|
NM_012434.5(SLC17A5):c.979-87A>G
|
rs628038
|
0.43140
|
|
NM_012434.5(SLC17A5):c.*971G>A
|
rs670248
|
0.38715
|
|
NM_012434.5(SLC17A5):c.1112-36G>A
|
rs4708065
|
0.32463
|
|
NM_012434.5(SLC17A5):c.*385C>G
|
rs3734518
|
0.26106
|
|
NM_012434.5(SLC17A5):c.526-106G>T
|
rs3757111
|
0.22477
|
|
NM_012434.5(SLC17A5):c.819+52G>A
|
rs520589
|
0.16798
|
|
NM_012434.5(SLC17A5):c.819+79T>G
|
rs558839
|
0.16769
|
|
NM_012434.5(SLC17A5):c.820-51C>G
|
rs611580
|
0.16614
|
|
NM_012434.5(SLC17A5):c.978+70G>A
|
rs610260
|
0.16613
|
|
NM_012434.5(SLC17A5):c.978+88C>T
|
rs474661
|
0.16611
|
|
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=)
|
rs472294
|
0.10691
|
|
NM_012434.5(SLC17A5):c.979-33G>A
|
rs12199937
|
0.05489
|
|
NM_012434.5(SLC17A5):c.*193A>G
|
rs3734517
|
0.05453
|
|
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=)
|
rs3757112
|
0.05389
|
|
NM_012434.5(SLC17A5):c.1111+7G>A
|
rs146729568
|
0.01982
|
|
NM_012434.5(SLC17A5):c.*909C>T
|
rs142349844
|
0.01560
|
|
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile)
|
rs16883930
|
0.01342
|
|
NM_012434.5(SLC17A5):c.*560G>A
|
rs115453489
|
0.00594
|
|
NM_012434.5(SLC17A5):c.820-3C>T
|
rs12201641
|
0.00436
|
|
NM_012434.5(SLC17A5):c.*588G>A
|
rs533473425
|
0.00317
|
|
NM_012434.5(SLC17A5):c.553A>G (p.Met185Val)
|
rs34348416
|
0.00257
|
|
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)
|
rs74360232
|
0.00215
|
|
NM_012434.5(SLC17A5):c.*1565C>T
|
rs543558815
|
0.00164
|
|
NM_012434.5(SLC17A5):c.*1492C>G
|
rs148144074
|
0.00162
|
|
NM_012434.5(SLC17A5):c.*1155T>A
|
rs921762676
|
0.00149
|
|
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)
|
rs142553916
|
0.00131
|
|
NM_012434.5(SLC17A5):c.*1533A>G
|
rs530389010
|
0.00078
|
|
NM_012434.5(SLC17A5):c.*799T>C
|
rs529408804
|
0.00067
|
|
NM_012434.5(SLC17A5):c.*1630G>T
|
rs141885984
|
0.00053
|
|
NM_012434.5(SLC17A5):c.1112-18A>G
|
rs751782561
|
0.00049
|
|
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)
|
rs80338794
|
0.00049
|
|
NM_012434.5(SLC17A5):c.*762C>T
|
rs768718508
|
0.00044
|
|
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)
|
rs147732875
|
0.00041
|
|
NM_012434.5(SLC17A5):c.*174G>C
|
rs575300701
|
0.00038
|
|
NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile)
|
rs140060360
|
0.00037
|
|
NM_012434.5(SLC17A5):c.*550G>A
|
rs538417413
|
0.00032
|
|
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser)
|
rs200632199
|
0.00032
|
|
NM_012434.5(SLC17A5):c.1059G>A (p.Arg353=)
|
rs149017456
|
0.00031
|
|
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr)
|
rs141341430
|
0.00028
|
|
NM_012434.5(SLC17A5):c.1365A>G (p.Glu455=)
|
rs192599733
|
0.00014
|
|
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)
|
rs201284672
|
0.00013
|
|
NM_012434.5(SLC17A5):c.703A>T (p.Thr235Ser)
|
rs747385791
|
0.00009
|
|
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)
|
rs386833988
|
0.00007
|
|
NM_012434.5(SLC17A5):c.1316T>C (p.Val439Ala)
|
rs573439155
|
0.00007
|
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
|
NM_012434.5(SLC17A5):c.*1692G>A
|
rs540786941
|
0.00006
|
|
NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala)
|
rs372477546
|
0.00006
|
|
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
|
NM_012434.5(SLC17A5):c.843G>A (p.Pro281=)
|
rs567868125
|
0.00006
|
|
NM_012434.5(SLC17A5):c.710G>A (p.Gly237Glu)
|
rs374659214
|
0.00005
|
|
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)
|
rs386833993
|
0.00005
|
|
NM_012434.5(SLC17A5):c.789G>A (p.Lys263=)
|
rs41265523
|
0.00005
|
|
NM_012434.5(SLC17A5):c.819+19T>C
|
rs201859687
|
0.00005
|
|
NM_012434.5(SLC17A5):c.*1696T>C
|
rs886061724
|
0.00004
|
|
NM_012434.5(SLC17A5):c.*373G>A
|
rs886061734
|
0.00004
|
|
NM_012434.5(SLC17A5):c.1426C>T (p.Leu476=)
|
rs773917333
|
0.00004
|
|
NM_012434.5(SLC17A5):c.189G>A (p.Ala63=)
|
rs924848481
|
0.00004
|
|
NM_012434.5(SLC17A5):c.526-4T>A
|
rs759145883
|
0.00004
|
|
NM_012434.5(SLC17A5):c.614-10G>A
|
rs565101031
|
0.00004
|
|
NM_012434.5(SLC17A5):c.646C>G (p.Leu216Val)
|
rs781359811
|
0.00004
|
|
NM_012434.5(SLC17A5):c.704C>T (p.Thr235Ile)
|
rs540645365
|
0.00004
|
|
NM_012434.5(SLC17A5):c.1192A>G (p.Ile398Val)
|
rs374771372
|
0.00003
|
|
NM_012434.5(SLC17A5):c.804A>G (p.Ser268=)
|
rs750559102
|
0.00003
|
|
NM_012434.5(SLC17A5):c.*1566G>A
|
rs886061726
|
0.00002
|
|
NM_012434.5(SLC17A5):c.1018T>C (p.Leu340=)
|
rs1353171390
|
0.00002
|
|
NM_012434.5(SLC17A5):c.1056A>C (p.Leu352Phe)
|
rs985998169
|
0.00002
|
|
NM_012434.5(SLC17A5):c.1333A>G (p.Lys445Glu)
|
rs751011039
|
0.00002
|
|
NM_012434.5(SLC17A5):c.1351-8C>T
|
rs770108730
|
0.00002
|
|
NM_012434.5(SLC17A5):c.1481G>C (p.Arg494Thr)
|
rs201009218
|
0.00002
|
|
NM_012434.5(SLC17A5):c.1487G>A (p.Ter496=)
|
rs1041214397
|
0.00002
|
|
NM_012434.5(SLC17A5):c.291+8C>A
|
rs766856558
|
0.00002
|
|
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)
|
rs386833990
|
0.00002
|
|
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)
|
rs386833992
|
0.00002
|
|
NM_012434.5(SLC17A5):c.510A>C (p.Leu170=)
|
rs971021026
|
0.00002
|
|
NM_012434.5(SLC17A5):c.842C>T (p.Pro281Leu)
|
rs138041282
|
0.00002
|
|
NM_012434.5(SLC17A5):c.*1206G>A
|
rs1239251189
|
0.00001
|
|
NM_012434.5(SLC17A5):c.*1450G>A
|
rs886061727
|
0.00001
|
|
NM_012434.5(SLC17A5):c.*478C>T
|
rs886061733
|
0.00001
|
|
NM_012434.5(SLC17A5):c.*488G>A
|
rs1216079110
|
0.00001
|
|
NM_012434.5(SLC17A5):c.*587C>T
|
rs1303568875
|
0.00001
|
|
NM_012434.5(SLC17A5):c.*817G>A
|
rs886061731
|
0.00001
|
|
NM_012434.5(SLC17A5):c.*837C>T
|
rs886061730
|
0.00001
|
|
NM_012434.5(SLC17A5):c.*901C>T
|
rs886061729
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs)
|
rs386833987
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)
|
rs1057516910
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1021T>C (p.Cys341Arg)
|
rs142972941
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1109_1111+2del
|
rs1767805645
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1111+1G>A
|
rs777862172
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1138G>A (p.Val380Ile)
|
rs201724072
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1154T>C (p.Ile385Thr)
|
rs758772703
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1160G>C (p.Cys387Ser)
|
rs373162864
|
0.00001
|
|
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)
|
rs769235753
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1259+1G>A
|
rs146095590
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1261T>A (p.Tyr421Asn)
|
rs775750187
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=)
|
rs374241516
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1284C>T (p.Ile428=)
|
rs1475561276
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1320G>A (p.Gly440=)
|
rs373258092
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1322C>T (p.Pro441Leu)
|
rs1214170788
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1339C>T (p.Leu447=)
|
rs1303680695
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)
|
rs1234745577
|
0.00001
|
|
NM_012434.5(SLC17A5):c.137C>G (p.Ala46Gly)
|
rs371810705
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1380C>T (p.Phe460=)
|
rs1224327278
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1387G>A (p.Ala463Thr)
|
rs367852327
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1425A>G (p.Thr475=)
|
rs763107462
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1428A>G (p.Leu476=)
|
rs770266444
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1431C>T (p.Phe477=)
|
rs1382310721
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1446A>T (p.Val482=)
|
rs1766733249
|
0.00001
|
|
NM_012434.5(SLC17A5):c.146G>T (p.Gly49Val)
|
rs754877029
|
0.00001
|
|
NM_012434.5(SLC17A5):c.264T>G (p.Ala88=)
|
rs777927222
|
0.00001
|
|
NM_012434.5(SLC17A5):c.444C>G (p.Val148=)
|
rs754150320
|
0.00001
|
|
NM_012434.5(SLC17A5):c.468T>C (p.Ala156=)
|
rs760346305
|
0.00001
|
|
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)
|
rs587779410
|
0.00001
|
|
NM_012434.5(SLC17A5):c.519A>C (p.Leu173=)
|
rs377101723
|
0.00001
|
|
NM_012434.5(SLC17A5):c.525+14C>T
|
rs1033538167
|
0.00001
|
|
NM_012434.5(SLC17A5):c.542C>G (p.Ala181Gly)
|
rs1303660578
|
0.00001
|
|
NM_012434.5(SLC17A5):c.572C>A (p.Pro191His)
|
rs1772993961
|
0.00001
|
|
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=)
|
rs924683894
|
0.00001
|
|
NM_012434.5(SLC17A5):c.574C>T (p.Pro192Ser)
|
rs149233119
|
0.00001
|
|
NM_012434.5(SLC17A5):c.645T>A (p.Pro215=)
|
rs1253015994
|
0.00001
|
|
NM_012434.5(SLC17A5):c.660T>G (p.Ile220Met)
|
rs201408081
|
0.00001
|
|
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs)
|
rs1472109408
|
0.00001
|
|
NM_012434.5(SLC17A5):c.700+19C>A
|
rs372789949
|
0.00001
|
|
NM_012434.5(SLC17A5):c.724C>A (p.Leu242Ile)
|
rs757218186
|
0.00001
|
|
NM_012434.5(SLC17A5):c.762A>C (p.Lys254Asn)
|
rs767502652
|
0.00001
|
|
NM_012434.5(SLC17A5):c.795_796insTT (p.Ile266fs)
|
rs1768947811
|
0.00001
|
|
NM_012434.5(SLC17A5):c.820-8T>A
|
rs963486778
|
0.00001
|
|
NM_012434.5(SLC17A5):c.95-13A>G
|
rs1181668892
|
0.00001
|
|
NM_012434.5(SLC17A5):c.95-17C>T
|
rs775914101
|
0.00001
|
|
NM_012434.5(SLC17A5):c.95-1G>C
|
rs386833995
|
0.00001
|
|
NC_000006.11:g.(?_74303101)_(74310165_74320122)del
|
|
|
|
NC_000006.11:g.(?_74304790)_(74310174_?)del
|
|
|
|
NC_000006.11:g.(?_74304790)_(74354336_?)del
|
|
|
|
NC_000006.11:g.(?_74304800)_(74310184_?)dup
|
|
|
|
NC_000006.11:g.(?_74304800)_(74331705_?)del
|
|
|
|
NC_000006.11:g.(?_74310054)_(74310184_?)del
|
|
|
|
NC_000006.11:g.(?_74310064)_(74310174_?)del
|
|
|
|
NC_000006.11:g.(?_74310064)_(74310174_?)dup
|
|
|
|
NC_000006.11:g.(?_74320103)_(74320290_?)del
|
|
|
|
NC_000006.11:g.(?_74325018)_(74325190_?)del
|
|
|
|
NC_000006.11:g.(?_74331507)_(74331705_?)del
|
|
|
|
NC_000006.11:g.(?_74345095)_(74345233_?)del
|
|
|
|
NC_000006.11:g.(?_74345095)_(74346440_?)del
|
|
|
|
NC_000006.11:g.(?_74345119)_(74347569_?)del
|
|
|
|
NC_000006.11:g.(?_74354110)_(74363609_?)del
|
|
|
|
NC_000006.11:g.(?_74363496)_(74363609_?)del
|
|
|
|
NC_000006.12:g.(?_73610390)_(73615457_?)dup
|
|
|
|
NC_000006.12:g.(?_73644397)_(73644613_?)del
|
|
|
|
NG_008272.1:g.(37212_43567)_(48616_58573)del
|
|
|
|
NM_012434.5(SLC17A5):c.*1056A>G
|
rs938117850
|
|
|
NM_012434.5(SLC17A5):c.*1332T>A
|
rs886061728
|
|
|
NM_012434.5(SLC17A5):c.*1332del
|
rs559455789
|
|
|
NM_012434.5(SLC17A5):c.*1587del
|
rs886061725
|
|
|
NM_012434.5(SLC17A5):c.*501G>A
|
rs933119464
|
|
|
NM_012434.5(SLC17A5):c.*595C>G
|
rs540399289
|
|
|
NM_012434.5(SLC17A5):c.*666C>T
|
rs886061732
|
|
|
NM_012434.5(SLC17A5):c.*764G>A
|
rs139964473
|
|
|
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)
|
rs119491110
|
|
|
NM_012434.5(SLC17A5):c.1008A>G (p.Leu336=)
|
|
|
|
NM_012434.5(SLC17A5):c.1019dup (p.Leu340fs)
|
|
|
|
NM_012434.5(SLC17A5):c.1023T>C (p.Cys341=)
|
|
|
|
NM_012434.5(SLC17A5):c.1032G>A (p.Leu344=)
|
rs2150091563
|
|
|
NM_012434.5(SLC17A5):c.1035_1036insCTTATACACA (p.Gly346fs)
|
|
|
|
NM_012434.5(SLC17A5):c.1039C>T (p.Gln347Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.1045G>A (p.Ala349Thr)
|
rs1767808770
|
|
|
NM_012434.5(SLC17A5):c.1048del (p.Asp350fs)
|
|
|
|
NM_012434.5(SLC17A5):c.1050C>T (p.Asp350=)
|
|
|
|
NM_012434.5(SLC17A5):c.1086del (p.Cys362fs)
|
|
|
|
NM_012434.5(SLC17A5):c.1087G>A (p.Val363Ile)
|
rs2150091513
|
|
|
NM_012434.5(SLC17A5):c.1092C>T (p.Arg364=)
|
|
|
|
NM_012434.5(SLC17A5):c.1095A>G (p.Arg365=)
|
|
|
|
NM_012434.5(SLC17A5):c.1096delinsTGTGTATAAGAGACAGT (p.Ile366delinsCysValTer)
|
|
|
|
NM_012434.5(SLC17A5):c.1111+10G>A
|
|
|
|
NM_012434.5(SLC17A5):c.1111+15C>G
|
|
|
|
NM_012434.5(SLC17A5):c.1111+16A>G
|
|
|
|
NM_012434.5(SLC17A5):c.1111+17G>A
|
|
|
|
NM_012434.5(SLC17A5):c.1111+1G>T
|
rs777862172
|
|
|
NM_012434.5(SLC17A5):c.1111+8A>T
|
|
|
|
NM_012434.5(SLC17A5):c.1111+9A>G
|
|
|
|
NM_012434.5(SLC17A5):c.1111+9A>T
|
|
|
|
NM_012434.5(SLC17A5):c.1111G>A (p.Gly371Arg)
|
rs1277966688
|
|
|
NM_012434.5(SLC17A5):c.1112-12T>C
|
|
|
|
NM_012434.5(SLC17A5):c.1112-12_1112-5del
|
rs2150086759
|
|
|
NM_012434.5(SLC17A5):c.1112-14C>T
|
|
|
|
NM_012434.5(SLC17A5):c.1112-8A>C
|
rs1581962639
|
|
|
NM_012434.5(SLC17A5):c.1112-9T>A
|
|
|
|
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs)
|
rs1057517119
|
|
|
NM_012434.5(SLC17A5):c.1127del (p.Ala376fs)
|
rs1057517111
|
|
|
NM_012434.5(SLC17A5):c.1131A>G (p.Val377=)
|
rs2150086727
|
|
|
NM_012434.5(SLC17A5):c.1131A>T (p.Val377=)
|
|
|
|
NM_012434.5(SLC17A5):c.1137G>C (p.Leu379=)
|
|
|
|
NM_012434.5(SLC17A5):c.1140A>C (p.Val380=)
|
rs2150086711
|
|
|
NM_012434.5(SLC17A5):c.1141G>C (p.Ala381Pro)
|
|
|
|
NM_012434.5(SLC17A5):c.1149C>T (p.Gly383=)
|
|
|
|
NM_012434.5(SLC17A5):c.114T>C (p.Ala38=)
|
|
|
|
NM_012434.5(SLC17A5):c.1153A>G (p.Ile385Val)
|
|
|
|
NM_012434.5(SLC17A5):c.1161T>C (p.Cys387=)
|
|
|
|
NM_012434.5(SLC17A5):c.1167T>C (p.Tyr389=)
|
rs1054309453
|
|
|
NM_012434.5(SLC17A5):c.1176C>A (p.Ala392=)
|
|
|
|
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=)
|
rs372195490
|
|
|
NM_012434.5(SLC17A5):c.1182T>C (p.Ala394=)
|
|
|
|
NM_012434.5(SLC17A5):c.1197A>C (p.Ser399=)
|
|
|
|
NM_012434.5(SLC17A5):c.1201A>G (p.Thr401Ala)
|
|
|
|
NM_012434.5(SLC17A5):c.1202C>T (p.Thr401Ile)
|
|
|
|
NM_012434.5(SLC17A5):c.1208del (p.Gly403fs)
|
rs1554161865
|
|
|
NM_012434.5(SLC17A5):c.120C>T (p.Tyr40=)
|
|
|
|
NM_012434.5(SLC17A5):c.1215T>C (p.Phe405=)
|
rs2150086614
|
|
|
NM_012434.5(SLC17A5):c.1223del (p.Ser408fs)
|
rs868677428
|
|
|
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu)
|
rs386833989
|
|
|
NM_012434.5(SLC17A5):c.1250T>C (p.Ile417Thr)
|
|
|
|
NM_012434.5(SLC17A5):c.1254T>C (p.Ala418=)
|
|
|
|
NM_012434.5(SLC17A5):c.1259+11A>G
|
|
|
|
NM_012434.5(SLC17A5):c.1259+12T>C
|
|
|
|
NM_012434.5(SLC17A5):c.1259+14_1259+15del
|
|
|
|
NM_012434.5(SLC17A5):c.1259+18G>A
|
|
|
|
NM_012434.5(SLC17A5):c.1259+1G>T
|
rs146095590
|
|
|
NM_012434.5(SLC17A5):c.1259+2T>C
|
rs1064794334
|
|
|
NM_012434.5(SLC17A5):c.1259+3G>A
|
|
|
|
NM_012434.5(SLC17A5):c.1259+8C>G
|
|
|
|
NM_012434.5(SLC17A5):c.1260-15A>G
|
|
|
|
NM_012434.5(SLC17A5):c.1260-2A>C
|
|
|
|
NM_012434.5(SLC17A5):c.1260-4A>G
|
rs764321218
|
|
|
NM_012434.5(SLC17A5):c.1260-5T>A
|
|
|
|
NM_012434.5(SLC17A5):c.1260-6C>T
|
rs2150075911
|
|
|
NM_012434.5(SLC17A5):c.1260G>C (p.Ser420=)
|
rs760766672
|
|
|
NM_012434.5(SLC17A5):c.1263T>C (p.Tyr421=)
|
|
|
|
NM_012434.5(SLC17A5):c.1272C>T (p.Ile424=)
|
rs374241516
|
|
|
NM_012434.5(SLC17A5):c.1275C>T (p.Leu425=)
|
|
|
|
NM_012434.5(SLC17A5):c.1278G>T (p.Leu426=)
|
rs1167569087
|
|
|
NM_012434.5(SLC17A5):c.127G>A (p.Ala43Thr)
|
rs545973
|
|
|
NM_012434.5(SLC17A5):c.1287A>G (p.Thr429=)
|
|
|
|
NM_012434.5(SLC17A5):c.1293A>G (p.Thr431=)
|
|
|
|
NM_012434.5(SLC17A5):c.129A>G (p.Ala43=)
|
rs966339277
|
|
|
NM_012434.5(SLC17A5):c.1302T>G (p.Thr434=)
|
|
|
|
NM_012434.5(SLC17A5):c.130A>G (p.Ile44Val)
|
|
|
|
NM_012434.5(SLC17A5):c.1317T>C (p.Val439=)
|
|
|
|
NM_012434.5(SLC17A5):c.1320G>C (p.Gly440=)
|
rs373258092
|
|
|
NM_012434.5(SLC17A5):c.1323C>T (p.Pro441=)
|
|
|
|
NM_012434.5(SLC17A5):c.1326C>T (p.Val442=)
|
|
|
|
NM_012434.5(SLC17A5):c.1327dup (p.Ile443fs)
|
rs1554160766
|
|
|
NM_012434.5(SLC17A5):c.1341del (p.Thr448fs)
|
|
|
|
NM_012434.5(SLC17A5):c.1344C>T (p.Thr448=)
|
|
|
|
NM_012434.5(SLC17A5):c.1349A>G (p.Asp450Gly)
|
|
|
|
NM_012434.5(SLC17A5):c.1350+13T>G
|
|
|
|
NM_012434.5(SLC17A5):c.1350+15T>C
|
|
|
|
NM_012434.5(SLC17A5):c.1350+1G>A
|
rs1057516951
|
|
|
NM_012434.5(SLC17A5):c.1350+8G>C
|
rs918930871
|
|
|
NM_012434.5(SLC17A5):c.1351-15del
|
rs1341837566
|
|
|
NM_012434.5(SLC17A5):c.1351-15dup
|
|
|
|
NM_012434.5(SLC17A5):c.1351-2A>G
|
rs1554160244
|
|
|
NM_012434.5(SLC17A5):c.1351-5T>C
|
rs2150071217
|
|
|
NM_012434.5(SLC17A5):c.1351-9C>A
|
rs1201860872
|
|
|
NM_012434.5(SLC17A5):c.1352A>G (p.Asn451Ser)
|
|
|
|
NM_012434.5(SLC17A5):c.1355C>G (p.Thr452Ser)
|
|
|
|
NM_012434.5(SLC17A5):c.1358T>G (p.Val453Gly)
|
rs886061735
|
|
|
NM_012434.5(SLC17A5):c.1367G>A (p.Trp456Ter)
|
rs1554160239
|
|
|
NM_012434.5(SLC17A5):c.1369C>T (p.Gln457Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.1374C>T (p.Thr458=)
|
|
|
|
NM_012434.5(SLC17A5):c.1375G>A (p.Val459Met)
|
|
|
|
NM_012434.5(SLC17A5):c.138C>T (p.Ala46=)
|
|
|
|
NM_012434.5(SLC17A5):c.1401T>C (p.Asn467=)
|
rs1017115082
|
|
|
NM_012434.5(SLC17A5):c.1407T>C (p.Phe469=)
|
|
|
|
NM_012434.5(SLC17A5):c.1417_1427del (p.Phe473fs)
|
rs1554160223
|
|
|
NM_012434.5(SLC17A5):c.1419C>G (p.Phe473Leu)
|
|
|
|
NM_012434.5(SLC17A5):c.1422T>C (p.Phe474=)
|
rs766608932
|
|
|
NM_012434.5(SLC17A5):c.1440T>C (p.Gly480=)
|
rs2150071076
|
|
|
NM_012434.5(SLC17A5):c.144T>C (p.Phe48=)
|
|
|
|
NM_012434.5(SLC17A5):c.144dup (p.Gly49fs)
|
rs1562000876
|
|
|
NM_012434.5(SLC17A5):c.1452C>T (p.Asn484=)
|
|
|
|
NM_012434.5(SLC17A5):c.1462_1464del (p.Asn488del)
|
|
|
|
NM_012434.5(SLC17A5):c.146del (p.Gly49fs)
|
rs2150120888
|
|
|
NM_012434.5(SLC17A5):c.1473T>C (p.His491=)
|
|
|
|
NM_012434.5(SLC17A5):c.1479C>T (p.His493=)
|
|
|
|
NM_012434.5(SLC17A5):c.1479_1480del (p.His493fs)
|
rs1554160206
|
|
|
NM_012434.5(SLC17A5):c.1479dup (p.Arg494fs)
|
rs1554160209
|
|
|
NM_012434.5(SLC17A5):c.1482A>G (p.Arg494=)
|
rs2150071024
|
|
|
NM_012434.5(SLC17A5):c.156T>C (p.Ile52=)
|
|
|
|
NM_012434.5(SLC17A5):c.157del (p.Val53fs)
|
rs2150120881
|
|
|
NM_012434.5(SLC17A5):c.159G>A (p.Val53=)
|
|
|
|
NM_012434.5(SLC17A5):c.169C>T (p.Arg57Cys)
|
rs754150739
|
|
|
NM_012434.5(SLC17A5):c.178C>T (p.Leu60=)
|
|
|
|
NM_012434.5(SLC17A5):c.180G>C (p.Leu60=)
|
|
|
|
NM_012434.5(SLC17A5):c.192A>G (p.Leu64=)
|
|
|
|
NM_012434.5(SLC17A5):c.197A>G (p.Asp66Gly)
|
|
|
|
NM_012434.5(SLC17A5):c.198T>C (p.Asp66=)
|
rs2150120840
|
|
|
NM_012434.5(SLC17A5):c.204del (p.Asp69fs)
|
rs1057516549
|
|
|
NM_012434.5(SLC17A5):c.215_216del (p.Thr72fs)
|
rs1057516505
|
|
|
NM_012434.5(SLC17A5):c.215del (p.Thr72fs)
|
rs1057517269
|
|
|
NM_012434.5(SLC17A5):c.221T>A (p.Leu74Ter)
|
rs1474077825
|
|
|
NM_012434.5(SLC17A5):c.221T>G (p.Leu74Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.222A>G (p.Leu74=)
|
rs760030802
|
|
|
NM_012434.5(SLC17A5):c.229A>G (p.Asn77Asp)
|
|
|
|
NM_012434.5(SLC17A5):c.231T>C (p.Asn77=)
|
|
|
|
NM_012434.5(SLC17A5):c.233G>C (p.Arg78Thr)
|
|
|
|
NM_012434.5(SLC17A5):c.240C>A (p.Ser80=)
|
rs374617105
|
|
|
NM_012434.5(SLC17A5):c.240C>T (p.Ser80=)
|
rs374617105
|
|
|
NM_012434.5(SLC17A5):c.243G>A (p.Lys81=)
|
rs2150120782
|
|
|
NM_012434.5(SLC17A5):c.244G>C (p.Ala82Pro)
|
rs199727701
|
|
|
NM_012434.5(SLC17A5):c.254del (p.Glu85fs)
|
|
|
|
NM_012434.5(SLC17A5):c.261T>C (p.Ser87=)
|
rs1389502020
|
|
|
NM_012434.5(SLC17A5):c.262G>C (p.Ala88Pro)
|
|
|
|
NM_012434.5(SLC17A5):c.264T>C (p.Ala88=)
|
rs777927222
|
|
|
NM_012434.5(SLC17A5):c.266C>A (p.Pro89His)
|
|
|
|
NM_012434.5(SLC17A5):c.267del (p.Pro89_Ile90insTer)
|
|
|
|
NM_012434.5(SLC17A5):c.275T>C (p.Val92Ala)
|
rs2150120727
|
|
|
NM_012434.5(SLC17A5):c.286C>T (p.Gln96Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.289dup (p.Thr97fs)
|
|
|
|
NM_012434.5(SLC17A5):c.290C>T (p.Thr97Met)
|
|
|
|
NM_012434.5(SLC17A5):c.291+10A>T
|
rs770302216
|
|
|
NM_012434.5(SLC17A5):c.291+13T>G
|
|
|
|
NM_012434.5(SLC17A5):c.291+14T>C
|
|
|
|
NM_012434.5(SLC17A5):c.291+16dup
|
|
|
|
NM_012434.5(SLC17A5):c.291+7G>A
|
rs1211429440
|
|
|
NM_012434.5(SLC17A5):c.291+7G>T
|
|
|
|
NM_012434.5(SLC17A5):c.360C>A (p.Ile120=)
|
|
|
|
NM_012434.5(SLC17A5):c.373C>T (p.Pro125Ser)
|
|
|
|
NM_012434.5(SLC17A5):c.384T>A (p.Tyr128Ter)
|
rs1057516257
|
|
|
NM_012434.5(SLC17A5):c.388G>A (p.Ala130Thr)
|
rs201070520
|
|
|
NM_012434.5(SLC17A5):c.390del (p.Ser131fs)
|
|
|
|
NM_012434.5(SLC17A5):c.401G>T (p.Gly134Val)
|
|
|
|
NM_012434.5(SLC17A5):c.407A>G (p.Lys136Arg)
|
|
|
|
NM_012434.5(SLC17A5):c.408A>G (p.Lys136=)
|
|
|
|
NM_012434.5(SLC17A5):c.409del (p.Met137fs)
|
rs794729653
|
|
|
NM_012434.5(SLC17A5):c.413T>C (p.Leu138Pro)
|
|
|
|
NM_012434.5(SLC17A5):c.421T>C (p.Phe141Leu)
|
|
|
|
NM_012434.5(SLC17A5):c.423del (p.Phe141fs)
|
rs1057516419
|
|
|
NM_012434.5(SLC17A5):c.436_437insACTCCTAAAT (p.Thr146delinsAsnSerTer)
|
|
|
|
NM_012434.5(SLC17A5):c.441T>A (p.Ala147=)
|
|
|
|
NM_012434.5(SLC17A5):c.441T>C (p.Ala147=)
|
rs2150118328
|
|
|
NM_012434.5(SLC17A5):c.444C>T (p.Val148=)
|
rs754150320
|
|
|
NM_012434.5(SLC17A5):c.447C>T (p.Leu149=)
|
|
|
|
NM_012434.5(SLC17A5):c.453G>A (p.Leu151=)
|
rs138093163
|
|
|
NM_012434.5(SLC17A5):c.456C>T (p.Phe152=)
|
|
|
|
NM_012434.5(SLC17A5):c.458_460delinsATCTAAGTGT (p.Thr153fs)
|
|
|
|
NM_012434.5(SLC17A5):c.467_525+125del
|
|
|
|
NM_012434.5(SLC17A5):c.479del (p.Gly160fs)
|
|
|
|
NM_012434.5(SLC17A5):c.485_486insCAAGAGAGCAAAATAC (p.Pro163fs)
|
|
|
|
NM_012434.5(SLC17A5):c.489A>G (p.Pro163=)
|
rs1769294987
|
|
|
NM_012434.5(SLC17A5):c.492C>T (p.Leu164=)
|
rs2150118298
|
|
|
NM_012434.5(SLC17A5):c.494T>C (p.Ile165Thr)
|
|
|
|
NM_012434.5(SLC17A5):c.505G>C (p.Ala169Pro)
|
|
|
|
NM_012434.5(SLC17A5):c.507A>C (p.Ala169=)
|
rs369334689
|
|
|
NM_012434.5(SLC17A5):c.507A>T (p.Ala169=)
|
|
|
|
NM_012434.5(SLC17A5):c.512_514del (p.Glu171del)
|
rs2150118267
|
|
|
NM_012434.5(SLC17A5):c.517C>T (p.Leu173=)
|
rs2150118262
|
|
|
NM_012434.5(SLC17A5):c.519A>G (p.Leu173=)
|
rs377101723
|
|
|
NM_012434.5(SLC17A5):c.525+16C>G
|
|
|
|
NM_012434.5(SLC17A5):c.525+19_525+20del
|
|
|
|
NM_012434.5(SLC17A5):c.525+20T>G
|
|
|
|
NM_012434.5(SLC17A5):c.525+36G>C
|
rs12192476
|
|
|
NM_012434.5(SLC17A5):c.525+3A>G
|
|
|
|
NM_012434.5(SLC17A5):c.525+9C>G
|
rs1769291251
|
|
|
NM_012434.5(SLC17A5):c.525+9C>T
|
|
|
|
NM_012434.5(SLC17A5):c.526-10C>T
|
|
|
|
NM_012434.5(SLC17A5):c.526-18_526-16del
|
|
|
|
NM_012434.5(SLC17A5):c.526-19T>C
|
|
|
|
NM_012434.5(SLC17A5):c.526-2A>G
|
rs1554164096
|
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NM_012434.5(SLC17A5):c.526-8TC[2]
|
rs1581985046
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NM_012434.5(SLC17A5):c.527G>T (p.Gly176Val)
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|
NM_012434.5(SLC17A5):c.531T>A (p.Val177=)
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NM_012434.5(SLC17A5):c.532dup (p.Thr178fs)
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NM_012434.5(SLC17A5):c.544A>T (p.Met182Leu)
|
rs1454840237
|
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|
NM_012434.5(SLC17A5):c.548A>G (p.His183Arg)
|
rs119491109
|
|
|
NM_012434.5(SLC17A5):c.549T>C (p.His183=)
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|
NM_012434.5(SLC17A5):c.575del (p.Pro192fs)
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NM_012434.5(SLC17A5):c.578T>C (p.Leu193Pro)
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NM_012434.5(SLC17A5):c.579T>G (p.Leu193=)
|
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|
NM_012434.5(SLC17A5):c.579_580insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCCCCCCCCCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGGGGCTCCCCCTCTT (p.Leu193_Glu194insPhePhePhePhePhePheXaaXaaXaaXaaProProProProProSerArgThrGlyArgLeuAlaGlyGlnArgGlySerSerLeuProSerArgGlyGlyArgAlaGluGlyAlaProProLeu)
|
rs2150115214
|
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|
NM_012434.5(SLC17A5):c.586A>G (p.Ser196Gly)
|
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|
|
NM_012434.5(SLC17A5):c.590A>G (p.Lys197Arg)
|
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|
NM_012434.5(SLC17A5):c.600C>T (p.Ser200=)
|
rs2150115197
|
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|
NM_012434.5(SLC17A5):c.606A>T (p.Ser202=)
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|
NM_012434.5(SLC17A5):c.609T>C (p.Tyr203=)
|
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|
NM_012434.5(SLC17A5):c.609dup (p.Ala204fs)
|
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NM_012434.5(SLC17A5):c.613+11A>G
|
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NM_012434.5(SLC17A5):c.613+12A>G
|
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NM_012434.5(SLC17A5):c.613+14T>C
|
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|
NM_012434.5(SLC17A5):c.613+19A>T
|
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|
NM_012434.5(SLC17A5):c.613+1G>A
|
rs1769124033
|
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|
NM_012434.5(SLC17A5):c.613+2T>A
|
rs1554164078
|
|
|
NM_012434.5(SLC17A5):c.614-13T>C
|
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NM_012434.5(SLC17A5):c.614-14dup
|
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|
NM_012434.5(SLC17A5):c.614-1G>A
|
rs1554163958
|
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|
NM_012434.5(SLC17A5):c.614-7_614-5del
|
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|
NM_012434.5(SLC17A5):c.614-8T>C
|
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|
NM_012434.5(SLC17A5):c.614-9T>C
|
rs2150113641
|
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|
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter)
|
rs1769021763
|
|
|
NM_012434.5(SLC17A5):c.627G>A (p.Gly209=)
|
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|
NM_012434.5(SLC17A5):c.627G>T (p.Gly209=)
|
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|
NM_012434.5(SLC17A5):c.642T>C (p.Leu214=)
|
rs2150113603
|
|
|
NM_012434.5(SLC17A5):c.663C>T (p.Cys221=)
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|
|
|
NM_012434.5(SLC17A5):c.680C>A (p.Thr227Asn)
|
|
|
|
NM_012434.5(SLC17A5):c.680C>G (p.Thr227Ser)
|
rs2150113556
|
|
|
NM_012434.5(SLC17A5):c.681T>C (p.Thr227=)
|
rs2150113553
|
|
|
NM_012434.5(SLC17A5):c.683_698del (p.Tyr228fs)
|
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|
|
NM_012434.5(SLC17A5):c.684T>C (p.Tyr228=)
|
rs1554163945
|
|
|
NM_012434.5(SLC17A5):c.684T>G (p.Tyr228Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.693C>A (p.Tyr231Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.693del (p.Phe233fs)
|
rs1057516862
|
|
|
NM_012434.5(SLC17A5):c.699del (p.Phe233fs)
|
rs779548058
|
|
|
NM_012434.5(SLC17A5):c.699dup (p.Gly234fs)
|
|
|
|
NM_012434.5(SLC17A5):c.700+12A>T
|
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|
NM_012434.5(SLC17A5):c.700+2T>C
|
rs1440688652
|
|
|
NM_012434.5(SLC17A5):c.700+8T>A
|
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|
NM_012434.5(SLC17A5):c.701-14T>C
|
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NM_012434.5(SLC17A5):c.701-16A>G
|
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NM_012434.5(SLC17A5):c.701-19_701-18del
|
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NM_012434.5(SLC17A5):c.701-1G>A
|
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NM_012434.5(SLC17A5):c.701-22_701-19del
|
rs1561997520
|
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|
NM_012434.5(SLC17A5):c.701-7T>C
|
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|
NM_012434.5(SLC17A5):c.701-8A>G
|
|
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NM_012434.5(SLC17A5):c.711A>G (p.Gly237=)
|
|
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|
NM_012434.5(SLC17A5):c.718dup (p.Trp240fs)
|
rs1554163878
|
|
|
NM_012434.5(SLC17A5):c.719G>T (p.Trp240Leu)
|
rs386833993
|
|
|
NM_012434.5(SLC17A5):c.727T>C (p.Leu243=)
|
rs2150112400
|
|
|
NM_012434.5(SLC17A5):c.729G>A (p.Leu243=)
|
rs1207694346
|
|
|
NM_012434.5(SLC17A5):c.735dup (p.Trp246fs)
|
|
|
|
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter)
|
rs755923873
|
|
|
NM_012434.5(SLC17A5):c.744_747del (p.Ser249fs)
|
rs753141230
|
|
|
NM_012434.5(SLC17A5):c.757C>T (p.Gln253Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.758A>G (p.Gln253Arg)
|
|
|
|
NM_012434.5(SLC17A5):c.760A>G (p.Lys254Glu)
|
|
|
|
NM_012434.5(SLC17A5):c.768G>A (p.Lys256=)
|
|
|
|
NM_012434.5(SLC17A5):c.771A>G (p.Arg257=)
|
|
|
|
NM_012434.5(SLC17A5):c.776C>T (p.Ser259Phe)
|
rs149340734
|
|
|
NM_012434.5(SLC17A5):c.780T>C (p.His260=)
|
|
|
|
NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp)
|
rs1768948534
|
|
|
NM_012434.5(SLC17A5):c.790G>T (p.Glu264Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.792A>G (p.Glu264=)
|
|
|
|
NM_012434.5(SLC17A5):c.795C>T (p.Tyr265=)
|
|
|
|
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)
|
rs386833994
|
|
|
NM_012434.5(SLC17A5):c.804A>T (p.Ser268=)
|
rs750559102
|
|
|
NM_012434.5(SLC17A5):c.809T>A (p.Leu270Ter)
|
rs1768947396
|
|
|
NM_012434.5(SLC17A5):c.813A>G (p.Arg271=)
|
|
|
|
NM_012434.5(SLC17A5):c.818A>G (p.Gln273Arg)
|
rs761959120
|
|
|
NM_012434.5(SLC17A5):c.819+1G>A
|
rs1057517028
|
|
|
NM_012434.5(SLC17A5):c.819+7A>C
|
rs2150112286
|
|
|
NM_012434.5(SLC17A5):c.820-16T>C
|
|
|
|
NM_012434.5(SLC17A5):c.820-17A>G
|
|
|
|
NM_012434.5(SLC17A5):c.820-19T>C
|
|
|
|
NM_012434.5(SLC17A5):c.820-2A>C
|
rs1554162842
|
|
|
NM_012434.5(SLC17A5):c.825T>C (p.Ser275=)
|
rs2150099476
|
|
|
NM_012434.5(SLC17A5):c.825T>G (p.Ser275=)
|
rs2150099476
|
|
|
NM_012434.5(SLC17A5):c.828A>C (p.Ser276=)
|
|
|
|
NM_012434.5(SLC17A5):c.829C>T (p.Gln277Ter)
|
rs1768174708
|
|
|
NM_012434.5(SLC17A5):c.837A>G (p.Ser279=)
|
rs2150099452
|
|
|
NM_012434.5(SLC17A5):c.837_842dup (p.Val280_Pro281dup)
|
rs1554162837
|
|
|
NM_012434.5(SLC17A5):c.843G>T (p.Pro281=)
|
rs567868125
|
|
|
NM_012434.5(SLC17A5):c.846_849del (p.Trp282fs)
|
|
|
|
NM_012434.5(SLC17A5):c.849A>T (p.Val283=)
|
rs1561992699
|
|
|
NM_012434.5(SLC17A5):c.857T>A (p.Leu286Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.860_863dup (p.Leu289fs)
|
rs2150099393
|
|
|
NM_012434.5(SLC17A5):c.864C>A (p.Ser288=)
|
rs1392111099
|
|
|
NM_012434.5(SLC17A5):c.864C>G (p.Ser288=)
|
rs1392111099
|
|
|
NM_012434.5(SLC17A5):c.867G>A (p.Leu289=)
|
|
|
|
NM_012434.5(SLC17A5):c.873T>C (p.Leu291=)
|
rs746795819
|
|
|
NM_012434.5(SLC17A5):c.880A>C (p.Ile294Leu)
|
|
|
|
NM_012434.5(SLC17A5):c.882C>T (p.Ile294=)
|
rs1768170111
|
|
|
NM_012434.5(SLC17A5):c.903C>G (p.Tyr301Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.905del (p.Asn302fs)
|
rs771156053
|
|
|
NM_012434.5(SLC17A5):c.908G>A (p.Trp303Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter)
|
rs1057516601
|
|
|
NM_012434.5(SLC17A5):c.915_916del (p.Phe305fs)
|
|
|
|
NM_012434.5(SLC17A5):c.916del (p.Tyr306fs)
|
|
|
|
NM_012434.5(SLC17A5):c.923T>G (p.Leu308Ter)
|
rs766036082
|
|
|
NM_012434.5(SLC17A5):c.924A>G (p.Leu308=)
|
rs2150099285
|
|
|
NM_012434.5(SLC17A5):c.927G>A (p.Leu309=)
|
|
|
|
NM_012434.5(SLC17A5):c.933A>G (p.Leu311=)
|
|
|
|
NM_012434.5(SLC17A5):c.945T>C (p.Tyr315=)
|
rs2150099250
|
|
|
NM_012434.5(SLC17A5):c.95-13A>T
|
|
|
|
NM_012434.5(SLC17A5):c.95-19T>C
|
|
|
|
NM_012434.5(SLC17A5):c.95-19del
|
|
|
|
NM_012434.5(SLC17A5):c.95-1G>A
|
|
|
|
NM_012434.5(SLC17A5):c.95-1G>T
|
|
|
|
NM_012434.5(SLC17A5):c.95-20T>G
|
|
|
|
NM_012434.5(SLC17A5):c.95-37_95-20del
|
rs771211311
|
|
|
NM_012434.5(SLC17A5):c.952G>T (p.Glu318Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.954G>A (p.Glu318=)
|
|
|
|
NM_012434.5(SLC17A5):c.964_976del (p.Phe322fs)
|
rs2150099225
|
|
|
NM_012434.5(SLC17A5):c.96T>A (p.Ala32=)
|
|
|
|
NM_012434.5(SLC17A5):c.972T>C (p.Val324=)
|
|
|
|
NM_012434.5(SLC17A5):c.976G>T (p.Glu326Ter)
|
rs745386414
|
|
|
NM_012434.5(SLC17A5):c.978+11dup
|
rs2150099214
|
|
|
NM_012434.5(SLC17A5):c.978+13_978+15del
|
|
|
|
NM_012434.5(SLC17A5):c.978+16C>T
|
|
|
|
NM_012434.5(SLC17A5):c.978+17_978+19del
|
|
|
|
NM_012434.5(SLC17A5):c.978+18T>A
|
|
|
|
NM_012434.5(SLC17A5):c.978+1G>A
|
rs2150099218
|
|
|
NM_012434.5(SLC17A5):c.979-10T>C
|
|
|
|
NM_012434.5(SLC17A5):c.979-11A>G
|
|
|
|
NM_012434.5(SLC17A5):c.979-12T>C
|
|
|
|
NM_012434.5(SLC17A5):c.979-1G>T
|
|
|
|
NM_012434.5(SLC17A5):c.979-2A>G
|
rs1554162230
|
|
|
NM_012434.5(SLC17A5):c.979-7C>T
|
rs1247597551
|
|
|
NM_012434.5(SLC17A5):c.983G>A (p.Gly328Glu)
|
rs386833996
|
|
|
NM_012434.5(SLC17A5):c.992_995delinsAT (p.Ser331fs)
|
|
|
|
NM_012434.5(SLC17A5):c.994del (p.Ser332fs)
|
|
|
|
NM_012434.5(SLC17A5):c.998del (p.Leu333fs)
|
rs779494716
|
|
|
NM_012434.5(SLC17A5):c.999G>A (p.Leu333=)
|
rs1561989819
|
|
|
NM_012434.5:c.579_580insAlu
|
|
|
|
SLC17A5, 500-BP INS, NT978
|
|
|