ClinVar Miner

List of variants studied for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1311
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HGVS dbSNP
LARGE1, 63-KB DEL
LARGE1, GLN87FS
NC_000001.10:g.(?_235613501)_(235667572_?)dup
NC_000001.10:g.(?_235613511)_(235667562_?)dup
NC_000001.10:g.(?_235628916)_(235629051_?)del
NC_000003.11:g.(?_43121161)_(43122943_?)dup
NC_000007.13:g.(?_16131300)_(16255842_?)del
NC_000007.13:g.(?_16131310)_(16131434_?)del
NC_000007.13:g.(?_16255671)_(16255842_?)del
NC_000007.13:g.(?_16255671)_(16415886_?)del
NC_000007.13:g.(?_16255681)_(16255832_?)del
NC_000007.13:g.(?_16297995)_(16298657_?)del
NC_000007.13:g.(?_16298005)_(16298647_?)del
NC_000007.13:g.(?_16341026)_(16348272_?)del
NC_000007.13:g.(?_16341036)_(16348262_?)del
NC_000007.13:g.(?_16348138)_(16415876_?)del
NC_000007.13:g.(?_16348148)_(16729531_?)del
NC_000007.13:g.(?_16415697)_(16415886_?)del
NC_000008.10:g.(?_42693095)_(42978030_?)dup
NC_000008.10:g.(?_42958672)_(42978040_?)dup
NC_000008.10:g.(?_42958682)_(42958983_?)del
NC_000008.10:g.(?_42958682)_(42978030_?)dup
NC_000009.11:g.(?_108308639)_(108382342_?)del
NC_000009.11:g.(?_108337304)_(108358948_?)dup
NC_000012.11:g.(?_64198994)_(64199204_?)dup
NC_000019.9:g.(?_47258688)_(47260215_?)del
NM_001077365.2(POMT1):c.699+52C>T rs3887873
NM_001079802.1(FKTN):c.528dupT
NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526del
NM_001101426.3(CRPPA):c.535-?_933+?del
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.1105_1107GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.1120-1G>T rs397515396
NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr)
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803
NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser) rs373134516
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)
NM_001101426.4(CRPPA):c.13C>T (p.Pro5Ser) rs1037010291
NM_001101426.4(CRPPA):c.160G>T (p.Gly54Trp)
NM_001101426.4(CRPPA):c.193C>A (p.Pro65Thr)
NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro) rs886043637
NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr) rs1292380177
NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter) rs397514548
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
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.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>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro) rs387907162
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.466G>A (p.Asp156Asn) rs397514547
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg) rs202108204
NM_001101426.4(CRPPA):c.534+13T>A rs6461252
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) rs7782939
NM_001101426.4(CRPPA):c.614G>A (p.Arg205His)
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp) rs1008210645
NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg) rs397515408
NM_001101426.4(CRPPA):c.640C>A (p.Pro214Thr)
NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys)
NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp) rs387907160
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.713C>T (p.Thr238Ile) rs397515409
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.789+2T>G rs397515397
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter) rs368593151
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.832A>T (p.Lys278Ter) rs387907161
NM_001101426.4(CRPPA):c.835+2T>C
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.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.933+5G>C rs1554305652
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)
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665
NM_001165928.3(DAG1):c.1014C>T (p.Ile338=) rs773685771
NM_001165928.3(DAG1):c.1022C>T (p.Thr341Ile) rs148759919
NM_001165928.3(DAG1):c.1026C>T (p.Pro342=) rs1553652858
NM_001165928.3(DAG1):c.1046C>T (p.Pro349Leu) rs200233956
NM_001165928.3(DAG1):c.1051A>G (p.Thr351Ala) rs376991799
NM_001165928.3(DAG1):c.1100C>T (p.Thr367Met)
NM_001165928.3(DAG1):c.1122C>T (p.Gly374=) rs139993618
NM_001165928.3(DAG1):c.1182C>T (p.Gly394=)
NM_001165928.3(DAG1):c.1186A>G (p.Thr396Ala) rs779846682
NM_001165928.3(DAG1):c.1210A>G (p.Thr404Ala) rs769229834
NM_001165928.3(DAG1):c.1215G>A (p.Met405Ile) rs141238609
NM_001165928.3(DAG1):c.1233G>A (p.Val411=) rs145765079
NM_001165928.3(DAG1):c.1280C>T (p.Pro427Leu) rs770985285
NM_001165928.3(DAG1):c.1306A>G (p.Thr436Ala) rs149838438
NM_001165928.3(DAG1):c.1307C>T (p.Thr436Met) rs143573515
NM_001165928.3(DAG1):c.1308G>A (p.Thr436=) rs143763229
NM_001165928.3(DAG1):c.1360C>T (p.Arg454Trp) rs369872091
NM_001165928.3(DAG1):c.1369C>T (p.Arg457Trp)
NM_001165928.3(DAG1):c.1401C>T (p.Ser467=) rs1222765845
NM_001165928.3(DAG1):c.1487G>T (p.Arg496Leu) rs199519832
NM_001165928.3(DAG1):c.1489C>G (p.Pro497Ala) rs376508721
NM_001165928.3(DAG1):c.148A>G (p.Met50Val) rs758104540
NM_001165928.3(DAG1):c.1492_1494del (p.Glu498del) rs1553653093
NM_001165928.3(DAG1):c.1535C>T (p.Thr512Ile) rs527867946
NM_001165928.3(DAG1):c.1543G>A (p.Glu515Lys)
NM_001165928.3(DAG1):c.1690C>A (p.Leu564Ile) rs199894361
NM_001165928.3(DAG1):c.1701C>T (p.Ser567=) rs142579425
NM_001165928.3(DAG1):c.1705C>T (p.His569Tyr) rs1559579950
NM_001165928.3(DAG1):c.1757C>T (p.Ser586Leu) rs371990100
NM_001165928.3(DAG1):c.1773C>T (p.Phe591=) rs2229010
NM_001165928.3(DAG1):c.1826A>G (p.Lys609Arg) rs200798800
NM_001165928.3(DAG1):c.1829C>T (p.Ala610Val)
NM_001165928.3(DAG1):c.1847C>T (p.Pro616Leu)
NM_001165928.3(DAG1):c.185C>T (p.Pro62Leu) rs375938350
NM_001165928.3(DAG1):c.1883_1887delinsACTTT (p.Ala628_Leu629delinsAspPhe) rs1559580384
NM_001165928.3(DAG1):c.193G>A (p.Val65Ile) rs757379579
NM_001165928.3(DAG1):c.1966G>A (p.Val656Met) rs1313375346
NM_001165928.3(DAG1):c.1977G>A (p.Trp659Ter) rs1553653437
NM_001165928.3(DAG1):c.2001G>T (p.Glu667Asp)
NM_001165928.3(DAG1):c.2006G>T (p.Cys669Phe) rs797045023
NM_001165928.3(DAG1):c.2023G>A (p.Ala675Thr)
NM_001165928.3(DAG1):c.2036G>A (p.Arg679His) rs113904914
NM_001165928.3(DAG1):c.2044G>A (p.Ala682Thr)
NM_001165928.3(DAG1):c.2082C>T (p.Asn694=) rs146453412
NM_001165928.3(DAG1):c.2100T>G (p.Phe700Leu) rs141697036
NM_001165928.3(DAG1):c.2123C>T (p.Thr708Met)
NM_001165928.3(DAG1):c.2124G>A (p.Thr708=)
NM_001165928.3(DAG1):c.212C>A (p.Thr71Lys)
NM_001165928.3(DAG1):c.2141G>A (p.Arg714Gln) rs201488118
NM_001165928.3(DAG1):c.2231G>C (p.Ser744Thr) rs114357468
NM_001165928.3(DAG1):c.2245G>A (p.Val749Ile) rs1559581311
NM_001165928.3(DAG1):c.2271C>T (p.Ala757=) rs78281659
NM_001165928.3(DAG1):c.2303G>T (p.Gly768Val) rs1553653701
NM_001165928.3(DAG1):c.2313C>T (p.Ala771=) rs764289801
NM_001165928.3(DAG1):c.2326C>T (p.Arg776Cys) rs752441031
NM_001165928.3(DAG1):c.2336G>A (p.Arg779Gln)
NM_001165928.3(DAG1):c.2342G>A (p.Gly781Asp)
NM_001165928.3(DAG1):c.235C>T (p.Arg79Ter)
NM_001165928.3(DAG1):c.2366C>T (p.Ala789Val) rs1426926145
NM_001165928.3(DAG1):c.23C>T (p.Ser8Leu)
NM_001165928.3(DAG1):c.2431C>T (p.Pro811Ser) rs368597067
NM_001165928.3(DAG1):c.244A>G (p.Ile82Val) rs141706514
NM_001165928.3(DAG1):c.2479C>T (p.Pro827Ser)
NM_001165928.3(DAG1):c.24G>A (p.Ser8=) rs1229832209
NM_001165928.3(DAG1):c.2511C>T (p.Pro837=) rs778665335
NM_001165928.3(DAG1):c.2512G>A (p.Glu838Lys)
NM_001165928.3(DAG1):c.2520T>C (p.Thr840=) rs149564053
NM_001165928.3(DAG1):c.2536A>C (p.Thr846Pro)
NM_001165928.3(DAG1):c.2552C>T (p.Thr851Met)
NM_001165928.3(DAG1):c.2561G>A (p.Arg854Gln) rs199933395
NM_001165928.3(DAG1):c.2576A>G (p.Asn859Ser) rs754079735
NM_001165928.3(DAG1):c.2588A>G (p.Tyr863Cys) rs1436774690
NM_001165928.3(DAG1):c.258G>C (p.Leu86Phe) rs145403829
NM_001165928.3(DAG1):c.259A>G (p.Ile87Val) rs116717961
NM_001165928.3(DAG1):c.2635C>T (p.Arg879Cys)
NM_001165928.3(DAG1):c.268A>G (p.Ser90Gly) rs140454570
NM_001165928.3(DAG1):c.278T>C (p.Ile93Thr) rs149218670
NM_001165928.3(DAG1):c.286-10del rs747305463
NM_001165928.3(DAG1):c.331G>A (p.Asp111Asn) rs117209107
NM_001165928.3(DAG1):c.384G>A (p.Val128=) rs143829263
NM_001165928.3(DAG1):c.384G>T (p.Val128=) rs143829263
NM_001165928.3(DAG1):c.402C>T (p.Ser134=) rs367603470
NM_001165928.3(DAG1):c.41G>C (p.Trp14Ser) rs1553648360
NM_001165928.3(DAG1):c.424G>A (p.Gly142Arg) rs749962207
NM_001165928.3(DAG1):c.440del (p.Gln147fs) rs1553652503
NM_001165928.3(DAG1):c.454_467del (p.Phe152fs) rs1553652513
NM_001165928.3(DAG1):c.496T>G (p.Ser166Ala) rs1421891404
NM_001165928.3(DAG1):c.576G>A (p.Thr192=)
NM_001165928.3(DAG1):c.57C>T (p.Leu19=) rs768105958
NM_001165928.3(DAG1):c.591C>T (p.Ala197=) rs768487898
NM_001165928.3(DAG1):c.599C>G (p.Thr200Ser) rs41290704
NM_001165928.3(DAG1):c.613A>G (p.Lys205Glu) rs145871499
NM_001165928.3(DAG1):c.623T>C (p.Ile208Thr) rs772976299
NM_001165928.3(DAG1):c.634C>A (p.His212Asn) rs146574353
NM_001165928.3(DAG1):c.712A>G (p.Met238Val)
NM_001165928.3(DAG1):c.735G>A (p.Pro245=) rs748164001
NM_001165928.3(DAG1):c.743del (p.Ala248fs) rs869320680
NM_001165928.3(DAG1):c.751del (p.Val251fs)
NM_001165928.3(DAG1):c.829G>A (p.Val277Ile) rs375892170
NM_001165928.3(DAG1):c.854C>T (p.Ala285Val)
NM_001165928.3(DAG1):c.902A>G (p.Asn301Ser)
NM_001165928.3(DAG1):c.928G>A (p.Val310Ile)
NM_001165928.3(DAG1):c.932G>A (p.Arg311Gln) rs752813826
NM_001165928.3(DAG1):c.965C>T (p.Thr322Ile) rs376602004
NM_001243766.1(POMGNT1):c.1962_1964TCC[1] (p.Pro656del) rs780919404
NM_001243766.1(POMGNT1):c.1985+2_1985+5del rs1553162554
NM_001243766.1(POMGNT1):c.2031_2057del (p.Glu678_Leu686del) rs754791169
NM_001243766.1(POMGNT1):c.2100_2101dup (p.Ala701fs) rs940315351
NM_001243766.1(POMGNT1):c.2195G>A (p.Trp732Ter) rs866924336
NM_001243766.1(POMGNT1):c.2196G>A (p.Trp732Ter) rs764840485
NM_001243766.1(POMGNT1):c.2209del (p.Leu737fs) rs1553162438
NM_001243766.1(POMGNT1):c.2227C>T (p.Gln743Ter) rs769094628
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_002291.3(LAMB1):c.1442G>T (p.Cys481Phe) rs879255267
NM_002291.3(LAMB1):c.2109+1G>T rs387907344
NM_002291.3(LAMB1):c.2684G>A (p.Cys895Tyr) rs1554406824
NM_002291.3(LAMB1):c.2931del (p.Gln977fs) rs879255266
NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049_Gln1053delinsProValLeuValSerSerTer) rs387907343
NM_002291.3(LAMB1):c.4183G>A (p.Glu1395Lys)
NM_002291.3(LAMB1):c.4393G>A (p.Val1465Ile) rs1554402678
NM_002291.3(LAMB1):c.4562T>G (p.Ile1521Ser) rs199646967
NM_002291.3(LAMB1):c.5347A>G (p.Ser1783Gly)
NM_004737.6(LARGE1):c.*100C>A rs567278765
NM_004737.6(LARGE1):c.*1201A>G rs11544101
NM_004737.6(LARGE1):c.*1235A>G rs1801820
NM_004737.6(LARGE1):c.*154C>A rs73399512
NM_004737.6(LARGE1):c.*207G>A rs16992036
NM_004737.6(LARGE1):c.*455C>T rs886057460
NM_004737.6(LARGE1):c.*479A>T rs886057459
NM_004737.6(LARGE1):c.*499G>A rs886057458
NM_004737.6(LARGE1):c.*501T>C rs886057457
NM_004737.6(LARGE1):c.*580C>T rs776235903
NM_004737.6(LARGE1):c.*740A>G rs116335813
NM_004737.6(LARGE1):c.*770A>T rs886057456
NM_004737.6(LARGE1):c.*796C>T rs144150303
NM_004737.6(LARGE1):c.*798G>A rs778063005
NM_004737.6(LARGE1):c.*823_*824dup rs140177888
NM_004737.6(LARGE1):c.*833A>G rs748248240
NM_004737.6(LARGE1):c.*849C>T rs149508241
NM_004737.6(LARGE1):c.*856G>A rs77663505
NM_004737.6(LARGE1):c.*921C>G rs16992034
NM_004737.6(LARGE1):c.*998A>G rs886057455
NM_004737.6(LARGE1):c.-121G>C rs114574565
NM_004737.6(LARGE1):c.-145-9A>C rs759992064
NM_004737.6(LARGE1):c.-212G>C rs143403352
NM_004737.6(LARGE1):c.-240C>T rs3210587
NM_004737.6(LARGE1):c.-305C>T rs886057462
NM_004737.6(LARGE1):c.-310T>G rs886057463
NM_004737.6(LARGE1):c.-31G>A rs117199378
NM_004737.6(LARGE1):c.-334G>A rs185068235
NM_004737.6(LARGE1):c.-340T>G rs886057464
NM_004737.6(LARGE1):c.-34G>A rs759430272
NM_004737.6(LARGE1):c.-350A>G rs886057465
NM_004737.6(LARGE1):c.-355G>C rs886057466
NM_004737.6(LARGE1):c.-406C>A rs886057467
NM_004737.6(LARGE1):c.-422C>G rs886057468
NM_004737.6(LARGE1):c.-460C>G rs114106875
NM_004737.6(LARGE1):c.-462A>T rs535216289
NM_004737.6(LARGE1):c.-518G>A rs532736408
NM_004737.6(LARGE1):c.-543C>T rs886057469
NM_004737.6(LARGE1):c.-544G>T rs537756491
NM_004737.6(LARGE1):c.-63C>T rs16992986
NM_004737.6(LARGE1):c.1008T>C (p.Asp336=) rs115076367
NM_004737.6(LARGE1):c.1033_1034dup (p.Asn345fs) rs1569112355
NM_004737.6(LARGE1):c.1092C>T (p.Thr364=) rs144216539
NM_004737.6(LARGE1):c.1287C>T (p.Asn429=) rs561439887
NM_004737.6(LARGE1):c.1320C>T (p.Asp440=) rs772615481
NM_004737.6(LARGE1):c.1413C>A (p.Ser471Arg)
NM_004737.6(LARGE1):c.1420G>A (p.Val474Ile) rs150861748
NM_004737.6(LARGE1):c.1483T>C (p.Trp495Arg) rs267607209
NM_004737.6(LARGE1):c.1548C>T (p.Tyr516=) rs34292743
NM_004737.6(LARGE1):c.163A>G (p.Thr55Ala) rs34642406
NM_004737.6(LARGE1):c.165G>C (p.Thr55=) rs63446460
NM_004737.6(LARGE1):c.1788G>A (p.Ala596=) rs74550830
NM_004737.6(LARGE1):c.178C>T (p.Arg60Trp) rs142135345
NM_004737.6(LARGE1):c.1827A>G (p.Ser609=) rs11913417
NM_004737.6(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520
NM_004737.6(LARGE1):c.1962G>A (p.Glu654=) rs141089495
NM_004737.6(LARGE1):c.1994G>A (p.Arg665His) rs1046166
NM_004737.6(LARGE1):c.2073+11C>T rs774384587
NM_004737.6(LARGE1):c.2100C>T (p.Asn700=) rs17722172
NM_004737.6(LARGE1):c.211G>A (p.Glu71Lys) rs116164106
NM_004737.6(LARGE1):c.2208G>A (p.Gln736=) rs759427879
NM_004737.6(LARGE1):c.251G>C (p.Ser84Thr) rs398124184
NM_004737.6(LARGE1):c.26G>A (p.Arg9Gln) rs763697782
NM_004737.6(LARGE1):c.283C>T (p.Arg95Ter) rs761071115
NM_004737.6(LARGE1):c.309C>T (p.Ser103=) rs59349720
NM_004737.6(LARGE1):c.435C>T (p.Ala145=) rs86487
NM_004737.6(LARGE1):c.506A>G (p.His169Arg) rs886057461
NM_004737.6(LARGE1):c.552G>A (p.Thr184=) rs8142483
NM_004737.6(LARGE1):c.576C>T (p.Pro192=) rs36002910
NM_004737.6(LARGE1):c.857G>A (p.Arg286His) rs200035534
NM_004737.6(LARGE1):c.992C>T (p.Ser331Phe) rs267607210
NM_006731.2(FKTN):c.*1017A>G rs886063324
NM_006731.2(FKTN):c.*1018T>A rs16924759
NM_006731.2(FKTN):c.*1133A>G rs2768282
NM_006731.2(FKTN):c.*1249C>T rs79589823
NM_006731.2(FKTN):c.*1276C>T rs886063325
NM_006731.2(FKTN):c.*1511A>G rs886063326
NM_006731.2(FKTN):c.*1681G>A rs886063327
NM_006731.2(FKTN):c.*1845G>T rs886063328
NM_006731.2(FKTN):c.*2265T>C rs76003803
NM_006731.2(FKTN):c.*2433G>A rs886063329
NM_006731.2(FKTN):c.*2505A>G rs367988702
NM_006731.2(FKTN):c.*2508G>T rs886063330
NM_006731.2(FKTN):c.*2516G>T rs886063331
NM_006731.2(FKTN):c.*2904G>A rs138806979
NM_006731.2(FKTN):c.*2910C>A rs148937517
NM_006731.2(FKTN):c.*2984C>T rs886063332
NM_006731.2(FKTN):c.*3046T>C rs886063333
NM_006731.2(FKTN):c.*3156A>T rs886063334
NM_006731.2(FKTN):c.*324G>C rs536822992
NM_006731.2(FKTN):c.*3377A>G rs148172557
NM_006731.2(FKTN):c.*3432dup rs879020291
NM_006731.2(FKTN):c.*3547C>T rs886063336
NM_006731.2(FKTN):c.*3861T>C rs185745657
NM_006731.2(FKTN):c.*3918A>G rs17316607
NM_006731.2(FKTN):c.*4238del rs776272545
NM_006731.2(FKTN):c.*42del rs749100291
NM_006731.2(FKTN):c.*436C>T rs886063322
NM_006731.2(FKTN):c.*4599G>A rs886063338
NM_006731.2(FKTN):c.*4825T>C rs115155934
NM_006731.2(FKTN):c.*4859A>G rs1554768242
NM_006731.2(FKTN):c.*4859A>T rs1554768242
NM_006731.2(FKTN):c.*4940C>G rs886063339
NM_006731.2(FKTN):c.*5003T>G rs886063340
NM_006731.2(FKTN):c.*5041G>A rs1854124
NM_006731.2(FKTN):c.*5062G>A rs1854125
NM_006731.2(FKTN):c.*5161C>T rs886063341
NM_006731.2(FKTN):c.*5260G>T rs2010861
NM_006731.2(FKTN):c.*5303dup rs879263714
NM_006731.2(FKTN):c.*5356C>T rs553575648
NM_006731.2(FKTN):c.*5517T>C rs114655654
NM_006731.2(FKTN):c.*5578G>A rs41277801
NM_006731.2(FKTN):c.*5618T>A rs1048215
NM_006731.2(FKTN):c.*5817A>C rs886063343
NM_006731.2(FKTN):c.*786T>G rs10978177
NM_006731.2(FKTN):c.*818C>T rs79162268
NM_006731.2(FKTN):c.*954T>A rs886063323
NM_006731.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
NM_006731.2(FKTN):c.-88-1200del rs727502845
NM_006731.2(FKTN):c.-88-1206T>C rs151250905
NM_006731.2(FKTN):c.-88-1246A>G rs886063318
NM_006731.2(FKTN):c.-88-1268G>C rs4742953
NM_006731.2(FKTN):c.-89+1G>C rs574535599
NM_006731.2(FKTN):c.-89+1G>T rs574535599
NM_006731.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_006731.2(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_006731.2(FKTN):c.102A>C (p.Thr34=) rs138740640
NM_006731.2(FKTN):c.1046T>C (p.Val349Ala) rs539089647
NM_006731.2(FKTN):c.1056C>G (p.Ser352Arg) rs149085844
NM_006731.2(FKTN):c.106-10G>A rs148384394
NM_006731.2(FKTN):c.106-2A>G rs1554748292
NM_006731.2(FKTN):c.1086T>A (p.Asp362Glu)
NM_006731.2(FKTN):c.1099del (p.Val367fs) rs1554761310
NM_006731.2(FKTN):c.109G>T (p.Gly37Ter) rs773884973
NM_006731.2(FKTN):c.10A>C (p.Ile4Leu) rs757900916
NM_006731.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_006731.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_006731.2(FKTN):c.1129A>G (p.Met377Val) rs1200757732
NM_006731.2(FKTN):c.1129_1130del (p.Met377fs) rs1554761402
NM_006731.2(FKTN):c.1135A>G (p.Asn379Asp)
NM_006731.2(FKTN):c.1153A>T (p.Lys385Ter)
NM_006731.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262
NM_006731.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_006731.2(FKTN):c.1172+1G>A rs1554761462
NM_006731.2(FKTN):c.1173-1G>A rs557699482
NM_006731.2(FKTN):c.1173-1G>C rs557699482
NM_006731.2(FKTN):c.1173-2A>G rs1554766808
NM_006731.2(FKTN):c.1173-8T>C rs767093535
NM_006731.2(FKTN):c.1174T>C (p.Tyr392His)
NM_006731.2(FKTN):c.1178T>C (p.Leu393Pro) rs374962879
NM_006731.2(FKTN):c.1188G>A (p.Lys396=) rs886063320
NM_006731.2(FKTN):c.1201del (p.Trp401fs) rs1554766841
NM_006731.2(FKTN):c.1205C>T (p.Thr402Ile)
NM_006731.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_006731.2(FKTN):c.1228C>A (p.His410Asn) rs146272618
NM_006731.2(FKTN):c.1236C>A (p.Pro412=) rs1554766880
NM_006731.2(FKTN):c.1249G>T (p.Glu417Ter) rs765934383
NM_006731.2(FKTN):c.124A>G (p.Lys42Glu)
NM_006731.2(FKTN):c.1250A>T (p.Glu417Val) rs543684877
NM_006731.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)
NM_006731.2(FKTN):c.1264_1286del (p.Asn422fs) rs1554766898
NM_006731.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445
NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_006731.2(FKTN):c.1298C>T (p.Thr433Met)
NM_006731.2(FKTN):c.12C>G (p.Ile4Met)
NM_006731.2(FKTN):c.12C>T (p.Ile4=) rs1389073650
NM_006731.2(FKTN):c.1315_1316TC[3] (p.Pro440fs) rs886042778
NM_006731.2(FKTN):c.1319C>T (p.Pro440Leu) rs1564357396
NM_006731.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_006731.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618
NM_006731.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_006731.2(FKTN):c.1371_1381dup (p.Tyr461fs) rs727502847
NM_006731.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990
NM_006731.2(FKTN):c.13A>G (p.Asn5Asp)
NM_006731.2(FKTN):c.140G>A (p.Arg47Gln)
NM_006731.2(FKTN):c.14A>G (p.Asn5Ser)
NM_006731.2(FKTN):c.166-4A>G rs193922689
NM_006731.2(FKTN):c.166-6A>G rs41277795
NM_006731.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_006731.2(FKTN):c.167G>A (p.Arg56His) rs146951171
NM_006731.2(FKTN):c.170C>T (p.Ala57Val) rs1554751104
NM_006731.2(FKTN):c.175_180del (p.Lys59_Lys60del) rs1554751112
NM_006731.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle) rs1554751136
NM_006731.2(FKTN):c.220C>A (p.Leu74Ile) rs1060501407
NM_006731.2(FKTN):c.22G>A (p.Val8Met)
NM_006731.2(FKTN):c.22G>T (p.Val8Leu) rs368981218
NM_006731.2(FKTN):c.258C>T (p.Asn86=) rs1554751233
NM_006731.2(FKTN):c.277A>G (p.Thr93Ala) rs886063319
NM_006731.2(FKTN):c.285T>C (p.His95=) rs148046151
NM_006731.2(FKTN):c.292A>G (p.Thr98Ala)
NM_006731.2(FKTN):c.293C>G (p.Thr98Ser) rs376452959
NM_006731.2(FKTN):c.293C>T (p.Thr98Ile) rs376452959
NM_006731.2(FKTN):c.29T>C (p.Leu10Ser)
NM_006731.2(FKTN):c.300A>G (p.Gln100=)
NM_006731.2(FKTN):c.30G>A (p.Leu10=) rs202047149
NM_006731.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_006731.2(FKTN):c.333T>C (p.Thr111=) rs141729611
NM_006731.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_006731.2(FKTN):c.34C>G (p.Leu12Val) rs939985733
NM_006731.2(FKTN):c.355C>T (p.Leu119=) rs1554751390
NM_006731.2(FKTN):c.369+4A>G
NM_006731.2(FKTN):c.369+6T>G rs1554751423
NM_006731.2(FKTN):c.370-2A>G rs1554752805
NM_006731.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_006731.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_006731.2(FKTN):c.382C>T (p.Arg128Trp) rs767026996
NM_006731.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441
NM_006731.2(FKTN):c.397A>G (p.Met133Val) rs569778463
NM_006731.2(FKTN):c.400G>A (p.Gly134Arg) rs1554752862
NM_006731.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs) rs1564290459
NM_006731.2(FKTN):c.41C>T (p.Thr14Met) rs149033995
NM_006731.2(FKTN):c.429del (p.Asp144fs) rs1057516258
NM_006731.2(FKTN):c.42G>A (p.Thr14=) rs78794935
NM_006731.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512
NM_006731.2(FKTN):c.432del (p.Arg146fs)
NM_006731.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939
NM_006731.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690
NM_006731.2(FKTN):c.482A>G (p.His161Arg) rs727502848
NM_006731.2(FKTN):c.489C>G (p.Ile163Met) rs980208971
NM_006731.2(FKTN):c.511A>T (p.Ile171Phe)
NM_006731.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_006731.2(FKTN):c.545A>G (p.Asn182Ser)
NM_006731.2(FKTN):c.556C>T (p.His186Tyr)
NM_006731.2(FKTN):c.557A>G (p.His186Arg) rs1448279636
NM_006731.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499
NM_006731.2(FKTN):c.569G>A (p.Arg190Lys)
NM_006731.2(FKTN):c.584T>C (p.Ile195Thr)
NM_006731.2(FKTN):c.586G>T (p.Asp196Tyr) rs756748012
NM_006731.2(FKTN):c.58T>G (p.Phe20Val) rs1554731003
NM_006731.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506
NM_006731.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_006731.2(FKTN):c.623G>A (p.Gly208Asp) rs778048703
NM_006731.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_006731.2(FKTN):c.643G>C (p.Asp215His) rs745975808
NM_006731.2(FKTN):c.648-1243G>T rs1554754182
NM_006731.2(FKTN):c.658_661del (p.Gln220fs) rs1057517160
NM_006731.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846
NM_006731.2(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_006731.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195
NM_006731.2(FKTN):c.719_721AAG[1] (p.Glu241del) rs1437925297
NM_006731.2(FKTN):c.75G>A (p.Leu25=) rs188900946
NM_006731.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_006731.2(FKTN):c.770del (p.Ala257fs) rs1057516966
NM_006731.2(FKTN):c.780+1G>A rs370819786
NM_006731.2(FKTN):c.780+2T>C
NM_006731.2(FKTN):c.780G>A (p.Gln260=) rs1459814015
NM_006731.2(FKTN):c.781-9T>C rs370564232
NM_006731.2(FKTN):c.787C>G (p.Leu263Val)
NM_006731.2(FKTN):c.7A>G (p.Arg3Gly) rs1037406947
NM_006731.2(FKTN):c.802G>T (p.Val268Leu) rs878854165
NM_006731.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116
NM_006731.2(FKTN):c.822G>T (p.Arg274=) rs997235832
NM_006731.2(FKTN):c.83A>G (p.Tyr28Cys) rs374203636
NM_006731.2(FKTN):c.854C>T (p.Ala285Val) rs137951613
NM_006731.2(FKTN):c.868A>T (p.Lys290Ter)
NM_006731.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516
NM_006731.2(FKTN):c.877G>C (p.Val293Leu)
NM_006731.2(FKTN):c.885C>G (p.Phe295Leu) rs1564319328
NM_006731.2(FKTN):c.905G>A (p.Cys302Tyr) rs1554757939
NM_006731.2(FKTN):c.919C>G (p.Arg307Gly) rs267606814
NM_006731.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814
NM_006731.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304
NM_006731.2(FKTN):c.92A>G (p.Tyr31Cys)
NM_006731.2(FKTN):c.938C>T (p.Pro313Leu)
NM_006731.2(FKTN):c.941A>G (p.Tyr314Cys) rs1451453111
NM_006731.2(FKTN):c.952G>A (p.Val318Ile) rs141120187
NM_006876.2(B4GAT1):[c.1168A>G;c.1217C>T]
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.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)
NM_006876.3(B4GAT1):c.37C>T (p.Gln13Ter)
NM_006876.3(B4GAT1):c.415G>T (p.Ala139Ser) rs1565209689
NM_006876.3(B4GAT1):c.447G>C (p.Met149Ile)
NM_006876.3(B4GAT1):c.460G>T (p.Ala154Ser) rs1555016589
NM_006876.3(B4GAT1):c.485G>A (p.Arg162His) rs1565209634
NM_006876.3(B4GAT1):c.511C>A (p.Arg171=)
NM_006876.3(B4GAT1):c.514G>C (p.Glu172Gln)
NM_006876.3(B4GAT1):c.521G>T (p.Gly174Val)
NM_006876.3(B4GAT1):c.582G>C (p.Gln194His) rs377415983
NM_006876.3(B4GAT1):c.665A>G (p.Tyr222Cys) rs113570160
NM_006876.3(B4GAT1):c.688A>G (p.Met230Val)
NM_006876.3(B4GAT1):c.69G>C (p.Ala23=) rs146812867
NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser)
NM_006876.3(B4GAT1):c.780C>T (p.Phe260=) rs1319732212
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs) rs730882237
NM_006876.3(B4GAT1):c.828G>T (p.Val276=) rs142956522
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_007171.3(POMT1):c.1044C>A (p.Tyr348Ter)
NM_007171.3(POMT1):c.1052+5G>A rs370096853
NM_007171.3(POMT1):c.1052+9A>G rs202095070
NM_007171.3(POMT1):c.1053-2A>C rs1453773610
NM_007171.3(POMT1):c.1056T>A (p.Tyr352Ter) rs765230689
NM_007171.3(POMT1):c.1113C>T (p.Asp371=) rs3739494
NM_007171.3(POMT1):c.111G>C (p.Pro37=) rs761641734
NM_007171.3(POMT1):c.1134A>G (p.Val378=) rs1280401262
NM_007171.3(POMT1):c.1150C>A (p.His384Asn) rs141229412
NM_007171.3(POMT1):c.1153C>T (p.Gln385Ter) rs200056620
NM_007171.3(POMT1):c.1182T>C (p.Pro394=) rs146945848
NM_007171.3(POMT1):c.1183G>C (p.Val395Leu) rs200508760
NM_007171.3(POMT1):c.1191C>T (p.His397=) rs35242383
NM_007171.3(POMT1):c.1192G>A (p.Gly398Arg) rs146869947
NM_007171.3(POMT1):c.1215C>T (p.His405=) rs202121299
NM_007171.3(POMT1):c.1216G>A (p.Gly406Ser) rs146234177
NM_007171.3(POMT1):c.122+5G>A rs376753193
NM_007171.3(POMT1):c.1228C>T (p.Arg410Cys) rs748087053
NM_007171.3(POMT1):c.1229G>A (p.Arg410His)
NM_007171.3(POMT1):c.1259C>T (p.Pro420Leu) rs776388419
NM_007171.3(POMT1):c.1260_1262del (p.Leu421del) rs587777818
NM_007171.3(POMT1):c.1261_1262del (p.Leu421fs) rs1564364615
NM_007171.3(POMT1):c.1295T>C (p.Ile432Thr) rs1554778053
NM_007171.3(POMT1):c.1299C>A (p.Asp433Glu) rs11243406
NM_007171.3(POMT1):c.1319C>T (p.Ala440Val) rs369651101
NM_007171.3(POMT1):c.1338+2T>C rs1564365317
NM_007171.3(POMT1):c.1341A>G (p.Glu447=) rs62620174
NM_007171.3(POMT1):c.1396C>T (p.Arg466Cys) rs752384050
NM_007171.3(POMT1):c.1415C>A (p.Thr472Asn)
NM_007171.3(POMT1):c.1427T>G (p.Leu476Ter) rs1554780670
NM_007171.3(POMT1):c.1457G>C (p.Trp486Ser) rs746849558
NM_007171.3(POMT1):c.1482C>T (p.Val494=) rs139687326
NM_007171.3(POMT1):c.1514G>A (p.Ser505Asn) rs750937093
NM_007171.3(POMT1):c.151A>T (p.Ile51Phe) rs886044651
NM_007171.3(POMT1):c.1545C>T (p.Tyr515=) rs62636653
NM_007171.3(POMT1):c.1546G>A (p.Gly516Ser) rs200204923
NM_007171.3(POMT1):c.154T>C (p.Ser52Pro) rs1554771665
NM_007171.3(POMT1):c.1565G>A (p.Arg522Lys) rs117985576
NM_007171.3(POMT1):c.1606G>A (p.Val536Ile)
NM_007171.3(POMT1):c.1611C>G (p.Ser537Arg) rs150367385
NM_007171.3(POMT1):c.1621A>G (p.Ser541Gly) rs1564381465
NM_007171.3(POMT1):c.1664C>T (p.Ala555Val) rs199682341
NM_007171.3(POMT1):c.1724T>C (p.Leu575Pro)
NM_007171.3(POMT1):c.1758G>A (p.Arg586=) rs34954751
NM_007171.3(POMT1):c.1764C>T (p.Ser588=) rs150814269
NM_007171.3(POMT1):c.1771A>C (p.Ile591Leu)
NM_007171.3(POMT1):c.1793T>C (p.Val598Ala) rs144338642
NM_007171.3(POMT1):c.1801G>C (p.Val601Leu)
NM_007171.3(POMT1):c.1829A>G (p.Tyr610Cys) rs772131719
NM_007171.3(POMT1):c.1859G>A (p.Arg620Gln) rs202140413
NM_007171.3(POMT1):c.1861C>T (p.Arg621Trp) rs150899645
NM_007171.3(POMT1):c.1862G>A (p.Arg621Gln) rs367709136
NM_007171.3(POMT1):c.1864C>T (p.Arg622Ter) rs794727208
NM_007171.3(POMT1):c.1889A>G (p.Gln630Arg) rs145021255
NM_007171.3(POMT1):c.1892-7_1892-6delinsAA rs1064793740
NM_007171.3(POMT1):c.1903_1918dup (p.Gly640fs)
NM_007171.3(POMT1):c.1922C>T (p.Ala641Val) rs12115566
NM_007171.3(POMT1):c.1933G>A (p.Gly645Ser) rs756303645
NM_007171.3(POMT1):c.1958C>T (p.Pro653Leu) rs149682171
NM_007171.3(POMT1):c.197C>T (p.Pro66Leu) rs757903559
NM_007171.3(POMT1):c.1998C>T (p.Tyr666=) rs146512619
NM_007171.3(POMT1):c.2005G>A (p.Ala669Thr) rs119462987
NM_007171.3(POMT1):c.2069+4C>T rs766635497
NM_007171.3(POMT1):c.2093T>C (p.Phe698Ser) rs1201402718
NM_007171.3(POMT1):c.2097C>T (p.Ser699=) rs778418119
NM_007171.3(POMT1):c.2110dup (p.Ala704fs) rs587777817
NM_007171.3(POMT1):c.2125G>A (p.Ala709Thr) rs535544133
NM_007171.3(POMT1):c.2126C>T (p.Ala709Val) rs138171526
NM_007171.3(POMT1):c.2133C>A (p.His711Gln) rs141895982
NM_007171.3(POMT1):c.2133C>T (p.His711=) rs141895982
NM_007171.3(POMT1):c.2149C>T (p.Arg717Cys)
NM_007171.3(POMT1):c.2150G>A (p.Arg717His)
NM_007171.3(POMT1):c.2156T>A (p.Leu719His)
NM_007171.3(POMT1):c.2163C>A (p.Tyr721Ter) rs138902646
NM_007171.3(POMT1):c.2167G>T (p.Asp723Tyr)
NM_007171.3(POMT1):c.2167dup (p.Asp723fs) rs398124245
NM_007171.3(POMT1):c.2177_2178TC[1] (p.Ser727fs) rs587777819
NM_007171.3(POMT1):c.2181G>A (p.Ser727=) rs76092524
NM_007171.3(POMT1):c.2189A>T (p.Glu730Val)
NM_007171.3(POMT1):c.2203C>T (p.Arg735Cys) rs147266709
NM_007171.3(POMT1):c.2204G>A (p.Arg735His) rs938573554
NM_007171.3(POMT1):c.2210_2213dup (p.Asp738fs)
NM_007171.3(POMT1):c.2233C>T (p.Arg745Ter) rs202202445
NM_007171.3(POMT1):c.2244G>A (p.Ter748=) rs147143094
NM_007171.3(POMT1):c.226G>A (p.Gly76Arg) rs28941782
NM_007171.3(POMT1):c.280+7_280+8del rs561658895
NM_007171.3(POMT1):c.285C>T (p.Tyr95=) rs1554772428
NM_007171.3(POMT1):c.30G>A (p.Val10=) rs201533471
NM_007171.3(POMT1):c.328C>T (p.Leu110Phe) rs1338443127
NM_007171.3(POMT1):c.332C>T (p.Ala111Val) rs371531181
NM_007171.3(POMT1):c.367G>T (p.Val123Leu)
NM_007171.3(POMT1):c.389A>C (p.His130Pro) rs752880907
NM_007171.3(POMT1):c.401T>C (p.Met134Thr)
NM_007171.3(POMT1):c.418_420del (p.Met140del) rs587777820
NM_007171.3(POMT1):c.424A>T (p.Ile142Phe) rs141833028
NM_007171.3(POMT1):c.426C>T (p.Ile142=) rs771390000
NM_007171.3(POMT1):c.42C>T (p.Asp14=) rs150937126
NM_007171.3(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_007171.3(POMT1):c.488A>G (p.Asn163Ser) rs182295674
NM_007171.3(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_007171.3(POMT1):c.568C>T (p.Leu190=) rs752931210
NM_007171.3(POMT1):c.586G>A (p.Ala196Thr) rs199498900
NM_007171.3(POMT1):c.605+1G>C rs766648827
NM_007171.3(POMT1):c.606del (p.Ile203fs)
NM_007171.3(POMT1):c.629C>T (p.Thr210Met) rs377037072
NM_007171.3(POMT1):c.698A>G (p.Asn233Ser) rs139774354
NM_007171.3(POMT1):c.752G>A (p.Arg251Gln) rs2296949
NM_007171.3(POMT1):c.761del (p.Gln254fs) rs1356791510
NM_007171.3(POMT1):c.78G>A (p.Gly26=) rs149554732
NM_007171.3(POMT1):c.790G>A (p.Ala264Thr) rs779771679
NM_007171.3(POMT1):c.818C>T (p.Pro273Leu) rs139660235
NM_007171.3(POMT1):c.823G>A (p.Val275Ile) rs772590277
NM_007171.3(POMT1):c.855G>C (p.Leu285Phe) rs201073763
NM_007171.3(POMT1):c.869G>A (p.Arg290His) rs369644530
NM_007171.3(POMT1):c.907C>T (p.Gln303Ter) rs119462981
NM_007171.3(POMT1):c.912C>T (p.Ala304=) rs886043307
NM_007171.3(POMT1):c.913A>C (p.Ser305Arg) rs747506380
NM_007171.3(POMT1):c.934C>T (p.Arg312Trp) rs886042627
NM_007171.3(POMT1):c.942C>T (p.Thr314=) rs10901065
NM_007171.3(POMT1):c.957G>A (p.Leu319=) rs76109289
NM_007171.3(POMT1):c.979G>A (p.Val327Ile) rs4740164
NM_007171.3(POMT1):c.993C>T (p.Asn331=) rs753694905
NM_007171.3(POMT1):c.994G>A (p.Val332Ile) rs190112934
NM_013334.3(GMPPB):c.1069G>A (p.Val357Ile) rs199922550
NM_013334.3(GMPPB):c.1098C>T (p.Asn366=) rs147074020
NM_013334.3(GMPPB):c.1129G>A (p.Gly377Ser) rs184127567
NM_013334.3(GMPPB):c.210+9_210+10del rs776779111
NM_013334.3(GMPPB):c.220C>T (p.Arg74Ter) rs397509423
NM_013334.3(GMPPB):c.271_283del (p.Ala91fs)
NM_013334.3(GMPPB):c.287_307del (p.Leu96_Asp102del) rs1559697587
NM_013334.3(GMPPB):c.309T>C (p.Pro103=) rs147516683
NM_013334.3(GMPPB):c.330C>T (p.Asp110=) rs11547261
NM_013334.3(GMPPB):c.365_366dup (p.Phe123fs) rs1553691975
NM_013334.3(GMPPB):c.376C>G (p.His126Asp) rs34345884
NM_013334.3(GMPPB):c.456_457CA[1] (p.Thr153fs) rs1553691918
NM_013334.3(GMPPB):c.458C>T (p.Thr153Ile)
NM_013334.3(GMPPB):c.551G>A (p.Arg184Gln) rs1466685
NM_013334.3(GMPPB):c.553C>T (p.Arg185Cys) rs397509425
NM_013334.3(GMPPB):c.607_609del (p.Lys203del) rs1553691853
NM_013334.3(GMPPB):c.79G>C (p.Asp27His) rs142336618
NM_013334.3(GMPPB):c.860G>A (p.Arg287Gln) rs202160208
NM_013334.3(GMPPB):c.931C>T (p.Arg311Cys) rs371188899
NM_013334.3(GMPPB):c.95C>T (p.Pro32Leu) rs397509426
NM_013334.3(GMPPB):c.960G>A (p.Leu320=) rs55816606
NM_013382.5(POMT2):c.1006+1G>A rs533916138
NM_013382.5(POMT2):c.1006+4_1006+7del
NM_013382.5(POMT2):c.1012G>A (p.Ala338Thr) rs771636400
NM_013382.5(POMT2):c.1017C>T (p.Tyr339=) rs1026361359
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.1045C>T (p.Arg349Trp) rs141339355
NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser) rs267606970
NM_013382.5(POMT2):c.1094G>A (p.Gly365Asp)
NM_013382.5(POMT2):c.1117G>T (p.Val373Phe) rs267606965
NM_013382.5(POMT2):c.1124C>T (p.Thr375Ile)
NM_013382.5(POMT2):c.1141T>C (p.Tyr381His) rs369489033
NM_013382.5(POMT2):c.1142A>G (p.Tyr381Cys)
NM_013382.5(POMT2):c.1186C>T (p.Pro396Ser) rs764723711
NM_013382.5(POMT2):c.1223A>G (p.His408Arg)
NM_013382.5(POMT2):c.1238G>C (p.Arg413Pro) rs190285831
NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg) rs147268052
NM_013382.5(POMT2):c.1261C>T rs727502855
NM_013382.5(POMT2):c.1261del (p.Arg421fs) rs587777815
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)
NM_013382.5(POMT2):c.1317C>T (p.Val439=) rs898725472
NM_013382.5(POMT2):c.133C>T (p.Pro45Ser)
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)
NM_013382.5(POMT2):c.1445G>T (p.Gly482Val) rs267606968
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.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.1604A>T (p.Gln535Leu)
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.1645A>G (p.Met549Val) rs1555352401
NM_013382.5(POMT2):c.1651C>T (p.Arg551Trp) rs751153662
NM_013382.5(POMT2):c.1653+4T>G
NM_013382.5(POMT2):c.1654-8T>G rs780532724
NM_013382.5(POMT2):c.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.1824C>T (p.Tyr608=) rs759220971
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.1912C>T (p.Arg638Ter) rs119463989
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.2087C>T (p.Pro696Leu) rs1449000965
NM_013382.5(POMT2):c.2111C>T (p.Ala704Val)
NM_013382.5(POMT2):c.2148-6T>A rs1242617887
NM_013382.5(POMT2):c.2175C>T (p.Tyr725=) rs116434191
NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu) rs267606969
NM_013382.5(POMT2):c.2182G>A (p.Val728Ile) rs1367401943
NM_013382.5(POMT2):c.2228G>T (p.Arg743Met) rs767359121
NM_013382.5(POMT2):c.2242T>C (p.Trp748Arg) rs267606964
NM_013382.5(POMT2):c.2251T>C (p.Ter751Arg)
NM_013382.5(POMT2):c.229G>A (p.Asp77Asn) rs200992827
NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.5(POMT2):c.242A>G (p.His81Arg)
NM_013382.5(POMT2):c.248+1G>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.334-3C>A rs1566658848
NM_013382.5(POMT2):c.344G>C (p.Gly115Ala)
NM_013382.5(POMT2):c.346C>T (p.Leu116Phe)
NM_013382.5(POMT2):c.416A>G (p.His139Arg)
NM_013382.5(POMT2):c.47C>G (p.Pro16Arg) rs778898705
NM_013382.5(POMT2):c.49_50delinsA (p.Arg18fs) rs1555356398
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.593T>A (p.Ile198Asn) rs267606972
NM_013382.5(POMT2):c.599T>C (p.Met200Thr)
NM_013382.5(POMT2):c.621G>A (p.Met207Ile) rs551885065
NM_013382.5(POMT2):c.636G>A (p.Lys212=) rs368906346
NM_013382.5(POMT2):c.640A>C (p.Asn214His)
NM_013382.5(POMT2):c.642C>A (p.Asn214Lys)
NM_013382.5(POMT2):c.648C>A (p.Cys216Ter) rs147871747
NM_013382.5(POMT2):c.649G>A (p.Ala217Thr) rs144748043
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)
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.825G>A (p.Val275=) rs779272258
NM_013382.5(POMT2):c.845G>A (p.Arg282His)
NM_013382.5(POMT2):c.884C>G (p.Thr295Arg)
NM_013382.5(POMT2):c.924-10C>T rs142122657
NM_013382.5(POMT2):c.924-2A>C rs886044256
NM_013382.5(POMT2):c.936C>G (p.Asp312Glu)
NM_013382.5(POMT2):c.958C>T (p.Gln320Ter) rs775932206
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997
NM_014254.3(RXYLT1):c.1018C>T (p.Arg340Ter) rs397514695
NM_014254.3(RXYLT1):c.1019_1020delinsTT (p.Arg340Leu) rs397514544
NM_014254.3(RXYLT1):c.1064_1091del (p.Asp355fs) rs397514545
NM_014254.3(RXYLT1):c.1074A>C (p.Thr358=) rs148356495
NM_014254.3(RXYLT1):c.1088G>A (p.Gly363Glu) rs1003835285
NM_014254.3(RXYLT1):c.1091A>C (p.Asn364Thr) rs144060489
NM_014254.3(RXYLT1):c.1103A>C (p.His368Pro) rs1565908832
NM_014254.3(RXYLT1):c.1105del (p.His369fs) rs759632078
NM_014254.3(RXYLT1):c.113G>A (p.Gly38Glu) rs376486641
NM_014254.3(RXYLT1):c.1147_1152TTTATC[1] (p.383_384FI[1])
NM_014254.3(RXYLT1):c.1170G>A (p.Lys390=) rs145999803
NM_014254.3(RXYLT1):c.1226A>G (p.Glu409Gly) rs141536395
NM_014254.3(RXYLT1):c.123_150del (p.Leu43fs) rs748590408
NM_014254.3(RXYLT1):c.1272G>A (p.Glu424=) rs536862073
NM_014254.3(RXYLT1):c.139del (p.Ala47fs) rs397514696
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.17A>G (p.Lys6Arg) rs145516652
NM_014254.3(RXYLT1):c.184G>A (p.Glu62Lys) rs200250516
NM_014254.3(RXYLT1):c.246A>C (p.Lys82Asn) rs1555225967
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=) rs141095352
NM_014254.3(RXYLT1):c.267T>A (p.Asp89Glu)
NM_014254.3(RXYLT1):c.268A>G (p.Lys90Glu)
NM_014254.3(RXYLT1):c.275C>T (p.Thr92Met) rs73122634
NM_014254.3(RXYLT1):c.279del (p.Gly94fs) rs397514546
NM_014254.3(RXYLT1):c.294C>T (p.Leu98=) rs114694892
NM_014254.3(RXYLT1):c.373G>C (p.Asp125His) rs188655071
NM_014254.3(RXYLT1):c.390G>A (p.Trp130Ter) rs1565899712
NM_014254.3(RXYLT1):c.43C>T (p.Leu15=) rs770861350
NM_014254.3(RXYLT1):c.469G>A (p.Val157Ile) rs114036100
NM_014254.3(RXYLT1):c.533C>G (p.Thr178Ser)
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
NM_014254.3(RXYLT1):c.795del (p.Arg266fs) rs397514543
NM_014254.3(RXYLT1):c.825G>A (p.Thr275=) rs115076664
NM_014254.3(RXYLT1):c.84C>T (p.Phe28=) rs200123669
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_017739.3(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073
NM_017739.3(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.3(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.3(POMGNT1):c.1102_1103GT[1] (p.Gln370fs) rs1553163360
NM_017739.3(POMGNT1):c.1113del (p.Tyr372fs) rs1057517369
NM_017739.3(POMGNT1):c.1152+2T>C rs1553163335
NM_017739.3(POMGNT1):c.121-2A>G rs1057516871
NM_017739.3(POMGNT1):c.1212-1G>C rs1553163254
NM_017739.3(POMGNT1):c.1274G>C (p.Trp425Ser) rs386834011
NM_017739.3(POMGNT1):c.1284+2_1284+19del rs1057516409
NM_017739.3(POMGNT1):c.1285-2A>G rs386834012
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254
NM_017739.3(POMGNT1):c.1319T>G (p.Leu440Arg) rs386834013
NM_017739.3(POMGNT1):c.1340_1344CTGGG[2] (p.Trp451fs) rs386834015
NM_017739.3(POMGNT1):c.1342G>C (p.Gly448Arg) rs386834014
NM_017739.3(POMGNT1):c.1413+1G>C rs587777821
NM_017739.3(POMGNT1):c.1456C>G (p.Arg486Gly) rs534543454
NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960
NM_017739.3(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290
NM_017739.3(POMGNT1):c.1538_1539+2del rs1057516576
NM_017739.3(POMGNT1):c.1539+1G>A rs138642840
NM_017739.3(POMGNT1):c.1539+1G>T rs138642840
NM_017739.3(POMGNT1):c.1539+1del rs1553163077
NM_017739.3(POMGNT1):c.1540-2A>G rs386834016
NM_017739.3(POMGNT1):c.1562del (p.Lys521fs) rs1057517422
NM_017739.3(POMGNT1):c.1604+1G>A rs1553162873
NM_017739.3(POMGNT1):c.1604+2T>C rs1553162872
NM_017739.3(POMGNT1):c.1605-1G>C rs770219373
NM_017739.3(POMGNT1):c.1649+2T>G rs1268759044
NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn) rs193919335
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017739.3(POMGNT1):c.1692_1693CT[1] (p.Ser565fs) rs1057516903
NM_017739.3(POMGNT1):c.1695_1698del (p.Phe566fs) rs1057516986
NM_017739.3(POMGNT1):c.1719del (p.His573fs) rs386834017
NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018
NM_017739.3(POMGNT1):c.1741_1745del (p.Met581fs) rs749332339
NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019
NM_017739.3(POMGNT1):c.1785+2T>G rs386834020
NM_017739.3(POMGNT1):c.1786-1G>A rs1457667479
NM_017739.3(POMGNT1):c.1786-2A>G rs1057517340
NM_017739.3(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.3(POMGNT1):c.1842_1844del (p.Leu614del) rs1553162667
NM_017739.3(POMGNT1):c.1852A>T (p.Lys618Ter) rs1553162663
NM_017739.3(POMGNT1):c.185_186insA (p.Arg63fs) rs1057517153
NM_017739.3(POMGNT1):c.1864del (p.Leu622fs) rs386834021
NM_017739.3(POMGNT1):c.1865T>C (p.Leu622Pro) rs377170894
NM_017739.3(POMGNT1):c.1876del (p.Val626fs) rs386834022
NM_017739.3(POMGNT1):c.1895+1G>A rs386834024
NM_017739.3(POMGNT1):c.1895+1G>C rs386834024
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
NM_017739.3(POMGNT1):c.1895+22_1895+23ins22 rs1553162621
NM_017739.3(POMGNT1):c.1895+5_1895+8del rs386834023
NM_017739.3(POMGNT1):c.1896-1G>C rs386834025
NM_017739.3(POMGNT1):c.1905del (p.Lys635fs) rs1553162601
NM_017739.3(POMGNT1):c.1928del (p.Phe643fs) rs386834026
NM_017739.3(POMGNT1):c.1947G>T (p.Lys649Asn) rs144068158
NM_017739.3(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup) rs1553162587
NM_017739.3(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer) rs1553164129
NM_017739.3(POMGNT1):c.236-1G>T rs1057516477
NM_017739.3(POMGNT1):c.25dup (p.Leu9fs) rs386834027
NM_017739.3(POMGNT1):c.269G>A (p.Arg90His) rs139701867
NM_017739.3(POMGNT1):c.301G>A (p.Val101Ile) rs150576537
NM_017739.3(POMGNT1):c.319C>A (p.Arg107Ser) rs375420073
NM_017739.3(POMGNT1):c.351del (p.Thr118fs) rs386834028
NM_017739.3(POMGNT1):c.354+1G>A rs1057517449
NM_017739.3(POMGNT1):c.355G>A (p.Val119Met) rs148498470
NM_017739.3(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575
NM_017739.3(POMGNT1):c.447del (p.Phe149fs) rs386834029
NM_017739.3(POMGNT1):c.458C>G (p.Ser153Ter) rs1048865247
NM_017739.3(POMGNT1):c.478del (p.Met160fs) rs1057517355
NM_017739.3(POMGNT1):c.512_517dup (p.Arg171_Val172dup) rs1553163909
NM_017739.3(POMGNT1):c.526A>C (p.Thr176Pro) rs386834030
NM_017739.3(POMGNT1):c.593del (p.Ser198fs) rs386834031
NM_017739.3(POMGNT1):c.594C>G (p.Ser198Arg) rs386834032
NM_017739.3(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer) rs1057516478
NM_017739.3(POMGNT1):c.630G>T (p.Trp210Cys) rs386834033
NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034
NM_017739.3(POMGNT1):c.652+1G>A rs386834035
NM_017739.3(POMGNT1):c.653-2A>C rs1553163721
NM_017739.3(POMGNT1):c.667G>A (p.Glu223Lys) rs386834036
NM_017739.3(POMGNT1):c.753G>T (p.Glu251Asp)
NM_017739.3(POMGNT1):c.794G>C (p.Arg265Pro) rs386834010
NM_017739.3(POMGNT1):c.806G>A (p.Cys269Tyr) rs386834037
NM_017739.3(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035
NM_017739.3(POMGNT1):c.875del (p.Asp292fs) rs1057517247
NM_017739.3(POMGNT1):c.879+1G>C rs1553163590
NM_017739.3(POMGNT1):c.879+2T>C rs1057516318
NM_017739.3(POMGNT1):c.879+5G>A rs386834038
NM_017739.3(POMGNT1):c.879+5G>T rs386834038
NM_017739.3(POMGNT1):c.880-1G>A rs1317832573
NM_017739.3(POMGNT1):c.880-2A>G rs1057516830
NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039
NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336
NM_017739.3(POMGNT1):c.982dup (p.Val328fs) rs386834040
NM_017739.3(POMGNT1):c.987del (p.Pro330fs) rs1057516955
NM_021971.2(GMPPB):c.1000G>A rs397509422
NM_021971.2(GMPPB):c.1009T>C (p.Tyr337His) rs1553691683
NM_021971.2(GMPPB):c.1070G>A (p.Arg357His)
NM_021971.2(GMPPB):c.1077C>G (p.Ile359Met) rs1553691662
NM_021971.2(GMPPB):c.130-6T>G rs369862012
NM_021971.2(GMPPB):c.215G>A (p.Gly72Glu) rs1245162935
NM_021971.2(GMPPB):c.218T>C (p.Ile73Thr) rs1553692045
NM_021971.2(GMPPB):c.331G>A (p.Val111Met) rs141201072
NM_021971.2(GMPPB):c.374G>A (p.Arg125Gln) rs758366693
NM_021971.2(GMPPB):c.402+1G>A
NM_021971.2(GMPPB):c.459A>G (p.Thr153=) rs140968388
NM_021971.2(GMPPB):c.525G>T (p.Met175Ile)
NM_021971.2(GMPPB):c.562-9C>A rs183240200
NM_021971.2(GMPPB):c.569C>G (p.Pro190Arg) rs1559697016
NM_021971.2(GMPPB):c.629T>C (p.Met210Thr)
NM_021971.2(GMPPB):c.62C>A (p.Thr21Asn) rs1438380704
NM_021971.2(GMPPB):c.640+1G>A
NM_021971.2(GMPPB):c.656T>C (p.Ile219Thr)
NM_021971.2(GMPPB):c.758A>G (p.Asn253Ser) rs1559696765
NM_021971.2(GMPPB):c.790C>T (p.Gln264Ter)
NM_021971.2(GMPPB):c.792G>C (p.Gln264His) rs1559696652
NM_021971.2(GMPPB):c.831C>T (p.Gly277=) rs763262592
NM_021971.2(GMPPB):c.859C>T (p.Arg287Trp) rs142908436
NM_021971.2(GMPPB):c.877C>T (p.Arg293Trp) rs756682220
NM_021971.2(GMPPB):c.878G>A (p.Arg293Gln) rs748809549
NM_021971.2(GMPPB):c.953T>C (p.Val318Ala)
NM_021971.2(GMPPB):c.955C>T (p.Arg319Cys)
NM_021971.2(GMPPB):c.956G>A (p.Arg319His) rs768327938
NM_021971.2:c.109C>T
NM_021971.2:c.116A>G
NM_021971.2:c.160A>C
NM_021971.2:c.304G>C
NM_021971.2:c.395C>G
NM_021971.2:c.473G>C
NM_021971.2:c.757A>G
NM_021971.2:c.812A>G
NM_021971.2:c.863G>C
NM_021971.2:c.937C>T
NM_021971.2:c.94C>T
NM_024301.5(FKRP):c.-39-2934_564del
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.1020C>T (p.Tyr340=) rs77351928
NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln) rs587780334
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.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.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.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.11C>G (p.Thr4Ser) rs771333733
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu) rs201497063
NM_024301.5(FKRP):c.1236C>G (p.His412Gln)
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) rs769568971
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) rs1555738085
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.1343C>T (p.Pro448Leu) rs104894681
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110
NM_024301.5(FKRP):c.1397G>A (p.Arg466His)
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.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.169G>A (p.Glu57Lys) rs773024545
NM_024301.5(FKRP):c.183C>G (p.Asn61Lys) rs759539583
NM_024301.5(FKRP):c.185C>T (p.Ala62Val) rs1448177835
NM_024301.5(FKRP):c.187G>A (p.Val63Met)
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012
NM_024301.5(FKRP):c.1A>G (p.Met1Val) rs587777223
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.316C>T (p.Pro106Ser)
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.351G>A (p.Pro117=) rs1060504470
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.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.402_403del (p.Arg134_Ala135insTer) rs886041004
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.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.474C>G (p.Ala158=) rs963599756
NM_024301.5(FKRP):c.477G>A (p.Pro159=)
NM_024301.5(FKRP):c.4C>T (p.Arg2Trp)
NM_024301.5(FKRP):c.511C>G (p.Leu171Val) rs766747690
NM_024301.5(FKRP):c.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.531G>A (p.Glu177=) rs768007208
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.551C>T (p.Ala184Val)
NM_024301.5(FKRP):c.554C>T (p.Ala185Val) rs1032563159
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr) rs746905689
NM_024301.5(FKRP):c.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.655G>A (p.Gly219Ser) rs878855080
NM_024301.5(FKRP):c.678C>G (p.Thr226=) rs1060504471
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) rs775681117
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys)
NM_024301.5(FKRP):c.706C>G (p.Leu236Val)
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619
NM_024301.5(FKRP):c.740C>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.757G>T (p.Ala253Ser) rs959679901
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.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.933G>C (p.Glu311Asp)
NM_024301.5(FKRP):c.948del (p.Cys317fs)
NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr) rs104894684
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_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.114C>T (p.Leu38=) rs182189714
NM_032237.5(POMK):c.142T>C (p.Ser48Pro) rs34466747
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.238_239del (p.Glu80fs) rs1454006905
NM_032237.5(POMK):c.254A>G (p.Lys85Arg) rs752925552
NM_032237.5(POMK):c.271G>A (p.Ala91Thr)
NM_032237.5(POMK):c.288del (p.Leu97fs) rs606231306
NM_032237.5(POMK):c.325C>T (p.Gln109Ter) rs587777423
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.410T>G (p.Leu137Arg) rs397509385
NM_032237.5(POMK):c.456C>A (p.His152Gln) rs1363145685
NM_032237.5(POMK):c.502A>C (p.Lys168Gln) rs756014333
NM_032237.5(POMK):c.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)
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.624G>C (p.Leu208=) rs34040483
NM_032237.5(POMK):c.626C>T (p.Pro209Leu) rs369093146
NM_032237.5(POMK):c.687C>T (p.Asp229=) rs751085294
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.759C>T (p.Phe253=) rs201232766
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.795C>T (p.Asp265=) rs36071326
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.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)
NM_032806.6(POMGNT2):c.1123A>G (p.Thr375Ala)
NM_032806.6(POMGNT2):c.1162C>T (p.Leu388Phe) rs139060322
NM_032806.6(POMGNT2):c.119G>A (p.Arg40Gln) rs146229269
NM_032806.6(POMGNT2):c.1219C>T (p.Arg407Trp) rs138480528
NM_032806.6(POMGNT2):c.1232del (p.Gln411fs) rs755487513
NM_032806.6(POMGNT2):c.1233G>A (p.Gln411=) rs9811883
NM_032806.6(POMGNT2):c.1286G>A (p.Arg429His)
NM_032806.6(POMGNT2):c.1313G>A (p.Arg438Gln)
NM_032806.6(POMGNT2):c.1333C>T (p.Arg445Ter) rs387907299
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.1390G>A (p.Val464Met)
NM_032806.6(POMGNT2):c.1402C>T (p.Arg468Trp) rs137873804
NM_032806.6(POMGNT2):c.1415G>A (p.Arg472Gln)
NM_032806.6(POMGNT2):c.1457G>A (p.Arg486Gln)
NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=) rs35207939
NM_032806.6(POMGNT2):c.1514C>G (p.Ser505Cys)
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.1740G>A (p.Thr580=) rs148890110
NM_032806.6(POMGNT2):c.230G>A (p.Arg77His) rs769075803
NM_032806.6(POMGNT2):c.238C>T (p.Arg80Cys) rs780388475
NM_032806.6(POMGNT2):c.239G>A (p.Arg80His) rs146511234
NM_032806.6(POMGNT2):c.25G>A (p.Ala9Thr)
NM_032806.6(POMGNT2):c.262A>G (p.Asn88Asp)
NM_032806.6(POMGNT2):c.283_285TTC[1] (p.Phe96del) rs767570675
NM_032806.6(POMGNT2):c.290A>T (p.His97Leu)
NM_032806.6(POMGNT2):c.30C>T (p.Leu10=) rs147920308
NM_032806.6(POMGNT2):c.332G>A (p.Arg111His) rs778907895
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.396C>G (p.Phe132Leu)
NM_032806.6(POMGNT2):c.397G>A (p.Val133Met)
NM_032806.6(POMGNT2):c.409G>T (p.Ala137Ser) rs760916035
NM_032806.6(POMGNT2):c.421C>T (p.Arg141Cys) rs150758981
NM_032806.6(POMGNT2):c.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.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.473G>A (p.Arg158His) rs387907300
NM_032806.6(POMGNT2):c.484G>A (p.Asp162Asn) rs201407522
NM_032806.6(POMGNT2):c.488A>G (p.Asn163Ser) rs140389725
NM_032806.6(POMGNT2):c.499G>A (p.Val167Ile)
NM_032806.6(POMGNT2):c.528C>T (p.Phe176=) rs777276517
NM_032806.6(POMGNT2):c.537G>C (p.Leu179=) rs149932476
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.610G>A (p.Asp204Asn)
NM_032806.6(POMGNT2):c.625C>T (p.Leu209Phe)
NM_032806.6(POMGNT2):c.635A>G (p.Lys212Arg) rs141665095
NM_032806.6(POMGNT2):c.650G>A (p.Arg217Gln) rs368280765
NM_032806.6(POMGNT2):c.652G>A (p.Ala218Thr) rs1559414478
NM_032806.6(POMGNT2):c.674G>A (p.Arg225Gln) rs138980930
NM_032806.6(POMGNT2):c.680T>A (p.Leu227Gln) rs1559414462
NM_032806.6(POMGNT2):c.71G>A (p.Arg24Gln) rs139245562
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter) rs1553618354
NM_032806.6(POMGNT2):c.747G>C (p.Gln249His)
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu) rs374042455
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.839C>G (p.Thr280Arg)
NM_032806.6(POMGNT2):c.855C>T (p.Gly285=) rs763778888
NM_032806.6(POMGNT2):c.856G>A (p.Glu286Lys)
NM_032806.6(POMGNT2):c.859G>A (p.Glu287Lys) rs774815839
NM_032806.6(POMGNT2):c.861G>A (p.Glu287=) rs187003222
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)
NM_032806.6(POMGNT2):c.997C>T (p.Arg333Trp)
NM_152490.4(B3GALNT2):c.[1438_1455dup18];[979G>A]
NM_152490.5(B3GALNT2):c.1013A>G (p.Asn338Ser) rs1553343724
NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys)
NM_152490.5(B3GALNT2):c.102C>G (p.Ala34=) rs1358930332
NM_152490.5(B3GALNT2):c.1057C>G (p.Leu353Val) rs1553342995
NM_152490.5(B3GALNT2):c.1076G>A (p.Cys359Tyr) rs1553342979
NM_152490.5(B3GALNT2):c.107C>G (p.Pro36Arg) rs1553356108
NM_152490.5(B3GALNT2):c.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.1178G>A (p.Arg393Gln) rs140708018
NM_152490.5(B3GALNT2):c.1214C>T (p.Pro405Leu)
NM_152490.5(B3GALNT2):c.1215C>T (p.Pro405=) rs145518904
NM_152490.5(B3GALNT2):c.1223del (p.Pro408fs) rs1553342786
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.1423C>T (p.Gln475Ter) rs367543077
NM_152490.5(B3GALNT2):c.1433C>T (p.Pro478Leu)
NM_152490.5(B3GALNT2):c.1445C>T (p.Thr482Met)
NM_152490.5(B3GALNT2):c.1468C>T (p.Arg490Trp)
NM_152490.5(B3GALNT2):c.1474G>A (p.Gly492Ser)
NM_152490.5(B3GALNT2):c.1487G>A (p.Arg496Gln) rs111541487
NM_152490.5(B3GALNT2):c.152A>G (p.Tyr51Cys) rs61742900
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842
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.29C>G (p.Pro10Arg) rs1335073175
NM_152490.5(B3GALNT2):c.306_307TG[1] (p.Val103fs) rs367543070
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.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.500A>G (p.Asn167Ser)
NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs) rs367543069
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His) rs201345883
NM_152490.5(B3GALNT2):c.628G>A (p.Val210Met)
NM_152490.5(B3GALNT2):c.652-2A>G rs1553347936
NM_152490.5(B3GALNT2):c.699del (p.Val234fs)
NM_152490.5(B3GALNT2):c.727G>C (p.Val243Leu) rs755405777
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly) rs367543073
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274
NM_152490.5(B3GALNT2):c.763-1G>A
NM_152490.5(B3GALNT2):c.790T>A (p.Phe264Ile)
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) rs367543074
NM_152490.5(B3GALNT2):c.815C>T (p.Ala272Val) rs1558417340
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.875G>C (p.Arg292Pro) rs367543076
NM_152490.5(B3GALNT2):c.896A>G (p.His299Arg)
NM_152490.5(B3GALNT2):c.959T>C (p.Ile320Thr) rs148808160
POMT2, IVS12AS, G-A, -14
Single allele

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