Full data view for gene CAP1

Information The variants shown are described using the NM_006367.3 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-10-35T>A r.(=) p.(=) g.40524974T>A Copied from the Exome Variant Server CAP1_000002 1/11772 1/8156 0/3616 - - - - - - -
?/? c.-10-20C>T r.(=) p.(=) g.40524989C>T Copied from the Exome Variant Server CAP1_000004 2/11822 2/8168 0/3654 - - - - - - -
?/? c.-10-2A>G r.spl? p.? g.40525007A>G Copied from the Exome Variant Server CAP1_000006 3/11910 3/8202 0/3708 - - - - - - -
?/? c.-5C>G r.(=) p.(=) g.40525014C>G Copied from the Exome Variant Server CAP1_000008 1/11936 1/8212 0/3724 - - - - - - -
?/? c.49C>T r.(?) p.(Arg17Cys) g.40525067C>T Copied from the Exome Variant Server CAP1_000010 1/12066 1/8250 0/3816 - - - - - - -
?/? c.79A>G r.(?) p.(Met27Val) g.40525097A>G Copied from the Exome Variant Server CAP1_000012 2/12140 2/8278 0/3862 - - - - - - -
?/? c.93T>C r.(=) p.(=) g.40525111T>C Copied from the Exome Variant Server CAP1_000014 127/12140 13/8280 114/3860 - - - - - - -
?/? c.113-30G>T r.(=) p.(=) g.40525709G>T Copied from the Exome Variant Server CAP1_000016 4/12322 4/8354 0/3968 - - - - - - -
?/? c.147G>A r.(=) p.(=) g.40525773G>A Copied from the Exome Variant Server CAP1_000018 1/12368 1/8364 0/4004 - - - - - - -
?/? c.200G>A r.(?) p.(Gly67Glu) g.40525826G>A Copied from the Exome Variant Server CAP1_000001 1/12314 0/8346 1/3968 - - - - - - -
?/? c.204C>T r.(=) p.(=) g.40525830C>T Copied from the Exome Variant Server CAP1_000003 1/12300 1/8346 0/3954 - - - - - - -
?/? c.214C>A r.(?) p.(His72Asn) g.40525840C>A Copied from the Exome Variant Server CAP1_000005 2/12272 1/8336 1/3936 - - - - - - -
?/? c.216+46del r.(=) p.(=) g.40525888del Copied from the Exome Variant Server CAP1_000007 5/11596 1/7904 4/3692 - - - - - - -
?/? c.217-37T>A r.(=) p.(=) g.40527370T>A Copied from the Exome Variant Server CAP1_000009 34/12022 0/8228 34/3794 - - - - - - -
?/? c.217-31G>A r.(=) p.(=) g.40527376G>A Copied from the Exome Variant Server CAP1_000011 1/12044 0/8240 1/3804 - - - - - - -
?/? c.219G>A r.(=) p.(=) g.40527409G>A Copied from the Exome Variant Server CAP1_000013 76/12086 2/8254 74/3832 - - - - - - -
?/? c.254C>T r.(?) p.(Ala85Val) g.40527444C>T Copied from the Exome Variant Server CAP1_000015 2/12108 1/8276 1/3832 - - - - - - -
?/? c.294+46C>T r.(=) p.(=) g.40527530C>T Copied from the Exome Variant Server CAP1_000017 76/12006 1/8226 75/3780 - - - - - - -
?/? c.295-49C>T r.(=) p.(=) g.40529850C>T Copied from the Exome Variant Server CAP1_000019 1/12006 1/8240 0/3766 - - - - - - -
?/? c.295-4C>G r.spl? p.? g.40529895C>G Copied from the Exome Variant Server CAP1_000020 1/11940 1/8202 0/3738 - - - - - - -
?/? c.308A>G r.(?) p.(Asp103Gly) g.40529912A>G Copied from the Exome Variant Server CAP1_000021 1/11964 1/8202 0/3762 - - - - - - -
?/? c.312G>T r.(?) p.(Leu104Phe) g.40529916G>T Copied from the Exome Variant Server CAP1_000022 1/11972 1/8208 0/3764 - - - - - - -
?/? c.313T>C r.(=) p.(=) g.40529917T>C Copied from the Exome Variant Server CAP1_000023 1/11970 1/8206 0/3764 - - - - - - -
?/? c.395C>T r.(?) p.(Ser132Leu) g.40529999C>T Copied from the Exome Variant Server CAP1_000024 4/12134 0/8256 4/3878 - - - - - - -
?/? c.405C>T r.(=) p.(=) g.40530009C>T Copied from the Exome Variant Server CAP1_000025 1/12146 0/8260 1/3886 - - - - - - -
?/? c.438+9C>T r.(=) p.(=) g.40530051C>T Copied from the Exome Variant Server CAP1_000026 1/12038 1/8220 0/3818 - - - - - - -
?/? c.438+10G>A r.(=) p.(=) g.40530052G>A Copied from the Exome Variant Server CAP1_000027 1/12034 1/8218 0/3816 - - - - - - -
?/? c.524+27T>C r.(=) p.(=) g.40530258T>C Copied from the Exome Variant Server CAP1_000028 1/11980 0/8212 1/3768 - - - - - - -
?/? c.524+38G>A r.(=) p.(=) g.40530269G>A Copied from the Exome Variant Server CAP1_000029 1/12028 1/8236 0/3792 - - - - - - -
?/? c.524+51G>A r.(=) p.(=) g.40530282G>A Copied from the Exome Variant Server CAP1_000030 2/12140 0/8286 2/3854 - - - - - - -
?/? c.525-50C>G r.(=) p.(=) g.40531837C>G Copied from the Exome Variant Server CAP1_000031 3/12476 3/8404 0/4072 - - - - - - -
?/? c.525-38C>T r.(=) p.(=) g.40531849C>T Copied from the Exome Variant Server CAP1_000032 2/12436 2/8386 0/4050 - - - - - - -
?/? c.525-37G>A r.(=) p.(=) g.40531850G>A Copied from the Exome Variant Server CAP1_000033 160/12436 5/8384 155/4052 - - - - - - -
?/? c.525-34T>C r.(=) p.(=) g.40531853T>C Copied from the Exome Variant Server CAP1_000034 2/12446 0/8386 2/4060 - - - - - - -
?/? c.525-20_525-18del r.(=) p.(=) g.40531867_40531869del Copied from the Exome Variant Server CAP1_000035 26/11862 19/7996 7/3866 - - - - - - -
?/? c.549C>G r.(=) p.(=) g.40531911C>G Copied from the Exome Variant Server CAP1_000036 14/12246 12/8294 2/3952 - - - - - - -
?/? c.605C>G r.(?) p.(Thr202Ser) g.40531967C>G Copied from the Exome Variant Server CAP1_000037 1/12134 0/8234 1/3900 - - - - - - -
?/? c.630+12C>A r.(=) p.(=) g.40532004C>A Copied from the Exome Variant Server CAP1_000038 10/12002 9/8188 1/3814 - - - - - - -
?/? c.630+36C>T r.(=) p.(=) g.40532028C>T Copied from the Exome Variant Server CAP1_000039 332/11840 20/8146 312/3694 - - - - - - -
?/? c.672C>T r.(=) p.(=) g.40533253C>T Copied from the Exome Variant Server CAP1_000040 1/12272 0/8296 1/3976 - - - - - - -
?/? c.676G>T r.(?) p.(Ala226Ser) g.40533257G>T Copied from the Exome Variant Server CAP1_000041 2/12250 2/8290 0/3960 - - - - - - -
?/? c.678C>T r.(=) p.(=) g.40533259C>T Copied from the Exome Variant Server CAP1_000042 41/12236 3/8284 38/3952 - - - - - - -
?/? c.775G>A r.(?) p.(Ala259Thr) g.40533356G>A Copied from the Exome Variant Server CAP1_000043 2/12450 1/8366 1/4084 - - - - - - -
?/? c.776C>T r.(?) p.(Ala259Val) g.40533357C>T Copied from the Exome Variant Server CAP1_000044 3/12456 3/8368 0/4088 - - - - - - -
?/? c.777G>A r.(=) p.(=) g.40533358G>A Copied from the Exome Variant Server CAP1_000045 185/12484 165/8378 20/4106 - - - - - - -
?/? c.808+18C>T r.(=) p.(=) g.40533407C>T Copied from the Exome Variant Server CAP1_000046 1/12836 0/8514 1/4322 - - - - - - -
?/? c.808+20C>T r.(=) p.(=) g.40533409C>T Copied from the Exome Variant Server CAP1_000047 3/12830 3/8514 0/4316 - - - - - - -
?/? c.808+21G>A r.(=) p.(=) g.40533410G>A Copied from the Exome Variant Server CAP1_000048 1/12834 1/8514 0/4320 - - - - - - -
?/? c.808+32_808+34del r.(=) p.(=) g.40533421_40533423del Copied from the Exome Variant Server CAP1_000050 14/12300 13/8138 1/4162 - - - - - - -
?/? c.808+51A>G r.(=) p.(=) g.40533440A>G Copied from the Exome Variant Server CAP1_000052 1/12854 0/8526 1/4328 - - - - - - -
?/? c.809-44G>T r.(=) p.(=) g.40535318G>T Copied from the Exome Variant Server CAP1_000053 1/12118 1/8266 0/3852 - - - - - - -
?/? c.809-23C>T r.(=) p.(=) g.40535339C>T Copied from the Exome Variant Server CAP1_000056 10/12222 8/8298 2/3924 - - - - - - -
?/? c.810C>T r.(=) p.(=) g.40535363C>T Copied from the Exome Variant Server CAP1_000058 21/12268 17/8316 4/3952 - - - - - - -
?/? c.843C>T r.(=) p.(=) g.40535396C>T Copied from the Exome Variant Server CAP1_000059 11/12274 0/8324 11/3950 - - - - - - -
?/? c.873T>C r.(=) p.(=) g.40535426T>C Copied from the Exome Variant Server CAP1_000061 1/12248 1/8314 0/3934 - - - - - - -
?/? c.881G>A r.(?) p.(Arg294His) g.40535434G>A Copied from the Exome Variant Server CAP1_000063 1/12218 1/8292 0/3926 - - - - - - -
?/? c.905C>T r.(?) p.(Ala302Val) g.40535458C>T Copied from the Exome Variant Server CAP1_000064 4/12132 4/8262 0/3870 - - - - - - -
?/? c.924_937del r.(?) p.(Ser308Argfs*11) g.40535477_40535490del Copied from the Exome Variant Server CAP1_000067 21/11528 12/7880 9/3648 - - - - - - -
?/? c.938G>T r.(?) p.(Arg313Leu) g.40535491G>T Copied from the Exome Variant Server CAP1_000049 1/11990 0/8204 1/3786 - - - - - - -
?/? c.993+16C>A r.(=) p.(=) g.40535562C>A Copied from the Exome Variant Server CAP1_000051 3/11854 3/8184 0/3670 - - - - - - -
?/? c.994-14_994-11del r.(=) p.(=) g.40535817_40535820del Copied from the Exome Variant Server CAP1_000054 5/11570 4/7904 1/3666 - - - - - - -
?/? c.996A>G r.(=) p.(=) g.40535833A>G Copied from the Exome Variant Server CAP1_000055 1/12074 1/8254 0/3820 - - - - - - -
?/? c.1008T>C r.(=) p.(=) g.40535845T>C Copied from the Exome Variant Server CAP1_000057 1/12134 1/8270 0/3864 - - - - - - -
?/? c.1009G>C r.(?) p.(Val337Leu) g.40535846G>C Copied from the Exome Variant Server CAP1_000060 1/12142 1/8278 0/3864 - - - - - - -
?/? c.1059A>G r.(?) p.(Ile353Met) g.40535896A>G Copied from the Exome Variant Server CAP1_000092 1/12370 1/8342 0/4028 - - - - - - -
?/? c.1074C>T r.(=) p.(=) g.40535911C>T Copied from the Exome Variant Server CAP1_000062 1/12406 0/8346 1/4060 - - - - - - -
?/? c.1080A>G r.(=) p.(=) g.40535917A>G Copied from the Exome Variant Server CAP1_000065 1/12422 1/8354 0/4068 - - - - - - -
?/? c.1086A>G r.(=) p.(=) g.40535923A>G Copied from the Exome Variant Server CAP1_000066 1/12416 0/8352 1/4064 - - - - - - -
?/? c.1099A>G r.(?) p.(Ile367Val) g.40535936A>G Copied from the Exome Variant Server CAP1_000068 2/12404 1/8350 1/4054 - - - - - - -
?/? c.1116A>T r.(=) p.(=) g.40535953A>T Copied from the Exome Variant Server CAP1_000069 13/12390 0/8344 13/4046 - - - - - - -
?/? c.1117+14G>A r.(=) p.(=) g.40535968G>A Copied from the Exome Variant Server CAP1_000070 1/12380 1/8340 0/4040 - - - - - - -
?/? c.1117+16T>G r.(=) p.(=) g.40535970T>G Copied from the Exome Variant Server CAP1_000071 200/12378 1/8340 199/4038 - - - - - - -
?/? c.1117+44C>T r.(=) p.(=) g.40535998C>T Copied from the Exome Variant Server CAP1_000072 1/12200 1/8306 0/3894 - - - - - - -
?/? c.1117+48A>G r.(=) p.(=) g.40536002A>G Copied from the Exome Variant Server CAP1_000073 2/12174 1/8284 1/3890 - - - - - - -
?/? c.1118-28_1118-27insT r.(=) p.(=) g.40536074_40536075insT Copied from the Exome Variant Server CAP1_000074 11526/11608 7922/7922 3604/3686 - - - - - - -
?/? c.1191C>T r.(=) p.(=) g.40536175C>T Copied from the Exome Variant Server CAP1_000075 4/12172 4/8308 0/3864 - - - - - - -
?/? c.1200+23T>A r.(=) p.(=) g.40536207T>A Copied from the Exome Variant Server CAP1_000076 1/12112 0/8268 1/3844 - - - - - - -
?/? c.1200+46T>C r.(=) p.(=) g.40536230T>C Copied from the Exome Variant Server CAP1_000077 1/12056 1/8226 0/3830 - - - - - - -
?/? c.1200+49_1200+50del r.(=) p.(=) g.40536233_40536234del Copied from the Exome Variant Server CAP1_000078 35/11560 0/7888 35/3672 - - - - - - -
?/? c.1201-43C>T r.(=) p.(=) g.40536465C>T Copied from the Exome Variant Server CAP1_000079 1/12166 1/8310 0/3856 - - - - - - -
?/? c.1219A>G r.(?) p.(Thr407Ala) g.40536526A>G Copied from the Exome Variant Server CAP1_000080 1/12060 0/8262 1/3798 - - - - - - -
?/? c.1245C>G r.(=) p.(=) g.40536552C>G Copied from the Exome Variant Server CAP1_000081 1/12034 0/8236 1/3798 - - - - - - -
?/? c.1305C>T r.(=) p.(=) g.40536612C>T Copied from the Exome Variant Server CAP1_000082 7/11964 1/8210 6/3754 - - - - - - -
?/? c.1306G>A r.(?) p.(Glu436Lys) g.40536613G>A Copied from the Exome Variant Server CAP1_000083 1/11948 0/8206 1/3742 - - - - - - -
?/? c.1335C>T r.(=) p.(=) g.40536642C>T Copied from the Exome Variant Server CAP1_000084 1/11906 1/8200 0/3706 - - - - - - -
?/? c.1344+46C>T r.(=) p.(=) g.40536697C>T Copied from the Exome Variant Server CAP1_000085 3/11886 3/8202 0/3684 - - - - - - -
?/? c.1345-20T>C r.(=) p.(=) g.40537102T>C Copied from the Exome Variant Server CAP1_000086 1/11938 1/8200 0/3738 - - - - - - -
?/? c.1345-15C>G r.(=) p.(=) g.40537107C>G Copied from the Exome Variant Server CAP1_000087 1/11934 1/8198 0/3736 - - - - - - -
?/? c.1345-14_1345-11del r.(=) p.(=) g.40537108_40537111del Copied from the Exome Variant Server CAP1_000088 32/11478 26/7864 6/3614 - - - - - - -
?/? c.*3G>A r.(=) p.(=) g.40537208G>A Copied from the Exome Variant Server CAP1_000089 7/11984 6/8202 1/3782 - - - - - - -
?/? c.*7T>C r.(=) p.(=) g.40537212T>C Copied from the Exome Variant Server CAP1_000090 1/11988 1/8208 0/3780 - - - - - - -
?/? c.*46del r.(=) p.(=) g.40537251del Copied from the Exome Variant Server CAP1_000091 1/11432 0/7856 1/3576 - - - - - - -
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