Full data view for gene HEPH

Information The variants shown are described using the NM_138737.3 transcript reference sequence.

170 entries on 2 pages. Showing entries 1 - 100.
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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.116T>C r.(?) p.(Val39Ala) g.65382685T>C Copied from the Exome Variant Server HEPH_000001 2817/3600 1647/2391 1170/1209 - - - - - - -
?/? c.150A>C r.(?) p.(Lys50Asn) g.65390400A>C Copied from the Exome Variant Server HEPH_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.211T>C r.(?) p.(Trp71Arg) g.65390461T>C Copied from the Exome Variant Server HEPH_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.303C>G r.(?) p.(Ile101Met) g.65390553C>G Copied from the Exome Variant Server HEPH_000004 1/10563 0/6728 1/3835 - - - - - - -
?/? c.305C>T r.(?) p.(Thr102Met) g.65390555C>T Copied from the Exome Variant Server HEPH_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.329+14C>A r.(=) p.(=) g.65390593C>A Copied from the Exome Variant Server HEPH_000006 685/10563 0/6728 685/3835 - - - - - - -
?/? c.329+45A>T r.(=) p.(=) g.65390624A>T Copied from the Exome Variant Server HEPH_000007 1/10562 1/6728 0/3834 - - - - - - -
?/? c.330-40G>T r.(=) p.(=) g.65392157G>T Copied from the Exome Variant Server HEPH_000008 4/10561 0/6726 4/3835 - - - - - - -
?/? c.330-23T>C r.(=) p.(=) g.65392174T>C Copied from the Exome Variant Server HEPH_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.330-16T>C r.(=) p.(=) g.65392181T>C Copied from the Exome Variant Server HEPH_000010 4476/10563 1515/6728 2961/3835 - - - - - - -
?/? c.330-11T>C r.(=) p.(=) g.65392186T>C Copied from the Exome Variant Server HEPH_000011 5/10563 0/6728 5/3835 - - - - - - -
?/? c.333G>A r.(=) p.(=) g.65392200G>A Copied from the Exome Variant Server HEPH_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.391A>G r.(?) p.(Ile131Val) g.65392258A>G Copied from the Exome Variant Server HEPH_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.407A>G r.(?) p.(Lys136Arg) g.65392274A>G Copied from the Exome Variant Server HEPH_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.521C>G r.(?) p.(Thr174Ser) g.65392388C>G Copied from the Exome Variant Server HEPH_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.524G>A r.(?) p.(Arg175His) g.65392391G>A Copied from the Exome Variant Server HEPH_000016 1/10563 1/6728 0/3835 - - - - - - -
?/? c.575-48C>T r.(=) p.(=) g.65393383C>T Copied from the Exome Variant Server HEPH_000017 1/10557 0/6724 1/3833 - - - - - - -
?/? c.575-28G>A r.(=) p.(=) g.65393403G>A Copied from the Exome Variant Server HEPH_000018 1/10562 0/6727 1/3835 - - - - - - -
?/? c.670G>A r.(?) p.(Gly224Ser) g.65393526G>A Copied from the Exome Variant Server HEPH_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.684C>T r.(=) p.(=) g.65393540C>T Copied from the Exome Variant Server HEPH_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.787+7G>A r.(=) p.(=) g.65393650G>A Copied from the Exome Variant Server HEPH_000022 1/10549 1/6716 0/3833 - - - - - - -
?/? c.788-38A>G r.(=) p.(=) g.65408163A>G Copied from the Exome Variant Server HEPH_000024 3/10466 2/6659 1/3807 - - - - - - -
?/? c.929A>G r.(?) p.(Asp310Gly) g.65408342A>G Copied from the Exome Variant Server HEPH_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.970+3G>C r.spl? p.? g.65408386G>C Copied from the Exome Variant Server HEPH_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.970+11A>G r.(=) p.(=) g.65408394A>G Copied from the Exome Variant Server HEPH_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.970+15G>T r.(=) p.(=) g.65408398G>T Copied from the Exome Variant Server HEPH_000021 4/10563 0/6728 4/3835 - - - - - - -
?/? c.970+16G>A r.(=) p.(=) g.65408399G>A Copied from the Exome Variant Server HEPH_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.970+42G>C r.(=) p.(=) g.65408425G>C Copied from the Exome Variant Server HEPH_000025 2/10563 2/6728 0/3835 - - - - - - -
?/? c.970+45G>A r.(=) p.(=) g.65408428G>A Copied from the Exome Variant Server HEPH_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.970+62C>T r.(=) p.(=) g.65408445C>T Copied from the Exome Variant Server HEPH_000029 1176/3600 554/2391 622/1209 - - - - - - -
?/? c.971-26T>C r.(=) p.(=) g.65409500T>C Copied from the Exome Variant Server HEPH_000031 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1030G>A r.(?) p.(Val344Met) g.65409585G>A Copied from the Exome Variant Server HEPH_000032 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1033G>A r.(?) p.(Ala345Thr) g.65409588G>A Copied from the Exome Variant Server HEPH_000033 19/10563 0/6728 19/3835 - - - - - - -
?/? c.1075A>G r.(?) p.(Thr359Ala) g.65409630A>G Copied from the Exome Variant Server HEPH_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1107C>A r.(=) p.(=) g.65409662C>A Copied from the Exome Variant Server HEPH_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1197T>C r.(=) p.(=) g.65409752T>C Copied from the Exome Variant Server HEPH_000036 12/10556 0/6723 12/3833 - - - - - - -
?/? c.1203C>T r.(=) p.(=) g.65409758C>T Copied from the Exome Variant Server HEPH_000037 1/10552 1/6719 0/3833 - - - - - - -
?/? c.1223G>A r.(?) p.(Arg408Gln) g.65409778G>A Copied from the Exome Variant Server HEPH_000038 1/10526 1/6702 0/3824 - - - - - - -
?/? c.1225+36A>C r.(=) p.(=) g.65409816A>C Copied from the Exome Variant Server HEPH_000039 1/10382 1/6596 0/3786 - - - - - - -
?/? c.1225+42G>A r.(=) p.(=) g.65409822G>A Copied from the Exome Variant Server HEPH_000040 5/10354 4/6572 1/3782 - - - - - - -
?/? c.1226-17T>C r.(=) p.(=) g.65411955T>C Copied from the Exome Variant Server HEPH_000041 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1230C>A r.(=) p.(=) g.65411976C>A Copied from the Exome Variant Server HEPH_000042 32/10563 32/6728 0/3835 - - - - - - -
?/? c.1262C>T r.(?) p.(Ser421Phe) g.65412008C>T Copied from the Exome Variant Server HEPH_000043 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1292G>A r.(?) p.(Gly431Asp) g.65412038G>A Copied from the Exome Variant Server HEPH_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1301G>A r.(?) p.(Arg434Gln) g.65412047G>A Copied from the Exome Variant Server HEPH_000045 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1386G>A r.(=) p.(=) g.65412132G>A Copied from the Exome Variant Server HEPH_000046 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1394+8G>A r.(=) p.(=) g.65412148G>A Copied from the Exome Variant Server HEPH_000047 708/10563 2/6728 706/3835 - - - - - - -
?/? c.1394+22C>T r.(=) p.(=) g.65412162C>T Copied from the Exome Variant Server HEPH_000048 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1394+28A>G r.(=) p.(=) g.65412168A>G Copied from the Exome Variant Server HEPH_000049 44/10563 0/6728 44/3835 - - - - - - -
?/? c.1479G>A r.(=) p.(=) g.65413428G>A Copied from the Exome Variant Server HEPH_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1505A>G r.(?) p.(Glu502Gly) g.65413454A>G Copied from the Exome Variant Server HEPH_000051 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1512T>C r.(=) p.(=) g.65413461T>C Copied from the Exome Variant Server HEPH_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1531+6G>C r.(=) p.(=) g.65413486G>C Copied from the Exome Variant Server HEPH_000053 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1531+48T>C r.(=) p.(=) g.65413528T>C Copied from the Exome Variant Server HEPH_000054 1/10518 1/6688 0/3830 - - - - - - -
?/? c.1532-32C>G r.(=) p.(=) g.65414908C>G Copied from the Exome Variant Server HEPH_000055 51/10563 50/6728 1/3835 - - - - - - -
?/? c.1532-25A>G r.(=) p.(=) g.65414915A>G Copied from the Exome Variant Server HEPH_000056 14/10563 6/6728 8/3835 - - - - - - -
?/? c.1583A>G r.(?) p.(Asn528Ser) g.65414991A>G Copied from the Exome Variant Server HEPH_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1594C>T r.(?) p.(Gln532*) g.65415002C>T Copied from the Exome Variant Server HEPH_000058 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1663+10C>A r.(=) p.(=) g.65415081C>A Copied from the Exome Variant Server HEPH_000059 1/10562 0/6728 1/3834 - - - - - - -
?/? c.1663+14G>T r.(=) p.(=) g.65415085G>T Copied from the Exome Variant Server HEPH_000060 1/10562 1/6728 0/3834 - - - - - - -
?/? c.1664-37G>A r.(=) p.(=) g.65417488G>A Copied from the Exome Variant Server HEPH_000061 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1664-31C>T r.(=) p.(=) g.65417494C>T Copied from the Exome Variant Server HEPH_000062 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1664-8C>T r.(=) p.(=) g.65417517C>T Copied from the Exome Variant Server HEPH_000063 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1664-5T>C r.spl? p.? g.65417520T>C Copied from the Exome Variant Server HEPH_000064 6/10563 4/6728 2/3835 - - - - - - -
?/? c.1664-3C>T r.spl? p.? g.65417522C>T Copied from the Exome Variant Server HEPH_000065 32/10563 0/6728 32/3835 - - - - - - -
?/? c.1678G>C r.(?) p.(Gly560Arg) g.65417539G>C Copied from the Exome Variant Server HEPH_000066 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1693C>T r.(?) p.(Pro565Ser) g.65417554C>T Copied from the Exome Variant Server HEPH_000067 14/10563 13/6728 1/3835 - - - - - - -
?/? c.1699G>A r.(?) p.(Glu567Lys) g.65417560G>A Copied from the Exome Variant Server HEPH_000068 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1701G>C r.(?) p.(Glu567Asp) g.65417562G>C Copied from the Exome Variant Server HEPH_000069 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1715G>A r.(?) p.(Arg572His) g.65417576G>A Copied from the Exome Variant Server HEPH_000071 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1728C>A r.(=) p.(=) g.65417589C>A Copied from the Exome Variant Server HEPH_000073 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1737C>T r.(=) p.(=) g.65417598C>T Copied from the Exome Variant Server HEPH_000075 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1795C>T r.(?) p.(Pro599Ser) g.65417656C>T Copied from the Exome Variant Server HEPH_000077 16/10563 0/6728 16/3835 - - - - - - -
?/? c.1802G>A r.(?) p.(Arg601Lys) g.65417663G>A Copied from the Exome Variant Server HEPH_000079 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1830G>A r.(=) p.(=) g.65417691G>A Copied from the Exome Variant Server HEPH_000081 15/10562 0/6727 15/3835 - - - - - - -
?/? c.1851T>C r.(=) p.(=) g.65417712T>C Copied from the Exome Variant Server HEPH_000070 6/10558 0/6723 6/3835 - - - - - - -
?/? c.1858G>A r.(?) p.(Gly620Ser) g.65417719G>A Copied from the Exome Variant Server HEPH_000072 55/10558 48/6723 7/3835 - - - - - - -
?/? c.1875+12G>T r.(=) p.(=) g.65417748G>T Copied from the Exome Variant Server HEPH_000074 17/10538 16/6706 1/3832 - - - - - - -
?/? c.1896C>A r.(?) p.(Phe632Leu) g.65418740C>A Copied from the Exome Variant Server HEPH_000076 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1945G>A r.(?) p.(Ala649Thr) g.65418789G>A Copied from the Exome Variant Server HEPH_000078 212/10563 197/6728 15/3835 - - - - - - -
?/? c.1960G>T r.(?) p.(Ala654Ser) g.65418804G>T Copied from the Exome Variant Server HEPH_000080 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2017C>T r.(?) p.(Arg673Trp) g.65418861C>T Copied from the Exome Variant Server HEPH_000082 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2026+23G>C r.(=) p.(=) g.65418893G>C Copied from the Exome Variant Server HEPH_000083 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2026+35G>A r.(=) p.(=) g.65418905G>A Copied from the Exome Variant Server HEPH_000084 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2027-48G>A r.(=) p.(=) g.65420334G>A Copied from the Exome Variant Server HEPH_000085 2/10460 0/6662 2/3798 - - - - - - -
?/? c.2027-40G>A r.(=) p.(=) g.65420342G>A Copied from the Exome Variant Server HEPH_000086 2/10483 2/6673 0/3810 - - - - - - -
?/? c.2052C>T r.(=) p.(=) g.65420407C>T Copied from the Exome Variant Server HEPH_000087 10/10563 10/6728 0/3835 - - - - - - -
?/? c.2104G>A r.(?) p.(Gly702Ser) g.65420459G>A Copied from the Exome Variant Server HEPH_000088 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2136C>T r.(=) p.(=) g.65420491C>T Copied from the Exome Variant Server HEPH_000089 17/10563 0/6728 17/3835 - - - - - - -
?/? c.2239+15A>G r.(=) p.(=) g.65420609A>G Copied from the Exome Variant Server HEPH_000090 10089/10563 6297/6728 3792/3835 - - - - - - -
?/? c.2239+44G>C r.(=) p.(=) g.65420638G>C Copied from the Exome Variant Server HEPH_000091 3/10563 3/6728 0/3835 - - - - - - -
?/? c.2239+50G>T r.(=) p.(=) g.65420644G>T Copied from the Exome Variant Server HEPH_000092 1/10562 1/6727 0/3835 - - - - - - -
?/? c.2251A>C r.(?) p.(Ile751Leu) g.65423217A>C Copied from the Exome Variant Server HEPH_000093 16/10563 14/6728 2/3835 - - - - - - -
?/? c.2270G>A r.(?) p.(Ser757Asn) g.65423236G>A Copied from the Exome Variant Server HEPH_000094 9/10563 9/6728 0/3835 - - - - - - -
?/? c.2274T>C r.(=) p.(=) g.65423240T>C Copied from the Exome Variant Server HEPH_000095 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2326C>A r.(?) p.(Gln776Lys) g.65423292C>A Copied from the Exome Variant Server HEPH_000096 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2339G>A r.(?) p.(Arg780His) g.65423305G>A Copied from the Exome Variant Server HEPH_000098 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2340C>T r.(=) p.(=) g.65423306C>T Copied from the Exome Variant Server HEPH_000100 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2378C>G r.(?) p.(Ala793Gly) g.65423344C>G Copied from the Exome Variant Server HEPH_000102 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2410C>T r.(?) p.(Arg804Trp) g.65423376C>T Copied from the Exome Variant Server HEPH_000104 1/10563 0/6728 1/3835 - - - - - - -
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