All transcript variants in gene HOOK3

Information The variants shown are described using the NM_032410.3 transcript reference sequence.

117 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     
?/? c.-30G>A r.(=) p.(=) g.42752245G>A Copied from the Exome Variant Server HOOK3_000001 9/9774 9/6554 0/3220
?/? c.-15G>A r.(=) p.(=) g.42752260G>A Copied from the Exome Variant Server HOOK3_000002 1/10896 1/7264 0/3632
?/? c.57+30del r.(=) p.(=) g.42752361del Copied from the Exome Variant Server HOOK3_000003 288/9870 3/6556 285/3314
?/? c.57+31del r.(=) p.(=) g.42752362del Copied from the Exome Variant Server HOOK3_000004 329/9430 4/6260 325/3170
?/? c.58-29_58-28insT r.(=) p.(=) g.42761287_42761288insT Copied from the Exome Variant Server HOOK3_000005 441/12514 201/8250 240/4264
?/? c.58-27C>T r.(=) p.(=) g.42761289C>T Copied from the Exome Variant Server HOOK3_000006 52/13006 51/8600 1/4406
?/? c.58-25C>G r.(=) p.(=) g.42761291C>G Copied from the Exome Variant Server HOOK3_000007 2/13006 2/8600 0/4406
?/? c.58-23C>A r.(=) p.(=) g.42761293C>A Copied from the Exome Variant Server HOOK3_000008 2/13006 2/8600 0/4406
?/? c.58-22C>A r.(=) p.(=) g.42761294C>A Copied from the Exome Variant Server HOOK3_000009 2/13006 1/8600 1/4406
?/? c.58-21C>G r.(=) p.(=) g.42761295C>G Copied from the Exome Variant Server HOOK3_000010 3/13006 3/8600 0/4406
?/? c.58-20C>T r.(=) p.(=) g.42761296C>T Copied from the Exome Variant Server HOOK3_000011 6/13006 1/8600 5/4406
?/? c.58-19C>A r.(=) p.(=) g.42761297C>A Copied from the Exome Variant Server HOOK3_000012 1/13006 0/8600 1/4406
?/? c.58-9dup r.(=) p.(=) g.42761307dup Copied from the Exome Variant Server HOOK3_000013 22/12518 14/8254 8/4264
?/? c.58-9_58-8insC r.(=) p.(=) g.42761307_42761308insC Copied from the Exome Variant Server HOOK3_000014 277/12518 6/8254 271/4264
?/? c.73G>A r.(?) p.(Val25Met) g.42761331G>A Copied from the Exome Variant Server HOOK3_000015 1/13006 1/8600 0/4406
?/? c.93C>T r.(=) p.(=) g.42761351C>T Copied from the Exome Variant Server HOOK3_000016 1/13006 0/8600 1/4406
?/? c.94G>C r.(?) p.(Val32Leu) g.42761352G>C Copied from the Exome Variant Server HOOK3_000017 1/13006 0/8600 1/4406
?/? c.100G>A r.(?) p.(Asp34Asn) g.42761358G>A Copied from the Exome Variant Server HOOK3_000018 1/13006 1/8600 0/4406
?/? c.115G>T r.(?) p.(Val39Phe) g.42761373G>T Copied from the Exome Variant Server HOOK3_000019 1/13006 1/8600 0/4406
?/? c.143+11A>G r.(=) p.(=) g.42761412A>G Copied from the Exome Variant Server HOOK3_000020 1/13006 1/8600 0/4406
?/? c.143+30A>G r.(=) p.(=) g.42761431A>G Copied from the Exome Variant Server HOOK3_000021 1/13006 0/8600 1/4406
?/? c.144-33A>G r.(=) p.(=) g.42780667A>G Copied from the Exome Variant Server HOOK3_000022 1/12998 0/8592 1/4406
?/? c.144-21A>G r.(=) p.(=) g.42780679A>G Copied from the Exome Variant Server HOOK3_000023 1/13002 1/8596 0/4406
?/? c.154T>C r.(?) p.(Tyr52His) g.42780710T>C Copied from the Exome Variant Server HOOK3_000024 2/13002 1/8598 1/4404
?/? c.168T>G r.(?) p.(Asn56Lys) g.42780724T>G Copied from the Exome Variant Server HOOK3_000025 4/13006 4/8600 0/4406
?/? c.216+19del r.(=) p.(=) g.42780791del Copied from the Exome Variant Server HOOK3_000026 1/12516 1/8252 0/4264
?/? c.216+24A>C r.(=) p.(=) g.42780796A>C Copied from the Exome Variant Server HOOK3_000027 46/13004 43/8598 3/4406
?/? c.216+60_216+61insT r.(=) p.(=) g.42780832_42780833insT Copied from the Exome Variant Server HOOK3_000028 1580/12488 1406/8238 174/4250
?/? c.216+60_216+61insTT r.(=) p.(=) g.42780832_42780833insTT Copied from the Exome Variant Server HOOK3_000029 12/12488 10/8238 2/4250
?/? c.267+41C>A r.(=) p.(=) g.42785356C>A Copied from the Exome Variant Server HOOK3_000030 2/12904 2/8534 0/4370
?/? c.267+42G>A r.(=) p.(=) g.42785357G>A Copied from the Exome Variant Server HOOK3_000031 2/12896 2/8532 0/4364
?/? c.268-37A>C r.(=) p.(=) g.42798419A>C Copied from the Exome Variant Server HOOK3_000032 1/13006 1/8600 0/4406
?/? c.268-28C>A r.(=) p.(=) g.42798428C>A Copied from the Exome Variant Server HOOK3_000033 17/13006 0/8600 17/4406
?/? c.268-20A>T r.(=) p.(=) g.42798436A>T Copied from the Exome Variant Server HOOK3_000034 7/13006 7/8600 0/4406
?/? c.384C>T r.(=) p.(=) g.42798572C>T Copied from the Exome Variant Server HOOK3_000035 41/13006 39/8600 2/4406
?/? c.390A>G r.(=) p.(=) g.42798578A>G Copied from the Exome Variant Server HOOK3_000036 2/13006 0/8600 2/4406
?/? c.396G>A r.(=) p.(=) g.42798584G>A Copied from the Exome Variant Server HOOK3_000037 1/13006 1/8600 0/4406
?/? c.400+6T>C r.(=) p.(=) g.42798594T>C Copied from the Exome Variant Server HOOK3_000038 9/13006 9/8600 0/4406
?/? c.400+15G>C r.(=) p.(=) g.42798603G>C Copied from the Exome Variant Server HOOK3_000039 14/13006 14/8600 0/4406
?/? c.421A>T r.(?) p.(Met141Leu) g.42805551A>T Copied from the Exome Variant Server HOOK3_000040 1/13006 0/8600 1/4406
?/? c.468+23T>C r.(=) p.(=) g.42805621T>C Copied from the Exome Variant Server HOOK3_000041 6/13006 0/8600 6/4406
?/? c.468+51_468+53del r.(=) p.(=) g.42805649_42805651del Copied from the Exome Variant Server HOOK3_000042 7/12516 0/8252 7/4264
?/? c.527G>A r.(?) p.(Arg176His) g.42812295G>A Copied from the Exome Variant Server HOOK3_000043 1/13004 1/8598 0/4406
?/? c.532-44T>C r.(=) p.(=) g.42814330T>C Copied from the Exome Variant Server HOOK3_000044 1/13004 1/8600 0/4404
?/? c.616-18C>T r.(=) p.(=) g.42819436C>T Copied from the Exome Variant Server HOOK3_000045 1/13006 0/8600 1/4406
?/? c.616-17G>A r.(=) p.(=) g.42819437G>A Copied from the Exome Variant Server HOOK3_000046 1/13006 1/8600 0/4406
?/? c.664G>A r.(?) p.(Val222Ile) g.42819502G>A Copied from the Exome Variant Server HOOK3_000047 1/13006 0/8600 1/4406
?/? c.780-18A>G r.(=) p.(=) g.42821598A>G Copied from the Exome Variant Server HOOK3_000048 1/13006 0/8600 1/4406
?/? c.783A>G r.(=) p.(=) g.42821619A>G Copied from the Exome Variant Server HOOK3_000049 2/13006 0/8600 2/4406
?/? c.848G>A r.(?) p.(Arg283Gln) g.42821684G>A Copied from the Exome Variant Server HOOK3_000050 1/13006 1/8600 0/4406
?/? c.854A>G r.(?) p.(Gln285Arg) g.42821690A>G Copied from the Exome Variant Server HOOK3_000051 3/13006 3/8600 0/4406
?/? c.920+18A>G r.(=) p.(=) g.42821774A>G Copied from the Exome Variant Server HOOK3_000052 1/13006 1/8600 0/4406
?/? c.920+20C>T r.(=) p.(=) g.42821776C>T Copied from the Exome Variant Server HOOK3_000053 1/13006 1/8600 0/4406
?/? c.921-3T>C r.spl? p.? g.42823153T>C Copied from the Exome Variant Server HOOK3_000055 1/12990 1/8598 0/4392
?/? c.1053T>C r.(=) p.(=) g.42823288T>C Copied from the Exome Variant Server HOOK3_000057 1/13006 1/8600 0/4406
?/? c.1055T>A r.(?) p.(Val352Asp) g.42823290T>A Copied from the Exome Variant Server HOOK3_000059 1/13006 1/8600 0/4406
?/? c.1086C>T r.(=) p.(=) g.42823321C>T Copied from the Exome Variant Server HOOK3_000061 4/13006 1/8600 3/4406
?/? c.1087G>A r.(?) p.(Ala363Thr) g.42823322G>A Copied from the Exome Variant Server HOOK3_000054 2/13006 0/8600 2/4406
?/? c.1122+15G>T r.(=) p.(=) g.42823372G>T Copied from the Exome Variant Server HOOK3_000056 3/13006 2/8600 1/4406
?/? c.1122+52G>A r.(=) p.(=) g.42823409G>A Copied from the Exome Variant Server HOOK3_000058 59/7270 1/4618 58/2652
?/? c.1123-48T>A r.(=) p.(=) g.42828384T>A Copied from the Exome Variant Server HOOK3_000060 1/12954 0/8568 1/4386
?/? c.1123-5A>G r.spl? p.? g.42828427A>G Copied from the Exome Variant Server HOOK3_000062 11/12992 3/8590 8/4402
?/? c.1132C>A r.(?) p.(Leu378Ile) g.42828441C>A Copied from the Exome Variant Server HOOK3_000063 1/12998 1/8592 0/4406
?/? c.1149C>T r.(=) p.(=) g.42828458C>T Copied from the Exome Variant Server HOOK3_000064 1/12996 1/8592 0/4404
?/? c.1233+8T>C r.(=) p.(=) g.42828550T>C Copied from the Exome Variant Server HOOK3_000065 83/12996 2/8594 81/4402
?/? c.1233+36C>T r.(=) p.(=) g.42828578C>T Copied from the Exome Variant Server HOOK3_000066 1/12976 1/8584 0/4392
?/? c.1305G>A r.(=) p.(=) g.42829321G>A Copied from the Exome Variant Server HOOK3_000067 1/13006 1/8600 0/4406
?/? c.1321+15C>T r.(=) p.(=) g.42829352C>T Copied from the Exome Variant Server HOOK3_000068 2/13006 1/8600 1/4406
?/? c.1321+20A>G r.(=) p.(=) g.42829357A>G Copied from the Exome Variant Server HOOK3_000069 4/13006 0/8600 4/4406
?/? c.1321+29A>G r.(=) p.(=) g.42829366A>G Copied from the Exome Variant Server HOOK3_000070 1/13006 0/8600 1/4406
?/? c.1321+36_1321+37insT r.(=) p.(=) g.42829373_42829374insT Copied from the Exome Variant Server HOOK3_000071 82/12518 45/8254 37/4264
?/? c.1321+51C>T r.(=) p.(=) g.42829388C>T Copied from the Exome Variant Server HOOK3_000072 1/13006 0/8600 1/4406
?/? c.1322-58C>A r.(=) p.(=) g.42837712C>A Copied from the Exome Variant Server HOOK3_000073 73/4566 69/3182 4/1384
?/? c.1322-13T>C r.(=) p.(=) g.42837757T>C Copied from the Exome Variant Server HOOK3_000074 9/13006 9/8600 0/4406
?/? c.1347G>T r.(?) p.(Glu449Asp) g.42837795G>T Copied from the Exome Variant Server HOOK3_000075 1/13006 0/8600 1/4406
?/? c.1360C>A r.(?) p.(Leu454Ile) g.42837808C>A Copied from the Exome Variant Server HOOK3_000076 1/13006 1/8600 0/4406
?/? c.1389C>G r.(?) p.(Ile463Met) g.42837837C>G Copied from the Exome Variant Server HOOK3_000077 1/13006 0/8600 1/4406
?/? c.1391+15G>C r.(=) p.(=) g.42837854G>C Copied from the Exome Variant Server HOOK3_000078 1/13006 1/8600 0/4406
?/? c.1392-33A>G r.(=) p.(=) g.42841765A>G Copied from the Exome Variant Server HOOK3_000079 2/12984 2/8594 0/4390
?/? c.1450T>G r.(?) p.(Ser484Ala) g.42841856T>G Copied from the Exome Variant Server HOOK3_000080 2/13006 2/8600 0/4406
?/? c.1451C>T r.(?) p.(Ser484Leu) g.42841857C>T Copied from the Exome Variant Server HOOK3_000081 1/13006 1/8600 0/4406
?/? c.1532+4G>A r.spl? p.? g.42841942G>A Copied from the Exome Variant Server HOOK3_000082 1/13006 1/8600 0/4406
?/? c.1532+31A>G r.(=) p.(=) g.42841969A>G Copied from the Exome Variant Server HOOK3_000083 1/13006 1/8600 0/4406
?/? c.1533-43C>T r.(=) p.(=) g.42852650C>T Copied from the Exome Variant Server HOOK3_000084 2/13006 1/8600 1/4406
?/? c.1533G>A r.(=) p.(=) g.42852693G>A Copied from the Exome Variant Server HOOK3_000085 1/13004 1/8598 0/4406
?/? c.1586A>G r.(?) p.(Lys529Arg) g.42852746A>G Copied from the Exome Variant Server HOOK3_000086 2/13006 2/8600 0/4406
?/? c.1620+22C>T r.(=) p.(=) g.42852802C>T Copied from the Exome Variant Server HOOK3_000087 1/13006 0/8600 1/4406
?/? c.1620+23G>A r.(=) p.(=) g.42852803G>A Copied from the Exome Variant Server HOOK3_000088 5/13006 0/8600 5/4406
?/? c.1632A>G r.(=) p.(=) g.42857261A>G Copied from the Exome Variant Server HOOK3_000089 1/13006 1/8600 0/4406
?/? c.1632_1634del r.(?) p.(Lys547del) g.42857261_42857263del Copied from the Exome Variant Server HOOK3_000090 1/12516 1/8252 0/4264
?/? c.1655+49T>G r.(=) p.(=) g.42857333T>G Copied from the Exome Variant Server HOOK3_000091 1/13004 1/8598 0/4406
?/? c.1656-31G>A r.(=) p.(=) g.42862959G>A Copied from the Exome Variant Server HOOK3_000092 1/13006 0/8600 1/4406
?/? c.1656-27T>G r.(=) p.(=) g.42862963T>G Copied from the Exome Variant Server HOOK3_000093 1/13006 1/8600 0/4406
?/? c.1656-18T>C r.(=) p.(=) g.42862972T>C Copied from the Exome Variant Server HOOK3_000094 2/13006 2/8600 0/4406
?/? c.1663C>T r.(=) p.(=) g.42862997C>T Copied from the Exome Variant Server HOOK3_000095 86/13006 1/8600 85/4406
?/? c.1673C>T r.(?) p.(Ala558Val) g.42863007C>T Copied from the Exome Variant Server HOOK3_000096 1/13006 1/8600 0/4406
?/? c.1675A>G r.(?) p.(Asn559Asp) g.42863009A>G Copied from the Exome Variant Server HOOK3_000097 1/13006 0/8600 1/4406
?/? c.1738+31G>C r.(=) p.(=) g.42863103G>C Copied from the Exome Variant Server HOOK3_000098 1/13006 0/8600 1/4406
?/? c.1739-41_1739-38del r.(=) p.(=) g.42865407_42865410del Copied from the Exome Variant Server HOOK3_000099 683/7110 244/4768 439/2342
?/? c.1839+7A>G r.(=) p.(=) g.42865555A>G Copied from the Exome Variant Server HOOK3_000100 1/12990 1/8590 0/4400
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