|
|
NM_001256071.3(RNF213):c.5622_5625dup (p.Leu1876fs)
|
rs1599057892
|
|
NM_001256071.3(RNF213):c.5635C>T (p.Arg1879Cys)
|
|
|
NM_001256071.3(RNF213):c.5717G>A (p.Arg1906His)
|
|
|
NM_001256071.3(RNF213):c.5886C>A (p.Tyr1962Ter)
|
|
|
NM_001256071.3(RNF213):c.613C>T (p.Gln205Ter)
|
|
|
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn)
|
rs768740459
|
|
NM_001256071.3(RNF213):c.6247A>T (p.Asn2083Tyr)
|
|
|
NM_001256071.3(RNF213):c.6265C>T (p.Arg2089Trp)
|
|
|
NM_001256071.3(RNF213):c.631_632delinsGT (p.Ser211Val)
|
|
|
NM_001256071.3(RNF213):c.6407A>G (p.Lys2136Arg)
|
|
|
NM_001256071.3(RNF213):c.716A>T (p.Gln239Leu)
|
|
|
NM_001256071.3(RNF213):c.7245_7250delinsCGTTAG (p.Ile2417Ser)
|
rs2144125296
|
|
NM_001256071.3(RNF213):c.7465_7466del (p.Ala2489fs)
|
|
|
NM_001256071.3(RNF213):c.7492A>C (p.Ile2498Leu)
|
|
|
NM_001256071.3(RNF213):c.7610G>A (p.Arg2537His)
|
|
|
NM_001256071.3(RNF213):c.7856T>C (p.Leu2619Pro)
|
|
|
NM_001256071.3(RNF213):c.7870G>C (p.Gly2624Arg)
|
|
|
NM_001256071.3(RNF213):c.8010C>G (p.Ser2670Arg)
|
|
|
NM_001256071.3(RNF213):c.8111G>A (p.Arg2704Gln)
|
|
|
NM_001256071.3(RNF213):c.8179C>G (p.Arg2727Gly)
|
|
|
NM_001256071.3(RNF213):c.817G>A (p.Asp273Asn)
|
|
|
NM_001256071.3(RNF213):c.8635G>A (p.Val2879Ile)
|
|
|
NM_001256071.3(RNF213):c.8916_8919del (p.Arg2972fs)
|
|
|
NM_001256071.3(RNF213):c.9179T>C (p.Phe3060Ser)
|
|
|
NM_001256071.3(RNF213):c.9204T>G (p.Ile3068Met)
|
|
|
NM_001256071.3(RNF213):c.9343G>A (p.Ala3115Thr)
|
|
|
NM_001256071.3(RNF213):c.9439C>T (p.Arg3147Cys)
|
|
|
NM_001256071.3(RNF213):c.9656T>C (p.Ile3219Thr)
|
|
|
NM_001256071.3(RNF213):c.9917C>T (p.Thr3306Met)
|
|
|
NM_001256071.3(RNF213):c.9934C>G (p.His3312Asp)
|
|
|
NM_001256071.3(RNF213):c.9984C>A (p.His3328Gln)
|
|
|