ClinVar Miner

List of variants reported as uncertain significance for cobblestone lissencephaly by Invitae

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 599
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HGVS dbSNP
NC_000001.10:g.(?_235613501)_(235667572_?)dup
NC_000001.10:g.(?_235613511)_(235667562_?)dup
NC_000003.11:g.(?_43121161)_(43122943_?)dup
NC_000007.13:g.(?_16131310)_(16131434_?)del
NC_000007.13:g.(?_16255671)_(16255842_?)del
NC_000007.13:g.(?_16255681)_(16255832_?)del
NC_000008.10:g.(?_42693095)_(42978030_?)dup
NC_000008.10:g.(?_42958672)_(42978040_?)dup
NC_000008.10:g.(?_42958682)_(42978030_?)dup
NC_000009.11:g.(?_108337304)_(108358948_?)dup
NC_000012.11:g.(?_64198994)_(64199204_?)dup
NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser) rs369832637
NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr)
NM_001101426.4(CRPPA):c.13C>T (p.Pro5Ser) rs1037010291
NM_001101426.4(CRPPA):c.160G>T (p.Gly54Trp)
NM_001101426.4(CRPPA):c.193C>A (p.Pro65Thr)
NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro) rs886043637
NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr) rs1292380177
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val) rs762370550
NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile) rs199691459
NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln) rs1356080750
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg) rs202108204
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293
NM_001101426.4(CRPPA):c.614G>A (p.Arg205His)
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp) rs1008210645
NM_001101426.4(CRPPA):c.640C>A (p.Pro214Thr)
NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys)
NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu) rs770257307
NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu) rs369193825
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) rs200334999
NM_001101426.4(CRPPA):c.816G>A (p.Ala272=) rs754348253
NM_001101426.4(CRPPA):c.836-5T>G
NM_001101426.4(CRPPA):c.847C>G (p.Gln283Glu) rs750477422
NM_001101426.4(CRPPA):c.874_875delinsAG (p.Glu292Arg)
NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly) rs547473863
NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg) rs373890080
NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly) rs370397489
NM_001101426.4(CRPPA):c.933+3A>G rs377582530
NM_001101426.4(CRPPA):c.985C>A (p.Gln329Lys) rs202126749
NM_001101426.4(CRPPA):c.990C>G (p.Ile330Met)
NM_001165928.3(DAG1):c.1022C>T (p.Thr341Ile) rs148759919
NM_001165928.3(DAG1):c.1046C>T (p.Pro349Leu) rs200233956
NM_001165928.3(DAG1):c.1051A>G (p.Thr351Ala) rs376991799
NM_001165928.3(DAG1):c.1100C>T (p.Thr367Met)
NM_001165928.3(DAG1):c.1182C>T (p.Gly394=)
NM_001165928.3(DAG1):c.1186A>G (p.Thr396Ala) rs779846682
NM_001165928.3(DAG1):c.1210A>G (p.Thr404Ala) rs769229834
NM_001165928.3(DAG1):c.1215G>A (p.Met405Ile) rs141238609
NM_001165928.3(DAG1):c.1280C>T (p.Pro427Leu) rs770985285
NM_001165928.3(DAG1):c.1306A>G (p.Thr436Ala) rs149838438
NM_001165928.3(DAG1):c.1307C>T (p.Thr436Met) rs143573515
NM_001165928.3(DAG1):c.1360C>T (p.Arg454Trp) rs369872091
NM_001165928.3(DAG1):c.1369C>T (p.Arg457Trp)
NM_001165928.3(DAG1):c.1487G>T (p.Arg496Leu) rs199519832
NM_001165928.3(DAG1):c.1489C>G (p.Pro497Ala) rs376508721
NM_001165928.3(DAG1):c.148A>G (p.Met50Val) rs758104540
NM_001165928.3(DAG1):c.1492_1494del (p.Glu498del) rs1553653093
NM_001165928.3(DAG1):c.1535C>T (p.Thr512Ile) rs527867946
NM_001165928.3(DAG1):c.1543G>A (p.Glu515Lys)
NM_001165928.3(DAG1):c.1690C>A (p.Leu564Ile) rs199894361
NM_001165928.3(DAG1):c.1705C>T (p.His569Tyr) rs1559579950
NM_001165928.3(DAG1):c.1757C>T (p.Ser586Leu) rs371990100
NM_001165928.3(DAG1):c.1826A>G (p.Lys609Arg) rs200798800
NM_001165928.3(DAG1):c.1829C>T (p.Ala610Val)
NM_001165928.3(DAG1):c.1847C>T (p.Pro616Leu)
NM_001165928.3(DAG1):c.185C>T (p.Pro62Leu) rs375938350
NM_001165928.3(DAG1):c.1883_1887delinsACTTT (p.Ala628_Leu629delinsAspPhe) rs1559580384
NM_001165928.3(DAG1):c.193G>A (p.Val65Ile) rs757379579
NM_001165928.3(DAG1):c.1966G>A (p.Val656Met) rs1313375346
NM_001165928.3(DAG1):c.1977G>A (p.Trp659Ter) rs1553653437
NM_001165928.3(DAG1):c.2001G>T (p.Glu667Asp)
NM_001165928.3(DAG1):c.2023G>A (p.Ala675Thr)
NM_001165928.3(DAG1):c.2044G>A (p.Ala682Thr)
NM_001165928.3(DAG1):c.2100T>G (p.Phe700Leu) rs141697036
NM_001165928.3(DAG1):c.2123C>T (p.Thr708Met)
NM_001165928.3(DAG1):c.2124G>A (p.Thr708=)
NM_001165928.3(DAG1):c.212C>A (p.Thr71Lys)
NM_001165928.3(DAG1):c.2141G>A (p.Arg714Gln) rs201488118
NM_001165928.3(DAG1):c.2245G>A (p.Val749Ile) rs1559581311
NM_001165928.3(DAG1):c.2303G>T (p.Gly768Val) rs1553653701
NM_001165928.3(DAG1):c.2326C>T (p.Arg776Cys) rs752441031
NM_001165928.3(DAG1):c.2336G>A (p.Arg779Gln)
NM_001165928.3(DAG1):c.2342G>A (p.Gly781Asp)
NM_001165928.3(DAG1):c.2366C>T (p.Ala789Val) rs1426926145
NM_001165928.3(DAG1):c.23C>T (p.Ser8Leu)
NM_001165928.3(DAG1):c.2431C>T (p.Pro811Ser) rs368597067
NM_001165928.3(DAG1):c.244A>G (p.Ile82Val) rs141706514
NM_001165928.3(DAG1):c.2479C>T (p.Pro827Ser)
NM_001165928.3(DAG1):c.2512G>A (p.Glu838Lys)
NM_001165928.3(DAG1):c.2536A>C (p.Thr846Pro)
NM_001165928.3(DAG1):c.2552C>T (p.Thr851Met)
NM_001165928.3(DAG1):c.2561G>A (p.Arg854Gln) rs199933395
NM_001165928.3(DAG1):c.2576A>G (p.Asn859Ser) rs754079735
NM_001165928.3(DAG1):c.2588A>G (p.Tyr863Cys) rs1436774690
NM_001165928.3(DAG1):c.2635C>T (p.Arg879Cys)
NM_001165928.3(DAG1):c.268A>G (p.Ser90Gly) rs140454570
NM_001165928.3(DAG1):c.424G>A (p.Gly142Arg) rs749962207
NM_001165928.3(DAG1):c.496T>G (p.Ser166Ala) rs1421891404
NM_001165928.3(DAG1):c.576G>A (p.Thr192=)
NM_001165928.3(DAG1):c.613A>G (p.Lys205Glu) rs145871499
NM_001165928.3(DAG1):c.623T>C (p.Ile208Thr) rs772976299
NM_001165928.3(DAG1):c.634C>A (p.His212Asn) rs146574353
NM_001165928.3(DAG1):c.712A>G (p.Met238Val)
NM_001165928.3(DAG1):c.735G>A (p.Pro245=) rs748164001
NM_001165928.3(DAG1):c.751del (p.Val251fs)
NM_001165928.3(DAG1):c.829G>A (p.Val277Ile) rs375892170
NM_001165928.3(DAG1):c.854C>T (p.Ala285Val)
NM_001165928.3(DAG1):c.902A>G (p.Asn301Ser)
NM_001165928.3(DAG1):c.928G>A (p.Val310Ile)
NM_001165928.3(DAG1):c.932G>A (p.Arg311Gln) rs752813826
NM_001165928.3(DAG1):c.965C>T (p.Thr322Ile) rs376602004
NM_006731.2(FKTN):c.1046T>C (p.Val349Ala) rs539089647
NM_006731.2(FKTN):c.1056C>G (p.Ser352Arg) rs149085844
NM_006731.2(FKTN):c.1086T>A (p.Asp362Glu)
NM_006731.2(FKTN):c.10A>C (p.Ile4Leu) rs757900916
NM_006731.2(FKTN):c.1129A>G (p.Met377Val) rs1200757732
NM_006731.2(FKTN):c.1135A>G (p.Asn379Asp)
NM_006731.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262
NM_006731.2(FKTN):c.1174T>C (p.Tyr392His)
NM_006731.2(FKTN):c.1178T>C (p.Leu393Pro) rs374962879
NM_006731.2(FKTN):c.1205C>T (p.Thr402Ile)
NM_006731.2(FKTN):c.124A>G (p.Lys42Glu)
NM_006731.2(FKTN):c.1250A>T (p.Glu417Val) rs543684877
NM_006731.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)
NM_006731.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445
NM_006731.2(FKTN):c.1298C>T (p.Thr433Met)
NM_006731.2(FKTN):c.12C>G (p.Ile4Met)
NM_006731.2(FKTN):c.1315_1316TC[3] (p.Pro440fs) rs886042778
NM_006731.2(FKTN):c.1319C>T (p.Pro440Leu) rs1564357396
NM_006731.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618
NM_006731.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_006731.2(FKTN):c.1371_1381dup (p.Tyr461fs) rs727502847
NM_006731.2(FKTN):c.13A>G (p.Asn5Asp)
NM_006731.2(FKTN):c.140G>A (p.Arg47Gln)
NM_006731.2(FKTN):c.14A>G (p.Asn5Ser)
NM_006731.2(FKTN):c.170C>T (p.Ala57Val) rs1554751104
NM_006731.2(FKTN):c.220C>A (p.Leu74Ile) rs1060501407
NM_006731.2(FKTN):c.22G>A (p.Val8Met)
NM_006731.2(FKTN):c.22G>T (p.Val8Leu) rs368981218
NM_006731.2(FKTN):c.292A>G (p.Thr98Ala)
NM_006731.2(FKTN):c.293C>G (p.Thr98Ser) rs376452959
NM_006731.2(FKTN):c.293C>T (p.Thr98Ile) rs376452959
NM_006731.2(FKTN):c.29T>C (p.Leu10Ser)
NM_006731.2(FKTN):c.300A>G (p.Gln100=)
NM_006731.2(FKTN):c.34C>G (p.Leu12Val) rs939985733
NM_006731.2(FKTN):c.369+4A>G
NM_006731.2(FKTN):c.369+6T>G rs1554751423
NM_006731.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_006731.2(FKTN):c.382C>T (p.Arg128Trp) rs767026996
NM_006731.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441
NM_006731.2(FKTN):c.397A>G (p.Met133Val) rs569778463
NM_006731.2(FKTN):c.400G>A (p.Gly134Arg) rs1554752862
NM_006731.2(FKTN):c.41C>T (p.Thr14Met) rs149033995
NM_006731.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939
NM_006731.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690
NM_006731.2(FKTN):c.482A>G (p.His161Arg) rs727502848
NM_006731.2(FKTN):c.489C>G (p.Ile163Met) rs980208971
NM_006731.2(FKTN):c.511A>T (p.Ile171Phe)
NM_006731.2(FKTN):c.545A>G (p.Asn182Ser)
NM_006731.2(FKTN):c.556C>T (p.His186Tyr)
NM_006731.2(FKTN):c.569G>A (p.Arg190Lys)
NM_006731.2(FKTN):c.584T>C (p.Ile195Thr)
NM_006731.2(FKTN):c.586G>T (p.Asp196Tyr) rs756748012
NM_006731.2(FKTN):c.58T>G (p.Phe20Val) rs1554731003
NM_006731.2(FKTN):c.623G>A (p.Gly208Asp) rs778048703
NM_006731.2(FKTN):c.643G>C (p.Asp215His) rs745975808
NM_006731.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195
NM_006731.2(FKTN):c.719_721AAG[1] (p.Glu241del) rs1437925297
NM_006731.2(FKTN):c.780G>A (p.Gln260=) rs1459814015
NM_006731.2(FKTN):c.787C>G (p.Leu263Val)
NM_006731.2(FKTN):c.7A>G (p.Arg3Gly) rs1037406947
NM_006731.2(FKTN):c.802G>T (p.Val268Leu) rs878854165
NM_006731.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116
NM_006731.2(FKTN):c.822G>T (p.Arg274=) rs997235832
NM_006731.2(FKTN):c.83A>G (p.Tyr28Cys) rs374203636
NM_006731.2(FKTN):c.854C>T (p.Ala285Val) rs137951613
NM_006731.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516
NM_006731.2(FKTN):c.877G>C (p.Val293Leu)
NM_006731.2(FKTN):c.885C>G (p.Phe295Leu) rs1564319328
NM_006731.2(FKTN):c.905G>A (p.Cys302Tyr) rs1554757939
NM_006731.2(FKTN):c.919C>G (p.Arg307Gly) rs267606814
NM_006731.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304
NM_006731.2(FKTN):c.92A>G (p.Tyr31Cys)
NM_006731.2(FKTN):c.938C>T (p.Pro313Leu)
NM_006731.2(FKTN):c.941A>G (p.Tyr314Cys) rs1451453111
NM_006731.2(FKTN):c.952G>A (p.Val318Ile) rs141120187
NM_006876.3(B4GAT1):c.1009A>T (p.Thr337Ser) rs1555016408
NM_006876.3(B4GAT1):c.1022G>A (p.Arg341His)
NM_006876.3(B4GAT1):c.1056+6C>G rs1555016387
NM_006876.3(B4GAT1):c.1136C>G (p.Ala379Gly) rs1012499887
NM_006876.3(B4GAT1):c.1146C>G (p.Phe382Leu) rs143223962
NM_006876.3(B4GAT1):c.170A>C (p.Asp57Ala) rs1555016653
NM_006876.3(B4GAT1):c.173A>G (p.Gln58Arg) rs1555016650
NM_006876.3(B4GAT1):c.220G>A (p.Asp74Asn) rs746966446
NM_006876.3(B4GAT1):c.226A>G (p.Ser76Gly) rs1085307691
NM_006876.3(B4GAT1):c.278A>G (p.Asn93Ser) rs1332907515
NM_006876.3(B4GAT1):c.355C>A (p.Pro119Thr)
NM_006876.3(B4GAT1):c.37C>T (p.Gln13Ter)
NM_006876.3(B4GAT1):c.415G>T (p.Ala139Ser) rs1565209689
NM_006876.3(B4GAT1):c.447G>C (p.Met149Ile)
NM_006876.3(B4GAT1):c.460G>T (p.Ala154Ser) rs1555016589
NM_006876.3(B4GAT1):c.485G>A (p.Arg162His) rs1565209634
NM_006876.3(B4GAT1):c.511C>A (p.Arg171=)
NM_006876.3(B4GAT1):c.514G>C (p.Glu172Gln)
NM_006876.3(B4GAT1):c.521G>T (p.Gly174Val)
NM_006876.3(B4GAT1):c.582G>C (p.Gln194His) rs377415983
NM_006876.3(B4GAT1):c.665A>G (p.Tyr222Cys) rs113570160
NM_006876.3(B4GAT1):c.688A>G (p.Met230Val)
NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser)
NM_006876.3(B4GAT1):c.980C>A (p.Pro327Gln) rs1555016420
NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu)
NM_007171.3(POMT1):c.1052+5G>A rs370096853
NM_007171.3(POMT1):c.1150C>A (p.His384Asn) rs141229412
NM_007171.3(POMT1):c.1183G>C (p.Val395Leu) rs200508760
NM_007171.3(POMT1):c.1216G>A (p.Gly406Ser) rs146234177
NM_007171.3(POMT1):c.122+5G>A rs376753193
NM_007171.3(POMT1):c.1228C>T (p.Arg410Cys) rs748087053
NM_007171.3(POMT1):c.1229G>A (p.Arg410His)
NM_007171.3(POMT1):c.1259C>T (p.Pro420Leu) rs776388419
NM_007171.3(POMT1):c.1295T>C (p.Ile432Thr) rs1554778053
NM_007171.3(POMT1):c.1396C>T (p.Arg466Cys) rs752384050
NM_007171.3(POMT1):c.1415C>A (p.Thr472Asn)
NM_007171.3(POMT1):c.1457G>C (p.Trp486Ser) rs746849558
NM_007171.3(POMT1):c.151A>T (p.Ile51Phe) rs886044651
NM_007171.3(POMT1):c.1546G>A (p.Gly516Ser) rs200204923
NM_007171.3(POMT1):c.154T>C (p.Ser52Pro) rs1554771665
NM_007171.3(POMT1):c.1606G>A (p.Val536Ile)
NM_007171.3(POMT1):c.1621A>G (p.Ser541Gly) rs1564381465
NM_007171.3(POMT1):c.1664C>T (p.Ala555Val) rs199682341
NM_007171.3(POMT1):c.1724T>C (p.Leu575Pro)
NM_007171.3(POMT1):c.1771A>C (p.Ile591Leu)
NM_007171.3(POMT1):c.1793T>C (p.Val598Ala) rs144338642
NM_007171.3(POMT1):c.1801G>C (p.Val601Leu)
NM_007171.3(POMT1):c.1829A>G (p.Tyr610Cys) rs772131719
NM_007171.3(POMT1):c.1859G>A (p.Arg620Gln) rs202140413
NM_007171.3(POMT1):c.1861C>T (p.Arg621Trp) rs150899645
NM_007171.3(POMT1):c.1862G>A (p.Arg621Gln) rs367709136
NM_007171.3(POMT1):c.1889A>G (p.Gln630Arg) rs145021255
NM_007171.3(POMT1):c.1933G>A (p.Gly645Ser) rs756303645
NM_007171.3(POMT1):c.197C>T (p.Pro66Leu) rs757903559
NM_007171.3(POMT1):c.2069+4C>T rs766635497
NM_007171.3(POMT1):c.2093T>C (p.Phe698Ser) rs1201402718
NM_007171.3(POMT1):c.2125G>A (p.Ala709Thr) rs535544133
NM_007171.3(POMT1):c.2133C>A (p.His711Gln) rs141895982
NM_007171.3(POMT1):c.2149C>T (p.Arg717Cys)
NM_007171.3(POMT1):c.2150G>A (p.Arg717His)
NM_007171.3(POMT1):c.2156T>A (p.Leu719His)
NM_007171.3(POMT1):c.2163C>A (p.Tyr721Ter) rs138902646
NM_007171.3(POMT1):c.2167G>T (p.Asp723Tyr)
NM_007171.3(POMT1):c.2189A>T (p.Glu730Val)
NM_007171.3(POMT1):c.2204G>A (p.Arg735His) rs938573554
NM_007171.3(POMT1):c.2233C>T (p.Arg745Ter) rs202202445
NM_007171.3(POMT1):c.328C>T (p.Leu110Phe) rs1338443127
NM_007171.3(POMT1):c.332C>T (p.Ala111Val) rs371531181
NM_007171.3(POMT1):c.367G>T (p.Val123Leu)
NM_007171.3(POMT1):c.389A>C (p.His130Pro) rs752880907
NM_007171.3(POMT1):c.401T>C (p.Met134Thr)
NM_007171.3(POMT1):c.424A>T (p.Ile142Phe) rs141833028
NM_007171.3(POMT1):c.426C>T (p.Ile142=) rs771390000
NM_007171.3(POMT1):c.488A>G (p.Asn163Ser) rs182295674
NM_007171.3(POMT1):c.586G>A (p.Ala196Thr) rs199498900
NM_007171.3(POMT1):c.629C>T (p.Thr210Met) rs377037072
NM_007171.3(POMT1):c.698A>G (p.Asn233Ser) rs139774354
NM_007171.3(POMT1):c.790G>A (p.Ala264Thr) rs779771679
NM_007171.3(POMT1):c.823G>A (p.Val275Ile) rs772590277
NM_007171.3(POMT1):c.855G>C (p.Leu285Phe) rs201073763
NM_007171.3(POMT1):c.869G>A (p.Arg290His) rs369644530
NM_007171.3(POMT1):c.934C>T (p.Arg312Trp) rs886042627
NM_007171.3(POMT1):c.994G>A (p.Val332Ile) rs190112934
NM_013334.3(GMPPB):c.287_307del (p.Leu96_Asp102del) rs1559697587
NM_013334.3(GMPPB):c.458C>T (p.Thr153Ile)
NM_013334.3(GMPPB):c.607_609del (p.Lys203del) rs1553691853
NM_013334.3(GMPPB):c.931C>T (p.Arg311Cys) rs371188899
NM_013334.3(GMPPB):c.95C>T (p.Pro32Leu) rs397509426
NM_013382.5(POMT2):c.1006+4_1006+7del
NM_013382.5(POMT2):c.1012G>A (p.Ala338Thr) rs771636400
NM_013382.5(POMT2):c.1030A>C (p.Thr344Pro) rs1285454398
NM_013382.5(POMT2):c.1042C>G (p.Leu348Val) rs1158227625
NM_013382.5(POMT2):c.1094G>A (p.Gly365Asp)
NM_013382.5(POMT2):c.1124C>T (p.Thr375Ile)
NM_013382.5(POMT2):c.1141T>C (p.Tyr381His) rs369489033
NM_013382.5(POMT2):c.1142A>G (p.Tyr381Cys)
NM_013382.5(POMT2):c.1186C>T (p.Pro396Ser) rs764723711
NM_013382.5(POMT2):c.1223A>G (p.His408Arg)
NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg) rs147268052
NM_013382.5(POMT2):c.1261C>T rs727502855
NM_013382.5(POMT2):c.1274G>C (p.Ser425Thr)
NM_013382.5(POMT2):c.1282_1284del (p.His428del)
NM_013382.5(POMT2):c.128A>G (p.Lys43Arg) rs745417690
NM_013382.5(POMT2):c.1300C>T (p.Arg434Trp)
NM_013382.5(POMT2):c.133C>T (p.Pro45Ser)
NM_013382.5(POMT2):c.134C>G (p.Pro45Arg) rs753037500
NM_013382.5(POMT2):c.1396C>T (p.Arg466Trp) rs763119319
NM_013382.5(POMT2):c.1397G>A (p.Arg466Gln) rs138266415
NM_013382.5(POMT2):c.1424G>A (p.Arg475His)
NM_013382.5(POMT2):c.1467A>T (p.Gly489=) rs1555352583
NM_013382.5(POMT2):c.148C>G (p.Arg50Gly) rs550420394
NM_013382.5(POMT2):c.14C>G (p.Thr5Arg)
NM_013382.5(POMT2):c.1540T>A (p.Ser514Thr) rs1566647081
NM_013382.5(POMT2):c.1552G>A (p.Val518Met) rs200762716
NM_013382.5(POMT2):c.1604A>T (p.Gln535Leu)
NM_013382.5(POMT2):c.160G>T (p.Ala54Ser) rs1239345534
NM_013382.5(POMT2):c.1645A>G (p.Met549Val) rs1555352401
NM_013382.5(POMT2):c.1651C>T (p.Arg551Trp) rs751153662
NM_013382.5(POMT2):c.1653+4T>G
NM_013382.5(POMT2):c.1654-8T>G rs780532724
NM_013382.5(POMT2):c.1691C>T (p.Thr564Met) rs142445941
NM_013382.5(POMT2):c.1711C>T (p.Pro571Ser) rs771812476
NM_013382.5(POMT2):c.1732C>T (p.Arg578Cys) rs148466370
NM_013382.5(POMT2):c.1790T>C (p.Val597Ala) rs1171196217
NM_013382.5(POMT2):c.1828C>T (p.Leu610Phe) rs1555351859
NM_013382.5(POMT2):c.1857G>C (p.Met619Ile)
NM_013382.5(POMT2):c.1871G>A (p.Arg624Gln) rs369365744
NM_013382.5(POMT2):c.1903G>A (p.Val635Ile) rs142299878
NM_013382.5(POMT2):c.1920C>T (p.Gly640=) rs150755807
NM_013382.5(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.5(POMT2):c.1975C>T (p.Arg659Trp)
NM_013382.5(POMT2):c.2085_2086delinsTT (p.Trp695_Pro696delinsCysSer) rs1566642523
NM_013382.5(POMT2):c.2087C>T (p.Pro696Leu) rs1449000965
NM_013382.5(POMT2):c.2111C>T (p.Ala704Val)
NM_013382.5(POMT2):c.2148-6T>A rs1242617887
NM_013382.5(POMT2):c.2182G>A (p.Val728Ile) rs1367401943
NM_013382.5(POMT2):c.2228G>T (p.Arg743Met) rs767359121
NM_013382.5(POMT2):c.2242T>C (p.Trp748Arg) rs267606964
NM_013382.5(POMT2):c.2251T>C (p.Ter751Arg)
NM_013382.5(POMT2):c.229G>A (p.Asp77Asn) rs200992827
NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.5(POMT2):c.242A>G (p.His81Arg)
NM_013382.5(POMT2):c.293A>G (p.Asn98Ser) rs368034790
NM_013382.5(POMT2):c.295C>T (p.Arg99Cys) rs199719668
NM_013382.5(POMT2):c.29C>T (p.Ala10Val) rs183558313
NM_013382.5(POMT2):c.320C>T (p.Pro107Leu) rs398124264
NM_013382.5(POMT2):c.322C>T (p.Pro108Ser) rs1555355402
NM_013382.5(POMT2):c.344G>C (p.Gly115Ala)
NM_013382.5(POMT2):c.346C>T (p.Leu116Phe)
NM_013382.5(POMT2):c.416A>G (p.His139Arg)
NM_013382.5(POMT2):c.47C>G (p.Pro16Arg) rs778898705
NM_013382.5(POMT2):c.50G>A (p.Arg17Gln)
NM_013382.5(POMT2):c.50G>C (p.Arg17Pro) rs753326186
NM_013382.5(POMT2):c.586G>A (p.Asp196Asn) rs1200584567
NM_013382.5(POMT2):c.599T>C (p.Met200Thr)
NM_013382.5(POMT2):c.621G>A (p.Met207Ile) rs551885065
NM_013382.5(POMT2):c.640A>C (p.Asn214His)
NM_013382.5(POMT2):c.642C>A (p.Asn214Lys)
NM_013382.5(POMT2):c.656+3C>G rs561052172
NM_013382.5(POMT2):c.658C>T (p.Pro220Ser)
NM_013382.5(POMT2):c.685C>T (p.Leu229Phe)
NM_013382.5(POMT2):c.825G>A (p.Val275=) rs779272258
NM_013382.5(POMT2):c.845G>A (p.Arg282His)
NM_013382.5(POMT2):c.884C>G (p.Thr295Arg)
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997
NM_014254.3(RXYLT1):c.1019_1020delinsTT (p.Arg340Leu) rs397514544
NM_014254.3(RXYLT1):c.1088G>A (p.Gly363Glu) rs1003835285
NM_014254.3(RXYLT1):c.1091A>C (p.Asn364Thr) rs144060489
NM_014254.3(RXYLT1):c.1103A>C (p.His368Pro) rs1565908832
NM_014254.3(RXYLT1):c.1105del (p.His369fs) rs759632078
NM_014254.3(RXYLT1):c.113G>A (p.Gly38Glu) rs376486641
NM_014254.3(RXYLT1):c.1147_1152TTTATC[1] (p.383_384FI[1])
NM_014254.3(RXYLT1):c.146C>G (p.Pro49Arg) rs1555225874
NM_014254.3(RXYLT1):c.159A>T (p.Arg53Ser)
NM_014254.3(RXYLT1):c.163G>C (p.Gly55Arg) rs1565897565
NM_014254.3(RXYLT1):c.17A>G (p.Lys6Arg) rs145516652
NM_014254.3(RXYLT1):c.184G>A (p.Glu62Lys) rs200250516
NM_014254.3(RXYLT1):c.246A>C (p.Lys82Asn) rs1555225967
NM_014254.3(RXYLT1):c.267T>A (p.Asp89Glu)
NM_014254.3(RXYLT1):c.268A>G (p.Lys90Glu)
NM_014254.3(RXYLT1):c.373G>C (p.Asp125His) rs188655071
NM_014254.3(RXYLT1):c.533C>G (p.Thr178Ser)
NM_014254.3(RXYLT1):c.56T>C (p.Phe19Ser) rs375086772
NM_014254.3(RXYLT1):c.604G>A (p.Gly202Arg)
NM_014254.3(RXYLT1):c.914+6T>G rs748809209
NM_014254.3(RXYLT1):c.920A>G (p.Gln307Arg) rs866198592
NM_021971.2(GMPPB):c.1009T>C (p.Tyr337His) rs1553691683
NM_021971.2(GMPPB):c.1077C>G (p.Ile359Met) rs1553691662
NM_021971.2(GMPPB):c.215G>A (p.Gly72Glu) rs1245162935
NM_021971.2(GMPPB):c.218T>C (p.Ile73Thr) rs1553692045
NM_021971.2(GMPPB):c.331G>A (p.Val111Met) rs141201072
NM_021971.2(GMPPB):c.374G>A (p.Arg125Gln) rs758366693
NM_021971.2(GMPPB):c.525G>T (p.Met175Ile)
NM_021971.2(GMPPB):c.569C>G (p.Pro190Arg) rs1559697016
NM_021971.2(GMPPB):c.629T>C (p.Met210Thr)
NM_021971.2(GMPPB):c.62C>A (p.Thr21Asn) rs1438380704
NM_021971.2(GMPPB):c.758A>G (p.Asn253Ser) rs1559696765
NM_021971.2(GMPPB):c.792G>C (p.Gln264His) rs1559696652
NM_021971.2(GMPPB):c.831C>T (p.Gly277=) rs763262592
NM_021971.2(GMPPB):c.877C>T (p.Arg293Trp) rs756682220
NM_021971.2(GMPPB):c.878G>A (p.Arg293Gln) rs748809549
NM_021971.2(GMPPB):c.953T>C (p.Val318Ala)
NM_021971.2(GMPPB):c.955C>T (p.Arg319Cys)
NM_021971.2(GMPPB):c.956G>A (p.Arg319His) rs768327938
NM_021971.2:c.116A>G
NM_021971.2:c.160A>C
NM_021971.2:c.304G>C
NM_021971.2:c.395C>G
NM_021971.2:c.473G>C
NM_021971.2:c.757A>G
NM_021971.2:c.812A>G
NM_021971.2:c.863G>C
NM_021971.2:c.937C>T
NM_021971.2:c.94C>T
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) rs776947530
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) rs1322997651
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195
NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr) rs1555739020
NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu)
NM_024301.5(FKRP):c.113G>A (p.Gly38Glu)
NM_024301.5(FKRP):c.1141G>C (p.Ala381Pro) rs1031408738
NM_024301.5(FKRP):c.1174T>A (p.Phe392Ile) rs1269819838
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser) rs771333733
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu) rs201497063
NM_024301.5(FKRP):c.1236C>G (p.His412Gln)
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) rs769568971
NM_024301.5(FKRP):c.1291A>G (p.Thr431Ala) rs1060502112
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp) rs144236975
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)
NM_024301.5(FKRP):c.1397G>A (p.Arg466His)
NM_024301.5(FKRP):c.13C>T (p.Arg5Cys) rs1060502108
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800
NM_024301.5(FKRP):c.1436A>G (p.Glu479Gly) rs1555739297
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile) rs369666163
NM_024301.5(FKRP):c.1441C>G (p.Pro481Ala) rs745774108
NM_024301.5(FKRP):c.1442C>A (p.Pro481His) rs727502844
NM_024301.5(FKRP):c.151G>A (p.Val51Ile) rs769377092
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys) rs773024545
NM_024301.5(FKRP):c.183C>G (p.Asn61Lys) rs759539583
NM_024301.5(FKRP):c.185C>T (p.Ala62Val) rs1448177835
NM_024301.5(FKRP):c.187G>A (p.Val63Met)
NM_024301.5(FKRP):c.206C>T (p.Ser69Phe) rs1555738197
NM_024301.5(FKRP):c.232C>T (p.Pro78Ser) rs747511445
NM_024301.5(FKRP):c.295G>A (p.Val99Met) rs776733780
NM_024301.5(FKRP):c.298C>T (p.Arg100Cys) rs1244445645
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348
NM_024301.5(FKRP):c.364G>A (p.Ala122Thr) rs1060502111
NM_024301.5(FKRP):c.379G>A (p.Ala127Thr) rs1060502106
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr) rs768376273
NM_024301.5(FKRP):c.386T>A (p.Val129Glu)
NM_024301.5(FKRP):c.395G>A (p.Gly132Glu) rs755588907
NM_024301.5(FKRP):c.397G>T (p.Ala133Ser) rs1555738380
NM_024301.5(FKRP):c.430A>G (p.Met144Val) rs1568418007
NM_024301.5(FKRP):c.442C>A (p.Leu148Ile)
NM_024301.5(FKRP):c.446G>A (p.Arg149His) rs1449983261
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523
NM_024301.5(FKRP):c.466G>A (p.Val156Met) rs765402738
NM_024301.5(FKRP):c.477G>A (p.Pro159=)
NM_024301.5(FKRP):c.4C>T (p.Arg2Trp)
NM_024301.5(FKRP):c.511C>G (p.Leu171Val) rs766747690
NM_024301.5(FKRP):c.517G>A (p.Val173Ile) rs1322879846
NM_024301.5(FKRP):c.539C>A (p.Ala180Asp) rs1555738521
NM_024301.5(FKRP):c.540_541delinsTA (p.Arg181Ser) rs1568418289
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser) rs777245868
NM_024301.5(FKRP):c.551C>T (p.Ala184Val)
NM_024301.5(FKRP):c.554C>T (p.Ala185Val) rs1032563159
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr) rs746905689
NM_024301.5(FKRP):c.582G>A (p.Leu194=) rs771223960
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.5G>T (p.Arg2Leu) rs1308459613
NM_024301.5(FKRP):c.601C>T (p.Leu201Phe) rs1568418509
NM_024301.5(FKRP):c.608G>A (p.Arg203His) rs1568418540
NM_024301.5(FKRP):c.610G>A (p.Ala204Thr) rs764621521
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly) rs753297636
NM_024301.5(FKRP):c.628C>G (p.Leu210Val) rs778472624
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu) rs750041378
NM_024301.5(FKRP):c.640C>G (p.Leu214Val)
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser) rs878855080
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys)
NM_024301.5(FKRP):c.706C>G (p.Leu236Val)
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619
NM_024301.5(FKRP):c.740C>G (p.Pro247Arg) rs528000488
NM_024301.5(FKRP):c.750G>A (p.Thr250=) rs1390038437
NM_024301.5(FKRP):c.757G>T (p.Ala253Ser) rs959679901
NM_024301.5(FKRP):c.820A>T (p.Ile274Phe) rs1060502107
NM_024301.5(FKRP):c.82C>G (p.Gln28Glu) rs1060502110
NM_024301.5(FKRP):c.836G>C (p.Trp279Ser) rs1555738797
NM_024301.5(FKRP):c.851T>C (p.Leu284Pro) rs1435780847
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) rs762283381
NM_024301.5(FKRP):c.933G>C (p.Glu311Asp)
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp)
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr)
NM_024301.5(FKRP):c.982_984del (p.Tyr328del) rs886043458
NM_032237.5(POMK):c.1024A>G (p.Met342Val) rs762404960
NM_032237.5(POMK):c.20A>G (p.Asn7Ser) rs143957574
NM_032237.5(POMK):c.254A>G (p.Lys85Arg) rs752925552
NM_032237.5(POMK):c.271G>A (p.Ala91Thr)
NM_032237.5(POMK):c.407C>T (p.Thr136Met) rs138216719
NM_032237.5(POMK):c.456C>A (p.His152Gln) rs1363145685
NM_032237.5(POMK):c.502A>C (p.Lys168Gln) rs756014333
NM_032237.5(POMK):c.565A>G (p.Ile189Val) rs149297443
NM_032237.5(POMK):c.589G>T (p.Val197Leu) rs374943200
NM_032237.5(POMK):c.599G>A (p.Arg200Gln)
NM_032237.5(POMK):c.626C>T (p.Pro209Leu) rs369093146
NM_032237.5(POMK):c.68T>C (p.Leu23Pro) rs200277006
NM_032237.5(POMK):c.704A>G (p.Asn235Ser) rs200742772
NM_032237.5(POMK):c.715G>A (p.Gly239Arg)
NM_032237.5(POMK):c.760G>A (p.Val254Met) rs34715198
NM_032237.5(POMK):c.76A>C (p.Ile26Leu)
NM_032237.5(POMK):c.883C>T (p.His295Tyr) rs1554524387
NM_032237.5(POMK):c.905T>A (p.Val302Asp) rs199756983
NM_032237.5(POMK):c.910T>C (p.Phe304Leu) rs757744253
NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser) rs200535361
NM_032806.6(POMGNT2):c.1070G>A (p.Arg357His)
NM_032806.6(POMGNT2):c.1114G>A (p.Asp372Asn)
NM_032806.6(POMGNT2):c.1123A>G (p.Thr375Ala)
NM_032806.6(POMGNT2):c.1162C>T (p.Leu388Phe) rs139060322
NM_032806.6(POMGNT2):c.119G>A (p.Arg40Gln) rs146229269
NM_032806.6(POMGNT2):c.1219C>T (p.Arg407Trp) rs138480528
NM_032806.6(POMGNT2):c.1232del (p.Gln411fs) rs755487513
NM_032806.6(POMGNT2):c.1286G>A (p.Arg429His)
NM_032806.6(POMGNT2):c.1313G>A (p.Arg438Gln)
NM_032806.6(POMGNT2):c.1349C>G (p.Thr450Ser)
NM_032806.6(POMGNT2):c.1387C>T (p.Arg463Cys)
NM_032806.6(POMGNT2):c.1390G>A (p.Val464Met)
NM_032806.6(POMGNT2):c.1402C>T (p.Arg468Trp) rs137873804
NM_032806.6(POMGNT2):c.1415G>A (p.Arg472Gln)
NM_032806.6(POMGNT2):c.1457G>A (p.Arg486Gln)
NM_032806.6(POMGNT2):c.1514C>G (p.Ser505Cys)
NM_032806.6(POMGNT2):c.161C>T (p.Pro54Leu)
NM_032806.6(POMGNT2):c.1660A>G (p.Thr554Ala) rs202058055
NM_032806.6(POMGNT2):c.1687A>G (p.Ile563Val)
NM_032806.6(POMGNT2):c.1716T>G (p.Phe572Leu)
NM_032806.6(POMGNT2):c.230G>A (p.Arg77His) rs769075803
NM_032806.6(POMGNT2):c.238C>T (p.Arg80Cys) rs780388475
NM_032806.6(POMGNT2):c.25G>A (p.Ala9Thr)
NM_032806.6(POMGNT2):c.262A>G (p.Asn88Asp)
NM_032806.6(POMGNT2):c.283_285TTC[1] (p.Phe96del) rs767570675
NM_032806.6(POMGNT2):c.290A>T (p.His97Leu)
NM_032806.6(POMGNT2):c.332G>A (p.Arg111His) rs778907895
NM_032806.6(POMGNT2):c.377A>G (p.Asn126Ser) rs750654109
NM_032806.6(POMGNT2):c.396C>G (p.Phe132Leu)
NM_032806.6(POMGNT2):c.397G>A (p.Val133Met)
NM_032806.6(POMGNT2):c.409G>T (p.Ala137Ser) rs760916035
NM_032806.6(POMGNT2):c.421C>T (p.Arg141Cys) rs150758981
NM_032806.6(POMGNT2):c.437C>T (p.Pro146Leu)
NM_032806.6(POMGNT2):c.442T>C (p.Phe148Leu)
NM_032806.6(POMGNT2):c.454G>A (p.Val152Met) rs201114442
NM_032806.6(POMGNT2):c.458C>G (p.Ala153Gly) rs1559414712
NM_032806.6(POMGNT2):c.484G>A (p.Asp162Asn) rs201407522
NM_032806.6(POMGNT2):c.488A>G (p.Asn163Ser) rs140389725
NM_032806.6(POMGNT2):c.499G>A (p.Val167Ile)
NM_032806.6(POMGNT2):c.569G>A (p.Arg190Gln) rs200080447
NM_032806.6(POMGNT2):c.582G>T (p.Met194Ile)
NM_032806.6(POMGNT2):c.610G>A (p.Asp204Asn)
NM_032806.6(POMGNT2):c.625C>T (p.Leu209Phe)
NM_032806.6(POMGNT2):c.635A>G (p.Lys212Arg) rs141665095
NM_032806.6(POMGNT2):c.650G>A (p.Arg217Gln) rs368280765
NM_032806.6(POMGNT2):c.652G>A (p.Ala218Thr) rs1559414478
NM_032806.6(POMGNT2):c.680T>A (p.Leu227Gln) rs1559414462
NM_032806.6(POMGNT2):c.71G>A (p.Arg24Gln) rs139245562
NM_032806.6(POMGNT2):c.747G>C (p.Gln249His)
NM_032806.6(POMGNT2):c.762G>T (p.Lys254Asn) rs115870061
NM_032806.6(POMGNT2):c.77G>A (p.Arg26His) rs143667339
NM_032806.6(POMGNT2):c.793C>T (p.Arg265Trp) rs753736893
NM_032806.6(POMGNT2):c.799T>A (p.Phe267Ile)
NM_032806.6(POMGNT2):c.839C>G (p.Thr280Arg)
NM_032806.6(POMGNT2):c.855C>T (p.Gly285=) rs763778888
NM_032806.6(POMGNT2):c.856G>A (p.Glu286Lys)
NM_032806.6(POMGNT2):c.859G>A (p.Glu287Lys) rs774815839
NM_032806.6(POMGNT2):c.935A>G (p.Gln312Arg) rs375879947
NM_032806.6(POMGNT2):c.979A>C (p.Thr327Pro)
NM_032806.6(POMGNT2):c.994G>A (p.Val332Met)
NM_032806.6(POMGNT2):c.997C>T (p.Arg333Trp)
NM_152490.5(B3GALNT2):c.1013A>G (p.Asn338Ser) rs1553343724
NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys)
NM_152490.5(B3GALNT2):c.1057C>G (p.Leu353Val) rs1553342995
NM_152490.5(B3GALNT2):c.1076G>A (p.Cys359Tyr) rs1553342979
NM_152490.5(B3GALNT2):c.107C>G (p.Pro36Arg) rs1553356108
NM_152490.5(B3GALNT2):c.10T>C (p.Trp4Arg) rs1553356208
NM_152490.5(B3GALNT2):c.1108A>T (p.Ile370Phe) rs1553342963
NM_152490.5(B3GALNT2):c.1178G>A (p.Arg393Gln) rs140708018
NM_152490.5(B3GALNT2):c.1214C>T (p.Pro405Leu)
NM_152490.5(B3GALNT2):c.1368+3A>G rs1558407116
NM_152490.5(B3GALNT2):c.1373G>A (p.Ser458Asn) rs202067569
NM_152490.5(B3GALNT2):c.1397G>A (p.Cys466Tyr)
NM_152490.5(B3GALNT2):c.1433C>T (p.Pro478Leu)
NM_152490.5(B3GALNT2):c.1445C>T (p.Thr482Met)
NM_152490.5(B3GALNT2):c.1468C>T (p.Arg490Trp)
NM_152490.5(B3GALNT2):c.1474G>A (p.Gly492Ser)
NM_152490.5(B3GALNT2):c.1487G>A (p.Arg496Gln) rs111541487
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842
NM_152490.5(B3GALNT2):c.259C>G (p.Arg87Gly) rs747653180
NM_152490.5(B3GALNT2):c.29C>G (p.Pro10Arg) rs1335073175
NM_152490.5(B3GALNT2):c.347A>G (p.Asn116Ser)
NM_152490.5(B3GALNT2):c.383C>T (p.Ala128Val)
NM_152490.5(B3GALNT2):c.410C>T (p.Ser137Leu) rs140393851
NM_152490.5(B3GALNT2):c.439G>C (p.Val147Leu) rs143983025
NM_152490.5(B3GALNT2):c.43G>A (p.Ala15Thr) rs997345764
NM_152490.5(B3GALNT2):c.458A>T (p.Tyr153Phe) rs757111780
NM_152490.5(B3GALNT2):c.466G>A (p.Val156Ile) rs151133469
NM_152490.5(B3GALNT2):c.500A>G (p.Asn167Ser)
NM_152490.5(B3GALNT2):c.628G>A (p.Val210Met)
NM_152490.5(B3GALNT2):c.727G>C (p.Val243Leu) rs755405777
NM_152490.5(B3GALNT2):c.790T>A (p.Phe264Ile)
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) rs367543074
NM_152490.5(B3GALNT2):c.842-3T>G rs1247622470
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe)
NM_152490.5(B3GALNT2):c.896A>G (p.His299Arg)
NM_152490.5(B3GALNT2):c.959T>C (p.Ile320Thr) rs148808160

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