Full data view for gene CYBB

Information The variants shown are described using the NM_000397.3 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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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.6G>C r.(=) p.(=) g.37639336G>C Copied from the Exome Variant Server CYBB_000001 1/10561 0/6728 1/3833 - - - - - - -
?/? c.45+35T>C r.(=) p.(=) g.37639410T>C Copied from the Exome Variant Server CYBB_000002 1/10560 0/6728 1/3832 - - - - - - -
?/? c.45+44G>A r.(=) p.(=) g.37639419G>A Copied from the Exome Variant Server CYBB_000004 1/10560 1/6728 0/3832 - - - - - - -
?/? c.45+55del r.(=) p.(=) g.37639430del Copied from the Exome Variant Server CYBB_000006 3/10205 3/6484 0/3721 - - - - - - -
?/? c.46-33G>A r.(=) p.(=) g.37641308G>A Copied from the Exome Variant Server CYBB_000008 11/10561 0/6728 11/3833 - - - - - - -
?/? c.46-7T>C r.(=) p.(=) g.37641334T>C Copied from the Exome Variant Server CYBB_000009 8/10561 0/6728 8/3833 - - - - - - -
?/? c.66C>T r.(=) p.(=) g.37641361C>T Copied from the Exome Variant Server CYBB_000011 1/10561 1/6728 0/3833 - - - - - - -
?/? c.141+24C>A r.(=) p.(=) g.37641460C>A Copied from the Exome Variant Server CYBB_000013 1/10561 0/6728 1/3833 - - - - - - -
?/? c.141+41C>A r.(=) p.(=) g.37641477C>A Copied from the Exome Variant Server CYBB_000015 4/10561 0/6728 4/3833 - - - - - - -
?/? c.141+42A>G r.(=) p.(=) g.37641478A>G Copied from the Exome Variant Server CYBB_000017 2/10561 2/6728 0/3833 - - - - - - -
?/? c.141+48C>G r.(=) p.(=) g.37641484C>G Copied from the Exome Variant Server CYBB_000019 561/10561 519/6728 42/3833 - - - - - - -
?/? c.142-44T>G r.(=) p.(=) g.37642699T>G Copied from the Exome Variant Server CYBB_000003 3/10559 0/6727 3/3832 - - - - - - -
?/? c.142-40C>T r.(=) p.(=) g.37642703C>T Copied from the Exome Variant Server CYBB_000005 1/10560 1/6727 0/3833 - - - - - - -
?/? c.142-6T>C r.(=) p.(=) g.37642737T>C Copied from the Exome Variant Server CYBB_000007 2/10561 2/6728 0/3833 - - - - - - -
?/? c.223C>A r.(?) p.(Leu75Met) g.37642824C>A Copied from the Exome Variant Server CYBB_000010 1/10561 0/6728 1/3833 - - - - - - -
?/? c.252+42G>A r.(=) p.(=) g.37642895G>A Copied from the Exome Variant Server CYBB_000012 1/10561 0/6728 1/3833 - - - - - - -
?/? c.252+49A>G r.(=) p.(=) g.37642902A>G Copied from the Exome Variant Server CYBB_000014 218/10561 1/6728 217/3833 - - - - - - -
?/? c.253-52C>T r.(=) p.(=) g.37651176C>T Copied from the Exome Variant Server CYBB_000016 4/8123 3/5498 1/2625 - - - - - - -
?/? c.253-31A>G r.(=) p.(=) g.37651197A>G Copied from the Exome Variant Server CYBB_000018 4/10561 4/6728 0/3833 - - - - - - -
?/? c.253-7T>C r.(=) p.(=) g.37651221T>C Copied from the Exome Variant Server CYBB_000020 1/10561 1/6728 0/3833 - - - - - - -
?/? c.260C>T r.(?) p.(Ser87Leu) g.37651235C>T Copied from the Exome Variant Server CYBB_000021 1/10561 1/6728 0/3833 - - - - - - -
?/? c.282G>T r.(=) p.(=) g.37651257G>T Copied from the Exome Variant Server CYBB_000022 1/10561 0/6728 1/3833 - - - - - - -
?/? c.338-13C>T r.(=) p.(=) g.37652905C>T Copied from the Exome Variant Server CYBB_000023 9/10561 9/6728 0/3833 - - - - - - -
?/? c.508G>T r.(?) p.(Ala170Ser) g.37655228G>T Copied from the Exome Variant Server CYBB_000024 1/10561 1/6728 0/3833 - - - - - - -
?/? c.593G>A r.(?) p.(Arg198Gln) g.37655313G>A Copied from the Exome Variant Server CYBB_000025 1/10561 0/6728 1/3833 - - - - - - -
?/? c.621C>T r.(=) p.(=) g.37655341C>T Copied from the Exome Variant Server CYBB_000026 1/10561 1/6728 0/3833 - - - - - - -
?/? c.654C>A r.(=) p.(=) g.37655374C>A Copied from the Exome Variant Server CYBB_000028 32/10561 0/6728 32/3833 - - - - - - -
?/? c.686G>A r.(?) p.(Arg229His) g.37658219G>A Copied from the Exome Variant Server CYBB_000030 13/10556 0/6726 13/3830 - - - - - - -
?/? c.697G>T r.(?) p.(Ala233Ser) g.37658230G>T Copied from the Exome Variant Server CYBB_000032 1/10559 0/6727 1/3832 - - - - - - -
?/? c.804+52C>T r.(=) p.(=) g.37658389C>T Copied from the Exome Variant Server CYBB_000034 58/6036 1/3621 57/2415 - - - - - - -
?/? c.897+20T>C r.(=) p.(=) g.37660621T>C Copied from the Exome Variant Server CYBB_000036 2/10561 1/6728 1/3833 - - - - - - -
?/? c.945G>A r.(=) p.(=) g.37663177G>A Copied from the Exome Variant Server CYBB_000038 1/10561 1/6728 0/3833 - - - - - - -
?/? c.948G>T r.(=) p.(=) g.37663180G>T Copied from the Exome Variant Server CYBB_000040 1/10561 0/6728 1/3833 - - - - - - -
?/? c.969A>G r.(=) p.(=) g.37663201A>G Copied from the Exome Variant Server CYBB_000042 3/10561 0/6728 3/3833 - - - - - - -
?/? c.996G>T r.(=) p.(=) g.37663228G>T Copied from the Exome Variant Server CYBB_000043 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1002G>A r.(=) p.(=) g.37663234G>A Copied from the Exome Variant Server CYBB_000045 709/10561 2/6728 707/3833 - - - - - - -
?/? c.1090G>C r.(?) p.(Gly364Arg) g.37663322G>C Copied from the Exome Variant Server CYBB_000027 36/10561 34/6728 2/3833 - - - - - - -
?/? c.1152-46A>G r.(=) p.(=) g.37664213A>G Copied from the Exome Variant Server CYBB_000029 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1152-41C>T r.(=) p.(=) g.37664218C>T Copied from the Exome Variant Server CYBB_000031 3/10561 3/6728 0/3833 - - - - - - -
?/? c.1158G>A r.(=) p.(=) g.37664265G>A Copied from the Exome Variant Server CYBB_000033 3/10561 3/6728 0/3833 - - - - - - -
?/? c.1159G>A r.(?) p.(Val387Ile) g.37664266G>A Copied from the Exome Variant Server CYBB_000035 5/10561 0/6728 5/3833 - - - - - - -
?/? c.1314+16T>C r.(=) p.(=) g.37664437T>C Copied from the Exome Variant Server CYBB_000037 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1314+19C>T r.(=) p.(=) g.37664440C>T Copied from the Exome Variant Server CYBB_000039 491/10561 5/6728 486/3833 - - - - - - -
?/? c.1314+20G>A r.(=) p.(=) g.37664441G>A Copied from the Exome Variant Server CYBB_000041 33/10561 0/6728 33/3833 - - - - - - -
?/? c.1314+39_1314+40insC r.(=) p.(=) g.37664460_37664461insC Copied from the Exome Variant Server CYBB_000044 5/10205 5/6484 0/3721 - - - - - - -
?/? c.1314+40C>T r.(=) p.(=) g.37664461C>T Copied from the Exome Variant Server CYBB_000046 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1314+42A>G r.(=) p.(=) g.37664463A>G Copied from the Exome Variant Server CYBB_000047 2/10561 0/6728 2/3833 - - - - - - -
?/? c.1314+52A>G r.(=) p.(=) g.37664473A>G Copied from the Exome Variant Server CYBB_000048 8/6036 7/3621 1/2415 - - - - - - -
?/? c.1315-29A>T r.(=) p.(=) g.37665611A>T Copied from the Exome Variant Server CYBB_000049 1/10561 0/6728 1/3833 - - - - - - -
?/? c.1315-25G>A r.(=) p.(=) g.37665615G>A Copied from the Exome Variant Server CYBB_000050 6/10561 6/6728 0/3833 - - - - - - -
?/? c.1322T>C r.(?) p.(Phe441Ser) g.37665647T>C Copied from the Exome Variant Server CYBB_000051 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1376A>G r.(?) p.(Gln459Arg) g.37665701A>G Copied from the Exome Variant Server CYBB_000052 2/10561 0/6728 2/3833 - - - - - - -
?/? c.1461+17del r.(=) p.(=) g.37665803del Copied from the Exome Variant Server CYBB_000053 3/10205 2/6484 1/3721 - - - - - - -
?/? c.1461+28C>T r.(=) p.(=) g.37665814C>T Copied from the Exome Variant Server CYBB_000054 2/10561 1/6728 1/3833 - - - - - - -
?/? c.1462-33_1462-32insT r.(=) p.(=) g.37668787_37668788insT Copied from the Exome Variant Server CYBB_000055 38/10187 27/6470 11/3717 - - - - - - -
?/? c.1462-7C>A r.(=) p.(=) g.37668813C>A Copied from the Exome Variant Server CYBB_000057 2/10556 0/6723 2/3833 - - - - - - -
?/? c.1477G>A r.(?) p.(Val493Met) g.37668835G>A Copied from the Exome Variant Server CYBB_000058 1/10559 0/6726 1/3833 - - - - - - -
?/? c.1496A>C r.(?) p.(Lys499Thr) g.37668854A>C Copied from the Exome Variant Server CYBB_000059 2/10559 1/6726 1/3833 - - - - - - -
?/? c.1551T>A r.(?) p.(Asp517Glu) g.37668909T>A Copied from the Exome Variant Server CYBB_000060 16/10561 15/6728 1/3833 - - - - - - -
?/? c.1587-6C>T r.(=) p.(=) g.37670038C>T Copied from the Exome Variant Server CYBB_000061 1/10561 0/6728 1/3833 - - - - - - -
?/? c.1634C>A r.(?) p.(Thr545Asn) g.37670091C>A Copied from the Exome Variant Server CYBB_000062 1/10561 0/6728 1/3833 - - - - - - -
?/? c.1701G>A r.(=) p.(=) g.37670158G>A Copied from the Exome Variant Server CYBB_000056 3/10561 0/6728 3/3833 - - - - - - -
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