Full data view for gene RANBP2

Information The variants shown are described using the NM_006267.4 transcript reference sequence.

411 entries on 5 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.-50C>T r.(=) p.(=) g.109336013C>T Copied from the Exome Variant Server RANBP2_000001 1/12914 1/8546 0/4368 - - - - - - -
?/? c.-45C>T r.(=) p.(=) g.109336018C>T Copied from the Exome Variant Server RANBP2_000002 309/12940 280/8562 29/4378 - - - - - - -
?/? c.-41G>T r.(=) p.(=) g.109336022G>T Copied from the Exome Variant Server RANBP2_000003 42/12956 40/8564 2/4392 - - - - - - -
?/? c.-28G>A r.(=) p.(=) g.109336035G>A Copied from the Exome Variant Server RANBP2_000004 1/12984 1/8584 0/4400 - - - - - - -
?/? c.-21del r.(=) p.(=) g.109336042del Copied from the Exome Variant Server RANBP2_000005 81/12500 46/8242 35/4258 - - - - - - -
?/? c.-11T>C r.(=) p.(=) g.109336052T>C Copied from the Exome Variant Server RANBP2_000006 1/13002 0/8596 1/4406 - - - - - - -
?/? c.-6G>A r.(=) p.(=) g.109336057G>A Copied from the Exome Variant Server RANBP2_000007 1/13002 0/8596 1/4406 - - - - - - -
?/? c.-1G>C r.(=) p.(=) g.109336062G>C Copied from the Exome Variant Server RANBP2_000008 1/13004 1/8598 0/4406 - - - - - - -
?/? c.9C>T r.(=) p.(=) g.109336071C>T Copied from the Exome Variant Server RANBP2_000009 1/13004 1/8598 0/4406 - - - - - - -
?/? c.20A>C r.(?) p.(Asp7Ala) g.109336082A>C Copied from the Exome Variant Server RANBP2_000010 3/13004 3/8598 0/4406 - - - - - - -
?/? c.22G>C r.(?) p.(Val8Leu) g.109336084G>C Copied from the Exome Variant Server RANBP2_000011 1/13004 0/8598 1/4406 - - - - - - -
?/? c.41C>T r.(?) p.(Ser14Leu) g.109336103C>T Copied from the Exome Variant Server RANBP2_000012 1/13004 1/8598 0/4406 - - - - - - -
?/? c.72+11C>G r.(=) p.(=) g.109336145C>G Copied from the Exome Variant Server RANBP2_000013 619/12998 11/8596 608/4402 - - - - - - -
?/? c.72+30T>G r.(=) p.(=) g.109336164T>G Copied from the Exome Variant Server RANBP2_000014 1/12932 1/8548 0/4384 - - - - - - -
?/? c.73-16_73-15del r.(=) p.(=) g.109345572_109345573del Copied from the Exome Variant Server RANBP2_000016 96/10898 68/7156 28/3742 - - - - - - -
?/? c.92A>G r.(?) p.(Tyr31Cys) g.109345607A>G Copied from the Exome Variant Server RANBP2_000018 2/7020 2/4454 0/2566 - - - - - - -
?/? c.140+23_140+24insT r.(=) p.(=) g.109345678_109345679insT Copied from the Exome Variant Server RANBP2_000021 95/11068 23/7248 72/3820 - - - - - - -
?/? c.140+34A>T r.(=) p.(=) g.109345689A>T Copied from the Exome Variant Server RANBP2_000024 230/7002 14/4452 216/2550 - - - - - - -
?/? c.140+34del r.(=) p.(=) g.109345689del Copied from the Exome Variant Server RANBP2_000022 358/11058 21/7238 337/3820 - - - - - - -
?/? c.141-25C>G r.(=) p.(=) g.109347205C>G Copied from the Exome Variant Server RANBP2_000026 3/7054 3/4578 0/2476 - - - - - - -
?/? c.182A>C r.(?) p.(Lys61Thr) g.109347271A>C Copied from the Exome Variant Server RANBP2_000028 1/7766 0/4922 1/2844 - - - - - - -
?/? c.225C>G r.(?) p.(Asn75Lys) g.109347314C>G Copied from the Exome Variant Server RANBP2_000030 19/8088 0/5138 19/2950 - - - - - - -
?/? c.238G>A r.(?) p.(Val80Ile) g.109347327G>A Copied from the Exome Variant Server RANBP2_000032 6/8084 6/5134 0/2950 - - - - - - -
?/? c.252+30G>A r.(=) p.(=) g.109347371G>A Copied from the Exome Variant Server RANBP2_000015 3/7780 2/4920 1/2860 - - - - - - -
?/? c.253-18_253-15del r.(=) p.(=) g.109347760_109347763del Copied from the Exome Variant Server RANBP2_000017 6/12142 4/8114 2/4028 - - - - - - -
?/? c.254G>A r.(?) p.(Arg85His) g.109347779G>A Copied from the Exome Variant Server RANBP2_000019 2/12944 0/8552 2/4392 - - - - - - -
?/? c.302C>T r.(?) p.(Ala101Val) g.109347827C>T Copied from the Exome Variant Server RANBP2_000020 1/12996 0/8590 1/4406 - - - - - - -
?/? c.324T>C r.(=) p.(=) g.109347849T>C Copied from the Exome Variant Server RANBP2_000023 1/13004 0/8598 1/4406 - - - - - - -
?/? c.342A>T r.(=) p.(=) g.109347867A>T Copied from the Exome Variant Server RANBP2_000025 2/13004 2/8598 0/4406 - - - - - - -
?/? c.405+3_405+6del r.spl? p.? g.109347933_109347936del Copied from the Exome Variant Server RANBP2_000027 12/12504 4/8242 8/4262 - - - - - - -
?/? c.405+17T>G r.(=) p.(=) g.109347947T>G Copied from the Exome Variant Server RANBP2_000029 5084/12988 2057/8586 3027/4402 - - - - - - -
?/? c.405+35G>T r.(=) p.(=) g.109347965G>T Copied from the Exome Variant Server RANBP2_000031 1/12964 1/8572 0/4392 - - - - - - -
?/? c.406-35_406-34insA r.(=) p.(=) g.109351953_109351954insA Copied from the Exome Variant Server RANBP2_000033 309/10774 1/7206 308/3568 - - - - - - -
?/? c.492C>T r.(=) p.(=) g.109352074C>T Copied from the Exome Variant Server RANBP2_000034 2/7252 0/4554 2/2698 - - - - - - -
?/? c.493G>A r.(?) p.(Val165Ile) g.109352075G>A Copied from the Exome Variant Server RANBP2_000035 2/7262 2/4560 0/2702 - - - - - - -
?/? c.543G>A r.(=) p.(=) g.109352125G>A Copied from the Exome Variant Server RANBP2_000036 2/7304 0/4586 2/2718 - - - - - - -
?/? c.592C>T r.(?) p.(Arg198Cys) g.109352174C>T Copied from the Exome Variant Server RANBP2_000037 1/7294 0/4588 1/2706 - - - - - - -
?/? c.636+8A>C r.(=) p.(=) g.109352226A>C Copied from the Exome Variant Server RANBP2_000038 1/7252 0/4554 1/2698 - - - - - - -
?/? c.636+40C>T r.(=) p.(=) g.109352258C>T Copied from the Exome Variant Server RANBP2_000039 57/7178 51/4528 6/2650 - - - - - - -
?/? c.637-51_637-49del r.(=) p.(=) g.109352509_109352511del Copied from the Exome Variant Server RANBP2_000040 11/12206 2/8138 9/4068 - - - - - - -
?/? c.637-34A>G r.(=) p.(=) g.109352526A>G Copied from the Exome Variant Server RANBP2_000041 1/12770 1/8546 0/4224 - - - - - - -
?/? c.637-18G>A r.(=) p.(=) g.109352542G>A Copied from the Exome Variant Server RANBP2_000042 4129/12842 1666/8576 2463/4266 - - - - - - -
?/? c.637-4A>G r.spl? p.? g.109352556A>G Copied from the Exome Variant Server RANBP2_000043 1/12876 1/8586 0/4290 - - - - - - -
?/? c.694A>G r.(?) p.(Asn232Asp) g.109352617A>G Copied from the Exome Variant Server RANBP2_000044 2/12966 2/8562 0/4404 - - - - - - -
?/? c.702C>G r.(?) p.(Asp234Glu) g.109352625C>G Copied from the Exome Variant Server RANBP2_000045 2/12966 2/8562 0/4404 - - - - - - -
?/? c.717T>C r.(=) p.(=) g.109352640T>C Copied from the Exome Variant Server RANBP2_000046 1/13000 1/8594 0/4406 - - - - - - -
?/? c.728T>C r.(?) p.(Met243Thr) g.109352651T>C Copied from the Exome Variant Server RANBP2_000047 57/13000 1/8594 56/4406 - - - - - - -
?/? c.732T>G r.(=) p.(=) g.109352655T>G Copied from the Exome Variant Server RANBP2_000048 1/13000 0/8594 1/4406 - - - - - - -
?/? c.745A>G r.(?) p.(Thr249Ala) g.109352668A>G Copied from the Exome Variant Server RANBP2_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.752A>T r.(?) p.(Asp251Val) g.109352675A>T Copied from the Exome Variant Server RANBP2_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.767G>T r.(?) p.(Arg256Ile) g.109352690G>T Copied from the Exome Variant Server RANBP2_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.782+13T>C r.(=) p.(=) g.109352718T>C Copied from the Exome Variant Server RANBP2_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.782+21A>C r.(=) p.(=) g.109352726A>C Copied from the Exome Variant Server RANBP2_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.782+31A>G r.(=) p.(=) g.109352736A>G Copied from the Exome Variant Server RANBP2_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.782+32T>G r.(=) p.(=) g.109352737T>G Copied from the Exome Variant Server RANBP2_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.782+39C>T r.(=) p.(=) g.109352744C>T Copied from the Exome Variant Server RANBP2_000060 2101/13006 1453/8600 648/4406 - - - - - - -
?/? c.782+41_782+42insT r.(=) p.(=) g.109352746_109352747insT Copied from the Exome Variant Server RANBP2_000063 15/12520 13/8254 2/4266 - - - - - - -
?/? c.782+47_782+48insT r.(=) p.(=) g.109352752_109352753insT Copied from the Exome Variant Server RANBP2_000065 84/12516 1/8252 83/4264 - - - - - - -
?/? c.783-35_783-34del r.(=) p.(=) g.109356910_109356911del Copied from the Exome Variant Server RANBP2_000067 5/11374 3/7436 2/3938 - - - - - - -
?/? c.783-27T>C r.(=) p.(=) g.109356918T>C Copied from the Exome Variant Server RANBP2_000069 12/11844 1/7764 11/4080 - - - - - - -
?/? c.783-23_783-20del r.(=) p.(=) g.109356922_109356925del Copied from the Exome Variant Server RANBP2_000071 7/11402 3/7446 4/3956 - - - - - - -
?/? c.783-14T>A r.(=) p.(=) g.109356931T>A Copied from the Exome Variant Server RANBP2_000073 1/11862 0/7768 1/4094 - - - - - - -
?/? c.783-6T>C r.(=) p.(=) g.109356939T>C Copied from the Exome Variant Server RANBP2_000075 13/11876 11/7776 2/4100 - - - - - - -
?/? c.806T>C r.(?) p.(Val269Ala) g.109356968T>C Copied from the Exome Variant Server RANBP2_000077 89/11876 5/7776 84/4100 - - - - - - -
?/? c.816G>C r.(?) p.(Leu272Phe) g.109356978G>C Copied from the Exome Variant Server RANBP2_000079 94/11882 82/7780 12/4102 - - - - - - -
?/? c.834G>A r.(=) p.(=) g.109356996G>A Copied from the Exome Variant Server RANBP2_000081 1/11876 1/7782 0/4094 - - - - - - -
?/? c.861A>G r.(=) p.(=) g.109357023A>G Copied from the Exome Variant Server RANBP2_000083 1/11886 0/7778 1/4108 - - - - - - -
?/? c.873G>A r.(?) p.(Met291Ile) g.109357035G>A Copied from the Exome Variant Server RANBP2_000085 2/11894 0/7788 2/4106 - - - - - - -
?/? c.950C>G r.(?) p.(Ala317Gly) g.109357112C>G Copied from the Exome Variant Server RANBP2_000087 1/11878 0/7788 1/4090 - - - - - - -
?/? c.964A>G r.(?) p.(Ile322Val) g.109357126A>G Copied from the Exome Variant Server RANBP2_000089 1/11860 0/7772 1/4088 - - - - - - -
?/? c.975+4A>G r.spl? p.? g.109357141A>G Copied from the Exome Variant Server RANBP2_000091 1/11888 0/7788 1/4100 - - - - - - -
?/? c.975+15T>C r.(=) p.(=) g.109357152T>C Copied from the Exome Variant Server RANBP2_000093 1/11894 0/7794 1/4100 - - - - - - -
?/? c.975+36A>T r.(=) p.(=) g.109357173A>T Copied from the Exome Variant Server RANBP2_000095 1/11912 0/7814 1/4098 - - - - - - -
?/? c.975+38T>G r.(=) p.(=) g.109357175T>G Copied from the Exome Variant Server RANBP2_000052 118/11912 105/7814 13/4098 - - - - - - -
?/? c.975+51G>A r.(=) p.(=) g.109357188G>A Copied from the Exome Variant Server RANBP2_000055 4/11922 4/7818 0/4104 - - - - - - -
?/? c.1064-44C>A r.(=) p.(=) g.109365332C>A Copied from the Exome Variant Server RANBP2_000057 43/12976 0/8590 43/4386 - - - - - - -
?/? c.1064-21_1064-17del r.(=) p.(=) g.109365355_109365359del Copied from the Exome Variant Server RANBP2_000059 11/12498 6/8248 5/4250 - - - - - - -
?/? c.1064-16T>G r.(=) p.(=) g.109365360T>G Copied from the Exome Variant Server RANBP2_000061 1/12990 0/8588 1/4402 - - - - - - -
?/? c.1064-13A>T r.(=) p.(=) g.109365363A>T Copied from the Exome Variant Server RANBP2_000062 168/12990 1/8588 167/4402 - - - - - - -
?/? c.1064-8T>G r.(=) p.(=) g.109365368T>G Copied from the Exome Variant Server RANBP2_000064 1/12986 1/8586 0/4400 - - - - - - -
?/? c.1087C>T r.(?) p.(Arg363Cys) g.109365399C>T Copied from the Exome Variant Server RANBP2_000066 78/13004 1/8600 77/4404 - - - - - - -
?/? c.1097A>C r.(?) p.(Gln366Pro) g.109365409A>C Copied from the Exome Variant Server RANBP2_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1108A>G r.(?) p.(Lys370Glu) g.109365420A>G Copied from the Exome Variant Server RANBP2_000070 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1133A>G r.(?) p.(Asn378Ser) g.109365445A>G Copied from the Exome Variant Server RANBP2_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1179G>A r.(=) p.(=) g.109365491G>A Copied from the Exome Variant Server RANBP2_000074 1/13000 0/8594 1/4406 - - - - - - -
?/? c.1190A>G r.(?) p.(Asp397Gly) g.109365502A>G Copied from the Exome Variant Server RANBP2_000076 1/13000 1/8594 0/4406 - - - - - - -
?/? c.1204G>C r.(?) p.(Gly402Arg) g.109365516G>C Copied from the Exome Variant Server RANBP2_000078 1/13000 0/8594 1/4406 - - - - - - -
?/? c.1209C>T r.(=) p.(=) g.109365521C>T Copied from the Exome Variant Server RANBP2_000080 124/13000 2/8594 122/4406 - - - - - - -
?/? c.1210G>A r.(?) p.(Asp404Asn) g.109365522G>A Copied from the Exome Variant Server RANBP2_000082 1/13002 0/8596 1/4406 - - - - - - -
?/? c.1218T>C r.(=) p.(=) g.109365530T>C Copied from the Exome Variant Server RANBP2_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1231G>A r.(?) p.(Val411Ile) g.109365543G>A Copied from the Exome Variant Server RANBP2_000086 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1269T>C r.(=) p.(=) g.109365581T>C Copied from the Exome Variant Server RANBP2_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1273+9T>C r.(=) p.(=) g.109365594T>C Copied from the Exome Variant Server RANBP2_000090 1/13002 0/8596 1/4406 - - - - - - -
?/? c.1274-28del r.(=) p.(=) g.109367692del Copied from the Exome Variant Server RANBP2_000092 4/12440 4/8210 0/4230 - - - - - - -
?/? c.1284A>G r.(=) p.(=) g.109367730A>G Copied from the Exome Variant Server RANBP2_000094 8/8410 8/5406 0/3004 - - - - - - -
?/? c.1456-27A>G r.(=) p.(=) g.109367957A>G Copied from the Exome Variant Server RANBP2_000096 1/8244 0/5356 1/2888 - - - - - - -
?/? c.1456-24T>G r.(=) p.(=) g.109367960T>G Copied from the Exome Variant Server RANBP2_000097 4/8214 0/5346 4/2868 - - - - - - -
?/? c.1535C>T r.(?) p.(Pro512Leu) g.109368063C>T Copied from the Exome Variant Server RANBP2_000098 1/6666 1/4414 0/2252 - - - - - - -
?/? c.1536G>A r.(=) p.(=) g.109368064G>A Copied from the Exome Variant Server RANBP2_000099 9/6658 0/4412 9/2246 - - - - - - -
?/? c.1632-27A>G r.(=) p.(=) g.109368300A>G Copied from the Exome Variant Server RANBP2_000100 1/8410 1/5408 0/3002 - - - - - - -
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