Unique variants in gene PDGFRA

Information The variants shown are described using the NM_006206.4 transcript reference sequence.

212 entries on 3 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.-12-54C>T r.(=) p.(=) g.55124870C>T Copied from the Exome Variant Server PDGFRA_000001 2/4566 1/3182 1/1384
1 c.-12-25T>C r.(=) p.(=) g.55124899T>C Copied from the Exome Variant Server PDGFRA_000002 2/13006 2/8600 0/4406
1 c.11C>A r.(?) p.(Ser4Tyr) g.55124946C>A Copied from the Exome Variant Server PDGFRA_000003 1/13006 0/8600 1/4406
1 c.25C>T r.(=) p.(=) g.55124960C>T Copied from the Exome Variant Server PDGFRA_000004 1/13006 1/8600 0/4406
1 c.49+5G>A r.spl? p.? g.55124989G>A Copied from the Exome Variant Server PDGFRA_000005 1/13006 0/8600 1/4406
1 c.49+9C>A r.(=) p.(=) g.55124993C>A Copied from the Exome Variant Server PDGFRA_000006 1/13006 0/8600 1/4406
1 c.49+10C>T r.(=) p.(=) g.55124994C>T Copied from the Exome Variant Server PDGFRA_000007 1/13006 0/8600 1/4406
1 c.49+25T>C r.(=) p.(=) g.55125009T>C Copied from the Exome Variant Server PDGFRA_000008 1/13006 1/8600 0/4406
1 c.49+74A>T r.(=) p.(=) g.55125058A>T Copied from the Exome Variant Server PDGFRA_000009 1005/4566 910/3182 95/1384
1 c.133T>C r.(?) p.(Phe45Leu) g.55127345T>C Copied from the Exome Variant Server PDGFRA_000010 1/13006 0/8600 1/4406
1 c.196A>C r.(?) p.(Ser66Arg) g.55127408A>C Copied from the Exome Variant Server PDGFRA_000011 1/13006 0/8600 1/4406
1 c.201C>T r.(=) p.(=) g.55127413C>T Copied from the Exome Variant Server PDGFRA_000012 57/13006 21/8600 36/4406
1 c.231C>T r.(=) p.(=) g.55127443C>T Copied from the Exome Variant Server PDGFRA_000013 3/13006 2/8600 1/4406
1 c.236G>A r.(?) p.(Gly79Asp) g.55127448G>A Copied from the Exome Variant Server PDGFRA_000014 134/13006 118/8600 16/4406
1 c.276G>A r.(=) p.(=) g.55127488G>A Copied from the Exome Variant Server PDGFRA_000015 2/13006 2/8600 0/4406
1 c.367+45C>G r.(=) p.(=) g.55127624C>G Copied from the Exome Variant Server PDGFRA_000016 1/13004 1/8600 0/4404
1 c.368-3C>T r.spl? p.? g.55129831C>T Copied from the Exome Variant Server PDGFRA_000017 695/13006 640/8600 55/4406
1 c.401C>T r.(?) p.(Thr134Met) g.55129867C>T Copied from the Exome Variant Server PDGFRA_000018 1/13006 1/8600 0/4406
1 c.420G>A r.(=) p.(=) g.55129886G>A Copied from the Exome Variant Server PDGFRA_000019 2/13006 0/8600 2/4406
1 c.430G>T r.(?) p.(Asp144Tyr) g.55129896G>T Copied from the Exome Variant Server PDGFRA_000020 2/13006 0/8600 2/4406
1 c.465C>T r.(=) p.(=) g.55129931C>T Copied from the Exome Variant Server PDGFRA_000021 1/13006 0/8600 1/4406
1 c.468G>A r.(=) p.(=) g.55129934G>A Copied from the Exome Variant Server PDGFRA_000022 1/13006 1/8600 0/4406
1 c.519C>T r.(=) p.(=) g.55129985C>T Copied from the Exome Variant Server PDGFRA_000023 1/13006 0/8600 1/4406
1 c.527A>G r.(?) p.(Gln176Arg) g.55129993A>G Copied from the Exome Variant Server PDGFRA_000024 1/13006 0/8600 1/4406
1 c.551T>C r.(?) p.(Val184Ala) g.55130017T>C Copied from the Exome Variant Server PDGFRA_000025 1/13006 0/8600 1/4406
1 c.599C>G r.(?) p.(Thr200Ser) g.55130065C>G Copied from the Exome Variant Server PDGFRA_000026 3/13006 3/8600 0/4406
1 c.612T>C r.(=) p.(=) g.55130078T>C Copied from the Exome Variant Server PDGFRA_000027 2146/13006 1044/8600 1102/4406
1 c.615T>A r.(=) p.(=) g.55130081T>A Copied from the Exome Variant Server PDGFRA_000028 1/13006 0/8600 1/4406
1 c.628+4C>T r.spl? p.? g.55130098C>T Copied from the Exome Variant Server PDGFRA_000029 2/13006 0/8600 2/4406
1 c.628+13del r.(=) p.(=) g.55130107del Copied from the Exome Variant Server PDGFRA_000030 1/12520 1/8254 0/4266
1 c.629-37T>C r.(=) p.(=) g.55131049T>C Copied from the Exome Variant Server PDGFRA_000031 1/13006 0/8600 1/4406
1 c.629-24C>G r.(=) p.(=) g.55131062C>G Copied from the Exome Variant Server PDGFRA_000032 1/13006 0/8600 1/4406
1 c.661C>T r.(?) p.(Leu221Phe) g.55131118C>T Copied from the Exome Variant Server PDGFRA_000033 43/13006 42/8600 1/4406
1 c.672G>A r.(=) p.(=) g.55131129G>A Copied from the Exome Variant Server PDGFRA_000034 116/13006 0/8600 116/4406
1 c.759+17C>T r.(=) p.(=) g.55131233C>T Copied from the Exome Variant Server PDGFRA_000035 1/13006 0/8600 1/4406
1 c.759+32A>C r.(=) p.(=) g.55131248A>C Copied from the Exome Variant Server PDGFRA_000036 3/13006 0/8600 3/4406
1 c.759+50_759+52del r.(=) p.(=) g.55131266_55131268del Copied from the Exome Variant Server PDGFRA_000037 1/12520 1/8254 0/4266
1 c.760-40G>A r.(=) p.(=) g.55133416G>A Copied from the Exome Variant Server PDGFRA_000038 1/13006 0/8600 1/4406
1 c.760-23_760-22insT r.(=) p.(=) g.55133433_55133434insT Copied from the Exome Variant Server PDGFRA_000039 18/12520 10/8254 8/4266
1 c.760-4G>A r.spl? p.? g.55133452G>A Copied from the Exome Variant Server PDGFRA_000040 1/13006 1/8600 0/4406
1 c.778A>G r.(?) p.(Met260Val) g.55133474A>G Copied from the Exome Variant Server PDGFRA_000041 1/13006 1/8600 0/4406
1 c.784G>C r.(?) p.(Glu262Gln) g.55133480G>C Copied from the Exome Variant Server PDGFRA_000042 1/13006 1/8600 0/4406
1 c.798C>T r.(=) p.(=) g.55133494C>T Copied from the Exome Variant Server PDGFRA_000043 1/13006 0/8600 1/4406
1 c.801A>G r.(=) p.(=) g.55133497A>G Copied from the Exome Variant Server PDGFRA_000044 5/13006 5/8600 0/4406
1 c.802T>A r.(?) p.(Ser268Thr) g.55133498T>A Copied from the Exome Variant Server PDGFRA_000046 6/13006 0/8600 6/4406
1 c.827C>T r.(?) p.(Thr276Met) g.55133523C>T Copied from the Exome Variant Server PDGFRA_000048 1/13006 0/8600 1/4406
1 c.838G>T r.(?) p.(Ala280Ser) g.55133534G>T Copied from the Exome Variant Server PDGFRA_000050 2/13006 2/8600 0/4406
1 c.878G>A r.(?) p.(Arg293His) g.55133574G>A Copied from the Exome Variant Server PDGFRA_000052 1/13006 1/8600 0/4406
1 c.899A>C r.(?) p.(Lys300Thr) g.55133595A>C Copied from the Exome Variant Server PDGFRA_000054 2/13006 2/8600 0/4406
1 c.900A>G r.(=) p.(=) g.55133596A>G Copied from the Exome Variant Server PDGFRA_000056 1/13006 1/8600 0/4406
1 c.919A>G r.(?) p.(Ile307Val) g.55133615A>G Copied from the Exome Variant Server PDGFRA_000045 1/13006 1/8600 0/4406
1 c.931+22G>A r.(=) p.(=) g.55133649G>A Copied from the Exome Variant Server PDGFRA_000047 2/13006 0/8600 2/4406
1 c.931+41C>T r.(=) p.(=) g.55133668C>T Copied from the Exome Variant Server PDGFRA_000049 2/13006 2/8600 0/4406
1 c.931+42G>A r.(=) p.(=) g.55133669G>A Copied from the Exome Variant Server PDGFRA_000051 3/13006 3/8600 0/4406
1 c.932-8C>T r.(=) p.(=) g.55133711C>T Copied from the Exome Variant Server PDGFRA_000053 1/13006 1/8600 0/4406
1 c.932-4A>G r.spl? p.? g.55133715A>G Copied from the Exome Variant Server PDGFRA_000055 440/13006 3/8600 437/4406
1 c.939T>G r.(=) p.(=) g.55133726T>G Copied from the Exome Variant Server PDGFRA_000057 2123/13006 1032/8600 1091/4406
1 c.967C>G r.(?) p.(Gln323Glu) g.55133754C>G Copied from the Exome Variant Server PDGFRA_000058 1/13006 1/8600 0/4406
1 c.996C>T r.(=) p.(=) g.55133783C>T Copied from the Exome Variant Server PDGFRA_000059 24/13006 21/8600 3/4406
1 c.1018C>T r.(?) p.(Arg340Trp) g.55133805C>T Copied from the Exome Variant Server PDGFRA_000060 1/13006 0/8600 1/4406
1 c.1019G>A r.(?) p.(Arg340Gln) g.55133806G>A Copied from the Exome Variant Server PDGFRA_000061 218/13006 1/8600 217/4406
1 c.1057A>C r.(?) p.(Asn353His) g.55133844A>C Copied from the Exome Variant Server PDGFRA_000062 1/13006 0/8600 1/4406
1 c.1099G>A r.(?) p.(Val367Met) g.55133886G>A Copied from the Exome Variant Server PDGFRA_000063 2/13006 1/8600 1/4406
1 c.1113G>A r.(=) p.(=) g.55133900G>A Copied from the Exome Variant Server PDGFRA_000064 1/13006 1/8600 0/4406
1 c.1121+27del r.(=) p.(=) g.55133935del Copied from the Exome Variant Server PDGFRA_000065 1459/12504 687/8242 772/4262
1 c.1121+28C>T r.(=) p.(=) g.55133936C>T Copied from the Exome Variant Server PDGFRA_000066 1787/12998 921/8592 866/4406
1 c.1121+51C>T r.(=) p.(=) g.55133959C>T Copied from the Exome Variant Server PDGFRA_000067 1956/12900 952/8520 1004/4380
1 c.1121+52G>A r.(=) p.(=) g.55133960G>A Copied from the Exome Variant Server PDGFRA_000068 31/7128 30/4508 1/2620
1 c.1122-30C>T r.(=) p.(=) g.55136770C>T Copied from the Exome Variant Server PDGFRA_000069 8/13006 0/8600 8/4406
1 c.1122-25T>C r.(=) p.(=) g.55136775T>C Copied from the Exome Variant Server PDGFRA_000070 1/13006 0/8600 1/4406
1 c.1122G>C r.(?) p.(Arg374Ser) g.55136800G>C Copied from the Exome Variant Server PDGFRA_000071 28/13006 0/8600 28/4406
1 c.1127G>A r.(?) p.(Arg376Gln) g.55136805G>A Copied from the Exome Variant Server PDGFRA_000072 9/13006 0/8600 9/4406
1 c.1135T>G r.(?) p.(Leu379Val) g.55136813T>G Copied from the Exome Variant Server PDGFRA_000073 2/13006 2/8600 0/4406
1 c.1203T>C r.(=) p.(=) g.55136881T>C Copied from the Exome Variant Server PDGFRA_000074 2/13006 0/8600 2/4406
1 c.1238-52T>C r.(=) p.(=) g.55138509T>C Copied from the Exome Variant Server PDGFRA_000075 2/5734 2/3982 0/1752
1 c.1260G>A r.(=) p.(=) g.55138583G>A Copied from the Exome Variant Server PDGFRA_000076 1/13006 1/8600 0/4406
1 c.1263C>T r.(=) p.(=) g.55138586C>T Copied from the Exome Variant Server PDGFRA_000077 2/13006 0/8600 2/4406
1 c.1280C>T r.(?) p.(Ser427Leu) g.55138603C>T Copied from the Exome Variant Server PDGFRA_000078 5/13006 0/8600 5/4406
1 c.1285G>A r.(?) p.(Gly429Arg) g.55138608G>A Copied from the Exome Variant Server PDGFRA_000079 4/13006 4/8600 0/4406
1 c.1296G>A r.(=) p.(=) g.55138619G>A Copied from the Exome Variant Server PDGFRA_000080 1/13006 1/8600 0/4406
1 c.1307C>T r.(?) p.(Thr436Ile) g.55138630C>T Copied from the Exome Variant Server PDGFRA_000081 1/13006 1/8600 0/4406
1 c.1319C>T r.(?) p.(Thr440Met) g.55138642C>T Copied from the Exome Variant Server PDGFRA_000082 1/13006 1/8600 0/4406
1 c.1320G>A r.(=) p.(=) g.55138643G>A Copied from the Exome Variant Server PDGFRA_000083 99/13006 0/8600 99/4406
1 c.1325T>C r.(?) p.(Leu442Pro) g.55138648T>C Copied from the Exome Variant Server PDGFRA_000084 10/13006 8/8600 2/4406
1 c.1364+6G>T r.(=) p.(=) g.55138693G>T Copied from the Exome Variant Server PDGFRA_000085 1/13006 0/8600 1/4406
1 c.1364+13G>A r.(=) p.(=) g.55138700G>A Copied from the Exome Variant Server PDGFRA_000086 4/13006 0/8600 4/4406
1 c.1364+19_1364+21del r.(=) p.(=) g.55138706_55138708del Copied from the Exome Variant Server PDGFRA_000087 1/12520 0/8254 1/4266
1 c.1364+28_1364+29insA r.(=) p.(=) g.55138715_55138716insA Copied from the Exome Variant Server PDGFRA_000088 1/12520 0/8254 1/4266
1 c.1365-44A>T r.(=) p.(=) g.55139660A>T Copied from the Exome Variant Server PDGFRA_000089 1/13006 1/8600 0/4406
1 c.1365-17G>C r.(=) p.(=) g.55139687G>C Copied from the Exome Variant Server PDGFRA_000090 1/13006 1/8600 0/4406
1 c.1365-10T>G r.(=) p.(=) g.55139694T>G Copied from the Exome Variant Server PDGFRA_000091 5/13006 0/8600 5/4406
1 c.1388C>G r.(?) p.(Thr463Ser) g.55139727C>G Copied from the Exome Variant Server PDGFRA_000092 2/13006 2/8600 0/4406
1 c.1422G>A r.(=) p.(=) g.55139761G>A Copied from the Exome Variant Server PDGFRA_000093 1/13006 0/8600 1/4406
1 c.1432T>C r.(?) p.(Ser478Pro) g.55139771T>C Copied from the Exome Variant Server PDGFRA_000094 1877/13006 882/8600 995/4406
1 c.1450G>A r.(?) p.(Val484Met) g.55139789G>A Copied from the Exome Variant Server PDGFRA_000096 3/13006 3/8600 0/4406
1 c.1498C>A r.(=) p.(=) g.55139837C>A Copied from the Exome Variant Server PDGFRA_000098 1/13006 1/8600 0/4406
1 c.1516C>T r.(?) p.(Leu506Phe) g.55139855C>T Copied from the Exome Variant Server PDGFRA_000100 1/13006 1/8600 0/4406
1 c.1552G>T r.(?) p.(Ala518Ser) g.55139891G>T Copied from the Exome Variant Server PDGFRA_000102 1/13006 0/8600 1/4406
1 c.1558+38G>A r.(=) p.(=) g.55139935G>A Copied from the Exome Variant Server PDGFRA_000104 1/13006 0/8600 1/4406
1 c.1558+41G>A r.(=) p.(=) g.55139938G>A Copied from the Exome Variant Server PDGFRA_000106 1/13006 1/8600 0/4406
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