All transcript variants in gene AADACL2

Information The variants shown are described using the NM_207365.3 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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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>C r.(=) p.(=) g.151451803G>C Copied from the Exome Variant Server AADACL2_000001 1/4566 1/3182 0/1384
?/? c.-2T>C r.(=) p.(=) g.151451822T>C Copied from the Exome Variant Server AADACL2_000002 1/4566 0/3182 1/1384
?/? c.41T>C r.(?) p.(Leu14Pro) g.151451864T>C Copied from the Exome Variant Server AADACL2_000003 1/13006 1/8600 0/4406
?/? c.117C>T r.(=) p.(=) g.151451940C>T Copied from the Exome Variant Server AADACL2_000004 1/13006 1/8600 0/4406
?/? c.138+9A>C r.(=) p.(=) g.151451970A>C Copied from the Exome Variant Server AADACL2_000005 1/13006 0/8600 1/4406
?/? c.139-23T>C r.(=) p.(=) g.151458411T>C Copied from the Exome Variant Server AADACL2_000006 31/12918 1/8576 30/4342
?/? c.141_144del r.(?) p.(Met48Valfs*8) g.151458436_151458439del Copied from the Exome Variant Server AADACL2_000007 1/12520 1/8254 0/4266
?/? c.161G>A r.(?) p.(Arg54His) g.151458456G>A Copied from the Exome Variant Server AADACL2_000008 64/13006 0/8600 64/4406
?/? c.192G>C r.(?) p.(Met64Ile) g.151458487G>C Copied from the Exome Variant Server AADACL2_000009 1/13006 1/8600 0/4406
?/? c.213C>A r.(=) p.(=) g.151458508C>A Copied from the Exome Variant Server AADACL2_000010 1/13006 1/8600 0/4406
?/? c.265A>G r.(?) p.(Ile89Val) g.151458560A>G Copied from the Exome Variant Server AADACL2_000011 9/13006 9/8600 0/4406
?/? c.274C>T r.(?) p.(Arg92*) g.151458569C>T Copied from the Exome Variant Server AADACL2_000012 1/13006 0/8600 1/4406
?/? c.275G>A r.(?) p.(Arg92Gln) g.151458570G>A Copied from the Exome Variant Server AADACL2_000013 1/13006 0/8600 1/4406
?/? c.294A>G r.(=) p.(=) g.151458589A>G Copied from the Exome Variant Server AADACL2_000014 1/13006 1/8600 0/4406
?/? c.298T>C r.(?) p.(Ser100Pro) g.151458593T>C Copied from the Exome Variant Server AADACL2_000015 2/13006 1/8600 1/4406
?/? c.308G>A r.(?) p.(Arg103Gln) g.151458603G>A Copied from the Exome Variant Server AADACL2_000016 1/13006 0/8600 1/4406
?/? c.321G>C r.(=) p.(=) g.151458616G>C Copied from the Exome Variant Server AADACL2_000017 1/13006 1/8600 0/4406
?/? c.326A>G r.(?) p.(Tyr109Cys) g.151458621A>G Copied from the Exome Variant Server AADACL2_000018 5/13006 5/8600 0/4406
?/? c.331C>G r.(?) p.(His111Asp) g.151458626C>G Copied from the Exome Variant Server AADACL2_000019 4/13006 4/8600 0/4406
?/? c.361+26T>A r.(=) p.(=) g.151458682T>A Copied from the Exome Variant Server AADACL2_000020 1/13006 1/8600 0/4406
?/? c.395C>T r.(?) p.(Thr132Met) g.151461914C>T Copied from the Exome Variant Server AADACL2_000021 1/13006 0/8600 1/4406
?/? c.396G>A r.(=) p.(=) g.151461915G>A Copied from the Exome Variant Server AADACL2_000022 2/13006 2/8600 0/4406
?/? c.431+12T>A r.(=) p.(=) g.151461962T>A Copied from the Exome Variant Server AADACL2_000023 34/13006 1/8600 33/4406
?/? c.431+22C>T r.(=) p.(=) g.151461972C>T Copied from the Exome Variant Server AADACL2_000024 1/13006 0/8600 1/4406
?/? c.431+31del r.(=) p.(=) g.151461981del Copied from the Exome Variant Server AADACL2_000025 1/12520 1/8254 0/4266
?/? c.432-18del r.(=) p.(=) g.151463279del Copied from the Exome Variant Server AADACL2_000026 1/12518 0/8252 1/4266
?/? c.459T>C r.(=) p.(=) g.151463324T>C Copied from the Exome Variant Server AADACL2_000027 1/13004 0/8598 1/4406
?/? c.464C>G r.(?) p.(Ala155Gly) g.151463329C>G Copied from the Exome Variant Server AADACL2_000028 1/13004 0/8598 1/4406
?/? c.544C>A r.(=) p.(=) g.151463409C>A Copied from the Exome Variant Server AADACL2_000029 1/13004 0/8598 1/4406
?/? c.556G>T r.(?) p.(Ala186Ser) g.151463421G>T Copied from the Exome Variant Server AADACL2_000030 9079/13004 5545/8598 3534/4406
?/? c.557C>T r.(?) p.(Ala186Val) g.151463422C>T Copied from the Exome Variant Server AADACL2_000031 1/13004 1/8598 0/4406
?/? c.571G>C r.(?) p.(Gly191Arg) g.151463436G>C Copied from the Exome Variant Server AADACL2_000032 1/13004 1/8598 0/4406
?/? c.575G>A r.(?) p.(Gly192Asp) g.151463440G>A Copied from the Exome Variant Server AADACL2_000033 1/13004 1/8598 0/4406
?/? c.603+21T>C r.(=) p.(=) g.151463489T>C Copied from the Exome Variant Server AADACL2_000034 1/12998 1/8596 0/4402
?/? c.603+25A>G r.(=) p.(=) g.151463493A>G Copied from the Exome Variant Server AADACL2_000035 1271/12996 662/8596 609/4400
?/? c.603+30G>A r.(=) p.(=) g.151463498G>A Copied from the Exome Variant Server AADACL2_000036 1/12992 1/8594 0/4398
?/? c.603+47del r.(=) p.(=) g.151463515del Copied from the Exome Variant Server AADACL2_000038 38/12444 11/8234 27/4210
?/? c.603+47dup r.(=) p.(=) g.151463515dup Copied from the Exome Variant Server AADACL2_000037 18/12444 12/8234 6/4210
?/? c.604-51C>G r.(=) p.(=) g.151474729C>G Copied from the Exome Variant Server AADACL2_000039 1/12924 1/8560 0/4364
?/? c.604-12A>G r.(=) p.(=) g.151474768A>G Copied from the Exome Variant Server AADACL2_000040 23/13000 23/8596 0/4404
?/? c.674C>T r.(?) p.(Thr225Ile) g.151474850C>T Copied from the Exome Variant Server AADACL2_000041 1/13004 1/8598 0/4406
?/? c.682T>G r.(?) p.(Tyr228Asp) g.151474858T>G Copied from the Exome Variant Server AADACL2_000042 2/13004 0/8598 2/4406
?/? c.684T>C r.(=) p.(=) g.151474860T>C Copied from the Exome Variant Server AADACL2_000043 1/13004 0/8598 1/4406
?/? c.693T>G r.(=) p.(=) g.151474869T>G Copied from the Exome Variant Server AADACL2_000046 1/13004 1/8598 0/4406
?/? c.697C>T r.(?) p.(Arg233*) g.151474873C>T Copied from the Exome Variant Server AADACL2_000047 1/13004 1/8598 0/4406
?/? c.715A>G r.(?) p.(Ile239Val) g.151474891A>G Copied from the Exome Variant Server AADACL2_000049 1/13004 1/8598 0/4406
?/? c.748G>A r.(?) p.(Val250Met) g.151474924G>A Copied from the Exome Variant Server AADACL2_000052 2/13002 2/8596 0/4406
?/? c.763A>C r.(?) p.(Thr255Pro) g.151474939A>C Copied from the Exome Variant Server AADACL2_000053 1/13000 1/8594 0/4406
?/? c.769G>T r.(?) p.(Asp257Tyr) g.151474945G>T Copied from the Exome Variant Server AADACL2_000055 2/13002 0/8596 2/4406
?/? c.778C>T r.(?) p.(Leu260Phe) g.151474954C>T Copied from the Exome Variant Server AADACL2_000057 9/13002 9/8596 0/4406
?/? c.804A>G r.(=) p.(=) g.151474980A>G Copied from the Exome Variant Server AADACL2_000044 1/13002 0/8596 1/4406
?/? c.805C>T r.(?) p.(His269Tyr) g.151474981C>T Copied from the Exome Variant Server AADACL2_000045 1/13002 1/8596 0/4406
?/? c.889T>G r.(?) p.(Tyr297Asp) g.151475065T>G Copied from the Exome Variant Server AADACL2_000048 1/13002 1/8596 0/4406
?/? c.926T>C r.(?) p.(Leu309Ser) g.151475102T>C Copied from the Exome Variant Server AADACL2_000050 1/13002 1/8596 0/4406
?/? c.1013G>C r.(?) p.(Cys338Ser) g.151475189G>C Copied from the Exome Variant Server AADACL2_000051 1/13004 1/8598 0/4406
?/? c.1048T>C r.(?) p.(Tyr350His) g.151475224T>C Copied from the Exome Variant Server AADACL2_000054 1/13004 1/8598 0/4406
?/? c.1067A>G r.(?) p.(Asn356Ser) g.151475243A>G Copied from the Exome Variant Server AADACL2_000056 1/13004 0/8598 1/4406
?/? c.1135T>A r.(?) p.(Ser379Thr) g.151475311T>A Copied from the Exome Variant Server AADACL2_000058 2/13004 2/8598 0/4406
?/? c.1149A>G r.(=) p.(=) g.151475325A>G Copied from the Exome Variant Server AADACL2_000059 1/13002 0/8596 1/4406
?/? c.1150C>T r.(?) p.(Arg384Cys) g.151475326C>T Copied from the Exome Variant Server AADACL2_000060 1/13002 1/8596 0/4406
?/? c.1151G>A r.(?) p.(Arg384His) g.151475327G>A Copied from the Exome Variant Server AADACL2_000061 1/13002 1/8596 0/4406
?/? c.*5G>A r.(=) p.(=) g.151475387G>A Copied from the Exome Variant Server AADACL2_000062 2/12996 0/8592 2/4404
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