Full data view for gene PTPN1

Information The variants shown are described using the NM_002827.2 transcript reference sequence.

101 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-39T>A r.(=) p.(=) g.49127026T>A Copied from the Exome Variant Server PTPN1_000001 1/10634 1/6986 0/3648 - - - - - - -
?/? c.-31G>C r.(=) p.(=) g.49127034G>C Copied from the Exome Variant Server PTPN1_000002 45/10800 0/7080 45/3720 - - - - - - -
?/? c.-24_-23del r.(=) p.(=) g.49127041_49127042del Copied from the Exome Variant Server PTPN1_000003 28/10268 20/6700 8/3568 - - - - - - -
?/? c.-13G>A r.(=) p.(=) g.49127052G>A Copied from the Exome Variant Server PTPN1_000004 1/11242 0/7386 1/3856 - - - - - - -
?/? c.1A>G r.? p.? g.49127065A>G Copied from the Exome Variant Server PTPN1_000005 2/11618 2/7644 0/3974 - - - - - - -
?/? c.17A>T r.(?) p.(Glu6Val) g.49127081A>T Copied from the Exome Variant Server PTPN1_000006 2/11890 0/7840 2/4050 - - - - - - -
?/? c.39C>T r.(=) p.(=) g.49127103C>T Copied from the Exome Variant Server PTPN1_000007 3/11878 0/7836 3/4042 - - - - - - -
?/? c.55A>G r.(?) p.(Ile19Val) g.49127119A>G Copied from the Exome Variant Server PTPN1_000008 3/11766 2/7764 1/4002 - - - - - - -
?/? c.63+10C>G r.(=) p.(=) g.49127137C>G Copied from the Exome Variant Server PTPN1_000009 1/11626 1/7656 0/3970 - - - - - - -
?/? c.64-43C>T r.(=) p.(=) g.49177857C>T Copied from the Exome Variant Server PTPN1_000010 95/13006 79/8600 16/4406 - - - - - - -
?/? c.64-11_64-10insT r.(=) p.(=) g.49177889_49177890insT Copied from the Exome Variant Server PTPN1_000011 1/12518 1/8254 0/4264 - - - - - - -
?/? c.154+13G>A r.(=) p.(=) g.49178003G>A Copied from the Exome Variant Server PTPN1_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.154+45G>A r.(=) p.(=) g.49178035G>A Copied from the Exome Variant Server PTPN1_000013 3/13006 0/8600 3/4406 - - - - - - -
?/? c.155-52T>C r.(=) p.(=) g.49181454T>C Copied from the Exome Variant Server PTPN1_000014 1/5734 1/3982 0/1752 - - - - - - -
?/? c.155-35C>T r.(=) p.(=) g.49181471C>T Copied from the Exome Variant Server PTPN1_000015 6/13006 2/8600 4/4406 - - - - - - -
?/? c.155-25_155-24del r.(=) p.(=) g.49181481_49181482del Copied from the Exome Variant Server PTPN1_000016 39/12518 25/8254 14/4264 - - - - - - -
?/? c.204C>T r.(=) p.(=) g.49181555C>T Copied from the Exome Variant Server PTPN1_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.255+5G>A r.spl? p.? g.49181611G>A Copied from the Exome Variant Server PTPN1_000018 2/13006 0/8600 2/4406 - - - - - - -
?/? c.255+36A>G r.(=) p.(=) g.49181642A>G Copied from the Exome Variant Server PTPN1_000019 13/13006 11/8600 2/4406 - - - - - - -
?/? c.255+38T>G r.(=) p.(=) g.49181644T>G Copied from the Exome Variant Server PTPN1_000020 317/13006 97/8600 220/4406 - - - - - - -
?/? c.256-42_256-41del r.(=) p.(=) g.49184875_49184876del Copied from the Exome Variant Server PTPN1_000021 118/12518 97/8254 21/4264 - - - - - - -
?/? c.256-23G>T r.(=) p.(=) g.49184894G>T Copied from the Exome Variant Server PTPN1_000022 2/13006 0/8600 2/4406 - - - - - - -
?/? c.256-19T>G r.(=) p.(=) g.49184898T>G Copied from the Exome Variant Server PTPN1_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.256-14T>A r.(=) p.(=) g.49184903T>A Copied from the Exome Variant Server PTPN1_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.256-12G>T r.(=) p.(=) g.49184905G>T Copied from the Exome Variant Server PTPN1_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.276C>T r.(=) p.(=) g.49184937C>T Copied from the Exome Variant Server PTPN1_000026 3/13006 1/8600 2/4406 - - - - - - -
?/? c.334_335del r.(?) p.(Arg112Serfs*24) g.49184995_49184996del Copied from the Exome Variant Server PTPN1_000027 1/12518 1/8254 0/4264 - - - - - - -
?/? c.340A>G r.(?) p.(Met114Val) g.49185001A>G Copied from the Exome Variant Server PTPN1_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.387A>G r.(=) p.(=) g.49191086A>G Copied from the Exome Variant Server PTPN1_000029 5/13006 0/8600 5/4406 - - - - - - -
?/? c.402C>T r.(=) p.(=) g.49191101C>T Copied from the Exome Variant Server PTPN1_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.414A>G r.(=) p.(=) g.49191113A>G Copied from the Exome Variant Server PTPN1_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.492A>G r.(=) p.(=) g.49191191A>G Copied from the Exome Variant Server PTPN1_000032 363/13006 19/8600 344/4406 - - - - - - -
?/? c.492+33G>A r.(=) p.(=) g.49191224G>A Copied from the Exome Variant Server PTPN1_000033 385/13006 100/8600 285/4406 - - - - - - -
?/? c.492+37A>C r.(=) p.(=) g.49191228A>C Copied from the Exome Variant Server PTPN1_000034 6005/13006 4520/8600 1485/4406 - - - - - - -
?/? c.492+41G>A r.(=) p.(=) g.49191232G>A Copied from the Exome Variant Server PTPN1_000035 243/13006 4/8600 239/4406 - - - - - - -
?/? c.493-39G>A r.(=) p.(=) g.49194918G>A Copied from the Exome Variant Server PTPN1_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.493-7C>T r.(=) p.(=) g.49194950C>T Copied from the Exome Variant Server PTPN1_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.494C>T r.(?) p.(Thr165Ile) g.49194958C>T Copied from the Exome Variant Server PTPN1_000038 4/13006 0/8600 4/4406 - - - - - - -
?/? c.538C>T r.(?) p.(Pro180Ser) g.49195002C>T Copied from the Exome Variant Server PTPN1_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.576G>A r.(=) p.(=) g.49195040G>A Copied from the Exome Variant Server PTPN1_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.595C>T r.(?) p.(Arg199*) g.49195059C>T Copied from the Exome Variant Server PTPN1_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.597A>G r.(=) p.(=) g.49195061A>G Copied from the Exome Variant Server PTPN1_000042 383/13006 100/8600 283/4406 - - - - - - -
?/? c.689C>G r.(?) p.(Thr230Ser) g.49195153C>G Copied from the Exome Variant Server PTPN1_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.702+14C>T r.(=) p.(=) g.49195180C>T Copied from the Exome Variant Server PTPN1_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.702+16C>T r.(=) p.(=) g.49195182C>T Copied from the Exome Variant Server PTPN1_000045 482/13006 6/8600 476/4406 - - - - - - -
?/? c.702+22C>G r.(=) p.(=) g.49195188C>G Copied from the Exome Variant Server PTPN1_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.703-24T>G r.(=) p.(=) g.49195681T>G Copied from the Exome Variant Server PTPN1_000047 2/13006 0/8600 2/4406 - - - - - - -
?/? c.703-22A>G r.(=) p.(=) g.49195683A>G Copied from the Exome Variant Server PTPN1_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.714G>A r.(=) p.(=) g.49195716G>A Copied from the Exome Variant Server PTPN1_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.726T>C r.(=) p.(=) g.49195728T>C Copied from the Exome Variant Server PTPN1_000050 2/13006 0/8600 2/4406 - - - - - - -
?/? c.730G>A r.(?) p.(Val244Ile) g.49195732G>A Copied from the Exome Variant Server PTPN1_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.778C>T r.(=) p.(=) g.49195780C>T Copied from the Exome Variant Server PTPN1_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.798G>A r.(=) p.(=) g.49195800G>A Copied from the Exome Variant Server PTPN1_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.825C>T r.(=) p.(=) g.49195827C>T Copied from the Exome Variant Server PTPN1_000054 3/13006 3/8600 0/4406 - - - - - - -
?/? c.836A>G r.(?) p.(Lys279Arg) g.49195838A>G Copied from the Exome Variant Server PTPN1_000055 2/13006 0/8600 2/4406 - - - - - - -
?/? c.864+27G>C r.(=) p.(=) g.49195893G>C Copied from the Exome Variant Server PTPN1_000056 2/13006 2/8600 0/4406 - - - - - - -
?/? c.865-48C>T r.(=) p.(=) g.49196192C>T Copied from the Exome Variant Server PTPN1_000057 12/13004 4/8600 8/4404 - - - - - - -
?/? c.865-34C>G r.(=) p.(=) g.49196206C>G Copied from the Exome Variant Server PTPN1_000058 3/13004 3/8598 0/4406 - - - - - - -
?/? c.865-7T>C r.(=) p.(=) g.49196233T>C Copied from the Exome Variant Server PTPN1_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.909C>T r.(=) p.(=) g.49196284C>T Copied from the Exome Variant Server PTPN1_000060 1180/13006 695/8600 485/4406 - - - - - - -
?/? c.910G>A r.(?) p.(Glu304Lys) g.49196285G>A Copied from the Exome Variant Server PTPN1_000061 3/13006 0/8600 3/4406 - - - - - - -
?/? c.931C>T r.(?) p.(Arg311Trp) g.49196306C>T Copied from the Exome Variant Server PTPN1_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.946A>T r.(?) p.(Ile316Phe) g.49196321A>T Copied from the Exome Variant Server PTPN1_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1021G>A r.(?) p.(Asp341Asn) g.49196396G>A Copied from the Exome Variant Server PTPN1_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1055G>A r.(?) p.(Ser352Asn) g.49196430G>A Copied from the Exome Variant Server PTPN1_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1083C>T r.(=) p.(=) g.49196458C>T Copied from the Exome Variant Server PTPN1_000066 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1089-25C>G r.(=) p.(=) g.49197777C>G Copied from the Exome Variant Server PTPN1_000067 129/13006 0/8600 129/4406 - - - - - - -
?/? c.1089-24C>G r.(=) p.(=) g.49197778C>G Copied from the Exome Variant Server PTPN1_000068 11/13006 10/8600 1/4406 - - - - - - -
?/? c.1089-11T>C r.(=) p.(=) g.49197791T>C Copied from the Exome Variant Server PTPN1_000069 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1123G>A r.(?) p.(Val375Met) g.49197836G>A Copied from the Exome Variant Server PTPN1_000070 6/13006 5/8600 1/4406 - - - - - - -
?/? c.1125G>C r.(=) p.(=) g.49197838G>C Copied from the Exome Variant Server PTPN1_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1132A>C r.(?) p.(Ser378Arg) g.49197845A>C Copied from the Exome Variant Server PTPN1_000072 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1141G>A r.(?) p.(Gly381Ser) g.49197854G>A Copied from the Exome Variant Server PTPN1_000073 25/13006 21/8600 4/4406 - - - - - - -
?/? c.1143T>C r.(=) p.(=) g.49197856T>C Copied from the Exome Variant Server PTPN1_000074 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1145C>A r.(?) p.(Ala382Asp) g.49197858C>A Copied from the Exome Variant Server PTPN1_000075 7/13006 6/8600 1/4406 - - - - - - -
?/? c.1160C>T r.(?) p.(Pro387Leu) g.49197873C>T Copied from the Exome Variant Server PTPN1_000076 65/13006 53/8600 12/4406 - - - - - - -
?/? c.1173G>A r.(=) p.(=) g.49197886G>A Copied from the Exome Variant Server PTPN1_000077 27/13006 0/8600 27/4406 - - - - - - -
?/? c.1185C>T r.(=) p.(=) g.49197898C>T Copied from the Exome Variant Server PTPN1_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1194C>T r.(=) p.(=) g.49197907C>T Copied from the Exome Variant Server PTPN1_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1242C>T r.(=) p.(=) g.49197955C>T Copied from the Exome Variant Server PTPN1_000080 227/13006 4/8600 223/4406 - - - - - - -
?/? c.1245G>A r.(=) p.(=) g.49197958G>A Copied from the Exome Variant Server PTPN1_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1246G>A r.(?) p.(Ala416Thr) g.49197959G>A Copied from the Exome Variant Server PTPN1_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1259C>T r.(?) p.(Thr420Met) g.49197972C>T Copied from the Exome Variant Server PTPN1_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1266C>T r.(=) p.(=) g.49197979C>T Copied from the Exome Variant Server PTPN1_000084 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1267G>T r.(?) p.(Ala423Ser) g.49197980G>T Copied from the Exome Variant Server PTPN1_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1284+21G>A r.(=) p.(=) g.49198018G>A Copied from the Exome Variant Server PTPN1_000086 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1284+23G>A r.(=) p.(=) g.49198020G>A Copied from the Exome Variant Server PTPN1_000087 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1284+29G>A r.(=) p.(=) g.49198026G>A Copied from the Exome Variant Server PTPN1_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1284+32A>C r.(=) p.(=) g.49198029A>C Copied from the Exome Variant Server PTPN1_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1284+38G>A r.(=) p.(=) g.49198035G>A Copied from the Exome Variant Server PTPN1_000090 28/13006 0/8600 28/4406 - - - - - - -
?/? c.1284+51A>G r.(=) p.(=) g.49198048A>G Copied from the Exome Variant Server PTPN1_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1285-85del r.(=) p.(=) g.49199144del Copied from the Exome Variant Server PTPN1_000092 47/12514 34/8252 13/4262 - - - - - - -
?/? c.1285-83G>C r.(=) p.(=) g.49199146G>C Copied from the Exome Variant Server PTPN1_000093 2/4566 2/3182 0/1384 - - - - - - -
?/? c.1285-43G>T r.(=) p.(=) g.49199186G>T Copied from the Exome Variant Server PTPN1_000094 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1285-38G>C r.(=) p.(=) g.49199191G>C Copied from the Exome Variant Server PTPN1_000095 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1285-29C>T r.(=) p.(=) g.49199200C>T Copied from the Exome Variant Server PTPN1_000096 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1285-4C>A r.spl? p.? g.49199225C>A Copied from the Exome Variant Server PTPN1_000097 5/13006 0/8600 5/4406 - - - - - - -
?/? c.*37G>A r.(=) p.(=) g.49199289G>A Copied from the Exome Variant Server PTPN1_000098 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*57C>T r.(=) p.(=) g.49199309C>T Copied from the Exome Variant Server PTPN1_000099 1/4566 0/3182 1/1384 - - - - - - -
?/? c.*70G>T r.(=) p.(=) g.49199322G>T Copied from the Exome Variant Server PTPN1_000100 2/4566 0/3182 2/1384 - - - - - - -
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