Full data view for gene GFRA1

Information The variants shown are described using the NM_145793.3 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.-26_-25insG r.(=) p.(=) g.118031566_118031567insC Copied from the Exome Variant Server GFRA1_000104 175/8998 121/6058 54/2940 - - - - - - -
?/? c.41-6C>A r.(=) p.(=) g.118030633G>T Copied from the Exome Variant Server GFRA1_000103 1/12990 0/8590 1/4400 - - - - - - -
?/? c.41A>C r.(?) p.(Asp14Ala) g.118030627T>G Copied from the Exome Variant Server GFRA1_000102 187/12998 2/8594 185/4404 - - - - - - -
?/? c.78C>A r.(=) p.(=) g.118030590G>T Copied from the Exome Variant Server GFRA1_000101 1/13006 0/8600 1/4406 - - - - - - -
?/? c.122G>C r.(?) p.(Ser41Thr) g.118030546C>G Copied from the Exome Variant Server GFRA1_000100 2/13006 0/8600 2/4406 - - - - - - -
?/? c.123C>T r.(=) p.(=) g.118030545G>A Copied from the Exome Variant Server GFRA1_000099 1/13006 0/8600 1/4406 - - - - - - -
?/? c.188C>T r.(?) p.(Ala63Val) g.118030480G>A Copied from the Exome Variant Server GFRA1_000098 1/13006 1/8600 0/4406 - - - - - - -
?/? c.253T>A r.(?) p.(Tyr85Asn) g.118030415A>T Copied from the Exome Variant Server GFRA1_000097 314/13006 279/8600 35/4406 - - - - - - -
?/? c.273G>A r.(=) p.(=) g.118030395C>T Copied from the Exome Variant Server GFRA1_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.282G>A r.(=) p.(=) g.118030386C>T Copied from the Exome Variant Server GFRA1_000095 70/13006 2/8600 68/4406 - - - - - - -
?/? c.334+13C>A r.(=) p.(=) g.118030321G>T Copied from the Exome Variant Server GFRA1_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.334+38C>T r.(=) p.(=) g.118030296G>A Copied from the Exome Variant Server GFRA1_000093 1/13002 0/8598 1/4404 - - - - - - -
?/? c.334+41C>T r.(=) p.(=) g.118030293G>A Copied from the Exome Variant Server GFRA1_000092 1/12998 1/8594 0/4404 - - - - - - -
?/? c.360A>G r.(=) p.(=) g.118029073T>C Copied from the Exome Variant Server GFRA1_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.373A>G r.(?) p.(Asn125Asp) g.118029060T>C Copied from the Exome Variant Server GFRA1_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.398G>A r.(?) p.(Arg133Gln) g.118029035C>T Copied from the Exome Variant Server GFRA1_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.412A>G r.(?) p.(Ile138Val) g.118029021T>C Copied from the Exome Variant Server GFRA1_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.418+21A>G r.(=) p.(=) g.118028994T>C Copied from the Exome Variant Server GFRA1_000087 2/13006 0/8600 2/4406 - - - - - - -
?/? c.418+57771A>G r.(=) p.(=) g.117971244T>C Copied from the Exome Variant Server GFRA1_000086 234/4566 190/3182 44/1384 - - - - - - -
?/? c.418+57872G>C r.(=) p.(=) g.117971143C>G Copied from the Exome Variant Server GFRA1_000085 1/6240 1/4234 0/2006 - - - - - - -
?/? c.419-40C>T r.(=) p.(=) g.117885108G>A Copied from the Exome Variant Server GFRA1_000084 2/13006 0/8600 2/4406 - - - - - - -
?/? c.419-24G>A r.(=) p.(=) g.117885092C>T Copied from the Exome Variant Server GFRA1_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.419-23C>G r.(=) p.(=) g.117885091G>C Copied from the Exome Variant Server GFRA1_000082 127/13006 6/8600 121/4406 - - - - - - -
?/? c.426C>T r.(=) p.(=) g.117885061G>A Copied from the Exome Variant Server GFRA1_000081 3/13006 0/8600 3/4406 - - - - - - -
?/? c.443A>G r.(?) p.(Asn148Ser) g.117885044T>C Copied from the Exome Variant Server GFRA1_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.462G>A r.(=) p.(=) g.117885025C>T Copied from the Exome Variant Server GFRA1_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.480C>T r.(=) p.(=) g.117885007G>A Copied from the Exome Variant Server GFRA1_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.501G>A r.(=) p.(=) g.117884986C>T Copied from the Exome Variant Server GFRA1_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.528C>T r.(=) p.(=) g.117884959G>A Copied from the Exome Variant Server GFRA1_000076 2/13006 1/8600 1/4406 - - - - - - -
?/? c.536A>G r.(?) p.(Asn179Ser) g.117884951T>C Copied from the Exome Variant Server GFRA1_000075 2/13006 1/8600 1/4406 - - - - - - -
?/? c.537C>T r.(=) p.(=) g.117884950G>A Copied from the Exome Variant Server GFRA1_000074 6291/13006 4895/8600 1396/4406 - - - - - - -
?/? c.550_551insC r.(?) p.(Arg184Profs*13) g.117884936_117884937insG Copied from the Exome Variant Server GFRA1_000073 213/12518 135/8254 78/4264 - - - - - - -
?/? c.554G>A r.(?) p.(Arg185His) g.117884933C>T Copied from the Exome Variant Server GFRA1_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.555C>G r.(=) p.(=) g.117884932G>C Copied from the Exome Variant Server GFRA1_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.566A>G r.(?) p.(Lys189Arg) g.117884921T>C Copied from the Exome Variant Server GFRA1_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.597G>A r.(=) p.(=) g.117884890C>T Copied from the Exome Variant Server GFRA1_000069 2/13006 0/8600 2/4406 - - - - - - -
?/? c.732C>T r.(=) p.(=) g.117884755G>A Copied from the Exome Variant Server GFRA1_000068 54/13006 51/8600 3/4406 - - - - - - -
?/? c.739A>G r.(?) p.(Thr247Ala) g.117884748T>C Copied from the Exome Variant Server GFRA1_000067 3/13006 0/8600 3/4406 - - - - - - -
?/? c.740C>T r.(?) p.(Thr247Met) g.117884747G>A Copied from the Exome Variant Server GFRA1_000066 26/13006 0/8600 26/4406 - - - - - - -
?/? c.755+5G>T r.spl? p.? g.117884727C>A Copied from the Exome Variant Server GFRA1_000065 6/13006 5/8600 1/4406 - - - - - - -
?/? c.755+15G>A r.(=) p.(=) g.117884717C>T Copied from the Exome Variant Server GFRA1_000064 80/13006 3/8600 77/4406 - - - - - - -
?/? c.755+17A>C r.(=) p.(=) g.117884715T>G Copied from the Exome Variant Server GFRA1_000063 60/13006 0/8600 60/4406 - - - - - - -
?/? c.755+18G>C r.(=) p.(=) g.117884714C>G Copied from the Exome Variant Server GFRA1_000062 72/13006 0/8600 72/4406 - - - - - - -
?/? c.755+26T>C r.(=) p.(=) g.117884706A>G Copied from the Exome Variant Server GFRA1_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.755+27T>A r.(=) p.(=) g.117884705A>T Copied from the Exome Variant Server GFRA1_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.756-32T>A r.(=) p.(=) g.117856307A>T Copied from the Exome Variant Server GFRA1_000059 1/13002 0/8598 1/4404 - - - - - - -
?/? c.756-22del r.(=) p.(=) g.117856297del Copied from the Exome Variant Server GFRA1_000058 8/12514 5/8254 3/4260 - - - - - - -
?/? c.756-17_756-16insCC r.(=) p.(=) g.117856291_117856292insGG Copied from the Exome Variant Server GFRA1_000057 156/12510 78/8252 78/4258 - - - - - - -
?/? c.756-11_756-10insT r.(=) p.(=) g.117856285_117856286insA Copied from the Exome Variant Server GFRA1_000056 12/12504 9/8250 3/4254 - - - - - - -
?/? c.768G>A r.(=) p.(=) g.117856263C>T Copied from the Exome Variant Server GFRA1_000055 2/13006 1/8600 1/4406 - - - - - - -
?/? c.789G>T r.(?) p.(Gln263His) g.117856242C>A Copied from the Exome Variant Server GFRA1_000054 3/13006 1/8600 2/4406 - - - - - - -
?/? c.816T>C r.(=) p.(=) g.117856215A>G Copied from the Exome Variant Server GFRA1_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.846C>T r.(=) p.(=) g.117856185G>A Copied from the Exome Variant Server GFRA1_000052 3/13006 3/8600 0/4406 - - - - - - -
?/? c.855G>A r.(=) p.(=) g.117856176C>T Copied from the Exome Variant Server GFRA1_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.861_862insT r.(?) p.(Ile288Tyrfs*14) g.117856169_117856170insA Copied from the Exome Variant Server GFRA1_000050 1/12518 1/8254 0/4264 - - - - - - -
?/? c.865+9C>T r.(=) p.(=) g.117856157G>A Copied from the Exome Variant Server GFRA1_000049 2/13006 1/8600 1/4406 - - - - - - -
?/? c.865+21G>A r.(=) p.(=) g.117856145C>T Copied from the Exome Variant Server GFRA1_000048 1455/13006 923/8600 532/4406 - - - - - - -
?/? c.865+47T>C r.(=) p.(=) g.117856119A>G Copied from the Exome Variant Server GFRA1_000047 1/13004 1/8598 0/4406 - - - - - - -
?/? c.865+48A>G r.(=) p.(=) g.117856118T>C Copied from the Exome Variant Server GFRA1_000046 1/13004 1/8598 0/4406 - - - - - - -
?/? c.866-51T>C r.(=) p.(=) g.117853398A>G Copied from the Exome Variant Server GFRA1_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.866-7_866-5del r.spl? p.? g.117853352_117853354del Copied from the Exome Variant Server GFRA1_000044 1/12518 1/8254 0/4264 - - - - - - -
?/? c.944A>G r.(?) p.(Asn315Ser) g.117853269T>C Copied from the Exome Variant Server GFRA1_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.945C>T r.(=) p.(=) g.117853268G>A Copied from the Exome Variant Server GFRA1_000042 2/13006 0/8600 2/4406 - - - - - - -
?/? c.970T>A r.(?) p.(Leu324Met) g.117853243A>T Copied from the Exome Variant Server GFRA1_000041 2/13006 0/8600 2/4406 - - - - - - -
?/? c.987C>T r.(=) p.(=) g.117853226G>A Copied from the Exome Variant Server GFRA1_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1000+31G>T r.(=) p.(=) g.117853182C>A Copied from the Exome Variant Server GFRA1_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1000+36C>T r.(=) p.(=) g.117853177G>A Copied from the Exome Variant Server GFRA1_000038 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1000+37G>A r.(=) p.(=) g.117853176C>T Copied from the Exome Variant Server GFRA1_000037 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1001-48C>T r.(=) p.(=) g.117849481G>A Copied from the Exome Variant Server GFRA1_000036 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1001-47G>A r.(=) p.(=) g.117849480C>T Copied from the Exome Variant Server GFRA1_000035 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1032C>T r.(=) p.(=) g.117849402G>A Copied from the Exome Variant Server GFRA1_000034 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1035T>G r.(?) p.(Asp345Glu) g.117849399A>C Copied from the Exome Variant Server GFRA1_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1099C>T r.(?) p.(Arg367Trp) g.117849335G>A Copied from the Exome Variant Server GFRA1_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1148C>T r.(?) p.(Pro383Leu) g.117849286G>A Copied from the Exome Variant Server GFRA1_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1151C>T r.(?) p.(Thr384Ile) g.117849283G>A Copied from the Exome Variant Server GFRA1_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1155T>C r.(=) p.(=) g.117849279A>G Copied from the Exome Variant Server GFRA1_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1166C>T r.(?) p.(Pro389Leu) g.117849268G>A Copied from the Exome Variant Server GFRA1_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1182+5G>A r.spl? p.? g.117849247C>T Copied from the Exome Variant Server GFRA1_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1182+11C>T r.(=) p.(=) g.117849241G>A Copied from the Exome Variant Server GFRA1_000026 5/13006 3/8600 2/4406 - - - - - - -
?/? c.1182+12G>A r.(=) p.(=) g.117849240C>T Copied from the Exome Variant Server GFRA1_000025 52/13006 49/8600 3/4406 - - - - - - -
?/? c.1182+46G>C r.(=) p.(=) g.117849206C>G Copied from the Exome Variant Server GFRA1_000024 553/13006 516/8600 37/4406 - - - - - - -
?/? c.1182+50G>C r.(=) p.(=) g.117849202C>G Copied from the Exome Variant Server GFRA1_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1182+51_1182+52insG r.(=) p.(=) g.117849200_117849201insC Copied from the Exome Variant Server GFRA1_000022 19/12518 8/8254 11/4264 - - - - - - -
?/? c.1183-59T>A r.(=) p.(=) g.117825196A>T Copied from the Exome Variant Server GFRA1_000021 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1183-39G>C r.(=) p.(=) g.117825176C>G Copied from the Exome Variant Server GFRA1_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1183-33T>C r.(=) p.(=) g.117825170A>G Copied from the Exome Variant Server GFRA1_000019 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1183-16_1183-15insT r.(=) p.(=) g.117825152_117825153insA Copied from the Exome Variant Server GFRA1_000018 42/12518 39/8254 3/4264 - - - - - - -
?/? c.1209G>A r.(=) p.(=) g.117825111C>T Copied from the Exome Variant Server GFRA1_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1214A>T r.(?) p.(Asn405Ile) g.117825106T>A Copied from the Exome Variant Server GFRA1_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1236+8T>G r.(=) p.(=) g.117825076A>C Copied from the Exome Variant Server GFRA1_000015 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1236+27G>A r.(=) p.(=) g.117825057C>T Copied from the Exome Variant Server GFRA1_000014 4/13006 3/8600 1/4406 - - - - - - -
?/? c.1237-35_1237-34insG r.(=) p.(=) g.117824089_117824090insC Copied from the Exome Variant Server GFRA1_000013 88/12518 0/8254 88/4264 - - - - - - -
?/? c.1238G>C r.(?) p.(Gly413Ala) g.117824054C>G Copied from the Exome Variant Server GFRA1_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1242T>C r.(=) p.(=) g.117824050A>G Copied from the Exome Variant Server GFRA1_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1260C>T r.(=) p.(=) g.117824032G>A Copied from the Exome Variant Server GFRA1_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1329G>C r.(=) p.(=) g.117823963C>G Copied from the Exome Variant Server GFRA1_000009 7/13006 5/8600 2/4406 - - - - - - -
?/? c.1345G>A r.(?) p.(Ala449Thr) g.117823947C>T Copied from the Exome Variant Server GFRA1_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1353C>T r.(=) p.(=) g.117823939G>A Copied from the Exome Variant Server GFRA1_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1364C>A r.(?) p.(Ser455Tyr) g.117823928G>T Copied from the Exome Variant Server GFRA1_000006 5/13006 4/8600 1/4406 - - - - - - -
?/? c.1377A>G r.(=) p.(=) g.117823915T>C Copied from the Exome Variant Server GFRA1_000005 1/13006 1/8600 0/4406 - - - - - - -
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