Unique variants in gene GNAQ

Information The variants shown are described using the NM_002072.3 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-49C>T r.(=) p.(=) g.80646200G>A Copied from the Exome Variant Server GNAQ_000051 4/12324 0/8200 4/4124
1 c.-41A>G r.(=) p.(=) g.80646192T>C Copied from the Exome Variant Server GNAQ_000050 2/12296 2/8188 0/4108
1 c.-38G>C r.(=) p.(=) g.80646189C>G Copied from the Exome Variant Server GNAQ_000049 1/12306 0/8184 1/4122
1 c.-32C>T r.(=) p.(=) g.80646183G>A Copied from the Exome Variant Server GNAQ_000048 1/12282 0/8176 1/4106
1 c.162G>A r.(=) p.(=) g.80537236C>T Copied from the Exome Variant Server GNAQ_000047 24/13006 0/8600 24/4406
1 c.168C>T r.(=) p.(=) g.80537230G>A Copied from the Exome Variant Server GNAQ_000046 1/13006 0/8600 1/4406
1 c.291C>T r.(=) p.(=) g.80537107G>A Copied from the Exome Variant Server GNAQ_000045 1/13006 0/8600 1/4406
1 c.321+7G>A r.(=) p.(=) g.80537070C>T Copied from the Exome Variant Server GNAQ_000044 1/13006 1/8600 0/4406
1 c.321+36T>C r.(=) p.(=) g.80537041A>G Copied from the Exome Variant Server GNAQ_000043 7/13006 7/8600 0/4406
1 c.322-38_322-37insT r.(=) p.(=) g.80430723_80430724insA Copied from the Exome Variant Server GNAQ_000041 1/12508 0/8252 1/4256
1 c.322-13T>C r.(=) p.(=) g.80430699A>G Copied from the Exome Variant Server GNAQ_000039 1/13006 0/8600 1/4406
1 c.323C>T r.(?) p.(Ala108Val) g.80430685G>A Copied from the Exome Variant Server GNAQ_000038 1/13006 0/8600 1/4406
1 c.350A>G r.(?) p.(Asp117Gly) g.80430658T>C Copied from the Exome Variant Server GNAQ_000037 1/13006 0/8600 1/4406
1 c.381A>G r.(=) p.(=) g.80430627T>C Copied from the Exome Variant Server GNAQ_000036 1/13006 0/8600 1/4406
1 c.456A>G r.(=) p.(=) g.80430552T>C Copied from the Exome Variant Server GNAQ_000035 2/13006 2/8600 0/4406
1 c.476+21C>A r.(=) p.(=) g.80430511G>T Copied from the Exome Variant Server GNAQ_000034 6/13006 0/8600 6/4406
1 c.476+25A>G r.(=) p.(=) g.80430507T>C Copied from the Exome Variant Server GNAQ_000033 1/13006 0/8600 1/4406
1 c.476+32T>C r.(=) p.(=) g.80430500A>G Copied from the Exome Variant Server GNAQ_000032 1/13006 0/8600 1/4406
1 c.476+43T>C r.(=) p.(=) g.80430489A>G Copied from the Exome Variant Server GNAQ_000031 6/13004 6/8598 0/4406
1 c.477-39G>A r.(=) p.(=) g.80412603C>T Copied from the Exome Variant Server GNAQ_000030 180/13006 14/8600 166/4406
1 c.477-35T>G r.(=) p.(=) g.80412599A>C Copied from the Exome Variant Server GNAQ_000029 1/13006 0/8600 1/4406
1 c.605+22C>T r.(=) p.(=) g.80412414G>A Copied from the Exome Variant Server GNAQ_000028 6/13006 0/8600 6/4406
1 c.605+24T>C r.(=) p.(=) g.80412412A>G Copied from the Exome Variant Server GNAQ_000027 2/13006 0/8600 2/4406
1 c.605+25A>G r.(=) p.(=) g.80412411T>C Copied from the Exome Variant Server GNAQ_000026 1/13006 0/8600 1/4406
1 c.621G>A r.(=) p.(=) g.80409493C>T Copied from the Exome Variant Server GNAQ_000025 1/13006 1/8600 0/4406
1 c.687A>G r.(=) p.(=) g.80409427T>C Copied from the Exome Variant Server GNAQ_000024 1/13006 1/8600 0/4406
1 c.735+9T>C r.(=) p.(=) g.80409370A>G Copied from the Exome Variant Server GNAQ_000023 1/13006 1/8600 0/4406
1 c.735+23A>G r.(=) p.(=) g.80409356T>C Copied from the Exome Variant Server GNAQ_000022 1/13004 0/8600 1/4404
1 c.735+34T>C r.(=) p.(=) g.80409345A>G Copied from the Exome Variant Server GNAQ_000021 5717/13004 5014/8600 703/4404
1 c.736-6del r.(=) p.(=) g.80343589del Copied from the Exome Variant Server GNAQ_000020 985/12516 368/8252 617/4264
1 c.736-6dup r.(=) p.(=) g.80343589dup Copied from the Exome Variant Server GNAQ_000019 5401/12516 3867/8252 1534/4264
1 c.736-6_736-5del N/A N/A g.80343588_80343589del Copied from the Exome Variant Server GNAQ_000042 45/12516 20/8252 25/4264
1 c.736-6_736-5dup N/A N/A g.80343588_80343589dup Copied from the Exome Variant Server GNAQ_000040 314/12516 234/8252 80/4264
1 c.765T>C r.(=) p.(=) g.80343554A>G Copied from the Exome Variant Server GNAQ_000018 9/13006 4/8600 5/4406
1 c.775A>G r.(?) p.(Ile259Val) g.80343544T>C Copied from the Exome Variant Server GNAQ_000017 1/13006 0/8600 1/4406
1 c.795G>C r.(?) p.(Gln265His) g.80343524C>G Copied from the Exome Variant Server GNAQ_000016 1/13006 1/8600 0/4406
1 c.804G>A r.(=) p.(=) g.80343515C>T Copied from the Exome Variant Server GNAQ_000015 3/13006 3/8600 0/4406
1 c.889+51C>G r.(=) p.(=) g.80343379G>C Copied from the Exome Variant Server GNAQ_000014 1/13006 1/8600 0/4406
1 c.890-46T>C r.(=) p.(=) g.80336475A>G Copied from the Exome Variant Server GNAQ_000013 46/13006 1/8600 45/4406
1 c.890-38T>G r.(=) p.(=) g.80336467A>C Copied from the Exome Variant Server GNAQ_000012 4/13006 4/8600 0/4406
1 c.890-28_890-27insAA r.(=) p.(=) g.80336456_80336457insTT Copied from the Exome Variant Server GNAQ_000011 2/12518 2/8254 0/4264
1 c.897G>C r.(?) p.(Gln299His) g.80336422C>G Copied from the Exome Variant Server GNAQ_000010 1/13006 0/8600 1/4406
1 c.910G>C r.(?) p.(Ala304Pro) g.80336409C>G Copied from the Exome Variant Server GNAQ_000009 1/13006 1/8600 0/4406
1 c.924C>T r.(=) p.(=) g.80336395G>A Copied from the Exome Variant Server GNAQ_000008 2/13006 1/8600 1/4406
1 c.934A>G r.(?) p.(Met312Val) g.80336385T>C Copied from the Exome Variant Server GNAQ_000007 1/13006 1/8600 0/4406
1 c.1002C>T r.(=) p.(=) g.80336317G>A Copied from the Exome Variant Server GNAQ_000006 1/13006 1/8600 0/4406
1 c.1017T>C r.(=) p.(=) g.80336302A>G Copied from the Exome Variant Server GNAQ_000005 4/13006 4/8600 0/4406
1 c.1029C>T r.(=) p.(=) g.80336290G>A Copied from the Exome Variant Server GNAQ_000004 1/13006 1/8600 0/4406
1 c.*20G>A r.(=) p.(=) g.80336219C>T Copied from the Exome Variant Server GNAQ_000003 1/13006 0/8600 1/4406
1 c.*34T>A r.(=) p.(=) g.80336205A>T Copied from the Exome Variant Server GNAQ_000002 1/13006 1/8600 0/4406
1 c.*44T>C r.(=) p.(=) g.80336195A>G Copied from the Exome Variant Server GNAQ_000001 8/13006 4/8600 4/4406
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