All transcript variants in gene HDX

Information The variants shown are described using the NM_144657.4 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.1-8A>C r.(=) p.(=) g.83730413T>G Copied from the Exome Variant Server HDX_000060 1/10529 1/6704 0/3825
?/? c.17T>C r.(?) p.(Val6Ala) g.83730389A>G Copied from the Exome Variant Server HDX_000059 1/10559 1/6724 0/3835
?/? c.28G>A r.(?) p.(Glu10Lys) g.83730378C>T Copied from the Exome Variant Server HDX_000058 1/10561 1/6726 0/3835
?/? c.54T>C r.(=) p.(=) g.83730352A>G Copied from the Exome Variant Server HDX_000057 1/10561 0/6727 1/3834
?/? c.92T>C r.(?) p.(Phe31Ser) g.83730314A>G Copied from the Exome Variant Server HDX_000056 2/10563 2/6728 0/3835
?/? c.147+8T>C r.(=) p.(=) g.83730251A>G Copied from the Exome Variant Server HDX_000055 3/10563 3/6728 0/3835
?/? c.147+38T>G r.(=) p.(=) g.83730221A>C Copied from the Exome Variant Server HDX_000054 1/10562 1/6727 0/3835
?/? c.237C>T r.(=) p.(=) g.83724494G>A Copied from the Exome Variant Server HDX_000053 2/10563 0/6728 2/3835
?/? c.262A>G r.(?) p.(Ile88Val) g.83724469T>C Copied from the Exome Variant Server HDX_000052 2/10563 0/6728 2/3835
?/? c.266C>T r.(?) p.(Ala89Val) g.83724465G>A Copied from the Exome Variant Server HDX_000051 1/10563 1/6728 0/3835
?/? c.356G>A r.(?) p.(Arg119Lys) g.83724375C>T Copied from the Exome Variant Server HDX_000050 5/10563 0/6728 5/3835
?/? c.397G>A r.(?) p.(Ala133Thr) g.83724334C>T Copied from the Exome Variant Server HDX_000049 3/10563 0/6728 3/3835
?/? c.441T>C r.(=) p.(=) g.83724290A>G Copied from the Exome Variant Server HDX_000048 1/10563 0/6728 1/3835
?/? c.576C>T r.(=) p.(=) g.83724155G>A Copied from the Exome Variant Server HDX_000047 2/10563 1/6728 1/3835
?/? c.577G>A r.(?) p.(Ala193Thr) g.83724154C>T Copied from the Exome Variant Server HDX_000046 183/10563 0/6728 183/3835
?/? c.711C>T r.(=) p.(=) g.83724020G>A Copied from the Exome Variant Server HDX_000045 184/10563 0/6728 184/3835
?/? c.819C>T r.(=) p.(=) g.83723912G>A Copied from the Exome Variant Server HDX_000044 258/10563 1/6728 257/3835
?/? c.854A>G r.(?) p.(Lys285Arg) g.83723877T>C Copied from the Exome Variant Server HDX_000043 1/10563 1/6728 0/3835
?/? c.1061T>A r.(?) p.(Met354Lys) g.83723670A>T Copied from the Exome Variant Server HDX_000042 1/10563 1/6728 0/3835
?/? c.1083A>G r.(=) p.(=) g.83723648T>C Copied from the Exome Variant Server HDX_000041 50/10563 0/6728 50/3835
?/? c.1120A>G r.(?) p.(Thr374Ala) g.83723611T>C Copied from the Exome Variant Server HDX_000040 1/10563 0/6728 1/3835
?/? c.1154C>A r.(?) p.(Thr385Lys) g.83723577G>T Copied from the Exome Variant Server HDX_000039 1/10563 1/6728 0/3835
?/? c.1161C>T r.(=) p.(=) g.83723570G>A Copied from the Exome Variant Server HDX_000038 2/10563 2/6728 0/3835
?/? c.1174C>T r.(?) p.(Pro392Ser) g.83723557G>A Copied from the Exome Variant Server HDX_000037 3/10563 0/6728 3/3835
?/? c.1181G>A r.(?) p.(Arg394Gln) g.83723550C>T Copied from the Exome Variant Server HDX_000036 2/10563 0/6728 2/3835
?/? c.1190T>C r.(?) p.(Phe397Ser) g.83723541A>G Copied from the Exome Variant Server HDX_000035 1402/10561 1295/6728 107/3833
?/? c.1252-48G>A r.(=) p.(=) g.83695641C>T Copied from the Exome Variant Server HDX_000034 1/10557 1/6723 0/3834
?/? c.1306-38C>G r.(=) p.(=) g.83616658G>C Copied from the Exome Variant Server HDX_000033 5/10540 0/6711 5/3829
?/? c.1307T>C r.(?) p.(Leu436Pro) g.83616619A>G Copied from the Exome Variant Server HDX_000032 2/10563 2/6728 0/3835
?/? c.1334G>A r.(?) p.(Arg445Gln) g.83616592C>T Copied from the Exome Variant Server HDX_000031 1/10563 0/6728 1/3835
?/? c.1369G>A r.(?) p.(Gly457Ser) g.83616557C>T Copied from the Exome Variant Server HDX_000030 1/10561 0/6728 1/3833
?/? c.1386C>T r.(=) p.(=) g.83616540G>A Copied from the Exome Variant Server HDX_000029 29/10563 0/6728 29/3835
?/? c.1484G>T r.(?) p.(Arg495Leu) g.83599434C>A Copied from the Exome Variant Server HDX_000028 1/10563 1/6728 0/3835
?/? c.1518A>G r.(=) p.(=) g.83599400T>C Copied from the Exome Variant Server HDX_000027 1/10563 1/6728 0/3835
?/? c.1593T>G r.(=) p.(=) g.83599325A>C Copied from the Exome Variant Server HDX_000025 2/10563 2/6728 0/3835
?/? c.1644T>C r.(=) p.(=) g.83599274A>G Copied from the Exome Variant Server HDX_000026 2/10563 0/6728 2/3835
?/? c.1660+33C>T r.(=) p.(=) g.83599225G>A Copied from the Exome Variant Server HDX_000024 27/10563 0/6728 27/3835
?/? c.1661-37C>A r.(=) p.(=) g.83591925G>T Copied from the Exome Variant Server HDX_000023 28/10547 2/6716 26/3831
?/? c.1661-16G>A r.(=) p.(=) g.83591904C>T Copied from the Exome Variant Server HDX_000022 2/10553 0/6720 2/3833
?/? c.1661-7_1661-6insT r.(=) p.(=) g.83591894_83591895insA Copied from the Exome Variant Server HDX_000021 26/10196 0/6477 26/3719
?/? c.1663G>A r.(?) p.(Glu555Lys) g.83591886C>T Copied from the Exome Variant Server HDX_000020 1/10556 0/6723 1/3833
?/? c.1670A>G r.(?) p.(Asn557Ser) g.83591879T>C Copied from the Exome Variant Server HDX_000019 507/10557 4/6724 503/3833
?/? c.1683G>A r.(=) p.(=) g.83591866C>T Copied from the Exome Variant Server HDX_000018 1499/10558 1356/6725 143/3833
?/? c.1715A>G r.(?) p.(His572Arg) g.83591834T>C Copied from the Exome Variant Server HDX_000017 2/10558 1/6725 1/3833
?/? c.1721C>G r.(?) p.(Ala574Gly) g.83591828G>C Copied from the Exome Variant Server HDX_000016 1/10558 0/6725 1/3833
?/? c.1741-40G>A r.(=) p.(=) g.83588890C>T Copied from the Exome Variant Server HDX_000015 2/10395 1/6623 1/3772
?/? c.1741-28A>G r.(=) p.(=) g.83588878T>C Copied from the Exome Variant Server HDX_000014 2/10398 2/6621 0/3777
?/? c.1824+6T>C r.(=) p.(=) g.83588761A>G Copied from the Exome Variant Server HDX_000013 1/10431 0/6661 1/3770
?/? c.1858G>A r.(?) p.(Glu620Lys) g.83581275C>T Copied from the Exome Variant Server HDX_000012 1/10559 0/6726 1/3833
?/? c.1869G>A r.(=) p.(=) g.83581264C>T Copied from the Exome Variant Server HDX_000011 10/10559 2/6726 8/3833
?/? c.1875A>G r.(=) p.(=) g.83581258T>C Copied from the Exome Variant Server HDX_000010 7/10559 0/6726 7/3833
?/? c.1912T>C r.(=) p.(=) g.83581221A>G Copied from the Exome Variant Server HDX_000009 26/10563 0/6728 26/3835
?/? c.1918A>G r.(?) p.(Met640Val) g.83581215T>C Copied from the Exome Variant Server HDX_000008 2/10563 2/6728 0/3835
?/? c.1947+26C>A r.(=) p.(=) g.83581160G>T Copied from the Exome Variant Server HDX_000007 1/10563 1/6728 0/3835
?/? c.1947+50G>T r.(=) p.(=) g.83581136C>A Copied from the Exome Variant Server HDX_000006 3/10563 2/6728 1/3835
?/? c.1948-33T>A r.(=) p.(=) g.83577055A>T Copied from the Exome Variant Server HDX_000005 20/10443 0/6645 20/3798
?/? c.1948-7_1948-6insT r.(=) p.(=) g.83577028_83577029insA Copied from the Exome Variant Server HDX_000004 45/10156 9/6450 36/3706
?/? c.1980G>A r.(=) p.(=) g.83576990C>T Copied from the Exome Variant Server HDX_000003 1/10562 1/6727 0/3835
?/? c.2032G>T r.(?) p.(Val678Leu) g.83576938C>A Copied from the Exome Variant Server HDX_000002 1/10563 1/6728 0/3835
?/? c.*36G>A r.(=) p.(=) g.83576861C>T Copied from the Exome Variant Server HDX_000001 1/10558 0/6725 1/3833
Legend