Full data view for gene ASNS

Information The variants shown are described using the NM_001673.4 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-23-12T>C r.(=) p.(=) g.97498503A>G Copied from the Exome Variant Server ASNS_000073 2/13006 2/8600 0/4406 - - - - - - -
?/? c.-23-3T>C r.spl? p.? g.97498494A>G Copied from the Exome Variant Server ASNS_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-14A>G r.(=) p.(=) g.97498482T>C Copied from the Exome Variant Server ASNS_000069 2/13006 2/8600 0/4406 - - - - - - -
?/? c.18G>A r.(=) p.(=) g.97498451C>T Copied from the Exome Variant Server ASNS_000067 112/13006 9/8600 103/4406 - - - - - - -
?/? c.144C>T r.(=) p.(=) g.97498325G>A Copied from the Exome Variant Server ASNS_000079 45/13006 1/8600 44/4406 - - - - - - -
?/? c.148T>C r.(=) p.(=) g.97498321A>G Copied from the Exome Variant Server ASNS_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.153G>A r.(=) p.(=) g.97498316C>T Copied from the Exome Variant Server ASNS_000077 3/13006 3/8600 0/4406 - - - - - - -
?/? c.156A>G r.(=) p.(=) g.97498313T>C Copied from the Exome Variant Server ASNS_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.187C>T r.(?) p.(Arg63*) g.97498282G>A Copied from the Exome Variant Server ASNS_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.200A>G r.(?) p.(Tyr67Cys) g.97498269T>C Copied from the Exome Variant Server ASNS_000074 1/13006 0/8600 1/4406 - - - - - - -
?/? c.249+24C>T r.(=) p.(=) g.97498196G>A Copied from the Exome Variant Server ASNS_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.250-10G>A r.(=) p.(=) g.97493818C>T Copied from the Exome Variant Server ASNS_000070 3/13000 2/8594 1/4406 - - - - - - -
?/? c.340A>G r.(?) p.(Ile114Val) g.97493718T>C Copied from the Exome Variant Server ASNS_000068 1/13000 0/8594 1/4406 - - - - - - -
?/? c.382A>C r.(?) p.(Thr128Pro) g.97493676T>G Copied from the Exome Variant Server ASNS_000066 1/13004 1/8598 0/4406 - - - - - - -
?/? c.383C>T r.(?) p.(Thr128Ile) g.97493675G>A Copied from the Exome Variant Server ASNS_000065 1/13004 1/8598 0/4406 - - - - - - -
?/? c.477A>G r.(=) p.(=) g.97493581T>C Copied from the Exome Variant Server ASNS_000064 1/12994 0/8592 1/4402 - - - - - - -
?/? c.488-23A>G r.(=) p.(=) g.97488733T>C Copied from the Exome Variant Server ASNS_000063 4599/13004 3193/8600 1406/4404 - - - - - - -
?/? c.492T>G r.(=) p.(=) g.97488706A>C Copied from the Exome Variant Server ASNS_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.510C>T r.(=) p.(=) g.97488688G>A Copied from the Exome Variant Server ASNS_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.511G>A r.(?) p.(Ala171Thr) g.97488687C>T Copied from the Exome Variant Server ASNS_000060 2/13006 0/8600 2/4406 - - - - - - -
?/? c.512C>T r.(?) p.(Ala171Val) g.97488686G>A Copied from the Exome Variant Server ASNS_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.540del r.(?) p.(Leu181Phefs*10) g.97488658del Copied from the Exome Variant Server ASNS_000058 1/12514 0/8250 1/4264 - - - - - - -
?/? c.543T>C r.(=) p.(=) g.97488655A>G Copied from the Exome Variant Server ASNS_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.629T>A r.(?) p.(Val210Glu) g.97488569A>T Copied from the Exome Variant Server ASNS_000056 10415/13006 6280/8600 4135/4406 - - - - - - -
?/? c.673+27C>T r.(=) p.(=) g.97488498G>A Copied from the Exome Variant Server ASNS_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.673+42G>A r.(=) p.(=) g.97488483C>T Copied from the Exome Variant Server ASNS_000054 2/13006 2/8600 0/4406 - - - - - - -
?/? c.673+51T>A r.(=) p.(=) g.97488474A>T Copied from the Exome Variant Server ASNS_000053 29/13006 0/8600 29/4406 - - - - - - -
?/? c.674-25G>A r.(=) p.(=) g.97488292C>T Copied from the Exome Variant Server ASNS_000052 1/13004 0/8600 1/4404 - - - - - - -
?/? c.775+18_775+19insAA r.(=) p.(=) g.97488147_97488148insTT Copied from the Exome Variant Server ASNS_000051 90/12514 81/8252 9/4262 - - - - - - -
?/? c.775+18_775+19insAAA r.(=) p.(=) g.97488147_97488148insTTT Copied from the Exome Variant Server ASNS_000050 1/12514 1/8252 0/4262 - - - - - - -
?/? c.775+19del r.(=) p.(=) g.97488147del Copied from the Exome Variant Server ASNS_000049 18/12514 13/8252 5/4262 - - - - - - -
?/? c.775+19dup r.(=) p.(=) g.97488147dup Copied from the Exome Variant Server ASNS_000048 3037/12514 2347/8252 690/4262 - - - - - - -
?/? c.776-51C>T r.(=) p.(=) g.97487768G>A Copied from the Exome Variant Server ASNS_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.776-37A>G r.(=) p.(=) g.97487754T>C Copied from the Exome Variant Server ASNS_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.776-19C>A r.(=) p.(=) g.97487736G>T Copied from the Exome Variant Server ASNS_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.776-13C>T r.(=) p.(=) g.97487730G>A Copied from the Exome Variant Server ASNS_000044 1660/13006 1196/8600 464/4406 - - - - - - -
?/? c.829G>A r.(?) p.(Ala277Thr) g.97487664C>T Copied from the Exome Variant Server ASNS_000043 152/13006 4/8600 148/4406 - - - - - - -
?/? c.847C>T r.(?) p.(Leu283Phe) g.97487646G>A Copied from the Exome Variant Server ASNS_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.866G>A r.(?) p.(Gly289Asp) g.97487627C>T Copied from the Exome Variant Server ASNS_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.867C>A r.(=) p.(=) g.97487626G>T Copied from the Exome Variant Server ASNS_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.868A>G r.(?) p.(Met290Val) g.97487625T>C Copied from the Exome Variant Server ASNS_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.904-23_904-22insA r.(=) p.(=) g.97486150_97486151insT Copied from the Exome Variant Server ASNS_000038 1/12508 1/8244 0/4264 - - - - - - -
?/? c.904-3_904-1del r.spl? p.? g.97486129_97486131del Copied from the Exome Variant Server ASNS_000036 1/12516 0/8252 1/4264 - - - - - - -
?/? c.967G>A r.(?) p.(Ala323Thr) g.97486065C>T Copied from the Exome Variant Server ASNS_000034 1/13002 0/8596 1/4406 - - - - - - -
?/? c.1053T>C r.(=) p.(=) g.97484749A>G Copied from the Exome Variant Server ASNS_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1057C>T r.(?) p.(Arg353Trp) g.97484745G>A Copied from the Exome Variant Server ASNS_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1058G>A r.(?) p.(Arg353Gln) g.97484744C>T Copied from the Exome Variant Server ASNS_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1068A>G r.(=) p.(=) g.97484734T>C Copied from the Exome Variant Server ASNS_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1075G>A r.(?) p.(Val359Met) g.97484727C>T Copied from the Exome Variant Server ASNS_000024 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1113G>A r.(=) p.(=) g.97484689C>T Copied from the Exome Variant Server ASNS_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1137+17G>A r.(=) p.(=) g.97484648C>T Copied from the Exome Variant Server ASNS_000020 4/13006 3/8600 1/4406 - - - - - - -
?/? c.1137+26T>G r.(=) p.(=) g.97484639A>C Copied from the Exome Variant Server ASNS_000018 11/13006 9/8600 2/4406 - - - - - - -
?/? c.1209C>G r.(=) p.(=) g.97483921G>C Copied from the Exome Variant Server ASNS_000016 684/13006 619/8600 65/4406 - - - - - - -
?/? c.1210C>T r.(?) p.(Arg404Cys) g.97483920G>A Copied from the Exome Variant Server ASNS_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1238+30A>G r.(=) p.(=) g.97483862T>C Copied from the Exome Variant Server ASNS_000037 8/12998 0/8598 8/4400 - - - - - - -
?/? c.1238+40A>G r.(=) p.(=) g.97483852T>C Copied from the Exome Variant Server ASNS_000035 1/12990 0/8598 1/4392 - - - - - - -
?/? c.1238+52A>G r.(=) p.(=) g.97483840T>C Copied from the Exome Variant Server ASNS_000033 134/5732 0/3980 134/1752 - - - - - - -
?/? c.1239-45C>G r.(=) p.(=) g.97482743G>C Copied from the Exome Variant Server ASNS_000031 1/12950 1/8588 0/4362 - - - - - - -
?/? c.1239-43A>G r.(=) p.(=) g.97482741T>C Copied from the Exome Variant Server ASNS_000029 23/12962 21/8590 2/4372 - - - - - - -
?/? c.1272A>G r.(=) p.(=) g.97482665T>C Copied from the Exome Variant Server ASNS_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1300C>G r.(?) p.(Pro434Ala) g.97482637G>C Copied from the Exome Variant Server ASNS_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1320+7A>G r.(=) p.(=) g.97482610T>C Copied from the Exome Variant Server ASNS_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1320+8A>T r.(=) p.(=) g.97482609T>A Copied from the Exome Variant Server ASNS_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1321-14T>C r.(=) p.(=) g.97482541A>G Copied from the Exome Variant Server ASNS_000019 1/12988 1/8592 0/4396 - - - - - - -
?/? c.1353G>A r.(=) p.(=) g.97482495C>T Copied from the Exome Variant Server ASNS_000017 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1364C>T r.(?) p.(Ser455Phe) g.97482484G>A Copied from the Exome Variant Server ASNS_000015 21/13006 19/8600 2/4406 - - - - - - -
?/? c.1365C>T r.(=) p.(=) g.97482483G>A Copied from the Exome Variant Server ASNS_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1393C>T r.(?) p.(Arg465*) g.97482455G>A Copied from the Exome Variant Server ASNS_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1477-32G>A r.(=) p.(=) g.97481812C>T Copied from the Exome Variant Server ASNS_000011 2135/13006 1186/8600 949/4406 - - - - - - -
?/? c.1482T>C r.(=) p.(=) g.97481775A>G Copied from the Exome Variant Server ASNS_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1490T>C r.(?) p.(Met497Thr) g.97481767A>G Copied from the Exome Variant Server ASNS_000009 1/13002 1/8596 0/4406 - - - - - - -
?/? c.1509G>C r.(?) p.(Gln503His) g.97481748C>G Copied from the Exome Variant Server ASNS_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1526C>T r.(?) p.(Thr509Ile) g.97481731G>A Copied from the Exome Variant Server ASNS_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1570C>T r.(?) p.(Arg524Cys) g.97481687G>A Copied from the Exome Variant Server ASNS_000006 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1587G>A r.(=) p.(=) g.97481670C>T Copied from the Exome Variant Server ASNS_000005 21/13006 0/8600 21/4406 - - - - - - -
?/? c.*26G>A r.(=) p.(=) g.97481545C>T Copied from the Exome Variant Server ASNS_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*39C>T r.(=) p.(=) g.97481532G>A Copied from the Exome Variant Server ASNS_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*40G>A r.(=) p.(=) g.97481531C>T Copied from the Exome Variant Server ASNS_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*47A>G r.(=) p.(=) g.97481524T>C Copied from the Exome Variant Server ASNS_000001 1/13006 1/8600 0/4406 - - - - - - -
Legend