NM_016616.5(NME8):c.610A>G (p.Ile204Val)
|
rs146777129
|
0.00094
|
NM_016616.5(NME8):c.88A>G (p.Thr30Ala)
|
rs199920317
|
0.00053
|
NM_016616.5(NME8):c.343G>A (p.Asp115Asn)
|
rs143447596
|
0.00032
|
NM_016616.5(NME8):c.1169G>C (p.Arg390Thr)
|
rs202221051
|
0.00029
|
NM_016616.5(NME8):c.1519A>G (p.Lys507Glu)
|
rs148302107
|
0.00021
|
NM_016616.5(NME8):c.1689C>G (p.Asn563Lys)
|
rs138317061
|
0.00017
|
NM_016616.5(NME8):c.743C>A (p.Pro248His)
|
rs199973571
|
0.00014
|
NM_016616.5(NME8):c.569C>G (p.Thr190Arg)
|
rs149877831
|
0.00011
|
NM_016616.5(NME8):c.1657C>T (p.Arg553Ter)
|
rs145721687
|
0.00008
|
NM_016616.5(NME8):c.1341C>A (p.Phe447Leu)
|
rs201867197
|
0.00006
|
NM_016616.5(NME8):c.172G>A (p.Glu58Lys)
|
rs369542497
|
0.00006
|
NM_016616.5(NME8):c.679G>A (p.Val227Ile)
|
rs367666545
|
0.00006
|
NM_016616.5(NME8):c.829T>C (p.Tyr277His)
|
rs138867361
|
0.00006
|
NM_016616.5(NME8):c.1097A>G (p.Glu366Gly)
|
rs762153775
|
0.00005
|
NM_016616.5(NME8):c.1735A>G (p.Asn579Asp)
|
rs775868906
|
0.00005
|
NM_016616.5(NME8):c.1269G>A (p.Met423Ile)
|
rs761626831
|
0.00004
|
NM_016616.5(NME8):c.1643C>T (p.Ser548Phe)
|
rs199621229
|
0.00004
|
NM_016616.5(NME8):c.1648G>T (p.Asp550Tyr)
|
rs772853800
|
0.00004
|
NM_016616.5(NME8):c.1729G>A (p.Val577Ile)
|
rs770045061
|
0.00004
|
NM_016616.5(NME8):c.198C>T (p.Val66=)
|
rs748684004
|
0.00004
|
NM_016616.5(NME8):c.485C>T (p.Pro162Leu)
|
rs200863038
|
0.00004
|
NM_016616.5(NME8):c.23T>A (p.Val8Asp)
|
rs1170478165
|
0.00003
|
NM_016616.5(NME8):c.271-11T>A
|
rs760643364
|
0.00003
|
NM_016616.5(NME8):c.311C>T (p.Pro104Leu)
|
rs567620217
|
0.00003
|
NM_016616.5(NME8):c.742C>A (p.Pro248Thr)
|
rs201277639
|
0.00003
|
NM_016616.5(NME8):c.1277T>A (p.Leu426Ter)
|
rs121918300
|
0.00002
|
NM_016616.5(NME8):c.1459T>A (p.Phe487Ile)
|
rs755043696
|
0.00002
|
NM_016616.5(NME8):c.1666T>A (p.Phe556Ile)
|
rs757432890
|
0.00002
|
NM_016616.5(NME8):c.1684A>G (p.Lys562Glu)
|
rs370146151
|
0.00002
|
NM_016616.5(NME8):c.401C>T (p.Pro134Leu)
|
rs369201077
|
0.00002
|
NM_016616.5(NME8):c.989G>A (p.Arg330Lys)
|
rs758607187
|
0.00002
|
NM_016616.5(NME8):c.1092A>T (p.Glu364Asp)
|
rs1376113644
|
0.00001
|
NM_016616.5(NME8):c.1231G>A (p.Glu411Lys)
|
rs778757785
|
0.00001
|
NM_016616.5(NME8):c.1588G>C (p.Ala530Pro)
|
rs536891365
|
0.00001
|
NM_016616.5(NME8):c.270+5G>A
|
rs1263698487
|
0.00001
|
NM_016616.5(NME8):c.365C>G (p.Ala122Gly)
|
rs968749440
|
0.00001
|
NM_016616.5(NME8):c.53G>A (p.Ser18Asn)
|
rs934943362
|
0.00001
|
NM_016616.5(NME8):c.608G>A (p.Arg203Gln)
|
rs534679328
|
0.00001
|
NM_016616.5(NME8):c.668A>G (p.Tyr223Cys)
|
rs200582084
|
0.00001
|
NM_016616.5(NME8):c.706C>T (p.Pro236Ser)
|
rs747458162
|
0.00001
|
NM_016616.5(NME8):c.772G>T (p.Val258Phe)
|
rs553733754
|
0.00001
|
NM_016616.5(NME8):c.819-3C>G
|
rs1313065577
|
0.00001
|
NM_016616.5(NME8):c.82G>T (p.Gly28Cys)
|
rs780172047
|
0.00001
|
NM_016616.5(NME8):c.921T>A (p.Phe307Leu)
|
rs746954043
|
0.00001
|
NM_016616.5(NME8):c.994+6G>C
|
rs1060502528
|
0.00001
|
NM_016616.5(NME8):c.995A>G (p.Asp332Gly)
|
rs764183917
|
0.00001
|
NC_000007.13:g.(?_37889849)_(37936714_?)del
|
|
|
NC_000007.13:g.(?_37934048)_(37936694_?)dup
|
|
|
NM_016616.4(NME8):c.1400-?_*15+?dup
|
|
|
NM_016616.5(NME8):c.1006C>T (p.Arg336Cys)
|
|
|
NM_016616.5(NME8):c.1007G>C (p.Arg336Pro)
|
rs62001869
|
|
NM_016616.5(NME8):c.1017del (p.Asp340fs)
|
|
|
NM_016616.5(NME8):c.1061C>T (p.Ser354Leu)
|
|
|
NM_016616.5(NME8):c.1095T>A (p.Tyr365Ter)
|
|
|
NM_016616.5(NME8):c.1124T>C (p.Ile375Thr)
|
|
|
NM_016616.5(NME8):c.1139+3A>G
|
|
|
NM_016616.5(NME8):c.1139G>T (p.Ser380Ile)
|
|
|
NM_016616.5(NME8):c.1141G>A (p.Gly381Ser)
|
|
|
NM_016616.5(NME8):c.1142G>A (p.Gly381Asp)
|
|
|
NM_016616.5(NME8):c.115T>C (p.Cys39Arg)
|
|
|
NM_016616.5(NME8):c.1167G>C (p.Leu389Phe)
|
|
|
NM_016616.5(NME8):c.1175A>G (p.Asn392Ser)
|
|
|
NM_016616.5(NME8):c.1208C>G (p.Pro403Arg)
|
|
|
NM_016616.5(NME8):c.1216G>T (p.Val406Phe)
|
|
|
NM_016616.5(NME8):c.1226C>T (p.Ala409Val)
|
|
|
NM_016616.5(NME8):c.1255G>A (p.Ala419Thr)
|
|
|
NM_016616.5(NME8):c.125G>T (p.Cys42Phe)
|
|
|
NM_016616.5(NME8):c.1265C>G (p.Ala422Gly)
|
|
|
NM_016616.5(NME8):c.1265C>T (p.Ala422Val)
|
|
|
NM_016616.5(NME8):c.1280C>T (p.Pro427Leu)
|
|
|
NM_016616.5(NME8):c.1289A>G (p.Gln430Arg)
|
|
|
NM_016616.5(NME8):c.1294T>C (p.Tyr432His)
|
|
|
NM_016616.5(NME8):c.1295A>G (p.Tyr432Cys)
|
rs1785074705
|
|
NM_016616.5(NME8):c.1299C>T (p.Gly433=)
|
rs1785074828
|
|
NM_016616.5(NME8):c.1303G>A (p.Asp435Asn)
|
|
|
NM_016616.5(NME8):c.1319C>A (p.Ala440Asp)
|
|
|
NM_016616.5(NME8):c.1327G>C (p.Glu443Gln)
|
|
|
NM_016616.5(NME8):c.133A>G (p.Met45Val)
|
|
|
NM_016616.5(NME8):c.134T>C (p.Met45Thr)
|
|
|
NM_016616.5(NME8):c.1352A>C (p.Gln451Pro)
|
|
|
NM_016616.5(NME8):c.1354A>G (p.Ser452Gly)
|
|
|
NM_016616.5(NME8):c.1359_1362dup (p.Gly455fs)
|
|
|
NM_016616.5(NME8):c.1395_1396del (p.Glu467fs)
|
rs758258274
|
|
NM_016616.5(NME8):c.1399G>C (p.Glu467Gln)
|
|
|
NM_016616.5(NME8):c.1400-9T>G
|
|
|
NM_016616.5(NME8):c.1405A>G (p.Ile469Val)
|
|
|
NM_016616.5(NME8):c.1417G>A (p.Val473Ile)
|
|
|
NM_016616.5(NME8):c.1447G>T (p.Val483Leu)
|
|
|
NM_016616.5(NME8):c.144A>T (p.Leu48Phe)
|
|
|
NM_016616.5(NME8):c.1499T>C (p.Val500Ala)
|
|
|
NM_016616.5(NME8):c.1510G>A (p.Asp504Asn)
|
|
|
NM_016616.5(NME8):c.151A>T (p.Lys51Ter)
|
rs2131937755
|
|
NM_016616.5(NME8):c.1536G>T (p.Met512Ile)
|
|
|
NM_016616.5(NME8):c.1539A>T (p.Leu513Phe)
|
|
|
NM_016616.5(NME8):c.1543G>A (p.Val515Met)
|
|
|
NM_016616.5(NME8):c.1545G>A (p.Val515=)
|
rs1785236272
|
|
NM_016616.5(NME8):c.1549C>G (p.Pro517Ala)
|
|
|
NM_016616.5(NME8):c.1555A>G (p.Met519Val)
|
|
|
NM_016616.5(NME8):c.1556T>C (p.Met519Thr)
|
|
|
NM_016616.5(NME8):c.1563G>A (p.Met521Ile)
|
rs957883475
|
|
NM_016616.5(NME8):c.1579A>G (p.Asn527Asp)
|
rs1390857036
|
|
NM_016616.5(NME8):c.1589C>T (p.Ala530Val)
|
|
|
NM_016616.5(NME8):c.1600C>G (p.Arg534Gly)
|
rs142525551
|
|
NM_016616.5(NME8):c.1601G>A (p.Arg534Gln)
|
rs186068152
|
|
NM_016616.5(NME8):c.161_162insCTGAAAAAAT (p.Asn54_Glu55insTer)
|
|
|
NM_016616.5(NME8):c.1621C>A (p.Pro541Thr)
|
|
|
NM_016616.5(NME8):c.1621C>T (p.Pro541Ser)
|
|
|
NM_016616.5(NME8):c.1622C>A (p.Pro541Gln)
|
|
|
NM_016616.5(NME8):c.1624G>C (p.Glu542Gln)
|
rs1785238206
|
|
NM_016616.5(NME8):c.1636T>G (p.Leu546Val)
|
|
|
NM_016616.5(NME8):c.1645C>T (p.Pro549Ser)
|
|
|
NM_016616.5(NME8):c.1658G>A (p.Arg553Gln)
|
|
|
NM_016616.5(NME8):c.165A>T (p.Glu55Asp)
|
rs2131937781
|
|
NM_016616.5(NME8):c.169A>G (p.Asn57Asp)
|
|
|
NM_016616.5(NME8):c.1702G>C (p.Ala568Pro)
|
|
|
NM_016616.5(NME8):c.171C>G (p.Asn57Lys)
|
rs180763598
|
|
NM_016616.5(NME8):c.1720G>A (p.Ala574Thr)
|
|
|
NM_016616.5(NME8):c.1727A>C (p.Glu576Ala)
|
|
|
NM_016616.5(NME8):c.177_178delinsTA (p.Glu60Lys)
|
rs1784427170
|
|
NM_016616.5(NME8):c.17G>A (p.Arg6Gln)
|
|
|
NM_016616.5(NME8):c.206C>G (p.Ala69Gly)
|
|
|
NM_016616.5(NME8):c.229C>A (p.Pro77Thr)
|
|
|
NM_016616.5(NME8):c.244T>A (p.Cys82Ser)
|
rs771622383
|
|
NM_016616.5(NME8):c.250C>G (p.Pro84Ala)
|
|
|
NM_016616.5(NME8):c.253G>A (p.Val85Ile)
|
|
|
NM_016616.5(NME8):c.259_264del (p.Leu87_Phe88del)
|
|
|
NM_016616.5(NME8):c.286G>A (p.Glu96Lys)
|
|
|
NM_016616.5(NME8):c.299G>C (p.Gly100Ala)
|
|
|
NM_016616.5(NME8):c.301G>A (p.Ala101Thr)
|
|
|
NM_016616.5(NME8):c.319A>G (p.Asn107Asp)
|
|
|
NM_016616.5(NME8):c.327A>T (p.Lys109Asn)
|
|
|
NM_016616.5(NME8):c.333T>G (p.Ile111Met)
|
|
|
NM_016616.5(NME8):c.344A>G (p.Asp115Gly)
|
|
|
NM_016616.5(NME8):c.367G>T (p.Gly123Cys)
|
rs770842803
|
|
NM_016616.5(NME8):c.374T>C (p.Met125Thr)
|
|
|
NM_016616.5(NME8):c.382C>T (p.Pro128Ser)
|
rs2131947171
|
|
NM_016616.5(NME8):c.410A>T (p.Asp137Val)
|
|
|
NM_016616.5(NME8):c.438dup (p.Pro147fs)
|
rs778583824
|
|
NM_016616.5(NME8):c.454+1G>A
|
|
|
NM_016616.5(NME8):c.455-2A>G
|
|
|
NM_016616.5(NME8):c.457G>T (p.Glu153Ter)
|
|
|
NM_016616.5(NME8):c.461T>A (p.Leu154Ter)
|
rs1784642730
|
|
NM_016616.5(NME8):c.468T>A (p.Ser156Arg)
|
rs760066403
|
|
NM_016616.5(NME8):c.469A>G (p.Ile157Val)
|
|
|
NM_016616.5(NME8):c.479T>C (p.Ile160Thr)
|
|
|
NM_016616.5(NME8):c.525_528+1del
|
rs1562831419
|
|
NM_016616.5(NME8):c.528+4A>G
|
|
|
NM_016616.5(NME8):c.529-2A>G
|
|
|
NM_016616.5(NME8):c.529A>T (p.Ile177Phe)
|
rs372584831
|
|
NM_016616.5(NME8):c.565A>G (p.Lys189Glu)
|
|
|
NM_016616.5(NME8):c.567G>T (p.Lys189Asn)
|
|
|
NM_016616.5(NME8):c.587A>C (p.Gln196Pro)
|
|
|
NM_016616.5(NME8):c.596A>G (p.Asn199Ser)
|
|
|
NM_016616.5(NME8):c.607C>T (p.Arg203Ter)
|
|
|
NM_016616.5(NME8):c.60G>C (p.Trp20Cys)
|
|
|
NM_016616.5(NME8):c.617A>C (p.Asp206Ala)
|
|
|
NM_016616.5(NME8):c.622_623inv (p.Cys208His)
|
|
|
NM_016616.5(NME8):c.623G>A (p.Cys208Tyr)
|
|
|
NM_016616.5(NME8):c.631G>A (p.Glu211Lys)
|
|
|
NM_016616.5(NME8):c.650T>C (p.Met217Thr)
|
|
|
NM_016616.5(NME8):c.652A>T (p.Thr218Ser)
|
|
|
NM_016616.5(NME8):c.692G>A (p.Ser231Asn)
|
|
|
NM_016616.5(NME8):c.695A>G (p.Lys232Arg)
|
|
|
NM_016616.5(NME8):c.725C>T (p.Pro242Leu)
|
|
|
NM_016616.5(NME8):c.733G>C (p.Asp245His)
|
|
|
NM_016616.5(NME8):c.748G>A (p.Glu250Lys)
|
|
|
NM_016616.5(NME8):c.749A>G (p.Glu250Gly)
|
rs1554363589
|
|
NM_016616.5(NME8):c.751C>T (p.Arg251Ter)
|
|
|
NM_016616.5(NME8):c.763C>A (p.Gln255Lys)
|
|
|
NM_016616.5(NME8):c.767C>A (p.Pro256His)
|
|
|
NM_016616.5(NME8):c.77A>G (p.Asn26Ser)
|
rs1554360744
|
|
NM_016616.5(NME8):c.793G>T (p.Gly265Ter)
|
|
|
NM_016616.5(NME8):c.818+4T>A
|
|
|
NM_016616.5(NME8):c.82G>A (p.Gly28Ser)
|
|
|
NM_016616.5(NME8):c.83G>A (p.Gly28Asp)
|
|
|
NM_016616.5(NME8):c.845A>G (p.His282Arg)
|
rs2131960176
|
|
NM_016616.5(NME8):c.856C>G (p.Leu286Val)
|
|
|
NM_016616.5(NME8):c.85T>A (p.Leu29Ile)
|
|
|
NM_016616.5(NME8):c.884A>G (p.Asn295Ser)
|
|
|
NM_016616.5(NME8):c.913C>T (p.Pro305Ser)
|
|
|
NM_016616.5(NME8):c.916G>A (p.Asp306Asn)
|
|
|
NM_016616.5(NME8):c.938T>A (p.Met313Lys)
|
|
|
NM_016616.5(NME8):c.953C>G (p.Thr318Arg)
|
rs113903273
|
|
NM_016616.5(NME8):c.965T>C (p.Leu322Pro)
|
rs1583637336
|
|
NM_016616.5(NME8):c.97G>C (p.Asp33His)
|
|
|
NM_016616.5(NME8):c.97G>T (p.Asp33Tyr)
|
|
|