Full data view for gene TH

Information The variants shown are described using the NM_000360.3 transcript reference sequence.

147 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.-18G>A r.(=) p.(=) g.2193034C>T Copied from the Exome Variant Server TH_000147 2/13000 2/8598 0/4402 - - - - - - -
?/? c.-7C>T r.(=) p.(=) g.2193023G>A Copied from the Exome Variant Server TH_000146 17/13000 0/8598 17/4402 - - - - - - -
?/? c.5C>T r.(?) p.(Pro2Leu) g.2193012G>A Copied from the Exome Variant Server TH_000145 1/13000 0/8598 1/4402 - - - - - - -
?/? c.12C>T r.(=) p.(=) g.2193005G>A Copied from the Exome Variant Server TH_000144 3/12998 3/8596 0/4402 - - - - - - -
?/? c.16G>A r.(?) p.(Ala6Thr) g.2193001C>T Copied from the Exome Variant Server TH_000142 59/13002 54/8598 5/4404 - - - - - - -
?/? c.23C>T r.(?) p.(Thr8Met) g.2192994G>A Copied from the Exome Variant Server TH_000140 1/13002 0/8598 1/4404 - - - - - - -
?/? c.44G>A r.(?) p.(Arg15His) g.2192973C>T Copied from the Exome Variant Server TH_000138 1/13002 1/8598 0/4404 - - - - - - -
?/? c.66C>T r.(=) p.(=) g.2192951G>A Copied from the Exome Variant Server TH_000136 1/13002 1/8598 0/4404 - - - - - - -
?/? c.67G>A r.(?) p.(Ala23Thr) g.2192950C>T Copied from the Exome Variant Server TH_000134 2/13002 0/8598 2/4404 - - - - - - -
?/? c.81G>T r.(?) p.(Glu27Asp) g.2192936C>A Copied from the Exome Variant Server TH_000132 24/13002 0/8598 24/4404 - - - - - - -
?/? c.90G>A r.(?) p.(Met30Ile) g.2192927C>T Copied from the Exome Variant Server TH_000130 3/13002 0/8598 3/4404 - - - - - - -
?/? c.90+13G>A r.(=) p.(=) g.2192914C>T Copied from the Exome Variant Server TH_000128 1/13002 1/8598 0/4404 - - - - - - -
?/? c.90+25C>T r.(=) p.(=) g.2192902G>A Copied from the Exome Variant Server TH_000126 2/12998 2/8596 0/4402 - - - - - - -
?/? c.90+30G>A r.(=) p.(=) g.2192897C>T Copied from the Exome Variant Server TH_000124 2/12996 2/8594 0/4402 - - - - - - -
?/? c.90+39C>T r.(=) p.(=) g.2192888G>A Copied from the Exome Variant Server TH_000122 19/12996 18/8594 1/4402 - - - - - - -
?/? c.90+49G>A r.(=) p.(=) g.2192878C>T Copied from the Exome Variant Server TH_000120 3/12994 3/8592 0/4402 - - - - - - -
?/? c.90+50G>A r.(=) p.(=) g.2192877C>T Copied from the Exome Variant Server TH_000143 2/12994 2/8592 0/4402 - - - - - - -
?/? c.90+61C>T r.(=) p.(=) g.2192866G>A Copied from the Exome Variant Server TH_000141 1/12984 1/8584 0/4400 - - - - - - -
?/? c.91-896G>A r.(=) p.(=) g.2191997C>T Copied from the Exome Variant Server TH_000139 3/12728 3/8458 0/4270 - - - - - - -
?/? c.91-891G>A r.(=) p.(=) g.2191992C>T Copied from the Exome Variant Server TH_000137 1/12876 0/8530 1/4346 - - - - - - -
?/? c.91-868C>T r.(=) p.(=) g.2191969G>A Copied from the Exome Variant Server TH_000135 1/12976 0/8588 1/4388 - - - - - - -
?/? c.91-848C>T r.(=) p.(=) g.2191949G>A Copied from the Exome Variant Server TH_000133 1/12990 0/8590 1/4400 - - - - - - -
?/? c.96G>A r.(=) p.(=) g.2191096C>T Copied from the Exome Variant Server TH_000131 1/12944 1/8570 0/4374 - - - - - - -
?/? c.108G>A r.(=) p.(=) g.2191084C>T Copied from the Exome Variant Server TH_000129 1/12954 1/8568 0/4386 - - - - - - -
?/? c.110G>A r.(?) p.(Arg37His) g.2191082C>T Copied from the Exome Variant Server TH_000127 1/12954 0/8566 1/4388 - - - - - - -
?/? c.152C>T r.(?) p.(Ala51Val) g.2191040G>A Copied from the Exome Variant Server TH_000125 1/12794 0/8454 1/4340 - - - - - - -
?/? c.153G>A r.(=) p.(=) g.2191039C>T Copied from the Exome Variant Server TH_000123 1/12782 0/8446 1/4336 - - - - - - -
?/? c.186G>A r.(=) p.(=) g.2191006C>T Copied from the Exome Variant Server TH_000121 349/12978 6/8592 343/4386 - - - - - - -
?/? c.195G>A r.(=) p.(=) g.2190997C>T Copied from the Exome Variant Server TH_000119 1/12996 1/8596 0/4400 - - - - - - -
?/? c.202C>T r.(=) p.(=) g.2190990G>A Copied from the Exome Variant Server TH_000118 1/13002 1/8598 0/4404 - - - - - - -
?/? c.205G>A r.(?) p.(Glu69Lys) g.2190987C>T Copied from the Exome Variant Server TH_000117 1/13002 1/8598 0/4404 - - - - - - -
?/? c.210T>C r.(=) p.(=) g.2190982A>G Copied from the Exome Variant Server TH_000116 535/13000 13/8596 522/4404 - - - - - - -
?/? c.240C>T r.(=) p.(=) g.2190952G>A Copied from the Exome Variant Server TH_000115 3/13000 0/8598 3/4402 - - - - - - -
?/? c.241G>A r.(?) p.(Val81Met) g.2190951C>T Copied from the Exome Variant Server TH_000114 3744/13000 3121/8598 623/4402 - - - - - - -
?/? c.263C>A r.(?) p.(Pro88Gln) g.2190929G>T Copied from the Exome Variant Server TH_000113 1/13002 1/8598 0/4404 - - - - - - -
?/? c.267G>A r.(=) p.(=) g.2190925C>T Copied from the Exome Variant Server TH_000112 50/13002 46/8598 4/4404 - - - - - - -
?/? c.288G>C r.(=) p.(=) g.2190904C>G Copied from the Exome Variant Server TH_000111 1/13002 1/8598 0/4404 - - - - - - -
?/? c.293G>A r.(?) p.(Arg98Gln) g.2190899C>T Copied from the Exome Variant Server TH_000110 1/13002 1/8598 0/4404 - - - - - - -
?/? c.304G>T r.(?) p.(Val102Leu) g.2190888C>A Copied from the Exome Variant Server TH_000109 1/13002 1/8598 0/4404 - - - - - - -
?/? c.312+17C>T r.(=) p.(=) g.2190863G>A Copied from the Exome Variant Server TH_000107 1/13002 1/8598 0/4404 - - - - - - -
?/? c.313-38_313-35del r.(=) p.(=) g.2189930_2189933del Copied from the Exome Variant Server TH_000105 18/12070 12/8108 6/3962 - - - - - - -
?/? c.363G>A r.(=) p.(=) g.2189845C>T Copied from the Exome Variant Server TH_000108 6/12910 6/8576 0/4334 - - - - - - -
?/? c.365G>A r.(?) p.(Arg122Gln) g.2189843C>T Copied from the Exome Variant Server TH_000106 3/12912 3/8576 0/4336 - - - - - - -
?/? c.391T>G r.(?) p.(Phe131Val) g.2189817A>C Copied from the Exome Variant Server TH_000104 2/12934 2/8572 0/4362 - - - - - - -
?/? c.397C>T r.(?) p.(Arg133Cys) g.2189811G>A Copied from the Exome Variant Server TH_000103 2/12932 1/8572 1/4360 - - - - - - -
?/? c.398G>A r.(?) p.(Arg133His) g.2189810C>T Copied from the Exome Variant Server TH_000102 1/12932 0/8570 1/4362 - - - - - - -
?/? c.403G>A r.(?) p.(Glu135Lys) g.2189805C>T Copied from the Exome Variant Server TH_000101 1/12944 0/8568 1/4376 - - - - - - -
?/? c.406G>A r.(?) p.(Val136Met) g.2189802C>T Copied from the Exome Variant Server TH_000100 3/12950 3/8570 0/4380 - - - - - - -
?/? c.452T>C r.(?) p.(Val151Ala) g.2189756A>G Copied from the Exome Variant Server TH_000099 4/12932 3/8558 1/4374 - - - - - - -
?/? c.459G>A r.(=) p.(=) g.2189749C>T Copied from the Exome Variant Server TH_000098 1/12928 1/8550 0/4378 - - - - - - -
?/? c.462C>T r.(=) p.(=) g.2189746G>A Copied from the Exome Variant Server TH_000097 1/12926 1/8550 0/4376 - - - - - - -
?/? c.463G>A r.(?) p.(Val155Met) g.2189745C>T Copied from the Exome Variant Server TH_000096 1/12912 1/8540 0/4372 - - - - - - -
?/? c.487+3G>A r.spl? p.? g.2189718C>T Copied from the Exome Variant Server TH_000095 95/12618 82/8362 13/4256 - - - - - - -
?/? c.488-44C>T r.(=) p.(=) g.2189453G>A Copied from the Exome Variant Server TH_000094 7/12996 0/8594 7/4402 - - - - - - -
?/? c.488-43G>A r.(=) p.(=) g.2189452C>T Copied from the Exome Variant Server TH_000093 13/12996 0/8594 13/4402 - - - - - - -
?/? c.550G>A r.(?) p.(Asp184Asn) g.2189347C>T Copied from the Exome Variant Server TH_000092 2/13002 2/8598 0/4404 - - - - - - -
?/? c.576G>A r.(=) p.(=) g.2189321C>T Copied from the Exome Variant Server TH_000091 1/13002 1/8598 0/4404 - - - - - - -
?/? c.576+8G>T r.(=) p.(=) g.2189313C>A Copied from the Exome Variant Server TH_000090 9/13002 0/8598 9/4404 - - - - - - -
?/? c.576+13C>T r.(=) p.(=) g.2189308G>A Copied from the Exome Variant Server TH_000089 1/13002 1/8598 0/4404 - - - - - - -
?/? c.577-22C>T r.(=) p.(=) g.2189185G>A Copied from the Exome Variant Server TH_000088 7820/12980 5718/8588 2102/4392 - - - - - - -
?/? c.579C>T r.(=) p.(=) g.2189161G>A Copied from the Exome Variant Server TH_000087 80/12980 0/8592 80/4388 - - - - - - -
?/? c.584C>T r.(?) p.(Ser195Leu) g.2189156G>A Copied from the Exome Variant Server TH_000086 1/12984 1/8596 0/4388 - - - - - - -
?/? c.585G>A r.(=) p.(=) g.2189155C>T Copied from the Exome Variant Server TH_000085 2/12984 2/8596 0/4388 - - - - - - -
?/? c.599G>A r.(?) p.(Arg200His) g.2189141C>T Copied from the Exome Variant Server TH_000084 3/12988 3/8596 0/4392 - - - - - - -
?/? c.605G>A r.(?) p.(Arg202His) g.2189135C>T Copied from the Exome Variant Server TH_000083 1/12988 0/8596 1/4392 - - - - - - -
?/? c.642G>A r.(=) p.(=) g.2189098C>T Copied from the Exome Variant Server TH_000082 1/12984 1/8596 0/4388 - - - - - - -
?/? c.644+15C>A r.(=) p.(=) g.2189081G>T Copied from the Exome Variant Server TH_000081 7/12962 7/8586 0/4376 - - - - - - -
?/? c.644+48C>T r.(=) p.(=) g.2189048G>A Copied from the Exome Variant Server TH_000080 3/12886 1/8546 2/4340 - - - - - - -
?/? c.645-74A>T r.(=) p.(=) g.2188789T>A Copied from the Exome Variant Server TH_000079 56/4556 0/3174 56/1382 - - - - - - -
?/? c.645-26C>T r.(=) p.(=) g.2188741G>A Copied from the Exome Variant Server TH_000078 1/12710 1/8448 0/4262 - - - - - - -
?/? c.645-16C>G r.(=) p.(=) g.2188731G>C Copied from the Exome Variant Server TH_000077 1/12740 0/8472 1/4268 - - - - - - -
?/? c.649G>A r.(?) p.(Asp217Asn) g.2188711C>T Copied from the Exome Variant Server TH_000076 1/12764 1/8464 0/4300 - - - - - - -
?/? c.653C>T r.(?) p.(Pro218Leu) g.2188707G>A Copied from the Exome Variant Server TH_000075 2/12800 0/8478 2/4322 - - - - - - -
?/? c.662G>A r.(?) p.(Arg221His) g.2188698C>T Copied from the Exome Variant Server TH_000074 3/12828 0/8498 3/4330 - - - - - - -
?/? c.674C>A r.(?) p.(Thr225Asn) g.2188686G>T Copied from the Exome Variant Server TH_000073 1/12846 0/8520 1/4326 - - - - - - -
?/? c.678C>T r.(=) p.(=) g.2188682G>A Copied from the Exome Variant Server TH_000072 1/12842 1/8514 0/4328 - - - - - - -
?/? c.684G>A r.(=) p.(=) g.2188676C>T Copied from the Exome Variant Server TH_000071 70/12848 62/8520 8/4328 - - - - - - -
?/? c.695+13T>C r.(=) p.(=) g.2188652A>G Copied from the Exome Variant Server TH_000070 9/12822 0/8508 9/4314 - - - - - - -
?/? c.695+25C>T r.(=) p.(=) g.2188640G>A Copied from the Exome Variant Server TH_000069 4/12774 0/8476 4/4298 - - - - - - -
?/? c.695+39G>A r.(=) p.(=) g.2188626C>T Copied from the Exome Variant Server TH_000068 135/12628 1/8382 134/4246 - - - - - - -
?/? c.720G>A r.(=) p.(=) g.2188238C>T Copied from the Exome Variant Server TH_000066 3194/12924 2647/8570 547/4354 - - - - - - -
?/? c.739G>C r.(?) p.(Ala247Pro) g.2188219C>G Copied from the Exome Variant Server TH_000064 1/12928 1/8572 0/4356 - - - - - - -
?/? c.758A>T r.(?) p.(Glu253Val) g.2188200T>A Copied from the Exome Variant Server TH_000061 1/12934 0/8568 1/4366 - - - - - - -
?/? c.769T>C r.(=) p.(=) g.2188189A>G Copied from the Exome Variant Server TH_000059 1/12930 0/8564 1/4366 - - - - - - -
?/? c.778C>A r.(?) p.(Arg260Ser) g.2188180G>T Copied from the Exome Variant Server TH_000057 1/12924 0/8562 1/4362 - - - - - - -
?/? c.779G>T r.(?) p.(Arg260Leu) g.2188179C>A Copied from the Exome Variant Server TH_000055 1/12926 1/8562 0/4364 - - - - - - -
?/? c.841+12C>T r.(=) p.(=) g.2188105G>A Copied from the Exome Variant Server TH_000053 1/12914 1/8558 0/4356 - - - - - - -
?/? c.841+33G>A r.(=) p.(=) g.2188084C>T Copied from the Exome Variant Server TH_000051 1/12830 1/8518 0/4312 - - - - - - -
?/? c.841+35del r.(=) p.(=) g.2188082del Copied from the Exome Variant Server TH_000047 53/12264 27/8112 26/4152 - - - - - - -
?/? c.841+35G>A r.(=) p.(=) g.2188082C>T Copied from the Exome Variant Server TH_000049 3/12818 3/8508 0/4310 - - - - - - -
?/? c.841+43del r.(=) p.(=) g.2188074del Copied from the Exome Variant Server TH_000045 5/12276 1/8126 4/4150 - - - - - - -
?/? c.841+44G>C r.(=) p.(=) g.2188073C>G Copied from the Exome Variant Server TH_000067 3/12776 0/8478 3/4298 - - - - - - -
?/? c.897C>T r.(=) p.(=) g.2187943G>A Copied from the Exome Variant Server TH_000065 2/11978 2/8002 0/3976 - - - - - - -
?/? c.950C>A r.(?) p.(Ala317Glu) g.2187890G>T Copied from the Exome Variant Server TH_000063 1/12632 1/8382 0/4250 - - - - - - -
?/? c.977+8C>G r.(=) p.(=) g.2187855G>C Copied from the Exome Variant Server TH_000062 3282/12532 2753/8324 529/4208 - - - - - - -
?/? c.977+10C>T r.(=) p.(=) g.2187853G>A Copied from the Exome Variant Server TH_000060 1/12492 1/8292 0/4200 - - - - - - -
?/? c.977+28G>A r.(=) p.(=) g.2187835C>T Copied from the Exome Variant Server TH_000058 1/12394 1/8238 0/4156 - - - - - - -
?/? c.978-22C>T r.(=) p.(=) g.2187801G>A Copied from the Exome Variant Server TH_000056 1/12636 1/8406 0/4230 - - - - - - -
?/? c.984C>T r.(=) p.(=) g.2187773G>A Copied from the Exome Variant Server TH_000054 2/12646 2/8402 0/4244 - - - - - - -
?/? c.1035G>T r.(=) p.(=) g.2187722C>A Copied from the Exome Variant Server TH_000052 182/12630 4/8402 178/4228 - - - - - - -
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