Unique variants in gene CACYBP

Information The variants shown are described using the NM_014412.2 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-46C>T r.(=) p.(=) g.174969271C>T Copied from the Exome Variant Server CACYBP_000001 10018/12982 5938/8582 4080/4400
1 c.-40G>T r.(=) p.(=) g.174969277G>T Copied from the Exome Variant Server CACYBP_000002 215/12984 0/8588 215/4396
1 c.-34del r.(=) p.(=) g.174969283del Copied from the Exome Variant Server CACYBP_000003 1/12496 1/8242 0/4254
1 c.-21C>T r.(=) p.(=) g.174969296C>T Copied from the Exome Variant Server CACYBP_000004 1/12990 0/8596 1/4394
1 c.16-24A>G r.(=) p.(=) g.174973726A>G Copied from the Exome Variant Server CACYBP_000005 297/13004 265/8598 32/4406
1 c.16-18T>G r.(=) p.(=) g.174973732T>G Copied from the Exome Variant Server CACYBP_000006 2/13004 2/8598 0/4406
1 c.37G>T r.(?) p.(Val13Leu) g.174973771G>T Copied from the Exome Variant Server CACYBP_000007 5/13006 0/8600 5/4406
1 c.43G>T r.(?) p.(Val15Leu) g.174973777G>T Copied from the Exome Variant Server CACYBP_000008 117/13006 0/8600 117/4406
1 c.148A>T r.(?) p.(Lys50*) g.174973882A>T Copied from the Exome Variant Server CACYBP_000009 1/13006 1/8600 0/4406
1 c.187G>A r.(?) p.(Val63Met) g.174973921G>A Copied from the Exome Variant Server CACYBP_000010 1/13002 1/8596 0/4406
1 c.195T>C r.(=) p.(=) g.174973929T>C Copied from the Exome Variant Server CACYBP_000012 1/13002 0/8596 1/4406
1 c.206C>T r.(?) p.(Thr69Met) g.174973940C>T Copied from the Exome Variant Server CACYBP_000014 1/13006 0/8600 1/4406
1 c.236-27C>T r.(=) p.(=) g.174975854C>T Copied from the Exome Variant Server CACYBP_000016 1/13006 0/8600 1/4406
1 c.236-26G>A r.(=) p.(=) g.174975855G>A Copied from the Exome Variant Server CACYBP_000018 1/13006 1/8600 0/4406
1 c.236-9C>T r.(=) p.(=) g.174975872C>T Copied from the Exome Variant Server CACYBP_000020 1/13006 0/8600 1/4406
1 c.236G>T r.(?) p.(Gly79Val) g.174975881G>T Copied from the Exome Variant Server CACYBP_000021 1/13006 0/8600 1/4406
1 c.301A>C r.(?) p.(Thr101Pro) g.174975946A>C Copied from the Exome Variant Server CACYBP_000023 1/13006 1/8600 0/4406
1 c.306G>C r.(?) p.(Glu102Asp) g.174975951G>C Copied from the Exome Variant Server CACYBP_000025 1/13006 1/8600 0/4406
1 c.312G>A r.(=) p.(=) g.174975957G>A Copied from the Exome Variant Server CACYBP_000011 1/13006 0/8600 1/4406
1 c.327A>G r.(=) p.(=) g.174975972A>G Copied from the Exome Variant Server CACYBP_000013 288/13006 4/8600 284/4406
1 c.332+8C>G r.(=) p.(=) g.174975985C>G Copied from the Exome Variant Server CACYBP_000015 3/13006 0/8600 3/4406
1 c.332+11_332+13del r.(=) p.(=) g.174975988_174975990del Copied from the Exome Variant Server CACYBP_000017 2/12518 0/8252 2/4266
1 c.332+44A>G r.(=) p.(=) g.174976021A>G Copied from the Exome Variant Server CACYBP_000019 3/13004 2/8598 1/4406
1 c.333-50G>A r.(=) p.(=) g.174976184G>A Copied from the Exome Variant Server CACYBP_000022 2249/13006 25/8600 2224/4406
1 c.333-47A>G r.(=) p.(=) g.174976187A>G Copied from the Exome Variant Server CACYBP_000024 1/13006 0/8600 1/4406
1 c.363T>C r.(=) p.(=) g.174976264T>C Copied from the Exome Variant Server CACYBP_000026 1/13006 1/8600 0/4406
1 c.410C>G r.(?) p.(Ser137Cys) g.174976311C>G Copied from the Exome Variant Server CACYBP_000027 1/13006 1/8600 0/4406
1 c.433-44T>G r.(=) p.(=) g.174977701T>G Copied from the Exome Variant Server CACYBP_000028 1/13004 0/8598 1/4406
1 c.433-27_433-26insT r.(=) p.(=) g.174977718_174977719insT Copied from the Exome Variant Server CACYBP_000029 1/12520 1/8254 0/4266
1 c.514G>A r.(?) p.(Glu172Lys) g.174977826G>A Copied from the Exome Variant Server CACYBP_000030 4/13006 4/8600 0/4406
1 c.530+9A>G r.(=) p.(=) g.174977851A>G Copied from the Exome Variant Server CACYBP_000031 147/13006 2/8600 145/4406
1 c.530+10del r.(=) p.(=) g.174977852del Copied from the Exome Variant Server CACYBP_000032 1/12520 0/8254 1/4266
1 c.530+38A>G r.(=) p.(=) g.174977880A>G Copied from the Exome Variant Server CACYBP_000033 1/13006 1/8600 0/4406
1 c.531-45C>A r.(=) p.(=) g.174979014C>A Copied from the Exome Variant Server CACYBP_000034 4/12966 4/8590 0/4376
1 c.531-35G>A r.(=) p.(=) g.174979024G>A Copied from the Exome Variant Server CACYBP_000035 2/12984 1/8596 1/4388
1 c.531-27A>G r.(=) p.(=) g.174979032A>G Copied from the Exome Variant Server CACYBP_000036 73/12992 65/8598 8/4394
1 c.531-21G>C r.(=) p.(=) g.174979038G>C Copied from the Exome Variant Server CACYBP_000037 1/13002 0/8600 1/4402
1 c.559C>T r.(?) p.(Pro187Ser) g.174979087C>T Copied from the Exome Variant Server CACYBP_000038 2/13004 1/8598 1/4406
1 c.614A>T r.(?) p.(Asp205Val) g.174979142A>T Copied from the Exome Variant Server CACYBP_000039 2/13006 2/8600 0/4406
1 c.643G>C r.(?) p.(Val215Leu) g.174979171G>C Copied from the Exome Variant Server CACYBP_000040 13/13006 12/8600 1/4406
1 c.671G>C r.(?) p.(Gly224Ala) g.174979199G>C Copied from the Exome Variant Server CACYBP_000041 1/13006 0/8600 1/4406
1 c.*12C>T r.(=) p.(=) g.174979227C>T Copied from the Exome Variant Server CACYBP_000042 1/13006 1/8600 0/4406
1 c.*50T>C r.(=) p.(=) g.174979265T>C Copied from the Exome Variant Server CACYBP_000043 1/13006 0/8600 1/4406
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