Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.101081555A=CA2114388838NALCNc.3857T= (p.Val1286=)
c.3578T= (p.Val1193=)
c.3944T= (p.Val1315=)
c.3770T= (p.Val1257=)
c.3914T= (p.Val1305=)
c.3827T= (p.Val1276=)
c.3635T= (p.Val1212=)
c.3410T= (p.Val1137=)
c.3092T= (p.Val1031=)
c.4001T= (p.Val1334=)
13g.101081555A>CCA388650203NALCNc.3857T>G (p.Val1286Gly)
c.3578T>G (p.Val1193Gly)
c.3944T>G (p.Val1315Gly)
c.3770T>G (p.Val1257Gly)
c.3914T>G (p.Val1305Gly)
c.3827T>G (p.Val1276Gly)
c.3635T>G (p.Val1212Gly)
c.3410T>G (p.Val1137Gly)
c.3092T>G (p.Val1031Gly)
c.4001T>G (p.Val1334Gly)
13g.101081555A>GCA255407075NALCNc.3857T>C (p.Val1286Ala)
c.3578T>C (p.Val1193Ala)
c.3944T>C (p.Val1315Ala)
c.3770T>C (p.Val1257Ala)
c.3914T>C (p.Val1305Ala)
c.3827T>C (p.Val1276Ala)
c.3635T>C (p.Val1212Ala)
c.3410T>C (p.Val1137Ala)
c.3092T>C (p.Val1031Ala)
c.4001T>C (p.Val1334Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.101081555A>TCA388650205NALCNc.3857T>A (p.Val1286Glu)
c.3578T>A (p.Val1193Glu)
c.3944T>A (p.Val1315Glu)
c.3770T>A (p.Val1257Glu)
c.3914T>A (p.Val1305Glu)
c.3827T>A (p.Val1276Glu)
c.3635T>A (p.Val1212Glu)
c.3410T>A (p.Val1137Glu)
c.3092T>A (p.Val1031Glu)
c.4001T>A (p.Val1334Glu)
13g.101081556C>ACA388650208NALCNc.3856G>T (p.Val1286Leu)
c.3577G>T (p.Val1193Leu)
c.3943G>T (p.Val1315Leu)
c.3769G>T (p.Val1257Leu)
c.3913G>T (p.Val1305Leu)
c.3826G>T (p.Val1276Leu)
c.3634G>T (p.Val1212Leu)
c.3409G>T (p.Val1137Leu)
c.3091G>T (p.Val1031Leu)
c.4000G>T (p.Val1334Leu)
13g.101081556C=CA2114388839NALCNc.3856G= (p.Val1286=)
c.3577G= (p.Val1193=)
c.3943G= (p.Val1315=)
c.3769G= (p.Val1257=)
c.3913G= (p.Val1305=)
c.3826G= (p.Val1276=)
c.3634G= (p.Val1212=)
c.3409G= (p.Val1137=)
c.3091G= (p.Val1031=)
c.4000G= (p.Val1334=)
13g.101081556C>GCA388650209NALCNc.3856G>C (p.Val1286Leu)
c.3577G>C (p.Val1193Leu)
c.3943G>C (p.Val1315Leu)
c.3769G>C (p.Val1257Leu)
c.3913G>C (p.Val1305Leu)
c.3826G>C (p.Val1276Leu)
c.3634G>C (p.Val1212Leu)
c.3409G>C (p.Val1137Leu)
c.3091G>C (p.Val1031Leu)
c.4000G>C (p.Val1334Leu)
dbSNP
13g.101081556C>TCA388650211NALCNc.3856G>A (p.Val1286Ile)
c.3577G>A (p.Val1193Ile)
c.3943G>A (p.Val1315Ile)
c.3769G>A (p.Val1257Ile)
c.3913G>A (p.Val1305Ile)
c.3826G>A (p.Val1276Ile)
c.3634G>A (p.Val1212Ile)
c.3409G>A (p.Val1137Ile)
c.3091G>A (p.Val1031Ile)
c.4000G>A (p.Val1334Ile)
13g.101081557A=CA2114388840NALCNc.3855T= (p.Val1285=)
c.3576T= (p.Val1192=)
c.3942T= (p.Val1314=)
c.3768T= (p.Val1256=)
c.3912T= (p.Val1304=)
c.3825T= (p.Val1275=)
c.3633T= (p.Val1211=)
c.3408T= (p.Val1136=)
c.3090T= (p.Val1030=)
c.3999T= (p.Val1333=)
13g.101081557A>CCA7035276NALCNc.3855T>G (p.Val1285=)
c.3576T>G (p.Val1192=)
c.3942T>G (p.Val1314=)
c.3768T>G (p.Val1256=)
c.3912T>G (p.Val1304=)
c.3825T>G (p.Val1275=)
c.3633T>G (p.Val1211=)
c.3408T>G (p.Val1136=)
c.3090T>G (p.Val1030=)
c.3999T>G (p.Val1333=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.101081557A>GCA484551915NALCNc.3855T>C (p.Val1285=)
c.3576T>C (p.Val1192=)
c.3942T>C (p.Val1314=)
c.3768T>C (p.Val1256=)
c.3912T>C (p.Val1304=)
c.3825T>C (p.Val1275=)
c.3633T>C (p.Val1211=)
c.3408T>C (p.Val1136=)
c.3090T>C (p.Val1030=)
c.3999T>C (p.Val1333=)
13g.101081557A>TCA484551919NALCNc.3855T>A (p.Val1285=)
c.3576T>A (p.Val1192=)
c.3942T>A (p.Val1314=)
c.3768T>A (p.Val1256=)
c.3912T>A (p.Val1304=)
c.3825T>A (p.Val1275=)
c.3633T>A (p.Val1211=)
c.3408T>A (p.Val1136=)
c.3090T>A (p.Val1030=)
c.3999T>A (p.Val1333=)
13g.101081558A>CCA388650214NALCNc.3854T>G (p.Val1285Gly)
c.3575T>G (p.Val1192Gly)
c.3941T>G (p.Val1314Gly)
c.3767T>G (p.Val1256Gly)
c.3911T>G (p.Val1304Gly)
c.3824T>G (p.Val1275Gly)
c.3632T>G (p.Val1211Gly)
c.3407T>G (p.Val1136Gly)
c.3089T>G (p.Val1030Gly)
c.3998T>G (p.Val1333Gly)
13g.101081558A>GCA388650215NALCNc.3854T>C (p.Val1285Ala)
c.3575T>C (p.Val1192Ala)
c.3941T>C (p.Val1314Ala)
c.3767T>C (p.Val1256Ala)
c.3911T>C (p.Val1304Ala)
c.3824T>C (p.Val1275Ala)
c.3632T>C (p.Val1211Ala)
c.3407T>C (p.Val1136Ala)
c.3089T>C (p.Val1030Ala)
c.3998T>C (p.Val1333Ala)
13g.101081558A>TCA388650216NALCNc.3854T>A (p.Val1285Asp)
c.3575T>A (p.Val1192Asp)
c.3941T>A (p.Val1314Asp)
c.3767T>A (p.Val1256Asp)
c.3911T>A (p.Val1304Asp)
c.3824T>A (p.Val1275Asp)
c.3632T>A (p.Val1211Asp)
c.3407T>A (p.Val1136Asp)
c.3089T>A (p.Val1030Asp)
c.3998T>A (p.Val1333Asp)
13g.101081559C>ACA388650217NALCNc.3853G>T (p.Val1285Phe)
c.3574G>T (p.Val1192Phe)
c.3940G>T (p.Val1314Phe)
c.3766G>T (p.Val1256Phe)
c.3910G>T (p.Val1304Phe)
c.3823G>T (p.Val1275Phe)
c.3631G>T (p.Val1211Phe)
c.3406G>T (p.Val1136Phe)
c.3088G>T (p.Val1030Phe)
c.3997G>T (p.Val1333Phe)
13g.101081559C=CA2114388841NALCNc.3853G= (p.Val1285=)
c.3574G= (p.Val1192=)
c.3940G= (p.Val1314=)
c.3766G= (p.Val1256=)
c.3910G= (p.Val1304=)
c.3823G= (p.Val1275=)
c.3631G= (p.Val1211=)
c.3406G= (p.Val1136=)
c.3088G= (p.Val1030=)
c.3997G= (p.Val1333=)
13g.101081559C>GCA388650218NALCNc.3853G>C (p.Val1285Leu)
c.3574G>C (p.Val1192Leu)
c.3940G>C (p.Val1314Leu)
c.3766G>C (p.Val1256Leu)
c.3910G>C (p.Val1304Leu)
c.3823G>C (p.Val1275Leu)
c.3631G>C (p.Val1211Leu)
c.3406G>C (p.Val1136Leu)
c.3088G>C (p.Val1030Leu)
c.3997G>C (p.Val1333Leu)
13g.101081559C>TCA7035277NALCNc.3853G>A (p.Val1285Ile)
c.3574G>A (p.Val1192Ile)
c.3940G>A (p.Val1314Ile)
c.3766G>A (p.Val1256Ile)
c.3910G>A (p.Val1304Ile)
c.3823G>A (p.Val1275Ile)
c.3631G>A (p.Val1211Ile)
c.3406G>A (p.Val1136Ile)
c.3088G>A (p.Val1030Ile)
c.3997G>A (p.Val1333Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.101081560G>ACA7035279NALCNc.3852C>T (p.Gly1284=)
c.3573C>T (p.Gly1191=)
c.3939C>T (p.Gly1313=)
c.3765C>T (p.Gly1255=)
c.3909C>T (p.Gly1303=)
c.3822C>T (p.Gly1274=)
c.3630C>T (p.Gly1210=)
c.3405C>T (p.Gly1135=)
c.3087C>T (p.Gly1029=)
c.3996C>T (p.Gly1332=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.101081560G>CCA484551935NALCNc.3852C>G (p.Gly1284=)
c.3573C>G (p.Gly1191=)
c.3939C>G (p.Gly1313=)
c.3765C>G (p.Gly1255=)
c.3909C>G (p.Gly1303=)
c.3822C>G (p.Gly1274=)
c.3630C>G (p.Gly1210=)
c.3405C>G (p.Gly1135=)
c.3087C>G (p.Gly1029=)
c.3996C>G (p.Gly1332=)
gnomAD v4
13g.101081560G=CA2114388842NALCNc.3852C= (p.Gly1284=)
c.3573C= (p.Gly1191=)
c.3939C= (p.Gly1313=)
c.3765C= (p.Gly1255=)
c.3909C= (p.Gly1303=)
c.3822C= (p.Gly1274=)
c.3630C= (p.Gly1210=)
c.3405C= (p.Gly1135=)
c.3087C= (p.Gly1029=)
c.3996C= (p.Gly1332=)
13g.101081560G>TCA7035278NALCNc.3852C>A (p.Gly1284=)
c.3573C>A (p.Gly1191=)
c.3939C>A (p.Gly1313=)
c.3765C>A (p.Gly1255=)
c.3909C>A (p.Gly1303=)
c.3822C>A (p.Gly1274=)
c.3630C>A (p.Gly1210=)
c.3405C>A (p.Gly1135=)
c.3087C>A (p.Gly1029=)
c.3996C>A (p.Gly1332=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.101081561C>ACA388650223NALCNc.3851G>T (p.Gly1284Val)
c.3572G>T (p.Gly1191Val)
c.3938G>T (p.Gly1313Val)
c.3764G>T (p.Gly1255Val)
c.3908G>T (p.Gly1303Val)
c.3821G>T (p.Gly1274Val)
c.3629G>T (p.Gly1210Val)
c.3404G>T (p.Gly1135Val)
c.3086G>T (p.Gly1029Val)
c.3995G>T (p.Gly1332Val)
13g.101081561C>GCA388650226NALCNc.3851G>C (p.Gly1284Ala)
c.3572G>C (p.Gly1191Ala)
c.3938G>C (p.Gly1313Ala)
c.3764G>C (p.Gly1255Ala)
c.3908G>C (p.Gly1303Ala)
c.3821G>C (p.Gly1274Ala)
c.3629G>C (p.Gly1210Ala)
c.3404G>C (p.Gly1135Ala)
c.3086G>C (p.Gly1029Ala)
c.3995G>C (p.Gly1332Ala)
13g.101081561C>TCA388650224NALCNc.3851G>A (p.Gly1284Asp)
c.3572G>A (p.Gly1191Asp)
c.3938G>A (p.Gly1313Asp)
c.3764G>A (p.Gly1255Asp)
c.3908G>A (p.Gly1303Asp)
c.3821G>A (p.Gly1274Asp)
c.3629G>A (p.Gly1210Asp)
c.3404G>A (p.Gly1135Asp)
c.3086G>A (p.Gly1029Asp)
c.3995G>A (p.Gly1332Asp)
13g.101081562C>ACA388650229NALCNc.3850G>T (p.Gly1284Cys)
c.3571G>T (p.Gly1191Cys)
c.3937G>T (p.Gly1313Cys)
c.3763G>T (p.Gly1255Cys)
c.3907G>T (p.Gly1303Cys)
c.3820G>T (p.Gly1274Cys)
c.3628G>T (p.Gly1210Cys)
c.3403G>T (p.Gly1135Cys)
c.3085G>T (p.Gly1029Cys)
c.3994G>T (p.Gly1332Cys)
13g.101081562C>GCA388650230NALCNc.3850G>C (p.Gly1284Arg)
c.3571G>C (p.Gly1191Arg)
c.3937G>C (p.Gly1313Arg)
c.3763G>C (p.Gly1255Arg)
c.3907G>C (p.Gly1303Arg)
c.3820G>C (p.Gly1274Arg)
c.3628G>C (p.Gly1210Arg)
c.3403G>C (p.Gly1135Arg)
c.3085G>C (p.Gly1029Arg)
c.3994G>C (p.Gly1332Arg)
13g.101081562C>TCA388650231NALCNc.3850G>A (p.Gly1284Ser)
c.3571G>A (p.Gly1191Ser)
c.3937G>A (p.Gly1313Ser)
c.3763G>A (p.Gly1255Ser)
c.3907G>A (p.Gly1303Ser)
c.3820G>A (p.Gly1274Ser)
c.3628G>A (p.Gly1210Ser)
c.3403G>A (p.Gly1135Ser)
c.3085G>A (p.Gly1029Ser)
c.3994G>A (p.Gly1332Ser)
13g.101081563A=CA2114388843NALCNc.3849T= (p.Leu1283=)
c.3570T= (p.Leu1190=)
c.3936T= (p.Leu1312=)
c.3762T= (p.Leu1254=)
c.3906T= (p.Leu1302=)
c.3819T= (p.Leu1273=)
c.3627T= (p.Leu1209=)
c.3402T= (p.Leu1134=)
c.3084T= (p.Leu1028=)
c.3993T= (p.Leu1331=)
13g.101081563A>CCA7035280NALCNc.3849T>G (p.Leu1283=)
c.3570T>G (p.Leu1190=)
c.3936T>G (p.Leu1312=)
c.3762T>G (p.Leu1254=)
c.3906T>G (p.Leu1302=)
c.3819T>G (p.Leu1273=)
c.3627T>G (p.Leu1209=)
c.3402T>G (p.Leu1134=)
c.3084T>G (p.Leu1028=)
c.3993T>G (p.Leu1331=)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.101081563A>GCA484551953NALCNc.3849T>C (p.Leu1283=)
c.3570T>C (p.Leu1190=)
c.3936T>C (p.Leu1312=)
c.3762T>C (p.Leu1254=)
c.3906T>C (p.Leu1302=)
c.3819T>C (p.Leu1273=)
c.3627T>C (p.Leu1209=)
c.3402T>C (p.Leu1134=)
c.3084T>C (p.Leu1028=)
c.3993T>C (p.Leu1331=)
13g.101081563A>TCA484551956NALCNc.3849T>A (p.Leu1283=)
c.3570T>A (p.Leu1190=)
c.3936T>A (p.Leu1312=)
c.3762T>A (p.Leu1254=)
c.3906T>A (p.Leu1302=)
c.3819T>A (p.Leu1273=)
c.3627T>A (p.Leu1209=)
c.3402T>A (p.Leu1134=)
c.3084T>A (p.Leu1028=)
c.3993T>A (p.Leu1331=)
13g.101081564A>CCA388650234NALCNc.3848T>G (p.Leu1283Arg)
c.3569T>G (p.Leu1190Arg)
c.3935T>G (p.Leu1312Arg)
c.3761T>G (p.Leu1254Arg)
c.3905T>G (p.Leu1302Arg)
c.3818T>G (p.Leu1273Arg)
c.3626T>G (p.Leu1209Arg)
c.3401T>G (p.Leu1134Arg)
c.3083T>G (p.Leu1028Arg)
c.3992T>G (p.Leu1331Arg)
13g.101081564A>GCA388650236NALCNc.3848T>C (p.Leu1283Pro)
c.3569T>C (p.Leu1190Pro)
c.3935T>C (p.Leu1312Pro)
c.3761T>C (p.Leu1254Pro)
c.3905T>C (p.Leu1302Pro)
c.3818T>C (p.Leu1273Pro)
c.3626T>C (p.Leu1209Pro)
c.3401T>C (p.Leu1134Pro)
c.3083T>C (p.Leu1028Pro)
c.3992T>C (p.Leu1331Pro)
13g.101081564A>TCA388650238NALCNc.3848T>A (p.Leu1283His)
c.3569T>A (p.Leu1190His)
c.3935T>A (p.Leu1312His)
c.3761T>A (p.Leu1254His)
c.3905T>A (p.Leu1302His)
c.3818T>A (p.Leu1273His)
c.3626T>A (p.Leu1209His)
c.3401T>A (p.Leu1134His)
c.3083T>A (p.Leu1028His)
c.3992T>A (p.Leu1331His)
13g.101081565G>ACA388650240NALCNc.3847C>T (p.Leu1283Phe)
c.3568C>T (p.Leu1190Phe)
c.3934C>T (p.Leu1312Phe)
c.3760C>T (p.Leu1254Phe)
c.3904C>T (p.Leu1302Phe)
c.3817C>T (p.Leu1273Phe)
c.3625C>T (p.Leu1209Phe)
c.3400C>T (p.Leu1134Phe)
c.3082C>T (p.Leu1028Phe)
c.3991C>T (p.Leu1331Phe)
gnomAD v4
13g.101081565G>CCA388650243NALCNc.3847C>G (p.Leu1283Val)
c.3568C>G (p.Leu1190Val)
c.3934C>G (p.Leu1312Val)
c.3760C>G (p.Leu1254Val)
c.3904C>G (p.Leu1302Val)
c.3817C>G (p.Leu1273Val)
c.3625C>G (p.Leu1209Val)
c.3400C>G (p.Leu1134Val)
c.3082C>G (p.Leu1028Val)
c.3991C>G (p.Leu1331Val)
13g.101081565G>TCA388650242NALCNc.3847C>A (p.Leu1283Ile)
c.3568C>A (p.Leu1190Ile)
c.3934C>A (p.Leu1312Ile)
c.3760C>A (p.Leu1254Ile)
c.3904C>A (p.Leu1302Ile)
c.3817C>A (p.Leu1273Ile)
c.3625C>A (p.Leu1209Ile)
c.3400C>A (p.Leu1134Ile)
c.3082C>A (p.Leu1028Ile)
c.3991C>A (p.Leu1331Ile)
13g.101081566C>ACA484551972NALCNc.3846G>T (p.Ser1282=)
c.3567G>T (p.Ser1189=)
c.3933G>T (p.Ser1311=)
c.3759G>T (p.Ser1253=)
c.3903G>T (p.Ser1301=)
c.3816G>T (p.Ser1272=)
c.3624G>T (p.Ser1208=)
c.3399G>T (p.Ser1133=)
c.3081G>T (p.Ser1027=)
c.3990G>T (p.Ser1330=)
dbSNP gnomAD v3 gnomAD v4
13g.101081566C=CA2114388844NALCNc.3846G= (p.Ser1282=)
c.3567G= (p.Ser1189=)
c.3933G= (p.Ser1311=)
c.3759G= (p.Ser1253=)
c.3903G= (p.Ser1301=)
c.3816G= (p.Ser1272=)
c.3624G= (p.Ser1208=)
c.3399G= (p.Ser1133=)
c.3081G= (p.Ser1027=)
c.3990G= (p.Ser1330=)
13g.101081566C>GCA484551976NALCNc.3846G>C (p.Ser1282=)
c.3567G>C (p.Ser1189=)
c.3933G>C (p.Ser1311=)
c.3759G>C (p.Ser1253=)
c.3903G>C (p.Ser1301=)
c.3816G>C (p.Ser1272=)
c.3624G>C (p.Ser1208=)
c.3399G>C (p.Ser1133=)
c.3081G>C (p.Ser1027=)
c.3990G>C (p.Ser1330=)
13g.101081566C>TCA7035281NALCNc.3846G>A (p.Ser1282=)
c.3567G>A (p.Ser1189=)
c.3933G>A (p.Ser1311=)
c.3759G>A (p.Ser1253=)
c.3903G>A (p.Ser1301=)
c.3816G>A (p.Ser1272=)
c.3624G>A (p.Ser1208=)
c.3399G>A (p.Ser1133=)
c.3081G>A (p.Ser1027=)
c.3990G>A (p.Ser1330=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.101081567G>ACA7035282NALCNc.3845C>T (p.Ser1282Leu)
c.3566C>T (p.Ser1189Leu)
c.3932C>T (p.Ser1311Leu)
c.3758C>T (p.Ser1253Leu)
c.3902C>T (p.Ser1301Leu)
c.3815C>T (p.Ser1272Leu)
c.3623C>T (p.Ser1208Leu)
c.3398C>T (p.Ser1133Leu)
c.3080C>T (p.Ser1027Leu)
c.3989C>T (p.Ser1330Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.101081567G>CCA388650246NALCNc.3845C>G (p.Ser1282Trp)
c.3566C>G (p.Ser1189Trp)
c.3932C>G (p.Ser1311Trp)
c.3758C>G (p.Ser1253Trp)
c.3902C>G (p.Ser1301Trp)
c.3815C>G (p.Ser1272Trp)
c.3623C>G (p.Ser1208Trp)
c.3398C>G (p.Ser1133Trp)
c.3080C>G (p.Ser1027Trp)
c.3989C>G (p.Ser1330Trp)
13g.101081567G=CA2114388845NALCNc.3845C= (p.Ser1282=)
c.3566C= (p.Ser1189=)
c.3932C= (p.Ser1311=)
c.3758C= (p.Ser1253=)
c.3902C= (p.Ser1301=)
c.3815C= (p.Ser1272=)
c.3623C= (p.Ser1208=)
c.3398C= (p.Ser1133=)
c.3080C= (p.Ser1027=)
c.3989C= (p.Ser1330=)
13g.101081567G>TCA388650248NALCNc.3845C>A (p.Ser1282Ter)
c.3566C>A (p.Ser1189Ter)
c.3932C>A (p.Ser1311Ter)
c.3758C>A (p.Ser1253Ter)
c.3902C>A (p.Ser1301Ter)
c.3815C>A (p.Ser1272Ter)
c.3623C>A (p.Ser1208Ter)
c.3398C>A (p.Ser1133Ter)
c.3080C>A (p.Ser1027Ter)
c.3989C>A (p.Ser1330Ter)
dbSNP gnomAD v2
13g.101081568A>CCA388650250NALCNc.3844T>G (p.Ser1282Ala)
c.3565T>G (p.Ser1189Ala)
c.3931T>G (p.Ser1311Ala)
c.3757T>G (p.Ser1253Ala)
c.3901T>G (p.Ser1301Ala)
c.3814T>G (p.Ser1272Ala)
c.3622T>G (p.Ser1208Ala)
c.3397T>G (p.Ser1133Ala)
c.3079T>G (p.Ser1027Ala)
c.3988T>G (p.Ser1330Ala)
13g.101081568A>GCA388650252NALCNc.3844T>C (p.Ser1282Pro)
c.3565T>C (p.Ser1189Pro)
c.3931T>C (p.Ser1311Pro)
c.3757T>C (p.Ser1253Pro)
c.3901T>C (p.Ser1301Pro)
c.3814T>C (p.Ser1272Pro)
c.3622T>C (p.Ser1208Pro)
c.3397T>C (p.Ser1133Pro)
c.3079T>C (p.Ser1027Pro)
c.3988T>C (p.Ser1330Pro)
13g.101081568A>TCA388650251NALCNc.3844T>A (p.Ser1282Thr)
c.3565T>A (p.Ser1189Thr)
c.3931T>A (p.Ser1311Thr)
c.3757T>A (p.Ser1253Thr)
c.3901T>A (p.Ser1301Thr)
c.3814T>A (p.Ser1272Thr)
c.3622T>A (p.Ser1208Thr)
c.3397T>A (p.Ser1133Thr)
c.3079T>A (p.Ser1027Thr)
c.3988T>A (p.Ser1330Thr)
13g.101081568_101081569delCA2739277734NALCNc.3843_3844del (p.Ser1282AlafsTer28)
c.3564_3565del (p.Ser1189AlafsTer28)
c.3930_3931del (p.Ser1311AlafsTer28)
c.3756_3757del (p.Ser1253AlafsTer28)
c.3900_3901del (p.Ser1301AlafsTer28)
c.3813_3814del (p.Ser1272AlafsTer28)
c.3621_3622del (p.Ser1208AlafsTer28)
c.3396_3397del (p.Ser1133AlafsTer28)
c.3078_3079del (p.Ser1027AlafsTer28)
c.3987_3988del (p.Ser1330AlafsTer28)
ClinVar
13g.101081569C>ACA484551993NALCNc.3843G>T (p.Thr1281=)
c.3564G>T (p.Thr1188=)
c.3930G>T (p.Thr1310=)
c.3756G>T (p.Thr1252=)
c.3900G>T (p.Thr1300=)
c.3813G>T (p.Thr1271=)
c.3621G>T (p.Thr1207=)
c.3396G>T (p.Thr1132=)
c.3078G>T (p.Thr1026=)
c.3987G>T (p.Thr1329=)
13g.101081569C=CA2114388846NALCNc.3843G= (p.Thr1281=)
c.3564G= (p.Thr1188=)
c.3930G= (p.Thr1310=)
c.3756G= (p.Thr1252=)
c.3900G= (p.Thr1300=)
c.3813G= (p.Thr1271=)
c.3621G= (p.Thr1207=)
c.3396G= (p.Thr1132=)
c.3078G= (p.Thr1026=)
c.3987G= (p.Thr1329=)
13g.101081569C>GCA484551995NALCNc.3843G>C (p.Thr1281=)
c.3564G>C (p.Thr1188=)
c.3930G>C (p.Thr1310=)
c.3756G>C (p.Thr1252=)
c.3900G>C (p.Thr1300=)
c.3813G>C (p.Thr1271=)
c.3621G>C (p.Thr1207=)
c.3396G>C (p.Thr1132=)
c.3078G>C (p.Thr1026=)
c.3987G>C (p.Thr1329=)
13g.101081569C>TCA7035283NALCNc.3843G>A (p.Thr1281=)
c.3564G>A (p.Thr1188=)
c.3930G>A (p.Thr1310=)
c.3756G>A (p.Thr1252=)
c.3900G>A (p.Thr1300=)
c.3813G>A (p.Thr1271=)
c.3621G>A (p.Thr1207=)
c.3396G>A (p.Thr1132=)
c.3078G>A (p.Thr1026=)
c.3987G>A (p.Thr1329=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.101081570G>ACA388650254NALCNc.3842C>T (p.Thr1281Met)
c.3563C>T (p.Thr1188Met)
c.3929C>T (p.Thr1310Met)
c.3755C>T (p.Thr1252Met)
c.3899C>T (p.Thr1300Met)
c.3812C>T (p.Thr1271Met)
c.3620C>T (p.Thr1207Met)
c.3395C>T (p.Thr1132Met)
c.3077C>T (p.Thr1026Met)
c.3986C>T (p.Thr1329Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.101081570G>CCA388650255NALCNc.3842C>G (p.Thr1281Arg)
c.3563C>G (p.Thr1188Arg)
c.3929C>G (p.Thr1310Arg)
c.3755C>G (p.Thr1252Arg)
c.3899C>G (p.Thr1300Arg)
c.3812C>G (p.Thr1271Arg)
c.3620C>G (p.Thr1207Arg)
c.3395C>G (p.Thr1132Arg)
c.3077C>G (p.Thr1026Arg)
c.3986C>G (p.Thr1329Arg)
13g.101081570G=CA2114388847NALCNc.3842C= (p.Thr1281=)
c.3563C= (p.Thr1188=)
c.3929C= (p.Thr1310=)
c.3755C= (p.Thr1252=)
c.3899C= (p.Thr1300=)
c.3812C= (p.Thr1271=)
c.3620C= (p.Thr1207=)
c.3395C= (p.Thr1132=)
c.3077C= (p.Thr1026=)
c.3986C= (p.Thr1329=)
13g.101081570G>TCA388650257NALCNc.3842C>A (p.Thr1281Lys)
c.3563C>A (p.Thr1188Lys)
c.3929C>A (p.Thr1310Lys)
c.3755C>A (p.Thr1252Lys)
c.3899C>A (p.Thr1300Lys)
c.3812C>A (p.Thr1271Lys)
c.3620C>A (p.Thr1207Lys)
c.3395C>A (p.Thr1132Lys)
c.3077C>A (p.Thr1026Lys)
c.3986C>A (p.Thr1329Lys)
13g.101081571T>ACA388650258NALCNc.3841A>T (p.Thr1281Ser)
c.3562A>T (p.Thr1188Ser)
c.3928A>T (p.Thr1310Ser)
c.3754A>T (p.Thr1252Ser)
c.3898A>T (p.Thr1300Ser)
c.3811A>T (p.Thr1271Ser)
c.3619A>T (p.Thr1207Ser)
c.3394A>T (p.Thr1132Ser)
c.3076A>T (p.Thr1026Ser)
c.3985A>T (p.Thr1329Ser)
13g.101081571T>CCA388650259NALCNc.3841A>G (p.Thr1281Ala)
c.3562A>G (p.Thr1188Ala)
c.3928A>G (p.Thr1310Ala)
c.3754A>G (p.Thr1252Ala)
c.3898A>G (p.Thr1300Ala)
c.3811A>G (p.Thr1271Ala)
c.3619A>G (p.Thr1207Ala)
c.3394A>G (p.Thr1132Ala)
c.3076A>G (p.Thr1026Ala)
c.3985A>G (p.Thr1329Ala)
gnomAD v4
13g.101081571T>GCA388650261NALCNc.3841A>C (p.Thr1281Pro)
c.3562A>C (p.Thr1188Pro)
c.3928A>C (p.Thr1310Pro)
c.3754A>C (p.Thr1252Pro)
c.3898A>C (p.Thr1300Pro)
c.3811A>C (p.Thr1271Pro)
c.3619A>C (p.Thr1207Pro)
c.3394A>C (p.Thr1132Pro)
c.3076A>C (p.Thr1026Pro)
c.3985A>C (p.Thr1329Pro)
13g.101081572C>ACA484552010NALCNc.3840G>T (p.Val1280=)
c.3561G>T (p.Val1187=)
c.3927G>T (p.Val1309=)
c.3753G>T (p.Val1251=)
c.3897G>T (p.Val1299=)
c.3810G>T (p.Val1270=)
c.3618G>T (p.Val1206=)
c.3393G>T (p.Val1131=)
c.3075G>T (p.Val1025=)
c.3984G>T (p.Val1328=)
13g.101081572C>GCA484552012NALCNc.3840G>C (p.Val1280=)
c.3561G>C (p.Val1187=)
c.3927G>C (p.Val1309=)
c.3753G>C (p.Val1251=)
c.3897G>C (p.Val1299=)
c.3810G>C (p.Val1270=)
c.3618G>C (p.Val1206=)
c.3393G>C (p.Val1131=)
c.3075G>C (p.Val1025=)
c.3984G>C (p.Val1328=)
13g.101081572C>TCA484552015NALCNc.3840G>A (p.Val1280=)
c.3561G>A (p.Val1187=)
c.3927G>A (p.Val1309=)
c.3753G>A (p.Val1251=)
c.3897G>A (p.Val1299=)
c.3810G>A (p.Val1270=)
c.3618G>A (p.Val1206=)
c.3393G>A (p.Val1131=)
c.3075G>A (p.Val1025=)
c.3984G>A (p.Val1328=)
gnomAD v4
13g.101081573A>CCA388650263NALCNc.3839T>G (p.Val1280Gly)
c.3560T>G (p.Val1187Gly)
c.3926T>G (p.Val1309Gly)
c.3752T>G (p.Val1251Gly)
c.3896T>G (p.Val1299Gly)
c.3809T>G (p.Val1270Gly)
c.3617T>G (p.Val1206Gly)
c.3392T>G (p.Val1131Gly)
c.3074T>G (p.Val1025Gly)
c.3983T>G (p.Val1328Gly)
13g.101081573A>GCA388650265NALCNc.3839T>C (p.Val1280Ala)
c.3560T>C (p.Val1187Ala)
c.3926T>C (p.Val1309Ala)
c.3752T>C (p.Val1251Ala)
c.3896T>C (p.Val1299Ala)
c.3809T>C (p.Val1270Ala)
c.3617T>C (p.Val1206Ala)
c.3392T>C (p.Val1131Ala)
c.3074T>C (p.Val1025Ala)
c.3983T>C (p.Val1328Ala)
13g.101081573A>TCA388650266NALCNc.3839T>A (p.Val1280Glu)
c.3560T>A (p.Val1187Glu)
c.3926T>A (p.Val1309Glu)
c.3752T>A (p.Val1251Glu)
c.3896T>A (p.Val1299Glu)
c.3809T>A (p.Val1270Glu)
c.3617T>A (p.Val1206Glu)
c.3392T>A (p.Val1131Glu)
c.3074T>A (p.Val1025Glu)
c.3983T>A (p.Val1328Glu)
13g.101081574C>ACA388650268NALCNc.3838G>T (p.Val1280Leu)
c.3559G>T (p.Val1187Leu)
c.3925G>T (p.Val1309Leu)
c.3751G>T (p.Val1251Leu)
c.3895G>T (p.Val1299Leu)
c.3808G>T (p.Val1270Leu)
c.3616G>T (p.Val1206Leu)
c.3391G>T (p.Val1131Leu)
c.3073G>T (p.Val1025Leu)
c.3982G>T (p.Val1328Leu)
13g.101081574C>GCA388650271NALCNc.3838G>C (p.Val1280Leu)
c.3559G>C (p.Val1187Leu)
c.3925G>C (p.Val1309Leu)
c.3751G>C (p.Val1251Leu)
c.3895G>C (p.Val1299Leu)
c.3808G>C (p.Val1270Leu)
c.3616G>C (p.Val1206Leu)
c.3391G>C (p.Val1131Leu)
c.3073G>C (p.Val1025Leu)
c.3982G>C (p.Val1328Leu)
13g.101081574C>TCA388650269NALCNc.3838G>A (p.Val1280Met)
c.3559G>A (p.Val1187Met)
c.3925G>A (p.Val1309Met)
c.3751G>A (p.Val1251Met)
c.3895G>A (p.Val1299Met)
c.3808G>A (p.Val1270Met)
c.3616G>A (p.Val1206Met)
c.3391G>A (p.Val1131Met)
c.3073G>A (p.Val1025Met)
c.3982G>A (p.Val1328Met)
13g.101081575C>ACA484552038NALCNc.3837G>T (p.Leu1279=)
c.3558G>T (p.Leu1186=)
c.3924G>T (p.Leu1308=)
c.3750G>T (p.Leu1250=)
c.3894G>T (p.Leu1298=)
c.3807G>T (p.Leu1269=)
c.3615G>T (p.Leu1205=)
c.3390G>T (p.Leu1130=)
c.3072G>T (p.Leu1024=)
c.3981G>T (p.Leu1327=)
13g.101081575C=CA2114388848NALCNc.3837G= (p.Leu1279=)
c.3558G= (p.Leu1186=)
c.3924G= (p.Leu1308=)
c.3750G= (p.Leu1250=)
c.3894G= (p.Leu1298=)
c.3807G= (p.Leu1269=)
c.3615G= (p.Leu1205=)
c.3390G= (p.Leu1130=)
c.3072G= (p.Leu1024=)
c.3981G= (p.Leu1327=)
13g.101081575C>GCA7035284NALCNc.3837G>C (p.Leu1279=)
c.3558G>C (p.Leu1186=)
c.3924G>C (p.Leu1308=)
c.3750G>C (p.Leu1250=)
c.3894G>C (p.Leu1298=)
c.3807G>C (p.Leu1269=)
c.3615G>C (p.Leu1205=)
c.3390G>C (p.Leu1130=)
c.3072G>C (p.Leu1024=)
c.3981G>C (p.Leu1327=)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.101081575C>TCA484552035NALCNc.3837G>A (p.Leu1279=)
c.3558G>A (p.Leu1186=)
c.3924G>A (p.Leu1308=)
c.3750G>A (p.Leu1250=)
c.3894G>A (p.Leu1298=)
c.3807G>A (p.Leu1269=)
c.3615G>A (p.Leu1205=)
c.3390G>A (p.Leu1130=)
c.3072G>A (p.Leu1024=)
c.3981G>A (p.Leu1327=)
13g.101081576A>CCA388650276NALCNc.3836T>G (p.Leu1279Arg)
c.3557T>G (p.Leu1186Arg)
c.3923T>G (p.Leu1308Arg)
c.3749T>G (p.Leu1250Arg)
c.3893T>G (p.Leu1298Arg)
c.3806T>G (p.Leu1269Arg)
c.3614T>G (p.Leu1205Arg)
c.3389T>G (p.Leu1130Arg)
c.3071T>G (p.Leu1024Arg)
c.3980T>G (p.Leu1327Arg)
13g.101081576A>GCA388650273NALCNc.3836T>C (p.Leu1279Pro)
c.3557T>C (p.Leu1186Pro)
c.3923T>C (p.Leu1308Pro)
c.3749T>C (p.Leu1250Pro)
c.3893T>C (p.Leu1298Pro)
c.3806T>C (p.Leu1269Pro)
c.3614T>C (p.Leu1205Pro)
c.3389T>C (p.Leu1130Pro)
c.3071T>C (p.Leu1024Pro)
c.3980T>C (p.Leu1327Pro)
13g.101081576A>TCA388650275NALCNc.3836T>A (p.Leu1279Gln)
c.3557T>A (p.Leu1186Gln)
c.3923T>A (p.Leu1308Gln)
c.3749T>A (p.Leu1250Gln)
c.3893T>A (p.Leu1298Gln)
c.3806T>A (p.Leu1269Gln)
c.3614T>A (p.Leu1205Gln)
c.3389T>A (p.Leu1130Gln)
c.3071T>A (p.Leu1024Gln)
c.3980T>A (p.Leu1327Gln)
13g.101081577G>ACA484552049NALCNc.3835C>T (p.Leu1279=)
c.3556C>T (p.Leu1186=)
c.3922C>T (p.Leu1308=)
c.3748C>T (p.Leu1250=)
c.3892C>T (p.Leu1298=)
c.3805C>T (p.Leu1269=)
c.3613C>T (p.Leu1205=)
c.3388C>T (p.Leu1130=)
c.3070C>T (p.Leu1024=)
c.3979C>T (p.Leu1327=)
13g.101081577G>CCA388650278NALCNc.3835C>G (p.Leu1279Val)
c.3556C>G (p.Leu1186Val)
c.3922C>G (p.Leu1308Val)
c.3748C>G (p.Leu1250Val)
c.3892C>G (p.Leu1298Val)
c.3805C>G (p.Leu1269Val)
c.3613C>G (p.Leu1205Val)
c.3388C>G (p.Leu1130Val)
c.3070C>G (p.Leu1024Val)
c.3979C>G (p.Leu1327Val)
13g.101081577G>TCA388650279NALCNc.3835C>A (p.Leu1279Met)
c.3556C>A (p.Leu1186Met)
c.3922C>A (p.Leu1308Met)
c.3748C>A (p.Leu1250Met)
c.3892C>A (p.Leu1298Met)
c.3805C>A (p.Leu1269Met)
c.3613C>A (p.Leu1205Met)
c.3388C>A (p.Leu1130Met)
c.3070C>A (p.Leu1024Met)
c.3979C>A (p.Leu1327Met)
13g.101081578delCA2623578307NALCNc.3835del (p.Leu1279TrpfsTer2)
c.3556del (p.Leu1186TrpfsTer2)
c.3922del (p.Leu1308TrpfsTer2)
c.3748del (p.Leu1250TrpfsTer2)
c.3892del (p.Leu1298TrpfsTer2)
c.3805del (p.Leu1269TrpfsTer2)
c.3613del (p.Leu1205TrpfsTer2)
c.3388del (p.Leu1130TrpfsTer2)
c.3070del (p.Leu1024TrpfsTer2)
c.3979del (p.Leu1327TrpfsTer2)
gnomAD v4
13g.101081578G>ACA7035285NALCNc.3834C>T (p.Leu1278=)
c.3555C>T (p.Leu1185=)
c.3921C>T (p.Leu1307=)
c.3747C>T (p.Leu1249=)
c.3891C>T (p.Leu1297=)
c.3804C>T (p.Leu1268=)
c.3612C>T (p.Leu1204=)
c.3387C>T (p.Leu1129=)
c.3069C>T (p.Leu1023=)
c.3978C>T (p.Leu1326=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
13g.101081578G>CCA484552056NALCNc.3834C>G (p.Leu1278=)
c.3555C>G (p.Leu1185=)
c.3921C>G (p.Leu1307=)
c.3747C>G (p.Leu1249=)
c.3891C>G (p.Leu1297=)
c.3804C>G (p.Leu1268=)
c.3612C>G (p.Leu1204=)
c.3387C>G (p.Leu1129=)
c.3069C>G (p.Leu1023=)
c.3978C>G (p.Leu1326=)
13g.101081578G=CA2114388849NALCNc.3834C= (p.Leu1278=)
c.3555C= (p.Leu1185=)
c.3921C= (p.Leu1307=)
c.3747C= (p.Leu1249=)
c.3891C= (p.Leu1297=)
c.3804C= (p.Leu1268=)
c.3612C= (p.Leu1204=)
c.3387C= (p.Leu1129=)
c.3069C= (p.Leu1023=)
c.3978C= (p.Leu1326=)
13g.101081578G>TCA484552059NALCNc.3834C>A (p.Leu1278=)
c.3555C>A (p.Leu1185=)
c.3921C>A (p.Leu1307=)
c.3747C>A (p.Leu1249=)
c.3891C>A (p.Leu1297=)
c.3804C>A (p.Leu1268=)
c.3612C>A (p.Leu1204=)
c.3387C>A (p.Leu1129=)
c.3069C>A (p.Leu1023=)
c.3978C>A (p.Leu1326=)
13g.101081579A>CCA388650281NALCNc.3833T>G (p.Leu1278Arg)
c.3554T>G (p.Leu1185Arg)
c.3920T>G (p.Leu1307Arg)
c.3746T>G (p.Leu1249Arg)
c.3890T>G (p.Leu1297Arg)
c.3803T>G (p.Leu1268Arg)
c.3611T>G (p.Leu1204Arg)
c.3386T>G (p.Leu1129Arg)
c.3068T>G (p.Leu1023Arg)
c.3977T>G (p.Leu1326Arg)
13g.101081579A>GCA388650282NALCNc.3833T>C (p.Leu1278Pro)
c.3554T>C (p.Leu1185Pro)
c.3920T>C (p.Leu1307Pro)
c.3746T>C (p.Leu1249Pro)
c.3890T>C (p.Leu1297Pro)
c.3803T>C (p.Leu1268Pro)
c.3611T>C (p.Leu1204Pro)
c.3386T>C (p.Leu1129Pro)
c.3068T>C (p.Leu1023Pro)
c.3977T>C (p.Leu1326Pro)
13g.101081579A>TCA388650284NALCNc.3833T>A (p.Leu1278His)
c.3554T>A (p.Leu1185His)
c.3920T>A (p.Leu1307His)
c.3746T>A (p.Leu1249His)
c.3890T>A (p.Leu1297His)
c.3803T>A (p.Leu1268His)
c.3611T>A (p.Leu1204His)
c.3386T>A (p.Leu1129His)
c.3068T>A (p.Leu1023His)
c.3977T>A (p.Leu1326His)
13g.101081580G>ACA388650286NALCNc.3832C>T (p.Leu1278Phe)
c.3553C>T (p.Leu1185Phe)
c.3919C>T (p.Leu1307Phe)
c.3745C>T (p.Leu1249Phe)
c.3889C>T (p.Leu1297Phe)
c.3802C>T (p.Leu1268Phe)
c.3610C>T (p.Leu1204Phe)
c.3385C>T (p.Leu1129Phe)
c.3067C>T (p.Leu1023Phe)
c.3976C>T (p.Leu1326Phe)
13g.101081580G>CCA388650287NALCNc.3832C>G (p.Leu1278Val)
c.3553C>G (p.Leu1185Val)
c.3919C>G (p.Leu1307Val)
c.3745C>G (p.Leu1249Val)
c.3889C>G (p.Leu1297Val)
c.3802C>G (p.Leu1268Val)
c.3610C>G (p.Leu1204Val)
c.3385C>G (p.Leu1129Val)
c.3067C>G (p.Leu1023Val)
c.3976C>G (p.Leu1326Val)
13g.101081580G>TCA388650288NALCNc.3832C>A (p.Leu1278Ile)
c.3553C>A (p.Leu1185Ile)
c.3919C>A (p.Leu1307Ile)
c.3745C>A (p.Leu1249Ile)
c.3889C>A (p.Leu1297Ile)
c.3802C>A (p.Leu1268Ile)
c.3610C>A (p.Leu1204Ile)
c.3385C>A (p.Leu1129Ile)
c.3067C>A (p.Leu1023Ile)
c.3976C>A (p.Leu1326Ile)
13g.101081581A>CCA388650290NALCNc.3831T>G (p.Asp1277Glu)
c.3552T>G (p.Asp1184Glu)
c.3918T>G (p.Asp1306Glu)
c.3744T>G (p.Asp1248Glu)
c.3888T>G (p.Asp1296Glu)
c.3801T>G (p.Asp1267Glu)
c.3609T>G (p.Asp1203Glu)
c.3384T>G (p.Asp1128Glu)
c.3066T>G (p.Asp1022Glu)
c.3975T>G (p.Asp1325Glu)
13g.101081581A>GCA484552074NALCNc.3831T>C (p.Asp1277=)
c.3552T>C (p.Asp1184=)
c.3918T>C (p.Asp1306=)
c.3744T>C (p.Asp1248=)
c.3888T>C (p.Asp1296=)
c.3801T>C (p.Asp1267=)
c.3609T>C (p.Asp1203=)
c.3384T>C (p.Asp1128=)
c.3066T>C (p.Asp1022=)
c.3975T>C (p.Asp1325=)
dbSNP
13g.101081581A>TCA388650289NALCNc.3831T>A (p.Asp1277Glu)
c.3552T>A (p.Asp1184Glu)
c.3918T>A (p.Asp1306Glu)
c.3744T>A (p.Asp1248Glu)
c.3888T>A (p.Asp1296Glu)
c.3801T>A (p.Asp1267Glu)
c.3609T>A (p.Asp1203Glu)
c.3384T>A (p.Asp1128Glu)
c.3066T>A (p.Asp1022Glu)
c.3975T>A (p.Asp1325Glu)
13g.101081582T>ACA388650291NALCNc.3830A>T (p.Asp1277Val)
c.3551A>T (p.Asp1184Val)
c.3917A>T (p.Asp1306Val)
c.3743A>T (p.Asp1248Val)
c.3887A>T (p.Asp1296Val)
c.3800A>T (p.Asp1267Val)
c.3608A>T (p.Asp1203Val)
c.3383A>T (p.Asp1128Val)
c.3065A>T (p.Asp1022Val)
c.3974A>T (p.Asp1325Val)
13g.101081582T>CCA7035286NALCNc.3830A>G (p.Asp1277Gly)
c.3551A>G (p.Asp1184Gly)
c.3917A>G (p.Asp1306Gly)
c.3743A>G (p.Asp1248Gly)
c.3887A>G (p.Asp1296Gly)
c.3800A>G (p.Asp1267Gly)
c.3608A>G (p.Asp1203Gly)
c.3383A>G (p.Asp1128Gly)
c.3065A>G (p.Asp1022Gly)
c.3974A>G (p.Asp1325Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.101081582T>GCA388650292NALCNc.3830A>C (p.Asp1277Ala)
c.3551A>C (p.Asp1184Ala)
c.3917A>C (p.Asp1306Ala)
c.3743A>C (p.Asp1248Ala)
c.3887A>C (p.Asp1296Ala)
c.3800A>C (p.Asp1267Ala)
c.3608A>C (p.Asp1203Ala)
c.3383A>C (p.Asp1128Ala)
c.3065A>C (p.Asp1022Ala)
c.3974A>C (p.Asp1325Ala)
gnomAD v4 COSMIC
13g.101081582T=CA2114388850NALCNc.3830A= (p.Asp1277=)
c.3551A= (p.Asp1184=)
c.3917A= (p.Asp1306=)
c.3743A= (p.Asp1248=)
c.3887A= (p.Asp1296=)
c.3800A= (p.Asp1267=)
c.3608A= (p.Asp1203=)
c.3383A= (p.Asp1128=)
c.3065A= (p.Asp1022=)
c.3974A= (p.Asp1325=)
13g.101081583C>ACA388650293NALCNc.3829G>T (p.Asp1277Tyr)
c.3550G>T (p.Asp1184Tyr)
c.3916G>T (p.Asp1306Tyr)
c.3742G>T (p.Asp1248Tyr)
c.3886G>T (p.Asp1296Tyr)
c.3799G>T (p.Asp1267Tyr)
c.3607G>T (p.Asp1203Tyr)
c.3382G>T (p.Asp1128Tyr)
c.3064G>T (p.Asp1022Tyr)
c.3973G>T (p.Asp1325Tyr)
13g.101081583C=CA2114388851NALCNc.3829G= (p.Asp1277=)
c.3550G= (p.Asp1184=)
c.3916G= (p.Asp1306=)
c.3742G= (p.Asp1248=)
c.3886G= (p.Asp1296=)
c.3799G= (p.Asp1267=)
c.3607G= (p.Asp1203=)
c.3382G= (p.Asp1128=)
c.3064G= (p.Asp1022=)
c.3973G= (p.Asp1325=)
13g.101081583C>GCA388650294NALCNc.3829G>C (p.Asp1277His)
c.3550G>C (p.Asp1184His)
c.3916G>C (p.Asp1306His)
c.3742G>C (p.Asp1248His)
c.3886G>C (p.Asp1296His)
c.3799G>C (p.Asp1267His)
c.3607G>C (p.Asp1203His)
c.3382G>C (p.Asp1128His)
c.3064G>C (p.Asp1022His)
c.3973G>C (p.Asp1325His)
gnomAD v4 COSMIC
13g.101081583C>TCA255407126NALCNc.3829G>A (p.Asp1277Asn)
c.3550G>A (p.Asp1184Asn)
c.3916G>A (p.Asp1306Asn)
c.3742G>A (p.Asp1248Asn)
c.3886G>A (p.Asp1296Asn)
c.3799G>A (p.Asp1267Asn)
c.3607G>A (p.Asp1203Asn)
c.3382G>A (p.Asp1128Asn)
c.3064G>A (p.Asp1022Asn)
c.3973G>A (p.Asp1325Asn)
dbSNP gnomAD v4 COSMIC
13g.101081584G>ACA7035287NALCNc.3828C>T (p.Tyr1276=)
c.3549C>T (p.Tyr1183=)
c.3915C>T (p.Tyr1305=)
c.3741C>T (p.Tyr1247=)
c.3885C>T (p.Tyr1295=)
c.3798C>T (p.Tyr1266=)
c.3606C>T (p.Tyr1202=)
c.3381C>T (p.Tyr1127=)
c.3063C>T (p.Tyr1021=)
c.3972C>T (p.Tyr1324=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.101081584G>CCA388650297NALCNc.3828C>G (p.Tyr1276Ter)
c.3549C>G (p.Tyr1183Ter)
c.3915C>G (p.Tyr1305Ter)
c.3741C>G (p.Tyr1247Ter)
c.3885C>G (p.Tyr1295Ter)
c.3798C>G (p.Tyr1266Ter)
c.3606C>G (p.Tyr1202Ter)
c.3381C>G (p.Tyr1127Ter)
c.3063C>G (p.Tyr1021Ter)
c.3972C>G (p.Tyr1324Ter)
13g.101081584G=CA2114388852NALCNc.3828C= (p.Tyr1276=)
c.3549C= (p.Tyr1183=)
c.3915C= (p.Tyr1305=)
c.3741C= (p.Tyr1247=)
c.3885C= (p.Tyr1295=)
c.3798C= (p.Tyr1266=)
c.3606C= (p.Tyr1202=)
c.3381C= (p.Tyr1127=)
c.3063C= (p.Tyr1021=)
c.3972C= (p.Tyr1324=)
13g.101081584G>TCA388650298NALCNc.3828C>A (p.Tyr1276Ter)
c.3549C>A (p.Tyr1183Ter)
c.3915C>A (p.Tyr1305Ter)
c.3741C>A (p.Tyr1247Ter)
c.3885C>A (p.Tyr1295Ter)
c.3798C>A (p.Tyr1266Ter)
c.3606C>A (p.Tyr1202Ter)
c.3381C>A (p.Tyr1127Ter)
c.3063C>A (p.Tyr1021Ter)
c.3972C>A (p.Tyr1324Ter)
13g.101081584_101081586delinsGTACA2114388853NALCNc.3826_3828delinsTAC (p.Tyr1276=)
c.3547_3549delinsTAC (p.Tyr1183=)
c.3913_3915delinsTAC (p.Tyr1305=)
c.3739_3741delinsTAC (p.Tyr1247=)
c.3883_3885delinsTAC (p.Tyr1295=)
c.3796_3798delinsTAC (p.Tyr1266=)
c.3604_3606delinsTAC (p.Tyr1202=)
c.3379_3381delinsTAC (p.Tyr1127=)
c.3061_3063delinsTAC (p.Tyr1021=)
c.3970_3972delinsTAC (p.Tyr1324=)
13g.101081585T>ACA388650299NALCNc.3827A>T (p.Tyr1276Phe)
c.3548A>T (p.Tyr1183Phe)
c.3914A>T (p.Tyr1305Phe)
c.3740A>T (p.Tyr1247Phe)
c.3884A>T (p.Tyr1295Phe)
c.3797A>T (p.Tyr1266Phe)
c.3605A>T (p.Tyr1202Phe)
c.3380A>T (p.Tyr1127Phe)
c.3062A>T (p.Tyr1021Phe)
c.3971A>T (p.Tyr1324Phe)
13g.101081585T>CCA388650301NALCNc.3827A>G (p.Tyr1276Cys)
c.3548A>G (p.Tyr1183Cys)
c.3914A>G (p.Tyr1305Cys)
c.3740A>G (p.Tyr1247Cys)
c.3884A>G (p.Tyr1295Cys)
c.3797A>G (p.Tyr1266Cys)
c.3605A>G (p.Tyr1202Cys)
c.3380A>G (p.Tyr1127Cys)
c.3062A>G (p.Tyr1021Cys)
c.3971A>G (p.Tyr1324Cys)
gnomAD v3 gnomAD v4
13g.101081585T>GCA388650303NALCNc.3827A>C (p.Tyr1276Ser)
c.3548A>C (p.Tyr1183Ser)
c.3914A>C (p.Tyr1305Ser)
c.3740A>C (p.Tyr1247Ser)
c.3884A>C (p.Tyr1295Ser)
c.3797A>C (p.Tyr1266Ser)
c.3605A>C (p.Tyr1202Ser)
c.3380A>C (p.Tyr1127Ser)
c.3062A>C (p.Tyr1021Ser)
c.3971A>C (p.Tyr1324Ser)
13g.101081586_101081587delCA611945696NALCNc.3826_3827del (p.Tyr1276ArgfsTer?)
c.3547_3548del (p.Tyr1183ArgfsTer?)
c.3913_3914del (p.Tyr1305ArgfsTer?)
c.3739_3740del (p.Tyr1247ArgfsTer?)
c.3883_3884del (p.Tyr1295ArgfsTer?)
c.3796_3797del (p.Tyr1266ArgfsTer?)
c.3604_3605del (p.Tyr1202ArgfsTer?)
c.3379_3380del (p.Tyr1127ArgfsTer?)
c.3061_3062del (p.Tyr1021ArgfsTer?)
c.3970_3971del (p.Tyr1324ArgfsTer?)
dbSNP gnomAD v2 gnomAD v4
13g.101081586A>CCA388650306NALCNc.3826T>G (p.Tyr1276Asp)
c.3547T>G (p.Tyr1183Asp)
c.3913T>G (p.Tyr1305Asp)
c.3739T>G (p.Tyr1247Asp)
c.3883T>G (p.Tyr1295Asp)
c.3796T>G (p.Tyr1266Asp)
c.3604T>G (p.Tyr1202Asp)
c.3379T>G (p.Tyr1127Asp)
c.3061T>G (p.Tyr1021Asp)
c.3970T>G (p.Tyr1324Asp)
13g.101081586A>GCA388650307NALCNc.3826T>C (p.Tyr1276His)
c.3547T>C (p.Tyr1183His)
c.3913T>C (p.Tyr1305His)
c.3739T>C (p.Tyr1247His)
c.3883T>C (p.Tyr1295His)
c.3796T>C (p.Tyr1266His)
c.3604T>C (p.Tyr1202His)
c.3379T>C (p.Tyr1127His)
c.3061T>C (p.Tyr1021His)
c.3970T>C (p.Tyr1324His)
13g.101081586A>TCA388650305NALCNc.3826T>A (p.Tyr1276Asn)
c.3547T>A (p.Tyr1183Asn)
c.3913T>A (p.Tyr1305Asn)
c.3739T>A (p.Tyr1247Asn)
c.3883T>A (p.Tyr1295Asn)
c.3796T>A (p.Tyr1266Asn)
c.3604T>A (p.Tyr1202Asn)
c.3379T>A (p.Tyr1127Asn)
c.3061T>A (p.Tyr1021Asn)
c.3970T>A (p.Tyr1324Asn)
13g.101081587T>ACA484552105NALCNc.3825A>T (p.Arg1275=)
c.3546A>T (p.Arg1182=)
c.3912A>T (p.Arg1304=)
c.3738A>T (p.Arg1246=)
c.3882A>T (p.Arg1294=)
c.3795A>T (p.Arg1265=)
c.3603A>T (p.Arg1201=)
c.3378A>T (p.Arg1126=)
c.3060A>T (p.Arg1020=)
c.3969A>T (p.Arg1323=)
13g.101081587T>CCA484552110NALCNc.3825A>G (p.Arg1275=)
c.3546A>G (p.Arg1182=)
c.3912A>G (p.Arg1304=)
c.3738A>G (p.Arg1246=)
c.3882A>G (p.Arg1294=)
c.3795A>G (p.Arg1265=)
c.3603A>G (p.Arg1201=)
c.3378A>G (p.Arg1126=)
c.3060A>G (p.Arg1020=)
c.3969A>G (p.Arg1323=)
dbSNP gnomAD v2 gnomAD v4
13g.101081587T>GCA484552107NALCNc.3825A>C (p.Arg1275=)
c.3546A>C (p.Arg1182=)
c.3912A>C (p.Arg1304=)
c.3738A>C (p.Arg1246=)
c.3882A>C (p.Arg1294=)
c.3795A>C (p.Arg1265=)
c.3603A>C (p.Arg1201=)
c.3378A>C (p.Arg1126=)
c.3060A>C (p.Arg1020=)
c.3969A>C (p.Arg1323=)
13g.101081587T=CA2114388854NALCNc.3825A= (p.Arg1275=)
c.3546A= (p.Arg1182=)
c.3912A= (p.Arg1304=)
c.3738A= (p.Arg1246=)
c.3882A= (p.Arg1294=)
c.3795A= (p.Arg1265=)
c.3603A= (p.Arg1201=)
c.3378A= (p.Arg1126=)
c.3060A= (p.Arg1020=)
c.3969A= (p.Arg1323=)
13g.101081588C>ACA388650308NALCNc.3824G>T (p.Arg1275Leu)
c.3545G>T (p.Arg1182Leu)
c.3911G>T (p.Arg1304Leu)
c.3737G>T (p.Arg1246Leu)
c.3881G>T (p.Arg1294Leu)
c.3794G>T (p.Arg1265Leu)
c.3602G>T (p.Arg1201Leu)
c.3377G>T (p.Arg1126Leu)
c.3059G>T (p.Arg1020Leu)
c.3968G>T (p.Arg1323Leu)
13g.101081588C>GCA388650310NALCNc.3824G>C (p.Arg1275Pro)
c.3545G>C (p.Arg1182Pro)
c.3911G>C (p.Arg1304Pro)
c.3737G>C (p.Arg1246Pro)
c.3881G>C (p.Arg1294Pro)
c.3794G>C (p.Arg1265Pro)
c.3602G>C (p.Arg1201Pro)
c.3377G>C (p.Arg1126Pro)
c.3059G>C (p.Arg1020Pro)
c.3968G>C (p.Arg1323Pro)
13g.101081588C>TCA388650312NALCNc.3824G>A (p.Arg1275Gln)
c.3545G>A (p.Arg1182Gln)
c.3911G>A (p.Arg1304Gln)
c.3737G>A (p.Arg1246Gln)
c.3881G>A (p.Arg1294Gln)
c.3794G>A (p.Arg1265Gln)
c.3602G>A (p.Arg1201Gln)
c.3377G>A (p.Arg1126Gln)
c.3059G>A (p.Arg1020Gln)
c.3968G>A (p.Arg1323Gln)
gnomAD v4 COSMIC
13g.101081589G>ACA7035288NALCNc.3823C>T (p.Arg1275Ter)
c.3544C>T (p.Arg1182Ter)
c.3910C>T (p.Arg1304Ter)
c.3736C>T (p.Arg1246Ter)
c.3880C>T (p.Arg1294Ter)
c.3793C>T (p.Arg1265Ter)
c.3601C>T (p.Arg1201Ter)
c.3376C>T (p.Arg1126Ter)
c.3058C>T (p.Arg1020Ter)
c.3967C>T (p.Arg1323Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.101081589G>CCA388650313NALCNc.3823C>G (p.Arg1275Gly)
c.3544C>G (p.Arg1182Gly)
c.3910C>G (p.Arg1304Gly)
c.3736C>G (p.Arg1246Gly)
c.3880C>G (p.Arg1294Gly)
c.3793C>G (p.Arg1265Gly)
c.3601C>G (p.Arg1201Gly)
c.3376C>G (p.Arg1126Gly)
c.3058C>G (p.Arg1020Gly)
c.3967C>G (p.Arg1323Gly)
13g.101081589G=CA2114388855NALCNc.3823C= (p.Arg1275=)
c.3544C= (p.Arg1182=)
c.3910C= (p.Arg1304=)
c.3736C= (p.Arg1246=)
c.3880C= (p.Arg1294=)
c.3793C= (p.Arg1265=)
c.3601C= (p.Arg1201=)
c.3376C= (p.Arg1126=)
c.3058C= (p.Arg1020=)
c.3967C= (p.Arg1323=)
13g.101081589G>TCA484552122NALCNc.3823C>A (p.Arg1275=)
c.3544C>A (p.Arg1182=)
c.3910C>A (p.Arg1304=)
c.3736C>A (p.Arg1246=)
c.3880C>A (p.Arg1294=)
c.3793C>A (p.Arg1265=)
c.3601C>A (p.Arg1201=)
c.3376C>A (p.Arg1126=)
c.3058C>A (p.Arg1020=)
c.3967C>A (p.Arg1323=)
13g.101081590G>ACA484552126NALCNc.3822C>T (p.Asn1274=)
c.3543C>T (p.Asn1181=)
c.3909C>T (p.Asn1303=)
c.3735C>T (p.Asn1245=)
c.3879C>T (p.Asn1293=)
c.3792C>T (p.Asn1264=)
c.3600C>T (p.Asn1200=)
c.3375C>T (p.Asn1125=)
c.3057C>T (p.Asn1019=)
c.3966C>T (p.Asn1322=)
13g.101081590G>CCA388650315NALCNc.3822C>G (p.Asn1274Lys)
c.3543C>G (p.Asn1181Lys)
c.3909C>G (p.Asn1303Lys)
c.3735C>G (p.Asn1245Lys)
c.3879C>G (p.Asn1293Lys)
c.3792C>G (p.Asn1264Lys)
c.3600C>G (p.Asn1200Lys)
c.3375C>G (p.Asn1125Lys)
c.3057C>G (p.Asn1019Lys)
c.3966C>G (p.Asn1322Lys)
13g.101081590G>TCA388650317NALCNc.3822C>A (p.Asn1274Lys)
c.3543C>A (p.Asn1181Lys)
c.3909C>A (p.Asn1303Lys)
c.3735C>A (p.Asn1245Lys)
c.3879C>A (p.Asn1293Lys)
c.3792C>A (p.Asn1264Lys)
c.3600C>A (p.Asn1200Lys)
c.3375C>A (p.Asn1125Lys)
c.3057C>A (p.Asn1019Lys)
c.3966C>A (p.Asn1322Lys)
13g.101081591T>ACA388650319NALCNc.3821A>T (p.Asn1274Ile)
c.3542A>T (p.Asn1181Ile)
c.3908A>T (p.Asn1303Ile)
c.3734A>T (p.Asn1245Ile)
c.3878A>T (p.Asn1293Ile)
c.3791A>T (p.Asn1264Ile)
c.3599A>T (p.Asn1200Ile)
c.3374A>T (p.Asn1125Ile)
c.3056A>T (p.Asn1019Ile)
c.3965A>T (p.Asn1322Ile)
13g.101081591T>CCA388650320NALCNc.3821A>G (p.Asn1274Ser)
c.3542A>G (p.Asn1181Ser)
c.3908A>G (p.Asn1303Ser)
c.3734A>G (p.Asn1245Ser)
c.3878A>G (p.Asn1293Ser)
c.3791A>G (p.Asn1264Ser)
c.3599A>G (p.Asn1200Ser)
c.3374A>G (p.Asn1125Ser)
c.3056A>G (p.Asn1019Ser)
c.3965A>G (p.Asn1322Ser)
13g.101081591T>GCA388650322NALCNc.3821A>C (p.Asn1274Thr)
c.3542A>C (p.Asn1181Thr)
c.3908A>C (p.Asn1303Thr)
c.3734A>C (p.Asn1245Thr)
c.3878A>C (p.Asn1293Thr)
c.3791A>C (p.Asn1264Thr)
c.3599A>C (p.Asn1200Thr)
c.3374A>C (p.Asn1125Thr)
c.3056A>C (p.Asn1019Thr)
c.3965A>C (p.Asn1322Thr)
13g.101081592T>ACA388650323NALCNc.3820A>T (p.Asn1274Tyr)
c.3541A>T (p.Asn1181Tyr)
c.3907A>T (p.Asn1303Tyr)
c.3733A>T (p.Asn1245Tyr)
c.3877A>T (p.Asn1293Tyr)
c.3790A>T (p.Asn1264Tyr)
c.3598A>T (p.Asn1200Tyr)
c.3373A>T (p.Asn1125Tyr)
c.3055A>T (p.Asn1019Tyr)
c.3964A>T (p.Asn1322Tyr)
13g.101081592T>CCA388650325NALCNc.3820A>G (p.Asn1274Asp)
c.3541A>G (p.Asn1181Asp)
c.3907A>G (p.Asn1303Asp)
c.3733A>G (p.Asn1245Asp)
c.3877A>G (p.Asn1293Asp)
c.3790A>G (p.Asn1264Asp)
c.3598A>G (p.Asn1200Asp)
c.3373A>G (p.Asn1125Asp)
c.3055A>G (p.Asn1019Asp)
c.3964A>G (p.Asn1322Asp)
13g.101081592T>GCA388650326NALCNc.3820A>C (p.Asn1274His)
c.3541A>C (p.Asn1181His)
c.3907A>C (p.Asn1303His)
c.3733A>C (p.Asn1245His)
c.3877A>C (p.Asn1293His)
c.3790A>C (p.Asn1264His)
c.3598A>C (p.Asn1200His)
c.3373A>C (p.Asn1125His)
c.3055A>C (p.Asn1019His)
c.3964A>C (p.Asn1322His)
COSMIC
13g.101081593T>ACA388650328NALCNc.3819A>T (p.Arg1273Ser)
c.3540A>T (p.Arg1180Ser)
c.3906A>T (p.Arg1302Ser)
c.3732A>T (p.Arg1244Ser)
c.3876A>T (p.Arg1292Ser)
c.3789A>T (p.Arg1263Ser)
c.3597A>T (p.Arg1199Ser)
c.3372A>T (p.Arg1124Ser)
c.3054A>T (p.Arg1018Ser)
c.3963A>T (p.Arg1321Ser)
13g.101081593T>CCA484552143NALCNc.3819A>G (p.Arg1273=)
c.3540A>G (p.Arg1180=)
c.3906A>G (p.Arg1302=)
c.3732A>G (p.Arg1244=)
c.3876A>G (p.Arg1292=)
c.3789A>G (p.Arg1263=)
c.3597A>G (p.Arg1199=)
c.3372A>G (p.Arg1124=)
c.3054A>G (p.Arg1018=)
c.3963A>G (p.Arg1321=)
13g.101081593T>GCA388650330NALCNc.3819A>C (p.Arg1273Ser)
c.3540A>C (p.Arg1180Ser)
c.3906A>C (p.Arg1302Ser)
c.3732A>C (p.Arg1244Ser)
c.3876A>C (p.Arg1292Ser)
c.3789A>C (p.Arg1263Ser)
c.3597A>C (p.Arg1199Ser)
c.3372A>C (p.Arg1124Ser)
c.3054A>C (p.Arg1018Ser)
c.3963A>C (p.Arg1321Ser)
13g.101081594C>ACA388650331NALCNc.3818G>T (p.Arg1273Ile)
c.3539G>T (p.Arg1180Ile)
c.3905G>T (p.Arg1302Ile)
c.3731G>T (p.Arg1244Ile)
c.3875G>T (p.Arg1292Ile)
c.3788G>T (p.Arg1263Ile)
c.3596G>T (p.Arg1199Ile)
c.3371G>T (p.Arg1124Ile)
c.3053G>T (p.Arg1018Ile)
c.3962G>T (p.Arg1321Ile)
13g.101081594C>GCA388650333NALCNc.3818G>C (p.Arg1273Thr)
c.3539G>C (p.Arg1180Thr)
c.3905G>C (p.Arg1302Thr)
c.3731G>C (p.Arg1244Thr)
c.3875G>C (p.Arg1292Thr)
c.3788G>C (p.Arg1263Thr)
c.3596G>C (p.Arg1199Thr)
c.3371G>C (p.Arg1124Thr)
c.3053G>C (p.Arg1018Thr)
c.3962G>C (p.Arg1321Thr)
13g.101081594C>TCA388650334NALCNc.3818G>A (p.Arg1273Lys)
c.3539G>A (p.Arg1180Lys)
c.3905G>A (p.Arg1302Lys)
c.3731G>A (p.Arg1244Lys)
c.3875G>A (p.Arg1292Lys)
c.3788G>A (p.Arg1263Lys)
c.3596G>A (p.Arg1199Lys)
c.3371G>A (p.Arg1124Lys)
c.3053G>A (p.Arg1018Lys)
c.3962G>A (p.Arg1321Lys)
13g.101081595T>ACA388650336NALCNc.3817A>T (p.Arg1273Ter)
c.3538A>T (p.Arg1180Ter)
c.3904A>T (p.Arg1302Ter)
c.3730A>T (p.Arg1244Ter)
c.3874A>T (p.Arg1292Ter)
c.3787A>T (p.Arg1263Ter)
c.3595A>T (p.Arg1199Ter)
c.3370A>T (p.Arg1124Ter)
c.3052A>T (p.Arg1018Ter)
c.3961A>T (p.Arg1321Ter)
13g.101081595T>CCA388650337NALCNc.3817A>G (p.Arg1273Gly)
c.3538A>G (p.Arg1180Gly)
c.3904A>G (p.Arg1302Gly)
c.3730A>G (p.Arg1244Gly)
c.3874A>G (p.Arg1292Gly)
c.3787A>G (p.Arg1263Gly)
c.3595A>G (p.Arg1199Gly)
c.3370A>G (p.Arg1124Gly)
c.3052A>G (p.Arg1018Gly)
c.3961A>G (p.Arg1321Gly)
13g.101081595T>GCA484552158NALCNc.3817A>C (p.Arg1273=)
c.3538A>C (p.Arg1180=)
c.3904A>C (p.Arg1302=)
c.3730A>C (p.Arg1244=)
c.3874A>C (p.Arg1292=)
c.3787A>C (p.Arg1263=)
c.3595A>C (p.Arg1199=)
c.3370A>C (p.Arg1124=)
c.3052A>C (p.Arg1018=)
c.3961A>C (p.Arg1321=)
13g.101081596T>ACA388650339NALCNc.3816A>T (p.Arg1272Ser)
c.3537A>T (p.Arg1179Ser)
c.3903A>T (p.Arg1301Ser)
c.3729A>T (p.Arg1243Ser)
c.3873A>T (p.Arg1291Ser)
c.3786A>T (p.Arg1262Ser)
c.3594A>T (p.Arg1198Ser)
c.3369A>T (p.Arg1123Ser)
c.3051A>T (p.Arg1017Ser)
c.3960A>T (p.Arg1320Ser)
13g.101081596T>CCA7035289NALCNc.3816A>G (p.Arg1272=)
c.3537A>G (p.Arg1179=)
c.3903A>G (p.Arg1301=)
c.3729A>G (p.Arg1243=)
c.3873A>G (p.Arg1291=)
c.3786A>G (p.Arg1262=)
c.3594A>G (p.Arg1198=)
c.3369A>G (p.Arg1123=)
c.3051A>G (p.Arg1017=)
c.3960A>G (p.Arg1320=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.101081596T>GCA388650341NALCNc.3816A>C (p.Arg1272Ser)
c.3537A>C (p.Arg1179Ser)
c.3903A>C (p.Arg1301Ser)
c.3729A>C (p.Arg1243Ser)
c.3873A>C (p.Arg1291Ser)
c.3786A>C (p.Arg1262Ser)
c.3594A>C (p.Arg1198Ser)
c.3369A>C (p.Arg1123Ser)
c.3051A>C (p.Arg1017Ser)
c.3960A>C (p.Arg1320Ser)
13g.101081596T=CA2114388856NALCNc.3816A= (p.Arg1272=)
c.3537A= (p.Arg1179=)
c.3903A= (p.Arg1301=)
c.3729A= (p.Arg1243=)
c.3873A= (p.Arg1291=)
c.3786A= (p.Arg1262=)
c.3594A= (p.Arg1198=)
c.3369A= (p.Arg1123=)
c.3051A= (p.Arg1017=)
c.3960A= (p.Arg1320=)
13g.101081597C>ACA388650343NALCNc.3815G>T (p.Arg1272Ile)
c.3536G>T (p.Arg1179Ile)
c.3902G>T (p.Arg1301Ile)
c.3728G>T (p.Arg1243Ile)
c.3872G>T (p.Arg1291Ile)
c.3785G>T (p.Arg1262Ile)
c.3593G>T (p.Arg1198Ile)
c.3368G>T (p.Arg1123Ile)
c.3050G>T (p.Arg1017Ile)
c.3959G>T (p.Arg1320Ile)
13g.101081597C>GCA388650344NALCNc.3815G>C (p.Arg1272Thr)
c.3536G>C (p.Arg1179Thr)
c.3902G>C (p.Arg1301Thr)
c.3728G>C (p.Arg1243Thr)
c.3872G>C (p.Arg1291Thr)
c.3785G>C (p.Arg1262Thr)
c.3593G>C (p.Arg1198Thr)
c.3368G>C (p.Arg1123Thr)
c.3050G>C (p.Arg1017Thr)
c.3959G>C (p.Arg1320Thr)
13g.101081597C>TCA388650346NALCNc.3815G>A (p.Arg1272Lys)
c.3536G>A (p.Arg1179Lys)
c.3902G>A (p.Arg1301Lys)
c.3728G>A (p.Arg1243Lys)
c.3872G>A (p.Arg1291Lys)
c.3785G>A (p.Arg1262Lys)
c.3593G>A (p.Arg1198Lys)
c.3368G>A (p.Arg1123Lys)
c.3050G>A (p.Arg1017Lys)
c.3959G>A (p.Arg1320Lys)
13g.101081598T>ACA388650348NALCNc.3814A>T (p.Arg1272Ter)
c.3535A>T (p.Arg1179Ter)
c.3901A>T (p.Arg1301Ter)
c.3727A>T (p.Arg1243Ter)
c.3871A>T (p.Arg1291Ter)
c.3784A>T (p.Arg1262Ter)
c.3592A>T (p.Arg1198Ter)
c.3367A>T (p.Arg1123Ter)
c.3049A>T (p.Arg1017Ter)
c.3958A>T (p.Arg1320Ter)
13g.101081598T>CCA388650349NALCNc.3814A>G (p.Arg1272Gly)
c.3535A>G (p.Arg1179Gly)
c.3901A>G (p.Arg1301Gly)
c.3727A>G (p.Arg1243Gly)
c.3871A>G (p.Arg1291Gly)
c.3784A>G (p.Arg1262Gly)
c.3592A>G (p.Arg1198Gly)
c.3367A>G (p.Arg1123Gly)
c.3049A>G (p.Arg1017Gly)
c.3958A>G (p.Arg1320Gly)
13g.101081598T>GCA484552174NALCNc.3814A>C (p.Arg1272=)
c.3535A>C (p.Arg1179=)
c.3901A>C (p.Arg1301=)
c.3727A>C (p.Arg1243=)
c.3871A>C (p.Arg1291=)
c.3784A>C (p.Arg1262=)
c.3592A>C (p.Arg1198=)
c.3367A>C (p.Arg1123=)
c.3049A>C (p.Arg1017=)
c.3958A>C (p.Arg1320=)
13g.101081599G>ACA484552177NALCNc.3813C>T (p.Ser1271=)
c.3534C>T (p.Ser1178=)
c.3900C>T (p.Ser1300=)
c.3726C>T (p.Ser1242=)
c.3870C>T (p.Ser1290=)
c.3783C>T (p.Ser1261=)
c.3591C>T (p.Ser1197=)
c.3366C>T (p.Ser1122=)
c.3048C>T (p.Ser1016=)
c.3957C>T (p.Ser1319=)
dbSNP gnomAD v3 gnomAD v4
13g.101081599G>CCA388650353NALCNc.3813C>G (p.Ser1271Arg)
c.3534C>G (p.Ser1178Arg)
c.3900C>G (p.Ser1300Arg)
c.3726C>G (p.Ser1242Arg)
c.3870C>G (p.Ser1290Arg)
c.3783C>G (p.Ser1261Arg)
c.3591C>G (p.Ser1197Arg)
c.3366C>G (p.Ser1122Arg)
c.3048C>G (p.Ser1016Arg)
c.3957C>G (p.Ser1319Arg)
13g.101081599G=CA2114388857NALCNc.3813C= (p.Ser1271=)
c.3534C= (p.Ser1178=)
c.3900C= (p.Ser1300=)
c.3726C= (p.Ser1242=)
c.3870C= (p.Ser1290=)
c.3783C= (p.Ser1261=)
c.3591C= (p.Ser1197=)
c.3366C= (p.Ser1122=)
c.3048C= (p.Ser1016=)
c.3957C= (p.Ser1319=)
13g.101081599G>TCA388650351NALCNc.3813C>A (p.Ser1271Arg)
c.3534C>A (p.Ser1178Arg)
c.3900C>A (p.Ser1300Arg)
c.3726C>A (p.Ser1242Arg)
c.3870C>A (p.Ser1290Arg)
c.3783C>A (p.Ser1261Arg)
c.3591C>A (p.Ser1197Arg)
c.3366C>A (p.Ser1122Arg)
c.3048C>A (p.Ser1016Arg)
c.3957C>A (p.Ser1319Arg)
13g.101081600C>ACA388650355NALCNc.3812G>T (p.Ser1271Ile)
c.3533G>T (p.Ser1178Ile)
c.3899G>T (p.Ser1300Ile)
c.3725G>T (p.Ser1242Ile)
c.3869G>T (p.Ser1290Ile)
c.3782G>T (p.Ser1261Ile)
c.3590G>T (p.Ser1197Ile)
c.3365G>T (p.Ser1122Ile)
c.3047G>T (p.Ser1016Ile)
c.3956G>T (p.Ser1319Ile)
13g.101081600C>GCA388650356NALCNc.3812G>C (p.Ser1271Thr)
c.3533G>C (p.Ser1178Thr)
c.3899G>C (p.Ser1300Thr)
c.3725G>C (p.Ser1242Thr)
c.3869G>C (p.Ser1290Thr)
c.3782G>C (p.Ser1261Thr)
c.3590G>C (p.Ser1197Thr)
c.3365G>C (p.Ser1122Thr)
c.3047G>C (p.Ser1016Thr)
c.3956G>C (p.Ser1319Thr)
13g.101081600C>TCA388650358NALCNc.3812G>A (p.Ser1271Asn)
c.3533G>A (p.Ser1178Asn)
c.3899G>A (p.Ser1300Asn)
c.3725G>A (p.Ser1242Asn)
c.3869G>A (p.Ser1290Asn)
c.3782G>A (p.Ser1261Asn)
c.3590G>A (p.Ser1197Asn)
c.3365G>A (p.Ser1122Asn)
c.3047G>A (p.Ser1016Asn)
c.3956G>A (p.Ser1319Asn)
13g.101081601T>ACA388650359NALCNc.3811A>T (p.Ser1271Cys)
c.3532A>T (p.Ser1178Cys)
c.3898A>T (p.Ser1300Cys)
c.3724A>T (p.Ser1242Cys)
c.3868A>T (p.Ser1290Cys)
c.3781A>T (p.Ser1261Cys)
c.3589A>T (p.Ser1197Cys)
c.3364A>T (p.Ser1122Cys)
c.3046A>T (p.Ser1016Cys)
c.3955A>T (p.Ser1319Cys)
13g.101081601T>CCA388650361NALCNc.3811A>G (p.Ser1271Gly)
c.3532A>G (p.Ser1178Gly)
c.3898A>G (p.Ser1300Gly)
c.3724A>G (p.Ser1242Gly)
c.3868A>G (p.Ser1290Gly)
c.3781A>G (p.Ser1261Gly)
c.3589A>G (p.Ser1197Gly)
c.3364A>G (p.Ser1122Gly)
c.3046A>G (p.Ser1016Gly)
c.3955A>G (p.Ser1319Gly)
13g.101081601T>GCA388650362NALCNc.3811A>C (p.Ser1271Arg)
c.3532A>C (p.Ser1178Arg)
c.3898A>C (p.Ser1300Arg)
c.3724A>C (p.Ser1242Arg)
c.3868A>C (p.Ser1290Arg)
c.3781A>C (p.Ser1261Arg)
c.3589A>C (p.Ser1197Arg)
c.3364A>C (p.Ser1122Arg)
c.3046A>C (p.Ser1016Arg)
c.3955A>C (p.Ser1319Arg)
13g.101081602T>ACA388650364NALCNc.3810A>T (p.Gln1270His)
c.3531A>T (p.Gln1177His)
c.3897A>T (p.Gln1299His)
c.3723A>T (p.Gln1241His)
c.3867A>T (p.Gln1289His)
c.3780A>T (p.Gln1260His)
c.3588A>T (p.Gln1196His)
c.3363A>T (p.Gln1121His)
c.3045A>T (p.Gln1015His)
c.3954A>T (p.Gln1318His)
13g.101081602T>CCA484552185NALCNc.3810A>G (p.Gln1270=)
c.3531A>G (p.Gln1177=)
c.3897A>G (p.Gln1299=)
c.3723A>G (p.Gln1241=)
c.3867A>G (p.Gln1289=)
c.3780A>G (p.Gln1260=)
c.3588A>G (p.Gln1196=)
c.3363A>G (p.Gln1121=)
c.3045A>G (p.Gln1015=)
c.3954A>G (p.Gln1318=)
13g.101081602T>GCA388650365NALCNc.3810A>C (p.Gln1270His)
c.3531A>C (p.Gln1177His)
c.3897A>C (p.Gln1299His)
c.3723A>C (p.Gln1241His)
c.3867A>C (p.Gln1289His)
c.3780A>C (p.Gln1260His)
c.3588A>C (p.Gln1196His)
c.3363A>C (p.Gln1121His)
c.3045A>C (p.Gln1015His)
c.3954A>C (p.Gln1318His)
13g.101081603T>ACA388650367NALCNc.3809A>T (p.Gln1270Leu)
c.3530A>T (p.Gln1177Leu)
c.3896A>T (p.Gln1299Leu)
c.3722A>T (p.Gln1241Leu)
c.3866A>T (p.Gln1289Leu)
c.3779A>T (p.Gln1260Leu)
c.3587A>T (p.Gln1196Leu)
c.3362A>T (p.Gln1121Leu)
c.3044A>T (p.Gln1015Leu)
c.3953A>T (p.Gln1318Leu)
13g.101081603T>CCA388650369NALCNc.3809A>G (p.Gln1270Arg)
c.3530A>G (p.Gln1177Arg)
c.3896A>G (p.Gln1299Arg)
c.3722A>G (p.Gln1241Arg)
c.3866A>G (p.Gln1289Arg)
c.3779A>G (p.Gln1260Arg)
c.3587A>G (p.Gln1196Arg)
c.3362A>G (p.Gln1121Arg)
c.3044A>G (p.Gln1015Arg)
c.3953A>G (p.Gln1318Arg)
13g.101081603T>GCA388650370NALCNc.3809A>C (p.Gln1270Pro)
c.3530A>C (p.Gln1177Pro)
c.3896A>C (p.Gln1299Pro)
c.3722A>C (p.Gln1241Pro)
c.3866A>C (p.Gln1289Pro)
c.3779A>C (p.Gln1260Pro)
c.3587A>C (p.Gln1196Pro)
c.3362A>C (p.Gln1121Pro)
c.3044A>C (p.Gln1015Pro)
c.3953A>C (p.Gln1318Pro)
13g.101081604G>ACA388650372NALCNc.3808C>T (p.Gln1270Ter)
c.3529C>T (p.Gln1177Ter)
c.3895C>T (p.Gln1299Ter)
c.3721C>T (p.Gln1241Ter)
c.3865C>T (p.Gln1289Ter)
c.3778C>T (p.Gln1260Ter)
c.3586C>T (p.Gln1196Ter)
c.3361C>T (p.Gln1121Ter)
c.3043C>T (p.Gln1015Ter)
c.3952C>T (p.Gln1318Ter)
ClinVar dbSNP
13g.101081604G>CCA388650373NALCNc.3808C>G (p.Gln1270Glu)
c.3529C>G (p.Gln1177Glu)
c.3895C>G (p.Gln1299Glu)
c.3721C>G (p.Gln1241Glu)
c.3865C>G (p.Gln1289Glu)
c.3778C>G (p.Gln1260Glu)
c.3586C>G (p.Gln1196Glu)
c.3361C>G (p.Gln1121Glu)
c.3043C>G (p.Gln1015Glu)
c.3952C>G (p.Gln1318Glu)
13g.101081604G=CA2114388858NALCNc.3808C= (p.Gln1270=)
c.3529C= (p.Gln1177=)
c.3895C= (p.Gln1299=)
c.3721C= (p.Gln1241=)
c.3865C= (p.Gln1289=)
c.3778C= (p.Gln1260=)
c.3586C= (p.Gln1196=)
c.3361C= (p.Gln1121=)
c.3043C= (p.Gln1015=)
c.3952C= (p.Gln1318=)
13g.101081604G>TCA388650375NALCNc.3808C>A (p.Gln1270Lys)
c.3529C>A (p.Gln1177Lys)
c.3895C>A (p.Gln1299Lys)
c.3721C>A (p.Gln1241Lys)
c.3865C>A (p.Gln1289Lys)
c.3778C>A (p.Gln1260Lys)
c.3586C>A (p.Gln1196Lys)
c.3361C>A (p.Gln1121Lys)
c.3043C>A (p.Gln1015Lys)
c.3952C>A (p.Gln1318Lys)
dbSNP COSMIC
13g.101081605C>ACA388650379NALCNc.3807G>T (p.Trp1269Cys)
c.3528G>T (p.Trp1176Cys)
c.3894G>T (p.Trp1298Cys)
c.3720G>T (p.Trp1240Cys)
c.3864G>T (p.Trp1288Cys)
c.3777G>T (p.Trp1259Cys)
c.3585G>T (p.Trp1195Cys)
c.3360G>T (p.Trp1120Cys)
c.3042G>T (p.Trp1014Cys)
c.3951G>T (p.Trp1317Cys)
COSMIC
13g.101081605C=CA2114388859NALCNc.3807G= (p.Trp1269=)
c.3528G= (p.Trp1176=)
c.3894G= (p.Trp1298=)
c.3720G= (p.Trp1240=)
c.3864G= (p.Trp1288=)
c.3777G= (p.Trp1259=)
c.3585G= (p.Trp1195=)
c.3360G= (p.Trp1120=)
c.3042G= (p.Trp1014=)
c.3951G= (p.Trp1317=)
13g.101081605C>GCA388650378NALCNc.3807G>C (p.Trp1269Cys)
c.3528G>C (p.Trp1176Cys)
c.3894G>C (p.Trp1298Cys)
c.3720G>C (p.Trp1240Cys)
c.3864G>C (p.Trp1288Cys)
c.3777G>C (p.Trp1259Cys)
c.3585G>C (p.Trp1195Cys)
c.3360G>C (p.Trp1120Cys)
c.3042G>C (p.Trp1014Cys)
c.3951G>C (p.Trp1317Cys)
13g.101081605C>TCA388650377NALCNc.3807G>A (p.Trp1269Ter)
c.3528G>A (p.Trp1176Ter)
c.3894G>A (p.Trp1298Ter)
c.3720G>A (p.Trp1240Ter)
c.3864G>A (p.Trp1288Ter)
c.3777G>A (p.Trp1259Ter)
c.3585G>A (p.Trp1195Ter)
c.3360G>A (p.Trp1120Ter)
c.3042G>A (p.Trp1014Ter)
c.3951G>A (p.Trp1317Ter)
dbSNP gnomAD v2
13g.101081606C>ACA388650380NALCNc.3806G>T (p.Trp1269Leu)
c.3527G>T (p.Trp1176Leu)
c.3893G>T (p.Trp1298Leu)
c.3719G>T (p.Trp1240Leu)
c.3863G>T (p.Trp1288Leu)
c.3776G>T (p.Trp1259Leu)
c.3584G>T (p.Trp1195Leu)
c.3359G>T (p.Trp1120Leu)
c.3041G>T (p.Trp1014Leu)
c.3950G>T (p.Trp1317Leu)
13g.101081606C>GCA388650381NALCNc.3806G>C (p.Trp1269Ser)
c.3527G>C (p.Trp1176Ser)
c.3893G>C (p.Trp1298Ser)
c.3719G>C (p.Trp1240Ser)
c.3863G>C (p.Trp1288Ser)
c.3776G>C (p.Trp1259Ser)
c.3584G>C (p.Trp1195Ser)
c.3359G>C (p.Trp1120Ser)
c.3041G>C (p.Trp1014Ser)
c.3950G>C (p.Trp1317Ser)
13g.101081606C>TCA388650382NALCNc.3806G>A (p.Trp1269Ter)
c.3527G>A (p.Trp1176Ter)
c.3893G>A (p.Trp1298Ter)
c.3719G>A (p.Trp1240Ter)
c.3863G>A (p.Trp1288Ter)
c.3776G>A (p.Trp1259Ter)
c.3584G>A (p.Trp1195Ter)
c.3359G>A (p.Trp1120Ter)
c.3041G>A (p.Trp1014Ter)
c.3950G>A (p.Trp1317Ter)
13g.101081607A=CA2114388860NALCNc.3805T= (p.Trp1269=)
c.3526T= (p.Trp1176=)
c.3892T= (p.Trp1298=)
c.3718T= (p.Trp1240=)
c.3862T= (p.Trp1288=)
c.3775T= (p.Trp1259=)
c.3583T= (p.Trp1195=)
c.3358T= (p.Trp1120=)
c.3040T= (p.Trp1014=)
c.3949T= (p.Trp1317=)
13g.101081607A>CCA388650383NALCNc.3805T>G (p.Trp1269Gly)
c.3526T>G (p.Trp1176Gly)
c.3892T>G (p.Trp1298Gly)
c.3718T>G (p.Trp1240Gly)
c.3862T>G (p.Trp1288Gly)
c.3775T>G (p.Trp1259Gly)
c.3583T>G (p.Trp1195Gly)
c.3358T>G (p.Trp1120Gly)
c.3040T>G (p.Trp1014Gly)
c.3949T>G (p.Trp1317Gly)
13g.101081607A>GCA7035290NALCNc.3805T>C (p.Trp1269Arg)
c.3526T>C (p.Trp1176Arg)
c.3892T>C (p.Trp1298Arg)
c.3718T>C (p.Trp1240Arg)
c.3862T>C (p.Trp1288Arg)
c.3775T>C (p.Trp1259Arg)
c.3583T>C (p.Trp1195Arg)
c.3358T>C (p.Trp1120Arg)
c.3040T>C (p.Trp1014Arg)
c.3949T>C (p.Trp1317Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.101081607A>TCA388650384NALCNc.3805T>A (p.Trp1269Arg)
c.3526T>A (p.Trp1176Arg)
c.3892T>A (p.Trp1298Arg)
c.3718T>A (p.Trp1240Arg)
c.3862T>A (p.Trp1288Arg)
c.3775T>A (p.Trp1259Arg)
c.3583T>A (p.Trp1195Arg)
c.3358T>A (p.Trp1120Arg)
c.3040T>A (p.Trp1014Arg)
c.3949T>A (p.Trp1317Arg)
13g.101081608G>ACA484552218NALCNc.3804C>T (p.Phe1268=)
c.3525C>T (p.Phe1175=)
c.3891C>T (p.Phe1297=)
c.3717C>T (p.Phe1239=)
c.3861C>T (p.Phe1287=)
c.3774C>T (p.Phe1258=)
c.3582C>T (p.Phe1194=)
c.3357C>T (p.Phe1119=)
c.3039C>T (p.Phe1013=)
c.3948C>T (p.Phe1316=)
gnomAD v4 COSMIC
13g.101081608G>CCA388650385NALCNc.3804C>G (p.Phe1268Leu)
c.3525C>G (p.Phe1175Leu)
c.3891C>G (p.Phe1297Leu)
c.3717C>G (p.Phe1239Leu)
c.3861C>G (p.Phe1287Leu)
c.3774C>G (p.Phe1258Leu)
c.3582C>G (p.Phe1194Leu)
c.3357C>G (p.Phe1119Leu)
c.3039C>G (p.Phe1013Leu)
c.3948C>G (p.Phe1316Leu)
13g.101081608G>TCA388650386NALCNc.3804C>A (p.Phe1268Leu)
c.3525C>A (p.Phe1175Leu)
c.3891C>A (p.Phe1297Leu)
c.3717C>A (p.Phe1239Leu)
c.3861C>A (p.Phe1287Leu)
c.3774C>A (p.Phe1258Leu)
c.3582C>A (p.Phe1194Leu)
c.3357C>A (p.Phe1119Leu)
c.3039C>A (p.Phe1013Leu)
c.3948C>A (p.Phe1316Leu)
13g.101081609A>CCA388650388NALCNc.3803T>G (p.Phe1268Cys)
c.3524T>G (p.Phe1175Cys)
c.3890T>G (p.Phe1297Cys)
c.3716T>G (p.Phe1239Cys)
c.3860T>G (p.Phe1287Cys)
c.3773T>G (p.Phe1258Cys)
c.3581T>G (p.Phe1194Cys)
c.3356T>G (p.Phe1119Cys)
c.3038T>G (p.Phe1013Cys)
c.3947T>G (p.Phe1316Cys)
13g.101081609A>GCA388650389NALCNc.3803T>C (p.Phe1268Ser)
c.3524T>C (p.Phe1175Ser)
c.3890T>C (p.Phe1297Ser)
c.3716T>C (p.Phe1239Ser)
c.3860T>C (p.Phe1287Ser)
c.3773T>C (p.Phe1258Ser)
c.3581T>C (p.Phe1194Ser)
c.3356T>C (p.Phe1119Ser)
c.3038T>C (p.Phe1013Ser)
c.3947T>C (p.Phe1316Ser)
13g.101081609A>TCA388650391NALCNc.3803T>A (p.Phe1268Tyr)
c.3524T>A (p.Phe1175Tyr)
c.3890T>A (p.Phe1297Tyr)
c.3716T>A (p.Phe1239Tyr)
c.3860T>A (p.Phe1287Tyr)
c.3773T>A (p.Phe1258Tyr)
c.3581T>A (p.Phe1194Tyr)
c.3356T>A (p.Phe1119Tyr)
c.3038T>A (p.Phe1013Tyr)
c.3947T>A (p.Phe1316Tyr)
13g.101081610A>CCA388650392NALCNc.3802T>G (p.Phe1268Val)
c.3523T>G (p.Phe1175Val)
c.3889T>G (p.Phe1297Val)
c.3715T>G (p.Phe1239Val)
c.3859T>G (p.Phe1287Val)
c.3772T>G (p.Phe1258Val)
c.3580T>G (p.Phe1194Val)
c.3355T>G (p.Phe1119Val)
c.3037T>G (p.Phe1013Val)
c.3946T>G (p.Phe1316Val)
13g.101081610A>GCA388650393NALCNc.3802T>C (p.Phe1268Leu)
c.3523T>C (p.Phe1175Leu)
c.3889T>C (p.Phe1297Leu)
c.3715T>C (p.Phe1239Leu)
c.3859T>C (p.Phe1287Leu)
c.3772T>C (p.Phe1258Leu)
c.3580T>C (p.Phe1194Leu)
c.3355T>C (p.Phe1119Leu)
c.3037T>C (p.Phe1013Leu)
c.3946T>C (p.Phe1316Leu)
gnomAD v4
13g.101081610A>TCA388650394NALCNc.3802T>A (p.Phe1268Ile)
c.3523T>A (p.Phe1175Ile)
c.3889T>A (p.Phe1297Ile)
c.3715T>A (p.Phe1239Ile)
c.3859T>A (p.Phe1287Ile)
c.3772T>A (p.Phe1258Ile)
c.3580T>A (p.Phe1194Ile)
c.3355T>A (p.Phe1119Ile)
c.3037T>A (p.Phe1013Ile)
c.3946T>A (p.Phe1316Ile)
13g.101081611G>ACA484552238NALCNc.3801C>T (p.Gly1267=)
c.3522C>T (p.Gly1174=)
c.3888C>T (p.Gly1296=)
c.3714C>T (p.Gly1238=)
c.3858C>T (p.Gly1286=)
c.3771C>T (p.Gly1257=)
c.3579C>T (p.Gly1193=)
c.3354C>T (p.Gly1118=)
c.3036C>T (p.Gly1012=)
c.3945C>T (p.Gly1315=)
COSMIC
13g.101081611G>CCA484552240NALCNc.3801C>G (p.Gly1267=)
c.3522C>G (p.Gly1174=)
c.3888C>G (p.Gly1296=)
c.3714C>G (p.Gly1238=)
c.3858C>G (p.Gly1286=)
c.3771C>G (p.Gly1257=)
c.3579C>G (p.Gly1193=)
c.3354C>G (p.Gly1118=)
c.3036C>G (p.Gly1012=)
c.3945C>G (p.Gly1315=)
13g.101081611G>TCA484552242NALCNc.3801C>A (p.Gly1267=)
c.3522C>A (p.Gly1174=)
c.3888C>A (p.Gly1296=)
c.3714C>A (p.Gly1238=)
c.3858C>A (p.Gly1286=)
c.3771C>A (p.Gly1257=)
c.3579C>A (p.Gly1193=)
c.3354C>A (p.Gly1118=)
c.3036C>A (p.Gly1012=)
c.3945C>A (p.Gly1315=)
13g.101081612C>ACA388650398NALCNc.3800G>T (p.Gly1267Val)
c.3521G>T (p.Gly1174Val)
c.3887G>T (p.Gly1296Val)
c.3713G>T (p.Gly1238Val)
c.3857G>T (p.Gly1286Val)
c.3770G>T (p.Gly1257Val)
c.3578G>T (p.Gly1193Val)
c.3353G>T (p.Gly1118Val)
c.3035G>T (p.Gly1012Val)
c.3944G>T (p.Gly1315Val)
13g.101081612C>GCA388650399NALCNc.3800G>C (p.Gly1267Ala)
c.3521G>C (p.Gly1174Ala)
c.3887G>C (p.Gly1296Ala)
c.3713G>C (p.Gly1238Ala)
c.3857G>C (p.Gly1286Ala)
c.3770G>C (p.Gly1257Ala)
c.3578G>C (p.Gly1193Ala)
c.3353G>C (p.Gly1118Ala)
c.3035G>C (p.Gly1012Ala)
c.3944G>C (p.Gly1315Ala)
13g.101081612C>TCA388650396NALCNc.3800G>A (p.Gly1267Asp)
c.3521G>A (p.Gly1174Asp)
c.3887G>A (p.Gly1296Asp)
c.3713G>A (p.Gly1238Asp)
c.3857G>A (p.Gly1286Asp)
c.3770G>A (p.Gly1257Asp)
c.3578G>A (p.Gly1193Asp)
c.3353G>A (p.Gly1118Asp)
c.3035G>A (p.Gly1012Asp)
c.3944G>A (p.Gly1315Asp)
13g.101081613C>ACA388650401NALCNc.3799G>T (p.Gly1267Cys)
c.3520G>T (p.Gly1174Cys)
c.3886G>T (p.Gly1296Cys)
c.3712G>T (p.Gly1238Cys)
c.3856G>T (p.Gly1286Cys)
c.3769G>T (p.Gly1257Cys)
c.3577G>T (p.Gly1193Cys)
c.3352G>T (p.Gly1118Cys)
c.3034G>T (p.Gly1012Cys)
c.3943G>T (p.Gly1315Cys)
13g.101081613C>GCA388650402NALCNc.3799G>C (p.Gly1267Arg)
c.3520G>C (p.Gly1174Arg)
c.3886G>C (p.Gly1296Arg)
c.3712G>C (p.Gly1238Arg)
c.3856G>C (p.Gly1286Arg)
c.3769G>C (p.Gly1257Arg)
c.3577G>C (p.Gly1193Arg)
c.3352G>C (p.Gly1118Arg)
c.3034G>C (p.Gly1012Arg)
c.3943G>C (p.Gly1315Arg)
13g.101081613C>TCA388650403NALCNc.3799G>A (p.Gly1267Ser)
c.3520G>A (p.Gly1174Ser)
c.3886G>A (p.Gly1296Ser)
c.3712G>A (p.Gly1238Ser)
c.3856G>A (p.Gly1286Ser)
c.3769G>A (p.Gly1257Ser)
c.3577G>A (p.Gly1193Ser)
c.3352G>A (p.Gly1118Ser)
c.3034G>A (p.Gly1012Ser)
c.3943G>A (p.Gly1315Ser)
13g.101081614A>CCA484552263NALCNc.3798T>G (p.Ala1266=)
c.3519T>G (p.Ala1173=)
c.3885T>G (p.Ala1295=)
c.3711T>G (p.Ala1237=)
c.3855T>G (p.Ala1285=)
c.3768T>G (p.Ala1256=)
c.3576T>G (p.Ala1192=)
c.3351T>G (p.Ala1117=)
c.3033T>G (p.Ala1011=)
c.3942T>G (p.Ala1314=)
13g.101081614A>GCA484552265NALCNc.3798T>C (p.Ala1266=)
c.3519T>C (p.Ala1173=)
c.3885T>C (p.Ala1295=)
c.3711T>C (p.Ala1237=)
c.3855T>C (p.Ala1285=)
c.3768T>C (p.Ala1256=)
c.3576T>C (p.Ala1192=)
c.3351T>C (p.Ala1117=)
c.3033T>C (p.Ala1011=)
c.3942T>C (p.Ala1314=)
13g.101081614A>TCA484552267NALCNc.3798T>A (p.Ala1266=)
c.3519T>A (p.Ala1173=)
c.3885T>A (p.Ala1295=)
c.3711T>A (p.Ala1237=)
c.3855T>A (p.Ala1285=)
c.3768T>A (p.Ala1256=)
c.3576T>A (p.Ala1192=)
c.3351T>A (p.Ala1117=)
c.3033T>A (p.Ala1011=)
c.3942T>A (p.Ala1314=)
13g.101081615G>ACA388650404NALCNc.3797C>T (p.Ala1266Val)
c.3518C>T (p.Ala1173Val)
c.3884C>T (p.Ala1295Val)
c.3710C>T (p.Ala1237Val)
c.3854C>T (p.Ala1285Val)
c.3767C>T (p.Ala1256Val)
c.3575C>T (p.Ala1192Val)
c.3350C>T (p.Ala1117Val)
c.3032C>T (p.Ala1011Val)
c.3941C>T (p.Ala1314Val)
13g.101081615G>CCA388650406NALCNc.3797C>G (p.Ala1266Gly)
c.3518C>G (p.Ala1173Gly)
c.3884C>G (p.Ala1295Gly)
c.3710C>G (p.Ala1237Gly)
c.3854C>G (p.Ala1285Gly)
c.3767C>G (p.Ala1256Gly)
c.3575C>G (p.Ala1192Gly)
c.3350C>G (p.Ala1117Gly)
c.3032C>G (p.Ala1011Gly)
c.3941C>G (p.Ala1314Gly)
13g.101081615G>TCA388650408NALCNc.3797C>A (p.Ala1266Asp)
c.3518C>A (p.Ala1173Asp)
c.3884C>A (p.Ala1295Asp)
c.3710C>A (p.Ala1237Asp)
c.3854C>A (p.Ala1285Asp)
c.3767C>A (p.Ala1256Asp)
c.3575C>A (p.Ala1192Asp)
c.3350C>A (p.Ala1117Asp)
c.3032C>A (p.Ala1011Asp)
c.3941C>A (p.Ala1314Asp)
13g.101081616C>ACA388650409NALCNc.3796G>T (p.Ala1266Ser)
c.3517G>T (p.Ala1173Ser)
c.3883G>T (p.Ala1295Ser)
c.3709G>T (p.Ala1237Ser)
c.3853G>T (p.Ala1285Ser)
c.3766G>T (p.Ala1256Ser)
c.3574G>T (p.Ala1192Ser)
c.3349G>T (p.Ala1117Ser)
c.3031G>T (p.Ala1011Ser)
c.3940G>T (p.Ala1314Ser)
13g.101081616C>GCA388650410NALCNc.3796G>C (p.Ala1266Pro)
c.3517G>C (p.Ala1173Pro)
c.3883G>C (p.Ala1295Pro)
c.3709G>C (p.Ala1237Pro)
c.3853G>C (p.Ala1285Pro)
c.3766G>C (p.Ala1256Pro)
c.3574G>C (p.Ala1192Pro)
c.3349G>C (p.Ala1117Pro)
c.3031G>C (p.Ala1011Pro)
c.3940G>C (p.Ala1314Pro)
13g.101081616C>TCA388650411NALCNc.3796G>A (p.Ala1266Thr)
c.3517G>A (p.Ala1173Thr)
c.3883G>A (p.Ala1295Thr)
c.3709G>A (p.Ala1237Thr)
c.3853G>A (p.Ala1285Thr)
c.3766G>A (p.Ala1256Thr)
c.3574G>A (p.Ala1192Thr)
c.3349G>A (p.Ala1117Thr)
c.3031G>A (p.Ala1011Thr)
c.3940G>A (p.Ala1314Thr)
13g.101081617A=CA2114388861NALCNc.3795T= (p.Pro1265=)
c.3516T= (p.Pro1172=)
c.3882T= (p.Pro1294=)
c.3708T= (p.Pro1236=)
c.3852T= (p.Pro1284=)
c.3765T= (p.Pro1255=)
c.3573T= (p.Pro1191=)
c.3348T= (p.Pro1116=)
c.3030T= (p.Pro1010=)
c.3939T= (p.Pro1313=)
13g.101081617A>CCA484552281NALCNc.3795T>G (p.Pro1265=)
c.3516T>G (p.Pro1172=)
c.3882T>G (p.Pro1294=)
c.3708T>G (p.Pro1236=)
c.3852T>G (p.Pro1284=)
c.3765T>G (p.Pro1255=)
c.3573T>G (p.Pro1191=)
c.3348T>G (p.Pro1116=)
c.3030T>G (p.Pro1010=)
c.3939T>G (p.Pro1313=)
dbSNP gnomAD v2 gnomAD v4
13g.101081617A>GCA484552297NALCNc.3795T>C (p.Pro1265=)
c.3516T>C (p.Pro1172=)
c.3882T>C (p.Pro1294=)
c.3708T>C (p.Pro1236=)
c.3852T>C (p.Pro1284=)
c.3765T>C (p.Pro1255=)
c.3573T>C (p.Pro1191=)
c.3348T>C (p.Pro1116=)
c.3030T>C (p.Pro1010=)
c.3939T>C (p.Pro1313=)
13g.101081617A>TCA484552291NALCNc.3795T>A (p.Pro1265=)
c.3516T>A (p.Pro1172=)
c.3882T>A (p.Pro1294=)
c.3708T>A (p.Pro1236=)
c.3852T>A (p.Pro1284=)
c.3765T>A (p.Pro1255=)
c.3573T>A (p.Pro1191=)
c.3348T>A (p.Pro1116=)
c.3030T>A (p.Pro1010=)
c.3939T>A (p.Pro1313=)
gnomAD v4
13g.101081618G>ACA388650412NALCNc.3794C>T (p.Pro1265Leu)
c.3515C>T (p.Pro1172Leu)
c.3881C>T (p.Pro1294Leu)
c.3707C>T (p.Pro1236Leu)
c.3851C>T (p.Pro1284Leu)
c.3764C>T (p.Pro1255Leu)
c.3572C>T (p.Pro1191Leu)
c.3347C>T (p.Pro1116Leu)
c.3029C>T (p.Pro1010Leu)
c.3938C>T (p.Pro1313Leu)
13g.101081618G>CCA388650414NALCNc.3794C>G (p.Pro1265Arg)
c.3515C>G (p.Pro1172Arg)
c.3881C>G (p.Pro1294Arg)
c.3707C>G (p.Pro1236Arg)
c.3851C>G (p.Pro1284Arg)
c.3764C>G (p.Pro1255Arg)
c.3572C>G (p.Pro1191Arg)
c.3347C>G (p.Pro1116Arg)
c.3029C>G (p.Pro1010Arg)
c.3938C>G (p.Pro1313Arg)
13g.101081618G>TCA388650415NALCNc.3794C>A (p.Pro1265His)
c.3515C>A (p.Pro1172His)
c.3881C>A (p.Pro1294His)
c.3707C>A (p.Pro1236His)
c.3851C>A (p.Pro1284His)
c.3764C>A (p.Pro1255His)
c.3572C>A (p.Pro1191His)
c.3347C>A (p.Pro1116His)
c.3029C>A (p.Pro1010His)
c.3938C>A (p.Pro1313His)
13g.101081619G>ACA388650418NALCNc.3793C>T (p.Pro1265Ser)
c.3514C>T (p.Pro1172Ser)
c.3880C>T (p.Pro1294Ser)
c.3706C>T (p.Pro1236Ser)
c.3850C>T (p.Pro1284Ser)
c.3763C>T (p.Pro1255Ser)
c.3571C>T (p.Pro1191Ser)
c.3346C>T (p.Pro1116Ser)
c.3028C>T (p.Pro1010Ser)
c.3937C>T (p.Pro1313Ser)
13g.101081619G>CCA388650419NALCNc.3793C>G (p.Pro1265Ala)
c.3514C>G (p.Pro1172Ala)
c.3880C>G (p.Pro1294Ala)
c.3706C>G (p.Pro1236Ala)
c.3850C>G (p.Pro1284Ala)
c.3763C>G (p.Pro1255Ala)
c.3571C>G (p.Pro1191Ala)
c.3346C>G (p.Pro1116Ala)
c.3028C>G (p.Pro1010Ala)
c.3937C>G (p.Pro1313Ala)
13g.101081619G>TCA388650417NALCNc.3793C>A (p.Pro1265Thr)
c.3514C>A (p.Pro1172Thr)
c.3880C>A (p.Pro1294Thr)
c.3706C>A (p.Pro1236Thr)
c.3850C>A (p.Pro1284Thr)
c.3763C>A (p.Pro1255Thr)
c.3571C>A (p.Pro1191Thr)
c.3346C>A (p.Pro1116Thr)
c.3028C>A (p.Pro1010Thr)
c.3937C>A (p.Pro1313Thr)
13g.101081620C>ACA484552312NALCNc.3792G>T (p.Ser1264=)
c.3513G>T (p.Ser1171=)
c.3879G>T (p.Ser1293=)
c.3705G>T (p.Ser1235=)
c.3849G>T (p.Ser1283=)
c.3762G>T (p.Ser1254=)
c.3570G>T (p.Ser1190=)
c.3345G>T (p.Ser1115=)
c.3027G>T (p.Ser1009=)
c.3936G>T (p.Ser1312=)
13g.101081620C=CA2114388862NALCNc.3792G= (p.Ser1264=)
c.3513G= (p.Ser1171=)
c.3879G= (p.Ser1293=)
c.3705G= (p.Ser1235=)
c.3849G= (p.Ser1283=)
c.3762G= (p.Ser1254=)
c.3570G= (p.Ser1190=)
c.3345G= (p.Ser1115=)
c.3027G= (p.Ser1009=)
c.3936G= (p.Ser1312=)
13g.101081620C>GCA484552315NALCNc.3792G>C (p.Ser1264=)
c.3513G>C (p.Ser1171=)
c.3879G>C (p.Ser1293=)
c.3705G>C (p.Ser1235=)
c.3849G>C (p.Ser1283=)
c.3762G>C (p.Ser1254=)
c.3570G>C (p.Ser1190=)
c.3345G>C (p.Ser1115=)
c.3027G>C (p.Ser1009=)
c.3936G>C (p.Ser1312=)
13g.101081620C>TCA7035291NALCNc.3792G>A (p.Ser1264=)
c.3513G>A (p.Ser1171=)
c.3879G>A (p.Ser1293=)
c.3705G>A (p.Ser1235=)
c.3849G>A (p.Ser1283=)
c.3762G>A (p.Ser1254=)
c.3570G>A (p.Ser1190=)
c.3345G>A (p.Ser1115=)
c.3027G>A (p.Ser1009=)
c.3936G>A (p.Ser1312=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.101081621G>ACA255407155NALCNc.3791C>T (p.Ser1264Leu)
c.3512C>T (p.Ser1171Leu)
c.3878C>T (p.Ser1293Leu)
c.3704C>T (p.Ser1235Leu)
c.3848C>T (p.Ser1283Leu)
c.3761C>T (p.Ser1254Leu)
c.3569C>T (p.Ser1190Leu)
c.3344C>T (p.Ser1115Leu)
c.3026C>T (p.Ser1009Leu)
c.3935C>T (p.Ser1312Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.101081621G>CCA388650422NALCNc.3791C>G (p.Ser1264Trp)
c.3512C>G (p.Ser1171Trp)
c.3878C>G (p.Ser1293Trp)
c.3704C>G (p.Ser1235Trp)
c.3848C>G (p.Ser1283Trp)
c.3761C>G (p.Ser1254Trp)
c.3569C>G (p.Ser1190Trp)
c.3344C>G (p.Ser1115Trp)
c.3026C>G (p.Ser1009Trp)
c.3935C>G (p.Ser1312Trp)
13g.101081621G=CA2114388863NALCNc.3791C= (p.Ser1264=)
c.3512C= (p.Ser1171=)
c.3878C= (p.Ser1293=)
c.3704C= (p.Ser1235=)
c.3848C= (p.Ser1283=)
c.3761C= (p.Ser1254=)
c.3569C= (p.Ser1190=)
c.3344C= (p.Ser1115=)
c.3026C= (p.Ser1009=)
c.3935C= (p.Ser1312=)
13g.101081621G>TCA388650423NALCNc.3791C>A (p.Ser1264Ter)
c.3512C>A (p.Ser1171Ter)
c.3878C>A (p.Ser1293Ter)
c.3704C>A (p.Ser1235Ter)
c.3848C>A (p.Ser1283Ter)
c.3761C>A (p.Ser1254Ter)
c.3569C>A (p.Ser1190Ter)
c.3344C>A (p.Ser1115Ter)
c.3026C>A (p.Ser1009Ter)
c.3935C>A (p.Ser1312Ter)
13g.101081622A>CCA388650427NALCNc.3790T>G (p.Ser1264Ala)
c.3511T>G (p.Ser1171Ala)
c.3877T>G (p.Ser1293Ala)
c.3703T>G (p.Ser1235Ala)
c.3847T>G (p.Ser1283Ala)
c.3760T>G (p.Ser1254Ala)
c.3568T>G (p.Ser1190Ala)
c.3343T>G (p.Ser1115Ala)
c.3025T>G (p.Ser1009Ala)
c.3934T>G (p.Ser1312Ala)
13g.101081622A>GCA388650426NALCNc.3790T>C (p.Ser1264Pro)
c.3511T>C (p.Ser1171Pro)
c.3877T>C (p.Ser1293Pro)
c.3703T>C (p.Ser1235Pro)
c.3847T>C (p.Ser1283Pro)
c.3760T>C (p.Ser1254Pro)
c.3568T>C (p.Ser1190Pro)
c.3343T>C (p.Ser1115Pro)
c.3025T>C (p.Ser1009Pro)
c.3934T>C (p.Ser1312Pro)
13g.101081622A>TCA388650424NALCNc.3790T>A (p.Ser1264Thr)
c.3511T>A (p.Ser1171Thr)
c.3877T>A (p.Ser1293Thr)
c.3703T>A (p.Ser1235Thr)
c.3847T>A (p.Ser1283Thr)
c.3760T>A (p.Ser1254Thr)
c.3568T>A (p.Ser1190Thr)
c.3343T>A (p.Ser1115Thr)
c.3025T>A (p.Ser1009Thr)
c.3934T>A (p.Ser1312Thr)
13g.101081623C>ACA388650429NALCNc.3789G>T (p.Met1263Ile)
c.3510G>T (p.Met1170Ile)
c.3876G>T (p.Met1292Ile)
c.3702G>T (p.Met1234Ile)
c.3846G>T (p.Met1282Ile)
c.3759G>T (p.Met1253Ile)
c.3567G>T (p.Met1189Ile)
c.3342G>T (p.Met1114Ile)
c.3024G>T (p.Met1008Ile)
c.3933G>T (p.Met1311Ile)
13g.101081623C>GCA388650430NALCNc.3789G>C (p.Met1263Ile)
c.3510G>C (p.Met1170Ile)
c.3876G>C (p.Met1292Ile)
c.3702G>C (p.Met1234Ile)
c.3846G>C (p.Met1282Ile)
c.3759G>C (p.Met1253Ile)
c.3567G>C (p.Met1189Ile)
c.3342G>C (p.Met1114Ile)
c.3024G>C (p.Met1008Ile)
c.3933G>C (p.Met1311Ile)
13g.101081623C>TCA388650432NALCNc.3789G>A (p.Met1263Ile)
c.3510G>A (p.Met1170Ile)
c.3876G>A (p.Met1292Ile)
c.3702G>A (p.Met1234Ile)
c.3846G>A (p.Met1282Ile)
c.3759G>A (p.Met1253Ile)
c.3567G>A (p.Met1189Ile)
c.3342G>A (p.Met1114Ile)
c.3024G>A (p.Met1008Ile)
c.3933G>A (p.Met1311Ile)
13g.101081624A>CCA388650434NALCNc.3788T>G (p.Met1263Arg)
c.3509T>G (p.Met1170Arg)
c.3875T>G (p.Met1292Arg)
c.3701T>G (p.Met1234Arg)
c.3845T>G (p.Met1282Arg)
c.3758T>G (p.Met1253Arg)
c.3566T>G (p.Met1189Arg)
c.3341T>G (p.Met1114Arg)
c.3023T>G (p.Met1008Arg)
c.3932T>G (p.Met1311Arg)
13g.101081624A>GCA388650435NALCNc.3788T>C (p.Met1263Thr)
c.3509T>C (p.Met1170Thr)
c.3875T>C (p.Met1292Thr)
c.3701T>C (p.Met1234Thr)
c.3845T>C (p.Met1282Thr)
c.3758T>C (p.Met1253Thr)
c.3566T>C (p.Met1189Thr)
c.3341T>C (p.Met1114Thr)
c.3023T>C (p.Met1008Thr)
c.3932T>C (p.Met1311Thr)
13g.101081624A>TCA388650437NALCNc.3788T>A (p.Met1263Lys)
c.3509T>A (p.Met1170Lys)
c.3875T>A (p.Met1292Lys)
c.3701T>A (p.Met1234Lys)
c.3845T>A (p.Met1282Lys)
c.3758T>A (p.Met1253Lys)
c.3566T>A (p.Met1189Lys)
c.3341T>A (p.Met1114Lys)
c.3023T>A (p.Met1008Lys)
c.3932T>A (p.Met1311Lys)
13g.101081625T>ACA388650439NALCNc.3787A>T (p.Met1263Leu)
c.3508A>T (p.Met1170Leu)
c.3874A>T (p.Met1292Leu)
c.3700A>T (p.Met1234Leu)
c.3844A>T (p.Met1282Leu)
c.3757A>T (p.Met1253Leu)
c.3565A>T (p.Met1189Leu)
c.3340A>T (p.Met1114Leu)
c.3022A>T (p.Met1008Leu)
c.3931A>T (p.Met1311Leu)
13g.101081625T>CCA388650441NALCNc.3787A>G (p.Met1263Val)
c.3508A>G (p.Met1170Val)
c.3874A>G (p.Met1292Val)
c.3700A>G (p.Met1234Val)
c.3844A>G (p.Met1282Val)
c.3757A>G (p.Met1253Val)
c.3565A>G (p.Met1189Val)
c.3340A>G (p.Met1114Val)
c.3022A>G (p.Met1008Val)
c.3931A>G (p.Met1311Val)
13g.101081625T>GCA388650440NALCNc.3787A>C (p.Met1263Leu)
c.3508A>C (p.Met1170Leu)
c.3874A>C (p.Met1292Leu)
c.3700A>C (p.Met1234Leu)
c.3844A>C (p.Met1282Leu)
c.3757A>C (p.Met1253Leu)
c.3565A>C (p.Met1189Leu)
c.3340A>C (p.Met1114Leu)
c.3022A>C (p.Met1008Leu)
c.3931A>C (p.Met1311Leu)
13g.101081626T>ACA484552352NALCNc.3786A>T (p.Ala1262=)
c.3507A>T (p.Ala1169=)
c.3873A>T (p.Ala1291=)
c.3699A>T (p.Ala1233=)
c.3843A>T (p.Ala1281=)
c.3756A>T (p.Ala1252=)
c.3564A>T (p.Ala1188=)
c.3339A>T (p.Ala1113=)
c.3021A>T (p.Ala1007=)
c.3930A>T (p.Ala1310=)
13g.101081626T>CCA484552355NALCNc.3786A>G (p.Ala1262=)
c.3507A>G (p.Ala1169=)
c.3873A>G (p.Ala1291=)
c.3699A>G (p.Ala1233=)
c.3843A>G (p.Ala1281=)
c.3756A>G (p.Ala1252=)
c.3564A>G (p.Ala1188=)
c.3339A>G (p.Ala1113=)
c.3021A>G (p.Ala1007=)
c.3930A>G (p.Ala1310=)
13g.101081626T>GCA484552357NALCNc.3786A>C (p.Ala1262=)
c.3507A>C (p.Ala1169=)
c.3873A>C (p.Ala1291=)
c.3699A>C (p.Ala1233=)
c.3843A>C (p.Ala1281=)
c.3756A>C (p.Ala1252=)
c.3564A>C (p.Ala1188=)
c.3339A>C (p.Ala1113=)
c.3021A>C (p.Ala1007=)
c.3930A>C (p.Ala1310=)
13g.101081627G>ACA388650443NALCNc.3785C>T (p.Ala1262Val)
c.3506C>T (p.Ala1169Val)
c.3872C>T (p.Ala1291Val)
c.3698C>T (p.Ala1233Val)
c.3842C>T (p.Ala1281Val)
c.3755C>T (p.Ala1252Val)
c.3563C>T (p.Ala1188Val)
c.3338C>T (p.Ala1113Val)
c.3020C>T (p.Ala1007Val)
c.3929C>T (p.Ala1310Val)
13g.101081627G>CCA388650446NALCNc.3785C>G (p.Ala1262Gly)
c.3506C>G (p.Ala1169Gly)
c.3872C>G (p.Ala1291Gly)
c.3698C>G (p.Ala1233Gly)
c.3842C>G (p.Ala1281Gly)
c.3755C>G (p.Ala1252Gly)
c.3563C>G (p.Ala1188Gly)
c.3338C>G (p.Ala1113Gly)
c.3020C>G (p.Ala1007Gly)
c.3929C>G (p.Ala1310Gly)
13g.101081627G>TCA388650445NALCNc.3785C>A (p.Ala1262Glu)
c.3506C>A (p.Ala1169Glu)
c.3872C>A (p.Ala1291Glu)
c.3698C>A (p.Ala1233Glu)
c.3842C>A (p.Ala1281Glu)
c.3755C>A (p.Ala1252Glu)
c.3563C>A (p.Ala1188Glu)
c.3338C>A (p.Ala1113Glu)
c.3020C>A (p.Ala1007Glu)
c.3929C>A (p.Ala1310Glu)
13g.101081628C>ACA388650448NALCNc.3784G>T (p.Ala1262Ser)
c.3505G>T (p.Ala1169Ser)
c.3871G>T (p.Ala1291Ser)
c.3697G>T (p.Ala1233Ser)
c.3841G>T (p.Ala1281Ser)
c.3754G>T (p.Ala1252Ser)
c.3562G>T (p.Ala1188Ser)
c.3337G>T (p.Ala1113Ser)
c.3019G>T (p.Ala1007Ser)
c.3928G>T (p.Ala1310Ser)
13g.101081628C=CA2114388864NALCNc.3784G= (p.Ala1262=)
c.3505G= (p.Ala1169=)
c.3871G= (p.Ala1291=)
c.3697G= (p.Ala1233=)
c.3841G= (p.Ala1281=)
c.3754G= (p.Ala1252=)
c.3562G= (p.Ala1188=)
c.3337G= (p.Ala1113=)
c.3019G= (p.Ala1007=)
c.3928G= (p.Ala1310=)
13g.101081628C>GCA388650449NALCNc.3784G>C (p.Ala1262Pro)
c.3505G>C (p.Ala1169Pro)
c.3871G>C (p.Ala1291Pro)
c.3697G>C (p.Ala1233Pro)
c.3841G>C (p.Ala1281Pro)
c.3754G>C (p.Ala1252Pro)
c.3562G>C (p.Ala1188Pro)
c.3337G>C (p.Ala1113Pro)
c.3019G>C (p.Ala1007Pro)
c.3928G>C (p.Ala1310Pro)
dbSNP
13g.101081628C>TCA388650451NALCNc.3784G>A (p.Ala1262Thr)
c.3505G>A (p.Ala1169Thr)
c.3871G>A (p.Ala1291Thr)
c.3697G>A (p.Ala1233Thr)
c.3841G>A (p.Ala1281Thr)
c.3754G>A (p.Ala1252Thr)
c.3562G>A (p.Ala1188Thr)
c.3337G>A (p.Ala1113Thr)
c.3019G>A (p.Ala1007Thr)
c.3928G>A (p.Ala1310Thr)
ClinVar gnomAD v4
13g.101081629T>ACA484552371NALCNc.3783A>T (p.Ile1261=)
c.3504A>T (p.Ile1168=)
c.3870A>T (p.Ile1290=)
c.3696A>T (p.Ile1232=)
c.3840A>T (p.Ile1280=)
c.3753A>T (p.Ile1251=)
c.3561A>T (p.Ile1187=)
c.3336A>T (p.Ile1112=)
c.3018A>T (p.Ile1006=)
c.3927A>T (p.Ile1309=)
13g.101081629T>CCA388650452NALCNc.3783A>G (p.Ile1261Met)
c.3504A>G (p.Ile1168Met)
c.3870A>G (p.Ile1290Met)
c.3696A>G (p.Ile1232Met)
c.3840A>G (p.Ile1280Met)
c.3753A>G (p.Ile1251Met)
c.3561A>G (p.Ile1187Met)
c.3336A>G (p.Ile1112Met)
c.3018A>G (p.Ile1006Met)
c.3927A>G (p.Ile1309Met)
13g.101081629T>GCA484552372NALCNc.3783A>C (p.Ile1261=)
c.3504A>C (p.Ile1168=)
c.3870A>C (p.Ile1290=)
c.3696A>C (p.Ile1232=)
c.3840A>C (p.Ile1280=)
c.3753A>C (p.Ile1251=)
c.3561A>C (p.Ile1187=)
c.3336A>C (p.Ile1112=)
c.3018A>C (p.Ile1006=)
c.3927A>C (p.Ile1309=)
13g.101081630A=CA2114388865NALCNc.3782T= (p.Ile1261=)
c.3503T= (p.Ile1168=)
c.3869T= (p.Ile1290=)
c.3695T= (p.Ile1232=)
c.3839T= (p.Ile1280=)
c.3752T= (p.Ile1251=)
c.3560T= (p.Ile1187=)
c.3335T= (p.Ile1112=)
c.3017T= (p.Ile1006=)
c.3926T= (p.Ile1309=)
13g.101081630A>CCA388650454NALCNc.3782T>G (p.Ile1261Arg)
c.3503T>G (p.Ile1168Arg)
c.3869T>G (p.Ile1290Arg)
c.3695T>G (p.Ile1232Arg)
c.3839T>G (p.Ile1280Arg)
c.3752T>G (p.Ile1251Arg)
c.3560T>G (p.Ile1187Arg)
c.3335T>G (p.Ile1112Arg)
c.3017T>G (p.Ile1006Arg)
c.3926T>G (p.Ile1309Arg)
13g.101081630A>GCA7035292NALCNc.3782T>C (p.Ile1261Thr)
c.3503T>C (p.Ile1168Thr)
c.3869T>C (p.Ile1290Thr)
c.3695T>C (p.Ile1232Thr)
c.3839T>C (p.Ile1280Thr)
c.3752T>C (p.Ile1251Thr)
c.3560T>C (p.Ile1187Thr)
c.3335T>C (p.Ile1112Thr)
c.3017T>C (p.Ile1006Thr)
c.3926T>C (p.Ile1309Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.101081630A>TCA388650456NALCNc.3782T>A (p.Ile1261Lys)
c.3503T>A (p.Ile1168Lys)
c.3869T>A (p.Ile1290Lys)
c.3695T>A (p.Ile1232Lys)
c.3839T>A (p.Ile1280Lys)
c.3752T>A (p.Ile1251Lys)
c.3560T>A (p.Ile1187Lys)
c.3335T>A (p.Ile1112Lys)
c.3017T>A (p.Ile1006Lys)
c.3926T>A (p.Ile1309Lys)
13g.101081631T>ACA388650458NALCNc.3781A>T (p.Ile1261Leu)
c.3502A>T (p.Ile1168Leu)
c.3868A>T (p.Ile1290Leu)
c.3694A>T (p.Ile1232Leu)
c.3838A>T (p.Ile1280Leu)
c.3751A>T (p.Ile1251Leu)
c.3559A>T (p.Ile1187Leu)
c.3334A>T (p.Ile1112Leu)
c.3016A>T (p.Ile1006Leu)
c.3925A>T (p.Ile1309Leu)
13g.101081631T>CCA388650460NALCNc.3781A>G (p.Ile1261Val)
c.3502A>G (p.Ile1168Val)
c.3868A>G (p.Ile1290Val)
c.3694A>G (p.Ile1232Val)
c.3838A>G (p.Ile1280Val)
c.3751A>G (p.Ile1251Val)
c.3559A>G (p.Ile1187Val)
c.3334A>G (p.Ile1112Val)
c.3016A>G (p.Ile1006Val)
c.3925A>G (p.Ile1309Val)
dbSNP gnomAD v2 gnomAD v4
13g.101081631T>GCA388650461NALCNc.3781A>C (p.Ile1261Leu)
c.3502A>C (p.Ile1168Leu)
c.3868A>C (p.Ile1290Leu)
c.3694A>C (p.Ile1232Leu)
c.3838A>C (p.Ile1280Leu)
c.3751A>C (p.Ile1251Leu)
c.3559A>C (p.Ile1187Leu)
c.3334A>C (p.Ile1112Leu)
c.3016A>C (p.Ile1006Leu)
c.3925A>C (p.Ile1309Leu)
13g.101081631T=CA2114388866NALCNc.3781A= (p.Ile1261=)
c.3502A= (p.Ile1168=)
c.3868A= (p.Ile1290=)
c.3694A= (p.Ile1232=)
c.3838A= (p.Ile1280=)
c.3751A= (p.Ile1251=)
c.3559A= (p.Ile1187=)
c.3334A= (p.Ile1112=)
c.3016A= (p.Ile1006=)
c.3925A= (p.Ile1309=)
13g.101081632G>ACA484552387NALCNc.3780C>T (p.Ile1260=)
c.3501C>T (p.Ile1167=)
c.3867C>T (p.Ile1289=)
c.3693C>T (p.Ile1231=)
c.3837C>T (p.Ile1279=)
c.3750C>T (p.Ile1250=)
c.3558C>T (p.Ile1186=)
c.3333C>T (p.Ile1111=)
c.3015C>T (p.Ile1005=)
c.3924C>T (p.Ile1308=)
13g.101081632G>CCA388650463NALCNc.3780C>G (p.Ile1260Met)
c.3501C>G (p.Ile1167Met)
c.3867C>G (p.Ile1289Met)
c.3693C>G (p.Ile1231Met)
c.3837C>G (p.Ile1279Met)
c.3750C>G (p.Ile1250Met)
c.3558C>G (p.Ile1186Met)
c.3333C>G (p.Ile1111Met)
c.3015C>G (p.Ile1005Met)
c.3924C>G (p.Ile1308Met)
13g.101081632G>TCA484552392NALCNc.3780C>A (p.Ile1260=)
c.3501C>A (p.Ile1167=)
c.3867C>A (p.Ile1289=)
c.3693C>A (p.Ile1231=)
c.3837C>A (p.Ile1279=)
c.3750C>A (p.Ile1250=)
c.3558C>A (p.Ile1186=)
c.3333C>A (p.Ile1111=)
c.3015C>A (p.Ile1005=)
c.3924C>A (p.Ile1308=)
13g.101081633A=CA2114388867NALCNc.3779T= (p.Ile1260=)
c.3500T= (p.Ile1167=)
c.3866T= (p.Ile1289=)
c.3692T= (p.Ile1231=)
c.3836T= (p.Ile1279=)
c.3749T= (p.Ile1250=)
c.3557T= (p.Ile1186=)
c.3332T= (p.Ile1111=)
c.3014T= (p.Ile1005=)
c.3923T= (p.Ile1308=)
13g.101081633A>CCA388650467NALCNc.3779T>G (p.Ile1260Ser)
c.3500T>G (p.Ile1167Ser)
c.3866T>G (p.Ile1289Ser)
c.3692T>G (p.Ile1231Ser)
c.3836T>G (p.Ile1279Ser)
c.3749T>G (p.Ile1250Ser)
c.3557T>G (p.Ile1186Ser)
c.3332T>G (p.Ile1111Ser)
c.3014T>G (p.Ile1005Ser)
c.3923T>G (p.Ile1308Ser)
13g.101081633A>GCA388650465NALCNc.3779T>C (p.Ile1260Thr)
c.3500T>C (p.Ile1167Thr)
c.3866T>C (p.Ile1289Thr)
c.3692T>C (p.Ile1231Thr)
c.3836T>C (p.Ile1279Thr)
c.3749T>C (p.Ile1250Thr)
c.3557T>C (p.Ile1186Thr)
c.3332T>C (p.Ile1111Thr)
c.3014T>C (p.Ile1005Thr)
c.3923T>C (p.Ile1308Thr)
dbSNP gnomAD v3 gnomAD v4
13g.101081633A>TCA7035293NALCNc.3779T>A (p.Ile1260Asn)
c.3500T>A (p.Ile1167Asn)
c.3866T>A (p.Ile1289Asn)
c.3692T>A (p.Ile1231Asn)
c.3836T>A (p.Ile1279Asn)
c.3749T>A (p.Ile1250Asn)
c.3557T>A (p.Ile1186Asn)
c.3332T>A (p.Ile1111Asn)
c.3014T>A (p.Ile1005Asn)
c.3923T>A (p.Ile1308Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.101081634T>ACA388650469NALCNc.3778A>T (p.Ile1260Phe)
c.3499A>T (p.Ile1167Phe)
c.3865A>T (p.Ile1289Phe)
c.3691A>T (p.Ile1231Phe)
c.3835A>T (p.Ile1279Phe)
c.3748A>T (p.Ile1250Phe)
c.3556A>T (p.Ile1186Phe)
c.3331A>T (p.Ile1111Phe)
c.3013A>T (p.Ile1005Phe)
c.3922A>T (p.Ile1308Phe)
gnomAD v4
13g.101081634T>CCA388650470NALCNc.3778A>G (p.Ile1260Val)
c.3499A>G (p.Ile1167Val)
c.3865A>G (p.Ile1289Val)
c.3691A>G (p.Ile1231Val)
c.3835A>G (p.Ile1279Val)
c.3748A>G (p.Ile1250Val)
c.3556A>G (p.Ile1186Val)
c.3331A>G (p.Ile1111Val)
c.3013A>G (p.Ile1005Val)
c.3922A>G (p.Ile1308Val)
gnomAD v4
13g.101081634T>GCA388650472NALCNc.3778A>C (p.Ile1260Leu)
c.3499A>C (p.Ile1167Leu)
c.3865A>C (p.Ile1289Leu)
c.3691A>C (p.Ile1231Leu)
c.3835A>C (p.Ile1279Leu)
c.3748A>C (p.Ile1250Leu)
c.3556A>C (p.Ile1186Leu)
c.3331A>C (p.Ile1111Leu)
c.3013A>C (p.Ile1005Leu)
c.3922A>C (p.Ile1308Leu)
13g.101081635C>ACA388650473NALCNc.3777G>T (p.Lys1259Asn)
c.3498G>T (p.Lys1166Asn)
c.3864G>T (p.Lys1288Asn)
c.3690G>T (p.Lys1230Asn)
c.3834G>T (p.Lys1278Asn)
c.3747G>T (p.Lys1249Asn)
c.3555G>T (p.Lys1185Asn)
c.3330G>T (p.Lys1110Asn)
c.3012G>T (p.Lys1004Asn)
c.3921G>T (p.Lys1307Asn)
13g.101081635C>GCA388650475NALCNc.3777G>C (p.Lys1259Asn)
c.3498G>C (p.Lys1166Asn)
c.3864G>C (p.Lys1288Asn)
c.3690G>C (p.Lys1230Asn)
c.3834G>C (p.Lys1278Asn)
c.3747G>C (p.Lys1249Asn)
c.3555G>C (p.Lys1185Asn)
c.3330G>C (p.Lys1110Asn)
c.3012G>C (p.Lys1004Asn)
c.3921G>C (p.Lys1307Asn)
13g.101081635C>TCA484552406NALCNc.3777G>A (p.Lys1259=)
c.3498G>A (p.Lys1166=)
c.3864G>A (p.Lys1288=)
c.3690G>A (p.Lys1230=)
c.3834G>A (p.Lys1278=)
c.3747G>A (p.Lys1249=)
c.3555G>A (p.Lys1185=)
c.3330G>A (p.Lys1110=)
c.3012G>A (p.Lys1004=)
c.3921G>A (p.Lys1307=)
13g.101081636T>ACA388650477NALCNc.3776A>T (p.Lys1259Met)
c.3497A>T (p.Lys1166Met)
c.3863A>T (p.Lys1288Met)
c.3689A>T (p.Lys1230Met)
c.3833A>T (p.Lys1278Met)
c.3746A>T (p.Lys1249Met)
c.3554A>T (p.Lys1185Met)
c.3329A>T (p.Lys1110Met)
c.3011A>T (p.Lys1004Met)
c.3920A>T (p.Lys1307Met)
13g.101081636T>CCA388650478NALCNc.3776A>G (p.Lys1259Arg)
c.3497A>G (p.Lys1166Arg)
c.3863A>G (p.Lys1288Arg)
c.3689A>G (p.Lys1230Arg)
c.3833A>G (p.Lys1278Arg)
c.3746A>G (p.Lys1249Arg)
c.3554A>G (p.Lys1185Arg)
c.3329A>G (p.Lys1110Arg)
c.3011A>G (p.Lys1004Arg)
c.3920A>G (p.Lys1307Arg)
13g.101081636T>GCA388650480NALCNc.3776A>C (p.Lys1259Thr)
c.3497A>C (p.Lys1166Thr)
c.3863A>C (p.Lys1288Thr)
c.3689A>C (p.Lys1230Thr)
c.3833A>C (p.Lys1278Thr)
c.3746A>C (p.Lys1249Thr)
c.3554A>C (p.Lys1185Thr)
c.3329A>C (p.Lys1110Thr)
c.3011A>C (p.Lys1004Thr)
c.3920A>C (p.Lys1307Thr)
13g.101081637T>ACA388650482NALCNc.3775A>T (p.Lys1259Ter)
c.3496A>T (p.Lys1166Ter)
c.3862A>T (p.Lys1288Ter)
c.3688A>T (p.Lys1230Ter)
c.3832A>T (p.Lys1278Ter)
c.3745A>T (p.Lys1249Ter)
c.3553A>T (p.Lys1185Ter)
c.3328A>T (p.Lys1110Ter)
c.3010A>T (p.Lys1004Ter)
c.3919A>T (p.Lys1307Ter)
COSMIC
13g.101081637T>CCA388650483NALCNc.3775A>G (p.Lys1259Glu)
c.3496A>G (p.Lys1166Glu)
c.3862A>G (p.Lys1288Glu)
c.3688A>G (p.Lys1230Glu)
c.3832A>G (p.Lys1278Glu)
c.3745A>G (p.Lys1249Glu)
c.3553A>G (p.Lys1185Glu)
c.3328A>G (p.Lys1110Glu)
c.3010A>G (p.Lys1004Glu)
c.3919A>G (p.Lys1307Glu)
13g.101081637T>GCA388650484NALCNc.3775A>C (p.Lys1259Gln)
c.3496A>C (p.Lys1166Gln)
c.3862A>C (p.Lys1288Gln)
c.3688A>C (p.Lys1230Gln)
c.3832A>C (p.Lys1278Gln)
c.3745A>C (p.Lys1249Gln)
c.3553A>C (p.Lys1185Gln)
c.3328A>C (p.Lys1110Gln)
c.3010A>C (p.Lys1004Gln)
c.3919A>C (p.Lys1307Gln)
13g.101081638C>ACA388650490NALCNc.3774G>T (p.Met1258Ile)
c.3495G>T (p.Met1165Ile)
c.3861G>T (p.Met1287Ile)
c.3687G>T (p.Met1229Ile)
c.3831G>T (p.Met1277Ile)
c.3744G>T (p.Met1248Ile)
c.3552G>T (p.Met1184Ile)
c.3327G>T (p.Met1109Ile)
c.3009G>T (p.Met1003Ile)
c.3918G>T (p.Met1306Ile)
13g.101081638C>GCA388650488NALCNc.3774G>C (p.Met1258Ile)
c.3495G>C (p.Met1165Ile)
c.3861G>C (p.Met1287Ile)
c.3687G>C (p.Met1229Ile)
c.3831G>C (p.Met1277Ile)
c.3744G>C (p.Met1248Ile)
c.3552G>C (p.Met1184Ile)
c.3327G>C (p.Met1109Ile)
c.3009G>C (p.Met1003Ile)
c.3918G>C (p.Met1306Ile)
13g.101081638C>TCA388650487NALCNc.3774G>A (p.Met1258Ile)
c.3495G>A (p.Met1165Ile)
c.3861G>A (p.Met1287Ile)
c.3687G>A (p.Met1229Ile)
c.3831G>A (p.Met1277Ile)
c.3744G>A (p.Met1248Ile)
c.3552G>A (p.Met1184Ile)
c.3327G>A (p.Met1109Ile)
c.3009G>A (p.Met1003Ile)
c.3918G>A (p.Met1306Ile)
13g.101081639A=CA2114388868NALCNc.3773T= (p.Met1258=)
c.3494T= (p.Met1165=)
c.3860T= (p.Met1287=)
c.3686T= (p.Met1229=)
c.3830T= (p.Met1277=)
c.3743T= (p.Met1248=)
c.3551T= (p.Met1184=)
c.3326T= (p.Met1109=)
c.3008T= (p.Met1003=)
c.3917T= (p.Met1306=)
13g.101081639A>CCA388650491NALCNc.3773T>G (p.Met1258Arg)
c.3494T>G (p.Met1165Arg)
c.3860T>G (p.Met1287Arg)
c.3686T>G (p.Met1229Arg)
c.3830T>G (p.Met1277Arg)
c.3743T>G (p.Met1248Arg)
c.3551T>G (p.Met1184Arg)
c.3326T>G (p.Met1109Arg)
c.3008T>G (p.Met1003Arg)
c.3917T>G (p.Met1306Arg)
dbSNP COSMIC
13g.101081639A>GCA388650492NALCNc.3773T>C (p.Met1258Thr)
c.3494T>C (p.Met1165Thr)
c.3860T>C (p.Met1287Thr)
c.3686T>C (p.Met1229Thr)
c.3830T>C (p.Met1277Thr)
c.3743T>C (p.Met1248Thr)
c.3551T>C (p.Met1184Thr)
c.3326T>C (p.Met1109Thr)
c.3008T>C (p.Met1003Thr)
c.3917T>C (p.Met1306Thr)
gnomAD v4
13g.101081639A>TCA388650493NALCNc.3773T>A (p.Met1258Lys)
c.3494T>A (p.Met1165Lys)
c.3860T>A (p.Met1287Lys)
c.3686T>A (p.Met1229Lys)
c.3830T>A (p.Met1277Lys)
c.3743T>A (p.Met1248Lys)
c.3551T>A (p.Met1184Lys)
c.3326T>A (p.Met1109Lys)
c.3008T>A (p.Met1003Lys)
c.3917T>A (p.Met1306Lys)
13g.101081640T>ACA388650495NALCNc.3772A>T (p.Met1258Leu)
c.3493A>T (p.Met1165Leu)
c.3859A>T (p.Met1287Leu)
c.3685A>T (p.Met1229Leu)
c.3829A>T (p.Met1277Leu)
c.3742A>T (p.Met1248Leu)
c.3550A>T (p.Met1184Leu)
c.3325A>T (p.Met1109Leu)
c.3007A>T (p.Met1003Leu)
c.3916A>T (p.Met1306Leu)
13g.101081640T>CCA388650496NALCNc.3772A>G (p.Met1258Val)
c.3493A>G (p.Met1165Val)
c.3859A>G (p.Met1287Val)
c.3685A>G (p.Met1229Val)
c.3829A>G (p.Met1277Val)
c.3742A>G (p.Met1248Val)
c.3550A>G (p.Met1184Val)
c.3325A>G (p.Met1109Val)
c.3007A>G (p.Met1003Val)
c.3916A>G (p.Met1306Val)
gnomAD v4
13g.101081640T>GCA388650498NALCNc.3772A>C (p.Met1258Leu)
c.3493A>C (p.Met1165Leu)
c.3859A>C (p.Met1287Leu)
c.3685A>C (p.Met1229Leu)
c.3829A>C (p.Met1277Leu)
c.3742A>C (p.Met1248Leu)
c.3550A>C (p.Met1184Leu)
c.3325A>C (p.Met1109Leu)
c.3007A>C (p.Met1003Leu)
c.3916A>C (p.Met1306Leu)
13g.101081641G>ACA7035294NALCNc.3771C>T (p.Thr1257=)
c.3492C>T (p.Thr1164=)
c.3858C>T (p.Thr1286=)
c.3684C>T (p.Thr1228=)
c.3828C>T (p.Thr1276=)
c.3741C>T (p.Thr1247=)
c.3549C>T (p.Thr1183=)
c.3324C>T (p.Thr1108=)
c.3006C>T (p.Thr1002=)
c.3915C>T (p.Thr1305=)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.101081641G>CCA484552439NALCNc.3771C>G (p.Thr1257=)
c.3492C>G (p.Thr1164=)
c.3858C>G (p.Thr1286=)
c.3684C>G (p.Thr1228=)
c.3828C>G (p.Thr1276=)
c.3741C>G (p.Thr1247=)
c.3549C>G (p.Thr1183=)
c.3324C>G (p.Thr1108=)
c.3006C>G (p.Thr1002=)
c.3915C>G (p.Thr1305=)
13g.101081641G=CA2114388869NALCNc.3771C= (p.Thr1257=)
c.3492C= (p.Thr1164=)
c.3858C= (p.Thr1286=)
c.3684C= (p.Thr1228=)
c.3828C= (p.Thr1276=)
c.3741C= (p.Thr1247=)
c.3549C= (p.Thr1183=)
c.3324C= (p.Thr1108=)
c.3006C= (p.Thr1002=)
c.3915C= (p.Thr1305=)
13g.101081641G>TCA484552442NALCNc.3771C>A (p.Thr1257=)
c.3492C>A (p.Thr1164=)
c.3858C>A (p.Thr1286=)
c.3684C>A (p.Thr1228=)
c.3828C>A (p.Thr1276=)
c.3741C>A (p.Thr1247=)
c.3549C>A (p.Thr1183=)
c.3324C>A (p.Thr1108=)
c.3006C>A (p.Thr1002=)
c.3915C>A (p.Thr1305=)
dbSNP gnomAD v2 gnomAD v4
13g.101081642G>ACA388650500NALCNc.3770C>T (p.Thr1257Ile)
c.3491C>T (p.Thr1164Ile)
c.3857C>T (p.Thr1286Ile)
c.3683C>T (p.Thr1228Ile)
c.3827C>T (p.Thr1276Ile)
c.3740C>T (p.Thr1247Ile)
c.3548C>T (p.Thr1183Ile)
c.3323C>T (p.Thr1108Ile)
c.3005C>T (p.Thr1002Ile)
c.3914C>T (p.Thr1305Ile)
gnomAD v4
13g.101081642G>CCA388650501NALCNc.3770C>G (p.Thr1257Ser)
c.3491C>G (p.Thr1164Ser)
c.3857C>G (p.Thr1286Ser)
c.3683C>G (p.Thr1228Ser)
c.3827C>G (p.Thr1276Ser)
c.3740C>G (p.Thr1247Ser)
c.3548C>G (p.Thr1183Ser)
c.3323C>G (p.Thr1108Ser)
c.3005C>G (p.Thr1002Ser)
c.3914C>G (p.Thr1305Ser)
13g.101081642G>TCA388650503NALCNc.3770C>A (p.Thr1257Asn)
c.3491C>A (p.Thr1164Asn)
c.3857C>A (p.Thr1286Asn)
c.3683C>A (p.Thr1228Asn)
c.3827C>A (p.Thr1276Asn)
c.3740C>A (p.Thr1247Asn)
c.3548C>A (p.Thr1183Asn)
c.3323C>A (p.Thr1108Asn)
c.3005C>A (p.Thr1002Asn)
c.3914C>A (p.Thr1305Asn)
13g.101081643T>ACA388650504NALCNc.3769A>T (p.Thr1257Ser)
c.3490A>T (p.Thr1164Ser)
c.3856A>T (p.Thr1286Ser)
c.3682A>T (p.Thr1228Ser)
c.3826A>T (p.Thr1276Ser)
c.3739A>T (p.Thr1247Ser)
c.3547A>T (p.Thr1183Ser)
c.3322A>T (p.Thr1108Ser)
c.3004A>T (p.Thr1002Ser)
c.3913A>T (p.Thr1305Ser)
13g.101081643T>CCA388650506NALCNc.3769A>G (p.Thr1257Ala)
c.3490A>G (p.Thr1164Ala)
c.3856A>G (p.Thr1286Ala)
c.3682A>G (p.Thr1228Ala)
c.3826A>G (p.Thr1276Ala)
c.3739A>G (p.Thr1247Ala)
c.3547A>G (p.Thr1183Ala)
c.3322A>G (p.Thr1108Ala)
c.3004A>G (p.Thr1002Ala)
c.3913A>G (p.Thr1305Ala)
gnomAD v4
13g.101081643T>GCA388650508NALCNc.3769A>C (p.Thr1257Pro)
c.3490A>C (p.Thr1164Pro)
c.3856A>C (p.Thr1286Pro)
c.3682A>C (p.Thr1228Pro)
c.3826A>C (p.Thr1276Pro)
c.3739A>C (p.Thr1247Pro)
c.3547A>C (p.Thr1183Pro)
c.3322A>C (p.Thr1108Pro)
c.3004A>C (p.Thr1002Pro)
c.3913A>C (p.Thr1305Pro)
13g.101081644A>CCA484552462NALCNc.3768T>G (p.Val1256=)
c.3489T>G (p.Val1163=)
c.3855T>G (p.Val1285=)
c.3681T>G (p.Val1227=)
c.3825T>G (p.Val1275=)
c.3738T>G (p.Val1246=)
c.3546T>G (p.Val1182=)
c.3321T>G (p.Val1107=)
c.3003T>G (p.Val1001=)
c.3912T>G (p.Val1304=)
13g.101081644A>GCA484552456NALCNc.3768T>C (p.Val1256=)
c.3489T>C (p.Val1163=)
c.3855T>C (p.Val1285=)
c.3681T>C (p.Val1227=)
c.3825T>C (p.Val1275=)
c.3738T>C (p.Val1246=)
c.3546T>C (p.Val1182=)
c.3321T>C (p.Val1107=)
c.3003T>C (p.Val1001=)
c.3912T>C (p.Val1304=)
13g.101081644A>TCA484552459NALCNc.3768T>A (p.Val1256=)
c.3489T>A (p.Val1163=)
c.3855T>A (p.Val1285=)
c.3681T>A (p.Val1227=)
c.3825T>A (p.Val1275=)
c.3738T>A (p.Val1246=)
c.3546T>A (p.Val1182=)
c.3321T>A (p.Val1107=)
c.3003T>A (p.Val1001=)
c.3912T>A (p.Val1304=)
13g.101081645A>CCA388650512NALCNc.3767T>G (p.Val1256Gly)
c.3488T>G (p.Val1163Gly)
c.3854T>G (p.Val1285Gly)
c.3680T>G (p.Val1227Gly)
c.3824T>G (p.Val1275Gly)
c.3737T>G (p.Val1246Gly)
c.3545T>G (p.Val1182Gly)
c.3320T>G (p.Val1107Gly)
c.3002T>G (p.Val1001Gly)
c.3911T>G (p.Val1304Gly)
13g.101081645A>GCA388650509NALCNc.3767T>C (p.Val1256Ala)
c.3488T>C (p.Val1163Ala)
c.3854T>C (p.Val1285Ala)
c.3680T>C (p.Val1227Ala)
c.3824T>C (p.Val1275Ala)
c.3737T>C (p.Val1246Ala)
c.3545T>C (p.Val1182Ala)
c.3320T>C (p.Val1107Ala)
c.3002T>C (p.Val1001Ala)
c.3911T>C (p.Val1304Ala)
13g.101081645A>TCA388650510NALCNc.3767T>A (p.Val1256Asp)
c.3488T>A (p.Val1163Asp)
c.3854T>A (p.Val1285Asp)
c.3680T>A (p.Val1227Asp)
c.3824T>A (p.Val1275Asp)
c.3737T>A (p.Val1246Asp)
c.3545T>A (p.Val1182Asp)
c.3320T>A (p.Val1107Asp)
c.3002T>A (p.Val1001Asp)
c.3911T>A (p.Val1304Asp)
13g.101081646C>ACA388650514NALCNc.3766G>T (p.Val1256Phe)
c.3487G>T (p.Val1163Phe)
c.3853G>T (p.Val1285Phe)
c.3679G>T (p.Val1227Phe)
c.3823G>T (p.Val1275Phe)
c.3736G>T (p.Val1246Phe)
c.3544G>T (p.Val1182Phe)
c.3319G>T (p.Val1107Phe)
c.3001G>T (p.Val1001Phe)
c.3910G>T (p.Val1304Phe)
13g.101081646C>GCA388650515NALCNc.3766G>C (p.Val1256Leu)
c.3487G>C (p.Val1163Leu)
c.3853G>C (p.Val1285Leu)
c.3679G>C (p.Val1227Leu)
c.3823G>C (p.Val1275Leu)
c.3736G>C (p.Val1246Leu)
c.3544G>C (p.Val1182Leu)
c.3319G>C (p.Val1107Leu)
c.3001G>C (p.Val1001Leu)
c.3910G>C (p.Val1304Leu)
13g.101081646C>TCA388650517NALCNc.3766G>A (p.Val1256Ile)
c.3487G>A (p.Val1163Ile)
c.3853G>A (p.Val1285Ile)
c.3679G>A (p.Val1227Ile)
c.3823G>A (p.Val1275Ile)
c.3736G>A (p.Val1246Ile)
c.3544G>A (p.Val1182Ile)
c.3319G>A (p.Val1107Ile)
c.3001G>A (p.Val1001Ile)
c.3910G>A (p.Val1304Ile)
13g.101081647C>ACA388650519NALCNc.3766-1G>T (n.3766-1G>T)
c.3487-1G>T (n.3487-1G>T)
c.3853-1G>T (n.3853-1G>T)
c.3679-1G>T (n.3679-1G>T)
c.3823-1G>T (n.3823-1G>T)
c.3736-1G>T (n.3736-1G>T)
c.3544-1G>T (n.3544-1G>T)
c.3319-1G>T (n.3319-1G>T)
c.3001-1G>T (n.3001-1G>T)
c.3910-1G>T (n.3910-1G>T)
13g.101081647C>GCA388650521NALCNc.3766-1G>C (n.3766-1G>C)
c.3487-1G>C (n.3487-1G>C)
c.3853-1G>C (n.3853-1G>C)
c.3679-1G>C (n.3679-1G>C)
c.3823-1G>C (n.3823-1G>C)
c.3736-1G>C (n.3736-1G>C)
c.3544-1G>C (n.3544-1G>C)
c.3319-1G>C (n.3319-1G>C)
c.3001-1G>C (n.3001-1G>C)
c.3910-1G>C (n.3910-1G>C)
13g.101081647C>TCA388650522NALCNc.3766-1G>A (n.3766-1G>A)
c.3487-1G>A (n.3487-1G>A)
c.3853-1G>A (n.3853-1G>A)
c.3679-1G>A (n.3679-1G>A)
c.3823-1G>A (n.3823-1G>A)
c.3736-1G>A (n.3736-1G>A)
c.3544-1G>A (n.3544-1G>A)
c.3319-1G>A (n.3319-1G>A)
c.3001-1G>A (n.3001-1G>A)
c.3910-1G>A (n.3910-1G>A)
13g.101081648T>ACA388650524NALCNc.3766-2A>T (n.3766-2A>T)
c.3487-2A>T (n.3487-2A>T)
c.3853-2A>T (n.3853-2A>T)
c.3679-2A>T (n.3679-2A>T)
c.3823-2A>T (n.3823-2A>T)
c.3736-2A>T (n.3736-2A>T)
c.3544-2A>T (n.3544-2A>T)
c.3319-2A>T (n.3319-2A>T)
c.3001-2A>T (n.3001-2A>T)
c.3910-2A>T (n.3910-2A>T)
13g.101081648T>CCA388650526NALCNc.3766-2A>G (n.3766-2A>G)
c.3487-2A>G (n.3487-2A>G)
c.3853-2A>G (n.3853-2A>G)
c.3679-2A>G (n.3679-2A>G)
c.3823-2A>G (n.3823-2A>G)
c.3736-2A>G (n.3736-2A>G)
c.3544-2A>G (n.3544-2A>G)
c.3319-2A>G (n.3319-2A>G)
c.3001-2A>G (n.3001-2A>G)
c.3910-2A>G (n.3910-2A>G)
13g.101081648T>GCA388650528NALCNc.3766-2A>C (n.3766-2A>C)
c.3487-2A>C (n.3487-2A>C)
c.3853-2A>C (n.3853-2A>C)
c.3679-2A>C (n.3679-2A>C)
c.3823-2A>C (n.3823-2A>C)
c.3736-2A>C (n.3736-2A>C)
c.3544-2A>C (n.3544-2A>C)
c.3319-2A>C (n.3319-2A>C)
c.3001-2A>C (n.3001-2A>C)
c.3910-2A>C (n.3910-2A>C)
13g.101081651A=CA2114388870NALCNc.3766-5T= (n.3766-5T=)
c.3487-5T= (n.3487-5T=)
c.3853-5T= (n.3853-5T=)
c.3679-5T= (n.3679-5T=)
c.3823-5T= (n.3823-5T=)
c.3736-5T= (n.3736-5T=)
c.3544-5T= (n.3544-5T=)
c.3319-5T= (n.3319-5T=)
c.3001-5T= (n.3001-5T=)
c.3910-5T= (n.3910-5T=)
13g.101081651A>CCA7035295NALCNc.3766-5T>G (n.3766-5T>G)
c.3487-5T>G (n.3487-5T>G)
c.3853-5T>G (n.3853-5T>G)
c.3679-5T>G (n.3679-5T>G)
c.3823-5T>G (n.3823-5T>G)
c.3736-5T>G (n.3736-5T>G)
c.3544-5T>G (n.3544-5T>G)
c.3319-5T>G (n.3319-5T>G)
c.3001-5T>G (n.3001-5T>G)
c.3910-5T>G (n.3910-5T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.101081651A>GCA2114388871NALCNc.3766-5T>C (n.3766-5T>C)
c.3487-5T>C (n.3487-5T>C)
c.3853-5T>C (n.3853-5T>C)
c.3679-5T>C (n.3679-5T>C)
c.3823-5T>C (n.3823-5T>C)
c.3736-5T>C (n.3736-5T>C)
c.3544-5T>C (n.3544-5T>C)
c.3319-5T>C (n.3319-5T>C)
c.3001-5T>C (n.3001-5T>C)
c.3910-5T>C (n.3910-5T>C)
dbSNP gnomAD v4
13g.101081652G>ACA2114388873NALCNc.3766-6C>T (n.3766-6C>T)
c.3487-6C>T (n.3487-6C>T)
c.3853-6C>T (n.3853-6C>T)
c.3679-6C>T (n.3679-6C>T)
c.3823-6C>T (n.3823-6C>T)
c.3736-6C>T (n.3736-6C>T)
c.3544-6C>T (n.3544-6C>T)
c.3319-6C>T (n.3319-6C>T)
c.3001-6C>T (n.3001-6C>T)
c.3910-6C>T (n.3910-6C>T)
dbSNP
13g.101081652G=CA2114388872NALCNc.3766-6C= (n.3766-6C=)
c.3487-6C= (n.3487-6C=)
c.3853-6C= (n.3853-6C=)
c.3679-6C= (n.3679-6C=)
c.3823-6C= (n.3823-6C=)
c.3736-6C= (n.3736-6C=)
c.3544-6C= (n.3544-6C=)
c.3319-6C= (n.3319-6C=)
c.3001-6C= (n.3001-6C=)
c.3910-6C= (n.3910-6C=)
13g.101081654A=CA2114388874NALCNc.3766-8T= (n.3766-8T=)
c.3487-8T= (n.3487-8T=)
c.3853-8T= (n.3853-8T=)
c.3679-8T= (n.3679-8T=)
c.3823-8T= (n.3823-8T=)
c.3736-8T= (n.3736-8T=)
c.3544-8T= (n.3544-8T=)
c.3319-8T= (n.3319-8T=)
c.3001-8T= (n.3001-8T=)
c.3910-8T= (n.3910-8T=)
13g.101081654A>GCA255407172NALCNc.3766-8T>C (n.3766-8T>C)
c.3487-8T>C (n.3487-8T>C)
c.3853-8T>C (n.3853-8T>C)
c.3679-8T>C (n.3679-8T>C)
c.3823-8T>C (n.3823-8T>C)
c.3736-8T>C (n.3736-8T>C)
c.3544-8T>C (n.3544-8T>C)
c.3319-8T>C (n.3319-8T>C)
c.3001-8T>C (n.3001-8T>C)
c.3910-8T>C (n.3910-8T>C)
dbSNP

Number of alleles fetched