Full data view for gene KDM5C

Information The variants shown are described using the NM_004187.3 transcript reference sequence.

148 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.15C>T r.(=) p.(=) g.53254057G>A Copied from the Exome Variant Server KDM5C_000148 1/10560 0/6728 1/3832 - - - - - - -
?/? c.66C>G r.(=) p.(=) g.53254006G>C Copied from the Exome Variant Server KDM5C_000147 1/10563 1/6728 0/3835 - - - - - - -
?/? c.108C>T r.(=) p.(=) g.53253964G>A Copied from the Exome Variant Server KDM5C_000146 10/10563 0/6728 10/3835 - - - - - - -
?/? c.151-45T>C r.(=) p.(=) g.53250143A>G Copied from the Exome Variant Server KDM5C_000145 1/10563 1/6728 0/3835 - - - - - - -
?/? c.151-44A>G r.(=) p.(=) g.53250142T>C Copied from the Exome Variant Server KDM5C_000144 1/10563 0/6728 1/3835 - - - - - - -
?/? c.151-12C>G r.(=) p.(=) g.53250110G>C Copied from the Exome Variant Server KDM5C_000143 1/10563 0/6728 1/3835 - - - - - - -
?/? c.197C>T r.(?) p.(Thr66Ile) g.53250052G>A Copied from the Exome Variant Server KDM5C_000142 2/10563 0/6728 2/3835 - - - - - - -
?/? c.237G>A r.(=) p.(=) g.53247572C>T Copied from the Exome Variant Server KDM5C_000141 1/10563 1/6728 0/3835 - - - - - - -
?/? c.322C>T r.(?) p.(Arg108Trp) g.53247487G>A Copied from the Exome Variant Server KDM5C_000140 1/10563 1/6728 0/3835 - - - - - - -
?/? c.351+36A>T r.(=) p.(=) g.53247422T>A Copied from the Exome Variant Server KDM5C_000139 1/10563 1/6728 0/3835 - - - - - - -
?/? c.351+45_351+46insCAAT r.(=) p.(=) g.53247412_53247413insATTG Copied from the Exome Variant Server KDM5C_000138 1/10205 0/6484 1/3721 - - - - - - -
?/? c.352-43A>G r.(=) p.(=) g.53247191T>C Copied from the Exome Variant Server KDM5C_000137 1/10563 1/6728 0/3835 - - - - - - -
?/? c.352-38C>T r.(=) p.(=) g.53247186G>A Copied from the Exome Variant Server KDM5C_000136 373/10563 5/6728 368/3835 - - - - - - -
?/? c.408G>C r.(=) p.(=) g.53247092C>G Copied from the Exome Variant Server KDM5C_000135 10/10563 0/6728 10/3835 - - - - - - -
?/? c.425A>G r.(?) p.(Asn142Ser) g.53247075T>C Copied from the Exome Variant Server KDM5C_000134 1/10563 0/6728 1/3835 - - - - - - -
?/? c.465C>T r.(=) p.(=) g.53247035G>A Copied from the Exome Variant Server KDM5C_000133 10/10563 0/6728 10/3835 - - - - - - -
?/? c.522+7A>T r.(=) p.(=) g.53246971T>A Copied from the Exome Variant Server KDM5C_000132 1/10563 0/6728 1/3835 - - - - - - -
?/? c.522+19G>A r.(=) p.(=) g.53246959C>T Copied from the Exome Variant Server KDM5C_000131 403/10563 379/6728 24/3835 - - - - - - -
?/? c.522+23G>A r.(=) p.(=) g.53246955C>T Copied from the Exome Variant Server KDM5C_000130 1/10563 0/6728 1/3835 - - - - - - -
?/? c.522+31C>T r.(=) p.(=) g.53246947G>A Copied from the Exome Variant Server KDM5C_000129 12/10563 12/6728 0/3835 - - - - - - -
?/? c.523-45G>A r.(=) p.(=) g.53246504C>T Copied from the Exome Variant Server KDM5C_000128 4/10563 1/6728 3/3835 - - - - - - -
?/? c.523-3C>T r.spl? p.? g.53246462G>A Copied from the Exome Variant Server KDM5C_000127 3/10563 0/6728 3/3835 - - - - - - -
?/? c.536G>A r.(?) p.(Arg179His) g.53246446C>T Copied from the Exome Variant Server KDM5C_000126 3/10563 3/6728 0/3835 - - - - - - -
?/? c.564G>A r.(=) p.(=) g.53246418C>T Copied from the Exome Variant Server KDM5C_000125 113/10563 104/6728 9/3835 - - - - - - -
?/? c.594A>G r.(=) p.(=) g.53246388T>C Copied from the Exome Variant Server KDM5C_000124 1/10563 1/6728 0/3835 - - - - - - -
?/? c.657+27G>C r.(=) p.(=) g.53246298C>G Copied from the Exome Variant Server KDM5C_000123 2/10563 2/6728 0/3835 - - - - - - -
?/? c.657+40G>A r.(=) p.(=) g.53246285C>T Copied from the Exome Variant Server KDM5C_000122 5/10560 0/6726 5/3834 - - - - - - -
?/? c.715T>A r.(?) p.(Tyr239Asn) g.53245322A>T Copied from the Exome Variant Server KDM5C_000121 1/10563 1/6728 0/3835 - - - - - - -
?/? c.771G>A r.(=) p.(=) g.53245266C>T Copied from the Exome Variant Server KDM5C_000120 1/10563 0/6728 1/3835 - - - - - - -
?/? c.782-33A>G r.(=) p.(=) g.53245191T>C Copied from the Exome Variant Server KDM5C_000119 1/10563 1/6728 0/3835 - - - - - - -
?/? c.782-32C>A r.(=) p.(=) g.53245190G>T Copied from the Exome Variant Server KDM5C_000118 1/10563 0/6728 1/3835 - - - - - - -
?/? c.893T>A r.(?) p.(Leu298Gln) g.53245047A>T Copied from the Exome Variant Server KDM5C_000117 1/10563 1/6728 0/3835 - - - - - - -
?/? c.963+13C>G r.(=) p.(=) g.53244964G>C Copied from the Exome Variant Server KDM5C_000116 1/10563 0/6728 1/3835 - - - - - - -
?/? c.963+36T>G r.(=) p.(=) g.53244941A>C Copied from the Exome Variant Server KDM5C_000115 1/10563 1/6728 0/3835 - - - - - - -
?/? c.964-365C>T r.(=) p.(=) g.53244394G>A Copied from the Exome Variant Server KDM5C_000114 1/4513 1/3095 0/1418 - - - - - - -
?/? c.970T>A r.(?) p.(Ser324Thr) g.53244023A>T Copied from the Exome Variant Server KDM5C_000113 1/10563 1/6728 0/3835 - - - - - - -
?/? c.982C>T r.(?) p.(Arg328Trp) g.53244011G>A Copied from the Exome Variant Server KDM5C_000112 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1117A>G r.(?) p.(Met373Val) g.53243876T>C Copied from the Exome Variant Server KDM5C_000111 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1236C>T r.(=) p.(=) g.53240975G>A Copied from the Exome Variant Server KDM5C_000110 25/10563 0/6728 25/3835 - - - - - - -
?/? c.1242+10G>A r.(=) p.(=) g.53240959C>T Copied from the Exome Variant Server KDM5C_000109 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1242+48T>C r.(=) p.(=) g.53240921A>G Copied from the Exome Variant Server KDM5C_000108 68/10563 0/6728 68/3835 - - - - - - -
?/? c.1243-14C>G r.(=) p.(=) g.53240851G>C Copied from the Exome Variant Server KDM5C_000107 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1378C>T r.(?) p.(Arg460Trp) g.53240702G>A Copied from the Exome Variant Server KDM5C_000106 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1392C>T r.(=) p.(=) g.53240688G>A Copied from the Exome Variant Server KDM5C_000105 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1401+5G>A r.spl? p.? g.53240674C>T Copied from the Exome Variant Server KDM5C_000104 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1402-27C>T r.(=) p.(=) g.53240066G>A Copied from the Exome Variant Server KDM5C_000103 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1440G>A r.(=) p.(=) g.53240001C>T Copied from the Exome Variant Server KDM5C_000102 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1563C>T r.(=) p.(=) g.53239878G>A Copied from the Exome Variant Server KDM5C_000101 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1583+37G>T r.(=) p.(=) g.53239821C>A Copied from the Exome Variant Server KDM5C_000100 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1584-41A>G r.(=) p.(=) g.53239799T>C Copied from the Exome Variant Server KDM5C_000099 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1584-37G>T r.(=) p.(=) g.53239795C>A Copied from the Exome Variant Server KDM5C_000098 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1608G>C r.(=) p.(=) g.53239734C>G Copied from the Exome Variant Server KDM5C_000097 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1747-9G>A r.(=) p.(=) g.53231164C>T Copied from the Exome Variant Server KDM5C_000096 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1764G>A r.(=) p.(=) g.53231138C>T Copied from the Exome Variant Server KDM5C_000095 32/10563 28/6728 4/3835 - - - - - - -
?/? c.1794C>G r.(=) p.(=) g.53231108G>C Copied from the Exome Variant Server KDM5C_000094 57/10563 0/6728 57/3835 - - - - - - -
?/? c.1836C>T r.(=) p.(=) g.53231066G>A Copied from the Exome Variant Server KDM5C_000093 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1866+35G>A r.(=) p.(=) g.53231001C>T Copied from the Exome Variant Server KDM5C_000092 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1866+36C>T r.(=) p.(=) g.53231000G>A Copied from the Exome Variant Server KDM5C_000091 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1866+43G>T r.(=) p.(=) g.53230993C>A Copied from the Exome Variant Server KDM5C_000090 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1866+48A>G r.(=) p.(=) g.53230988T>C Copied from the Exome Variant Server KDM5C_000089 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1867-38C>A r.(=) p.(=) g.53230964G>T Copied from the Exome Variant Server KDM5C_000088 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1884G>A r.(=) p.(=) g.53230909C>T Copied from the Exome Variant Server KDM5C_000087 120/10563 1/6728 119/3835 - - - - - - -
?/? c.1902C>A r.(=) p.(=) g.53230891G>T Copied from the Exome Variant Server KDM5C_000086 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2041C>A r.(=) p.(=) g.53230752G>T Copied from the Exome Variant Server KDM5C_000085 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2061+29C>T r.(=) p.(=) g.53230703G>A Copied from the Exome Variant Server KDM5C_000084 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2062-40G>T r.(=) p.(=) g.53228380C>A Copied from the Exome Variant Server KDM5C_000083 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2062-39G>T r.(=) p.(=) g.53228379C>A Copied from the Exome Variant Server KDM5C_000082 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2062-29T>C r.(=) p.(=) g.53228369A>G Copied from the Exome Variant Server KDM5C_000081 69/10563 0/6728 69/3835 - - - - - - -
?/? c.2062-22C>T r.(=) p.(=) g.53228362G>A Copied from the Exome Variant Server KDM5C_000080 4/10563 0/6728 4/3835 - - - - - - -
?/? c.2160C>T r.(=) p.(=) g.53228242G>A Copied from the Exome Variant Server KDM5C_000079 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2178C>A r.(?) p.(Asp726Glu) g.53228224G>T Copied from the Exome Variant Server KDM5C_000078 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2243+11G>T r.(=) p.(=) g.53228148C>A Copied from the Exome Variant Server KDM5C_000077 8270/10563 6561/6728 1709/3835 - - - - - - -
?/? c.2243+37A>G r.(=) p.(=) g.53228122T>C Copied from the Exome Variant Server KDM5C_000076 3/10563 1/6728 2/3835 - - - - - - -
?/? c.2280G>A r.(=) p.(=) g.53228034C>T Copied from the Exome Variant Server KDM5C_000075 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2368+10G>C r.(=) p.(=) g.53227936C>G Copied from the Exome Variant Server KDM5C_000074 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2368+21A>G r.(=) p.(=) g.53227925T>C Copied from the Exome Variant Server KDM5C_000073 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2368+23G>A r.(=) p.(=) g.53227923C>T Copied from the Exome Variant Server KDM5C_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2369-42_2369-36del r.(=) p.(=) g.53227855_53227861del Copied from the Exome Variant Server KDM5C_000071 2/10205 1/6484 1/3721 - - - - - - -
?/? c.2369-36A>G r.(=) p.(=) g.53227855T>C Copied from the Exome Variant Server KDM5C_000070 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2405G>A r.(?) p.(Arg802His) g.53227783C>T Copied from the Exome Variant Server KDM5C_000069 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2462A>T r.(?) p.(Glu821Val) g.53227726T>A Copied from the Exome Variant Server KDM5C_000068 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2496G>C r.(=) p.(=) g.53227692C>G Copied from the Exome Variant Server KDM5C_000067 1/10561 1/6726 0/3835 - - - - - - -
?/? c.2516+31T>C r.(=) p.(=) g.53227641A>G Copied from the Exome Variant Server KDM5C_000066 1/10545 1/6715 0/3830 - - - - - - -
?/? c.2517-7_2517-6insACT r.(=) p.(=) g.53227064_53227065insAGT Copied from the Exome Variant Server KDM5C_000065 132/10177 124/6466 8/3711 - - - - - - -
?/? c.2521C>T r.(?) p.(His841Tyr) g.53227054G>A Copied from the Exome Variant Server KDM5C_000064 1/10559 1/6724 0/3835 - - - - - - -
?/? c.2529G>T r.(=) p.(=) g.53227046C>A Copied from the Exome Variant Server KDM5C_000063 5/10559 0/6724 5/3835 - - - - - - -
?/? c.2595C>T r.(=) p.(=) g.53226980G>A Copied from the Exome Variant Server KDM5C_000062 4/10562 3/6727 1/3835 - - - - - - -
?/? c.2622+22A>T r.(=) p.(=) g.53226931T>A Copied from the Exome Variant Server KDM5C_000061 1/10558 0/6724 1/3834 - - - - - - -
?/? c.2622+27G>A r.(=) p.(=) g.53226926C>T Copied from the Exome Variant Server KDM5C_000060 1/10559 1/6726 0/3833 - - - - - - -
?/? c.2623-35C>T r.(=) p.(=) g.53226261G>A Copied from the Exome Variant Server KDM5C_000059 16/10489 2/6677 14/3812 - - - - - - -
?/? c.2663G>T r.(?) p.(Arg888Leu) g.53226186C>A Copied from the Exome Variant Server KDM5C_000058 1/10545 1/6717 0/3828 - - - - - - -
?/? c.2726G>A r.(?) p.(Arg909Gln) g.53226123C>T Copied from the Exome Variant Server KDM5C_000057 5/10542 0/6715 5/3827 - - - - - - -
?/? c.2823A>G r.(=) p.(=) g.53226026T>C Copied from the Exome Variant Server KDM5C_000056 17/10560 16/6725 1/3835 - - - - - - -
?/? c.2872G>A r.(?) p.(Ala958Thr) g.53225977C>T Copied from the Exome Variant Server KDM5C_000055 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2944C>T r.(?) p.(Arg982Cys) g.53225905G>A Copied from the Exome Variant Server KDM5C_000054 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2962C>G r.(?) p.(His988Asp) g.53225887G>C Copied from the Exome Variant Server KDM5C_000053 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2982-24C>T r.(=) p.(=) g.53225260G>A Copied from the Exome Variant Server KDM5C_000052 2/10563 0/6728 2/3835 - - - - - - -
?/? c.3026C>T r.(?) p.(Ala1009Val) g.53225192G>A Copied from the Exome Variant Server KDM5C_000051 1/10563 0/6728 1/3835 - - - - - - -
?/? c.3083A>G r.(?) p.(Lys1028Arg) g.53225135T>C Copied from the Exome Variant Server KDM5C_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.3120+38C>T r.(=) p.(=) g.53225060G>A Copied from the Exome Variant Server KDM5C_000049 11/10562 9/6727 2/3835 - - - - - - -
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