Unique variants in gene PCSK1

Information The variants shown are described using the NM_000439.4 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.-21G>A r.(=) p.(=) g.95768767C>T Copied from the Exome Variant Server PCSK1_000124 7/13006 7/8600 0/4406
1 c.-20T>C r.(=) p.(=) g.95768766A>G Copied from the Exome Variant Server PCSK1_000123 1/13006 0/8600 1/4406
1 c.65T>C r.(?) p.(Leu22Pro) g.95768682A>G Copied from the Exome Variant Server PCSK1_000122 3/13006 0/8600 3/4406
1 c.129G>C r.(=) p.(=) g.95768618C>G Copied from the Exome Variant Server PCSK1_000121 2/13006 0/8600 2/4406
1 c.180+37C>T r.(=) p.(=) g.95768530G>A Copied from the Exome Variant Server PCSK1_000120 234/12996 215/8598 19/4398
1 c.181-34C>T r.(=) p.(=) g.95765055G>A Copied from the Exome Variant Server PCSK1_000119 372/12998 2/8594 370/4404
1 c.181-33G>T r.(=) p.(=) g.95765054C>A Copied from the Exome Variant Server PCSK1_000118 128/12998 0/8594 128/4404
1 c.226C>T r.(?) p.(Pro76Ser) g.95764976G>A Copied from the Exome Variant Server PCSK1_000117 1/13002 0/8596 1/4406
1 c.234G>T r.(?) p.(Arg78Ser) g.95764968C>A Copied from the Exome Variant Server PCSK1_000116 2/13002 0/8596 2/4406
1 c.270A>G r.(=) p.(=) g.95764932T>C Copied from the Exome Variant Server PCSK1_000115 4/13002 2/8596 2/4406
1 c.285+13C>A r.(=) p.(=) g.95764904G>T Copied from the Exome Variant Server PCSK1_000114 1/13004 1/8598 0/4406
1 c.285+38G>A r.(=) p.(=) g.95764879C>T Copied from the Exome Variant Server PCSK1_000113 373/13004 0/8598 373/4406
1 c.286-36T>C r.(=) p.(=) g.95761670A>G Copied from the Exome Variant Server PCSK1_000112 7/13006 7/8600 0/4406
1 c.286-26T>C r.(=) p.(=) g.95761660A>G Copied from the Exome Variant Server PCSK1_000111 2/13006 0/8600 2/4406
1 c.286-22C>G r.(=) p.(=) g.95761656G>C Copied from the Exome Variant Server PCSK1_000110 1/13006 0/8600 1/4406
1 c.339A>G r.(=) p.(=) g.95761581T>C Copied from the Exome Variant Server PCSK1_000109 1/13006 0/8600 1/4406
1 c.374T>A r.(?) p.(Met125Lys) g.95761546A>T Copied from the Exome Variant Server PCSK1_000108 1/13006 1/8600 0/4406
1 c.375G>A r.(?) p.(Met125Ile) g.95761545C>T Copied from the Exome Variant Server PCSK1_000107 5/13006 4/8600 1/4406
1 c.396+22A>G r.(=) p.(=) g.95761502T>C Copied from the Exome Variant Server PCSK1_000105 372/13006 0/8600 372/4406
1 c.397-47C>T r.(=) p.(=) g.95759210G>A Copied from the Exome Variant Server PCSK1_000103 372/13006 0/8600 372/4406
1 c.397-25A>G r.(=) p.(=) g.95759188T>C Copied from the Exome Variant Server PCSK1_000100 10/13006 10/8600 0/4406
1 c.397-19C>T r.(=) p.(=) g.95759182G>A Copied from the Exome Variant Server PCSK1_000098 1/13006 0/8600 1/4406
1 c.397-10T>C r.(=) p.(=) g.95759173A>G Copied from the Exome Variant Server PCSK1_000096 39/13006 34/8600 5/4406
1 c.404C>T r.(?) p.(Thr135Ile) g.95759156G>A Copied from the Exome Variant Server PCSK1_000094 1/13006 0/8600 1/4406
1 c.409A>C r.(?) p.(Met137Leu) g.95759151T>G Copied from the Exome Variant Server PCSK1_000106 1/13006 0/8600 1/4406
1 c.462A>C r.(?) p.(Lys154Asn) g.95759098T>G Copied from the Exome Variant Server PCSK1_000104 1/13006 0/8600 1/4406
1 c.467T>C r.(?) p.(Ile156Thr) g.95759093A>G Copied from the Exome Variant Server PCSK1_000102 1/13006 0/8600 1/4406
1 c.470C>T r.(?) p.(Thr157Met) g.95759090G>A Copied from the Exome Variant Server PCSK1_000101 2/13006 2/8600 0/4406
1 c.524C>T r.(?) p.(Thr175Met) g.95759036G>A Copied from the Exome Variant Server PCSK1_000099 3/13006 1/8600 2/4406
1 c.541T>C r.(?) p.(Tyr181His) g.95759019A>G Copied from the Exome Variant Server PCSK1_000097 5/13006 3/8600 2/4406
1 c.543+29C>G r.(=) p.(=) g.95758988G>C Copied from the Exome Variant Server PCSK1_000095 33/13006 0/8600 33/4406
1 c.543+31T>A r.(=) p.(=) g.95758986A>T Copied from the Exome Variant Server PCSK1_000093 146/13006 0/8600 146/4406
1 c.544-36del r.(=) p.(=) g.95757696del Copied from the Exome Variant Server PCSK1_000092 10/12518 9/8254 1/4264
1 c.544-26A>C r.(=) p.(=) g.95757686T>G Copied from the Exome Variant Server PCSK1_000091 1/13006 1/8600 0/4406
1 c.544del r.(?) p.(Asp182Ilefs*57) g.95757660del Copied from the Exome Variant Server PCSK1_000090 3/12520 2/8254 1/4266
1 c.593C>T r.(?) p.(Pro198Leu) g.95757611G>A Copied from the Exome Variant Server PCSK1_000089 1/13006 0/8600 1/4406
1 c.612C>T r.(=) p.(=) g.95757592G>A Copied from the Exome Variant Server PCSK1_000088 599/13006 40/8600 559/4406
1 c.620+16T>C r.(=) p.(=) g.95757568A>G Copied from the Exome Variant Server PCSK1_000087 1/13004 0/8598 1/4406
1 c.620+51C>G r.(=) p.(=) g.95757533G>C Copied from the Exome Variant Server PCSK1_000086 2/13004 0/8598 2/4406
1 c.621-34G>A r.(=) p.(=) g.95751859C>T Copied from the Exome Variant Server PCSK1_000085 1/13006 0/8600 1/4406
1 c.650C>T r.(?) p.(Ala217Val) g.95751796G>A Copied from the Exome Variant Server PCSK1_000084 1/13006 1/8600 0/4406
1 c.661A>G r.(?) p.(Asn221Asp) g.95751785T>C Copied from the Exome Variant Server PCSK1_000083 475/13006 431/8600 44/4406
1 c.675C>T r.(=) p.(=) g.95751771G>A Copied from the Exome Variant Server PCSK1_000082 1/13006 0/8600 1/4406
1 c.701A>T r.(?) p.(Lys234Ile) g.95751745T>A Copied from the Exome Variant Server PCSK1_000081 1/13006 1/8600 0/4406
1 c.709+11G>A r.(=) p.(=) g.95751726C>T Copied from the Exome Variant Server PCSK1_000080 2/13006 2/8600 0/4406
1 c.710-43C>T r.(=) p.(=) g.95748237G>A Copied from the Exome Variant Server PCSK1_000079 63/13006 61/8600 2/4406
1 c.710-22C>T r.(=) p.(=) g.95748216G>A Copied from the Exome Variant Server PCSK1_000078 1/13006 1/8600 0/4406
1 c.770A>G r.(?) p.(Asn257Ser) g.95748134T>C Copied from the Exome Variant Server PCSK1_000077 1/13006 1/8600 0/4406
1 c.780C>T r.(=) p.(=) g.95748124G>A Copied from the Exome Variant Server PCSK1_000076 1/13006 1/8600 0/4406
1 c.781G>A r.(?) p.(Val261Met) g.95748123C>T Copied from the Exome Variant Server PCSK1_000075 1/13006 1/8600 0/4406
1 c.782T>C r.(?) p.(Val261Ala) g.95748122A>G Copied from the Exome Variant Server PCSK1_000074 1/13006 1/8600 0/4406
1 c.834G>A r.(=) p.(=) g.95748070C>T Copied from the Exome Variant Server PCSK1_000073 1/13006 0/8600 1/4406
1 c.836G>C r.(?) p.(Gly279Ala) g.95748068C>G Copied from the Exome Variant Server PCSK1_000072 1/13006 1/8600 0/4406
1 c.843C>A r.(=) p.(=) g.95748061G>T Copied from the Exome Variant Server PCSK1_000071 1/13006 1/8600 0/4406
1 c.869A>G r.(?) p.(Tyr290Cys) g.95748035T>C Copied from the Exome Variant Server PCSK1_000070 3/13006 0/8600 3/4406
1 c.882+10T>G r.(=) p.(=) g.95748012A>C Copied from the Exome Variant Server PCSK1_000069 1/13006 1/8600 0/4406
1 c.882+20C>T r.(=) p.(=) g.95748002G>A Copied from the Exome Variant Server PCSK1_000068 1/13006 1/8600 0/4406
1 c.882+41C>A r.(=) p.(=) g.95747981G>T Copied from the Exome Variant Server PCSK1_000067 309/13006 0/8600 309/4406
1 c.909C>G r.(?) p.(Phe303Leu) g.95746664G>C Copied from the Exome Variant Server PCSK1_000066 1/13006 1/8600 0/4406
1 c.910G>A r.(?) p.(Val304Ile) g.95746663C>T Copied from the Exome Variant Server PCSK1_000065 5/13006 0/8600 5/4406
1 c.921G>A r.(=) p.(=) g.95746652C>T Copied from the Exome Variant Server PCSK1_000064 1/13006 0/8600 1/4406
1 c.927C>T r.(=) p.(=) g.95746646G>A Copied from the Exome Variant Server PCSK1_000063 3/13006 1/8600 2/4406
1 c.935G>A r.(?) p.(Arg312His) g.95746638C>T Copied from the Exome Variant Server PCSK1_000062 1/13006 0/8600 1/4406
1 c.1029C>T r.(=) p.(=) g.95746544G>A Copied from the Exome Variant Server PCSK1_000061 1/13006 1/8600 0/4406
1 c.1071C>T r.(=) p.(=) g.95746502G>A Copied from the Exome Variant Server PCSK1_000060 7/13006 4/8600 3/4406
1 c.1095+22C>A r.(=) p.(=) g.95746456G>T Copied from the Exome Variant Server PCSK1_000059 5/13006 0/8600 5/4406
1 c.1096-40G>C r.(=) p.(=) g.95744067C>G Copied from the Exome Variant Server PCSK1_000057 1/13006 1/8600 0/4406
1 c.1096-10C>T r.(=) p.(=) g.95744037G>A Copied from the Exome Variant Server PCSK1_000055 7/13006 4/8600 3/4406
1 c.1097C>T r.(?) p.(Thr366Met) g.95744026G>A Copied from the Exome Variant Server PCSK1_000053 1/13006 0/8600 1/4406
1 c.1179T>C r.(=) p.(=) g.95743944A>G Copied from the Exome Variant Server PCSK1_000051 6/13006 0/8600 6/4406
1 c.1196+6del r.(=) p.(=) g.95743921del Copied from the Exome Variant Server PCSK1_000049 62/12520 45/8254 17/4266
1 c.1196+51T>C r.(=) p.(=) g.95743876A>G Copied from the Exome Variant Server PCSK1_000047 1/13002 1/8598 0/4404
1 c.1197-22C>G r.(=) p.(=) g.95735912G>C Copied from the Exome Variant Server PCSK1_000045 1/13006 0/8600 1/4406
1 c.1197-9C>T r.(=) p.(=) g.95735899G>A Copied from the Exome Variant Server PCSK1_000043 13/13006 11/8600 2/4406
1 c.1236C>T r.(=) p.(=) g.95735851G>A Copied from the Exome Variant Server PCSK1_000058 1/13006 1/8600 0/4406
1 c.1345C>G r.(?) p.(Leu449Val) g.95735742G>C Copied from the Exome Variant Server PCSK1_000056 1/13006 1/8600 0/4406
1 c.1363C>A r.(?) p.(Pro455Thr) g.95735724G>T Copied from the Exome Variant Server PCSK1_000054 1/13006 0/8600 1/4406
1 c.1384C>A r.(?) p.(Pro462Thr) g.95735703G>T Copied from the Exome Variant Server PCSK1_000052 1/13006 0/8600 1/4406
1 c.1387G>A r.(?) p.(Glu463Lys) g.95735700C>T Copied from the Exome Variant Server PCSK1_000050 9/13006 1/8600 8/4406
1 c.1430+5G>C r.spl? p.? g.95735652C>G Copied from the Exome Variant Server PCSK1_000048 1/13006 0/8600 1/4406
1 c.1430+19_1430+21del r.(=) p.(=) g.95735636_95735638del Copied from the Exome Variant Server PCSK1_000046 1/12520 1/8254 0/4266
1 c.1430+27C>T r.(=) p.(=) g.95735630G>A Copied from the Exome Variant Server PCSK1_000044 1/13006 0/8600 1/4406
1 c.1430+34G>T r.(=) p.(=) g.95735623C>A Copied from the Exome Variant Server PCSK1_000042 1/13006 1/8600 0/4406
1 c.1431-45A>T r.(=) p.(=) g.95734785T>A Copied from the Exome Variant Server PCSK1_000041 4/12968 0/8580 4/4388
1 c.1431-21C>A r.(=) p.(=) g.95734761G>T Copied from the Exome Variant Server PCSK1_000040 2/12998 2/8598 0/4400
1 c.1503C>T r.(=) p.(=) g.95734668G>A Copied from the Exome Variant Server PCSK1_000039 2/13006 2/8600 0/4406
1 c.1536A>T r.(=) p.(=) g.95734635T>A Copied from the Exome Variant Server PCSK1_000038 1/13006 0/8600 1/4406
1 c.1550G>A r.(?) p.(Arg517Gln) g.95734621C>T Copied from the Exome Variant Server PCSK1_000037 2/13006 2/8600 0/4406
1 c.1561C>T r.(?) p.(Leu521Phe) g.95734610G>A Copied from the Exome Variant Server PCSK1_000036 1/13006 0/8600 1/4406
1 c.1588+2T>C r.spl? p.? g.95734581A>G Copied from the Exome Variant Server PCSK1_000035 2/13006 0/8600 2/4406
1 c.1588+13A>C r.(=) p.(=) g.95734570T>G Copied from the Exome Variant Server PCSK1_000034 1/13006 0/8600 1/4406
1 c.1589-5C>T r.spl? p.? g.95733178G>A Copied from the Exome Variant Server PCSK1_000033 1/13006 1/8600 0/4406
1 c.1650T>C r.(=) p.(=) g.95733112A>G Copied from the Exome Variant Server PCSK1_000032 5052/13006 3230/8600 1822/4406
1 c.1723-9A>G r.(=) p.(=) g.95730738T>C Copied from the Exome Variant Server PCSK1_000031 4/13006 0/8600 4/4406
1 c.1723-4T>A r.spl? p.? g.95730733A>T Copied from the Exome Variant Server PCSK1_000030 1/13006 1/8600 0/4406
1 c.1733T>C r.(?) p.(Ile578Thr) g.95730719A>G Copied from the Exome Variant Server PCSK1_000029 1/13006 1/8600 0/4406
1 c.1746A>G r.(=) p.(=) g.95730706T>C Copied from the Exome Variant Server PCSK1_000028 2/13006 0/8600 2/4406
1 c.1752T>A r.(=) p.(=) g.95730700A>T Copied from the Exome Variant Server PCSK1_000027 1/13006 0/8600 1/4406
1 c.1776C>T r.(=) p.(=) g.95730676G>A Copied from the Exome Variant Server PCSK1_000026 2/13006 2/8600 0/4406
1 c.1814G>A r.(?) p.(Arg605His) g.95730638C>T Copied from the Exome Variant Server PCSK1_000025 1/13006 1/8600 0/4406
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