NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser)
|
rs149997095
|
0.00041
|
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg)
|
rs374826256
|
0.00041
|
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln)
|
rs550455609
|
0.00032
|
NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser)
|
rs150907052
|
0.00031
|
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg)
|
rs753397854
|
0.00029
|
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp)
|
rs946076987
|
0.00023
|
NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr)
|
rs148022786
|
0.00019
|
NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn)
|
rs142392473
|
0.00019
|
NM_005506.4(SCARB2):c.1328T>C (p.Met443Thr)
|
rs141250135
|
0.00016
|
NM_005506.4(SCARB2):c.244C>T (p.Arg82Trp)
|
rs142690468
|
0.00016
|
NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys)
|
rs145870223
|
0.00016
|
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser)
|
rs141919651
|
0.00015
|
NM_005670.4(EPM2A):c.776G>A (p.Gly259Glu)
|
rs200641543
|
0.00014
|
NM_004287.5(GOSR2):c.552G>T (p.Lys184Asn)
|
rs760846460
|
0.00012
|
NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met)
|
rs149474488
|
0.00012
|
NM_005506.4(SCARB2):c.38C>T (p.Ser13Phe)
|
rs144791636
|
0.00012
|
NM_005670.4(EPM2A):c.410A>G (p.Asn137Ser)
|
rs61757376
|
0.00012
|
NM_005506.4(SCARB2):c.1210A>G (p.Met404Val)
|
rs147142116
|
0.00011
|
NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys)
|
rs138955932
|
0.00011
|
NM_005670.4(EPM2A):c.490A>G (p.Ile164Val)
|
rs199856913
|
0.00011
|
NM_005670.4(EPM2A):c.644A>T (p.Asp215Val)
|
rs144565191
|
0.00011
|
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val)
|
rs374043005
|
0.00011
|
NM_000100.4(CSTB):c.145G>A (p.Ala49Thr)
|
rs559906825
|
0.00010
|
NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val)
|
rs144147706
|
0.00010
|
NM_005506.4(SCARB2):c.1265C>T (p.Ala422Val)
|
rs756606813
|
0.00010
|
NM_005506.4(SCARB2):c.826T>G (p.Ser276Ala)
|
rs188036542
|
0.00010
|
NM_005670.4(EPM2A):c.157G>A (p.Ala53Thr)
|
rs763719276
|
0.00010
|
NM_005670.4(EPM2A):c.49C>G (p.Arg17Gly)
|
rs767010700
|
0.00010
|
NM_005670.4(EPM2A):c.736C>T (p.Pro246Ser)
|
rs141975071
|
0.00010
|
NM_004287.5(GOSR2):c.203+3A>G
|
rs201423456
|
0.00009
|
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln)
|
rs368906199
|
0.00009
|
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr)
|
rs147324129
|
0.00008
|
NM_005670.4(EPM2A):c.222C>G (p.Asp74Glu)
|
rs748273406
|
0.00008
|
NM_000100.4(CSTB):c.29A>C (p.Gln10Pro)
|
rs569851503
|
0.00006
|
NM_004287.5(GOSR2):c.149G>A (p.Arg50His)
|
rs377765254
|
0.00006
|
NM_004287.5(GOSR2):c.393G>T (p.Gln131His)
|
rs182039780
|
0.00006
|
NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln)
|
rs751827409
|
0.00006
|
NM_005670.4(EPM2A):c.338A>G (p.Asn113Ser)
|
rs753867771
|
0.00006
|
NM_005670.4(EPM2A):c.436T>C (p.Tyr146His)
|
rs1393744393
|
0.00006
|
NM_005670.4(EPM2A):c.495G>T (p.Trp165Cys)
|
rs781291421
|
0.00006
|
NM_000100.4(CSTB):c.26C>T (p.Thr9Met)
|
rs778785343
|
0.00005
|
NM_004287.5(GOSR2):c.547G>A (p.Glu183Lys)
|
rs144472114
|
0.00005
|
NM_005506.4(SCARB2):c.1325T>C (p.Ile442Thr)
|
rs1064794450
|
0.00005
|
NM_000100.4(CSTB):c.175G>A (p.Val59Ile)
|
rs531685360
|
0.00004
|
NM_000100.4(CSTB):c.221C>T (p.Pro74Leu)
|
rs753004113
|
0.00004
|
NM_000100.4(CSTB):c.224A>G (p.His75Arg)
|
rs755073483
|
0.00004
|
NM_004287.5(GOSR2):c.272G>A (p.Arg91His)
|
rs145168042
|
0.00004
|
NM_004287.5(GOSR2):c.637T>C (p.Ter213Arg)
|
rs1229223114
|
0.00004
|
NM_004287.5(GOSR2):c.80A>G (p.Lys27Arg)
|
rs373000501
|
0.00004
|
NM_005506.4(SCARB2):c.911A>G (p.Asn304Ser)
|
rs150870503
|
0.00004
|
NM_005506.4(SCARB2):c.914C>T (p.Thr305Met)
|
rs148588727
|
0.00004
|
NM_005670.4(EPM2A):c.100C>G (p.Pro34Ala)
|
rs796052438
|
0.00004
|
NM_005670.4(EPM2A):c.632C>T (p.Pro211Leu)
|
rs148475381
|
0.00004
|
NM_005670.4(EPM2A):c.845A>G (p.Gln282Arg)
|
rs763098296
|
0.00004
|
NM_005670.4(EPM2A):c.904G>A (p.Ala302Thr)
|
rs755742563
|
0.00004
|
NM_005670.4(EPM2A):c.986G>A (p.Cys329Tyr)
|
rs780826386
|
0.00004
|
NM_000100.4(CSTB):c.167A>G (p.Lys56Arg)
|
rs935774172
|
0.00003
|
NM_004287.5(GOSR2):c.139C>T (p.Arg47Cys)
|
rs747328256
|
0.00003
|
NM_004287.5(GOSR2):c.269G>A (p.Arg90Gln)
|
rs760503363
|
0.00003
|
NM_004287.5(GOSR2):c.29+13C>T
|
rs747791818
|
0.00003
|
NM_004287.5(GOSR2):c.340T>C (p.Ser114Pro)
|
rs751635119
|
0.00003
|
NM_004287.5(GOSR2):c.510C>G (p.Asn170Lys)
|
rs34572603
|
0.00003
|
NM_004287.5(GOSR2):c.538C>T (p.Arg180Trp)
|
rs1305687118
|
0.00003
|
NM_004287.5(GOSR2):c.57G>A (p.Met19Ile)
|
rs369247929
|
0.00003
|
NM_004287.5(GOSR2):c.619G>A (p.Val207Met)
|
rs780839289
|
0.00003
|
NM_004287.5(GOSR2):c.71C>T (p.Thr24Met)
|
rs528931142
|
0.00003
|
NM_004287.5(GOSR2):c.8C>A (p.Pro3His)
|
rs1131691533
|
0.00003
|
NM_005506.4(SCARB2):c.1057A>G (p.Ile353Val)
|
rs542349309
|
0.00003
|
NM_005506.4(SCARB2):c.117G>A (p.Lys39=)
|
rs1006710581
|
0.00003
|
NM_005506.4(SCARB2):c.1249A>G (p.Ile417Val)
|
rs778593496
|
0.00003
|
NM_005506.4(SCARB2):c.280C>T (p.Leu94Phe)
|
rs752416481
|
0.00003
|
NM_005506.4(SCARB2):c.523G>A (p.Glu175Lys)
|
rs751711805
|
0.00003
|
NM_005506.4(SCARB2):c.863A>G (p.Gln288Arg)
|
rs963202088
|
0.00003
|
NM_005670.4(EPM2A):c.190G>A (p.Val64Met)
|
rs749279494
|
0.00003
|
NM_005670.4(EPM2A):c.214G>A (p.Ala72Thr)
|
rs992596583
|
0.00003
|
NM_005670.4(EPM2A):c.241G>A (p.Val81Met)
|
rs747386643
|
0.00003
|
NM_005670.4(EPM2A):c.304A>G (p.Asn102Asp)
|
rs376750373
|
0.00003
|
NM_005670.4(EPM2A):c.553G>A (p.Gly185Arg)
|
rs796052423
|
0.00003
|
NM_005670.4(EPM2A):c.631C>A (p.Pro211Thr)
|
rs748048885
|
0.00003
|
NM_005670.4(EPM2A):c.761C>T (p.Ala254Val)
|
rs138798058
|
0.00003
|
NM_005670.4(EPM2A):c.815G>A (p.Arg272His)
|
rs958366800
|
0.00003
|
NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys)
|
rs754779408
|
0.00003
|
NM_000100.4(CSTB):c.158A>G (p.Tyr53Cys)
|
rs762082236
|
0.00002
|
NM_000100.4(CSTB):c.235C>T (p.Pro79Ser)
|
rs766285245
|
0.00002
|
NM_004287.5(GOSR2):c.133T>C (p.Phe45Leu)
|
rs1060500714
|
0.00002
|
NM_004287.5(GOSR2):c.229G>A (p.Val77Ile)
|
rs1407806851
|
0.00002
|
NM_004287.5(GOSR2):c.268C>T (p.Arg90Trp)
|
rs201101417
|
0.00002
|
NM_004287.5(GOSR2):c.563A>G (p.Gln188Arg)
|
rs776748629
|
0.00002
|
NM_004287.5(GOSR2):c.579G>A (p.Met193Ile)
|
rs768377570
|
0.00002
|
NM_004287.5(GOSR2):c.68A>G (p.Glu23Gly)
|
rs200071814
|
0.00002
|
NM_004287.5(GOSR2):c.94+5G>A
|
rs754004382
|
0.00002
|
NM_005506.4(SCARB2):c.1105A>G (p.Ile369Val)
|
rs1311037416
|
0.00002
|
NM_005506.4(SCARB2):c.1235A>G (p.Asn412Ser)
|
rs771661901
|
0.00002
|
NM_005506.4(SCARB2):c.238A>C (p.Thr80Pro)
|
rs767397350
|
0.00002
|
NM_005506.4(SCARB2):c.515C>T (p.Thr172Ile)
|
rs557392749
|
0.00002
|
NM_005506.4(SCARB2):c.746A>G (p.Asn249Ser)
|
rs199837910
|
0.00002
|
NM_005506.4(SCARB2):c.816C>G (p.Asp272Glu)
|
rs370666555
|
0.00002
|
NM_005506.4(SCARB2):c.825-3C>T
|
rs772593602
|
0.00002
|
NM_005670.4(EPM2A):c.352G>A (p.Val118Met)
|
rs903313803
|
0.00002
|
NM_005670.4(EPM2A):c.446T>C (p.Ile149Thr)
|
rs796052430
|
0.00002
|
NM_005670.4(EPM2A):c.487A>G (p.Asn163Asp)
|
rs777767978
|
0.00002
|
NM_005670.4(EPM2A):c.595G>T (p.Val199Leu)
|
rs367827948
|
0.00002
|
NM_005670.4(EPM2A):c.715G>A (p.Glu239Lys)
|
rs373652439
|
0.00002
|
NM_005670.4(EPM2A):c.802G>A (p.Ala268Thr)
|
rs748514820
|
0.00002
|
NM_005670.4(EPM2A):c.934C>T (p.Arg312Trp)
|
rs766334722
|
0.00002
|
NM_000100.4(CSTB):c.155A>T (p.Asn52Ile)
|
rs541671661
|
0.00001
|
NM_000100.4(CSTB):c.160T>G (p.Phe54Val)
|
rs774291632
|
0.00001
|
NM_000100.4(CSTB):c.169G>T (p.Val57Leu)
|
rs796052394
|
0.00001
|
NM_000100.4(CSTB):c.16C>G (p.Pro6Ala)
|
rs1236504207
|
0.00001
|
NM_000100.4(CSTB):c.184G>A (p.Glu62Lys)
|
rs147307021
|
0.00001
|
NM_000100.4(CSTB):c.196C>T (p.His66Tyr)
|
rs748818442
|
0.00001
|
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs)
|
rs1044894207
|
0.00001
|
NM_000100.4(CSTB):c.268G>A (p.Ala90Thr)
|
rs761504637
|
0.00001
|
NM_000100.4(CSTB):c.269C>G (p.Ala90Gly)
|
rs138337167
|
0.00001
|
NM_000100.4(CSTB):c.274C>T (p.His92Tyr)
|
rs796052393
|
0.00001
|
NM_000100.4(CSTB):c.28C>G (p.Gln10Glu)
|
rs1399970116
|
0.00001
|
NM_000100.4(CSTB):c.290A>G (p.Tyr97Cys)
|
rs1186810947
|
0.00001
|
NM_000100.4(CSTB):c.85G>A (p.Glu29Lys)
|
rs1358304104
|
0.00001
|
NM_004287.5(GOSR2):c.104A>G (p.Asn35Ser)
|
rs148962223
|
0.00001
|
NM_004287.5(GOSR2):c.10C>G (p.Leu4Val)
|
rs756276963
|
0.00001
|
NM_004287.5(GOSR2):c.128A>G (p.Gln43Arg)
|
rs772763319
|
0.00001
|
NM_004287.5(GOSR2):c.140G>A (p.Arg47His)
|
rs771228855
|
0.00001
|
NM_004287.5(GOSR2):c.14T>A (p.Phe5Tyr)
|
rs897281647
|
0.00001
|
NM_004287.5(GOSR2):c.154G>A (p.Glu52Lys)
|
rs1286041018
|
0.00001
|
NM_004287.5(GOSR2):c.170A>G (p.Lys57Arg)
|
rs1396367618
|
0.00001
|
NM_004287.5(GOSR2):c.1A>G (p.Met1Val)
|
rs879328855
|
0.00001
|
NM_004287.5(GOSR2):c.205C>T (p.Arg69Trp)
|
rs770149230
|
0.00001
|
NM_004287.5(GOSR2):c.206G>C (p.Arg69Pro)
|
rs780211637
|
0.00001
|
NM_004287.5(GOSR2):c.247G>A (p.Ala83Thr)
|
rs920586501
|
0.00001
|
NM_004287.5(GOSR2):c.248C>T (p.Ala83Val)
|
rs577835455
|
0.00001
|
NM_004287.5(GOSR2):c.260T>C (p.Phe87Ser)
|
rs374912150
|
0.00001
|
NM_004287.5(GOSR2):c.266A>G (p.His89Arg)
|
rs1598989011
|
0.00001
|
NM_004287.5(GOSR2):c.28A>G (p.Lys10Glu)
|
rs1278419518
|
0.00001
|
NM_004287.5(GOSR2):c.29+3G>A
|
rs794726915
|
0.00001
|
NM_004287.5(GOSR2):c.331A>G (p.Thr111Ala)
|
rs780448159
|
0.00001
|
NM_004287.5(GOSR2):c.336C>T (p.Asn112=)
|
rs755211944
|
0.00001
|
NM_004287.5(GOSR2):c.358A>G (p.Met120Val)
|
rs769454681
|
0.00001
|
NM_004287.5(GOSR2):c.364G>A (p.Glu122Lys)
|
rs374613085
|
0.00001
|
NM_004287.5(GOSR2):c.371T>C (p.Leu124Pro)
|
rs1189596801
|
0.00001
|
NM_004287.5(GOSR2):c.451C>G (p.Leu151Val)
|
rs756144831
|
0.00001
|
NM_004287.5(GOSR2):c.541C>G (p.Leu181Val)
|
rs772342696
|
0.00001
|
NM_004287.5(GOSR2):c.553C>T (p.Arg185Trp)
|
rs771037415
|
0.00001
|
NM_004287.5(GOSR2):c.55A>G (p.Met19Val)
|
rs770329469
|
0.00001
|
NM_004287.5(GOSR2):c.56T>C (p.Met19Thr)
|
rs374861039
|
0.00001
|
NM_004287.5(GOSR2):c.77A>G (p.Asp26Gly)
|
rs773543394
|
0.00001
|
NM_004287.5(GOSR2):c.94+4A>G
|
rs796052540
|
0.00001
|
NM_005506.4(SCARB2):c.1015T>C (p.Phe339Leu)
|
rs780194648
|
0.00001
|
NM_005506.4(SCARB2):c.1039G>A (p.Glu347Lys)
|
rs559054010
|
0.00001
|
NM_005506.4(SCARB2):c.1067T>C (p.Met356Thr)
|
rs1010410881
|
0.00001
|
NM_005506.4(SCARB2):c.117+15G>T
|
rs762251387
|
0.00001
|
NM_005506.4(SCARB2):c.118-3T>G
|
rs755638994
|
0.00001
|
NM_005506.4(SCARB2):c.1187+2dup
|
rs727502783
|
0.00001
|
NM_005506.4(SCARB2):c.1194G>A (p.Thr398=)
|
rs574498998
|
0.00001
|
NM_005506.4(SCARB2):c.1208C>T (p.Thr403Ile)
|
rs770343701
|
0.00001
|
NM_005506.4(SCARB2):c.1239+8C>G
|
rs369265725
|
0.00001
|
NM_005506.4(SCARB2):c.1282A>G (p.Met428Val)
|
rs746370059
|
0.00001
|
NM_005506.4(SCARB2):c.1302C>G (p.Ile434Met)
|
rs1035540343
|
0.00001
|
NM_005506.4(SCARB2):c.1327A>G (p.Met443Val)
|
rs376806999
|
0.00001
|
NM_005506.4(SCARB2):c.1329G>A (p.Met443Ile)
|
rs1232863838
|
0.00001
|
NM_005506.4(SCARB2):c.1331C>T (p.Ala444Val)
|
rs773957659
|
0.00001
|
NM_005506.4(SCARB2):c.1339G>C (p.Val447Leu)
|
rs1350213956
|
0.00001
|
NM_005506.4(SCARB2):c.1369G>C (p.Ala457Pro)
|
rs757381866
|
0.00001
|
NM_005506.4(SCARB2):c.1382_1383del (p.Gln461fs)
|
rs1233094134
|
0.00001
|
NM_005506.4(SCARB2):c.1403C>T (p.Thr468Ile)
|
rs796052948
|
0.00001
|
NM_005506.4(SCARB2):c.1416A>C (p.Arg472Ser)
|
rs1191433680
|
0.00001
|
NM_005506.4(SCARB2):c.203A>G (p.Asn68Ser)
|
rs1394046858
|
0.00001
|
NM_005506.4(SCARB2):c.245G>A (p.Arg82Gln)
|
rs1422181706
|
0.00001
|
NM_005506.4(SCARB2):c.263C>T (p.Pro88Leu)
|
rs1732696835
|
0.00001
|
NM_005506.4(SCARB2):c.350A>G (p.Tyr117Cys)
|
rs754341111
|
0.00001
|
NM_005506.4(SCARB2):c.377G>C (p.Gly126Ala)
|
rs776680365
|
0.00001
|
NM_005506.4(SCARB2):c.463A>G (p.Ile155Val)
|
rs772434203
|
0.00001
|
NM_005506.4(SCARB2):c.469G>A (p.Glu157Lys)
|
rs760128942
|
0.00001
|
NM_005506.4(SCARB2):c.593A>G (p.Tyr198Cys)
|
rs1018285383
|
0.00001
|
NM_005506.4(SCARB2):c.612+5G>A
|
rs1019363350
|
0.00001
|
NM_005506.4(SCARB2):c.638A>T (p.Tyr213Phe)
|
rs751953388
|
0.00001
|
NM_005506.4(SCARB2):c.664T>C (p.Tyr222His)
|
rs1732253776
|
0.00001
|
NM_005506.4(SCARB2):c.704+5G>A
|
rs774271963
|
0.00001
|
NM_005506.4(SCARB2):c.705-7A>G
|
rs1217073681
|
0.00001
|
NM_005506.4(SCARB2):c.709C>G (p.Leu237Val)
|
rs200332825
|
0.00001
|
NM_005506.4(SCARB2):c.716G>T (p.Trp239Leu)
|
rs755176349
|
0.00001
|
NM_005506.4(SCARB2):c.766T>C (p.Phe256Leu)
|
rs1241257632
|
0.00001
|
NM_005506.4(SCARB2):c.787G>C (p.Asp263His)
|
rs759410840
|
0.00001
|
NM_005506.4(SCARB2):c.79C>T (p.Arg27Trp)
|
rs1466314804
|
0.00001
|
NM_005506.4(SCARB2):c.866G>A (p.Gly289Glu)
|
rs777478545
|
0.00001
|
NM_005506.4(SCARB2):c.953G>T (p.Cys318Phe)
|
rs148780369
|
0.00001
|
NM_005670.4(EPM2A):c.145G>A (p.Asp49Asn)
|
rs1367012950
|
0.00001
|
NM_005670.4(EPM2A):c.149G>T (p.Gly50Val)
|
rs796052422
|
0.00001
|
NM_005670.4(EPM2A):c.170C>T (p.Pro57Leu)
|
rs1229724993
|
0.00001
|
NM_005670.4(EPM2A):c.181C>G (p.Leu61Val)
|
rs563875151
|
0.00001
|
NM_005670.4(EPM2A):c.193G>A (p.Glu65Lys)
|
rs796052425
|
0.00001
|
NM_005670.4(EPM2A):c.212C>A (p.Ala71Glu)
|
rs1263035227
|
0.00001
|
NM_005670.4(EPM2A):c.215C>T (p.Ala72Val)
|
rs1284392729
|
0.00001
|
NM_005670.4(EPM2A):c.223G>A (p.Gly75Arg)
|
rs1184012721
|
0.00001
|
NM_005670.4(EPM2A):c.262T>C (p.Phe88Leu)
|
rs1463000703
|
0.00001
|
NM_005670.4(EPM2A):c.271C>T (p.Arg91Trp)
|
rs752244019
|
0.00001
|
NM_005670.4(EPM2A):c.272G>A (p.Arg91Gln)
|
rs767203075
|
0.00001
|
NM_005670.4(EPM2A):c.278C>T (p.Pro93Leu)
|
rs1239406349
|
0.00001
|
NM_005670.4(EPM2A):c.289C>G (p.Leu97Val)
|
rs1398721266
|
0.00001
|
NM_005670.4(EPM2A):c.301+4T>C
|
rs761970395
|
0.00001
|
NM_005670.4(EPM2A):c.301+5T>C
|
rs776655093
|
0.00001
|
NM_005670.4(EPM2A):c.305A>G (p.Asn102Ser)
|
rs1448945231
|
0.00001
|
NM_005670.4(EPM2A):c.323G>A (p.Arg108His)
|
rs202234583
|
0.00001
|
NM_005670.4(EPM2A):c.332C>G (p.Thr111Ser)
|
rs1480939817
|
0.00001
|
NM_005670.4(EPM2A):c.335A>G (p.Tyr112Cys)
|
rs757199020
|
0.00001
|
NM_005670.4(EPM2A):c.397A>G (p.Thr133Ala)
|
rs773728573
|
0.00001
|
NM_005670.4(EPM2A):c.427A>G (p.Thr143Ala)
|
rs144204777
|
0.00001
|
NM_005670.4(EPM2A):c.437A>T (p.Tyr146Phe)
|
rs1780893400
|
0.00001
|
NM_005670.4(EPM2A):c.43G>A (p.Gly15Ser)
|
rs1310207444
|
0.00001
|
NM_005670.4(EPM2A):c.449C>T (p.Ala150Val)
|
rs753781421
|
0.00001
|
NM_005670.4(EPM2A):c.496C>G (p.Leu166Val)
|
rs147645370
|
0.00001
|
NM_005670.4(EPM2A):c.511C>T (p.Arg171Cys)
|
rs371974399
|
0.00001
|
NM_005670.4(EPM2A):c.524A>G (p.His175Arg)
|
rs1264840627
|
0.00001
|
NM_005670.4(EPM2A):c.569T>A (p.Met190Lys)
|
rs191406622
|
0.00001
|
NM_005670.4(EPM2A):c.600G>T (p.Gln200His)
|
rs142658692
|
0.00001
|
NM_005670.4(EPM2A):c.619C>T (p.Arg207Cys)
|
rs186710183
|
0.00001
|
NM_005670.4(EPM2A):c.676T>G (p.Leu226Val)
|
rs754313309
|
0.00001
|
NM_005670.4(EPM2A):c.70G>T (p.Gly24Trp)
|
rs1554269710
|
0.00001
|
NM_005670.4(EPM2A):c.719-2A>T
|
rs772082648
|
0.00001
|
NM_005670.4(EPM2A):c.814C>T (p.Arg272Cys)
|
rs765820100
|
0.00001
|
NM_005670.4(EPM2A):c.824C>T (p.Ala275Val)
|
rs1027738243
|
0.00001
|
NM_005670.4(EPM2A):c.935G>A (p.Arg312Gln)
|
rs762852066
|
0.00001
|
NM_005670.4(EPM2A):c.937G>A (p.Ala313Thr)
|
rs189479757
|
0.00001
|
NM_005670.4(EPM2A):c.970G>T (p.Val324Phe)
|
rs941854726
|
0.00001
|
NM_005670.4(EPM2A):c.973C>T (p.Arg325Cys)
|
rs746413047
|
0.00001
|
NM_005670.4(EPM2A):c.974G>A (p.Arg325His)
|
rs777308612
|
0.00001
|
NC_000004.11:g.(?_77082846)_(77102274_?)dup
|
|
|
NC_000004.11:g.(?_77082866)_(77102264_?)del
|
|
|
NC_000004.11:g.(?_77082866)_(77102274_?)dup
|
|
|
NC_000004.11:g.(?_77116840)_(77134696_?)dup
|
|
|
NC_000004.11:g.(?_77116840)_(77134716_?)dup
|
|
|
NC_000004.11:g.(?_77116850)_(77134696_?)dup
|
|
|
NC_000017.10:g.(?_44845686)_(45016126_?)dup
|
|
|
NC_000017.10:g.(?_45000559)_(45016126_?)dup
|
|
|
NC_000021.8:g.(?_44838120)_(45629566_?)dup
|
|
|
NC_000021.8:g.(?_44838130)_(45196150_?)dup
|
|
|
NC_000021.8:g.(?_45194063)_(45196170_?)dup
|
|
|
NC_000021.9:g.(?_43772665)_(43777375_?)dup
|
|
|
NM_000100.4(CSTB):c.100A>G (p.Lys34Glu)
|
rs2084002121
|
|
NM_000100.4(CSTB):c.106C>T (p.Pro36Ser)
|
rs748162136
|
|
NM_000100.4(CSTB):c.113T>A (p.Phe38Tyr)
|
rs1365612504
|
|
NM_000100.4(CSTB):c.116A>G (p.Lys39Arg)
|
|
|
NM_000100.4(CSTB):c.137A>G (p.Gln46Arg)
|
|
|
NM_000100.4(CSTB):c.139G>C (p.Val47Leu)
|
rs140799752
|
|
NM_000100.4(CSTB):c.140T>G (p.Val47Gly)
|
rs2084001744
|
|
NM_000100.4(CSTB):c.146C>A (p.Ala49Glu)
|
rs754421704
|
|
NM_000100.4(CSTB):c.168+5A>G
|
|
|
NM_000100.4(CSTB):c.168+6G>C
|
|
|
NM_000100.4(CSTB):c.169G>A (p.Val57Met)
|
rs796052394
|
|
NM_000100.4(CSTB):c.172C>T (p.His58Tyr)
|
rs2083999686
|
|
NM_000100.4(CSTB):c.17C>T (p.Pro6Leu)
|
|
|
NM_000100.4(CSTB):c.189C>G (p.Asp63Glu)
|
|
|
NM_000100.4(CSTB):c.191T>G (p.Phe64Cys)
|
rs1569005540
|
|
NM_000100.4(CSTB):c.193G>A (p.Val65Ile)
|
rs570768038
|
|
NM_000100.4(CSTB):c.193G>C (p.Val65Leu)
|
rs570768038
|
|
NM_000100.4(CSTB):c.203G>C (p.Arg68Pro)
|
rs757707761
|
|
NM_000100.4(CSTB):c.214T>C (p.Ser72Pro)
|
rs796052392
|
|
NM_000100.4(CSTB):c.232A>C (p.Lys78Gln)
|
rs2083999131
|
|
NM_000100.4(CSTB):c.251_254del (p.Asn84fs)
|
rs1555888363
|
|
NM_000100.4(CSTB):c.26C>A (p.Thr9Lys)
|
rs778785343
|
|
NM_000100.4(CSTB):c.295T>C (p.Ter99Arg)
|
rs2083998796
|
|
NM_000100.4(CSTB):c.31C>T (p.Pro11Ser)
|
rs2084009509
|
|
NM_000100.4(CSTB):c.34G>A (p.Ala12Thr)
|
|
|
NM_000100.4(CSTB):c.47C>T (p.Thr16Ile)
|
rs2084009370
|
|
NM_000100.4(CSTB):c.55A>G (p.Ile19Val)
|
rs1349028244
|
|
NM_000100.4(CSTB):c.66+3G>C
|
|
|
NM_000100.4(CSTB):c.96_98del (p.Asn32del)
|
rs750620672
|
|
NM_000100.4(CSTB):c.9C>G (p.Cys3Trp)
|
rs555930471
|
|
NM_004287.5(GOSR2):c.101A>G (p.Glu34Gly)
|
rs1598980284
|
|
NM_004287.5(GOSR2):c.103A>G (p.Asn35Asp)
|
rs2087304609
|
|
NM_004287.5(GOSR2):c.106G>A (p.Glu36Lys)
|
|
|
NM_004287.5(GOSR2):c.121A>G (p.Ile41Val)
|
|
|
NM_004287.5(GOSR2):c.122T>C (p.Ile41Thr)
|
rs2087307019
|
|
NM_004287.5(GOSR2):c.136A>G (p.Ser46Gly)
|
rs534119817
|
|
NM_004287.5(GOSR2):c.15C>G (p.Phe5Leu)
|
rs2085950798
|
|
NM_004287.5(GOSR2):c.162G>T (p.Leu54Phe)
|
|
|
NM_004287.5(GOSR2):c.167G>T (p.Ser56Ile)
|
rs751458272
|
|
NM_004287.5(GOSR2):c.169A>G (p.Lys57Glu)
|
|
|
NM_004287.5(GOSR2):c.176C>T (p.Pro59Leu)
|
rs1252615412
|
|
NM_004287.5(GOSR2):c.199_200delinsCA (p.Arg67Gln)
|
rs1555709548
|
|
NM_004287.5(GOSR2):c.205C>A (p.Arg69=)
|
rs770149230
|
|
NM_004287.5(GOSR2):c.206G>A (p.Arg69Gln)
|
rs780211637
|
|
NM_004287.5(GOSR2):c.20A>G (p.Gln7Arg)
|
rs2085951116
|
|
NM_004287.5(GOSR2):c.226G>C (p.Asp76His)
|
rs2146912195
|
|
NM_004287.5(GOSR2):c.235C>T (p.His79Tyr)
|
rs1568171907
|
|
NM_004287.5(GOSR2):c.251T>C (p.Leu84Pro)
|
rs2087482910
|
|
NM_004287.5(GOSR2):c.258C>G (p.Asn86Lys)
|
rs1598988935
|
|
NM_004287.5(GOSR2):c.271C>T (p.Arg91Cys)
|
rs2087485301
|
|
NM_004287.5(GOSR2):c.278C>T (p.Ala93Val)
|
rs2146913099
|
|
NM_004287.5(GOSR2):c.283G>A (p.Glu95Lys)
|
rs2146913169
|
|
NM_004287.5(GOSR2):c.285G>C (p.Glu95Asp)
|
rs2146913197
|
|
NM_004287.5(GOSR2):c.29+13C>A
|
|
|
NM_004287.5(GOSR2):c.298C>A (p.Gln100Lys)
|
rs759305157
|
|
NM_004287.5(GOSR2):c.300G>C (p.Gln100His)
|
rs2087488656
|
|
NM_004287.5(GOSR2):c.302G>A (p.Arg101Gln)
|
|
|
NM_004287.5(GOSR2):c.31C>G (p.Gln11Glu)
|
rs2146850344
|
|
NM_004287.5(GOSR2):c.320G>C (p.Arg107Pro)
|
rs750960207
|
|
NM_004287.5(GOSR2):c.350C>T (p.Thr117Ile)
|
rs1599019391
|
|
NM_004287.5(GOSR2):c.354A>G (p.Ile118Met)
|
|
|
NM_004287.5(GOSR2):c.374A>G (p.Gln125Arg)
|
|
|
NM_004287.5(GOSR2):c.380A>G (p.Asn127Ser)
|
|
|
NM_004287.5(GOSR2):c.383C>A (p.Ser128Tyr)
|
|
|
NM_004287.5(GOSR2):c.397G>A (p.Val133Ile)
|
|
|
NM_004287.5(GOSR2):c.3G>A (p.Met1Ile)
|
rs1174104260
|
|
NM_004287.5(GOSR2):c.3G>T (p.Met1Ile)
|
|
|
NM_004287.5(GOSR2):c.406G>A (p.Gly136Ser)
|
|
|
NM_004287.5(GOSR2):c.428A>T (p.Asp143Val)
|
rs2088079257
|
|
NM_004287.5(GOSR2):c.432_449del (p.His145_Gly150del)
|
rs1381386644
|
|
NM_004287.5(GOSR2):c.439A>G (p.Ile147Val)
|
rs757363374
|
|
NM_004287.5(GOSR2):c.446A>G (p.Asp149Gly)
|
rs2088083666
|
|
NM_004287.5(GOSR2):c.460_461dup (p.Gln154fs)
|
|
|
NM_004287.5(GOSR2):c.477+6G>T
|
rs1568177911
|
|
NM_004287.5(GOSR2):c.478-7_478-6insAGAACAGAAG
|
|
|
NM_004287.5(GOSR2):c.478G>C (p.Gly160Arg)
|
|
|
NM_004287.5(GOSR2):c.47A>C (p.Gln16Pro)
|
rs746688685
|
|
NM_004287.5(GOSR2):c.494T>C (p.Ile165Thr)
|
|
|
NM_004287.5(GOSR2):c.4G>A (p.Asp2Asn)
|
rs1425442098
|
|
NM_004287.5(GOSR2):c.506C>G (p.Ala169Gly)
|
rs2088814830
|
|
NM_004287.5(GOSR2):c.50C>T (p.Ser17Phe)
|
|
|
NM_004287.5(GOSR2):c.524C>A (p.Ser175Tyr)
|
|
|
NM_004287.5(GOSR2):c.539G>A (p.Arg180Gln)
|
rs1348639194
|
|
NM_004287.5(GOSR2):c.557_584del (p.Ala186fs)
|
rs796052541
|
|
NM_004287.5(GOSR2):c.568A>G (p.Lys190Glu)
|
rs765094724
|
|
NM_004287.5(GOSR2):c.578T>C (p.Met193Thr)
|
rs1328118330
|
|
NM_004287.5(GOSR2):c.596T>C (p.Leu199Pro)
|
|
|
NM_004287.5(GOSR2):c.611T>G (p.Met204Arg)
|
rs2147051685
|
|
NM_004287.5(GOSR2):c.619G>T (p.Val207Leu)
|
rs780839289
|
|
NM_004287.5(GOSR2):c.634A>G (p.Thr212Ala)
|
rs956070241
|
|
NM_004287.5(GOSR2):c.639A>G (p.Ter213Trp)
|
rs2147052419
|
|
NM_004287.5(GOSR2):c.6T>A (p.Asp2Glu)
|
|
|
NM_004287.5(GOSR2):c.79A>C (p.Lys27Gln)
|
rs760997502
|
|
NM_004287.5(GOSR2):c.7C>G (p.Pro3Ala)
|
rs12944167
|
|
NM_004287.5(GOSR2):c.7C>T (p.Pro3Ser)
|
rs12944167
|
|
NM_004287.5(GOSR2):c.92A>G (p.His31Arg)
|
|
|
NM_004287.5(GOSR2):c.94A>G (p.Ile32Val)
|
rs2086996915
|
|
NM_004287.5(GOSR2):c.96A>G (p.Ile32Met)
|
rs2146890867
|
|
NM_005506.4(SCARB2):c.1034C>A (p.Ala345Glu)
|
|
|
NM_005506.4(SCARB2):c.1043G>A (p.Arg348Lys)
|
rs1435706864
|
|
NM_005506.4(SCARB2):c.105G>T (p.Gln35His)
|
|
|
NM_005506.4(SCARB2):c.1066A>C (p.Met356Leu)
|
|
|
NM_005506.4(SCARB2):c.1097T>C (p.Phe366Ser)
|
rs1374602411
|
|
NM_005506.4(SCARB2):c.1114-3C>T
|
rs1560705500
|
|
NM_005506.4(SCARB2):c.1118C>T (p.Thr373Ile)
|
rs1732061373
|
|
NM_005506.4(SCARB2):c.1142A>G (p.Lys381Arg)
|
|
|
NM_005506.4(SCARB2):c.117+3G>A
|
rs1733107604
|
|
NM_005506.4(SCARB2):c.117+6G>C
|
rs2109974158
|
|
NM_005506.4(SCARB2):c.1172A>C (p.Lys391Thr)
|
rs1732060256
|
|
NM_005506.4(SCARB2):c.1188-3T>C
|
rs1251392642
|
|
NM_005506.4(SCARB2):c.11G>A (p.Cys4Tyr)
|
rs1196467385
|
|
NM_005506.4(SCARB2):c.1201A>G (p.Ile401Val)
|
rs1405139421
|
|
NM_005506.4(SCARB2):c.1229A>T (p.Tyr410Phe)
|
rs777270813
|
|
NM_005506.4(SCARB2):c.1249A>T (p.Ile417Phe)
|
|
|
NM_005506.4(SCARB2):c.1283T>C (p.Met428Thr)
|
rs2109931937
|
|
NM_005506.4(SCARB2):c.1307C>T (p.Thr436Ile)
|
rs1731937544
|
|
NM_005506.4(SCARB2):c.1312A>G (p.Ile438Val)
|
|
|
NM_005506.4(SCARB2):c.1313T>C (p.Ile438Thr)
|
|
|
NM_005506.4(SCARB2):c.1319A>G (p.Tyr440Cys)
|
|
|
NM_005506.4(SCARB2):c.1365G>C (p.Trp455Cys)
|
rs995674389
|
|
NM_005506.4(SCARB2):c.1369G>A (p.Ala457Thr)
|
|
|
NM_005506.4(SCARB2):c.1373G>T (p.Cys458Phe)
|
rs1578712032
|
|
NM_005506.4(SCARB2):c.1378G>A (p.Gly460Arg)
|
|
|
NM_005506.4(SCARB2):c.1393G>A (p.Asp465Asn)
|
rs1238888097
|
|
NM_005506.4(SCARB2):c.1399-11C>G
|
rs1392686046
|
|
NM_005506.4(SCARB2):c.140C>T (p.Thr47Ile)
|
rs1732700794
|
|
NM_005506.4(SCARB2):c.1412A>T (p.Glu471Val)
|
rs755903502
|
|
NM_005506.4(SCARB2):c.1430G>A (p.Arg477Gln)
|
rs1480481844
|
|
NM_005506.4(SCARB2):c.1432del (p.Thr478fs)
|
rs756112626
|
|
NM_005506.4(SCARB2):c.1433C>A (p.Thr478Asn)
|
rs2109930564
|
|
NM_005506.4(SCARB2):c.160G>A (p.Glu54Lys)
|
|
|
NM_005506.4(SCARB2):c.166C>T (p.Pro56Ser)
|
rs2109960897
|
|
NM_005506.4(SCARB2):c.172C>G (p.Leu58Val)
|
|
|
NM_005506.4(SCARB2):c.178G>T (p.Val60Leu)
|
rs1287892295
|
|
NM_005506.4(SCARB2):c.212A>G (p.Asn71Ser)
|
|
|
NM_005506.4(SCARB2):c.223A>T (p.Ile75Phe)
|
rs1560716099
|
|
NM_005506.4(SCARB2):c.231A>T (p.Arg77Ser)
|
|
|
NM_005506.4(SCARB2):c.232G>A (p.Gly78Arg)
|
|
|
NM_005506.4(SCARB2):c.237G>C (p.Glu79Asp)
|
rs1348033527
|
|
NM_005506.4(SCARB2):c.245G>T (p.Arg82Leu)
|
rs1422181706
|
|
NM_005506.4(SCARB2):c.251A>G (p.Glu84Gly)
|
|
|
NM_005506.4(SCARB2):c.256G>A (p.Val86Met)
|
rs1732697033
|
|
NM_005506.4(SCARB2):c.268A>C (p.Thr90Pro)
|
rs1732696609
|
|
NM_005506.4(SCARB2):c.299T>C (p.Ile100Thr)
|
rs2109948743
|
|
NM_005506.4(SCARB2):c.314A>T (p.Asn105Ile)
|
rs1732373905
|
|
NM_005506.4(SCARB2):c.328T>C (p.Ser110Pro)
|
|
|
NM_005506.4(SCARB2):c.343A>C (p.Lys115Gln)
|
rs1732373432
|
|
NM_005506.4(SCARB2):c.346G>A (p.Ala116Thr)
|
|
|
NM_005506.4(SCARB2):c.346G>T (p.Ala116Ser)
|
rs1732373270
|
|
NM_005506.4(SCARB2):c.353T>G (p.Val118Gly)
|
|
|
NM_005506.4(SCARB2):c.365A>T (p.Asp122Val)
|
|
|
NM_005506.4(SCARB2):c.366C>G (p.Asp122Glu)
|
rs2109948680
|
|
NM_005506.4(SCARB2):c.381C>G (p.Asp127Glu)
|
rs1553948511
|
|
NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser)
|
rs143558324
|
|
NM_005506.4(SCARB2):c.424-19A>G
|
|
|
NM_005506.4(SCARB2):c.440C>T (p.Ser147Phe)
|
|
|
NM_005506.4(SCARB2):c.443A>G (p.Gln148Arg)
|
rs1560710284
|
|
NM_005506.4(SCARB2):c.451T>A (p.Phe151Ile)
|
rs1732338247
|
|
NM_005506.4(SCARB2):c.451T>C (p.Phe151Leu)
|
rs1732338247
|
|
NM_005506.4(SCARB2):c.465C>G (p.Ile155Met)
|
|
|
NM_005506.4(SCARB2):c.488A>G (p.Tyr163Cys)
|
rs1326652823
|
|
NM_005506.4(SCARB2):c.508A>T (p.Thr170Ser)
|
rs2109947296
|
|
NM_005506.4(SCARB2):c.511C>T (p.His171Tyr)
|
rs756489019
|
|
NM_005506.4(SCARB2):c.523G>C (p.Glu175Gln)
|
rs751711805
|
|
NM_005506.4(SCARB2):c.527T>C (p.Leu176Ser)
|
|
|
NM_005506.4(SCARB2):c.541A>C (p.Lys181Gln)
|
|
|
NM_005506.4(SCARB2):c.55_75del (p.Thr19_Val25del)
|
rs1401788267
|
|
NM_005506.4(SCARB2):c.584T>G (p.Ile195Ser)
|
rs2109947161
|
|
NM_005506.4(SCARB2):c.605T>C (p.Phe202Ser)
|
rs768181886
|
|
NM_005506.4(SCARB2):c.638A>C (p.Tyr213Ser)
|
rs751953388
|
|
NM_005506.4(SCARB2):c.65C>T (p.Thr22Met)
|
rs1733110733
|
|
NM_005506.4(SCARB2):c.705-3T>C
|
|
|
NM_005506.4(SCARB2):c.705G>A (p.Thr235=)
|
rs2109943699
|
|
NM_005506.4(SCARB2):c.713A>G (p.Asp238Gly)
|
rs1732242578
|
|
NM_005506.4(SCARB2):c.727G>A (p.Asp243Asn)
|
rs751498101
|
|
NM_005506.4(SCARB2):c.72G>A (p.Leu24=)
|
rs2109974267
|
|
NM_005506.4(SCARB2):c.741_743del (p.Met247del)
|
rs1732241629
|
|
NM_005506.4(SCARB2):c.752C>T (p.Thr251Ile)
|
rs1553948166
|
|
NM_005506.4(SCARB2):c.764C>T (p.Ser255Phe)
|
rs1211983888
|
|
NM_005506.4(SCARB2):c.781A>G (p.Thr261Ala)
|
rs1732241039
|
|
NM_005506.4(SCARB2):c.802G>A (p.Val268Ile)
|
|
|
NM_005506.4(SCARB2):c.833A>G (p.Tyr278Cys)
|
rs774730087
|
|
NM_005506.4(SCARB2):c.839C>G (p.Thr280Ser)
|
rs768765087
|
|
NM_005506.4(SCARB2):c.854A>G (p.Glu285Gly)
|
|
|
NM_005506.4(SCARB2):c.869T>A (p.Leu290Gln)
|
rs1553948019
|
|
NM_005506.4(SCARB2):c.881G>A (p.Arg294Gln)
|
rs752667549
|
|
NM_005506.4(SCARB2):c.889G>C (p.Val297Leu)
|
|
|
NM_005506.4(SCARB2):c.8G>A (p.Arg3Gln)
|
rs937537878
|
|
NM_005506.4(SCARB2):c.901A>G (p.Ile301Val)
|
rs2109941946
|
|
NM_005506.4(SCARB2):c.903A>G (p.Ile301Met)
|
rs1485497925
|
|
NM_005506.4(SCARB2):c.910A>G (p.Asn304Asp)
|
rs1732197179
|
|
NM_005506.4(SCARB2):c.951C>G (p.Asn317Lys)
|
rs1732195814
|
|
NM_005506.4(SCARB2):c.962C>T (p.Ser321Leu)
|
rs1553947990
|
|
NM_005506.4(SCARB2):c.967G>A (p.Val323Ile)
|
rs2109941801
|
|
NM_005506.4(SCARB2):c.970C>G (p.Leu324Val)
|
rs1732195035
|
|
NM_005506.4(SCARB2):c.986G>A (p.Cys329Tyr)
|
|
|
NM_005506.4(SCARB2):c.998C>T (p.Ala333Val)
|
rs2109937871
|
|
NM_005670.4(EPM2A):c.101C>A (p.Pro34Gln)
|
rs1776814515
|
|
NM_005670.4(EPM2A):c.101C>T (p.Pro34Leu)
|
|
|
NM_005670.4(EPM2A):c.112_153dup (p.Val38_Ala51dup)
|
rs1339413651
|
|
NM_005670.4(EPM2A):c.118C>A (p.Leu40Met)
|
|
|
NM_005670.4(EPM2A):c.11G>A (p.Arg4His)
|
|
|
NM_005670.4(EPM2A):c.125C>T (p.Pro42Leu)
|
|
|
NM_005670.4(EPM2A):c.130G>A (p.Gly44Ser)
|
|
|
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr)
|
rs374338349
|
|
NM_005670.4(EPM2A):c.141G>A (p.Ala47=)
|
rs1363081086
|
|
NM_005670.4(EPM2A):c.148G>T (p.Gly50Trp)
|
|
|
NM_005670.4(EPM2A):c.149G>A (p.Gly50Glu)
|
rs796052422
|
|
NM_005670.4(EPM2A):c.14T>G (p.Phe5Cys)
|
rs2128650105
|
|
NM_005670.4(EPM2A):c.155T>G (p.Leu52Arg)
|
|
|
NM_005670.4(EPM2A):c.158C>T (p.Ala53Val)
|
rs1776804791
|
|
NM_005670.4(EPM2A):c.158_159inv (p.Ala53Gly)
|
|
|
NM_005670.4(EPM2A):c.164A>C (p.Gln55Pro)
|
rs1776803315
|
|
NM_005670.4(EPM2A):c.166G>C (p.Glu56Gln)
|
rs796052424
|
|
NM_005670.4(EPM2A):c.169C>A (p.Pro57Thr)
|
rs1308438113
|
|
NM_005670.4(EPM2A):c.16G>C (p.Gly6Arg)
|
rs1776824378
|
|
NM_005670.4(EPM2A):c.194_214dup (p.Ala71_Ala72insGluLeuAlaAlaGluGluAla)
|
|
|
NM_005670.4(EPM2A):c.206_207delinsGC (p.Glu69Gly)
|
rs1583156284
|
|
NM_005670.4(EPM2A):c.211_231dup (p.Ala71_Glu77dup)
|
rs2128649485
|
|
NM_005670.4(EPM2A):c.212C>T (p.Ala71Val)
|
rs1263035227
|
|
NM_005670.4(EPM2A):c.217C>G (p.Gln73Glu)
|
rs1165179833
|
|
NM_005670.4(EPM2A):c.226G>C (p.Ala76Pro)
|
rs1333556119
|
|
NM_005670.4(EPM2A):c.22G>A (p.Val8Met)
|
rs1326700627
|
|
NM_005670.4(EPM2A):c.235G>T (p.Gly79Cys)
|
rs374826256
|
|
NM_005670.4(EPM2A):c.248C>T (p.Thr83Met)
|
rs780634800
|
|
NM_005670.4(EPM2A):c.275A>G (p.Glu92Gly)
|
rs1776788119
|
|
NM_005670.4(EPM2A):c.281G>A (p.Gly94Glu)
|
rs2128649334
|
|
NM_005670.4(EPM2A):c.298_299delinsTT (p.Glu100Leu)
|
|
|
NM_005670.4(EPM2A):c.301+5T>G
|
rs776655093
|
|
NM_005670.4(EPM2A):c.31C>T (p.Pro11Ser)
|
rs1583157330
|
|
NM_005670.4(EPM2A):c.347A>G (p.Asn116Ser)
|
|
|
NM_005670.4(EPM2A):c.34G>A (p.Ala12Thr)
|
rs1776822048
|
|
NM_005670.4(EPM2A):c.37G>A (p.Val13Met)
|
rs567454946
|
|
NM_005670.4(EPM2A):c.37G>C (p.Val13Leu)
|
rs567454946
|
|
NM_005670.4(EPM2A):c.394G>T (p.Ala132Ser)
|
rs1054138980
|
|
NM_005670.4(EPM2A):c.406A>G (p.Thr136Ala)
|
rs746523076
|
|
NM_005670.4(EPM2A):c.424A>G (p.Thr142Ala)
|
|
|
NM_005670.4(EPM2A):c.447T>G (p.Ile149Met)
|
rs2128614175
|
|
NM_005670.4(EPM2A):c.452G>A (p.Gly151Asp)
|
rs1173939028
|
|
NM_005670.4(EPM2A):c.464T>C (p.Met155Thr)
|
rs1199898061
|
|
NM_005670.4(EPM2A):c.476+5A>G
|
rs1780888090
|
|
NM_005670.4(EPM2A):c.4C>A (p.Arg2Ser)
|
|
|
NM_005670.4(EPM2A):c.4C>T (p.Arg2Cys)
|
rs796052431
|
|
NM_005670.4(EPM2A):c.4_39del (p.Arg2_Val13del)
|
rs1583157261
|
|
NM_005670.4(EPM2A):c.505T>C (p.Cys169Arg)
|
rs1776588357
|
|
NM_005670.4(EPM2A):c.539T>C (p.Leu180Pro)
|
rs1490039469
|
|
NM_005670.4(EPM2A):c.53C>A (p.Pro18Gln)
|
rs1422428137
|
|
NM_005670.4(EPM2A):c.55G>A (p.Glu19Lys)
|
rs2128649959
|
|
NM_005670.4(EPM2A):c.560C>G (p.Thr187Arg)
|
rs1582935082
|
|
NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile)
|
rs1582935082
|
|
NM_005670.4(EPM2A):c.568A>G (p.Met190Val)
|
|
|
NM_005670.4(EPM2A):c.575T>C (p.Phe192Ser)
|
rs2128562619
|
|
NM_005670.4(EPM2A):c.58C>G (p.Leu20Val)
|
|
|
NM_005670.4(EPM2A):c.59T>A (p.Leu20Gln)
|
rs2128649947
|
|
NM_005670.4(EPM2A):c.634A>G (p.Met212Val)
|
rs1562424241
|
|
NM_005670.4(EPM2A):c.636G>A (p.Met212Ile)
|
rs1776570738
|
|
NM_005670.4(EPM2A):c.639_640delinsAA (p.Pro214Thr)
|
rs1554256996
|
|
NM_005670.4(EPM2A):c.640C>G (p.Pro214Ala)
|
rs1278542056
|
|
NM_005670.4(EPM2A):c.64G>C (p.Val22Leu)
|
rs1776818861
|
|
NM_005670.4(EPM2A):c.651G>A (p.Met217Ile)
|
rs2128562483
|
|
NM_005670.4(EPM2A):c.65T>A (p.Val22Glu)
|
rs1776818676
|
|
NM_005670.4(EPM2A):c.67G>C (p.Val23Leu)
|
rs1060503233
|
|
NM_005670.4(EPM2A):c.698C>T (p.Thr233Ile)
|
|
|
NM_005670.4(EPM2A):c.701C>A (p.Pro234Gln)
|
rs1554256976
|
|
NM_005670.4(EPM2A):c.706A>G (p.Met236Val)
|
rs906096146
|
|
NM_005670.4(EPM2A):c.707T>C (p.Met236Thr)
|
rs1776560298
|
|
NM_005670.4(EPM2A):c.70G>C (p.Gly24Arg)
|
rs1554269710
|
|
NM_005670.4(EPM2A):c.716A>T (p.Glu239Val)
|
|
|
NM_005670.4(EPM2A):c.721C>G (p.Arg241Gly)
|
rs104893950
|
|
NM_005670.4(EPM2A):c.731T>G (p.Met244Arg)
|
rs749563452
|
|
NM_005670.4(EPM2A):c.758A>G (p.His253Arg)
|
rs749937487
|
|
NM_005670.4(EPM2A):c.767T>C (p.Leu256Pro)
|
rs2128556216
|
|
NM_005670.4(EPM2A):c.770A>G (p.Glu257Gly)
|
rs1351520468
|
|
NM_005670.4(EPM2A):c.77G>T (p.Arg26Leu)
|
rs796052433
|
|
NM_005670.4(EPM2A):c.784G>A (p.Val262Met)
|
rs1582913143
|
|
NM_005670.4(EPM2A):c.790G>A (p.Val264Met)
|
|
|
NM_005670.4(EPM2A):c.797G>C (p.Cys266Ser)
|
rs778069029
|
|
NM_005670.4(EPM2A):c.800A>G (p.Asn267Ser)
|
rs1220880720
|
|
NM_005670.4(EPM2A):c.82G>A (p.Glu28Lys)
|
rs1776816199
|
|
NM_005670.4(EPM2A):c.841C>T (p.Leu281Phe)
|
rs367551823
|
|
NM_005670.4(EPM2A):c.848A>G (p.Tyr283Cys)
|
rs897601301
|
|
NM_005670.4(EPM2A):c.86T>C (p.Leu29Pro)
|
rs2128649883
|
|
NM_005670.4(EPM2A):c.874G>T (p.Val292Leu)
|
|
|
NM_005670.4(EPM2A):c.901C>A (p.Pro301Thr)
|
rs1050606699
|
|
NM_005670.4(EPM2A):c.902C>T (p.Pro301Leu)
|
rs796052428
|
|
NM_005670.4(EPM2A):c.911A>G (p.Tyr304Cys)
|
|
|
NM_005670.4(EPM2A):c.92G>A (p.Arg31His)
|
rs1562535536
|
|
NM_005670.4(EPM2A):c.94T>A (p.Trp32Arg)
|
rs104893955
|
|
NM_005670.4(EPM2A):c.957G>C (p.Gln319His)
|
|
|
NM_005670.4(EPM2A):c.962T>G (p.Phe321Cys)
|
rs772620616
|
|
NM_005670.4(EPM2A):c.977C>T (p.Ser326Phe)
|
rs1404589826
|
|
NM_005670.4(EPM2A):c.979T>C (p.Ser327Pro)
|
rs768781694
|
|
NM_005670.4(EPM2A):c.981T>G (p.Ser327=)
|
rs2128555915
|
|
NM_005670.4(EPM2A):c.994_*12del (p.Ter332del)
|
|
|