NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)
|
rs41282065
|
0.00267
|
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)
|
rs61495246
|
0.00107
|
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)
|
rs72658163
|
0.00077
|
NM_004252.5(NHERF1):c.657C>G (p.Ile219Met)
|
rs147104235
|
0.00047
|
NM_031471.6(FERMT3):c.608C>T (p.Pro203Leu)
|
rs78534353
|
0.00036
|
NM_006019.4(TCIRG1):c.1674-1G>A
|
rs139617644
|
0.00019
|
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter)
|
rs371263807
|
0.00010
|
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)
|
rs762780994
|
0.00008
|
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)
|
rs140561784
|
0.00008
|
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)
|
rs137853150
|
0.00007
|
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu)
|
rs137853151
|
0.00006
|
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln)
|
rs770821909
|
0.00005
|
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile)
|
rs118204008
|
0.00004
|
NM_001177316.2(SLC34A3):c.304+2T>C
|
rs201293634
|
0.00004
|
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn)
|
rs369264588
|
0.00004
|
NM_006019.4(TCIRG1):c.2236+1G>A
|
rs1475338876
|
0.00004
|
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp)
|
rs145903120
|
0.00004
|
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
|
rs765648513
|
0.00004
|
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp)
|
rs145611597
|
0.00004
|
NM_006019.4(TCIRG1):c.1554+2T>A
|
rs761918801
|
0.00003
|
NM_000396.4(CTSK):c.121-1G>A
|
rs587663163
|
0.00002
|
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr)
|
rs199919553
|
0.00002
|
NM_006019.4(TCIRG1):c.1066G>A (p.Asp356Asn)
|
rs372701023
|
0.00002
|
NM_006019.4(TCIRG1):c.117+1G>A
|
rs377303800
|
0.00002
|
NM_006019.4(TCIRG1):c.1555-2A>C
|
rs758977199
|
0.00002
|
NM_207122.2(EXT2):c.1043A>G (p.Tyr348Cys)
|
rs758785296
|
0.00002
|
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)
|
rs772690312
|
0.00002
|
NM_000067.3(CA2):c.311G>T (p.Gly104Val)
|
rs760867064
|
0.00001
|
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp)
|
rs371277428
|
0.00001
|
NM_000396.4(CTSK):c.364C>T (p.Arg122Ter)
|
rs759107967
|
0.00001
|
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg)
|
rs74315302
|
0.00001
|
NM_000396.4(CTSK):c.894G>A (p.Trp298Ter)
|
rs1237746431
|
0.00001
|
NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)
|
rs1571122183
|
0.00001
|
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro)
|
rs29001685
|
0.00001
|
NM_001287.6(CLCN7):c.739-18G>A
|
rs371893553
|
0.00001
|
NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys)
|
rs184945579
|
0.00001
|
NM_003839.4(TNFRSF11A):c.866C>T (p.Thr289Ile)
|
rs749136654
|
0.00001
|
NM_006019.4(TCIRG1):c.-5+1G>T
|
rs917505107
|
0.00001
|
NM_006019.4(TCIRG1):c.1021-1G>T
|
rs1590807544
|
0.00001
|
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter)
|
rs1489993984
|
0.00001
|
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)
|
rs777785526
|
0.00001
|
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)
|
rs200851583
|
0.00001
|
NM_006019.4(TCIRG1):c.196+5G>A
|
rs1470999303
|
0.00001
|
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)
|
rs1338631330
|
0.00001
|
NM_006019.4(TCIRG1):c.630G>A (p.Thr210=)
|
rs1293760338
|
0.00001
|
NM_006019.4(TCIRG1):c.787C>T (p.Gln263Ter)
|
rs1003722483
|
0.00001
|
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)
|
rs749361897
|
0.00001
|
NM_031471.6(FERMT3):c.568C>G (p.Gln190Glu)
|
rs777178622
|
0.00001
|
NM_207122.2(EXT2):c.1305+2T>C
|
rs202153611
|
0.00001
|
NM_207122.2(EXT2):c.1515C>G (p.Ile505Met)
|
rs145279140
|
0.00001
|
NM_207122.2(EXT2):c.1712A>G (p.His571Arg)
|
rs150392363
|
0.00001
|
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln)
|
rs773705067
|
0.00001
|
NM_207122.2(EXT2):c.266C>T (p.Thr89Met)
|
rs143048174
|
0.00001
|
NM_207122.2(EXT2):c.415G>A (p.Asp139Asn)
|
rs1038984851
|
0.00001
|
NM_207122.2(EXT2):c.511G>A (p.Ala171Thr)
|
rs1326355711
|
0.00001
|
NM_207122.2(EXT2):c.640G>A (p.Gly214Ser)
|
rs550761834
|
0.00001
|
NM_207122.2(EXT2):c.656C>T (p.Thr219Met)
|
rs202208526
|
0.00001
|
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp)
|
rs201062014
|
0.00001
|
NM_207122.2(EXT2):c.67C>T (p.Arg23Ter)
|
rs754533434
|
0.00001
|
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln)
|
rs762292898
|
0.00001
|
GRCh37/hg19 Xq23(chrX:113097589-114931342)
|
|
|
NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del
|
|
|
NM_000067.3(CA2):c.232+1G>A
|
rs573750741
|
|
NM_000067.3(CA2):c.630_641delinsCACA (p.Leu211fs)
|
|
|
NM_000088.4(COL1A1):c.3122C>T (p.Pro1041Leu)
|
rs1906769403
|
|
NM_000088.4(COL1A1):c.3207+3A>G
|
rs1906755287
|
|
NM_000088.4(COL1A1):c.3398G>A (p.Gly1133Glu)
|
rs1906659084
|
|
NM_000127.3(EXT1):c.197T>C (p.Val66Ala)
|
rs1242925512
|
|
NM_000127.3(EXT1):c.963-2A>G
|
rs1554580162
|
|
NM_000396.4(CTSK):c.119del (p.Lys40fs)
|
|
|
NM_000396.4(CTSK):c.158dup (p.Asn53fs)
|
rs764168526
|
|
NM_000396.4(CTSK):c.169_170del (p.Ile57fs)
|
|
|
NM_000396.4(CTSK):c.190_200del (p.Ala64fs)
|
rs760640027
|
|
NM_000396.4(CTSK):c.236G>A (p.Gly79Glu)
|
rs74315305
|
|
NM_000396.4(CTSK):c.239_243+1del
|
|
|
NM_000396.4(CTSK):c.244-29A>G
|
rs1654085401
|
|
NM_000396.4(CTSK):c.26T>C (p.Leu9Pro)
|
rs1057517252
|
|
NM_000396.4(CTSK):c.395dup (p.Asn132fs)
|
rs1057516725
|
|
NM_000396.4(CTSK):c.419G>A (p.Trp140Ter)
|
rs2101951671
|
|
NM_000396.4(CTSK):c.581del (p.Gly194fs)
|
|
|
NM_000396.4(CTSK):c.590_591del (p.Asp196_Ser197insTer)
|
|
|
NM_000396.4(CTSK):c.679_680insAA (p.Ile227fs)
|
rs758450569
|
|
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)
|
rs74315303
|
|
NM_000396.4(CTSK):c.724_731del (p.Val242fs)
|
|
|
NM_000396.4(CTSK):c.737_738del (p.Ser246fs)
|
|
|
NM_000396.4(CTSK):c.746T>A (p.Ile249Asn)
|
rs199919553
|
|
NM_000396.4(CTSK):c.78G>A (p.Trp26Ter)
|
|
|
NM_000396.4(CTSK):c.818del (p.Asn273fs)
|
|
|
NM_000396.4(CTSK):c.830C>T (p.Ala277Val)
|
rs74315304
|
|
NM_000396.4(CTSK):c.947_948del (p.Asn316fs)
|
|
|
NM_000396.4(CTSK):c.9del (p.Leu4fs)
|
|
|
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)
|
rs137853271
|
|
NM_000444.6(PHEX):c.1966-1G>T
|
rs1064795147
|
|
NM_000444.6(PHEX):c.733-1G>C
|
rs886041223
|
|
NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro)
|
rs568165874
|
|
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)
|
rs780950819
|
|
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter)
|
rs151340626
|
|
NM_001287.6(CLCN7):c.2385_2386del (p.Gly796fs)
|
rs2142364275
|
|
NM_001287.6(CLCN7):c.436_438del (p.Ile146del)
|
|
|
NM_002335.4(LRP5):c.1384C>T (p.Arg462Ter)
|
rs1200833757
|
|
NM_002546.4(TNFRSF11B):c.97G>A (p.Glu33Lys)
|
rs202090603
|
|
NM_005032.7(PLS3):c.234_237+10del
|
rs781875935
|
|
NM_005032.7(PLS3):c.583-3C>A
|
rs2147551714
|
|
NM_006019.4(TCIRG1):c.1019C>A (p.Ser340Ter)
|
|
|
NM_006019.4(TCIRG1):c.1020+1G>T
|
|
|
NM_006019.4(TCIRG1):c.1037_1040dup (p.Val348fs)
|
|
|
NM_006019.4(TCIRG1):c.1080_1081del (p.Leu361fs)
|
|
|
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter)
|
rs776436008
|
|
NM_006019.4(TCIRG1):c.1118del (p.Gly373fs)
|
rs1269558164
|
|
NM_006019.4(TCIRG1):c.1128del (p.Asp376fs)
|
|
|
NM_006019.4(TCIRG1):c.117+4A>C
|
rs751881962
|
|
NM_006019.4(TCIRG1):c.117+4A>T
|
rs751881962
|
|
NM_006019.4(TCIRG1):c.117+5G>A
|
rs2134430922
|
|
NM_006019.4(TCIRG1):c.1230del (p.Leu411fs)
|
rs2134454279
|
|
NM_006019.4(TCIRG1):c.1306-2A>T
|
rs1855570841
|
|
NM_006019.4(TCIRG1):c.1348_1376dup (p.Phe459fs)
|
rs747511049
|
|
NM_006019.4(TCIRG1):c.1378del (p.Ile460fs)
|
|
|
NM_006019.4(TCIRG1):c.1387G>T (p.Glu463Ter)
|
|
|
NM_006019.4(TCIRG1):c.1421C>T (p.Ser474Leu)
|
rs199914625
|
|
NM_006019.4(TCIRG1):c.1460G>A (p.Trp487Ter)
|
|
|
NM_006019.4(TCIRG1):c.1480C>T (p.Gln494Ter)
|
|
|
NM_006019.4(TCIRG1):c.1536C>A (p.Tyr512Ter)
|
|
|
NM_006019.4(TCIRG1):c.1554+1G>A
|
|
|
NM_006019.4(TCIRG1):c.1554+1G>T
|
rs1439348400
|
|
NM_006019.4(TCIRG1):c.1664_1667dup (p.His557fs)
|
|
|
NM_006019.4(TCIRG1):c.1673+2T>C
|
|
|
NM_006019.4(TCIRG1):c.1674-1G>C
|
|
|
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)
|
rs1855655612
|
|
NM_006019.4(TCIRG1):c.1782T>A (p.Cys594Ter)
|
|
|
NM_006019.4(TCIRG1):c.1887+1G>A
|
|
|
NM_006019.4(TCIRG1):c.1887+1G>C
|
rs1554999205
|
|
NM_006019.4(TCIRG1):c.1888-1G>T
|
rs2134462513
|
|
NM_006019.4(TCIRG1):c.1891del (p.Val631fs)
|
rs1300297240
|
|
NM_006019.4(TCIRG1):c.196+1G>T
|
rs2134432498
|
|
NM_006019.4(TCIRG1):c.1967del (p.Leu656fs)
|
|
|
NM_006019.4(TCIRG1):c.2088dup (p.Gly697fs)
|
|
|
NM_006019.4(TCIRG1):c.2146C>T (p.Gln716Ter)
|
|
|
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del)
|
rs780311417
|
|
NM_006019.4(TCIRG1):c.2196del (p.Ser733fs)
|
|
|
NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs)
|
rs1565164499
|
|
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter)
|
rs748659068
|
|
NM_006019.4(TCIRG1):c.2321del (p.Val774fs)
|
|
|
NM_006019.4(TCIRG1):c.2324C>G (p.Pro775Arg)
|
|
|
NM_006019.4(TCIRG1):c.2329_2387dup (p.Ala796_Phe797insLeuProProLeuProTer)
|
|
|
NM_006019.4(TCIRG1):c.2376_2379del (p.Glu792fs)
|
|
|
NM_006019.4(TCIRG1):c.2377G>C (p.Gly793Arg)
|
|
|
NM_006019.4(TCIRG1):c.2383_2384del (p.Ala796fs)
|
rs1346704603
|
|
NM_006019.4(TCIRG1):c.2414+1G>T
|
|
|
NM_006019.4(TCIRG1):c.2415-2A>G
|
rs1555000376
|
|
NM_006019.4(TCIRG1):c.242del (p.Pro81fs)
|
rs1208311085
|
|
NM_006019.4(TCIRG1):c.245del (p.Pro82fs)
|
|
|
NM_006019.4(TCIRG1):c.304del (p.Glu102fs)
|
|
|
NM_006019.4(TCIRG1):c.361C>T (p.Gln121Ter)
|
|
|
NM_006019.4(TCIRG1):c.376C>T (p.Gln126Ter)
|
rs903939170
|
|
NM_006019.4(TCIRG1):c.390del (p.Val131fs)
|
|
|
NM_006019.4(TCIRG1):c.418-1G>C
|
|
|
NM_006019.4(TCIRG1):c.418-21A>G
|
rs1855249165
|
|
NM_006019.4(TCIRG1):c.446C>G (p.Ser149Ter)
|
|
|
NM_006019.4(TCIRG1):c.455_457delinsGG (p.Thr152fs)
|
|
|
NM_006019.4(TCIRG1):c.503+5G>A
|
|
|
NM_006019.4(TCIRG1):c.504-6C>A
|
rs1028394725
|
|
NM_006019.4(TCIRG1):c.507_513del (p.Phe169fs)
|
|
|
NM_006019.4(TCIRG1):c.523G>T (p.Glu175Ter)
|
rs2134437954
|
|
NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs)
|
rs1554995522
|
|
NM_006019.4(TCIRG1):c.630+2T>C
|
rs1392364437
|
|
NM_006019.4(TCIRG1):c.647G>A (p.Trp216Ter)
|
|
|
NM_006019.4(TCIRG1):c.745C>T (p.Gln249Ter)
|
|
|
NM_006019.4(TCIRG1):c.772C>T (p.Gln258Ter)
|
|
|
NM_006019.4(TCIRG1):c.797del (p.Glu266fs)
|
rs1431956318
|
|
NM_006019.4(TCIRG1):c.807+1G>A
|
|
|
NM_006019.4(TCIRG1):c.807+1G>T
|
rs1458295257
|
|
NM_006019.4(TCIRG1):c.808-2A>C
|
|
|
NM_006019.4(TCIRG1):c.824_825del (p.Glu275fs)
|
rs1182235762
|
|
NM_006019.4(TCIRG1):c.898A>T (p.Lys300Ter)
|
|
|
NM_006019.4(TCIRG1):c.907dup (p.Tyr303fs)
|
rs1855347940
|
|
NM_006019.4(TCIRG1):c.968G>A (p.Trp323Ter)
|
|
|
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs)
|
rs1565156743
|
|
NM_152424.4(AMER1):c.1305C>G (p.Gly435=)
|
rs761740157
|
|
NM_152424.4(AMER1):c.1575_1590del (p.Tyr526fs)
|
|
|
NM_152424.4(AMER1):c.2363G>A (p.Cys788Tyr)
|
rs1269339307
|
|
NM_152424.4(AMER1):c.3328T>A (p.Ser1110Thr)
|
rs1930205301
|
|
NM_152424.4(AMER1):c.71C>T (p.Thr24Ile)
|
rs1930297677
|
|
NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)
|
|
|
NM_207122.2(EXT2):c.1018G>A (p.Val340Ile)
|
|
|
NM_207122.2(EXT2):c.1072T>C (p.Trp358Arg)
|
|
|
NM_207122.2(EXT2):c.1145A>G (p.Gln382Arg)
|
|
|
NM_207122.2(EXT2):c.1223T>C (p.Leu408Pro)
|
|
|
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly)
|
rs1279920600
|
|
NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)
|
|
|
NM_207122.2(EXT2):c.1330C>T (p.Leu444Phe)
|
|
|
NM_207122.2(EXT2):c.140C>T (p.Pro47Leu)
|
|
|
NM_207122.2(EXT2):c.1411C>T (p.Arg471Trp)
|
|
|
NM_207122.2(EXT2):c.1448C>T (p.Ser483Phe)
|
|
|
NM_207122.2(EXT2):c.1454T>C (p.Leu485Pro)
|
|
|
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)
|
|
|
NM_207122.2(EXT2):c.1462G>T (p.Val488Phe)
|
|
|
NM_207122.2(EXT2):c.148A>G (p.Ile50Val)
|
|
|
NM_207122.2(EXT2):c.1496-1G>C
|
|
|
NM_207122.2(EXT2):c.1522C>T (p.Pro508Ser)
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NM_207122.2(EXT2):c.1534del (p.Val511_Val512insTer)
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NM_207122.2(EXT2):c.1582G>A (p.Glu528Lys)
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NM_207122.2(EXT2):c.1662+1G>C
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NM_207122.2(EXT2):c.1668G>A (p.Trp556Ter)
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NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)
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NM_207122.2(EXT2):c.1712A>C (p.His571Pro)
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NM_207122.2(EXT2):c.1733del (p.Asn578fs)
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NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)
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NM_207122.2(EXT2):c.1802A>C (p.His601Pro)
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NM_207122.2(EXT2):c.1806+3A>C
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NM_207122.2(EXT2):c.182G>T (p.Arg61Leu)
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NM_207122.2(EXT2):c.1835T>C (p.Met612Thr)
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NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)
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NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)
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NM_207122.2(EXT2):c.190C>T (p.Arg64Cys)
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NM_207122.2(EXT2):c.1924G>A (p.Ala642Thr)
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NM_207122.2(EXT2):c.2000A>G (p.Gln667Arg)
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NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)
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NM_207122.2(EXT2):c.220G>A (p.Asp74Asn)
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NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)
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NM_207122.2(EXT2):c.281A>G (p.Tyr94Cys)
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NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)
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NM_207122.2(EXT2):c.292T>C (p.Phe98Leu)
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NM_207122.2(EXT2):c.376A>G (p.Ile126Val)
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NM_207122.2(EXT2):c.37G>A (p.Ala13Thr)
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rs1389288265
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NM_207122.2(EXT2):c.394G>C (p.Glu132Gln)
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rs1954086080
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NM_207122.2(EXT2):c.446G>A (p.Arg149Gln)
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NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr)
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rs1954089713
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NM_207122.2(EXT2):c.50G>A (p.Arg17Lys)
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rs1240693088
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NM_207122.2(EXT2):c.545G>A (p.Arg182Gln)
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rs563383543
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NM_207122.2(EXT2):c.593A>C (p.Asp198Ala)
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NM_207122.2(EXT2):c.701G>T (p.Ser234Ile)
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NM_207122.2(EXT2):c.785A>G (p.His262Arg)
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rs2135014871
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NM_207122.2(EXT2):c.830G>C (p.Gly277Ala)
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NM_207122.2(EXT2):c.899_910dup (p.His303_Gln304insArgHisLysHis)
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NM_207122.2(EXT2):c.919G>C (p.Asp307His)
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