NM_015450.3(POT1):c.670G>A (p.Asp224Asn)
|
rs202187871
|
0.00012
|
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter)
|
rs756198077
|
0.00004
|
NM_015450.3(POT1):c.1071dup (p.Gln358fs)
|
rs750470470
|
0.00003
|
NM_015450.3(POT1):c.1164-1G>A
|
rs866612394
|
0.00002
|
NM_015450.3(POT1):c.233T>C (p.Ile78Thr)
|
rs947005337
|
0.00001
|
NM_015450.3(POT1):c.280C>G (p.Gln94Glu)
|
rs587777474
|
0.00001
|
NM_015450.3(POT1):c.991C>T (p.Gln331Ter)
|
rs531061783
|
0.00001
|
NC_000007.13:g.(?_124464016)_(124537227_?)del
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|
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NC_000007.13:g.(?_124482851)_(124483027_?)del
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NC_000007.13:g.(?_124486986)_(124537227_?)del
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NC_000007.13:g.(?_124491916)_(124537227_?)del
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NC_000007.13:g.(?_124491926)_(124537227_?)del
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NC_000007.13:g.(?_124499001)_(124511105_?)del
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NC_000007.13:g.(?_124503394)_(124537227_?)del
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NC_000007.13:g.(?_124510955)_(124511105_?)del
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NC_000007.13:g.(?_124510955)_(124537227_?)del
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NC_000007.14:g.(?_124823952)_(124897183_?)del
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NC_000007.14:g.(?_124840963)_(124853148_?)del
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NC_000007.14:g.(?_124852966)_(124853144_?)del
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NC_000007.14:g.(?_124892256)_(124892390_?)del
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|
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NC_000007.14:g.(?_124892256)_(124897173_?)del
|
|
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NM_015450.3(POT1):c.10-2A>C
|
rs1554434788
|
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NM_015450.3(POT1):c.1026T>G (p.Tyr342Ter)
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|
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NM_015450.3(POT1):c.1030G>T (p.Glu344Ter)
|
rs951589289
|
|
NM_015450.3(POT1):c.1060_1063del (p.Gln354fs)
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|
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NM_015450.3(POT1):c.1065dup (p.Ala356fs)
|
rs1225878757
|
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NM_015450.3(POT1):c.1071del (p.Gln358fs)
|
rs1562981913
|
|
NM_015450.3(POT1):c.1072C>T (p.Gln358Ter)
|
rs1562981898
|
|
NM_015450.3(POT1):c.1126C>T (p.Gln376Ter)
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|
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NM_015450.3(POT1):c.1147_1151del (p.Pro383fs)
|
rs1554420583
|
|
NM_015450.3(POT1):c.118G>T (p.Gly40Ter)
|
rs1796390355
|
|
NM_015450.3(POT1):c.1222del (p.Thr408fs)
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|
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NM_015450.3(POT1):c.1251del (p.Leu418fs)
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|
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NM_015450.3(POT1):c.1262C>A (p.Ser421Ter)
|
rs1413163992
|
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NM_015450.3(POT1):c.1272G>A (p.Trp424Ter)
|
rs2116461581
|
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NM_015450.3(POT1):c.1294C>T (p.Arg432Ter)
|
rs758341603
|
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NM_015450.3(POT1):c.129T>A (p.Tyr43Ter)
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|
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NM_015450.3(POT1):c.1300del (p.Lys433_Val434insTer)
|
rs1795015022
|
|
NM_015450.3(POT1):c.1322dup (p.Asn441fs)
|
rs1358966427
|
|
NM_015450.3(POT1):c.1332del (p.Leu445fs)
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|
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NM_015450.3(POT1):c.1348G>T (p.Glu450Ter)
|
rs797045169
|
|
NM_015450.3(POT1):c.1361del (p.Leu453_Leu454insTer)
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|
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NM_015450.3(POT1):c.1379_1380del (p.Leu460fs)
|
rs2116444583
|
|
NM_015450.3(POT1):c.1381_1382del (p.Leu460_Ser461insTer)
|
rs2116444559
|
|
NM_015450.3(POT1):c.1400C>A (p.Ser467Ter)
|
rs1410842025
|
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NM_015450.3(POT1):c.1411_1414delinsTTTTT (p.Asn471fs)
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rs1794873983
|
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NM_015450.3(POT1):c.1414_1415insT (p.Ser472fs)
|
rs1794873824
|
|
NM_015450.3(POT1):c.1426_1427insGCCGGGCGCGGTGGCTCGCGCCTGTAGTCCCAGCACGTCGGGAGGCCGAGGCGGGAGTATGGCGTGGACACGGGAACCGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAATAGTGTAATTCCTG (p.Val476delinsGlyArgAlaArgTrpLeuAlaProValValProAlaArgArgGluAlaGluAlaGlyValTrpArgGlyHisGlyAsnArgXaaXaaXaaXaaLysLysLysLysLysLysLysTer)
|
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NM_015450.3(POT1):c.1475_1476insA (p.Phe492fs)
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|
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NM_015450.3(POT1):c.147del (p.Ile49fs)
|
rs1064794328
|
|
NM_015450.3(POT1):c.1483C>T (p.Gln495Ter)
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|
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NM_015450.3(POT1):c.1502_1503del (p.Tyr501fs)
|
rs2116443784
|
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NM_015450.3(POT1):c.1516dup (p.Cys506fs)
|
rs1584749232
|
|
NM_015450.3(POT1):c.1518T>A (p.Cys506Ter)
|
rs1554416461
|
|
NM_015450.3(POT1):c.154C>T (p.Gln52Ter)
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|
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NM_015450.3(POT1):c.1571G>A (p.Trp524Ter)
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|
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NM_015450.3(POT1):c.1572G>A (p.Trp524Ter)
|
rs1794703569
|
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NM_015450.3(POT1):c.1593del (p.Ala532fs)
|
rs2116421906
|
|
NM_015450.3(POT1):c.1615C>T (p.Gln539Ter)
|
rs2116415082
|
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NM_015450.3(POT1):c.161dup (p.Asn54fs)
|
rs1554429205
|
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NM_015450.3(POT1):c.1629_1632dup (p.Thr545fs)
|
|
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NM_015450.3(POT1):c.1630dup (p.Met544fs)
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|
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NM_015450.3(POT1):c.1639_1679dup (p.Met560delinsIleHisLeuMetMetGluGlnGluTyrTer)
|
rs1794651890
|
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NM_015450.3(POT1):c.1672dup (p.Tyr558fs)
|
rs2116414744
|
|
NM_015450.3(POT1):c.1682del (p.Asp561fs)
|
|
|
NM_015450.3(POT1):c.1687-1G>A
|
rs587777473
|
|
NM_015450.3(POT1):c.169_170dup (p.Leu57_Thr58insTer)
|
|
|
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs)
|
rs758673417
|
|
NM_015450.3(POT1):c.1869G>C (p.Gln623His)
|
rs587777478
|
|
NM_015450.3(POT1):c.191del (p.Gly64fs)
|
rs1795853533
|
|
NM_015450.3(POT1):c.1A>G (p.Met1Val)
|
rs1584510207
|
|
NM_015450.3(POT1):c.212dup (p.Ile72fs)
|
rs1795852638
|
|
NM_015450.3(POT1):c.217del (p.Tyr73fs)
|
|
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NM_015450.3(POT1):c.224del (p.Asn75fs)
|
|
|
NM_015450.3(POT1):c.224dup (p.Asn75fs)
|
rs2116567355
|
|
NM_015450.3(POT1):c.255+1G>T
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rs1584777699
|
|
NM_015450.3(POT1):c.255G>A (p.Lys85=)
|
rs747851551
|
|
NM_015450.3(POT1):c.258dup (p.Gln87fs)
|
rs1230015941
|
|
NM_015450.3(POT1):c.266A>G (p.Tyr89Cys)
|
rs587777472
|
|
NM_015450.3(POT1):c.279_280del (p.Gln94fs)
|
rs2116542675
|
|
NM_015450.3(POT1):c.281_282del (p.Gln94fs)
|
rs1397398300
|
|
NM_015450.3(POT1):c.283G>T (p.Gly95Cys)
|
rs797045168
|
|
NM_015450.3(POT1):c.285_286insCT (p.Ile96fs)
|
rs1795652293
|
|
NM_015450.3(POT1):c.2T>C (p.Met1Thr)
|
rs2116643224
|
|
NM_015450.3(POT1):c.2_9dup (p.Val4fs)
|
rs1796511665
|
|
NM_015450.3(POT1):c.2del (p.Met1fs)
|
|
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NM_015450.3(POT1):c.312_369dup (p.Asn124delinsAspValTer)
|
|
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NM_015450.3(POT1):c.329dup (p.Leu110fs)
|
rs2116542410
|
|
NM_015450.3(POT1):c.33T>G (p.Tyr11Ter)
|
|
|
NM_015450.3(POT1):c.349C>T (p.Arg117Cys)
|
rs780936436
|
|
NM_015450.3(POT1):c.36_37dup (p.Pro13fs)
|
|
|
NM_015450.3(POT1):c.371del (p.Asn124fs)
|
|
|
NM_015450.3(POT1):c.373_374del (p.Phe125fs)
|
rs1584773024
|
|
NM_015450.3(POT1):c.3G>A (p.Met1Ile)
|
|
|
NM_015450.3(POT1):c.410G>A (p.Arg137His)
|
rs587777475
|
|
NM_015450.3(POT1):c.43_58del (p.Asn15fs)
|
rs1796391959
|
|
NM_015450.3(POT1):c.449T>G (p.Leu150Ter)
|
rs918544320
|
|
NM_015450.3(POT1):c.533del (p.Ser178fs)
|
|
|
NM_015450.3(POT1):c.562_563del (p.Arg188fs)
|
rs2116526564
|
|
NM_015450.3(POT1):c.567_568del (p.Pro190fs)
|
|
|
NM_015450.3(POT1):c.582G>A (p.Trp194Ter)
|
|
|
NM_015450.3(POT1):c.631dup (p.His211fs)
|
rs2116525878
|
|
NM_015450.3(POT1):c.669C>G (p.Tyr223Ter)
|
rs1307901642
|
|
NM_015450.3(POT1):c.719del (p.Arg240fs)
|
rs2116505279
|
|
NM_015450.3(POT1):c.744_745insA (p.Gln249fs)
|
rs2116505095
|
|
NM_015450.3(POT1):c.766C>T (p.Gln256Ter)
|
|
|
NM_015450.3(POT1):c.777_781del (p.Leu259fs)
|
rs2116504894
|
|
NM_015450.3(POT1):c.782T>G (p.Leu261Ter)
|
rs1795353084
|
|
NM_015450.3(POT1):c.809G>A (p.Ser270Asn)
|
rs587777477
|
|
NM_015450.3(POT1):c.812dup (p.Tyr271Ter)
|
|
|
NM_015450.3(POT1):c.818G>A (p.Arg273Gln)
|
rs587777476
|
|
NM_015450.3(POT1):c.818G>T (p.Arg273Leu)
|
rs587777476
|
|
NM_015450.3(POT1):c.848_849del (p.Asn282_Ser283insTer)
|
|
|
NM_015450.3(POT1):c.854_855del (p.Val285fs)
|
|
|
NM_015450.3(POT1):c.869+4del
|
rs1445280218
|
|
NM_015450.3(POT1):c.873_885del (p.Asp291fs)
|
rs2116501128
|
|
NM_015450.3(POT1):c.892del (p.Thr298fs)
|
|
|
NM_015450.3(POT1):c.9+4A>C
|
|
|
NM_015450.3(POT1):c.910dup (p.Asp304fs)
|
|
|
NM_015450.3(POT1):c.921T>A (p.Cys307Ter)
|
|
|
NM_015450.3(POT1):c.926C>G (p.Ser309Ter)
|
rs746091720
|
|