NM_003640.5(ELP1):c.2204+6T>C
|
rs111033171
|
0.00051
|
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)
|
rs376078668
|
0.00004
|
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)
|
rs926177767
|
0.00003
|
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter)
|
rs767527819
|
0.00002
|
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)
|
rs1291760879
|
0.00002
|
NM_003640.5(ELP1):c.1361-1G>T
|
rs372225464
|
0.00001
|
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)
|
rs761911009
|
0.00001
|
NM_003640.5(ELP1):c.3424C>T (p.Arg1142Ter)
|
rs768015419
|
0.00001
|
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter)
|
rs762224071
|
0.00001
|
NM_003640.5(ELP1):c.707_711dup (p.Ala238fs)
|
rs1390547777
|
0.00001
|
NM_003640.5(ELP1):c.737G>A (p.Trp246Ter)
|
rs1317221906
|
0.00001
|
NM_003640.5(ELP1):c.969G>A (p.Trp323Ter)
|
rs1829266738
|
0.00001
|
NC_000009.11:g.(111644468_111651611)_(111696613_?)del
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|
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NC_000009.11:g.(?_111631385)_(111663971_?)del
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NC_000009.11:g.(?_111642322)_(111644477_?)del
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NC_000009.11:g.(?_111658756)_(111670704_?)del
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NC_000009.11:g.(?_111665109)_(111665959_?)del
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NC_000009.11:g.(?_111673280)_(111679960_?)del
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NC_000009.11:g.(?_111679817)_(111679960_?)del
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NC_000009.11:g.(?_111681081)_(111681639_?)del
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NC_000009.11:g.(?_111692039)_(111693436_?)del
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NC_000009.12:g.(?_108877985)_(108931156_?)del
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NC_000009.12:g.(?_108930987)_(108931156_?)del
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NC_000009.12:g.108902941CT[1]
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|
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NC_000009.12:g.108929922del
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|
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NM_003640.5(ELP1):c.1052G>A (p.Trp351Ter)
|
rs2132016798
|
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NM_003640.5(ELP1):c.1052_1055dup (p.Asp352fs)
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|
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NM_003640.5(ELP1):c.1053G>A (p.Trp351Ter)
|
rs2132016792
|
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NM_003640.5(ELP1):c.1066_1067dup (p.Tyr357fs)
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|
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NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer)
|
rs774890086
|
|
NM_003640.5(ELP1):c.1213del (p.Arg405fs)
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|
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NM_003640.5(ELP1):c.1242C>A (p.Cys414Ter)
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|
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NM_003640.5(ELP1):c.1247dup (p.Tyr416Ter)
|
|
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NM_003640.5(ELP1):c.1249C>T (p.Gln417Ter)
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|
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NM_003640.5(ELP1):c.1269dup (p.Val424fs)
|
rs2132013817
|
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NM_003640.5(ELP1):c.1289T>A (p.Leu430Ter)
|
rs2132013740
|
|
NM_003640.5(ELP1):c.1333del (p.Ser445fs)
|
rs2132013543
|
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NM_003640.5(ELP1):c.1339C>T (p.Gln447Ter)
|
rs1271784136
|
|
NM_003640.5(ELP1):c.138dup (p.Val47fs)
|
rs1564110292
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NM_003640.5(ELP1):c.1406del (p.Gly469fs)
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|
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NM_003640.5(ELP1):c.1433del (p.Arg478fs)
|
rs2132007757
|
|
NM_003640.5(ELP1):c.1465C>T (p.Gln489Ter)
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|
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NM_003640.5(ELP1):c.1483_1505del (p.Asp495fs)
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|
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NM_003640.5(ELP1):c.1486C>T (p.Gln496Ter)
|
rs749704610
|
|
NM_003640.5(ELP1):c.1499del (p.Pro500fs)
|
|
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NM_003640.5(ELP1):c.1524G>A (p.Trp508Ter)
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|
|
NM_003640.5(ELP1):c.1615_1618del (p.Asp539fs)
|
rs2132003172
|
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NM_003640.5(ELP1):c.1696_1697del (p.Thr566fs)
|
rs2131996846
|
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NM_003640.5(ELP1):c.1731_1735del (p.Gln577fs)
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|
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NM_003640.5(ELP1):c.1754C>A (p.Ser585Ter)
|
rs1828866977
|
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NM_003640.5(ELP1):c.1884T>A (p.Cys628Ter)
|
rs2131992501
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NM_003640.5(ELP1):c.1886del (p.Arg629fs)
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NM_003640.5(ELP1):c.1961del (p.Thr654fs)
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NM_003640.5(ELP1):c.1990del (p.Cys664fs)
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NM_003640.5(ELP1):c.2006C>A (p.Ser669Ter)
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rs1587896788
|
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NM_003640.5(ELP1):c.2020C>T (p.Gln674Ter)
|
rs2131988821
|
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NM_003640.5(ELP1):c.202del (p.Ser68fs)
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|
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NM_003640.5(ELP1):c.2035del (p.Ser679fs)
|
rs1587895234
|
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NM_003640.5(ELP1):c.2076dup (p.Arg693fs)
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rs763445509
|
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NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)
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rs137853022
|
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NM_003640.5(ELP1):c.2088del (p.Ile697fs)
|
rs2131988498
|
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NM_003640.5(ELP1):c.2126T>G (p.Leu709Ter)
|
|
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NM_003640.5(ELP1):c.2164C>T (p.Arg722Ter)
|
|
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NM_003640.5(ELP1):c.2268T>A (p.Tyr756Ter)
|
rs1828651198
|
|
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs)
|
rs1341613149
|
|
NM_003640.5(ELP1):c.2450del (p.Asp817fs)
|
|
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NM_003640.5(ELP1):c.2468_2469del (p.Met823fs)
|
|
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NM_003640.5(ELP1):c.249del (p.Cys84fs)
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|
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NM_003640.5(ELP1):c.2505C>A (p.Tyr835Ter)
|
rs1564084140
|
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NM_003640.5(ELP1):c.2521dup (p.Thr841fs)
|
|
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NM_003640.5(ELP1):c.252_255del (p.Cys84fs)
|
|
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NM_003640.5(ELP1):c.254_255dup (p.Ala86fs)
|
rs1306800890
|
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NM_003640.5(ELP1):c.254del (p.Val85fs)
|
|
|
NM_003640.5(ELP1):c.2576del (p.His859fs)
|
|
|
NM_003640.5(ELP1):c.2624_2625del (p.Glu875fs)
|
|
|
NM_003640.5(ELP1):c.2642T>A (p.Leu881Ter)
|
rs2131980225
|
|
NM_003640.5(ELP1):c.2657dup (p.Asp886fs)
|
|
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NM_003640.5(ELP1):c.2729C>A (p.Ser910Ter)
|
|
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NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)
|
rs28939712
|
|
NM_003640.5(ELP1):c.2759_2772del (p.Pro919_Phe920insTer)
|
|
|
NM_003640.5(ELP1):c.2859T>A (p.Cys953Ter)
|
rs762459906
|
|
NM_003640.5(ELP1):c.2891del (p.Asn963_Leu964insTer)
|
|
|
NM_003640.5(ELP1):c.2894_2906del (p.Ile965fs)
|
|
|
NM_003640.5(ELP1):c.2950C>T (p.Gln984Ter)
|
|
|
NM_003640.5(ELP1):c.3059C>A (p.Ser1020Ter)
|
|
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NM_003640.5(ELP1):c.3060dup (p.Ala1021fs)
|
rs151101843
|
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NM_003640.5(ELP1):c.307G>T (p.Glu103Ter)
|
rs2132045613
|
|
NM_003640.5(ELP1):c.312T>C (p.Cys104=)
|
rs1291760879
|
|
NM_003640.5(ELP1):c.3130C>T (p.Gln1044Ter)
|
|
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NM_003640.5(ELP1):c.3175C>T (p.Gln1059Ter)
|
rs1828239449
|
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NM_003640.5(ELP1):c.31G>T (p.Glu11Ter)
|
|
|
NM_003640.5(ELP1):c.3200dup (p.Met1067fs)
|
|
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NM_003640.5(ELP1):c.3216_3217del (p.Ala1073fs)
|
|
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NM_003640.5(ELP1):c.3252del (p.Glu1085fs)
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|
|
NM_003640.5(ELP1):c.3291C>G (p.Tyr1097Ter)
|
rs924743948
|
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NM_003640.5(ELP1):c.3343G>T (p.Glu1115Ter)
|
rs906880093
|
|
NM_003640.5(ELP1):c.3378dup (p.Gln1127fs)
|
rs1302114356
|
|
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs)
|
rs769748960
|
|
NM_003640.5(ELP1):c.3408del (p.Lys1136fs)
|
rs1564072540
|
|
NM_003640.5(ELP1):c.3475dup (p.His1159fs)
|
rs2118938912
|
|
NM_003640.5(ELP1):c.348_351dup (p.Ser118fs)
|
rs1587924452
|
|
NM_003640.5(ELP1):c.349del (p.Trp117fs)
|
rs1587924458
|
|
NM_003640.5(ELP1):c.3578del (p.Ser1193fs)
|
|
|
NM_003640.5(ELP1):c.3608del (p.Lys1203fs)
|
|
|
NM_003640.5(ELP1):c.361C>T (p.Gln121Ter)
|
|
|
NM_003640.5(ELP1):c.3622A>T (p.Lys1208Ter)
|
|
|
NM_003640.5(ELP1):c.3631_3634dup (p.Pro1212fs)
|
|
|
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs)
|
rs781333644
|
|
NM_003640.5(ELP1):c.3688G>T (p.Glu1230Ter)
|
rs764936574
|
|
NM_003640.5(ELP1):c.3714dup (p.Ile1239fs)
|
rs1827772289
|
|
NM_003640.5(ELP1):c.3765dup (p.Gln1256fs)
|
rs2118934288
|
|
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter)
|
rs1827767235
|
|
NM_003640.5(ELP1):c.3822G>A (p.Trp1274Ter)
|
rs543759021
|
|
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs)
|
rs1446325480
|
|
NM_003640.5(ELP1):c.3834C>G (p.Tyr1278Ter)
|
|
|
NM_003640.5(ELP1):c.3866_3870del (p.Pro1289fs)
|
rs2118925108
|
|
NM_003640.5(ELP1):c.474dup (p.Ile159fs)
|
rs1829700782
|
|
NM_003640.5(ELP1):c.505C>T (p.Gln169Ter)
|
|
|
NM_003640.5(ELP1):c.505_506del (p.Gln169fs)
|
rs1829698275
|
|
NM_003640.5(ELP1):c.505_506dup (p.Gln169fs)
|
|
|
NM_003640.5(ELP1):c.572G>A (p.Trp191Ter)
|
rs1829561209
|
|
NM_003640.5(ELP1):c.597del (p.Trp200fs)
|
|
|
NM_003640.5(ELP1):c.599G>A (p.Trp200Ter)
|
|
|
NM_003640.5(ELP1):c.609_610dup (p.Gly204fs)
|
|
|
NM_003640.5(ELP1):c.626_627del (p.Val209fs)
|
|
|
NM_003640.5(ELP1):c.628_631dup (p.Val211fs)
|
|
|
NM_003640.5(ELP1):c.641del (p.Pro214fs)
|
rs759412460
|
|
NM_003640.5(ELP1):c.64C>T (p.Gln22Ter)
|
rs2132052954
|
|
NM_003640.5(ELP1):c.666_667del (p.Arg222fs)
|
|
|
NM_003640.5(ELP1):c.671G>A (p.Trp224Ter)
|
rs1829544561
|
|
NM_003640.5(ELP1):c.674_678del (p.Asn225fs)
|
rs1449016398
|
|
NM_003640.5(ELP1):c.676C>T (p.Arg226Ter)
|
|
|
NM_003640.5(ELP1):c.697dup (p.Thr233fs)
|
|
|
NM_003640.5(ELP1):c.738G>A (p.Trp246Ter)
|
|
|
NM_003640.5(ELP1):c.746C>G (p.Ser249Ter)
|
|
|
NM_003640.5(ELP1):c.79C>T (p.Arg27Ter)
|
rs868073099
|
|
NM_003640.5(ELP1):c.814G>T (p.Gly272Ter)
|
|
|
NM_003640.5(ELP1):c.836del (p.Thr279fs)
|
|
|
NM_003640.5(ELP1):c.881G>A (p.Trp294Ter)
|
|
|
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)
|
|
|
NM_003640.5(ELP1):c.88C>T (p.Gln30Ter)
|
|
|
NM_003640.5(ELP1):c.909_919del (p.Trp304fs)
|
rs2132025166
|
|
NM_003640.5(ELP1):c.94del (p.Thr32fs)
|
|
|
NM_003640.5(ELP1):c.955del (p.Cys319fs)
|
|
|
NM_003640.5(ELP1):c.97del (p.Val33fs)
|
rs1554703851
|
|
NM_003640.5(ELP1):c.982dup (p.Tyr328fs)
|
rs2132017050
|
|
NM_003640.5(ELP1):c.990G>A (p.Trp330Ter)
|
rs1829265811
|
|