Unique variants in gene AFTPH

Information The variants shown are described using the NM_017657.4 transcript reference sequence.

124 entries on 2 pages. Showing entries 1 - 100.
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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.53A>G r.(?) p.(Asn18Ser) g.64778661A>G Copied from the Exome Variant Server AFTPH_000001 2/13006 0/8600 2/4406
1 c.54T>C r.(=) p.(=) g.64778662T>C Copied from the Exome Variant Server AFTPH_000002 191/13006 140/8600 51/4406
1 c.59C>G r.(?) p.(Ala20Gly) g.64778667C>G Copied from the Exome Variant Server AFTPH_000003 2/13006 2/8600 0/4406
1 c.122G>A r.(?) p.(Gly41Asp) g.64778730G>A Copied from the Exome Variant Server AFTPH_000004 28/13006 24/8600 4/4406
1 c.141C>A r.(?) p.(Phe47Leu) g.64778749C>A Copied from the Exome Variant Server AFTPH_000005 9/13006 2/8600 7/4406
1 c.191A>G r.(?) p.(His64Arg) g.64778799A>G Copied from the Exome Variant Server AFTPH_000006 4/13004 4/8598 0/4406
1 c.239G>A r.(?) p.(Ser80Asn) g.64778847G>A Copied from the Exome Variant Server AFTPH_000007 5/13006 0/8600 5/4406
1 c.259G>T r.(?) p.(Gly87Cys) g.64778867G>T Copied from the Exome Variant Server AFTPH_000008 2/13006 0/8600 2/4406
1 c.272A>G r.(?) p.(Asp91Gly) g.64778880A>G Copied from the Exome Variant Server AFTPH_000009 1/13006 1/8600 0/4406
1 c.333C>A r.(=) p.(=) g.64778941C>A Copied from the Exome Variant Server AFTPH_000010 2/13002 2/8596 0/4406
1 c.378T>C r.(=) p.(=) g.64778986T>C Copied from the Exome Variant Server AFTPH_000011 75/12992 2/8590 73/4402
1 c.486T>G r.(=) p.(=) g.64779094T>G Copied from the Exome Variant Server AFTPH_000012 1/13006 1/8600 0/4406
1 c.542T>G r.(?) p.(Ile181Ser) g.64779150T>G Copied from the Exome Variant Server AFTPH_000013 4/13006 4/8600 0/4406
1 c.555G>A r.(=) p.(=) g.64779163G>A Copied from the Exome Variant Server AFTPH_000014 1/13006 1/8600 0/4406
1 c.587G>A r.(?) p.(Gly196Glu) g.64779195G>A Copied from the Exome Variant Server AFTPH_000015 27/13006 24/8600 3/4406
1 c.599T>C r.(?) p.(Leu200Pro) g.64779207T>C Copied from the Exome Variant Server AFTPH_000016 1/13006 0/8600 1/4406
1 c.626G>A r.(?) p.(Arg209Gln) g.64779234G>A Copied from the Exome Variant Server AFTPH_000017 1/13006 1/8600 0/4406
1 c.648C>G r.(?) p.(Ser216Arg) g.64779256C>G Copied from the Exome Variant Server AFTPH_000018 1/13006 1/8600 0/4406
1 c.677G>A r.(?) p.(Ser226Asn) g.64779285G>A Copied from the Exome Variant Server AFTPH_000019 13/13006 11/8600 2/4406
1 c.784C>T r.(?) p.(Arg262Trp) g.64779392C>T Copied from the Exome Variant Server AFTPH_000020 1/13006 1/8600 0/4406
1 c.791A>G r.(?) p.(Asn264Ser) g.64779399A>G Copied from the Exome Variant Server AFTPH_000021 1/13006 1/8600 0/4406
1 c.841T>G r.(?) p.(Leu281Val) g.64779449T>G Copied from the Exome Variant Server AFTPH_000022 1/13004 0/8598 1/4406
1 c.892T>G r.(?) p.(Cys298Gly) g.64779500T>G Copied from the Exome Variant Server AFTPH_000023 2/13006 1/8600 1/4406
1 c.901G>A r.(?) p.(Glu301Lys) g.64779509G>A Copied from the Exome Variant Server AFTPH_000025 1545/13006 40/8600 1505/4406
1 c.910A>G r.(?) p.(Ile304Val) g.64779518A>G Copied from the Exome Variant Server AFTPH_000027 1/13006 0/8600 1/4406
1 c.927T>C r.(=) p.(=) g.64779535T>C Copied from the Exome Variant Server AFTPH_000029 1/13006 1/8600 0/4406
1 c.970G>A r.(?) p.(Glu324Lys) g.64779578G>A Copied from the Exome Variant Server AFTPH_000031 5/13006 4/8600 1/4406
1 c.1014A>G r.(=) p.(=) g.64779622A>G Copied from the Exome Variant Server AFTPH_000033 3/13006 2/8600 1/4406
1 c.1015G>A r.(?) p.(Asp339Asn) g.64779623G>A Copied from the Exome Variant Server AFTPH_000035 1/13006 1/8600 0/4406
1 c.1018T>C r.(?) p.(Ser340Pro) g.64779626T>C Copied from the Exome Variant Server AFTPH_000037 71/13006 0/8600 71/4406
1 c.1038C>T r.(=) p.(=) g.64779646C>T Copied from the Exome Variant Server AFTPH_000039 1/13006 1/8600 0/4406
1 c.1054T>C r.(?) p.(Cys352Arg) g.64779662T>C Copied from the Exome Variant Server AFTPH_000041 1/13006 0/8600 1/4406
1 c.1068A>G r.(=) p.(=) g.64779676A>G Copied from the Exome Variant Server AFTPH_000044 3/13006 3/8600 0/4406
1 c.1077C>T r.(=) p.(=) g.64779685C>T Copied from the Exome Variant Server AFTPH_000045 1/13006 1/8600 0/4406
1 c.1144T>G r.(?) p.(Ser382Ala) g.64779752T>G Copied from the Exome Variant Server AFTPH_000024 1/13006 1/8600 0/4406
1 c.1170T>C r.(=) p.(=) g.64779778T>C Copied from the Exome Variant Server AFTPH_000026 1/13006 1/8600 0/4406
1 c.1185C>T r.(=) p.(=) g.64779793C>T Copied from the Exome Variant Server AFTPH_000028 1/13006 1/8600 0/4406
1 c.1222G>A r.(?) p.(Asp408Asn) g.64779830G>A Copied from the Exome Variant Server AFTPH_000030 3/13006 2/8600 1/4406
1 c.1250G>C r.(?) p.(Ser417Thr) g.64779858G>C Copied from the Exome Variant Server AFTPH_000032 1/13006 1/8600 0/4406
1 c.1264G>A r.(?) p.(Val422Met) g.64779872G>A Copied from the Exome Variant Server AFTPH_000034 1/13006 1/8600 0/4406
1 c.1280T>C r.(?) p.(Ile427Thr) g.64779888T>C Copied from the Exome Variant Server AFTPH_000036 1/13006 1/8600 0/4406
1 c.1291G>C r.(?) p.(Asp431His) g.64779899G>C Copied from the Exome Variant Server AFTPH_000038 1/13006 1/8600 0/4406
1 c.1409A>G r.(?) p.(His470Arg) g.64780017A>G Copied from the Exome Variant Server AFTPH_000040 1/13006 1/8600 0/4406
1 c.1424G>C r.(?) p.(Gly475Ala) g.64780032G>C Copied from the Exome Variant Server AFTPH_000042 1/13006 1/8600 0/4406
1 c.1507A>C r.(?) p.(Thr503Pro) g.64780115A>C Copied from the Exome Variant Server AFTPH_000043 1/13006 1/8600 0/4406
1 c.1536A>G r.(=) p.(=) g.64780144A>G Copied from the Exome Variant Server AFTPH_000046 467/13004 421/8598 46/4406
1 c.1581A>C r.(?) p.(Lys527Asn) g.64780189A>C Copied from the Exome Variant Server AFTPH_000047 1/13006 1/8600 0/4406
1 c.1591G>C r.(?) p.(Gly531Arg) g.64780199G>C Copied from the Exome Variant Server AFTPH_000048 1/13006 0/8600 1/4406
1 c.1598A>G r.(?) p.(Glu533Gly) g.64780206A>G Copied from the Exome Variant Server AFTPH_000049 1/13006 1/8600 0/4406
1 c.1630A>G r.(?) p.(Asn544Asp) g.64780238A>G Copied from the Exome Variant Server AFTPH_000050 2/13006 2/8600 0/4406
1 c.1648A>T r.(?) p.(Asn550Tyr) g.64780256A>T Copied from the Exome Variant Server AFTPH_000051 13/13006 13/8600 0/4406
1 c.1649A>G r.(?) p.(Asn550Ser) g.64780257A>G Copied from the Exome Variant Server AFTPH_000052 76/13006 3/8600 73/4406
1 c.1687T>G r.(?) p.(Ser563Ala) g.64780295T>G Copied from the Exome Variant Server AFTPH_000053 1/13006 0/8600 1/4406
1 c.1693G>T r.(?) p.(Gly565Cys) g.64780301G>T Copied from the Exome Variant Server AFTPH_000054 1/13006 1/8600 0/4406
1 c.1726G>C r.(?) p.(Glu576Gln) g.64780334G>C Copied from the Exome Variant Server AFTPH_000055 1/13006 0/8600 1/4406
1 c.1768G>A r.(?) p.(Asp590Asn) g.64780376G>A Copied from the Exome Variant Server AFTPH_000056 6/13006 0/8600 6/4406
1 c.1781C>G r.(?) p.(Thr594Ser) g.64780389C>G Copied from the Exome Variant Server AFTPH_000057 2/13006 1/8600 1/4406
1 c.1785A>G r.(=) p.(=) g.64780393A>G Copied from the Exome Variant Server AFTPH_000058 1/13006 1/8600 0/4406
1 c.1796G>A r.(?) p.(Arg599Gln) g.64780404G>A Copied from the Exome Variant Server AFTPH_000059 16/13006 12/8600 4/4406
1 c.1833T>C r.(=) p.(=) g.64780441T>C Copied from the Exome Variant Server AFTPH_000060 1/13004 1/8598 0/4406
1 c.1858A>G r.(?) p.(Thr620Ala) g.64780466A>G Copied from the Exome Variant Server AFTPH_000061 44/13004 43/8598 1/4406
1 c.1860G>A r.(=) p.(=) g.64780468G>A Copied from the Exome Variant Server AFTPH_000062 2/13004 2/8598 0/4406
1 c.1895T>G r.(?) p.(Val632Gly) g.64780503T>G Copied from the Exome Variant Server AFTPH_000063 1/13002 0/8598 1/4404
1 c.1905C>T r.(=) p.(=) g.64780513C>T Copied from the Exome Variant Server AFTPH_000064 1/13000 1/8596 0/4404
1 c.1925C>T r.(?) p.(Thr642Ile) g.64780533C>T Copied from the Exome Variant Server AFTPH_000065 1/12998 0/8592 1/4406
1 c.1935+26T>A r.(=) p.(=) g.64780569T>A Copied from the Exome Variant Server AFTPH_000066 10/12692 8/8450 2/4242
1 c.1935+29G>T r.(=) p.(=) g.64780572G>T Copied from the Exome Variant Server AFTPH_000067 1/12638 1/8420 0/4218
1 c.1936-50_1936-48del r.(=) p.(=) g.64794646_64794648del Copied from the Exome Variant Server AFTPH_000068 9/12508 7/8254 2/4254
1 c.1936-45T>C r.(=) p.(=) g.64794651T>C Copied from the Exome Variant Server AFTPH_000069 10/13000 0/8600 10/4400
1 c.1936-20_1936-19insG r.(=) p.(=) g.64794676_64794677insG Copied from the Exome Variant Server AFTPH_000070 2/12518 1/8254 1/4264
1 c.1936-7G>C r.(=) p.(=) g.64794689G>C Copied from the Exome Variant Server AFTPH_000071 1/13006 0/8600 1/4406
1 c.1936-6A>T r.(=) p.(=) g.64794690A>T Copied from the Exome Variant Server AFTPH_000072 1/13006 1/8600 0/4406
1 c.1972G>A r.(?) p.(Ala658Thr) g.64794732G>A Copied from the Exome Variant Server AFTPH_000074 1/13006 0/8600 1/4406
1 c.2087+29T>C r.(=) p.(=) g.64794876T>C Copied from the Exome Variant Server AFTPH_000075 18/13006 0/8600 18/4406
1 c.2088-25del r.(=) p.(=) g.64796201del Copied from the Exome Variant Server AFTPH_000077 8/12520 7/8254 1/4266
1 c.2088-23T>C r.(=) p.(=) g.64796203T>C Copied from the Exome Variant Server AFTPH_000080 1/13006 1/8600 0/4406
1 c.2126A>G r.(?) p.(His709Arg) g.64796264A>G Copied from the Exome Variant Server AFTPH_000082 1/13006 1/8600 0/4406
1 c.2136T>C r.(=) p.(=) g.64796274T>C Copied from the Exome Variant Server AFTPH_000083 1/13006 1/8600 0/4406
1 c.2172C>T r.(=) p.(=) g.64796310C>T Copied from the Exome Variant Server AFTPH_000086 1/13006 0/8600 1/4406
1 c.2215-30A>T r.(=) p.(=) g.64796727A>T Copied from the Exome Variant Server AFTPH_000088 143/13006 1/8600 142/4406
1 c.2215-11C>T r.(=) p.(=) g.64796746C>T Copied from the Exome Variant Server AFTPH_000090 1/13006 1/8600 0/4406
1 c.2215-10G>A r.(=) p.(=) g.64796747G>A Copied from the Exome Variant Server AFTPH_000092 6/13006 5/8600 1/4406
1 c.2246T>C r.(?) p.(Ile749Thr) g.64796788T>C Copied from the Exome Variant Server AFTPH_000094 1/13006 1/8600 0/4406
1 c.2271+3A>G r.spl? p.? g.64796816A>G Copied from the Exome Variant Server AFTPH_000095 5/13006 4/8600 1/4406
1 c.2271+4A>C r.spl? p.? g.64796817A>C Copied from the Exome Variant Server AFTPH_000073 291/13006 18/8600 273/4406
1 c.2271+14T>A r.(=) p.(=) g.64796827T>A Copied from the Exome Variant Server AFTPH_000076 1/13006 1/8600 0/4406
1 c.2271+34A>G r.(=) p.(=) g.64796847A>G Copied from the Exome Variant Server AFTPH_000078 4673/13006 3252/8600 1421/4406
1 c.2271+53A>G r.(=) p.(=) g.64796866A>G Copied from the Exome Variant Server AFTPH_000079 1/4566 0/3182 1/1384
1 c.2272-44C>T r.(=) p.(=) g.64800036C>T Copied from the Exome Variant Server AFTPH_000081 19/13006 0/8600 19/4406
1 c.2272-14T>C r.(=) p.(=) g.64800066T>C Copied from the Exome Variant Server AFTPH_000084 172/13006 158/8600 14/4406
1 c.2289C>G r.(=) p.(=) g.64800097C>G Copied from the Exome Variant Server AFTPH_000085 1/13006 0/8600 1/4406
1 c.2337C>T r.(=) p.(=) g.64800145C>T Copied from the Exome Variant Server AFTPH_000087 1/13006 1/8600 0/4406
1 c.2343G>C r.(?) p.(Gln781His) g.64800151G>C Copied from the Exome Variant Server AFTPH_000089 1/13006 1/8600 0/4406
1 c.2374T>C r.(?) p.(Cys792Arg) g.64800182T>C Copied from the Exome Variant Server AFTPH_000091 1/13006 1/8600 0/4406
1 c.2389T>G r.(?) p.(Phe797Val) g.64800197T>G Copied from the Exome Variant Server AFTPH_000093 1/13006 0/8600 1/4406
1 c.2391C>G r.(?) p.(Phe797Leu) g.64800199C>G Copied from the Exome Variant Server AFTPH_000096 1/13006 1/8600 0/4406
1 c.2394+37G>A r.(=) p.(=) g.64800239G>A Copied from the Exome Variant Server AFTPH_000098 607/13006 533/8600 74/4406
1 c.2394+42T>C r.(=) p.(=) g.64800244T>C Copied from the Exome Variant Server AFTPH_000100 94/13006 1/8600 93/4406
1 c.2395-20T>G r.(=) p.(=) g.64806600T>G Copied from the Exome Variant Server AFTPH_000102 7/13006 0/8600 7/4406
1 c.2439T>C r.(=) p.(=) g.64806664T>C Copied from the Exome Variant Server AFTPH_000105 1/13006 1/8600 0/4406
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