All transcript variants in gene ALDH7A1

Information The variants shown are described using the NM_001182.4 transcript reference sequence.

113 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.-42_-41insA r.(=) p.(=) g.125930931_125930932insT Copied from the Exome Variant Server ALDH7A1_000113 8/10162 2/6714 6/3448
?/? c.34del r.(?) p.(Ala12Leufs*31) g.125930857del Copied from the Exome Variant Server ALDH7A1_000112 7/12414 0/8178 7/4236
?/? c.46_47insACCA r.(?) p.(Ser16Asnfs*42) g.125930844_125930845insTGGT Copied from the Exome Variant Server ALDH7A1_000111 1/12430 0/8190 1/4240
?/? c.63T>C r.(=) p.(=) g.125930828A>G Copied from the Exome Variant Server ALDH7A1_000110 5/13000 5/8594 0/4406
?/? c.95T>A r.(?) p.(Leu32His) g.125930796A>T Copied from the Exome Variant Server ALDH7A1_000109 1/13006 1/8600 0/4406
?/? c.111C>T r.(=) p.(=) g.125930780G>A Copied from the Exome Variant Server ALDH7A1_000108 1/13006 0/8600 1/4406
?/? c.139C>T r.(?) p.(Leu47Phe) g.125930752G>A Copied from the Exome Variant Server ALDH7A1_000107 1/13006 0/8600 1/4406
?/? c.183C>A r.(=) p.(=) g.125930708G>T Copied from the Exome Variant Server ALDH7A1_000106 1/13004 1/8600 0/4404
?/? c.192+17G>A r.(=) p.(=) g.125930682C>T Copied from the Exome Variant Server ALDH7A1_000105 1/12972 1/8578 0/4394
?/? c.192+26G>A r.(=) p.(=) g.125930673C>T Copied from the Exome Variant Server ALDH7A1_000104 2/12922 1/8538 1/4384
?/? c.193-20C>T r.(=) p.(=) g.125929116G>A Copied from the Exome Variant Server ALDH7A1_000103 1/13006 1/8600 0/4406
?/? c.193-15T>C r.(=) p.(=) g.125929111A>G Copied from the Exome Variant Server ALDH7A1_000102 1/13006 1/8600 0/4406
?/? c.203C>A r.(?) p.(Thr68Asn) g.125929086G>T Copied from the Exome Variant Server ALDH7A1_000101 6/13006 0/8600 6/4406
?/? c.243A>G r.(=) p.(=) g.125929046T>C Copied from the Exome Variant Server ALDH7A1_000100 14/13006 0/8600 14/4406
?/? c.246+44_246+48del r.(=) p.(=) g.125928995_125928999del Copied from the Exome Variant Server ALDH7A1_000099 26/12518 3/8254 23/4264
?/? c.247-47_247-45del r.(=) p.(=) g.125928466_125928468del Copied from the Exome Variant Server ALDH7A1_000098 5/12504 5/8252 0/4252
?/? c.262T>C r.(?) p.(Tyr88His) g.125928406A>G Copied from the Exome Variant Server ALDH7A1_000097 1/13006 1/8600 0/4406
?/? c.263A>T r.(?) p.(Tyr88Phe) g.125928405T>A Copied from the Exome Variant Server ALDH7A1_000096 1/13006 1/8600 0/4406
?/? c.273T>C r.(=) p.(=) g.125928395A>G Copied from the Exome Variant Server ALDH7A1_000095 871/13006 214/8600 657/4406
?/? c.312+5G>A r.spl? p.? g.125928351C>T Copied from the Exome Variant Server ALDH7A1_000094 1/13004 0/8598 1/4406
?/? c.312+21T>C r.(=) p.(=) g.125928335A>G Copied from the Exome Variant Server ALDH7A1_000093 5/13004 0/8598 5/4406
?/? c.312+30G>A r.(=) p.(=) g.125928326C>T Copied from the Exome Variant Server ALDH7A1_000092 3/13004 3/8598 0/4406
?/? c.354C>T r.(=) p.(=) g.125919663G>A Copied from the Exome Variant Server ALDH7A1_000091 1/13006 1/8600 0/4406
?/? c.362T>C r.(?) p.(Leu121Ser) g.125919655A>G Copied from the Exome Variant Server ALDH7A1_000090 1/13006 1/8600 0/4406
?/? c.364C>T r.(?) p.(Arg122Trp) g.125919653G>A Copied from the Exome Variant Server ALDH7A1_000089 1/13006 1/8600 0/4406
?/? c.373A>G r.(?) p.(Ile125Val) g.125919644T>C Copied from the Exome Variant Server ALDH7A1_000088 4/13006 3/8600 1/4406
?/? c.394-21C>T r.(=) p.(=) g.125918687G>A Copied from the Exome Variant Server ALDH7A1_000087 1/13006 1/8600 0/4406
?/? c.450T>C r.(=) p.(=) g.125918610A>G Copied from the Exome Variant Server ALDH7A1_000086 1/13000 1/8594 0/4406
?/? c.517+4A>C r.spl? p.? g.125918539T>G Copied from the Exome Variant Server ALDH7A1_000085 1/13006 1/8600 0/4406
?/? c.517+25G>A r.(=) p.(=) g.125918518C>T Copied from the Exome Variant Server ALDH7A1_000084 1/13004 1/8600 0/4404
?/? c.518-12T>G r.(=) p.(=) g.125912915A>C Copied from the Exome Variant Server ALDH7A1_000083 471/13006 182/8600 289/4406
?/? c.518-10_518-9del r.(=) p.(=) g.125912912_125912913del Copied from the Exome Variant Server ALDH7A1_000082 1/12518 0/8254 1/4264
?/? c.529G>C r.(?) p.(Ala177Pro) g.125912892C>G Copied from the Exome Variant Server ALDH7A1_000081 5/13006 0/8600 5/4406
?/? c.552C>T r.(=) p.(=) g.125912869G>A Copied from the Exome Variant Server ALDH7A1_000080 1/13006 1/8600 0/4406
?/? c.553G>A r.(?) p.(Val185Ile) g.125912868C>T Copied from the Exome Variant Server ALDH7A1_000079 2/13006 2/8600 0/4406
?/? c.575C>T r.(?) p.(Thr192Met) g.125912846G>A Copied from the Exome Variant Server ALDH7A1_000078 1/13006 0/8600 1/4406
?/? c.584A>G r.(?) p.(Asn195Ser) g.125912837T>C Copied from the Exome Variant Server ALDH7A1_000077 1/13006 1/8600 0/4406
?/? c.615C>T r.(=) p.(=) g.125912806G>A Copied from the Exome Variant Server ALDH7A1_000076 5/13006 4/8600 1/4406
?/? c.651-61del r.(=) p.(=) g.125911217del Copied from the Exome Variant Server ALDH7A1_000075 3/12498 0/8238 3/4260
?/? c.651-46G>A r.(=) p.(=) g.125911202C>T Copied from the Exome Variant Server ALDH7A1_000074 8/13006 7/8600 1/4406
?/? c.656G>C r.(?) p.(Gly219Ala) g.125911151C>G Copied from the Exome Variant Server ALDH7A1_000072 1/13006 1/8600 0/4406
?/? c.675C>T r.(=) p.(=) g.125911132G>A Copied from the Exome Variant Server ALDH7A1_000069 248/13006 5/8600 243/4406
?/? c.696-56T>C r.(=) p.(=) g.125906607A>G Copied from the Exome Variant Server ALDH7A1_000067 16/4566 14/3182 2/1384
?/? c.696-6T>G r.(=) p.(=) g.125906557A>C Copied from the Exome Variant Server ALDH7A1_000065 1/13006 0/8600 1/4406
?/? c.730C>A r.(?) p.(Pro244Thr) g.125906517G>T Copied from the Exome Variant Server ALDH7A1_000073 1/13006 1/8600 0/4406
?/? c.773+52A>C r.(=) p.(=) g.125906422T>G Copied from the Exome Variant Server ALDH7A1_000071 1/10300 1/7164 0/3136
?/? c.774-19C>T r.(=) p.(=) g.125904067G>A Copied from the Exome Variant Server ALDH7A1_000070 1/13006 0/8600 1/4406
?/? c.774-18G>A r.(=) p.(=) g.125904066C>T Copied from the Exome Variant Server ALDH7A1_000068 8/13006 7/8600 1/4406
?/? c.829C>G r.(?) p.(Gln277Glu) g.125903993G>C Copied from the Exome Variant Server ALDH7A1_000066 1/13006 1/8600 0/4406
?/? c.858G>A r.(=) p.(=) g.125903964C>T Copied from the Exome Variant Server ALDH7A1_000064 4/13006 0/8600 4/4406
?/? c.872-51G>A r.(=) p.(=) g.125896867C>T Copied from the Exome Variant Server ALDH7A1_000063 1/12682 1/8408 0/4274
?/? c.913+39G>T r.(=) p.(=) g.125896736C>A Copied from the Exome Variant Server ALDH7A1_000062 1/13006 1/8600 0/4406
?/? c.914-41C>T r.(=) p.(=) g.125895067G>A Copied from the Exome Variant Server ALDH7A1_000061 8/13006 8/8600 0/4406
?/? c.914-29G>T r.(=) p.(=) g.125895055C>A Copied from the Exome Variant Server ALDH7A1_000060 1/13006 1/8600 0/4406
?/? c.914C>G r.(?) p.(Ala305Gly) g.125895026G>C Copied from the Exome Variant Server ALDH7A1_000059 5/13006 0/8600 5/4406
?/? c.950C>T r.(?) p.(Ser317Leu) g.125894990G>A Copied from the Exome Variant Server ALDH7A1_000058 1/13006 0/8600 1/4406
?/? c.960C>T r.(=) p.(=) g.125894980G>A Copied from the Exome Variant Server ALDH7A1_000057 1/13006 0/8600 1/4406
?/? c.998C>T r.(?) p.(Ala333Val) g.125894942G>A Copied from the Exome Variant Server ALDH7A1_000056 2/13006 0/8600 2/4406
?/? c.1008+11C>T r.(=) p.(=) g.125894921G>A Copied from the Exome Variant Server ALDH7A1_000055 1/13006 1/8600 0/4406
?/? c.1008+46A>T r.(=) p.(=) g.125894886T>A Copied from the Exome Variant Server ALDH7A1_000054 1/13006 0/8600 1/4406
?/? c.1009-28A>G r.(=) p.(=) g.125891735T>C Copied from the Exome Variant Server ALDH7A1_000053 28/13006 7/8600 21/4406
?/? c.1009-6G>A r.(=) p.(=) g.125891713C>T Copied from the Exome Variant Server ALDH7A1_000052 76/13006 0/8600 76/4406
?/? c.1012A>G r.(?) p.(Ile338Val) g.125891704T>C Copied from the Exome Variant Server ALDH7A1_000051 1/13006 0/8600 1/4406
?/? c.1022G>A r.(?) p.(Ser341Asn) g.125891694C>T Copied from the Exome Variant Server ALDH7A1_000050 2/13006 1/8600 1/4406
?/? c.1066C>G r.(?) p.(Gln356Glu) g.125891650G>C Copied from the Exome Variant Server ALDH7A1_000049 2/13006 0/8600 2/4406
?/? c.1073G>T r.(?) p.(Arg358Leu) g.125891643C>A Copied from the Exome Variant Server ALDH7A1_000048 1/13006 0/8600 1/4406
?/? c.1093C>T r.(?) p.(Pro365Ser) g.125891623G>A Copied from the Exome Variant Server ALDH7A1_000047 1/13006 0/8600 1/4406
?/? c.1093+38T>A r.(=) p.(=) g.125891585A>T Copied from the Exome Variant Server ALDH7A1_000046 9/13006 0/8600 9/4406
?/? c.1094-49A>G r.(=) p.(=) g.125890134T>C Copied from the Exome Variant Server ALDH7A1_000045 1/13006 1/8600 0/4406
?/? c.1094-40A>T r.(=) p.(=) g.125890125T>A Copied from the Exome Variant Server ALDH7A1_000044 95/13006 87/8600 8/4406
?/? c.1094-20C>G r.(=) p.(=) g.125890105G>C Copied from the Exome Variant Server ALDH7A1_000043 95/13006 0/8600 95/4406
?/? c.1150G>A r.(?) p.(Ala384Thr) g.125890029C>T Copied from the Exome Variant Server ALDH7A1_000042 2/13006 0/8600 2/4406
?/? c.1183G>A r.(?) p.(Val395Met) g.125889996C>T Copied from the Exome Variant Server ALDH7A1_000041 1/13006 1/8600 0/4406
?/? c.1201-27T>C r.(=) p.(=) g.125887856A>G Copied from the Exome Variant Server ALDH7A1_000040 1952/13006 1585/8600 367/4406
?/? c.1234A>G r.(?) p.(Thr412Ala) g.125887796T>C Copied from the Exome Variant Server ALDH7A1_000039 5/13006 4/8600 1/4406
?/? c.1237A>G r.(?) p.(Ile413Val) g.125887793T>C Copied from the Exome Variant Server ALDH7A1_000038 1/13006 1/8600 0/4406
?/? c.1276A>G r.(?) p.(Thr426Ala) g.125887754T>C Copied from the Exome Variant Server ALDH7A1_000037 4/13006 0/8600 4/4406
?/? c.1279G>C r.(?) p.(Glu427Gln) g.125887751C>G Copied from the Exome Variant Server ALDH7A1_000036 7/13006 7/8600 0/4406
?/? c.1287T>C r.(=) p.(=) g.125887743A>G Copied from the Exome Variant Server ALDH7A1_000035 1/13006 1/8600 0/4406
?/? c.1292C>T r.(?) p.(Pro431Leu) g.125887738G>A Copied from the Exome Variant Server ALDH7A1_000034 1/13006 1/8600 0/4406
?/? c.1296T>G r.(?) p.(Ile432Met) g.125887734A>C Copied from the Exome Variant Server ALDH7A1_000033 1/13006 1/8600 0/4406
?/? c.1305C>G r.(=) p.(=) g.125887725G>C Copied from the Exome Variant Server ALDH7A1_000032 1/13006 1/8600 0/4406
?/? c.1315A>C r.(?) p.(Lys439Gln) g.125887715T>G Copied from the Exome Variant Server ALDH7A1_000031 959/13006 763/8600 196/4406
?/? c.1317+19C>T r.(=) p.(=) g.125887694G>A Copied from the Exome Variant Server ALDH7A1_000030 1/13006 0/8600 1/4406
?/? c.1317+20G>C r.(=) p.(=) g.125887693C>G Copied from the Exome Variant Server ALDH7A1_000029 3/13006 3/8600 0/4406
?/? c.1317+28G>A r.(=) p.(=) g.125887685C>T Copied from the Exome Variant Server ALDH7A1_000028 9333/13006 6312/8600 3021/4406
?/? c.1317+38T>C r.(=) p.(=) g.125887675A>G Copied from the Exome Variant Server ALDH7A1_000027 1/13006 0/8600 1/4406
?/? c.1318-36A>G r.(=) p.(=) g.125886021T>C Copied from the Exome Variant Server ALDH7A1_000026 1/13006 1/8600 0/4406
?/? c.1318-23G>A r.(=) p.(=) g.125886008C>T Copied from the Exome Variant Server ALDH7A1_000025 1/13006 1/8600 0/4406
?/? c.1318-19C>G r.(=) p.(=) g.125886004G>C Copied from the Exome Variant Server ALDH7A1_000023 1/13006 1/8600 0/4406
?/? c.1384A>G r.(?) p.(Lys462Glu) g.125885919T>C Copied from the Exome Variant Server ALDH7A1_000021 1/13006 1/8600 0/4406
?/? c.1406G>A r.(?) p.(Arg469His) g.125885897C>T Copied from the Exome Variant Server ALDH7A1_000019 3/13006 3/8600 0/4406
?/? c.1415+15A>G r.(=) p.(=) g.125885873T>C Copied from the Exome Variant Server ALDH7A1_000017 1/13006 1/8600 0/4406
?/? c.1415+29T>C r.(=) p.(=) g.125885859A>G Copied from the Exome Variant Server ALDH7A1_000015 1/13006 1/8600 0/4406
?/? c.1415+30del r.(=) p.(=) g.125885858del Copied from the Exome Variant Server ALDH7A1_000024 1/12518 1/8254 0/4264
?/? c.1415+33del r.(=) p.(=) g.125885855del Copied from the Exome Variant Server ALDH7A1_000022 1/12518 1/8254 0/4264
?/? c.1415+36C>G r.(=) p.(=) g.125885852G>C Copied from the Exome Variant Server ALDH7A1_000020 170/13006 0/8600 170/4406
?/? c.1415+48G>A r.(=) p.(=) g.125885840C>T Copied from the Exome Variant Server ALDH7A1_000018 2/13006 0/8600 2/4406
?/? c.1442T>C r.(?) p.(Val481Ala) g.125885668A>G Copied from the Exome Variant Server ALDH7A1_000016 1/13006 0/8600 1/4406
?/? c.1461A>G r.(=) p.(=) g.125885649T>C Copied from the Exome Variant Server ALDH7A1_000014 1/13006 1/8600 0/4406
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