NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
NM_153603.4(COG7):c.435+2T>C
|
rs201446992
|
0.00023
|
NM_006302.3(MOGS):c.370C>T (p.Gln124Ter)
|
rs587777323
|
0.00007
|
NM_015386.3(COG4):c.1840G>T (p.Glu614Ter)
|
rs1048764460
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_152464.3(TMEM199):c.92G>C (p.Arg31Pro)
|
rs782531869
|
0.00006
|
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)
|
rs779241085
|
0.00005
|
NM_006302.3(MOGS):c.882del (p.Glu295fs)
|
rs765427546
|
0.00004
|
NM_006348.5(COG5):c.613C>T (p.Arg205Ter)
|
rs370851836
|
0.00004
|
NM_020751.3(COG6):c.511C>T (p.Arg171Ter)
|
rs200177031
|
0.00004
|
NM_032357.4(CCDC115):c.92T>C (p.Leu31Ser)
|
rs751325113
|
0.00004
|
NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile)
|
rs142863074
|
0.00003
|
NM_018475.5(TMEM165):c.792+182G>A
|
rs793888506
|
0.00003
|
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter)
|
rs1292534396
|
0.00003
|
NM_025191.4(EDEM3):c.182A>G (p.Asp61Gly)
|
rs777353823
|
0.00003
|
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg)
|
rs778210210
|
0.00002
|
NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp)
|
rs1065764
|
0.00002
|
NM_006302.3(MOGS):c.1483C>T (p.Arg495Ter)
|
rs746601093
|
0.00002
|
NM_006302.3(MOGS):c.646del (p.Val216fs)
|
rs777654978
|
0.00002
|
NM_006348.5(COG5):c.2122C>T (p.Arg708Ter)
|
rs762675426
|
0.00002
|
NM_006348.5(COG5):c.847C>T (p.Arg283Ter)
|
rs548774836
|
0.00002
|
NM_015949.3(GET4):c.365G>A (p.Arg122His)
|
rs1268790820
|
0.00002
|
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)
|
rs193302881
|
0.00001
|
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)
|
rs193302882
|
0.00001
|
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)
|
rs121908978
|
0.00001
|
NM_002408.4(MGAT2):c.1120C>T (p.His374Tyr)
|
rs776531113
|
0.00001
|
NM_002408.4(MGAT2):c.91C>T (p.Gln31Ter)
|
rs1310787426
|
0.00001
|
NM_006302.3(MOGS):c.1862dup (p.Ala621_Glu622insTer)
|
rs1399649784
|
0.00001
|
NM_006348.5(COG5):c.1159del (p.Arg387fs)
|
rs1422285851
|
0.00001
|
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter)
|
rs148069173
|
0.00001
|
NM_006348.5(COG5):c.1687G>T (p.Val563Phe)
|
rs773453129
|
0.00001
|
NM_006348.5(COG5):c.1984A>C (p.Thr662Pro)
|
rs751860643
|
0.00001
|
NM_006348.5(COG5):c.2231C>T (p.Pro744Leu)
|
rs1135401817
|
0.00001
|
NM_015386.3(COG4):c.2197C>T (p.Arg733Trp)
|
rs267606740
|
0.00001
|
NM_018389.5(SLC35C1):c.942C>G (p.Tyr314Ter)
|
rs766512058
|
0.00001
|
NM_018475.5(TMEM165):c.376C>T (p.Arg126Cys)
|
rs387907222
|
0.00001
|
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter)
|
rs1227032564
|
0.00001
|
NM_025191.4(EDEM3):c.1407T>A (p.Tyr469Ter)
|
rs902837579
|
0.00001
|
NC_000001.10:g.(?_230203028)_(231413288_?)del
|
|
|
NC_000002.11:g.(?_72359356)_(74779761_?)del
|
|
|
NC_000002.12:g.(?_74461255)_(74465267_?)del
|
|
|
NC_000007.13:g.(?_106843961)_(107053097_?)del
|
|
|
NC_000007.13:g.(?_106897157)_(106938811_?)del
|
|
|
NC_000007.13:g.(?_106897157)_(107002885_?)del
|
|
|
NC_000007.13:g.(?_106921725)_(106924197_?)del
|
|
|
NC_000007.13:g.(?_106964865)_(106964986_?)del
|
|
|
NC_000007.13:g.(?_107002458)_(107002885_?)del
|
|
|
NC_000007.13:g.(?_107002458)_(107053097_?)del
|
|
|
NC_000007.13:g.(?_107002458)_(107204434_?)del
|
|
|
NC_000007.13:g.(?_107052927)_(107053097_?)del
|
|
|
NC_000007.13:g.(?_107167662)_(107167822_?)del
|
|
|
NC_000007.13:g.(?_107188536)_(107204434_?)del
|
|
|
NC_000007.13:g.(?_107204228)_(107204434_?)del
|
|
|
NC_000011.9:g.(?_45827353)_(47804770_?)del
|
|
|
NC_000016.10:g.(70426035_70473004)_(70512433_70519648)del
|
|
|
NC_000023.10:g.(?_48762413)_(48763384_?)del
|
|
|
NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn)
|
rs864309659
|
|
NM_001135146.2(SLC39A8):c.218dup (p.Cys74fs)
|
rs2149060093
|
|
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)
|
rs2134626266
|
|
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)
|
rs1182102272
|
|
NM_001282648.2(SLC35A2):c.-81_202+1del
|
|
|
NM_001497.4(B4GALT1):c.1031dup (p.Arg345fs)
|
rs1564035076
|
|
NM_001497.4(B4GALT1):c.579C>G (p.Tyr193Ter)
|
rs1840249855
|
|
NM_001745.4(CAMLG):c.633+4A>G
|
|
|
NM_002408.3(MGAT2):c.869C>T (p.Ser290Phe)
|
rs104894446
|
|
NM_002408.4(MGAT2):c.1017T>A (p.Cys339Ter)
|
rs104894449
|
|
NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn)
|
rs730882218
|
|
NM_002408.4(MGAT2):c.753dup (p.Ala252fs)
|
rs1566504935
|
|
NM_002408.4(MGAT2):c.785A>G (p.His262Arg)
|
rs104894447
|
|
NM_002408.4(MGAT2):c.799G>C (p.Asp267His)
|
rs1566505013
|
|
NM_002408.4(MGAT2):c.952A>G (p.Asn318Asp)
|
rs104894448
|
|
NM_004481.5(GALNT2):c.296dup (p.Tyr99Ter)
|
rs1663959543
|
|
NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser)
|
rs1663960324
|
|
NM_004481.5(GALNT2):c.598C>T (p.Arg200Ter)
|
rs1431963909
|
|
NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro)
|
rs376870425
|
|
NM_004481.5(GALNT2):c.865C>T (p.Gln289Ter)
|
rs1665467473
|
|
NM_005660.3(SLC35A2):c.136C>T (p.Gln46Ter)
|
rs2147496735
|
|
NM_005660.3(SLC35A2):c.1A>T (p.Met1Leu)
|
rs1042469070
|
|
NM_005660.3(SLC35A2):c.233A>G (p.Lys78Arg)
|
rs1569511572
|
|
NM_005660.3(SLC35A2):c.327T>G (p.Tyr109Ter)
|
rs2147489736
|
|
NM_005660.3(SLC35A2):c.340A>T (p.Lys114Ter)
|
rs2063491273
|
|
NM_005660.3(SLC35A2):c.348del (p.Val117fs)
|
rs1557043131
|
|
NM_005660.3(SLC35A2):c.385C>T (p.Gln129Ter)
|
rs2147489558
|
|
NM_005660.3(SLC35A2):c.3G>A (p.Met1Ile)
|
rs587776962
|
|
NM_005660.3(SLC35A2):c.426+1G>A
|
rs2147489491
|
|
NM_005660.3(SLC35A2):c.426+287_775del
|
rs1557042824
|
|
NM_005660.3(SLC35A2):c.433_434del (p.Tyr145fs)
|
rs587777434
|
|
NM_005660.3(SLC35A2):c.523C>T (p.Leu175Phe)
|
rs1283637638
|
|
NM_005660.3(SLC35A2):c.541A>G (p.Ile181Val)
|
|
|
NM_005660.3(SLC35A2):c.601del (p.Ala201fs)
|
rs2147487247
|
|
NM_005660.3(SLC35A2):c.617_620del (p.Val206fs)
|
rs1057518719
|
|
NM_005660.3(SLC35A2):c.634_635del (p.Ser212fs)
|
rs1602338615
|
|
NM_005660.3(SLC35A2):c.638C>T (p.Ser213Phe)
|
rs587777436
|
|
NM_005660.3(SLC35A2):c.656_660del (p.Val218_Tyr219insTer)
|
rs2147487028
|
|
NM_005660.3(SLC35A2):c.68dup (p.Leu23fs)
|
|
|
NM_005660.3(SLC35A2):c.696G>A (p.Trp232Ter)
|
rs868941656
|
|
NM_005660.3(SLC35A2):c.781del (p.Arg261fs)
|
rs2147486684
|
|
NM_005660.3(SLC35A2):c.832C>T (p.Gln278Ter)
|
|
|
NM_005660.3(SLC35A2):c.837_843del (p.Phe280fs)
|
rs2063479086
|
|
NM_005660.3(SLC35A2):c.923C>T (p.Ser308Phe)
|
|
|
NM_005660.3(SLC35A2):c.947_948del (p.Phe316fs)
|
rs2063477918
|
|
NM_005660.3(SLC35A2):c.972del (p.Phe324fs)
|
rs587777435
|
|
NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile)
|
rs587776961
|
|
NM_005660.3(SLC35A2):c.991_993del (p.Val331del)
|
rs2063477224
|
|
NM_005765.3(ATP6AP2):c.212G>A (p.Arg71His)
|
rs1057523485
|
|
NM_005765.3(ATP6AP2):c.293T>C (p.Leu98Ser)
|
rs1926621737
|
|
NM_006302.2(MOGS):c.[329G>A;65C>A]
|
|
|
NM_006302.3(MOGS):c.1142dup (p.Leu383fs)
|
|
|
NM_006302.3(MOGS):c.1204del (p.Ile402fs)
|
|
|
NM_006302.3(MOGS):c.1222del (p.Gln408fs)
|
|
|
NM_006302.3(MOGS):c.1385G>A (p.Trp462Ter)
|
rs886349456
|
|
NM_006302.3(MOGS):c.1421G>A (p.Trp474Ter)
|
|
|
NM_006302.3(MOGS):c.1457G>C (p.Arg486Thr)
|
rs121909291
|
|
NM_006302.3(MOGS):c.1513C>T (p.Gln505Ter)
|
|
|
NM_006302.3(MOGS):c.1954T>C (p.Phe652Leu)
|
rs121909292
|
|
NM_006302.3(MOGS):c.287G>A (p.Trp96Ter)
|
rs781577192
|
|
NM_006302.3(MOGS):c.422del (p.Asp141fs)
|
|
|
NM_006302.3(MOGS):c.54dup (p.Ala19fs)
|
|
|
NM_006302.3(MOGS):c.551G>A (p.Trp184Ter)
|
|
|
NM_006302.3(MOGS):c.832_833del (p.Lys278fs)
|
|
|
NM_006302.3(MOGS):c.881del (p.Pro294fs)
|
|
|
NM_006302.3(MOGS):c.94_95insTCCG (p.Gly32fs)
|
|
|
NM_006348.5(COG5):c.1015G>T (p.Glu339Ter)
|
|
|
NM_006348.5(COG5):c.1179G>A (p.Trp393Ter)
|
rs2116916717
|
|
NM_006348.5(COG5):c.1179del (p.Leu392_Trp393insTer)
|
|
|
NM_006348.5(COG5):c.1192C>T (p.Gln398Ter)
|
|
|
NM_006348.5(COG5):c.1197C>A (p.Tyr399Ter)
|
rs1186766555
|
|
NM_006348.5(COG5):c.1248T>G (p.Tyr416Ter)
|
|
|
NM_006348.5(COG5):c.1410dup (p.Pro471fs)
|
|
|
NM_006348.5(COG5):c.1415dup (p.Gly474fs)
|
rs773281248
|
|
NM_006348.5(COG5):c.1570C>T (p.Gln524Ter)
|
|
|
NM_006348.5(COG5):c.1576-15A>G
|
rs1562937199
|
|
NM_006348.5(COG5):c.1627C>T (p.Gln543Ter)
|
rs778187974
|
|
NM_006348.5(COG5):c.1791_1794del (p.Thr598fs)
|
rs771651520
|
|
NM_006348.5(COG5):c.2068C>T (p.Arg690Ter)
|
|
|
NM_006348.5(COG5):c.2167del (p.Arg723fs)
|
rs2116402799
|
|
NM_006348.5(COG5):c.220G>T (p.Glu74Ter)
|
rs1803451815
|
|
NM_006348.5(COG5):c.2234dup (p.Ser746fs)
|
rs2116202376
|
|
NM_006348.5(COG5):c.2242ATT[3] (p.Ile749dup)
|
rs751641438
|
|
NM_006348.5(COG5):c.2263A>T (p.Arg755Ter)
|
rs2116201860
|
|
NM_006348.5(COG5):c.237del (p.Val80fs)
|
rs1330009938
|
|
NM_006348.5(COG5):c.2425G>T (p.Glu809Ter)
|
rs1798520770
|
|
NM_006348.5(COG5):c.2T>G (p.Met1Arg)
|
rs375702393
|
|
NM_006348.5(COG5):c.463_467delinsCT (p.Ser155_Lys156delinsLeu)
|
rs1800843840
|
|
NM_006348.5(COG5):c.46C>T (p.Arg16Ter)
|
|
|
NM_006348.5(COG5):c.487C>T (p.Gln163Ter)
|
rs1231928102
|
|
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs)
|
rs1563018529
|
|
NM_006348.5(COG5):c.652C>T (p.Gln218Ter)
|
|
|
NM_006348.5(COG5):c.697C>T (p.Gln233Ter)
|
|
|
NM_006348.5(COG5):c.697del (p.Gln233fs)
|
|
|
NM_006348.5(COG5):c.729_730dup (p.Thr244fs)
|
rs1289836014
|
|
NM_006348.5(COG5):c.811C>T (p.Gln271Ter)
|
|
|
NM_006348.5(COG5):c.81del (p.Glu27fs)
|
rs777937112
|
|
NM_006348.5(COG5):c.832A>T (p.Arg278Ter)
|
|
|
NM_006348.5(COG5):c.936del (p.Val313fs)
|
|
|
NM_006348.5(COG5):c.961C>T (p.Gln321Ter)
|
rs370028534
|
|
NM_006348.5(COG5):c.96del (p.Cys33Valfs)
|
rs1554464495
|
|
NM_006416.4(SLC35A1):c.[147T>C;277delG;281delC]
|
|
|
NM_006416.5(SLC35A1):c.303G>C (p.Gln101His)
|
rs1554166294
|
|
NM_006416.5(SLC35A1):c.439T>C (p.Ser147Pro)
|
|
|
NM_006416.5(SLC35A1):c.467C>G (p.Thr156Arg)
|
rs578205635
|
|
NM_006416.5(SLC35A1):c.586G>A (p.Glu196Lys)
|
rs1554166844
|
|
NM_007357.3(COG2):c.1900T>G (p.Trp634Gly)
|
rs1085307117
|
|
NM_007357.3(COG2):c.260del (p.Gln87fs)
|
|
|
NM_007357.3(COG2):c.436dup (p.Ile146fs)
|
rs1031719032
|
|
NM_007357.3(COG2):c.701dup (p.Tyr234Ter)
|
rs1085307116
|
|
NM_015386.3(COG4):c.1255G>T (p.Glu419Ter)
|
rs2151749755
|
|
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg)
|
rs1555575860
|
|
NM_015386.3(COG4):c.1608del (p.Gly537fs)
|
|
|
NM_015386.3(COG4):c.2318T>G (p.Leu773Arg)
|
rs387907203
|
|
NM_015386.3(COG4):c.599_600del (p.Lys200fs)
|
rs2049726544
|
|
NM_015386.3(COG4):c.697G>T (p.Glu233Ter)
|
rs387907202
|
|
NM_015386.3(COG4):c.6del (p.Thr3fs)
|
rs937887233
|
|
NM_015386.3(COG4):c.73G>T (p.Gly25Ter)
|
rs1249789100
|
|
NM_015386.3(COG4):c.883G>T (p.Glu295Ter)
|
rs2151758219
|
|
NM_015949.3(GET4):c.837A>G (p.Ile279Met)
|
rs1844404490
|
|
NM_018389.5(SLC35C1):c.367del (p.Val123fs)
|
rs2085872592
|
|
NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys)
|
rs28939087
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_018389.5(SLC35C1):c.778C>T (p.Gln260Ter)
|
rs1470970903
|
|
NM_018389.5(SLC35C1):c.891T>A (p.Asn297Lys)
|
rs2134598310
|
|
NM_018389.5(SLC35C1):c.91G>T (p.Glu31Ter)
|
rs398124345
|
|
NM_018389.5(SLC35C1):c.923C>G (p.Thr308Arg)
|
rs28937886
|
|
NM_018475.5(TMEM165):c.377G>A (p.Arg126His)
|
rs387907221
|
|
NM_018475.5(TMEM165):c.747G>A (p.Trp249Ter)
|
|
|
NM_018475.5(TMEM165):c.910G>A (p.Gly304Arg)
|
rs886037631
|
|
NM_018714.3(COG1):c.1006C>T (p.Arg336Ter)
|
|
|
NM_018714.3(COG1):c.1070+5G>A
|
rs1568296260
|
|
NM_018714.3(COG1):c.1091del (p.Asn364fs)
|
|
|
NM_018714.3(COG1):c.1130del (p.Lys377fs)
|
rs2145097019
|
|
NM_018714.3(COG1):c.148C>T (p.Gln50Ter)
|
|
|
NM_018714.3(COG1):c.254dup (p.Tyr86fs)
|
|
|
NM_018714.3(COG1):c.2665dup (p.Arg889fs)
|
rs747606976
|
|
NM_018714.3(COG1):c.2686C>T (p.Gln896Ter)
|
|
|
NM_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_020751.3(COG6):c.1239dup (p.Phe414fs)
|
rs1555277827
|
|
NM_020751.3(COG6):c.153+392A>G
|
|
|
NM_020751.3(COG6):c.1646G>T (p.Gly549Val)
|
rs387906959
|
|
NM_020751.3(COG6):c.1672C>T (p.Gln558Ter)
|
|
|
NM_020751.3(COG6):c.1746+2T>G
|
rs1555280464
|
|
NM_020751.3(COG6):c.1884T>G (p.Tyr628Ter)
|
|
|
NM_020751.3(COG6):c.1A>G (p.Met1Val)
|
rs752232501
|
|
NM_020751.3(COG6):c.252del (p.Ala85fs)
|
rs2137942150
|
|
NM_020751.3(COG6):c.388C>T (p.Gln130Ter)
|
rs1259563970
|
|
NM_020751.3(COG6):c.651_654del (p.Leu217fs)
|
|
|
NM_020751.3(COG6):c.726del (p.Cys242fs)
|
rs1593421620
|
|
NM_020751.3(COG6):c.785A>G (p.Tyr262Cys)
|
rs756826030
|
|
NM_022154.5(SLC39A8):c.[1019T>A];[112G>C]
|
|
|
NM_022154.5(SLC39A8):c.[97G>A;1004G>C]
|
|
|
NM_022154.5(SLC39A8):c.[97G>A;1004G>C];[c.610G>T]
|
|
|
NM_025191.4(EDEM3):c.1366G>A (p.Asp456Asn)
|
rs2102081233
|
|
NM_025191.4(EDEM3):c.1369del (p.Arg457fs)
|
rs2102081225
|
|
NM_025191.4(EDEM3):c.1382_1385del (p.Phe461fs)
|
rs1650312698
|
|
NM_025191.4(EDEM3):c.1859del (p.Ile620fs)
|
rs2102068802
|
|
NM_025191.4(EDEM3):c.2001dup (p.Ala668fs)
|
rs1650036294
|
|
NM_025191.4(EDEM3):c.853+1G>T
|
rs2102093642
|
|
NM_025191.4(EDEM3):c.940A>T (p.Arg314Ter)
|
rs2102089507
|
|
NM_031431.4(COG3):c.109G>C (p.Asp37His)
|
|
|
NM_031431.4(COG3):c.124T>C (p.Ser42Pro)
|
|
|
NM_032357.4(CCDC115):c.31G>T (p.Asp11Tyr)
|
rs869025583
|
|
NM_032382.5(COG8):c.1413+1G>A
|
rs1264383808
|
|
NM_032382.5(COG8):c.1550_1556del (p.Leu517fs)
|
rs2143335414
|
|
NM_032382.5(COG8):c.1583-1G>A
|
rs1287837570
|
|
NM_032382.5(COG8):c.1611C>G (p.Tyr537Ter)
|
rs121434387
|
|
NM_032382.5(COG8):c.1680_1681del (p.Glu560fs)
|
rs780534334
|
|
NM_032382.5(COG8):c.1687_1688del (p.Phe563fs)
|
rs766244312
|
|
NM_152464.3(TMEM199):c.20C>A (p.Ala7Glu)
|
rs369488804
|
|
NM_152464.3(TMEM199):c.376-1G>A
|
rs869025587
|
|
NM_152464.3(TMEM199):c.40G>C (p.Ala14Pro)
|
rs869025586
|
|
NM_153603.4(COG7):c.1476-1G>T
|
rs1555493029
|
|
NM_153603.4(COG7):c.1498dup (p.Tyr500fs)
|
|
|
NM_153603.4(COG7):c.169+4A>C
|
rs1555497568
|
|
NM_153603.4(COG7):c.170-7A>G
|
rs1555496968
|
|
NM_153603.4(COG7):c.1784T>A (p.Leu595Ter)
|
|
|
NM_153603.4(COG7):c.1A>G (p.Met1Val)
|
rs1051352713
|
|
NM_181581.3(DUS4L):c.-339_-338del
|
rs1049832940
|
|
SLC35A2:c.15_91+48delinsA
|
rs1557044030
|
|