All transcript variants in gene ADHFE1

Information The variants shown are described using the NM_144650.2 transcript reference sequence.

108 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.6C>T r.(=) p.(=) g.67344757C>T Copied from the Exome Variant Server ADHFE1_000003 5/10856 4/7554 1/3302
?/? c.14C>T r.(?) p.(Ala5Val) g.67344765C>T Copied from the Exome Variant Server ADHFE1_000005 38/10744 36/7498 2/3246
?/? c.16C>T r.(?) p.(Arg6*) g.67344767C>T Copied from the Exome Variant Server ADHFE1_000007 2/10762 2/7508 0/3254
?/? c.59+13C>T r.(=) p.(=) g.67344823C>T Copied from the Exome Variant Server ADHFE1_000009 1/10132 1/7044 0/3088
?/? c.60-59_60-58insT r.(=) p.(=) g.67352338_67352339insT Copied from the Exome Variant Server ADHFE1_000011 1/11364 1/7824 0/3540
?/? c.60-31del r.(=) p.(=) g.67352366del Copied from the Exome Variant Server ADHFE1_000014 72/11328 47/7814 25/3514
?/? c.60-31dup r.(=) p.(=) g.67352366dup Copied from the Exome Variant Server ADHFE1_000013 112/11328 40/7814 72/3514
?/? c.60-31_60-30insTT r.(=) p.(=) g.67352366_67352367insTT Copied from the Exome Variant Server ADHFE1_000017 23/11328 16/7814 7/3514
?/? c.80C>G r.(?) p.(Ser27Cys) g.67352417C>G Copied from the Exome Variant Server ADHFE1_000019 1/11824 1/8170 0/3654
?/? c.97+17T>C r.(=) p.(=) g.67352451T>C Copied from the Exome Variant Server ADHFE1_000001 4/11804 1/8162 3/3642
?/? c.97+32A>G r.(=) p.(=) g.67352466A>G Copied from the Exome Variant Server ADHFE1_000002 1/11832 0/8172 1/3660
?/? c.98-31C>A r.(=) p.(=) g.67355002C>A Copied from the Exome Variant Server ADHFE1_000004 1/11744 0/8126 1/3618
?/? c.144+46A>T r.(=) p.(=) g.67355125A>T Copied from the Exome Variant Server ADHFE1_000006 1/11634 1/8080 0/3554
?/? c.144+46_144+49del r.(=) p.(=) g.67355125_67355128del Copied from the Exome Variant Server ADHFE1_000008 1/11198 1/7748 0/3450
?/? c.144+55_144+56del r.(=) p.(=) g.67355134_67355135del Copied from the Exome Variant Server ADHFE1_000010 1/11194 1/7744 0/3450
?/? c.145-11A>G r.(=) p.(=) g.67356591A>G Copied from the Exome Variant Server ADHFE1_000012 2/13006 0/8600 2/4406
?/? c.148G>C r.(?) p.(Ala50Pro) g.67356605G>C Copied from the Exome Variant Server ADHFE1_000015 1/13006 1/8600 0/4406
?/? c.160A>G r.(?) p.(Ile54Val) g.67356617A>G Copied from the Exome Variant Server ADHFE1_000016 2/13006 0/8600 2/4406
?/? c.170G>C r.(?) p.(Gly57Ala) g.67356627G>C Copied from the Exome Variant Server ADHFE1_000018 5/13006 0/8600 5/4406
?/? c.198+11G>A r.(=) p.(=) g.67356666G>A Copied from the Exome Variant Server ADHFE1_000020 2/13006 1/8600 1/4406
?/? c.198+21C>T r.(=) p.(=) g.67356676C>T Copied from the Exome Variant Server ADHFE1_000021 15/13006 15/8600 0/4406
?/? c.198+22G>A r.(=) p.(=) g.67356677G>A Copied from the Exome Variant Server ADHFE1_000022 1/13006 1/8600 0/4406
?/? c.198+34T>G r.(=) p.(=) g.67356689T>G Copied from the Exome Variant Server ADHFE1_000023 1/13006 0/8600 1/4406
?/? c.198+36A>T r.(=) p.(=) g.67356691A>T Copied from the Exome Variant Server ADHFE1_000024 1/13006 0/8600 1/4406
?/? c.198+58C>T r.(=) p.(=) g.67356713C>T Copied from the Exome Variant Server ADHFE1_000025 2/4566 0/3182 2/1384
?/? c.199-13G>T r.(=) p.(=) g.67356816G>T Copied from the Exome Variant Server ADHFE1_000026 1/13006 1/8600 0/4406
?/? c.199G>C r.(?) p.(Asp67His) g.67356829G>C Copied from the Exome Variant Server ADHFE1_000027 1/13006 0/8600 1/4406
?/? c.202C>G r.(?) p.(Leu68Val) g.67356832C>G Copied from the Exome Variant Server ADHFE1_000028 30/13006 0/8600 30/4406
?/? c.246G>C r.(?) p.(Lys82Asn) g.67356876G>C Copied from the Exome Variant Server ADHFE1_000029 1/13006 1/8600 0/4406
?/? c.280A>G r.(?) p.(Met94Val) g.67356910A>G Copied from the Exome Variant Server ADHFE1_000030 1/13006 1/8600 0/4406
?/? c.315G>A r.(=) p.(=) g.67356945G>A Copied from the Exome Variant Server ADHFE1_000031 10/13006 1/8600 9/4406
?/? c.345G>A r.(=) p.(=) g.67356975G>A Copied from the Exome Variant Server ADHFE1_000032 1/13006 1/8600 0/4406
?/? c.351A>G r.(=) p.(=) g.67356981A>G Copied from the Exome Variant Server ADHFE1_000033 3/13006 0/8600 3/4406
?/? c.385G>A r.(?) p.(Gly129Arg) g.67357484G>A Copied from the Exome Variant Server ADHFE1_000034 12/13006 0/8600 12/4406
?/? c.407C>A r.(?) p.(Ala136Asp) g.67357506C>A Copied from the Exome Variant Server ADHFE1_000035 4/13006 0/8600 4/4406
?/? c.427A>G r.(?) p.(Met143Val) g.67357526A>G Copied from the Exome Variant Server ADHFE1_000036 2/13006 2/8600 0/4406
?/? c.446C>G r.(?) p.(Ala149Gly) g.67357545C>G Copied from the Exome Variant Server ADHFE1_000037 1/13006 1/8600 0/4406
?/? c.476A>G r.(?) p.(Asp159Gly) g.67357575A>G Copied from the Exome Variant Server ADHFE1_000038 1/13006 1/8600 0/4406
?/? c.523T>C r.(?) p.(Ser175Pro) g.67357622T>C Copied from the Exome Variant Server ADHFE1_000039 1/13006 0/8600 1/4406
?/? c.550+1G>A r.spl? p.? g.67357650G>A Copied from the Exome Variant Server ADHFE1_000040 1/13006 0/8600 1/4406
?/? c.550+18C>G r.(=) p.(=) g.67357667C>G Copied from the Exome Variant Server ADHFE1_000041 2/13006 2/8600 0/4406
?/? c.550+41G>T r.(=) p.(=) g.67357690G>T Copied from the Exome Variant Server ADHFE1_000042 7674/13006 4443/8600 3231/4406
?/? c.550+49G>T r.(=) p.(=) g.67357698G>T Copied from the Exome Variant Server ADHFE1_000043 7/13006 0/8600 7/4406
?/? c.551-31C>G r.(=) p.(=) g.67359468C>G Copied from the Exome Variant Server ADHFE1_000044 1/12998 1/8598 0/4400
?/? c.605A>G r.(?) p.(Tyr202Cys) g.67359553A>G Copied from the Exome Variant Server ADHFE1_000045 2/13006 0/8600 2/4406
?/? c.626T>A r.(?) p.(Ile209Asn) g.67359574T>A Copied from the Exome Variant Server ADHFE1_000046 1/13006 0/8600 1/4406
?/? c.628+26T>A r.(=) p.(=) g.67359602T>A Copied from the Exome Variant Server ADHFE1_000047 220/13006 9/8600 211/4406
?/? c.629-38C>T r.(=) p.(=) g.67361062C>T Copied from the Exome Variant Server ADHFE1_000048 2/13006 0/8600 2/4406
?/? c.629-34G>A r.(=) p.(=) g.67361066G>A Copied from the Exome Variant Server ADHFE1_000049 1/13006 1/8600 0/4406
?/? c.629-28G>C r.(=) p.(=) g.67361072G>C Copied from the Exome Variant Server ADHFE1_000051 499/13006 45/8600 454/4406
?/? c.629-24C>T r.(=) p.(=) g.67361076C>T Copied from the Exome Variant Server ADHFE1_000053 501/13006 46/8600 455/4406
?/? c.638C>T r.(?) p.(Ser213Leu) g.67361109C>T Copied from the Exome Variant Server ADHFE1_000055 1/13006 1/8600 0/4406
?/? c.641G>A r.(?) p.(Arg214Lys) g.67361112G>A Copied from the Exome Variant Server ADHFE1_000057 1/13006 1/8600 0/4406
?/? c.734+17C>T r.(=) p.(=) g.67361222C>T Copied from the Exome Variant Server ADHFE1_000059 11/13006 10/8600 1/4406
?/? c.748T>A r.(?) p.(Ser250Thr) g.67364201T>A Copied from the Exome Variant Server ADHFE1_000061 2/13006 1/8600 1/4406
?/? c.762G>A r.(=) p.(=) g.67364215G>A Copied from the Exome Variant Server ADHFE1_000063 1/13006 0/8600 1/4406
?/? c.771_780del r.(?) p.(Leu258Profs*34) g.67364224_67364233del Copied from the Exome Variant Server ADHFE1_000065 1/12518 1/8254 0/4264
?/? c.813G>A r.(=) p.(=) g.67364266G>A Copied from the Exome Variant Server ADHFE1_000067 27/13006 0/8600 27/4406
?/? c.819G>A r.(=) p.(=) g.67364272G>A Copied from the Exome Variant Server ADHFE1_000069 5/13006 0/8600 5/4406
?/? c.857C>T r.(?) p.(Ala286Val) g.67364310C>T Copied from the Exome Variant Server ADHFE1_000050 3/13006 2/8600 1/4406
?/? c.867C>T r.(=) p.(=) g.67364320C>T Copied from the Exome Variant Server ADHFE1_000052 2/13006 2/8600 0/4406
?/? c.868G>A r.(?) p.(Val290Met) g.67364321G>A Copied from the Exome Variant Server ADHFE1_000054 1/13006 1/8600 0/4406
?/? c.887+12C>T r.(=) p.(=) g.67364352C>T Copied from the Exome Variant Server ADHFE1_000056 2/13006 2/8600 0/4406
?/? c.887+13G>A r.(=) p.(=) g.67364353G>A Copied from the Exome Variant Server ADHFE1_000058 1/13006 0/8600 1/4406
?/? c.887+19G>A r.(=) p.(=) g.67364359G>A Copied from the Exome Variant Server ADHFE1_000060 98/13006 86/8600 12/4406
?/? c.888-351A>T r.(=) p.(=) g.67365943A>T Copied from the Exome Variant Server ADHFE1_000062 1/5734 0/3982 1/1752
?/? c.888-331C>A r.(=) p.(=) g.67365963C>A Copied from the Exome Variant Server ADHFE1_000064 4/5734 0/3982 4/1752
?/? c.888-289T>A r.(=) p.(=) g.67366005T>A Copied from the Exome Variant Server ADHFE1_000066 1/5734 1/3982 0/1752
?/? c.888-285C>G r.(=) p.(=) g.67366009C>G Copied from the Exome Variant Server ADHFE1_000068 1/5734 1/3982 0/1752
?/? c.888-281G>A r.(=) p.(=) g.67366013G>A Copied from the Exome Variant Server ADHFE1_000070 1/5734 1/3982 0/1752
?/? c.888-38G>A r.(=) p.(=) g.67366256G>A Copied from the Exome Variant Server ADHFE1_000071 106/13006 1/8600 105/4406
?/? c.905A>G r.(?) p.(Asp302Gly) g.67366311A>G Copied from the Exome Variant Server ADHFE1_000072 2/13006 2/8600 0/4406
?/? c.968A>T r.(?) p.(Asn323Ile) g.67366374A>T Copied from the Exome Variant Server ADHFE1_000074 5/13006 0/8600 5/4406
?/? c.986+25C>T r.(=) p.(=) g.67366417C>T Copied from the Exome Variant Server ADHFE1_000076 1/13006 0/8600 1/4406
?/? c.1023G>C r.(?) p.(Lys341Asn) g.67369088G>C Copied from the Exome Variant Server ADHFE1_000078 8/13002 0/8598 8/4404
?/? c.1060C>G r.(?) p.(Leu354Val) g.67369125C>G Copied from the Exome Variant Server ADHFE1_000080 1/12990 1/8586 0/4404
?/? c.1066-26G>A r.(=) p.(=) g.67369279G>A Copied from the Exome Variant Server ADHFE1_000082 2/13006 2/8600 0/4406
?/? c.1066-12G>A r.(=) p.(=) g.67369293G>A Copied from the Exome Variant Server ADHFE1_000084 1/13006 1/8600 0/4406
?/? c.1091C>T r.(?) p.(Thr364Met) g.67369330C>T Copied from the Exome Variant Server ADHFE1_000086 1/13006 1/8600 0/4406
?/? c.1092G>A r.(=) p.(=) g.67369331G>A Copied from the Exome Variant Server ADHFE1_000088 1/13006 0/8600 1/4406
?/? c.1116G>C r.(=) p.(=) g.67369355G>C Copied from the Exome Variant Server ADHFE1_000090 2565/13006 1562/8600 1003/4406
?/? c.1162+1G>A r.spl? p.? g.67369402G>A Copied from the Exome Variant Server ADHFE1_000092 1/13006 1/8600 0/4406
?/? c.1162+31G>A r.(=) p.(=) g.67369432G>A Copied from the Exome Variant Server ADHFE1_000094 1/13006 0/8600 1/4406
?/? c.1163-49G>C r.(=) p.(=) g.67372494G>C Copied from the Exome Variant Server ADHFE1_000096 2/13006 0/8600 2/4406
?/? c.1163-44C>T r.(=) p.(=) g.67372499C>T Copied from the Exome Variant Server ADHFE1_000073 2/13006 2/8600 0/4406
?/? c.1168G>A r.(?) p.(Asp390Asn) g.67372548G>A Copied from the Exome Variant Server ADHFE1_000075 1/13006 0/8600 1/4406
?/? c.1175G>A r.(?) p.(Arg392His) g.67372555G>A Copied from the Exome Variant Server ADHFE1_000077 2/13006 2/8600 0/4406
?/? c.1218G>A r.(=) p.(=) g.67372598G>A Copied from the Exome Variant Server ADHFE1_000079 3/13006 1/8600 2/4406
?/? c.1236C>G r.(?) p.(Phe412Leu) g.67372616C>G Copied from the Exome Variant Server ADHFE1_000081 1/13006 0/8600 1/4406
?/? c.1237G>A r.(?) p.(Asp413Asn) g.67372617G>A Copied from the Exome Variant Server ADHFE1_000083 1/13006 0/8600 1/4406
?/? c.1279A>G r.(?) p.(Lys427Glu) g.67372659A>G Copied from the Exome Variant Server ADHFE1_000085 1/13006 1/8600 0/4406
?/? c.1292C>G r.(?) p.(Pro431Arg) g.67372672C>G Copied from the Exome Variant Server ADHFE1_000087 1/13006 1/8600 0/4406
?/? c.1294G>A r.(?) p.(Ala432Thr) g.67372674G>A Copied from the Exome Variant Server ADHFE1_000089 4/13006 0/8600 4/4406
?/? c.1302G>A r.(=) p.(=) g.67372682G>A Copied from the Exome Variant Server ADHFE1_000091 1/13006 1/8600 0/4406
?/? c.1310C>T r.(?) p.(Thr437Met) g.67372690C>T Copied from the Exome Variant Server ADHFE1_000093 1/13006 0/8600 1/4406
?/? c.1320+17C>T r.(=) p.(=) g.67372717C>T Copied from the Exome Variant Server ADHFE1_000095 1/13006 0/8600 1/4406
?/? c.1320+32G>A r.(=) p.(=) g.67372732G>A Copied from the Exome Variant Server ADHFE1_000097 2/13006 2/8600 0/4406
?/? c.1320+43G>T r.(=) p.(=) g.67372743G>T Copied from the Exome Variant Server ADHFE1_000098 860/13006 409/8600 451/4406
?/? c.1320+44C>T r.(=) p.(=) g.67372744C>T Copied from the Exome Variant Server ADHFE1_000099 125/13006 112/8600 13/4406
?/? c.1321-35A>G r.(=) p.(=) g.67380469A>G Copied from the Exome Variant Server ADHFE1_000100 1/13006 1/8600 0/4406
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