All transcript variants in gene SERPINH1

Information The variants shown are described using the NM_001207014.1 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-23T>C r.(=) p.(=) g.75277372T>C Copied from the Exome Variant Server SERPINH1_000001 14/12532 0/8304 14/4228
?/? c.-19C>T r.(=) p.(=) g.75277376C>T Copied from the Exome Variant Server SERPINH1_000002 376/12536 3/8304 373/4232
?/? c.54C>T r.(=) p.(=) g.75277448C>T Copied from the Exome Variant Server SERPINH1_000003 1/12660 0/8362 1/4298
?/? c.92G>C r.(?) p.(Gly31Ala) g.75277486G>C Copied from the Exome Variant Server SERPINH1_000004 11/12952 9/8564 2/4388
?/? c.97G>C r.(?) p.(Ala33Pro) g.75277491G>C Copied from the Exome Variant Server SERPINH1_000005 9/12958 0/8568 9/4390
?/? c.227C>T r.(?) p.(Ser76Leu) g.75277621C>T Copied from the Exome Variant Server SERPINH1_000006 1/12982 1/8586 0/4396
?/? c.234A>G r.(=) p.(=) g.75277628A>G Copied from the Exome Variant Server SERPINH1_000007 11849/12978 7694/8582 4155/4396
?/? c.240C>T r.(=) p.(=) g.75277634C>T Copied from the Exome Variant Server SERPINH1_000008 1/12980 1/8584 0/4396
?/? c.264C>T r.(=) p.(=) g.75277658C>T Copied from the Exome Variant Server SERPINH1_000009 1/12972 1/8578 0/4394
?/? c.267G>A r.(=) p.(=) g.75277661G>A Copied from the Exome Variant Server SERPINH1_000010 18/12970 13/8578 5/4392
?/? c.305T>A r.(?) p.(Leu102Gln) g.75277699T>A Copied from the Exome Variant Server SERPINH1_000011 1/12940 1/8554 0/4386
?/? c.307C>T r.(?) p.(Arg103Cys) g.75277701C>T Copied from the Exome Variant Server SERPINH1_000012 1/12936 0/8552 1/4384
?/? c.326C>G r.(?) p.(Ala109Gly) g.75277720C>G Copied from the Exome Variant Server SERPINH1_000013 2/12936 0/8546 2/4390
?/? c.346C>A r.(?) p.(Arg116Ser) g.75277740C>A Copied from the Exome Variant Server SERPINH1_000014 1/12972 1/8578 0/4394
?/? c.363C>G r.(=) p.(=) g.75277757C>G Copied from the Exome Variant Server SERPINH1_000015 4485/12978 2587/8578 1898/4400
?/? c.418G>C r.(?) p.(Val140Leu) g.75277812G>C Copied from the Exome Variant Server SERPINH1_000016 1/12982 1/8582 0/4400
?/? c.426C>T r.(=) p.(=) g.75277820C>T Copied from the Exome Variant Server SERPINH1_000017 1/12986 1/8586 0/4400
?/? c.481A>C r.(?) p.(Ile161Leu) g.75277875A>C Copied from the Exome Variant Server SERPINH1_000018 4/12986 1/8586 3/4400
?/? c.492C>T r.(=) p.(=) g.75277886C>T Copied from the Exome Variant Server SERPINH1_000019 6/12986 0/8586 6/4400
?/? c.565A>G r.(?) p.(Thr189Ala) g.75277959A>G Copied from the Exome Variant Server SERPINH1_000020 6/12984 0/8584 6/4400
?/? c.580C>A r.(?) p.(Arg194Ser) g.75277974C>A Copied from the Exome Variant Server SERPINH1_000021 6/12980 6/8582 0/4398
?/? c.595C>T r.(=) p.(=) g.75277989C>T Copied from the Exome Variant Server SERPINH1_000022 1/12958 1/8566 0/4392
?/? c.598C>T r.(=) p.(=) g.75277992C>T Copied from the Exome Variant Server SERPINH1_000024 5512/12948 4755/8558 757/4390
?/? c.622+25_622+27del r.(=) p.(=) g.75278041_75278043del Copied from the Exome Variant Server SERPINH1_000026 20/11948 14/7872 6/4076
?/? c.622+25_622+27dup r.(=) p.(=) g.75278041_75278043dup Copied from the Exome Variant Server SERPINH1_000028 5003/11948 3904/7872 1099/4076
?/? c.623-38C>T r.(=) p.(=) g.75279738C>T Copied from the Exome Variant Server SERPINH1_000023 1/12986 0/8586 1/4400
?/? c.678G>A r.(=) p.(=) g.75279831G>A Copied from the Exome Variant Server SERPINH1_000025 1/12986 1/8586 0/4400
?/? c.693C>T r.(=) p.(=) g.75279846C>T Copied from the Exome Variant Server SERPINH1_000027 4570/12986 2616/8586 1954/4400
?/? c.721+9T>C r.(=) p.(=) g.75279883T>C Copied from the Exome Variant Server SERPINH1_000029 29/12986 2/8586 27/4400
?/? c.722-13G>A r.(=) p.(=) g.75279971G>A Copied from the Exome Variant Server SERPINH1_000030 25/12986 1/8586 24/4400
?/? c.741C>T r.(=) p.(=) g.75280003C>T Copied from the Exome Variant Server SERPINH1_000031 1/12986 0/8586 1/4400
?/? c.744C>T r.(=) p.(=) g.75280006C>T Copied from the Exome Variant Server SERPINH1_000032 29/12986 29/8586 0/4400
?/? c.765C>T r.(=) p.(=) g.75280027C>T Copied from the Exome Variant Server SERPINH1_000033 1/12986 1/8586 0/4400
?/? c.787del r.(?) p.(Lys263Serfs*23) g.75280049del Copied from the Exome Variant Server SERPINH1_000034 22/12518 12/8254 10/4264
?/? c.831T>C r.(=) p.(=) g.75280093T>C Copied from the Exome Variant Server SERPINH1_000035 1/12986 1/8586 0/4400
?/? c.834C>G r.(=) p.(=) g.75280096C>G Copied from the Exome Variant Server SERPINH1_000036 1/12986 1/8586 0/4400
?/? c.839G>A r.(?) p.(Arg280His) g.75280101G>A Copied from the Exome Variant Server SERPINH1_000037 2/12986 2/8586 0/4400
?/? c.840C>T r.(=) p.(=) g.75280102C>T Copied from the Exome Variant Server SERPINH1_000038 3/12986 3/8586 0/4400
?/? c.915C>T r.(=) p.(=) g.75280177C>T Copied from the Exome Variant Server SERPINH1_000039 6/12986 0/8586 6/4400
?/? c.923A>G r.(?) p.(Lys308Arg) g.75280185A>G Copied from the Exome Variant Server SERPINH1_000040 1/12986 1/8586 0/4400
?/? c.954+29C>T r.(=) p.(=) g.75280245C>T Copied from the Exome Variant Server SERPINH1_000041 2/12966 0/8576 2/4390
?/? c.955-47A>G r.(=) p.(=) g.75282779A>G Copied from the Exome Variant Server SERPINH1_000042 1/12982 1/8582 0/4400
?/? c.955-33G>A r.(=) p.(=) g.75282793G>A Copied from the Exome Variant Server SERPINH1_000043 2/12984 1/8584 1/4400
?/? c.955-19C>T r.(=) p.(=) g.75282807C>T Copied from the Exome Variant Server SERPINH1_000044 1/12986 1/8586 0/4400
?/? c.955-7C>T r.(=) p.(=) g.75282819C>T Copied from the Exome Variant Server SERPINH1_000045 1/12986 1/8586 0/4400
?/? c.955-6C>A r.(=) p.(=) g.75282820C>A Copied from the Exome Variant Server SERPINH1_000046 442/12986 3/8586 439/4400
?/? c.960del r.(?) p.(Leu321Trpfs*6) g.75282831del Copied from the Exome Variant Server SERPINH1_000047 4/12518 4/8254 0/4264
?/? c.968G>A r.(?) p.(Gly323Glu) g.75282839G>A Copied from the Exome Variant Server SERPINH1_000048 1/12986 1/8586 0/4400
?/? c.996G>C r.(?) p.(Lys332Asn) g.75282867G>C Copied from the Exome Variant Server SERPINH1_000049 1/12986 1/8586 0/4400
?/? c.1011G>A r.(=) p.(=) g.75282882G>A Copied from the Exome Variant Server SERPINH1_000050 4549/12986 2609/8586 1940/4400
?/? c.1049G>C r.(?) p.(Ser350Thr) g.75282920G>C Copied from the Exome Variant Server SERPINH1_000051 2/12986 2/8586 0/4400
?/? c.1051G>A r.(?) p.(Val351Met) g.75282922G>A Copied from the Exome Variant Server SERPINH1_000052 1/12986 1/8586 0/4400
?/? c.1059C>T r.(=) p.(=) g.75282930C>T Copied from the Exome Variant Server SERPINH1_000053 1/12986 1/8586 0/4400
?/? c.1060G>A r.(?) p.(Ala354Thr) g.75282931G>A Copied from the Exome Variant Server SERPINH1_000054 1/12986 1/8586 0/4400
?/? c.1119C>T r.(=) p.(=) g.75282990C>T Copied from the Exome Variant Server SERPINH1_000055 4/12986 4/8586 0/4400
?/? c.1152C>T r.(=) p.(=) g.75283023C>T Copied from the Exome Variant Server SERPINH1_000056 2/12986 2/8586 0/4400
?/? c.1191C>T r.(=) p.(=) g.75283062C>T Copied from the Exome Variant Server SERPINH1_000057 1/12986 1/8586 0/4400
?/? c.1196C>T r.(?) p.(Ser399Phe) g.75283067C>T Copied from the Exome Variant Server SERPINH1_000058 1/12986 1/8586 0/4400
?/? c.1208T>C r.(?) p.(Ile403Thr) g.75283079T>C Copied from the Exome Variant Server SERPINH1_000059 1/12986 1/8586 0/4400
?/? c.1219G>C r.(?) p.(Val407Leu) g.75283090G>C Copied from the Exome Variant Server SERPINH1_000060 26/12986 0/8586 26/4400
?/? c.1223G>A r.(?) p.(Arg408Gln) g.75283094G>A Copied from the Exome Variant Server SERPINH1_000061 1/12986 1/8586 0/4400
?/? c.1243C>A r.(=) p.(=) g.75283114C>A Copied from the Exome Variant Server SERPINH1_000062 1/12986 1/8586 0/4400
?/? c.1248C>T r.(=) p.(=) g.75283119C>T Copied from the Exome Variant Server SERPINH1_000063 1/12986 0/8586 1/4400
?/? c.*3C>T r.(=) p.(=) g.75283131C>T Copied from the Exome Variant Server SERPINH1_000064 1/12986 0/8586 1/4400
?/? c.*18_*19insGGAT r.(=) p.(=) g.75283146_75283147insGGAT Copied from the Exome Variant Server SERPINH1_000065 2/12490 1/8234 1/4256
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