Unique variants in gene GPHN

Information The variants shown are described using the NM_020806.4 transcript reference sequence.

125 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-44G>C r.(=) p.(=) g.66975202G>C Copied from the Exome Variant Server GPHN_000001 26/13006 0/8600 26/4406
1 c.20T>C r.(?) p.(Ile7Thr) g.66975265T>C Copied from the Exome Variant Server GPHN_000002 1/13006 1/8600 0/4406
1 c.26C>G r.(?) p.(Thr9Ser) g.66975271C>G Copied from the Exome Variant Server GPHN_000003 19/13006 17/8600 2/4406
1 c.28A>T r.(?) p.(Asn10Tyr) g.66975273A>T Copied from the Exome Variant Server GPHN_000004 1/13006 0/8600 1/4406
1 c.43A>T r.(?) p.(Ile15Phe) g.66975288A>T Copied from the Exome Variant Server GPHN_000005 1/13006 1/8600 0/4406
1 c.64+30G>A r.(=) p.(=) g.66975339G>A Copied from the Exome Variant Server GPHN_000006 1/13006 0/8600 1/4406
1 c.64+48T>C r.(=) p.(=) g.66975357T>C Copied from the Exome Variant Server GPHN_000007 1/13006 1/8600 0/4406
1 c.65-44T>C r.(=) p.(=) g.67147781T>C Copied from the Exome Variant Server GPHN_000008 1/13004 0/8600 1/4404
1 c.65-31_65-30insT r.(=) p.(=) g.67147794_67147795insT Copied from the Exome Variant Server GPHN_000009 20/12516 9/8252 11/4264
1 c.65-12A>G r.(=) p.(=) g.67147813A>G Copied from the Exome Variant Server GPHN_000010 1/13004 1/8598 0/4406
1 c.65-9T>C r.(=) p.(=) g.67147816T>C Copied from the Exome Variant Server GPHN_000011 4085/13004 1245/8598 2840/4406
1 c.86A>G r.(?) p.(Asn29Ser) g.67147846A>G Copied from the Exome Variant Server GPHN_000012 1/13006 1/8600 0/4406
1 c.91G>A r.(?) p.(Ala31Thr) g.67147851G>A Copied from the Exome Variant Server GPHN_000013 2/13006 2/8600 0/4406
1 c.127G>T r.(?) p.(Val43Leu) g.67147887G>T Copied from the Exome Variant Server GPHN_000014 133/13006 122/8600 11/4406
1 c.129A>G r.(=) p.(=) g.67147889A>G Copied from the Exome Variant Server GPHN_000015 1/13006 0/8600 1/4406
1 c.143+26G>A r.(=) p.(=) g.67147929G>A Copied from the Exome Variant Server GPHN_000016 17/13006 15/8600 2/4406
1 c.144-58T>G r.(=) p.(=) g.67243124T>G Copied from the Exome Variant Server GPHN_000017 2/4566 1/3182 1/1384
1 c.144-39A>G r.(=) p.(=) g.67243143A>G Copied from the Exome Variant Server GPHN_000018 3/13006 3/8600 0/4406
1 c.149G>A r.(?) p.(Gly50Asp) g.67243187G>A Copied from the Exome Variant Server GPHN_000019 1/13006 0/8600 1/4406
1 c.201+11G>A r.(=) p.(=) g.67243250G>A Copied from the Exome Variant Server GPHN_000020 1/13006 1/8600 0/4406
1 c.201+12C>T r.(=) p.(=) g.67243251C>T Copied from the Exome Variant Server GPHN_000021 1/13006 0/8600 1/4406
1 c.202-45C>G r.(=) p.(=) g.67291147C>G Copied from the Exome Variant Server GPHN_000022 1/13002 0/8598 1/4404
1 c.202-38A>G r.(=) p.(=) g.67291154A>G Copied from the Exome Variant Server GPHN_000023 4089/13004 1067/8598 3022/4406
1 c.202-6T>C r.(=) p.(=) g.67291186T>C Copied from the Exome Variant Server GPHN_000024 2841/13006 370/8600 2471/4406
1 c.271G>A r.(?) p.(Ala91Thr) g.67291261G>A Copied from the Exome Variant Server GPHN_000025 8/13006 8/8600 0/4406
1 c.294+16C>T r.(=) p.(=) g.67291300C>T Copied from the Exome Variant Server GPHN_000026 1/13004 1/8598 0/4406
1 c.295-48C>G r.(=) p.(=) g.67346609C>G Copied from the Exome Variant Server GPHN_000027 1/13004 1/8598 0/4406
1 c.389+8A>G r.(=) p.(=) g.67346759A>G Copied from the Exome Variant Server GPHN_000028 1/13006 1/8600 0/4406
1 c.389+19T>C r.(=) p.(=) g.67346770T>C Copied from the Exome Variant Server GPHN_000029 1/13006 0/8600 1/4406
1 c.390-48G>A r.(=) p.(=) g.67382672G>A Copied from the Exome Variant Server GPHN_000030 2/13006 2/8600 0/4406
1 c.390-40A>G r.(=) p.(=) g.67382680A>G Copied from the Exome Variant Server GPHN_000031 1/13006 1/8600 0/4406
1 c.390-37G>T r.(=) p.(=) g.67382683G>T Copied from the Exome Variant Server GPHN_000032 1/13006 1/8600 0/4406
1 c.392C>G r.(?) p.(Pro131Arg) g.67382722C>G Copied from the Exome Variant Server GPHN_000033 1/13006 1/8600 0/4406
1 c.416C>T r.(?) p.(Thr139Met) g.67382746C>T Copied from the Exome Variant Server GPHN_000034 1/13006 1/8600 0/4406
1 c.456+11T>C r.(=) p.(=) g.67382797T>C Copied from the Exome Variant Server GPHN_000035 1/13006 1/8600 0/4406
1 c.456+31T>C r.(=) p.(=) g.67382817T>C Copied from the Exome Variant Server GPHN_000036 1/13006 1/8600 0/4406
1 c.457-37C>G r.(=) p.(=) g.67389346C>G Copied from the Exome Variant Server GPHN_000037 180/13006 5/8600 175/4406
1 c.457-26del r.(=) p.(=) g.67389357del Copied from the Exome Variant Server GPHN_000038 4/12518 3/8254 1/4264
1 c.457-26T>G r.(=) p.(=) g.67389357T>G Copied from the Exome Variant Server GPHN_000039 1/13006 1/8600 0/4406
1 c.509G>A r.(?) p.(Arg170His) g.67389435G>A Copied from the Exome Variant Server GPHN_000040 1/13006 1/8600 0/4406
1 c.534G>A r.(=) p.(=) g.67389460G>A Copied from the Exome Variant Server GPHN_000041 1/13006 1/8600 0/4406
1 c.537G>A r.(=) p.(=) g.67389463G>A Copied from the Exome Variant Server GPHN_000042 1/13006 1/8600 0/4406
1 c.582C>G r.(=) p.(=) g.67389508C>G Copied from the Exome Variant Server GPHN_000043 1/13006 0/8600 1/4406
1 c.604C>T r.(?) p.(His202Tyr) g.67389530C>T Copied from the Exome Variant Server GPHN_000044 1/13006 1/8600 0/4406
1 c.633A>G r.(=) p.(=) g.67389559A>G Copied from the Exome Variant Server GPHN_000045 3/13006 3/8600 0/4406
1 c.684A>G r.(=) p.(=) g.67389610A>G Copied from the Exome Variant Server GPHN_000046 1/13006 1/8600 0/4406
1 c.729+50G>A r.(=) p.(=) g.67389705G>A Copied from the Exome Variant Server GPHN_000047 1/12974 0/8574 1/4400
1 c.730-45G>A r.(=) p.(=) g.67390866G>A Copied from the Exome Variant Server GPHN_000048 127/13004 4/8598 123/4406
1 c.730-31A>G r.(=) p.(=) g.67390880A>G Copied from the Exome Variant Server GPHN_000049 1/13006 0/8600 1/4406
1 c.730-27_730-26insA r.(=) p.(=) g.67390884_67390885insA Copied from the Exome Variant Server GPHN_000050 5/12518 1/8254 4/4264
1 c.730-10T>A r.(=) p.(=) g.67390901T>A Copied from the Exome Variant Server GPHN_000051 1/13006 0/8600 1/4406
1 c.800A>G r.(?) p.(Asn267Ser) g.67390981A>G Copied from the Exome Variant Server GPHN_000052 73/13006 65/8600 8/4406
1 c.828+21A>C r.(=) p.(=) g.67391030A>C Copied from the Exome Variant Server GPHN_000053 1/13006 1/8600 0/4406
1 c.828+40T>A r.(=) p.(=) g.67391049T>A Copied from the Exome Variant Server GPHN_000054 8/13004 6/8598 2/4406
1 c.829-43G>C r.(=) p.(=) g.67431865G>C Copied from the Exome Variant Server GPHN_000055 1/13006 1/8600 0/4406
1 c.829-20T>C r.(=) p.(=) g.67431888T>C Copied from the Exome Variant Server GPHN_000056 1/13006 1/8600 0/4406
1 c.867C>G r.(=) p.(=) g.67431946C>G Copied from the Exome Variant Server GPHN_000057 1/13000 1/8594 0/4406
1 c.963+10G>A r.(=) p.(=) g.67432052G>A Copied from the Exome Variant Server GPHN_000058 153/13006 140/8600 13/4406
1 c.963+18G>A r.(=) p.(=) g.67432060G>A Copied from the Exome Variant Server GPHN_000059 2/13006 1/8600 1/4406
1 c.963+39A>T r.(=) p.(=) g.67432081A>T Copied from the Exome Variant Server GPHN_000060 1/13006 0/8600 1/4406
1 c.964-52T>C r.(=) p.(=) g.67490298T>C Copied from the Exome Variant Server GPHN_000061 3/10300 0/7164 3/3136
1 c.964-34A>G r.(=) p.(=) g.67490316A>G Copied from the Exome Variant Server GPHN_000062 267/13006 140/8600 127/4406
1 c.964-20A>T r.(=) p.(=) g.67490330A>T Copied from the Exome Variant Server GPHN_000063 1/13006 1/8600 0/4406
1 c.1007-15T>C r.(=) p.(=) g.67525351T>C Copied from the Exome Variant Server GPHN_000064 1/13006 0/8600 1/4406
1 c.1145-21C>T r.(=) p.(=) g.67555679C>T Copied from the Exome Variant Server GPHN_000065 1/13006 0/8600 1/4406
1 c.1145-17C>A r.(=) p.(=) g.67555683C>A Copied from the Exome Variant Server GPHN_000066 1/13006 1/8600 0/4406
1 c.1157G>A r.(?) p.(Arg386Gln) g.67555712G>A Copied from the Exome Variant Server GPHN_000067 1/13006 1/8600 0/4406
1 c.1173T>C r.(=) p.(=) g.67555728T>C Copied from the Exome Variant Server GPHN_000068 4/13006 1/8600 3/4406
1 c.1219G>T r.(?) p.(Asp407Tyr) g.67555774G>T Copied from the Exome Variant Server GPHN_000069 1/13006 0/8600 1/4406
1 c.1237+40_1237+41insT r.(=) p.(=) g.67555832_67555833insT Copied from the Exome Variant Server GPHN_000070 513/12310 362/8144 151/4166
1 c.1237+51_1237+67del r.(=) p.(=) g.67555843_67555859del Copied from the Exome Variant Server GPHN_000071 107/12186 8/8114 99/4072
1 c.1237+52_1237+67del r.(=) p.(=) g.67555844_67555859del Copied from the Exome Variant Server GPHN_000072 1464/12186 246/8114 1218/4072
1 c.1237+53_1237+67del r.(=) p.(=) g.67555845_67555859del Copied from the Exome Variant Server GPHN_000073 765/12186 102/8114 663/4072
1 c.1237+54_1237+67del r.(=) p.(=) g.67555846_67555859del Copied from the Exome Variant Server GPHN_000074 410/12186 72/8114 338/4072
1 c.1237+56_1237+57del r.(=) p.(=) g.67555848_67555849del Copied from the Exome Variant Server GPHN_000075 179/12186 28/8114 151/4072
1 c.1238-50T>C r.(=) p.(=) g.67567523T>C Copied from the Exome Variant Server GPHN_000076 142/13006 5/8600 137/4406
1 c.1238-31T>C r.(=) p.(=) g.67567542T>C Copied from the Exome Variant Server GPHN_000077 153/13006 139/8600 14/4406
1 c.1238-14G>T r.(=) p.(=) g.67567559G>T Copied from the Exome Variant Server GPHN_000078 1/13006 0/8600 1/4406
1 c.1281A>G r.(=) p.(=) g.67567616A>G Copied from the Exome Variant Server GPHN_000079 1/13006 0/8600 1/4406
1 c.1293+15del r.(=) p.(=) g.67567643del Copied from the Exome Variant Server GPHN_000080 2/12518 2/8254 0/4264
1 c.1293+17T>G r.(=) p.(=) g.67567645T>G Copied from the Exome Variant Server GPHN_000081 1/13006 1/8600 0/4406
1 c.1327C>A r.(=) p.(=) g.67576890C>A Copied from the Exome Variant Server GPHN_000082 1/13006 1/8600 0/4406
1 c.1414-64G>A r.(=) p.(=) g.67578514G>A Copied from the Exome Variant Server GPHN_000083 51/4564 1/3180 50/1384
1 c.1414-15C>T r.(=) p.(=) g.67578563C>T Copied from the Exome Variant Server GPHN_000084 40/13006 1/8600 39/4406
1 c.1414-4A>C r.spl? p.? g.67578574A>C Copied from the Exome Variant Server GPHN_000085 50/13006 0/8600 50/4406
1 c.1419T>C r.(=) p.(=) g.67578583T>C Copied from the Exome Variant Server GPHN_000086 1/13006 0/8600 1/4406
1 c.1436G>A r.(?) p.(Arg479Gln) g.67578600G>A Copied from the Exome Variant Server GPHN_000087 1/13006 1/8600 0/4406
1 c.1472+29C>T r.(=) p.(=) g.67578665C>T Copied from the Exome Variant Server GPHN_000088 1/13006 1/8600 0/4406
1 c.1473-22A>C r.(=) p.(=) g.67579713A>C Copied from the Exome Variant Server GPHN_000089 3/13006 3/8600 0/4406
1 c.1473-7C>A r.(=) p.(=) g.67579728C>A Copied from the Exome Variant Server GPHN_000090 1/13006 1/8600 0/4406
1 c.1549C>A r.(?) p.(Leu517Ile) g.67579811C>A Copied from the Exome Variant Server GPHN_000091 1/13006 0/8600 1/4406
1 c.1627-47A>G r.(=) p.(=) g.67588926A>G Copied from the Exome Variant Server GPHN_000092 1/13006 1/8600 0/4406
1 c.1627-20G>T r.(=) p.(=) g.67588953G>T Copied from the Exome Variant Server GPHN_000093 64/13006 1/8600 63/4406
1 c.1668A>T r.(=) p.(=) g.67589014A>T Copied from the Exome Variant Server GPHN_000094 1/13006 1/8600 0/4406
1 c.1734T>C r.(=) p.(=) g.67589080T>C Copied from the Exome Variant Server GPHN_000095 173/13006 3/8600 170/4406
1 c.1748+34T>C r.(=) p.(=) g.67589128T>C Copied from the Exome Variant Server GPHN_000096 5/13006 0/8600 5/4406
1 c.1748+45C>T r.(=) p.(=) g.67589139C>T Copied from the Exome Variant Server GPHN_000097 1/13006 1/8600 0/4406
1 c.1749-56C>G r.(=) p.(=) g.67610023C>G Copied from the Exome Variant Server GPHN_000098 1/4566 0/3182 1/1384
1 c.1749-15T>C r.(=) p.(=) g.67610064T>C Copied from the Exome Variant Server GPHN_000099 1/13006 0/8600 1/4406
1 c.1768G>T r.(?) p.(Ala590Ser) g.67610098G>T Copied from the Exome Variant Server GPHN_000100 1/13006 1/8600 0/4406
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