All transcript variants in gene PTPRM

Information The variants shown are described using the NM_001105244.1 transcript reference sequence.

302 entries on 4 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.-45C>A r.(=) p.(=) g.7567772C>A Copied from the Exome Variant Server PTPRM_000001 1/12958 0/8572 1/4386
?/? c.-14C>G r.(=) p.(=) g.7567803C>G Copied from the Exome Variant Server PTPRM_000002 4687/13004 1826/8600 2861/4404
?/? c.73+46C>T r.(=) p.(=) g.7567935C>T Copied from the Exome Variant Server PTPRM_000003 13/12840 12/8484 1/4356
?/? c.74-47G>A r.(=) p.(=) g.7774100G>A Copied from the Exome Variant Server PTPRM_000004 1/13006 1/8600 0/4406
?/? c.74-43T>C r.(=) p.(=) g.7774104T>C Copied from the Exome Variant Server PTPRM_000005 5699/13006 4414/8600 1285/4406
?/? c.74-38T>C r.(=) p.(=) g.7774109T>C Copied from the Exome Variant Server PTPRM_000006 2/13006 2/8600 0/4406
?/? c.74-36G>A r.(=) p.(=) g.7774111G>A Copied from the Exome Variant Server PTPRM_000007 1/13006 0/8600 1/4406
?/? c.74-27A>G r.(=) p.(=) g.7774120A>G Copied from the Exome Variant Server PTPRM_000008 2/13006 0/8600 2/4406
?/? c.84C>T r.(=) p.(=) g.7774157C>T Copied from the Exome Variant Server PTPRM_000009 1/13006 1/8600 0/4406
?/? c.87T>A r.(?) p.(Phe29Leu) g.7774160T>A Copied from the Exome Variant Server PTPRM_000010 1/13006 1/8600 0/4406
?/? c.117T>A r.(?) p.(Ser39Arg) g.7774190T>A Copied from the Exome Variant Server PTPRM_000011 286/13006 6/8600 280/4406
?/? c.135C>T r.(=) p.(=) g.7774208C>T Copied from the Exome Variant Server PTPRM_000012 26/13006 0/8600 26/4406
?/? c.147G>A r.(=) p.(=) g.7774220G>A Copied from the Exome Variant Server PTPRM_000013 7/13006 1/8600 6/4406
?/? c.171G>A r.(=) p.(=) g.7774244G>A Copied from the Exome Variant Server PTPRM_000014 1/13006 1/8600 0/4406
?/? c.188T>A r.(?) p.(Met63Lys) g.7774261T>A Copied from the Exome Variant Server PTPRM_000016 1/13006 1/8600 0/4406
?/? c.192A>G r.(=) p.(=) g.7774265A>G Copied from the Exome Variant Server PTPRM_000018 1/13006 1/8600 0/4406
?/? c.196+14T>C r.(=) p.(=) g.7774283T>C Copied from the Exome Variant Server PTPRM_000020 1/13006 0/8600 1/4406
?/? c.196+28T>G r.(=) p.(=) g.7774297T>G Copied from the Exome Variant Server PTPRM_000022 12/13006 11/8600 1/4406
?/? c.196+51A>G r.(=) p.(=) g.7774320A>G Copied from the Exome Variant Server PTPRM_000024 1/13006 0/8600 1/4406
?/? c.197-80A>G r.(=) p.(=) g.7888024A>G Copied from the Exome Variant Server PTPRM_000015 1/5734 1/3982 0/1752
?/? c.197-43G>T r.(=) p.(=) g.7888061G>T Copied from the Exome Variant Server PTPRM_000017 1/13004 0/8600 1/4404
?/? c.197-22C>G r.(=) p.(=) g.7888082C>G Copied from the Exome Variant Server PTPRM_000019 50/13006 49/8600 1/4406
?/? c.197-16G>A r.(=) p.(=) g.7888088G>A Copied from the Exome Variant Server PTPRM_000021 367/13006 340/8600 27/4406
?/? c.207G>A r.(?) p.(Met69Ile) g.7888114G>A Copied from the Exome Variant Server PTPRM_000023 1/13006 1/8600 0/4406
?/? c.208C>A r.(?) p.(Leu70Met) g.7888115C>A Copied from the Exome Variant Server PTPRM_000025 5/13006 0/8600 5/4406
?/? c.234G>A r.(=) p.(=) g.7888141G>A Copied from the Exome Variant Server PTPRM_000026 1/13006 0/8600 1/4406
?/? c.242G>A r.(?) p.(Arg81Lys) g.7888149G>A Copied from the Exome Variant Server PTPRM_000027 1/13006 1/8600 0/4406
?/? c.264A>G r.(=) p.(=) g.7888171A>G Copied from the Exome Variant Server PTPRM_000028 4/13006 4/8600 0/4406
?/? c.291C>T r.(=) p.(=) g.7888198C>T Copied from the Exome Variant Server PTPRM_000029 1/13006 1/8600 0/4406
?/? c.297T>C r.(=) p.(=) g.7888204T>C Copied from the Exome Variant Server PTPRM_000030 1/13006 1/8600 0/4406
?/? c.306T>C r.(=) p.(=) g.7888213T>C Copied from the Exome Variant Server PTPRM_000031 4/13006 0/8600 4/4406
?/? c.323A>G r.(?) p.(Asn108Ser) g.7888230A>G Copied from the Exome Variant Server PTPRM_000032 1/13006 0/8600 1/4406
?/? c.344A>G r.(?) p.(Asn115Ser) g.7888251A>G Copied from the Exome Variant Server PTPRM_000033 1/13006 0/8600 1/4406
?/? c.367G>A r.(?) p.(Gly123Arg) g.7888274G>A Copied from the Exome Variant Server PTPRM_000034 2/13006 0/8600 2/4406
?/? c.389G>C r.(?) p.(Trp130Ser) g.7888296G>C Copied from the Exome Variant Server PTPRM_000035 1/13006 0/8600 1/4406
?/? c.399T>C r.(=) p.(=) g.7888306T>C Copied from the Exome Variant Server PTPRM_000036 11/13006 10/8600 1/4406
?/? c.413G>A r.(?) p.(Arg138His) g.7888320G>A Copied from the Exome Variant Server PTPRM_000037 2/13006 2/8600 0/4406
?/? c.459C>G r.(?) p.(Asn153Lys) g.7888366C>G Copied from the Exome Variant Server PTPRM_000038 1/13006 0/8600 1/4406
?/? c.468+23A>G r.(=) p.(=) g.7888398A>G Copied from the Exome Variant Server PTPRM_000039 2/12990 2/8590 0/4400
?/? c.469-45T>C r.(=) p.(=) g.7906458T>C Copied from the Exome Variant Server PTPRM_000040 215/13006 164/8600 51/4406
?/? c.547+13T>C r.(=) p.(=) g.7906594T>C Copied from the Exome Variant Server PTPRM_000041 1/13006 0/8600 1/4406
?/? c.547+15del r.(=) p.(=) g.7906596del Copied from the Exome Variant Server PTPRM_000042 25/12518 23/8254 2/4264
?/? c.547+17_547+24del r.(=) p.(=) g.7906598_7906605del Copied from the Exome Variant Server PTPRM_000043 24/12518 22/8254 2/4264
?/? c.547+19_547+25del r.(=) p.(=) g.7906600_7906606del Copied from the Exome Variant Server PTPRM_000044 24/12518 22/8254 2/4264
?/? c.547+23T>C r.(=) p.(=) g.7906604T>C Copied from the Exome Variant Server PTPRM_000045 2/13006 2/8600 0/4406
?/? c.547+24A>G r.(=) p.(=) g.7906605A>G Copied from the Exome Variant Server PTPRM_000046 1/13006 0/8600 1/4406
?/? c.547+28G>A r.(=) p.(=) g.7906609G>A Copied from the Exome Variant Server PTPRM_000047 1/13006 0/8600 1/4406
?/? c.547+38T>C r.(=) p.(=) g.7906619T>C Copied from the Exome Variant Server PTPRM_000048 1/13006 1/8600 0/4406
?/? c.548-39C>A r.(=) p.(=) g.7926527C>A Copied from the Exome Variant Server PTPRM_000049 1/13004 0/8598 1/4406
?/? c.555T>G r.(=) p.(=) g.7926573T>G Copied from the Exome Variant Server PTPRM_000050 1/13006 1/8600 0/4406
?/? c.594T>C r.(=) p.(=) g.7926612T>C Copied from the Exome Variant Server PTPRM_000051 1/13006 1/8600 0/4406
?/? c.618C>T r.(=) p.(=) g.7926636C>T Copied from the Exome Variant Server PTPRM_000052 1/13006 1/8600 0/4406
?/? c.627C>T r.(=) p.(=) g.7926645C>T Copied from the Exome Variant Server PTPRM_000053 1/13006 1/8600 0/4406
?/? c.663+11T>C r.(=) p.(=) g.7926692T>C Copied from the Exome Variant Server PTPRM_000054 5/13006 0/8600 5/4406
?/? c.663+12C>A r.(=) p.(=) g.7926693C>A Copied from the Exome Variant Server PTPRM_000055 2/13006 2/8600 0/4406
?/? c.663+19A>G r.(=) p.(=) g.7926700A>G Copied from the Exome Variant Server PTPRM_000056 1/13006 1/8600 0/4406
?/? c.663+39C>A r.(=) p.(=) g.7926720C>A Copied from the Exome Variant Server PTPRM_000059 1/13006 1/8600 0/4406
?/? c.663+40G>A r.(=) p.(=) g.7926721G>A Copied from the Exome Variant Server PTPRM_000061 4/13006 0/8600 4/4406
?/? c.664-38A>T r.(=) p.(=) g.7949141A>T Copied from the Exome Variant Server PTPRM_000063 275/13006 3/8600 272/4406
?/? c.664-9T>C r.(=) p.(=) g.7949170T>C Copied from the Exome Variant Server PTPRM_000064 17/13006 1/8600 16/4406
?/? c.687T>C r.(=) p.(=) g.7949202T>C Copied from the Exome Variant Server PTPRM_000067 3/13006 3/8600 0/4406
?/? c.758G>A r.(?) p.(Arg253Gln) g.7949273G>A Copied from the Exome Variant Server PTPRM_000069 1/13006 0/8600 1/4406
?/? c.787C>T r.(?) p.(Arg263Cys) g.7949302C>T Copied from the Exome Variant Server PTPRM_000071 1/13006 1/8600 0/4406
?/? c.818A>G r.(?) p.(Tyr273Cys) g.7949333A>G Copied from the Exome Variant Server PTPRM_000073 14/13006 2/8600 12/4406
?/? c.838+23A>T r.(=) p.(=) g.7949376A>T Copied from the Exome Variant Server PTPRM_000074 60/13006 0/8600 60/4406
?/? c.839-49A>C r.(=) p.(=) g.7955070A>C Copied from the Exome Variant Server PTPRM_000076 1/13006 0/8600 1/4406
?/? c.846C>T r.(=) p.(=) g.7955126C>T Copied from the Exome Variant Server PTPRM_000078 3/13006 2/8600 1/4406
?/? c.847G>A r.(?) p.(Val283Ile) g.7955127G>A Copied from the Exome Variant Server PTPRM_000081 1/13006 1/8600 0/4406
?/? c.870C>T r.(=) p.(=) g.7955150C>T Copied from the Exome Variant Server PTPRM_000083 2/13006 0/8600 2/4406
?/? c.871G>A r.(?) p.(Ala291Thr) g.7955151G>A Copied from the Exome Variant Server PTPRM_000057 2/13006 0/8600 2/4406
?/? c.909C>T r.(=) p.(=) g.7955189C>T Copied from the Exome Variant Server PTPRM_000058 1/13006 0/8600 1/4406
?/? c.923A>G r.(?) p.(Asn308Ser) g.7955203A>G Copied from the Exome Variant Server PTPRM_000060 1/13006 1/8600 0/4406
?/? c.933G>A r.(=) p.(=) g.7955213G>A Copied from the Exome Variant Server PTPRM_000062 4/13006 4/8600 0/4406
?/? c.994C>A r.(?) p.(Pro332Thr) g.7955274C>A Copied from the Exome Variant Server PTPRM_000065 1/13006 0/8600 1/4406
?/? c.999C>T r.(=) p.(=) g.7955279C>T Copied from the Exome Variant Server PTPRM_000066 201/13006 2/8600 199/4406
?/? c.1007C>T r.(?) p.(Thr336Met) g.7955287C>T Copied from the Exome Variant Server PTPRM_000068 1/13006 0/8600 1/4406
?/? c.1104A>G r.(=) p.(=) g.7955384A>G Copied from the Exome Variant Server PTPRM_000070 1/13006 0/8600 1/4406
?/? c.1122A>T r.(=) p.(=) g.7955402A>T Copied from the Exome Variant Server PTPRM_000072 1/13006 1/8600 0/4406
?/? c.1133-12T>C r.(=) p.(=) g.8069672T>C Copied from the Exome Variant Server PTPRM_000075 1/13000 0/8594 1/4406
?/? c.1157T>C r.(?) p.(Leu386Pro) g.8069708T>C Copied from the Exome Variant Server PTPRM_000077 1/13006 1/8600 0/4406
?/? c.1196G>T r.(?) p.(Arg399Leu) g.8069747G>T Copied from the Exome Variant Server PTPRM_000079 1/13006 0/8600 1/4406
?/? c.1206A>G r.(=) p.(=) g.8069757A>G Copied from the Exome Variant Server PTPRM_000080 159/13006 100/8600 59/4406
?/? c.1258T>C r.(?) p.(Cys420Arg) g.8069809T>C Copied from the Exome Variant Server PTPRM_000082 1/13006 0/8600 1/4406
?/? c.1264C>A r.(?) p.(Gln422Lys) g.8069815C>A Copied from the Exome Variant Server PTPRM_000084 1/13006 0/8600 1/4406
?/? c.1281A>G r.(=) p.(=) g.8069832A>G Copied from the Exome Variant Server PTPRM_000085 3/13006 3/8600 0/4406
?/? c.1317C>T r.(=) p.(=) g.8069868C>T Copied from the Exome Variant Server PTPRM_000086 6957/13006 4451/8600 2506/4406
?/? c.1334C>T r.(?) p.(Thr445Met) g.8069885C>T Copied from the Exome Variant Server PTPRM_000087 1/13006 1/8600 0/4406
?/? c.1335G>A r.(=) p.(=) g.8069886G>A Copied from the Exome Variant Server PTPRM_000088 222/13006 3/8600 219/4406
?/? c.1356C>T r.(=) p.(=) g.8069907C>T Copied from the Exome Variant Server PTPRM_000089 1/13006 1/8600 0/4406
?/? c.1400G>T r.(?) p.(Arg467Leu) g.8069951G>T Copied from the Exome Variant Server PTPRM_000090 1/13006 1/8600 0/4406
?/? c.1441C>T r.(?) p.(Leu481Phe) g.8069992C>T Copied from the Exome Variant Server PTPRM_000091 1/13006 1/8600 0/4406
?/? c.1441+21T>C r.(=) p.(=) g.8070013T>C Copied from the Exome Variant Server PTPRM_000092 1/13006 0/8600 1/4406
?/? c.1441+36T>C r.(=) p.(=) g.8070028T>C Copied from the Exome Variant Server PTPRM_000093 1/13006 1/8600 0/4406
?/? c.1442-34A>G r.(=) p.(=) g.8076419A>G Copied from the Exome Variant Server PTPRM_000094 2/13002 2/8598 0/4404
?/? c.1442-26A>T r.(=) p.(=) g.8076427A>T Copied from the Exome Variant Server PTPRM_000095 2/13004 0/8598 2/4406
?/? c.1442-9C>A r.(=) p.(=) g.8076444C>A Copied from the Exome Variant Server PTPRM_000096 1/13002 0/8596 1/4406
?/? c.1497A>G r.(?) p.(Ile499Met) g.8076508A>G Copied from the Exome Variant Server PTPRM_000097 13/13002 13/8596 0/4406
?/? c.1498T>C r.(?) p.(Phe500Leu) g.8076509T>C Copied from the Exome Variant Server PTPRM_000098 1/13002 0/8596 1/4406
?/? c.1527A>G r.(=) p.(=) g.8076538A>G Copied from the Exome Variant Server PTPRM_000099 1/13004 0/8598 1/4406
?/? c.1552-50T>C r.(=) p.(=) g.8085619T>C Copied from the Exome Variant Server PTPRM_000100 320/13000 3/8596 317/4404
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