All transcript variants in gene AADACL3

Information The variants shown are described using the NM_001103169.1 transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-51C>T r.(=) p.(=) g.12776293C>T Copied from the Exome Variant Server AADACL3_000001 1/12522 1/8414 0/4108
?/? c.-1C>T r.(=) p.(=) g.12776343C>T Copied from the Exome Variant Server AADACL3_000002 3/12478 2/8394 1/4084
?/? c.1A>T r.? p.? g.12776344A>T Copied from the Exome Variant Server AADACL3_000003 9058/12472 6978/8394 2080/4078
?/? c.4+21G>A r.(=) p.(=) g.12776368G>A Copied from the Exome Variant Server AADACL3_000004 5/12382 0/8370 5/4012
?/? c.4+34G>A r.(=) p.(=) g.12776381G>A Copied from the Exome Variant Server AADACL3_000005 2/12296 0/8362 2/3934
?/? c.4+69C>T r.(=) p.(=) g.12776416C>T Copied from the Exome Variant Server AADACL3_000006 23/4566 3/3182 20/1384
?/? c.4+91C>T r.(=) p.(=) g.12776438C>T Copied from the Exome Variant Server AADACL3_000007 1/4566 1/3182 0/1384
?/? c.4+94C>T r.(=) p.(=) g.12776441C>T Copied from the Exome Variant Server AADACL3_000008 8/4566 8/3182 0/1384
?/? c.5-1436G>T r.(=) p.(=) g.12779449G>T Copied from the Exome Variant Server AADACL3_000009 1/12038 1/8242 0/3796
?/? c.5-1421C>T r.(=) p.(=) g.12779464C>T Copied from the Exome Variant Server AADACL3_000010 1/12014 1/8236 0/3778
?/? c.5-1354A>G r.(=) p.(=) g.12779531A>G Copied from the Exome Variant Server AADACL3_000011 1/12180 1/8286 0/3894
?/? c.5-1338C>T r.(=) p.(=) g.12779547C>T Copied from the Exome Variant Server AADACL3_000012 43/12212 0/8306 43/3906
?/? c.5-1337G>A r.(=) p.(=) g.12779548G>A Copied from the Exome Variant Server AADACL3_000013 1/12224 1/8302 0/3922
?/? c.5-1336C>T r.(=) p.(=) g.12779549C>T Copied from the Exome Variant Server AADACL3_000014 1/12226 0/8304 1/3922
?/? c.5-1331G>A r.(=) p.(=) g.12779554G>A Copied from the Exome Variant Server AADACL3_000015 1/12240 1/8314 0/3926
?/? c.5-1325T>C r.(=) p.(=) g.12779560T>C Copied from the Exome Variant Server AADACL3_000016 10473/12224 6892/8310 3581/3914
?/? c.5-1321G>A r.(=) p.(=) g.12779564G>A Copied from the Exome Variant Server AADACL3_000017 4/12240 0/8314 4/3926
?/? c.5-1308C>T r.(=) p.(=) g.12779577C>T Copied from the Exome Variant Server AADACL3_000018 2/12262 2/8322 0/3940
?/? c.5-1307G>A r.(=) p.(=) g.12779578G>A Copied from the Exome Variant Server AADACL3_000019 9/12290 7/8326 2/3964
?/? c.5-1300C>T r.(=) p.(=) g.12779585C>T Copied from the Exome Variant Server AADACL3_000020 1/12276 0/8318 1/3958
?/? c.5-1299G>A r.(=) p.(=) g.12779586G>A Copied from the Exome Variant Server AADACL3_000021 51/12272 1/8322 50/3950
?/? c.5-1267T>C r.(=) p.(=) g.12779618T>C Copied from the Exome Variant Server AADACL3_000022 10571/12328 6915/8336 3656/3992
?/? c.5-1231G>A r.(=) p.(=) g.12779654G>A Copied from the Exome Variant Server AADACL3_000023 6/12220 0/8302 6/3918
?/? c.5-1219G>T r.(=) p.(=) g.12779666G>T Copied from the Exome Variant Server AADACL3_000024 4/12152 0/8278 4/3874
?/? c.5-1209G>C r.(=) p.(=) g.12779676G>C Copied from the Exome Variant Server AADACL3_000025 2/12128 0/8278 2/3850
?/? c.5-1208C>T r.(=) p.(=) g.12779677C>T Copied from the Exome Variant Server AADACL3_000026 1/12126 1/8276 0/3850
?/? c.5-1207G>A r.(=) p.(=) g.12779678G>A Copied from the Exome Variant Server AADACL3_000027 6/12112 6/8276 0/3836
?/? c.5-1204A>G r.(=) p.(=) g.12779681A>G Copied from the Exome Variant Server AADACL3_000028 1/12096 0/8266 1/3830
?/? c.5-1182A>G r.(=) p.(=) g.12779703A>G Copied from the Exome Variant Server AADACL3_000029 2/12098 0/8268 2/3830
?/? c.5-1161G>T r.(=) p.(=) g.12779724G>T Copied from the Exome Variant Server AADACL3_000030 18/12062 2/8258 16/3804
?/? c.5-69A>C r.(=) p.(=) g.12780816A>C Copied from the Exome Variant Server AADACL3_000031 7/4566 7/3182 0/1384
?/? c.29G>A r.(?) p.(Arg10His) g.12780909G>A Copied from the Exome Variant Server AADACL3_000032 14/12080 0/8248 14/3832
?/? c.49T>C r.(?) p.(Ser17Pro) g.12780929T>C Copied from the Exome Variant Server AADACL3_000033 1/12100 1/8260 0/3840
?/? c.68+5G>A r.spl? p.? g.12780953G>A Copied from the Exome Variant Server AADACL3_000034 1/12074 0/8246 1/3828
?/? c.68+8A>G r.(=) p.(=) g.12780956A>G Copied from the Exome Variant Server AADACL3_000035 3/12062 0/8242 3/3820
?/? c.68+24G>A r.(=) p.(=) g.12780972G>A Copied from the Exome Variant Server AADACL3_000036 1/12016 1/8230 0/3786
?/? c.69-38C>T r.(=) p.(=) g.12785151C>T Copied from the Exome Variant Server AADACL3_000037 2/12116 0/8264 2/3852
?/? c.69-24C>T r.(=) p.(=) g.12785165C>T Copied from the Exome Variant Server AADACL3_000038 31/12180 4/8280 27/3900
?/? c.69-23T>C r.(=) p.(=) g.12785166T>C Copied from the Exome Variant Server AADACL3_000039 1/12176 1/8280 0/3896
?/? c.73C>T r.(?) p.(Arg25Cys) g.12785193C>T Copied from the Exome Variant Server AADACL3_000040 1/12236 1/8310 0/3926
?/? c.78G>A r.(=) p.(=) g.12785198G>A Copied from the Exome Variant Server AADACL3_000041 53/12246 1/8314 52/3932
?/? c.80T>C r.(?) p.(Leu27Ser) g.12785200T>C Copied from the Exome Variant Server AADACL3_000042 12/12242 12/8314 0/3928
?/? c.175C>T r.(?) p.(Arg59Trp) g.12785295C>T Copied from the Exome Variant Server AADACL3_000043 75/12226 69/8320 6/3906
?/? c.189C>T r.(=) p.(=) g.12785309C>T Copied from the Exome Variant Server AADACL3_000044 1/12222 1/8318 0/3904
?/? c.201C>T r.(=) p.(=) g.12785321C>T Copied from the Exome Variant Server AADACL3_000045 2/12178 1/8288 1/3890
?/? c.202G>A r.(?) p.(Gly68Arg) g.12785322G>A Copied from the Exome Variant Server AADACL3_000046 1/12184 1/8294 0/3890
?/? c.217G>A r.(?) p.(Ala73Thr) g.12785337G>A Copied from the Exome Variant Server AADACL3_000047 21/12126 0/8268 21/3858
?/? c.221T>C r.(?) p.(Val74Ala) g.12785341T>C Copied from the Exome Variant Server AADACL3_000048 1/12134 1/8272 0/3862
?/? c.259C>T r.(?) p.(Arg87Trp) g.12785379C>T Copied from the Exome Variant Server AADACL3_000049 3/12004 2/8212 1/3792
?/? c.260G>A r.(?) p.(Arg87Gln) g.12785380G>A Copied from the Exome Variant Server AADACL3_000050 14/12002 0/8208 14/3794
?/? c.295C>T r.(?) p.(Gln99*) g.12785415C>T Copied from the Exome Variant Server AADACL3_000051 1/11984 0/8212 1/3772
?/? c.321G>A r.(=) p.(=) g.12785441G>A Copied from the Exome Variant Server AADACL3_000052 1/11956 0/8202 1/3754
?/? c.327A>G r.(=) p.(=) g.12785447A>G Copied from the Exome Variant Server AADACL3_000053 1/11954 1/8198 0/3756
?/? c.331A>G r.(?) p.(Arg111Gly) g.12785451A>G Copied from the Exome Variant Server AADACL3_000054 13/11960 0/8202 13/3758
?/? c.361T>C r.(?) p.(Phe121Leu) g.12785481T>C Copied from the Exome Variant Server AADACL3_000055 1/11922 0/8198 1/3724
?/? c.365T>C r.(?) p.(Ile122Thr) g.12785485T>C Copied from the Exome Variant Server AADACL3_000056 1/11908 0/8196 1/3712
?/? c.374G>T r.(?) p.(Cys125Phe) g.12785494G>T Copied from the Exome Variant Server AADACL3_000057 7936/11896 5994/8188 1942/3708
?/? c.465A>G r.(=) p.(=) g.12785585A>G Copied from the Exome Variant Server AADACL3_000058 1/11956 1/8214 0/3742
?/? c.488T>A r.(?) p.(Ile163Asn) g.12785608T>A Copied from the Exome Variant Server AADACL3_000059 32/12068 1/8244 31/3824
?/? c.540G>T r.(?) p.(Met180Ile) g.12785660G>T Copied from the Exome Variant Server AADACL3_000060 216/12374 2/8360 214/4014
?/? c.601G>A r.(?) p.(Ala201Thr) g.12785721G>A Copied from the Exome Variant Server AADACL3_000061 5/12576 5/8430 0/4146
?/? c.629C>T r.(?) p.(Pro210Leu) g.12785749C>T Copied from the Exome Variant Server AADACL3_000062 1122/12528 499/8418 623/4110
?/? c.630G>A r.(=) p.(=) g.12785750G>A Copied from the Exome Variant Server AADACL3_000063 12/12528 12/8418 0/4110
?/? c.660T>C r.(=) p.(=) g.12785780T>C Copied from the Exome Variant Server AADACL3_000064 1/12492 1/8386 0/4106
?/? c.663T>C r.(=) p.(=) g.12785783T>C Copied from the Exome Variant Server AADACL3_000065 1/12452 1/8376 0/4076
?/? c.667C>T r.(?) p.(Arg223Trp) g.12785787C>T Copied from the Exome Variant Server AADACL3_000066 2/12416 1/8350 1/4066
?/? c.668G>A r.(?) p.(Arg223Gln) g.12785788G>A Copied from the Exome Variant Server AADACL3_000067 1/12400 1/8348 0/4052
?/? c.708G>T r.(=) p.(=) g.12785828G>T Copied from the Exome Variant Server AADACL3_000068 1/12304 0/8306 1/3998
?/? c.717C>T r.(=) p.(=) g.12785837C>T Copied from the Exome Variant Server AADACL3_000069 1/12300 1/8296 0/4004
?/? c.721A>G r.(?) p.(Thr241Ala) g.12785841A>G Copied from the Exome Variant Server AADACL3_000070 1/12266 1/8288 0/3978
?/? c.751G>T r.(?) p.(Gly251*) g.12785871G>T Copied from the Exome Variant Server AADACL3_000071 1/12262 0/8310 1/3952
?/? c.777C>T r.(=) p.(=) g.12785897C>T Copied from the Exome Variant Server AADACL3_000072 3/12284 1/8334 2/3950
?/? c.791C>T r.(?) p.(Pro264Leu) g.12785911C>T Copied from the Exome Variant Server AADACL3_000073 4/12284 4/8344 0/3940
?/? c.*5C>T r.(=) p.(=) g.12785968C>T Copied from the Exome Variant Server AADACL3_000074 1/12280 1/8336 0/3944
?/? c.*18T>C r.(=) p.(=) g.12785981T>C Copied from the Exome Variant Server AADACL3_000075 1/12284 1/8344 0/3940
?/? c.*51C>A r.(=) p.(=) g.12786014C>A Copied from the Exome Variant Server AADACL3_000076 9/12232 0/8324 9/3908
Legend