NM_018941.4(CLN8):c.513C>G (p.Pro171=)
|
rs376910635
|
0.00073
|
NM_018941.4(CLN8):c.112G>A (p.Val38Ile)
|
rs370199508
|
0.00024
|
NM_018941.4(CLN8):c.619C>G (p.Leu207Val)
|
rs151334741
|
0.00020
|
NM_018941.4(CLN8):c.50A>G (p.Asp17Gly)
|
rs148668081
|
0.00019
|
NM_018941.4(CLN8):c.599T>C (p.Met200Thr)
|
rs368646951
|
0.00011
|
NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe)
|
rs142104002
|
0.00010
|
NM_018941.4(CLN8):c.59C>G (p.Ser20Cys)
|
rs749651452
|
0.00010
|
NM_018941.4(CLN8):c.725C>T (p.Thr242Met)
|
rs138821993
|
0.00010
|
NM_018941.4(CLN8):c.776A>G (p.Asn259Ser)
|
rs201956727
|
0.00010
|
NM_018941.4(CLN8):c.455A>G (p.Asn152Ser)
|
rs138581191
|
0.00009
|
NM_018941.4(CLN8):c.300G>A (p.Gln100=)
|
rs148988002
|
0.00008
|
NM_018941.4(CLN8):c.856C>T (p.Pro286Ser)
|
rs759475160
|
0.00007
|
NM_018941.4(CLN8):c.287C>T (p.Ala96Val)
|
rs775400768
|
0.00006
|
NM_018941.4(CLN8):c.108G>C (p.Leu36Phe)
|
rs746677418
|
0.00004
|
NM_018941.4(CLN8):c.332C>T (p.Thr111Met)
|
rs778188757
|
0.00004
|
NM_018941.4(CLN8):c.385C>T (p.Arg129Trp)
|
rs143694317
|
0.00004
|
NM_018941.4(CLN8):c.386G>A (p.Arg129Gln)
|
rs571617007
|
0.00004
|
NM_018941.4(CLN8):c.545C>T (p.Ala182Val)
|
rs541994118
|
0.00004
|
NM_018941.4(CLN8):c.556G>A (p.Glu186Lys)
|
rs756636772
|
0.00004
|
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser)
|
rs386834136
|
0.00004
|
NM_018941.4(CLN8):c.844C>T (p.Arg282Trp)
|
rs587780898
|
0.00004
|
NM_018941.4(CLN8):c.137C>A (p.Ser46Tyr)
|
rs1418349889
|
0.00003
|
NM_018941.4(CLN8):c.206C>T (p.Thr69Met)
|
rs776409703
|
0.00003
|
NM_018941.4(CLN8):c.266C>G (p.Pro89Arg)
|
rs919541697
|
0.00003
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
NM_018941.4(CLN8):c.503T>C (p.Met168Thr)
|
rs374031055
|
0.00003
|
NM_018941.4(CLN8):c.582G>A (p.Gln194=)
|
rs139824802
|
0.00003
|
NM_018941.4(CLN8):c.585G>C (p.Trp195Cys)
|
rs778435359
|
0.00003
|
NM_018941.4(CLN8):c.697C>G (p.Leu233Val)
|
rs1380901432
|
0.00003
|
NM_018941.4(CLN8):c.94T>C (p.Phe32Leu)
|
rs758068226
|
0.00003
|
NM_018941.4(CLN8):c.161G>A (p.Arg54His)
|
rs372268977
|
0.00002
|
NM_018941.4(CLN8):c.284A>G (p.Lys95Arg)
|
rs1432496931
|
0.00002
|
NM_018941.4(CLN8):c.289C>T (p.Arg97Cys)
|
rs1285178214
|
0.00002
|
NM_018941.4(CLN8):c.411C>G (p.Ile137Met)
|
rs147224140
|
0.00002
|
NM_018941.4(CLN8):c.598A>G (p.Met200Val)
|
rs749595247
|
0.00002
|
NM_018941.4(CLN8):c.823G>C (p.Glu275Gln)
|
rs749774943
|
0.00002
|
NM_018941.4(CLN8):c.837G>T (p.Gln279His)
|
rs774442159
|
0.00002
|
NM_018941.4(CLN8):c.106T>A (p.Leu36Met)
|
rs1554448978
|
0.00001
|
NM_018941.4(CLN8):c.109G>A (p.Gly37Ser)
|
rs770240445
|
0.00001
|
NM_018941.4(CLN8):c.117T>G (p.Phe39Leu)
|
rs201670636
|
0.00001
|
NM_018941.4(CLN8):c.140C>T (p.Ser47Phe)
|
rs765158624
|
0.00001
|
NM_018941.4(CLN8):c.160C>T (p.Arg54Cys)
|
rs769069643
|
0.00001
|
NM_018941.4(CLN8):c.16G>T (p.Asp6Tyr)
|
rs200999640
|
0.00001
|
NM_018941.4(CLN8):c.17A>G (p.Asp6Gly)
|
rs536738656
|
0.00001
|
NM_018941.4(CLN8):c.256C>T (p.Leu86=)
|
rs755248868
|
0.00001
|
NM_018941.4(CLN8):c.305G>T (p.Trp102Leu)
|
rs796052365
|
0.00001
|
NM_018941.4(CLN8):c.323C>T (p.Thr108Met)
|
rs143701028
|
0.00001
|
NM_018941.4(CLN8):c.335G>T (p.Gly112Val)
|
rs1304439072
|
0.00001
|
NM_018941.4(CLN8):c.364C>T (p.His122Tyr)
|
rs746051539
|
0.00001
|
NM_018941.4(CLN8):c.406G>T (p.Val136Phe)
|
rs187297173
|
0.00001
|
NM_018941.4(CLN8):c.41T>C (p.Phe14Ser)
|
rs957551479
|
0.00001
|
NM_018941.4(CLN8):c.488C>T (p.Thr163Met)
|
rs781099399
|
0.00001
|
NM_018941.4(CLN8):c.614T>C (p.Met205Thr)
|
rs763967636
|
0.00001
|
NM_018941.4(CLN8):c.680A>T (p.Tyr227Phe)
|
rs368561820
|
0.00001
|
NM_018941.4(CLN8):c.716C>T (p.Ala239Val)
|
rs913988013
|
0.00001
|
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)
|
rs587779411
|
0.00001
|
NM_018941.4(CLN8):c.832G>A (p.Gly278Arg)
|
rs1358513612
|
0.00001
|
NM_018941.4(CLN8):c.845G>A (p.Arg282Gln)
|
rs766172825
|
0.00001
|
NC_000008.10:g.(?_1719201)_(1728753_?)dup
|
|
|
NC_000008.10:g.(?_1719221)_(1728733_?)dup
|
|
|
NM_018941.4(CLN8):c.-125_-124+19dup
|
rs1064793088
|
|
NM_018941.4(CLN8):c.112G>T (p.Val38Phe)
|
rs370199508
|
|
NM_018941.4(CLN8):c.127C>T (p.His43Tyr)
|
rs541840243
|
|
NM_018941.4(CLN8):c.15C>G (p.Ser5Arg)
|
rs374597781
|
|
NM_018941.4(CLN8):c.160C>A (p.Arg54Ser)
|
|
|
NM_018941.4(CLN8):c.163T>G (p.Ser55Ala)
|
|
|
NM_018941.4(CLN8):c.16G>A (p.Asp6Asn)
|
rs200999640
|
|
NM_018941.4(CLN8):c.16G>C (p.Asp6His)
|
rs200999640
|
|
NM_018941.4(CLN8):c.182A>C (p.Lys61Thr)
|
|
|
NM_018941.4(CLN8):c.187T>C (p.Phe63Leu)
|
|
|
NM_018941.4(CLN8):c.18T>A (p.Asp6Glu)
|
rs1464108080
|
|
NM_018941.4(CLN8):c.18T>G (p.Asp6Glu)
|
|
|
NM_018941.4(CLN8):c.194A>T (p.Asp65Val)
|
|
|
NM_018941.4(CLN8):c.19G>A (p.Gly7Arg)
|
rs764099428
|
|
NM_018941.4(CLN8):c.209G>C (p.Arg70Pro)
|
rs386834124
|
|
NM_018941.4(CLN8):c.20G>C (p.Gly7Ala)
|
|
|
NM_018941.4(CLN8):c.227A>C (p.Gln76Pro)
|
|
|
NM_018941.4(CLN8):c.229A>G (p.Ser77Gly)
|
|
|
NM_018941.4(CLN8):c.234A>G (p.Thr78=)
|
rs1450867136
|
|
NM_018941.4(CLN8):c.236C>T (p.Ala79Val)
|
|
|
NM_018941.4(CLN8):c.238G>A (p.Ala80Thr)
|
rs998922998
|
|
NM_018941.4(CLN8):c.23G>T (p.Gly8Val)
|
rs781017885
|
|
NM_018941.4(CLN8):c.265C>A (p.Pro89Thr)
|
|
|
NM_018941.4(CLN8):c.265C>G (p.Pro89Ala)
|
rs1486320972
|
|
NM_018941.4(CLN8):c.268G>T (p.Val90Leu)
|
|
|
NM_018941.4(CLN8):c.26C>T (p.Thr9Ile)
|
rs1174240541
|
|
NM_018941.4(CLN8):c.274C>G (p.His92Asp)
|
rs34030778
|
|
NM_018941.4(CLN8):c.278C>G (p.Ala93Gly)
|
rs1468620144
|
|
NM_018941.4(CLN8):c.27A>G (p.Thr9=)
|
rs750274455
|
|
NM_018941.4(CLN8):c.280G>A (p.Asp94Asn)
|
rs143918546
|
|
NM_018941.4(CLN8):c.280G>C (p.Asp94His)
|
rs143918546
|
|
NM_018941.4(CLN8):c.290G>T (p.Arg97Leu)
|
rs116605307
|
|
NM_018941.4(CLN8):c.299A>G (p.Gln100Arg)
|
|
|
NM_018941.4(CLN8):c.29C>T (p.Ser10Leu)
|
rs1454175058
|
|
NM_018941.4(CLN8):c.303C>G (p.Asn101Lys)
|
rs755831055
|
|
NM_018941.4(CLN8):c.306G>C (p.Trp102Cys)
|
rs1554449124
|
|
NM_018941.4(CLN8):c.312G>T (p.Trp104Cys)
|
rs1554449136
|
|
NM_018941.4(CLN8):c.322A>G (p.Thr108Ala)
|
|
|
NM_018941.4(CLN8):c.331A>G (p.Thr111Ala)
|
rs1563107925
|
|
NM_018941.4(CLN8):c.344G>C (p.Cys115Ser)
|
|
|
NM_018941.4(CLN8):c.353A>C (p.Asn118Thr)
|
|
|
NM_018941.4(CLN8):c.358G>T (p.Ala120Ser)
|
rs1353274959
|
|
NM_018941.4(CLN8):c.359C>T (p.Ala120Val)
|
|
|
NM_018941.4(CLN8):c.35G>C (p.Ser12Thr)
|
rs1775036577
|
|
NM_018941.4(CLN8):c.361G>A (p.Val121Ile)
|
rs1223417396
|
|
NM_018941.4(CLN8):c.371C>A (p.Ser124Tyr)
|
rs1198837795
|
|
NM_018941.4(CLN8):c.374A>T (p.Asn125Ile)
|
rs142269885
|
|
NM_018941.4(CLN8):c.37A>G (p.Ile13Val)
|
rs1563107126
|
|
NM_018941.4(CLN8):c.380T>G (p.Ile127Ser)
|
|
|
NM_018941.4(CLN8):c.382T>C (p.Phe128Leu)
|
rs1801301214
|
|
NM_018941.4(CLN8):c.385C>G (p.Arg129Gly)
|
|
|
NM_018941.4(CLN8):c.389C>T (p.Thr130Ile)
|
rs1165037847
|
|
NM_018941.4(CLN8):c.392T>G (p.Phe131Cys)
|
rs1404214432
|
|
NM_018941.4(CLN8):c.399G>T (p.Leu133Phe)
|
rs948684101
|
|
NM_018941.4(CLN8):c.39T>G (p.Ile13Met)
|
rs1801279215
|
|
NM_018941.4(CLN8):c.415C>T (p.His139Tyr)
|
rs386834127
|
|
NM_018941.4(CLN8):c.427T>G (p.Phe143Val)
|
rs2130992340
|
|
NM_018941.4(CLN8):c.446G>A (p.Cys149Tyr)
|
|
|
NM_018941.4(CLN8):c.452T>C (p.Val151Ala)
|
rs752026391
|
|
NM_018941.4(CLN8):c.457C>G (p.Leu153Val)
|
|
|
NM_018941.4(CLN8):c.46C>A (p.Leu16Met)
|
rs386834129
|
|
NM_018941.4(CLN8):c.471C>G (p.His157Gln)
|
rs1585138507
|
|
NM_018941.4(CLN8):c.485C>G (p.Thr162Ser)
|
rs1554449289
|
|
NM_018941.4(CLN8):c.499G>A (p.Glu167Lys)
|
rs144495588
|
|
NM_018941.4(CLN8):c.509C>G (p.Thr170Arg)
|
|
|
NM_018941.4(CLN8):c.50A>T (p.Asp17Val)
|
rs148668081
|
|
NM_018941.4(CLN8):c.512C>G (p.Pro171Arg)
|
rs1184115888
|
|
NM_018941.4(CLN8):c.518C>T (p.Thr173Ile)
|
|
|
NM_018941.4(CLN8):c.523G>C (p.Val175Leu)
|
rs768139689
|
|
NM_018941.4(CLN8):c.53A>G (p.Tyr18Cys)
|
rs142104002
|
|
NM_018941.4(CLN8):c.543+5G>C
|
|
|
NM_018941.4(CLN8):c.544-2A>C
|
|
|
NM_018941.4(CLN8):c.544G>A (p.Ala182Thr)
|
|
|
NM_018941.4(CLN8):c.550T>G (p.Trp184Gly)
|
rs1801670539
|
|
NM_018941.4(CLN8):c.560C>G (p.Ser187Cys)
|
rs775174607
|
|
NM_018941.4(CLN8):c.56C>T (p.Ala19Val)
|
rs942360618
|
|
NM_018941.4(CLN8):c.571A>C (p.Lys191Gln)
|
rs1801671671
|
|
NM_018941.4(CLN8):c.573G>C (p.Lys191Asn)
|
|
|
NM_018941.4(CLN8):c.578A>G (p.Asn193Ser)
|
|
|
NM_018941.4(CLN8):c.579C>A (p.Asn193Lys)
|
|
|
NM_018941.4(CLN8):c.582G>C (p.Gln194His)
|
rs139824802
|
|
NM_018941.4(CLN8):c.583T>A (p.Trp195Arg)
|
rs766924857
|
|
NM_018941.4(CLN8):c.586C>G (p.Leu196Val)
|
rs1459482330
|
|
NM_018941.4(CLN8):c.598A>T (p.Met200Leu)
|
rs749595247
|
|
NM_018941.4(CLN8):c.59C>T (p.Ser20Phe)
|
rs749651452
|
|
NM_018941.4(CLN8):c.5A>G (p.Asn2Ser)
|
|
|
NM_018941.4(CLN8):c.606C>G (p.His202Gln)
|
|
|
NM_018941.4(CLN8):c.613A>G (p.Met205Val)
|
|
|
NM_018941.4(CLN8):c.616G>T (p.Val206Phe)
|
rs751249766
|
|
NM_018941.4(CLN8):c.630C>G (p.His210Gln)
|
|
|
NM_018941.4(CLN8):c.631A>T (p.Met211Leu)
|
|
|
NM_018941.4(CLN8):c.632T>C (p.Met211Thr)
|
|
|
NM_018941.4(CLN8):c.636G>C (p.Trp212Cys)
|
|
|
NM_018941.4(CLN8):c.639G>C (p.Trp213Cys)
|
|
|
NM_018941.4(CLN8):c.648C>T (p.Phe216=)
|
rs564074916
|
|
NM_018941.4(CLN8):c.650G>C (p.Trp217Ser)
|
|
|
NM_018941.4(CLN8):c.667G>C (p.Val223Leu)
|
rs1801676517
|
|
NM_018941.4(CLN8):c.682C>G (p.Leu228Val)
|
rs1585151658
|
|
NM_018941.4(CLN8):c.686C>T (p.Pro229Leu)
|
|
|
NM_018941.4(CLN8):c.690T>G (p.His230Gln)
|
|
|
NM_018941.4(CLN8):c.694A>C (p.Thr232Pro)
|
|
|
NM_018941.4(CLN8):c.703C>T (p.Leu235Phe)
|
|
|
NM_018941.4(CLN8):c.706G>A (p.Val236Ile)
|
rs371830719
|
|
NM_018941.4(CLN8):c.706G>C (p.Val236Leu)
|
|
|
NM_018941.4(CLN8):c.70C>T (p.Arg24Cys)
|
rs104894064
|
|
NM_018941.4(CLN8):c.721C>G (p.Leu241Val)
|
rs1554451594
|
|
NM_018941.4(CLN8):c.731T>C (p.Ile244Thr)
|
|
|
NM_018941.4(CLN8):c.732C>G (p.Ile244Met)
|
rs747778614
|
|
NM_018941.4(CLN8):c.743A>G (p.Tyr248Cys)
|
|
|
NM_018941.4(CLN8):c.745T>C (p.Trp249Arg)
|
|
|
NM_018941.4(CLN8):c.763C>G (p.Gln255Glu)
|
rs746397087
|
|
NM_018941.4(CLN8):c.76A>T (p.Thr26Ser)
|
|
|
NM_018941.4(CLN8):c.775A>G (p.Asn259Asp)
|
rs1044299834
|
|
NM_018941.4(CLN8):c.776A>T (p.Asn259Ile)
|
rs201956727
|
|
NM_018941.4(CLN8):c.77C>G (p.Thr26Arg)
|
rs755846977
|
|
NM_018941.4(CLN8):c.77C>T (p.Thr26Met)
|
rs755846977
|
|
NM_018941.4(CLN8):c.781G>A (p.Val261Met)
|
rs1482950665
|
|
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)
|
|
|
NM_018941.4(CLN8):c.796G>T (p.Ala266Ser)
|
|
|
NM_018941.4(CLN8):c.797C>T (p.Ala266Val)
|
|
|
NM_018941.4(CLN8):c.7C>T (p.Pro3Ser)
|
rs767218890
|
|
NM_018941.4(CLN8):c.801G>C (p.Gln267His)
|
|
|
NM_018941.4(CLN8):c.801dup (p.Pro268fs)
|
|
|
NM_018941.4(CLN8):c.806A>G (p.Glu269Gly)
|
rs139003032
|
|
NM_018941.4(CLN8):c.809C>T (p.Ala270Val)
|
rs2129015316
|
|
NM_018941.4(CLN8):c.820C>T (p.Pro274Ser)
|
|
|
NM_018941.4(CLN8):c.827del (p.Gly276fs)
|
rs1365308812
|
|
NM_018941.4(CLN8):c.830A>G (p.Asn277Ser)
|
|
|
NM_018941.4(CLN8):c.835C>T (p.Gln279Ter)
|
|
|
NM_018941.4(CLN8):c.845G>C (p.Arg282Pro)
|
rs766172825
|
|
NM_018941.4(CLN8):c.851A>C (p.Lys284Thr)
|
rs2129015342
|
|
NM_018941.4(CLN8):c.859dup (p.Ter287LeuextTer?)
|
rs2129015346
|
|
NM_018941.4(CLN8):c.85G>T (p.Val29Phe)
|
|
|
NM_018941.4(CLN8):c.94T>G (p.Phe32Val)
|
rs758068226
|
|
NM_018941.4(CLN8):c.97G>C (p.Val33Leu)
|
rs1801284979
|
|