Unique variants in gene NSDHL

Information The variants shown are described using the NM_015922.2 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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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.-22C>T r.(=) p.(=) g.152014847C>T Copied from the Exome Variant Server NSDHL_000060 1/10563 1/6728 0/3835
1 c.-17C>T r.(=) p.(=) g.152014852C>T Copied from the Exome Variant Server NSDHL_000061 1/10563 1/6728 0/3835
1 c.-4C>T r.(=) p.(=) g.152014865C>T Copied from the Exome Variant Server NSDHL_000062 1/10563 0/6728 1/3835
1 c.25A>G r.(?) p.(Met9Val) g.152014893A>G Copied from the Exome Variant Server NSDHL_000063 34/10563 34/6728 0/3835
1 c.40G>A r.(?) p.(Ala14Thr) g.152014908G>A Copied from the Exome Variant Server NSDHL_000064 1/10563 0/6728 1/3835
1 c.41C>T r.(?) p.(Ala14Val) g.152014909C>T Copied from the Exome Variant Server NSDHL_000065 1/10563 1/6728 0/3835
1 c.43C>T r.(?) p.(Arg15Trp) g.152014911C>T Copied from the Exome Variant Server NSDHL_000066 1/10563 1/6728 0/3835
1 c.44G>A r.(?) p.(Arg15Gln) g.152014912G>A Copied from the Exome Variant Server NSDHL_000067 1/10563 1/6728 0/3835
1 c.65C>T r.(?) p.(Thr22Ile) g.152014933C>T Copied from the Exome Variant Server NSDHL_000068 3/10563 0/6728 3/3835
1 c.83A>G r.(?) p.(Asp28Gly) g.152014951A>G Copied from the Exome Variant Server NSDHL_000069 1/10563 0/6728 1/3835
1 c.100C>G r.(?) p.(Gln34Glu) g.152014968C>G Copied from the Exome Variant Server NSDHL_000070 1/10563 0/6728 1/3835
1 c.108+43A>G r.(=) p.(=) g.152015019A>G Copied from the Exome Variant Server NSDHL_000071 1/10563 0/6728 1/3835
1 c.109-51C>T r.(=) p.(=) g.152018758C>T Copied from the Exome Variant Server NSDHL_000072 1/10563 1/6728 0/3835
1 c.109-35C>T r.(=) p.(=) g.152018774C>T Copied from the Exome Variant Server NSDHL_000073 1/10563 1/6728 0/3835
1 c.109-29T>G r.(=) p.(=) g.152018780T>G Copied from the Exome Variant Server NSDHL_000074 65/10563 0/6728 65/3835
1 c.109-18G>A r.(=) p.(=) g.152018791G>A Copied from the Exome Variant Server NSDHL_000075 1/10563 1/6728 0/3835
1 c.132T>G r.(=) p.(=) g.152018832T>G Copied from the Exome Variant Server NSDHL_000076 8669/10563 5812/6728 2857/3835
1 c.157A>G r.(?) p.(Met53Val) g.152018857A>G Copied from the Exome Variant Server NSDHL_000077 1/10563 1/6728 0/3835
1 c.194A>G r.(?) p.(Asn65Ser) g.152018894A>G Copied from the Exome Variant Server NSDHL_000059 1/10563 1/6728 0/3835
1 c.233T>C r.(?) p.(Val78Ala) g.152018933T>C Copied from the Exome Variant Server NSDHL_000046 5/10563 5/6728 0/3835
1 c.265C>G r.(?) p.(Gln89Glu) g.152018965C>G Copied from the Exome Variant Server NSDHL_000047 1/10563 1/6728 0/3835
1 c.267+7G>A r.(=) p.(=) g.152018974G>A Copied from the Exome Variant Server NSDHL_000048 2/10563 2/6728 0/3835
1 c.268-18_268-17insT r.(=) p.(=) g.152027296_152027297insT Copied from the Exome Variant Server NSDHL_000049 7/10205 0/6484 7/3721
1 c.283C>G r.(?) p.(Leu95Val) g.152027329C>G Copied from the Exome Variant Server NSDHL_000050 3/10563 0/6728 3/3835
1 c.306C>T r.(=) p.(=) g.152027352C>T Copied from the Exome Variant Server NSDHL_000051 15/10563 14/6728 1/3835
1 c.329C>T r.(?) p.(Ser110Phe) g.152027375C>T Copied from the Exome Variant Server NSDHL_000052 1/10563 1/6728 0/3835
1 c.337A>C r.(?) p.(Asn113His) g.152027383A>C Copied from the Exome Variant Server NSDHL_000053 3/10563 0/6728 3/3835
1 c.351T>C r.(=) p.(=) g.152027397T>C Copied from the Exome Variant Server NSDHL_000054 6/10563 6/6728 0/3835
1 c.356G>A r.(?) p.(Arg119Lys) g.152027402G>A Copied from the Exome Variant Server NSDHL_000016 3/10563 3/6728 0/3835
1 c.367A>G r.(?) p.(Ile123Val) g.152027413A>G Copied from the Exome Variant Server NSDHL_000017 1/10563 0/6728 1/3835
1 c.414+37C>T r.(=) p.(=) g.152027497C>T Copied from the Exome Variant Server NSDHL_000018 1/10563 0/6728 1/3835
1 c.414+41A>C r.(=) p.(=) g.152027501A>C Copied from the Exome Variant Server NSDHL_000019 1/10563 0/6728 1/3835
1 c.445A>G r.(?) p.(Ile149Val) g.152031170A>G Copied from the Exome Variant Server NSDHL_000020 1/10563 1/6728 0/3835
1 c.543+8C>T r.(=) p.(=) g.152031276C>T Copied from the Exome Variant Server NSDHL_000021 1/10563 1/6728 0/3835
1 c.543+16C>T r.(=) p.(=) g.152031284C>T Copied from the Exome Variant Server NSDHL_000022 2/10563 2/6728 0/3835
1 c.544-49G>A r.(=) p.(=) g.152034314G>A Copied from the Exome Variant Server NSDHL_000023 1/10563 0/6728 1/3835
1 c.544-48G>A r.(=) p.(=) g.152034315G>A Copied from the Exome Variant Server NSDHL_000024 1/10563 1/6728 0/3835
1 c.544-26G>A r.(=) p.(=) g.152034337G>A Copied from the Exome Variant Server NSDHL_000025 1/10563 0/6728 1/3835
1 c.561C>T r.(=) p.(=) g.152034380C>T Copied from the Exome Variant Server NSDHL_000026 1/10563 1/6728 0/3835
1 c.562G>A r.(?) p.(Asp188Asn) g.152034381G>A Copied from the Exome Variant Server NSDHL_000027 1/10563 1/6728 0/3835
1 c.592A>C r.(?) p.(Ile198Leu) g.152034411A>C Copied from the Exome Variant Server NSDHL_000028 3/10563 0/6728 3/3835
1 c.649G>A r.(?) p.(Glu217Lys) g.152034468G>A Copied from the Exome Variant Server NSDHL_000029 6/10563 6/6728 0/3835
1 c.662A>G r.(?) p.(Asn221Ser) g.152034481A>G Copied from the Exome Variant Server NSDHL_000030 1/10563 0/6728 1/3835
1 c.678C>T r.(=) p.(=) g.152034497C>T Copied from the Exome Variant Server NSDHL_000031 6/10563 0/6728 6/3835
1 c.686+44A>G r.(=) p.(=) g.152034549A>G Copied from the Exome Variant Server NSDHL_000032 1/10563 1/6728 0/3835
1 c.726C>T r.(=) p.(=) g.152036154C>T Copied from the Exome Variant Server NSDHL_000033 1/10563 1/6728 0/3835
1 c.738A>G r.(=) p.(=) g.152036166A>G Copied from the Exome Variant Server NSDHL_000034 1/10563 0/6728 1/3835
1 c.750G>A r.(=) p.(=) g.152036178G>A Copied from the Exome Variant Server NSDHL_000035 22/10563 1/6728 21/3835
1 c.754G>C r.(?) p.(Glu252Gln) g.152036182G>C Copied from the Exome Variant Server NSDHL_000036 1/10563 1/6728 0/3835
1 c.757C>A r.(?) p.(Gln253Lys) g.152036185C>A Copied from the Exome Variant Server NSDHL_000037 1/10563 1/6728 0/3835
1 c.766C>A r.(=) p.(=) g.152036194C>A Copied from the Exome Variant Server NSDHL_000038 1/10563 1/6728 0/3835
1 c.773C>T r.(?) p.(Ser258Leu) g.152036201C>T Copied from the Exome Variant Server NSDHL_000039 1/10563 1/6728 0/3835
1 c.789+17C>T r.(=) p.(=) g.152036234C>T Copied from the Exome Variant Server NSDHL_000040 5/10563 5/6728 0/3835
1 c.789+18G>A r.(=) p.(=) g.152036235G>A Copied from the Exome Variant Server NSDHL_000055 4/10563 0/6728 4/3835
1 c.790-21T>C r.(=) p.(=) g.152037307T>C Copied from the Exome Variant Server NSDHL_000056 8/10560 1/6725 7/3835
1 c.790-7C>T r.(=) p.(=) g.152037321C>T Copied from the Exome Variant Server NSDHL_000057 1/10562 1/6727 0/3835
1 c.790-6C>T r.(=) p.(=) g.152037322C>T Copied from the Exome Variant Server NSDHL_000058 1/10562 1/6727 0/3835
1 c.790-5G>A r.spl? p.? g.152037323G>A Copied from the Exome Variant Server NSDHL_000041 1/10562 1/6727 0/3835
1 c.821C>G r.(?) p.(Pro274Arg) g.152037359C>G Copied from the Exome Variant Server NSDHL_000042 1/10563 0/6728 1/3835
1 c.834C>T r.(=) p.(=) g.152037372C>T Copied from the Exome Variant Server NSDHL_000043 7/10563 0/6728 7/3835
1 c.841C>T r.(?) p.(Arg281Cys) g.152037379C>T Copied from the Exome Variant Server NSDHL_000044 16/10563 1/6728 15/3835
1 c.873C>T r.(=) p.(=) g.152037411C>T Copied from the Exome Variant Server NSDHL_000045 1/10563 1/6728 0/3835
1 c.880C>T r.(?) p.(His294Tyr) g.152037418C>T Copied from the Exome Variant Server NSDHL_000001 1/10563 0/6728 1/3835
1 c.893G>T r.(?) p.(Trp298Leu) g.152037431G>T Copied from the Exome Variant Server NSDHL_000002 24/10563 0/6728 24/3835
1 c.901T>C r.(?) p.(Tyr301His) g.152037439T>C Copied from the Exome Variant Server NSDHL_000003 1/10563 0/6728 1/3835
1 c.921A>G r.(=) p.(=) g.152037459A>G Copied from the Exome Variant Server NSDHL_000004 1/10563 0/6728 1/3835
1 c.942C>T r.(=) p.(=) g.152037480C>T Copied from the Exome Variant Server NSDHL_000005 92/10563 1/6728 91/3835
1 c.987C>T r.(=) p.(=) g.152037525C>T Copied from the Exome Variant Server NSDHL_000006 4/10563 1/6728 3/3835
1 c.990A>G r.(=) p.(=) g.152037528A>G Copied from the Exome Variant Server NSDHL_000007 1/10563 1/6728 0/3835
1 c.997G>A r.(?) p.(Gly333Ser) g.152037535G>A Copied from the Exome Variant Server NSDHL_000008 1/10563 0/6728 1/3835
1 c.1020C>T r.(=) p.(=) g.152037558C>T Copied from the Exome Variant Server NSDHL_000009 1/10563 1/6728 0/3835
1 c.1054C>T r.(=) p.(=) g.152037592C>T Copied from the Exome Variant Server NSDHL_000010 55/10563 51/6728 4/3835
1 c.1087G>A r.(?) p.(Val363Met) g.152037625G>A Copied from the Exome Variant Server NSDHL_000011 3/10563 3/6728 0/3835
1 c.1108C>T r.(?) p.(Arg370Trp) g.152037646C>T Copied from the Exome Variant Server NSDHL_000012 2/10563 1/6728 1/3835
1 c.1109G>A r.(?) p.(Arg370Gln) g.152037647G>A Copied from the Exome Variant Server NSDHL_000013 6/10563 1/6728 5/3835
1 c.*21del r.(=) p.(=) g.152037681del Copied from the Exome Variant Server NSDHL_000014 1/10205 1/6484 0/3721
1 c.*25C>T r.(=) p.(=) g.152037685C>T Copied from the Exome Variant Server NSDHL_000015 2/10563 2/6728 0/3835
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