All transcript variants in gene TYMP

Information The variants shown are described using the NM_001953.3 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-10-36G>T r.(=) p.(=) g.50968184C>A Copied from the Exome Variant Server TYMP_000070 14/12674 0/8398 14/4276
?/? c.-2C>A r.(=) p.(=) g.50968140G>T Copied from the Exome Variant Server TYMP_000069 1/12904 1/8552 0/4352
?/? c.28G>A r.(?) p.(Gly10Arg) g.50968111C>T Copied from the Exome Variant Server TYMP_000068 1/12950 1/8576 0/4374
?/? c.76C>G r.(?) p.(Leu26Val) g.50968063G>C Copied from the Exome Variant Server TYMP_000067 1/12996 1/8592 0/4404
?/? c.84C>T r.(=) p.(=) g.50968055G>A Copied from the Exome Variant Server TYMP_000066 1/12996 0/8592 1/4404
?/? c.111G>A r.(=) p.(=) g.50968028C>T Copied from the Exome Variant Server TYMP_000065 1/13004 0/8598 1/4406
?/? c.136G>A r.(?) p.(Gly46Arg) g.50968003C>T Copied from the Exome Variant Server TYMP_000064 1/13006 0/8600 1/4406
?/? c.177C>T r.(=) p.(=) g.50967962G>A Copied from the Exome Variant Server TYMP_000063 2/13002 2/8600 0/4402
?/? c.193A>G r.(?) p.(Ser65Gly) g.50967946T>C Copied from the Exome Variant Server TYMP_000062 3/13002 2/8598 1/4404
?/? c.195C>T r.(=) p.(=) g.50967944G>A Copied from the Exome Variant Server TYMP_000061 1/13002 0/8598 1/4404
?/? c.204C>T r.(=) p.(=) g.50967935G>A Copied from the Exome Variant Server TYMP_000060 232/13000 1/8596 231/4404
?/? c.214+13G>A r.(=) p.(=) g.50967912C>T Copied from the Exome Variant Server TYMP_000059 150/12998 139/8594 11/4404
?/? c.214+33G>A r.(=) p.(=) g.50967892C>T Copied from the Exome Variant Server TYMP_000058 1/13000 1/8594 0/4406
?/? c.214+44C>T r.(=) p.(=) g.50967881G>A Copied from the Exome Variant Server TYMP_000057 1/13000 1/8596 0/4404
?/? c.214+49C>T r.(=) p.(=) g.50967876G>A Copied from the Exome Variant Server TYMP_000056 1/12998 0/8594 1/4404
?/? c.215-41C>A r.(=) p.(=) g.50967808G>T Copied from the Exome Variant Server TYMP_000055 1/12978 0/8580 1/4398
?/? c.215-8C>T r.(=) p.(=) g.50967775G>A Copied from the Exome Variant Server TYMP_000054 11/12988 0/8592 11/4396
?/? c.242G>A r.(?) p.(Arg81Gln) g.50967740C>T Copied from the Exome Variant Server TYMP_000053 17/13004 15/8598 2/4406
?/? c.267G>A r.(=) p.(=) g.50967715C>T Copied from the Exome Variant Server TYMP_000052 2/13004 2/8598 0/4406
?/? c.401C>T r.(?) p.(Ala134Val) g.50967581G>A Copied from the Exome Variant Server TYMP_000051 4/13006 3/8600 1/4406
?/? c.417G>C r.(?) p.(Lys139Asn) g.50967565C>G Copied from the Exome Variant Server TYMP_000050 1/13004 1/8598 0/4406
?/? c.417+5G>A r.spl? p.? g.50967560C>T Copied from the Exome Variant Server TYMP_000049 1/13004 0/8598 1/4406
?/? c.417+38C>T r.(=) p.(=) g.50967527G>A Copied from the Exome Variant Server TYMP_000048 1/12966 0/8574 1/4392
?/? c.418-42G>A r.(=) p.(=) g.50967081C>T Copied from the Exome Variant Server TYMP_000047 1/12998 1/8598 0/4400
?/? c.437G>A r.(?) p.(Arg146His) g.50967020C>T Copied from the Exome Variant Server TYMP_000046 4/13006 4/8600 0/4406
?/? c.494A>G r.(?) p.(Asn165Ser) g.50966963T>C Copied from the Exome Variant Server TYMP_000045 1/13006 0/8600 1/4406
?/? c.495T>C r.(=) p.(=) g.50966962A>G Copied from the Exome Variant Server TYMP_000044 1/13006 1/8600 0/4406
?/? c.516+4C>T r.spl? p.? g.50966937G>A Copied from the Exome Variant Server TYMP_000043 1/13004 1/8600 0/4404
?/? c.516+27A>G r.(=) p.(=) g.50966914T>C Copied from the Exome Variant Server TYMP_000042 6871/13002 5282/8600 1589/4402
?/? c.517-38T>C r.(=) p.(=) g.50966184A>G Copied from the Exome Variant Server TYMP_000041 522/13004 5/8600 517/4404
?/? c.517-27C>T r.(=) p.(=) g.50966173G>A Copied from the Exome Variant Server TYMP_000040 3/13004 0/8600 3/4404
?/? c.517-17A>G r.(=) p.(=) g.50966163T>C Copied from the Exome Variant Server TYMP_000039 2/13006 2/8600 0/4406
?/? c.517-15G>A r.(=) p.(=) g.50966161C>T Copied from the Exome Variant Server TYMP_000038 2/13006 2/8600 0/4406
?/? c.519G>A r.(?) p.(Met173Ile) g.50966144C>T Copied from the Exome Variant Server TYMP_000037 26/13006 0/8600 26/4406
?/? c.563G>C r.(?) p.(Ser188Thr) g.50966100C>G Copied from the Exome Variant Server TYMP_000036 1/13006 1/8600 0/4406
?/? c.586G>A r.(?) p.(Gly196Arg) g.50966077C>T Copied from the Exome Variant Server TYMP_000035 1/13006 1/8600 0/4406
?/? c.622G>A r.(?) p.(Val208Met) g.50966041C>T Copied from the Exome Variant Server TYMP_000034 8/13006 6/8600 2/4406
?/? c.639C>T r.(=) p.(=) g.50966024G>A Copied from the Exome Variant Server TYMP_000033 3/13006 0/8600 3/4406
?/? c.646+8G>A r.(=) p.(=) g.50966009C>T Copied from the Exome Variant Server TYMP_000032 5/13006 5/8600 0/4406
?/? c.646+27G>C r.(=) p.(=) g.50965990C>G Copied from the Exome Variant Server TYMP_000031 16/13006 0/8600 16/4406
?/? c.646+36C>T r.(=) p.(=) g.50965981G>A Copied from the Exome Variant Server TYMP_000030 1/13006 0/8600 1/4406
?/? c.647-47A>T r.(=) p.(=) g.50965759T>A Copied from the Exome Variant Server TYMP_000029 5/12992 4/8592 1/4400
?/? c.647-31T>C r.(=) p.(=) g.50965743A>G Copied from the Exome Variant Server TYMP_000028 1/13002 0/8598 1/4404
?/? c.647-12C>T r.(=) p.(=) g.50965724G>A Copied from the Exome Variant Server TYMP_000027 3/13006 0/8600 3/4406
?/? c.665A>G r.(?) p.(Lys222Arg) g.50965694T>C Copied from the Exome Variant Server TYMP_000026 2/13006 0/8600 2/4406
?/? c.675G>A r.(=) p.(=) g.50965684C>T Copied from the Exome Variant Server TYMP_000025 1/13006 0/8600 1/4406
?/? c.676G>A r.(?) p.(Gly226Arg) g.50965683C>T Copied from the Exome Variant Server TYMP_000024 2/13006 2/8600 0/4406
?/? c.735G>A r.(=) p.(=) g.50965624C>T Copied from the Exome Variant Server TYMP_000023 5/13002 5/8600 0/4402
?/? c.750G>A r.(=) p.(=) g.50965609C>T Copied from the Exome Variant Server TYMP_000022 1/13002 0/8600 1/4402
?/? c.765+26C>A r.(=) p.(=) g.50965568G>T Copied from the Exome Variant Server TYMP_000021 1/13002 1/8598 0/4404
?/? c.765+38T>C r.(=) p.(=) g.50965556A>G Copied from the Exome Variant Server TYMP_000020 1/13000 0/8596 1/4404
?/? c.803C>A r.(?) p.(Ala268Glu) g.50965130G>T Copied from the Exome Variant Server TYMP_000019 1/12276 0/8170 1/4106
?/? c.831G>A r.(=) p.(=) g.50965102C>T Copied from the Exome Variant Server TYMP_000018 391/12692 10/8436 381/4256
?/? c.858G>A r.(=) p.(=) g.50965075C>T Copied from the Exome Variant Server TYMP_000017 2/12790 1/8478 1/4312
?/? c.928+8G>A r.(=) p.(=) g.50964997C>T Copied from the Exome Variant Server TYMP_000016 1/12622 0/8374 1/4248
?/? c.929-6_929-3del r.spl? p.? g.50964908_50964911del Copied from the Exome Variant Server TYMP_000015 55/5224 53/3778 2/1446
?/? c.972C>T r.(=) p.(=) g.50964862G>A Copied from the Exome Variant Server TYMP_000014 4397/6974 3366/4986 1031/1988
?/? c.1074A>G r.(=) p.(=) g.50964760T>C Copied from the Exome Variant Server TYMP_000013 5/9054 0/6366 5/2688
?/? c.1159+12G>A r.(=) p.(=) g.50964663C>T Copied from the Exome Variant Server TYMP_000012 17/8550 0/5944 17/2606
?/? c.1160-48G>A r.(=) p.(=) g.50964618C>T Copied from the Exome Variant Server TYMP_000011 119/7486 5/5262 114/2224
?/? c.1160-43C>T r.(=) p.(=) g.50964613G>A Copied from the Exome Variant Server TYMP_000010 2/7232 1/5094 1/2138
?/? c.1160-29C>G r.(=) p.(=) g.50964599G>C Copied from the Exome Variant Server TYMP_000009 111/6812 107/4808 4/2004
?/? c.1389C>T r.(=) p.(=) g.50964259G>A Copied from the Exome Variant Server TYMP_000008 1/12208 1/8108 0/4100
?/? c.1393G>A r.(?) p.(Ala465Thr) g.50964255C>T Copied from the Exome Variant Server TYMP_000007 464/12262 417/8134 47/4128
?/? c.1412C>T r.(?) p.(Ser471Leu) g.50964236G>A Copied from the Exome Variant Server TYMP_000006 846/12376 663/8214 183/4162
?/? c.1413G>A r.(=) p.(=) g.50964235C>T Copied from the Exome Variant Server TYMP_000004 1/12402 1/8234 0/4168
?/? c.1441C>T r.(?) p.(Gln481*) g.50964207G>A Copied from the Exome Variant Server TYMP_000002 1/12508 0/8300 1/4208
?/? c.1443G>A r.(=) p.(=) g.50964205C>T Copied from the Exome Variant Server TYMP_000001 2/12538 2/8324 0/4214
?/? c.*3C>T r.(=) p.(=) g.50964196G>A Copied from the Exome Variant Server TYMP_000005 1/12600 1/8366 0/4234
?/? c.*10G>A r.(=) p.(=) g.50964189C>T Copied from the Exome Variant Server TYMP_000003 1/12578 1/8354 0/4224
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