Full data view for gene GRIA3

Information The variants shown are described using the NM_000828.4 transcript reference sequence.

130 entries on 2 pages. Showing entries 1 - 100.
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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.-47A>C N/A N/A g.122318341A>C Copied from the Exome Variant Server GRIA3_000001 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-16T>C r.(=) p.(=) g.122318372T>C Copied from the Exome Variant Server GRIA3_000002 6/10563 6/6728 0/3835 - - - - - - -
?/? c.-2_-1insC r.(=) p.(=) g.122318386_122318387insC Copied from the Exome Variant Server GRIA3_000004 1/10205 0/6484 1/3721 - - - - - - -
?/? c.-2_-1insG r.(=) p.(=) g.122318386_122318387insG Copied from the Exome Variant Server GRIA3_000003 10201/10205 6484/6484 3717/3721 - - - - - - -
?/? c.15G>A r.(=) p.(=) g.122318402G>A Copied from the Exome Variant Server GRIA3_000005 101/10563 2/6728 99/3835 - - - - - - -
?/? c.36C>T r.(=) p.(=) g.122318423C>T Copied from the Exome Variant Server GRIA3_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.43G>A r.(?) p.(Val15Ile) g.122318430G>A Copied from the Exome Variant Server GRIA3_000007 1/10563 0/6728 1/3835 - - - - - - -
?/? c.109+21C>T r.(=) p.(=) g.122318517C>T Copied from the Exome Variant Server GRIA3_000008 1/10563 0/6728 1/3835 - - - - - - -
?/? c.110-48C>A r.(=) p.(=) g.122319636C>A Copied from the Exome Variant Server GRIA3_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.110-43T>A r.(=) p.(=) g.122319641T>A Copied from the Exome Variant Server GRIA3_000010 4/10563 4/6728 0/3835 - - - - - - -
?/? c.159T>C r.(=) p.(=) g.122319733T>C Copied from the Exome Variant Server GRIA3_000011 3/10563 3/6728 0/3835 - - - - - - -
?/? c.171A>G r.(=) p.(=) g.122319745A>G Copied from the Exome Variant Server GRIA3_000012 1/10563 0/6728 1/3835 - - - - - - -
?/? c.179C>T r.(?) p.(Thr60Ile) g.122319753C>T Copied from the Exome Variant Server GRIA3_000013 1/10563 0/6728 1/3835 - - - - - - -
?/? c.285G>A r.(=) p.(=) g.122387170G>A Copied from the Exome Variant Server GRIA3_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.379C>G r.(?) p.(Pro127Ala) g.122387264C>G Copied from the Exome Variant Server GRIA3_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.390C>T r.(=) p.(=) g.122387275C>T Copied from the Exome Variant Server GRIA3_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.397G>A r.(?) p.(Ala133Thr) g.122387282G>A Copied from the Exome Variant Server GRIA3_000017 12/10563 0/6728 12/3835 - - - - - - -
?/? c.403G>A r.(?) p.(Val135Met) g.122387288G>A Copied from the Exome Variant Server GRIA3_000018 1/10563 1/6728 0/3835 - - - - - - -
?/? c.466T>C r.(?) p.(Tyr156His) g.122387351T>C Copied from the Exome Variant Server GRIA3_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.580G>A r.(?) p.(Gly194Arg) g.122459948G>A Copied from the Exome Variant Server GRIA3_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.609G>T r.(?) p.(Arg203Ser) g.122459977G>T Copied from the Exome Variant Server GRIA3_000021 2/10563 2/6728 0/3835 - - - - - - -
?/? c.676A>G r.(?) p.(Ile226Val) g.122460044A>G Copied from the Exome Variant Server GRIA3_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.696+35T>C r.(=) p.(=) g.122460099T>C Copied from the Exome Variant Server GRIA3_000023 4/10563 0/6728 4/3835 - - - - - - -
?/? c.697-42C>A r.(=) p.(=) g.122488719C>A Copied from the Exome Variant Server GRIA3_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.697-29G>A r.(=) p.(=) g.122488732G>A Copied from the Exome Variant Server GRIA3_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.717C>T r.(=) p.(=) g.122488781C>T Copied from the Exome Variant Server GRIA3_000026 1/10563 0/6728 1/3835 - - - - - - -
?/? c.751-42A>G r.(=) p.(=) g.122528777A>G Copied from the Exome Variant Server GRIA3_000027 7/10562 3/6728 4/3834 - - - - - - -
?/? c.751-16T>C r.(=) p.(=) g.122528803T>C Copied from the Exome Variant Server GRIA3_000028 5701/10563 4112/6728 1589/3835 - - - - - - -
?/? c.770T>C r.(?) p.(Leu257Pro) g.122528838T>C Copied from the Exome Variant Server GRIA3_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.912+48A>G r.(=) p.(=) g.122529028A>G Copied from the Exome Variant Server GRIA3_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.913-50T>C r.(=) p.(=) g.122532437T>C Copied from the Exome Variant Server GRIA3_000031 1/10562 0/6728 1/3834 - - - - - - -
?/? c.913-46G>A r.(=) p.(=) g.122532441G>A Copied from the Exome Variant Server GRIA3_000032 36/10563 0/6728 36/3835 - - - - - - -
?/? c.913-36T>C r.(=) p.(=) g.122532451T>C Copied from the Exome Variant Server GRIA3_000033 1/10563 0/6728 1/3835 - - - - - - -
?/? c.913-29A>G r.(=) p.(=) g.122532458A>G Copied from the Exome Variant Server GRIA3_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.913-15A>G r.(=) p.(=) g.122532472A>G Copied from the Exome Variant Server GRIA3_000035 18/10563 0/6728 18/3835 - - - - - - -
?/? c.918A>G r.(=) p.(=) g.122532492A>G Copied from the Exome Variant Server GRIA3_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.933C>T r.(=) p.(=) g.122532507C>T Copied from the Exome Variant Server GRIA3_000037 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1080+6G>A r.(=) p.(=) g.122532660G>A Copied from the Exome Variant Server GRIA3_000038 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1080+13A>G r.(=) p.(=) g.122532667A>G Copied from the Exome Variant Server GRIA3_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1080+14T>C r.(=) p.(=) g.122532668T>C Copied from the Exome Variant Server GRIA3_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1080+20A>C r.(=) p.(=) g.122532674A>C Copied from the Exome Variant Server GRIA3_000041 138/10563 6/6728 132/3835 - - - - - - -
?/? c.1080+40T>C r.(=) p.(=) g.122532694T>C Copied from the Exome Variant Server GRIA3_000042 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1080+47A>G r.(=) p.(=) g.122532701A>G Copied from the Exome Variant Server GRIA3_000043 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1131T>C r.(=) p.(=) g.122536895T>C Copied from the Exome Variant Server GRIA3_000044 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1150G>A r.(?) p.(Asp384Asn) g.122536914G>A Copied from the Exome Variant Server GRIA3_000045 2/10561 0/6726 2/3835 - - - - - - -
?/? c.1158T>C r.(=) p.(=) g.122536922T>C Copied from the Exome Variant Server GRIA3_000046 2/10561 2/6726 0/3835 - - - - - - -
?/? c.1166A>C r.(?) p.(Lys389Thr) g.122536930A>C Copied from the Exome Variant Server GRIA3_000047 4/10561 3/6726 1/3835 - - - - - - -
?/? c.1174G>A r.(?) p.(Gly392Ser) g.122536938G>A Copied from the Exome Variant Server GRIA3_000048 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1181G>A r.(?) p.(Arg394Gln) g.122536945G>A Copied from the Exome Variant Server GRIA3_000049 14/10561 13/6726 1/3835 - - - - - - -
?/? c.1185+50A>G r.(=) p.(=) g.122536999A>G Copied from the Exome Variant Server GRIA3_000050 1/10560 1/6725 0/3835 - - - - - - -
?/? c.1200T>C r.(=) p.(=) g.122537277T>C Copied from the Exome Variant Server GRIA3_000051 5762/10563 4115/6728 1647/3835 - - - - - - -
?/? c.1211G>C r.(?) p.(Arg404Thr) g.122537288G>C Copied from the Exome Variant Server GRIA3_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1293+6T>C r.(=) p.(=) g.122537376T>C Copied from the Exome Variant Server GRIA3_000053 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1293+48C>T r.(=) p.(=) g.122537418C>T Copied from the Exome Variant Server GRIA3_000054 6092/10560 4097/6727 1995/3833 - - - - - - -
?/? c.1326T>C r.(=) p.(=) g.122538591T>C Copied from the Exome Variant Server GRIA3_000055 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1349G>A r.(?) p.(Arg450Gln) g.122538614G>A Copied from the Exome Variant Server GRIA3_000056 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1473C>T r.(=) p.(=) g.122538738C>T Copied from the Exome Variant Server GRIA3_000057 4/10563 0/6728 4/3835 - - - - - - -
?/? c.1501-21_1501-20insA r.(=) p.(=) g.122551232_122551233insA Copied from the Exome Variant Server GRIA3_000059 4/10194 4/6475 0/3719 - - - - - - -
?/? c.1501-21_1501-20insT r.(=) p.(=) g.122551232_122551233insT Copied from the Exome Variant Server GRIA3_000058 14/10194 5/6475 9/3719 - - - - - - -
?/? c.1501-8T>A r.(=) p.(=) g.122551245T>A Copied from the Exome Variant Server GRIA3_000060 75/10558 68/6723 7/3835 - - - - - - -
?/? c.1786C>A r.(?) p.(Pro596Thr) g.122551538C>A Copied from the Exome Variant Server GRIA3_000061 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1877+29C>T r.(=) p.(=) g.122551658C>T Copied from the Exome Variant Server GRIA3_000062 1/10547 1/6717 0/3830 - - - - - - -
?/? c.1877+47T>C r.(=) p.(=) g.122551676T>C Copied from the Exome Variant Server GRIA3_000063 1/10520 0/6702 1/3818 - - - - - - -
?/? c.1878-39C>T r.(=) p.(=) g.122561753C>T Copied from the Exome Variant Server GRIA3_000064 8/10561 8/6726 0/3835 - - - - - - -
?/? c.1878-32G>A r.(=) p.(=) g.122561760G>A Copied from the Exome Variant Server GRIA3_000065 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1878-3T>C r.spl? p.? g.122561789T>C Copied from the Exome Variant Server GRIA3_000066 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2076+10963A>G r.(=) p.(=) g.122572953A>G Copied from the Exome Variant Server GRIA3_000067 7/3600 0/2391 7/1209 - - - - - - -
?/? c.2076+11039G>A r.(=) p.(=) g.122573029G>A Copied from the Exome Variant Server GRIA3_000068 1/3600 1/2391 0/1209 - - - - - - -
?/? c.2076+12952_2076+12953insA r.(=) p.(=) g.122574942_122574943insA Copied from the Exome Variant Server GRIA3_000069 1/4503 0/2961 1/1542 - - - - - - -
?/? c.2077-17760G>A r.(=) p.(=) g.122580956G>A Copied from the Exome Variant Server GRIA3_000070 22/3600 22/2391 0/1209 - - - - - - -
?/? c.2077-17739T>C r.(=) p.(=) g.122580977T>C Copied from the Exome Variant Server GRIA3_000071 4/3600 4/2391 0/1209 - - - - - - -
?/? c.2077-17666A>G r.(=) p.(=) g.122581050A>G Copied from the Exome Variant Server GRIA3_000072 161/3595 1/2386 160/1209 - - - - - - -
?/? c.2077-16301T>G r.(=) p.(=) g.122582415T>G Copied from the Exome Variant Server GRIA3_000073 6/3600 0/2391 6/1209 - - - - - - -
?/? c.2077-15793T>C r.(=) p.(=) g.122582923T>C Copied from the Exome Variant Server GRIA3_000074 1920/3600 1284/2391 636/1209 - - - - - - -
?/? c.2077-15683T>C r.(=) p.(=) g.122583033T>C Copied from the Exome Variant Server GRIA3_000075 6/3600 0/2391 6/1209 - - - - - - -
?/? c.2077-15617T>C r.(=) p.(=) g.122583099T>C Copied from the Exome Variant Server GRIA3_000076 1/3600 0/2391 1/1209 - - - - - - -
?/? c.2077-14441_2077-14440insA r.(=) p.(=) g.122584275_122584276insA Copied from the Exome Variant Server GRIA3_000077 28/4714 1/2992 27/1722 - - - - - - -
?/? c.2077-14092G>A r.(=) p.(=) g.122584624G>A Copied from the Exome Variant Server GRIA3_000078 84/3600 1/2391 83/1209 - - - - - - -
?/? c.2077-13966T>A r.(=) p.(=) g.122584750T>A Copied from the Exome Variant Server GRIA3_000079 14/3600 0/2391 14/1209 - - - - - - -
?/? c.2077-13938G>A r.(=) p.(=) g.122584778G>A Copied from the Exome Variant Server GRIA3_000080 11/3600 0/2391 11/1209 - - - - - - -
?/? c.2077-13931G>A r.(=) p.(=) g.122584785G>A Copied from the Exome Variant Server GRIA3_000081 21/3600 1/2391 20/1209 - - - - - - -
?/? c.2077-13863_2077-13860del r.(=) p.(=) g.122584853_122584856del Copied from the Exome Variant Server GRIA3_000082 10/5447 2/3426 8/2021 - - - - - - -
?/? c.2077-13445_2077-13444insA r.(=) p.(=) g.122585271_122585272insA Copied from the Exome Variant Server GRIA3_000083 18/3894 10/2336 8/1558 - - - - - - -
?/? c.2077-13359_2077-13346del r.(=) p.(=) g.122585357_122585370del Copied from the Exome Variant Server GRIA3_000084 64/2798 1/1879 63/919 - - - - - - -
?/? c.2077-13350_2077-13346del r.(=) p.(=) g.122585366_122585370del Copied from the Exome Variant Server GRIA3_000085 1265/2798 838/1879 427/919 - - - - - - -
?/? c.2077-13227T>C r.(=) p.(=) g.122585489T>C Copied from the Exome Variant Server GRIA3_000086 68/3600 63/2391 5/1209 - - - - - - -
?/? c.2077-13208G>T r.(=) p.(=) g.122585508G>T Copied from the Exome Variant Server GRIA3_000087 1/3600 1/2391 0/1209 - - - - - - -
?/? c.2077-12638A>G r.(=) p.(=) g.122586078A>G Copied from the Exome Variant Server GRIA3_000088 9/3600 9/2391 0/1209 - - - - - - -
?/? c.2077-12627A>G r.(=) p.(=) g.122586089A>G Copied from the Exome Variant Server GRIA3_000089 278/3600 253/2391 25/1209 - - - - - - -
?/? c.2077-12598A>G r.(=) p.(=) g.122586118A>G Copied from the Exome Variant Server GRIA3_000090 1/3600 1/2391 0/1209 - - - - - - -
?/? c.2077-12591T>C r.(=) p.(=) g.122586125T>C Copied from the Exome Variant Server GRIA3_000091 1/3600 0/2391 1/1209 - - - - - - -
?/? c.2077-12510del r.(=) p.(=) g.122586206del Copied from the Exome Variant Server GRIA3_000092 698/4283 247/2776 451/1507 - - - - - - -
?/? c.2077-12503C>A r.(=) p.(=) g.122586213C>A Copied from the Exome Variant Server GRIA3_000094 53/3600 28/2391 25/1209 - - - - - - -
?/? c.2077-12503dup r.(=) p.(=) g.122586213dup Copied from the Exome Variant Server GRIA3_000096 62/4387 20/2841 42/1546 - - - - - - -
?/? c.2077-12502del r.(=) p.(=) g.122586214del Copied from the Exome Variant Server GRIA3_000095 484/4387 389/2841 95/1546 - - - - - - -
?/? c.2077-12502dup r.(=) p.(=) g.122586214dup Copied from the Exome Variant Server GRIA3_000093 944/4387 598/2841 346/1546 - - - - - - -
?/? c.2077-12502_2077-12501insAA r.(=) p.(=) g.122586214_122586215insAA Copied from the Exome Variant Server GRIA3_000097 216/4387 46/2841 170/1546 - - - - - - -
?/? c.2077-11216_2077-11215del r.(=) p.(=) g.122587500_122587501del Copied from the Exome Variant Server GRIA3_000098 194/5924 128/3702 66/2222 - - - - - - -
?/? c.2077-11210_2077-11208del r.(=) p.(=) g.122587506_122587508del Copied from the Exome Variant Server GRIA3_000099 12/5780 6/3621 6/2159 - - - - - - -
?/? c.2077-11145A>G r.(=) p.(=) g.122587571A>G Copied from the Exome Variant Server GRIA3_000100 1859/3600 1186/2391 673/1209 - - - - - - -
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