All transcript variants in gene CNP

Information The variants shown are described using the NM_033133.4 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.4-39G>A r.(=) p.(=) g.40120047G>A Copied from the Exome Variant Server CNP_000001 9/12284 0/8314 9/3970
?/? c.49T>A r.(?) p.(Phe17Ile) g.40120131T>A Copied from the Exome Variant Server CNP_000002 1/12626 1/8436 0/4190
?/? c.135G>A r.(=) p.(=) g.40120217G>A Copied from the Exome Variant Server CNP_000003 1/12848 0/8510 1/4338
?/? c.168C>T r.(=) p.(=) g.40120250C>T Copied from the Exome Variant Server CNP_000004 1/12760 1/8480 0/4280
?/? c.205G>A r.(?) p.(Val69Ile) g.40120287G>A Copied from the Exome Variant Server CNP_000005 1/12702 1/8474 0/4228
?/? c.258C>T r.(=) p.(=) g.40120340C>T Copied from the Exome Variant Server CNP_000006 40/12558 0/8396 40/4162
?/? c.278G>A r.(?) p.(Arg93Gln) g.40120360G>A Copied from the Exome Variant Server CNP_000007 2/12436 0/8356 2/4080
?/? c.378C>T r.(=) p.(=) g.40120460C>T Copied from the Exome Variant Server CNP_000008 15/12412 12/8350 3/4062
?/? c.382C>T r.(?) p.(Arg128Trp) g.40120464C>T Copied from the Exome Variant Server CNP_000009 1/12416 1/8352 0/4064
?/? c.383G>A r.(?) p.(Arg128Gln) g.40120465G>A Copied from the Exome Variant Server CNP_000010 1/12424 0/8354 1/4070
?/? c.393G>A r.(=) p.(=) g.40120475G>A Copied from the Exome Variant Server CNP_000011 9/12446 9/8364 0/4082
?/? c.414C>T r.(=) p.(=) g.40120496C>T Copied from the Exome Variant Server CNP_000012 1/12494 1/8382 0/4112
?/? c.450C>T r.(=) p.(=) g.40120532C>T Copied from the Exome Variant Server CNP_000013 1/12530 1/8384 0/4146
?/? c.540G>T r.(=) p.(=) g.40120622G>T Copied from the Exome Variant Server CNP_000014 2/12352 0/8348 2/4004
?/? c.561G>A r.(=) p.(=) g.40120643G>A Copied from the Exome Variant Server CNP_000015 20/12274 0/8328 20/3946
?/? c.603C>A r.(=) p.(=) g.40120685C>A Copied from the Exome Variant Server CNP_000016 4/12182 3/8280 1/3902
?/? c.608G>A r.(?) p.(Arg203His) g.40120690G>A Copied from the Exome Variant Server CNP_000017 1/12140 1/8284 0/3856
?/? c.615C>G r.(=) p.(=) g.40120697C>G Copied from the Exome Variant Server CNP_000018 7/12156 6/8294 1/3862
?/? c.620A>G r.(?) p.(Gln207Arg) g.40120702A>G Copied from the Exome Variant Server CNP_000019 72/12184 0/8312 72/3872
?/? c.653C>T r.(?) p.(Ala218Val) g.40120735C>T Copied from the Exome Variant Server CNP_000020 2/12298 1/8334 1/3964
?/? c.676+12G>A r.(=) p.(=) g.40120770G>A Copied from the Exome Variant Server CNP_000021 1/12416 1/8340 0/4076
?/? c.676+13T>G r.(=) p.(=) g.40120771T>G Copied from the Exome Variant Server CNP_000022 2498/12404 1355/8330 1143/4074
?/? c.676+33C>G r.(=) p.(=) g.40120791C>G Copied from the Exome Variant Server CNP_000023 1/12412 1/8302 0/4110
?/? c.676+38T>A r.(=) p.(=) g.40120796T>A Copied from the Exome Variant Server CNP_000024 25/12384 17/8274 8/4110
?/? c.676+50G>A r.(=) p.(=) g.40120808G>A Copied from the Exome Variant Server CNP_000025 3/12466 3/8302 0/4164
?/? c.677-41C>T r.(=) p.(=) g.40123869C>T Copied from the Exome Variant Server CNP_000026 1/12692 1/8448 0/4244
?/? c.677-39del r.(=) p.(=) g.40123871del Copied from the Exome Variant Server CNP_000027 1/12158 1/8082 0/4076
?/? c.680_681insC r.(?) p.(Gly229Trpfs*3) g.40123913_40123914insC Copied from the Exome Variant Server CNP_000028 45/11784 40/7966 5/3818
?/? c.705G>C r.(?) p.(Lys235Asn) g.40123938G>C Copied from the Exome Variant Server CNP_000029 8/12376 7/8368 1/4008
?/? c.708G>A r.(?) p.(Met236Ile) g.40123941G>A Copied from the Exome Variant Server CNP_000030 1/12372 1/8364 0/4008
?/? c.744C>T r.(=) p.(=) g.40123977C>T Copied from the Exome Variant Server CNP_000031 1/12248 1/8288 0/3960
?/? c.749T>C r.(?) p.(Leu250Pro) g.40123982T>C Copied from the Exome Variant Server CNP_000032 1/12248 0/8296 1/3952
?/? c.804C>T r.(=) p.(=) g.40124037C>T Copied from the Exome Variant Server CNP_000033 2/12182 2/8264 0/3918
?/? c.807T>G r.(=) p.(=) g.40124040T>G Copied from the Exome Variant Server CNP_000034 1/12166 1/8252 0/3914
?/? c.817-21C>T r.(=) p.(=) g.40125472C>T Copied from the Exome Variant Server CNP_000035 1/12328 1/8324 0/4004
?/? c.892G>A r.(?) p.(Ala298Thr) g.40125568G>A Copied from the Exome Variant Server CNP_000036 1/12376 1/8368 0/4008
?/? c.896G>T r.(?) p.(Arg299Leu) g.40125572G>T Copied from the Exome Variant Server CNP_000037 1/12406 1/8372 0/4034
?/? c.897G>C r.(=) p.(=) g.40125573G>C Copied from the Exome Variant Server CNP_000038 1/12418 1/8378 0/4040
?/? c.909C>T r.(=) p.(=) g.40125585C>T Copied from the Exome Variant Server CNP_000039 2/12458 1/8386 1/4072
?/? c.913C>G r.(?) p.(Gln305Glu) g.40125589C>G Copied from the Exome Variant Server CNP_000040 1/12462 1/8384 0/4078
?/? c.933G>T r.(=) p.(=) g.40125609G>T Copied from the Exome Variant Server CNP_000041 3/12450 3/8368 0/4082
?/? c.956C>A r.(?) p.(Pro319His) g.40125632C>A Copied from the Exome Variant Server CNP_000042 1/12468 1/8368 0/4100
?/? c.971C>T r.(?) p.(Pro324Leu) g.40125647C>T Copied from the Exome Variant Server CNP_000043 15/12386 3/8344 12/4042
?/? c.982C>T r.(?) p.(Arg328Cys) g.40125658C>T Copied from the Exome Variant Server CNP_000044 2/12352 1/8304 1/4048
?/? c.1014C>A r.(?) p.(Asp338Glu) g.40125690C>A Copied from the Exome Variant Server CNP_000045 2/12334 2/8294 0/4040
?/? c.1021G>A r.(?) p.(Ala341Thr) g.40125697G>A Copied from the Exome Variant Server CNP_000046 1/12326 1/8300 0/4026
?/? c.1057C>T r.(?) p.(Arg353Trp) g.40125733C>T Copied from the Exome Variant Server CNP_000047 1/12260 1/8296 0/3964
?/? c.1065G>A r.(=) p.(=) g.40125741G>A Copied from the Exome Variant Server CNP_000048 4/12262 4/8284 0/3978
?/? c.1078C>T r.(?) p.(Arg360*) g.40125754C>T Copied from the Exome Variant Server CNP_000049 1/12324 1/8322 0/4002
?/? c.1079G>A r.(?) p.(Arg360Gln) g.40125755G>A Copied from the Exome Variant Server CNP_000050 1/12326 1/8328 0/3998
?/? c.1083C>T r.(=) p.(=) g.40125759C>T Copied from the Exome Variant Server CNP_000051 2/12352 1/8338 1/4014
?/? c.1087G>A r.(?) p.(Glu363Lys) g.40125763G>A Copied from the Exome Variant Server CNP_000052 1/12396 1/8356 0/4040
?/? c.1095C>T r.(=) p.(=) g.40125771C>T Copied from the Exome Variant Server CNP_000053 159/12428 3/8356 156/4072
?/? c.1108G>A r.(?) p.(Gly370Ser) g.40125784G>A Copied from the Exome Variant Server CNP_000054 2/12484 2/8388 0/4096
?/? c.1150C>T r.(=) p.(=) g.40125826C>T Copied from the Exome Variant Server CNP_000055 1/12552 1/8404 0/4148
?/? c.1188G>A r.(=) p.(=) g.40125864G>A Copied from the Exome Variant Server CNP_000056 3094/12454 2688/8380 406/4074
?/? c.1191C>T r.(=) p.(=) g.40125867C>T Copied from the Exome Variant Server CNP_000057 1/12454 0/8376 1/4078
?/? c.1194C>T r.(=) p.(=) g.40125870C>T Copied from the Exome Variant Server CNP_000058 1/12442 0/8372 1/4070
?/? c.1229G>A r.(?) p.(Arg410Gln) g.40125905G>A Copied from the Exome Variant Server CNP_000059 1/12216 0/8296 1/3920
?/? c.1239C>T r.(=) p.(=) g.40125915C>T Copied from the Exome Variant Server CNP_000060 31/12230 0/8304 31/3926
?/? c.*27A>G r.(=) p.(=) g.40125969A>G Copied from the Exome Variant Server CNP_000061 165/11570 2/7906 163/3664
?/? c.*2807C>T r.(=) p.(=) g.40128749C>T Copied from the Exome Variant Server DNAJC7_000001 1/11902 0/8192 1/3710
?/? c.*2818T>C r.(=) p.(=) g.40128760T>C Copied from the Exome Variant Server DNAJC7_000002 11/11876 0/8182 11/3694
?/? c.*2852_*2853del r.(=) p.(=) g.40128794_40128795del Copied from the Exome Variant Server DNAJC7_000003 3/11370 3/7840 0/3530
?/? c.*2855_*2856insA r.(=) p.(=) g.40128797_40128798insA Copied from the Exome Variant Server DNAJC7_000004 1/11366 1/7838 0/3528
?/? c.*2865G>A r.(=) p.(=) g.40128807G>A Copied from the Exome Variant Server DNAJC7_000005 1/11838 1/8180 0/3658
?/? c.*3300T>G r.(=) p.(=) g.40129242T>G Copied from the Exome Variant Server DNAJC7_000006 248/12122 2/8282 246/3840
?/? c.*3307G>C r.(=) p.(=) g.40129249G>C Copied from the Exome Variant Server DNAJC7_000007 2/12130 0/8294 2/3836
?/? c.*3362G>A r.(=) p.(=) g.40129304G>A Copied from the Exome Variant Server DNAJC7_000009 1/12098 1/8254 0/3844
?/? c.*3377G>A r.(=) p.(=) g.40129319G>A Copied from the Exome Variant Server DNAJC7_000011 55/12116 1/8256 54/3860
?/? c.*3437del r.(=) p.(=) g.40129379del Copied from the Exome Variant Server DNAJC7_000014 2/11502 2/7864 0/3638
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