Full data view for gene PTCHD1

Information The variants shown are described using the NM_173495.2 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.93G>A r.(=) p.(=) g.23353085G>A Copied from the Exome Variant Server PTCHD1_000001 374/10348 122/6621 252/3727 - - - - - - -
?/? c.105C>G r.(?) p.(Ile35Met) g.23353097C>G Copied from the Exome Variant Server PTCHD1_000002 1/10413 1/6656 0/3757 - - - - - - -
?/? c.159G>A r.(=) p.(=) g.23353151G>A Copied from the Exome Variant Server PTCHD1_000003 1/10559 0/6726 1/3833 - - - - - - -
?/? c.163C>T r.(=) p.(=) g.23353155C>T Copied from the Exome Variant Server PTCHD1_000004 1/10560 1/6727 0/3833 - - - - - - -
?/? c.203A>G r.(?) p.(Asn68Ser) g.23353195A>G Copied from the Exome Variant Server PTCHD1_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.217C>T r.(?) p.(Leu73Phe) g.23353209C>T Copied from the Exome Variant Server PTCHD1_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.245G>A r.(?) p.(Arg82His) g.23353237G>A Copied from the Exome Variant Server PTCHD1_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.297C>G r.(=) p.(=) g.23353289C>G Copied from the Exome Variant Server PTCHD1_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.305A>G r.(?) p.(Gln102Arg) g.23353297A>G Copied from the Exome Variant Server PTCHD1_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.307A>G r.(?) p.(Lys103Glu) g.23353299A>G Copied from the Exome Variant Server PTCHD1_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.319C>T r.(=) p.(=) g.23353311C>T Copied from the Exome Variant Server PTCHD1_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.336C>T r.(=) p.(=) g.23353328C>T Copied from the Exome Variant Server PTCHD1_000012 3/10563 1/6728 2/3835 - - - - - - -
?/? c.351+44C>T r.(=) p.(=) g.23353387C>T Copied from the Exome Variant Server PTCHD1_000013 1/10508 0/6703 1/3805 - - - - - - -
?/? c.351+51G>T r.(=) p.(=) g.23353394G>T Copied from the Exome Variant Server PTCHD1_000014 107/10460 97/6667 10/3793 - - - - - - -
?/? c.352-48A>G r.(=) p.(=) g.23397660A>G Copied from the Exome Variant Server PTCHD1_000015 2/10470 0/6682 2/3788 - - - - - - -
?/? c.352-19T>A r.(=) p.(=) g.23397689T>A Copied from the Exome Variant Server PTCHD1_000016 1/10560 1/6727 0/3833 - - - - - - -
?/? c.352-16del r.(=) p.(=) g.23397692del Copied from the Exome Variant Server PTCHD1_000017 10/10204 5/6483 5/3721 - - - - - - -
?/? c.363T>C r.(=) p.(=) g.23397719T>C Copied from the Exome Variant Server PTCHD1_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.456C>T r.(=) p.(=) g.23397812C>T Copied from the Exome Variant Server PTCHD1_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.471G>A r.(=) p.(=) g.23397827G>A Copied from the Exome Variant Server PTCHD1_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.517A>G r.(?) p.(Ile173Val) g.23397873A>G Copied from the Exome Variant Server PTCHD1_000025 4/10563 4/6728 0/3835 - - - - - - -
?/? c.657C>T r.(=) p.(=) g.23398013C>T Copied from the Exome Variant Server PTCHD1_000027 27/10563 23/6728 4/3835 - - - - - - -
?/? c.745A>C r.(?) p.(Met249Leu) g.23398101A>C Copied from the Exome Variant Server PTCHD1_000029 2/10563 2/6728 0/3835 - - - - - - -
?/? c.751C>T r.(?) p.(Pro251Ser) g.23398107C>T Copied from the Exome Variant Server PTCHD1_000031 1/10563 1/6728 0/3835 - - - - - - -
?/? c.786G>A r.(=) p.(=) g.23398142G>A Copied from the Exome Variant Server PTCHD1_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.796C>T r.(?) p.(Arg266Cys) g.23398152C>T Copied from the Exome Variant Server PTCHD1_000018 1/10563 0/6728 1/3835 - - - - - - -
?/? c.798C>T r.(=) p.(=) g.23398154C>T Copied from the Exome Variant Server PTCHD1_000020 1/10563 0/6728 1/3835 - - - - - - -
?/? c.799G>A r.(?) p.(Val267Ile) g.23398155G>A Copied from the Exome Variant Server PTCHD1_000022 2/10563 0/6728 2/3835 - - - - - - -
?/? c.852C>G r.(?) p.(Ile284Met) g.23398208C>G Copied from the Exome Variant Server PTCHD1_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.858T>C r.(=) p.(=) g.23398214T>C Copied from the Exome Variant Server PTCHD1_000026 7469/10563 4118/6728 3351/3835 - - - - - - -
?/? c.988C>T r.(=) p.(=) g.23398344C>T Copied from the Exome Variant Server PTCHD1_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1012+5T>C r.spl? p.? g.23398373T>C Copied from the Exome Variant Server PTCHD1_000030 6/10563 5/6728 1/3835 - - - - - - -
?/? c.1012+39G>A r.(=) p.(=) g.23398407G>A Copied from the Exome Variant Server PTCHD1_000032 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1013-26G>C r.(=) p.(=) g.23410622G>C Copied from the Exome Variant Server PTCHD1_000034 121/10563 64/6728 57/3835 - - - - - - -
?/? c.1013-12C>G r.(=) p.(=) g.23410636C>G Copied from the Exome Variant Server PTCHD1_000035 13/10563 10/6728 3/3835 - - - - - - -
?/? c.1080T>G r.(=) p.(=) g.23410715T>G Copied from the Exome Variant Server PTCHD1_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1110C>G r.(?) p.(Asp370Glu) g.23410745C>G Copied from the Exome Variant Server PTCHD1_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1187T>C r.(?) p.(Ile396Thr) g.23410822T>C Copied from the Exome Variant Server PTCHD1_000038 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1228A>G r.(?) p.(Ile410Val) g.23410863A>G Copied from the Exome Variant Server PTCHD1_000039 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1257G>A r.(=) p.(=) g.23410892G>A Copied from the Exome Variant Server PTCHD1_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1311T>C r.(=) p.(=) g.23410946T>C Copied from the Exome Variant Server PTCHD1_000041 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1332C>T r.(=) p.(=) g.23410967C>T Copied from the Exome Variant Server PTCHD1_000042 7/10563 0/6728 7/3835 - - - - - - -
?/? c.1346C>A r.(?) p.(Ala449Glu) g.23410981C>A Copied from the Exome Variant Server PTCHD1_000043 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1417G>A r.(?) p.(Glu473Lys) g.23411052G>A Copied from the Exome Variant Server PTCHD1_000044 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1469A>G r.(?) p.(Tyr490Cys) g.23411104A>G Copied from the Exome Variant Server PTCHD1_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1473C>T r.(=) p.(=) g.23411108C>T Copied from the Exome Variant Server PTCHD1_000046 6/10563 6/6728 0/3835 - - - - - - -
?/? c.1600A>G r.(?) p.(Thr534Ala) g.23411235A>G Copied from the Exome Variant Server PTCHD1_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1614C>G r.(=) p.(=) g.23411249C>G Copied from the Exome Variant Server PTCHD1_000048 5/10563 0/6728 5/3835 - - - - - - -
?/? c.1624A>T r.(?) p.(Thr542Ser) g.23411259A>T Copied from the Exome Variant Server PTCHD1_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1665G>A r.(=) p.(=) g.23411300G>A Copied from the Exome Variant Server PTCHD1_000050 5/10563 5/6728 0/3835 - - - - - - -
?/? c.1767G>A r.(=) p.(=) g.23411402G>A Copied from the Exome Variant Server PTCHD1_000051 2/10561 0/6726 2/3835 - - - - - - -
?/? c.1834A>G r.(?) p.(Met612Val) g.23411469A>G Copied from the Exome Variant Server PTCHD1_000052 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1871C>T r.(?) p.(Ser624Leu) g.23411506C>T Copied from the Exome Variant Server PTCHD1_000053 1/10551 1/6722 0/3829 - - - - - - -
?/? c.1957A>G r.(?) p.(Thr653Ala) g.23411592A>G Copied from the Exome Variant Server PTCHD1_000054 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1958C>G r.(?) p.(Thr653Ser) g.23411593C>G Copied from the Exome Variant Server PTCHD1_000055 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2031G>T r.(=) p.(=) g.23411666G>T Copied from the Exome Variant Server PTCHD1_000056 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2041G>A r.(?) p.(Val681Ile) g.23411676G>A Copied from the Exome Variant Server PTCHD1_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2066T>C r.(?) p.(Met689Thr) g.23411701T>C Copied from the Exome Variant Server PTCHD1_000058 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2166G>A r.(=) p.(=) g.23411801G>A Copied from the Exome Variant Server PTCHD1_000059 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2200G>A r.(?) p.(Val734Met) g.23411835G>A Copied from the Exome Variant Server PTCHD1_000060 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2353A>G r.(?) p.(Lys785Glu) g.23411988A>G Copied from the Exome Variant Server PTCHD1_000061 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2370C>A r.(=) p.(=) g.23412005C>A Copied from the Exome Variant Server PTCHD1_000062 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2508T>A r.(?) p.(Phe836Leu) g.23412143T>A Copied from the Exome Variant Server PTCHD1_000063 3/10563 0/6728 3/3835 - - - - - - -
?/? c.*5G>C r.(=) p.(=) g.23412307G>C Copied from the Exome Variant Server PTCHD1_000064 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*13G>A r.(=) p.(=) g.23412315G>A Copied from the Exome Variant Server PTCHD1_000065 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*31G>C r.(=) p.(=) g.23412333G>C Copied from the Exome Variant Server PTCHD1_000066 1/10558 1/6724 0/3834 - - - - - - -
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