Full data view for gene CYB5B

Information The variants shown are described using the NM_030579.2 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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.-32C>T r.(=) p.(=) g.69458555C>T Copied from the Exome Variant Server CYB5B_000001 3/12318 3/8328 0/3990 - - - - - - -
?/? c.-31G>T r.(=) p.(=) g.69458556G>T Copied from the Exome Variant Server CYB5B_000002 1/12312 0/8328 1/3984 - - - - - - -
?/? c.4T>G r.(?) p.(Ser2Ala) g.69458590T>G Copied from the Exome Variant Server CYB5B_000003 1/12440 1/8396 0/4044 - - - - - - -
?/? c.5C>T r.(?) p.(Ser2Phe) g.69458591C>T Copied from the Exome Variant Server CYB5B_000004 1/12440 0/8396 1/4044 - - - - - - -
?/? c.13A>T r.(?) p.(Met5Leu) g.69458599A>T Copied from the Exome Variant Server CYB5B_000005 2/12458 2/8390 0/4068 - - - - - - -
?/? c.24G>C r.(=) p.(=) g.69458610G>C Copied from the Exome Variant Server CYB5B_000006 2/12468 2/8400 0/4068 - - - - - - -
?/? c.40G>C r.(?) p.(Asp14His) g.69458626G>C Copied from the Exome Variant Server CYB5B_000007 1/12510 1/8404 0/4106 - - - - - - -
?/? c.50G>C r.(?) p.(Gly17Ala) g.69458636G>C Copied from the Exome Variant Server CYB5B_000008 1/12542 0/8414 1/4128 - - - - - - -
?/? c.90G>A r.(=) p.(=) g.69458676G>A Copied from the Exome Variant Server CYB5B_000009 1/12594 0/8430 1/4164 - - - - - - -
?/? c.111C>A r.(=) p.(=) g.69458697C>A Copied from the Exome Variant Server CYB5B_000010 1/12612 1/8438 0/4174 - - - - - - -
?/? c.174+11G>T r.(=) p.(=) g.69458771G>T Copied from the Exome Variant Server CYB5B_000011 1/12402 0/8360 1/4042 - - - - - - -
?/? c.174+19G>A r.(=) p.(=) g.69458779G>A Copied from the Exome Variant Server CYB5B_000012 4441/12402 3590/8354 851/4048 - - - - - - -
?/? c.174+41C>T r.(=) p.(=) g.69458801C>T Copied from the Exome Variant Server CYB5B_000013 1/12362 1/8338 0/4024 - - - - - - -
?/? c.193G>C r.(?) p.(Val65Leu) g.69481071G>C Copied from the Exome Variant Server CYB5B_000014 9/12026 9/8238 0/3788 - - - - - - -
?/? c.302C>T r.(?) p.(Pro101Leu) g.69481180C>T Copied from the Exome Variant Server CYB5B_000015 1/12138 1/8256 0/3882 - - - - - - -
?/? c.303+35A>C r.(=) p.(=) g.69481216A>C Copied from the Exome Variant Server CYB5B_000016 1/12070 0/8238 1/3832 - - - - - - -
?/? c.304-33T>C r.(=) p.(=) g.69481985T>C Copied from the Exome Variant Server CYB5B_000017 2/11906 2/8184 0/3722 - - - - - - -
?/? c.304-13C>T r.(=) p.(=) g.69482005C>T Copied from the Exome Variant Server CYB5B_000018 1/11956 1/8200 0/3756 - - - - - - -
?/? c.310C>G r.(?) p.(Leu104Val) g.69482024C>G Copied from the Exome Variant Server CYB5B_000019 1/12054 1/8238 0/3816 - - - - - - -
?/? c.333+63G>A r.(=) p.(=) g.69482110G>A Copied from the Exome Variant Server CYB5B_000020 1/4566 1/3182 0/1384 - - - - - - -
?/? c.334-34_334-31del r.(=) p.(=) g.69492962_69492965del Copied from the Exome Variant Server CYB5B_000021 15/11242 2/7788 13/3454 - - - - - - -
?/? c.334-22del r.(=) p.(=) g.69492974del Copied from the Exome Variant Server CYB5B_000023 240/11204 191/7762 49/3442 - - - - - - -
?/? c.334-22dup r.(=) p.(=) g.69492974dup Copied from the Exome Variant Server CYB5B_000022 5508/11204 3754/7762 1754/3442 - - - - - - -
?/? c.334-22_334-21insTT r.(=) p.(=) g.69492974_69492975insTT Copied from the Exome Variant Server CYB5B_000025 605/11204 398/7762 207/3442 - - - - - - -
?/? c.334-22_334-21insTTTTT r.(=) p.(=) g.69492974_69492975insTTTTT Copied from the Exome Variant Server CYB5B_000024 444/11204 313/7762 131/3442 - - - - - - -
?/? c.342A>C r.(=) p.(=) g.69493004A>C Copied from the Exome Variant Server CYB5B_000026 806/11710 684/8132 122/3578 - - - - - - -
?/? c.348T>C r.(=) p.(=) g.69493010T>C Copied from the Exome Variant Server CYB5B_000027 1/11722 1/8138 0/3584 - - - - - - -
?/? c.354A>G r.(=) p.(=) g.69493016A>G Copied from the Exome Variant Server CYB5B_000028 276/11740 254/8144 22/3596 - - - - - - -
?/? c.362+26A>G r.(=) p.(=) g.69493050A>G Copied from the Exome Variant Server CYB5B_000029 1/11796 0/8154 1/3642 - - - - - - -
?/? c.362+29C>T r.(=) p.(=) g.69493053C>T Copied from the Exome Variant Server CYB5B_000030 2/11798 2/8154 0/3644 - - - - - - -
?/? c.362+30G>A r.(=) p.(=) g.69493054G>A Copied from the Exome Variant Server CYB5B_000031 6/11802 0/8154 6/3648 - - - - - - -
?/? c.362+36G>A r.(=) p.(=) g.69493060G>A Copied from the Exome Variant Server CYB5B_000032 10/11802 10/8154 0/3648 - - - - - - -
?/? c.362+62A>G r.(=) p.(=) g.69493086A>G Copied from the Exome Variant Server CYB5B_000033 6/4558 0/3174 6/1384 - - - - - - -
?/? c.363-10C>G r.(=) p.(=) g.69496323C>G Copied from the Exome Variant Server CYB5B_000034 1/11806 1/8144 0/3662 - - - - - - -
?/? c.396C>A r.(=) p.(=) g.69496366C>A Copied from the Exome Variant Server CYB5B_000035 1/11882 0/8176 1/3706 - - - - - - -
?/? c.400G>C r.(?) p.(Val134Leu) g.69496370G>C Copied from the Exome Variant Server CYB5B_000036 1/11900 1/8184 0/3716 - - - - - - -
?/? c.422G>A r.(?) p.(Arg141His) g.69496392G>A Copied from the Exome Variant Server CYB5B_000037 1/11940 0/8204 1/3736 - - - - - - -
?/? c.439A>G r.(?) p.(Ser147Gly) g.69496409A>G Copied from the Exome Variant Server CYB5B_000038 1/11962 0/8214 1/3748 - - - - - - -
?/? c.*4G>A r.(=) p.(=) g.69496427G>A Copied from the Exome Variant Server CYB5B_000039 2/12014 2/8228 0/3786 - - - - - - -
?/? c.*52G>C r.(=) p.(=) g.69496475G>C Copied from the Exome Variant Server CYB5B_000040 2/6348 0/4274 2/2074 - - - - - - -
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