Unique variants in gene SERPINE1

Information The variants shown are described using the NM_000602.4 transcript reference sequence.

100 entries on 1 page. Showing entries 1 - 100.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-1-50G>A r.(=) p.(=) g.100771624G>A Copied from the Exome Variant Server SERPINE1_000008 118/13006 0/8600 118/4406
1 c.-1-35C>T r.(=) p.(=) g.100771639C>T Copied from the Exome Variant Server SERPINE1_000001 1/13006 1/8600 0/4406
1 c.-1-19C>T r.(=) p.(=) g.100771655C>T Copied from the Exome Variant Server SERPINE1_000002 1/13006 1/8600 0/4406
1 c.43G>A r.(?) p.(Ala15Thr) g.100771717G>A Copied from the Exome Variant Server SERPINE1_000003 1109/13006 1008/8600 101/4406
1 c.49G>A r.(?) p.(Val17Ile) g.100771723G>A Copied from the Exome Variant Server SERPINE1_000004 378/13006 82/8600 296/4406
1 c.53T>C r.(?) p.(Phe18Ser) g.100771727T>C Copied from the Exome Variant Server SERPINE1_000005 1/13006 1/8600 0/4406
1 c.91G>A r.(?) p.(Val31Met) g.100771765G>A Copied from the Exome Variant Server SERPINE1_000006 22/13006 2/8600 20/4406
1 c.162C>T r.(=) p.(=) g.100771836C>T Copied from the Exome Variant Server SERPINE1_000007 1/13006 0/8600 1/4406
1 c.180T>C r.(=) p.(=) g.100771854T>C Copied from the Exome Variant Server SERPINE1_000009 1/13006 1/8600 0/4406
1 c.192G>A r.(=) p.(=) g.100771866G>A Copied from the Exome Variant Server SERPINE1_000010 1/13006 1/8600 0/4406
1 c.217A>G r.(?) p.(Thr73Ala) g.100771891A>G Copied from the Exome Variant Server SERPINE1_000011 1/13006 0/8600 1/4406
1 c.240G>C r.(?) p.(Gln80His) g.100771914G>C Copied from the Exome Variant Server SERPINE1_000012 1/13006 1/8600 0/4406
1 c.271+37C>G r.(=) p.(=) g.100771982C>G Copied from the Exome Variant Server SERPINE1_000013 1/12990 1/8594 0/4396
1 c.272-18C>T r.(=) p.(=) g.100773684C>T Copied from the Exome Variant Server SERPINE1_000014 2/13006 0/8600 2/4406
1 c.280_281insT r.(?) p.(Met94Ilefs*20) g.100773710_100773711insT Copied from the Exome Variant Server SERPINE1_000015 6/12518 4/8254 2/4264
1 c.281_282insG r.(?) p.(Ala95Glyfs*19) g.100773711_100773712insG Copied from the Exome Variant Server SERPINE1_000016 20/12518 14/8254 6/4264
1 c.291C>A r.(=) p.(=) g.100773721C>A Copied from the Exome Variant Server SERPINE1_000017 2/13006 0/8600 2/4406
1 c.295C>T r.(?) p.(Arg99Trp) g.100773725C>T Copied from the Exome Variant Server SERPINE1_000018 1/13006 0/8600 1/4406
1 c.348C>T r.(=) p.(=) g.100773778C>T Copied from the Exome Variant Server SERPINE1_000019 1/13006 0/8600 1/4406
1 c.356C>T r.(?) p.(Ala119Val) g.100773786C>T Copied from the Exome Variant Server SERPINE1_000020 1/13006 0/8600 1/4406
1 c.357G>A r.(=) p.(=) g.100773787G>A Copied from the Exome Variant Server SERPINE1_000021 10/13006 8/8600 2/4406
1 c.363C>T r.(=) p.(=) g.100773793C>T Copied from the Exome Variant Server SERPINE1_000022 1/13006 0/8600 1/4406
1 c.385G>A r.(?) p.(Val129Ile) g.100773815G>A Copied from the Exome Variant Server SERPINE1_000023 1/13006 1/8600 0/4406
1 c.399G>A r.(?) p.(Met133Ile) g.100773829G>A Copied from the Exome Variant Server SERPINE1_000024 1/13006 1/8600 0/4406
1 c.421C>T r.(?) p.(Arg141Trp) g.100773851C>T Copied from the Exome Variant Server SERPINE1_000025 2/13006 1/8600 1/4406
1 c.422G>A r.(?) p.(Arg141Gln) g.100773852G>A Copied from the Exome Variant Server SERPINE1_000026 2/13006 2/8600 0/4406
1 c.453G>A r.(=) p.(=) g.100773883G>A Copied from the Exome Variant Server SERPINE1_000027 1/13006 1/8600 0/4406
1 c.456G>C r.(=) p.(=) g.100773886G>C Copied from the Exome Variant Server SERPINE1_000028 1/13006 1/8600 0/4406
1 c.459G>A r.(=) p.(=) g.100773889G>A Copied from the Exome Variant Server SERPINE1_000029 2/13006 0/8600 2/4406
1 c.469T>C r.(?) p.(Phe157Leu) g.100773899T>C Copied from the Exome Variant Server SERPINE1_000030 2/13006 2/8600 0/4406
1 c.473T>C r.(?) p.(Ile158Thr) g.100773903T>C Copied from the Exome Variant Server SERPINE1_000031 1/13006 1/8600 0/4406
1 c.505+35G>A r.(=) p.(=) g.100773970G>A Copied from the Exome Variant Server SERPINE1_000032 2/13004 0/8598 2/4406
1 c.506-28A>T r.(=) p.(=) g.100775128A>T Copied from the Exome Variant Server SERPINE1_000033 1/13006 1/8600 0/4406
1 c.506-20G>A r.(=) p.(=) g.100775136G>A Copied from the Exome Variant Server SERPINE1_000034 3/13006 3/8600 0/4406
1 c.506-14T>G r.(=) p.(=) g.100775142T>G Copied from the Exome Variant Server SERPINE1_000035 1/13006 0/8600 1/4406
1 c.506-3T>C r.spl? p.? g.100775153T>C Copied from the Exome Variant Server SERPINE1_000036 4/13006 0/8600 4/4406
1 c.524T>C r.(?) p.(Leu175Pro) g.100775174T>C Copied from the Exome Variant Server SERPINE1_000037 3/13006 3/8600 0/4406
1 c.526G>A r.(?) p.(Gly176Arg) g.100775176G>A Copied from the Exome Variant Server SERPINE1_000038 1/13006 1/8600 0/4406
1 c.537C>T r.(=) p.(=) g.100775187C>T Copied from the Exome Variant Server SERPINE1_000039 1/13006 0/8600 1/4406
1 c.553C>T r.(?) p.(Arg185Trp) g.100775203C>T Copied from the Exome Variant Server SERPINE1_000040 1/13006 0/8600 1/4406
1 c.585C>T r.(=) p.(=) g.100775235C>T Copied from the Exome Variant Server SERPINE1_000041 1/13006 0/8600 1/4406
1 c.586G>A r.(?) p.(Gly196Ser) g.100775236G>A Copied from the Exome Variant Server SERPINE1_000042 1/13006 1/8600 0/4406
1 c.610G>A r.(?) p.(Asp204Asn) g.100775260G>A Copied from the Exome Variant Server SERPINE1_000043 2/13006 0/8600 2/4406
1 c.620C>T r.(?) p.(Thr207Ile) g.100775270C>T Copied from the Exome Variant Server SERPINE1_000044 3/13006 0/8600 3/4406
1 c.626G>A r.(?) p.(Arg209His) g.100775276G>A Copied from the Exome Variant Server SERPINE1_000045 1/13006 0/8600 1/4406
1 c.628C>T r.(?) p.(Arg210Cys) g.100775278C>T Copied from the Exome Variant Server SERPINE1_000046 1/13006 1/8600 0/4406
1 c.648C>T r.(=) p.(=) g.100775298C>T Copied from the Exome Variant Server SERPINE1_000048 208/13006 1/8600 207/4406
1 c.650G>A r.(?) p.(Gly217Asp) g.100775300G>A Copied from the Exome Variant Server SERPINE1_000050 1/13006 0/8600 1/4406
1 c.669C>T r.(=) p.(=) g.100775319C>T Copied from the Exome Variant Server SERPINE1_000052 1/13006 0/8600 1/4406
1 c.695A>G r.(?) p.(Asn232Ser) g.100775345A>G Copied from the Exome Variant Server SERPINE1_000054 10/13006 0/8600 10/4406
1 c.700A>G r.(?) p.(Thr234Ala) g.100775350A>G Copied from the Exome Variant Server SERPINE1_000056 1/13006 1/8600 0/4406
1 c.701-45G>A r.(=) p.(=) g.100776931G>A Copied from the Exome Variant Server SERPINE1_000047 5938/13006 3778/8600 2160/4406
1 c.701-30T>A r.(=) p.(=) g.100776946T>A Copied from the Exome Variant Server SERPINE1_000049 1/13006 0/8600 1/4406
1 c.701-23G>A r.(=) p.(=) g.100776953G>A Copied from the Exome Variant Server SERPINE1_000051 47/13006 39/8600 8/4406
1 c.701-18A>G r.(=) p.(=) g.100776958A>G Copied from the Exome Variant Server SERPINE1_000053 1/13006 1/8600 0/4406
1 c.717C>T r.(=) p.(=) g.100776992C>T Copied from the Exome Variant Server SERPINE1_000055 1/13006 1/8600 0/4406
1 c.725A>G r.(?) p.(His242Arg) g.100777000A>G Copied from the Exome Variant Server SERPINE1_000057 1/13006 0/8600 1/4406
1 c.764C>A r.(?) p.(Thr255Asn) g.100777039C>A Copied from the Exome Variant Server SERPINE1_000058 1/13006 0/8600 1/4406
1 c.823A>C r.(?) p.(Asn275His) g.100777098A>C Copied from the Exome Variant Server SERPINE1_000059 2/13006 0/8600 2/4406
1 c.866T>C r.(?) p.(Met289Thr) g.100777141T>C Copied from the Exome Variant Server SERPINE1_000060 1/13006 0/8600 1/4406
1 c.899+12C>T r.(=) p.(=) g.100777186C>T Copied from the Exome Variant Server SERPINE1_000061 80/13006 1/8600 79/4406
1 c.899+23C>T r.(=) p.(=) g.100777197C>T Copied from the Exome Variant Server SERPINE1_000062 60/13006 57/8600 3/4406
1 c.899+24G>A r.(=) p.(=) g.100777198G>A Copied from the Exome Variant Server SERPINE1_000063 33/13006 3/8600 30/4406
1 c.899+26C>T r.(=) p.(=) g.100777200C>T Copied from the Exome Variant Server SERPINE1_000064 6/13006 0/8600 6/4406
1 c.899+42T>C r.(=) p.(=) g.100777216T>C Copied from the Exome Variant Server SERPINE1_000065 2/13006 2/8600 0/4406
1 c.899+50C>T r.(=) p.(=) g.100777224C>T Copied from the Exome Variant Server SERPINE1_000066 1/13006 0/8600 1/4406
1 c.900-32C>T r.(=) p.(=) g.100778743C>T Copied from the Exome Variant Server SERPINE1_000067 4/13006 3/8600 1/4406
1 c.900-31G>A r.(=) p.(=) g.100778744G>A Copied from the Exome Variant Server SERPINE1_000068 1/13006 1/8600 0/4406
1 c.900-20C>T r.(=) p.(=) g.100778755C>T Copied from the Exome Variant Server SERPINE1_000069 1/13006 0/8600 1/4406
1 c.910G>A r.(?) p.(Glu304Lys) g.100778785G>A Copied from the Exome Variant Server SERPINE1_000070 1/13006 0/8600 1/4406
1 c.960C>A r.(?) p.(Asp320Glu) g.100778835C>A Copied from the Exome Variant Server SERPINE1_000071 1/13006 1/8600 0/4406
1 c.998C>T r.(?) p.(Ser333Leu) g.100778873C>T Copied from the Exome Variant Server SERPINE1_000072 1/13006 1/8600 0/4406
1 c.1000+8G>A r.(=) p.(=) g.100778883G>A Copied from the Exome Variant Server SERPINE1_000073 1/13006 0/8600 1/4406
1 c.1000+30C>T r.(=) p.(=) g.100778905C>T Copied from the Exome Variant Server SERPINE1_000074 1/13006 1/8600 0/4406
1 c.1000+42G>T r.(=) p.(=) g.100778917G>T Copied from the Exome Variant Server SERPINE1_000075 1/13006 1/8600 0/4406
1 c.1000+43C>T r.(=) p.(=) g.100778918C>T Copied from the Exome Variant Server SERPINE1_000076 1/13006 0/8600 1/4406
1 c.1000+49C>A r.(=) p.(=) g.100778924C>A Copied from the Exome Variant Server SERPINE1_000077 1/13006 1/8600 0/4406
1 c.1001-52C>A r.(=) p.(=) g.100778944C>A Copied from the Exome Variant Server SERPINE1_000078 1/10300 1/7164 0/3136
1 c.1001-10T>C r.(=) p.(=) g.100778986T>C Copied from the Exome Variant Server SERPINE1_000079 1/13006 1/8600 0/4406
1 c.1020C>T r.(=) p.(=) g.100779015C>T Copied from the Exome Variant Server SERPINE1_000080 2/13006 2/8600 0/4406
1 c.1022C>T r.(?) p.(Ala341Val) g.100779017C>T Copied from the Exome Variant Server SERPINE1_000081 1/13006 1/8600 0/4406
1 c.1028C>T r.(?) p.(Ala343Val) g.100779023C>T Copied from the Exome Variant Server SERPINE1_000082 1/13006 0/8600 1/4406
1 c.1048G>A r.(?) p.(Glu350Lys) g.100779043G>A Copied from the Exome Variant Server SERPINE1_000083 1/13006 1/8600 0/4406
1 c.1068G>A r.(=) p.(=) g.100779063G>A Copied from the Exome Variant Server SERPINE1_000084 1/13006 1/8600 0/4406
1 c.1087+27C>T r.(=) p.(=) g.100779109C>T Copied from the Exome Variant Server SERPINE1_000085 1/13006 0/8600 1/4406
1 c.1087+43C>T r.(=) p.(=) g.100779125C>T Copied from the Exome Variant Server SERPINE1_000086 1/13006 1/8600 0/4406
1 c.1087+44G>A r.(=) p.(=) g.100779126G>A Copied from the Exome Variant Server SERPINE1_000087 1/13006 1/8600 0/4406
1 c.1087+56A>G r.(=) p.(=) g.100779138A>G Copied from the Exome Variant Server SERPINE1_000088 1/4566 1/3182 0/1384
1 c.1088-49G>A r.(=) p.(=) g.100780233G>A Copied from the Exome Variant Server SERPINE1_000089 15/13006 13/8600 2/4406
1 c.1088-39G>T r.(=) p.(=) g.100780243G>T Copied from the Exome Variant Server SERPINE1_000090 2/13006 2/8600 0/4406
1 c.1088-16G>C r.(=) p.(=) g.100780266G>C Copied from the Exome Variant Server SERPINE1_000091 2/13006 2/8600 0/4406
1 c.1129A>G r.(?) p.(Met377Val) g.100780323A>G Copied from the Exome Variant Server SERPINE1_000092 1/13006 1/8600 0/4406
1 c.1171+3G>A r.spl? p.? g.100780368G>A Copied from the Exome Variant Server SERPINE1_000093 1/13006 0/8600 1/4406
1 c.1171+20C>T r.(=) p.(=) g.100780385C>T Copied from the Exome Variant Server SERPINE1_000094 209/13006 2/8600 207/4406
1 c.1172-68C>T r.(=) p.(=) g.100780618C>T Copied from the Exome Variant Server SERPINE1_000095 1/4566 0/3182 1/1384
1 c.1172-23C>T r.(=) p.(=) g.100780663C>T Copied from the Exome Variant Server SERPINE1_000096 1/13006 1/8600 0/4406
1 c.1172-5C>T r.spl? p.? g.100780681C>T Copied from the Exome Variant Server SERPINE1_000097 1/13006 1/8600 0/4406
1 c.*1C>T r.(=) p.(=) g.100780724C>T Copied from the Exome Variant Server SERPINE1_000098 1/13006 0/8600 1/4406
1 c.*46del r.(=) p.(=) g.100780769del Copied from the Exome Variant Server SERPINE1_000099 1/12518 0/8254 1/4264
1 c.*47G>A r.(=) p.(=) g.100780770G>A Copied from the Exome Variant Server SERPINE1_000100 4/13006 0/8600 4/4406
Legend