Full data view for gene LONRF3

Information The variants shown are described using the NM_024778.4 transcript reference sequence.

104 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.-27_-26insT r.(=) p.(=) g.118108717_118108718insT Copied from the Exome Variant Server LONRF3_000001 13/10112 0/6415 13/3697 - - - - - - -
?/? c.-25C>A r.(=) p.(=) g.118108719C>A Copied from the Exome Variant Server LONRF3_000002 2/10485 0/6664 2/3821 - - - - - - -
?/? c.-15C>T r.(=) p.(=) g.118108729C>T Copied from the Exome Variant Server LONRF3_000003 200/10522 5/6692 195/3830 - - - - - - -
?/? c.-13T>C r.(=) p.(=) g.118108731T>C Copied from the Exome Variant Server LONRF3_000004 1/10524 0/6695 1/3829 - - - - - - -
?/? c.15G>A r.(=) p.(=) g.118108758G>A Copied from the Exome Variant Server LONRF3_000005 1/10550 0/6718 1/3832 - - - - - - -
?/? c.39C>T r.(=) p.(=) g.118108782C>T Copied from the Exome Variant Server LONRF3_000006 1/10548 1/6719 0/3829 - - - - - - -
?/? c.42T>C r.(=) p.(=) g.118108785T>C Copied from the Exome Variant Server LONRF3_000007 4073/10547 2862/6716 1211/3831 - - - - - - -
?/? c.68C>T r.(?) p.(Ser23Leu) g.118108811C>T Copied from the Exome Variant Server LONRF3_000008 1/10554 0/6722 1/3832 - - - - - - -
?/? c.137C>G r.(?) p.(Pro46Arg) g.118108880C>G Copied from the Exome Variant Server LONRF3_000009 2/10499 2/6697 0/3802 - - - - - - -
?/? c.149C>T r.(?) p.(Pro50Leu) g.118108892C>T Copied from the Exome Variant Server LONRF3_000010 1/10473 0/6683 1/3790 - - - - - - -
?/? c.162A>G r.(=) p.(=) g.118108905A>G Copied from the Exome Variant Server LONRF3_000011 1/10465 1/6672 0/3793 - - - - - - -
?/? c.355G>A r.(?) p.(Glu119Lys) g.118109098G>A Copied from the Exome Variant Server LONRF3_000012 4/8426 4/5493 0/2933 - - - - - - -
?/? c.365C>G r.(?) p.(Ala122Gly) g.118109108C>G Copied from the Exome Variant Server LONRF3_000013 157/8174 15/5342 142/2832 - - - - - - -
?/? c.427_428insGC r.(?) p.(Ala143Glyfs*61) g.118109170_118109171insGC Copied from the Exome Variant Server LONRF3_000014 323/4871 184/3323 139/1548 - - - - - - -
?/? c.550C>T r.(?) p.(Arg184Cys) g.118109293C>T Copied from the Exome Variant Server LONRF3_000015 1/10386 1/6607 0/3779 - - - - - - -
?/? c.555G>A r.(=) p.(=) g.118109298G>A Copied from the Exome Variant Server LONRF3_000016 1/10380 1/6605 0/3775 - - - - - - -
?/? c.601G>C r.(?) p.(Ala201Pro) g.118109344G>C Copied from the Exome Variant Server LONRF3_000017 2/10414 0/6624 2/3790 - - - - - - -
?/? c.652_653del r.(?) p.(Gln218Alafs*53) g.118109395_118109396del Copied from the Exome Variant Server LONRF3_000018 34/8719 17/5453 17/3266 - - - - - - -
?/? c.654_656del r.(?) p.(Pro222del) g.118109397_118109399del Copied from the Exome Variant Server LONRF3_000019 113/7670 74/4815 39/2855 - - - - - - -
?/? c.660_661insA r.(?) p.(Pro221Thrfs*51) g.118109403_118109404insA Copied from the Exome Variant Server LONRF3_000020 29/8784 9/5539 20/3245 - - - - - - -
?/? c.763C>T r.(?) p.(Arg255Cys) g.118109506C>T Copied from the Exome Variant Server LONRF3_000021 1/10421 0/6641 1/3780 - - - - - - -
?/? c.786A>G r.(=) p.(=) g.118109529A>G Copied from the Exome Variant Server LONRF3_000022 1/10416 1/6632 0/3784 - - - - - - -
?/? c.814T>C r.(=) p.(=) g.118109557T>C Copied from the Exome Variant Server LONRF3_000023 3/10321 0/6571 3/3750 - - - - - - -
?/? c.818-51C>T r.(=) p.(=) g.118112257C>T Copied from the Exome Variant Server LONRF3_000024 10/10562 0/6727 10/3835 - - - - - - -
?/? c.818-44C>T r.(=) p.(=) g.118112264C>T Copied from the Exome Variant Server LONRF3_000025 2/10563 0/6728 2/3835 - - - - - - -
?/? c.818-43G>A r.(=) p.(=) g.118112265G>A Copied from the Exome Variant Server LONRF3_000026 1/10563 0/6728 1/3835 - - - - - - -
?/? c.818-23G>T r.(=) p.(=) g.118112285G>T Copied from the Exome Variant Server LONRF3_000027 1/10563 0/6728 1/3835 - - - - - - -
?/? c.818-15T>G r.(=) p.(=) g.118112293T>G Copied from the Exome Variant Server LONRF3_000028 8/10563 0/6728 8/3835 - - - - - - -
?/? c.818-13C>A r.(=) p.(=) g.118112295C>A Copied from the Exome Variant Server LONRF3_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.818-4A>G r.spl? p.? g.118112304A>G Copied from the Exome Variant Server LONRF3_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.841A>G r.(?) p.(Ser281Gly) g.118112331A>G Copied from the Exome Variant Server LONRF3_000031 1/10563 0/6728 1/3835 - - - - - - -
?/? c.846T>C r.(=) p.(=) g.118112336T>C Copied from the Exome Variant Server LONRF3_000032 117/10563 103/6728 14/3835 - - - - - - -
?/? c.924G>A r.(=) p.(=) g.118112414G>A Copied from the Exome Variant Server LONRF3_000033 11/10563 0/6728 11/3835 - - - - - - -
?/? c.925A>G r.(?) p.(Met309Val) g.118112415A>G Copied from the Exome Variant Server LONRF3_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.936+48T>A r.(=) p.(=) g.118112474T>A Copied from the Exome Variant Server LONRF3_000035 121/10563 1/6728 120/3835 - - - - - - -
?/? c.936+4310G>A r.(=) p.(=) g.118116736G>A Copied from the Exome Variant Server LONRF3_000036 225/10563 2/6728 223/3835 - - - - - - -
?/? c.936+4324T>A r.(=) p.(=) g.118116750T>A Copied from the Exome Variant Server LONRF3_000037 1/10563 0/6728 1/3835 - - - - - - -
?/? c.936+4380C>T r.(=) p.(=) g.118116806C>T Copied from the Exome Variant Server LONRF3_000038 2/10563 0/6728 2/3835 - - - - - - -
?/? c.936+4499A>G r.(=) p.(=) g.118116925A>G Copied from the Exome Variant Server LONRF3_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.936+4525C>T r.(=) p.(=) g.118116951C>T Copied from the Exome Variant Server LONRF3_000040 1/10563 0/6728 1/3835 - - - - - - -
?/? c.936+4526_936+4527del r.(=) p.(=) g.118116952_118116953del Copied from the Exome Variant Server LONRF3_000041 2/10205 1/6484 1/3721 - - - - - - -
?/? c.937-32A>C r.(=) p.(=) g.118123339A>C Copied from the Exome Variant Server LONRF3_000042 1/10563 1/6728 0/3835 - - - - - - -
?/? c.937-28T>C r.(=) p.(=) g.118123343T>C Copied from the Exome Variant Server LONRF3_000043 2/10563 2/6728 0/3835 - - - - - - -
?/? c.950T>G r.(?) p.(Leu317Arg) g.118123384T>G Copied from the Exome Variant Server LONRF3_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.985A>C r.(=) p.(=) g.118123419A>C Copied from the Exome Variant Server LONRF3_000045 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1030G>C r.(?) p.(Asp344His) g.118123464G>C Copied from the Exome Variant Server LONRF3_000046 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1057C>G r.(?) p.(Gln353Glu) g.118123491C>G Copied from the Exome Variant Server LONRF3_000047 14/10563 0/6728 14/3835 - - - - - - -
?/? c.1079G>T r.(?) p.(Trp360Leu) g.118123513G>T Copied from the Exome Variant Server LONRF3_000048 27/10563 0/6728 27/3835 - - - - - - -
?/? c.1118G>T r.(?) p.(Gly373Val) g.118123552G>T Copied from the Exome Variant Server LONRF3_000049 4/10563 0/6728 4/3835 - - - - - - -
?/? c.1130A>G r.(?) p.(Glu377Gly) g.118123564A>G Copied from the Exome Variant Server LONRF3_000051 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1148G>C r.(?) p.(Cys383Ser) g.118123582G>C Copied from the Exome Variant Server LONRF3_000050 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1172C>T r.(?) p.(Thr391Met) g.118123606C>T Copied from the Exome Variant Server LONRF3_000052 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1176G>C r.(=) p.(=) g.118123610G>C Copied from the Exome Variant Server LONRF3_000053 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1201+44C>T r.(=) p.(=) g.118123679C>T Copied from the Exome Variant Server LONRF3_000054 2/10530 0/6706 2/3824 - - - - - - -
?/? c.1201+45G>A r.(=) p.(=) g.118123680G>A Copied from the Exome Variant Server LONRF3_000055 51/10510 1/6694 50/3816 - - - - - - -
?/? c.1202-41G>T r.(=) p.(=) g.118124392G>T Copied from the Exome Variant Server LONRF3_000056 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1202-6T>C r.(=) p.(=) g.118124427T>C Copied from the Exome Variant Server LONRF3_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1202-5C>T r.spl? p.? g.118124428C>T Copied from the Exome Variant Server LONRF3_000058 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1202-4G>A r.spl? p.? g.118124429G>A Copied from the Exome Variant Server LONRF3_000059 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1211C>T r.(?) p.(Thr404Ile) g.118124442C>T Copied from the Exome Variant Server LONRF3_000060 30/10563 1/6728 29/3835 - - - - - - -
?/? c.1257C>T r.(=) p.(=) g.118124488C>T Copied from the Exome Variant Server LONRF3_000061 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1292+25C>G r.(=) p.(=) g.118124548C>G Copied from the Exome Variant Server LONRF3_000062 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1292+42A>G r.(=) p.(=) g.118124565A>G Copied from the Exome Variant Server LONRF3_000063 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1343A>G r.(?) p.(Lys448Arg) g.118140134A>G Copied from the Exome Variant Server LONRF3_000064 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1408-46A>G r.(=) p.(=) g.118143043A>G Copied from the Exome Variant Server LONRF3_000065 5304/10563 2550/6728 2754/3835 - - - - - - -
?/? c.1408-4G>A r.spl? p.? g.118143085G>A Copied from the Exome Variant Server LONRF3_000066 24/10563 0/6728 24/3835 - - - - - - -
?/? c.1428C>T r.(=) p.(=) g.118143109C>T Copied from the Exome Variant Server LONRF3_000067 95/10563 0/6728 95/3835 - - - - - - -
?/? c.1527T>C r.(=) p.(=) g.118143208T>C Copied from the Exome Variant Server LONRF3_000068 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1529+27T>C r.(=) p.(=) g.118143237T>C Copied from the Exome Variant Server LONRF3_000069 65/10563 0/6728 65/3835 - - - - - - -
?/? c.1530-49T>G r.(=) p.(=) g.118145729T>G Copied from the Exome Variant Server LONRF3_000070 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1530-39G>A r.(=) p.(=) g.118145739G>A Copied from the Exome Variant Server LONRF3_000071 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1532T>C r.(?) p.(Leu511Pro) g.118145780T>C Copied from the Exome Variant Server LONRF3_000073 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1568C>T r.(?) p.(Ala523Val) g.118145816C>T Copied from the Exome Variant Server LONRF3_000075 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1593G>A r.(=) p.(=) g.118145841G>A Copied from the Exome Variant Server LONRF3_000077 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1605G>A r.(=) p.(=) g.118145853G>A Copied from the Exome Variant Server LONRF3_000079 15/10563 14/6728 1/3835 - - - - - - -
?/? c.1626T>G r.(?) p.(Ile542Met) g.118145874T>G Copied from the Exome Variant Server LONRF3_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1688+26G>T r.(=) p.(=) g.118145962G>T Copied from the Exome Variant Server LONRF3_000074 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1688+40T>C r.(=) p.(=) g.118145976T>C Copied from the Exome Variant Server LONRF3_000076 253/10563 236/6728 17/3835 - - - - - - -
?/? c.1688+42A>G r.(=) p.(=) g.118145978A>G Copied from the Exome Variant Server LONRF3_000078 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1689-33A>G r.(=) p.(=) g.118146969A>G Copied from the Exome Variant Server LONRF3_000080 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1804C>T r.(?) p.(Arg602Trp) g.118147117C>T Copied from the Exome Variant Server LONRF3_000081 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1821A>T r.(=) p.(=) g.118147134A>T Copied from the Exome Variant Server LONRF3_000082 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1851+6G>T r.(=) p.(=) g.118147170G>T Copied from the Exome Variant Server LONRF3_000083 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1851+25C>T r.(=) p.(=) g.118147189C>T Copied from the Exome Variant Server LONRF3_000084 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1851+48A>T r.(=) p.(=) g.118147212A>T Copied from the Exome Variant Server LONRF3_000085 1/10562 0/6728 1/3834 - - - - - - -
?/? c.1852-43G>A r.(=) p.(=) g.118148127G>A Copied from the Exome Variant Server LONRF3_000086 24/10563 0/6728 24/3835 - - - - - - -
?/? c.1911A>G r.(=) p.(=) g.118148229A>G Copied from the Exome Variant Server LONRF3_000087 5331/10563 2550/6728 2781/3835 - - - - - - -
?/? c.1952G>A r.(?) p.(Arg651Gln) g.118148270G>A Copied from the Exome Variant Server LONRF3_000088 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1980G>A r.(=) p.(=) g.118148298G>A Copied from the Exome Variant Server LONRF3_000089 3/10563 2/6728 1/3835 - - - - - - -
?/? c.1981G>A r.(?) p.(Glu661Lys) g.118148299G>A Copied from the Exome Variant Server LONRF3_000090 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1989C>T r.(=) p.(=) g.118148307C>T Copied from the Exome Variant Server LONRF3_000091 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2001+17A>G r.(=) p.(=) g.118148336A>G Copied from the Exome Variant Server LONRF3_000092 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2002-6T>C r.(=) p.(=) g.118151492T>C Copied from the Exome Variant Server LONRF3_000094 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2063G>A r.(?) p.(Arg688Gln) g.118151559G>A Copied from the Exome Variant Server LONRF3_000096 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2074C>A r.(?) p.(Pro692Thr) g.118151570C>A Copied from the Exome Variant Server LONRF3_000098 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2087T>C r.(?) p.(Met696Thr) g.118151583T>C Copied from the Exome Variant Server LONRF3_000100 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2097A>G r.(=) p.(=) g.118151593A>G Copied from the Exome Variant Server LONRF3_000101 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*13C>T r.(=) p.(=) g.118151666C>T Copied from the Exome Variant Server LONRF3_000102 2/10563 0/6728 2/3835 - - - - - - -
?/? c.*14G>A r.(=) p.(=) g.118151667G>A Copied from the Exome Variant Server LONRF3_000103 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*25C>T r.(=) p.(=) g.118151678C>T Copied from the Exome Variant Server LONRF3_000104 1/10563 0/6728 1/3835 - - - - - - -
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