All transcript variants in gene AADACL4

Information The variants shown are described using the NM_001013630.1 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.21G>A r.(=) p.(=) g.12704586G>A Copied from the Exome Variant Server AADACL4_000001 81/13006 76/8600 5/4406
?/? c.92C>T r.(?) p.(Thr31Met) g.12704657C>T Copied from the Exome Variant Server AADACL4_000002 2/13006 1/8600 1/4406
?/? c.93G>A r.(=) p.(=) g.12704658G>A Copied from the Exome Variant Server AADACL4_000003 1/13006 0/8600 1/4406
?/? c.168+24C>T r.(=) p.(=) g.12704757C>T Copied from the Exome Variant Server AADACL4_000004 12/13006 11/8600 1/4406
?/? c.168+34G>A r.(=) p.(=) g.12704767G>A Copied from the Exome Variant Server AADACL4_000005 2/13006 0/8600 2/4406
?/? c.169-30C>T r.(=) p.(=) g.12711112C>T Copied from the Exome Variant Server AADACL4_000006 1/13006 0/8600 1/4406
?/? c.169-29G>A r.(=) p.(=) g.12711113G>A Copied from the Exome Variant Server AADACL4_000007 3/13006 3/8600 0/4406
?/? c.169-24G>T r.(=) p.(=) g.12711118G>T Copied from the Exome Variant Server AADACL4_000008 1/13006 0/8600 1/4406
?/? c.202A>T r.(?) p.(Met68Leu) g.12711175A>T Copied from the Exome Variant Server AADACL4_000009 1/13006 1/8600 0/4406
?/? c.217C>T r.(?) p.(Arg73Cys) g.12711190C>T Copied from the Exome Variant Server AADACL4_000010 1/13006 1/8600 0/4406
?/? c.232A>T r.(?) p.(Ser78Cys) g.12711205A>T Copied from the Exome Variant Server AADACL4_000011 2/13006 2/8600 0/4406
?/? c.235G>A r.(?) p.(Val79Met) g.12711208G>A Copied from the Exome Variant Server AADACL4_000012 2/13006 1/8600 1/4406
?/? c.270C>T r.(=) p.(=) g.12711243C>T Copied from the Exome Variant Server AADACL4_000013 1/13006 0/8600 1/4406
?/? c.276G>A r.(=) p.(=) g.12711249G>A Copied from the Exome Variant Server AADACL4_000014 1/13006 0/8600 1/4406
?/? c.278G>A r.(?) p.(Arg93His) g.12711251G>A Copied from the Exome Variant Server AADACL4_000015 1/13006 0/8600 1/4406
?/? c.287C>T r.(?) p.(Thr96Met) g.12711260C>T Copied from the Exome Variant Server AADACL4_000016 1/13006 1/8600 0/4406
?/? c.294C>T r.(=) p.(=) g.12711267C>T Copied from the Exome Variant Server AADACL4_000017 57/13006 1/8600 56/4406
?/? c.324C>T r.(=) p.(=) g.12711297C>T Copied from the Exome Variant Server AADACL4_000018 1/13006 1/8600 0/4406
?/? c.335G>A r.(?) p.(Arg112Gln) g.12711308G>A Copied from the Exome Variant Server AADACL4_000019 2/13006 0/8600 2/4406
?/? c.370G>C r.(?) p.(Val124Leu) g.12711343G>C Copied from the Exome Variant Server AADACL4_000020 2/13006 2/8600 0/4406
?/? c.380G>A r.(?) p.(Ser127Asn) g.12711353G>A Copied from the Exome Variant Server AADACL4_000021 1/13006 0/8600 1/4406
?/? c.385+8G>T r.(=) p.(=) g.12711366G>T Copied from the Exome Variant Server AADACL4_000022 1/13006 1/8600 0/4406
?/? c.385+13C>T r.(=) p.(=) g.12711371C>T Copied from the Exome Variant Server AADACL4_000023 1/13006 0/8600 1/4406
?/? c.385+39C>T r.(=) p.(=) g.12711397C>T Copied from the Exome Variant Server AADACL4_000024 11/13006 11/8600 0/4406
?/? c.405C>G r.(?) p.(Cys135Trp) g.12721821C>G Copied from the Exome Variant Server AADACL4_000025 1/13006 1/8600 0/4406
?/? c.449+39G>A r.(=) p.(=) g.12721904G>A Copied from the Exome Variant Server AADACL4_000026 3/13006 3/8600 0/4406
?/? c.450-29T>C r.(=) p.(=) g.12725943T>C Copied from the Exome Variant Server AADACL4_000027 2610/13006 670/8600 1940/4406
?/? c.454C>T r.(?) p.(Arg152Cys) g.12725976C>T Copied from the Exome Variant Server AADACL4_000028 11/13006 0/8600 11/4406
?/? c.511A>G r.(?) p.(Ile171Val) g.12726033A>G Copied from the Exome Variant Server AADACL4_000029 1/13006 0/8600 1/4406
?/? c.514C>G r.(?) p.(His172Asp) g.12726036C>G Copied from the Exome Variant Server AADACL4_000030 33/13006 32/8600 1/4406
?/? c.527C>A r.(?) p.(Ala176Asp) g.12726049C>A Copied from the Exome Variant Server AADACL4_000031 8/13006 0/8600 8/4406
?/? c.593C>T r.(?) p.(Ala198Val) g.12726115C>T Copied from the Exome Variant Server AADACL4_000032 3/13006 1/8600 2/4406
?/? c.594G>A r.(=) p.(=) g.12726116G>A Copied from the Exome Variant Server AADACL4_000033 4/13006 1/8600 3/4406
?/? c.600C>T r.(=) p.(=) g.12726122C>T Copied from the Exome Variant Server AADACL4_000034 4/13006 4/8600 0/4406
?/? c.601G>A r.(?) p.(Ala201Thr) g.12726123G>A Copied from the Exome Variant Server AADACL4_000035 3/13006 2/8600 1/4406
?/? c.640C>T r.(?) p.(Arg214Trp) g.12726162C>T Copied from the Exome Variant Server AADACL4_000036 1/13006 1/8600 0/4406
?/? c.647G>A r.(?) p.(Arg216Gln) g.12726169G>A Copied from the Exome Variant Server AADACL4_000037 62/13006 54/8600 8/4406
?/? c.652C>T r.(?) p.(Gln218*) g.12726174C>T Copied from the Exome Variant Server AADACL4_000038 1/13006 1/8600 0/4406
?/? c.663T>C r.(=) p.(=) g.12726185T>C Copied from the Exome Variant Server AADACL4_000039 1/13006 1/8600 0/4406
?/? c.689T>C r.(?) p.(Leu230Ser) g.12726211T>C Copied from the Exome Variant Server AADACL4_000040 1/13006 0/8600 1/4406
?/? c.690G>A r.(=) p.(=) g.12726212G>A Copied from the Exome Variant Server AADACL4_000041 1/13006 1/8600 0/4406
?/? c.714C>A r.(?) p.(Asn238Lys) g.12726236C>A Copied from the Exome Variant Server AADACL4_000042 2/13006 2/8600 0/4406
?/? c.739A>G r.(?) p.(Lys247Glu) g.12726261A>G Copied from the Exome Variant Server AADACL4_000043 1/13006 0/8600 1/4406
?/? c.748G>A r.(?) p.(Val250Met) g.12726270G>A Copied from the Exome Variant Server AADACL4_000044 1/13006 1/8600 0/4406
?/? c.771G>A r.(=) p.(=) g.12726293G>A Copied from the Exome Variant Server AADACL4_000045 1/13006 0/8600 1/4406
?/? c.791G>A r.(?) p.(Arg264His) g.12726313G>A Copied from the Exome Variant Server AADACL4_000046 1/13006 1/8600 0/4406
?/? c.795C>T r.(=) p.(=) g.12726317C>T Copied from the Exome Variant Server AADACL4_000047 550/13006 11/8600 539/4406
?/? c.796G>A r.(?) p.(Ala266Thr) g.12726318G>A Copied from the Exome Variant Server AADACL4_000048 1/13006 1/8600 0/4406
?/? c.807C>T r.(=) p.(=) g.12726329C>T Copied from the Exome Variant Server AADACL4_000049 3/13006 0/8600 3/4406
?/? c.829G>A r.(?) p.(Val277Ile) g.12726351G>A Copied from the Exome Variant Server AADACL4_000050 2/13006 2/8600 0/4406
?/? c.844G>A r.(?) p.(Glu282Lys) g.12726366G>A Copied from the Exome Variant Server AADACL4_000051 1/13006 1/8600 0/4406
?/? c.897C>T r.(=) p.(=) g.12726419C>T Copied from the Exome Variant Server AADACL4_000052 1/13006 1/8600 0/4406
?/? c.912C>T r.(=) p.(=) g.12726434C>T Copied from the Exome Variant Server AADACL4_000053 1/13006 0/8600 1/4406
?/? c.913G>A r.(?) p.(Gly305Ser) g.12726435G>A Copied from the Exome Variant Server AADACL4_000054 1/13006 0/8600 1/4406
?/? c.973C>T r.(?) p.(Pro325Ser) g.12726495C>T Copied from the Exome Variant Server AADACL4_000055 1/13006 1/8600 0/4406
?/? c.980T>G r.(?) p.(Ile327Arg) g.12726502T>G Copied from the Exome Variant Server AADACL4_000056 1/13006 0/8600 1/4406
?/? c.988G>A r.(?) p.(Asp330Asn) g.12726510G>A Copied from the Exome Variant Server AADACL4_000057 1/13006 0/8600 1/4406
?/? c.999C>T r.(=) p.(=) g.12726521C>T Copied from the Exome Variant Server AADACL4_000058 1/13006 1/8600 0/4406
?/? c.1035G>A r.(=) p.(=) g.12726557G>A Copied from the Exome Variant Server AADACL4_000059 4/13006 0/8600 4/4406
?/? c.1038T>A r.(?) p.(Asn346Lys) g.12726560T>A Copied from the Exome Variant Server AADACL4_000060 1/13006 0/8600 1/4406
?/? c.1075C>A r.(?) p.(Arg359Ser) g.12726597C>A Copied from the Exome Variant Server AADACL4_000061 1/13006 1/8600 0/4406
?/? c.1076G>A r.(?) p.(Arg359His) g.12726598G>A Copied from the Exome Variant Server AADACL4_000062 1/13006 0/8600 1/4406
?/? c.1096C>T r.(?) p.(Arg366Cys) g.12726618C>T Copied from the Exome Variant Server AADACL4_000063 2/13006 2/8600 0/4406
?/? c.1097G>A r.(?) p.(Arg366His) g.12726619G>A Copied from the Exome Variant Server AADACL4_000064 1/13006 0/8600 1/4406
?/? c.1098C>T r.(=) p.(=) g.12726620C>T Copied from the Exome Variant Server AADACL4_000065 1/13006 1/8600 0/4406
?/? c.1099G>A r.(?) p.(Val367Met) g.12726621G>A Copied from the Exome Variant Server AADACL4_000066 1/13006 0/8600 1/4406
?/? c.1114C>T r.(=) p.(=) g.12726636C>T Copied from the Exome Variant Server AADACL4_000067 404/13006 1/8600 403/4406
?/? c.1131C>T r.(=) p.(=) g.12726653C>T Copied from the Exome Variant Server AADACL4_000068 1/13006 1/8600 0/4406
?/? c.1162C>G r.(?) p.(Leu388Val) g.12726684C>G Copied from the Exome Variant Server AADACL4_000069 1/13006 1/8600 0/4406
?/? c.*32C>T r.(=) p.(=) g.12726778C>T Copied from the Exome Variant Server AADACL4_000070 1/12330 1/8348 0/3982
?/? c.*33A>G r.(=) p.(=) g.12726779A>G Copied from the Exome Variant Server AADACL4_000071 5/12320 0/8344 5/3976
?/? c.*35G>A r.(=) p.(=) g.12726781G>A Copied from the Exome Variant Server AADACL4_000072 1/12316 0/8342 1/3974
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