NM_024312.5(GNPTAB):c.2715+2T>G
|
rs281865001
|
0.00002
|
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=)
|
rs281865025
|
0.00002
|
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter)
|
rs281864969
|
0.00001
|
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)
|
rs34159654
|
0.00001
|
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr)
|
rs281864980
|
0.00001
|
NM_024312.5(GNPTAB):c.1600G>A (p.Asp534Asn)
|
rs750240374
|
0.00001
|
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys)
|
rs769587233
|
0.00001
|
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys)
|
rs1481471124
|
0.00001
|
NM_024312.5(GNPTAB):c.44C>A (p.Ser15Tyr)
|
rs281864947
|
0.00001
|
NM_024312.5(GNPTAB):c.637-6T>G
|
rs750793712
|
0.00001
|
NC_000012.11:g.(?_102140932)_(102155551_?)del
|
|
|
NC_000012.11:g.(?_102158416)_(102185374_?)del
|
|
|
NM_024312.5(GNPTAB):c.1001G>T (p.Arg334Leu)
|
rs281864970
|
|
NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs)
|
rs748809942
|
|
NM_024312.5(GNPTAB):c.1021_1023del (p.Pro341del)
|
rs1060499679
|
|
NM_024312.5(GNPTAB):c.1032del (p.Asn345fs)
|
rs1555270321
|
|
NM_024312.5(GNPTAB):c.1113+1G>T
|
|
|
NM_024312.5(GNPTAB):c.1114-2A>G
|
rs2137123738
|
|
NM_024312.5(GNPTAB):c.1114-8_1119del
|
rs2137123733
|
|
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro)
|
rs112543062
|
|
NM_024312.5(GNPTAB):c.1144A>G (p.Thr382Ala)
|
|
|
NM_024312.5(GNPTAB):c.1154C>A (p.Ser385Ter)
|
|
|
NM_024312.5(GNPTAB):c.117+1G>T
|
rs1324141092
|
|
NM_024312.5(GNPTAB):c.1284+1G>T
|
rs1256349457
|
|
NM_024312.5(GNPTAB):c.137del (p.Arg46fs)
|
|
|
NM_024312.5(GNPTAB):c.1389_1390del (p.Trp463_Asp464delinsTer)
|
rs1555270066
|
|
NM_024312.5(GNPTAB):c.1408+1G>T
|
rs1060499680
|
|
NM_024312.5(GNPTAB):c.1479G>A (p.Trp493Ter)
|
|
|
NM_024312.5(GNPTAB):c.1479del (p.Trp493fs)
|
|
|
NM_024312.5(GNPTAB):c.1492G>T (p.Gly498Ter)
|
rs1953090856
|
|
NM_024312.5(GNPTAB):c.1528del (p.Ala510fs)
|
|
|
NM_024312.5(GNPTAB):c.1538G>A (p.Trp513Ter)
|
|
|
NM_024312.5(GNPTAB):c.1612+1G>A
|
rs1566075180
|
|
NM_024312.5(GNPTAB):c.1613-1G>C
|
|
|
NM_024312.5(GNPTAB):c.1613-25del
|
rs546802775
|
|
NM_024312.5(GNPTAB):c.1633A>T (p.Lys545Ter)
|
rs1953073126
|
|
NM_024312.5(GNPTAB):c.1677del (p.Gly560fs)
|
|
|
NM_024312.5(GNPTAB):c.1678_1679insAGACA (p.Gly560fs)
|
|
|
NM_024312.5(GNPTAB):c.1693del (p.Tyr565fs)
|
|
|
NM_024312.5(GNPTAB):c.1699_1700insAGAGACAG (p.Ser567fs)
|
|
|
NM_024312.5(GNPTAB):c.1760G>A (p.Arg587Gln)
|
|
|
NM_024312.5(GNPTAB):c.1780A>T (p.Lys594Ter)
|
rs1953069110
|
|
NM_024312.5(GNPTAB):c.184G>T (p.Gly62Ter)
|
rs1869312458
|
|
NM_024312.5(GNPTAB):c.1882C>T (p.Gln628Ter)
|
rs1953067028
|
|
NM_024312.5(GNPTAB):c.1888del (p.Thr630fs)
|
|
|
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs)
|
rs747789493
|
|
NM_024312.5(GNPTAB):c.1954_1955del (p.Leu652fs)
|
|
|
NM_024312.5(GNPTAB):c.2009_2010del (p.Pro670fs)
|
|
|
NM_024312.5(GNPTAB):c.2010del (p.Glu672fs)
|
|
|
NM_024312.5(GNPTAB):c.203+1G>A
|
|
|
NM_024312.5(GNPTAB):c.203+2T>C
|
rs1594242785
|
|
NM_024312.5(GNPTAB):c.204-1G>C
|
rs748389002
|
|
NM_024312.5(GNPTAB):c.204-2A>G
|
|
|
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs)
|
rs34901902
|
|
NM_024312.5(GNPTAB):c.2054C>A (p.Ser685Ter)
|
|
|
NM_024312.5(GNPTAB):c.2102C>A (p.Ser701Ter)
|
rs1953060930
|
|
NM_024312.5(GNPTAB):c.2129_2135del (p.Ser710fs)
|
rs1953060183
|
|
NM_024312.5(GNPTAB):c.2198C>A (p.Ser733Ter)
|
rs1953059037
|
|
NM_024312.5(GNPTAB):c.2211del (p.Arg737fs)
|
|
|
NM_024312.5(GNPTAB):c.2219_2220del (p.Leu740fs)
|
|
|
NM_024312.5(GNPTAB):c.2251C>T (p.Gln751Ter)
|
rs1566073911
|
|
NM_024312.5(GNPTAB):c.2275_2276del (p.Thr758_Asn759insTer)
|
rs281864992
|
|
NM_024312.5(GNPTAB):c.2285T>A (p.Leu762Ter)
|
|
|
NM_024312.5(GNPTAB):c.2317_2318del (p.Ser773fs)
|
|
|
NM_024312.5(GNPTAB):c.2358_2370del (p.Gln786fs)
|
|
|
NM_024312.5(GNPTAB):c.2369_2370del (p.Phe790fs)
|
rs1060499685
|
|
NM_024312.5(GNPTAB):c.2401_2402delinsAACC (p.Asp801fs)
|
|
|
NM_024312.5(GNPTAB):c.242G>T (p.Trp81Leu)
|
rs281864953
|
|
NM_024312.5(GNPTAB):c.24_28del (p.Arg8fs)
|
|
|
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs)
|
rs281864996
|
|
NM_024312.5(GNPTAB):c.2550_2554dup (p.Ile852fs)
|
rs281864996
|
|
NM_024312.5(GNPTAB):c.2614del (p.Val872fs)
|
rs1060499681
|
|
NM_024312.5(GNPTAB):c.2617dup (p.Thr873fs)
|
rs752874974
|
|
NM_024312.5(GNPTAB):c.2675dup (p.Leu892fs)
|
rs1555269488
|
|
NM_024312.5(GNPTAB):c.2682G>A (p.Trp894Ter)
|
rs779927550
|
|
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs)
|
rs281864999
|
|
NM_024312.5(GNPTAB):c.2731A>T (p.Lys911Ter)
|
rs1953000660
|
|
NM_024312.5(GNPTAB):c.2761A>T (p.Lys921Ter)
|
rs1952999818
|
|
NM_024312.5(GNPTAB):c.2794_2796delinsTT (p.Ala932fs)
|
|
|
NM_024312.5(GNPTAB):c.2866C>T (p.His956Tyr)
|
rs281865004
|
|
NM_024312.5(GNPTAB):c.2908C>T (p.Gln970Ter)
|
rs1952995212
|
|
NM_024312.5(GNPTAB):c.2915+1G>A
|
rs1952995034
|
|
NM_024312.5(GNPTAB):c.2947_2954dup (p.Arg986fs)
|
rs1555269154
|
|
NM_024312.5(GNPTAB):c.2953_2954delinsA (p.Val985fs)
|
rs1952989955
|
|
NM_024312.5(GNPTAB):c.2957G>A (p.Arg986His)
|
rs776312538
|
|
NM_024312.5(GNPTAB):c.295C>T (p.Gln99Ter)
|
rs1868886361
|
|
NM_024312.5(GNPTAB):c.2985_2989del (p.Phe995fs)
|
rs1952988642
|
|
NM_024312.5(GNPTAB):c.2991T>A (p.Tyr997Ter)
|
|
|
NM_024312.5(GNPTAB):c.2995del (p.Tyr999fs)
|
|
|
NM_024312.5(GNPTAB):c.3016C>T (p.Gln1006Ter)
|
rs1952987753
|
|
NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly)
|
rs281865007
|
|
NM_024312.5(GNPTAB):c.3082A>T (p.Arg1028Ter)
|
rs1952986419
|
|
NM_024312.5(GNPTAB):c.3134_3135+8delinsCGTTAAGTAGATT
|
|
|
NM_024312.5(GNPTAB):c.3136-1G>A
|
rs1952971551
|
|
NM_024312.5(GNPTAB):c.3165_3168del (p.Asn1056fs)
|
|
|
NM_024312.5(GNPTAB):c.323+1G>A
|
rs2137150067
|
|
NM_024312.5(GNPTAB):c.324-2A>G
|
|
|
NM_024312.5(GNPTAB):c.3250-10_3335+112dup
|
rs1555268712
|
|
NM_024312.5(GNPTAB):c.3250-16_3335+104dup
|
rs1952918542
|
|
NM_024312.5(GNPTAB):c.3250-1_3250delinsAT
|
rs1060499687
|
|
NM_024312.5(GNPTAB):c.3250-2A>G
|
rs875989952
|
|
NM_024312.5(GNPTAB):c.3254dup (p.Val1086fs)
|
|
|
NM_024312.5(GNPTAB):c.3271_3272del (p.Val1091fs)
|
|
|
NM_024312.5(GNPTAB):c.3294_3297del (p.Asp1099fs)
|
|
|
NM_024312.5(GNPTAB):c.3301dup (p.Ile1101fs)
|
|
|
NM_024312.5(GNPTAB):c.3307_3318delinsCAGTAACT (p.Lys1103_Lys1106delinsGlnTer)
|
rs1952921914
|
|
NM_024312.5(GNPTAB):c.3336-1G>A
|
rs397507562
|
|
NM_024312.5(GNPTAB):c.3449del (p.Leu1150fs)
|
rs1060499684
|
|
NM_024312.5(GNPTAB):c.3539C>T (p.Ser1180Phe)
|
rs1060499689
|
|
NM_024312.5(GNPTAB):c.3541C>T (p.Gln1181Ter)
|
rs1257678960
|
|
NM_024312.5(GNPTAB):c.3575T>C (p.Phe1192Ser)
|
rs1060499688
|
|
NM_024312.5(GNPTAB):c.3602+2T>A
|
rs1952850476
|
|
NM_024312.5(GNPTAB):c.3602G>A (p.Trp1201Ter)
|
rs1952850511
|
|
NM_024312.5(GNPTAB):c.3603G>A (p.Trp1201Ter)
|
rs1555267839
|
|
NM_024312.5(GNPTAB):c.366-2A>G
|
rs1555271868
|
|
NM_024312.5(GNPTAB):c.378dup (p.Glu127fs)
|
rs1555271865
|
|
NM_024312.5(GNPTAB):c.39C>A (p.Cys13Ter)
|
rs1555277081
|
|
NM_024312.5(GNPTAB):c.441del (p.Asn148fs)
|
rs281864955
|
|
NM_024312.5(GNPTAB):c.45_49del (p.His16fs)
|
|
|
NM_024312.5(GNPTAB):c.542C>G (p.Ser181Ter)
|
rs756660023
|
|
NM_024312.5(GNPTAB):c.56_57del (p.Gly19fs)
|
|
|
NM_024312.5(GNPTAB):c.571+1G>A
|
rs1412230289
|
|
NM_024312.5(GNPTAB):c.571+4A>T
|
rs1868618470
|
|
NM_024312.5(GNPTAB):c.571G>A (p.Val191Ile)
|
rs751953529
|
|
NM_024312.5(GNPTAB):c.598A>T (p.Lys200Ter)
|
rs1953327561
|
|
NM_024312.5(GNPTAB):c.599_600del (p.Lys200fs)
|
|
|
NM_024312.5(GNPTAB):c.635T>A (p.Leu212Ter)
|
rs1953326710
|
|
NM_024312.5(GNPTAB):c.636+1G>A
|
rs746175107
|
|
NM_024312.5(GNPTAB):c.637-1G>A
|
rs281864962
|
|
NM_024312.5(GNPTAB):c.637-1del
|
|
|
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs)
|
rs281864963
|
|
NM_024312.5(GNPTAB):c.680T>A (p.Leu227Ter)
|
rs1953321606
|
|
NM_024312.5(GNPTAB):c.694G>T (p.Gly232Ter)
|
|
|
NM_024312.5(GNPTAB):c.699_700insGTTT (p.Pro234fs)
|
|
|
NM_024312.5(GNPTAB):c.712A>T (p.Lys238Ter)
|
rs1953321100
|
|
NM_024312.5(GNPTAB):c.724C>T (p.Gln242Ter)
|
|
|
NM_024312.5(GNPTAB):c.733del (p.Thr245fs)
|
|
|
NM_024312.5(GNPTAB):c.745G>T (p.Glu249Ter)
|
|
|
NM_024312.5(GNPTAB):c.771+1G>C
|
rs1555271217
|
|
NM_024312.5(GNPTAB):c.771+2T>A
|
rs1555271215
|
|
NM_024312.5(GNPTAB):c.772-1G>C
|
rs2137125146
|
|
NM_024312.5(GNPTAB):c.772-1G>T
|
|
|
NM_024312.5(GNPTAB):c.772-2_786del
|
|
|
NM_024312.5(GNPTAB):c.804del (p.Leu268_Leu269insTer)
|
rs1555270428
|
|
NM_024312.5(GNPTAB):c.880G>T (p.Glu294Ter)
|
rs1953165554
|
|
NM_024312.5(GNPTAB):c.933+1G>A
|
|
|
NM_024312.5(GNPTAB):c.933+1G>T
|
rs1327876395
|
|
NM_024312.5(GNPTAB):c.993C>A (p.Tyr331Ter)
|
rs1953155445
|
|
NM_024312.5(GNPTAB):c.998T>A (p.Leu333Ter)
|
|
|