NM_183381.3(RNF13):c.789C>T (p.His263=)
|
rs6768054
|
0.63113
|
NM_183381.3(RNF13):c.606+14C>T
|
rs73157016
|
0.01701
|
NM_183381.3(RNF13):c.517G>A (p.Val173Ile)
|
rs150196894
|
0.01696
|
NM_183381.3(RNF13):c.701-8G>C
|
rs140341752
|
0.00677
|
NM_183381.3(RNF13):c.492T>C (p.Tyr164=)
|
rs148516101
|
0.00564
|
NM_183381.3(RNF13):c.655C>T (p.Arg219Cys)
|
rs143447610
|
0.00164
|
NM_183381.3(RNF13):c.1018G>A (p.Asp340Asn)
|
rs573073209
|
0.00058
|
NM_183381.3(RNF13):c.1089C>T (p.Val363=)
|
rs371997640
|
0.00034
|
NM_183381.3(RNF13):c.479A>G (p.Asp160Gly)
|
rs144710366
|
0.00028
|
NM_183381.3(RNF13):c.782-17A>G
|
rs200467310
|
0.00025
|
NM_183381.3(RNF13):c.700+7A>G
|
rs193248526
|
0.00024
|
NM_183381.3(RNF13):c.363T>A (p.Val121=)
|
rs138875909
|
0.00021
|
NM_183381.3(RNF13):c.656G>A (p.Arg219His)
|
rs146279690
|
0.00014
|
NM_183381.3(RNF13):c.451G>C (p.Gly151Arg)
|
rs191904836
|
0.00010
|
NM_183381.3(RNF13):c.216A>G (p.Lys72=)
|
rs766434167
|
0.00006
|
NM_183381.3(RNF13):c.701-15A>G
|
rs773728380
|
0.00006
|
NM_183381.3(RNF13):c.980C>T (p.Ser327Leu)
|
rs200489974
|
0.00006
|
NM_183381.3(RNF13):c.987C>G (p.Ser329=)
|
rs768209626
|
0.00006
|
NM_183381.3(RNF13):c.608T>C (p.Ile203Thr)
|
rs140042189
|
0.00005
|
NM_183381.3(RNF13):c.1102C>A (p.Gln368Lys)
|
rs149058915
|
0.00004
|
NM_183381.3(RNF13):c.1117C>T (p.Arg373Trp)
|
rs575462208
|
0.00004
|
NM_183381.3(RNF13):c.1118G>A (p.Arg373Gln)
|
rs374986410
|
0.00004
|
NM_183381.3(RNF13):c.1133C>T (p.Ala378Val)
|
rs753929579
|
0.00004
|
NM_183381.3(RNF13):c.196-15C>T
|
rs1157616435
|
0.00004
|
NM_183381.3(RNF13):c.282C>T (p.Ile94=)
|
rs142620410
|
0.00004
|
NM_183381.3(RNF13):c.43G>A (p.Val15Ile)
|
rs140665765
|
0.00004
|
NM_183381.3(RNF13):c.52A>G (p.Ile18Val)
|
rs760934570
|
0.00004
|
NM_183381.3(RNF13):c.606+8C>T
|
rs375591711
|
0.00004
|
NM_183381.3(RNF13):c.883G>A (p.Asp295Asn)
|
rs201621224
|
0.00004
|
NM_183381.3(RNF13):c.900A>G (p.Gln300=)
|
rs149934250
|
0.00004
|
NM_183381.3(RNF13):c.1037A>G (p.Asn346Ser)
|
rs1321274958
|
0.00002
|
NM_183381.3(RNF13):c.378T>C (p.Ser126=)
|
rs199955067
|
0.00002
|
NM_183381.3(RNF13):c.409+8C>T
|
rs1469161562
|
0.00002
|
NM_183381.3(RNF13):c.57G>T (p.Leu19Phe)
|
rs768978970
|
0.00002
|
NM_183381.3(RNF13):c.1007C>T (p.Thr336Ile)
|
rs766417742
|
0.00001
|
NM_183381.3(RNF13):c.1033G>A (p.Asp345Asn)
|
rs746485111
|
0.00001
|
NM_183381.3(RNF13):c.1045A>G (p.Thr349Ala)
|
rs972002974
|
0.00001
|
NM_183381.3(RNF13):c.1059T>C (p.Asp353=)
|
rs199606748
|
0.00001
|
NM_183381.3(RNF13):c.1090G>A (p.Val364Met)
|
rs865931642
|
0.00001
|
NM_183381.3(RNF13):c.253G>A (p.Val85Ile)
|
rs948687931
|
0.00001
|
NM_183381.3(RNF13):c.292A>G (p.Arg98Gly)
|
rs772549838
|
0.00001
|
NM_183381.3(RNF13):c.298C>T (p.Leu100Phe)
|
rs775761047
|
0.00001
|
NM_183381.3(RNF13):c.368A>G (p.Asn123Ser)
|
rs780598817
|
0.00001
|
NM_183381.3(RNF13):c.377C>A (p.Ser126Tyr)
|
rs1458533397
|
0.00001
|
NM_183381.3(RNF13):c.393C>T (p.Ser131=)
|
rs772769215
|
0.00001
|
NM_183381.3(RNF13):c.406G>A (p.Asp136Asn)
|
rs770685913
|
0.00001
|
NM_183381.3(RNF13):c.548A>G (p.Tyr183Cys)
|
rs1250628602
|
0.00001
|
NM_183381.3(RNF13):c.552A>G (p.Leu184=)
|
rs768700103
|
0.00001
|
NM_183381.3(RNF13):c.644G>A (p.Arg215Lys)
|
rs767662400
|
0.00001
|
NM_183381.3(RNF13):c.690A>C (p.Lys230Asn)
|
rs769789166
|
0.00001
|
NM_183381.3(RNF13):c.693C>T (p.Phe231=)
|
rs541786633
|
0.00001
|
NM_183381.3(RNF13):c.701-17A>G
|
rs369953256
|
0.00001
|
NM_183381.3(RNF13):c.760A>C (p.Arg254=)
|
rs1802142
|
0.00001
|
NM_183381.3(RNF13):c.830C>A (p.Thr277Asn)
|
rs1280443516
|
0.00001
|
NM_183381.3(RNF13):c.981G>A (p.Ser327=)
|
rs759934563
|
0.00001
|
NM_183381.3(RNF13):c.988C>T (p.Arg330Cys)
|
rs377044020
|
0.00001
|
NC_000003.11:g.(?_149563814)_(149619969_?)del
|
|
|
NC_000003.11:g.(?_149677823)_(149678891_?)del
|
|
|
NM_183381.3(RNF13):c.1009G>C (p.Glu337Gln)
|
|
|
NM_183381.3(RNF13):c.1011A>C (p.Glu337Asp)
|
|
|
NM_183381.3(RNF13):c.1019A>C (p.Asp340Ala)
|
rs894452767
|
|
NM_183381.3(RNF13):c.1022A>G (p.Tyr341Cys)
|
|
|
NM_183381.3(RNF13):c.1024G>C (p.Glu342Gln)
|
|
|
NM_183381.3(RNF13):c.1032C>T (p.Asp344=)
|
|
|
NM_183381.3(RNF13):c.1039G>A (p.Glu347Lys)
|
|
|
NM_183381.3(RNF13):c.1045A>C (p.Thr349Pro)
|
|
|
NM_183381.3(RNF13):c.1054A>G (p.Ser352Gly)
|
rs2108622842
|
|
NM_183381.3(RNF13):c.1061C>G (p.Ala354Gly)
|
|
|
NM_183381.3(RNF13):c.1073T>C (p.Ile358Thr)
|
rs769543244
|
|
NM_183381.3(RNF13):c.1077T>G (p.Asn359Lys)
|
rs2108622905
|
|
NM_183381.3(RNF13):c.1086T>C (p.Asp362=)
|
|
|
NM_183381.3(RNF13):c.1086T>G (p.Asp362Glu)
|
|
|
NM_183381.3(RNF13):c.1089_1091del (p.Val365del)
|
rs368558129
|
|
NM_183381.3(RNF13):c.1113T>C (p.Gly371=)
|
|
|
NM_183381.3(RNF13):c.1117C>G (p.Arg373Gly)
|
|
|
NM_183381.3(RNF13):c.1128C>T (p.Asn376=)
|
|
|
NM_183381.3(RNF13):c.1138A>C (p.Thr380Pro)
|
|
|
NM_183381.3(RNF13):c.114+18T>C
|
rs2108375702
|
|
NM_183381.3(RNF13):c.114+5G>T
|
|
|
NM_183381.3(RNF13):c.114+9A>G
|
|
|
NM_183381.3(RNF13):c.15A>G (p.Ile5Met)
|
|
|
NM_183381.3(RNF13):c.16G>A (p.Gly6Arg)
|
rs1722610564
|
|
NM_183381.3(RNF13):c.16G>C (p.Gly6Arg)
|
|
|
NM_183381.3(RNF13):c.199T>G (p.Phe67Val)
|
|
|
NM_183381.3(RNF13):c.205A>G (p.Ile69Val)
|
|
|
NM_183381.3(RNF13):c.215_216del (p.Lys72fs)
|
rs2108442065
|
|
NM_183381.3(RNF13):c.218C>A (p.Pro73Gln)
|
rs2108442079
|
|
NM_183381.3(RNF13):c.233_234insGGC (p.Glu78_Pro79insAla)
|
|
|
NM_183381.3(RNF13):c.238A>G (p.Ile80Val)
|
|
|
NM_183381.3(RNF13):c.25A>G (p.Met9Val)
|
|
|
NM_183381.3(RNF13):c.260A>G (p.Asp87Gly)
|
|
|
NM_183381.3(RNF13):c.267A>G (p.Ser89=)
|
rs2108442188
|
|
NM_183381.3(RNF13):c.273C>T (p.Gly91=)
|
|
|
NM_183381.3(RNF13):c.274A>T (p.Thr92Ser)
|
|
|
NM_183381.3(RNF13):c.283G>C (p.Val95Leu)
|
rs146907927
|
|
NM_183381.3(RNF13):c.283G>T (p.Val95Leu)
|
|
|
NM_183381.3(RNF13):c.296_297delinsAG (p.Arg99Lys)
|
|
|
NM_183381.3(RNF13):c.298C>G (p.Leu100Val)
|
|
|
NM_183381.3(RNF13):c.306T>C (p.Cys102=)
|
rs2108442274
|
|
NM_183381.3(RNF13):c.321+1G>C
|
|
|
NM_183381.3(RNF13):c.321+8T>A
|
|
|
NM_183381.3(RNF13):c.321G>C (p.Lys107Asn)
|
|
|
NM_183381.3(RNF13):c.322-3C>A
|
rs754055420
|
|
NM_183381.3(RNF13):c.322-4G>C
|
|
|
NM_183381.3(RNF13):c.322-6T>G
|
|
|
NM_183381.3(RNF13):c.333A>G (p.Ala111=)
|
|
|
NM_183381.3(RNF13):c.340G>T (p.Ala114Ser)
|
rs779018351
|
|
NM_183381.3(RNF13):c.343G>A (p.Gly115Arg)
|
|
|
NM_183381.3(RNF13):c.34G>A (p.Ala12Thr)
|
rs2108375461
|
|
NM_183381.3(RNF13):c.354A>G (p.Ala118=)
|
|
|
NM_183381.3(RNF13):c.354A>T (p.Ala118=)
|
|
|
NM_183381.3(RNF13):c.373G>A (p.Asp125Asn)
|
rs747349456
|
|
NM_183381.3(RNF13):c.387C>A (p.Leu129=)
|
|
|
NM_183381.3(RNF13):c.395T>C (p.Met132Thr)
|
|
|
NM_183381.3(RNF13):c.39A>T (p.Thr13=)
|
|
|
NM_183381.3(RNF13):c.401C>T (p.Ser134Phe)
|
|
|
NM_183381.3(RNF13):c.405C>T (p.Asn135=)
|
|
|
NM_183381.3(RNF13):c.409+15C>G
|
|
|
NM_183381.3(RNF13):c.409+17C>T
|
|
|
NM_183381.3(RNF13):c.409+23T>C
|
rs2108491465
|
|
NM_183381.3(RNF13):c.410-18C>G
|
|
|
NM_183381.3(RNF13):c.410-4A>G
|
|
|
NM_183381.3(RNF13):c.410-6A>G
|
|
|
NM_183381.3(RNF13):c.410-7T>A
|
rs377225073
|
|
NM_183381.3(RNF13):c.410-7T>C
|
|
|
NM_183381.3(RNF13):c.41A>G (p.Gln14Arg)
|
|
|
NM_183381.3(RNF13):c.427A>G (p.Ile143Val)
|
|
|
NM_183381.3(RNF13):c.434T>C (p.Ile145Thr)
|
|
|
NM_183381.3(RNF13):c.438A>G (p.Pro146=)
|
rs774129363
|
|
NM_183381.3(RNF13):c.44T>A (p.Val15Asp)
|
|
|
NM_183381.3(RNF13):c.453T>C (p.Gly151=)
|
|
|
NM_183381.3(RNF13):c.453T>G (p.Gly151=)
|
|
|
NM_183381.3(RNF13):c.46T>C (p.Tyr16His)
|
|
|
NM_183381.3(RNF13):c.471T>C (p.Ser157=)
|
|
|
NM_183381.3(RNF13):c.487A>G (p.Thr163Ala)
|
|
|
NM_183381.3(RNF13):c.489A>G (p.Thr163=)
|
|
|
NM_183381.3(RNF13):c.489A>T (p.Thr163=)
|
|
|
NM_183381.3(RNF13):c.489del (p.Tyr164fs)
|
|
|
NM_183381.3(RNF13):c.500+7A>C
|
|
|
NM_183381.3(RNF13):c.501-17T>G
|
|
|
NM_183381.3(RNF13):c.503G>T (p.Gly168Val)
|
rs1717039887
|
|
NM_183381.3(RNF13):c.50C>T (p.Thr17Ile)
|
|
|
NM_183381.3(RNF13):c.510T>C (p.Leu170=)
|
|
|
NM_183381.3(RNF13):c.511A>T (p.Ile171Phe)
|
|
|
NM_183381.3(RNF13):c.513_514dup (p.Leu172fs)
|
|
|
NM_183381.3(RNF13):c.516A>G (p.Leu172=)
|
rs2108518514
|
|
NM_183381.3(RNF13):c.520C>G (p.Pro174Ala)
|
|
|
NM_183381.3(RNF13):c.528T>C (p.Phe176=)
|
|
|
NM_183381.3(RNF13):c.541G>C (p.Glu181Gln)
|
|
|
NM_183381.3(RNF13):c.556C>T (p.Pro186Ser)
|
|
|
NM_183381.3(RNF13):c.560T>C (p.Phe187Ser)
|
|
|
NM_183381.3(RNF13):c.572T>A (p.Val191Glu)
|
rs2108518590
|
|
NM_183381.3(RNF13):c.591G>A (p.Leu197=)
|
|
|
NM_183381.3(RNF13):c.5T>A (p.Leu2Gln)
|
|
|
NM_183381.3(RNF13):c.601T>C (p.Phe201Leu)
|
|
|
NM_183381.3(RNF13):c.605T>C (p.Met202Thr)
|
|
|
NM_183381.3(RNF13):c.606+21_606+30del
|
|
|
NM_183381.3(RNF13):c.606+7A>C
|
|
|
NM_183381.3(RNF13):c.606+9A>G
|
|
|
NM_183381.3(RNF13):c.607-13C>G
|
|
|
NM_183381.3(RNF13):c.622C>T (p.Gln208Ter)
|
|
|
NM_183381.3(RNF13):c.641G>A (p.Arg214Lys)
|
|
|
NM_183381.3(RNF13):c.641G>C (p.Arg214Thr)
|
|
|
NM_183381.3(RNF13):c.660A>C (p.Lys220Asn)
|
rs2108536815
|
|
NM_183381.3(RNF13):c.670A>G (p.Lys224Glu)
|
|
|
NM_183381.3(RNF13):c.679C>T (p.Pro227Ser)
|
|
|
NM_183381.3(RNF13):c.680C>G (p.Pro227Arg)
|
|
|
NM_183381.3(RNF13):c.687del (p.His229fs)
|
|
|
NM_183381.3(RNF13):c.694A>G (p.Lys232Glu)
|
|
|
NM_183381.3(RNF13):c.696G>A (p.Lys232=)
|
|
|
NM_183381.3(RNF13):c.696G>C (p.Lys232Asn)
|
rs749117485
|
|
NM_183381.3(RNF13):c.700+17T>C
|
rs532033282
|
|
NM_183381.3(RNF13):c.700+1G>A
|
|
|
NM_183381.3(RNF13):c.700+4_700+7del
|
rs769240853
|
|
NM_183381.3(RNF13):c.700+5G>A
|
|
|
NM_183381.3(RNF13):c.700+6dup
|
|
|
NM_183381.3(RNF13):c.700G>C (p.Gly234Arg)
|
|
|
NM_183381.3(RNF13):c.701-10_701-9del
|
rs745453756
|
|
NM_183381.3(RNF13):c.708G>T (p.Glu236Asp)
|
|
|
NM_183381.3(RNF13):c.709T>A (p.Tyr237Asn)
|
|
|
NM_183381.3(RNF13):c.714T>C (p.Asp238=)
|
|
|
NM_183381.3(RNF13):c.715G>A (p.Val239Ile)
|
|
|
NM_183381.3(RNF13):c.716T>G (p.Val239Gly)
|
|
|
NM_183381.3(RNF13):c.735T>C (p.Asp245=)
|
|
|
NM_183381.3(RNF13):c.738G>A (p.Glu246=)
|
|
|
NM_183381.3(RNF13):c.742G>A (p.Glu248Lys)
|
|
|
NM_183381.3(RNF13):c.747T>C (p.Asp249=)
|
|
|
NM_183381.3(RNF13):c.753C>A (p.Asp251Glu)
|
|
|
NM_183381.3(RNF13):c.757C>T (p.Leu253Phe)
|
|
|
NM_183381.3(RNF13):c.765C>A (p.Ile255=)
|
rs2108620542
|
|
NM_183381.3(RNF13):c.778C>T (p.His260Tyr)
|
|
|
NM_183381.3(RNF13):c.781+14C>T
|
|
|
NM_183381.3(RNF13):c.781+15G>A
|
rs370881979
|
|
NM_183381.3(RNF13):c.781+15G>C
|
|
|
NM_183381.3(RNF13):c.781+19T>C
|
|
|
NM_183381.3(RNF13):c.781+7G>A
|
|
|
NM_183381.3(RNF13):c.782-14T>C
|
|
|
NM_183381.3(RNF13):c.782-21_782-20del
|
|
|
NM_183381.3(RNF13):c.782-8T>C
|
rs2108621940
|
|
NM_183381.3(RNF13):c.782-8T>G
|
rs2108621940
|
|
NM_183381.3(RNF13):c.795G>A (p.Lys265=)
|
|
|
NM_183381.3(RNF13):c.797G>A (p.Cys266Tyr)
|
|
|
NM_183381.3(RNF13):c.802G>A (p.Asp268Asn)
|
|
|
NM_183381.3(RNF13):c.806C>T (p.Pro269Leu)
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NM_183381.3(RNF13):c.807T>C (p.Pro269=)
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NM_183381.3(RNF13):c.821C>T (p.Thr274Ile)
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NM_183381.3(RNF13):c.828A>C (p.Lys276Asn)
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NM_183381.3(RNF13):c.829A>T (p.Thr277Ser)
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rs2108622122
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NM_183381.3(RNF13):c.844A>G (p.Lys282Glu)
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NM_183381.3(RNF13):c.845A>T (p.Lys282Met)
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NM_183381.3(RNF13):c.854_855del (p.Val285fs)
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NM_183381.3(RNF13):c.857T>C (p.Val286Ala)
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rs1722331156
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NM_183381.3(RNF13):c.858T>C (p.Val286=)
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NM_183381.3(RNF13):c.85C>A (p.Leu29Ile)
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rs763378011
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NM_183381.3(RNF13):c.870C>A (p.Gly290=)
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rs1211424606
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NM_183381.3(RNF13):c.870C>T (p.Gly290=)
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NM_183381.3(RNF13):c.875C>G (p.Ser292Ter)
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rs1722332295
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NM_183381.3(RNF13):c.880_885del (p.292SD[1])
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NM_183381.3(RNF13):c.881_882del (p.Asp293_Ser294insTer)
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rs2108622234
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NM_183381.3(RNF13):c.892A>G (p.Ser298Gly)
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NM_183381.3(RNF13):c.89T>A (p.Leu30Gln)
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NM_183381.3(RNF13):c.90G>A (p.Leu30=)
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NM_183381.3(RNF13):c.90G>C (p.Leu30=)
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NM_183381.3(RNF13):c.912A>C (p.Glu304Asp)
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rs2108622368
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NM_183381.3(RNF13):c.916A>G (p.Thr306Ala)
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NM_183381.3(RNF13):c.917C>T (p.Thr306Ile)
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NM_183381.3(RNF13):c.921A>C (p.Glu307Asp)
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NM_183381.3(RNF13):c.927C>A (p.Thr309=)
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NM_183381.3(RNF13):c.932T>A (p.Leu311Ter)
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rs1559980771
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NM_183381.3(RNF13):c.932del (p.Leu311fs)
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rs2108622433
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NM_183381.3(RNF13):c.934C>T (p.Leu312=)
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NM_183381.3(RNF13):c.938G>C (p.Arg313Thr)
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rs2108622456
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NM_183381.3(RNF13):c.953T>G (p.Val318Gly)
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NM_183381.3(RNF13):c.960C>G (p.Ala320=)
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NM_183381.3(RNF13):c.962A>C (p.Gln321Pro)
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NM_183381.3(RNF13):c.964T>A (p.Ser322Thr)
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NM_183381.3(RNF13):c.977T>C (p.Leu326Ser)
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rs1351664704
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NM_183381.3(RNF13):c.978A>G (p.Leu326=)
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NM_183381.3(RNF13):c.990C>G (p.Arg330=)
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NM_183381.3(RNF13):c.993A>C (p.Ser331=)
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rs1722344220
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NM_183381.3(RNF13):c.999G>C (p.Gln333His)
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rs1367475703
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NM_183381.3(RNF13):c.99A>G (p.Glu33=)
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