ClinVar Miner

List of variants reported as uncertain significance for congenital vitreoretinal dysplasia by Invitae

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 707
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HGVS dbSNP
NC_000001.10:g.(?_235613501)_(235667572_?)dup
NC_000001.10:g.(?_235613511)_(235658148_?)dup
NC_000001.10:g.(?_235613511)_(235667562_?)dup
NC_000001.11:g.(?_235470840)_(235470970_?)dup
NC_000003.11:g.(?_43121161)_(43122943_?)dup
NC_000007.14:g.(?_16091685)_(16091809_?)del
NC_000007.14:g.(?_16216046)_(16216217_?)del
NC_000007.14:g.(?_16216056)_(16216207_?)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_000009.12:g.(?_105575023)_(105635274_?)dup
NC_000009.12:g.(?_130664644)_(131523116_?)dup
NC_000012.11:g.(?_64198994)_(64199204_?)dup
NC_000019.10:g.(?_46605817)_(46756948_?)dup
NC_000019.10:g.(?_46755441)_(46756948_?)dup
NM_001077365.2(POMT1):c.1036C>T (p.Pro346Ser)
NM_001077365.2(POMT1):c.1052A>G (p.Asn351Ser)
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn) rs141229412
NM_001077365.2(POMT1):c.1109C>T (p.Pro370Leu)
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177
NM_001077365.2(POMT1):c.1162C>T (p.Arg388Cys) rs748087053
NM_001077365.2(POMT1):c.1163G>A (p.Arg388His) rs138640226
NM_001077365.2(POMT1):c.1193C>T (p.Pro398Leu) rs776388419
NM_001077365.2(POMT1):c.122+5G>A rs376753193
NM_001077365.2(POMT1):c.1229T>C (p.Ile410Thr) rs1554778053
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys) rs752384050
NM_001077365.2(POMT1):c.1349C>A (p.Thr450Asn) rs757785909
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser) rs746849558
NM_001077365.2(POMT1):c.1399C>T (p.Arg467Trp)
NM_001077365.2(POMT1):c.1439A>G (p.Tyr480Cys)
NM_001077365.2(POMT1):c.1465_1467GAG[1] (p.Glu490del)
NM_001077365.2(POMT1):c.1480G>A (p.Gly494Ser) rs200204923
NM_001077365.2(POMT1):c.1490_1498del (p.Gln497_Gln499del)
NM_001077365.2(POMT1):c.151A>T (p.Ile51Phe) rs886044651
NM_001077365.2(POMT1):c.1540G>A (p.Val514Ile) rs984288781
NM_001077365.2(POMT1):c.154T>C (p.Ser52Pro) rs1554771665
NM_001077365.2(POMT1):c.1555A>G (p.Ser519Gly) rs1564381465
NM_001077365.2(POMT1):c.1565C>T (p.Ala522Val)
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341
NM_001077365.2(POMT1):c.1616C>T (p.Ser539Leu)
NM_001077365.2(POMT1):c.1658T>C (p.Leu553Pro) rs777490066
NM_001077365.2(POMT1):c.1705A>C (p.Ile569Leu) rs1588493803
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642
NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val) rs749978093
NM_001077365.2(POMT1):c.1735G>C (p.Val579Leu) rs1588494128
NM_001077365.2(POMT1):c.1763A>G (p.Tyr588Cys) rs772131719
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413
NM_001077365.2(POMT1):c.1795C>T (p.Arg599Trp) rs150899645
NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln) rs367709136
NM_001077365.2(POMT1):c.1823A>G (p.Gln608Arg) rs145021255
NM_001077365.2(POMT1):c.1838G>A (p.Arg613His) rs147601415
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser) rs756303645
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559
NM_001077365.2(POMT1):c.2002A>C (p.Arg668=)
NM_001077365.2(POMT1):c.2003+4C>T rs766635497
NM_001077365.2(POMT1):c.2027T>C (p.Phe676Ser) rs1201402718
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) rs535544133
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln) rs141895982
NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys) rs200179598
NM_001077365.2(POMT1):c.2084G>A (p.Arg695His) rs373402995
NM_001077365.2(POMT1):c.2090T>A (p.Leu697His) rs753872714
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.2098G>T (p.Gly700Trp)
NM_001077365.2(POMT1):c.2101G>T (p.Asp701Tyr) rs771877812
NM_001077365.2(POMT1):c.2123A>T (p.Glu708Val) rs975505270
NM_001077365.2(POMT1):c.2138G>A (p.Arg713His) rs938573554
NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter) rs202202445
NM_001077365.2(POMT1):c.328C>T (p.Leu110Phe) rs1338443127
NM_001077365.2(POMT1):c.332C>T (p.Ala111Val) rs371531181
NM_001077365.2(POMT1):c.367G>T (p.Val123Leu) rs1424629668
NM_001077365.2(POMT1):c.389A>C (p.His130Pro) rs752880907
NM_001077365.2(POMT1):c.401T>C (p.Met134Thr) rs780170650
NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe) rs141833028
NM_001077365.2(POMT1):c.426C>T (p.Ile142=) rs771390000
NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser) rs182295674
NM_001077365.2(POMT1):c.516G>T (p.Lys172Asn)
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900
NM_001077365.2(POMT1):c.629C>T (p.Thr210Met) rs377037072
NM_001077365.2(POMT1):c.640G>A (p.Val214Met)
NM_001077365.2(POMT1):c.687G>C (p.Gln229His)
NM_001077365.2(POMT1):c.698A>G (p.Asn233Ser) rs139774354
NM_001077365.2(POMT1):c.700G>A (p.Val234Ile)
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile) rs772590277
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763
NM_001077365.2(POMT1):c.803G>A (p.Arg268His) rs369644530
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380
NM_001077365.2(POMT1):c.855+6T>C rs200692465
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp) rs886042627
NM_001077365.2(POMT1):c.879G>T (p.Gln293His)
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) rs190112934
NM_001077365.2(POMT1):c.986+5G>A rs370096853
NM_001079802.2(FKTN):c.1046T>C (p.Val349Ala) rs539089647
NM_001079802.2(FKTN):c.1056C>G (p.Ser352Arg) rs149085844
NM_001079802.2(FKTN):c.1086T>A (p.Asp362Glu) rs1588221689
NM_001079802.2(FKTN):c.1088T>G (p.Val363Gly)
NM_001079802.2(FKTN):c.10A>C (p.Ile4Leu) rs757900916
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu)
NM_001079802.2(FKTN):c.1129A>G (p.Met377Val) rs1200757732
NM_001079802.2(FKTN):c.1135A>G (p.Asn379Asp) rs1048088668
NM_001079802.2(FKTN):c.1157C>T (p.Thr386Ile)
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262
NM_001079802.2(FKTN):c.1174T>C (p.Tyr392His) rs752191412
NM_001079802.2(FKTN):c.1178T>C (p.Leu393Pro) rs374962879
NM_001079802.2(FKTN):c.1196T>C (p.Leu399Pro)
NM_001079802.2(FKTN):c.1205C>T (p.Thr402Ile) rs371464705
NM_001079802.2(FKTN):c.124A>G (p.Lys42Glu) rs752663857
NM_001079802.2(FKTN):c.1250A>T (p.Glu417Val) rs543684877
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs) rs1588315166
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445
NM_001079802.2(FKTN):c.1298C>T (p.Thr433Met) rs201590151
NM_001079802.2(FKTN):c.12C>G (p.Ile4Met) rs1389073650
NM_001079802.2(FKTN):c.1312C>T (p.Arg438Cys) rs150852885
NM_001079802.2(FKTN):c.1315_1316TC[3] (p.Pro440fs) rs886042778
NM_001079802.2(FKTN):c.1319C>T (p.Pro440Leu) rs1564357396
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618
NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys)
NM_001079802.2(FKTN):c.1369G>A (p.Val457Ile)
NM_001079802.2(FKTN):c.1371_1381dup (p.Tyr461fs) rs727502847
NM_001079802.2(FKTN):c.1379T>C (p.Leu460Ser)
NM_001079802.2(FKTN):c.13A>G (p.Asn5Asp) rs765929865
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln) rs753641411
NM_001079802.2(FKTN):c.14A>G (p.Asn5Ser) rs751473818
NM_001079802.2(FKTN):c.170C>T (p.Ala57Val) rs1554751104
NM_001079802.2(FKTN):c.220C>A (p.Leu74Ile) rs1060501407
NM_001079802.2(FKTN):c.22G>A (p.Val8Met) rs368981218
NM_001079802.2(FKTN):c.22G>T (p.Val8Leu) rs368981218
NM_001079802.2(FKTN):c.292A>G (p.Thr98Ala) rs758798692
NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser) rs376452959
NM_001079802.2(FKTN):c.293C>T (p.Thr98Ile) rs376452959
NM_001079802.2(FKTN):c.29T>C (p.Leu10Ser) rs1587865923
NM_001079802.2(FKTN):c.300A>G (p.Gln100=) rs1588088054
NM_001079802.2(FKTN):c.301T>C (p.Cys101Arg) rs886044095
NM_001079802.2(FKTN):c.34C>G (p.Leu12Val) rs939985733
NM_001079802.2(FKTN):c.374G>A (p.Gly125Asp)
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_001079802.2(FKTN):c.382C>T (p.Arg128Trp) rs767026996
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441
NM_001079802.2(FKTN):c.397A>G (p.Met133Val) rs569778463
NM_001079802.2(FKTN):c.400G>A (p.Gly134Arg) rs1554752862
NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del)
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met) rs149033995
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690
NM_001079802.2(FKTN):c.482A>G (p.His161Arg) rs727502848
NM_001079802.2(FKTN):c.489C>G (p.Ile163Met) rs980208971
NM_001079802.2(FKTN):c.508G>A (p.Ala170Thr) rs778818366
NM_001079802.2(FKTN):c.511A>T (p.Ile171Phe) rs1432918466
NM_001079802.2(FKTN):c.545A>G (p.Asn182Ser) rs760170065
NM_001079802.2(FKTN):c.556C>T (p.His186Tyr) rs767961629
NM_001079802.2(FKTN):c.569G>A (p.Arg190Lys) rs760967116
NM_001079802.2(FKTN):c.584T>C (p.Ile195Thr) rs753503050
NM_001079802.2(FKTN):c.586G>T (p.Asp196Tyr) rs756748012
NM_001079802.2(FKTN):c.58T>G (p.Phe20Val) rs1554731003
NM_001079802.2(FKTN):c.623G>A (p.Gly208Asp) rs778048703
NM_001079802.2(FKTN):c.643G>C (p.Asp215His) rs745975808
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195
NM_001079802.2(FKTN):c.711C>G (p.His237Gln)
NM_001079802.2(FKTN):c.719_721AAG[1] (p.Glu241del) rs1437925297
NM_001079802.2(FKTN):c.727C>G (p.Pro243Ala)
NM_001079802.2(FKTN):c.774C>G (p.Phe258Leu)
NM_001079802.2(FKTN):c.780G>A (p.Gln260=) rs1459814015
NM_001079802.2(FKTN):c.787C>G (p.Leu263Val) rs770440134
NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly) rs1037406947
NM_001079802.2(FKTN):c.802G>T (p.Val268Leu) rs878854165
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116
NM_001079802.2(FKTN):c.822G>T (p.Arg274=) rs997235832
NM_001079802.2(FKTN):c.83A>G (p.Tyr28Cys) rs374203636
NM_001079802.2(FKTN):c.854C>T (p.Ala285Val) rs137951613
NM_001079802.2(FKTN):c.877G>C (p.Val293Leu) rs146900302
NM_001079802.2(FKTN):c.885C>G (p.Phe295Leu) rs1564319328
NM_001079802.2(FKTN):c.905G>A (p.Cys302Tyr) rs1554757939
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly) rs267606814
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304
NM_001079802.2(FKTN):c.92A>G (p.Tyr31Cys) rs533603648
NM_001079802.2(FKTN):c.938C>T (p.Pro313Leu) rs1588204815
NM_001079802.2(FKTN):c.941A>G (p.Tyr314Cys) rs1451453111
NM_001079802.2(FKTN):c.952G>A (p.Val318Ile) rs141120187
NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser) rs369832637
NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr) rs762217429
NM_001101426.4(CRPPA):c.124C>T (p.Arg42Cys)
NM_001101426.4(CRPPA):c.1350A>G (p.Ile450Met)
NM_001101426.4(CRPPA):c.13C>T (p.Pro5Ser) rs1037010291
NM_001101426.4(CRPPA):c.160G>T (p.Gly54Trp) rs1036959263
NM_001101426.4(CRPPA):c.193C>A (p.Pro65Thr) rs886042489
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.262T>C (p.Cys88Arg)
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val) rs762370550
NM_001101426.4(CRPPA):c.315G>T (p.Met105Ile)
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.550C>G (p.Arg184Gly)
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293
NM_001101426.4(CRPPA):c.565A>T (p.Thr189Ser)
NM_001101426.4(CRPPA):c.58G>A (p.Gly20Ser)
NM_001101426.4(CRPPA):c.614G>A (p.Arg205His) rs566179705
NM_001101426.4(CRPPA):c.626G>C (p.Arg209Thr) rs374054216
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp) rs1008210645
NM_001101426.4(CRPPA):c.640C>A (p.Pro214Thr) rs886043226
NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys) rs370627877
NM_001101426.4(CRPPA):c.646G>T (p.Ala216Ser)
NM_001101426.4(CRPPA):c.674C>G (p.Ala225Gly)
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 rs1583487698
NM_001101426.4(CRPPA):c.847C>G (p.Gln283Glu) rs750477422
NM_001101426.4(CRPPA):c.874_875delinsAG (p.Glu292Arg) rs1583487638
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) rs373422736
NM_001101426.4(CRPPA):c.991A>G (p.Ile331Val) rs886044693
NM_001165928.3(DAG1):c.1111C>T (p.Arg371Trp)
NM_001165928.3(DAG1):c.1181G>A (p.Gly394Asp)
NM_001165928.3(DAG1):c.1883_1887delinsACTTT (p.Ala628_Leu629delinsAspPhe) rs1559580384
NM_001165928.3(DAG1):c.1925G>A (p.Cys642Tyr)
NM_001165928.3(DAG1):c.2116A>G (p.Thr706Ala)
NM_001165928.3(DAG1):c.2140C>T (p.Arg714Trp)
NM_001165928.3(DAG1):c.227G>A (p.Arg76His)
NM_001165928.3(DAG1):c.229T>C (p.Ser77Pro)
NM_001165928.3(DAG1):c.2600C>T (p.Pro867Leu)
NM_001165928.3(DAG1):c.286-4C>G
NM_001165928.3(DAG1):c.442A>T (p.Thr148Ser)
NM_001165928.3(DAG1):c.552G>A (p.Ala184=)
NM_001165928.3(DAG1):c.643C>T (p.Arg215Trp)
NM_001165928.3(DAG1):c.885G>A (p.Val295=)
NM_001165928.3(DAG1):c.910C>T (p.Pro304Ser)
NM_001165928.3(DAG1):c.920C>G (p.Pro307Arg)
NM_001165928.3(DAG1):c.971T>A (p.Ile324Asn)
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile) rs148759919
NM_004393.6(DAG1):c.1046C>T (p.Pro349Leu) rs200233956
NM_004393.6(DAG1):c.1051A>G (p.Thr351Ala) rs376991799
NM_004393.6(DAG1):c.1100C>T (p.Thr367Met) rs746712913
NM_004393.6(DAG1):c.1182C>T (p.Gly394=) rs758186665
NM_004393.6(DAG1):c.1186A>G (p.Thr396Ala) rs779846682
NM_004393.6(DAG1):c.1205G>A (p.Arg402His) rs537829489
NM_004393.6(DAG1):c.1205G>T (p.Arg402Leu) rs537829489
NM_004393.6(DAG1):c.1210A>G (p.Thr404Ala) rs769229834
NM_004393.6(DAG1):c.1215G>A (p.Met405Ile) rs141238609
NM_004393.6(DAG1):c.1240A>T (p.Thr414Ser) rs768983113
NM_004393.6(DAG1):c.1280C>T (p.Pro427Leu) rs770985285
NM_004393.6(DAG1):c.1283G>A (p.Arg428Gln) rs780793711
NM_004393.6(DAG1):c.1306A>G (p.Thr436Ala) rs149838438
NM_004393.6(DAG1):c.1307C>T (p.Thr436Met) rs143573515
NM_004393.6(DAG1):c.1360C>T (p.Arg454Trp) rs369872091
NM_004393.6(DAG1):c.1369C>T (p.Arg457Trp) rs544574838
NM_004393.6(DAG1):c.1487G>T (p.Arg496Leu) rs199519832
NM_004393.6(DAG1):c.1489C>G (p.Pro497Ala) rs376508721
NM_004393.6(DAG1):c.148A>G (p.Met50Val) rs758104540
NM_004393.6(DAG1):c.1492_1494del (p.Glu498del) rs1553653093
NM_004393.6(DAG1):c.1535C>T (p.Thr512Ile) rs527867946
NM_004393.6(DAG1):c.1543G>A (p.Glu515Lys) rs142703906
NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile) rs199894361
NM_004393.6(DAG1):c.1705C>T (p.His569Tyr) rs1559579950
NM_004393.6(DAG1):c.1708G>A (p.Val570Met) rs370669533
NM_004393.6(DAG1):c.1757C>T (p.Ser586Leu) rs371990100
NM_004393.6(DAG1):c.1799A>G (p.Gln600Arg) rs369180031
NM_004393.6(DAG1):c.1826A>G (p.Lys609Arg) rs200798800
NM_004393.6(DAG1):c.1829C>T (p.Ala610Val) rs537920451
NM_004393.6(DAG1):c.1847C>T (p.Pro616Leu) rs200334256
NM_004393.6(DAG1):c.185C>T (p.Pro62Leu) rs375938350
NM_004393.6(DAG1):c.193G>A (p.Val65Ile) rs757379579
NM_004393.6(DAG1):c.1966G>A (p.Val656Met) rs1313375346
NM_004393.6(DAG1):c.1977G>A (p.Trp659Ter) rs1553653437
NM_004393.6(DAG1):c.2001G>T (p.Glu667Asp) rs767648246
NM_004393.6(DAG1):c.2023G>A (p.Ala675Thr) rs764063699
NM_004393.6(DAG1):c.2044G>A (p.Ala682Thr) rs561289962
NM_004393.6(DAG1):c.2100T>G (p.Phe700Leu) rs141697036
NM_004393.6(DAG1):c.2123C>T (p.Thr708Met) rs758254304
NM_004393.6(DAG1):c.2124G>A (p.Thr708=) rs140204495
NM_004393.6(DAG1):c.212C>A (p.Thr71Lys) rs142572135
NM_004393.6(DAG1):c.2141G>A (p.Arg714Gln) rs201488118
NM_004393.6(DAG1):c.2245G>A (p.Val749Ile) rs1559581311
NM_004393.6(DAG1):c.2303G>T (p.Gly768Val) rs1553653701
NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys) rs752441031
NM_004393.6(DAG1):c.2336G>A (p.Arg779Gln) rs1283360967
NM_004393.6(DAG1):c.2342G>A (p.Gly781Asp) rs1223724355
NM_004393.6(DAG1):c.2366C>T (p.Ala789Val) rs1426926145
NM_004393.6(DAG1):c.23C>T (p.Ser8Leu) rs199501149
NM_004393.6(DAG1):c.2431C>T (p.Pro811Ser) rs368597067
NM_004393.6(DAG1):c.244A>G (p.Ile82Val) rs141706514
NM_004393.6(DAG1):c.2479C>T (p.Pro827Ser) rs141562264
NM_004393.6(DAG1):c.2512G>A (p.Glu838Lys) rs745846165
NM_004393.6(DAG1):c.2536A>C (p.Thr846Pro) rs775365808
NM_004393.6(DAG1):c.2552C>T (p.Thr851Met) rs977000024
NM_004393.6(DAG1):c.2561G>A (p.Arg854Gln) rs199933395
NM_004393.6(DAG1):c.2576A>G (p.Asn859Ser) rs754079735
NM_004393.6(DAG1):c.2588A>G (p.Tyr863Cys) rs1436774690
NM_004393.6(DAG1):c.2635C>T (p.Arg879Cys) rs147831615
NM_004393.6(DAG1):c.268A>G (p.Ser90Gly) rs140454570
NM_004393.6(DAG1):c.424G>A (p.Gly142Arg) rs749962207
NM_004393.6(DAG1):c.473C>T (p.Pro158Leu) rs368359780
NM_004393.6(DAG1):c.496T>G (p.Ser166Ala) rs1421891404
NM_004393.6(DAG1):c.575C>T (p.Thr192Met) rs193922955
NM_004393.6(DAG1):c.576G>A (p.Thr192=) rs746894568
NM_004393.6(DAG1):c.613A>G (p.Lys205Glu) rs145871499
NM_004393.6(DAG1):c.623T>C (p.Ile208Thr) rs772976299
NM_004393.6(DAG1):c.634C>A (p.His212Asn) rs146574353
NM_004393.6(DAG1):c.712A>G (p.Met238Val) rs148238809
NM_004393.6(DAG1):c.735G>A (p.Pro245=) rs748164001
NM_004393.6(DAG1):c.751del (p.Val251fs) rs1575410881
NM_004393.6(DAG1):c.829G>A (p.Val277Ile) rs375892170
NM_004393.6(DAG1):c.854C>T (p.Ala285Val) rs1235865427
NM_004393.6(DAG1):c.902A>G (p.Asn301Ser) rs745559790
NM_004393.6(DAG1):c.928G>A (p.Val310Ile) rs755258174
NM_004393.6(DAG1):c.932G>A (p.Arg311Gln) rs752813826
NM_004393.6(DAG1):c.965C>T (p.Thr322Ile) rs376602004
NM_006731.2(FKTN):c.369+4A>G rs1588088864
NM_006731.2(FKTN):c.369+6T>G rs1554751423
NM_006876.3(B4GAT1):c.1009A>T (p.Thr337Ser) rs1555016408
NM_006876.3(B4GAT1):c.1022G>A (p.Arg341His) rs770685607
NM_006876.3(B4GAT1):c.1056+6C>G rs1555016387
NM_006876.3(B4GAT1):c.1136C>G (p.Ala379Gly) rs1012499887
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.37C>T (p.Gln13Ter) rs767082700
NM_006876.3(B4GAT1):c.415G>T (p.Ala139Ser) rs1565209689
NM_006876.3(B4GAT1):c.447G>C (p.Met149Ile) rs374533716
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=) rs750370418
NM_006876.3(B4GAT1):c.514G>C (p.Glu172Gln) rs761732914
NM_006876.3(B4GAT1):c.521G>T (p.Gly174Val) rs771427950
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) rs774850290
NM_006876.3(B4GAT1):c.699C>A (p.Ser233Arg)
NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser) rs35429253
NM_006876.3(B4GAT1):c.772C>G (p.Pro258Ala)
NM_006876.3(B4GAT1):c.980C>A (p.Pro327Gln) rs1555016420
NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu) rs368961025
NM_006876.3(B4GAT1):c.994G>A (p.Gly332Arg)
NM_013382.5(POMT2):c.1006+4_1006+7del rs1594794303
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) rs139830891
NM_013382.5(POMT2):c.1124C>T (p.Thr375Ile) rs542912704
NM_013382.5(POMT2):c.1141T>C (p.Tyr381His) rs369489033
NM_013382.5(POMT2):c.1142A>G (p.Tyr381Cys) rs375840897
NM_013382.5(POMT2):c.1186C>T (p.Pro396Ser) rs764723711
NM_013382.5(POMT2):c.1223A>G (p.His408Arg) rs1594787166
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) rs774466835
NM_013382.5(POMT2):c.1282_1284del (p.His428del) rs1594890912
NM_013382.5(POMT2):c.128A>G (p.Lys43Arg) rs745417690
NM_013382.5(POMT2):c.1300C>T (p.Arg434Trp) rs768256055
NM_013382.5(POMT2):c.1321G>A (p.Gly441Ser) rs199743727
NM_013382.5(POMT2):c.133C>T (p.Pro45Ser) rs780976004
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) rs200976246
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) rs760413289
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) rs147882035
NM_013382.5(POMT2):c.160G>T (p.Ala54Ser) rs1239345534
NM_013382.5(POMT2):c.1627C>A (p.Leu543Met) rs367552151
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 rs555289061
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) rs1594885046
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.1975C>T (p.Arg659Trp) rs372939905
NM_013382.5(POMT2):c.2085_2086delinsTT (p.Trp695_Pro696delinsCysSer) rs1566642523
NM_013382.5(POMT2):c.2086C>A (p.Pro696Thr) rs76700503
NM_013382.5(POMT2):c.2087C>T (p.Pro696Leu) rs1449000965
NM_013382.5(POMT2):c.2111C>T (p.Ala704Val) rs746221148
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) rs1423335226
NM_013382.5(POMT2):c.229G>A (p.Asp77Asn) rs200992827
NM_013382.5(POMT2):c.242A>G (p.His81Arg) rs746662519
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) rs1594800236
NM_013382.5(POMT2):c.346C>T (p.Leu116Phe) rs1594800231
NM_013382.5(POMT2):c.416A>G (p.His139Arg) rs1594800188
NM_013382.5(POMT2):c.47C>G (p.Pro16Arg) rs778898705
NM_013382.5(POMT2):c.50G>A (p.Arg17Gln) rs753326186
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) rs921045202
NM_013382.5(POMT2):c.621G>A (p.Met207Ile) rs551885065
NM_013382.5(POMT2):c.640A>C (p.Asn214His) rs376485603
NM_013382.5(POMT2):c.642C>A (p.Asn214Lys) rs1594797659
NM_013382.5(POMT2):c.656+3C>G rs561052172
NM_013382.5(POMT2):c.658C>T (p.Pro220Ser) rs771201662
NM_013382.5(POMT2):c.685C>T (p.Leu229Phe) rs754512099
NM_013382.5(POMT2):c.825G>A (p.Val275=) rs779272258
NM_013382.5(POMT2):c.845G>A (p.Arg282His) rs756132642
NM_013382.5(POMT2):c.884C>G (p.Thr295Arg) rs794727871
NM_013382.7(POMT2):c.1000C>T (p.Pro334Ser)
NM_013382.7(POMT2):c.1121C>G (p.Thr374Ser)
NM_013382.7(POMT2):c.1238G>A (p.Arg413Gln)
NM_013382.7(POMT2):c.134C>T (p.Pro45Leu)
NM_013382.7(POMT2):c.1433A>G (p.His478Arg)
NM_013382.7(POMT2):c.1654-7C>A
NM_013382.7(POMT2):c.424A>G (p.Met142Val)
NM_013382.7(POMT2):c.61T>C (p.Cys21Arg)
NM_013382.7(POMT2):c.661T>A (p.Phe221Ile) rs746803006
NM_013382.7(POMT2):c.756A>G (p.Gln252=)
NM_013382.7(POMT2):c.758T>G (p.Val253Gly)
NM_013382.7(POMT2):c.763C>G (p.Leu255Val)
NM_013382.7(POMT2):c.767A>T (p.Asn256Ile)
NM_013382.7(POMT2):c.796G>A (p.Gly266Arg)
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.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]) rs767728184
NM_014254.3(RXYLT1):c.146C>G (p.Pro49Arg) rs1555225874
NM_014254.3(RXYLT1):c.159A>T (p.Arg53Ser) rs754031838
NM_014254.3(RXYLT1):c.163G>C (p.Gly55Arg) rs1565897565
NM_014254.3(RXYLT1):c.246A>C (p.Lys82Asn) rs1555225967
NM_014254.3(RXYLT1):c.267T>A (p.Asp89Glu) rs1592838478
NM_014254.3(RXYLT1):c.268A>G (p.Lys90Glu) rs144932093
NM_014254.3(RXYLT1):c.533C>G (p.Thr178Ser) rs755132657
NM_014254.3(RXYLT1):c.56T>C (p.Phe19Ser) rs375086772
NM_014254.3(RXYLT1):c.604G>A (p.Gly202Arg) rs771668001
NM_014254.3(RXYLT1):c.914+6T>G rs748809209
NM_014254.3(RXYLT1):c.920A>G (p.Gln307Arg) rs866198592
NM_024301.5(FKRP):c.1000G>A (p.Glu334Lys)
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.1057C>T (p.His353Tyr)
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro)
NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu) rs751586523
NM_024301.5(FKRP):c.113G>A (p.Gly38Glu) rs1599933942
NM_024301.5(FKRP):c.1141G>C (p.Ala381Pro) rs1031408738
NM_024301.5(FKRP):c.1141G>T (p.Ala381Ser)
NM_024301.5(FKRP):c.1174T>A (p.Phe392Ile) rs1269819838
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val) rs767570224
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) rs201076863
NM_024301.5(FKRP):c.125C>G (p.Ala42Gly)
NM_024301.5(FKRP):c.1268G>C (p.Arg423Pro) rs886042367
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.1309C>A (p.Gln437Lys)
NM_024301.5(FKRP):c.1316T>A (p.Val439Glu) rs754002921
NM_024301.5(FKRP):c.1358C>T (p.Pro453Leu)
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) rs747785577
NM_024301.5(FKRP):c.1397G>A (p.Arg466His) rs763422045
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.1442C>A (p.Pro481His) rs727502844
NM_024301.5(FKRP):c.1475C>T (p.Thr492Met)
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.172G>A (p.Ala58Thr)
NM_024301.5(FKRP):c.178G>T (p.Asp60Tyr)
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) rs955514933
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) rs1164727838
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)
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.374T>C (p.Phe125Ser) rs886042355
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) rs1599934959
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) rs1599935206
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=) rs1599935385
NM_024301.5(FKRP):c.491A>G (p.Asn164Ser)
NM_024301.5(FKRP):c.4C>T (p.Arg2Trp) rs748272589
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.52C>T (p.Leu18Phe) rs1226848053
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) rs1489408026
NM_024301.5(FKRP):c.554C>T (p.Ala185Val) rs1032563159
NM_024301.5(FKRP):c.557C>T (p.Pro186Leu) rs745619101
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) rs768674420
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser) rs878855080
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys) rs201951207
NM_024301.5(FKRP):c.706C>G (p.Leu236Val) rs754347622
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.757G>T (p.Ala253Ser) rs959679901
NM_024301.5(FKRP):c.763T>A (p.Trp255Arg)
NM_024301.5(FKRP):c.794G>T (p.Arg265Leu)
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.838G>A (p.Glu280Lys)
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) rs911700598
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp) rs1365712686
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr) rs1201873802
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.168C>G (p.Pro56=)
NM_032237.5(POMK):c.254A>G (p.Lys85Arg) rs752925552
NM_032237.5(POMK):c.265G>A (p.Glu89Lys)
NM_032237.5(POMK):c.271G>A (p.Ala91Thr) rs1365587547
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.457C>T (p.Pro153Ser)
NM_032237.5(POMK):c.47A>G (p.Glu16Gly)
NM_032237.5(POMK):c.502A>C (p.Lys168Gln) rs756014333
NM_032237.5(POMK):c.589G>T (p.Val197Leu) rs374943200
NM_032237.5(POMK):c.599G>A (p.Arg200Gln) rs146214675
NM_032237.5(POMK):c.599G>T (p.Arg200Leu)
NM_032237.5(POMK):c.619G>A (p.Asp207Asn)
NM_032237.5(POMK):c.620A>G (p.Asp207Gly)
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) rs35104071
NM_032237.5(POMK):c.719T>C (p.Met240Thr)
NM_032237.5(POMK):c.760G>A (p.Val254Met) rs34715198
NM_032237.5(POMK):c.76A>C (p.Ile26Leu) rs1586671643
NM_032237.5(POMK):c.773A>G (p.Gln258Arg) rs397509386
NM_032237.5(POMK):c.833A>G (p.Glu278Gly)
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.1007G>A (p.Ser336Asn)
NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser) rs200535361
NM_032806.6(POMGNT2):c.1070G>A (p.Arg357His) rs144487961
NM_032806.6(POMGNT2):c.1114G>A (p.Asp372Asn) rs147129872
NM_032806.6(POMGNT2):c.1123A>G (p.Thr375Ala) rs755833440
NM_032806.6(POMGNT2):c.1162C>T (p.Leu388Phe) rs139060322
NM_032806.6(POMGNT2):c.1180C>G (p.Arg394Gly)
NM_032806.6(POMGNT2):c.1195G>A (p.Glu399Lys) rs754794110
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.1234G>T (p.Gly412Trp)
NM_032806.6(POMGNT2):c.1249C>A (p.Leu417Met)
NM_032806.6(POMGNT2):c.1286G>A (p.Arg429His) rs562988051
NM_032806.6(POMGNT2):c.1313G>A (p.Arg438Gln) rs371405205
NM_032806.6(POMGNT2):c.1349C>G (p.Thr450Ser) rs759686826
NM_032806.6(POMGNT2):c.1387C>T (p.Arg463Cys) rs376177936
NM_032806.6(POMGNT2):c.1390G>A (p.Val464Met) rs150901131
NM_032806.6(POMGNT2):c.1402C>T (p.Arg468Trp) rs137873804
NM_032806.6(POMGNT2):c.1415G>A (p.Arg472Gln) rs147074827
NM_032806.6(POMGNT2):c.1457G>A (p.Arg486Gln) rs770439944
NM_032806.6(POMGNT2):c.1514C>G (p.Ser505Cys) rs144799574
NM_032806.6(POMGNT2):c.1567G>A (p.Glu523Lys)
NM_032806.6(POMGNT2):c.161C>T (p.Pro54Leu) rs748576103
NM_032806.6(POMGNT2):c.1660A>G (p.Thr554Ala) rs202058055
NM_032806.6(POMGNT2):c.1687A>G (p.Ile563Val) rs1316924045
NM_032806.6(POMGNT2):c.1716T>G (p.Phe572Leu) rs1575461128
NM_032806.6(POMGNT2):c.181A>G (p.Met61Val)
NM_032806.6(POMGNT2):c.230G>A (p.Arg77His) rs769075803
NM_032806.6(POMGNT2):c.232A>G (p.Ile78Val)
NM_032806.6(POMGNT2):c.238C>T (p.Arg80Cys) rs780388475
NM_032806.6(POMGNT2):c.25G>A (p.Ala9Thr) rs761633368
NM_032806.6(POMGNT2):c.262A>G (p.Asn88Asp) rs376220705
NM_032806.6(POMGNT2):c.283_285TTC[1] (p.Phe96del) rs767570675
NM_032806.6(POMGNT2):c.290A>T (p.His97Leu) rs762349670
NM_032806.6(POMGNT2):c.332G>A (p.Arg111His) rs778907895
NM_032806.6(POMGNT2):c.352G>A (p.Asp118Asn)
NM_032806.6(POMGNT2):c.377A>G (p.Asn126Ser) rs750654109
NM_032806.6(POMGNT2):c.37T>G (p.Ser13Ala)
NM_032806.6(POMGNT2):c.396C>G (p.Phe132Leu) rs150567400
NM_032806.6(POMGNT2):c.397G>A (p.Val133Met) rs139204684
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) rs780964337
NM_032806.6(POMGNT2):c.442T>C (p.Phe148Leu) rs1575462833
NM_032806.6(POMGNT2):c.445G>A (p.Val149Met)
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.538C>T (p.Arg180Trp)
NM_032806.6(POMGNT2):c.569G>A (p.Arg190Gln) rs200080447
NM_032806.6(POMGNT2):c.582G>T (p.Met194Ile) rs1452053627
NM_032806.6(POMGNT2):c.594C>T (p.Gly198=)
NM_032806.6(POMGNT2):c.610G>A (p.Asp204Asn) rs761923554
NM_032806.6(POMGNT2):c.625C>T (p.Leu209Phe) rs140274895
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.706C>T (p.Leu236Phe)
NM_032806.6(POMGNT2):c.71G>A (p.Arg24Gln) rs139245562
NM_032806.6(POMGNT2):c.734A>G (p.Tyr245Cys)
NM_032806.6(POMGNT2):c.747G>C (p.Gln249His) rs762976283
NM_032806.6(POMGNT2):c.748C>A (p.Pro250Thr)
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) rs778188247
NM_032806.6(POMGNT2):c.829G>A (p.Val277Met)
NM_032806.6(POMGNT2):c.839C>G (p.Thr280Arg) rs1575462305
NM_032806.6(POMGNT2):c.855C>T (p.Gly285=) rs763778888
NM_032806.6(POMGNT2):c.856G>A (p.Glu286Lys) rs760408813
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) rs1343154694
NM_032806.6(POMGNT2):c.994G>A (p.Val332Met) rs549430013
NM_032806.6(POMGNT2):c.997C>T (p.Arg333Trp) rs749833091
NM_152490.5(B3GALNT2):c.1013A>G (p.Asn338Ser) rs1553343724
NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys) rs773864097
NM_152490.5(B3GALNT2):c.1040C>T (p.Thr347Met)
NM_152490.5(B3GALNT2):c.1057C>G (p.Leu353Val) rs1553342995
NM_152490.5(B3GALNT2):c.1069G>A (p.Asp357Asn)
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.1207C>T (p.Pro403Ser)
NM_152490.5(B3GALNT2):c.1214C>T (p.Pro405Leu) rs554797006
NM_152490.5(B3GALNT2):c.1216G>A (p.Ala406Thr) rs369079608
NM_152490.5(B3GALNT2):c.1318G>A (p.Asp440Asn)
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) rs1572474424
NM_152490.5(B3GALNT2):c.1433C>T (p.Pro478Leu) rs373773440
NM_152490.5(B3GALNT2):c.1445C>T (p.Thr482Met) rs541697587
NM_152490.5(B3GALNT2):c.1468C>T (p.Arg490Trp) rs751445150
NM_152490.5(B3GALNT2):c.1474G>A (p.Gly492Ser) rs772910525
NM_152490.5(B3GALNT2):c.1486C>T (p.Arg496Ter)
NM_152490.5(B3GALNT2):c.1487G>A (p.Arg496Gln) rs111541487
NM_152490.5(B3GALNT2):c.218C>G (p.Thr73Ser)
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) rs1572547857
NM_152490.5(B3GALNT2):c.383C>T (p.Ala128Val) rs1572539209
NM_152490.5(B3GALNT2):c.410C>T (p.Ser137Leu) rs140393851
NM_152490.5(B3GALNT2):c.436A>C (p.Ser146Arg)
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.46G>A (p.Ala16Thr)
NM_152490.5(B3GALNT2):c.493G>A (p.Asp165Asn)
NM_152490.5(B3GALNT2):c.500A>G (p.Asn167Ser) rs144123418
NM_152490.5(B3GALNT2):c.574C>T (p.Arg192Cys)
NM_152490.5(B3GALNT2):c.608A>G (p.Asn203Ser)
NM_152490.5(B3GALNT2):c.628G>A (p.Val210Met) rs781198538
NM_152490.5(B3GALNT2):c.629T>G (p.Val210Gly)
NM_152490.5(B3GALNT2):c.706A>G (p.Arg236Gly) rs113948040
NM_152490.5(B3GALNT2):c.727G>C (p.Val243Leu) rs755405777
NM_152490.5(B3GALNT2):c.73T>C (p.Ser25Pro)
NM_152490.5(B3GALNT2):c.790T>A (p.Phe264Ile) rs779469431
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) rs185213208
NM_152490.5(B3GALNT2):c.886C>T (p.Leu296Phe)
NM_152490.5(B3GALNT2):c.896A>G (p.His299Arg) rs955249712
NM_152490.5(B3GALNT2):c.959T>C (p.Ile320Thr) rs148808160

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