All transcript variants in gene PAN3

Information The variants shown are described using the NM_175854.7 transcript reference sequence.

130 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     
?/? c.-39_-34del r.(=) p.(=) g.28712756_28712761del Copied from the Exome Variant Server PAN3_000001 129/1682 84/1248 45/434
?/? c.15_16insG r.(?) p.(Leu7Profs*48) g.28712809_28712810insG Copied from the Exome Variant Server PAN3_000002 89/1186 44/888 45/298
?/? c.271G>T r.(?) p.(Ala91Ser) g.28713065G>T Copied from the Exome Variant Server PAN3_000003 3/10234 3/7132 0/3102
?/? c.431-27A>G r.(=) p.(=) g.28748382A>G Copied from the Exome Variant Server PAN3_000004 1/13006 0/8600 1/4406
?/? c.445G>A r.(?) p.(Gly149Arg) g.28748423G>A Copied from the Exome Variant Server PAN3_000005 1/13006 1/8600 0/4406
?/? c.462T>C r.(=) p.(=) g.28748440T>C Copied from the Exome Variant Server PAN3_000006 1/13006 1/8600 0/4406
?/? c.463A>G r.(?) p.(Thr155Ala) g.28748441A>G Copied from the Exome Variant Server PAN3_000007 2/13006 2/8600 0/4406
?/? c.466A>G r.(?) p.(Ser156Gly) g.28748444A>G Copied from the Exome Variant Server PAN3_000008 2/13006 0/8600 2/4406
?/? c.521G>A r.(?) p.(Ser174Asn) g.28748499G>A Copied from the Exome Variant Server PAN3_000009 1/13006 1/8600 0/4406
?/? c.540T>C r.(=) p.(=) g.28748518T>C Copied from the Exome Variant Server PAN3_000010 1/13006 0/8600 1/4406
?/? c.552+12A>G r.(=) p.(=) g.28748542A>G Copied from the Exome Variant Server PAN3_000011 1/13006 1/8600 0/4406
?/? c.552+22A>G r.(=) p.(=) g.28748552A>G Copied from the Exome Variant Server PAN3_000012 5/13006 5/8600 0/4406
?/? c.552+25G>A r.(=) p.(=) g.28748555G>A Copied from the Exome Variant Server PAN3_000013 1/13006 1/8600 0/4406
?/? c.552+29T>C r.(=) p.(=) g.28748559T>C Copied from the Exome Variant Server PAN3_000014 5/13006 5/8600 0/4406
?/? c.552+39A>G r.(=) p.(=) g.28748569A>G Copied from the Exome Variant Server PAN3_000015 1/13006 1/8600 0/4406
?/? c.553-58G>A r.(=) p.(=) g.28750572G>A Copied from the Exome Variant Server PAN3_000016 27/4566 0/3182 27/1384
?/? c.579A>G r.(=) p.(=) g.28750656A>G Copied from the Exome Variant Server PAN3_000017 8/13006 0/8600 8/4406
?/? c.589A>G r.(?) p.(Asn197Asp) g.28750666A>G Copied from the Exome Variant Server PAN3_000018 1/13006 1/8600 0/4406
?/? c.596G>A r.(?) p.(Ser199Asn) g.28750673G>A Copied from the Exome Variant Server PAN3_000019 1/13006 0/8600 1/4406
?/? c.606A>G r.(=) p.(=) g.28750683A>G Copied from the Exome Variant Server PAN3_000020 60/13006 0/8600 60/4406
?/? c.610T>G r.(?) p.(Ser204Ala) g.28750687T>G Copied from the Exome Variant Server PAN3_000021 3/13006 0/8600 3/4406
?/? c.615C>T r.(=) p.(=) g.28750692C>T Copied from the Exome Variant Server PAN3_000022 1/13006 1/8600 0/4406
?/? c.619+26G>A r.(=) p.(=) g.28750722G>A Copied from the Exome Variant Server PAN3_000023 1/13006 0/8600 1/4406
?/? c.620-65A>G r.(=) p.(=) g.28751937A>G Copied from the Exome Variant Server PAN3_000024 12/4566 0/3182 12/1384
?/? c.620-58T>C r.(=) p.(=) g.28751944T>C Copied from the Exome Variant Server PAN3_000025 1/4566 1/3182 0/1384
?/? c.620-49C>T r.(=) p.(=) g.28751953C>T Copied from the Exome Variant Server PAN3_000026 29/13004 20/8598 9/4406
?/? c.620-38A>G r.(=) p.(=) g.28751964A>G Copied from the Exome Variant Server PAN3_000027 33/13006 1/8600 32/4406
?/? c.620-16G>A r.(=) p.(=) g.28751986G>A Copied from the Exome Variant Server PAN3_000028 1/13006 0/8600 1/4406
?/? c.620-8del r.(=) p.(=) g.28751994del Copied from the Exome Variant Server PAN3_000029 43/12518 32/8254 11/4264
?/? c.656A>T r.(?) p.(Asp219Val) g.28752038A>T Copied from the Exome Variant Server PAN3_000030 1/13006 0/8600 1/4406
?/? c.690+43A>C r.(=) p.(=) g.28752115A>C Copied from the Exome Variant Server PAN3_000031 1513/13002 824/8596 689/4406
?/? c.690+46T>C r.(=) p.(=) g.28752118T>C Copied from the Exome Variant Server PAN3_000032 2/13002 0/8596 2/4406
?/? c.691-45G>A r.(=) p.(=) g.28771277G>A Copied from the Exome Variant Server PAN3_000033 1/10298 1/7162 0/3136
?/? c.691-13T>G r.(=) p.(=) g.28771309T>G Copied from the Exome Variant Server PAN3_000034 1/10300 1/7164 0/3136
?/? c.736A>T r.(?) p.(Met246Leu) g.28771367A>T Copied from the Exome Variant Server PAN3_000035 1/10300 1/7164 0/3136
?/? c.808A>G r.(?) p.(Ile270Val) g.28771439A>G Copied from the Exome Variant Server PAN3_000036 1/10300 1/7164 0/3136
?/? c.836C>G r.(?) p.(Thr279Arg) g.28771467C>G Copied from the Exome Variant Server PAN3_000037 1/10300 0/7164 1/3136
?/? c.853-42G>A r.(=) p.(=) g.28794326G>A Copied from the Exome Variant Server PAN3_000038 2/13004 2/8598 0/4406
?/? c.874G>A r.(?) p.(Glu292Lys) g.28794389G>A Copied from the Exome Variant Server PAN3_000039 1/13006 0/8600 1/4406
?/? c.898A>G r.(?) p.(Thr300Ala) g.28794413A>G Copied from the Exome Variant Server PAN3_000040 1/13006 1/8600 0/4406
?/? c.906G>A r.(=) p.(=) g.28794421G>A Copied from the Exome Variant Server PAN3_000041 1/13006 0/8600 1/4406
?/? c.962C>T r.(?) p.(Pro321Leu) g.28794477C>T Copied from the Exome Variant Server PAN3_000042 2/13006 2/8600 0/4406
?/? c.996G>A r.(=) p.(=) g.28794511G>A Copied from the Exome Variant Server PAN3_000043 167/13006 153/8600 14/4406
?/? c.1001-29A>G r.(=) p.(=) g.28830400A>G Copied from the Exome Variant Server PAN3_000044 90/13006 1/8600 89/4406
?/? c.1001-24G>T r.(=) p.(=) g.28830405G>T Copied from the Exome Variant Server PAN3_000045 1/13006 0/8600 1/4406
?/? c.1001-11A>G r.(=) p.(=) g.28830418A>G Copied from the Exome Variant Server PAN3_000046 17/13006 16/8600 1/4406
?/? c.1008G>A r.(=) p.(=) g.28830436G>A Copied from the Exome Variant Server PAN3_000047 259/13006 1/8600 258/4406
?/? c.1073G>C r.(?) p.(Arg358Thr) g.28830501G>C Copied from the Exome Variant Server PAN3_000048 1/13006 1/8600 0/4406
?/? c.1080A>T r.(?) p.(Arg360Ser) g.28830508A>T Copied from the Exome Variant Server PAN3_000049 1/13006 1/8600 0/4406
?/? c.1124C>T r.(?) p.(Ala375Val) g.28830552C>T Copied from the Exome Variant Server PAN3_000050 1/13006 1/8600 0/4406
?/? c.1133_1134insTGT r.(?) p.(Val379dup) g.28830561_28830562insTGT Copied from the Exome Variant Server PAN3_000051 4/12516 4/8252 0/4264
?/? c.1140T>A r.(?) p.(Asn380Lys) g.28830568T>A Copied from the Exome Variant Server PAN3_000052 1/13006 1/8600 0/4406
?/? c.1157C>T r.(?) p.(Thr386Ile) g.28830585C>T Copied from the Exome Variant Server PAN3_000054 1/13006 0/8600 1/4406
?/? c.1161G>A r.(=) p.(=) g.28830589G>A Copied from the Exome Variant Server PAN3_000053 1/13006 1/8600 0/4406
?/? c.1212C>T r.(=) p.(=) g.28830640C>T Copied from the Exome Variant Server PAN3_000055 1/13006 0/8600 1/4406
?/? c.1248+36C>T r.(=) p.(=) g.28830712C>T Copied from the Exome Variant Server PAN3_000056 1/13006 0/8600 1/4406
?/? c.1249-29T>C r.(=) p.(=) g.28834555T>C Copied from the Exome Variant Server PAN3_000057 1/13006 1/8600 0/4406
?/? c.1249-15del r.(=) p.(=) g.28834569del Copied from the Exome Variant Server PAN3_000058 2/12518 2/8254 0/4264
?/? c.1258A>G r.(?) p.(Asn420Asp) g.28834593A>G Copied from the Exome Variant Server PAN3_000059 1/13006 0/8600 1/4406
?/? c.1279A>G r.(?) p.(Thr427Ala) g.28834614A>G Copied from the Exome Variant Server PAN3_000060 48/13006 43/8600 5/4406
?/? c.1280C>T r.(?) p.(Thr427Ile) g.28834615C>T Copied from the Exome Variant Server PAN3_000061 1/13006 1/8600 0/4406
?/? c.1290C>T r.(=) p.(=) g.28834625C>T Copied from the Exome Variant Server PAN3_000062 255/13006 0/8600 255/4406
?/? c.1353+43G>T r.(=) p.(=) g.28834731G>T Copied from the Exome Variant Server PAN3_000063 1/13006 0/8600 1/4406
?/? c.1354-28A>G r.(=) p.(=) g.28835510A>G Copied from the Exome Variant Server PAN3_000064 6/12990 0/8584 6/4406
?/? c.1354-19T>C r.(=) p.(=) g.28835519T>C Copied from the Exome Variant Server PAN3_000065 1/12994 1/8588 0/4406
?/? c.1354-11_1354-10insC r.(=) p.(=) g.28835527_28835528insC Copied from the Exome Variant Server PAN3_000066 12487/12512 8249/8250 4238/4262
?/? c.1381A>G r.(?) p.(Met461Val) g.28835565A>G Copied from the Exome Variant Server PAN3_000067 1/13006 1/8600 0/4406
?/? c.1411+52C>T r.(=) p.(=) g.28835647C>T Copied from the Exome Variant Server PAN3_000068 2/7270 2/4616 0/2654
?/? c.1411+53G>A r.(=) p.(=) g.28835648G>A Copied from the Exome Variant Server PAN3_000069 1/4564 1/3180 0/1384
?/? c.1412-21_1412-19del r.(=) p.(=) g.28840831_28840833del Copied from the Exome Variant Server PAN3_000070 13/12518 9/8254 4/4264
?/? c.1422A>G r.(=) p.(=) g.28840862A>G Copied from the Exome Variant Server PAN3_000071 12/13006 10/8600 2/4406
?/? c.1478G>A r.(?) p.(Arg493Gln) g.28840918G>A Copied from the Exome Variant Server PAN3_000072 3/13006 3/8600 0/4406
?/? c.1534A>G r.(?) p.(Ser512Gly) g.28840974A>G Copied from the Exome Variant Server PAN3_000073 1/13006 1/8600 0/4406
?/? c.1573+17A>G r.(=) p.(=) g.28841030A>G Copied from the Exome Variant Server PAN3_000074 1/13004 0/8598 1/4406
?/? c.1573+18_1573+20del r.(=) p.(=) g.28841031_28841033del Copied from the Exome Variant Server PAN3_000075 27/12514 0/8250 27/4264
?/? c.1573+33G>A r.(=) p.(=) g.28841046G>A Copied from the Exome Variant Server PAN3_000076 1/12990 1/8584 0/4406
?/? c.1574-36A>G r.(=) p.(=) g.28841196A>G Copied from the Exome Variant Server PAN3_000077 1/13006 0/8600 1/4406
?/? c.1611C>T r.(=) p.(=) g.28841269C>T Copied from the Exome Variant Server PAN3_000078 1/13006 1/8600 0/4406
?/? c.1612G>A r.(?) p.(Asp538Asn) g.28841270G>A Copied from the Exome Variant Server PAN3_000079 1/13006 0/8600 1/4406
?/? c.1632A>G r.(=) p.(=) g.28841290A>G Copied from the Exome Variant Server PAN3_000080 1/13006 1/8600 0/4406
?/? c.1677A>G r.(=) p.(=) g.28841335A>G Copied from the Exome Variant Server PAN3_000081 1/13006 1/8600 0/4406
?/? c.1691-38C>A r.(=) p.(=) g.28841399C>A Copied from the Exome Variant Server PAN3_000082 35/13006 0/8600 35/4406
?/? c.1764T>C r.(=) p.(=) g.28841510T>C Copied from the Exome Variant Server PAN3_000083 1/13006 1/8600 0/4406
?/? c.1792+40C>G r.(=) p.(=) g.28841578C>G Copied from the Exome Variant Server PAN3_000084 1/13004 1/8600 0/4404
?/? c.1793-31A>G r.(=) p.(=) g.28844807A>G Copied from the Exome Variant Server PAN3_000085 1/13006 1/8600 0/4406
?/? c.1793-27C>A r.(=) p.(=) g.28844811C>A Copied from the Exome Variant Server PAN3_000086 521/13006 5/8600 516/4406
?/? c.1861A>G r.(?) p.(Ile621Val) g.28844906A>G Copied from the Exome Variant Server PAN3_000087 1/13006 1/8600 0/4406
?/? c.1872A>G r.(=) p.(=) g.28844917A>G Copied from the Exome Variant Server PAN3_000088 1/13006 0/8600 1/4406
?/? c.1916G>A r.(?) p.(Arg639Gln) g.28844961G>A Copied from the Exome Variant Server PAN3_000089 2/13006 0/8600 2/4406
?/? c.1922T>C r.(?) p.(Met641Thr) g.28844967T>C Copied from the Exome Variant Server PAN3_000090 14/13006 13/8600 1/4406
?/? c.1930A>G r.(?) p.(Thr644Ala) g.28844975A>G Copied from the Exome Variant Server PAN3_000091 1/13006 1/8600 0/4406
?/? c.1958+37C>T r.(=) p.(=) g.28845040C>T Copied from the Exome Variant Server PAN3_000092 1/13006 1/8600 0/4406
?/? c.1958+44C>T r.(=) p.(=) g.28845047C>T Copied from the Exome Variant Server PAN3_000093 5/13006 5/8600 0/4406
?/? c.1959-52del r.(=) p.(=) g.28846066del Copied from the Exome Variant Server PAN3_000094 89/12276 71/8128 18/4148
?/? c.1959-47T>A r.(=) p.(=) g.28846071T>A Copied from the Exome Variant Server PAN3_000095 200/12842 177/8510 23/4332
?/? c.1959-24C>G r.(=) p.(=) g.28846094C>G Copied from the Exome Variant Server PAN3_000096 1/12982 1/8582 0/4400
?/? c.2015A>G r.(?) p.(Asn672Ser) g.28846174A>G Copied from the Exome Variant Server PAN3_000097 1/13004 1/8598 0/4406
?/? c.2025A>G r.(=) p.(=) g.28846184A>G Copied from the Exome Variant Server PAN3_000098 1/13006 1/8600 0/4406
?/? c.2050-48G>A r.(=) p.(=) g.28851326G>A Copied from the Exome Variant Server PAN3_000099 1/13006 0/8600 1/4406
?/? c.2050-42G>A r.(=) p.(=) g.28851332G>A Copied from the Exome Variant Server PAN3_000100 3748/13006 1317/8600 2431/4406
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