Unique variants in gene HELLS

Information The variants shown are described using the NM_018063.3 transcript reference sequence.

130 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-59G>T r.(=) p.(=) g.96305620G>T Copied from the Exome Variant Server HELLS_000001 1/4566 0/3182 1/1384
1 c.-56C>T r.(=) p.(=) g.96305623C>T Copied from the Exome Variant Server HELLS_000002 12/4566 11/3182 1/1384
1 c.-15G>T r.(=) p.(=) g.96305664G>T Copied from the Exome Variant Server HELLS_000003 1/12354 0/8208 1/4146
1 c.2T>C r.? p.? g.96305680T>C Copied from the Exome Variant Server HELLS_000004 66/12474 2/8258 64/4216
1 c.31+20T>C r.(=) p.(=) g.96305729T>C Copied from the Exome Variant Server HELLS_000005 5605/12436 3441/8226 2164/4210
1 c.32-43A>G r.(=) p.(=) g.96306091A>G Copied from the Exome Variant Server HELLS_000006 1/13006 1/8600 0/4406
1 c.32-34del r.(=) p.(=) g.96306100del Copied from the Exome Variant Server HELLS_000008 10/12518 8/8254 2/4264
1 c.32-25A>G r.(=) p.(=) g.96306109A>G Copied from the Exome Variant Server HELLS_000010 2/13006 1/8600 1/4406
1 c.49A>G r.(?) p.(Met17Val) g.96306151A>G Copied from the Exome Variant Server HELLS_000012 1/13006 0/8600 1/4406
1 c.81C>T r.(=) p.(=) g.96306183C>T Copied from the Exome Variant Server HELLS_000015 1/13006 0/8600 1/4406
1 c.136C>T r.(?) p.(Arg46Trp) g.96306238C>T Copied from the Exome Variant Server HELLS_000017 1/13006 1/8600 0/4406
1 c.153+21G>C r.(=) p.(=) g.96306276G>C Copied from the Exome Variant Server HELLS_000018 1/13006 1/8600 0/4406
1 c.153+27G>A r.(=) p.(=) g.96306282G>A Copied from the Exome Variant Server HELLS_000021 1/13006 0/8600 1/4406
1 c.154-40_154-38del r.(=) p.(=) g.96313843_96313845del Copied from the Exome Variant Server HELLS_000007 24/12518 6/8254 18/4264
1 c.157C>T r.(?) p.(Arg53Cys) g.96313886C>T Copied from the Exome Variant Server HELLS_000009 3/13006 2/8600 1/4406
1 c.179C>T r.(?) p.(Ser60Leu) g.96313908C>T Copied from the Exome Variant Server HELLS_000011 1/13006 1/8600 0/4406
1 c.197G>A r.(?) p.(Arg66His) g.96313926G>A Copied from the Exome Variant Server HELLS_000013 1/13006 0/8600 1/4406
1 c.231A>C r.(=) p.(=) g.96313960A>C Copied from the Exome Variant Server HELLS_000014 5914/13006 3807/8600 2107/4406
1 c.270A>G r.(=) p.(=) g.96313999A>G Copied from the Exome Variant Server HELLS_000016 330/13000 6/8598 324/4402
1 c.277-57_277-56del r.(=) p.(=) g.96317839_96317840del Copied from the Exome Variant Server HELLS_000019 42/12356 31/8184 11/4172
1 c.277-56del r.(=) p.(=) g.96317840del Copied from the Exome Variant Server HELLS_000022 655/12356 404/8184 251/4172
1 c.277-56dup r.(=) p.(=) g.96317840dup Copied from the Exome Variant Server HELLS_000020 448/12356 402/8184 46/4172
1 c.277-20A>G r.(=) p.(=) g.96317876A>G Copied from the Exome Variant Server HELLS_000023 1/12962 1/8572 0/4390
1 c.317C>T r.(?) p.(Ser106Phe) g.96317936C>T Copied from the Exome Variant Server HELLS_000024 1/12980 1/8588 0/4392
1 c.333+10C>G r.(=) p.(=) g.96317962C>G Copied from the Exome Variant Server HELLS_000025 4/12976 4/8582 0/4394
1 c.333+13G>A r.(=) p.(=) g.96317965G>A Copied from the Exome Variant Server HELLS_000026 1/12980 1/8582 0/4398
1 c.333+15C>T r.(=) p.(=) g.96317967C>T Copied from the Exome Variant Server HELLS_000027 1/12980 1/8582 0/4398
1 c.333+20T>C r.(=) p.(=) g.96317972T>C Copied from the Exome Variant Server HELLS_000028 1/12980 1/8582 0/4398
1 c.333+22T>C r.(=) p.(=) g.96317974T>C Copied from the Exome Variant Server HELLS_000029 1/12972 0/8580 1/4392
1 c.333+61_333+63del r.(=) p.(=) g.96318013_96318015del Copied from the Exome Variant Server HELLS_000030 1/12324 1/8144 0/4180
1 c.334-44G>A r.(=) p.(=) g.96322404G>A Copied from the Exome Variant Server HELLS_000031 6181/12960 3795/8560 2386/4400
1 c.334G>A r.(?) p.(Gly112Ser) g.96322448G>A Copied from the Exome Variant Server HELLS_000032 20/12984 18/8578 2/4406
1 c.343T>C r.(?) p.(Ser115Pro) g.96322457T>C Copied from the Exome Variant Server HELLS_000033 1/12986 0/8580 1/4406
1 c.346A>G r.(?) p.(Ile116Val) g.96322460A>G Copied from the Exome Variant Server HELLS_000034 1/12990 0/8584 1/4406
1 c.370+34C>T r.(=) p.(=) g.96322518C>T Copied from the Exome Variant Server HELLS_000035 1/12980 0/8578 1/4402
1 c.371-4A>G r.spl? p.? g.96322565A>G Copied from the Exome Variant Server HELLS_000036 1/12856 0/8524 1/4332
1 c.435+48T>C r.(=) p.(=) g.96322681T>C Copied from the Exome Variant Server HELLS_000037 1/12934 0/8542 1/4392
1 c.436-29A>G r.(=) p.(=) g.96331116A>G Copied from the Exome Variant Server HELLS_000038 2/12568 2/8428 0/4140
1 c.454del r.(?) p.(Asn154Ilefs*29) g.96331163del Copied from the Exome Variant Server HELLS_000039 48/12344 22/8172 26/4172
1 c.477+16T>C r.(=) p.(=) g.96331202T>C Copied from the Exome Variant Server HELLS_000040 1/12880 0/8546 1/4334
1 c.477+38A>G r.(=) p.(=) g.96331224A>G Copied from the Exome Variant Server HELLS_000041 175/12878 3/8550 172/4328
1 c.478-42C>T r.(=) p.(=) g.96333675C>T Copied from the Exome Variant Server HELLS_000042 2/12938 0/8572 2/4366
1 c.478-34A>G r.(=) p.(=) g.96333683A>G Copied from the Exome Variant Server HELLS_000043 4/12968 4/8580 0/4388
1 c.478-11T>G r.(=) p.(=) g.96333706T>G Copied from the Exome Variant Server HELLS_000044 2/12996 2/8594 0/4402
1 c.501T>C r.(=) p.(=) g.96333740T>C Copied from the Exome Variant Server HELLS_000045 1/13006 1/8600 0/4406
1 c.569C>T r.(?) p.(Thr190Met) g.96333808C>T Copied from the Exome Variant Server HELLS_000046 1/13006 0/8600 1/4406
1 c.625C>G r.(?) p.(Pro209Ala) g.96333864C>G Copied from the Exome Variant Server HELLS_000047 1/13006 0/8600 1/4406
1 c.705+23A>G r.(=) p.(=) g.96333967A>G Copied from the Exome Variant Server HELLS_000048 6/13006 0/8600 6/4406
1 c.705+31C>T r.(=) p.(=) g.96333975C>T Copied from the Exome Variant Server HELLS_000049 36/13006 28/8600 8/4406
1 c.705+45A>T r.(=) p.(=) g.96333989A>T Copied from the Exome Variant Server HELLS_000050 7/13006 7/8600 0/4406
1 c.706-49G>A r.(=) p.(=) g.96334262G>A Copied from the Exome Variant Server HELLS_000051 1/13004 1/8598 0/4406
1 c.706-18A>G r.(=) p.(=) g.96334293A>G Copied from the Exome Variant Server HELLS_000052 1/13006 1/8600 0/4406
1 c.888+11C>T r.(=) p.(=) g.96334504C>T Copied from the Exome Variant Server HELLS_000053 1/13006 1/8600 0/4406
1 c.889-45C>T r.(=) p.(=) g.96336374C>T Copied from the Exome Variant Server HELLS_000054 1/12852 1/8556 0/4296
1 c.889-38_889-36del r.(=) p.(=) g.96336381_96336383del Copied from the Exome Variant Server HELLS_000055 5/12414 4/8232 1/4182
1 c.889-16A>G r.(=) p.(=) g.96336403A>G Copied from the Exome Variant Server HELLS_000056 1/12990 1/8598 0/4392
1 c.913A>G r.(?) p.(Thr305Ala) g.96336443A>G Copied from the Exome Variant Server HELLS_000057 3/13006 3/8600 0/4406
1 c.992C>T r.(?) p.(Thr331Met) g.96336522C>T Copied from the Exome Variant Server HELLS_000059 2/13006 1/8600 1/4406
1 c.993G>A r.(=) p.(=) g.96336523G>A Copied from the Exome Variant Server HELLS_000061 70/13006 64/8600 6/4406
1 c.1026G>A r.(=) p.(=) g.96336556G>A Copied from the Exome Variant Server HELLS_000063 1/13006 0/8600 1/4406
1 c.1032+10A>T r.(=) p.(=) g.96336572A>T Copied from the Exome Variant Server HELLS_000065 48/13006 1/8600 47/4406
1 c.1032+17T>C r.(=) p.(=) g.96336579T>C Copied from the Exome Variant Server HELLS_000066 2/13006 1/8600 1/4406
1 c.1033-9G>A r.(=) p.(=) g.96341074G>A Copied from the Exome Variant Server HELLS_000068 1/13006 1/8600 0/4406
1 c.1040A>G r.(?) p.(Tyr347Cys) g.96341090A>G Copied from the Exome Variant Server HELLS_000058 1/13006 1/8600 0/4406
1 c.1059A>T r.(=) p.(=) g.96341109A>T Copied from the Exome Variant Server HELLS_000060 1/13006 1/8600 0/4406
1 c.1082A>G r.(?) p.(Asn361Ser) g.96341132A>G Copied from the Exome Variant Server HELLS_000062 1/13006 0/8600 1/4406
1 c.1092C>T r.(=) p.(=) g.96341142C>T Copied from the Exome Variant Server HELLS_000064 1/13006 0/8600 1/4406
1 c.1229+33C>A r.(=) p.(=) g.96341312C>A Copied from the Exome Variant Server HELLS_000067 2/13004 2/8600 0/4404
1 c.1229+49_1229+50insA r.(=) p.(=) g.96341328_96341329insA Copied from the Exome Variant Server HELLS_000069 322/12506 7/8248 315/4258
1 c.1257T>G r.(?) p.(Ser419Arg) g.96342747T>G Copied from the Exome Variant Server HELLS_000070 1/13006 0/8600 1/4406
1 c.1258C>G r.(?) p.(Leu420Val) g.96342748C>G Copied from the Exome Variant Server HELLS_000071 9/13006 8/8600 1/4406
1 c.1326+8A>G r.(=) p.(=) g.96342824A>G Copied from the Exome Variant Server HELLS_000072 1/13004 1/8598 0/4406
1 c.1326+23G>A r.(=) p.(=) g.96342839G>A Copied from the Exome Variant Server HELLS_000073 2/13004 1/8598 1/4406
1 c.1326+41T>C r.(=) p.(=) g.96342857T>C Copied from the Exome Variant Server HELLS_000074 1/13004 1/8598 0/4406
1 c.1327-29A>G r.(=) p.(=) g.96347957A>G Copied from the Exome Variant Server HELLS_000075 1/12996 1/8598 0/4398
1 c.1411C>T r.(?) p.(Pro471Ser) g.96348070C>T Copied from the Exome Variant Server HELLS_000076 1/13006 1/8600 0/4406
1 c.1412C>T r.(?) p.(Pro471Leu) g.96348071C>T Copied from the Exome Variant Server HELLS_000077 1/13006 0/8600 1/4406
1 c.1476T>C r.(=) p.(=) g.96348135T>C Copied from the Exome Variant Server HELLS_000078 1/13006 0/8600 1/4406
1 c.1488+6G>A r.(=) p.(=) g.96348153G>A Copied from the Exome Variant Server HELLS_000079 3/13006 0/8600 3/4406
1 c.1488+14G>A r.(=) p.(=) g.96348161G>A Copied from the Exome Variant Server HELLS_000080 44/13006 0/8600 44/4406
1 c.1488+41T>C r.(=) p.(=) g.96348188T>C Copied from the Exome Variant Server HELLS_000081 7/13004 6/8600 1/4404
1 c.1488+43T>C r.(=) p.(=) g.96348190T>C Copied from the Exome Variant Server HELLS_000082 1/13004 0/8600 1/4404
1 c.1489-51C>A r.(=) p.(=) g.96350119C>A Copied from the Exome Variant Server HELLS_000083 1/12982 1/8582 0/4400
1 c.1489-37T>G r.(=) p.(=) g.96350133T>G Copied from the Exome Variant Server HELLS_000084 1/12992 0/8592 1/4400
1 c.1489-3T>C r.spl? p.? g.96350167T>C Copied from the Exome Variant Server HELLS_000085 1/13002 1/8600 0/4402
1 c.1520G>A r.(?) p.(Arg507Gln) g.96350201G>A Copied from the Exome Variant Server HELLS_000086 1/13006 1/8600 0/4406
1 c.1532G>A r.(?) p.(Arg511Gln) g.96350213G>A Copied from the Exome Variant Server HELLS_000087 1/13006 1/8600 0/4406
1 c.1537A>G r.(?) p.(Arg513Gly) g.96350218A>G Copied from the Exome Variant Server HELLS_000088 3/13006 3/8600 0/4406
1 c.1629-33C>A r.(=) p.(=) g.96350362C>A Copied from the Exome Variant Server HELLS_000089 1/13004 1/8598 0/4406
1 c.1629-32A>G r.(=) p.(=) g.96350363A>G Copied from the Exome Variant Server HELLS_000090 1/13004 0/8598 1/4406
1 c.1629-23A>G r.(=) p.(=) g.96350372A>G Copied from the Exome Variant Server HELLS_000091 1/13006 1/8600 0/4406
1 c.1631C>G r.(?) p.(Ala544Gly) g.96350397C>G Copied from the Exome Variant Server HELLS_000092 1/13006 1/8600 0/4406
1 c.1703G>A r.(?) p.(Arg568His) g.96350469G>A Copied from the Exome Variant Server HELLS_000093 2/13006 2/8600 0/4406
1 c.1749T>C r.(=) p.(=) g.96350515T>C Copied from the Exome Variant Server HELLS_000094 2/13000 2/8594 0/4406
1 c.1765A>C r.(?) p.(Lys589Gln) g.96350531A>C Copied from the Exome Variant Server HELLS_000095 2/12994 0/8588 2/4406
1 c.1767+5A>G r.spl? p.? g.96350538A>G Copied from the Exome Variant Server HELLS_000096 1/12992 0/8586 1/4406
1 c.1767+51A>G r.(=) p.(=) g.96350584A>G Copied from the Exome Variant Server HELLS_000097 1/12958 1/8558 0/4400
1 c.1768-4T>G r.spl? p.? g.96351982T>G Copied from the Exome Variant Server HELLS_000098 5/13002 0/8598 5/4404
1 c.1804T>C r.(=) p.(=) g.96352022T>C Copied from the Exome Variant Server HELLS_000099 1/13004 0/8600 1/4404
1 c.1894A>G r.(?) p.(Met632Val) g.96352194A>G Copied from the Exome Variant Server HELLS_000100 1/13006 1/8600 0/4406
Legend   « First ‹ Prev     1 2     Next › Last »