Unique variants in gene HTATSF1

Information The variants shown are described using the NM_014500.4 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-7A>G r.(=) p.(=) g.135579837A>G Copied from the Exome Variant Server HTATSF1_000026 1/10563 0/6728 1/3835
1 c.24G>C r.(=) p.(=) g.135579867G>C Copied from the Exome Variant Server HTATSF1_000027 22/10563 18/6728 4/3835
1 c.28G>C r.(?) p.(Asp10His) g.135579871G>C Copied from the Exome Variant Server HTATSF1_000028 1/10563 1/6728 0/3835
1 c.227G>A r.(?) p.(Gly76Asp) g.135581797G>A Copied from the Exome Variant Server HTATSF1_000029 2/10563 1/6728 1/3835
1 c.243C>T r.(=) p.(=) g.135581813C>T Copied from the Exome Variant Server HTATSF1_000030 1/10563 1/6728 0/3835
1 c.246A>G r.(=) p.(=) g.135581816A>G Copied from the Exome Variant Server HTATSF1_000001 1/10563 0/6728 1/3835
1 c.294G>A r.(=) p.(=) g.135581864G>A Copied from the Exome Variant Server HTATSF1_000002 2/10563 2/6728 0/3835
1 c.328G>A r.(?) p.(Asp110Asn) g.135581898G>A Copied from the Exome Variant Server HTATSF1_000003 2/10563 0/6728 2/3835
1 c.367+27A>C r.(=) p.(=) g.135581964A>C Copied from the Exome Variant Server HTATSF1_000004 1/10559 0/6726 1/3833
1 c.368-47T>A r.(=) p.(=) g.135582270T>A Copied from the Exome Variant Server HTATSF1_000005 2/10323 0/6630 2/3693
1 c.390C>T r.(=) p.(=) g.135582339C>T Copied from the Exome Variant Server HTATSF1_000006 4/10550 0/6716 4/3834
1 c.415+36A>G r.(=) p.(=) g.135582400A>G Copied from the Exome Variant Server HTATSF1_000007 1/10541 0/6711 1/3830
1 c.415+41T>A r.(=) p.(=) g.135582405T>A Copied from the Exome Variant Server HTATSF1_000008 1/10540 0/6710 1/3830
1 c.441T>C r.(=) p.(=) g.135582848T>C Copied from the Exome Variant Server HTATSF1_000009 6/10556 0/6723 6/3833
1 c.521A>G r.(?) p.(Lys174Arg) g.135582928A>G Copied from the Exome Variant Server HTATSF1_000010 1/10557 0/6722 1/3835
1 c.570+6T>C r.(=) p.(=) g.135582983T>C Copied from the Exome Variant Server HTATSF1_000011 1/10549 0/6714 1/3835
1 c.570+8del r.(=) p.(=) g.135582985del Copied from the Exome Variant Server HTATSF1_000012 1/10193 1/6472 0/3721
1 c.570+17A>T r.(=) p.(=) g.135582994A>T Copied from the Exome Variant Server HTATSF1_000013 5/10552 5/6717 0/3835
1 c.570+36C>T r.(=) p.(=) g.135583013C>T Copied from the Exome Variant Server HTATSF1_000014 1/10540 0/6715 1/3825
1 c.591A>G r.(=) p.(=) g.135584957A>G Copied from the Exome Variant Server HTATSF1_000015 1/10562 0/6727 1/3835
1 c.629A>G r.(?) p.(Lys210Arg) g.135584995A>G Copied from the Exome Variant Server HTATSF1_000016 1/10562 1/6727 0/3835
1 c.678C>T r.(=) p.(=) g.135585044C>T Copied from the Exome Variant Server HTATSF1_000017 1/10562 0/6727 1/3835
1 c.681_683del r.(?) p.(Lys232del) g.135585047_135585049del Copied from the Exome Variant Server HTATSF1_000018 2/10204 1/6483 1/3721
1 c.786T>C r.(=) p.(=) g.135586574T>C Copied from the Exome Variant Server HTATSF1_000019 1/10563 0/6728 1/3835
1 c.834+53_834+56del r.(=) p.(=) g.135586675_135586678del Copied from the Exome Variant Server HTATSF1_000020 1/10205 0/6484 1/3721
1 c.835-27C>T r.(=) p.(=) g.135591223C>T Copied from the Exome Variant Server HTATSF1_000021 78/10563 1/6728 77/3835
1 c.925-36T>C r.(=) p.(=) g.135592205T>C Copied from the Exome Variant Server HTATSF1_000022 132/10560 2/6725 130/3835
1 c.925-9T>C r.(=) p.(=) g.135592232T>C Copied from the Exome Variant Server HTATSF1_000023 1/10563 0/6728 1/3835
1 c.945C>T r.(=) p.(=) g.135592261C>T Copied from the Exome Variant Server HTATSF1_000024 6/10563 0/6728 6/3835
1 c.1014T>A r.(=) p.(=) g.135592330T>A Copied from the Exome Variant Server HTATSF1_000025 4/10563 4/6728 0/3835
1 c.1034A>G r.(?) p.(Gln345Arg) g.135592350A>G Copied from the Exome Variant Server HTATSF1_000031 1/10563 1/6728 0/3835
1 c.1062+19C>A r.(=) p.(=) g.135592397C>A Copied from the Exome Variant Server HTATSF1_000032 1/10563 0/6728 1/3835
1 c.1063-16C>T r.(=) p.(=) g.135592951C>T Copied from the Exome Variant Server HTATSF1_000033 1/10563 1/6728 0/3835
1 c.1173C>T r.(=) p.(=) g.135593077C>T Copied from the Exome Variant Server HTATSF1_000063 1/10563 1/6728 0/3835
1 c.1202A>G r.(?) p.(His401Arg) g.135593106A>G Copied from the Exome Variant Server HTATSF1_000060 1/10562 1/6728 0/3834
1 c.1224A>G r.(=) p.(=) g.135593128A>G Copied from the Exome Variant Server HTATSF1_000061 1/10563 1/6728 0/3835
1 c.1263G>A r.(=) p.(=) g.135593167G>A Copied from the Exome Variant Server HTATSF1_000062 1500/10563 73/6728 1427/3835
1 c.1296A>G r.(=) p.(=) g.135593200A>G Copied from the Exome Variant Server HTATSF1_000049 1/10562 1/6727 0/3835
1 c.1362C>T r.(=) p.(=) g.135593266C>T Copied from the Exome Variant Server HTATSF1_000050 1/10538 0/6720 1/3818
1 c.1412G>T r.(?) p.(Cys471Phe) g.135593316G>T Copied from the Exome Variant Server HTATSF1_000051 33/10521 30/6709 3/3812
1 c.1418A>G r.(?) p.(Lys473Arg) g.135593322A>G Copied from the Exome Variant Server HTATSF1_000052 8/10509 8/6703 0/3806
1 c.1433G>C r.(?) p.(Gly478Ala) g.135593337G>C Copied from the Exome Variant Server HTATSF1_000053 28/10527 23/6709 5/3818
1 c.1508C>T r.(?) p.(Ser503Phe) g.135593412C>T Copied from the Exome Variant Server HTATSF1_000054 1/10482 1/6666 0/3816
1 c.1660_1661insA r.(?) p.(Gln556Thrfs*3) g.135593564_135593565insA Copied from the Exome Variant Server HTATSF1_000055 1/10201 1/6483 0/3718
1 c.1670C>A r.(?) p.(Ser557Tyr) g.135593574C>A Copied from the Exome Variant Server HTATSF1_000056 1/10559 1/6727 0/3832
1 c.1684G>A r.(?) p.(Glu562Lys) g.135593588G>A Copied from the Exome Variant Server HTATSF1_000057 8/10561 0/6726 8/3835
1 c.1725C>T r.(=) p.(=) g.135593629C>T Copied from the Exome Variant Server HTATSF1_000058 976/10560 899/6726 77/3834
1 c.1821T>A r.(=) p.(=) g.135593725T>A Copied from the Exome Variant Server HTATSF1_000059 1/10552 0/6719 1/3833
1 c.1853G>A r.(?) p.(Arg618Lys) g.135593757G>A Copied from the Exome Variant Server HTATSF1_000034 10/10559 0/6725 10/3834
1 c.1888_1890del r.(?) p.(Glu631del) g.135593792_135593794del Copied from the Exome Variant Server HTATSF1_000035 3/10201 2/6480 1/3721
1 c.1950T>C r.(=) p.(=) g.135593854T>C Copied from the Exome Variant Server HTATSF1_000036 1/10563 0/6728 1/3835
1 c.1989G>A r.(=) p.(=) g.135593893G>A Copied from the Exome Variant Server HTATSF1_000037 2/10563 2/6728 0/3835
1 c.2016G>A r.(=) p.(=) g.135593920G>A Copied from the Exome Variant Server HTATSF1_000038 1/10563 1/6728 0/3835
1 c.2036A>G r.(?) p.(Lys679Arg) g.135593940A>G Copied from the Exome Variant Server HTATSF1_000039 1/10563 0/6728 1/3835
1 c.2092G>A r.(?) p.(Glu698Lys) g.135593996G>A Copied from the Exome Variant Server HTATSF1_000040 2/10563 2/6728 0/3835
1 c.2108A>G r.(?) p.(Asn703Ser) g.135594012A>G Copied from the Exome Variant Server HTATSF1_000041 17/10563 0/6728 17/3835
1 c.2183G>A r.(?) p.(Gly728Asp) g.135594087G>A Copied from the Exome Variant Server HTATSF1_000042 1/10563 1/6728 0/3835
1 c.2189T>C r.(?) p.(Phe730Ser) g.135594093T>C Copied from the Exome Variant Server HTATSF1_000043 10/10563 10/6728 0/3835
1 c.2210C>G r.(?) p.(Pro737Arg) g.135594114C>G Copied from the Exome Variant Server HTATSF1_000044 1/10563 0/6728 1/3835
1 c.2256C>T r.(=) p.(=) g.135594160C>T Copied from the Exome Variant Server HTATSF1_000045 1/10563 1/6728 0/3835
1 c.2257G>A r.(?) p.(Asp753Asn) g.135594161G>A Copied from the Exome Variant Server HTATSF1_000046 1/10563 0/6728 1/3835
1 c.*27G>C r.(=) p.(=) g.135594199G>C Copied from the Exome Variant Server HTATSF1_000047 139/10563 9/6728 130/3835
1 c.*48G>A r.(=) p.(=) g.135594220G>A Copied from the Exome Variant Server HTATSF1_000048 21/10562 0/6727 21/3835
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