Unique variants in gene TYRP1

Information The variants shown are described using the NM_000550.2 transcript reference sequence.

125 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.-6A>G r.(=) p.(=) g.12693991A>G Copied from the Exome Variant Server TYRP1_000001 2/13006 2/8600 0/4406
1 c.9T>C r.(=) p.(=) g.12694005T>C Copied from the Exome Variant Server TYRP1_000002 1/13006 0/8600 1/4406
1 c.20T>C r.(?) p.(Leu7Pro) g.12694016T>C Copied from the Exome Variant Server TYRP1_000003 1/13006 1/8600 0/4406
1 c.21C>G r.(=) p.(=) g.12694017C>G Copied from the Exome Variant Server TYRP1_000004 11/13006 0/8600 11/4406
1 c.67C>T r.(?) p.(Arg23Trp) g.12694063C>T Copied from the Exome Variant Server TYRP1_000005 5/13006 3/8600 2/4406
1 c.70G>A r.(?) p.(Ala24Thr) g.12694066G>A Copied from the Exome Variant Server TYRP1_000006 27/13006 26/8600 1/4406
1 c.80C>G r.(?) p.(Pro27Arg) g.12694076C>G Copied from the Exome Variant Server TYRP1_000007 1/13006 1/8600 0/4406
1 c.85C>T r.(?) p.(Gln29*) g.12694081C>T Copied from the Exome Variant Server TYRP1_000008 1/13006 0/8600 1/4406
1 c.92C>G r.(?) p.(Ala31Gly) g.12694088C>G Copied from the Exome Variant Server TYRP1_000009 3/13006 0/8600 3/4406
1 c.98T>C r.(?) p.(Val33Ala) g.12694094T>C Copied from the Exome Variant Server TYRP1_000010 8/13006 8/8600 0/4406
1 c.164G>A r.(?) p.(Arg55His) g.12694160G>A Copied from the Exome Variant Server TYRP1_000011 2/13006 0/8600 2/4406
1 c.199G>A r.(?) p.(Ala67Thr) g.12694195G>A Copied from the Exome Variant Server TYRP1_000012 1/13006 0/8600 1/4406
1 c.208G>A r.(?) p.(Ala70Thr) g.12694204G>A Copied from the Exome Variant Server TYRP1_000013 2/13006 2/8600 0/4406
1 c.244G>T r.(?) p.(Asp82Tyr) g.12694240G>T Copied from the Exome Variant Server TYRP1_000014 1/13006 1/8600 0/4406
1 c.259C>A r.(=) p.(=) g.12694255C>A Copied from the Exome Variant Server TYRP1_000015 599/13006 526/8600 73/4406
1 c.278G>A r.(?) p.(Arg93His) g.12694274G>A Copied from the Exome Variant Server TYRP1_000016 75/13006 67/8600 8/4406
1 c.286A>T r.(?) p.(Asn96Tyr) g.12694282A>T Copied from the Exome Variant Server TYRP1_000017 1/13006 0/8600 1/4406
1 c.306C>T r.(=) p.(=) g.12694302C>T Copied from the Exome Variant Server TYRP1_000018 26/13006 1/8600 25/4406
1 c.340C>T r.(?) p.(Arg114Cys) g.12694336C>T Copied from the Exome Variant Server TYRP1_000019 1/13006 1/8600 0/4406
1 c.368A>T r.(?) p.(Asp123Val) g.12694364A>T Copied from the Exome Variant Server TYRP1_000020 3/13006 0/8600 3/4406
1 c.374G>A r.(?) p.(Arg125Lys) g.12694370G>A Copied from the Exome Variant Server TYRP1_000021 2/13006 0/8600 2/4406
1 c.385+21G>C r.(=) p.(=) g.12694402G>C Copied from the Exome Variant Server TYRP1_000022 6/13000 5/8598 1/4402
1 c.385+31C>T r.(=) p.(=) g.12694412C>T Copied from the Exome Variant Server TYRP1_000023 1/12984 1/8596 0/4388
1 c.385+42C>T r.(=) p.(=) g.12694423C>T Copied from the Exome Variant Server TYRP1_000024 1/12942 1/8584 0/4358
1 c.385+47G>C r.(=) p.(=) g.12694428G>C Copied from the Exome Variant Server TYRP1_000025 23/12874 0/8552 23/4322
1 c.386-37G>A r.(=) p.(=) g.12695478G>A Copied from the Exome Variant Server TYRP1_000026 60/13004 0/8598 60/4406
1 c.386-20T>A r.(=) p.(=) g.12695495T>A Copied from the Exome Variant Server TYRP1_000027 1/13006 1/8600 0/4406
1 c.395A>T r.(?) p.(Asn132Ile) g.12695524A>T Copied from the Exome Variant Server TYRP1_000028 2/13006 0/8600 2/4406
1 c.406_407insTAAG r.(?) p.(Glu139*) g.12695535_12695536insTAAG Copied from the Exome Variant Server TYRP1_000029 1/12518 1/8254 0/4264
1 c.418G>T r.(?) p.(Glu140*) g.12695547G>T Copied from the Exome Variant Server TYRP1_000030 1/13006 1/8600 0/4406
1 c.457C>T r.(?) p.(Arg153Cys) g.12695586C>T Copied from the Exome Variant Server TYRP1_000031 8/13006 8/8600 0/4406
1 c.458G>A r.(?) p.(Arg153His) g.12695587G>A Copied from the Exome Variant Server TYRP1_000032 1/13006 0/8600 1/4406
1 c.497C>G r.(?) p.(Ser166*) g.12695626C>G Copied from the Exome Variant Server TYRP1_000033 7/13006 0/8600 7/4406
1 c.506T>C r.(?) p.(Ile169Thr) g.12695635T>C Copied from the Exome Variant Server TYRP1_000034 1/13006 0/8600 1/4406
1 c.520G>T r.(?) p.(Gly174Cys) g.12695649G>T Copied from the Exome Variant Server TYRP1_000035 1/13006 1/8600 0/4406
1 c.554A>G r.(?) p.(Tyr185Cys) g.12695683A>G Copied from the Exome Variant Server TYRP1_000036 1/13006 0/8600 1/4406
1 c.565G>C r.(?) p.(Val189Leu) g.12695694G>C Copied from the Exome Variant Server TYRP1_000037 2/13006 0/8600 2/4406
1 c.620G>T r.(?) p.(Ser207Ile) g.12695749G>T Copied from the Exome Variant Server TYRP1_000038 1/13006 0/8600 1/4406
1 c.621C>T r.(=) p.(=) g.12695750C>T Copied from the Exome Variant Server TYRP1_000039 1/13006 1/8600 0/4406
1 c.627T>A r.(=) p.(=) g.12695756T>A Copied from the Exome Variant Server TYRP1_000040 14/13006 0/8600 14/4406
1 c.631G>C r.(?) p.(Val211Leu) g.12695760G>C Copied from the Exome Variant Server TYRP1_000041 2/13006 2/8600 0/4406
1 c.651A>T r.(=) p.(=) g.12695780A>T Copied from the Exome Variant Server TYRP1_000042 2/13006 0/8600 2/4406
1 c.665C>T r.(?) p.(Thr222Ile) g.12695794C>T Copied from the Exome Variant Server TYRP1_000043 1/13006 1/8600 0/4406
1 c.672C>T r.(=) p.(=) g.12695801C>T Copied from the Exome Variant Server TYRP1_000044 3/13006 0/8600 3/4406
1 c.684C>T r.(=) p.(=) g.12695813C>T Copied from the Exome Variant Server TYRP1_000045 1/13006 1/8600 0/4406
1 c.689G>A r.(?) p.(Arg230His) g.12695818G>A Copied from the Exome Variant Server TYRP1_000046 1/13006 1/8600 0/4406
1 c.708+4T>C r.spl? p.? g.12695841T>C Copied from the Exome Variant Server TYRP1_000048 2/13002 0/8598 2/4404
1 c.708+12G>A r.(=) p.(=) g.12695849G>A Copied from the Exome Variant Server TYRP1_000050 1/13002 0/8596 1/4406
1 c.708+19A>G r.(=) p.(=) g.12695856A>G Copied from the Exome Variant Server TYRP1_000052 42/12996 1/8598 41/4398
1 c.708+24G>T r.(=) p.(=) g.12695861G>T Copied from the Exome Variant Server TYRP1_000054 18/12996 0/8598 18/4398
1 c.708+27G>T r.(=) p.(=) g.12695864G>T Copied from the Exome Variant Server TYRP1_000047 1/12986 1/8594 0/4392
1 c.708+31C>G r.(=) p.(=) g.12695868C>G Copied from the Exome Variant Server TYRP1_000049 1/12966 1/8590 0/4376
1 c.708+39A>G r.(=) p.(=) g.12695876A>G Copied from the Exome Variant Server TYRP1_000051 2/12932 1/8578 1/4354
1 c.708+46G>A r.(=) p.(=) g.12695883G>A Copied from the Exome Variant Server TYRP1_000053 1/12906 1/8570 0/4336
1 c.729T>C r.(=) p.(=) g.12698471T>C Copied from the Exome Variant Server TYRP1_000055 599/13006 527/8600 72/4406
1 c.739C>A r.(?) p.(Pro247Thr) g.12698481C>A Copied from the Exome Variant Server TYRP1_000056 1/13006 1/8600 0/4406
1 c.759G>A r.(=) p.(=) g.12698501G>A Copied from the Exome Variant Server TYRP1_000057 1/13006 0/8600 1/4406
1 c.768T>C r.(=) p.(=) g.12698510T>C Copied from the Exome Variant Server TYRP1_000058 1/13006 0/8600 1/4406
1 c.781T>G r.(?) p.(Cys261Gly) g.12698523T>G Copied from the Exome Variant Server TYRP1_000059 1/13006 1/8600 0/4406
1 c.785C>T r.(?) p.(Thr262Met) g.12698527C>T Copied from the Exome Variant Server TYRP1_000060 8/13006 8/8600 0/4406
1 c.797T>C r.(?) p.(Met266Thr) g.12698539T>C Copied from the Exome Variant Server TYRP1_000061 2/13006 0/8600 2/4406
1 c.832A>G r.(?) p.(Ser278Gly) g.12698574A>G Copied from the Exome Variant Server TYRP1_000062 1/13006 1/8600 0/4406
1 c.853C>T r.(?) p.(Gln285*) g.12698595C>T Copied from the Exome Variant Server TYRP1_000063 1/13006 1/8600 0/4406
1 c.913+5G>A r.spl? p.? g.12698660G>A Copied from the Exome Variant Server TYRP1_000064 1/13004 0/8600 1/4404
1 c.913+9C>T r.(=) p.(=) g.12698664C>T Copied from the Exome Variant Server TYRP1_000065 32/13004 0/8600 32/4404
1 c.913+18G>T r.(=) p.(=) g.12698673G>T Copied from the Exome Variant Server TYRP1_000066 1/13002 0/8598 1/4404
1 c.913+45A>G r.(=) p.(=) g.12698700A>G Copied from the Exome Variant Server TYRP1_000067 89/12992 0/8594 89/4398
1 c.914-4G>T r.spl? p.? g.12702267G>T Copied from the Exome Variant Server TYRP1_000068 6/13004 5/8598 1/4406
1 c.925G>C r.(?) p.(Gly309Arg) g.12702282G>C Copied from the Exome Variant Server TYRP1_000069 1/13006 0/8600 1/4406
1 c.926G>A r.(?) p.(Gly309Glu) g.12702283G>A Copied from the Exome Variant Server TYRP1_000070 2/13006 2/8600 0/4406
1 c.936G>C r.(?) p.(Arg312Ser) g.12702293G>C Copied from the Exome Variant Server TYRP1_000071 1/13006 1/8600 0/4406
1 c.946G>C r.(?) p.(Ala316Pro) g.12702303G>C Copied from the Exome Variant Server TYRP1_000072 1/13006 0/8600 1/4406
1 c.977G>A r.(?) p.(Arg326His) g.12702334G>A Copied from the Exome Variant Server TYRP1_000073 47/13006 0/8600 47/4406
1 c.996T>C r.(=) p.(=) g.12702353T>C Copied from the Exome Variant Server TYRP1_000074 2/13006 0/8600 2/4406
1 c.1000G>A r.(?) p.(Ala334Thr) g.12702357G>A Copied from the Exome Variant Server TYRP1_000075 1/13006 1/8600 0/4406
1 c.1029C>T r.(=) p.(=) g.12702386C>T Copied from the Exome Variant Server TYRP1_000076 14/13006 13/8600 1/4406
1 c.1031C>T r.(?) p.(Thr344Met) g.12702388C>T Copied from the Exome Variant Server TYRP1_000077 2/13006 2/8600 0/4406
1 c.1037C>G r.(?) p.(Pro346Arg) g.12702394C>G Copied from the Exome Variant Server TYRP1_000078 2/13006 2/8600 0/4406
1 c.1054A>G r.(?) p.(Thr352Ala) g.12702411A>G Copied from the Exome Variant Server TYRP1_000079 2/13006 0/8600 2/4406
1 c.1074A>G r.(=) p.(=) g.12702431A>G Copied from the Exome Variant Server TYRP1_000080 1/13004 1/8598 0/4406
1 c.1081+18G>A r.(=) p.(=) g.12702456G>A Copied from the Exome Variant Server TYRP1_000081 2/13004 0/8598 2/4406
1 c.1081+21T>G r.(=) p.(=) g.12702459T>G Copied from the Exome Variant Server TYRP1_000082 34/13004 0/8598 34/4406
1 c.1081+31A>T r.(=) p.(=) g.12702469A>T Copied from the Exome Variant Server TYRP1_000083 18/13002 18/8596 0/4406
1 c.1082-9T>C r.(=) p.(=) g.12704517T>C Copied from the Exome Variant Server TYRP1_000084 35/13006 0/8600 35/4406
1 c.1082-8G>A r.(=) p.(=) g.12704518G>A Copied from the Exome Variant Server TYRP1_000085 87/13006 0/8600 87/4406
1 c.1082G>C r.(?) p.(Gly361Ala) g.12704526G>C Copied from the Exome Variant Server TYRP1_000086 1/13006 1/8600 0/4406
1 c.1101del r.(?) p.(Lys368Serfs*17) g.12704545del Copied from the Exome Variant Server TYRP1_000087 28/12518 2/8254 26/4264
1 c.1117G>A r.(?) p.(Val373Ile) g.12704561G>A Copied from the Exome Variant Server TYRP1_000088 44/13006 0/8600 44/4406
1 c.1138G>T r.(?) p.(Ala380Ser) g.12704582G>T Copied from the Exome Variant Server TYRP1_000089 1/13006 0/8600 1/4406
1 c.1140T>A r.(=) p.(=) g.12704584T>A Copied from the Exome Variant Server TYRP1_000090 1/13006 1/8600 0/4406
1 c.1149C>A r.(?) p.(Phe383Leu) g.12704593C>A Copied from the Exome Variant Server TYRP1_000091 1/13006 1/8600 0/4406
1 c.1162G>C r.(?) p.(Gly388Arg) g.12704606G>C Copied from the Exome Variant Server TYRP1_000092 1/13006 1/8600 0/4406
1 c.1226C>T r.(?) p.(Ala409Val) g.12704670C>T Copied from the Exome Variant Server TYRP1_000093 1/13006 0/8600 1/4406
1 c.1261+1G>A r.spl? p.? g.12704706G>A Copied from the Exome Variant Server TYRP1_000094 5/13006 0/8600 5/4406
1 c.1261+16A>G r.(=) p.(=) g.12704721A>G Copied from the Exome Variant Server TYRP1_000095 2/13006 2/8600 0/4406
1 c.1261+20C>T r.(=) p.(=) g.12704725C>T Copied from the Exome Variant Server TYRP1_000096 5738/13006 5113/8600 625/4406
1 c.1261+25G>A r.(=) p.(=) g.12704730G>A Copied from the Exome Variant Server TYRP1_000097 2/13006 2/8600 0/4406
1 c.1261+41G>A r.(=) p.(=) g.12704746G>A Copied from the Exome Variant Server TYRP1_000098 5/13006 0/8600 5/4406
1 c.1263T>C r.(=) p.(=) g.12707998T>C Copied from the Exome Variant Server TYRP1_000099 7/13000 7/8594 0/4406
1 c.1278A>G r.(=) p.(=) g.12708013A>G Copied from the Exome Variant Server TYRP1_000100 17/13004 0/8598 17/4406
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