ClinVar Miner

List of variants studied for autosomal ichthyosis syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1132
Download table as spreadsheet
HGVS dbSNP
NC_000009.12:g.128947638C>G
NM_000288.3(PEX7):c.-77T>C rs1321472
NM_000288.3(PEX7):c.-88T>C rs886061115
NM_000288.3(PEX7):c.-91G>A rs772358439
NM_000288.4(PEX7):c.*115A>G
NM_000288.4(PEX7):c.*124A>G
NM_000288.4(PEX7):c.*223T>A
NM_000288.4(PEX7):c.*257_*258insAGT rs1801001
NM_000288.4(PEX7):c.*272A>G rs186705952
NM_000288.4(PEX7):c.*305C>A rs567568009
NM_000288.4(PEX7):c.*305C>T rs567568009
NM_000288.4(PEX7):c.*305_*310del rs886061123
NM_000288.4(PEX7):c.*306T>G rs1050803
NM_000288.4(PEX7):c.*367T>C rs886061124
NM_000288.4(PEX7):c.*38G>A rs41288965
NM_000288.4(PEX7):c.-18C>T
NM_000288.4(PEX7):c.-28G>A rs376808803
NM_000288.4(PEX7):c.-31G>A rs115866467
NM_000288.4(PEX7):c.-35G>A rs886061116
NM_000288.4(PEX7):c.-3G>A rs886061117
NM_000288.4(PEX7):c.-56C>T rs73777751
NM_000288.4(PEX7):c.-65A>T
NM_000288.4(PEX7):c.-69C>A
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.188+3A>G rs200234391
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.418-4G>T rs199552223
NM_000288.4(PEX7):c.496C>T (p.His166Tyr)
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys) rs780186421
NM_000288.4(PEX7):c.748-10T>C rs886061122
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile)
NM_000288.4(PEX7):c.804-5C>T rs369653173
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764
NM_000288.4(PEX7):c.903+8A>G rs779919482
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys) rs201106072
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) rs879706210
NM_000382.3(ALDH3A2):c.*1030G>T
NM_000382.3(ALDH3A2):c.*1082G>A
NM_000382.3(ALDH3A2):c.*1184A>G
NM_000382.3(ALDH3A2):c.*1256C>G
NM_000382.3(ALDH3A2):c.*1258A>C
NM_000382.3(ALDH3A2):c.*1314T>C
NM_000382.3(ALDH3A2):c.*1362G>A
NM_000382.3(ALDH3A2):c.*1452C>G
NM_000382.3(ALDH3A2):c.*1462G>A
NM_000382.3(ALDH3A2):c.*1600C>G
NM_000382.3(ALDH3A2):c.*1609A>G
NM_000382.3(ALDH3A2):c.*1628A>G
NM_000382.3(ALDH3A2):c.*1656C>T
NM_000382.3(ALDH3A2):c.*171A>G
NM_000382.3(ALDH3A2):c.*1721C>T
NM_000382.3(ALDH3A2):c.*1788C>G
NM_000382.3(ALDH3A2):c.*1802A>G
NM_000382.3(ALDH3A2):c.*1877_*1878CA[1]
NM_000382.3(ALDH3A2):c.*1900A>G
NM_000382.3(ALDH3A2):c.*1930C>T
NM_000382.3(ALDH3A2):c.*1938G>A
NM_000382.3(ALDH3A2):c.*1971A>G
NM_000382.3(ALDH3A2):c.*292G>T
NM_000382.3(ALDH3A2):c.*330T>C
NM_000382.3(ALDH3A2):c.*36G>A
NM_000382.3(ALDH3A2):c.*377_*378TG[2]
NM_000382.3(ALDH3A2):c.*378G>A
NM_000382.3(ALDH3A2):c.*439G>C
NM_000382.3(ALDH3A2):c.*630G>A
NM_000382.3(ALDH3A2):c.*636T>C
NM_000382.3(ALDH3A2):c.*669del
NM_000382.3(ALDH3A2):c.*694C>T
NM_000382.3(ALDH3A2):c.*699A>G
NM_000382.3(ALDH3A2):c.*700G>T
NM_000382.3(ALDH3A2):c.*730T>A
NM_000382.3(ALDH3A2):c.*740G>C
NM_000382.3(ALDH3A2):c.*847C>T
NM_000382.3(ALDH3A2):c.*973T>C
NM_000382.3(ALDH3A2):c.-11A>G
NM_000382.3(ALDH3A2):c.-149C>G
NM_000382.3(ALDH3A2):c.-154G>A
NM_000382.3(ALDH3A2):c.-215C>T
NM_000382.3(ALDH3A2):c.-3G>A
NM_000382.3(ALDH3A2):c.-67C>T
NM_000382.3(ALDH3A2):c.-97G>A
NM_000382.3(ALDH3A2):c.1021C>G (p.Pro341Ala) rs140519419
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=) rs144496536
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly) rs147190807
NM_000382.3(ALDH3A2):c.1254T>C (p.Thr418=)
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992
NM_000382.3(ALDH3A2):c.1347T>C (p.Asp449=)
NM_000382.3(ALDH3A2):c.1373G>A (p.Arg458Gln) rs144190241
NM_000382.3(ALDH3A2):c.1392C>T (p.Leu464=)
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=) rs150927045
NM_000382.3(ALDH3A2):c.1431T>A (p.Ala477=)
NM_000382.3(ALDH3A2):c.1444-4C>T
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=) rs7216
NM_000382.3(ALDH3A2):c.287A>G (p.Tyr96Cys)
NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu) rs72547554
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)
NM_000382.3(ALDH3A2):c.303T>C (p.Pro101=)
NM_000382.3(ALDH3A2):c.386-6A>G rs117330764
NM_000382.3(ALDH3A2):c.401T>C (p.Ile134Thr)
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=) rs200806435
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487
NM_000382.3(ALDH3A2):c.566T>C (p.Val189Ala)
NM_000382.3(ALDH3A2):c.639A>G (p.Pro213=) rs140649688
NM_000382.3(ALDH3A2):c.680G>A (p.Arg227Lys)
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr)
NM_000382.3(ALDH3A2):c.786G>A (p.Lys262=)
NM_000382.3(ALDH3A2):c.799-6A>G
NM_000382.3(ALDH3A2):c.86C>T (p.Ala29Val)
NM_000382.3(ALDH3A2):c.87C>G (p.Ala29=)
NM_000382.3(ALDH3A2):c.918T>C (p.Thr306=)
NM_000382.3(ALDH3A2):c.957C>T (p.Thr319=) rs886052690
NM_000382.3(ALDH3A2):c.978G>C (p.Lys326Asn)
NM_000382.3(ALDH3A2):c.989A>G (p.Glu330Gly) rs147200808
NM_001127698.2(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116
NM_001127698.2(SPINK5):c.802C>T (p.Arg268Cys) rs142558269
NM_001164674.1(SUMF1):c.-25C>G rs780263159
NM_001289148.1(VPS33B):c.*346A>T
NM_001323082.1(PHYH):c.-78G>T rs886046832
NM_001365650.1(ABHD5):c.-114A>G rs74845403
NM_001365650.1(ABHD5):c.-64G>A rs564192984
NM_001365650.1(ABHD5):c.-65G>C rs186175534
NM_001365650.1(ABHD5):c.-68C>G rs561357404
NM_001365650.1(ABHD5):c.-91C>G rs886058487
NM_001365650.1(ABHD5):c.-98C>A rs886058486
NM_004004.5(GJB2):c.*1447G>A rs11839674
NM_004004.5(GJB2):c.-216T>G rs574815423
NM_004004.6(GJB2):c.*1016A>G rs537683957
NM_004004.6(GJB2):c.*1033G>A rs185790172
NM_004004.6(GJB2):c.*1040A>G
NM_004004.6(GJB2):c.*104A>T rs7337074
NM_004004.6(GJB2):c.*1067G>T rs9237
NM_004004.6(GJB2):c.*111C>T rs7329857
NM_004004.6(GJB2):c.*114T>C rs182085649
NM_004004.6(GJB2):c.*1152G>A rs7623
NM_004004.6(GJB2):c.*115A>C
NM_004004.6(GJB2):c.*1197T>A rs11841182
NM_004004.6(GJB2):c.*1206T>G rs886050026
NM_004004.6(GJB2):c.*1277T>C rs7988691
NM_004004.6(GJB2):c.*1291_*1294del rs886050025
NM_004004.6(GJB2):c.*168A>G rs55704559
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.*236A>T
NM_004004.6(GJB2):c.*308G>A
NM_004004.6(GJB2):c.*385G>C
NM_004004.6(GJB2):c.*3C>A rs111033460
NM_004004.6(GJB2):c.*412A>C rs547859391
NM_004004.6(GJB2):c.*423C>T rs112457424
NM_004004.6(GJB2):c.*482A>G rs886050028
NM_004004.6(GJB2):c.*52C>T
NM_004004.6(GJB2):c.*544T>C rs564755659
NM_004004.6(GJB2):c.*550A>G
NM_004004.6(GJB2):c.*598C>A rs550600399
NM_004004.6(GJB2):c.*679T>C
NM_004004.6(GJB2):c.*786G>A rs187158699
NM_004004.6(GJB2):c.*800A>G rs886050027
NM_004004.6(GJB2):c.*84T>C rs3751385
NM_004004.6(GJB2):c.*931C>T rs5030700
NM_004004.6(GJB2):c.*979A>G rs546826225
NM_004004.6(GJB2):c.-15C>T rs72561725
NM_004004.6(GJB2):c.-170C>G
NM_004004.6(GJB2):c.-1G>A
NM_004004.6(GJB2):c.-22-12C>T rs9578260
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-22-6T>C rs141962118
NM_004004.6(GJB2):c.-45C>A rs397516868
NM_004004.6(GJB2):c.-6T>A rs148136545
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.174A>G (p.Pro58=)
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.287C>G (p.Ala96Gly)
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053
NM_004004.6(GJB2):c.546G>A (p.Val182=)
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.557C>T (p.Thr186Met)
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084
NM_004782.4(SNAP29):c.*1061C>T rs557600796
NM_004782.4(SNAP29):c.*1129T>C rs165801
NM_004782.4(SNAP29):c.*1174C>T
NM_004782.4(SNAP29):c.*123G>C rs3171741
NM_004782.4(SNAP29):c.*1315C>G rs41277337
NM_004782.4(SNAP29):c.*138C>T rs375995790
NM_004782.4(SNAP29):c.*1437T>C
NM_004782.4(SNAP29):c.*1438G>A
NM_004782.4(SNAP29):c.*1490T>C rs12168260
NM_004782.4(SNAP29):c.*1519T>C rs165861
NM_004782.4(SNAP29):c.*1543A>C rs9613204
NM_004782.4(SNAP29):c.*1563T>G rs11577
NM_004782.4(SNAP29):c.*1570T>C rs534348201
NM_004782.4(SNAP29):c.*1589T>C rs530035476
NM_004782.4(SNAP29):c.*1667G>A rs370941828
NM_004782.4(SNAP29):c.*1675C>T
NM_004782.4(SNAP29):c.*1789C>A rs756339493
NM_004782.4(SNAP29):c.*1874A>C
NM_004782.4(SNAP29):c.*2028G>A rs563529946
NM_004782.4(SNAP29):c.*2039T>G
NM_004782.4(SNAP29):c.*2052A>T rs74557072
NM_004782.4(SNAP29):c.*2059C>T
NM_004782.4(SNAP29):c.*2105T>G rs5752201
NM_004782.4(SNAP29):c.*210A>C
NM_004782.4(SNAP29):c.*2111G>T rs551094177
NM_004782.4(SNAP29):c.*2121dup rs886057272
NM_004782.4(SNAP29):c.*2143G>A rs370242754
NM_004782.4(SNAP29):c.*2168A>C rs886057273
NM_004782.4(SNAP29):c.*2171T>C
NM_004782.4(SNAP29):c.*2179G>A rs553271593
NM_004782.4(SNAP29):c.*2261G>A rs165744
NM_004782.4(SNAP29):c.*2261G>T rs165744
NM_004782.4(SNAP29):c.*2277C>T
NM_004782.4(SNAP29):c.*2280G>A
NM_004782.4(SNAP29):c.*2304C>T rs886057274
NM_004782.4(SNAP29):c.*2364A>G
NM_004782.4(SNAP29):c.*240C>T rs886057265
NM_004782.4(SNAP29):c.*2411T>C rs139989203
NM_004782.4(SNAP29):c.*2412C>T
NM_004782.4(SNAP29):c.*242G>A
NM_004782.4(SNAP29):c.*2484G>C
NM_004782.4(SNAP29):c.*2501G>A rs112984030
NM_004782.4(SNAP29):c.*2551G>A rs73162856
NM_004782.4(SNAP29):c.*255G>A rs187586025
NM_004782.4(SNAP29):c.*2564dup rs886057275
NM_004782.4(SNAP29):c.*2678T>C
NM_004782.4(SNAP29):c.*267C>T
NM_004782.4(SNAP29):c.*2692C>T rs148419415
NM_004782.4(SNAP29):c.*26T>C
NM_004782.4(SNAP29):c.*2712G>A
NM_004782.4(SNAP29):c.*2738G>A
NM_004782.4(SNAP29):c.*2749A>G
NM_004782.4(SNAP29):c.*2777G>A rs374333957
NM_004782.4(SNAP29):c.*2783C>T rs142566638
NM_004782.4(SNAP29):c.*2791T>C rs187911143
NM_004782.4(SNAP29):c.*2795C>T rs9625042
NM_004782.4(SNAP29):c.*2796G>A
NM_004782.4(SNAP29):c.*2816A>G rs165739
NM_004782.4(SNAP29):c.*2856G>A rs9625044
NM_004782.4(SNAP29):c.*2868A>G
NM_004782.4(SNAP29):c.*2872G>A rs111581119
NM_004782.4(SNAP29):c.*2879C>T rs140626919
NM_004782.4(SNAP29):c.*2892C>T
NM_004782.4(SNAP29):c.*2912G>A rs886057276
NM_004782.4(SNAP29):c.*2937_*2944del rs361606
NM_004782.4(SNAP29):c.*2944A>G
NM_004782.4(SNAP29):c.*2944del rs361606
NM_004782.4(SNAP29):c.*2961T>C rs165715
NM_004782.4(SNAP29):c.*3014C>T
NM_004782.4(SNAP29):c.*3015G>A rs145199625
NM_004782.4(SNAP29):c.*3035C>T rs886057278
NM_004782.4(SNAP29):c.*3107C>T rs886057279
NM_004782.4(SNAP29):c.*3156G>A
NM_004782.4(SNAP29):c.*3171G>A rs886057280
NM_004782.4(SNAP29):c.*3193G>A rs553460221
NM_004782.4(SNAP29):c.*3233A>G
NM_004782.4(SNAP29):c.*3246A>G
NM_004782.4(SNAP29):c.*3252T>G rs376610436
NM_004782.4(SNAP29):c.*3268T>C
NM_004782.4(SNAP29):c.*3283T>G
NM_004782.4(SNAP29):c.*3284G>T
NM_004782.4(SNAP29):c.*3285G>T
NM_004782.4(SNAP29):c.*420A>G rs178077
NM_004782.4(SNAP29):c.*472_*483delinsT rs1555915252
NM_004782.4(SNAP29):c.*477_*478AC[20] rs575240461
NM_004782.4(SNAP29):c.*477_*478AC[21] rs575240461
NM_004782.4(SNAP29):c.*477_*478AC[23] rs575240461
NM_004782.4(SNAP29):c.*477_*478AC[24] rs575240461
NM_004782.4(SNAP29):c.*496C>G
NM_004782.4(SNAP29):c.*505_*522del rs368659383
NM_004782.4(SNAP29):c.*507A>C
NM_004782.4(SNAP29):c.*513_*522del rs771299879
NM_004782.4(SNAP29):c.*515_*522del rs371833796
NM_004782.4(SNAP29):c.*517_*522del rs376990505
NM_004782.4(SNAP29):c.*519A>T rs200263284
NM_004782.4(SNAP29):c.*519_*522del rs747974281
NM_004782.4(SNAP29):c.*521T>A rs361998
NM_004782.4(SNAP29):c.*590T>C
NM_004782.4(SNAP29):c.*614C>G rs192171507
NM_004782.4(SNAP29):c.*61C>G
NM_004782.4(SNAP29):c.*624C>T
NM_004782.4(SNAP29):c.*6G>A
NM_004782.4(SNAP29):c.*740C>T rs79383799
NM_004782.4(SNAP29):c.*755A>G
NM_004782.4(SNAP29):c.*780G>T rs543150102
NM_004782.4(SNAP29):c.*816C>T rs886057271
NM_004782.4(SNAP29):c.*822C>T
NM_004782.4(SNAP29):c.*840G>C rs554942555
NM_004782.4(SNAP29):c.*948G>A
NM_004782.4(SNAP29):c.*991C>A
NM_004782.4(SNAP29):c.-19C>T rs1061063
NM_004782.4(SNAP29):c.-32C>G rs202138036
NM_004782.4(SNAP29):c.-40T>G rs886057263
NM_004782.4(SNAP29):c.-58C>A
NM_004782.4(SNAP29):c.-5G>A rs139884576
NM_004782.4(SNAP29):c.-60G>A
NM_004782.4(SNAP29):c.-68A>T rs117593372
NM_004782.4(SNAP29):c.-70_-69del rs886057262
NM_004782.4(SNAP29):c.-76G>A rs376809644
NM_004782.4(SNAP29):c.-8C>G rs186825747
NM_004782.4(SNAP29):c.-93G>T
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127
NM_004782.4(SNAP29):c.18A>G (p.Lys6=) rs1061064
NM_004782.4(SNAP29):c.199A>G (p.Met67Val)
NM_004782.4(SNAP29):c.234C>G (p.Ser78=) rs144160898
NM_004782.4(SNAP29):c.237+10G>T
NM_004782.4(SNAP29):c.238-12C>T
NM_004782.4(SNAP29):c.240G>A (p.Glu80=) rs528593119
NM_004782.4(SNAP29):c.265G>A (p.Glu89Lys) rs151146863
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly) rs116892729
NM_004782.4(SNAP29):c.502A>G (p.Arg168Gly) rs886057264
NM_004782.4(SNAP29):c.518C>G (p.Thr173Arg)
NM_004782.4(SNAP29):c.520+14T>C
NM_004782.4(SNAP29):c.550A>G (p.Met184Val) rs770234475
NM_004782.4(SNAP29):c.580C>T (p.His194Tyr) rs766339332
NM_004782.4(SNAP29):c.607G>A (p.Asp203Asn)
NM_004782.4(SNAP29):c.620-4G>A
NM_004782.4(SNAP29):c.620-6C>G
NM_004782.4(SNAP29):c.643C>T (p.Arg215Cys) rs371123997
NM_004782.4(SNAP29):c.697A>G (p.Ile233Val)
NM_004782.4(SNAP29):c.6A>G (p.Ser2=) rs770386845
NM_004782.4(SNAP29):c.72T>A (p.Pro24=) rs149837436
NM_006214.4(PHYH):c.*188A>C
NM_006214.4(PHYH):c.*189del rs3839912
NM_006214.4(PHYH):c.*22T>G rs186628076
NM_006214.4(PHYH):c.*253G>T
NM_006214.4(PHYH):c.*25C>T
NM_006214.4(PHYH):c.*417A>G
NM_006214.4(PHYH):c.*434A>G
NM_006214.4(PHYH):c.*47G>A rs180770135
NM_006214.4(PHYH):c.*499C>T
NM_006214.4(PHYH):c.*65G>A rs11133
NM_006214.4(PHYH):c.-20G>C rs546291238
NM_006214.4(PHYH):c.1009A>G (p.Asn337Asp) rs758218321
NM_006214.4(PHYH):c.126A>G (p.Gln42=) rs150631501
NM_006214.4(PHYH):c.135-2A>G rs201578674
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682
NM_006214.4(PHYH):c.176A>C (p.Lys59Thr) rs886046831
NM_006214.4(PHYH):c.245G>A (p.Arg82Gln) rs886046830
NM_006214.4(PHYH):c.321G>A (p.Ser107=) rs115198308
NM_006214.4(PHYH):c.321G>T (p.Ser107=) rs115198308
NM_006214.4(PHYH):c.354C>G (p.Ile118Met) rs779724199
NM_006214.4(PHYH):c.356C>T (p.Thr119Met) rs34571629
NM_006214.4(PHYH):c.415-11del rs140309981
NM_006214.4(PHYH):c.574G>A (p.Ala192Thr) rs751660253
NM_006214.4(PHYH):c.581C>T (p.Thr194Met) rs141554572
NM_006214.4(PHYH):c.601C>G (p.Arg201Gly) rs143957922
NM_006214.4(PHYH):c.606C>A (p.Asn202Lys) rs201979258
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407
NM_006214.4(PHYH):c.643G>A (p.Gly215Ser) rs7901902
NM_006214.4(PHYH):c.678+15C>T rs140995522
NM_006214.4(PHYH):c.678+5G>T rs201499815
NM_006214.4(PHYH):c.679-11T>A rs886046828
NM_006214.4(PHYH):c.679G>T (p.Gly227Trp)
NM_006214.4(PHYH):c.703G>A (p.Gly235Arg) rs750819521
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006214.4(PHYH):c.739C>T (p.His247Tyr)
NM_006214.4(PHYH):c.76-9A>T rs368542152
NM_006214.4(PHYH):c.792C>T (p.His264=) rs372047384
NM_006214.4(PHYH):c.828+4A>T
NM_006214.4(PHYH):c.829-3C>A rs116930123
NM_006214.4(PHYH):c.83A>G (p.His28Arg)
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169
NM_006214.4(PHYH):c.93A>C (p.Ser31=) rs202198596
NM_006214.4(PHYH):c.948T>C (p.Asn316=)
NM_006214.4(PHYH):c.980G>A (p.Arg327Gln) rs367851769
NM_006846.3(SPINK5):c.*208C>G rs3088193
NM_006846.3(SPINK5):c.*229A>C rs759149324
NM_006846.3(SPINK5):c.*330T>C rs72660265
NM_006846.3(SPINK5):c.*358A>G rs527953668
NM_006846.3(SPINK5):c.*361_*363dup rs397704765
NM_006846.3(SPINK5):c.*44T>C rs4349706
NM_006846.3(SPINK5):c.*59C>T rs73794699
NM_006846.3(SPINK5):c.*78A>G rs774183421
NM_006846.3(SPINK5):c.-10C>T rs778902700
NM_006846.3(SPINK5):c.-61A>C rs74572734
NM_006846.3(SPINK5):c.1128C>T (p.Asn376=) rs78128189
NM_006846.3(SPINK5):c.1194C>T (p.Asn398=) rs750608792
NM_006846.3(SPINK5):c.119G>C (p.Gly40Ala) rs73269156
NM_006846.3(SPINK5):c.1322G>A (p.Arg441His) rs34393923
NM_006846.3(SPINK5):c.1344G>A (p.Arg448=) rs17107741
NM_006846.3(SPINK5):c.1431-10T>G rs759079847
NM_006846.3(SPINK5):c.1552C>T (p.Arg518Cys) rs115504632
NM_006846.3(SPINK5):c.1605G>A (p.Val535=) rs201831966
NM_006846.3(SPINK5):c.1605G>T (p.Val535=) rs201831966
NM_006846.3(SPINK5):c.1607+7G>T rs541432320
NM_006846.3(SPINK5):c.1615_1618delinsCTTTTTCTATTACAGCA (p.Glu539fs) rs1561693720
NM_006846.3(SPINK5):c.1764T>G (p.Ile588Met) rs35877540
NM_006846.3(SPINK5):c.1820+11G>A rs796478719
NM_006846.3(SPINK5):c.1851T>C (p.Ala617=) rs17718737
NM_006846.3(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576
NM_006846.3(SPINK5):c.2061G>A (p.Gln687=) rs36111383
NM_006846.3(SPINK5):c.209+15C>T rs3752677
NM_006846.3(SPINK5):c.2124T>C (p.Ala708=) rs200884153
NM_006846.3(SPINK5):c.2239T>C (p.Leu747=) rs759451448
NM_006846.3(SPINK5):c.2241-6C>T rs190365795
NM_006846.3(SPINK5):c.2290G>T (p.Gly764Trp) rs778017808
NM_006846.3(SPINK5):c.2360T>C (p.Ile787Thr) rs759856421
NM_006846.3(SPINK5):c.2661C>G (p.Ser887Arg) rs28408445
NM_006846.3(SPINK5):c.2666+4C>T rs376671081
NM_006846.3(SPINK5):c.2667-4G>A rs180955184
NM_006846.3(SPINK5):c.2736A>G (p.Ala912=) rs773053071
NM_006846.3(SPINK5):c.2754A>G (p.Glu918=) rs114635730
NM_006846.3(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166
NM_006846.3(SPINK5):c.2795G>A (p.Arg932Lys) rs201942775
NM_006846.3(SPINK5):c.2864T>C (p.Val955Ala) rs115820034
NM_006846.3(SPINK5):c.2895G>A (p.Lys965=) rs34966234
NM_006846.3(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691
NM_006846.3(SPINK5):c.2915A>G (p.His972Arg) rs17705005
NM_006846.3(SPINK5):c.2965-10G>C rs58888156
NM_006846.3(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225
NM_006846.3(SPINK5):c.3075C>T (p.Cys1025=) rs571812048
NM_006846.3(SPINK5):c.3113C>A (p.Thr1038Lys) rs370311628
NM_006846.3(SPINK5):c.3121C>T (p.Arg1041Cys) rs374003659
NM_006846.3(SPINK5):c.316G>A (p.Asp106Asn) rs17860502
NM_006846.3(SPINK5):c.3183G>A (p.Pro1061=) rs77756935
NM_006846.3(SPINK5):c.3186+8C>T rs115366845
NM_006846.3(SPINK5):c.531G>A (p.Arg177=) rs35121983
NM_006846.3(SPINK5):c.606A>C (p.Leu202Phe) rs750627345
NM_006846.3(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_006846.3(SPINK5):c.739C>T (p.Arg247Cys) rs371290967
NM_006846.3(SPINK5):c.750C>T (p.Asp250=) rs199793551
NM_006846.3(SPINK5):c.834A>C (p.Gln278His) rs201354872
NM_006846.4(SPINK5):c.*301C>T
NM_006846.4(SPINK5):c.*90G>A
NM_006846.4(SPINK5):c.-19G>A
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val) rs34482796
NM_006846.4(SPINK5):c.1011-12C>T rs1422991
NM_006846.4(SPINK5):c.1093-10A>G rs2303062
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter)
NM_006846.4(SPINK5):c.1129G>A (p.Gly377Arg)
NM_006846.4(SPINK5):c.1132A>C (p.Lys378Gln) rs180696183
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064
NM_006846.4(SPINK5):c.1188T>C (p.His396=) rs2303065
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067
NM_006846.4(SPINK5):c.1339G>A (p.Gly447Arg)
NM_006846.4(SPINK5):c.1384G>A (p.Asp462Asn)
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=) rs6896303
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys) rs190657753
NM_006846.4(SPINK5):c.1540C>A (p.His514Asn)
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071
NM_006846.4(SPINK5):c.1732C>A (p.Arg578=) rs201674667
NM_006846.4(SPINK5):c.1739C>G (p.Pro580Arg)
NM_006846.4(SPINK5):c.1772T>C (p.Leu591Pro)
NM_006846.4(SPINK5):c.1897G>A (p.Asp633Asn)
NM_006846.4(SPINK5):c.1919A>C (p.Gln640Pro)
NM_006846.4(SPINK5):c.2108C>T (p.Thr703Ile)
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134
NM_006846.4(SPINK5):c.2343G>C (p.Met781Ile)
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=) rs17704908
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=) rs33920397
NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp) rs2303070
NM_006846.4(SPINK5):c.2652G>A (p.Met884Ile)
NM_006846.4(SPINK5):c.2667-13A>T rs2052537
NM_006846.4(SPINK5):c.274C>A (p.Pro92Thr)
NM_006846.4(SPINK5):c.2964+14T>G
NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=) rs2400478
NM_006846.4(SPINK5):c.3043G>A (p.Gly1015Ser)
NM_006846.4(SPINK5):c.3190G>A (p.Glu1064Lys)
NM_006846.4(SPINK5):c.489T>A (p.Ala163=) rs574656084
NM_006846.4(SPINK5):c.493C>T (p.Arg165Trp)
NM_006846.4(SPINK5):c.628C>A (p.Arg210=)
NM_006846.4(SPINK5):c.738C>T (p.Val246=) rs149544665
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg) rs6892205
NM_006846.4(SPINK5):c.840G>T (p.Leu280Phe)
NM_006846.4(SPINK5):c.860C>A (p.Thr287Asn)
NM_014908.3(DOLK):c.*124A>G rs758102948
NM_014908.3(DOLK):c.-149G>A rs886063515
NM_014908.3(DOLK):c.-194G>T rs886063516
NM_014908.3(DOLK):c.-255C>T rs886063517
NM_014908.3(DOLK):c.-269G>T rs371065378
NM_014908.3(DOLK):c.-386C>A rs576979416
NM_014908.3(DOLK):c.-394A>G rs750538185
NM_014908.3(DOLK):c.-49A>G rs116439010
NM_014908.3(DOLK):c.-94G>T rs567989779
NM_014908.3(DOLK):c.1130G>A (p.Arg377His) rs374317240
NM_014908.3(DOLK):c.1166G>A (p.Arg389Gln) rs201984428
NM_014908.3(DOLK):c.1257C>G (p.Ile419Met) rs138962748
NM_014908.3(DOLK):c.1446G>A (p.Ala482=) rs201027607
NM_014908.3(DOLK):c.1481A>G (p.Asp494Gly) rs145292760
NM_014908.3(DOLK):c.192A>G (p.Leu64=) rs563156233
NM_014908.3(DOLK):c.210C>G (p.Val70=) rs750368652
NM_014908.3(DOLK):c.219C>G (p.Phe73Leu) rs761385789
NM_014908.3(DOLK):c.513T>C (p.Leu171=) rs886063514
NM_014908.3(DOLK):c.579G>A (p.Glu193=) rs28365522
NM_014908.3(DOLK):c.633C>T (p.Arg211=) rs147647278
NM_014908.3(DOLK):c.700A>G (p.Met234Val) rs139787271
NM_014908.3(DOLK):c.771C>T (p.Ile257=) rs147416890
NM_014908.3(DOLK):c.873C>T (p.Leu291=) rs148646968
NM_014908.4(DOLK):c.*20G>A
NM_014908.4(DOLK):c.-211C>T
NM_014908.4(DOLK):c.-22G>A
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255
NM_014908.4(DOLK):c.1196G>A (p.Arg399Gln)
NM_014908.4(DOLK):c.1290T>G (p.Gly430=)
NM_014908.4(DOLK):c.1314C>T (p.Leu438=) rs148118523
NM_014908.4(DOLK):c.1437T>C (p.Ser479=) rs574290806
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val) rs147630977
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062
NM_014908.4(DOLK):c.18A>G (p.Pro6=)
NM_014908.4(DOLK):c.275G>C (p.Gly92Ala)
NM_014908.4(DOLK):c.525T>G (p.Val175=) rs200278288
NM_014908.4(DOLK):c.621G>T (p.Gln207His)
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) rs145310298
NM_015354.3(NUP188):c.-13C>T rs3750324
NM_015354.3(NUP188):c.-6G>A rs201511915
NM_015354.3(NUP188):c.8C>T (p.Ala3Val) rs746695959
NM_016006.6(ABHD5):c.*1009T>A rs781163659
NM_016006.6(ABHD5):c.*1011G>C rs373123930
NM_016006.6(ABHD5):c.*1076G>A
NM_016006.6(ABHD5):c.*1110G>C rs2191361
NM_016006.6(ABHD5):c.*1201G>A rs886058490
NM_016006.6(ABHD5):c.*125A>T rs752632573
NM_016006.6(ABHD5):c.*1265A>G rs886058491
NM_016006.6(ABHD5):c.*1346_*1348del rs58997366
NM_016006.6(ABHD5):c.*1371A>G rs886058492
NM_016006.6(ABHD5):c.*1417A>G rs3733156
NM_016006.6(ABHD5):c.*1466T>C rs886058493
NM_016006.6(ABHD5):c.*1485A>T
NM_016006.6(ABHD5):c.*1537C>G
NM_016006.6(ABHD5):c.*154A>C
NM_016006.6(ABHD5):c.*1566G>A rs554908983
NM_016006.6(ABHD5):c.*1568T>C rs563435148
NM_016006.6(ABHD5):c.*1596A>T
NM_016006.6(ABHD5):c.*1613T>C rs12491747
NM_016006.6(ABHD5):c.*1662A>G rs117110703
NM_016006.6(ABHD5):c.*1729T>G rs139091067
NM_016006.6(ABHD5):c.*1756G>T rs34048061
NM_016006.6(ABHD5):c.*1757A>G rs113347419
NM_016006.6(ABHD5):c.*1758_*1759insG rs34011416
NM_016006.6(ABHD5):c.*1834C>G rs12488350
NM_016006.6(ABHD5):c.*1860del rs571429944
NM_016006.6(ABHD5):c.*1863G>A rs12488392
NM_016006.6(ABHD5):c.*1895C>A rs886058495
NM_016006.6(ABHD5):c.*1934del rs886058496
NM_016006.6(ABHD5):c.*1957G>T rs144021874
NM_016006.6(ABHD5):c.*2048T>G
NM_016006.6(ABHD5):c.*2057A>T rs886058497
NM_016006.6(ABHD5):c.*2064G>C rs148657202
NM_016006.6(ABHD5):c.*2099A>T
NM_016006.6(ABHD5):c.*2109T>C
NM_016006.6(ABHD5):c.*2128T>C
NM_016006.6(ABHD5):c.*2137A>G rs144521114
NM_016006.6(ABHD5):c.*2206G>A
NM_016006.6(ABHD5):c.*227T>C
NM_016006.6(ABHD5):c.*2304G>T rs886058498
NM_016006.6(ABHD5):c.*2324G>T rs17075919
NM_016006.6(ABHD5):c.*2349T>C
NM_016006.6(ABHD5):c.*2392dup rs767567435
NM_016006.6(ABHD5):c.*2445T>G rs572387719
NM_016006.6(ABHD5):c.*2463A>G rs76200032
NM_016006.6(ABHD5):c.*2492C>T
NM_016006.6(ABHD5):c.*2500A>G
NM_016006.6(ABHD5):c.*2508A>G rs75590382
NM_016006.6(ABHD5):c.*2540A>G
NM_016006.6(ABHD5):c.*2542A>G rs886058500
NM_016006.6(ABHD5):c.*2717dup rs201589254
NM_016006.6(ABHD5):c.*2718del rs886058502
NM_016006.6(ABHD5):c.*281C>A rs34226283
NM_016006.6(ABHD5):c.*2926G>A rs187702555
NM_016006.6(ABHD5):c.*2935C>A rs10433606
NM_016006.6(ABHD5):c.*2965C>G rs886058503
NM_016006.6(ABHD5):c.*29G>C rs376897300
NM_016006.6(ABHD5):c.*302T>A rs886058489
NM_016006.6(ABHD5):c.*3050_*3051del rs529300680
NM_016006.6(ABHD5):c.*3171G>T
NM_016006.6(ABHD5):c.*3186C>T rs886058505
NM_016006.6(ABHD5):c.*3253A>T rs10433548
NM_016006.6(ABHD5):c.*3289_*3292ACAG[1] rs542283317
NM_016006.6(ABHD5):c.*3292G>A
NM_016006.6(ABHD5):c.*3372A>C rs564535027
NM_016006.6(ABHD5):c.*3671A>G rs886058507
NM_016006.6(ABHD5):c.*3680A>C rs549324985
NM_016006.6(ABHD5):c.*3700T>C
NM_016006.6(ABHD5):c.*3730C>T rs886058508
NM_016006.6(ABHD5):c.*3755G>A rs551893817
NM_016006.6(ABHD5):c.*3761A>G rs886058509
NM_016006.6(ABHD5):c.*3806T>C rs528104363
NM_016006.6(ABHD5):c.*3832C>T
NM_016006.6(ABHD5):c.*3833G>T rs539827619
NM_016006.6(ABHD5):c.*3875A>G
NM_016006.6(ABHD5):c.*3885G>T
NM_016006.6(ABHD5):c.*38T>G rs887472
NM_016006.6(ABHD5):c.*392T>G
NM_016006.6(ABHD5):c.*3952T>C rs758729
NM_016006.6(ABHD5):c.*4147G>T rs758728
NM_016006.6(ABHD5):c.*4188A>C
NM_016006.6(ABHD5):c.*4189C>T rs113711457
NM_016006.6(ABHD5):c.*464A>G
NM_016006.6(ABHD5):c.*57T>C
NM_016006.6(ABHD5):c.*707A>G rs765950590
NM_016006.6(ABHD5):c.*848C>T
NM_016006.6(ABHD5):c.*879G>A rs577414446
NM_016006.6(ABHD5):c.*916C>T
NM_016006.6(ABHD5):c.*96A>G
NM_016006.6(ABHD5):c.-19C>T rs117630969
NM_016006.6(ABHD5):c.-24C>T rs189850893
NM_016006.6(ABHD5):c.-30A>G rs367627114
NM_016006.6(ABHD5):c.-48C>T
NM_016006.6(ABHD5):c.1025A>G (p.Lys342Arg) rs754772724
NM_016006.6(ABHD5):c.11A>C (p.Glu4Ala)
NM_016006.6(ABHD5):c.12G>A (p.Glu4=) rs141365045
NM_016006.6(ABHD5):c.201G>C (p.Lys67Asn)
NM_016006.6(ABHD5):c.202T>C (p.Phe68Leu) rs115209685
NM_016006.6(ABHD5):c.215T>C (p.Ile72Thr) rs2302349
NM_016006.6(ABHD5):c.228T>G (p.Thr76=) rs377718797
NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly) rs144420157
NM_016006.6(ABHD5):c.341G>T (p.Arg114Leu) rs148743497
NM_016006.6(ABHD5):c.345T>C (p.Ser115=) rs777749420
NM_016006.6(ABHD5):c.39C>T (p.Thr13=) rs140969259
NM_016006.6(ABHD5):c.418T>G (p.Cys140Gly)
NM_016006.6(ABHD5):c.430T>C (p.Leu144=) rs767197048
NM_016006.6(ABHD5):c.43G>A (p.Glu15Lys)
NM_016006.6(ABHD5):c.444C>T (p.Ile148=)
NM_016006.6(ABHD5):c.48-4C>G rs183345998
NM_016006.6(ABHD5):c.640C>A (p.Leu214Ile) rs540791910
NM_016006.6(ABHD5):c.662-10T>G rs372889561
NM_016006.6(ABHD5):c.806C>T (p.Pro269Leu) rs773285310
NM_016006.6(ABHD5):c.885C>T (p.Gly295=) rs746970260
NM_016006.6(ABHD5):c.906C>A (p.Gly302=) rs886058488
NM_016006.6(ABHD5):c.961-15C>T
NM_016006.6(ABHD5):c.984T>C (p.Tyr328=)
NM_018668.4(VPS33B):c.*125C>T rs76401688
NM_018668.4(VPS33B):c.*155A>G rs886051555
NM_018668.4(VPS33B):c.*262T>G rs886051554
NM_018668.4(VPS33B):c.-131G>A rs755401805
NM_018668.4(VPS33B):c.-137A>G rs886051557
NM_018668.4(VPS33B):c.-269T>C rs561174112
NM_018668.4(VPS33B):c.-271A>C rs116461458
NM_018668.4(VPS33B):c.-299T>G rs773762275
NM_018668.4(VPS33B):c.-325T>C rs11073967
NM_018668.4(VPS33B):c.-335C>T rs886051558
NM_018668.4(VPS33B):c.-8C>T rs11542639
NM_018668.4(VPS33B):c.1105+10G>A rs370555380
NM_018668.4(VPS33B):c.1105+9C>T rs3826033
NM_018668.4(VPS33B):c.1148T>C (p.Ile383Thr) rs149121639
NM_018668.4(VPS33B):c.1170+5G>A rs201431055
NM_018668.4(VPS33B):c.1192C>T (p.Arg398Cys) rs943813904
NM_018668.4(VPS33B):c.1274G>A (p.Ser425Asn) rs139709507
NM_018668.4(VPS33B):c.1332G>A (p.Thr444=) rs147407982
NM_018668.4(VPS33B):c.133C>A (p.Leu45Ile) rs199874738
NM_018668.4(VPS33B):c.136A>T (p.Met46Leu) rs202141764
NM_018668.4(VPS33B):c.151C>A (p.Arg51=) rs11542638
NM_018668.4(VPS33B):c.1540G>A (p.Gly514Ser) rs11073964
NM_018668.4(VPS33B):c.1591C>T (p.Arg531Trp) rs758814929
NM_018668.4(VPS33B):c.1656A>T (p.Thr552=) rs16945153
NM_018668.4(VPS33B):c.1671A>G (p.Glu557=) rs148071246
NM_018668.4(VPS33B):c.1701C>T (p.Leu567=) rs146999653
NM_018668.4(VPS33B):c.240-13_240-12del rs111274092
NM_018668.4(VPS33B):c.240-9C>T rs781107857
NM_018668.4(VPS33B):c.357G>A (p.Lys119=) rs146758743
NM_018668.4(VPS33B):c.363T>C (p.Tyr121=) rs149733667
NM_018668.4(VPS33B):c.403+2T>A rs769333468
NM_018668.4(VPS33B):c.404-14C>G rs886051556
NM_018668.4(VPS33B):c.597C>T (p.Cys199=) rs60198611
NM_018668.4(VPS33B):c.609A>G (p.Ala203=) rs76867988
NM_018668.4(VPS33B):c.648C>T (p.Gly216=) rs59648701
NM_018668.4(VPS33B):c.662G>A (p.Arg221Gln) rs377754864
NM_018668.4(VPS33B):c.680A>G (p.His227Arg) rs760894269
NM_018668.4(VPS33B):c.75G>A (p.Gln25=) rs1289650070
NM_018668.4(VPS33B):c.868C>T (p.Arg290Trp) rs750350100
NM_018668.4(VPS33B):c.941G>A (p.Arg314His) rs201698361
NM_018668.4(VPS33B):c.944G>A (p.Arg315Gln) rs145303578
NM_018668.5(VPS33B):c.*10C>T
NM_018668.5(VPS33B):c.*113G>A
NM_018668.5(VPS33B):c.*261T>A
NM_018668.5(VPS33B):c.-120G>A
NM_018668.5(VPS33B):c.-275C>G
NM_018668.5(VPS33B):c.-7C>G
NM_018668.5(VPS33B):c.1165C>T (p.Arg389Trp)
NM_018668.5(VPS33B):c.1166G>A (p.Arg389Gln) rs145070485
NM_018668.5(VPS33B):c.1171-6A>G rs370691219
NM_018668.5(VPS33B):c.1501T>C (p.Tyr501His)
NM_018668.5(VPS33B):c.1719G>C (p.Leu573Phe)
NM_018668.5(VPS33B):c.1775-14A>G
NM_018668.5(VPS33B):c.499-3C>G
NM_018668.5(VPS33B):c.508C>A (p.Gln170Lys)
NM_018668.5(VPS33B):c.604-14T>C
NM_018668.5(VPS33B):c.888T>C (p.Asn296=)
NM_018668.5(VPS33B):c.916C>T (p.Arg306Trp)
NM_139057.4(ADAMTS17):c.*1011_*1016del rs879713910
NM_139057.4(ADAMTS17):c.*1014_*1019del rs11277519
NM_139057.4(ADAMTS17):c.*1016C>T rs886050962
NM_139057.4(ADAMTS17):c.*1024T>G rs886050961
NM_139057.4(ADAMTS17):c.*1054T>C rs886050960
NM_139057.4(ADAMTS17):c.*1065G>A rs886050959
NM_139057.4(ADAMTS17):c.*1078G>A rs2727196
NM_139057.4(ADAMTS17):c.*1083A>G rs2581362
NM_139057.4(ADAMTS17):c.*111C>T rs886050971
NM_139057.4(ADAMTS17):c.*1127C>T
NM_139057.4(ADAMTS17):c.*1130C>T rs377343119
NM_139057.4(ADAMTS17):c.*113A>G rs2581341
NM_139057.4(ADAMTS17):c.*116T>C rs143850369
NM_139057.4(ADAMTS17):c.*1213G>C
NM_139057.4(ADAMTS17):c.*1218T>C rs886050958
NM_139057.4(ADAMTS17):c.*1227_*1230AAGG[1] rs10549565
NM_139057.4(ADAMTS17):c.*1234G>A
NM_139057.4(ADAMTS17):c.*1243C>T rs2581363
NM_139057.4(ADAMTS17):c.*1244C>G rs561561821
NM_139057.4(ADAMTS17):c.*1278A>G
NM_139057.4(ADAMTS17):c.*1288C>T
NM_139057.4(ADAMTS17):c.*1289T>G rs2581365
NM_139057.4(ADAMTS17):c.*1315C>T rs185582795
NM_139057.4(ADAMTS17):c.*1348dup rs545574106
NM_139057.4(ADAMTS17):c.*1419G>A rs75143725
NM_139057.4(ADAMTS17):c.*1431_*1433TCC[1] rs757487035
NM_139057.4(ADAMTS17):c.*1448C>T rs188903672
NM_139057.4(ADAMTS17):c.*1449G>A rs2573625
NM_139057.4(ADAMTS17):c.*1490C>T rs2727195
NM_139057.4(ADAMTS17):c.*1507G>A
NM_139057.4(ADAMTS17):c.*1546G>A rs149694490
NM_139057.4(ADAMTS17):c.*1565G>C
NM_139057.4(ADAMTS17):c.*1600C>T rs185290147
NM_139057.4(ADAMTS17):c.*1642G>A
NM_139057.4(ADAMTS17):c.*1653C>G rs536677830
NM_139057.4(ADAMTS17):c.*1684C>T
NM_139057.4(ADAMTS17):c.*1685G>A
NM_139057.4(ADAMTS17):c.*1706G>A rs117744474
NM_139057.4(ADAMTS17):c.*1708G>C
NM_139057.4(ADAMTS17):c.*1729G>A rs58739070
NM_139057.4(ADAMTS17):c.*172_*174del rs137961566
NM_139057.4(ADAMTS17):c.*1741A>T rs542106384
NM_139057.4(ADAMTS17):c.*1749G>A rs757196506
NM_139057.4(ADAMTS17):c.*1759G>C rs539776359
NM_139057.4(ADAMTS17):c.*1763C>T rs550240800
NM_139057.4(ADAMTS17):c.*1766G>A
NM_139057.4(ADAMTS17):c.*1773G>T rs74037057
NM_139057.4(ADAMTS17):c.*1774C>T rs74037056
NM_139057.4(ADAMTS17):c.*1779T>C rs12440706
NM_139057.4(ADAMTS17):c.*1780G>A rs886050957
NM_139057.4(ADAMTS17):c.*181C>T
NM_139057.4(ADAMTS17):c.*1859C>T
NM_139057.4(ADAMTS17):c.*1899del rs138786481
NM_139057.4(ADAMTS17):c.*189G>C rs2581343
NM_139057.4(ADAMTS17):c.*190G>A rs2727199
NM_139057.4(ADAMTS17):c.*1944G>A rs116429760
NM_139057.4(ADAMTS17):c.*1946G>T rs77749500
NM_139057.4(ADAMTS17):c.*1992G>A rs114383018
NM_139057.4(ADAMTS17):c.*19G>A
NM_139057.4(ADAMTS17):c.*2007G>A rs8041901
NM_139057.4(ADAMTS17):c.*200G>A
NM_139057.4(ADAMTS17):c.*2012C>T rs190592619
NM_139057.4(ADAMTS17):c.*2013T>A
NM_139057.4(ADAMTS17):c.*2013T>G rs2727194
NM_139057.4(ADAMTS17):c.*2015T>C
NM_139057.4(ADAMTS17):c.*2079C>T rs75041141
NM_139057.4(ADAMTS17):c.*2115C>A
NM_139057.4(ADAMTS17):c.*2138C>T rs185690662
NM_139057.4(ADAMTS17):c.*2142_*2144GTT[1] rs886050956
NM_139057.4(ADAMTS17):c.*2157_*2158AG[1] rs144918924
NM_139057.4(ADAMTS17):c.*2172T>C
NM_139057.4(ADAMTS17):c.*2183G>A rs148789222
NM_139057.4(ADAMTS17):c.*2185G>C
NM_139057.4(ADAMTS17):c.*2186T>C
NM_139057.4(ADAMTS17):c.*2193G>C rs886050955
NM_139057.4(ADAMTS17):c.*2196C>T
NM_139057.4(ADAMTS17):c.*221G>A
NM_139057.4(ADAMTS17):c.*2220G>A
NM_139057.4(ADAMTS17):c.*2227G>A rs8041553
NM_139057.4(ADAMTS17):c.*2228G>C
NM_139057.4(ADAMTS17):c.*2234G>C
NM_139057.4(ADAMTS17):c.*2275A>G
NM_139057.4(ADAMTS17):c.*2279G>A rs529729790
NM_139057.4(ADAMTS17):c.*2283A>G rs8025962
NM_139057.4(ADAMTS17):c.*2289A>G
NM_139057.4(ADAMTS17):c.*2290C>T
NM_139057.4(ADAMTS17):c.*2291G>A rs750700990
NM_139057.4(ADAMTS17):c.*2292C>T
NM_139057.4(ADAMTS17):c.*2305T>C
NM_139057.4(ADAMTS17):c.*2313T>C rs562633764
NM_139057.4(ADAMTS17):c.*2316C>G rs886050954
NM_139057.4(ADAMTS17):c.*2324G>A rs8041395
NM_139057.4(ADAMTS17):c.*2329T>C rs886050953
NM_139057.4(ADAMTS17):c.*2352C>G rs138578029
NM_139057.4(ADAMTS17):c.*2354C>G rs8036076
NM_139057.4(ADAMTS17):c.*2354C>T rs8036076
NM_139057.4(ADAMTS17):c.*2355G>C rs564194386
NM_139057.4(ADAMTS17):c.*2379C>T rs182417427
NM_139057.4(ADAMTS17):c.*2422C>T
NM_139057.4(ADAMTS17):c.*2425G>A
NM_139057.4(ADAMTS17):c.*2429G>A rs886050952
NM_139057.4(ADAMTS17):c.*2453C>T
NM_139057.4(ADAMTS17):c.*2472C>G
NM_139057.4(ADAMTS17):c.*2472C>T rs138099553
NM_139057.4(ADAMTS17):c.*2479C>G rs540696412
NM_139057.4(ADAMTS17):c.*2480G>A
NM_139057.4(ADAMTS17):c.*2501C>T
NM_139057.4(ADAMTS17):c.*2511A>G rs145561763
NM_139057.4(ADAMTS17):c.*2528T>C rs8037666
NM_139057.4(ADAMTS17):c.*2532G>A rs886050951
NM_139057.4(ADAMTS17):c.*2541A>G rs8041971
NM_139057.4(ADAMTS17):c.*2560T>C rs10468183
NM_139057.4(ADAMTS17):c.*2578G>A rs183671964
NM_139057.4(ADAMTS17):c.*2598T>C rs754478048
NM_139057.4(ADAMTS17):c.*2600C>T
NM_139057.4(ADAMTS17):c.*2605G>C rs191759654
NM_139057.4(ADAMTS17):c.*260C>T
NM_139057.4(ADAMTS17):c.*2616G>A
NM_139057.4(ADAMTS17):c.*261G>A rs886050970
NM_139057.4(ADAMTS17):c.*2626_*2628del rs543559051
NM_139057.4(ADAMTS17):c.*2637C>G
NM_139057.4(ADAMTS17):c.*2645C>T rs114391483
NM_139057.4(ADAMTS17):c.*2652A>T
NM_139057.4(ADAMTS17):c.*2678T>G
NM_139057.4(ADAMTS17):c.*2690G>A rs566216613
NM_139057.4(ADAMTS17):c.*2701G>C rs13329612
NM_139057.4(ADAMTS17):c.*2722G>A rs116467016
NM_139057.4(ADAMTS17):c.*2738G>C
NM_139057.4(ADAMTS17):c.*2747T>G
NM_139057.4(ADAMTS17):c.*2790C>G
NM_139057.4(ADAMTS17):c.*2878C>T rs886050950
NM_139057.4(ADAMTS17):c.*290C>A
NM_139057.4(ADAMTS17):c.*2934G>T
NM_139057.4(ADAMTS17):c.*293G>A rs886050969
NM_139057.4(ADAMTS17):c.*316T>C rs2581345
NM_139057.4(ADAMTS17):c.*359A>G rs150430121
NM_139057.4(ADAMTS17):c.*376T>G
NM_139057.4(ADAMTS17):c.*399_*412dup rs71151926
NM_139057.4(ADAMTS17):c.*419C>T
NM_139057.4(ADAMTS17):c.*420G>A rs556966662
NM_139057.4(ADAMTS17):c.*421G>C rs886050968
NM_139057.4(ADAMTS17):c.*425C>A rs574877864
NM_139057.4(ADAMTS17):c.*429A>C rs2581346
NM_139057.4(ADAMTS17):c.*439G>A rs140255903
NM_139057.4(ADAMTS17):c.*464C>T rs148258011
NM_139057.4(ADAMTS17):c.*465G>A rs886050967
NM_139057.4(ADAMTS17):c.*46C>G rs2581340
NM_139057.4(ADAMTS17):c.*474C>T
NM_139057.4(ADAMTS17):c.*481G>A
NM_139057.4(ADAMTS17):c.*486G>A rs117381111
NM_139057.4(ADAMTS17):c.*498A>C rs2573651
NM_139057.4(ADAMTS17):c.*498A>T
NM_139057.4(ADAMTS17):c.*4G>A
NM_139057.4(ADAMTS17):c.*510C>T rs2573650
NM_139057.4(ADAMTS17):c.*519T>C rs886050966
NM_139057.4(ADAMTS17):c.*544G>A rs2581348
NM_139057.4(ADAMTS17):c.*567G>A
NM_139057.4(ADAMTS17):c.*567G>C rs2573649
NM_139057.4(ADAMTS17):c.*572T>C
NM_139057.4(ADAMTS17):c.*611C>T
NM_139057.4(ADAMTS17):c.*612G>T rs574728895
NM_139057.4(ADAMTS17):c.*620T>C
NM_139057.4(ADAMTS17):c.*639G>A rs886050965
NM_139057.4(ADAMTS17):c.*671C>T rs76681073
NM_139057.4(ADAMTS17):c.*692G>C rs187035332
NM_139057.4(ADAMTS17):c.*700G>A rs60022871
NM_139057.4(ADAMTS17):c.*742C>T rs555201429
NM_139057.4(ADAMTS17):c.*743G>A rs74036641
NM_139057.4(ADAMTS17):c.*802G>A rs571008658
NM_139057.4(ADAMTS17):c.*805G>A
NM_139057.4(ADAMTS17):c.*82G>A rs3825894
NM_139057.4(ADAMTS17):c.*850C>T rs886050964
NM_139057.4(ADAMTS17):c.*856C>T rs549608045
NM_139057.4(ADAMTS17):c.*857G>A
NM_139057.4(ADAMTS17):c.*880C>T
NM_139057.4(ADAMTS17):c.*882G>C rs2581358
NM_139057.4(ADAMTS17):c.*882G>T rs2581358
NM_139057.4(ADAMTS17):c.*885A>G rs2727198
NM_139057.4(ADAMTS17):c.*900T>C rs2581359
NM_139057.4(ADAMTS17):c.*901G>A
NM_139057.4(ADAMTS17):c.*959C>T
NM_139057.4(ADAMTS17):c.*960G>A rs180868548
NM_139057.4(ADAMTS17):c.*963C>T
NM_139057.4(ADAMTS17):c.*966G>T rs886050963
NM_139057.4(ADAMTS17):c.*989G>A rs57279107
NM_139057.4(ADAMTS17):c.*99A>G
NM_139057.4(ADAMTS17):c.-19del rs150933882
NM_139057.4(ADAMTS17):c.-19dup rs150933882
NM_139057.4(ADAMTS17):c.-20G>A
NM_139057.4(ADAMTS17):c.-20G>C
NM_139057.4(ADAMTS17):c.-20G>T
NM_139057.4(ADAMTS17):c.-22G>A rs760846321
NM_139057.4(ADAMTS17):c.-37C>T
NM_139057.4(ADAMTS17):c.-4T>C rs886050984
NM_139057.4(ADAMTS17):c.-62C>A rs886050985
NM_139057.4(ADAMTS17):c.-69C>T rs534119279
NM_139057.4(ADAMTS17):c.-7G>A
NM_139057.4(ADAMTS17):c.-9C>T rs192272127
NM_139057.4(ADAMTS17):c.1008G>A (p.Val336=) rs557358714
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=) rs4965613
NM_139057.4(ADAMTS17):c.1030A>G (p.Arg344Gly)
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=) rs4369638
NM_139057.4(ADAMTS17):c.105G>A (p.Val35=)
NM_139057.4(ADAMTS17):c.1062G>A (p.Pro354=) rs145206425
NM_139057.4(ADAMTS17):c.1071T>G (p.Thr357=)
NM_139057.4(ADAMTS17):c.1075+10G>C
NM_139057.4(ADAMTS17):c.1145A>G (p.Asn382Ser) rs755587669
NM_139057.4(ADAMTS17):c.1208A>G (p.His403Arg) rs886050975
NM_139057.4(ADAMTS17):c.1220C>G (p.Ala407Gly)
NM_139057.4(ADAMTS17):c.1248G>A (p.Glu416=) rs371229459
NM_139057.4(ADAMTS17):c.1288T>C (p.Ser430Pro) rs140930935
NM_139057.4(ADAMTS17):c.1302T>C (p.Asp434=) rs559102316
NM_139057.4(ADAMTS17):c.1317C>A (p.Phe439Leu) rs147286623
NM_139057.4(ADAMTS17):c.1322A>G (p.Lys441Arg)
NM_139057.4(ADAMTS17):c.1323-11G>A
NM_139057.4(ADAMTS17):c.1323-12C>T rs770627848
NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) rs72755233
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) rs143896591
NM_139057.4(ADAMTS17):c.135C>A (p.Pro45=)
NM_139057.4(ADAMTS17):c.1385C>T (p.Pro462Leu)
NM_139057.4(ADAMTS17):c.1386G>A (p.Pro462=)
NM_139057.4(ADAMTS17):c.1398G>A (p.Pro466=) rs149252796
NM_139057.4(ADAMTS17):c.1431G>T (p.Gln477His) rs765427198
NM_139057.4(ADAMTS17):c.1445T>C (p.Met482Thr) rs28567966
NM_139057.4(ADAMTS17):c.1587G>A (p.Ala529=) rs767074176
NM_139057.4(ADAMTS17):c.1587G>C (p.Ala529=) rs767074176
NM_139057.4(ADAMTS17):c.1607C>T (p.Thr536Met)
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr) rs61754841
NM_139057.4(ADAMTS17):c.1661T>G (p.Met554Arg)
NM_139057.4(ADAMTS17):c.1682C>T (p.Thr561Met) rs140998386
NM_139057.4(ADAMTS17):c.168C>T (p.Ala56=) rs886050982
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=) rs12907333
NM_139057.4(ADAMTS17):c.1720C>T (p.Pro574Ser) rs200327256
NM_139057.4(ADAMTS17):c.1721C>T (p.Pro574Leu)
NM_139057.4(ADAMTS17):c.1748C>T (p.Pro583Leu)
NM_139057.4(ADAMTS17):c.1767T>C (p.His589=) rs148939974
NM_139057.4(ADAMTS17):c.1804C>T (p.Pro602Ser) rs756454329
NM_139057.4(ADAMTS17):c.1824G>A (p.Gln608=)
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp) rs200745301
NM_139057.4(ADAMTS17):c.1875C>T (p.Ala625=) rs34558152
NM_139057.4(ADAMTS17):c.1887C>T (p.Asp629=) rs145594305
NM_139057.4(ADAMTS17):c.1888+9A>C
NM_139057.4(ADAMTS17):c.1889-14C>T rs374520210
NM_139057.4(ADAMTS17):c.1923G>A (p.Gly641=) rs749551110
NM_139057.4(ADAMTS17):c.1947C>T (p.Ala649=)
NM_139057.4(ADAMTS17):c.1962C>T (p.Asp654=) rs61752832
NM_139057.4(ADAMTS17):c.1971C>G (p.Pro657=) rs760290195
NM_139057.4(ADAMTS17):c.1981T>C (p.Tyr661His) rs201920741
NM_139057.4(ADAMTS17):c.2004C>T (p.His668=) rs200766799
NM_139057.4(ADAMTS17):c.2017-10G>C
NM_139057.4(ADAMTS17):c.2017-3T>C
NM_139057.4(ADAMTS17):c.2040C>T (p.Ile680=) rs150431950
NM_139057.4(ADAMTS17):c.2067C>T (p.Cys689=) rs200809221
NM_139057.4(ADAMTS17):c.2109G>A (p.Lys703=) rs139059770
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=) rs4965583
NM_139057.4(ADAMTS17):c.211G>T (p.Ala71Ser)
NM_139057.4(ADAMTS17):c.2138-12C>T rs28529328
NM_139057.4(ADAMTS17):c.2138-13A>G
NM_139057.4(ADAMTS17):c.214C>A (p.Pro72Thr)
NM_139057.4(ADAMTS17):c.214C>G (p.Pro72Ala)
NM_139057.4(ADAMTS17):c.2150C>T (p.Ser717Leu) rs143817747
NM_139057.4(ADAMTS17):c.2171G>A (p.Ser724Asn) rs73474408
NM_139057.4(ADAMTS17):c.224G>T (p.Arg75Leu) rs886050981
NM_139057.4(ADAMTS17):c.228C>G (p.Pro76=) rs747636994
NM_139057.4(ADAMTS17):c.22C>T (p.Pro8Ser)
NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly) rs886050980
NM_139057.4(ADAMTS17):c.2348C>T (p.Pro783Leu)
NM_139057.4(ADAMTS17):c.2364G>A (p.Ala788=) rs146286415
NM_139057.4(ADAMTS17):c.2372A>G (p.Gln791Arg)
NM_139057.4(ADAMTS17):c.2388A>G (p.Lys796=)
NM_139057.4(ADAMTS17):c.2431G>C (p.Gly811Arg)
NM_139057.4(ADAMTS17):c.2462G>A (p.Arg821His)
NM_139057.4(ADAMTS17):c.2472C>T (p.Ile824=) rs61752831
NM_139057.4(ADAMTS17):c.2499G>A (p.Lys833=) rs117133620
NM_139057.4(ADAMTS17):c.2518G>A (p.Asp840Asn)
NM_139057.4(ADAMTS17):c.2590C>T (p.Arg864Trp) rs61757475
NM_139057.4(ADAMTS17):c.2591+14T>G
NM_139057.4(ADAMTS17):c.2591+6A>G rs8028251
NM_139057.4(ADAMTS17):c.2592-10C>T rs751012843
NM_139057.4(ADAMTS17):c.2592-9G>A rs373353462
NM_139057.4(ADAMTS17):c.2592-9G>T
NM_139057.4(ADAMTS17):c.2637A>G (p.Lys879=) rs563938783
NM_139057.4(ADAMTS17):c.2693T>C (p.Val898Ala) rs202099735
NM_139057.4(ADAMTS17):c.2700G>A (p.Thr900=) rs149373184
NM_139057.4(ADAMTS17):c.2706C>T (p.Pro902=)
NM_139057.4(ADAMTS17):c.2731G>C (p.Ala911Pro) rs886050974
NM_139057.4(ADAMTS17):c.2733G>A (p.Ala911=)
NM_139057.4(ADAMTS17):c.2799C>T (p.Cys933=) rs146651611
NM_139057.4(ADAMTS17):c.2865C>T (p.Cys955=)
NM_139057.4(ADAMTS17):c.2877G>A (p.Thr959=)
NM_139057.4(ADAMTS17):c.2883G>A (p.Pro961=) rs550282581
NM_139057.4(ADAMTS17):c.2901C>T (p.Cys967=) rs140384823
NM_139057.4(ADAMTS17):c.2923G>A (p.Glu975Lys) rs775321973
NM_139057.4(ADAMTS17):c.2948C>T (p.Thr983Met)
NM_139057.4(ADAMTS17):c.2950-6C>T
NM_139057.4(ADAMTS17):c.3015G>A (p.Gly1005=)
NM_139057.4(ADAMTS17):c.3020A>T (p.His1007Leu)
NM_139057.4(ADAMTS17):c.3028G>A (p.Glu1010Lys) rs367651794
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379
NM_139057.4(ADAMTS17):c.3068G>A (p.Cys1023Tyr) rs144662002
NM_139057.4(ADAMTS17):c.307C>T (p.Leu103=)
NM_139057.4(ADAMTS17):c.3099C>T (p.Asn1033=)
NM_139057.4(ADAMTS17):c.3111C>A (p.Ile1037=) rs886050973
NM_139057.4(ADAMTS17):c.3121C>T (p.Arg1041Cys)
NM_139057.4(ADAMTS17):c.3127+12C>T rs200475413
NM_139057.4(ADAMTS17):c.3128-12C>T rs182634994
NM_139057.4(ADAMTS17):c.3128-6C>T
NM_139057.4(ADAMTS17):c.3138C>T (p.Thr1046=) rs112214202
NM_139057.4(ADAMTS17):c.3144A>G (p.Lys1048=) rs886050972
NM_139057.4(ADAMTS17):c.3164C>T (p.Thr1055Met)
NM_139057.4(ADAMTS17):c.3165G>C (p.Thr1055=) rs141373128
NM_139057.4(ADAMTS17):c.3219C>T (p.Tyr1073=) rs78682885
NM_139057.4(ADAMTS17):c.3223C>T (p.Arg1075Cys)
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser) rs2573652
NM_139057.4(ADAMTS17):c.3285G>A (p.Ser1095=) rs144817994
NM_139057.4(ADAMTS17):c.388C>G (p.Arg130Gly) rs886050979
NM_139057.4(ADAMTS17):c.405C>G (p.Pro135=)
NM_139057.4(ADAMTS17):c.441C>G (p.Ala147=) rs375900400
NM_139057.4(ADAMTS17):c.520A>C (p.Ser174Arg) rs761591792
NM_139057.4(ADAMTS17):c.542G>A (p.Arg181Lys)
NM_139057.4(ADAMTS17):c.548A>G (p.Lys183Arg)
NM_139057.4(ADAMTS17):c.552G>C (p.Trp184Cys) rs754980579
NM_139057.4(ADAMTS17):c.590C>T (p.Pro197Leu)
NM_139057.4(ADAMTS17):c.616+7C>T rs886050978
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu) rs7496668
NM_139057.4(ADAMTS17):c.709C>T (p.Leu237=) rs780909666
NM_139057.4(ADAMTS17):c.727G>A (p.Asp243Asn)
NM_139057.4(ADAMTS17):c.72G>A (p.Pro24=)
NM_139057.4(ADAMTS17):c.751G>A (p.Glu251Lys) rs200673902
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=) rs7496640
NM_139057.4(ADAMTS17):c.777C>T (p.Thr259=) rs377212581
NM_139057.4(ADAMTS17):c.789+15G>A
NM_139057.4(ADAMTS17):c.789+8C>T rs7496614
NM_139057.4(ADAMTS17):c.789+9G>A rs377670601
NM_139057.4(ADAMTS17):c.79+3A>C
NM_139057.4(ADAMTS17):c.790-6T>C rs886050977
NM_139057.4(ADAMTS17):c.80-10C>G rs886050983
NM_139057.4(ADAMTS17):c.867A>G (p.Gln289=) rs886050976
NM_139057.4(ADAMTS17):c.903G>A (p.Glu301=)
NM_139057.4(ADAMTS17):c.944A>T (p.Tyr315Phe)
NM_139057.4(ADAMTS17):c.998C>T (p.Pro333Leu) rs771992023
NM_182760.4(SUMF1):c.*10A>G rs35083095
NM_182760.4(SUMF1):c.*11A>T rs2633851
NM_182760.4(SUMF1):c.*140C>T
NM_182760.4(SUMF1):c.*150G>A
NM_182760.4(SUMF1):c.*152C>G rs560350613
NM_182760.4(SUMF1):c.*189G>A
NM_182760.4(SUMF1):c.*210C>T
NM_182760.4(SUMF1):c.*214A>G rs2819562
NM_182760.4(SUMF1):c.*218T>C rs532640038
NM_182760.4(SUMF1):c.*279C>T
NM_182760.4(SUMF1):c.*291G>A rs4685744
NM_182760.4(SUMF1):c.*292T>A rs74979662
NM_182760.4(SUMF1):c.*297C>T
NM_182760.4(SUMF1):c.*305C>G
NM_182760.4(SUMF1):c.*396C>G
NM_182760.4(SUMF1):c.*398C>T rs116909525
NM_182760.4(SUMF1):c.*445A>G rs114640216
NM_182760.4(SUMF1):c.*460_*463del rs71873849
NM_182760.4(SUMF1):c.*463G>T
NM_182760.4(SUMF1):c.*471T>G rs2259818
NM_182760.4(SUMF1):c.*496del rs886058516
NM_182760.4(SUMF1):c.*518T>C rs17040504
NM_182760.4(SUMF1):c.*548T>C rs185598903
NM_182760.4(SUMF1):c.*552T>G rs10514655
NM_182760.4(SUMF1):c.*568G>A rs73022033
NM_182760.4(SUMF1):c.*568G>C
NM_182760.4(SUMF1):c.*578C>G rs886058515
NM_182760.4(SUMF1):c.*61T>C rs2819561
NM_182760.4(SUMF1):c.*639T>C rs886058514
NM_182760.4(SUMF1):c.*675A>C rs14275
NM_182760.4(SUMF1):c.*67A>T
NM_182760.4(SUMF1):c.*692A>G rs886058513
NM_182760.4(SUMF1):c.*805C>T rs79031951
NM_182760.4(SUMF1):c.*809C>T rs886058512
NM_182760.4(SUMF1):c.*819G>A rs886058511
NM_182760.4(SUMF1):c.*820C>T
NM_182760.4(SUMF1):c.*821G>A
NM_182760.4(SUMF1):c.*828G>A
NM_182760.4(SUMF1):c.*836C>G rs140229372
NM_182760.4(SUMF1):c.*874C>T rs145484019
NM_182760.4(SUMF1):c.*917G>T rs116661242
NM_182760.4(SUMF1):c.*92A>G
NM_182760.4(SUMF1):c.*948C>G
NM_182760.4(SUMF1):c.*948C>T
NM_182760.4(SUMF1):c.*949G>A rs575414528
NM_182760.4(SUMF1):c.*953C>T
NM_182760.4(SUMF1):c.*95C>T
NM_182760.4(SUMF1):c.*976A>G rs886058510
NM_182760.4(SUMF1):c.*982G>A
NM_182760.4(SUMF1):c.-9C>T rs148200251
NM_182760.4(SUMF1):c.1014+12C>T
NM_182760.4(SUMF1):c.1015-8C>T rs886058517
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=) rs140751492
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852
NM_182760.4(SUMF1):c.16C>T (p.Leu6=) rs774160105
NM_182760.4(SUMF1):c.177C>T (p.Gly59=) rs774739457
NM_182760.4(SUMF1):c.179C>T (p.Ala60Val) rs886058521
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn) rs2819590
NM_182760.4(SUMF1):c.251G>A (p.Arg84Gln) rs762094231
NM_182760.4(SUMF1):c.263A>C (p.His88Pro) rs768876680
NM_182760.4(SUMF1):c.271-7A>G rs371283922
NM_182760.4(SUMF1):c.306C>T (p.Gly102=)
NM_182760.4(SUMF1):c.30T>C (p.Cys10=)
NM_182760.4(SUMF1):c.434A>G (p.Tyr145Cys) rs886058520
NM_182760.4(SUMF1):c.447T>C (p.Ala149=)
NM_182760.4(SUMF1):c.45G>A (p.Glu15=)
NM_182760.4(SUMF1):c.464C>G (p.Ser155Cys)
NM_182760.4(SUMF1):c.483G>T (p.Met161Ile)
NM_182760.4(SUMF1):c.491A>T (p.Glu164Val) rs886058519
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361
NM_182760.4(SUMF1):c.602+12C>T rs200971871
NM_182760.4(SUMF1):c.602+13C>T rs80204284
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829
NM_182760.4(SUMF1):c.642G>A (p.Ala214=) rs141017221
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233
NM_182760.4(SUMF1):c.726-14G>T
NM_182760.4(SUMF1):c.77C>T (p.Ser26Leu) rs759963054
NM_182760.4(SUMF1):c.802A>G (p.Thr268Ala)
NM_182760.4(SUMF1):c.841-14G>A rs9852367
NM_182760.4(SUMF1):c.875A>G (p.Tyr292Cys) rs148841895
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187
NM_182760.4(SUMF1):c.932C>T (p.Ser311Phe)
NM_182760.4(SUMF1):c.955-6C>G rs886058518
NM_182760.4(SUMF1):c.95C>T (p.Ala32Val) rs374677940

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