All transcript variants in gene GABRQ

Information The variants shown are described using the NM_018558.2 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.105G>T r.(?) p.(Glu35Asp) g.151806761G>T Copied from the Exome Variant Server GABRQ_000044 1/10563 1/6728 0/3835
?/? c.146A>G r.(?) p.(Asn49Ser) g.151806802A>G Copied from the Exome Variant Server GABRQ_000045 4/10563 0/6728 4/3835
?/? c.149+13C>T r.(=) p.(=) g.151806818C>T Copied from the Exome Variant Server GABRQ_000046 1/10563 1/6728 0/3835
?/? c.150-30C>T r.(=) p.(=) g.151808809C>T Copied from the Exome Variant Server GABRQ_000047 5/10563 0/6728 5/3835
?/? c.239-42T>G r.(=) p.(=) g.151813946T>G Copied from the Exome Variant Server GABRQ_000048 1/10563 1/6728 0/3835
?/? c.239-28C>T r.(=) p.(=) g.151813960C>T Copied from the Exome Variant Server GABRQ_000049 3/10563 3/6728 0/3835
?/? c.306+53C>T r.(=) p.(=) g.151814108C>T Copied from the Exome Variant Server GABRQ_000050 6/3600 6/2391 0/1209
?/? c.307-47C>T r.(=) p.(=) g.151815362C>T Copied from the Exome Variant Server GABRQ_000051 5/10563 0/6728 5/3835
?/? c.307-32C>G r.(=) p.(=) g.151815377C>G Copied from the Exome Variant Server GABRQ_000052 1/10563 0/6728 1/3835
?/? c.326T>G r.(?) p.(Phe109Cys) g.151815428T>G Copied from the Exome Variant Server GABRQ_000053 1/10563 1/6728 0/3835
?/? c.357A>C r.(?) p.(Leu119Phe) g.151815459A>C Copied from the Exome Variant Server GABRQ_000054 1/10563 1/6728 0/3835
?/? c.365A>G r.(?) p.(Tyr122Cys) g.151815467A>G Copied from the Exome Variant Server GABRQ_000055 1/10563 0/6728 1/3835
?/? c.421C>T r.(?) p.(Pro141Ser) g.151815523C>T Copied from the Exome Variant Server GABRQ_000056 1/10563 1/6728 0/3835
?/? c.527+7C>T r.(=) p.(=) g.151815636C>T Copied from the Exome Variant Server GABRQ_000057 2/10563 0/6728 2/3835
?/? c.527+29C>T r.(=) p.(=) g.151815658C>T Copied from the Exome Variant Server GABRQ_000058 1/10563 1/6728 0/3835
?/? c.574A>G r.(?) p.(Met192Val) g.151817760A>G Copied from the Exome Variant Server GABRQ_000059 1/10563 0/6728 1/3835
?/? c.582G>A r.(=) p.(=) g.151817768G>A Copied from the Exome Variant Server GABRQ_000060 1/10563 0/6728 1/3835
?/? c.602T>C r.(?) p.(Val201Ala) g.151817788T>C Copied from the Exome Variant Server GABRQ_000061 1/10563 0/6728 1/3835
?/? c.610+5G>A r.spl? p.? g.151817801G>A Copied from the Exome Variant Server GABRQ_000062 1/10563 1/6728 0/3835
?/? c.610+24C>T r.(=) p.(=) g.151817820C>T Copied from the Exome Variant Server GABRQ_000001 3346/10563 2473/6728 873/3835
?/? c.610+30C>T r.(=) p.(=) g.151817826C>T Copied from the Exome Variant Server GABRQ_000002 1/10563 1/6728 0/3835
?/? c.610+31G>A r.(=) p.(=) g.151817827G>A Copied from the Exome Variant Server GABRQ_000003 56/10563 0/6728 56/3835
?/? c.610+33A>G r.(=) p.(=) g.151817829A>G Copied from the Exome Variant Server GABRQ_000004 1/10563 1/6728 0/3835
?/? c.632T>C r.(?) p.(Ile211Thr) g.151818226T>C Copied from the Exome Variant Server GABRQ_000005 1/10563 1/6728 0/3835
?/? c.705C>T r.(=) p.(=) g.151818299C>T Copied from the Exome Variant Server GABRQ_000006 1/10563 1/6728 0/3835
?/? c.717G>A r.(=) p.(=) g.151818311G>A Copied from the Exome Variant Server GABRQ_000007 1/10563 1/6728 0/3835
?/? c.729G>A r.(=) p.(=) g.151818323G>A Copied from the Exome Variant Server GABRQ_000008 1/10563 0/6728 1/3835
?/? c.748+9G>A r.(=) p.(=) g.151818351G>A Copied from the Exome Variant Server GABRQ_000009 1/10563 1/6728 0/3835
?/? c.748+29T>A r.(=) p.(=) g.151818371T>A Copied from the Exome Variant Server GABRQ_000010 3/10563 3/6728 0/3835
?/? c.748+52A>G r.(=) p.(=) g.151818394A>G Copied from the Exome Variant Server GABRQ_000011 1/6038 0/3621 1/2417
?/? c.749-51G>A r.(=) p.(=) g.151818840G>A Copied from the Exome Variant Server GABRQ_000012 47/10563 41/6728 6/3835
?/? c.749-44C>T r.(=) p.(=) g.151818847C>T Copied from the Exome Variant Server GABRQ_000013 1/10563 0/6728 1/3835
?/? c.749-30C>T r.(=) p.(=) g.151818861C>T Copied from the Exome Variant Server GABRQ_000014 2/10563 2/6728 0/3835
?/? c.760C>T r.(?) p.(Arg254Cys) g.151818902C>T Copied from the Exome Variant Server GABRQ_000015 1/10563 0/6728 1/3835
?/? c.902-24_902-23del r.(=) p.(=) g.151819965_151819966del Copied from the Exome Variant Server GABRQ_000016 1/10205 1/6484 0/3721
?/? c.902-5T>C r.spl? p.? g.151819984T>C Copied from the Exome Variant Server GABRQ_000017 12/10563 11/6728 1/3835
?/? c.933C>T r.(=) p.(=) g.151820020C>T Copied from the Exome Variant Server GABRQ_000018 2/10563 0/6728 2/3835
?/? c.946C>T r.(?) p.(Arg316Trp) g.151820033C>T Copied from the Exome Variant Server GABRQ_000019 1/10563 1/6728 0/3835
?/? c.969C>T r.(=) p.(=) g.151820056C>T Copied from the Exome Variant Server GABRQ_000020 389/10563 3/6728 386/3835
?/? c.989T>C r.(?) p.(Ile330Thr) g.151820076T>C Copied from the Exome Variant Server GABRQ_000021 1/10563 1/6728 0/3835
?/? c.1079G>A r.(?) p.(Arg360His) g.151820166G>A Copied from the Exome Variant Server GABRQ_000022 1/10563 1/6728 0/3835
?/? c.1090C>T r.(?) p.(Arg364*) g.151820177C>T Copied from the Exome Variant Server GABRQ_000023 1/10563 1/6728 0/3835
?/? c.1105C>T r.(?) p.(Arg369*) g.151820192C>T Copied from the Exome Variant Server GABRQ_000024 1/10563 0/6728 1/3835
?/? c.1126C>T r.(?) p.(Arg376Cys) g.151820213C>T Copied from the Exome Variant Server GABRQ_000025 1/10563 1/6728 0/3835
?/? c.1127G>A r.(?) p.(Arg376His) g.151820214G>A Copied from the Exome Variant Server GABRQ_000063 3/10563 0/6728 3/3835
?/? c.1158+39C>T r.(=) p.(=) g.151820284C>T Copied from the Exome Variant Server GABRQ_000064 1/10563 1/6728 0/3835
?/? c.1240C>T r.(?) p.(Leu414Phe) g.151821085C>T Copied from the Exome Variant Server GABRQ_000065 1/10563 1/6728 0/3835
?/? c.1264G>A r.(?) p.(Glu422Lys) g.151821109G>A Copied from the Exome Variant Server GABRQ_000066 1/10563 0/6728 1/3835
?/? c.1319G>A r.(?) p.(Gly440Asp) g.151821164G>A Copied from the Exome Variant Server GABRQ_000067 1/10563 0/6728 1/3835
?/? c.1321C>A r.(?) p.(Gln441Lys) g.151821166C>A Copied from the Exome Variant Server GABRQ_000068 1/10563 0/6728 1/3835
?/? c.1330C>T r.(=) p.(=) g.151821175C>T Copied from the Exome Variant Server GABRQ_000042 2/10563 0/6728 2/3835
?/? c.1353C>G r.(?) p.(Ser451Arg) g.151821198C>G Copied from the Exome Variant Server GABRQ_000043 1/10563 0/6728 1/3835
?/? c.1357C>T r.(?) p.(Leu453Phe) g.151821202C>T Copied from the Exome Variant Server GABRQ_000038 1/10563 0/6728 1/3835
?/? c.1362C>T r.(=) p.(=) g.151821207C>T Copied from the Exome Variant Server GABRQ_000039 63/10563 43/6728 20/3835
?/? c.1399C>T r.(?) p.(Arg467Cys) g.151821244C>T Copied from the Exome Variant Server GABRQ_000040 1/10563 0/6728 1/3835
?/? c.1448G>A r.(?) p.(Arg483His) g.151821293G>A Copied from the Exome Variant Server GABRQ_000041 1/10563 1/6728 0/3835
?/? c.1454G>A r.(?) p.(Arg485His) g.151821299G>A Copied from the Exome Variant Server GABRQ_000026 2/10563 0/6728 2/3835
?/? c.1464C>T r.(=) p.(=) g.151821309C>T Copied from the Exome Variant Server GABRQ_000027 11/10563 9/6728 2/3835
?/? c.1482C>A r.(=) p.(=) g.151821327C>A Copied from the Exome Variant Server GABRQ_000028 1/10563 0/6728 1/3835
?/? c.1517C>T r.(?) p.(Ser506Leu) g.151821362C>T Copied from the Exome Variant Server GABRQ_000029 3/10563 3/6728 0/3835
?/? c.1518G>A r.(=) p.(=) g.151821363G>A Copied from the Exome Variant Server GABRQ_000030 2/10563 1/6728 1/3835
?/? c.1520A>T r.(?) p.(Asp507Val) g.151821365A>T Copied from the Exome Variant Server GABRQ_000031 1/10563 0/6728 1/3835
?/? c.1567G>A r.(?) p.(Gly523Ser) g.151821412G>A Copied from the Exome Variant Server GABRQ_000032 1/10563 1/6728 0/3835
?/? c.1610A>G r.(?) p.(Asn537Ser) g.151821455A>G Copied from the Exome Variant Server GABRQ_000033 1/10563 1/6728 0/3835
?/? c.1613A>G r.(?) p.(Asn538Ser) g.151821458A>G Copied from the Exome Variant Server GABRQ_000034 1/10563 1/6728 0/3835
?/? c.1661C>T r.(?) p.(Thr554Ile) g.151821506C>T Copied from the Exome Variant Server GABRQ_000035 1/10563 1/6728 0/3835
?/? c.*1_*2insC r.(=) p.(=) g.151821745_151821746insC Copied from the Exome Variant Server GABRQ_000036 2/10096 2/6427 0/3669
?/? c.*23G>A r.(=) p.(=) g.151821767G>A Copied from the Exome Variant Server GABRQ_000037 1/10386 1/6632 0/3754
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