ClinVar Miner

List of variants studied for congenital vitreoretinal dysplasia by Invitae

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1189
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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.(?_235465599)_(235465734_?)del
NC_000001.11:g.(?_235470840)_(235470970_?)dup
NC_000003.11:g.(?_43121161)_(43122943_?)dup
NC_000003.12:g.(?_49121216)_(49533209_?)del
NC_000003.12:g.(?_49530787)_(49533209_?)del
NC_000007.13:g.(?_16341026)_(16348272_?)del
NC_000007.14:g.(?_16091675)_(16216217_?)del
NC_000007.14:g.(?_16091685)_(16091809_?)del
NC_000007.14:g.(?_16216046)_(16216217_?)del
NC_000007.14:g.(?_16216046)_(16376261_?)del
NC_000007.14:g.(?_16216056)_(16216207_?)del
NC_000007.14:g.(?_16258370)_(16259032_?)del
NC_000007.14:g.(?_16258380)_(16259022_?)del
NC_000007.14:g.(?_16301411)_(16308637_?)del
NC_000007.14:g.(?_16308513)_(16376251_?)del
NC_000007.14:g.(?_16308523)_(16689906_?)del
NC_000007.14:g.(?_16376072)_(16376261_?)del
NC_000007.14:g.(?_16406061)_(16406337_?)del
NC_000008.10:g.(?_42693095)_(42978030_?)dup
NC_000008.10:g.(?_42958672)_(42978040_?)dup
NC_000008.10:g.(?_42958682)_(42978030_?)dup
NC_000008.11:g.(?_43103539)_(43103840_?)del
NC_000009.11:g.(?_108337304)_(108358948_?)dup
NC_000009.12:g.(?_105546358)_(105620061_?)del
NC_000009.12:g.(?_105575023)_(105575147_?)del
NC_000009.12:g.(?_105575023)_(105635274_?)dup
NC_000009.12:g.(?_105606576)_(105641128_?)del
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.(?_46755431)_(46756958_?)del
NC_000019.10:g.(?_46755441)_(46756948_?)dup
NM_001077365.2(POMT1):c.1036C>T (p.Pro346Ser)
NM_001077365.2(POMT1):c.1047= (p.Asp349=) rs3739494
NM_001077365.2(POMT1):c.1052A>G (p.Asn351Ser)
NM_001077365.2(POMT1):c.1068A>G (p.Val356=) rs1280401262
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn) rs141229412
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620
NM_001077365.2(POMT1):c.1109C>T (p.Pro370Leu)
NM_001077365.2(POMT1):c.1116T>C (p.Pro372=) rs146945848
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299
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.1194C>A (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) rs1564364615
NM_001077365.2(POMT1):c.122+5G>A rs376753193
NM_001077365.2(POMT1):c.1229T>C (p.Ile410Thr) rs1554778053
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406
NM_001077365.2(POMT1):c.1272+2T>C rs1564365317
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=) rs753403833
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys) rs752384050
NM_001077365.2(POMT1):c.1349C>A (p.Thr450Asn)
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter) rs1554780670
NM_001077365.2(POMT1):c.1365+10C>T
NM_001077365.2(POMT1):c.1366-6C>T
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser) rs746849558
NM_001077365.2(POMT1):c.1399C>T (p.Arg467Trp)
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326
NM_001077365.2(POMT1):c.1439A>G (p.Tyr480Cys)
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=) rs373482514
NM_001077365.2(POMT1):c.1465_1467GAG[1] (p.Glu490del)
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653
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.1499G>A (p.Arg500Lys) rs117985576
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.1545C>G (p.Ser515Arg) rs150367385
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.1584+9C>T
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)
NM_001077365.2(POMT1):c.1671T>C (p.Ile557=) rs200969468
NM_001077365.2(POMT1):c.1671del (p.Ile557fs)
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751
NM_001077365.2(POMT1):c.1698+10C>A rs184131819
NM_001077365.2(POMT1):c.1698+1G>A rs763586263
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269
NM_001077365.2(POMT1):c.1705A>C (p.Ile569Leu)
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)
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.1798C>T (p.Arg600Ter) rs794727208
NM_001077365.2(POMT1):c.1823A>G (p.Gln608Arg) rs145021255
NM_001077365.2(POMT1):c.1826-6C>A rs140258585
NM_001077365.2(POMT1):c.1826-7C>A rs148180760
NM_001077365.2(POMT1):c.1826-7_1826-6delinsAA rs1064793740
NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs)
NM_001077365.2(POMT1):c.1838G>A (p.Arg613His) rs147601415
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566
NM_001077365.2(POMT1):c.1866C>T (p.Ala622=)
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser) rs756303645
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) rs149682171
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619
NM_001077365.2(POMT1):c.1938C>T (p.Pro646=)
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130
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.2031C>T (p.Ser677=) rs778418119
NM_001077365.2(POMT1):c.2058C>T (p.Ser686=) rs886043948
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) rs535544133
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln) rs141895982
NM_001077365.2(POMT1):c.2067C>T (p.His689=) 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.2097C>T (p.Tyr699=) rs138902646
NM_001077365.2(POMT1):c.2098G>T (p.Gly700Trp)
NM_001077365.2(POMT1):c.2101G>T (p.Asp701Tyr)
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524
NM_001077365.2(POMT1):c.2123A>T (p.Glu708Val)
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709
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.2168G>A (p.Arg723Gln) rs144051476
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094
NM_001077365.2(POMT1):c.246C>T (p.Phe82=) rs148887050
NM_001077365.2(POMT1):c.280+7_280+8del rs561658895
NM_001077365.2(POMT1):c.285C>T (p.Tyr95=) rs1554772428
NM_001077365.2(POMT1):c.328C>T (p.Leu110Phe) rs1338443127
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523
NM_001077365.2(POMT1):c.332C>T (p.Ala111Val) rs371531181
NM_001077365.2(POMT1):c.367G>T (p.Val123Leu)
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.414del (p.Leu138_Leu139insTer)
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.42C>T (p.Asp14=) rs150937126
NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser) rs182295674
NM_001077365.2(POMT1):c.516G>T (p.Lys172Asn)
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900
NM_001077365.2(POMT1):c.605+1G>C rs766648827
NM_001077365.2(POMT1):c.606del (p.Ile203fs)
NM_001077365.2(POMT1):c.629C>T (p.Thr210Met) rs377037072
NM_001077365.2(POMT1):c.639C>T (p.Leu213=) rs267602149
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.699+52C>T rs3887873
NM_001077365.2(POMT1):c.699+53= rs2296949
NM_001077365.2(POMT1):c.699+62del rs1356791510
NM_001077365.2(POMT1):c.700G>A (p.Val234Ile)
NM_001077365.2(POMT1):c.723C>T (p.Leu241=)
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.78G>A (p.Gly26=) rs149554732
NM_001077365.2(POMT1):c.803G>A (p.Arg268His) rs369644530
NM_001077365.2(POMT1):c.846C>T (p.Ala282=) rs886043307
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.876= (p.Thr292=) rs10901065
NM_001077365.2(POMT1):c.879G>T (p.Gln293His)
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) rs190112934
NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)
NM_001077365.2(POMT1):c.986+5G>A rs370096853
NM_001077365.2(POMT1):c.986+9A>G rs202095070
NM_001077365.2(POMT1):c.987-2A>C rs1453773610
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.102A>C (p.Thr34=) rs138740640
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)
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.1106del (p.Phe369fs) rs750176716
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_001079802.2(FKTN):c.1129A>G (p.Met377Val) rs1200757732
NM_001079802.2(FKTN):c.1135A>G (p.Asn379Asp)
NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)
NM_001079802.2(FKTN):c.1157C>T (p.Thr386Ile)
NM_001079802.2(FKTN):c.1158A>G (p.Thr386=) rs886044528
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.1174T>C (p.Tyr392His)
NM_001079802.2(FKTN):c.1178T>C (p.Leu393Pro) rs374962879
NM_001079802.2(FKTN):c.1185G>A (p.Pro395=) rs141886790
NM_001079802.2(FKTN):c.1196T>C (p.Leu399Pro)
NM_001079802.2(FKTN):c.1205C>T (p.Thr402Ile) rs371464705
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) rs146272618
NM_001079802.2(FKTN):c.1236C>A (p.Pro412=) rs1554766880
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)
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_001079802.2(FKTN):c.1298C>T (p.Thr433Met) rs201590151
NM_001079802.2(FKTN):c.12C>G (p.Ile4Met)
NM_001079802.2(FKTN):c.12C>T (p.Ile4=) 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.1336A>G (p.Asn446Asp) rs41313301
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) 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.1383T>C (p.Tyr461=)
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990
NM_001079802.2(FKTN):c.13A>G (p.Asn5Asp) rs765929865
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln)
NM_001079802.2(FKTN):c.14A>G (p.Asn5Ser) rs751473818
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171
NM_001079802.2(FKTN):c.170C>T (p.Ala57Val) rs1554751104
NM_001079802.2(FKTN):c.198C>G (p.Ser66=) rs367868644
NM_001079802.2(FKTN):c.21C>T (p.Asn7=) rs564632018
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.285T>C (p.His95=) rs148046151
NM_001079802.2(FKTN):c.292A>G (p.Thr98Ala)
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)
NM_001079802.2(FKTN):c.300A>G (p.Gln100=)
NM_001079802.2(FKTN):c.301T>C (p.Cys101Arg) rs886044095
NM_001079802.2(FKTN):c.30G>A (p.Leu10=) rs202047149
NM_001079802.2(FKTN):c.329_330del (p.Phe110fs)
NM_001079802.2(FKTN):c.333T>C (p.Thr111=) rs141729611
NM_001079802.2(FKTN):c.342A>G (p.Ala114=) rs368598407
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter) rs119463991
NM_001079802.2(FKTN):c.34C>G (p.Leu12Val) rs939985733
NM_001079802.2(FKTN):c.355C>T (p.Leu119=) rs1554751390
NM_001079802.2(FKTN):c.357A>G (p.Leu119=) rs760933616
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675
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.402A>T (p.Gly134=) rs780921233
NM_001079802.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs) rs1564290459
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met) rs149033995
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939
NM_001079802.2(FKTN):c.444C>T (p.Asp148=) rs759808323
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)
NM_001079802.2(FKTN):c.545A>G (p.Asn182Ser)
NM_001079802.2(FKTN):c.556C>T (p.His186Tyr)
NM_001079802.2(FKTN):c.569G>A (p.Arg190Lys)
NM_001079802.2(FKTN):c.584T>C (p.Ile195Thr)
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.607C>T (p.Arg203Ter) rs746763506
NM_001079802.2(FKTN):c.623G>A (p.Gly208Asp) rs778048703
NM_001079802.2(FKTN):c.63G>C (p.Leu21=) rs766642997
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.643G>C (p.Asp215His) rs745975808
NM_001079802.2(FKTN):c.658C>T (p.Gln220Ter)
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625
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.766C>A (p.Arg256=) rs377417974
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)
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)
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.855G>A (p.Ala285=) rs1057521448
NM_001079802.2(FKTN):c.868A>T (p.Lys290Ter)
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516
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.919C>T (p.Arg307Ter) rs267606814
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992
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)
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.1017T>C (p.Val339=) rs773884120
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904
NM_001101426.4(CRPPA):c.1120-10T>C
NM_001101426.4(CRPPA):c.1120-1G>T rs397515396
NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr) rs762217429
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=) rs761842188
NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser) rs373134516
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.171G>A (p.Gly57=)
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.243A>G (p.Leu81=) rs763209907
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.262T>C (p.Cys88Arg)
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val) rs762370550
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398
NM_001101426.4(CRPPA):c.315G>T (p.Met105Ile)
NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile) rs199691459
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487
NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln) rs1356080750
NM_001101426.4(CRPPA):c.360C>G (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789
NM_001101426.4(CRPPA):c.408A>G (p.Ala136=) rs541412708
NM_001101426.4(CRPPA):c.531C>T (p.His177=) rs376195897
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg) rs202108204
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302
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)
NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys)
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=) rs532057629
NM_001101426.4(CRPPA):c.646G>T (p.Ala216Ser)
NM_001101426.4(CRPPA):c.674C>G (p.Ala225Gly)
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645
NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu) rs770257307
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter)
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.828T>C (p.Ile276=) rs201334104
NM_001101426.4(CRPPA):c.835+2T>C rs773325665
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.874_886del (p.Glu292fs) rs1554305719
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262
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.915G>A (p.Val305=) rs1466053365
NM_001101426.4(CRPPA):c.933+3A>G rs377582530
NM_001101426.4(CRPPA):c.934-5A>G rs886043337
NM_001101426.4(CRPPA):c.945C>T (p.Val315=) rs1554300356
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936
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_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665
NM_001165928.3(DAG1):c.1111C>T (p.Arg371Trp)
NM_001165928.3(DAG1):c.1181G>A (p.Gly394Asp)
NM_001165928.3(DAG1):c.1287A>G (p.Val429=)
NM_001165928.3(DAG1):c.1752C>A (p.Gly584=)
NM_001165928.3(DAG1):c.1785C>T (p.Val595=)
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.2231G>C (p.Ser744Thr) rs114357468
NM_001165928.3(DAG1):c.227G>A (p.Arg76His)
NM_001165928.3(DAG1):c.229T>C (p.Ser77Pro)
NM_001165928.3(DAG1):c.2322C>T (p.Cys774=)
NM_001165928.3(DAG1):c.243C>G (p.Thr81=)
NM_001165928.3(DAG1):c.2451C>G (p.Leu817=)
NM_001165928.3(DAG1):c.2600C>T (p.Pro867Leu)
NM_001165928.3(DAG1):c.285+1G>A
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.636C>T (p.His212=)
NM_001165928.3(DAG1):c.643C>T (p.Arg215Trp)
NM_001165928.3(DAG1):c.751del (p.Val251fs)
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.1026C>T (p.Pro342=) rs1553652858
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)
NM_004393.6(DAG1):c.1182C>T (p.Gly394=)
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.1212G>A (p.Thr404=) rs139781017
NM_004393.6(DAG1):c.1215G>A (p.Met405Ile) rs141238609
NM_004393.6(DAG1):c.1233G>A (p.Val411=) rs145765079
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.1308G>A (p.Thr436=) rs143763229
NM_004393.6(DAG1):c.1360C>T (p.Arg454Trp) rs369872091
NM_004393.6(DAG1):c.1369C>T (p.Arg457Trp)
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.1641C>T (p.Gly547=) rs374490206
NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile) rs199894361
NM_004393.6(DAG1):c.1701C>T (p.Ser567=) rs142579425
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.1773C>T (p.Phe591=) rs2229010
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)
NM_004393.6(DAG1):c.183T>C (p.Val61=) rs775928044
NM_004393.6(DAG1):c.1847C>T (p.Pro616Leu)
NM_004393.6(DAG1):c.185C>T (p.Pro62Leu) rs375938350
NM_004393.6(DAG1):c.1905C>T (p.Phe635=) rs577609846
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)
NM_004393.6(DAG1):c.2023G>A (p.Ala675Thr)
NM_004393.6(DAG1):c.2036G>A (p.Arg679His) rs113904914
NM_004393.6(DAG1):c.2044G>A (p.Ala682Thr)
NM_004393.6(DAG1):c.2082C>T (p.Asn694=) rs146453412
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.2271C>T (p.Ala757=) rs78281659
NM_004393.6(DAG1):c.2303G>T (p.Gly768Val) rs1553653701
NM_004393.6(DAG1):c.2313C>T (p.Ala771=) rs764289801
NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys) rs752441031
NM_004393.6(DAG1):c.2336G>A (p.Arg779Gln)
NM_004393.6(DAG1):c.2342G>A (p.Gly781Asp)
NM_004393.6(DAG1):c.235C>T (p.Arg79Ter)
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.2415C>T (p.Asp805=) rs749427996
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.24G>A (p.Ser8=) rs1229832209
NM_004393.6(DAG1):c.2511C>T (p.Pro837=) rs778665335
NM_004393.6(DAG1):c.2512G>A (p.Glu838Lys)
NM_004393.6(DAG1):c.2520T>C (p.Thr840=) rs149564053
NM_004393.6(DAG1):c.2536A>C (p.Thr846Pro)
NM_004393.6(DAG1):c.2552C>T (p.Thr851Met)
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.258G>C (p.Leu86Phe) rs145403829
NM_004393.6(DAG1):c.259A>G (p.Ile87Val) rs116717961
NM_004393.6(DAG1):c.2635C>T (p.Arg879Cys)
NM_004393.6(DAG1):c.268A>G (p.Ser90Gly) rs140454570
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr) rs149218670
NM_004393.6(DAG1):c.286-10del rs747305463
NM_004393.6(DAG1):c.294G>A (p.Ala98=) rs752506833
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107
NM_004393.6(DAG1):c.384G>T (p.Val128=) rs143829263
NM_004393.6(DAG1):c.402C>T (p.Ser134=) rs367603470
NM_004393.6(DAG1):c.41= (p.Ser14=) rs1553648360
NM_004393.6(DAG1):c.424G>A (p.Gly142Arg) rs749962207
NM_004393.6(DAG1):c.440del (p.Gln147fs) rs1553652503
NM_004393.6(DAG1):c.454_467del (p.Phe152fs) rs1553652513
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.510C>A (p.Ala170=)
NM_004393.6(DAG1):c.575C>T (p.Thr192Met) rs193922955
NM_004393.6(DAG1):c.576G>A (p.Thr192=)
NM_004393.6(DAG1):c.57C>T (p.Leu19=) rs768105958
NM_004393.6(DAG1):c.591C>T (p.Ala197=) rs768487898
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser) rs41290704
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.829G>A (p.Val277Ile) rs375892170
NM_004393.6(DAG1):c.854C>T (p.Ala285Val)
NM_004393.6(DAG1):c.902A>G (p.Asn301Ser) rs745559790
NM_004393.6(DAG1):c.927C>T (p.Arg309=) rs551679833
NM_004393.6(DAG1):c.928G>A (p.Val310Ile)
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.1023G>T (p.Pro341=)
NM_006731.2(FKTN):c.106-10G>A rs148384394
NM_006731.2(FKTN):c.1173-8T>C rs767093535
NM_006731.2(FKTN):c.1185G>T (p.Pro395=)
NM_006731.2(FKTN):c.1218C>T (p.Asp406=)
NM_006731.2(FKTN):c.166-4A>G rs193922689
NM_006731.2(FKTN):c.166-6A>G rs41277795
NM_006731.2(FKTN):c.207T>C (p.Asn69=)
NM_006731.2(FKTN):c.369+4A>G
NM_006731.2(FKTN):c.369+6T>G rs1554751423
NM_006731.2(FKTN):c.432del (p.Arg146fs)
NM_006731.2(FKTN):c.558C>T (p.His186=)
NM_006731.2(FKTN):c.780+2T>C
NM_006731.2(FKTN):c.781-4G>A
NM_006731.2(FKTN):c.781-9T>C rs370564232
NM_006731.2(FKTN):c.911-8C>A rs749557617
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.1161G>A (p.Glu387=) rs139287952
NM_006876.3(B4GAT1):c.1206G>A (p.Gln402=) rs771065781
NM_006876.3(B4GAT1):c.152C>T (p.Pro51Leu)
NM_006876.3(B4GAT1):c.162G>T (p.Arg54=)
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.196G>A (p.Ala66Thr) rs765114036
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) rs201892419
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=)
NM_006876.3(B4GAT1):c.514G>C (p.Glu172Gln)
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.69G>C (p.Ala23=) rs146812867
NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser) rs35429253
NM_006876.3(B4GAT1):c.772C>G (p.Pro258Ala)
NM_006876.3(B4GAT1):c.780C>T (p.Phe260=) rs1319732212
NM_006876.3(B4GAT1):c.828G>T (p.Val276=) rs142956522
NM_006876.3(B4GAT1):c.924G>A (p.Pro308=) rs200574075
NM_006876.3(B4GAT1):c.980C>A (p.Pro327Gln) rs1555016420
NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu)
NM_006876.3(B4GAT1):c.987C>T (p.Tyr329=) rs1190625
NM_006876.3(B4GAT1):c.994G>A (p.Gly332Arg)
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) rs139830891
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.1206A>C (p.Pro402=) rs142479943
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.1262G>A (p.Arg421Gln) rs151078549
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.1293dup (p.Met432fs) rs1555352706
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.1332+6_1332+9del rs781093215
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.1383A>G (p.Arg461=) rs2270419
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.1404A>G (p.Lys468=) rs150491326
NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter) rs368817785
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.1485-2_1485-1del rs1185491348
NM_013382.5(POMT2):c.1485-4A>C rs794727127
NM_013382.5(POMT2):c.148C>G (p.Arg50Gly) rs550420394
NM_013382.5(POMT2):c.14C>G (p.Thr5Arg)
NM_013382.5(POMT2):c.1512C>T (p.Cys504=) rs775728269
NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp) rs117173425
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.1593G>A (p.Leu531=) rs147934334
NM_013382.5(POMT2):c.1599G>A (p.Val533=)
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.161C>A (p.Ala54Glu) rs8177536
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.1683T>C (p.Asn561=) rs146307965
NM_013382.5(POMT2):c.1691C>T (p.Thr564Met) rs142445941
NM_013382.5(POMT2):c.1701C>G (p.Pro567=) rs151051452
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.1752_1753CA[1] (p.Thr585fs) rs1555351894
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.1881G>A (p.Ala627=) rs146588608
NM_013382.5(POMT2):c.1903G>A (p.Val635Ile) rs142299878
NM_013382.5(POMT2):c.1911G>T (p.Leu637=) rs3209079
NM_013382.5(POMT2):c.1920C>T (p.Gly640=) rs150755807
NM_013382.5(POMT2):c.1935C>T (p.Leu645=) rs141193672
NM_013382.5(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.5(POMT2):c.1959G>A (p.Pro653=) rs775222771
NM_013382.5(POMT2):c.1975C>T (p.Arg659Trp)
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_013382.5(POMT2):c.2057G>A (p.Arg686Gln) rs200163818
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.2175C>T (p.Tyr725=) rs116434191
NM_013382.5(POMT2):c.2182G>A (p.Val728Ile) rs1367401943
NM_013382.5(POMT2):c.2223A>G (p.Gly741=) rs554801559
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) rs746662519
NM_013382.5(POMT2):c.248+1G>C rs961440747
NM_013382.5(POMT2):c.248+9T>C
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.339G>A (p.Leu113=)
NM_013382.5(POMT2):c.344G>C (p.Gly115Ala)
NM_013382.5(POMT2):c.346C>T (p.Leu116Phe)
NM_013382.5(POMT2):c.36C>A (p.Ser12=)
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.567G>A (p.Leu189=) rs780313126
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) rs376485603
NM_013382.5(POMT2):c.642C>A (p.Asn214Lys)
NM_013382.5(POMT2):c.648C>A (p.Cys216Ter) rs147871747
NM_013382.5(POMT2):c.648C>T (p.Cys216=) rs147871747
NM_013382.5(POMT2):c.649G>A (p.Ala217Thr) rs144748043
NM_013382.5(POMT2):c.651C>T (p.Ala217=) rs147845081
NM_013382.5(POMT2):c.652G>A (p.Asp218Asn) rs140785104
NM_013382.5(POMT2):c.656+3C>G rs561052172
NM_013382.5(POMT2):c.658C>T (p.Pro220Ser) rs771201662
NM_013382.5(POMT2):c.66C>T (p.Gly22=) rs200670377
NM_013382.5(POMT2):c.673del (p.Trp225fs)
NM_013382.5(POMT2):c.685C>T (p.Leu229Phe)
NM_013382.5(POMT2):c.816+8C>T
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.846T>A (p.Arg282=) rs750579071
NM_013382.5(POMT2):c.84C>T (p.Ala28=) rs771031903
NM_013382.5(POMT2):c.871C>G (p.Leu291Val) rs764015186
NM_013382.5(POMT2):c.884C>G (p.Thr295Arg) rs794727871
NM_013382.5(POMT2):c.924-10C>T rs142122657
NM_013382.5(POMT2):c.924-2A>C rs886044256
NM_013382.5(POMT2):c.936C>T (p.Asp312=)
NM_013382.5(POMT2):c.958C>T (p.Gln320Ter) rs775932206
NM_013382.7(POMT2):c.1000C>T (p.Pro334Ser)
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp) rs141339355
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)
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.1226A>G (p.Glu409Gly) rs141536395
NM_014254.3(RXYLT1):c.126C>G (p.Gly42=)
NM_014254.3(RXYLT1):c.1272G>A (p.Glu424=) rs536862073
NM_014254.3(RXYLT1):c.144C>G (p.Ala48=)
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.170-1del rs1565898123
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.43C>T (p.Leu15=) rs770861350
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.603C>T (p.Leu201=) rs146732392
NM_014254.3(RXYLT1):c.604G>A (p.Gly202Arg)
NM_014254.3(RXYLT1):c.649del (p.Arg217fs) rs948674144
NM_014254.3(RXYLT1):c.743+1G>A rs778174763
NM_014254.3(RXYLT1):c.914+6T>G rs748809209
NM_014254.3(RXYLT1):c.920A>G (p.Gln307Arg) rs866198592
NM_014254.3(RXYLT1):c.970C>T (p.Gln324Ter) rs1555228198
NM_024301.5(FKRP):c.-39-2934_564del
NM_024301.5(FKRP):c.1000G>A (p.Glu334Lys)
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) rs776947530
NM_024301.5(FKRP):c.1008G>C (p.Ala336=)
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) rs1322997651
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928
NM_024301.5(FKRP):c.1057C>T (p.His353Tyr)
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195
NM_024301.5(FKRP):c.1077_1078dup (p.Asp360fs) rs1568419860
NM_024301.5(FKRP):c.1083C>A (p.Tyr361Ter) rs1060502109
NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr) rs1555739020
NM_024301.5(FKRP):c.1119C>A (p.Gly373=)
NM_024301.5(FKRP):c.111G>A (p.Arg37=)
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro)
NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu)
NM_024301.5(FKRP):c.113G>A (p.Gly38Glu)
NM_024301.5(FKRP):c.1140G>A (p.Gly380=) rs552260353
NM_024301.5(FKRP):c.1141G>C (p.Ala381Pro) rs1031408738
NM_024301.5(FKRP):c.1141G>T (p.Ala381Ser)
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.114G>T (p.Gly38=) rs878855079
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) rs104894680
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu) rs104894680
NM_024301.5(FKRP):c.1155G>A (p.Ser385=) rs369432328
NM_024301.5(FKRP):c.1173C>T (p.Gly391=)
NM_024301.5(FKRP):c.1174T>A (p.Phe392Ile) rs1269819838
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502
NM_024301.5(FKRP):c.1179A>G (p.Val393=) rs145894568
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.1224C>T (p.Ser408=) rs779487099
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu) rs201497063
NM_024301.5(FKRP):c.1236C>G (p.His412Gln)
NM_024301.5(FKRP):c.1236C>T (p.His412=) rs201076863
NM_024301.5(FKRP):c.1257C>T (p.Pro419=)
NM_024301.5(FKRP):c.125C>G (p.Ala42Gly)
NM_024301.5(FKRP):c.1266C>G (p.Pro422=)
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.1296G>A (p.Trp432Ter)
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.1317G>A (p.Val439=) rs757615255
NM_024301.5(FKRP):c.1320G>A (p.Glu440=)
NM_024301.5(FKRP):c.1358C>T (p.Pro453Leu)
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) rs747785577
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.1383G>T (p.Ala461=) rs759585825
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110
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.1405C>T (p.Leu469=) rs143129484
NM_024301.5(FKRP):c.142del (p.Arg48fs) rs1555738103
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.1440C>T (p.Asn480=) rs115365212
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.1465C>T (p.Leu489=)
NM_024301.5(FKRP):c.1475C>T (p.Thr492Met)
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682
NM_024301.5(FKRP):c.151G>A (p.Val51Ile) rs769377092
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) rs1290836394
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024301.5(FKRP):c.168C>T (p.Phe56=)
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.192C>T (p.Pro64=) rs111754012
NM_024301.5(FKRP):c.206C>T (p.Ser69Phe) rs1555738197
NM_024301.5(FKRP):c.210C>T (p.Phe70=) rs569336346
NM_024301.5(FKRP):c.232C>T (p.Pro78Ser) rs747511445
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331
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.312C>T (p.Leu104=)
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528
NM_024301.5(FKRP):c.360C>T (p.Tyr120=) rs781576638
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)
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.427C>A (p.Arg143Ser) rs148206382
NM_024301.5(FKRP):c.430A>G (p.Met144Val) rs1568418007
NM_024301.5(FKRP):c.442C>A (p.Leu148Ile)
NM_024301.5(FKRP):c.444C>T (p.Leu148=)
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.456C>T (p.Ser152=) 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.491A>G (p.Asn164Ser)
NM_024301.5(FKRP):c.4C>T (p.Arg2Trp)
NM_024301.5(FKRP):c.511C>G (p.Leu171Val) rs766747690
NM_024301.5(FKRP):c.516C>T (p.Asn172=) rs970724879
NM_024301.5(FKRP):c.517G>A (p.Val173Ile) rs1322879846
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647
NM_024301.5(FKRP):c.52C>T (p.Leu18Phe) rs1226848053
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208
NM_024301.5(FKRP):c.537C>G (p.Thr179=)
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.545A>G (p.Tyr182Cys) rs543163491
NM_024301.5(FKRP):c.54T>A (p.Leu18=) rs565563742
NM_024301.5(FKRP):c.551C>T (p.Ala184Val)
NM_024301.5(FKRP):c.554C>T (p.Ala185Val) rs1032563159
NM_024301.5(FKRP):c.555C>T (p.Ala185=) rs1057523657
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.567C>T (p.Pro189=) rs201454433
NM_024301.5(FKRP):c.582G>A (p.Leu194=) rs771223960
NM_024301.5(FKRP):c.582G>C (p.Leu194=) rs771223960
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.597G>T (p.Val199=) rs1360004383
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.606G>A (p.Leu202=) rs140084192
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.636G>A (p.Ala212=) rs370099812
NM_024301.5(FKRP):c.640C>G (p.Leu214Val)
NM_024301.5(FKRP):c.654G>A (p.Val218=)
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser) rs878855080
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys)
NM_024301.5(FKRP):c.699G>A (p.Val233=) rs764527541
NM_024301.5(FKRP):c.706C>G (p.Leu236Val) rs754347622
NM_024301.5(FKRP):c.717C>T (p.Thr239=) rs762375285
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488
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.750G>T (p.Thr250=)
NM_024301.5(FKRP):c.757G>T (p.Ala253Ser) rs959679901
NM_024301.5(FKRP):c.75G>A (p.Ser25=)
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.822C>G (p.Ile274Met) rs77138370
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900
NM_024301.5(FKRP):c.828A>G (p.Leu276=) rs745994685
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.885C>T (p.Arg295=) rs769005880
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) rs762283381
NM_024301.5(FKRP):c.912G>A (p.Thr304=) rs1301337774
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_024301.5(FKRP):c.933G>C (p.Glu311Asp)
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) rs752582904
NM_024301.5(FKRP):c.948del (p.Cys317fs)
NM_024301.5(FKRP):c.954C>T (p.Cys318=) rs755968761
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936
NM_024301.5(FKRP):c.969C>T (p.Arg323=) rs532054402
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) rs886044183
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_024301.5(FKRP):c.9C>T (p.Leu3=)
NM_032237.5(POMK):c.1006G>A (p.Asp336Asn) rs113361507
NM_032237.5(POMK):c.1013T>G (p.Leu338Arg) rs200555259
NM_032237.5(POMK):c.1024A>G (p.Met342Val) rs762404960
NM_032237.5(POMK):c.10C>T (p.Gln4Ter)
NM_032237.5(POMK):c.129C>T (p.Ile43=)
NM_032237.5(POMK):c.142T>C (p.Ser48Pro) rs34466747
NM_032237.5(POMK):c.168C>G (p.Pro56=)
NM_032237.5(POMK):c.20A>G (p.Asn7Ser) rs143957574
NM_032237.5(POMK):c.219C>G (p.Ser73=) rs188920070
NM_032237.5(POMK):c.222C>T (p.Cys74=)
NM_032237.5(POMK):c.238_239del (p.Glu80fs) rs1454006905
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)
NM_032237.5(POMK):c.282+8C>T
NM_032237.5(POMK):c.373A>T (p.Met125Leu) rs146303063
NM_032237.5(POMK):c.407C>T (p.Thr136Met) rs138216719
NM_032237.5(POMK):c.408G>A (p.Thr136=)
NM_032237.5(POMK):c.44G>A (p.Arg15Gln)
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.541C>T (p.Leu181=)
NM_032237.5(POMK):c.564C>T (p.Ile188=) rs55724435
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) rs146214675
NM_032237.5(POMK):c.599G>T (p.Arg200Leu)
NM_032237.5(POMK):c.609C>T (p.Cys203=) rs567303957
NM_032237.5(POMK):c.618C>T (p.Asn206=) rs7005111
NM_032237.5(POMK):c.619G>A (p.Asp207Asn)
NM_032237.5(POMK):c.620A>G (p.Asp207Gly)
NM_032237.5(POMK):c.624G>C (p.Leu208=) rs34040483
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.714C>T (p.Ser238=) rs148949414
NM_032237.5(POMK):c.715G>A (p.Gly239Arg)
NM_032237.5(POMK):c.719T>C (p.Met240Thr)
NM_032237.5(POMK):c.732C>T (p.Cys244=)
NM_032237.5(POMK):c.760G>A (p.Val254Met) rs34715198
NM_032237.5(POMK):c.76A>C (p.Ile26Leu)
NM_032237.5(POMK):c.773A>G (p.Gln258Arg) rs397509386
NM_032237.5(POMK):c.775C>T (p.Leu259=)
NM_032237.5(POMK):c.795C>T (p.Asp265=) rs36071326
NM_032237.5(POMK):c.833A>G (p.Glu278Gly)
NM_032237.5(POMK):c.882G>A (p.Gly294=) rs56282240
NM_032237.5(POMK):c.883C>T (p.His295Tyr) rs1554524387
NM_032237.5(POMK):c.886A>G (p.Ile296Val) rs6990761
NM_032237.5(POMK):c.902T>C (p.Met301Thr) rs33920561
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.1000_1003del (p.Leu334fs)
NM_032806.6(POMGNT2):c.1007G>A (p.Ser336Asn)
NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser) rs200535361
NM_032806.6(POMGNT2):c.1042C>T (p.Gln348Ter)
NM_032806.6(POMGNT2):c.1070G>A (p.Arg357His)
NM_032806.6(POMGNT2):c.1113C>T (p.Pro371=) rs772146015
NM_032806.6(POMGNT2):c.1114G>A (p.Asp372Asn) rs147129872
NM_032806.6(POMGNT2):c.1122C>T (p.Tyr374=)
NM_032806.6(POMGNT2):c.1123A>G (p.Thr375Ala)
NM_032806.6(POMGNT2):c.1137G>A (p.Thr379=)
NM_032806.6(POMGNT2):c.1162C>T (p.Leu388Phe) rs139060322
NM_032806.6(POMGNT2):c.1180C>G (p.Arg394Gly)
NM_032806.6(POMGNT2):c.1181G>A (p.Arg394Gln)
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.1233G>A (p.Gln411=) rs9811883
NM_032806.6(POMGNT2):c.1234G>T (p.Gly412Trp)
NM_032806.6(POMGNT2):c.1249C>A (p.Leu417Met)
NM_032806.6(POMGNT2):c.1276C>T (p.Leu426=)
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)
NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp) rs147175064
NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu) rs34083889
NM_032806.6(POMGNT2):c.1387C>T (p.Arg463Cys)
NM_032806.6(POMGNT2):c.1388G>A (p.Arg463His) rs143394182
NM_032806.6(POMGNT2):c.1390G>A (p.Val464Met)
NM_032806.6(POMGNT2):c.1392G>C (p.Val464=)
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.1488C>T (p.Gly496=) rs35207939
NM_032806.6(POMGNT2):c.1514C>G (p.Ser505Cys) rs144799574
NM_032806.6(POMGNT2):c.153C>T (p.Ile51=) rs149543151
NM_032806.6(POMGNT2):c.1567G>A (p.Glu523Lys)
NM_032806.6(POMGNT2):c.1602C>T (p.Tyr534=) rs143832191
NM_032806.6(POMGNT2):c.161C>T (p.Pro54Leu)
NM_032806.6(POMGNT2):c.1660A>G (p.Thr554Ala) rs202058055
NM_032806.6(POMGNT2):c.1669C>T (p.Leu557=) rs1477248373
NM_032806.6(POMGNT2):c.1687A>G (p.Ile563Val)
NM_032806.6(POMGNT2):c.1716T>G (p.Phe572Leu)
NM_032806.6(POMGNT2):c.181A>G (p.Met61Val)
NM_032806.6(POMGNT2):c.195A>G (p.Thr65=)
NM_032806.6(POMGNT2):c.204G>A (p.Val68=)
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.239G>A (p.Arg80His) rs146511234
NM_032806.6(POMGNT2):c.25G>A (p.Ala9Thr)
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)
NM_032806.6(POMGNT2):c.30C>T (p.Leu10=) rs147920308
NM_032806.6(POMGNT2):c.332G>A (p.Arg111His) rs778907895
NM_032806.6(POMGNT2):c.352G>A (p.Asp118Asn)
NM_032806.6(POMGNT2):c.363C>T (p.Thr121=)
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290
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.396C>T (p.Phe132=)
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.422G>A (p.Arg141His) rs576598140
NM_032806.6(POMGNT2):c.437C>T (p.Pro146Leu)
NM_032806.6(POMGNT2):c.438G>A (p.Pro146=) rs375314883
NM_032806.6(POMGNT2):c.442T>C (p.Phe148Leu)
NM_032806.6(POMGNT2):c.445G>A (p.Val149Met)
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=) rs142190930
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.459C>T (p.Ala153=)
NM_032806.6(POMGNT2):c.465C>T (p.Ile155=) rs140578716
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) rs201333414
NM_032806.6(POMGNT2):c.510C>T (p.Asp170=)
NM_032806.6(POMGNT2):c.528C>T (p.Phe176=) rs777276517
NM_032806.6(POMGNT2):c.537G>C (p.Leu179=) rs149932476
NM_032806.6(POMGNT2):c.538C>T (p.Arg180Trp)
NM_032806.6(POMGNT2):c.561C>T (p.His187=) rs147429438
NM_032806.6(POMGNT2):c.569G>A (p.Arg190Gln) rs200080447
NM_032806.6(POMGNT2):c.576C>T (p.Phe192=) rs755626367
NM_032806.6(POMGNT2):c.582G>T (p.Met194Ile)
NM_032806.6(POMGNT2):c.588C>T (p.Gly196=)
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)
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.674G>A (p.Arg225Gln) rs138980930
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)
NM_032806.6(POMGNT2):c.748C>A (p.Pro250Thr)
NM_032806.6(POMGNT2):c.762G>A (p.Lys254=) rs115870061
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.780A>G (p.Ser260=) rs371749889
NM_032806.6(POMGNT2):c.793C>T (p.Arg265Trp) rs753736893
NM_032806.6(POMGNT2):c.799T>A (p.Phe267Ile)
NM_032806.6(POMGNT2):c.81G>A (p.Glu27=) rs201572917
NM_032806.6(POMGNT2):c.828C>T (p.Asn276=) rs150404794
NM_032806.6(POMGNT2):c.829G>A (p.Val277Met)
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) 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.966C>G (p.Ser322=) rs141319921
NM_032806.6(POMGNT2):c.979A>C (p.Thr327Pro)
NM_032806.6(POMGNT2):c.994G>A (p.Val332Met) rs549430013
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) rs773864097
NM_152490.5(B3GALNT2):c.102C>G (p.Ala34=) rs1358930332
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.1089C>T (p.Leu363=) rs1057522976
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.112+10T>G
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)
NM_152490.5(B3GALNT2):c.1215C>T (p.Pro405=) rs145518904
NM_152490.5(B3GALNT2):c.1216G>A (p.Ala406Thr) rs369079608
NM_152490.5(B3GALNT2):c.1223del (p.Pro408fs) rs1553342786
NM_152490.5(B3GALNT2):c.1311+1G>C
NM_152490.5(B3GALNT2):c.1311+9_1311+11del
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)
NM_152490.5(B3GALNT2):c.1433C>T (p.Pro478Leu)
NM_152490.5(B3GALNT2):c.1445C>T (p.Thr482Met) rs541697587
NM_152490.5(B3GALNT2):c.1468C>T (p.Arg490Trp)
NM_152490.5(B3GALNT2):c.1474G>A (p.Gly492Ser)
NM_152490.5(B3GALNT2):c.1486C>T (p.Arg496Ter)
NM_152490.5(B3GALNT2):c.1487G>A (p.Arg496Gln) rs111541487
NM_152490.5(B3GALNT2):c.152A>G (p.Tyr51Cys) rs61742900
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842
NM_152490.5(B3GALNT2):c.199C>T (p.Arg67Ter)
NM_152490.5(B3GALNT2):c.218C>G (p.Thr73Ser)
NM_152490.5(B3GALNT2):c.249A>T (p.Thr83=) rs770930732
NM_152490.5(B3GALNT2):c.259C>G (p.Arg87Gly) rs747653180
NM_152490.5(B3GALNT2):c.276C>T (p.Phe92=) rs114039725
NM_152490.5(B3GALNT2):c.279A>C (p.Ile93=) rs148341787
NM_152490.5(B3GALNT2):c.29C>G (p.Pro10Arg) rs1335073175
NM_152490.5(B3GALNT2):c.30G>A (p.Pro10=) rs986453979
NM_152490.5(B3GALNT2):c.321G>A (p.Glu107=) rs291396
NM_152490.5(B3GALNT2):c.347A>G (p.Asn116Ser)
NM_152490.5(B3GALNT2):c.369T>C (p.Asn123=) rs149734145
NM_152490.5(B3GALNT2):c.383C>T (p.Ala128Val)
NM_152490.5(B3GALNT2):c.397G>A (p.Glu133Lys) rs146090744
NM_152490.5(B3GALNT2):c.402C>T (p.Asp134=) rs144848710
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.448C>T (p.Arg150Ter) rs1282726649
NM_152490.5(B3GALNT2):c.458A>T (p.Tyr153Phe) rs757111780
NM_152490.5(B3GALNT2):c.465C>T (p.Ile155=) rs138058326
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)
NM_152490.5(B3GALNT2):c.574C>T (p.Arg192Cys)
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His) rs201345883
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.652-2A>G rs1553347936
NM_152490.5(B3GALNT2):c.699T>C (p.Leu233=)
NM_152490.5(B3GALNT2):c.699del (p.Val234fs)
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.762+1G>A rs757347274
NM_152490.5(B3GALNT2):c.790T>A (p.Phe264Ile)
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) rs367543074
NM_152490.5(B3GALNT2):c.81G>T (p.Pro27=) rs766891631
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152490.5(B3GALNT2):c.842-1G>C
NM_152490.5(B3GALNT2):c.842-3T>G rs1247622470
NM_152490.5(B3GALNT2):c.842-4A>G rs750335648
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe)
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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