All transcript variants in gene HYAL4

Information The variants shown are described using the NM_012269.2 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-19G>A r.(=) p.(=) g.123508309G>A Copied from the Exome Variant Server HYAL4_000001 2292/13002 1467/8598 825/4404
?/? c.-14A>C r.(=) p.(=) g.123508314A>C Copied from the Exome Variant Server HYAL4_000002 1/13002 0/8598 1/4404
?/? c.1A>G r.? p.? g.123508328A>G Copied from the Exome Variant Server HYAL4_000003 266/13000 234/8596 32/4404
?/? c.22C>T r.(?) p.(Gln8*) g.123508349C>T Copied from the Exome Variant Server HYAL4_000004 1/13004 0/8600 1/4404
?/? c.34T>C r.(?) p.(Cys12Arg) g.123508361T>C Copied from the Exome Variant Server HYAL4_000005 22/13004 0/8600 22/4404
?/? c.37G>A r.(?) p.(Val13Ile) g.123508364G>A Copied from the Exome Variant Server HYAL4_000006 1/13004 1/8600 0/4404
?/? c.46C>T r.(?) p.(Pro16Ser) g.123508373C>T Copied from the Exome Variant Server HYAL4_000007 1/13004 0/8600 1/4404
?/? c.70C>T r.(?) p.(Leu24Phe) g.123508397C>T Copied from the Exome Variant Server HYAL4_000008 1/13004 0/8600 1/4404
?/? c.73A>G r.(?) p.(Ile25Val) g.123508400A>G Copied from the Exome Variant Server HYAL4_000009 2/13004 0/8600 2/4404
?/? c.75_76insT r.(?) p.(Ile28Tyrfs*37) g.123508402_123508403insT Copied from the Exome Variant Server HYAL4_000010 4/12514 4/8252 0/4262
?/? c.144T>C r.(=) p.(=) g.123508471T>C Copied from the Exome Variant Server HYAL4_000011 1/13006 0/8600 1/4406
?/? c.181A>T r.(?) p.(Ile61Leu) g.123508508A>T Copied from the Exome Variant Server HYAL4_000012 1/13004 0/8598 1/4406
?/? c.213G>A r.(?) p.(Met71Ile) g.123508540G>A Copied from the Exome Variant Server HYAL4_000013 1/13000 0/8598 1/4402
?/? c.230_243del r.(?) p.(Pro78Glnfs*27) g.123508557_123508570del Copied from the Exome Variant Server HYAL4_000014 5/12508 3/8250 2/4258
?/? c.248G>A r.(?) p.(Arg83Lys) g.123508575G>A Copied from the Exome Variant Server HYAL4_000015 4/13006 4/8600 0/4406
?/? c.257A>G r.(?) p.(Asn86Ser) g.123508584A>G Copied from the Exome Variant Server HYAL4_000016 1/13006 0/8600 1/4406
?/? c.296C>T r.(?) p.(Pro99Leu) g.123508623C>T Copied from the Exome Variant Server HYAL4_000017 1/13006 1/8600 0/4406
?/? c.309A>T r.(=) p.(=) g.123508636A>T Copied from the Exome Variant Server HYAL4_000018 52/13006 49/8600 3/4406
?/? c.317del r.(?) p.(Val106Alafs*11) g.123508644del Copied from the Exome Variant Server HYAL4_000019 3/12516 0/8252 3/4264
?/? c.336C>T r.(=) p.(=) g.123508663C>T Copied from the Exome Variant Server HYAL4_000020 1/13006 0/8600 1/4406
?/? c.382G>T r.(?) p.(Asp128Tyr) g.123508709G>T Copied from the Exome Variant Server HYAL4_000021 1/13006 1/8600 0/4406
?/? c.448C>T r.(?) p.(Arg150*) g.123508775C>T Copied from the Exome Variant Server HYAL4_000022 1/13006 0/8600 1/4406
?/? c.449G>A r.(?) p.(Arg150Gln) g.123508776G>A Copied from the Exome Variant Server HYAL4_000023 1/13006 1/8600 0/4406
?/? c.478A>T r.(?) p.(Lys160*) g.123508805A>T Copied from the Exome Variant Server HYAL4_000025 1/13000 1/8596 0/4404
?/? c.518A>G r.(?) p.(Asp173Gly) g.123508845A>G Copied from the Exome Variant Server HYAL4_000027 9/13004 1/8598 8/4406
?/? c.609C>A r.(=) p.(=) g.123508936C>A Copied from the Exome Variant Server HYAL4_000024 1/13006 1/8600 0/4406
?/? c.628C>T r.(?) p.(Arg210*) g.123508955C>T Copied from the Exome Variant Server HYAL4_000026 6/13006 6/8600 0/4406
?/? c.629G>A r.(?) p.(Arg210Gln) g.123508956G>A Copied from the Exome Variant Server HYAL4_000028 1/13006 1/8600 0/4406
?/? c.658T>C r.(?) p.(Tyr220His) g.123508985T>C Copied from the Exome Variant Server HYAL4_000029 2/13006 2/8600 0/4406
?/? c.684T>G r.(=) p.(=) g.123509011T>G Copied from the Exome Variant Server HYAL4_000030 1/13006 1/8600 0/4406
?/? c.759C>T r.(=) p.(=) g.123509086C>T Copied from the Exome Variant Server HYAL4_000031 2/13006 2/8600 0/4406
?/? c.767C>T r.(?) p.(Ala256Val) g.123509094C>T Copied from the Exome Variant Server HYAL4_000032 1/13006 1/8600 0/4406
?/? c.784A>G r.(?) p.(Ile262Val) g.123509111A>G Copied from the Exome Variant Server HYAL4_000033 1/13006 1/8600 0/4406
?/? c.786C>T r.(=) p.(=) g.123509113C>T Copied from the Exome Variant Server HYAL4_000034 3/13006 2/8600 1/4406
?/? c.787G>C r.(?) p.(Gly263Arg) g.123509114G>C Copied from the Exome Variant Server HYAL4_000035 1/13006 1/8600 0/4406
?/? c.840T>C r.(=) p.(=) g.123509167T>C Copied from the Exome Variant Server HYAL4_000036 35/13006 0/8600 35/4406
?/? c.843G>A r.(=) p.(=) g.123509170G>A Copied from the Exome Variant Server HYAL4_000037 9/13006 7/8600 2/4406
?/? c.848A>G r.(?) p.(His283Arg) g.123509175A>G Copied from the Exome Variant Server HYAL4_000038 1/13006 0/8600 1/4406
?/? c.880C>T r.(?) p.(His294Tyr) g.123509207C>T Copied from the Exome Variant Server HYAL4_000039 1/13006 1/8600 0/4406
?/? c.898G>T r.(?) p.(Val300Leu) g.123509225G>T Copied from the Exome Variant Server HYAL4_000040 2/13006 2/8600 0/4406
?/? c.954+44T>G r.(=) p.(=) g.123509325T>G Copied from the Exome Variant Server HYAL4_000041 1/12954 0/8574 1/4380
?/? c.976G>A r.(?) p.(Gly326Arg) g.123514836G>A Copied from the Exome Variant Server HYAL4_000042 1/13006 0/8600 1/4406
?/? c.1036G>T r.(?) p.(Ala346Ser) g.123514896G>T Copied from the Exome Variant Server HYAL4_000043 2124/13006 1464/8600 660/4406
?/? c.1044+28A>G r.(=) p.(=) g.123514932A>G Copied from the Exome Variant Server HYAL4_000044 1/13006 0/8600 1/4406
?/? c.1044+39T>C r.(=) p.(=) g.123514943T>C Copied from the Exome Variant Server HYAL4_000045 1/13006 1/8600 0/4406
?/? c.1047C>T r.(=) p.(=) g.123516810C>T Copied from the Exome Variant Server HYAL4_000046 1/13006 1/8600 0/4406
?/? c.1137C>G r.(?) p.(His379Gln) g.123516900C>G Copied from the Exome Variant Server HYAL4_000047 1/13006 0/8600 1/4406
?/? c.1153del r.(?) p.(Gly385Alafs*4) g.123516916del Copied from the Exome Variant Server HYAL4_000048 1/12518 0/8254 1/4264
?/? c.1161C>T r.(=) p.(=) g.123516924C>T Copied from the Exome Variant Server HYAL4_000049 15/13006 15/8600 0/4406
?/? c.1162A>G r.(?) p.(Ile388Val) g.123516925A>G Copied from the Exome Variant Server HYAL4_000050 1/13006 0/8600 1/4406
?/? c.1180G>A r.(?) p.(Ala394Thr) g.123516943G>A Copied from the Exome Variant Server HYAL4_000051 56/13006 51/8600 5/4406
?/? c.1181C>T r.(?) p.(Ala394Val) g.123516944C>T Copied from the Exome Variant Server HYAL4_000052 2/13006 1/8600 1/4406
?/? c.1182G>A r.(=) p.(=) g.123516945G>A Copied from the Exome Variant Server HYAL4_000053 5/13006 0/8600 5/4406
?/? c.1184C>T r.(?) p.(Pro395Leu) g.123516947C>T Copied from the Exome Variant Server HYAL4_000054 7/13006 6/8600 1/4406
?/? c.1195C>G r.(?) p.(His399Asp) g.123516958C>G Copied from the Exome Variant Server HYAL4_000055 1/13006 1/8600 0/4406
?/? c.1198T>G r.(?) p.(Leu400Val) g.123516961T>G Copied from the Exome Variant Server HYAL4_000056 61/13006 60/8600 1/4406
?/? c.1203C>T r.(=) p.(=) g.123516966C>T Copied from the Exome Variant Server HYAL4_000057 2/13006 2/8600 0/4406
?/? c.1210A>G r.(?) p.(Ser404Gly) g.123516973A>G Copied from the Exome Variant Server HYAL4_000058 25/13006 24/8600 1/4406
?/? c.1227C>T r.(=) p.(=) g.123516990C>T Copied from the Exome Variant Server HYAL4_000059 1/13006 1/8600 0/4406
?/? c.1233G>A r.(=) p.(=) g.123516996G>A Copied from the Exome Variant Server HYAL4_000060 1/13006 1/8600 0/4406
?/? c.1236_1237del r.(?) p.(Asp412Glufs*11) g.123516999_123517000del Copied from the Exome Variant Server HYAL4_000061 1/12518 1/8254 0/4264
?/? c.1337G>A r.(?) p.(Cys446Tyr) g.123517100G>A Copied from the Exome Variant Server HYAL4_000062 2/13006 2/8600 0/4406
?/? c.1430G>A r.(?) p.(Arg477Gln) g.123517193G>A Copied from the Exome Variant Server HYAL4_000063 35/13006 31/8600 4/4406
?/? c.*41G>C r.(=) p.(=) g.123517250G>C Copied from the Exome Variant Server HYAL4_000064 2/13006 2/8600 0/4406
Legend