NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn)
|
rs143907628
|
0.00049
|
NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp)
|
rs145586576
|
0.00025
|
NM_024312.5(GNPTAB):c.2715C>T (p.Asp905=)
|
rs374249911
|
0.00011
|
NM_024312.5(GNPTAB):c.3158T>C (p.Met1053Thr)
|
rs150160103
|
0.00010
|
NM_024312.5(GNPTAB):c.3700G>A (p.Ala1234Thr)
|
rs373314316
|
0.00010
|
NM_024312.5(GNPTAB):c.1283A>G (p.Lys428Arg)
|
rs145281185
|
0.00009
|
NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg)
|
rs192687061
|
0.00009
|
NM_024312.5(GNPTAB):c.1960A>G (p.Ser654Gly)
|
rs151209875
|
0.00008
|
NM_024312.5(GNPTAB):c.2705A>G (p.Asp902Gly)
|
rs375156660
|
0.00007
|
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr)
|
rs149390820
|
0.00006
|
NM_024312.5(GNPTAB):c.1778A>T (p.Asn593Ile)
|
rs188192351
|
0.00006
|
NM_024312.5(GNPTAB):c.1885A>G (p.Ile629Val)
|
rs374265672
|
0.00006
|
NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu)
|
rs140656599
|
0.00006
|
NM_024312.5(GNPTAB):c.793A>G (p.Ser265Gly)
|
rs779150416
|
0.00006
|
NM_024312.5(GNPTAB):c.203G>A (p.Arg68Gln)
|
rs145725972
|
0.00004
|
NM_024312.5(GNPTAB):c.1030C>T (p.Arg344Trp)
|
rs1480305030
|
0.00003
|
NM_024312.5(GNPTAB):c.1124G>A (p.Arg375Gln)
|
rs745438711
|
0.00003
|
NM_024312.5(GNPTAB):c.1801A>G (p.Ile601Val)
|
rs1406478775
|
0.00003
|
NM_024312.5(GNPTAB):c.580G>A (p.Ala194Thr)
|
rs767422341
|
0.00003
|
NM_024312.5(GNPTAB):c.772T>C (p.Leu258=)
|
rs1042427154
|
0.00003
|
NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu)
|
rs142025274
|
0.00002
|
NM_024312.5(GNPTAB):c.1856A>G (p.Asn619Ser)
|
rs746584582
|
0.00002
|
NM_024312.5(GNPTAB):c.512C>T (p.Ala171Val)
|
rs746860631
|
0.00002
|
NM_024312.5(GNPTAB):c.1031G>A (p.Arg344Gln)
|
rs1594219189
|
0.00001
|
NM_024312.5(GNPTAB):c.1363G>T (p.Ala455Ser)
|
rs137853822
|
0.00001
|
NM_024312.5(GNPTAB):c.1468G>A (p.Gly490Arg)
|
rs751461873
|
0.00001
|
NM_024312.5(GNPTAB):c.1570A>G (p.Asn524Asp)
|
rs749452608
|
0.00001
|
NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp)
|
rs373662553
|
0.00001
|
NM_024312.5(GNPTAB):c.1948G>A (p.Glu650Lys)
|
rs779572693
|
0.00001
|
NM_024312.5(GNPTAB):c.1985C>T (p.Ala662Val)
|
rs142172397
|
0.00001
|
NM_024312.5(GNPTAB):c.2119G>A (p.Ala707Thr)
|
rs376620571
|
0.00001
|
NM_024312.5(GNPTAB):c.215C>T (p.Pro72Leu)
|
rs755156585
|
0.00001
|
NM_024312.5(GNPTAB):c.229G>A (p.Val77Ile)
|
rs985184620
|
0.00001
|
NM_024312.5(GNPTAB):c.2419C>T (p.Pro807Ser)
|
rs745952026
|
0.00001
|
NM_024312.5(GNPTAB):c.2451A>T (p.Arg817Ser)
|
rs754852059
|
0.00001
|
NM_024312.5(GNPTAB):c.257A>C (p.Asp86Ala)
|
rs763827719
|
0.00001
|
NM_024312.5(GNPTAB):c.259C>T (p.Leu87Phe)
|
rs1868888946
|
0.00001
|
NM_024312.5(GNPTAB):c.2715+3A>G
|
rs766588869
|
0.00001
|
NM_024312.5(GNPTAB):c.272A>G (p.Lys91Arg)
|
rs752519391
|
0.00001
|
NM_024312.5(GNPTAB):c.2897T>C (p.Met966Thr)
|
rs760807924
|
0.00001
|
NM_024312.5(GNPTAB):c.3089T>C (p.Ile1030Thr)
|
rs752836561
|
0.00001
|
NM_024312.5(GNPTAB):c.3148C>A (p.Leu1050Met)
|
rs1402805700
|
0.00001
|
NM_024312.5(GNPTAB):c.3265A>T (p.Ser1089Cys)
|
rs766107961
|
0.00001
|
NM_024312.5(GNPTAB):c.3435G>A (p.Arg1145=)
|
rs1451696033
|
0.00001
|
NM_024312.5(GNPTAB):c.3525G>T (p.Met1175Ile)
|
rs772131427
|
0.00001
|
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys)
|
rs1481471124
|
0.00001
|
NM_024312.5(GNPTAB):c.396C>G (p.His132Gln)
|
rs781230173
|
0.00001
|
NM_024312.5(GNPTAB):c.422T>C (p.Leu141Pro)
|
rs1051498174
|
0.00001
|
NM_024312.5(GNPTAB):c.452T>G (p.Leu151Arg)
|
rs200015550
|
0.00001
|
NM_024312.5(GNPTAB):c.578A>G (p.Asp193Gly)
|
rs935456185
|
0.00001
|
NM_024312.5(GNPTAB):c.609C>G (p.Ser203Arg)
|
rs529994474
|
0.00001
|
NM_024312.5(GNPTAB):c.64G>A (p.Val22Met)
|
rs1448327145
|
0.00001
|
NM_024312.5(GNPTAB):c.794G>T (p.Ser265Ile)
|
rs946939427
|
0.00001
|
NM_024312.5(GNPTAB):c.872A>G (p.Asp291Gly)
|
rs775153910
|
0.00001
|
NM_024312.5(GNPTAB):c.934-14A>G
|
rs766980401
|
0.00001
|
NM_024312.5(GNPTAB):c.961A>G (p.Ser321Gly)
|
rs137853824
|
0.00001
|
NC_000012.11:g.(?_102140922)_(102224473_?)dup
|
|
|
NC_000012.11:g.(?_102224317)_(102224473_?)dup
|
|
|
NC_000012.11:g.(?_102224327)_(102224463_?)dup
|
|
|
NM_024312.5(GNPTAB):c.1027G>T (p.Val343Phe)
|
rs140518816
|
|
NM_024312.5(GNPTAB):c.1051A>G (p.Asn351Asp)
|
|
|
NM_024312.5(GNPTAB):c.1052A>G (p.Asn351Ser)
|
|
|
NM_024312.5(GNPTAB):c.1094T>C (p.Val365Ala)
|
|
|
NM_024312.5(GNPTAB):c.1113+3A>G
|
rs1428507375
|
|
NM_024312.5(GNPTAB):c.1113+4C>A
|
|
|
NM_024312.5(GNPTAB):c.1185C>G (p.Ile395Met)
|
|
|
NM_024312.5(GNPTAB):c.1209T>G (p.Ile403Met)
|
rs947905285
|
|
NM_024312.5(GNPTAB):c.1219G>A (p.Asp407Asn)
|
rs776478014
|
|
NM_024312.5(GNPTAB):c.1230G>C (p.Met410Ile)
|
|
|
NM_024312.5(GNPTAB):c.1325G>A (p.Cys442Tyr)
|
rs281864975
|
|
NM_024312.5(GNPTAB):c.1408+5G>C
|
|
|
NM_024312.5(GNPTAB):c.1409-3C>T
|
|
|
NM_024312.5(GNPTAB):c.142C>G (p.Gln48Glu)
|
rs2137158804
|
|
NM_024312.5(GNPTAB):c.1498A>T (p.Asn500Tyr)
|
rs2137119160
|
|
NM_024312.5(GNPTAB):c.14T>C (p.Leu5Pro)
|
|
|
NM_024312.5(GNPTAB):c.1517A>T (p.Asn506Ile)
|
|
|
NM_024312.5(GNPTAB):c.1523G>A (p.Gly508Glu)
|
|
|
NM_024312.5(GNPTAB):c.1540C>T (p.Leu514Phe)
|
rs1953089808
|
|
NM_024312.5(GNPTAB):c.1543G>T (p.Ala515Ser)
|
rs771144768
|
|
NM_024312.5(GNPTAB):c.1648C>G (p.Pro550Ala)
|
|
|
NM_024312.5(GNPTAB):c.1662C>A (p.His554Gln)
|
rs146177204
|
|
NM_024312.5(GNPTAB):c.1662C>G (p.His554Gln)
|
|
|
NM_024312.5(GNPTAB):c.1664A>G (p.Tyr555Cys)
|
|
|
NM_024312.5(GNPTAB):c.1666ATT[1] (p.Ile557del)
|
rs1555269798
|
|
NM_024312.5(GNPTAB):c.1684T>C (p.Cys562Arg)
|
|
|
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro)
|
rs143788461
|
|
NM_024312.5(GNPTAB):c.176A>C (p.Asn59Thr)
|
|
|
NM_024312.5(GNPTAB):c.1810A>G (p.Ser604Gly)
|
|
|
NM_024312.5(GNPTAB):c.1847C>T (p.Thr616Met)
|
|
|
NM_024312.5(GNPTAB):c.1873T>C (p.Phe625Leu)
|
rs1555269734
|
|
NM_024312.5(GNPTAB):c.1881G>T (p.Met627Ile)
|
rs757613660
|
|
NM_024312.5(GNPTAB):c.1903A>C (p.Thr635Pro)
|
|
|
NM_024312.5(GNPTAB):c.1945T>C (p.Tyr649His)
|
|
|
NM_024312.5(GNPTAB):c.1949A>G (p.Glu650Gly)
|
|
|
NM_024312.5(GNPTAB):c.1973TTC[1] (p.Leu659del)
|
rs754722814
|
|
NM_024312.5(GNPTAB):c.2012A>G (p.Lys671Arg)
|
rs145408865
|
|
NM_024312.5(GNPTAB):c.2020C>T (p.Arg674Cys)
|
|
|
NM_024312.5(GNPTAB):c.2027C>T (p.Pro676Leu)
|
|
|
NM_024312.5(GNPTAB):c.202C>T (p.Arg68Trp)
|
rs531738916
|
|
NM_024312.5(GNPTAB):c.2042A>G (p.His681Arg)
|
rs1262269049
|
|
NM_024312.5(GNPTAB):c.2087C>T (p.Pro696Leu)
|
rs1383772676
|
|
NM_024312.5(GNPTAB):c.2099T>C (p.Ile700Thr)
|
rs756585780
|
|
NM_024312.5(GNPTAB):c.2105T>C (p.Leu702Pro)
|
|
|
NM_024312.5(GNPTAB):c.2148G>C (p.Leu716Phe)
|
rs374600127
|
|
NM_024312.5(GNPTAB):c.221C>T (p.Pro74Leu)
|
|
|
NM_024312.5(GNPTAB):c.2243T>C (p.Ile748Thr)
|
rs2137116813
|
|
NM_024312.5(GNPTAB):c.2246_2263dup (p.Ile754_Thr755insLysAsnGlnAlaIleIle)
|
|
|
NM_024312.5(GNPTAB):c.2257A>T (p.Ile753Leu)
|
|
|
NM_024312.5(GNPTAB):c.227A>G (p.Asp76Gly)
|
|
|
NM_024312.5(GNPTAB):c.228C>A (p.Asp76Glu)
|
rs540190619
|
|
NM_024312.5(GNPTAB):c.2359A>G (p.Arg787Gly)
|
rs200559243
|
|
NM_024312.5(GNPTAB):c.2359A>T (p.Arg787Trp)
|
|
|
NM_024312.5(GNPTAB):c.2381G>A (p.Ser794Asn)
|
rs1566073760
|
|
NM_024312.5(GNPTAB):c.2403C>A (p.Asp801Glu)
|
|
|
NM_024312.5(GNPTAB):c.2463C>G (p.His821Gln)
|
|
|
NM_024312.5(GNPTAB):c.2498A>G (p.Glu833Gly)
|
rs2137116285
|
|
NM_024312.5(GNPTAB):c.2501A>G (p.Lys834Arg)
|
rs1169845050
|
|
NM_024312.5(GNPTAB):c.2657A>T (p.Asp886Val)
|
|
|
NM_024312.5(GNPTAB):c.2686A>G (p.Lys896Glu)
|
|
|
NM_024312.5(GNPTAB):c.2691_2693del (p.Lys898del)
|
rs281864999
|
|
NM_024312.5(GNPTAB):c.2706TCT[1] (p.Leu904del)
|
rs774128798
|
|
NM_024312.5(GNPTAB):c.2725T>G (p.Ser909Ala)
|
|
|
NM_024312.5(GNPTAB):c.2727_2732del (p.Leu910_Lys911del)
|
rs779351251
|
|
NM_024312.5(GNPTAB):c.2745_2750del (p.Tyr916_Phe917del)
|
rs1277911354
|
|
NM_024312.5(GNPTAB):c.2799T>A (p.Asp933Glu)
|
rs2137112904
|
|
NM_024312.5(GNPTAB):c.2825T>C (p.Leu942Pro)
|
rs2137112862
|
|
NM_024312.5(GNPTAB):c.2830A>C (p.Ser944Arg)
|
|
|
NM_024312.5(GNPTAB):c.2864C>T (p.Ala955Val)
|
rs138390866
|
|
NM_024312.5(GNPTAB):c.2886C>A (p.Asp962Glu)
|
rs368650569
|
|
NM_024312.5(GNPTAB):c.2887C>T (p.Arg963Trp)
|
|
|
NM_024312.5(GNPTAB):c.2954T>C (p.Val985Ala)
|
|
|
NM_024312.5(GNPTAB):c.2963C>A (p.Ser988Tyr)
|
rs2137112214
|
|
NM_024312.5(GNPTAB):c.2972T>G (p.Met991Arg)
|
|
|
NM_024312.5(GNPTAB):c.2984T>C (p.Phe995Ser)
|
rs1952988897
|
|
NM_024312.5(GNPTAB):c.2990A>G (p.Tyr997Cys)
|
rs1594210905
|
|
NM_024312.5(GNPTAB):c.3018G>C (p.Gln1006His)
|
|
|
NM_024312.5(GNPTAB):c.3026A>C (p.Asn1009Thr)
|
rs1952987566
|
|
NM_024312.5(GNPTAB):c.307G>A (p.Glu103Lys)
|
|
|
NM_024312.5(GNPTAB):c.3110T>C (p.Ile1037Thr)
|
|
|
NM_024312.5(GNPTAB):c.3115G>A (p.Glu1039Lys)
|
rs201356176
|
|
NM_024312.5(GNPTAB):c.3166A>T (p.Asn1056Tyr)
|
|
|
NM_024312.5(GNPTAB):c.3175A>G (p.Lys1059Glu)
|
|
|
NM_024312.5(GNPTAB):c.3214CCA[1] (p.Pro1073del)
|
rs1416737240
|
|
NM_024312.5(GNPTAB):c.3254C>T (p.Pro1085Leu)
|
|
|
NM_024312.5(GNPTAB):c.32A>G (p.Tyr11Cys)
|
|
|
NM_024312.5(GNPTAB):c.3364G>A (p.Ala1122Thr)
|
|
|
NM_024312.5(GNPTAB):c.3405C>T (p.Gly1135=)
|
rs746803948
|
|
NM_024312.5(GNPTAB):c.3414_3416dup (p.Asp1139dup)
|
rs745600783
|
|
NM_024312.5(GNPTAB):c.3415G>A (p.Asp1139Asn)
|
rs758156963
|
|
NM_024312.5(GNPTAB):c.3422_3424del (p.Arg1141del)
|
rs1952913803
|
|
NM_024312.5(GNPTAB):c.3431C>G (p.Pro1144Arg)
|
|
|
NM_024312.5(GNPTAB):c.3434+6G>C
|
|
|
NM_024312.5(GNPTAB):c.3438G>T (p.Lys1146Asn)
|
rs1952854319
|
|
NM_024312.5(GNPTAB):c.3498_3499insCATAAAGAT (p.Ala1166_Val1167insHisLysAsp)
|
rs1555268297
|
|
NM_024312.5(GNPTAB):c.3515A>G (p.Tyr1172Cys)
|
|
|
NM_024312.5(GNPTAB):c.3515A>T (p.Tyr1172Phe)
|
rs149859473
|
|
NM_024312.5(GNPTAB):c.3518A>G (p.Glu1173Gly)
|
|
|
NM_024312.5(GNPTAB):c.3529C>T (p.Pro1177Ser)
|
rs1040259737
|
|
NM_024312.5(GNPTAB):c.3566G>A (p.Arg1189Gln)
|
|
|
NM_024312.5(GNPTAB):c.3572G>A (p.Arg1191His)
|
|
|
NM_024312.5(GNPTAB):c.3586C>T (p.His1196Tyr)
|
|
|
NM_024312.5(GNPTAB):c.3587A>G (p.His1196Arg)
|
rs1566067234
|
|
NM_024312.5(GNPTAB):c.3603-9T>G
|
|
|
NM_024312.5(GNPTAB):c.3614G>A (p.Arg1205Gln)
|
|
|
NM_024312.5(GNPTAB):c.3641_3646del (p.Cys1214_Val1215del)
|
|
|
NM_024312.5(GNPTAB):c.3658A>G (p.Ile1220Val)
|
rs2137097771
|
|
NM_024312.5(GNPTAB):c.3664T>A (p.Phe1222Ile)
|
rs1952778790
|
|
NM_024312.5(GNPTAB):c.3678_3680del (p.Phe1228del)
|
|
|
NM_024312.5(GNPTAB):c.3693+3_3693+6del
|
rs758540278
|
|
NM_024312.5(GNPTAB):c.3694-1G>C
|
rs1297022622
|
|
NM_024312.5(GNPTAB):c.3707A>G (p.Lys1236Arg)
|
rs556318081
|
|
NM_024312.5(GNPTAB):c.3715A>G (p.Ile1239Val)
|
|
|
NM_024312.5(GNPTAB):c.3733A>T (p.Ile1245Leu)
|
rs774971931
|
|
NM_024312.5(GNPTAB):c.457G>A (p.Asp153Asn)
|
rs886048853
|
|
NM_024312.5(GNPTAB):c.560G>A (p.Ser187Asn)
|
|
|
NM_024312.5(GNPTAB):c.569A>G (p.Asp190Gly)
|
|
|
NM_024312.5(GNPTAB):c.571+3A>C
|
rs281864960
|
|
NM_024312.5(GNPTAB):c.636+3A>G
|
|
|
NM_024312.5(GNPTAB):c.636+4T>C
|
rs1306693913
|
|
NM_024312.5(GNPTAB):c.653T>C (p.Val218Ala)
|
rs1953322163
|
|
NM_024312.5(GNPTAB):c.718A>G (p.Thr240Ala)
|
rs2137136978
|
|
NM_024312.5(GNPTAB):c.758C>A (p.Ser253Tyr)
|
|
|
NM_024312.5(GNPTAB):c.796G>A (p.Val266Ile)
|
|
|
NM_024312.5(GNPTAB):c.800C>T (p.Ala267Val)
|
|
|
NM_024312.5(GNPTAB):c.808A>G (p.Lys270Glu)
|
|
|
NM_024312.5(GNPTAB):c.833A>G (p.Gln278Arg)
|
|
|
NM_024312.5(GNPTAB):c.862A>G (p.Met288Val)
|
|
|
NM_024312.5(GNPTAB):c.871G>A (p.Asp291Asn)
|
|
|
NM_024312.5(GNPTAB):c.909A>C (p.Leu303Phe)
|
|
|
NM_024312.5(GNPTAB):c.974A>G (p.Asp325Gly)
|
rs1953155939
|
|
NM_024312.5(GNPTAB):c.979G>A (p.Glu327Lys)
|
rs779983477
|
|