NM_001080442.3(SLC38A8):c.1162+262T>C
|
rs9927180
|
0.65876
|
NM_001080442.3(SLC38A8):c.388+271T>C
|
rs8052935
|
0.62613
|
NM_001080442.3(SLC38A8):c.632+265T>A
|
rs872942
|
0.50511
|
NC_000016.10:g.84009524T>C
|
rs6563992
|
0.49071
|
NM_001080442.3(SLC38A8):c.531-220_531-209del
|
rs757744080
|
0.43437
|
NM_001080442.3(SLC38A8):c.190-5C>T
|
rs1876962
|
0.38973
|
NM_001080442.3(SLC38A8):c.388+69G>T
|
rs8057543
|
0.38524
|
NM_001080442.3(SLC38A8):c.190-9T>G
|
rs1876960
|
0.38504
|
NM_001080442.3(SLC38A8):c.1214+194A>G
|
rs11149615
|
0.37106
|
NM_001080442.3(SLC38A8):c.1214+174T>C
|
rs11864037
|
0.32533
|
NM_001080442.3(SLC38A8):c.1214+107G>A
|
rs11864095
|
0.32075
|
NM_001080442.3(SLC38A8):c.805+53_805+54del
|
rs5818479
|
0.31747
|
NM_001080442.3(SLC38A8):c.633-264C>T
|
rs4782578
|
0.28287
|
NM_001080442.3(SLC38A8):c.*9T>C
|
rs7196330
|
0.27235
|
NM_001080442.3(SLC38A8):c.691-245C>T
|
rs2055844
|
0.20751
|
NM_001080442.3(SLC38A8):c.633-59C>T
|
rs11863267
|
0.10207
|
NM_001080442.3(SLC38A8):c.459G>A (p.Leu153=)
|
rs57576928
|
0.08939
|
NM_001080442.3(SLC38A8):c.633-63C>G
|
rs61432810
|
0.06943
|
NM_001080442.3(SLC38A8):c.1068C>T (p.Thr356=)
|
rs13334006
|
0.05677
|
NM_001080442.3(SLC38A8):c.1077C>T (p.Leu359=)
|
rs77876966
|
0.04854
|
NM_001080442.3(SLC38A8):c.743C>G (p.Ser248Cys)
|
rs11861325
|
0.03447
|
NM_001080442.3(SLC38A8):c.1280C>T (p.Thr427Met)
|
rs114304006
|
0.01096
|
NM_001080442.3(SLC38A8):c.273G>A (p.Val91=)
|
rs142779989
|
0.01071
|
NM_001080442.3(SLC38A8):c.190-8C>T
|
rs1876961
|
0.00719
|
NM_001080442.3(SLC38A8):c.510C>A (p.Ile170=)
|
rs142587413
|
0.00495
|
NM_001080442.3(SLC38A8):c.961A>T (p.Met321Leu)
|
rs144753514
|
0.00354
|
NM_001080442.3(SLC38A8):c.669C>T (p.Pro223=)
|
rs78965848
|
0.00322
|
NM_001080442.3(SLC38A8):c.628C>G (p.Leu210Val)
|
rs150844985
|
0.00321
|
NM_001080442.3(SLC38A8):c.189G>A (p.Leu63=)
|
rs148467048
|
0.00297
|
NM_001080442.3(SLC38A8):c.1074G>A (p.Thr358=)
|
rs143797848
|
0.00279
|
NM_001080442.3(SLC38A8):c.14C>T (p.Thr5Ile)
|
rs73254348
|
0.00224
|
NM_001080442.3(SLC38A8):c.1027G>C (p.Gly343Arg)
|
rs113733057
|
0.00163
|
NM_001080442.3(SLC38A8):c.159C>T (p.Gly53=)
|
rs147597105
|
0.00153
|
NM_001080442.3(SLC38A8):c.530+15G>C
|
rs201016030
|
0.00103
|
NM_001080442.3(SLC38A8):c.1291G>A (p.Val431Ile)
|
rs144862027
|
0.00093
|
NM_001080442.3(SLC38A8):c.678C>T (p.Cys226=)
|
rs137921368
|
0.00090
|
NM_001080442.3(SLC38A8):c.922A>G (p.Thr308Ala)
|
rs142821762
|
0.00051
|
NM_001080442.3(SLC38A8):c.1205C>T (p.Pro402Leu)
|
rs201194139
|
0.00039
|
NM_001080442.3(SLC38A8):c.327C>T (p.Leu109=)
|
rs146103798
|
0.00038
|
NM_001080442.3(SLC38A8):c.780C>T (p.Ala260=)
|
rs150110519
|
0.00038
|
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala)
|
rs139373929
|
0.00024
|
NM_001080442.3(SLC38A8):c.662T>A (p.Val221Asp)
|
rs191193863
|
0.00021
|
NM_001080442.3(SLC38A8):c.389-9C>G
|
rs376444481
|
0.00020
|
NM_001080442.3(SLC38A8):c.388+5G>A
|
rs760391436
|
0.00014
|
NM_001080442.3(SLC38A8):c.1107C>T (p.Ser369=)
|
rs61742702
|
0.00013
|
NM_001080442.3(SLC38A8):c.487C>T (p.Pro163Ser)
|
rs140156403
|
0.00011
|
NM_001080442.3(SLC38A8):c.1008C>T (p.Ser336=)
|
rs372008597
|
0.00006
|
NM_001080442.3(SLC38A8):c.617C>G (p.Ser206Cys)
|
rs139291507
|
0.00006
|
NM_001080442.3(SLC38A8):c.697G>A (p.Glu233Lys)
|
rs372929441
|
0.00006
|
NM_001080442.3(SLC38A8):c.1119C>T (p.Ser373=)
|
rs151235264
|
0.00004
|
NM_001080442.3(SLC38A8):c.1215-10C>T
|
rs1353034146
|
0.00004
|
NM_001080442.3(SLC38A8):c.425C>T (p.Pro142Leu)
|
rs201354803
|
0.00004
|
NM_001080442.3(SLC38A8):c.264C>G (p.Tyr88Ter)
|
rs761388176
|
0.00003
|
NM_001080442.3(SLC38A8):c.849C>T (p.Asp283=)
|
rs749686942
|
0.00003
|
NM_001080442.3(SLC38A8):c.1181C>T (p.Ala394Val)
|
rs746158836
|
0.00002
|
NM_001080442.3(SLC38A8):c.633-5T>G
|
rs778342318
|
0.00002
|
NM_001080442.3(SLC38A8):c.803C>T (p.Thr268Met)
|
rs140852462
|
0.00002
|
NM_001080442.3(SLC38A8):c.445C>T (p.Gln149Ter)
|
rs146899328
|
0.00001
|
NM_001080442.3(SLC38A8):c.598C>T (p.Gln200Ter)
|
rs149592537
|
0.00001
|
NM_001080442.3(SLC38A8):c.691-9G>A
|
rs369721789
|
0.00001
|
NC_000016.9:g.(?_84043389)_(84043502_?)del
|
|
|
NC_000016.9:g.(?_84043389)_(84056514_?)del
|
|
|
NC_000016.9:g.(?_84043389)_(84067094_?)del
|
|
|
NC_000016.9:g.(?_84046586)_(84050912_?)dup
|
|
|
NC_000016.9:g.(?_84046586)_(84056514_?)del
|
|
|
NC_000016.9:g.(?_84046586)_(84070525_?)del
|
|
|
NC_000016.9:g.(?_84050104)_(84050912_?)del
|
|
|
NC_000016.9:g.(?_84056360)_(84056514_?)del
|
|
|
NC_000016.9:g.(?_84056360)_(84075762_?)del
|
|
|
NC_000016.9:g.(?_84063079)_(84075762_?)del
|
|
|
NC_000016.9:g.(?_84065452)_(84067094_?)del
|
|
|
NC_000016.9:g.(?_84066913)_(84075762_?)del
|
|
|
NC_000016.9:g.(?_84070287)_(84075762_?)del
|
|
|
NC_000016.9:g.(?_84075554)_(84075762_?)del
|
|
|
NM_001080442.3(SLC38A8):c.1002G>T (p.Gly334=)
|
|
|
NM_001080442.3(SLC38A8):c.1002del (p.Ser336fs)
|
rs587777255
|
|
NM_001080442.3(SLC38A8):c.1003C>T (p.Pro335Ser)
|
|
|
NM_001080442.3(SLC38A8):c.1011C>T (p.Ala337=)
|
|
|
NM_001080442.3(SLC38A8):c.1012C>T (p.Leu338=)
|
|
|
NM_001080442.3(SLC38A8):c.1014G>A (p.Leu338=)
|
|
|
NM_001080442.3(SLC38A8):c.1017C>T (p.Ala339=)
|
|
|
NM_001080442.3(SLC38A8):c.1018G>A (p.Asp340Asn)
|
|
|
NM_001080442.3(SLC38A8):c.1020C>T (p.Asp340=)
|
|
|
NM_001080442.3(SLC38A8):c.1023C>T (p.Pro341=)
|
|
|
NM_001080442.3(SLC38A8):c.1032G>A (p.Leu344=)
|
|
|
NM_001080442.3(SLC38A8):c.1038C>A (p.Val346=)
|
|
|
NM_001080442.3(SLC38A8):c.1041G>T (p.Arg347=)
|
|
|
NM_001080442.3(SLC38A8):c.1047G>A (p.Pro349=)
|
|
|
NM_001080442.3(SLC38A8):c.1053C>T (p.Thr351=)
|
|
|
NM_001080442.3(SLC38A8):c.1057C>T (p.Leu353=)
|
|
|
NM_001080442.3(SLC38A8):c.1059G>A (p.Leu353=)
|
|
|
NM_001080442.3(SLC38A8):c.1059G>T (p.Leu353=)
|
|
|
NM_001080442.3(SLC38A8):c.1067C>A (p.Thr356Asn)
|
|
|
NM_001080442.3(SLC38A8):c.1071G>C (p.Val357=)
|
|
|
NM_001080442.3(SLC38A8):c.1074G>T (p.Thr358=)
|
|
|
NM_001080442.3(SLC38A8):c.1077C>A (p.Leu359=)
|
|
|
NM_001080442.3(SLC38A8):c.1077C>G (p.Leu359=)
|
|
|
NM_001080442.3(SLC38A8):c.1086G>A (p.Ala362=)
|
|
|
NM_001080442.3(SLC38A8):c.1087C>T (p.Leu363=)
|
|
|
NM_001080442.3(SLC38A8):c.1089G>A (p.Leu363=)
|
|
|
NM_001080442.3(SLC38A8):c.108C>G (p.Ser36=)
|
|
|
NM_001080442.3(SLC38A8):c.108C>T (p.Ser36=)
|
|
|
NM_001080442.3(SLC38A8):c.1110G>A (p.Glu370=)
|
|
|
NM_001080442.3(SLC38A8):c.1113C>T (p.Ile371=)
|
rs113073498
|
|
NM_001080442.3(SLC38A8):c.1116C>T (p.Val372=)
|
|
|
NM_001080442.3(SLC38A8):c.111G>A (p.Ala37=)
|
|
|
NM_001080442.3(SLC38A8):c.111G>C (p.Ala37=)
|
|
|
NM_001080442.3(SLC38A8):c.1125C>A (p.Ile375=)
|
|
|
NM_001080442.3(SLC38A8):c.1125C>T (p.Ile375=)
|
|
|
NM_001080442.3(SLC38A8):c.1128A>G (p.Gly376=)
|
|
|
NM_001080442.3(SLC38A8):c.1131C>A (p.Gly377=)
|
|
|
NM_001080442.3(SLC38A8):c.1140C>T (p.Ser380=)
|
|
|
NM_001080442.3(SLC38A8):c.1143C>T (p.Phe381=)
|
|
|
NM_001080442.3(SLC38A8):c.1152C>T (p.Phe384=)
|
|
|
NM_001080442.3(SLC38A8):c.1155C>A (p.Ile385=)
|
|
|
NM_001080442.3(SLC38A8):c.1158C>T (p.Phe386=)
|
|
|
NM_001080442.3(SLC38A8):c.1162+10C>G
|
|
|
NM_001080442.3(SLC38A8):c.1162+10del
|
|
|
NM_001080442.3(SLC38A8):c.1162+12G>C
|
|
|
NM_001080442.3(SLC38A8):c.1162+12G>T
|
|
|
NM_001080442.3(SLC38A8):c.1162+13C>T
|
|
|
NM_001080442.3(SLC38A8):c.1162+16T>A
|
|
|
NM_001080442.3(SLC38A8):c.1162+215A>C
|
rs9938112
|
|
NM_001080442.3(SLC38A8):c.1162+6dup
|
|
|
NM_001080442.3(SLC38A8):c.1162+7C>A
|
|
|
NM_001080442.3(SLC38A8):c.1162+7C>T
|
|
|
NM_001080442.3(SLC38A8):c.1162+8C>T
|
rs372917153
|
|
NM_001080442.3(SLC38A8):c.1163-11C>G
|
|
|
NM_001080442.3(SLC38A8):c.1163-11C>T
|
|
|
NM_001080442.3(SLC38A8):c.1163-12T>C
|
|
|
NM_001080442.3(SLC38A8):c.1163-13G>C
|
|
|
NM_001080442.3(SLC38A8):c.1163-13G>T
|
|
|
NM_001080442.3(SLC38A8):c.1163-15C>G
|
|
|
NM_001080442.3(SLC38A8):c.1163-15C>T
|
|
|
NM_001080442.3(SLC38A8):c.1163-15del
|
|
|
NM_001080442.3(SLC38A8):c.1163-16C>T
|
|
|
NM_001080442.3(SLC38A8):c.1163-17C>G
|
|
|
NM_001080442.3(SLC38A8):c.1163-17C>T
|
|
|
NM_001080442.3(SLC38A8):c.1163-19G>T
|
|
|
NM_001080442.3(SLC38A8):c.1163-20T>C
|
|
|
NM_001080442.3(SLC38A8):c.1163-2A>T
|
|
|
NM_001080442.3(SLC38A8):c.1163-5T>C
|
|
|
NM_001080442.3(SLC38A8):c.1163-9T>A
|
|
|
NM_001080442.3(SLC38A8):c.116G>T (p.Gly39Val)
|
|
|
NM_001080442.3(SLC38A8):c.1170C>T (p.Cys390=)
|
|
|
NM_001080442.3(SLC38A8):c.1176C>T (p.Ile392=)
|
|
|
NM_001080442.3(SLC38A8):c.1182A>T (p.Ala394=)
|
|
|
NM_001080442.3(SLC38A8):c.1191C>G (p.Val397=)
|
|
|
NM_001080442.3(SLC38A8):c.1191C>T (p.Val397=)
|
|
|
NM_001080442.3(SLC38A8):c.1194G>A (p.Glu398=)
|
|
|
NM_001080442.3(SLC38A8):c.11del (p.Gln4fs)
|
|
|
NM_001080442.3(SLC38A8):c.120T>C (p.Ala40=)
|
|
|
NM_001080442.3(SLC38A8):c.1212C>G (p.Val404=)
|
|
|
NM_001080442.3(SLC38A8):c.1214+10C>G
|
|
|
NM_001080442.3(SLC38A8):c.1214+116C>T
|
rs11864162
|
|
NM_001080442.3(SLC38A8):c.1214+11C>T
|
|
|
NM_001080442.3(SLC38A8):c.1214+12T>C
|
|
|
NM_001080442.3(SLC38A8):c.1214+15G>C
|
|
|
NM_001080442.3(SLC38A8):c.1214+16A>G
|
|
|
NM_001080442.3(SLC38A8):c.1214+204C>G
|
rs11864124
|
|
NM_001080442.3(SLC38A8):c.1214+2T>G
|
rs2084972069
|
|
NM_001080442.3(SLC38A8):c.1214+9C>A
|
|
|
NM_001080442.3(SLC38A8):c.1214+9C>T
|
|
|
NM_001080442.3(SLC38A8):c.1215-10C>A
|
|
|
NM_001080442.3(SLC38A8):c.1215-10C>G
|
|
|
NM_001080442.3(SLC38A8):c.1215-13A>G
|
|
|
NM_001080442.3(SLC38A8):c.1215-15T>A
|
|
|
NM_001080442.3(SLC38A8):c.1215-16T>C
|
|
|
NM_001080442.3(SLC38A8):c.1215-17G>T
|
|
|
NM_001080442.3(SLC38A8):c.1215-6dup
|
|
|
NM_001080442.3(SLC38A8):c.1215-8C>T
|
|
|
NM_001080442.3(SLC38A8):c.1218C>T (p.Cys406=)
|
|
|
NM_001080442.3(SLC38A8):c.1222C>T (p.Leu408=)
|
|
|
NM_001080442.3(SLC38A8):c.1227G>A (p.Glu409=)
|
|
|
NM_001080442.3(SLC38A8):c.123C>G (p.Gly41=)
|
|
|
NM_001080442.3(SLC38A8):c.123C>T (p.Gly41=)
|
|
|
NM_001080442.3(SLC38A8):c.1242C>G (p.Val414=)
|
|
|
NM_001080442.3(SLC38A8):c.1243T>G (p.Ser415Ala)
|
rs1257010761
|
|
NM_001080442.3(SLC38A8):c.1248G>A (p.Val416=)
|
|
|
NM_001080442.3(SLC38A8):c.1249C>T (p.Leu417=)
|
|
|
NM_001080442.3(SLC38A8):c.124C>T (p.Leu42=)
|
|
|
NM_001080442.3(SLC38A8):c.1251G>A (p.Leu417=)
|
|
|
NM_001080442.3(SLC38A8):c.1254C>T (p.Val418=)
|
|
|
NM_001080442.3(SLC38A8):c.1256G>T (p.Gly419Val)
|
rs2084934040
|
|
NM_001080442.3(SLC38A8):c.1260C>G (p.Thr420=)
|
|
|
NM_001080442.3(SLC38A8):c.1278C>T (p.Ser426=)
|
|
|
NM_001080442.3(SLC38A8):c.1281G>A (p.Thr427=)
|
|
|
NM_001080442.3(SLC38A8):c.1284G>A (p.Ala428=)
|
|
|
NM_001080442.3(SLC38A8):c.1284G>C (p.Ala428=)
|
|
|
NM_001080442.3(SLC38A8):c.1289C>A (p.Ala430Glu)
|
|
|
NM_001080442.3(SLC38A8):c.1290G>A (p.Ala430=)
|
|
|
NM_001080442.3(SLC38A8):c.1290G>T (p.Ala430=)
|
|
|
NM_001080442.3(SLC38A8):c.1293C>A (p.Val431=)
|
|
|
NM_001080442.3(SLC38A8):c.1293C>T (p.Val431=)
|
|
|
NM_001080442.3(SLC38A8):c.1305C>G (p.Phe435Leu)
|
rs111765632
|
|
NM_001080442.3(SLC38A8):c.135C>T (p.Phe45=)
|
|
|
NM_001080442.3(SLC38A8):c.138C>T (p.Pro46=)
|
|
|
NM_001080442.3(SLC38A8):c.141G>A (p.Trp47Ter)
|
|
|
NM_001080442.3(SLC38A8):c.144C>G (p.Ala48=)
|
|
|
NM_001080442.3(SLC38A8):c.150C>G (p.Ser50=)
|
|
|
NM_001080442.3(SLC38A8):c.156G>A (p.Ala52=)
|
|
|
NM_001080442.3(SLC38A8):c.156G>C (p.Ala52=)
|
|
|
NM_001080442.3(SLC38A8):c.160G>T (p.Gly54Ter)
|
|
|
NM_001080442.3(SLC38A8):c.165G>T (p.Val55=)
|
|
|
NM_001080442.3(SLC38A8):c.168C>T (p.Val56=)
|
|
|
NM_001080442.3(SLC38A8):c.170C>T (p.Pro57Leu)
|
|
|
NM_001080442.3(SLC38A8):c.171T>C (p.Pro57=)
|
|
|
NM_001080442.3(SLC38A8):c.174C>G (p.Ala58=)
|
|
|
NM_001080442.3(SLC38A8):c.178C>T (p.Leu60=)
|
|
|
NM_001080442.3(SLC38A8):c.183G>C (p.Val61=)
|
|
|
NM_001080442.3(SLC38A8):c.186G>A (p.Glu62=)
|
|
|
NM_001080442.3(SLC38A8):c.189+10C>T
|
|
|
NM_001080442.3(SLC38A8):c.189+11G>A
|
|
|
NM_001080442.3(SLC38A8):c.189+11G>C
|
|
|
NM_001080442.3(SLC38A8):c.189+11G>T
|
rs1105355
|
|
NM_001080442.3(SLC38A8):c.189+12G>T
|
|
|
NM_001080442.3(SLC38A8):c.189+13G>A
|
|
|
NM_001080442.3(SLC38A8):c.189+13G>C
|
|
|
NM_001080442.3(SLC38A8):c.189+16G>C
|
|
|
NM_001080442.3(SLC38A8):c.189+18G>A
|
|
|
NM_001080442.3(SLC38A8):c.189+1G>A
|
|
|
NM_001080442.3(SLC38A8):c.189+7C>G
|
|
|
NM_001080442.3(SLC38A8):c.189+7C>T
|
|
|
NM_001080442.3(SLC38A8):c.190-11C>T
|
|
|
NM_001080442.3(SLC38A8):c.190-123T>C
|
rs2326159
|
|
NM_001080442.3(SLC38A8):c.190-12C>G
|
|
|
NM_001080442.3(SLC38A8):c.190-12C>T
|
|
|
NM_001080442.3(SLC38A8):c.190-17C>A
|
|
|
NM_001080442.3(SLC38A8):c.190-17C>G
|
|
|
NM_001080442.3(SLC38A8):c.190-17C>T
|
|
|
NM_001080442.3(SLC38A8):c.190-18C>A
|
|
|
NM_001080442.3(SLC38A8):c.190-18C>T
|
|
|
NM_001080442.3(SLC38A8):c.190-4G>A
|
|
|
NM_001080442.3(SLC38A8):c.190-4G>C
|
|
|
NM_001080442.3(SLC38A8):c.190-4G>T
|
|
|
NM_001080442.3(SLC38A8):c.190-6C>G
|
|
|
NM_001080442.3(SLC38A8):c.192C>A (p.Val64=)
|
rs755211190
|
|
NM_001080442.3(SLC38A8):c.192C>G (p.Val64=)
|
|
|
NM_001080442.3(SLC38A8):c.192C>T (p.Val64=)
|
|
|
NM_001080442.3(SLC38A8):c.195G>A (p.Ser65=)
|
|
|
NM_001080442.3(SLC38A8):c.195G>C (p.Ser65=)
|
rs1317524
|
|
NM_001080442.3(SLC38A8):c.196T>C (p.Leu66=)
|
|
|
NM_001080442.3(SLC38A8):c.198G>A (p.Leu66=)
|
|
|
NM_001080442.3(SLC38A8):c.201C>G (p.Val67=)
|
|
|
NM_001080442.3(SLC38A8):c.201C>T (p.Val67=)
|
|
|
NM_001080442.3(SLC38A8):c.204C>T (p.Phe68=)
|
|
|
NM_001080442.3(SLC38A8):c.207G>C (p.Leu69=)
|
|
|
NM_001080442.3(SLC38A8):c.210C>T (p.Ile70=)
|
|
|
NM_001080442.3(SLC38A8):c.213C>T (p.Ser71=)
|
|
|
NM_001080442.3(SLC38A8):c.214G>A (p.Gly72Arg)
|
|
|
NM_001080442.3(SLC38A8):c.216G>A (p.Gly72=)
|
|
|
NM_001080442.3(SLC38A8):c.216G>T (p.Gly72=)
|
|
|
NM_001080442.3(SLC38A8):c.219G>A (p.Leu73=)
|
|
|
NM_001080442.3(SLC38A8):c.219G>T (p.Leu73=)
|
|
|
NM_001080442.3(SLC38A8):c.222C>T (p.Val74=)
|
|
|
NM_001080442.3(SLC38A8):c.226C>T (p.Leu76=)
|
|
|
NM_001080442.3(SLC38A8):c.228G>A (p.Leu76=)
|
|
|
NM_001080442.3(SLC38A8):c.228G>T (p.Leu76=)
|
|
|
NM_001080442.3(SLC38A8):c.230G>A (p.Gly77Asp)
|
|
|
NM_001080442.3(SLC38A8):c.231C>G (p.Gly77=)
|
|
|
NM_001080442.3(SLC38A8):c.258C>A (p.Ala86=)
|
|
|
NM_001080442.3(SLC38A8):c.261C>T (p.Thr87=)
|
|
|
NM_001080442.3(SLC38A8):c.263del (p.Tyr88fs)
|
|
|
NM_001080442.3(SLC38A8):c.264C>T (p.Tyr88=)
|
|
|
NM_001080442.3(SLC38A8):c.267G>A (p.Gln89=)
|
|
|
NM_001080442.3(SLC38A8):c.269G>T (p.Gly90Val)
|
|
|
NM_001080442.3(SLC38A8):c.272_273dup (p.Val92fs)
|
|
|
NM_001080442.3(SLC38A8):c.273G>C (p.Val91=)
|
|
|
NM_001080442.3(SLC38A8):c.276C>T (p.Val92=)
|
|
|
NM_001080442.3(SLC38A8):c.27G>A (p.Arg9=)
|
|
|
NM_001080442.3(SLC38A8):c.282G>A (p.Gly94=)
|
|
|
NM_001080442.3(SLC38A8):c.282G>T (p.Gly94=)
|
|
|
NM_001080442.3(SLC38A8):c.283C>T (p.Leu95=)
|
|
|
NM_001080442.3(SLC38A8):c.285G>T (p.Leu95=)
|
|
|
NM_001080442.3(SLC38A8):c.291C>T (p.Gly97=)
|
|
|
NM_001080442.3(SLC38A8):c.297C>T (p.Ala99=)
|
|
|
NM_001080442.3(SLC38A8):c.305A>G (p.Lys102Arg)
|
|
|
NM_001080442.3(SLC38A8):c.307C>T (p.Leu103=)
|
|
|
NM_001080442.3(SLC38A8):c.30C>T (p.Gly10=)
|
|
|
NM_001080442.3(SLC38A8):c.315G>A (p.Glu105=)
|
|
|
NM_001080442.3(SLC38A8):c.318C>G (p.Ala106=)
|
|
|
NM_001080442.3(SLC38A8):c.319T>G (p.Cys107Gly)
|
|
|
NM_001080442.3(SLC38A8):c.323dup (p.Leu109fs)
|
|
|
NM_001080442.3(SLC38A8):c.339C>T (p.Leu113=)
|
|
|
NM_001080442.3(SLC38A8):c.348C>G (p.Ser116=)
|
|
|
NM_001080442.3(SLC38A8):c.348C>T (p.Ser116=)
|
|
|
NM_001080442.3(SLC38A8):c.357C>T (p.Phe119=)
|
|
|
NM_001080442.3(SLC38A8):c.359dup (p.Arg121fs)
|
|
|
NM_001080442.3(SLC38A8):c.360C>T (p.Leu120=)
|
|
|
NM_001080442.3(SLC38A8):c.366G>A (p.Val122=)
|
|
|
NM_001080442.3(SLC38A8):c.366G>T (p.Val122=)
|
|
|
NM_001080442.3(SLC38A8):c.369C>T (p.Ile123=)
|
|
|
NM_001080442.3(SLC38A8):c.370G>A (p.Gly124Arg)
|
|
|
NM_001080442.3(SLC38A8):c.375C>T (p.Asp125=)
|
|
|
NM_001080442.3(SLC38A8):c.376del (p.Gln126fs)
|
|
|
NM_001080442.3(SLC38A8):c.385A>T (p.Lys129Ter)
|
|
|
NM_001080442.3(SLC38A8):c.388+12C>G
|
|
|
NM_001080442.3(SLC38A8):c.388+12C>T
|
rs111631768
|
|
NM_001080442.3(SLC38A8):c.388+13A>G
|
|
|
NM_001080442.3(SLC38A8):c.388+15G>A
|
|
|
NM_001080442.3(SLC38A8):c.388+164G>C
|
rs8053253
|
|
NM_001080442.3(SLC38A8):c.388+16G>T
|
|
|
NM_001080442.3(SLC38A8):c.388+17G>T
|
|
|
NM_001080442.3(SLC38A8):c.388+18A>G
|
|
|
NM_001080442.3(SLC38A8):c.388+19C>T
|
|
|
NM_001080442.3(SLC38A8):c.388+1G>A
|
|
|
NM_001080442.3(SLC38A8):c.388+1G>T
|
rs149436446
|
|
NM_001080442.3(SLC38A8):c.388+254G>C
|
rs8053088
|
|
NM_001080442.3(SLC38A8):c.388+4A>G
|
|
|
NM_001080442.3(SLC38A8):c.388+7A>T
|
|
|
NM_001080442.3(SLC38A8):c.388+8C>G
|
|
|
NM_001080442.3(SLC38A8):c.388+9C>T
|
|
|
NM_001080442.3(SLC38A8):c.389-13G>A
|
|
|
NM_001080442.3(SLC38A8):c.389-14C>T
|
|
|
NM_001080442.3(SLC38A8):c.389-16C>T
|
|
|
NM_001080442.3(SLC38A8):c.389-19C>G
|
|
|
NM_001080442.3(SLC38A8):c.389-1G>A
|
|
|
NM_001080442.3(SLC38A8):c.396C>T (p.Asp132=)
|
|
|
NM_001080442.3(SLC38A8):c.402C>T (p.Leu134=)
|
|
|
NM_001080442.3(SLC38A8):c.403dup (p.Leu135fs)
|
|
|
NM_001080442.3(SLC38A8):c.408T>G (p.Ser136=)
|
|
|
NM_001080442.3(SLC38A8):c.414C>A (p.Thr138=)
|
|
|
NM_001080442.3(SLC38A8):c.416C>T (p.Pro139Leu)
|
|
|
NM_001080442.3(SLC38A8):c.417G>A (p.Pro139=)
|
|
|
NM_001080442.3(SLC38A8):c.420C>T (p.Pro140=)
|
|
|
NM_001080442.3(SLC38A8):c.421_424dup (p.Pro142fs)
|
|
|
NM_001080442.3(SLC38A8):c.423C>T (p.Ala141=)
|
|
|
NM_001080442.3(SLC38A8):c.426G>A (p.Pro142=)
|
|
|
NM_001080442.3(SLC38A8):c.427C>T (p.Gln143Ter)
|
|
|
NM_001080442.3(SLC38A8):c.432G>A (p.Pro144=)
|
|
|
NM_001080442.3(SLC38A8):c.434G>A (p.Trp145Ter)
|
|
|
NM_001080442.3(SLC38A8):c.438C>T (p.Tyr146=)
|
|
|
NM_001080442.3(SLC38A8):c.439G>A (p.Ala147Thr)
|
|
|
NM_001080442.3(SLC38A8):c.440C>G (p.Ala147Gly)
|
rs56802364
|
|
NM_001080442.3(SLC38A8):c.444C>T (p.Asp148=)
|
|
|
NM_001080442.3(SLC38A8):c.448C>T (p.Arg150Cys)
|
|
|
NM_001080442.3(SLC38A8):c.450C>T (p.Arg150=)
|
|
|
NM_001080442.3(SLC38A8):c.453C>T (p.Phe151=)
|
|
|
NM_001080442.3(SLC38A8):c.456C>G (p.Thr152=)
|
|
|
NM_001080442.3(SLC38A8):c.457C>T (p.Leu153=)
|
|
|
NM_001080442.3(SLC38A8):c.459G>T (p.Leu153=)
|
|
|
NM_001080442.3(SLC38A8):c.462C>A (p.Pro154=)
|
|
|
NM_001080442.3(SLC38A8):c.463C>T (p.Leu155=)
|
|
|
NM_001080442.3(SLC38A8):c.465G>T (p.Leu155=)
|
|
|
NM_001080442.3(SLC38A8):c.468C>G (p.Leu156=)
|
|
|
NM_001080442.3(SLC38A8):c.471C>A (p.Ser157=)
|
|
|
NM_001080442.3(SLC38A8):c.471C>T (p.Ser157=)
|
|
|
NM_001080442.3(SLC38A8):c.474G>A (p.Val158=)
|
|
|
NM_001080442.3(SLC38A8):c.475C>T (p.Leu159=)
|
|
|
NM_001080442.3(SLC38A8):c.477G>C (p.Leu159=)
|
|
|
NM_001080442.3(SLC38A8):c.480C>T (p.Val160=)
|
|
|
NM_001080442.3(SLC38A8):c.484C>T (p.Leu162=)
|
|
|
NM_001080442.3(SLC38A8):c.486G>A (p.Leu162=)
|
|
|
NM_001080442.3(SLC38A8):c.492G>A (p.Leu164=)
|
|
|
NM_001080442.3(SLC38A8):c.495dup (p.Ala166fs)
|
|
|
NM_001080442.3(SLC38A8):c.501G>A (p.Pro167=)
|
|
|
NM_001080442.3(SLC38A8):c.501G>T (p.Pro167=)
|
|
|
NM_001080442.3(SLC38A8):c.502C>A (p.Arg168=)
|
|
|
NM_001080442.3(SLC38A8):c.510C>T (p.Ile170=)
|
|
|
NM_001080442.3(SLC38A8):c.513C>T (p.Ala171=)
|
|
|
NM_001080442.3(SLC38A8):c.522A>G (p.Lys174=)
|
|
|
NM_001080442.3(SLC38A8):c.530+11G>A
|
|
|
NM_001080442.3(SLC38A8):c.530+11G>C
|
|
|
NM_001080442.3(SLC38A8):c.530+11G>T
|
|
|
NM_001080442.3(SLC38A8):c.530+12G>A
|
|
|
NM_001080442.3(SLC38A8):c.530+13A>G
|
|
|
NM_001080442.3(SLC38A8):c.530+16C>G
|
|
|
NM_001080442.3(SLC38A8):c.530+19C>G
|
|
|
NM_001080442.3(SLC38A8):c.530+1G>A
|
|
|
NM_001080442.3(SLC38A8):c.530+2T>C
|
|
|
NM_001080442.3(SLC38A8):c.530+7G>C
|
|
|
NM_001080442.3(SLC38A8):c.530+9T>G
|
|
|
NM_001080442.3(SLC38A8):c.531-137T>C
|
rs907043
|
|
NM_001080442.3(SLC38A8):c.531-13G>A
|
rs11865628
|
|
NM_001080442.3(SLC38A8):c.531-13G>T
|
|
|
NM_001080442.3(SLC38A8):c.531-147C>T
|
rs907044
|
|
NM_001080442.3(SLC38A8):c.531-14G>A
|
|
|
NM_001080442.3(SLC38A8):c.531-14G>C
|
|
|
NM_001080442.3(SLC38A8):c.531-14G>T
|
|
|
NM_001080442.3(SLC38A8):c.531-15C>G
|
|
|
NM_001080442.3(SLC38A8):c.531-15C>T
|
|
|
NM_001080442.3(SLC38A8):c.531-19C>T
|
|
|
NM_001080442.3(SLC38A8):c.531-232CAA[4]
|
rs3082418
|
|
NM_001080442.3(SLC38A8):c.531-7G>A
|
|
|
NM_001080442.3(SLC38A8):c.531-7G>T
|
|
|
NM_001080442.3(SLC38A8):c.534C>T (p.Ile178=)
|
|
|
NM_001080442.3(SLC38A8):c.535C>T (p.Leu179=)
|
|
|
NM_001080442.3(SLC38A8):c.538G>C (p.Gly180Arg)
|
|
|
NM_001080442.3(SLC38A8):c.539G>A (p.Gly180Asp)
|
|
|
NM_001080442.3(SLC38A8):c.540C>T (p.Gly180=)
|
|
|
NM_001080442.3(SLC38A8):c.546G>A (p.Leu182=)
|
|
|
NM_001080442.3(SLC38A8):c.546G>C (p.Leu182=)
|
|
|
NM_001080442.3(SLC38A8):c.54C>T (p.Ala18=)
|
|
|
NM_001080442.3(SLC38A8):c.558C>G (p.Tyr186Ter)
|
|
|
NM_001080442.3(SLC38A8):c.562del (p.Ala188fs)
|
|
|
NM_001080442.3(SLC38A8):c.570C>G (p.Val190=)
|
|
|
NM_001080442.3(SLC38A8):c.576C>T (p.Thr192=)
|
|
|
NM_001080442.3(SLC38A8):c.579G>A (p.Val193=)
|
|
|
NM_001080442.3(SLC38A8):c.579G>T (p.Val193=)
|
|
|
NM_001080442.3(SLC38A8):c.57G>A (p.Thr19=)
|
|
|
NM_001080442.3(SLC38A8):c.57G>T (p.Thr19=)
|
|
|
NM_001080442.3(SLC38A8):c.585C>G (p.Tyr195Ter)
|
|
|
NM_001080442.3(SLC38A8):c.589C>T (p.Leu197Phe)
|
|
|
NM_001080442.3(SLC38A8):c.58del (p.Ala20fs)
|
|
|
NM_001080442.3(SLC38A8):c.597C>T (p.Pro199=)
|
|
|
NM_001080442.3(SLC38A8):c.603C>T (p.Gly201=)
|
|
|
NM_001080442.3(SLC38A8):c.612T>G (p.Arg204=)
|
|
|
NM_001080442.3(SLC38A8):c.618C>A (p.Ser206=)
|
|
|
NM_001080442.3(SLC38A8):c.619C>T (p.His207Tyr)
|
|
|
NM_001080442.3(SLC38A8):c.624T>C (p.Pro208=)
|
|
|
NM_001080442.3(SLC38A8):c.632+12G>C
|
|
|
NM_001080442.3(SLC38A8):c.632+13G>C
|
|
|
NM_001080442.3(SLC38A8):c.632+13G>T
|
|
|
NM_001080442.3(SLC38A8):c.632+16C>T
|
|
|
NM_001080442.3(SLC38A8):c.632+18G>A
|
|
|
NM_001080442.3(SLC38A8):c.632+7C>G
|
|
|
NM_001080442.3(SLC38A8):c.632+7C>T
|
|
|
NM_001080442.3(SLC38A8):c.632+8T>G
|
|
|
NM_001080442.3(SLC38A8):c.633-10C>G
|
|
|
NM_001080442.3(SLC38A8):c.633-15C>T
|
|
|
NM_001080442.3(SLC38A8):c.633-165_633-164insTCCTCT
|
rs56084285
|
|
NM_001080442.3(SLC38A8):c.633-1G>T
|
|
|
NM_001080442.3(SLC38A8):c.633-2A>C
|
|
|
NM_001080442.3(SLC38A8):c.633-5T>C
|
|
|
NM_001080442.3(SLC38A8):c.633-7T>C
|
|
|
NM_001080442.3(SLC38A8):c.633-8G>C
|
|
|
NM_001080442.3(SLC38A8):c.639C>G (p.Ala213=)
|
|
|
NM_001080442.3(SLC38A8):c.642C>T (p.Ser214=)
|
|
|
NM_001080442.3(SLC38A8):c.648C>G (p.Thr216=)
|
|
|
NM_001080442.3(SLC38A8):c.648C>T (p.Thr216=)
|
|
|
NM_001080442.3(SLC38A8):c.659G>C (p.Ser220Thr)
|
rs11862366
|
|
NM_001080442.3(SLC38A8):c.663C>G (p.Val221=)
|
|
|
NM_001080442.3(SLC38A8):c.66C>T (p.Ala22=)
|
|
|
NM_001080442.3(SLC38A8):c.672C>G (p.Thr224=)
|
|
|
NM_001080442.3(SLC38A8):c.672C>T (p.Thr224=)
|
|
|
NM_001080442.3(SLC38A8):c.673A>G (p.Ile225Val)
|
|
|
NM_001080442.3(SLC38A8):c.680T>A (p.Phe227Tyr)
|
|
|
NM_001080442.3(SLC38A8):c.681C>T (p.Phe227=)
|
|
|
NM_001080442.3(SLC38A8):c.684G>A (p.Gly228=)
|
|
|
NM_001080442.3(SLC38A8):c.688C>T (p.Gln230Ter)
|
|
|
NM_001080442.3(SLC38A8):c.690+12A>G
|
|
|
NM_001080442.3(SLC38A8):c.690+16G>C
|
|
|
NM_001080442.3(SLC38A8):c.690+7T>G
|
|
|
NM_001080442.3(SLC38A8):c.691-14C>G
|
|
|
NM_001080442.3(SLC38A8):c.691-16G>A
|
|
|
NM_001080442.3(SLC38A8):c.691-17C>A
|
|
|
NM_001080442.3(SLC38A8):c.691-17C>T
|
|
|
NM_001080442.3(SLC38A8):c.691-19G>A
|
|
|
NM_001080442.3(SLC38A8):c.691-1G>C
|
|
|
NM_001080442.3(SLC38A8):c.691-4A>G
|
|
|
NM_001080442.3(SLC38A8):c.691-7C>T
|
|
|
NM_001080442.3(SLC38A8):c.693T>C (p.Cys231=)
|
|
|
NM_001080442.3(SLC38A8):c.696C>T (p.His232=)
|
|
|
NM_001080442.3(SLC38A8):c.697G>T (p.Glu233Ter)
|
|
|
NM_001080442.3(SLC38A8):c.6G>A (p.Glu2=)
|
|
|
NM_001080442.3(SLC38A8):c.705C>T (p.Ala235=)
|
|
|
NM_001080442.3(SLC38A8):c.708C>G (p.Val236=)
|
|
|
NM_001080442.3(SLC38A8):c.708C>T (p.Val236=)
|
|
|
NM_001080442.3(SLC38A8):c.70C>T (p.Leu24=)
|
|
|
NM_001080442.3(SLC38A8):c.711C>G (p.Ser237=)
|
|
|
NM_001080442.3(SLC38A8):c.711C>T (p.Ser237=)
|
|
|
NM_001080442.3(SLC38A8):c.723C>T (p.Ser241=)
|
|
|
NM_001080442.3(SLC38A8):c.724del (p.Met242fs)
|
|
|
NM_001080442.3(SLC38A8):c.729C>G (p.Arg243=)
|
|
|
NM_001080442.3(SLC38A8):c.729C>T (p.Arg243=)
|
|
|
NM_001080442.3(SLC38A8):c.735G>A (p.Arg245=)
|
|
|
NM_001080442.3(SLC38A8):c.741C>G (p.Leu247=)
|
|
|
NM_001080442.3(SLC38A8):c.741C>T (p.Leu247=)
|
|
|
NM_001080442.3(SLC38A8):c.753C>G (p.Ala251=)
|
|
|
NM_001080442.3(SLC38A8):c.753C>T (p.Ala251=)
|
|
|
NM_001080442.3(SLC38A8):c.756G>C (p.Leu252=)
|
|
|
NM_001080442.3(SLC38A8):c.759G>T (p.Val253=)
|
|
|
NM_001080442.3(SLC38A8):c.75C>T (p.Ser25=)
|
|
|
NM_001080442.3(SLC38A8):c.762T>G (p.Ser254=)
|
rs2151118135
|
|
NM_001080442.3(SLC38A8):c.765G>A (p.Val255=)
|
|
|
NM_001080442.3(SLC38A8):c.768G>A (p.Leu256=)
|
|
|
NM_001080442.3(SLC38A8):c.768G>C (p.Leu256=)
|
|
|
NM_001080442.3(SLC38A8):c.772T>C (p.Leu258=)
|
|
|
NM_001080442.3(SLC38A8):c.774G>A (p.Leu258=)
|
|
|
NM_001080442.3(SLC38A8):c.77C>T (p.Ser26Leu)
|
|
|
NM_001080442.3(SLC38A8):c.783C>T (p.Cys261=)
|
|
|
NM_001080442.3(SLC38A8):c.789C>T (p.Leu263=)
|
|
|
NM_001080442.3(SLC38A8):c.78G>A (p.Ser26=)
|
|
|
NM_001080442.3(SLC38A8):c.792C>A (p.Ile264=)
|
|
|
NM_001080442.3(SLC38A8):c.797C>G (p.Ser266Ter)
|
|
|
NM_001080442.3(SLC38A8):c.798A>G (p.Ser266=)
|
|
|
NM_001080442.3(SLC38A8):c.801G>A (p.Leu267=)
|
|
|
NM_001080442.3(SLC38A8):c.801G>C (p.Leu267=)
|
|
|
NM_001080442.3(SLC38A8):c.804G>A (p.Thr268=)
|
|
|
NM_001080442.3(SLC38A8):c.805+12C>T
|
|
|
NM_001080442.3(SLC38A8):c.805+13C>A
|
|
|
NM_001080442.3(SLC38A8):c.805+15A>T
|
|
|
NM_001080442.3(SLC38A8):c.805+17G>A
|
|
|
NM_001080442.3(SLC38A8):c.805+17G>T
|
|
|
NM_001080442.3(SLC38A8):c.805+18C>T
|
|
|
NM_001080442.3(SLC38A8):c.805+19A>C
|
|
|
NM_001080442.3(SLC38A8):c.805+20C>G
|
|
|
NM_001080442.3(SLC38A8):c.805+20_805+34del
|
|
|
NM_001080442.3(SLC38A8):c.805+2T>C
|
|
|
NM_001080442.3(SLC38A8):c.805+6G>A
|
|
|
NM_001080442.3(SLC38A8):c.805+7C>T
|
|
|
NM_001080442.3(SLC38A8):c.805+8C>T
|
|
|
NM_001080442.3(SLC38A8):c.805+9C>T
|
|
|
NM_001080442.3(SLC38A8):c.806-15C>T
|
|
|
NM_001080442.3(SLC38A8):c.806-16C>G
|
|
|
NM_001080442.3(SLC38A8):c.806-18A>G
|
|
|
NM_001080442.3(SLC38A8):c.806-18A>T
|
|
|
NM_001080442.3(SLC38A8):c.806-19C>A
|
|
|
NM_001080442.3(SLC38A8):c.806-19C>T
|
|
|
NM_001080442.3(SLC38A8):c.806-1G>A
|
|
|
NM_001080442.3(SLC38A8):c.806-1G>T
|
|
|
NM_001080442.3(SLC38A8):c.806-2A>G
|
|
|
NM_001080442.3(SLC38A8):c.806-5T>A
|
|
|
NM_001080442.3(SLC38A8):c.806-6C>G
|
|
|
NM_001080442.3(SLC38A8):c.806-7C>T
|
|
|
NM_001080442.3(SLC38A8):c.806-9C>T
|
|
|
NM_001080442.3(SLC38A8):c.807G>T (p.Gly269=)
|
|
|
NM_001080442.3(SLC38A8):c.808G>A (p.Val270Ile)
|
|
|
NM_001080442.3(SLC38A8):c.810T>G (p.Val270=)
|
|
|
NM_001080442.3(SLC38A8):c.816C>A (p.Gly272=)
|
|
|
NM_001080442.3(SLC38A8):c.816C>T (p.Gly272=)
|
|
|
NM_001080442.3(SLC38A8):c.819C>T (p.Phe273=)
|
|
|
NM_001080442.3(SLC38A8):c.822G>C (p.Leu274=)
|
|
|
NM_001080442.3(SLC38A8):c.837A>G (p.Glu279=)
|
|
|
NM_001080442.3(SLC38A8):c.837del (p.Val280fs)
|
rs756501758
|
|
NM_001080442.3(SLC38A8):c.84C>T (p.Gly28=)
|
|
|
NM_001080442.3(SLC38A8):c.852C>T (p.Val284=)
|
|
|
NM_001080442.3(SLC38A8):c.864C>T (p.Tyr288=)
|
|
|
NM_001080442.3(SLC38A8):c.873T>C (p.Asn291=)
|
|
|
NM_001080442.3(SLC38A8):c.876T>C (p.Asp292=)
|
|
|
NM_001080442.3(SLC38A8):c.885C>T (p.Ile295=)
|
|
|
NM_001080442.3(SLC38A8):c.894C>G (p.Ala298=)
|
|
|
NM_001080442.3(SLC38A8):c.896G>A (p.Arg299Gln)
|
|
|
NM_001080442.3(SLC38A8):c.897G>C (p.Arg299=)
|
|
|
NM_001080442.3(SLC38A8):c.898del (p.Val300fs)
|
|
|
NM_001080442.3(SLC38A8):c.900C>T (p.Val300=)
|
|
|
NM_001080442.3(SLC38A8):c.903T>C (p.Leu301=)
|
|
|
NM_001080442.3(SLC38A8):c.912C>T (p.Val304=)
|
|
|
NM_001080442.3(SLC38A8):c.913T>C (p.Ser305Pro)
|
rs1057521634
|
|
NM_001080442.3(SLC38A8):c.914C>G (p.Ser305Cys)
|
|
|
NM_001080442.3(SLC38A8):c.918C>T (p.Ile306=)
|
|
|
NM_001080442.3(SLC38A8):c.919G>C (p.Val307Leu)
|
rs200651717
|
|
NM_001080442.3(SLC38A8):c.924T>C (p.Thr308=)
|
|
|
NM_001080442.3(SLC38A8):c.930C>A (p.Tyr310Ter)
|
|
|
NM_001080442.3(SLC38A8):c.936C>T (p.Ile312=)
|
|
|
NM_001080442.3(SLC38A8):c.939G>A (p.Val313=)
|
|
|
NM_001080442.3(SLC38A8):c.93C>T (p.Phe31=)
|
|
|
NM_001080442.3(SLC38A8):c.946C>T (p.Leu316=)
|
|
|
NM_001080442.3(SLC38A8):c.948G>A (p.Leu316=)
|
|
|
NM_001080442.3(SLC38A8):c.948G>T (p.Leu316=)
|
|
|
NM_001080442.3(SLC38A8):c.951G>A (p.Gly317=)
|
|
|
NM_001080442.3(SLC38A8):c.951dup (p.Arg318fs)
|
|
|
NM_001080442.3(SLC38A8):c.953+10G>T
|
|
|
NM_001080442.3(SLC38A8):c.953+11G>A
|
|
|
NM_001080442.3(SLC38A8):c.953+12C>T
|
|
|
NM_001080442.3(SLC38A8):c.953+14C>T
|
|
|
NM_001080442.3(SLC38A8):c.953+15A>G
|
|
|
NM_001080442.3(SLC38A8):c.953+16G>C
|
|
|
NM_001080442.3(SLC38A8):c.953+16G>T
|
|
|
NM_001080442.3(SLC38A8):c.953+17T>C
|
|
|
NM_001080442.3(SLC38A8):c.953+18G>A
|
|
|
NM_001080442.3(SLC38A8):c.953+18G>C
|
|
|
NM_001080442.3(SLC38A8):c.953+18G>T
|
|
|
NM_001080442.3(SLC38A8):c.953+19G>A
|
|
|
NM_001080442.3(SLC38A8):c.953+19G>T
|
|
|
NM_001080442.3(SLC38A8):c.953+1G>C
|
|
|
NM_001080442.3(SLC38A8):c.953+20G>T
|
|
|
NM_001080442.3(SLC38A8):c.953+2T>G
|
|
|
NM_001080442.3(SLC38A8):c.953+7C>G
|
|
|
NM_001080442.3(SLC38A8):c.953+7C>T
|
|
|
NM_001080442.3(SLC38A8):c.953+8C>G
|
|
|
NM_001080442.3(SLC38A8):c.953+8C>T
|
|
|
NM_001080442.3(SLC38A8):c.954-11G>A
|
|
|
NM_001080442.3(SLC38A8):c.954-14G>C
|
|
|
NM_001080442.3(SLC38A8):c.954-18_954-17del
|
|
|
NM_001080442.3(SLC38A8):c.954-20G>T
|
|
|
NM_001080442.3(SLC38A8):c.954-2A>C
|
|
|
NM_001080442.3(SLC38A8):c.954-4C>G
|
|
|
NM_001080442.3(SLC38A8):c.954-4C>T
|
|
|
NM_001080442.3(SLC38A8):c.954-7C>G
|
|
|
NM_001080442.3(SLC38A8):c.954-7C>T
|
|
|
NM_001080442.3(SLC38A8):c.957A>G (p.Ser319=)
|
|
|
NM_001080442.3(SLC38A8):c.95T>G (p.Ile32Ser)
|
rs587777253
|
|
NM_001080442.3(SLC38A8):c.960G>A (p.Val320=)
|
rs570034694
|
|
NM_001080442.3(SLC38A8):c.960G>C (p.Val320=)
|
|
|
NM_001080442.3(SLC38A8):c.960_961delinsAT (p.Met321Leu)
|
rs2151114287
|
|
NM_001080442.3(SLC38A8):c.964C>T (p.Gln322Ter)
|
|
|
NM_001080442.3(SLC38A8):c.969C>T (p.Asp323=)
|
|
|
NM_001080442.3(SLC38A8):c.972C>T (p.Phe324=)
|
|
|
NM_001080442.3(SLC38A8):c.976A>C (p.Arg326=)
|
|
|
NM_001080442.3(SLC38A8):c.981G>A (p.Arg327=)
|
|
|
NM_001080442.3(SLC38A8):c.984C>T (p.Ser328=)
|
|
|
NM_001080442.3(SLC38A8):c.988T>C (p.Leu330=)
|
|
|
NM_001080442.3(SLC38A8):c.993G>A (p.Gly331=)
|
|
|
NM_001080442.3(SLC38A8):c.994G>T (p.Gly332Ter)
|
|
|
NM_001080442.3(SLC38A8):c.995dup (p.Trp333fs)
|
|
|
NM_001080442.3(SLC38A8):c.996A>G (p.Gly332=)
|
|
|
NM_001080442.3(SLC38A8):c.996A>T (p.Gly332=)
|
|
|
NM_001080442.3(SLC38A8):c.99C>G (p.Leu33=)
|
|
|
NM_001080442.3(SLC38A8):c.99C>T (p.Leu33=)
|
|
|