Full data view for gene MT1H

Information The variants shown are described using the NM_005951.2 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.-47G>A r.(=) p.(=) g.56703750G>A Copied from the Exome Variant Server MT1H_000001 1/12996 1/8600 0/4396 - - - - - - -
?/? c.-29T>C r.(=) p.(=) g.56703768T>C Copied from the Exome Variant Server MT1H_000002 3/12996 0/8600 3/4396 - - - - - - -
?/? c.-25A>C r.(=) p.(=) g.56703772A>C Copied from the Exome Variant Server MT1H_000003 53/12996 0/8600 53/4396 - - - - - - -
?/? c.2T>C r.? p.? g.56703798T>C Copied from the Exome Variant Server MT1H_000004 44/12996 0/8600 44/4396 - - - - - - -
?/? c.11A>G r.(?) p.(Asn4Ser) g.56703807A>G Copied from the Exome Variant Server MT1H_000005 75/12996 0/8600 75/4396 - - - - - - -
?/? c.28+10G>A r.(=) p.(=) g.56703834G>A Copied from the Exome Variant Server MT1H_000006 1/12996 1/8600 0/4396 - - - - - - -
?/? c.28+38A>G r.(=) p.(=) g.56703862A>G Copied from the Exome Variant Server MT1H_000007 1/12996 0/8600 1/4396 - - - - - - -
?/? c.28+63C>T r.(=) p.(=) g.56703887C>T Copied from the Exome Variant Server MT1H_000008 34/4566 0/3182 34/1384 - - - - - - -
?/? c.29-46T>G r.(=) p.(=) g.56704372T>G Copied from the Exome Variant Server MT1H_000009 1/12996 1/8600 0/4396 - - - - - - -
?/? c.29-42G>C r.(=) p.(=) g.56704376G>C Copied from the Exome Variant Server MT1H_000010 40/12996 0/8600 40/4396 - - - - - - -
?/? c.29-11A>G r.(=) p.(=) g.56704407A>G Copied from the Exome Variant Server MT1H_000011 1/12996 1/8600 0/4396 - - - - - - -
?/? c.32G>A r.(?) p.(Gly11Asp) g.56704421G>A Copied from the Exome Variant Server MT1H_000012 1/12996 1/8600 0/4396 - - - - - - -
?/? c.39C>T r.(=) p.(=) g.56704428C>T Copied from the Exome Variant Server MT1H_000013 7/12996 0/8600 7/4396 - - - - - - -
?/? c.41C>G r.(?) p.(Ala14Gly) g.56704430C>G Copied from the Exome Variant Server MT1H_000014 1/12996 0/8600 1/4396 - - - - - - -
?/? c.46G>A r.(?) p.(Ala16Thr) g.56704435G>A Copied from the Exome Variant Server MT1H_000015 1/12996 0/8600 1/4396 - - - - - - -
?/? c.48C>T r.(=) p.(=) g.56704437C>T Copied from the Exome Variant Server MT1H_000016 2/12996 2/8600 0/4396 - - - - - - -
?/? c.49G>A r.(?) p.(Gly17Ser) g.56704438G>A Copied from the Exome Variant Server MT1H_000017 431/12996 18/8600 413/4396 - - - - - - -
?/? c.50G>A r.(?) p.(Gly17Asp) g.56704439G>A Copied from the Exome Variant Server MT1H_000018 2/12996 2/8600 0/4396 - - - - - - -
?/? c.94+23G>T r.(=) p.(=) g.56704506G>T Copied from the Exome Variant Server MT1H_000019 1/12990 1/8594 0/4396 - - - - - - -
?/? c.95-42C>G r.(=) p.(=) g.56704768C>G Copied from the Exome Variant Server MT1H_000020 95/12996 4/8600 91/4396 - - - - - - -
?/? c.95-37C>G r.(=) p.(=) g.56704773C>G Copied from the Exome Variant Server MT1H_000021 1/12996 0/8600 1/4396 - - - - - - -
?/? c.95-15del r.(=) p.(=) g.56704795del Copied from the Exome Variant Server MT1H_000022 2/12518 2/8254 0/4264 - - - - - - -
?/? c.95-12C>T r.(=) p.(=) g.56704798C>T Copied from the Exome Variant Server MT1H_000023 10/12996 8/8600 2/4396 - - - - - - -
?/? c.107G>C r.(?) p.(Cys36Ser) g.56704822G>C Copied from the Exome Variant Server MT1H_000024 1/12996 1/8600 0/4396 - - - - - - -
?/? c.111del r.(?) p.(Leu39Trpfs*59) g.56704826del Copied from the Exome Variant Server MT1H_000025 126/12518 76/8254 50/4264 - - - - - - -
?/? c.115C>G r.(?) p.(Leu39Val) g.56704830C>G Copied from the Exome Variant Server MT1H_000026 99/12996 4/8600 95/4396 - - - - - - -
?/? c.135C>A r.(=) p.(=) g.56704850C>A Copied from the Exome Variant Server MT1H_000027 1/12996 0/8600 1/4396 - - - - - - -
?/? c.137A>C r.(?) p.(Gln46Pro) g.56704852A>C Copied from the Exome Variant Server MT1H_000028 196/12996 4/8600 192/4396 - - - - - - -
?/? c.140_142del r.(?) p.(Cys48del) g.56704855_56704857del Copied from the Exome Variant Server MT1H_000029 1/12518 1/8254 0/4264 - - - - - - -
?/? c.*41C>T r.(=) p.(=) g.56704942C>T Copied from the Exome Variant Server MT1H_000030 2/12996 1/8600 1/4396 - - - - - - -
?/? c.*42G>A r.(=) p.(=) g.56704943G>A Copied from the Exome Variant Server MT1H_000031 1/12996 1/8600 0/4396 - - - - - - -
?/? c.*55del r.(=) p.(=) g.56704956del Copied from the Exome Variant Server MT1H_000033 112/12518 83/8254 29/4264 - - - - - - -
?/? c.*55dup r.(=) p.(=) g.56704956dup Copied from the Exome Variant Server MT1H_000032 827/12518 427/8254 400/4264 - - - - - - -
?/? c.*55_*56insTT r.(=) p.(=) g.56704956_56704957insTT Copied from the Exome Variant Server MT1H_000035 8/12518 4/8254 4/4264 - - - - - - -
?/? c.*55_*56insTTT r.(=) p.(=) g.56704956_56704957insTTT Copied from the Exome Variant Server MT1H_000034 30/12518 23/8254 7/4264 - - - - - - -
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