Unique variants in gene PTPN11

Information The variants shown are described using the NM_002834.3 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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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.-27G>A r.(=) p.(=) g.112856889G>A Copied from the Exome Variant Server PTPN11_000001 1/8542 1/5452 0/3090
1 c.28A>G r.(?) p.(Asn10Asp) g.112884093A>G Copied from the Exome Variant Server PTPN11_000002 1/13006 1/8600 0/4406
1 c.48A>G r.(=) p.(=) g.112884113A>G Copied from the Exome Variant Server PTPN11_000003 2/13006 2/8600 0/4406
1 c.255C>T r.(=) p.(=) g.112888239C>T Copied from the Exome Variant Server PTPN11_000004 366/13006 2/8600 364/4406
1 c.332+3C>T r.spl? p.? g.112888319C>T Copied from the Exome Variant Server PTPN11_000005 1/13006 1/8600 0/4406
1 c.332+17T>G r.(=) p.(=) g.112888333T>G Copied from the Exome Variant Server PTPN11_000006 40/13006 4/8600 36/4406
1 c.332+44G>T r.(=) p.(=) g.112888360G>T Copied from the Exome Variant Server PTPN11_000007 4/13006 3/8600 1/4406
1 c.333-41A>G r.(=) p.(=) g.112890958A>G Copied from the Exome Variant Server PTPN11_000008 1/12904 1/8566 0/4338
1 c.333-3T>C r.spl? p.? g.112890996T>C Copied from the Exome Variant Server PTPN11_000009 2/12998 0/8598 2/4400
1 c.376T>C r.(=) p.(=) g.112891042T>C Copied from the Exome Variant Server PTPN11_000010 1/13006 0/8600 1/4406
1 c.461G>C r.(?) p.(Gly154Ala) g.112891127G>C Copied from the Exome Variant Server PTPN11_000011 2/13006 0/8600 2/4406
1 c.518G>A r.(?) p.(Arg173His) g.112891184G>A Copied from the Exome Variant Server PTPN11_000012 1/13006 0/8600 1/4406
1 c.525+6T>C r.(=) p.(=) g.112891197T>C Copied from the Exome Variant Server PTPN11_000013 1/13006 0/8600 1/4406
1 c.525+12G>C r.(=) p.(=) g.112891203G>C Copied from the Exome Variant Server PTPN11_000014 120/13006 109/8600 11/4406
1 c.525+39A>G r.(=) p.(=) g.112891230A>G Copied from the Exome Variant Server PTPN11_000015 1/13006 1/8600 0/4406
1 c.525+40C>T r.(=) p.(=) g.112891231C>T Copied from the Exome Variant Server PTPN11_000016 1/13006 0/8600 1/4406
1 c.526-50A>T r.(=) p.(=) g.112892318A>T Copied from the Exome Variant Server PTPN11_000017 2/13006 0/8600 2/4406
1 c.526-35_526-33del r.(=) p.(=) g.112892333_112892335del Copied from the Exome Variant Server PTPN11_000019 55/12518 14/8254 41/4264
1 c.526-17T>C r.(=) p.(=) g.112892351T>C Copied from the Exome Variant Server PTPN11_000021 18/13006 0/8600 18/4406
1 c.526-8C>A r.(=) p.(=) g.112892360C>A Copied from the Exome Variant Server PTPN11_000023 15/13006 12/8600 3/4406
1 c.537C>T r.(=) p.(=) g.112892379C>T Copied from the Exome Variant Server PTPN11_000025 1/13006 1/8600 0/4406
1 c.556C>T r.(?) p.(Arg186Trp) g.112892398C>T Copied from the Exome Variant Server PTPN11_000027 1/13006 0/8600 1/4406
1 c.558G>T r.(=) p.(=) g.112892400G>T Copied from the Exome Variant Server PTPN11_000029 1/13006 0/8600 1/4406
1 c.642+40T>G r.(=) p.(=) g.112892524T>G Copied from the Exome Variant Server PTPN11_000031 1/13004 1/8598 0/4406
1 c.642+41T>G r.(=) p.(=) g.112892525T>G Copied from the Exome Variant Server PTPN11_000018 2/13004 2/8598 0/4406
1 c.642+42_642+46del r.(=) p.(=) g.112892526_112892530del Copied from the Exome Variant Server PTPN11_000020 5/12514 0/8252 5/4262
1 c.643-7_643-6insG r.(=) p.(=) g.112893747_112893748insG Copied from the Exome Variant Server PTPN11_000022 3/12518 0/8254 3/4264
1 c.717C>G r.(=) p.(=) g.112893828C>G Copied from the Exome Variant Server PTPN11_000024 1/13006 1/8600 0/4406
1 c.756+26C>T r.(=) p.(=) g.112893893C>T Copied from the Exome Variant Server PTPN11_000026 1/13006 0/8600 1/4406
1 c.757-25A>G r.(=) p.(=) g.112910723A>G Copied from the Exome Variant Server PTPN11_000028 5/13004 5/8598 0/4406
1 c.794G>A r.(?) p.(Arg265Gln) g.112910785G>A Copied from the Exome Variant Server PTPN11_000030 2/13006 1/8600 1/4406
1 c.853+12T>C r.(=) p.(=) g.112910856T>C Copied from the Exome Variant Server PTPN11_000032 1/12994 1/8592 0/4402
1 c.853+31C>T r.(=) p.(=) g.112910875C>T Copied from the Exome Variant Server PTPN11_000033 1/12962 1/8582 0/4380
1 c.854-55G>C r.(=) p.(=) g.112915400G>C Copied from the Exome Variant Server PTPN11_000034 1/4566 0/3182 1/1384
1 c.854-32A>C r.(=) p.(=) g.112915423A>C Copied from the Exome Variant Server PTPN11_000035 8/13006 3/8600 5/4406
1 c.854-30T>C r.(=) p.(=) g.112915425T>C Copied from the Exome Variant Server PTPN11_000036 12/13006 6/8600 6/4406
1 c.854-21C>T r.(=) p.(=) g.112915434C>T Copied from the Exome Variant Server PTPN11_000037 741/13006 637/8600 104/4406
1 c.854-17G>T r.(=) p.(=) g.112915438G>T Copied from the Exome Variant Server PTPN11_000038 1/13006 1/8600 0/4406
1 c.880G>A r.(?) p.(Asp294Asn) g.112915481G>A Copied from the Exome Variant Server PTPN11_000039 1/13006 1/8600 0/4406
1 c.922A>G r.(?) p.(Asn308Asp) g.112915523A>G Copied from the Exome Variant Server PTPN11_000040 1/13006 1/8600 0/4406
1 c.925A>G r.(?) p.(Ile309Val) g.112915526A>G Copied from the Exome Variant Server PTPN11_000041 3/13006 3/8600 0/4406
1 c.933+33A>G r.(=) p.(=) g.112915567A>G Copied from the Exome Variant Server PTPN11_000042 1/13006 1/8600 0/4406
1 c.934-32G>A r.(=) p.(=) g.112915629G>A Copied from the Exome Variant Server PTPN11_000043 1/13006 1/8600 0/4406
1 c.983T>C r.(?) p.(Ile328Thr) g.112915710T>C Copied from the Exome Variant Server PTPN11_000044 1/13006 0/8600 1/4406
1 c.1011G>A r.(=) p.(=) g.112915738G>A Copied from the Exome Variant Server PTPN11_000045 1/13006 1/8600 0/4406
1 c.1048T>G r.(?) p.(Ser350Ala) g.112915775T>G Copied from the Exome Variant Server PTPN11_000046 1/13006 1/8600 0/4406
1 c.1092+9C>T r.(=) p.(=) g.112915828C>T Copied from the Exome Variant Server PTPN11_000047 2/13006 0/8600 2/4406
1 c.1093-40G>C r.(=) p.(=) g.112919838G>C Copied from the Exome Variant Server PTPN11_000048 1/13006 0/8600 1/4406
1 c.1093-9C>A r.(=) p.(=) g.112919869C>A Copied from the Exome Variant Server PTPN11_000049 599/13006 92/8600 507/4406
1 c.1124A>G r.(?) p.(Tyr375Cys) g.112919909A>G Copied from the Exome Variant Server PTPN11_000050 1/13006 1/8600 0/4406
1 c.1131A>C r.(=) p.(=) g.112919916A>C Copied from the Exome Variant Server PTPN11_000051 1/13006 1/8600 0/4406
1 c.1224+15G>A r.(=) p.(=) g.112920024G>A Copied from the Exome Variant Server PTPN11_000052 4/13006 4/8600 0/4406
1 c.1225-9C>G r.(=) p.(=) g.112924270C>G Copied from the Exome Variant Server PTPN11_000053 1/13006 1/8600 0/4406
1 c.1226G>C r.(?) p.(Gly409Ala) g.112924280G>C Copied from the Exome Variant Server PTPN11_000054 2/13006 2/8600 0/4406
1 c.1379+20C>T r.(=) p.(=) g.112924453C>T Copied from the Exome Variant Server PTPN11_000055 2/13004 2/8598 0/4406
1 c.1431C>T r.(=) p.(=) g.112926298C>T Copied from the Exome Variant Server PTPN11_000056 1/13006 1/8600 0/4406
1 c.1447+16G>T r.(=) p.(=) g.112926330G>T Copied from the Exome Variant Server PTPN11_000057 1/13006 1/8600 0/4406
1 c.1447+26G>A r.(=) p.(=) g.112926340G>A Copied from the Exome Variant Server PTPN11_000058 7/13006 1/8600 6/4406
1 c.1447+28C>T r.(=) p.(=) g.112926342C>T Copied from the Exome Variant Server PTPN11_000059 1/13006 0/8600 1/4406
1 c.1448-40C>G r.(=) p.(=) g.112926788C>G Copied from the Exome Variant Server PTPN11_000060 1/13006 1/8600 0/4406
1 c.1448-38G>C r.(=) p.(=) g.112926790G>C Copied from the Exome Variant Server PTPN11_000061 9/13006 0/8600 9/4406
1 c.1448-18_1448-16del r.(=) p.(=) g.112926810_112926812del Copied from the Exome Variant Server PTPN11_000062 48/12518 29/8254 19/4264
1 c.1521A>G r.(=) p.(=) g.112926901A>G Copied from the Exome Variant Server PTPN11_000063 1/13006 0/8600 1/4406
1 c.1575A>G r.(=) p.(=) g.112926955A>G Copied from the Exome Variant Server PTPN11_000064 4/13006 0/8600 4/4406
1 c.1599+24C>T r.(=) p.(=) g.112927003C>T Copied from the Exome Variant Server PTPN11_000065 1/13006 0/8600 1/4406
1 c.1599+50C>G r.(=) p.(=) g.112927029C>G Copied from the Exome Variant Server PTPN11_000066 1/12998 1/8592 0/4406
1 c.1600-49C>T r.(=) p.(=) g.112939899C>T Copied from the Exome Variant Server PTPN11_000067 2/13004 0/8598 2/4406
1 c.1600-19G>C r.(=) p.(=) g.112939929G>C Copied from the Exome Variant Server PTPN11_000068 1/13006 1/8600 0/4406
1 c.1650G>A r.(=) p.(=) g.112939998G>A Copied from the Exome Variant Server PTPN11_000069 1/13006 1/8600 0/4406
1 c.1658C>T r.(?) p.(Thr553Met) g.112940006C>T Copied from the Exome Variant Server PTPN11_000070 6/13006 5/8600 1/4406
1 c.1682C>T r.(?) p.(Pro561Leu) g.112940030C>T Copied from the Exome Variant Server PTPN11_000071 2/13006 2/8600 0/4406
1 c.1697C>T r.(?) p.(Thr566Met) g.112940045C>T Copied from the Exome Variant Server PTPN11_000072 1/13006 0/8600 1/4406
1 c.1712+22T>G r.(=) p.(=) g.112940082T>G Copied from the Exome Variant Server PTPN11_000074 2/13006 2/8600 0/4406
1 c.1712+51A>C r.(=) p.(=) g.112940111A>C Copied from the Exome Variant Server PTPN11_000076 1/13004 1/8600 0/4404
1 c.1713-41C>G r.(=) p.(=) g.112942458C>G Copied from the Exome Variant Server PTPN11_000073 1/13006 0/8600 1/4406
1 c.1740T>C r.(=) p.(=) g.112942526T>C Copied from the Exome Variant Server PTPN11_000075 3/13006 0/8600 3/4406
1 c.*13A>G r.(=) p.(=) g.112942581A>G Copied from the Exome Variant Server PTPN11_000077 5/13006 4/8600 1/4406
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