NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter)
|
rs397507447
|
0.00009
|
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr)
|
rs149390820
|
0.00006
|
NM_024312.5(GNPTAB):c.3335+6T>G
|
rs34788341
|
0.00005
|
NM_024312.5(GNPTAB):c.1001G>A (p.Arg334Gln)
|
rs281864970
|
0.00003
|
NM_024312.5(GNPTAB):c.3335+1G>A
|
rs34940801
|
0.00003
|
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter)
|
rs35878526
|
0.00003
|
NM_024312.5(GNPTAB):c.2354T>G (p.Leu785Trp)
|
rs144060383
|
0.00002
|
NM_024312.5(GNPTAB):c.2715+2T>G
|
rs281865001
|
0.00002
|
NM_024312.5(GNPTAB):c.377T>A (p.Leu126Ter)
|
rs774506925
|
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.1090C>T (p.Arg364Ter)
|
rs200646278
|
0.00001
|
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)
|
rs34159654
|
0.00001
|
NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu)
|
rs137852900
|
0.00001
|
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe)
|
rs281865026
|
0.00001
|
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr)
|
rs281864980
|
0.00001
|
NM_024312.5(GNPTAB):c.2072_2073insG (p.Glu692fs)
|
rs1043530261
|
0.00001
|
NM_024312.5(GNPTAB):c.2715+1G>A
|
rs281865031
|
0.00001
|
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys)
|
rs769587233
|
0.00001
|
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter)
|
rs281865009
|
0.00001
|
NM_024312.5(GNPTAB):c.310C>T (p.Gln104Ter)
|
rs137852896
|
0.00001
|
NM_024312.5(GNPTAB):c.322A>T (p.Arg108Ter)
|
rs770176191
|
0.00001
|
NM_024312.5(GNPTAB):c.325G>T (p.Glu109Ter)
|
rs377553632
|
0.00001
|
NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter)
|
rs142065232
|
0.00001
|
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)
|
rs137852897
|
0.00001
|
NM_024312.5(GNPTAB):c.613C>T (p.Gln205Ter)
|
rs1953327287
|
0.00001
|
NC_000012.11:g.(?_102140932)_(102224463_?)del
|
|
|
NC_000012.11:g.(?_102157970)_(102174409_?)del
|
|
|
NC_000012.11:g.(?_102173920)_(102174409_?)del
|
|
|
NC_000012.11:g.(?_102173920)_(102224463_?)del
|
|
|
NC_000012.11:g.(?_102190445)_(102190550_?)dup
|
|
|
NC_000012.12:g.(?_101747144)_(101796782_?)del
|
|
|
NM_024312.4(GNPTAB):c.118-?_203+?dup86
|
|
|
NM_024312.4(GNPTAB):c.1738TATA[3] (p.Ser581Ilefs)
|
rs34924076
|
|
NM_024312.4(GNPTAB):c.555_556ins296 (p.?)
|
|
|
NM_024312.4(GNPTAB):c.[2783A>G;2864C>T]]
|
|
|
NM_024312.4(GNPTAB):c.[3388_3389insC;3392C>T]
|
|
|
NM_024312.4(GNPTAB):c.[545T>A;614A>C]
|
|
|
NM_024312.4:c.750+3A>C
|
|
|
NM_024312.5(GNPTAB):c.*295T>C
|
|
|
NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs)
|
rs748809942
|
|
NM_024312.5(GNPTAB):c.1052dup (p.Asn351fs)
|
|
|
NM_024312.5(GNPTAB):c.1071G>A (p.Trp357Ter)
|
rs2137124017
|
|
NM_024312.5(GNPTAB):c.1122dup (p.Arg375fs)
|
rs2137123723
|
|
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro)
|
rs112543062
|
|
NM_024312.5(GNPTAB):c.118-1G>A
|
rs1301743166
|
|
NM_024312.5(GNPTAB):c.118-2A>G
|
rs281865023
|
|
NM_024312.5(GNPTAB):c.1186G>T (p.Glu396Ter)
|
rs1245543262
|
|
NM_024312.5(GNPTAB):c.1208T>C (p.Ile403Thr)
|
rs281864973
|
|
NM_024312.5(GNPTAB):c.1212C>G (p.Tyr404Ter)
|
|
|
NM_024312.5(GNPTAB):c.1220A>C (p.Asp407Ala)
|
rs137852895
|
|
NM_024312.5(GNPTAB):c.1246dup (p.Trp416fs)
|
|
|
NM_024312.5(GNPTAB):c.1247G>A (p.Trp416Ter)
|
rs1201536920
|
|
NM_024312.5(GNPTAB):c.1292T>A (p.Leu431Ter)
|
rs2137121384
|
|
NM_024312.5(GNPTAB):c.1298G>A (p.Trp433Ter)
|
rs398124397
|
|
NM_024312.5(GNPTAB):c.1345del (p.Asp449fs)
|
|
|
NM_024312.5(GNPTAB):c.1364C>T (p.Ala455Val)
|
|
|
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter)
|
rs78347057
|
|
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs)
|
rs397507448
|
|
NM_024312.5(GNPTAB):c.1408+1G>T
|
rs1060499680
|
|
NM_024312.5(GNPTAB):c.1409-1G>A
|
|
|
NM_024312.5(GNPTAB):c.1409-2A>G
|
rs1953092495
|
|
NM_024312.5(GNPTAB):c.1416_1420del (p.Ser472fs)
|
|
|
NM_024312.5(GNPTAB):c.142C>T (p.Gln48Ter)
|
|
|
NM_024312.5(GNPTAB):c.1450dup (p.Thr484fs)
|
|
|
NM_024312.5(GNPTAB):c.1452dup (p.Gly485fs)
|
|
|
NM_024312.5(GNPTAB):c.1467del (p.Gly490fs)
|
rs2137119229
|
|
NM_024312.5(GNPTAB):c.1471C>T (p.Gln491Ter)
|
|
|
NM_024312.5(GNPTAB):c.1479G>A (p.Trp493Ter)
|
|
|
NM_024312.5(GNPTAB):c.147C>G (p.Tyr49Ter)
|
|
|
NM_024312.5(GNPTAB):c.1491del (p.Gly498fs)
|
rs2137119177
|
|
NM_024312.5(GNPTAB):c.1495del (p.Gly498_Ile499insTer)
|
|
|
NM_024312.5(GNPTAB):c.1499del (p.Asn500fs)
|
rs2137119157
|
|
NM_024312.5(GNPTAB):c.1503_1521dup (p.Gly508delinsCysLeuLeuLeuTer)
|
rs2137119084
|
|
NM_024312.5(GNPTAB):c.1511del (p.Tyr504fs)
|
rs1479370932
|
|
NM_024312.5(GNPTAB):c.1519C>T (p.Gln507Ter)
|
rs281864981
|
|
NM_024312.5(GNPTAB):c.157_160del (p.Phe53fs)
|
rs794727302
|
|
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs)
|
rs36007394
|
|
NM_024312.5(GNPTAB):c.1609C>T (p.Gln537Ter)
|
|
|
NM_024312.5(GNPTAB):c.1624G>T (p.Glu542Ter)
|
rs2137118051
|
|
NM_024312.5(GNPTAB):c.1625_1626insC (p.Glu542fs)
|
rs281865027
|
|
NM_024312.5(GNPTAB):c.1665del (p.His554_Tyr555insTer)
|
|
|
NM_024312.5(GNPTAB):c.1701del (p.Phe568fs)
|
rs1594214799
|
|
NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter)
|
rs281864982
|
|
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro)
|
rs143788461
|
|
NM_024312.5(GNPTAB):c.178_179del (p.Ile60fs)
|
rs1869312922
|
|
NM_024312.5(GNPTAB):c.1858_1880del (p.Thr620fs)
|
|
|
NM_024312.5(GNPTAB):c.1871del (p.Glu624fs)
|
rs2137117586
|
|
NM_024312.5(GNPTAB):c.1905_1908del (p.Glu637fs)
|
rs1441014377
|
|
NM_024312.5(GNPTAB):c.1906del (p.Arg636fs)
|
rs747789493
|
|
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs)
|
rs747789493
|
|
NM_024312.5(GNPTAB):c.1936dup (p.Gln646fs)
|
rs2137117445
|
|
NM_024312.5(GNPTAB):c.1946dup (p.Tyr649Ter)
|
|
|
NM_024312.5(GNPTAB):c.1955T>G (p.Leu652Ter)
|
rs1953064841
|
|
NM_024312.5(GNPTAB):c.1956dup (p.Val653fs)
|
rs1953064795
|
|
NM_024312.5(GNPTAB):c.1959_1960del (p.Pro655fs)
|
rs1429181351
|
|
NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654fs)
|
rs281864983
|
|
NM_024312.5(GNPTAB):c.1965del (p.Pro655_Ile656insTer)
|
rs281864984
|
|
NM_024312.5(GNPTAB):c.1985C>G (p.Ala662Gly)
|
rs142172397
|
|
NM_024312.5(GNPTAB):c.2036dup (p.Arg680fs)
|
|
|
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs)
|
rs34901902
|
|
NM_024312.5(GNPTAB):c.2068dup (p.Gln690fs)
|
rs1953061755
|
|
NM_024312.5(GNPTAB):c.2098dup (p.Ile700fs)
|
rs2137117072
|
|
NM_024312.5(GNPTAB):c.2115del (p.Asp706fs)
|
|
|
NM_024312.5(GNPTAB):c.2174T>A (p.Leu725Ter)
|
|
|
NM_024312.5(GNPTAB):c.2188delinsAAA (p.Leu730fs)
|
rs34161232
|
|
NM_024312.5(GNPTAB):c.2204del (p.Leu735fs)
|
|
|
NM_024312.5(GNPTAB):c.2213C>A (p.Ser738Ter)
|
rs1298654156
|
|
NM_024312.5(GNPTAB):c.2216_2217del (p.Phe739fs)
|
rs2137116846
|
|
NM_024312.5(GNPTAB):c.2250del (p.Gln751fs)
|
rs1953058345
|
|
NM_024312.5(GNPTAB):c.2269_2273del (p.Glu757fs)
|
|
|
NM_024312.5(GNPTAB):c.2285del (p.Leu762fs)
|
|
|
NM_024312.5(GNPTAB):c.22A>G (p.Arg8Gly)
|
rs1594269995
|
|
NM_024312.5(GNPTAB):c.2303_2306del (p.Lys768fs)
|
rs2137116678
|
|
NM_024312.5(GNPTAB):c.2305C>T (p.Gln769Ter)
|
|
|
NM_024312.5(GNPTAB):c.2308del (p.Val770fs)
|
rs1953057183
|
|
NM_024312.5(GNPTAB):c.2334_2338del (p.Ser778fs)
|
rs779474781
|
|
NM_024312.5(GNPTAB):c.2350del (p.Arg784fs)
|
rs2137116566
|
|
NM_024312.5(GNPTAB):c.2363T>A (p.Leu788Ter)
|
|
|
NM_024312.5(GNPTAB):c.2388del (p.Lys796_Val797insTer)
|
|
|
NM_024312.5(GNPTAB):c.2404C>T (p.Gln802Ter)
|
rs1310955639
|
|
NM_024312.5(GNPTAB):c.2404del (p.Gln802fs)
|
|
|
NM_024312.5(GNPTAB):c.2423del (p.Leu808fs)
|
rs2137116390
|
|
NM_024312.5(GNPTAB):c.2455del (p.Glu819fs)
|
rs1594213713
|
|
NM_024312.5(GNPTAB):c.2467C>T (p.Gln823Ter)
|
|
|
NM_024312.5(GNPTAB):c.2497G>T (p.Glu833Ter)
|
|
|
NM_024312.5(GNPTAB):c.2498_2502del (p.Glu833fs)
|
rs1953053436
|
|
NM_024312.5(GNPTAB):c.249_267dup (p.Leu90delinsTrpHisArgSerTer)
|
|
|
NM_024312.5(GNPTAB):c.2502del (p.Lys834fs)
|
|
|
NM_024312.5(GNPTAB):c.2515_2518del (p.Ile839fs)
|
rs1953052904
|
|
NM_024312.5(GNPTAB):c.2533C>T (p.Gln845Ter)
|
rs281865028
|
|
NM_024312.5(GNPTAB):c.2541_2544del (p.Glu849fs)
|
|
|
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs)
|
rs281864996
|
|
NM_024312.5(GNPTAB):c.2574_2575del (p.Asn859fs)
|
rs281865029
|
|
NM_024312.5(GNPTAB):c.2590dup (p.Glu864fs)
|
rs2137116089
|
|
NM_024312.5(GNPTAB):c.25C>T (p.Gln9Ter)
|
rs1871323854
|
|
NM_024312.5(GNPTAB):c.2617dup (p.Thr873fs)
|
rs752874974
|
|
NM_024312.5(GNPTAB):c.2654_2655del (p.Thr885fs)
|
rs2137115961
|
|
NM_024312.5(GNPTAB):c.2657_2660del (p.Asp886fs)
|
rs2137115943
|
|
NM_024312.5(GNPTAB):c.2659dup (p.Ser887fs)
|
rs281865030
|
|
NM_024312.5(GNPTAB):c.2666del (p.Leu889fs)
|
|
|
NM_024312.5(GNPTAB):c.2675del (p.Leu892fs)
|
rs1555269488
|
|
NM_024312.5(GNPTAB):c.2681G>A (p.Trp894Ter)
|
rs137852899
|
|
NM_024312.5(GNPTAB):c.2682G>A (p.Trp894Ter)
|
rs779927550
|
|
NM_024312.5(GNPTAB):c.2684dup (p.Lys896fs)
|
|
|
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs)
|
rs281864999
|
|
NM_024312.5(GNPTAB):c.2693dup (p.Tyr899fs)
|
rs281864999
|
|
NM_024312.5(GNPTAB):c.269del (p.Leu90fs)
|
rs2137150220
|
|
NM_024312.5(GNPTAB):c.2701C>T (p.Gln901Ter)
|
|
|
NM_024312.5(GNPTAB):c.2737C>T (p.Gln913Ter)
|
|
|
NM_024312.5(GNPTAB):c.2737_2738del (p.Gln913fs)
|
rs2137113019
|
|
NM_024312.5(GNPTAB):c.2748C>G (p.Tyr916Ter)
|
|
|
NM_024312.5(GNPTAB):c.2757_2758del (p.Asp919fs)
|
rs757574720
|
|
NM_024312.5(GNPTAB):c.280C>T (p.Gln94Ter)
|
rs1391863896
|
|
NM_024312.5(GNPTAB):c.2849C>A (p.Ser950Ter)
|
|
|
NM_024312.5(GNPTAB):c.2868_2869del (p.Met957fs)
|
rs2137112755
|
|
NM_024312.5(GNPTAB):c.2908C>T (p.Gln970Ter)
|
rs1952995212
|
|
NM_024312.5(GNPTAB):c.2918dup (p.Pro974_Glu975insTer)
|
rs281865032
|
|
NM_024312.5(GNPTAB):c.2923del (p.Glu975fs)
|
rs2137112309
|
|
NM_024312.5(GNPTAB):c.2935_2939del (p.Lys979fs)
|
|
|
NM_024312.5(GNPTAB):c.2936_2943del (p.Lys979fs)
|
|
|
NM_024312.5(GNPTAB):c.2972dup (p.Met991fs)
|
|
|
NM_024312.5(GNPTAB):c.2974C>T (p.Gln992Ter)
|
|
|
NM_024312.5(GNPTAB):c.2980_2983del (p.Ala994fs)
|
rs1952989025
|
|
NM_024312.5(GNPTAB):c.2991T>G (p.Tyr997Ter)
|
rs1952988471
|
|
NM_024312.5(GNPTAB):c.29_32dup (p.Thr12fs)
|
rs2137197827
|
|
NM_024312.5(GNPTAB):c.2T>C (p.Met1Thr)
|
|
|
NM_024312.5(GNPTAB):c.3014_3018dup (p.Pro1007fs)
|
|
|
NM_024312.5(GNPTAB):c.3016C>T (p.Gln1006Ter)
|
rs1952987753
|
|
NM_024312.5(GNPTAB):c.3034C>T (p.Gln1012Ter)
|
rs2137112043
|
|
NM_024312.5(GNPTAB):c.3085_3086del (p.Glu1029fs)
|
|
|
NM_024312.5(GNPTAB):c.3094del (p.Thr1032fs)
|
rs1594210760
|
|
NM_024312.5(GNPTAB):c.3098T>C (p.Leu1033Pro)
|
rs1594210754
|
|
NM_024312.5(GNPTAB):c.3098dup (p.Ala1034fs)
|
|
|
NM_024312.5(GNPTAB):c.3100del (p.Ala1034fs)
|
rs2137111897
|
|
NM_024312.5(GNPTAB):c.3145_3146insC (p.Gly1049fs)
|
rs281865033
|
|
NM_024312.5(GNPTAB):c.3159dup (p.Leu1054fs)
|
|
|
NM_024312.5(GNPTAB):c.3173C>G (p.Ser1058Ter)
|
rs137852898
|
|
NM_024312.5(GNPTAB):c.3199C>T (p.Gln1067Ter)
|
|
|
NM_024312.5(GNPTAB):c.31dup (p.Tyr11fs)
|
|
|
NM_024312.5(GNPTAB):c.3231_3234dup (p.Tyr1079fs)
|
rs34256381
|
|
NM_024312.5(GNPTAB):c.3249+1G>A
|
rs281865012
|
|
NM_024312.5(GNPTAB):c.3250-2A>G
|
rs875989952
|
|
NM_024312.5(GNPTAB):c.3252del (p.Pro1085fs)
|
rs281865035
|
|
NM_024312.5(GNPTAB):c.3273_3280del (p.Val1091_Thr1092insTer)
|
|
|
NM_024312.5(GNPTAB):c.3300_3301del (p.Lys1100fs)
|
rs1394425220
|
|
NM_024312.5(GNPTAB):c.3326dup (p.Asn1109fs)
|
rs797044663
|
|
NM_024312.5(GNPTAB):c.3336-1G>C
|
rs397507562
|
|
NM_024312.5(GNPTAB):c.3345del (p.Met1116fs)
|
rs2137106725
|
|
NM_024312.5(GNPTAB):c.3369del (p.Phe1123fs)
|
|
|
NM_024312.5(GNPTAB):c.3428dup (p.Asn1143fs)
|
rs281865017
|
|
NM_024312.5(GNPTAB):c.3434+1G>A
|
rs281865036
|
|
NM_024312.5(GNPTAB):c.3435-1G>A
|
rs281865037
|
|
NM_024312.5(GNPTAB):c.3443_3446del (p.Val1148fs)
|
rs281865018
|
|
NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs)
|
rs281864954
|
|
NM_024312.5(GNPTAB):c.3474_3475del (p.His1158fs)
|
rs281865038
|
|
NM_024312.5(GNPTAB):c.3488del (p.Thr1163fs)
|
rs1566067386
|
|
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
|
rs34002892
|
|
NM_024312.5(GNPTAB):c.3541C>T (p.Gln1181Ter)
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rs1257678960
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NM_024312.5(GNPTAB):c.3552del (p.Pro1185fs)
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NM_024312.5(GNPTAB):c.3560_3561del (p.Glu1187fs)
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rs781689303
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NM_024312.5(GNPTAB):c.3569del (p.Asn1190fs)
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NM_024312.5(GNPTAB):c.3569dup (p.Asn1190fs)
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rs281865039
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NM_024312.5(GNPTAB):c.3595C>T (p.Gln1199Ter)
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NM_024312.5(GNPTAB):c.3598G>T (p.Glu1200Ter)
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NM_024312.5(GNPTAB):c.3602G>A (p.Trp1201Ter)
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rs1952850511
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NM_024312.5(GNPTAB):c.3603-1G>A
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rs35576380
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NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter)
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rs35333334
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NM_024312.5(GNPTAB):c.3621del (p.Lys1207fs)
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NM_024312.5(GNPTAB):c.3653del (p.Thr1218fs)
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rs2137097782
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NM_024312.5(GNPTAB):c.3741_3744del (p.Glu1248fs)
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rs281865022
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NM_024312.5(GNPTAB):c.3G>C (p.Met1Ile)
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rs752247255
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NM_024312.5(GNPTAB):c.441del (p.Asn148fs)
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rs281864955
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NM_024312.5(GNPTAB):c.484del (p.His162fs)
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NM_024312.5(GNPTAB):c.518del (p.Pro173fs)
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rs2137144428
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NM_024312.5(GNPTAB):c.524dup (p.Asn175fs)
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NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val)
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rs34946266
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NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs)
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rs281865024
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NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs)
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rs281864963
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NM_024312.5(GNPTAB):c.728del (p.Leu243fs)
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NM_024312.5(GNPTAB):c.732_733del (p.Lys244fs)
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rs398124400
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NM_024312.5(GNPTAB):c.749dup (p.Asn250fs)
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rs281864964
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NM_024312.5(GNPTAB):c.766A>T (p.Lys256Ter)
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NM_024312.5(GNPTAB):c.775C>T (p.Gln259Ter)
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rs1566078120
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NM_024312.5(GNPTAB):c.780_895delinsTTTTTATTATGGGAT (p.Leu260fs)
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NM_024312.5(GNPTAB):c.831del (p.Gln278fs)
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NM_024312.5(GNPTAB):c.835G>T (p.Glu279Ter)
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NM_024312.5(GNPTAB):c.839del (p.Glu279_Leu280insTer)
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NM_024312.5(GNPTAB):c.850del (p.Thr284fs)
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rs34517004
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NM_024312.5(GNPTAB):c.880G>T (p.Glu294Ter)
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rs1953165554
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NM_024312.5(GNPTAB):c.888del (p.Thr296_Ile297insTer)
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NM_024312.5(GNPTAB):c.88_89del (p.Thr30fs)
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rs753382639
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NM_024312.5(GNPTAB):c.890dup (p.Ser298fs)
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rs1953165224
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NM_024312.5(GNPTAB):c.905_908del (p.Leu302fs)
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NM_024312.5(GNPTAB):c.991del (p.Tyr331fs)
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rs1953155498
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NM_024312.5(GNPTAB):c.993C>A (p.Tyr331Ter)
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rs1953155445
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NM_024312.5(GNPTAB):c.99del (p.Ala34fs)
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rs1408113895
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NM_024312.5(GNPTAB):c.[2715+1G>A;2980_2983del]
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