Full data view for gene NDUFB7

Information The variants shown are described using the NM_004146.5 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.-45C>G r.(=) p.(=) g.14682857G>C Copied from the Exome Variant Server NDUFB7_000037 43/12808 1/8484 42/4324 - - - - - - -
?/? c.-39G>C r.(=) p.(=) g.14682851C>G Copied from the Exome Variant Server NDUFB7_000036 97/12862 88/8518 9/4344 - - - - - - -
?/? c.9C>G r.(=) p.(=) g.14682804G>C Copied from the Exome Variant Server NDUFB7_000035 7815/12978 4413/8586 3402/4392 - - - - - - -
?/? c.28C>T r.(=) p.(=) g.14682785G>A Copied from the Exome Variant Server NDUFB7_000034 23/12994 0/8596 23/4398 - - - - - - -
?/? c.46G>T r.(?) p.(Glu16*) g.14682767C>A Copied from the Exome Variant Server NDUFB7_000033 1/12996 1/8594 0/4402 - - - - - - -
?/? c.55C>T r.(?) p.(Pro19Ser) g.14682758G>A Copied from the Exome Variant Server NDUFB7_000032 1/12998 0/8596 1/4402 - - - - - - -
?/? c.56C>T r.(?) p.(Pro19Leu) g.14682757G>A Copied from the Exome Variant Server NDUFB7_000031 1/12998 1/8596 0/4402 - - - - - - -
?/? c.92T>G r.(?) p.(Phe31Cys) g.14682721A>C Copied from the Exome Variant Server NDUFB7_000030 1/13000 0/8596 1/4404 - - - - - - -
?/? c.112+15G>T r.(=) p.(=) g.14682686C>A Copied from the Exome Variant Server NDUFB7_000029 1/12982 0/8588 1/4394 - - - - - - -
?/? c.113-35C>T r.(=) p.(=) g.14677780G>A Copied from the Exome Variant Server NDUFB7_000028 1/12964 0/8576 1/4388 - - - - - - -
?/? c.126A>G r.(=) p.(=) g.14677732T>C Copied from the Exome Variant Server NDUFB7_000027 59/12984 51/8592 8/4392 - - - - - - -
?/? c.144C>T r.(=) p.(=) g.14677714G>A Copied from the Exome Variant Server NDUFB7_000026 6/12976 5/8588 1/4388 - - - - - - -
?/? c.147G>A r.(=) p.(=) g.14677711C>T Copied from the Exome Variant Server NDUFB7_000025 25/12980 23/8590 2/4390 - - - - - - -
?/? c.184C>T r.(?) p.(His62Tyr) g.14677674G>A Copied from the Exome Variant Server NDUFB7_000024 4/12976 0/8586 4/4390 - - - - - - -
?/? c.193C>T r.(?) p.(Arg65Trp) g.14677665G>A Copied from the Exome Variant Server NDUFB7_000023 1/12974 0/8582 1/4392 - - - - - - -
?/? c.232C>G r.(?) p.(Leu78Val) g.14677626G>C Copied from the Exome Variant Server NDUFB7_000022 1/12792 0/8488 1/4304 - - - - - - -
?/? c.255C>T r.(=) p.(=) g.14677603G>A Copied from the Exome Variant Server NDUFB7_000021 1/12380 0/8168 1/4212 - - - - - - -
?/? c.270C>T r.(=) p.(=) g.14677588G>A Copied from the Exome Variant Server NDUFB7_000020 1/12044 1/7930 0/4114 - - - - - - -
?/? c.270_271insC r.(?) p.(Glu91Argfs*13) g.14677587_14677588insG Copied from the Exome Variant Server NDUFB7_000019 1/11486 1/7558 0/3928 - - - - - - -
?/? c.281+32del r.(=) p.(=) g.14677545del Copied from the Exome Variant Server NDUFB7_000018 18/9466 5/6150 13/3316 - - - - - - -
?/? c.282-30C>G r.(=) p.(=) g.14677107G>C Copied from the Exome Variant Server NDUFB7_000017 1/12988 1/8588 0/4400 - - - - - - -
?/? c.282-15G>A r.(=) p.(=) g.14677092C>T Copied from the Exome Variant Server NDUFB7_000016 1/13000 0/8594 1/4406 - - - - - - -
?/? c.293G>A r.(?) p.(Arg98His) g.14677066C>T Copied from the Exome Variant Server NDUFB7_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.308A>C r.(?) p.(Glu103Ala) g.14677051T>G Copied from the Exome Variant Server NDUFB7_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.317G>A r.(?) p.(Arg106Gln) g.14677042C>T Copied from the Exome Variant Server NDUFB7_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.320G>A r.(?) p.(Arg107Lys) g.14677039C>T Copied from the Exome Variant Server NDUFB7_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.332G>A r.(?) p.(Arg111Gln) g.14677027C>T Copied from the Exome Variant Server NDUFB7_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.337A>C r.(?) p.(Lys113Gln) g.14677022T>G Copied from the Exome Variant Server NDUFB7_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.340C>A r.(=) p.(=) g.14677019G>T Copied from the Exome Variant Server NDUFB7_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.356C>T r.(?) p.(Ala119Val) g.14677003G>A Copied from the Exome Variant Server NDUFB7_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.373G>C r.(?) p.(Gly125Arg) g.14676986C>G Copied from the Exome Variant Server NDUFB7_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.402G>A r.(=) p.(=) g.14676957C>T Copied from the Exome Variant Server NDUFB7_000006 9/12992 3/8592 6/4400 - - - - - - -
?/? c.*4G>A r.(=) p.(=) g.14676941C>T Copied from the Exome Variant Server NDUFB7_000005 498/12994 4/8594 494/4400 - - - - - - -
?/? c.*20A>G r.(=) p.(=) g.14676925T>C Copied from the Exome Variant Server NDUFB7_000004 1/12958 1/8574 0/4384 - - - - - - -
?/? c.*28_*31del r.(=) p.(=) g.14676914_14676917del Copied from the Exome Variant Server NDUFB7_000003 13/12442 4/8218 9/4224 - - - - - - -
?/? c.*40C>T r.(=) p.(=) g.14676905G>A Copied from the Exome Variant Server NDUFB7_000002 23/12920 0/8554 23/4366 - - - - - - -
?/? c.*47G>T r.(=) p.(=) g.14676898C>A Copied from the Exome Variant Server NDUFB7_000001 1/12888 1/8522 0/4366 - - - - - - -
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