NM_006158.5(NEFL):c.579G>A (p.Met193Ile)
|
rs367943135
|
0.00011
|
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser)
|
rs372245403
|
0.00010
|
NM_006158.5(NEFL):c.1559C>T (p.Thr520Ile)
|
rs750697495
|
0.00007
|
NM_006158.5(NEFL):c.1340T>C (p.Val447Ala)
|
rs1045761358
|
0.00006
|
NM_006158.5(NEFL):c.1310G>A (p.Arg437His)
|
rs369991241
|
0.00004
|
NM_006158.5(NEFL):c.215A>C (p.Asp72Ala)
|
rs777547427
|
0.00004
|
NM_006158.5(NEFL):c.677T>C (p.Val226Ala)
|
rs1586128391
|
0.00004
|
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)
|
rs199775873
|
0.00003
|
NM_006158.5(NEFL):c.1327T>A (p.Tyr443Asn)
|
rs774761874
|
0.00003
|
NM_006158.5(NEFL):c.1391A>T (p.Glu464Val)
|
rs373274253
|
0.00003
|
NM_006158.5(NEFL):c.1585A>G (p.Lys529Glu)
|
rs773979111
|
0.00003
|
NM_006158.5(NEFL):c.1597G>C (p.Ala533Pro)
|
rs371037868
|
0.00003
|
NM_006158.5(NEFL):c.182C>T (p.Ser61Phe)
|
rs1368855205
|
0.00003
|
NM_006158.5(NEFL):c.755C>T (p.Pro252Leu)
|
rs373569840
|
0.00003
|
NM_006158.5(NEFL):c.1170-19C>T
|
rs762116919
|
0.00002
|
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)
|
rs758305388
|
0.00002
|
NM_006158.5(NEFL):c.1528G>A (p.Glu510Lys)
|
rs749256770
|
0.00002
|
NM_006158.5(NEFL):c.1534G>T (p.Gly512Cys)
|
rs267601870
|
0.00002
|
NM_006158.5(NEFL):c.532T>A (p.Tyr178Asn)
|
rs550216338
|
0.00002
|
NM_006158.5(NEFL):c.716A>G (p.Gln239Arg)
|
rs1170226456
|
0.00002
|
NM_006158.5(NEFL):c.743A>C (p.Asp248Ala)
|
rs927119938
|
0.00002
|
NM_006158.5(NEFL):c.1029C>G (p.Asp343Glu)
|
rs781084022
|
0.00001
|
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp)
|
rs368370291
|
0.00001
|
NM_006158.5(NEFL):c.1044+5G>C
|
rs779620367
|
0.00001
|
NM_006158.5(NEFL):c.1049C>T (p.Thr350Met)
|
rs745370680
|
0.00001
|
NM_006158.5(NEFL):c.1160C>A (p.Ala387Glu)
|
rs767498943
|
0.00001
|
NM_006158.5(NEFL):c.1196G>A (p.Arg399Gln)
|
rs372997416
|
0.00001
|
NM_006158.5(NEFL):c.1213G>A (p.Val405Met)
|
rs558941336
|
0.00001
|
NM_006158.5(NEFL):c.1273G>A (p.Gly425Ser)
|
rs756314395
|
0.00001
|
NM_006158.5(NEFL):c.1302G>A (p.Met434Ile)
|
rs922905627
|
0.00001
|
NM_006158.5(NEFL):c.1309C>T (p.Arg437Cys)
|
rs1231546543
|
0.00001
|
NM_006158.5(NEFL):c.1351C>G (p.Gln451Glu)
|
rs773307364
|
0.00001
|
NM_006158.5(NEFL):c.1357G>A (p.Glu453Lys)
|
rs1249514180
|
0.00001
|
NM_006158.5(NEFL):c.1429G>A (p.Glu477Lys)
|
rs749163947
|
0.00001
|
NM_006158.5(NEFL):c.1462G>A (p.Glu488Lys)
|
rs773570365
|
0.00001
|
NM_006158.5(NEFL):c.1492G>A (p.Ala498Thr)
|
rs151208148
|
0.00001
|
NM_006158.5(NEFL):c.1505C>T (p.Ser502Phe)
|
rs1054913532
|
0.00001
|
NM_006158.5(NEFL):c.1529A>G (p.Glu510Gly)
|
rs777727985
|
0.00001
|
NM_006158.5(NEFL):c.1532G>A (p.Gly511Glu)
|
rs377758736
|
0.00001
|
NM_006158.5(NEFL):c.1588G>T (p.Val530Phe)
|
rs749130357
|
0.00001
|
NM_006158.5(NEFL):c.1595G>A (p.Gly532Asp)
|
rs769793484
|
0.00001
|
NM_006158.5(NEFL):c.1612G>A (p.Ala538Thr)
|
rs779888473
|
0.00001
|
NM_006158.5(NEFL):c.216C>A (p.Asp72Glu)
|
rs1411798677
|
0.00001
|
NM_006158.5(NEFL):c.217C>G (p.Leu73Val)
|
rs755889503
|
0.00001
|
NM_006158.5(NEFL):c.235A>G (p.Ile79Val)
|
rs765260132
|
0.00001
|
NM_006158.5(NEFL):c.270G>C (p.Glu90Asp)
|
rs767370918
|
0.00001
|
NM_006158.5(NEFL):c.418G>A (p.Glu140Lys)
|
rs121913663
|
0.00001
|
NM_006158.5(NEFL):c.487G>A (p.Glu163Lys)
|
rs876661155
|
0.00001
|
NM_006158.5(NEFL):c.490C>G (p.Arg164Gly)
|
rs752771636
|
0.00001
|
NM_006158.5(NEFL):c.530G>T (p.Arg177Leu)
|
rs1450236716
|
0.00001
|
NM_006158.5(NEFL):c.637A>G (p.Ile213Val)
|
rs538481538
|
0.00001
|
NM_006158.5(NEFL):c.648G>C (p.Leu216Phe)
|
rs35575466
|
0.00001
|
NM_006158.5(NEFL):c.690G>C (p.Glu230Asp)
|
rs750224223
|
0.00001
|
NM_006158.5(NEFL):c.721G>A (p.Ala241Thr)
|
rs1415523458
|
0.00001
|
NM_006158.5(NEFL):c.808G>T (p.Ala270Ser)
|
rs749160052
|
0.00001
|
NM_006158.5(NEFL):c.856G>T (p.Val286Leu)
|
rs902640009
|
0.00001
|
NM_006158.5(NEFL):c.874G>T (p.Ala292Ser)
|
rs761264386
|
0.00001
|
NC_000008.10:g.(?_24810303)_(24814049_?)dup
|
|
|
NC_000008.10:g.(?_24810313)_(24811829_?)del
|
|
|
NC_000008.10:g.(?_24810313)_(24814039_?)dup
|
|
|
NC_000008.10:g.(?_24810323)_(24811839_?)del
|
|
|
NM_006158.5(NEFL):c.1009G>C (p.Glu337Gln)
|
|
|
NM_006158.5(NEFL):c.1016A>C (p.Lys339Thr)
|
rs1586127945
|
|
NM_006158.5(NEFL):c.1018C>G (p.Gln340Glu)
|
|
|
NM_006158.5(NEFL):c.1027G>A (p.Asp343Asn)
|
rs973190345
|
|
NM_006158.5(NEFL):c.1032C>G (p.Ile344Met)
|
rs1586127924
|
|
NM_006158.5(NEFL):c.1044G>A (p.Gln348=)
|
rs1234285997
|
|
NM_006158.5(NEFL):c.1047C>G (p.Asp349Glu)
|
|
|
NM_006158.5(NEFL):c.104C>T (p.Thr35Ile)
|
|
|
NM_006158.5(NEFL):c.1054A>C (p.Asn352His)
|
rs748970912
|
|
NM_006158.5(NEFL):c.1065A>T (p.Glu355Asp)
|
|
|
NM_006158.5(NEFL):c.1069G>A (p.Glu357Lys)
|
rs1060503693
|
|
NM_006158.5(NEFL):c.1077G>C (p.Arg359Ser)
|
|
|
NM_006158.5(NEFL):c.1097C>T (p.Ala366Val)
|
|
|
NM_006158.5(NEFL):c.109C>T (p.Arg37Cys)
|
|
|
NM_006158.5(NEFL):c.1100G>A (p.Arg367Gln)
|
rs758969477
|
|
NM_006158.5(NEFL):c.1124T>A (p.Leu375His)
|
|
|
NM_006158.5(NEFL):c.1127T>C (p.Leu376Pro)
|
|
|
NM_006158.5(NEFL):c.1128C>A (p.Leu376=)
|
|
|
NM_006158.5(NEFL):c.1136A>C (p.Lys379Thr)
|
|
|
NM_006158.5(NEFL):c.1145T>C (p.Leu382Ser)
|
rs775218507
|
|
NM_006158.5(NEFL):c.1153G>C (p.Glu385Gln)
|
|
|
NM_006158.5(NEFL):c.1154A>T (p.Glu385Val)
|
rs1563251398
|
|
NM_006158.5(NEFL):c.1156A>G (p.Ile386Val)
|
|
|
NM_006158.5(NEFL):c.1157T>G (p.Ile386Ser)
|
rs2117252327
|
|
NM_006158.5(NEFL):c.1166A>C (p.Tyr389Ser)
|
|
|
NM_006158.5(NEFL):c.1167C>T (p.Tyr389=)
|
rs1586126978
|
|
NM_006158.5(NEFL):c.1170-3C>T
|
rs2117251902
|
|
NM_006158.5(NEFL):c.1171A>G (p.Lys391Glu)
|
rs2117251897
|
|
NM_006158.5(NEFL):c.1180G>A (p.Glu394Lys)
|
rs2117251886
|
|
NM_006158.5(NEFL):c.1190A>G (p.Glu397Gly)
|
rs2117251875
|
|
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro)
|
rs372997416
|
|
NM_006158.5(NEFL):c.1201_1318del (p.Ser401fs)
|
rs2117251668
|
|
NM_006158.5(NEFL):c.1247C>T (p.Ser416Phe)
|
|
|
NM_006158.5(NEFL):c.1248C>T (p.Ser416=)
|
|
|
NM_006158.5(NEFL):c.1262G>A (p.Arg421Gln)
|
|
|
NM_006158.5(NEFL):c.1265C>T (p.Ser422Phe)
|
rs1803002899
|
|
NM_006158.5(NEFL):c.126C>G (p.Ser42Arg)
|
|
|
NM_006158.5(NEFL):c.1284G>A (p.Gln428=)
|
rs931901985
|
|
NM_006158.5(NEFL):c.1292C>G (p.Ser431Cys)
|
rs559215942
|
|
NM_006158.5(NEFL):c.1315T>C (p.Phe439Leu)
|
rs199775873
|
|
NM_006158.5(NEFL):c.1324TAC[1] (p.Tyr443del)
|
rs1554497354
|
|
NM_006158.5(NEFL):c.1325A>G (p.Tyr442Cys)
|
rs1461577846
|
|
NM_006158.5(NEFL):c.1326C>T (p.Tyr442=)
|
|
|
NM_006158.5(NEFL):c.1332del (p.Ser445fs)
|
|
|
NM_006158.5(NEFL):c.1333A>G (p.Ser445Gly)
|
rs1563251190
|
|
NM_006158.5(NEFL):c.1343A>G (p.Gln448Arg)
|
rs2117251585
|
|
NM_006158.5(NEFL):c.1347G>C (p.Glu449Asp)
|
rs1027193109
|
|
NM_006158.5(NEFL):c.134C>T (p.Ala45Val)
|
|
|
NM_006158.5(NEFL):c.1356C>G (p.Ile452Met)
|
rs375151853
|
|
NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr)
|
rs372034119
|
|
NM_006158.5(NEFL):c.1379C>T (p.Ala460Val)
|
rs2117251550
|
|
NM_006158.5(NEFL):c.1386G>A (p.Lys462=)
|
|
|
NM_006158.5(NEFL):c.1412C>A (p.Pro471His)
|
rs756696405
|
|
NM_006158.5(NEFL):c.1412C>G (p.Pro471Arg)
|
|
|
NM_006158.5(NEFL):c.1438_1440delinsAGA (p.Glu480Arg)
|
rs1586126391
|
|
NM_006158.5(NEFL):c.1441_1443del (p.Lys481del)
|
rs756788675
|
|
NM_006158.5(NEFL):c.1457C>A (p.Ala486Asp)
|
rs968491415
|
|
NM_006158.5(NEFL):c.1459G>T (p.Glu487Ter)
|
rs558065942
|
|
NM_006158.5(NEFL):c.1471G>C (p.Ala491Pro)
|
|
|
NM_006158.5(NEFL):c.1471_1472delinsTT (p.Ala491Leu)
|
rs1554497315
|
|
NM_006158.5(NEFL):c.1489+6A>T
|
rs1802996927
|
|
NM_006158.5(NEFL):c.1502_1503del (p.Glu501fs)
|
|
|
NM_006158.5(NEFL):c.1512A>T (p.Glu504Asp)
|
rs2117250817
|
|
NM_006158.5(NEFL):c.1513G>A (p.Ala505Thr)
|
rs1060503694
|
|
NM_006158.5(NEFL):c.1514C>T (p.Ala505Val)
|
|
|
NM_006158.5(NEFL):c.1517AAG[4] (p.Glu510del)
|
rs570816238
|
|
NM_006158.5(NEFL):c.1517AAG[6] (p.Glu510dup)
|
rs570816238
|
|
NM_006158.5(NEFL):c.1525G>A (p.Glu509Lys)
|
|
|
NM_006158.5(NEFL):c.1532_1537dup (p.Gly511_Gly512dup)
|
rs777344234
|
|
NM_006158.5(NEFL):c.1540G>C (p.Gly514Arg)
|
rs1586126037
|
|
NM_006158.5(NEFL):c.1544AAG[1] (p.Glu516del)
|
rs758240691
|
|
NM_006158.5(NEFL):c.1558A>T (p.Thr520Ser)
|
rs2117250713
|
|
NM_006158.5(NEFL):c.1576G>A (p.Glu526Lys)
|
|
|
NM_006158.5(NEFL):c.1597G>T (p.Ala533Ser)
|
|
|
NM_006158.5(NEFL):c.1618A>G (p.Lys540Glu)
|
rs1157404996
|
|
NM_006158.5(NEFL):c.1627G>A (p.Asp543Asn)
|
rs1802987647
|
|
NM_006158.5(NEFL):c.193A>G (p.Met65Val)
|
|
|
NM_006158.5(NEFL):c.194T>C (p.Met65Thr)
|
|
|
NM_006158.5(NEFL):c.194T>G (p.Met65Arg)
|
|
|
NM_006158.5(NEFL):c.200G>A (p.Ser67Asn)
|
|
|
NM_006158.5(NEFL):c.214G>T (p.Asp72Tyr)
|
rs748849867
|
|
NM_006158.5(NEFL):c.220A>T (p.Ser74Cys)
|
rs1803055066
|
|
NM_006158.5(NEFL):c.229G>C (p.Ala77Pro)
|
|
|
NM_006158.5(NEFL):c.22C>G (p.Pro8Ala)
|
rs886043551
|
|
NM_006158.5(NEFL):c.22C>T (p.Pro8Ser)
|
rs886043551
|
|
NM_006158.5(NEFL):c.236T>A (p.Ile79Asn)
|
|
|
NM_006158.5(NEFL):c.243C>A (p.Asn81Lys)
|
rs761847300
|
|
NM_006158.5(NEFL):c.262A>C (p.Thr88Pro)
|
rs2117255599
|
|
NM_006158.5(NEFL):c.263C>A (p.Thr88Lys)
|
|
|
NM_006158.5(NEFL):c.269A>G (p.Glu90Gly)
|
rs1803053844
|
|
NM_006158.5(NEFL):c.26A>G (p.Tyr9Cys)
|
rs1586129246
|
|
NM_006158.5(NEFL):c.275_286del (p.Ala92_Gln95del)
|
|
|
NM_006158.5(NEFL):c.281T>A (p.Leu94His)
|
|
|
NM_006158.5(NEFL):c.287A>T (p.Asp96Val)
|
|
|
NM_006158.5(NEFL):c.289C>A (p.Leu97Ile)
|
rs587777888
|
|
NM_006158.5(NEFL):c.289C>T (p.Leu97Phe)
|
rs587777888
|
|
NM_006158.5(NEFL):c.290T>C (p.Leu97Pro)
|
rs1803053378
|
|
NM_006158.5(NEFL):c.290T>G (p.Leu97Arg)
|
rs1803053378
|
|
NM_006158.5(NEFL):c.292A>G (p.Asn98Asp)
|
|
|
NM_006158.5(NEFL):c.294T>G (p.Asn98Lys)
|
rs1057517776
|
|
NM_006158.5(NEFL):c.299G>C (p.Arg100Pro)
|
|
|
NM_006158.5(NEFL):c.29A>C (p.Tyr10Ser)
|
|
|
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser)
|
rs1323026981
|
|
NM_006158.5(NEFL):c.316G>A (p.Glu106Lys)
|
|
|
NM_006158.5(NEFL):c.331C>G (p.Leu111Val)
|
|
|
NM_006158.5(NEFL):c.334G>A (p.Glu112Lys)
|
rs2117255452
|
|
NM_006158.5(NEFL):c.365T>G (p.Leu122Arg)
|
|
|
NM_006158.5(NEFL):c.377G>A (p.Arg126His)
|
rs1364995930
|
|
NM_006158.5(NEFL):c.398C>T (p.Ser133Phe)
|
|
|
NM_006158.5(NEFL):c.415T>A (p.Tyr139Asn)
|
rs868126991
|
|
NM_006158.5(NEFL):c.422A>C (p.Gln141Pro)
|
|
|
NM_006158.5(NEFL):c.443T>A (p.Leu148Gln)
|
rs1338365987
|
|
NM_006158.5(NEFL):c.446C>T (p.Ala149Val)
|
rs59101996
|
|
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr)
|
rs776351925
|
|
NM_006158.5(NEFL):c.44A>G (p.Lys15Arg)
|
rs776351925
|
|
NM_006158.5(NEFL):c.46C>T (p.Arg16Trp)
|
|
|
NM_006158.5(NEFL):c.475_996del (p.Ala159_Gln332del)
|
|
|
NM_006158.5(NEFL):c.484G>A (p.Gly162Ser)
|
rs1437779457
|
|
NM_006158.5(NEFL):c.486C>T (p.Gly162=)
|
rs1803048212
|
|
NM_006158.5(NEFL):c.491G>A (p.Arg164His)
|
|
|
NM_006158.5(NEFL):c.493G>A (p.Glu165Lys)
|
rs1323700017
|
|
NM_006158.5(NEFL):c.494A>C (p.Glu165Ala)
|
|
|
NM_006158.5(NEFL):c.503A>G (p.Glu168Gly)
|
|
|
NM_006158.5(NEFL):c.507G>C (p.Glu169Asp)
|
|
|
NM_006158.5(NEFL):c.509C>A (p.Thr170Asn)
|
rs541360328
|
|
NM_006158.5(NEFL):c.509C>T (p.Thr170Ile)
|
rs541360328
|
|
NM_006158.5(NEFL):c.514C>T (p.Arg172Cys)
|
|
|
NM_006158.5(NEFL):c.531C>T (p.Arg177=)
|
|
|
NM_006158.5(NEFL):c.533A>G (p.Tyr178Cys)
|
|
|
NM_006158.5(NEFL):c.542A>C (p.Glu181Ala)
|
|
|
NM_006158.5(NEFL):c.551G>A (p.Ser184Asn)
|
|
|
NM_006158.5(NEFL):c.556G>C (p.Glu186Gln)
|
|
|
NM_006158.5(NEFL):c.55G>A (p.Val19Met)
|
rs1424618809
|
|
NM_006158.5(NEFL):c.569G>T (p.Gly190Val)
|
rs1803044984
|
|
NM_006158.5(NEFL):c.572G>A (p.Arg191Gln)
|
rs755170407
|
|
NM_006158.5(NEFL):c.581A>G (p.Glu194Gly)
|
|
|
NM_006158.5(NEFL):c.586C>A (p.Arg196Ser)
|
|
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NM_006158.5(NEFL):c.58G>A (p.Glu20Lys)
|
rs779821785
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NM_006158.5(NEFL):c.593G>C (p.Gly198Ala)
|
rs1554497605
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NM_006158.5(NEFL):c.596C>T (p.Ala199Val)
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NM_006158.5(NEFL):c.598G>A (p.Asp200Asn)
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NM_006158.5(NEFL):c.598G>C (p.Asp200His)
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rs1312229375
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NM_006158.5(NEFL):c.603G>T (p.Glu201Asp)
|
rs1217355732
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NM_006158.5(NEFL):c.604G>A (p.Ala202Thr)
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|
NM_006158.5(NEFL):c.608C>T (p.Ala203Val)
|
rs753319598
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NM_006158.5(NEFL):c.614C>T (p.Ala205Val)
|
rs556617527
|
|
NM_006158.5(NEFL):c.616C>G (p.Arg206Gly)
|
rs771763817
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NM_006158.5(NEFL):c.619G>C (p.Ala207Pro)
|
rs868855966
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NM_006158.5(NEFL):c.62_64delinsTTT (p.Thr21_Pro22delinsIleSer)
|
rs2117255966
|
|
NM_006158.5(NEFL):c.648G>A (p.Leu216=)
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|
NM_006158.5(NEFL):c.649A>C (p.Met217Leu)
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NM_006158.5(NEFL):c.64C>G (p.Pro22Ala)
|
rs28928910
|
|
NM_006158.5(NEFL):c.65C>A (p.Pro22His)
|
rs267607538
|
|
NM_006158.5(NEFL):c.65C>T (p.Pro22Leu)
|
rs267607538
|
|
NM_006158.5(NEFL):c.662C>T (p.Ser221Phe)
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|
NM_006158.5(NEFL):c.668T>C (p.Leu223Pro)
|
rs1563251953
|
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NM_006158.5(NEFL):c.67C>G (p.Arg23Gly)
|
rs772092001
|
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NM_006158.5(NEFL):c.67C>T (p.Arg23Trp)
|
rs772092001
|
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NM_006158.5(NEFL):c.682G>A (p.Glu228Lys)
|
|
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NM_006158.5(NEFL):c.682G>C (p.Glu228Gln)
|
rs895511770
|
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NM_006158.5(NEFL):c.688G>A (p.Glu230Lys)
|
rs758201328
|
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NM_006158.5(NEFL):c.68G>C (p.Arg23Pro)
|
rs745353207
|
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NM_006158.5(NEFL):c.705G>A (p.Gln235=)
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|
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NM_006158.5(NEFL):c.709C>G (p.Gln237Glu)
|
|
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NM_006158.5(NEFL):c.712A>T (p.Ile238Phe)
|
rs534615840
|
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NM_006158.5(NEFL):c.748A>C (p.Thr250Pro)
|
|
|
NM_006158.5(NEFL):c.74_88del (p.His25_Val29del)
|
|
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NM_006158.5(NEFL):c.761T>C (p.Leu254Pro)
|
rs1554497578
|
|
NM_006158.5(NEFL):c.763T>C (p.Ser255Pro)
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|
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NM_006158.5(NEFL):c.767C>G (p.Ala256Gly)
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|
|
NM_006158.5(NEFL):c.767C>T (p.Ala256Val)
|
rs775775697
|
|
NM_006158.5(NEFL):c.769G>A (p.Ala257Thr)
|
rs1803039812
|
|
NM_006158.5(NEFL):c.789G>A (p.Ala263=)
|
|
|
NM_006158.5(NEFL):c.797A>G (p.Glu266Gly)
|
rs1367433683
|
|
NM_006158.5(NEFL):c.797A>T (p.Glu266Val)
|
rs1367433683
|
|
NM_006158.5(NEFL):c.79T>C (p.Ser27Pro)
|
rs2117255911
|
|
NM_006158.5(NEFL):c.818T>C (p.Met273Thr)
|
|
|
NM_006158.5(NEFL):c.820C>G (p.Gln274Glu)
|
rs2117254497
|
|
NM_006158.5(NEFL):c.836G>T (p.Trp279Leu)
|
|
|
NM_006158.5(NEFL):c.841A>G (p.Lys281Glu)
|
|
|
NM_006158.5(NEFL):c.845G>A (p.Ser282Asn)
|
rs1803037186
|
|
NM_006158.5(NEFL):c.867G>C (p.Glu289Asp)
|
|
|
NM_006158.5(NEFL):c.868A>G (p.Ser290Gly)
|
rs777110668
|
|
NM_006158.5(NEFL):c.86T>C (p.Val29Ala)
|
rs372748927
|
|
NM_006158.5(NEFL):c.870C>G (p.Ser290Arg)
|
rs2117254420
|
|
NM_006158.5(NEFL):c.873C>A (p.Ala291=)
|
|
|
NM_006158.5(NEFL):c.882C>A (p.Asn294Lys)
|
rs946938553
|
|
NM_006158.5(NEFL):c.882C>G (p.Asn294Lys)
|
rs946938553
|
|
NM_006158.5(NEFL):c.88C>A (p.Arg30Ser)
|
|
|
NM_006158.5(NEFL):c.898GCC[1] (p.Ala301del)
|
rs765310700
|
|
NM_006158.5(NEFL):c.925C>T (p.Arg309Cys)
|
rs1803035476
|
|
NM_006158.5(NEFL):c.932T>C (p.Leu311Pro)
|
|
|
NM_006158.5(NEFL):c.935T>C (p.Leu312Pro)
|
|
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NM_006158.5(NEFL):c.940G>A (p.Ala314Thr)
|
|
|
NM_006158.5(NEFL):c.940_945del (p.Ala314_Lys315del)
|
|
|
NM_006158.5(NEFL):c.94G>C (p.Gly32Arg)
|
|
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NM_006158.5(NEFL):c.958G>A (p.Glu320Lys)
|
|
|
NM_006158.5(NEFL):c.968G>A (p.Arg323Gln)
|
|
|
NM_006158.5(NEFL):c.973A>G (p.Met325Val)
|
rs2117254246
|
|
NM_006158.5(NEFL):c.983C>A (p.Ala328Glu)
|
rs768190580
|
|
NM_006158.5(NEFL):c.985C>G (p.Leu329Val)
|
|
|
NM_006158.5(NEFL):c.990_1013dup (p.Glu330_Glu337dup)
|
rs1586127947
|
|
NM_006158.5(NEFL):c.997C>G (p.Leu333Val)
|
|
|
NM_006158.5(NEFL):c.998T>C (p.Leu333Pro)
|
rs60930717
|
|