Full data view for gene RAVER1

Information The variants shown are described using the NM_133452.2 transcript reference sequence.

119 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-30A>C r.(=) p.(=) g.10444264T>G Copied from the Exome Variant Server RAVER1_000119 9/11530 0/7890 9/3640 - - - - - - -
?/? c.-17G>A r.(=) p.(=) g.10444251C>T Copied from the Exome Variant Server RAVER1_000118 54/11648 1/7980 53/3668 - - - - - - -
?/? c.69C>T r.(=) p.(=) g.10444166G>A Copied from the Exome Variant Server RAVER1_000117 425/11882 363/8160 62/3722 - - - - - - -
?/? c.73A>T r.(?) p.(Thr25Ser) g.10444162T>A Copied from the Exome Variant Server RAVER1_000116 1/11868 1/8158 0/3710 - - - - - - -
?/? c.86C>A r.(?) p.(Pro29Gln) g.10444149G>T Copied from the Exome Variant Server RAVER1_000115 3/11806 0/8138 3/3668 - - - - - - -
?/? c.115G>A r.(?) p.(Glu39Lys) g.10444120C>T Copied from the Exome Variant Server RAVER1_000114 10/11792 9/8132 1/3660 - - - - - - -
?/? c.161C>T r.(?) p.(Pro54Leu) g.10444074G>A Copied from the Exome Variant Server RAVER1_000113 30/11840 28/8150 2/3690 - - - - - - -
?/? c.218G>A r.(?) p.(Arg73His) g.10444017C>T Copied from the Exome Variant Server RAVER1_000112 2/11856 2/8162 0/3694 - - - - - - -
?/? c.243G>C r.(=) p.(=) g.10443992C>G Copied from the Exome Variant Server RAVER1_000111 27/11850 0/8178 27/3672 - - - - - - -
?/? c.254G>A r.(?) p.(Gly85Glu) g.10443981C>T Copied from the Exome Variant Server RAVER1_000110 20/11866 1/8176 19/3690 - - - - - - -
?/? c.270+4T>C r.spl? p.? g.10443961A>G Copied from the Exome Variant Server RAVER1_000109 88/11846 0/8162 88/3684 - - - - - - -
?/? c.270+7G>T r.(=) p.(=) g.10443958C>A Copied from the Exome Variant Server RAVER1_000108 3/11842 3/8166 0/3676 - - - - - - -
?/? c.270+13del r.(=) p.(=) g.10443952del Copied from the Exome Variant Server RAVER1_000107 191/11354 91/7814 100/3540 - - - - - - -
?/? c.270+13dup r.(=) p.(=) g.10443952dup Copied from the Exome Variant Server RAVER1_000106 87/11354 49/7814 38/3540 - - - - - - -
?/? c.270+42C>A r.(=) p.(=) g.10443923G>T Copied from the Exome Variant Server RAVER1_000105 1/11920 1/8174 0/3746 - - - - - - -
?/? c.270+49C>T r.(=) p.(=) g.10443916G>A Copied from the Exome Variant Server RAVER1_000104 1/11882 0/8138 1/3744 - - - - - - -
?/? c.271-6C>T r.(=) p.(=) g.10441208G>A Copied from the Exome Variant Server RAVER1_000103 1/12044 0/8218 1/3826 - - - - - - -
?/? c.316G>A r.(?) p.(Val106Met) g.10441157C>T Copied from the Exome Variant Server RAVER1_000102 1/12044 1/8228 0/3816 - - - - - - -
?/? c.337+9G>A r.(=) p.(=) g.10441127C>T Copied from the Exome Variant Server RAVER1_000101 1/12072 1/8236 0/3836 - - - - - - -
?/? c.337+19C>T r.(=) p.(=) g.10441117G>A Copied from the Exome Variant Server RAVER1_000100 1752/12074 1525/8230 227/3844 - - - - - - -
?/? c.337+43C>A r.(=) p.(=) g.10441093G>T Copied from the Exome Variant Server RAVER1_000099 11/12140 11/8224 0/3916 - - - - - - -
?/? c.337+63G>A r.(=) p.(=) g.10441073C>T Copied from the Exome Variant Server RAVER1_000098 131/4566 118/3182 13/1384 - - - - - - -
?/? c.375C>T r.(=) p.(=) g.10439750G>A Copied from the Exome Variant Server RAVER1_000097 2/12578 0/8356 2/4222 - - - - - - -
?/? c.401G>A r.(?) p.(Arg134His) g.10439724C>T Copied from the Exome Variant Server RAVER1_000096 19/12768 18/8456 1/4312 - - - - - - -
?/? c.413G>A r.(?) p.(Arg138His) g.10439712C>T Copied from the Exome Variant Server RAVER1_000095 1/12778 0/8470 1/4308 - - - - - - -
?/? c.414T>C r.(=) p.(=) g.10439711A>G Copied from the Exome Variant Server RAVER1_000094 338/12780 246/8470 92/4310 - - - - - - -
?/? c.425T>C r.(?) p.(Val142Ala) g.10439700A>G Copied from the Exome Variant Server RAVER1_000093 1/12816 1/8492 0/4324 - - - - - - -
?/? c.432G>A r.(=) p.(=) g.10439693C>T Copied from the Exome Variant Server RAVER1_000092 4/12800 2/8482 2/4318 - - - - - - -
?/? c.441G>A r.(=) p.(=) g.10439684C>T Copied from the Exome Variant Server RAVER1_000091 2/12822 2/8490 0/4332 - - - - - - -
?/? c.495C>T r.(=) p.(=) g.10439630G>A Copied from the Exome Variant Server RAVER1_000090 1/12672 1/8448 0/4224 - - - - - - -
?/? c.496G>A r.(?) p.(Glu166Lys) g.10439629C>T Copied from the Exome Variant Server RAVER1_000089 1/12670 1/8440 0/4230 - - - - - - -
?/? c.509G>A r.(?) p.(Arg170Gln) g.10439616C>T Copied from the Exome Variant Server RAVER1_000088 2/12664 2/8440 0/4224 - - - - - - -
?/? c.549T>A r.(?) p.(Ser183Arg) g.10439576A>T Copied from the Exome Variant Server RAVER1_000087 1/12672 0/8458 1/4214 - - - - - - -
?/? c.553C>T r.(?) p.(Arg185Cys) g.10439572G>A Copied from the Exome Variant Server RAVER1_000086 1/12684 0/8464 1/4220 - - - - - - -
?/? c.554G>A r.(?) p.(Arg185His) g.10439571C>T Copied from the Exome Variant Server RAVER1_000085 3/12684 3/8470 0/4214 - - - - - - -
?/? c.562C>G r.(?) p.(Gln188Glu) g.10439563G>C Copied from the Exome Variant Server RAVER1_000084 1/12652 1/8458 0/4194 - - - - - - -
?/? c.585T>C r.(=) p.(=) g.10439540A>G Copied from the Exome Variant Server RAVER1_000083 371/12718 274/8478 97/4240 - - - - - - -
?/? c.607G>A r.(?) p.(Ala203Thr) g.10439518C>T Copied from the Exome Variant Server RAVER1_000082 1/12756 0/8482 1/4274 - - - - - - -
?/? c.613C>T r.(?) p.(Arg205Cys) g.10439512G>A Copied from the Exome Variant Server RAVER1_000081 1/12752 1/8476 0/4276 - - - - - - -
?/? c.624G>A r.(=) p.(=) g.10439501C>T Copied from the Exome Variant Server RAVER1_000080 315/12792 275/8498 40/4294 - - - - - - -
?/? c.712C>T r.(?) p.(Arg238Cys) g.10439413G>A Copied from the Exome Variant Server RAVER1_000079 1/12874 1/8522 0/4352 - - - - - - -
?/? c.747C>T r.(=) p.(=) g.10439378G>A Copied from the Exome Variant Server RAVER1_000078 1/12802 0/8490 1/4312 - - - - - - -
?/? c.756G>A r.(=) p.(=) g.10439369C>T Copied from the Exome Variant Server RAVER1_000077 1/12774 1/8482 0/4292 - - - - - - -
?/? c.760G>A r.(?) p.(Ala254Thr) g.10439365C>T Copied from the Exome Variant Server RAVER1_000076 1/12734 1/8478 0/4256 - - - - - - -
?/? c.773C>T r.(?) p.(Ala258Val) g.10439352G>A Copied from the Exome Variant Server RAVER1_000075 1/12564 0/8392 1/4172 - - - - - - -
?/? c.774G>A r.(=) p.(=) g.10439351C>T Copied from the Exome Variant Server RAVER1_000074 8/12532 0/8376 8/4156 - - - - - - -
?/? c.797C>T r.(?) p.(Thr266Ile) g.10439328G>A Copied from the Exome Variant Server RAVER1_000073 1/12228 1/8224 0/4004 - - - - - - -
?/? c.807+20T>C r.(=) p.(=) g.10439298A>G Copied from the Exome Variant Server RAVER1_000072 214/11702 194/7938 20/3764 - - - - - - -
?/? c.807+31del r.(=) p.(=) g.10439287del Copied from the Exome Variant Server RAVER1_000071 5/10982 2/7442 3/3540 - - - - - - -
?/? c.808-49G>A r.(=) p.(=) g.10434291C>T Copied from the Exome Variant Server RAVER1_000070 2/12916 2/8542 0/4374 - - - - - - -
?/? c.815G>T r.(?) p.(Cys272Phe) g.10434235C>A Copied from the Exome Variant Server RAVER1_000069 1/12920 1/8546 0/4374 - - - - - - -
?/? c.843C>T r.(=) p.(=) g.10434207G>A Copied from the Exome Variant Server RAVER1_000068 1/12916 1/8552 0/4364 - - - - - - -
?/? c.864G>A r.(=) p.(=) g.10434186C>T Copied from the Exome Variant Server RAVER1_000067 1/12894 1/8544 0/4350 - - - - - - -
?/? c.897G>A r.(=) p.(=) g.10434153C>T Copied from the Exome Variant Server RAVER1_000066 4/12778 4/8484 0/4294 - - - - - - -
?/? c.914G>C r.(?) p.(Gly305Ala) g.10434136C>G Copied from the Exome Variant Server RAVER1_000065 1/12608 0/8420 1/4188 - - - - - - -
?/? c.999+25C>T r.(=) p.(=) g.10434026G>A Copied from the Exome Variant Server RAVER1_000064 2/12266 0/8304 2/3962 - - - - - - -
?/? c.999+48G>A r.(=) p.(=) g.10434003C>T Copied from the Exome Variant Server RAVER1_000063 2/12356 2/8334 0/4022 - - - - - - -
?/? c.1000-33G>A r.(=) p.(=) g.10433983C>T Copied from the Exome Variant Server RAVER1_000062 1/12474 1/8370 0/4104 - - - - - - -
?/? c.1037A>G r.(?) p.(Asn346Ser) g.10433913T>C Copied from the Exome Variant Server RAVER1_000061 2/12488 0/8394 2/4094 - - - - - - -
?/? c.1072G>T r.(?) p.(Ala358Ser) g.10433878C>A Copied from the Exome Variant Server RAVER1_000060 1/12456 0/8380 1/4076 - - - - - - -
?/? c.1073C>T r.(?) p.(Ala358Val) g.10433877G>A Copied from the Exome Variant Server RAVER1_000059 1/12456 1/8380 0/4076 - - - - - - -
?/? c.1115C>T r.(?) p.(Ala372Val) g.10433835G>A Copied from the Exome Variant Server RAVER1_000058 2/12302 0/8324 2/3978 - - - - - - -
?/? c.1130-42_1130-32del r.(=) p.(=) g.10433447_10433457del Copied from the Exome Variant Server RAVER1_000057 14/11628 0/7818 14/3810 - - - - - - -
?/? c.1143C>T r.(=) p.(=) g.10433402G>A Copied from the Exome Variant Server RAVER1_000056 8/12386 8/8318 0/4068 - - - - - - -
?/? c.1148_1149insC r.(?) p.(Ala384Serfs*83) g.10433396_10433397insG Copied from the Exome Variant Server RAVER1_000055 41/11774 20/7936 21/3838 - - - - - - -
?/? c.1166A>G r.(?) p.(Asn389Ser) g.10433379T>C Copied from the Exome Variant Server RAVER1_000054 32/12498 4/8374 28/4124 - - - - - - -
?/? c.1185G>A r.(=) p.(=) g.10433360C>T Copied from the Exome Variant Server RAVER1_000053 255/12546 227/8402 28/4144 - - - - - - -
?/? c.1188G>A r.(=) p.(=) g.10433357C>T Copied from the Exome Variant Server RAVER1_000052 304/12560 1/8406 303/4154 - - - - - - -
?/? c.1208A>G r.(?) p.(Gln403Arg) g.10433337T>C Copied from the Exome Variant Server RAVER1_000051 1/12542 1/8390 0/4152 - - - - - - -
?/? c.1224+8_1224+9del r.(=) p.(=) g.10433312_10433313del Copied from the Exome Variant Server RAVER1_000050 41/11960 26/7994 15/3966 - - - - - - -
?/? c.1224+25A>G r.(=) p.(=) g.10433296T>C Copied from the Exome Variant Server RAVER1_000049 1/12384 0/8322 1/4062 - - - - - - -
?/? c.1224+38C>T r.(=) p.(=) g.10433283G>A Copied from the Exome Variant Server RAVER1_000048 1/12282 1/8290 0/3992 - - - - - - -
?/? c.1225-48C>T r.(=) p.(=) g.10432342G>A Copied from the Exome Variant Server RAVER1_000047 1/12524 0/8388 1/4136 - - - - - - -
?/? c.1225-40A>C r.(=) p.(=) g.10432334T>G Copied from the Exome Variant Server RAVER1_000046 1430/12512 1158/8376 272/4136 - - - - - - -
?/? c.1225-31C>A r.(=) p.(=) g.10432325G>T Copied from the Exome Variant Server RAVER1_000045 54/12470 0/8362 54/4108 - - - - - - -
?/? c.1234A>G r.(?) p.(Ile412Val) g.10432285T>C Copied from the Exome Variant Server RAVER1_000044 1/12330 1/8310 0/4020 - - - - - - -
?/? c.1246T>A r.(?) p.(Ser416Thr) g.10432273A>T Copied from the Exome Variant Server RAVER1_000043 2/12292 0/8310 2/3982 - - - - - - -
?/? c.1257C>T r.(=) p.(=) g.10432262G>A Copied from the Exome Variant Server RAVER1_000042 1/12256 1/8296 0/3960 - - - - - - -
?/? c.1294C>G r.(?) p.(Leu432Val) g.10432225G>C Copied from the Exome Variant Server RAVER1_000041 1/12314 0/8324 1/3990 - - - - - - -
?/? c.1297G>A r.(?) p.(Gly433Arg) g.10432222C>T Copied from the Exome Variant Server RAVER1_000040 4/12424 3/8360 1/4064 - - - - - - -
?/? c.1312+22C>T r.(=) p.(=) g.10432185G>A Copied from the Exome Variant Server RAVER1_000039 4/12632 4/8418 0/4214 - - - - - - -
?/? c.1365G>A r.(=) p.(=) g.10431883C>T Copied from the Exome Variant Server RAVER1_000038 16/9108 14/6338 2/2770 - - - - - - -
?/? c.1449C>A r.(=) p.(=) g.10431799G>T Copied from the Exome Variant Server RAVER1_000037 1562/8570 1100/6046 462/2524 - - - - - - -
?/? c.1525-16T>C r.(=) p.(=) g.10431643A>G Copied from the Exome Variant Server RAVER1_000036 2/11770 2/8056 0/3714 - - - - - - -
?/? c.1525-10C>G r.(=) p.(=) g.10431637G>C Copied from the Exome Variant Server RAVER1_000035 2/11774 0/8054 2/3720 - - - - - - -
?/? c.1602G>A r.(=) p.(=) g.10431550C>T Copied from the Exome Variant Server RAVER1_000034 1/11742 1/8110 0/3632 - - - - - - -
?/? c.1718_1720del r.(?) p.(Ser573del) g.10431432_10431434del Copied from the Exome Variant Server RAVER1_000033 249/9874 176/6810 73/3064 - - - - - - -
?/? c.1808T>C r.(?) p.(Phe603Ser) g.10431344A>G Copied from the Exome Variant Server RAVER1_000032 3/12254 3/8310 0/3944 - - - - - - -
?/? c.1810G>A r.(?) p.(Asp604Asn) g.10431342C>T Copied from the Exome Variant Server RAVER1_000031 1/12278 1/8320 0/3958 - - - - - - -
?/? c.1821+7G>A r.(=) p.(=) g.10431324C>T Copied from the Exome Variant Server RAVER1_000030 1/12304 1/8322 0/3982 - - - - - - -
?/? c.1821+12G>C r.(=) p.(=) g.10431319C>G Copied from the Exome Variant Server RAVER1_000029 20/12284 0/8310 20/3974 - - - - - - -
?/? c.1821+30_1821+31insC r.(=) p.(=) g.10431300_10431301insG Copied from the Exome Variant Server RAVER1_000028 1741/11634 1174/7872 567/3762 - - - - - - -
?/? c.1822-44T>C r.(=) p.(=) g.10429960A>G Copied from the Exome Variant Server RAVER1_000027 1/12486 1/8406 0/4080 - - - - - - -
?/? c.1822-13C>T r.(=) p.(=) g.10429929G>A Copied from the Exome Variant Server RAVER1_000026 1/12426 1/8388 0/4038 - - - - - - -
?/? c.1822-11C>T r.(=) p.(=) g.10429927G>A Copied from the Exome Variant Server RAVER1_000025 1/12416 1/8374 0/4042 - - - - - - -
?/? c.1879G>A r.(?) p.(Gly627Arg) g.10429859C>T Copied from the Exome Variant Server RAVER1_000024 13/12208 12/8276 1/3932 - - - - - - -
?/? c.1889G>A r.(?) p.(Arg630Gln) g.10429849C>T Copied from the Exome Variant Server RAVER1_000023 1/12190 1/8272 0/3918 - - - - - - -
?/? c.1896+11C>A r.(=) p.(=) g.10429831G>T Copied from the Exome Variant Server RAVER1_000022 56/12224 1/8298 55/3926 - - - - - - -
?/? c.1923C>T r.(=) p.(=) g.10429022G>A Copied from the Exome Variant Server RAVER1_000021 1/11790 0/8056 1/3734 - - - - - - -
?/? c.1928G>A r.(?) p.(Arg643Gln) g.10429017C>T Copied from the Exome Variant Server RAVER1_000019 1/11720 1/8002 0/3718 - - - - - - -
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