Unique variants in gene PAX6

Information The variants shown are described using the NM_001604.4 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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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.-39G>A r.(=) p.(=) g.31827998C>T Copied from the Exome Variant Server PAX6_000066 1/12992 0/8590 1/4402
1 c.-25C>T r.(=) p.(=) g.31827984G>A Copied from the Exome Variant Server PAX6_000065 1/13000 1/8596 0/4404
1 c.-12G>A r.(=) p.(=) g.31827971C>T Copied from the Exome Variant Server PAX6_000064 1/13002 1/8598 0/4404
1 c.10+36G>A r.(=) p.(=) g.31827914C>T Copied from the Exome Variant Server PAX6_000063 1/12974 1/8584 0/4390
1 c.10+49C>T r.(=) p.(=) g.31827901G>A Copied from the Exome Variant Server PAX6_000062 1/12954 1/8574 0/4380
1 c.11-41T>C r.(=) p.(=) g.31824423A>G Copied from the Exome Variant Server PAX6_000061 517/13002 7/8598 510/4404
1 c.130C>A r.(=) p.(=) g.31824263G>T Copied from the Exome Variant Server PAX6_000060 22/13000 1/8596 21/4404
1 c.141+3G>A r.spl? p.? g.31824249C>T Copied from the Exome Variant Server PAX6_000059 1/13000 0/8596 1/4404
1 c.141+37C>A r.(=) p.(=) g.31824215G>T Copied from the Exome Variant Server PAX6_000058 1/12758 1/8442 0/4316
1 c.141+42_141+43insC r.(=) p.(=) g.31824209_31824210insG Copied from the Exome Variant Server PAX6_000057 12/11952 3/7912 9/4040
1 c.142-76T>C r.(=) p.(=) g.31823536A>G Copied from the Exome Variant Server PAX6_000056 1/4560 0/3176 1/1384
1 c.142-52del r.(=) p.(=) g.31823512del Copied from the Exome Variant Server PAX6_000055 633/12502 11/8246 622/4256
1 c.173A>G r.(?) p.(Asp58Gly) g.31823429T>C Copied from the Exome Variant Server PAX6_000054 1/13002 1/8598 0/4404
1 c.289G>A r.(?) p.(Val97Ile) g.31823219C>T Copied from the Exome Variant Server PAX6_000053 1/13002 1/8598 0/4404
1 c.369G>A r.(=) p.(=) g.31823139C>T Copied from the Exome Variant Server PAX6_000052 138/13002 0/8598 138/4404
1 c.399+9A>T r.(=) p.(=) g.31823100T>A Copied from the Exome Variant Server PAX6_000051 2/13002 0/8598 2/4404
1 c.399+25C>T r.(=) p.(=) g.31823084G>A Copied from the Exome Variant Server PAX6_000050 2/13002 2/8598 0/4404
1 c.399+38G>A r.(=) p.(=) g.31823071C>T Copied from the Exome Variant Server PAX6_000049 66/13002 1/8598 65/4404
1 c.399+43A>G r.(=) p.(=) g.31823066T>C Copied from the Exome Variant Server PAX6_000048 1/13002 1/8598 0/4404
1 c.435T>C r.(=) p.(=) g.31822369A>G Copied from the Exome Variant Server PAX6_000047 1/13002 1/8598 0/4404
1 c.438C>T r.(=) p.(=) g.31822366G>A Copied from the Exome Variant Server PAX6_000046 1/13002 0/8598 1/4404
1 c.453G>A r.(?) p.(Met151Ile) g.31822351C>T Copied from the Exome Variant Server PAX6_000045 1/13002 1/8598 0/4404
1 c.465C>G r.(=) p.(=) g.31822339G>C Copied from the Exome Variant Server PAX6_000044 1/13002 1/8598 0/4404
1 c.537G>C r.(=) p.(=) g.31822267C>G Copied from the Exome Variant Server PAX6_000043 1/13002 1/8598 0/4404
1 c.538A>T r.(?) p.(Thr180Ser) g.31822266T>A Copied from the Exome Variant Server PAX6_000042 1/13002 1/8598 0/4404
1 c.542C>T r.(?) p.(Ser181Leu) g.31822262G>A Copied from the Exome Variant Server PAX6_000040 1/13002 0/8598 1/4404
1 c.565+24G>C r.(=) p.(=) g.31822215C>G Copied from the Exome Variant Server PAX6_000038 1/13002 1/8598 0/4404
1 c.565+29T>C r.(=) p.(=) g.31822210A>G Copied from the Exome Variant Server PAX6_000036 1/13002 1/8598 0/4404
1 c.565+51C>A r.(=) p.(=) g.31822188G>T Copied from the Exome Variant Server PAX6_000041 1/13002 0/8598 1/4404
1 c.565+52C>T r.(=) p.(=) g.31822187G>A Copied from the Exome Variant Server PAX6_000039 1/5730 1/3980 0/1750
1 c.566-23C>A r.(=) p.(=) g.31816359G>T Copied from the Exome Variant Server PAX6_000037 1/12994 1/8590 0/4404
1 c.566-22C>T r.(=) p.(=) g.31816358G>A Copied from the Exome Variant Server PAX6_000035 1/13000 1/8596 0/4404
1 c.622G>A r.(?) p.(Gly208Arg) g.31816280C>T Copied from the Exome Variant Server PAX6_000034 1/13002 0/8598 1/4404
1 c.725-55T>C r.(=) p.(=) g.31815717A>G Copied from the Exome Variant Server PAX6_000033 3/4566 3/3182 0/1384
1 c.725-27A>T r.(=) p.(=) g.31815689T>A Copied from the Exome Variant Server PAX6_000032 1/13002 0/8598 1/4404
1 c.725-19A>C r.(=) p.(=) g.31815681T>G Copied from the Exome Variant Server PAX6_000031 1/13002 0/8598 1/4404
1 c.753G>A r.(=) p.(=) g.31815634C>T Copied from the Exome Variant Server PAX6_000030 4/13002 4/8598 0/4404
1 c.807+5C>T r.spl? p.? g.31815575G>A Copied from the Exome Variant Server PAX6_000029 5/13002 3/8598 2/4404
1 c.807+6G>A r.(=) p.(=) g.31815574C>T Copied from the Exome Variant Server PAX6_000028 1/13002 1/8598 0/4404
1 c.807+30T>C r.(=) p.(=) g.31815550A>G Copied from the Exome Variant Server PAX6_000027 1/13002 1/8598 0/4404
1 c.807+32T>A r.(=) p.(=) g.31815548A>T Copied from the Exome Variant Server PAX6_000026 1/13002 1/8598 0/4404
1 c.808-47T>A r.(=) p.(=) g.31815397A>T Copied from the Exome Variant Server PAX6_000025 1/13002 1/8598 0/4404
1 c.808-43C>T r.(=) p.(=) g.31815393G>A Copied from the Exome Variant Server PAX6_000024 38/13002 0/8598 38/4404
1 c.808-41C>T r.(=) p.(=) g.31815391G>A Copied from the Exome Variant Server PAX6_000023 1/13002 0/8598 1/4404
1 c.808-37G>A r.(=) p.(=) g.31815387C>T Copied from the Exome Variant Server PAX6_000022 7/13002 0/8598 7/4404
1 c.808-27T>C r.(=) p.(=) g.31815377A>G Copied from the Exome Variant Server PAX6_000021 1/13002 1/8598 0/4404
1 c.808-12C>T r.(=) p.(=) g.31815362G>A Copied from the Exome Variant Server PAX6_000020 597/13002 452/8598 145/4404
1 c.873G>A r.(=) p.(=) g.31815285C>T Copied from the Exome Variant Server PAX6_000019 18/13002 17/8598 1/4404
1 c.957G>A r.(=) p.(=) g.31815201C>T Copied from the Exome Variant Server PAX6_000018 5/13002 0/8598 5/4404
1 c.958+18T>G r.(=) p.(=) g.31815182A>C Copied from the Exome Variant Server PAX6_000017 1/13002 0/8598 1/4404
1 c.958+33T>A r.(=) p.(=) g.31815167A>T Copied from the Exome Variant Server PAX6_000016 444/13002 5/8598 439/4404
1 c.959-35C>G r.(=) p.(=) g.31815136G>C Copied from the Exome Variant Server PAX6_000015 4/13002 0/8598 4/4404
1 c.978C>T r.(=) p.(=) g.31815082G>A Copied from the Exome Variant Server PAX6_000014 4/13002 0/8598 4/4404
1 c.985T>C r.(=) p.(=) g.31815075A>G Copied from the Exome Variant Server PAX6_000013 5/13002 5/8598 0/4404
1 c.1017C>T r.(=) p.(=) g.31815043G>A Copied from the Exome Variant Server PAX6_000012 1/13002 0/8598 1/4404
1 c.1023C>T r.(=) p.(=) g.31815037G>A Copied from the Exome Variant Server PAX6_000011 1/13002 1/8598 0/4404
1 c.1032G>A r.(=) p.(=) g.31815028C>T Copied from the Exome Variant Server PAX6_000010 8/13002 0/8598 8/4404
1 c.1074+9G>A r.(=) p.(=) g.31814977C>T Copied from the Exome Variant Server PAX6_000009 1/13002 1/8598 0/4404
1 c.1099T>G r.(?) p.(Ser367Ala) g.31812384A>C Copied from the Exome Variant Server PAX6_000008 1/13002 1/8598 0/4404
1 c.1131G>A r.(=) p.(=) g.31812352C>T Copied from the Exome Variant Server PAX6_000007 1/13002 0/8598 1/4404
1 c.1179A>C r.(=) p.(=) g.31812304T>G Copied from the Exome Variant Server PAX6_000006 12/13002 11/8598 1/4404
1 c.1225+43T>G r.(=) p.(=) g.31812215A>C Copied from the Exome Variant Server PAX6_000005 5812/13002 4402/8598 1410/4404
1 c.1226-42A>G r.(=) p.(=) g.31811609T>C Copied from the Exome Variant Server PAX6_000004 2/13002 0/8598 2/4404
1 c.1242T>G r.(=) p.(=) g.31811551A>C Copied from the Exome Variant Server PAX6_000003 1/13002 1/8598 0/4404
1 c.1266C>T r.(=) p.(=) g.31811527G>A Copied from the Exome Variant Server PAX6_000002 1/13002 1/8598 0/4404
1 c.*37del r.(=) p.(=) g.31811445del Copied from the Exome Variant Server PAX6_000001 1/12412 1/8210 0/4202
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