Full data view for gene XRN2

Information The variants shown are described using the NM_012255.3 transcript reference sequence.

194 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.-33C>T r.(=) p.(=) g.21284004C>T Copied from the Exome Variant Server XRN2_000001 50/9596 0/6228 50/3368 - - - - - - -
?/? c.76-28_76-27insC r.(=) p.(=) g.21306889_21306890insC Copied from the Exome Variant Server XRN2_000002 1/12518 1/8254 0/4264 - - - - - - -
?/? c.76-22A>G r.(=) p.(=) g.21306895A>G Copied from the Exome Variant Server XRN2_000003 4/13006 0/8600 4/4406 - - - - - - -
?/? c.86G>A r.(?) p.(Cys29Tyr) g.21306927G>A Copied from the Exome Variant Server XRN2_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.203+10C>T r.(=) p.(=) g.21307054C>T Copied from the Exome Variant Server XRN2_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.203+12A>T r.(=) p.(=) g.21307056A>T Copied from the Exome Variant Server XRN2_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.203+27A>G r.(=) p.(=) g.21307071A>G Copied from the Exome Variant Server XRN2_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.204-28A>G r.(=) p.(=) g.21307100A>G Copied from the Exome Variant Server XRN2_000008 4/13006 0/8600 4/4406 - - - - - - -
?/? c.204-21A>G r.(=) p.(=) g.21307107A>G Copied from the Exome Variant Server XRN2_000009 7959/13006 5659/8600 2300/4406 - - - - - - -
?/? c.204-7A>C r.(=) p.(=) g.21307121A>C Copied from the Exome Variant Server XRN2_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.209C>T r.(?) p.(Ala70Val) g.21307133C>T Copied from the Exome Variant Server XRN2_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.238G>T r.(?) p.(Ala80Ser) g.21307162G>T Copied from the Exome Variant Server XRN2_000012 72/13006 0/8600 72/4406 - - - - - - -
?/? c.251A>C r.(?) p.(Tyr84Ser) g.21307175A>C Copied from the Exome Variant Server XRN2_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.303A>C r.(=) p.(=) g.21307227A>C Copied from the Exome Variant Server XRN2_000014 17/13006 0/8600 17/4406 - - - - - - -
?/? c.315+8C>T r.(=) p.(=) g.21307247C>T Copied from the Exome Variant Server XRN2_000015 2/13004 1/8598 1/4406 - - - - - - -
?/? c.315+28C>T r.(=) p.(=) g.21307267C>T Copied from the Exome Variant Server XRN2_000016 1/13000 0/8598 1/4402 - - - - - - -
?/? c.315+34_315+35insT r.(=) p.(=) g.21307273_21307274insT Copied from the Exome Variant Server XRN2_000017 385/12466 290/8230 95/4236 - - - - - - -
?/? c.418T>C r.(=) p.(=) g.21309299T>C Copied from the Exome Variant Server XRN2_000018 2/13006 0/8600 2/4406 - - - - - - -
?/? c.428-50A>G r.(=) p.(=) g.21311069A>G Copied from the Exome Variant Server XRN2_000019 8/13004 0/8600 8/4404 - - - - - - -
?/? c.428-18G>A r.(=) p.(=) g.21311101G>A Copied from the Exome Variant Server XRN2_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.428-13C>A r.(=) p.(=) g.21311106C>A Copied from the Exome Variant Server XRN2_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.487-19T>G r.(=) p.(=) g.21311235T>G Copied from the Exome Variant Server XRN2_000022 1/13004 1/8600 0/4404 - - - - - - -
?/? c.493G>A r.(?) p.(Glu165Lys) g.21311260G>A Copied from the Exome Variant Server XRN2_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.522T>C r.(=) p.(=) g.21311289T>C Copied from the Exome Variant Server XRN2_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.547A>G r.(?) p.(Asn183Asp) g.21311314A>G Copied from the Exome Variant Server XRN2_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.576+10A>T r.(=) p.(=) g.21311353A>T Copied from the Exome Variant Server XRN2_000026 2/13006 0/8600 2/4406 - - - - - - -
?/? c.577-46A>G r.(=) p.(=) g.21312153A>G Copied from the Exome Variant Server XRN2_000027 1/12976 1/8574 0/4402 - - - - - - -
?/? c.577-5_577-4insA r.spl? p.? g.21312194_21312195insA Copied from the Exome Variant Server XRN2_000028 20/12500 0/8238 20/4262 - - - - - - -
?/? c.636T>C r.(=) p.(=) g.21312258T>C Copied from the Exome Variant Server XRN2_000029 44/13004 0/8598 44/4406 - - - - - - -
?/? c.649+11C>T r.(=) p.(=) g.21312282C>T Copied from the Exome Variant Server XRN2_000030 126/13004 1/8598 125/4406 - - - - - - -
?/? c.649+14A>G r.(=) p.(=) g.21312285A>G Copied from the Exome Variant Server XRN2_000031 4/13006 4/8600 0/4406 - - - - - - -
?/? c.649+15C>T r.(=) p.(=) g.21312286C>T Copied from the Exome Variant Server XRN2_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.649+17A>G r.(=) p.(=) g.21312288A>G Copied from the Exome Variant Server XRN2_000033 1873/13006 1601/8600 272/4406 - - - - - - -
?/? c.649+54G>A r.(=) p.(=) g.21312325G>A Copied from the Exome Variant Server XRN2_000034 157/4566 142/3182 15/1384 - - - - - - -
?/? c.650-42_650-38del r.(=) p.(=) g.21312364_21312368del Copied from the Exome Variant Server XRN2_000035 24/12504 12/8246 12/4258 - - - - - - -
?/? c.650-40A>G r.(=) p.(=) g.21312366A>G Copied from the Exome Variant Server XRN2_000036 7/12998 0/8594 7/4404 - - - - - - -
?/? c.650-8_650-7del r.(=) p.(=) g.21312398_21312399del Copied from the Exome Variant Server XRN2_000037 1/12518 1/8254 0/4264 - - - - - - -
?/? c.700+41C>T r.(=) p.(=) g.21312497C>T Copied from the Exome Variant Server XRN2_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.700+67A>G r.(=) p.(=) g.21312523A>G Copied from the Exome Variant Server XRN2_000039 1/4566 1/3182 0/1384 - - - - - - -
?/? c.701-48C>T r.(=) p.(=) g.21312873C>T Copied from the Exome Variant Server XRN2_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.701-28C>G r.(=) p.(=) g.21312893C>G Copied from the Exome Variant Server XRN2_000041 878/13006 453/8600 425/4406 - - - - - - -
?/? c.701-27G>A r.(=) p.(=) g.21312894G>A Copied from the Exome Variant Server XRN2_000042 2/13006 0/8600 2/4406 - - - - - - -
?/? c.701-24_701-23insT r.(=) p.(=) g.21312897_21312898insT Copied from the Exome Variant Server XRN2_000043 11/12518 10/8254 1/4264 - - - - - - -
?/? c.701-15_701-13del r.(=) p.(=) g.21312906_21312908del Copied from the Exome Variant Server XRN2_000044 1/12518 0/8254 1/4264 - - - - - - -
?/? c.701-6T>G r.(=) p.(=) g.21312915T>G Copied from the Exome Variant Server XRN2_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.737C>T r.(?) p.(Pro246Leu) g.21312957C>T Copied from the Exome Variant Server XRN2_000046 2/13006 1/8600 1/4406 - - - - - - -
?/? c.774C>T r.(=) p.(=) g.21312994C>T Copied from the Exome Variant Server XRN2_000047 7/13006 0/8600 7/4406 - - - - - - -
?/? c.824A>T r.(?) p.(Asp275Val) g.21313044A>T Copied from the Exome Variant Server XRN2_000048 8/13006 0/8600 8/4406 - - - - - - -
?/? c.858+30T>C r.(=) p.(=) g.21313108T>C Copied from the Exome Variant Server XRN2_000049 6/13004 3/8598 3/4406 - - - - - - -
?/? c.858+45T>G r.(=) p.(=) g.21313123T>G Copied from the Exome Variant Server XRN2_000050 2/12994 2/8592 0/4402 - - - - - - -
?/? c.858+46A>G r.(=) p.(=) g.21313124A>G Copied from the Exome Variant Server XRN2_000051 1/12994 1/8592 0/4402 - - - - - - -
?/? c.859-41C>T r.(=) p.(=) g.21314141C>T Copied from the Exome Variant Server XRN2_000052 67/13006 2/8600 65/4406 - - - - - - -
?/? c.859-40G>C r.(=) p.(=) g.21314142G>C Copied from the Exome Variant Server XRN2_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.859-35G>A r.(=) p.(=) g.21314147G>A Copied from the Exome Variant Server XRN2_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.859-10G>A r.(=) p.(=) g.21314172G>A Copied from the Exome Variant Server XRN2_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.859-6T>G r.(=) p.(=) g.21314176T>G Copied from the Exome Variant Server XRN2_000056 612/13006 451/8600 161/4406 - - - - - - -
?/? c.861T>C r.(=) p.(=) g.21314184T>C Copied from the Exome Variant Server XRN2_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.874G>A r.(?) p.(Asp292Asn) g.21314197G>A Copied from the Exome Variant Server XRN2_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.914G>A r.(?) p.(Arg305Gln) g.21314237G>A Copied from the Exome Variant Server XRN2_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.933+16del r.(=) p.(=) g.21314272del Copied from the Exome Variant Server XRN2_000060 1/12518 1/8254 0/4264 - - - - - - -
?/? c.934-21A>G r.(=) p.(=) g.21314321A>G Copied from the Exome Variant Server XRN2_000061 76/13006 1/8600 75/4406 - - - - - - -
?/? c.990G>A r.(=) p.(=) g.21314398G>A Copied from the Exome Variant Server XRN2_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1006G>A r.(?) p.(Val336Ile) g.21314414G>A Copied from the Exome Variant Server XRN2_000063 19/13006 17/8600 2/4406 - - - - - - -
?/? c.1056G>A r.(=) p.(=) g.21314464G>A Copied from the Exome Variant Server XRN2_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1067+4T>A r.spl? p.? g.21314479T>A Copied from the Exome Variant Server XRN2_000065 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1067+34del r.(=) p.(=) g.21314509del Copied from the Exome Variant Server XRN2_000066 5/12516 3/8252 2/4264 - - - - - - -
?/? c.1068-35G>A r.(=) p.(=) g.21314540G>A Copied from the Exome Variant Server XRN2_000067 232/13006 1/8600 231/4406 - - - - - - -
?/? c.1078A>G r.(?) p.(Ile360Val) g.21314585A>G Copied from the Exome Variant Server XRN2_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1085G>A r.(?) p.(Arg362His) g.21314592G>A Copied from the Exome Variant Server XRN2_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1125+4A>G r.spl? p.? g.21314636A>G Copied from the Exome Variant Server XRN2_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1125+23T>A r.(=) p.(=) g.21314655T>A Copied from the Exome Variant Server XRN2_000071 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1125+42T>G r.(=) p.(=) g.21314674T>G Copied from the Exome Variant Server XRN2_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1126-30A>T r.(=) p.(=) g.21314686A>T Copied from the Exome Variant Server XRN2_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1127G>A r.(?) p.(Gly376Asp) g.21314717G>A Copied from the Exome Variant Server XRN2_000074 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1142G>C r.(?) p.(Ser381Thr) g.21314732G>C Copied from the Exome Variant Server XRN2_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1173G>C r.(?) p.(Met391Ile) g.21314763G>C Copied from the Exome Variant Server XRN2_000076 7/13006 7/8600 0/4406 - - - - - - -
?/? c.1229A>G r.(?) p.(Asp410Gly) g.21314819A>G Copied from the Exome Variant Server XRN2_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1233+33C>T r.(=) p.(=) g.21314856C>T Copied from the Exome Variant Server XRN2_000078 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1234-23_1234-22insT r.(=) p.(=) g.21319659_21319660insT Copied from the Exome Variant Server XRN2_000079 1/12516 1/8252 0/4264 - - - - - - -
?/? c.1234-3T>C r.spl? p.? g.21319679T>C Copied from the Exome Variant Server XRN2_000080 2/13004 2/8598 0/4406 - - - - - - -
?/? c.1278+20A>G r.(=) p.(=) g.21319746A>G Copied from the Exome Variant Server XRN2_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1278+36C>T r.(=) p.(=) g.21319762C>T Copied from the Exome Variant Server XRN2_000083 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1278+37G>A r.(=) p.(=) g.21319763G>A Copied from the Exome Variant Server XRN2_000085 1/13000 0/8596 1/4404 - - - - - - -
?/? c.1279-49C>T r.(=) p.(=) g.21321310C>T Copied from the Exome Variant Server XRN2_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1279-25T>C r.(=) p.(=) g.21321334T>C Copied from the Exome Variant Server XRN2_000089 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1279A>G r.(?) p.(Arg427Gly) g.21321359A>G Copied from the Exome Variant Server XRN2_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1283A>T r.(?) p.(Asp428Val) g.21321363A>T Copied from the Exome Variant Server XRN2_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1325C>T r.(?) p.(Ala442Val) g.21321405C>T Copied from the Exome Variant Server XRN2_000095 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1363A>G r.(?) p.(Ser455Gly) g.21321443A>G Copied from the Exome Variant Server XRN2_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1370C>T r.(?) p.(Pro457Leu) g.21321450C>T Copied from the Exome Variant Server XRN2_000099 11/13006 9/8600 2/4406 - - - - - - -
?/? c.1371G>A r.(=) p.(=) g.21321451G>A Copied from the Exome Variant Server XRN2_000101 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1398G>A r.(?) p.(Met466Ile) g.21321478G>A Copied from the Exome Variant Server XRN2_000103 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1410+27T>G r.(=) p.(=) g.21321517T>G Copied from the Exome Variant Server XRN2_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1410+44C>G r.(=) p.(=) g.21321534C>G Copied from the Exome Variant Server XRN2_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1411-16T>C r.(=) p.(=) g.21324712T>C Copied from the Exome Variant Server XRN2_000086 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1451G>T r.(?) p.(Gly484Val) g.21324768G>T Copied from the Exome Variant Server XRN2_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1452C>T r.(=) p.(=) g.21324769C>T Copied from the Exome Variant Server XRN2_000090 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1529+43A>G r.(=) p.(=) g.21324889A>G Copied from the Exome Variant Server XRN2_000092 8/13006 5/8600 3/4406 - - - - - - -
?/? c.1530-28A>G r.(=) p.(=) g.21327025A>G Copied from the Exome Variant Server XRN2_000094 4/13006 3/8600 1/4406 - - - - - - -
?/? c.1534T>C r.(?) p.(Trp512Arg) g.21327057T>C Copied from the Exome Variant Server XRN2_000096 1/13006 0/8600 1/4406 - - - - - - -
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