All transcript variants in gene ABCD2

Information The variants shown are described using the NM_005164.3 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-49G>C r.(=) p.(=) g.40013466C>G Copied from the Exome Variant Server ABCD2_000079 2/12580 2/8288 0/4292
?/? c.26C>G r.(?) p.(Ala9Gly) g.40013392G>C Copied from the Exome Variant Server ABCD2_000078 192/13006 177/8600 15/4406
?/? c.126G>C r.(?) p.(Lys42Asn) g.40013292C>G Copied from the Exome Variant Server ABCD2_000077 3/13006 0/8600 3/4406
?/? c.140C>G r.(?) p.(Ser47Cys) g.40013278G>C Copied from the Exome Variant Server ABCD2_000076 1/13006 1/8600 0/4406
?/? c.188C>G r.(?) p.(Thr63Arg) g.40013230G>C Copied from the Exome Variant Server ABCD2_000075 90/13006 1/8600 89/4406
?/? c.207C>T r.(=) p.(=) g.40013211G>A Copied from the Exome Variant Server ABCD2_000074 2/13006 2/8600 0/4406
?/? c.241A>C r.(?) p.(Asn81His) g.40013177T>G Copied from the Exome Variant Server ABCD2_000073 1/13006 1/8600 0/4406
?/? c.265C>T r.(=) p.(=) g.40013153G>A Copied from the Exome Variant Server ABCD2_000072 63/13006 1/8600 62/4406
?/? c.268G>A r.(?) p.(Glu90Lys) g.40013150C>T Copied from the Exome Variant Server ABCD2_000071 1/13006 1/8600 0/4406
?/? c.292A>G r.(?) p.(Lys98Glu) g.40013126T>C Copied from the Exome Variant Server ABCD2_000070 1/13006 1/8600 0/4406
?/? c.334G>C r.(?) p.(Val112Leu) g.40013084C>G Copied from the Exome Variant Server ABCD2_000069 1/13006 1/8600 0/4406
?/? c.339T>C r.(=) p.(=) g.40013079A>G Copied from the Exome Variant Server ABCD2_000068 1/13006 1/8600 0/4406
?/? c.366C>G r.(?) p.(Ile122Met) g.40013052G>C Copied from the Exome Variant Server ABCD2_000067 1/13006 1/8600 0/4406
?/? c.376G>T r.(?) p.(Gly126Cys) g.40013042C>A Copied from the Exome Variant Server ABCD2_000065 3/13006 2/8600 1/4406
?/? c.454A>G r.(?) p.(Met152Val) g.40012964T>C Copied from the Exome Variant Server ABCD2_000063 1/13006 1/8600 0/4406
?/? c.546C>T r.(=) p.(=) g.40012872G>A Copied from the Exome Variant Server ABCD2_000061 15/13006 0/8600 15/4406
?/? c.557C>T r.(?) p.(Thr186Ile) g.40012861G>A Copied from the Exome Variant Server ABCD2_000059 6/13006 6/8600 0/4406
?/? c.565A>T r.(?) p.(Thr189Ser) g.40012853T>A Copied from the Exome Variant Server ABCD2_000057 1/13006 0/8600 1/4406
?/? c.611C>T r.(?) p.(Ala204Val) g.40012807G>A Copied from the Exome Variant Server ABCD2_000055 2/13006 0/8600 2/4406
?/? c.633G>A r.(=) p.(=) g.40012785C>T Copied from the Exome Variant Server ABCD2_000053 4/13006 0/8600 4/4406
?/? c.758C>A r.(?) p.(Pro253Gln) g.40012660G>T Copied from the Exome Variant Server ABCD2_000051 1/13006 0/8600 1/4406
?/? c.761T>C r.(?) p.(Ile254Thr) g.40012657A>G Copied from the Exome Variant Server ABCD2_000049 3/13006 3/8600 0/4406
?/? c.865A>T r.(?) p.(Lys289*) g.40012553T>A Copied from the Exome Variant Server ABCD2_000047 1/13006 1/8600 0/4406
?/? c.877C>T r.(?) p.(Arg293Trp) g.40012541G>A Copied from the Exome Variant Server ABCD2_000045 1/13006 1/8600 0/4406
?/? c.891G>A r.(=) p.(=) g.40012527C>T Copied from the Exome Variant Server ABCD2_000043 4/13006 2/8600 2/4406
?/? c.939+31T>A r.(=) p.(=) g.40012448A>T Copied from the Exome Variant Server ABCD2_000041 5/13004 0/8598 5/4406
?/? c.940-10C>A r.(=) p.(=) g.40010980G>T Copied from the Exome Variant Server ABCD2_000039 1/13004 1/8598 0/4406
?/? c.1042A>T r.(?) p.(Met348Leu) g.40010868T>A Copied from the Exome Variant Server ABCD2_000037 1/13006 1/8600 0/4406
?/? c.1047G>A r.(=) p.(=) g.40010863C>T Copied from the Exome Variant Server ABCD2_000035 472/13006 430/8600 42/4406
?/? c.1120+8C>T r.(=) p.(=) g.40010782G>A Copied from the Exome Variant Server ABCD2_000066 2/13006 0/8600 2/4406
?/? c.1120+18T>C r.(=) p.(=) g.40010772A>G Copied from the Exome Variant Server ABCD2_000064 2/13006 0/8600 2/4406
?/? c.1120+34T>G r.(=) p.(=) g.40010756A>C Copied from the Exome Variant Server ABCD2_000062 1/13006 0/8600 1/4406
?/? c.1121-40A>C r.(=) p.(=) g.40001556T>G Copied from the Exome Variant Server ABCD2_000060 2/12694 0/8478 2/4216
?/? c.1121-3T>G r.spl? p.? g.40001519A>C Copied from the Exome Variant Server ABCD2_000058 1/13006 0/8600 1/4406
?/? c.1121-2A>C r.spl? p.? g.40001518T>G Copied from the Exome Variant Server ABCD2_000056 1/13006 1/8600 0/4406
?/? c.1142T>C r.(?) p.(Met381Thr) g.40001495A>G Copied from the Exome Variant Server ABCD2_000054 1/13006 1/8600 0/4406
?/? c.1154G>A r.(?) p.(Arg385Gln) g.40001483C>T Copied from the Exome Variant Server ABCD2_000052 1/13006 0/8600 1/4406
?/? c.1173T>C r.(=) p.(=) g.40001464A>G Copied from the Exome Variant Server ABCD2_000050 2/13006 0/8600 2/4406
?/? c.1237-45T>C r.(=) p.(=) g.39998777A>G Copied from the Exome Variant Server ABCD2_000048 1/12954 1/8574 0/4380
?/? c.1237-36T>C r.(=) p.(=) g.39998768A>G Copied from the Exome Variant Server ABCD2_000046 1/12980 0/8588 1/4392
?/? c.1237-21A>G r.(=) p.(=) g.39998753T>C Copied from the Exome Variant Server ABCD2_000044 1/12998 0/8596 1/4402
?/? c.1314T>C r.(=) p.(=) g.39998655A>G Copied from the Exome Variant Server ABCD2_000042 1/13006 1/8600 0/4406
?/? c.1336G>T r.(?) p.(Glu446*) g.39998633C>A Copied from the Exome Variant Server ABCD2_000040 1/13006 0/8600 1/4406
?/? c.1371A>T r.(=) p.(=) g.39998598T>A Copied from the Exome Variant Server ABCD2_000038 1/13006 0/8600 1/4406
?/? c.1391C>T r.(?) p.(Thr464Ile) g.39998578G>A Copied from the Exome Variant Server ABCD2_000036 1/13006 0/8600 1/4406
?/? c.1405+37del r.(=) p.(=) g.39998527del Copied from the Exome Variant Server ABCD2_000034 6/12494 0/8240 6/4254
?/? c.1406-59_1406-55del r.(=) p.(=) g.39997863_39997867del Copied from the Exome Variant Server ABCD2_000033 15/12492 0/8242 15/4250
?/? c.1406-43A>G r.(=) p.(=) g.39997851T>C Copied from the Exome Variant Server ABCD2_000032 1/13004 1/8598 0/4406
?/? c.1460C>T r.(?) p.(Thr487Ile) g.39997754G>A Copied from the Exome Variant Server ABCD2_000031 1/13006 1/8600 0/4406
?/? c.1500+11A>G r.(=) p.(=) g.39997703T>C Copied from the Exome Variant Server ABCD2_000030 1/13006 0/8600 1/4406
?/? c.1500+47A>G r.(=) p.(=) g.39997667T>C Copied from the Exome Variant Server ABCD2_000029 1/13006 1/8600 0/4406
?/? c.1500+48C>T r.(=) p.(=) g.39997666G>A Copied from the Exome Variant Server ABCD2_000028 2/13006 2/8600 0/4406
?/? c.1501-8T>C r.(=) p.(=) g.39994526A>G Copied from the Exome Variant Server ABCD2_000027 1/13004 1/8598 0/4406
?/? c.1524G>A r.(=) p.(=) g.39994495C>T Copied from the Exome Variant Server ABCD2_000025 5/13006 0/8600 5/4406
?/? c.1646+11C>A r.(=) p.(=) g.39994362G>T Copied from the Exome Variant Server ABCD2_000026 1/13004 0/8598 1/4406
?/? c.1647-41T>C r.(=) p.(=) g.39980140A>G Copied from the Exome Variant Server ABCD2_000024 1/13004 1/8598 0/4406
?/? c.1647-28G>A r.(=) p.(=) g.39980127C>T Copied from the Exome Variant Server ABCD2_000023 1/13006 0/8600 1/4406
?/? c.1683C>A r.(=) p.(=) g.39980063G>T Copied from the Exome Variant Server ABCD2_000022 35/13006 1/8600 34/4406
?/? c.1745G>A r.(?) p.(Arg582His) g.39980001C>T Copied from the Exome Variant Server ABCD2_000021 12/13006 0/8600 12/4406
?/? c.1775T>A r.(?) p.(Ile592Lys) g.39979971A>T Copied from the Exome Variant Server ABCD2_000020 2/13006 2/8600 0/4406
?/? c.1792+16C>A r.(=) p.(=) g.39979938G>T Copied from the Exome Variant Server ABCD2_000019 1/13004 0/8598 1/4406
?/? c.1792+43T>A r.(=) p.(=) g.39979911A>T Copied from the Exome Variant Server ABCD2_000018 121/13004 110/8598 11/4406
?/? c.1793-39A>C r.(=) p.(=) g.39973460T>G Copied from the Exome Variant Server ABCD2_000017 2/12984 0/8592 2/4392
?/? c.1793-30T>C r.(=) p.(=) g.39973451A>G Copied from the Exome Variant Server ABCD2_000016 2/12998 2/8596 0/4402
?/? c.1793-17T>A r.(=) p.(=) g.39973438A>T Copied from the Exome Variant Server ABCD2_000015 250/13006 4/8600 246/4406
?/? c.1819G>A r.(?) p.(Asp607Asn) g.39973395C>T Copied from the Exome Variant Server ABCD2_000014 19/13006 15/8600 4/4406
?/? c.1856T>C r.(?) p.(Met619Thr) g.39973358A>G Copied from the Exome Variant Server ABCD2_000013 1/13006 0/8600 1/4406
?/? c.1877+23A>G r.(=) p.(=) g.39973314T>C Copied from the Exome Variant Server ABCD2_000012 1/13006 0/8600 1/4406
?/? c.1877+33C>T r.(=) p.(=) g.39973304G>A Copied from the Exome Variant Server ABCD2_000011 1/13006 0/8600 1/4406
?/? c.1878-37A>G r.(=) p.(=) g.39967680T>C Copied from the Exome Variant Server ABCD2_000010 25/12996 1/8590 24/4406
?/? c.1878-24A>C r.(=) p.(=) g.39967667T>G Copied from the Exome Variant Server ABCD2_000009 35/13000 0/8594 35/4406
?/? c.1878-18G>C r.(=) p.(=) g.39967661C>G Copied from the Exome Variant Server ABCD2_000008 84/13004 80/8598 4/4406
?/? c.1929C>T r.(=) p.(=) g.39967592G>A Copied from the Exome Variant Server ABCD2_000007 1/13006 0/8600 1/4406
?/? c.2003+39T>C r.(=) p.(=) g.39967479A>G Copied from the Exome Variant Server ABCD2_000006 8/13006 1/8600 7/4406
?/? c.2052C>T r.(=) p.(=) g.39947885G>A Copied from the Exome Variant Server ABCD2_000005 72/13006 0/8600 72/4406
?/? c.2078G>A r.(?) p.(Arg693His) g.39947859C>T Copied from the Exome Variant Server ABCD2_000004 3/13006 2/8600 1/4406
?/? c.2184A>C r.(=) p.(=) g.39947753T>G Copied from the Exome Variant Server ABCD2_000003 1/13004 1/8600 0/4404
?/? c.2199T>C r.(=) p.(=) g.39947738A>G Copied from the Exome Variant Server ABCD2_000002 1/13002 0/8598 1/4404
?/? c.*20A>C r.(=) p.(=) g.39947694T>G Copied from the Exome Variant Server ABCD2_000001 46/12954 0/8562 46/4392
Legend