All transcript variants in gene PTPN6

Information The variants shown are described using the NM_002831.5 transcript reference sequence.

141 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     
?/? c.-4816T>C r.(=) p.(=) g.7055860T>C Copied from the Exome Variant Server PTPN6_000001 9004/12038 6038/8220 2966/3818
?/? c.-4813C>T r.(=) p.(=) g.7055863C>T Copied from the Exome Variant Server PTPN6_000002 1/12050 1/8226 0/3824
?/? c.-4812G>A r.(=) p.(=) g.7055864G>A Copied from the Exome Variant Server PTPN6_000003 1/12050 0/8228 1/3822
?/? c.-4794C>T r.(=) p.(=) g.7055882C>T Copied from the Exome Variant Server PTPN6_000004 1/12018 1/8224 0/3794
?/? c.-4767C>G r.(=) p.(=) g.7055909C>G Copied from the Exome Variant Server PTPN6_000005 1/12116 1/8266 0/3850
?/? c.-4750T>A r.(=) p.(=) g.7055926T>A Copied from the Exome Variant Server PTPN6_000006 1/12204 1/8302 0/3902
?/? c.-29C>T r.(=) p.(=) g.7060647C>T Copied from the Exome Variant Server PTPN6_000007 2/12472 2/8372 0/4100
?/? c.-12_-11insA r.(=) p.(=) g.7060664_7060665insA Copied from the Exome Variant Server PTPN6_000008 1/11818 1/7968 0/3850
?/? c.8+12C>T r.(=) p.(=) g.7060695C>T Copied from the Exome Variant Server PTPN6_000009 6/12360 5/8326 1/4034
?/? c.8+31G>A r.(=) p.(=) g.7060714G>A Copied from the Exome Variant Server PTPN6_000010 1/12364 0/8332 1/4032
?/? c.8+38G>A r.(=) p.(=) g.7060721G>A Copied from the Exome Variant Server PTPN6_000012 36/12406 3/8358 33/4048
?/? c.9-7C>T r.(=) p.(=) g.7060765C>T Copied from the Exome Variant Server PTPN6_000014 20/12246 0/8314 20/3932
?/? c.9-6G>A r.(=) p.(=) g.7060766G>A Copied from the Exome Variant Server PTPN6_000011 21/12246 21/8318 0/3928
?/? c.48C>T r.(=) p.(=) g.7060811C>T Copied from the Exome Variant Server PTPN6_000013 1/12298 0/8332 1/3966
?/? c.58G>T r.(?) p.(Gly20Cys) g.7060821G>T Copied from the Exome Variant Server PTPN6_000015 1/12240 1/8318 0/3922
?/? c.98G>A r.(?) p.(Arg33His) g.7060861G>A Copied from the Exome Variant Server PTPN6_000016 1/12252 1/8320 0/3932
?/? c.126C>T r.(=) p.(=) g.7060889C>T Copied from the Exome Variant Server PTPN6_000017 268/12276 2/8316 266/3960
?/? c.127G>A r.(?) p.(Val43Ile) g.7060890G>A Copied from the Exome Variant Server PTPN6_000018 1/12268 1/8310 0/3958
?/? c.132-17C>T r.(=) p.(=) g.7061129C>T Copied from the Exome Variant Server PTPN6_000019 1/12740 0/8504 1/4236
?/? c.132-16G>A r.(=) p.(=) g.7061130G>A Copied from the Exome Variant Server PTPN6_000020 74/12732 69/8496 5/4236
?/? c.132-8C>T r.(=) p.(=) g.7061138C>T Copied from the Exome Variant Server PTPN6_000021 1/12754 1/8502 0/4252
?/? c.157C>T r.(?) p.(Arg53Trp) g.7061171C>T Copied from the Exome Variant Server PTPN6_000022 1/12900 1/8564 0/4336
?/? c.255C>T r.(=) p.(=) g.7061269C>T Copied from the Exome Variant Server PTPN6_000023 1/13000 1/8598 0/4402
?/? c.326+10C>G r.(=) p.(=) g.7061350C>G Copied from the Exome Variant Server PTPN6_000024 1/12632 0/8430 1/4202
?/? c.326+19C>T r.(=) p.(=) g.7061359C>T Copied from the Exome Variant Server PTPN6_000025 2/12458 0/8368 2/4090
?/? c.326+43C>T r.(=) p.(=) g.7061383C>T Copied from the Exome Variant Server PTPN6_000026 1/12238 0/8278 1/3960
?/? c.327-52_327-51insC r.(=) p.(=) g.7063916_7063917insC Copied from the Exome Variant Server PTPN6_000027 3/12110 3/8096 0/4014
?/? c.327-45C>A r.(=) p.(=) g.7063923C>A Copied from the Exome Variant Server PTPN6_000028 1/12656 0/8454 1/4202
?/? c.327-40G>A r.(=) p.(=) g.7063928G>A Copied from the Exome Variant Server PTPN6_000029 73/12644 0/8446 73/4198
?/? c.327-15C>T r.(=) p.(=) g.7063953C>T Copied from the Exome Variant Server PTPN6_000030 1/12702 1/8464 0/4238
?/? c.351C>T r.(=) p.(=) g.7063992C>T Copied from the Exome Variant Server PTPN6_000031 3/12732 3/8490 0/4242
?/? c.365C>T r.(?) p.(Thr122Met) g.7064006C>T Copied from the Exome Variant Server PTPN6_000032 1/12752 1/8494 0/4258
?/? c.366G>A r.(=) p.(=) g.7064007G>A Copied from the Exome Variant Server PTPN6_000033 1/12752 1/8496 0/4256
?/? c.384C>T r.(=) p.(=) g.7064025C>T Copied from the Exome Variant Server PTPN6_000034 3/12772 2/8502 1/4270
?/? c.396G>A r.(=) p.(=) g.7064037G>A Copied from the Exome Variant Server PTPN6_000035 7/12756 7/8496 0/4260
?/? c.482C>T r.(?) p.(Pro161Leu) g.7064123C>T Copied from the Exome Variant Server PTPN6_000036 1/12262 1/8302 0/3960
?/? c.483G>A r.(=) p.(=) g.7064124G>A Copied from the Exome Variant Server PTPN6_000037 1/12232 0/8294 1/3938
?/? c.488G>A r.(?) p.(Arg163Lys) g.7064129G>A Copied from the Exome Variant Server PTPN6_000038 1/12226 0/8294 1/3932
?/? c.516+15C>T r.(=) p.(=) g.7064172C>T Copied from the Exome Variant Server PTPN6_000039 1/12056 0/8240 1/3816
?/? c.516+17G>T r.(=) p.(=) g.7064174G>T Copied from the Exome Variant Server PTPN6_000040 1/12016 1/8218 0/3798
?/? c.516+18C>T r.(=) p.(=) g.7064175C>T Copied from the Exome Variant Server PTPN6_000041 1/12020 1/8220 0/3800
?/? c.516+51C>A r.(=) p.(=) g.7064208C>A Copied from the Exome Variant Server PTPN6_000042 9/12000 0/8206 9/3794
?/? c.517-45_517-44insG r.(=) p.(=) g.7064269_7064270insG Copied from the Exome Variant Server PTPN6_000043 2/11648 1/7910 1/3738
?/? c.517-44G>A r.(=) p.(=) g.7064270G>A Copied from the Exome Variant Server PTPN6_000044 8/12182 8/8274 0/3908
?/? c.517-17A>C r.(=) p.(=) g.7064297A>C Copied from the Exome Variant Server PTPN6_000045 49/12232 0/8286 49/3946
?/? c.517-4C>G r.spl? p.? g.7064310C>G Copied from the Exome Variant Server PTPN6_000046 1/12236 1/8296 0/3940
?/? c.563C>T r.(?) p.(Thr188Met) g.7064360C>T Copied from the Exome Variant Server PTPN6_000047 1/12326 1/8328 0/3998
?/? c.600G>A r.(=) p.(=) g.7064397G>A Copied from the Exome Variant Server PTPN6_000048 1/12314 1/8312 0/4002
?/? c.613G>A r.(?) p.(Ala205Thr) g.7064410G>A Copied from the Exome Variant Server PTPN6_000049 1/12290 1/8312 0/3978
?/? c.629G>A r.(?) p.(Arg210Gln) g.7064426G>A Copied from the Exome Variant Server PTPN6_000050 2/12252 1/8300 1/3952
?/? c.634-17G>A r.(=) p.(=) g.7064518G>A Copied from the Exome Variant Server PTPN6_000051 1/12314 1/8322 0/3992
?/? c.675C>A r.(?) p.(Asn225Lys) g.7064576C>A Copied from the Exome Variant Server PTPN6_000052 8/12504 8/8378 0/4126
?/? c.708C>T r.(=) p.(=) g.7064609C>T Copied from the Exome Variant Server PTPN6_000053 1/12544 1/8390 0/4154
?/? c.747+3G>A r.spl? p.? g.7064651G>A Copied from the Exome Variant Server PTPN6_000054 1/12568 1/8400 0/4168
?/? c.747+29G>A r.(=) p.(=) g.7064677G>A Copied from the Exome Variant Server PTPN6_000055 17/12480 0/8368 17/4112
?/? c.748-52C>T r.(=) p.(=) g.7064771C>T Copied from the Exome Variant Server PTPN6_000056 77/10300 74/7164 3/3136
?/? c.748-46A>G r.(=) p.(=) g.7064777A>G Copied from the Exome Variant Server PTPN6_000057 1/12394 0/8340 1/4054
?/? c.783G>A r.(=) p.(=) g.7064858G>A Copied from the Exome Variant Server PTPN6_000058 1/12670 1/8454 0/4216
?/? c.804A>G r.(=) p.(=) g.7064879A>G Copied from the Exome Variant Server PTPN6_000059 1/12674 1/8448 0/4226
?/? c.844+36C>T r.(=) p.(=) g.7064955C>T Copied from the Exome Variant Server PTPN6_000060 27/12548 25/8406 2/4142
?/? c.845-24C>T r.(=) p.(=) g.7065281C>T Copied from the Exome Variant Server PTPN6_000062 10141/12676 7945/8448 2196/4228
?/? c.845-12G>A r.(=) p.(=) g.7065293G>A Copied from the Exome Variant Server PTPN6_000064 17/12696 0/8454 17/4242
?/? c.897C>T r.(=) p.(=) g.7065357C>T Copied from the Exome Variant Server PTPN6_000061 2/12802 0/8516 2/4286
?/? c.924+18C>T r.(=) p.(=) g.7065402C>T Copied from the Exome Variant Server PTPN6_000063 2/12764 0/8508 2/4256
?/? c.924+22G>A r.(=) p.(=) g.7065406G>A Copied from the Exome Variant Server PTPN6_000065 10199/12758 8005/8510 2194/4248
?/? c.924+41del r.(=) p.(=) g.7065425del Copied from the Exome Variant Server PTPN6_000066 8/12128 2/8088 6/4040
?/? c.925-48C>T r.(=) p.(=) g.7065534C>T Copied from the Exome Variant Server PTPN6_000067 19/12752 18/8480 1/4272
?/? c.925-27G>T r.(=) p.(=) g.7065555G>T Copied from the Exome Variant Server PTPN6_000068 1/12786 1/8498 0/4288
?/? c.925-6G>A r.(=) p.(=) g.7065576G>A Copied from the Exome Variant Server PTPN6_000069 10181/12762 7979/8484 2202/4278
?/? c.951C>T r.(=) p.(=) g.7065608C>T Copied from the Exome Variant Server PTPN6_000070 3/12728 1/8468 2/4260
?/? c.966C>T r.(=) p.(=) g.7065623C>T Copied from the Exome Variant Server PTPN6_000071 2/12674 0/8450 2/4224
?/? c.978T>C N/A N/A g.7065635T>C Copied from the Exome Variant Server PTPN6_000072 11634/12624 7942/8420 3692/4204
?/? c.981T>C r.(=) p.(=) g.7065638T>C Copied from the Exome Variant Server PTPN6_000073 3/12622 0/8416 3/4206
?/? c.996C>G r.(=) p.(=) g.7065653C>G Copied from the Exome Variant Server PTPN6_000074 1/12586 1/8418 0/4168
?/? c.1017G>A r.(=) p.(=) g.7065674G>A Copied from the Exome Variant Server PTPN6_000075 3/12510 0/8386 3/4124
?/? c.1033C>T r.(?) p.(Arg345Cys) g.7065690C>T Copied from the Exome Variant Server PTPN6_000076 1/12432 1/8348 0/4084
?/? c.1074+9del r.(=) p.(=) g.7065740del Copied from the Exome Variant Server PTPN6_000078 6/11548 3/7862 3/3686
?/? c.1074+9dup r.(=) p.(=) g.7065740dup Copied from the Exome Variant Server PTPN6_000077 213/11548 3/7862 210/3686
?/? c.1074+10C>A r.(=) p.(=) g.7065741C>A Copied from the Exome Variant Server PTPN6_000079 27/12092 22/8224 5/3868
?/? c.1074+13_1074+14insG r.(=) p.(=) g.7065744_7065745insG Copied from the Exome Variant Server PTPN6_000080 93/11578 0/7874 93/3704
?/? c.1074+15C>A r.(=) p.(=) g.7065746C>A Copied from the Exome Variant Server PTPN6_000081 1/12042 1/8202 0/3840
?/? c.1074+22G>A r.(=) p.(=) g.7065753G>A Copied from the Exome Variant Server PTPN6_000082 1/12028 0/8200 1/3828
?/? c.1074+27C>T r.(=) p.(=) g.7065758C>T Copied from the Exome Variant Server PTPN6_000083 1/12038 1/8206 0/3832
?/? c.1074+34G>A r.(=) p.(=) g.7065765G>A Copied from the Exome Variant Server PTPN6_000084 1/12046 1/8224 0/3822
?/? c.1075-16G>A r.(=) p.(=) g.7066801G>A Copied from the Exome Variant Server PTPN6_000085 2/12028 2/8222 0/3806
?/? c.1083C>T r.(=) p.(=) g.7066825C>T Copied from the Exome Variant Server PTPN6_000086 39/12156 2/8260 37/3896
?/? c.1099G>A r.(?) p.(Glu367Lys) g.7066841G>A Copied from the Exome Variant Server PTPN6_000087 2/12320 0/8310 2/4010
?/? c.1114C>T r.(?) p.(Arg372Cys) g.7066856C>T Copied from the Exome Variant Server PTPN6_000088 1/12406 1/8340 0/4066
?/? c.1164C>T r.(=) p.(=) g.7066906C>T Copied from the Exome Variant Server PTPN6_000089 2/12448 0/8358 2/4090
?/? c.1166A>C r.(?) p.(Glu389Ala) g.7066908A>C Copied from the Exome Variant Server PTPN6_000090 2/12442 0/8350 2/4092
?/? c.1197G>A r.(=) p.(=) g.7066939G>A Copied from the Exome Variant Server PTPN6_000091 150/12370 10/8320 140/4050
?/? c.1200G>A r.(=) p.(=) g.7066942G>A Copied from the Exome Variant Server PTPN6_000092 2/12374 0/8322 2/4052
?/? c.1206+8_1206+9insC r.(=) p.(=) g.7066956_7066957insC Copied from the Exome Variant Server PTPN6_000093 2/11754 2/7944 0/3810
?/? c.1206+31G>A r.(=) p.(=) g.7066979G>A Copied from the Exome Variant Server PTPN6_000094 3/12200 1/8274 2/3926
?/? c.1207-46G>A r.(=) p.(=) g.7067036G>A Copied from the Exome Variant Server PTPN6_000095 67/12336 0/8326 67/4010
?/? c.1265_1270del r.(?) p.(Val422_Ser424delinsGly) g.7067140_7067145del Copied from the Exome Variant Server PTPN6_000096 4/11702 2/7944 2/3758
?/? c.1314G>T r.(?) p.(Gln438His) g.7067189G>T Copied from the Exome Variant Server PTPN6_000097 1/12350 0/8354 1/3996
?/? c.1327C>G r.(?) p.(Leu443Val) g.7067202C>G Copied from the Exome Variant Server PTPN6_000098 1/12438 1/8386 0/4052
?/? c.1329G>A r.(=) p.(=) g.7067204G>A Copied from the Exome Variant Server PTPN6_000099 2/12434 2/8386 0/4048
?/? c.1335C>T r.(=) p.(=) g.7067210C>T Copied from the Exome Variant Server PTPN6_000100 1/12428 1/8384 0/4044
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