Full data view for gene AAMDC

Information The variants shown are described using the NM_024684.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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.6T>G r.(=) p.(=) g.77553548T>G Copied from the Exome Variant Server AAMDC_000001 1/12984 0/8584 1/4400 - - - - - - -
?/? c.37C>A r.(?) p.(Gln13Lys) g.77553579C>A Copied from the Exome Variant Server AAMDC_000002 1/12984 1/8584 0/4400 - - - - - - -
?/? c.53G>C r.(?) p.(Gly18Ala) g.77553595G>C Copied from the Exome Variant Server AAMDC_000003 5/12984 4/8584 1/4400 - - - - - - -
?/? c.65C>G r.(?) p.(Thr22Ser) g.77553607C>G Copied from the Exome Variant Server AAMDC_000004 1/12984 0/8584 1/4400 - - - - - - -
?/? c.73G>A r.(?) p.(Asp25Asn) g.77553615G>A Copied from the Exome Variant Server AAMDC_000005 1/12984 1/8584 0/4400 - - - - - - -
?/? c.92G>T r.(?) p.(Gly31Val) g.77553634G>T Copied from the Exome Variant Server AAMDC_000006 1/12984 1/8584 0/4400 - - - - - - -
?/? c.96T>C r.(=) p.(=) g.77553638T>C Copied from the Exome Variant Server AAMDC_000007 5458/12984 3162/8584 2296/4400 - - - - - - -
?/? c.107G>A r.(?) p.(Trp36*) g.77553649G>A Copied from the Exome Variant Server AAMDC_000008 1/12984 0/8584 1/4400 - - - - - - -
?/? c.109G>A r.(?) p.(Asp37Asn) g.77553651G>A Copied from the Exome Variant Server AAMDC_000009 1/12984 1/8584 0/4400 - - - - - - -
?/? c.115A>G r.(?) p.(Arg39Gly) g.77553657A>G Copied from the Exome Variant Server AAMDC_000010 1/12984 1/8584 0/4400 - - - - - - -
?/? c.132+9T>C r.(=) p.(=) g.77553683T>C Copied from the Exome Variant Server AAMDC_000011 1/12984 1/8584 0/4400 - - - - - - -
?/? c.132+10T>C r.(=) p.(=) g.77553684T>C Copied from the Exome Variant Server AAMDC_000012 1/12984 0/8584 1/4400 - - - - - - -
?/? c.142G>C r.(?) p.(Gly48Arg) g.77580777G>C Copied from the Exome Variant Server AAMDC_000013 2/12984 2/8584 0/4400 - - - - - - -
?/? c.146T>C r.(?) p.(Val49Ala) g.77580781T>C Copied from the Exome Variant Server AAMDC_000014 17/12984 0/8584 17/4400 - - - - - - -
?/? c.169G>A r.(?) p.(Val57Ile) g.77580804G>A Copied from the Exome Variant Server AAMDC_000015 1/12984 0/8584 1/4400 - - - - - - -
?/? c.228G>A r.(=) p.(=) g.77580863G>A Copied from the Exome Variant Server AAMDC_000016 4/12984 0/8584 4/4400 - - - - - - -
?/? c.228+8T>C r.(=) p.(=) g.77580871T>C Copied from the Exome Variant Server AAMDC_000017 1/12984 1/8584 0/4400 - - - - - - -
?/? c.228+18C>T r.(=) p.(=) g.77580881C>T Copied from the Exome Variant Server AAMDC_000018 1/12984 0/8584 1/4400 - - - - - - -
?/? c.229-46del r.(=) p.(=) g.77583175del Copied from the Exome Variant Server AAMDC_000019 2/12518 2/8254 0/4264 - - - - - - -
?/? c.229-44G>T r.(=) p.(=) g.77583177G>T Copied from the Exome Variant Server AAMDC_000020 1/12984 0/8584 1/4400 - - - - - - -
?/? c.274G>A r.(?) p.(Val92Met) g.77583266G>A Copied from the Exome Variant Server AAMDC_000021 1353/12984 827/8584 526/4400 - - - - - - -
?/? c.277C>T r.(?) p.(Arg93Trp) g.77583269C>T Copied from the Exome Variant Server AAMDC_000022 1/12984 1/8584 0/4400 - - - - - - -
?/? c.288G>A r.(=) p.(=) g.77583280G>A Copied from the Exome Variant Server AAMDC_000023 3/12984 3/8584 0/4400 - - - - - - -
?/? c.321G>T r.(?) p.(Leu107Phe) g.77583313G>T Copied from the Exome Variant Server AAMDC_000024 1/12984 0/8584 1/4400 - - - - - - -
?/? c.*15G>A r.(=) p.(=) g.77583376G>A Copied from the Exome Variant Server AAMDC_000025 2979/12984 2038/8584 941/4400 - - - - - - -
?/? c.*18A>G r.(=) p.(=) g.77583379A>G Copied from the Exome Variant Server AAMDC_000026 44/12984 43/8584 1/4400 - - - - - - -
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