Unique variants in gene AAGAB

Information The variants shown are described using the NM_024666.3 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-23G>A r.(=) p.(=) g.67546992C>T Copied from the Exome Variant Server AAGAB_000078 6/11776 0/7914 6/3862
1 c.-16G>C r.(=) p.(=) g.67546985C>G Copied from the Exome Variant Server AAGAB_000077 47/11912 44/8010 3/3902
1 c.-10G>A r.(=) p.(=) g.67546979C>T Copied from the Exome Variant Server AAGAB_000076 23/11832 0/7976 23/3856
1 c.-4A>T r.(=) p.(=) g.67546973T>A Copied from the Exome Variant Server AAGAB_000075 1/12068 1/8126 0/3942
1 c.4G>C r.(?) p.(Ala2Pro) g.67546966C>G Copied from the Exome Variant Server AAGAB_000074 1/12176 0/8190 1/3986
1 c.5C>G r.(?) p.(Ala2Gly) g.67546965G>C Copied from the Exome Variant Server AAGAB_000073 1/12182 0/8194 1/3988
1 c.7G>C r.(?) p.(Ala3Pro) g.67546963C>G Copied from the Exome Variant Server AAGAB_000072 1/12200 1/8214 0/3986
1 c.8C>T r.(?) p.(Ala3Val) g.67546962G>A Copied from the Exome Variant Server AAGAB_000071 1/12186 0/8212 1/3974
1 c.9T>C r.(=) p.(=) g.67546961A>G Copied from the Exome Variant Server AAGAB_000070 12/12192 10/8218 2/3974
1 c.17C>T r.(?) p.(Pro6Leu) g.67546953G>A Copied from the Exome Variant Server AAGAB_000069 1/12290 0/8290 1/4000
1 c.18C>T r.(=) p.(=) g.67546952G>A Copied from the Exome Variant Server AAGAB_000068 1/12288 1/8290 0/3998
1 c.23C>T r.(?) p.(Ala8Val) g.67546947G>A Copied from the Exome Variant Server AAGAB_000067 1/12284 0/8288 1/3996
1 c.41C>T r.(?) p.(Ser14Phe) g.67546929G>A Copied from the Exome Variant Server AAGAB_000066 1/12266 0/8292 1/3974
1 c.51C>T r.(=) p.(=) g.67546919G>A Copied from the Exome Variant Server AAGAB_000065 4/12204 0/8282 4/3922
1 c.60C>A r.(?) p.(Asp20Glu) g.67546910G>T Copied from the Exome Variant Server AAGAB_000064 1/12180 0/8276 1/3904
1 c.76A>G r.(?) p.(Ile26Val) g.67529156T>C Copied from the Exome Variant Server AAGAB_000063 1/11906 1/8198 0/3708
1 c.78C>G r.(?) p.(Ile26Met) g.67529154G>C Copied from the Exome Variant Server AAGAB_000061 1/11908 0/8198 1/3710
1 c.90A>G r.(=) p.(=) g.67529142T>C Copied from the Exome Variant Server AAGAB_000059 1/11916 1/8204 0/3712
1 c.90_92del r.(?) p.(Glu30del) g.67529140_67529142del Copied from the Exome Variant Server AAGAB_000057 1/11452 1/7864 0/3588
1 c.100G>A r.(?) p.(Val34Met) g.67529132C>T Copied from the Exome Variant Server AAGAB_000054 6/11918 6/8200 0/3718
1 c.114C>T r.(=) p.(=) g.67529118G>A Copied from the Exome Variant Server AAGAB_000052 26/11916 26/8194 0/3722
1 c.116A>G r.(?) p.(Asn39Ser) g.67529116T>C Copied from the Exome Variant Server AAGAB_000051 1/11920 0/8196 1/3724
1 c.138C>G r.(=) p.(=) g.67529094G>C Copied from the Exome Variant Server AAGAB_000048 4/11890 4/8180 0/3710
1 c.146T>C r.(?) p.(Ile49Thr) g.67529086A>G Copied from the Exome Variant Server AAGAB_000046 1/11886 1/8184 0/3702
1 c.161A>G r.(?) p.(Tyr54Cys) g.67529071T>C Copied from the Exome Variant Server AAGAB_000044 8/11864 0/8170 8/3694
1 c.204T>C r.(=) p.(=) g.67529028A>G Copied from the Exome Variant Server AAGAB_000042 1/11846 1/8186 0/3660
1 c.264+16C>T r.(=) p.(=) g.67528952G>A Copied from the Exome Variant Server AAGAB_000040 1/11832 1/8182 0/3650
1 c.264+18A>G r.(=) p.(=) g.67528950T>C Copied from the Exome Variant Server AAGAB_000038 5/11830 5/8178 0/3652
1 c.264+33A>G r.(=) p.(=) g.67528935T>C Copied from the Exome Variant Server AAGAB_000036 6/11826 2/8168 4/3658
1 c.265-49_265-46del r.(=) p.(=) g.67528888_67528891del Copied from the Exome Variant Server AAGAB_000033 5/11364 2/7822 3/3542
1 c.329T>A r.(?) p.(Met110Lys) g.67528778A>T Copied from the Exome Variant Server AAGAB_000030 57/12298 49/8318 8/3980
1 c.343G>A r.(?) p.(Asp115Asn) g.67528764C>T Copied from the Exome Variant Server AAGAB_000062 2/12330 2/8344 0/3986
1 c.371G>A r.(?) p.(Arg124Gln) g.67528397C>T Copied from the Exome Variant Server AAGAB_000060 2/11854 2/8172 0/3682
1 c.375A>G r.(=) p.(=) g.67528393T>C Copied from the Exome Variant Server AAGAB_000058 2/11866 2/8178 0/3688
1 c.394A>C r.(?) p.(Ile132Leu) g.67528374T>G Copied from the Exome Variant Server AAGAB_000056 3031/11938 2639/8214 392/3724
1 c.408T>C r.(=) p.(=) g.67528360A>G Copied from the Exome Variant Server AAGAB_000055 66/11952 0/8224 66/3728
1 c.415G>A r.(?) p.(Val139Ile) g.67528353C>T Copied from the Exome Variant Server AAGAB_000053 5/11964 5/8226 0/3738
1 c.452-32T>C r.(=) p.(=) g.67524267A>G Copied from the Exome Variant Server AAGAB_000050 2/11914 0/8210 2/3704
1 c.452-14C>T r.(=) p.(=) g.67524249G>A Copied from the Exome Variant Server AAGAB_000049 1/11930 0/8224 1/3706
1 c.452-7T>C r.(=) p.(=) g.67524242A>G Copied from the Exome Variant Server AAGAB_000047 1/11930 1/8222 0/3708
1 c.467C>G r.(?) p.(Ser156Cys) g.67524220G>C Copied from the Exome Variant Server AAGAB_000045 1/12040 1/8254 0/3786
1 c.475G>A r.(?) p.(Val159Ile) g.67524212C>T Copied from the Exome Variant Server AAGAB_000043 1/12086 0/8270 1/3816
1 c.493G>A r.(?) p.(Ala165Thr) g.67524194C>T Copied from the Exome Variant Server AAGAB_000041 1/12140 0/8288 1/3852
1 c.534T>C r.(=) p.(=) g.67524153A>G Copied from the Exome Variant Server AAGAB_000039 1/12094 0/8262 1/3832
1 c.535+20A>T r.(=) p.(=) g.67524132T>A Copied from the Exome Variant Server AAGAB_000037 1/12034 0/8236 1/3798
1 c.618+3A>G r.spl? p.? g.67501797T>C Copied from the Exome Variant Server AAGAB_000034 1/11788 1/8158 0/3630
1 c.618+17G>T r.(=) p.(=) g.67501783C>A Copied from the Exome Variant Server AAGAB_000031 2/11792 0/8166 2/3626
1 c.618+18A>G r.(=) p.(=) g.67501782T>C Copied from the Exome Variant Server AAGAB_000028 3099/11792 1956/8166 1143/3626
1 c.618+26T>C r.(=) p.(=) g.67501774A>G Copied from the Exome Variant Server AAGAB_000026 39/11792 0/8168 39/3624
1 c.619-42G>C r.(=) p.(=) g.67501038C>G Copied from the Exome Variant Server AAGAB_000024 1/11940 1/8194 0/3746
1 c.619-37C>T r.(=) p.(=) g.67501033G>A Copied from the Exome Variant Server AAGAB_000021 2183/11954 1854/8196 329/3758
1 c.622C>T r.(?) p.(Pro208Ser) g.67500993G>A Copied from the Exome Variant Server AAGAB_000020 4/12082 3/8258 1/3824
1 c.641A>G r.(?) p.(Asp214Gly) g.67500974T>C Copied from the Exome Variant Server AAGAB_000017 1/12130 1/8266 0/3864
1 c.658T>C r.(?) p.(Ser220Pro) g.67500957A>G Copied from the Exome Variant Server AAGAB_000016 19/12138 0/8280 19/3858
1 c.668G>A r.(?) p.(Arg223Gln) g.67500947C>T Copied from the Exome Variant Server AAGAB_000013 4/12150 4/8288 0/3862
1 c.669G>A r.(=) p.(=) g.67500946C>T Copied from the Exome Variant Server AAGAB_000011 1/12152 1/8288 0/3864
1 c.674G>A r.(?) p.(Gly225Asp) g.67500941C>T Copied from the Exome Variant Server AAGAB_000035 1/12170 1/8296 0/3874
1 c.682A>G r.(?) p.(Asn228Asp) g.67500933T>C Copied from the Exome Variant Server AAGAB_000032 69/12160 0/8300 69/3860
1 c.696C>T r.(=) p.(=) g.67500919G>A Copied from the Exome Variant Server AAGAB_000029 5/12142 4/8284 1/3858
1 c.715+14T>C r.(=) p.(=) g.67500886A>G Copied from the Exome Variant Server AAGAB_000027 1/12070 1/8264 0/3806
1 c.715+23_715+24del r.(=) p.(=) g.67500876_67500877del Copied from the Exome Variant Server AAGAB_000025 1/11560 0/7904 1/3656
1 c.716-42T>C r.(=) p.(=) g.67496528A>G Copied from the Exome Variant Server AAGAB_000023 118/12180 3/8318 115/3862
1 c.727G>C r.(?) p.(Asp243His) g.67496475C>G Copied from the Exome Variant Server AAGAB_000022 1/12030 0/8256 1/3774
1 c.744A>T r.(?) p.(Glu248Asp) g.67496458T>A Copied from the Exome Variant Server AAGAB_000019 1/11976 1/8232 0/3744
1 c.748G>C r.(?) p.(Ala250Pro) g.67496454C>G Copied from the Exome Variant Server AAGAB_000018 1/11978 1/8234 0/3744
1 c.757A>G r.(?) p.(Thr253Ala) g.67496445T>C Copied from the Exome Variant Server AAGAB_000015 2/11966 2/8230 0/3736
1 c.775G>T r.(?) p.(Val259Leu) g.67496427C>A Copied from the Exome Variant Server AAGAB_000014 1/11954 0/8226 1/3728
1 c.814A>G r.(?) p.(Met272Val) g.67496388T>C Copied from the Exome Variant Server AAGAB_000012 1/11952 1/8236 0/3716
1 c.815T>C r.(?) p.(Met272Thr) g.67496387A>G Copied from the Exome Variant Server AAGAB_000010 1/11954 1/8238 0/3716
1 c.821-14T>C r.(=) p.(=) g.67495949A>G Copied from the Exome Variant Server AAGAB_000009 1/11894 0/8198 1/3696
1 c.830C>T r.(?) p.(Ala277Val) g.67495926G>A Copied from the Exome Variant Server AAGAB_000008 6/11906 6/8200 0/3706
1 c.870+73A>T r.(=) p.(=) g.67495813T>A Copied from the Exome Variant Server AAGAB_000007 48/4560 45/3180 3/1380
1 c.871-62A>G r.(=) p.(=) g.67495298T>C Copied from the Exome Variant Server AAGAB_000006 18/4560 18/3180 0/1380
1 c.871-16A>G r.(=) p.(=) g.67495252T>C Copied from the Exome Variant Server AAGAB_000005 1/12092 1/8274 0/3818
1 c.897C>T r.(=) p.(=) g.67495210G>A Copied from the Exome Variant Server AAGAB_000004 2/12000 2/8234 0/3766
1 c.901G>A r.(?) p.(Gly301Arg) g.67495206C>T Copied from the Exome Variant Server AAGAB_000003 1/12014 0/8234 1/3780
1 c.921A>C r.(?) p.(Glu307Asp) g.67495186T>G Copied from the Exome Variant Server AAGAB_000002 1/11976 1/8220 0/3756
1 c.936T>A r.(?) p.(Asp312Glu) g.67495171A>T Copied from the Exome Variant Server AAGAB_000001 1/11976 1/8212 0/3764
Legend