All transcript variants in gene ABCD1

Information The variants shown are described using the NM_000033.3 transcript reference sequence.

87 entries on 1 page. Showing entries 1 - 87.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.38A>C r.(?) p.(Asn13Thr) g.152990759A>C Copied from the Exome Variant Server ABCD1_000046 3/8922 3/5651 0/3271
?/? c.100C>T r.(?) p.(Pro34Ser) g.152990821C>T Copied from the Exome Variant Server ABCD1_000047 1/9116 1/5808 0/3308
?/? c.108G>A r.(=) p.(=) g.152990829G>A Copied from the Exome Variant Server ABCD1_000048 2/9002 2/5749 0/3253
?/? c.258C>T r.(=) p.(=) g.152990979C>T Copied from the Exome Variant Server ABCD1_000049 9/10222 8/6530 1/3692
?/? c.319C>A r.(?) p.(Leu107Met) g.152991040C>A Copied from the Exome Variant Server ABCD1_000050 1/10523 0/6716 1/3807
?/? c.321G>A r.(=) p.(=) g.152991042G>A Copied from the Exome Variant Server ABCD1_000051 2/10526 0/6716 2/3810
?/? c.392G>T r.(?) p.(Gly131Val) g.152991113G>T Copied from the Exome Variant Server ABCD1_000052 1/10534 1/6710 0/3824
?/? c.420C>A r.(=) p.(=) g.152991141C>A Copied from the Exome Variant Server ABCD1_000053 2/10549 2/6725 0/3824
?/? c.471A>G r.(=) p.(=) g.152991192A>G Copied from the Exome Variant Server ABCD1_000054 60/10561 0/6728 60/3833
?/? c.472C>G r.(?) p.(Leu158Val) g.152991193C>G Copied from the Exome Variant Server ABCD1_000055 1/10561 0/6728 1/3833
?/? c.483G>T r.(=) p.(=) g.152991204G>T Copied from the Exome Variant Server ABCD1_000056 1/10561 0/6728 1/3833
?/? c.601G>A r.(?) p.(Val201Met) g.152991322G>A Copied from the Exome Variant Server ABCD1_000057 7/10563 1/6728 6/3835
?/? c.633C>A r.(=) p.(=) g.152991354C>A Copied from the Exome Variant Server ABCD1_000058 1/10563 0/6728 1/3835
?/? c.696G>T r.(=) p.(=) g.152991417G>T Copied from the Exome Variant Server ABCD1_000059 49/10562 4/6727 45/3835
?/? c.707G>A r.(?) p.(Arg236His) g.152991428G>A Copied from the Exome Variant Server ABCD1_000060 9/10557 8/6724 1/3833
?/? c.742G>A r.(?) p.(Gly248Ser) g.152991463G>A Copied from the Exome Variant Server ABCD1_000061 1/10542 1/6719 0/3823
?/? c.757C>G r.(?) p.(Leu253Val) g.152991478C>G Copied from the Exome Variant Server ABCD1_000062 11/10541 10/6718 1/3823
?/? c.895C>T r.(?) p.(His299Tyr) g.152991616C>T Copied from the Exome Variant Server ABCD1_000063 4/10100 0/6469 4/3631
?/? c.901-47C>T r.(=) p.(=) g.152994640C>T Copied from the Exome Variant Server ABCD1_000064 1/10562 0/6727 1/3835
?/? c.901-22C>T r.(=) p.(=) g.152994665C>T Copied from the Exome Variant Server ABCD1_000065 1/10563 1/6728 0/3835
?/? c.901-16C>T r.(=) p.(=) g.152994671C>T Copied from the Exome Variant Server ABCD1_000066 105/10563 96/6728 9/3835
?/? c.901-10C>T r.(=) p.(=) g.152994677C>T Copied from the Exome Variant Server ABCD1_000001 57/10563 0/6728 57/3835
?/? c.945G>A r.(=) p.(=) g.152994731G>A Copied from the Exome Variant Server ABCD1_000002 3/10563 0/6728 3/3835
?/? c.971G>A r.(?) p.(Arg324His) g.152994757G>A Copied from the Exome Variant Server ABCD1_000003 1/10563 0/6728 1/3835
?/? c.1047C>A r.(=) p.(=) g.152994833C>A Copied from the Exome Variant Server ABCD1_000004 2/10563 1/6728 1/3835
?/? c.1081+21A>T r.(=) p.(=) g.152994888A>T Copied from the Exome Variant Server ABCD1_000005 1/10563 1/6728 0/3835
?/? c.1081+52C>T r.(=) p.(=) g.152994919C>T Copied from the Exome Variant Server ABCD1_000006 1/6037 0/3620 1/2417
?/? c.1082-31del r.(=) p.(=) g.153001535del Copied from the Exome Variant Server ABCD1_000007 8/9809 8/6250 0/3559
?/? c.1082-19C>G r.(=) p.(=) g.153001547C>G Copied from the Exome Variant Server ABCD1_000008 2/10538 2/6709 0/3829
?/? c.1114_1116del r.(?) p.(Lys373del) g.153001598_153001600del Copied from the Exome Variant Server ABCD1_000009 2/10205 0/6484 2/3721
?/? c.1117A>G r.(?) p.(Lys373Glu) g.153001601A>G Copied from the Exome Variant Server ABCD1_000010 2/10563 0/6728 2/3835
?/? c.1165C>T r.(?) p.(Arg389Cys) g.153001649C>T Copied from the Exome Variant Server ABCD1_000011 1/10563 0/6728 1/3835
?/? c.1197T>C r.(=) p.(=) g.153001681T>C Copied from the Exome Variant Server ABCD1_000012 1/10562 1/6728 0/3834
?/? c.1212G>A r.(=) p.(=) g.153001696G>A Copied from the Exome Variant Server ABCD1_000013 1/10563 1/6728 0/3835
?/? c.1215G>A r.(=) p.(=) g.153001699G>A Copied from the Exome Variant Server ABCD1_000014 5/10563 0/6728 5/3835
?/? c.1224+28C>T r.(=) p.(=) g.153001736C>T Copied from the Exome Variant Server ABCD1_000015 1/10563 1/6728 0/3835
?/? c.1225-9C>T r.(=) p.(=) g.153001790C>T Copied from the Exome Variant Server ABCD1_000016 1/10563 0/6728 1/3835
?/? c.1255G>A r.(?) p.(Val419Met) g.153001829G>A Copied from the Exome Variant Server ABCD1_000017 2/10563 2/6728 0/3835
?/? c.1336G>C r.(?) p.(Gly446Arg) g.153001910G>C Copied from the Exome Variant Server ABCD1_000018 1/10562 1/6727 0/3835
?/? c.1354C>T r.(?) p.(Arg452Trp) g.153001928C>T Copied from the Exome Variant Server ABCD1_000019 3/10563 2/6728 1/3835
?/? c.1366C>T r.(?) p.(Arg456Cys) g.153001940C>T Copied from the Exome Variant Server ABCD1_000020 1/10562 0/6727 1/3835
?/? c.1391G>A r.(?) p.(Arg464Gln) g.153001965G>A Copied from the Exome Variant Server ABCD1_000021 1/10563 1/6728 0/3835
?/? c.1393+18C>G r.(=) p.(=) g.153001985C>G Copied from the Exome Variant Server ABCD1_000022 1/10560 1/6727 0/3833
?/? c.1393+31C>T r.(=) p.(=) g.153001998C>T Copied from the Exome Variant Server ABCD1_000023 217/10552 1/6722 216/3830
?/? c.1393+32G>A r.(=) p.(=) g.153001999G>A Copied from the Exome Variant Server ABCD1_000024 1/10552 1/6723 0/3829
?/? c.1428C>G r.(?) p.(Cys476Trp) g.153002645C>G Copied from the Exome Variant Server ABCD1_000025 1/10563 0/6728 1/3835
?/? c.1488+29C>T r.(=) p.(=) g.153002734C>T Copied from the Exome Variant Server ABCD1_000067 1/10525 0/6698 1/3827
?/? c.1489-34C>T r.(=) p.(=) g.153005512C>T Copied from the Exome Variant Server ABCD1_000068 1/10562 1/6727 0/3835
?/? c.1489-24C>G r.(=) p.(=) g.153005522C>G Copied from the Exome Variant Server ABCD1_000069 189/10562 1/6727 188/3835
?/? c.1489-23G>A r.(=) p.(=) g.153005523G>A Copied from the Exome Variant Server ABCD1_000070 1/10559 1/6724 0/3835
?/? c.1489-17G>C r.(=) p.(=) g.153005529G>C Copied from the Exome Variant Server ABCD1_000071 1/10562 1/6727 0/3835
?/? c.1489-14T>C r.(=) p.(=) g.153005532T>C Copied from the Exome Variant Server ABCD1_000072 2/10561 0/6726 2/3835
?/? c.1489-9del r.(=) p.(=) g.153005537del Copied from the Exome Variant Server ABCD1_000073 14/10205 7/6484 7/3721
?/? c.1521C>T r.(=) p.(=) g.153005578C>T Copied from the Exome Variant Server ABCD1_000074 1/10563 0/6728 1/3835
?/? c.1536C>G r.(=) p.(=) g.153005593C>G Copied from the Exome Variant Server ABCD1_000075 2/10563 0/6728 2/3835
?/? c.1542C>T r.(=) p.(=) g.153005599C>T Copied from the Exome Variant Server ABCD1_000076 1/10563 0/6728 1/3835
?/? c.1548G>A r.(=) p.(=) g.153005605G>A Copied from the Exome Variant Server ABCD1_000077 921/10563 729/6728 192/3835
?/? c.1551C>T r.(=) p.(=) g.153005608C>T Copied from the Exome Variant Server ABCD1_000078 1/10563 1/6728 0/3835
?/? c.1581C>T r.(=) p.(=) g.153005638C>T Copied from the Exome Variant Server ABCD1_000080 11/10563 1/6728 10/3835
?/? c.1582G>A r.(?) p.(Gly528Ser) g.153005639G>A Copied from the Exome Variant Server ABCD1_000081 1/10563 0/6728 1/3835
?/? c.1634+12C>T r.(=) p.(=) g.153005703C>T Copied from the Exome Variant Server ABCD1_000082 8/10563 0/6728 8/3835
?/? c.1634+24C>T r.(=) p.(=) g.153005715C>T Copied from the Exome Variant Server ABCD1_000083 1/10563 1/6728 0/3835
?/? c.1634+45C>T r.(=) p.(=) g.153005736C>T Copied from the Exome Variant Server ABCD1_000084 2/10563 0/6728 2/3835
?/? c.1634+46G>A r.(=) p.(=) g.153005737G>A Copied from the Exome Variant Server ABCD1_000085 1/10563 0/6728 1/3835
?/? c.1669G>A r.(?) p.(Val557Met) g.153006062G>A Copied from the Exome Variant Server ABCD1_000086 1/10563 1/6728 0/3835
?/? c.1780+4G>A r.spl? p.? g.153006177G>A Copied from the Exome Variant Server ABCD1_000087 5/10559 0/6726 5/3833
?/? c.1780+27C>G r.(=) p.(=) g.153006200C>G Copied from the Exome Variant Server ABCD1_000079 8/10557 8/6722 0/3835
?/? c.1794G>T r.(?) p.(Met598Ile) g.153008454G>T Copied from the Exome Variant Server ABCD1_000026 1/10549 1/6718 0/3831
?/? c.1810G>A r.(?) p.(Val604Ile) g.153008470G>A Copied from the Exome Variant Server ABCD1_000027 5/10556 3/6723 2/3833
?/? c.1818G>A r.(=) p.(=) g.153008478G>A Copied from the Exome Variant Server ABCD1_000028 6/10558 0/6724 6/3834
?/? c.1825G>A r.(?) p.(Glu609Lys) g.153008485G>A Copied from the Exome Variant Server ABCD1_000029 1/10550 0/6718 1/3832
?/? c.1840G>A r.(?) p.(Gly614Ser) g.153008500G>A Copied from the Exome Variant Server ABCD1_000030 1/10544 0/6716 1/3828
?/? c.1857_1859del r.(?) p.(Tyr620del) g.153008517_153008519del Copied from the Exome Variant Server ABCD1_000031 22/10163 10/6463 12/3700
?/? c.1865+8C>T r.(=) p.(=) g.153008533C>T Copied from the Exome Variant Server ABCD1_000032 1/10497 0/6688 1/3809
?/? c.1902C>T r.(=) p.(=) g.153008711C>T Copied from the Exome Variant Server ABCD1_000033 2/10561 2/6726 0/3835
?/? c.1911C>T r.(=) p.(=) g.153008720C>T Copied from the Exome Variant Server ABCD1_000034 1/10558 1/6725 0/3833
?/? c.1938G>A r.(=) p.(=) g.153008747G>A Copied from the Exome Variant Server ABCD1_000035 1/10553 0/6723 1/3830
?/? c.1991+17C>T r.(=) p.(=) g.153008817C>T Copied from the Exome Variant Server ABCD1_000036 1/10483 1/6685 0/3798
?/? c.1991+42_1991+43insG r.(=) p.(=) g.153008842_153008843insG Copied from the Exome Variant Server ABCD1_000037 180/9879 117/6277 63/3602
?/? c.1992-32C>T r.(=) p.(=) g.153008911C>T Copied from the Exome Variant Server ABCD1_000038 6061/10536 4191/6711 1870/3825
?/? c.1992-29_1992-28insC r.(=) p.(=) g.153008914_153008915insC Copied from the Exome Variant Server ABCD1_000039 5/10166 0/6458 5/3708
?/? c.2019C>T r.(=) p.(=) g.153008970C>T Copied from the Exome Variant Server ABCD1_000040 135/10547 122/6720 13/3827
?/? c.2109G>T r.(=) p.(=) g.153009060G>T Copied from the Exome Variant Server ABCD1_000041 1/10479 1/6675 0/3804
?/? c.2112G>A r.(=) p.(=) g.153009063G>A Copied from the Exome Variant Server ABCD1_000042 1/10476 1/6678 0/3798
?/? c.2181G>A r.(=) p.(=) g.153009132G>A Copied from the Exome Variant Server ABCD1_000043 2/10133 1/6452 1/3681
?/? c.2190G>A r.(=) p.(=) g.153009141G>A Copied from the Exome Variant Server ABCD1_000044 7/9991 5/6364 2/3627
?/? c.*8G>C r.(=) p.(=) g.153009197G>C Copied from the Exome Variant Server ABCD1_000045 6215/8190 3588/5189 2627/3001
Legend