Full data view for gene CPPED1

Information The variants shown are described using the NM_018340.2 transcript reference sequence.

80 entries on 1 page. Showing entries 1 - 80.
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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.-25A>C r.(=) p.(=) g.12897658T>G Copied from the Exome Variant Server CPPED1_000080 177/12038 158/8222 19/3816 - - - - - - -
?/? c.1A>G r.? p.? g.12897633T>C Copied from the Exome Variant Server CPPED1_000079 1/12004 1/8200 0/3804 - - - - - - -
?/? c.16G>A r.(?) p.(Ala6Thr) g.12897618C>T Copied from the Exome Variant Server CPPED1_000078 1/11962 1/8186 0/3776 - - - - - - -
?/? c.31C>T r.(?) p.(His11Tyr) g.12897603G>A Copied from the Exome Variant Server CPPED1_000077 8/11934 0/8164 8/3770 - - - - - - -
?/? c.35G>C r.(?) p.(Arg12Thr) g.12897599C>G Copied from the Exome Variant Server CPPED1_000076 1/11916 1/8158 0/3758 - - - - - - -
?/? c.48G>T r.(?) p.(Arg16Ser) g.12897586C>A Copied from the Exome Variant Server CPPED1_000075 2/11938 0/8166 2/3772 - - - - - - -
?/? c.54G>T r.(=) p.(=) g.12897580C>A Copied from the Exome Variant Server CPPED1_000074 1/11908 1/8160 0/3748 - - - - - - -
?/? c.56C>A r.(?) p.(Ala19Asp) g.12897578G>T Copied from the Exome Variant Server CPPED1_000073 3654/11910 1428/8158 2226/3752 - - - - - - -
?/? c.70+42C>T r.(=) p.(=) g.12897522G>A Copied from the Exome Variant Server CPPED1_000072 423/11658 163/8056 260/3602 - - - - - - -
?/? c.70+51C>A r.(=) p.(=) g.12897513G>T Copied from the Exome Variant Server CPPED1_000071 11/11588 1/8000 10/3588 - - - - - - -
?/? c.71-11_71-10del r.(=) p.(=) g.12875270_12875271del Copied from the Exome Variant Server CPPED1_000070 134/11368 121/7814 13/3554 - - - - - - -
?/? c.82G>A r.(?) p.(Glu28Lys) g.12875249C>T Copied from the Exome Variant Server CPPED1_000069 1/11994 1/8210 0/3784 - - - - - - -
?/? c.91G>A r.(?) p.(Gly31Ser) g.12875240C>T Copied from the Exome Variant Server CPPED1_000068 5/12090 5/8238 0/3852 - - - - - - -
?/? c.115G>A r.(?) p.(Ala39Thr) g.12875216C>T Copied from the Exome Variant Server CPPED1_000067 1/12216 1/8280 0/3936 - - - - - - -
?/? c.119A>T r.(?) p.(Asp40Val) g.12875212T>A Copied from the Exome Variant Server CPPED1_000066 1/12246 0/8290 1/3956 - - - - - - -
?/? c.131G>A r.(?) p.(Gly44Glu) g.12875200C>T Copied from the Exome Variant Server CPPED1_000065 1/12284 1/8308 0/3976 - - - - - - -
?/? c.167A>G r.(?) p.(Asn56Ser) g.12875164T>C Copied from the Exome Variant Server CPPED1_000064 31/12474 0/8386 31/4088 - - - - - - -
?/? c.172G>A r.(?) p.(Gly58Ser) g.12875159C>T Copied from the Exome Variant Server CPPED1_000063 1/12508 1/8386 0/4122 - - - - - - -
?/? c.178G>A r.(?) p.(Glu60Lys) g.12875153C>T Copied from the Exome Variant Server CPPED1_000062 8/12506 7/8392 1/4114 - - - - - - -
?/? c.187C>G r.(?) p.(Gln63Glu) g.12875144G>C Copied from the Exome Variant Server CPPED1_000061 18/12546 0/8404 18/4142 - - - - - - -
?/? c.196C>T r.(?) p.(Arg66Cys) g.12875135G>A Copied from the Exome Variant Server CPPED1_000060 1/12572 1/8418 0/4154 - - - - - - -
?/? c.197G>A r.(?) p.(Arg66His) g.12875134C>T Copied from the Exome Variant Server CPPED1_000059 1/12566 0/8414 1/4152 - - - - - - -
?/? c.214G>A r.(?) p.(Val72Ile) g.12875117C>T Copied from the Exome Variant Server CPPED1_000058 1/12572 1/8414 0/4158 - - - - - - -
?/? c.231G>A r.(=) p.(=) g.12875100C>T Copied from the Exome Variant Server CPPED1_000057 1/12576 0/8416 1/4160 - - - - - - -
?/? c.256G>A r.(?) p.(Val86Ile) g.12875075C>T Copied from the Exome Variant Server CPPED1_000056 1/12566 0/8420 1/4146 - - - - - - -
?/? c.264C>T r.(=) p.(=) g.12875067G>A Copied from the Exome Variant Server CPPED1_000055 4/12562 3/8426 1/4136 - - - - - - -
?/? c.265G>A r.(?) p.(Gly89Ser) g.12875066C>T Copied from the Exome Variant Server CPPED1_000054 1/12570 0/8420 1/4150 - - - - - - -
?/? c.282C>T r.(=) p.(=) g.12875049G>A Copied from the Exome Variant Server CPPED1_000053 1/12528 1/8404 0/4124 - - - - - - -
?/? c.289+7C>G r.(=) p.(=) g.12875035G>C Copied from the Exome Variant Server CPPED1_000052 18/12484 0/8388 18/4096 - - - - - - -
?/? c.289+34C>T r.(=) p.(=) g.12875008G>A Copied from the Exome Variant Server CPPED1_000051 9/12384 9/8368 0/4016 - - - - - - -
?/? c.289+43G>A r.(=) p.(=) g.12874999C>T Copied from the Exome Variant Server CPPED1_000050 1/12302 1/8334 0/3968 - - - - - - -
?/? c.289+44G>T r.(=) p.(=) g.12874998C>A Copied from the Exome Variant Server CPPED1_000049 13/12304 0/8332 13/3972 - - - - - - -
?/? c.290-43A>G r.(=) p.(=) g.12798949T>C Copied from the Exome Variant Server CPPED1_000048 2/12076 2/8248 0/3828 - - - - - - -
?/? c.290-19G>A r.(=) p.(=) g.12798925C>T Copied from the Exome Variant Server CPPED1_000047 5/12276 5/8326 0/3950 - - - - - - -
?/? c.290-8T>G r.(=) p.(=) g.12798914A>C Copied from the Exome Variant Server CPPED1_000046 3/12336 3/8342 0/3994 - - - - - - -
?/? c.290-3C>G r.spl? p.? g.12798909G>C Copied from the Exome Variant Server CPPED1_000045 1/12358 1/8352 0/4006 - - - - - - -
?/? c.294G>T r.(?) p.(Lys98Asn) g.12798902C>A Copied from the Exome Variant Server CPPED1_000044 18/12392 15/8358 3/4034 - - - - - - -
?/? c.297G>A r.(=) p.(=) g.12798899C>T Copied from the Exome Variant Server CPPED1_000043 2/12422 2/8376 0/4046 - - - - - - -
?/? c.302G>A r.(?) p.(Arg101Gln) g.12798894C>T Copied from the Exome Variant Server CPPED1_000042 2/12454 1/8394 1/4060 - - - - - - -
?/? c.314C>T r.(?) p.(Thr105Met) g.12798882G>A Copied from the Exome Variant Server CPPED1_000041 69/12526 58/8418 11/4108 - - - - - - -
?/? c.318G>A r.(=) p.(=) g.12798878C>T Copied from the Exome Variant Server CPPED1_000040 1/12560 1/8424 0/4136 - - - - - - -
?/? c.329G>A r.(?) p.(Arg110Gln) g.12798867C>T Copied from the Exome Variant Server CPPED1_000039 21/12594 20/8430 1/4164 - - - - - - -
?/? c.332T>C r.(?) p.(Val111Ala) g.12798864A>G Copied from the Exome Variant Server CPPED1_000038 1/12600 1/8428 0/4172 - - - - - - -
?/? c.333G>A r.(=) p.(=) g.12798863C>T Copied from the Exome Variant Server CPPED1_000037 8/12612 8/8430 0/4182 - - - - - - -
?/? c.352G>T r.(?) p.(Ala118Ser) g.12798844C>A Copied from the Exome Variant Server CPPED1_000036 5/12638 0/8446 5/4192 - - - - - - -
?/? c.405G>A r.(=) p.(=) g.12798791C>T Copied from the Exome Variant Server CPPED1_000035 1/12450 1/8364 0/4086 - - - - - - -
?/? c.418G>A r.(?) p.(Glu140Lys) g.12798778C>T Copied from the Exome Variant Server CPPED1_000034 93/12416 83/8350 10/4066 - - - - - - -
?/? c.431G>A r.(?) p.(Arg144Gln) g.12798765C>T Copied from the Exome Variant Server CPPED1_000033 1/12388 1/8330 0/4058 - - - - - - -
?/? c.461G>T r.(?) p.(Trp154Leu) g.12798735C>A Copied from the Exome Variant Server CPPED1_000032 1/12260 1/8304 0/3956 - - - - - - -
?/? c.472G>A r.(?) p.(Val158Ile) g.12798724C>T Copied from the Exome Variant Server CPPED1_000031 70/12318 1/8320 69/3998 - - - - - - -
?/? c.473T>C r.(?) p.(Val158Ala) g.12798723A>G Copied from the Exome Variant Server CPPED1_000030 1/12320 1/8322 0/3998 - - - - - - -
?/? c.521G>A r.(?) p.(Cys174Tyr) g.12798675C>T Copied from the Exome Variant Server CPPED1_000029 2/12436 2/8398 0/4038 - - - - - - -
?/? c.535C>T r.(?) p.(Gln179*) g.12798661G>A Copied from the Exome Variant Server CPPED1_000028 2/12534 1/8420 1/4114 - - - - - - -
?/? c.573C>A r.(=) p.(=) g.12798623G>T Copied from the Exome Variant Server CPPED1_000027 1/12736 1/8496 0/4240 - - - - - - -
?/? c.575C>T r.(?) p.(Ala192Val) g.12798621G>A Copied from the Exome Variant Server CPPED1_000026 2/12736 0/8492 2/4244 - - - - - - -
?/? c.584G>A r.(?) p.(Arg195Gln) g.12798612C>T Copied from the Exome Variant Server CPPED1_000025 1/12778 1/8510 0/4268 - - - - - - -
?/? c.589T>C r.(?) p.(Cys197Arg) g.12798607A>G Copied from the Exome Variant Server CPPED1_000024 48/12792 41/8516 7/4276 - - - - - - -
?/? c.600C>G r.(=) p.(=) g.12798596G>C Copied from the Exome Variant Server CPPED1_000023 1/12786 1/8520 0/4266 - - - - - - -
?/? c.608T>G r.(?) p.(Phe203Cys) g.12798588A>C Copied from the Exome Variant Server CPPED1_000022 1/12798 1/8524 0/4274 - - - - - - -
?/? c.642C>A r.(?) p.(Asp214Glu) g.12798554G>T Copied from the Exome Variant Server CPPED1_000021 5/12766 0/8514 5/4252 - - - - - - -
?/? c.691T>G r.(?) p.(Leu231Val) g.12798505A>C Copied from the Exome Variant Server CPPED1_000020 4/12548 0/8428 4/4120 - - - - - - -
?/? c.712G>A r.(?) p.(Ala238Thr) g.12798484C>T Copied from the Exome Variant Server CPPED1_000019 1/12322 1/8344 0/3978 - - - - - - -
?/? c.715+12G>A r.(=) p.(=) g.12798469C>T Copied from the Exome Variant Server CPPED1_000018 9/12104 0/8266 9/3838 - - - - - - -
?/? c.715+18C>T r.(=) p.(=) g.12798463G>A Copied from the Exome Variant Server CPPED1_000017 1/12094 0/8250 1/3844 - - - - - - -
?/? c.715+45A>G r.(=) p.(=) g.12798436T>C Copied from the Exome Variant Server CPPED1_000016 1/12082 0/8252 1/3830 - - - - - - -
?/? c.722A>G r.(?) p.(Lys241Arg) g.12758966T>C Copied from the Exome Variant Server CPPED1_000015 10899/12312 7880/8348 3019/3964 - - - - - - -
?/? c.735A>T r.(=) p.(=) g.12758953T>A Copied from the Exome Variant Server CPPED1_000014 1/12336 1/8364 0/3972 - - - - - - -
?/? c.829G>A r.(?) p.(Gly277Arg) g.12758859C>T Copied from the Exome Variant Server CPPED1_000013 5/12076 5/8254 0/3822 - - - - - - -
?/? c.841G>A r.(?) p.(Val281Met) g.12758847C>T Copied from the Exome Variant Server CPPED1_000012 2/12050 0/8238 2/3812 - - - - - - -
?/? c.843G>A r.(=) p.(=) g.12758845C>T Copied from the Exome Variant Server CPPED1_000011 1/12052 0/8244 1/3808 - - - - - - -
?/? c.853G>A r.(?) p.(Ala285Thr) g.12758835C>T Copied from the Exome Variant Server CPPED1_000010 2/12026 2/8234 0/3792 - - - - - - -
?/? c.856G>A r.(?) p.(Glu286Lys) g.12758832C>T Copied from the Exome Variant Server CPPED1_000009 1/12010 1/8228 0/3782 - - - - - - -
?/? c.872G>A r.(?) p.(Arg291Gln) g.12758816C>T Copied from the Exome Variant Server CPPED1_000008 1/12004 1/8230 0/3774 - - - - - - -
?/? c.878A>G r.(?) p.(Tyr293Cys) g.12758810T>C Copied from the Exome Variant Server CPPED1_000007 1/11996 1/8226 0/3770 - - - - - - -
?/? c.879C>T r.(=) p.(=) g.12758809G>A Copied from the Exome Variant Server CPPED1_000006 1/11996 0/8226 1/3770 - - - - - - -
?/? c.916G>C r.(?) p.(Asp306His) g.12758772C>G Copied from the Exome Variant Server CPPED1_000005 1/12032 0/8246 1/3786 - - - - - - -
?/? c.*11C>T r.(=) p.(=) g.12758732G>A Copied from the Exome Variant Server CPPED1_000004 1/11964 1/8212 0/3752 - - - - - - -
?/? c.*12G>A r.(=) p.(=) g.12758731C>T Copied from the Exome Variant Server CPPED1_000003 1/11954 1/8208 0/3746 - - - - - - -
?/? c.*18G>A r.(=) p.(=) g.12758725C>T Copied from the Exome Variant Server CPPED1_000002 11/11934 1/8208 10/3726 - - - - - - -
?/? c.*16_*21del r.(=) p.(=) g.12758722_12758727del Copied from the Exome Variant Server CPPED1_000001 13/11440 2/7846 11/3594 - - - - - - -
Legend