Full data view for gene SOX30

Information The variants shown are described using the NM_007017.2 transcript reference sequence.

97 entries on 1 page. Showing entries 1 - 97.
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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.143G>A r.(?) p.(Ser48Asn) g.157078944C>T Copied from the Exome Variant Server SOX30_000097 26/12508 0/8350 26/4158 - - - - - - -
?/? c.162G>A r.(=) p.(=) g.157078925C>T Copied from the Exome Variant Server SOX30_000096 5/12562 0/8354 5/4208 - - - - - - -
?/? c.163T>C r.(?) p.(Cys55Arg) g.157078924A>G Copied from the Exome Variant Server SOX30_000095 68/12562 61/8352 7/4210 - - - - - - -
?/? c.182C>G r.(?) p.(Ser61Cys) g.157078905G>C Copied from the Exome Variant Server SOX30_000094 8/12492 0/8304 8/4188 - - - - - - -
?/? c.198G>A r.(=) p.(=) g.157078889C>T Copied from the Exome Variant Server SOX30_000093 24/12260 1/8174 23/4086 - - - - - - -
?/? c.219G>A r.(=) p.(=) g.157078868C>T Copied from the Exome Variant Server SOX30_000092 26/12586 0/8372 26/4214 - - - - - - -
?/? c.230A>T r.(?) p.(Gln77Leu) g.157078857T>A Copied from the Exome Variant Server SOX30_000091 2/12684 0/8422 2/4262 - - - - - - -
?/? c.279C>T r.(=) p.(=) g.157078808G>A Copied from the Exome Variant Server SOX30_000090 5/12498 5/8324 0/4174 - - - - - - -
?/? c.323G>T r.(?) p.(Arg108Leu) g.157078764C>A Copied from the Exome Variant Server SOX30_000089 1/11382 0/7612 1/3770 - - - - - - -
?/? c.339G>C r.(=) p.(=) g.157078748C>G Copied from the Exome Variant Server SOX30_000087 106/11320 1/7592 105/3728 - - - - - - -
?/? c.400C>T r.(?) p.(His134Tyr) g.157078687G>A Copied from the Exome Variant Server SOX30_000085 6/12730 0/8416 6/4314 - - - - - - -
?/? c.440A>T r.(?) p.(Asp147Val) g.157078647T>A Copied from the Exome Variant Server SOX30_000083 1/12876 1/8520 0/4356 - - - - - - -
?/? c.443A>G r.(?) p.(Gln148Arg) g.157078644T>C Copied from the Exome Variant Server SOX30_000081 1/12870 0/8512 1/4358 - - - - - - -
?/? c.455C>T r.(?) p.(Pro152Leu) g.157078632G>A Copied from the Exome Variant Server SOX30_000079 29/12846 28/8490 1/4356 - - - - - - -
?/? c.511C>T r.(?) p.(Pro171Ser) g.157078576G>A Copied from the Exome Variant Server SOX30_000077 1/12850 1/8498 0/4352 - - - - - - -
?/? c.555G>C r.(?) p.(Lys185Asn) g.157078532C>G Copied from the Exome Variant Server SOX30_000075 1/13002 0/8598 1/4404 - - - - - - -
?/? c.567G>A r.(=) p.(=) g.157078520C>T Copied from the Exome Variant Server SOX30_000088 1/12998 1/8596 0/4402 - - - - - - -
?/? c.594C>G r.(=) p.(=) g.157078493G>C Copied from the Exome Variant Server SOX30_000086 1/12972 1/8578 0/4394 - - - - - - -
?/? c.608G>A r.(?) p.(Ser203Asn) g.157078479C>T Copied from the Exome Variant Server SOX30_000084 6/12990 0/8588 6/4402 - - - - - - -
?/? c.612G>C r.(=) p.(=) g.157078475C>G Copied from the Exome Variant Server SOX30_000082 2207/12996 1095/8594 1112/4402 - - - - - - -
?/? c.621C>T r.(=) p.(=) g.157078466G>A Copied from the Exome Variant Server SOX30_000080 9/13000 0/8596 9/4404 - - - - - - -
?/? c.646G>A r.(?) p.(Glu216Lys) g.157078441C>T Copied from the Exome Variant Server SOX30_000078 96/12998 1/8594 95/4404 - - - - - - -
?/? c.678C>T r.(=) p.(=) g.157078409G>A Copied from the Exome Variant Server SOX30_000076 6/13004 0/8598 6/4406 - - - - - - -
?/? c.685G>A r.(?) p.(Glu229Lys) g.157078402C>T Copied from the Exome Variant Server SOX30_000074 189/13006 174/8600 15/4406 - - - - - - -
?/? c.702C>T r.(=) p.(=) g.157078385G>A Copied from the Exome Variant Server SOX30_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.708T>C r.(=) p.(=) g.157078379A>G Copied from the Exome Variant Server SOX30_000072 2/13006 0/8600 2/4406 - - - - - - -
?/? c.713G>A r.(?) p.(Gly238Asp) g.157078374C>T Copied from the Exome Variant Server SOX30_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.756G>T r.(=) p.(=) g.157078331C>A Copied from the Exome Variant Server SOX30_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.794A>C r.(?) p.(His265Pro) g.157078293T>G Copied from the Exome Variant Server SOX30_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.797C>G r.(?) p.(Thr266Arg) g.157078290G>C Copied from the Exome Variant Server SOX30_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.805C>T r.(?) p.(Pro269Ser) g.157078282G>A Copied from the Exome Variant Server SOX30_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.815G>A r.(?) p.(Arg272Gln) g.157078272C>T Copied from the Exome Variant Server SOX30_000066 2/13006 0/8600 2/4406 - - - - - - -
?/? c.822G>T r.(?) p.(Gln274His) g.157078265C>A Copied from the Exome Variant Server SOX30_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.825T>G r.(?) p.(Phe275Leu) g.157078262A>C Copied from the Exome Variant Server SOX30_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.830G>A r.(?) p.(Gly277Glu) g.157078257C>T Copied from the Exome Variant Server SOX30_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.855A>C r.(?) p.(Arg285Ser) g.157078232T>G Copied from the Exome Variant Server SOX30_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.887C>T r.(?) p.(Thr296Ile) g.157078200G>A Copied from the Exome Variant Server SOX30_000061 2/13006 1/8600 1/4406 - - - - - - -
?/? c.899C>T r.(?) p.(Ser300Phe) g.157078188G>A Copied from the Exome Variant Server SOX30_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.937G>A r.(?) p.(Val313Ile) g.157078150C>T Copied from the Exome Variant Server SOX30_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.941C>T r.(?) p.(Pro314Leu) g.157078146G>A Copied from the Exome Variant Server SOX30_000058 2/13006 2/8600 0/4406 - - - - - - -
?/? c.942G>A r.(=) p.(=) g.157078145C>T Copied from the Exome Variant Server SOX30_000057 2/13006 0/8600 2/4406 - - - - - - -
?/? c.967+11G>A r.(=) p.(=) g.157078109C>T Copied from the Exome Variant Server SOX30_000056 1/12992 0/8598 1/4394 - - - - - - -
?/? c.967+19G>A r.(=) p.(=) g.157078101C>T Copied from the Exome Variant Server SOX30_000055 1/12976 1/8592 0/4384 - - - - - - -
?/? c.967+22G>T r.(=) p.(=) g.157078098C>A Copied from the Exome Variant Server SOX30_000054 1/12948 1/8590 0/4358 - - - - - - -
?/? c.967+28del r.(=) p.(=) g.157078092del Copied from the Exome Variant Server SOX30_000053 4/12422 2/8230 2/4192 - - - - - - -
?/? c.967+37C>T r.(=) p.(=) g.157078083G>A Copied from the Exome Variant Server SOX30_000052 2/12910 0/8572 2/4338 - - - - - - -
?/? c.968-34A>T r.(=) p.(=) g.157075938T>A Copied from the Exome Variant Server SOX30_000051 18/13006 17/8600 1/4406 - - - - - - -
?/? c.968-26T>G r.(=) p.(=) g.157075930A>C Copied from the Exome Variant Server SOX30_000050 43/13006 0/8600 43/4406 - - - - - - -
?/? c.968-17del r.(=) p.(=) g.157075921del Copied from the Exome Variant Server SOX30_000049 3/12518 1/8254 2/4264 - - - - - - -
?/? c.982C>T r.(?) p.(Pro328Ser) g.157075890G>A Copied from the Exome Variant Server SOX30_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1026C>T r.(=) p.(=) g.157075846G>A Copied from the Exome Variant Server SOX30_000047 21/13006 21/8600 0/4406 - - - - - - -
?/? c.1044A>G r.(=) p.(=) g.157075828T>C Copied from the Exome Variant Server SOX30_000046 48/13006 1/8600 47/4406 - - - - - - -
?/? c.1088A>G r.(?) p.(Asn363Ser) g.157075784T>C Copied from the Exome Variant Server SOX30_000045 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1136G>C r.(?) p.(Ser379Thr) g.157075736C>G Copied from the Exome Variant Server SOX30_000044 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1200A>G r.(=) p.(=) g.157075672T>C Copied from the Exome Variant Server SOX30_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1207+26_1207+29del r.(=) p.(=) g.157075636_157075639del Copied from the Exome Variant Server SOX30_000042 3/12518 3/8254 0/4264 - - - - - - -
?/? c.1207+47T>G r.(=) p.(=) g.157075618A>C Copied from the Exome Variant Server SOX30_000041 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1208-29C>T r.(=) p.(=) g.157073853G>A Copied from the Exome Variant Server SOX30_000040 3/13004 2/8600 1/4404 - - - - - - -
?/? c.1253T>C r.(?) p.(Leu418Pro) g.157073779A>G Copied from the Exome Variant Server SOX30_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1265A>G r.(?) p.(Asn422Ser) g.157073767T>C Copied from the Exome Variant Server SOX30_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1285C>A r.(?) p.(Gln429Lys) g.157073747G>T Copied from the Exome Variant Server SOX30_000037 290/13006 234/8600 56/4406 - - - - - - -
?/? c.1336A>G r.(?) p.(Thr446Ala) g.157073696T>C Copied from the Exome Variant Server SOX30_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1387+7961C>T r.(=) p.(=) g.157065684G>A Copied from the Exome Variant Server SOX30_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1387+7992G>A r.(=) p.(=) g.157065653C>T Copied from the Exome Variant Server SOX30_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1387+7999G>T r.(=) p.(=) g.157065646C>A Copied from the Exome Variant Server SOX30_000029 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1387+8010G>A r.(=) p.(=) g.157065635C>T Copied from the Exome Variant Server SOX30_000027 34/13006 32/8600 2/4406 - - - - - - -
?/? c.1387+8039C>G r.(=) p.(=) g.157065606G>C Copied from the Exome Variant Server SOX30_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1387+8062G>A r.(=) p.(=) g.157065583C>T Copied from the Exome Variant Server SOX30_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1387+8077C>T r.(=) p.(=) g.157065568G>A Copied from the Exome Variant Server SOX30_000032 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1387+8146T>C r.(=) p.(=) g.157065499A>G Copied from the Exome Variant Server SOX30_000030 60/13006 0/8600 60/4406 - - - - - - -
?/? c.1387+8153C>T r.(=) p.(=) g.157065492G>A Copied from the Exome Variant Server SOX30_000028 5/13006 4/8600 1/4406 - - - - - - -
?/? c.1387+8202A>G r.(=) p.(=) g.157065443T>C Copied from the Exome Variant Server SOX30_000026 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1387+8206C>T r.(=) p.(=) g.157065439G>A Copied from the Exome Variant Server SOX30_000025 85/13006 0/8600 85/4406 - - - - - - -
?/? c.1387+8215A>C r.(=) p.(=) g.157065430T>G Copied from the Exome Variant Server SOX30_000024 236/13006 0/8600 236/4406 - - - - - - -
?/? c.1387+8217C>G r.(=) p.(=) g.157065428G>C Copied from the Exome Variant Server SOX30_000023 8/13006 8/8600 0/4406 - - - - - - -
?/? c.1387+8237C>T r.(=) p.(=) g.157065408G>A Copied from the Exome Variant Server SOX30_000022 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1387+8250C>T r.(=) p.(=) g.157065395G>A Copied from the Exome Variant Server SOX30_000021 7/13006 0/8600 7/4406 - - - - - - -
?/? c.1387+8253A>G r.(=) p.(=) g.157065392T>C Copied from the Exome Variant Server SOX30_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1387+8330C>G r.(=) p.(=) g.157065315G>C Copied from the Exome Variant Server SOX30_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1387+8339C>T r.(=) p.(=) g.157065306G>A Copied from the Exome Variant Server SOX30_000018 1351/13006 1236/8600 115/4406 - - - - - - -
?/? c.1387+8352A>G r.(=) p.(=) g.157065293T>C Copied from the Exome Variant Server SOX30_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1387+8399C>T r.(=) p.(=) g.157065246G>A Copied from the Exome Variant Server SOX30_000016 13/13006 12/8600 1/4406 - - - - - - -
?/? c.1387+8437A>G r.(=) p.(=) g.157065208T>C Copied from the Exome Variant Server SOX30_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1420A>G r.(?) p.(Met474Val) g.157053697T>C Copied from the Exome Variant Server SOX30_000014 1/13004 1/8598 0/4406 - - - - - - -
?/? c.*1A>G r.(=) p.(=) g.157053610T>C Copied from the Exome Variant Server SOX30_000013 27/13006 25/8600 2/4406 - - - - - - -
?/? c.*6G>A r.(=) p.(=) g.157053605C>T Copied from the Exome Variant Server SOX30_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*42C>T r.(=) p.(=) g.157053569G>A Copied from the Exome Variant Server SOX30_000011 2/13006 2/8600 0/4406 - - - - - - -
?/? c.*46G>A r.(=) p.(=) g.157053565C>T Copied from the Exome Variant Server SOX30_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*85C>T r.(=) p.(=) g.157053526G>A Copied from the Exome Variant Server SOX30_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*90T>C r.(=) p.(=) g.157053521A>G Copied from the Exome Variant Server SOX30_000008 106/13006 1/8600 105/4406 - - - - - - -
?/? c.*194T>C r.(=) p.(=) g.157053417A>G Copied from the Exome Variant Server SOX30_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*211A>G r.(=) p.(=) g.157053400T>C Copied from the Exome Variant Server SOX30_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*218C>T r.(=) p.(=) g.157053393G>A Copied from the Exome Variant Server SOX30_000005 4/13006 0/8600 4/4406 - - - - - - -
?/? c.*219G>A r.(=) p.(=) g.157053392C>T Copied from the Exome Variant Server SOX30_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*246G>A r.(=) p.(=) g.157053365C>T Copied from the Exome Variant Server SOX30_000003 17/13006 0/8600 17/4406 - - - - - - -
?/? c.*275A>G r.(=) p.(=) g.157053336T>C Copied from the Exome Variant Server SOX30_000002 9/12860 0/8556 9/4304 - - - - - - -
?/? c.*306A>C r.(=) p.(=) g.157053305T>G Copied from the Exome Variant Server SOX30_000001 7/12162 7/8282 0/3880 - - - - - - -
Legend