NM_018941.4(CLN8):c.544-227A>G
|
rs3935479
|
0.07779
|
NM_018941.4(CLN8):c.544-124T>C
|
rs12546965
|
0.07202
|
NM_018941.4(CLN8):c.274C>T (p.His92Tyr)
|
rs34030778
|
0.01138
|
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)
|
rs150047904
|
0.00893
|
NM_018941.4(CLN8):c.-123-4T>C
|
rs114189810
|
0.00505
|
NM_018941.4(CLN8):c.777T>C (p.Asn259=)
|
rs34814682
|
0.00334
|
NM_018941.4(CLN8):c.290G>A (p.Arg97His)
|
rs116605307
|
0.00236
|
NM_018941.4(CLN8):c.11C>T (p.Ala4Val)
|
rs147181589
|
0.00175
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_018941.4(CLN8):c.513C>G (p.Pro171=)
|
rs376910635
|
0.00073
|
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)
|
rs146579299
|
0.00068
|
NM_018941.4(CLN8):c.546G>A (p.Ala182=)
|
rs144047076
|
0.00064
|
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.318C>T (p.His106=)
|
rs184988046
|
0.00018
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_018941.4(CLN8):c.207G>A (p.Thr69=)
|
rs368365607
|
0.00014
|
NM_018941.4(CLN8):c.200C>T (p.Ala67Val)
|
rs373957283
|
0.00013
|
NM_018941.4(CLN8):c.333G>A (p.Thr111=)
|
rs377273687
|
0.00012
|
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.15C>T (p.Ser5=)
|
rs374597781
|
0.00008
|
NM_018941.4(CLN8):c.300G>A (p.Gln100=)
|
rs148988002
|
0.00008
|
NM_018941.4(CLN8):c.522C>T (p.Cys174=)
|
rs148417620
|
0.00008
|
NM_018941.4(CLN8):c.796G>A (p.Ala266Thr)
|
rs766292710
|
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.510G>A (p.Thr170=)
|
rs759153401
|
0.00006
|
NM_018941.4(CLN8):c.708C>T (p.Val236=)
|
rs200760828
|
0.00006
|
NM_018941.4(CLN8):c.246G>A (p.Leu82=)
|
rs144015378
|
0.00005
|
NM_018941.4(CLN8):c.666G>A (p.Leu222=)
|
rs532934034
|
0.00005
|
NM_018941.4(CLN8):c.108G>C (p.Leu36Phe)
|
rs746677418
|
0.00004
|
NM_018941.4(CLN8):c.279C>T (p.Ala93=)
|
rs372313992
|
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.499G>T (p.Glu167Ter)
|
rs144495588
|
0.00004
|
NM_018941.4(CLN8):c.523G>A (p.Val175Ile)
|
rs768139689
|
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.270G>A (p.Val90=)
|
rs561448346
|
0.00003
|
NM_018941.4(CLN8):c.288G>A (p.Ala96=)
|
rs533351136
|
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.543+17G>T
|
rs370471193
|
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.66G>C (p.Gly22=)
|
rs763583156
|
0.00003
|
NM_018941.4(CLN8):c.697C>G (p.Leu233Val)
|
rs1380901432
|
0.00003
|
NM_018941.4(CLN8):c.726G>A (p.Thr242=)
|
rs200529220
|
0.00003
|
NM_018941.4(CLN8):c.94T>C (p.Phe32Leu)
|
rs758068226
|
0.00003
|
NM_018941.4(CLN8):c.111C>T (p.Gly37=)
|
rs753430388
|
0.00002
|
NM_018941.4(CLN8):c.147G>A (p.Leu49=)
|
rs555757531
|
0.00002
|
NM_018941.4(CLN8):c.161G>A (p.Arg54His)
|
rs372268977
|
0.00002
|
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys)
|
rs765097897
|
0.00002
|
NM_018941.4(CLN8):c.222T>C (p.Gly74=)
|
rs966203442
|
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.543+1G>T
|
rs756267448
|
0.00002
|
NM_018941.4(CLN8):c.558G>A (p.Glu186=)
|
rs769282149
|
0.00002
|
NM_018941.4(CLN8):c.598A>G (p.Met200Val)
|
rs749595247
|
0.00002
|
NM_018941.4(CLN8):c.660C>T (p.Asp220=)
|
rs768136048
|
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.840G>C (p.Leu280=)
|
rs762035651
|
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.126C>T (p.Cys42=)
|
rs192196274
|
0.00001
|
NM_018941.4(CLN8):c.140C>T (p.Ser47Phe)
|
rs765158624
|
0.00001
|
NM_018941.4(CLN8):c.151G>A (p.Ala51Thr)
|
rs777453297
|
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.186C>T (p.Val62=)
|
rs1057522154
|
0.00001
|
NM_018941.4(CLN8):c.18T>C (p.Asp6=)
|
rs1464108080
|
0.00001
|
NM_018941.4(CLN8):c.1A>G (p.Met1Val)
|
rs143730802
|
0.00001
|
NM_018941.4(CLN8):c.209G>A (p.Arg70His)
|
rs386834124
|
0.00001
|
NM_018941.4(CLN8):c.21G>C (p.Gly7=)
|
rs751762914
|
0.00001
|
NM_018941.4(CLN8):c.256C>T (p.Leu86=)
|
rs755248868
|
0.00001
|
NM_018941.4(CLN8):c.27A>C (p.Thr9=)
|
rs750274455
|
0.00001
|
NM_018941.4(CLN8):c.283A>T (p.Lys95Ter)
|
rs759830733
|
0.00001
|
NM_018941.4(CLN8):c.295C>T (p.Gln99Ter)
|
rs750162094
|
0.00001
|
NM_018941.4(CLN8):c.29C>G (p.Ser10Ter)
|
rs1454175058
|
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.324G>A (p.Thr108=)
|
rs148124161
|
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.397T>C (p.Leu133=)
|
rs1419342894
|
0.00001
|
NM_018941.4(CLN8):c.406G>T (p.Val136Phe)
|
rs187297173
|
0.00001
|
NM_018941.4(CLN8):c.408T>A (p.Val136=)
|
rs535963507
|
0.00001
|
NM_018941.4(CLN8):c.416A>G (p.His139Arg)
|
rs1195769874
|
0.00001
|
NM_018941.4(CLN8):c.41T>C (p.Phe14Ser)
|
rs957551479
|
0.00001
|
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)
|
rs386834130
|
0.00001
|
NM_018941.4(CLN8):c.488C>T (p.Thr163Met)
|
rs781099399
|
0.00001
|
NM_018941.4(CLN8):c.509C>T (p.Thr170Met)
|
rs188259026
|
0.00001
|
NM_018941.4(CLN8):c.543+9A>G
|
rs982453047
|
0.00001
|
NM_018941.4(CLN8):c.555C>T (p.Ser185=)
|
rs145929862
|
0.00001
|
NM_018941.4(CLN8):c.562C>T (p.Leu188=)
|
rs587780318
|
0.00001
|
NM_018941.4(CLN8):c.570G>T (p.Trp190Cys)
|
rs772518654
|
0.00001
|
NM_018941.4(CLN8):c.609C>T (p.Cys203=)
|
rs765382699
|
0.00001
|
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)
|
rs104894060
|
0.00001
|
NM_018941.4(CLN8):c.611G>A (p.Arg204His)
|
rs386834134
|
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.709G>A (p.Gly237Arg)
|
rs746645358
|
0.00001
|
NM_018941.4(CLN8):c.716C>T (p.Ala239Val)
|
rs913988013
|
0.00001
|
NM_018941.4(CLN8):c.720G>A (p.Leu240=)
|
rs779630521
|
0.00001
|
NM_018941.4(CLN8):c.741A>G (p.Pro247=)
|
rs1470652667
|
0.00001
|
NM_018941.4(CLN8):c.753T>C (p.His251=)
|
rs1801680845
|
0.00001
|
NM_018941.4(CLN8):c.75C>T (p.Ser25=)
|
rs1276904511
|
0.00001
|
NM_018941.4(CLN8):c.780G>A (p.Pro260=)
|
rs761984333
|
0.00001
|
NM_018941.4(CLN8):c.78G>A (p.Thr26=)
|
rs933753788
|
0.00001
|
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)
|
rs587779411
|
0.00001
|
NM_018941.4(CLN8):c.795C>T (p.Phe265=)
|
rs760610632
|
0.00001
|
NM_018941.4(CLN8):c.804A>C (p.Pro268=)
|
rs746305311
|
0.00001
|
NM_018941.4(CLN8):c.831C>T (p.Asn277=)
|
rs200083273
|
0.00001
|
NM_018941.4(CLN8):c.832G>A (p.Gly278Arg)
|
rs1358513612
|
0.00001
|
NM_018941.4(CLN8):c.843G>A (p.Leu281=)
|
rs367703234
|
0.00001
|
NM_018941.4(CLN8):c.845G>A (p.Arg282Gln)
|
rs766172825
|
0.00001
|
NM_018941.4(CLN8):c.846G>A (p.Arg282=)
|
rs1801686237
|
0.00001
|
NM_018941.4(CLN8):c.849G>A (p.Lys283=)
|
rs753758120
|
0.00001
|
NM_018941.4(CLN8):c.858A>G (p.Pro286=)
|
rs764673534
|
0.00001
|
NM_018941.4(CLN8):c.87C>T (p.Val29=)
|
rs753737213
|
0.00001
|
NM_018941.4(CLN8):c.90T>C (p.Ala30=)
|
rs376382403
|
0.00001
|
NM_018941.4(CLN8):c.9T>C (p.Pro3=)
|
rs773997032
|
0.00001
|
NC_000008.10:g.(?_1719201)_(1728753_?)dup
|
|
|
NC_000008.10:g.(?_1719221)_(1728733_?)dup
|
|
|
NC_000008.11:g.(?_1771035)_(1780587_?)del
|
|
|
NC_000008.11:g.(?_1771045)_(1780577_?)del
|
|
|
NM_018941.3(CLN8):c.[208C>T;792C>G]
|
|
|
NM_018941.3(CLN8):c.[212C>T];[562_563delCT]
|
|
|
NM_018941.4(CLN8):c.-123-1G>C
|
rs1554448791
|
|
NM_018941.4(CLN8):c.-125_-124+19dup
|
rs1064793088
|
|
NM_018941.4(CLN8):c.-131_-124+13del
|
rs1554446821
|
|
NM_018941.4(CLN8):c.102C>T (p.Phe34=)
|
rs2130990585
|
|
NM_018941.4(CLN8):c.105C>G (p.Tyr35Ter)
|
rs2130990601
|
|
NM_018941.4(CLN8):c.109_112dup (p.Val38fs)
|
|
|
NM_018941.4(CLN8):c.111C>A (p.Gly37=)
|
rs753430388
|
|
NM_018941.4(CLN8):c.112G>T (p.Val38Phe)
|
rs370199508
|
|
NM_018941.4(CLN8):c.114C>A (p.Val38=)
|
rs1585137545
|
|
NM_018941.4(CLN8):c.114C>G (p.Val38=)
|
rs1585137545
|
|
NM_018941.4(CLN8):c.123C>G (p.Val41=)
|
|
|
NM_018941.4(CLN8):c.123C>T (p.Val41=)
|
rs1801286645
|
|
NM_018941.4(CLN8):c.126C>A (p.Cys42Ter)
|
rs192196274
|
|
NM_018941.4(CLN8):c.127C>T (p.His43Tyr)
|
rs541840243
|
|
NM_018941.4(CLN8):c.12G>A (p.Ala4=)
|
rs368792081
|
|
NM_018941.4(CLN8):c.12G>C (p.Ala4=)
|
|
|
NM_018941.4(CLN8):c.12G>T (p.Ala4=)
|
rs368792081
|
|
NM_018941.4(CLN8):c.130C>T (p.Gln44Ter)
|
rs2130990747
|
|
NM_018941.4(CLN8):c.135G>A (p.Leu45=)
|
rs766132197
|
|
NM_018941.4(CLN8):c.135G>C (p.Leu45=)
|
|
|
NM_018941.4(CLN8):c.144C>A (p.Ser48=)
|
rs2130990822
|
|
NM_018941.4(CLN8):c.145C>T (p.Leu49=)
|
|
|
NM_018941.4(CLN8):c.153C>G (p.Ala51=)
|
|
|
NM_018941.4(CLN8):c.159C>A (p.Tyr53Ter)
|
|
|
NM_018941.4(CLN8):c.159C>T (p.Tyr53=)
|
rs780551031
|
|
NM_018941.4(CLN8):c.15C>G (p.Ser5Arg)
|
rs374597781
|
|
NM_018941.4(CLN8):c.160C>A (p.Arg54Ser)
|
|
|
NM_018941.4(CLN8):c.160del (p.Arg54fs)
|
|
|
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.174C>T (p.Ala58=)
|
|
|
NM_018941.4(CLN8):c.180G>A (p.Glu60=)
|
rs2130990994
|
|
NM_018941.4(CLN8):c.181_183del (p.Lys61del)
|
rs386834123
|
|
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.1A>T (p.Met1Leu)
|
|
|
NM_018941.4(CLN8):c.201G>A (p.Ala67=)
|
rs575820157
|
|
NM_018941.4(CLN8):c.204C>T (p.Ala68=)
|
|
|
NM_018941.4(CLN8):c.204del (p.Thr69fs)
|
rs1554449028
|
|
NM_018941.4(CLN8):c.209G>C (p.Arg70Pro)
|
rs386834124
|
|
NM_018941.4(CLN8):c.20G>C (p.Gly7Ala)
|
|
|
NM_018941.4(CLN8):c.210T>C (p.Arg70=)
|
rs2130991152
|
|
NM_018941.4(CLN8):c.213A>C (p.Ala71=)
|
|
|
NM_018941.4(CLN8):c.213A>G (p.Ala71=)
|
rs763671368
|
|
NM_018941.4(CLN8):c.216C>G (p.Val72=)
|
|
|
NM_018941.4(CLN8):c.21G>A (p.Gly7=)
|
rs751762914
|
|
NM_018941.4(CLN8):c.226C>T (p.Gln76Ter)
|
rs1554449047
|
|
NM_018941.4(CLN8):c.227A>C (p.Gln76Pro)
|
|
|
NM_018941.4(CLN8):c.227A>G (p.Gln76Arg)
|
rs386834125
|
|
NM_018941.4(CLN8):c.228G>A (p.Gln76=)
|
rs1585137825
|
|
NM_018941.4(CLN8):c.229A>G (p.Ser77Gly)
|
|
|
NM_018941.4(CLN8):c.231C>T (p.Ser77=)
|
rs1408818831
|
|
NM_018941.4(CLN8):c.234A>G (p.Thr78=)
|
rs1450867136
|
|
NM_018941.4(CLN8):c.236C>T (p.Ala79Val)
|
|
|
NM_018941.4(CLN8):c.237C>T (p.Ala79=)
|
rs1362205695
|
|
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.244C>T (p.Leu82=)
|
|
|
NM_018941.4(CLN8):c.246G>C (p.Leu82=)
|
rs144015378
|
|
NM_018941.4(CLN8):c.246G>T (p.Leu82=)
|
|
|
NM_018941.4(CLN8):c.258G>A (p.Leu86=)
|
|
|
NM_018941.4(CLN8):c.261G>A (p.Gly87=)
|
|
|
NM_018941.4(CLN8):c.263del (p.Asp88fs)
|
rs1057516582
|
|
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.273G>A (p.Leu91=)
|
rs878855052
|
|
NM_018941.4(CLN8):c.273G>T (p.Leu91=)
|
rs878855052
|
|
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.291T>C (p.Arg97=)
|
|
|
NM_018941.4(CLN8):c.297G>A (p.Gln99=)
|
rs1057521001
|
|
NM_018941.4(CLN8):c.299A>G (p.Gln100Arg)
|
|
|
NM_018941.4(CLN8):c.29C>T (p.Ser10Leu)
|
rs1454175058
|
|
NM_018941.4(CLN8):c.2T>C (p.Met1Thr)
|
rs1554448874
|
|
NM_018941.4(CLN8):c.303C>G (p.Asn101Lys)
|
rs755831055
|
|
NM_018941.4(CLN8):c.303C>T (p.Asn101=)
|
rs755831055
|
|
NM_018941.4(CLN8):c.306G>A (p.Trp102Ter)
|
rs1554449124
|
|
NM_018941.4(CLN8):c.306G>C (p.Trp102Cys)
|
rs1554449124
|
|
NM_018941.4(CLN8):c.311G>A (p.Trp104Ter)
|
rs1801297484
|
|
NM_018941.4(CLN8):c.312G>A (p.Trp104Ter)
|
rs1554449136
|
|
NM_018941.4(CLN8):c.312G>T (p.Trp104Cys)
|
rs1554449136
|
|
NM_018941.4(CLN8):c.315del (p.His106fs)
|
|
|
NM_018941.4(CLN8):c.320T>G (p.Ile107Ser)
|
rs386834126
|
|
NM_018941.4(CLN8):c.321C>T (p.Ile107=)
|
rs2130991748
|
|
NM_018941.4(CLN8):c.322A>G (p.Thr108Ala)
|
|
|
NM_018941.4(CLN8):c.324G>T (p.Thr108=)
|
|
|
NM_018941.4(CLN8):c.327A>G (p.Thr109=)
|
|
|
NM_018941.4(CLN8):c.330A>G (p.Ala110=)
|
rs2130991797
|
|
NM_018941.4(CLN8):c.331A>G (p.Thr111Ala)
|
rs1563107925
|
|
NM_018941.4(CLN8):c.336A>T (p.Gly112=)
|
rs1585138188
|
|
NM_018941.4(CLN8):c.33G>A (p.Glu11=)
|
rs2130990075
|
|
NM_018941.4(CLN8):c.344G>C (p.Cys115Ser)
|
|
|
NM_018941.4(CLN8):c.345C>T (p.Cys115=)
|
|
|
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.360A>G (p.Ala120=)
|
rs2130991953
|
|
NM_018941.4(CLN8):c.361G>A (p.Val121Ile)
|
rs1223417396
|
|
NM_018941.4(CLN8):c.363C>A (p.Val121=)
|
rs568852954
|
|
NM_018941.4(CLN8):c.366C>T (p.His122=)
|
|
|
NM_018941.4(CLN8):c.367C>T (p.Leu123=)
|
rs2130992011
|
|
NM_018941.4(CLN8):c.369G>A (p.Leu123=)
|
|
|
NM_018941.4(CLN8):c.371C>A (p.Ser124Tyr)
|
rs1198837795
|
|
NM_018941.4(CLN8):c.372C>T (p.Ser124=)
|
rs2130992027
|
|
NM_018941.4(CLN8):c.374A>T (p.Asn125Ile)
|
rs142269885
|
|
NM_018941.4(CLN8):c.375C>T (p.Asn125=)
|
|
|
NM_018941.4(CLN8):c.376T>C (p.Leu126=)
|
|
|
NM_018941.4(CLN8):c.377T>A (p.Leu126Ter)
|
|
|
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.384C>T (p.Phe128=)
|
|
|
NM_018941.4(CLN8):c.385C>G (p.Arg129Gly)
|
|
|
NM_018941.4(CLN8):c.387G>C (p.Arg129=)
|
rs2130992139
|
|
NM_018941.4(CLN8):c.389C>T (p.Thr130Ile)
|
rs1165037847
|
|
NM_018941.4(CLN8):c.390A>C (p.Thr130=)
|
rs181971599
|
|
NM_018941.4(CLN8):c.390A>G (p.Thr130=)
|
rs181971599
|
|
NM_018941.4(CLN8):c.392T>G (p.Phe131Cys)
|
rs1404214432
|
|
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter)
|
rs554042394
|
|
NM_018941.4(CLN8):c.399G>A (p.Leu133=)
|
rs948684101
|
|
NM_018941.4(CLN8):c.399G>T (p.Leu133Phe)
|
rs948684101
|
|
NM_018941.4(CLN8):c.39T>A (p.Ile13=)
|
|
|
NM_018941.4(CLN8):c.39T>G (p.Ile13Met)
|
rs1801279215
|
|
NM_018941.4(CLN8):c.405G>A (p.Leu135=)
|
|
|
NM_018941.4(CLN8):c.408T>C (p.Val136=)
|
rs535963507
|
|
NM_018941.4(CLN8):c.411C>T (p.Ile137=)
|
rs147224140
|
|
NM_018941.4(CLN8):c.415C>T (p.His139Tyr)
|
rs386834127
|
|
NM_018941.4(CLN8):c.420C>G (p.Leu140=)
|
rs2130992308
|
|
NM_018941.4(CLN8):c.424dup (p.Ala142fs)
|
|
|
NM_018941.4(CLN8):c.426C>T (p.Ala142=)
|
rs1354416712
|
|
NM_018941.4(CLN8):c.427T>G (p.Phe143Val)
|
rs2130992340
|
|
NM_018941.4(CLN8):c.429T>C (p.Phe143=)
|
|
|
NM_018941.4(CLN8):c.429_432del (p.Phe143fs)
|
rs759598033
|
|
NM_018941.4(CLN8):c.43del (p.Asp15fs)
|
|
|
NM_018941.4(CLN8):c.446G>A (p.Cys149Tyr)
|
|
|
NM_018941.4(CLN8):c.447C>A (p.Cys149Ter)
|
|
|
NM_018941.4(CLN8):c.452T>C (p.Val151Ala)
|
rs752026391
|
|
NM_018941.4(CLN8):c.453C>G (p.Val151=)
|
rs1801304769
|
|
NM_018941.4(CLN8):c.453C>T (p.Val151=)
|
|
|
NM_018941.4(CLN8):c.457C>G (p.Leu153Val)
|
|
|
NM_018941.4(CLN8):c.459C>A (p.Leu153=)
|
rs1031756072
|
|
NM_018941.4(CLN8):c.459C>G (p.Leu153=)
|
rs1031756072
|
|
NM_018941.4(CLN8):c.459C>T (p.Leu153=)
|
|
|
NM_018941.4(CLN8):c.462A>G (p.Gln154=)
|
rs1366343262
|
|
NM_018941.4(CLN8):c.464C>T (p.Ala155Val)
|
rs386834128
|
|
NM_018941.4(CLN8):c.468C>G (p.Gly156=)
|
rs2130992519
|
|
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.473A>C (p.Tyr158Ser)
|
rs386834130
|
|
NM_018941.4(CLN8):c.474T>C (p.Tyr158=)
|
rs2130992557
|
|
NM_018941.4(CLN8):c.474_477dup (p.Ala160fs)
|
|
|
NM_018941.4(CLN8):c.475C>T (p.Leu159=)
|
rs2130992571
|
|
NM_018941.4(CLN8):c.477A>G (p.Leu159=)
|
|
|
NM_018941.4(CLN8):c.47del (p.Leu16fs)
|
rs1057516867
|
|
NM_018941.4(CLN8):c.485C>G (p.Thr162Ser)
|
rs1554449289
|
|
NM_018941.4(CLN8):c.486C>T (p.Thr162=)
|
rs768531216
|
|
NM_018941.4(CLN8):c.489G>A (p.Thr163=)
|
rs1585138564
|
|
NM_018941.4(CLN8):c.489G>T (p.Thr163=)
|
rs1585138564
|
|
NM_018941.4(CLN8):c.48G>C (p.Leu16=)
|
rs2130990190
|
|
NM_018941.4(CLN8):c.490T>C (p.Leu164=)
|
rs2130992657
|
|
NM_018941.4(CLN8):c.495C>T (p.Leu165=)
|
rs772106347
|
|
NM_018941.4(CLN8):c.496C>T (p.Leu166=)
|
|
|
NM_018941.4(CLN8):c.499G>A (p.Glu167Lys)
|
rs144495588
|
|
NM_018941.4(CLN8):c.507C>T (p.Ser169=)
|
rs386834131
|
|
NM_018941.4(CLN8):c.509C>G (p.Thr170Arg)
|
|
|
NM_018941.4(CLN8):c.50A>T (p.Asp17Val)
|
rs148668081
|
|
NM_018941.4(CLN8):c.50del (p.Asp17fs)
|
rs1554448924
|
|
NM_018941.4(CLN8):c.510G>C (p.Thr170=)
|
|
|
NM_018941.4(CLN8):c.510G>T (p.Thr170=)
|
rs759153401
|
|
NM_018941.4(CLN8):c.512C>G (p.Pro171Arg)
|
rs1184115888
|
|
NM_018941.4(CLN8):c.513C>A (p.Pro171=)
|
|
|
NM_018941.4(CLN8):c.518C>T (p.Thr173Ile)
|
|
|
NM_018941.4(CLN8):c.523G>C (p.Val175Leu)
|
rs768139689
|
|
NM_018941.4(CLN8):c.530G>A (p.Trp177Ter)
|
|
|
NM_018941.4(CLN8):c.537C>T (p.Leu179=)
|
rs2130992882
|
|
NM_018941.4(CLN8):c.539T>A (p.Leu180Ter)
|
rs1801309834
|
|
NM_018941.4(CLN8):c.53A>G (p.Tyr18Cys)
|
rs142104002
|
|
NM_018941.4(CLN8):c.543+12C>G
|
|
|
NM_018941.4(CLN8):c.543+12_543+20dup
|
|
|
NM_018941.4(CLN8):c.543+13A>C
|
|
|
NM_018941.4(CLN8):c.543+14T>G
|
|
|
NM_018941.4(CLN8):c.543+19A>C
|
|
|
NM_018941.4(CLN8):c.543+1G>A
|
rs756267448
|
|
NM_018941.4(CLN8):c.543+5G>C
|
|
|
NM_018941.4(CLN8):c.543+7G>A
|
rs779967066
|
|
NM_018941.4(CLN8):c.543+9A>C
|
rs982453047
|
|
NM_018941.4(CLN8):c.544-15C>T
|
|
|
NM_018941.4(CLN8):c.544-19T>G
|
|
|
NM_018941.4(CLN8):c.544-1G>T
|
|
|
NM_018941.4(CLN8):c.544-2A>C
|
|
|
NM_018941.4(CLN8):c.544-2A>G
|
rs1554451484
|
|
NM_018941.4(CLN8):c.544-5T>C
|
|
|
NM_018941.4(CLN8):c.544-6A>C
|
rs200435861
|
|
NM_018941.4(CLN8):c.544-6A>T
|
|
|
NM_018941.4(CLN8):c.544-8C>A
|
|
|
NM_018941.4(CLN8):c.544G>A (p.Ala182Thr)
|
|
|
NM_018941.4(CLN8):c.546G>T (p.Ala182=)
|
rs144047076
|
|
NM_018941.4(CLN8):c.548del (p.Gly183fs)
|
|
|
NM_018941.4(CLN8):c.550T>G (p.Trp184Gly)
|
rs1801670539
|
|
NM_018941.4(CLN8):c.555C>G (p.Ser185=)
|
|
|
NM_018941.4(CLN8):c.555del (p.Glu186fs)
|
|
|
NM_018941.4(CLN8):c.560C>G (p.Ser187Cys)
|
rs775174607
|
|
NM_018941.4(CLN8):c.561T>A (p.Ser187=)
|
|
|
NM_018941.4(CLN8):c.561T>C (p.Ser187=)
|
|
|
NM_018941.4(CLN8):c.562_563del (p.Leu188fs)
|
rs386834132
|
|
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>A (p.Lys191=)
|
rs1801671744
|
|
NM_018941.4(CLN8):c.573G>C (p.Lys191Asn)
|
|
|
NM_018941.4(CLN8):c.576C>G (p.Leu192=)
|
|
|
NM_018941.4(CLN8):c.576C>T (p.Leu192=)
|
|
|
NM_018941.4(CLN8):c.578A>G (p.Asn193Ser)
|
|
|
NM_018941.4(CLN8):c.579C>A (p.Asn193Lys)
|
|
|
NM_018941.4(CLN8):c.57A>G (p.Ala19=)
|
rs1256814205
|
|
NM_018941.4(CLN8):c.581A>G (p.Gln194Arg)
|
rs386834133
|
|
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.588G>A (p.Leu196=)
|
rs2129015199
|
|
NM_018941.4(CLN8):c.588G>C (p.Leu196=)
|
rs2129015199
|
|
NM_018941.4(CLN8):c.593_596dup (p.Met200fs)
|
rs1801672516
|
|
NM_018941.4(CLN8):c.594del (p.His199fs)
|
rs1554451504
|
|
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.607T>C (p.Cys203Arg)
|
|
|
NM_018941.4(CLN8):c.610C>G (p.Arg204Gly)
|
|
|
NM_018941.4(CLN8):c.611G>T (p.Arg204Leu)
|
rs386834134
|
|
NM_018941.4(CLN8):c.612C>T (p.Arg204=)
|
|
|
NM_018941.4(CLN8):c.613A>G (p.Met205Val)
|
|
|
NM_018941.4(CLN8):c.616G>T (p.Val206Phe)
|
rs751249766
|
|
NM_018941.4(CLN8):c.618T>G (p.Val206=)
|
|
|
NM_018941.4(CLN8):c.624C>A (p.Thr208=)
|
rs1257327513
|
|
NM_018941.4(CLN8):c.627C>G (p.Tyr209Ter)
|
|
|
NM_018941.4(CLN8):c.630C>G (p.His210Gln)
|
|
|
NM_018941.4(CLN8):c.630C>T (p.His210=)
|
rs1554451522
|
|
NM_018941.4(CLN8):c.631A>G (p.Met211Val)
|
rs745785480
|
|
NM_018941.4(CLN8):c.631A>T (p.Met211Leu)
|
|
|
NM_018941.4(CLN8):c.632T>C (p.Met211Thr)
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|
NM_018941.4(CLN8):c.634TGG[1] (p.Trp213del)
|
rs386834135
|
|
NM_018941.4(CLN8):c.635G>A (p.Trp212Ter)
|
rs2129015230
|
|
NM_018941.4(CLN8):c.636G>C (p.Trp212Cys)
|
|
|
NM_018941.4(CLN8):c.637del (p.Trp213fs)
|
rs2129015232
|
|
NM_018941.4(CLN8):c.639G>C (p.Trp213Cys)
|
|
|
NM_018941.4(CLN8):c.639G>T (p.Trp213Cys)
|
rs113304303
|
|
NM_018941.4(CLN8):c.648C>T (p.Phe216=)
|
rs564074916
|
|
NM_018941.4(CLN8):c.650G>C (p.Trp217Ser)
|
|
|
NM_018941.4(CLN8):c.663C>A (p.Gly221=)
|
|
|
NM_018941.4(CLN8):c.667G>C (p.Val223Leu)
|
rs1801676517
|
|
NM_018941.4(CLN8):c.669C>G (p.Val223=)
|
rs2129015252
|
|
NM_018941.4(CLN8):c.66del (p.Ile23fs)
|
rs34238807
|
|
NM_018941.4(CLN8):c.675C>T (p.Ser225=)
|
|
|
NM_018941.4(CLN8):c.678G>A (p.Leu226=)
|
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|
NM_018941.4(CLN8):c.678G>C (p.Leu226=)
|
rs1462963398
|
|
NM_018941.4(CLN8):c.678_687del (p.Tyr227fs)
|
|
|
NM_018941.4(CLN8):c.681T>A (p.Tyr227Ter)
|
rs1554451561
|
|
NM_018941.4(CLN8):c.682C>G (p.Leu228Val)
|
rs1585151658
|
|
NM_018941.4(CLN8):c.682C>T (p.Leu228=)
|
rs1585151658
|
|
NM_018941.4(CLN8):c.684G>C (p.Leu228=)
|
|
|
NM_018941.4(CLN8):c.686C>T (p.Pro229Leu)
|
|
|
NM_018941.4(CLN8):c.68_76del (p.Ile23_Ser25del)
|
|
|
NM_018941.4(CLN8):c.690T>G (p.His230Gln)
|
|
|
NM_018941.4(CLN8):c.693G>A (p.Leu231=)
|
rs1470702469
|
|
NM_018941.4(CLN8):c.694A>C (p.Thr232Pro)
|
|
|
NM_018941.4(CLN8):c.696A>G (p.Thr232=)
|
rs1337045486
|
|
NM_018941.4(CLN8):c.697C>T (p.Leu233=)
|
|
|
NM_018941.4(CLN8):c.699G>C (p.Leu233=)
|
|
|
NM_018941.4(CLN8):c.702C>T (p.Phe234=)
|
rs1264323379
|
|
NM_018941.4(CLN8):c.703C>T (p.Leu235Phe)
|
|
|
NM_018941.4(CLN8):c.703del (p.Val236fs)
|
rs761621368
|
|
NM_018941.4(CLN8):c.705T>G (p.Leu235=)
|
|
|
NM_018941.4(CLN8):c.706G>A (p.Val236Ile)
|
rs371830719
|
|
NM_018941.4(CLN8):c.706G>C (p.Val236Leu)
|
|
|
NM_018941.4(CLN8):c.709G>C (p.Gly237Arg)
|
|
|
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly)
|
rs104894064
|
|
NM_018941.4(CLN8):c.70C>T (p.Arg24Cys)
|
rs104894064
|
|
NM_018941.4(CLN8):c.714G>A (p.Leu238=)
|
|
|
NM_018941.4(CLN8):c.71G>A (p.Arg24His)
|
|
|
NM_018941.4(CLN8):c.71G>T (p.Arg24Leu)
|
|
|
NM_018941.4(CLN8):c.721C>G (p.Leu241Val)
|
rs1554451594
|
|
NM_018941.4(CLN8):c.725del (p.Thr242fs)
|
rs2129015276
|
|
NM_018941.4(CLN8):c.726G>C (p.Thr242=)
|
rs200529220
|
|
NM_018941.4(CLN8):c.72C>T (p.Arg24=)
|
rs767698401
|
|
NM_018941.4(CLN8):c.731T>C (p.Ile244Thr)
|
|
|
NM_018941.4(CLN8):c.732C>G (p.Ile244Met)
|
rs747778614
|
|
NM_018941.4(CLN8):c.738T>C (p.Asn246=)
|
rs2129015283
|
|
NM_018941.4(CLN8):c.743A>G (p.Tyr248Cys)
|
|
|
NM_018941.4(CLN8):c.744T>C (p.Tyr248=)
|
rs2129015286
|
|
NM_018941.4(CLN8):c.745T>C (p.Trp249Arg)
|
|
|
NM_018941.4(CLN8):c.750C>T (p.Thr250=)
|
|
|
NM_018941.4(CLN8):c.759G>A (p.Lys253=)
|
rs1463644943
|
|
NM_018941.4(CLN8):c.763C>G (p.Gln255Glu)
|
rs746397087
|
|
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)
|
rs746397087
|
|
NM_018941.4(CLN8):c.766C>G (p.Gln256Glu)
|
rs386834138
|
|
NM_018941.4(CLN8):c.766C>T (p.Gln256Ter)
|
|
|
NM_018941.4(CLN8):c.76A>T (p.Thr26Ser)
|
|
|
NM_018941.4(CLN8):c.774C>T (p.Leu258=)
|
rs1801681630
|
|
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.780G>C (p.Pro260=)
|
rs761984333
|
|
NM_018941.4(CLN8):c.781G>A (p.Val261Met)
|
rs1482950665
|
|
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)
|
|
|
NM_018941.4(CLN8):c.788G>A (p.Trp263Ter)
|
rs878855053
|
|
NM_018941.4(CLN8):c.789G>C (p.Trp263Cys)
|
rs28940569
|
|
NM_018941.4(CLN8):c.792C>T (p.Asn264=)
|
rs587779411
|
|
NM_018941.4(CLN8):c.796G>T (p.Ala266Ser)
|
|
|
NM_018941.4(CLN8):c.797C>T (p.Ala266Val)
|
|
|
NM_018941.4(CLN8):c.798A>C (p.Ala266=)
|
rs754493769
|
|
NM_018941.4(CLN8):c.798A>G (p.Ala266=)
|
|
|
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.804A>G (p.Pro268=)
|
rs746305311
|
|
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.810C>G (p.Ala270=)
|
|
|
NM_018941.4(CLN8):c.812A>G (p.Lys271Arg)
|
rs914759366
|
|
NM_018941.4(CLN8):c.813G>A (p.Lys271=)
|
rs947633775
|
|
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.834G>A (p.Gly278=)
|
|
|
NM_018941.4(CLN8):c.835C>T (p.Gln279Ter)
|
|
|
NM_018941.4(CLN8):c.838C>T (p.Leu280=)
|
rs886043061
|
|
NM_018941.4(CLN8):c.841C>T (p.Leu281=)
|
|
|
NM_018941.4(CLN8):c.844C>A (p.Arg282=)
|
rs587780898
|
|
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.855G>A (p.Arg285=)
|
|
|
NM_018941.4(CLN8):c.859dup (p.Ter287LeuextTer?)
|
rs2129015346
|
|
NM_018941.4(CLN8):c.85G>T (p.Val29Phe)
|
|
|
NM_018941.4(CLN8):c.861G>A (p.Ter287=)
|
|
|
NM_018941.4(CLN8):c.88G>C (p.Ala30Pro)
|
rs137852883
|
|
NM_018941.4(CLN8):c.88G>T (p.Ala30Ser)
|
rs137852883
|
|
NM_018941.4(CLN8):c.88del (p.Ala30fs)
|
rs386834139
|
|
NM_018941.4(CLN8):c.90T>G (p.Ala30=)
|
|
|
NM_018941.4(CLN8):c.93C>T (p.Gly31=)
|
|
|
NM_018941.4(CLN8):c.94T>G (p.Phe32Val)
|
rs758068226
|
|
NM_018941.4(CLN8):c.97G>C (p.Val33Leu)
|
rs1801284979
|
|
NM_018941.4(CLN8):c.98T>C (p.Val33Ala)
|
rs1301388199
|
|