Full data view for gene MMGT1

Information The variants shown are described using the NM_173470.1 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.-49G>A r.(=) p.(=) g.135055883C>T Copied from the Exome Variant Server MMGT1_000016 1/8045 0/4987 1/3058 - - - - - - -
?/? c.-32T>C r.(=) p.(=) g.135055866A>G Copied from the Exome Variant Server MMGT1_000015 1/8424 1/5224 0/3200 - - - - - - -
?/? c.79+20G>A r.(=) p.(=) g.135055736C>T Copied from the Exome Variant Server MMGT1_000014 2/8131 0/5055 2/3076 - - - - - - -
?/? c.132+22C>T r.(=) p.(=) g.135053195G>A Copied from the Exome Variant Server MMGT1_000013 1/10559 0/6726 1/3833 - - - - - - -
?/? c.132+38A>C r.(=) p.(=) g.135053179T>G Copied from the Exome Variant Server MMGT1_000012 2/10559 2/6726 0/3833 - - - - - - -
?/? c.132+73del r.(=) p.(=) g.135053144del Copied from the Exome Variant Server MMGT1_000011 199/10193 125/6472 74/3721 - - - - - - -
?/? c.132+73dup r.(=) p.(=) g.135053144dup Copied from the Exome Variant Server MMGT1_000010 30/10193 9/6472 21/3721 - - - - - - -
?/? c.133-42_133-40del r.(=) p.(=) g.135049692_135049694del Copied from the Exome Variant Server MMGT1_000009 61/10185 0/6480 61/3705 - - - - - - -
?/? c.133-30A>G r.(=) p.(=) g.135049682T>C Copied from the Exome Variant Server MMGT1_000008 3/10559 3/6726 0/3833 - - - - - - -
?/? c.219T>C r.(=) p.(=) g.135049566A>G Copied from the Exome Variant Server MMGT1_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.236+25A>G r.(=) p.(=) g.135049524T>C Copied from the Exome Variant Server MMGT1_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.237-32A>G r.(=) p.(=) g.135047374T>C Copied from the Exome Variant Server MMGT1_000005 1/10562 1/6727 0/3835 - - - - - - -
?/? c.311C>T r.(?) p.(Ser104Leu) g.135047268G>A Copied from the Exome Variant Server MMGT1_000004 2/10563 1/6728 1/3835 - - - - - - -
?/? c.322A>C r.(?) p.(Asn108His) g.135047257T>G Copied from the Exome Variant Server MMGT1_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.370C>T r.(?) p.(Arg124*) g.135047209G>A Copied from the Exome Variant Server MMGT1_000002 2/10563 1/6728 1/3835 - - - - - - -
?/? c.*2A>G r.(=) p.(=) g.135047181T>C Copied from the Exome Variant Server MMGT1_000001 1/10563 1/6728 0/3835 - - - - - - -
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