Unique variants in gene MAPRE3

Information The variants shown are described using the NM_012326.2 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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.-7-25C>A r.(=) p.(=) g.27245055C>A Copied from the Exome Variant Server MAPRE3_000001 2/13006 0/8600 2/4406
1 c.6C>T r.(=) p.(=) g.27245092C>T Copied from the Exome Variant Server MAPRE3_000002 3/13006 1/8600 2/4406
1 c.75C>T r.(=) p.(=) g.27245161C>T Copied from the Exome Variant Server MAPRE3_000003 9/13006 8/8600 1/4406
1 c.92A>C r.(?) p.(Asn31Thr) g.27245178A>C Copied from the Exome Variant Server MAPRE3_000004 2/13006 0/8600 2/4406
1 c.121+8G>C r.(=) p.(=) g.27245215G>C Copied from the Exome Variant Server MAPRE3_000005 1/13006 0/8600 1/4406
1 c.122-31A>G r.(=) p.(=) g.27246169A>G Copied from the Exome Variant Server MAPRE3_000006 1/13006 1/8600 0/4406
1 c.127G>A r.(?) p.(Ala43Thr) g.27246205G>A Copied from the Exome Variant Server MAPRE3_000007 1/13006 1/8600 0/4406
1 c.160G>A r.(?) p.(Gly54Ser) g.27246238G>A Copied from the Exome Variant Server MAPRE3_000008 2/13006 0/8600 2/4406
1 c.207C>T N/A N/A g.27246285C>T Copied from the Exome Variant Server MAPRE3_000009 11718/13006 7981/8600 3737/4406
1 c.267+13G>A r.(=) p.(=) g.27246358G>A Copied from the Exome Variant Server MAPRE3_000010 14/13006 2/8600 12/4406
1 c.267+31G>A r.(=) p.(=) g.27246376G>A Copied from the Exome Variant Server MAPRE3_000011 1/13006 0/8600 1/4406
1 c.267+37T>C r.(=) p.(=) g.27246382T>C Copied from the Exome Variant Server MAPRE3_000012 1/13006 1/8600 0/4406
1 c.268-40G>A r.(=) p.(=) g.27246924G>A Copied from the Exome Variant Server MAPRE3_000013 3/13006 3/8600 0/4406
1 c.268-33G>A r.(=) p.(=) g.27246931G>A Copied from the Exome Variant Server MAPRE3_000014 1/13006 0/8600 1/4406
1 c.268-21T>C r.(=) p.(=) g.27246943T>C Copied from the Exome Variant Server MAPRE3_000015 3/13006 2/8600 1/4406
1 c.342C>A r.(?) p.(Phe114Leu) g.27247038C>A Copied from the Exome Variant Server MAPRE3_000017 1/13006 0/8600 1/4406
1 c.386C>T r.(?) p.(Ala129Val) g.27247082C>T Copied from the Exome Variant Server MAPRE3_000019 1/13006 1/8600 0/4406
1 c.387G>A r.(=) p.(=) g.27247083G>A Copied from the Exome Variant Server MAPRE3_000021 1/13006 1/8600 0/4406
1 c.396C>A r.(=) p.(=) g.27247092C>A Copied from the Exome Variant Server MAPRE3_000016 2/13006 2/8600 0/4406
1 c.402C>T r.(=) p.(=) g.27247098C>T Copied from the Exome Variant Server MAPRE3_000018 1/13006 1/8600 0/4406
1 c.460G>A r.(?) p.(Gly154Ser) g.27247156G>A Copied from the Exome Variant Server MAPRE3_000020 3/13006 3/8600 0/4406
1 c.469+5C>T r.spl? p.? g.27247170C>T Copied from the Exome Variant Server MAPRE3_000022 1/13006 0/8600 1/4406
1 c.469+17G>A r.(=) p.(=) g.27247182G>A Copied from the Exome Variant Server MAPRE3_000023 2/12984 0/8584 2/4400
1 c.469+25G>A r.(=) p.(=) g.27247190G>A Copied from the Exome Variant Server MAPRE3_000024 1/12976 1/8580 0/4396
1 c.469+29G>A r.(=) p.(=) g.27247194G>A Copied from the Exome Variant Server MAPRE3_000025 2/12942 1/8566 1/4376
1 c.470-49G>A r.(=) p.(=) g.27248402G>A Copied from the Exome Variant Server MAPRE3_000026 3/13006 1/8600 2/4406
1 c.470-46C>T r.(=) p.(=) g.27248405C>T Copied from the Exome Variant Server MAPRE3_000027 46/13006 0/8600 46/4406
1 c.470-32G>A r.(=) p.(=) g.27248419G>A Copied from the Exome Variant Server MAPRE3_000028 1/13006 1/8600 0/4406
1 c.482C>T r.(?) p.(Thr161Met) g.27248463C>T Copied from the Exome Variant Server MAPRE3_000029 1/13006 1/8600 0/4406
1 c.483G>A r.(=) p.(=) g.27248464G>A Copied from the Exome Variant Server MAPRE3_000030 3/13006 2/8600 1/4406
1 c.531T>G r.(?) p.(Asn177Lys) g.27248512T>G Copied from the Exome Variant Server MAPRE3_000031 1/13006 0/8600 1/4406
1 c.535_536insC r.(?) p.(Cys182Leufs*16) g.27248516_27248517insC Copied from the Exome Variant Server MAPRE3_000032 68/12520 29/8254 39/4266
1 c.571G>C r.(?) p.(Ala191Pro) g.27248552G>C Copied from the Exome Variant Server MAPRE3_000033 1/13006 1/8600 0/4406
1 c.583G>A r.(?) p.(Gly195Ser) g.27248564G>A Copied from the Exome Variant Server MAPRE3_000034 1/13006 1/8600 0/4406
1 c.618C>T r.(=) p.(=) g.27248599C>T Copied from the Exome Variant Server MAPRE3_000035 1/13006 1/8600 0/4406
1 c.624+3G>A r.spl? p.? g.27248608G>A Copied from the Exome Variant Server MAPRE3_000036 1/13006 1/8600 0/4406
1 c.624+15T>G r.(=) p.(=) g.27248620T>G Copied from the Exome Variant Server MAPRE3_000037 2/13006 2/8600 0/4406
1 c.625-48A>G r.(=) p.(=) g.27248700A>G Copied from the Exome Variant Server MAPRE3_000038 493/13006 2/8600 491/4406
1 c.625-18C>G r.(=) p.(=) g.27248730C>G Copied from the Exome Variant Server MAPRE3_000039 1/13006 0/8600 1/4406
1 c.755T>C r.(?) p.(Ile252Thr) g.27248878T>C Copied from the Exome Variant Server MAPRE3_000040 1/13006 1/8600 0/4406
1 c.777+15G>A r.(=) p.(=) g.27248915G>A Copied from the Exome Variant Server MAPRE3_000041 1/13006 1/8600 0/4406
1 c.777+20T>C r.(=) p.(=) g.27248920T>C Copied from the Exome Variant Server MAPRE3_000042 12/13006 8/8600 4/4406
1 c.778-10C>T r.(=) p.(=) g.27249138C>T Copied from the Exome Variant Server MAPRE3_000043 105/13006 99/8600 6/4406
1 c.814G>C r.(?) p.(Glu272Gln) g.27249184G>C Copied from the Exome Variant Server MAPRE3_000044 1/13006 1/8600 0/4406
1 c.840G>C r.(?) p.(Glu280Asp) g.27249210G>C Copied from the Exome Variant Server MAPRE3_000045 1/13006 1/8600 0/4406
1 c.*9G>A r.(=) p.(=) g.27249225G>A Copied from the Exome Variant Server MAPRE3_000046 4/13006 1/8600 3/4406
1 c.*29A>G r.(=) p.(=) g.27249245A>G Copied from the Exome Variant Server MAPRE3_000047 8230/13006 5358/8600 2872/4406
1 c.*37C>T r.(=) p.(=) g.27249253C>T Copied from the Exome Variant Server MAPRE3_000048 1/13006 0/8600 1/4406
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