Unique variants in gene AGL

Information The variants shown are described using the NM_000028.2 transcript reference sequence.

272 entries on 3 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.-25G>T r.(=) p.(=) g.100316574G>T Copied from the Exome Variant Server AGL_000001 3/13006 3/8600 0/4406
1 c.-10A>G r.(=) p.(=) g.100316589A>G Copied from the Exome Variant Server AGL_000002 5407/13006 4185/8600 1222/4406
1 c.39C>T r.(=) p.(=) g.100316637C>T Copied from the Exome Variant Server AGL_000003 4/13006 4/8600 0/4406
1 c.78A>G r.(=) p.(=) g.100316676A>G Copied from the Exome Variant Server AGL_000004 1/13006 0/8600 1/4406
1 c.82+1517A>G r.(=) p.(=) g.100318197A>G Copied from the Exome Variant Server AGL_000005 2/12994 1/8594 1/4400
1 c.82+1522G>C r.(=) p.(=) g.100318202G>C Copied from the Exome Variant Server AGL_000006 1/12998 1/8594 0/4404
1 c.82+1528A>G r.(=) p.(=) g.100318208A>G Copied from the Exome Variant Server AGL_000007 1/13002 0/8598 1/4404
1 c.82+1541C>T r.(=) p.(=) g.100318221C>T Copied from the Exome Variant Server AGL_000008 1/13002 0/8598 1/4404
1 c.82+1564A>T r.(=) p.(=) g.100318244A>T Copied from the Exome Variant Server AGL_000009 1/13002 1/8598 0/4404
1 c.82+1565T>G r.(=) p.(=) g.100318245T>G Copied from the Exome Variant Server AGL_000010 187/13002 173/8598 14/4404
1 c.82+1604_82+1606del r.(=) p.(=) g.100318284_100318286del Copied from the Exome Variant Server AGL_000011 2/12512 0/8248 2/4264
1 c.83-66C>G r.(=) p.(=) g.100326993C>G Copied from the Exome Variant Server AGL_000012 2/12984 2/8590 0/4394
1 c.83-53A>G r.(=) p.(=) g.100327006A>G Copied from the Exome Variant Server AGL_000013 1/12998 0/8598 1/4400
1 c.83-33C>T r.(=) p.(=) g.100327026C>T Copied from the Exome Variant Server AGL_000014 3143/12998 1467/8596 1676/4402
1 c.103T>C r.(=) p.(=) g.100327079T>C Copied from the Exome Variant Server AGL_000016 3/13006 3/8600 0/4406
1 c.108C>T r.(=) p.(=) g.100327084C>T Copied from the Exome Variant Server AGL_000018 1/13006 0/8600 1/4406
1 c.112A>G r.(?) p.(Thr38Ala) g.100327088A>G Copied from the Exome Variant Server AGL_000020 231/13004 2/8598 229/4406
1 c.120G>A r.(=) p.(=) g.100327096G>A Copied from the Exome Variant Server AGL_000021 1/13004 1/8598 0/4406
1 c.151C>T r.(?) p.(Pro51Ser) g.100327127C>T Copied from the Exome Variant Server AGL_000024 1/13004 0/8598 1/4406
1 c.207T>C r.(=) p.(=) g.100327183T>C Copied from the Exome Variant Server AGL_000026 188/13006 173/8600 15/4406
1 c.224A>G r.(?) p.(Asp75Gly) g.100327200A>G Copied from the Exome Variant Server AGL_000027 3/13006 3/8600 0/4406
1 c.244A>G r.(?) p.(Lys82Glu) g.100327220A>G Copied from the Exome Variant Server AGL_000030 1/13006 0/8600 1/4406
1 c.261A>G r.(=) p.(=) g.100327237A>G Copied from the Exome Variant Server AGL_000031 2/13006 2/8600 0/4406
1 c.293+3A>G r.spl? p.? g.100327272A>G Copied from the Exome Variant Server AGL_000034 2/12990 2/8594 0/4396
1 c.293+9G>C r.(=) p.(=) g.100327278G>C Copied from the Exome Variant Server AGL_000035 2/12980 2/8592 0/4388
1 c.293+23G>A r.(=) p.(=) g.100327292G>A Copied from the Exome Variant Server AGL_000015 4/12952 0/8582 4/4370
1 c.294-38C>A r.(=) p.(=) g.100327775C>A Copied from the Exome Variant Server AGL_000017 1/13006 0/8600 1/4406
1 c.294-30G>C r.(=) p.(=) g.100327783G>C Copied from the Exome Variant Server AGL_000019 1/13006 0/8600 1/4406
1 c.294-6C>T r.(=) p.(=) g.100327807C>T Copied from the Exome Variant Server AGL_000022 1/13006 1/8600 0/4406
1 c.311G>T r.(?) p.(Gly104Val) g.100327830G>T Copied from the Exome Variant Server AGL_000023 1/13006 1/8600 0/4406
1 c.318C>T r.(=) p.(=) g.100327837C>T Copied from the Exome Variant Server AGL_000025 1/13006 1/8600 0/4406
1 c.325G>T r.(?) p.(Val109Leu) g.100327844G>T Copied from the Exome Variant Server AGL_000028 1/13006 1/8600 0/4406
1 c.334A>G r.(?) p.(Ile112Val) g.100327853A>G Copied from the Exome Variant Server AGL_000029 14/13006 14/8600 0/4406
1 c.341G>A r.(?) p.(Arg114His) g.100327860G>A Copied from the Exome Variant Server AGL_000032 1/13006 0/8600 1/4406
1 c.367C>G r.(?) p.(Pro123Ala) g.100327886C>G Copied from the Exome Variant Server AGL_000033 1/13006 1/8600 0/4406
1 c.368C>T r.(?) p.(Pro123Leu) g.100327887C>T Copied from the Exome Variant Server AGL_000036 2/13006 1/8600 1/4406
1 c.406T>C r.(?) p.(Cys136Arg) g.100327925T>C Copied from the Exome Variant Server AGL_000037 1/13006 0/8600 1/4406
1 c.467A>G r.(?) p.(Asn156Ser) g.100329948A>G Copied from the Exome Variant Server AGL_000038 1/13006 1/8600 0/4406
1 c.609A>G r.(=) p.(=) g.100330090A>G Copied from the Exome Variant Server AGL_000039 1/13006 1/8600 0/4406
1 c.622T>C r.(?) p.(Trp208Arg) g.100330103T>C Copied from the Exome Variant Server AGL_000040 4/13006 3/8600 1/4406
1 c.664+3A>G r.spl? p.? g.100330148A>G Copied from the Exome Variant Server AGL_000041 1/13006 1/8600 0/4406
1 c.664+52C>T r.(=) p.(=) g.100330197C>T Copied from the Exome Variant Server AGL_000042 105/7266 100/4612 5/2654
1 c.665-43A>G r.(=) p.(=) g.100335913A>G Copied from the Exome Variant Server AGL_000043 46/13002 0/8600 46/4402
1 c.665-36T>C r.(=) p.(=) g.100335920T>C Copied from the Exome Variant Server AGL_000044 11/13004 0/8600 11/4404
1 c.675T>C r.(=) p.(=) g.100335966T>C Copied from the Exome Variant Server AGL_000045 1/13006 1/8600 0/4406
1 c.680G>T r.(?) p.(Trp227Leu) g.100335971G>T Copied from the Exome Variant Server AGL_000046 2/13006 2/8600 0/4406
1 c.686A>G r.(?) p.(Gln229Arg) g.100335977A>G Copied from the Exome Variant Server AGL_000047 548/13006 162/8600 386/4406
1 c.736C>T r.(?) p.(Pro246Ser) g.100336027C>T Copied from the Exome Variant Server AGL_000048 1/13006 1/8600 0/4406
1 c.754A>G r.(?) p.(Arg252Gly) g.100336045A>G Copied from the Exome Variant Server AGL_000049 1/13006 0/8600 1/4406
1 c.767G>A r.(?) p.(Arg256His) g.100336058G>A Copied from the Exome Variant Server AGL_000050 1/13006 1/8600 0/4406
1 c.801A>G r.(=) p.(=) g.100336092A>G Copied from the Exome Variant Server AGL_000051 1/13006 1/8600 0/4406
1 c.803A>G r.(?) p.(Glu268Gly) g.100336094A>G Copied from the Exome Variant Server AGL_000052 1/13006 0/8600 1/4406
1 c.846+8T>A r.(=) p.(=) g.100336145T>A Copied from the Exome Variant Server AGL_000053 1/13004 1/8600 0/4404
1 c.846+14G>A r.(=) p.(=) g.100336151G>A Copied from the Exome Variant Server AGL_000054 1/13004 1/8600 0/4404
1 c.846+25C>T r.(=) p.(=) g.100336162C>T Copied from the Exome Variant Server AGL_000055 1/12998 1/8596 0/4402
1 c.846+52A>C r.(=) p.(=) g.100336189A>C Copied from the Exome Variant Server AGL_000056 4/7192 0/4600 4/2592
1 c.847-26_847-25insT r.(=) p.(=) g.100336288_100336289insT Copied from the Exome Variant Server AGL_000057 3/11802 3/8006 0/3796
1 c.854G>A r.(?) p.(Arg285Gln) g.100336321G>A Copied from the Exome Variant Server AGL_000058 2/12670 2/8530 0/4140
1 c.894C>T r.(=) p.(=) g.100336361C>T Copied from the Exome Variant Server AGL_000059 9888/12890 5957/8562 3931/4328
1 c.907C>T r.(?) p.(Gln303*) g.100336374C>T Copied from the Exome Variant Server AGL_000060 1/12896 1/8558 0/4338
1 c.958+47A>C r.(=) p.(=) g.100336472A>C Copied from the Exome Variant Server AGL_000061 1/12498 1/8412 0/4086
1 c.959-18G>A r.(=) p.(=) g.100340225G>A Copied from the Exome Variant Server AGL_000062 9731/13004 6044/8598 3687/4406
1 c.959-3T>A r.spl? p.? g.100340240T>A Copied from the Exome Variant Server AGL_000063 1/13006 0/8600 1/4406
1 c.968G>A r.(?) p.(Arg323Gln) g.100340252G>A Copied from the Exome Variant Server AGL_000064 13/13006 1/8600 12/4406
1 c.1001C>T r.(?) p.(Thr334Met) g.100340285C>T Copied from the Exome Variant Server AGL_000065 1/13006 1/8600 0/4406
1 c.1002G>A r.(=) p.(=) g.100340286G>A Copied from the Exome Variant Server AGL_000066 1/13006 0/8600 1/4406
1 c.1028G>A r.(?) p.(Arg343Gln) g.100340312G>A Copied from the Exome Variant Server AGL_000068 5/13006 5/8600 0/4406
1 c.1033G>A r.(?) p.(Gly345Ser) g.100340317G>A Copied from the Exome Variant Server AGL_000070 1/13006 0/8600 1/4406
1 c.1050G>A r.(?) p.(Met350Ile) g.100340334G>A Copied from the Exome Variant Server AGL_000072 1/13006 1/8600 0/4406
1 c.1073_1074insACC r.(?) p.(Pro359dup) g.100340357_100340358insACC Copied from the Exome Variant Server AGL_000074 1/12520 0/8254 1/4266
1 c.1082+10G>A r.(=) p.(=) g.100340376G>A Copied from the Exome Variant Server AGL_000076 1/13006 0/8600 1/4406
1 c.1082+26_1082+31del r.(=) p.(=) g.100340392_100340397del Copied from the Exome Variant Server AGL_000078 2/12520 0/8254 2/4266
1 c.1082+29_1082+31del r.(=) p.(=) g.100340395_100340397del Copied from the Exome Variant Server AGL_000080 4/12520 0/8254 4/4266
1 c.1083-20C>T r.(=) p.(=) g.100340690C>T Copied from the Exome Variant Server AGL_000082 1/13000 1/8596 0/4404
1 c.1094C>T r.(?) p.(Ala365Val) g.100340721C>T Copied from the Exome Variant Server AGL_000084 1/13004 0/8600 1/4404
1 c.1155G>T r.(?) p.(Lys385Asn) g.100340782G>T Copied from the Exome Variant Server AGL_000067 141/13006 133/8600 8/4406
1 c.1160G>A r.(?) p.(Arg387Gln) g.100340787G>A Copied from the Exome Variant Server AGL_000069 31/13006 17/8600 14/4406
1 c.1165A>T r.(?) p.(Ile389Phe) g.100340792A>T Copied from the Exome Variant Server AGL_000071 1/13006 0/8600 1/4406
1 c.1185+8T>C r.(=) p.(=) g.100340820T>C Copied from the Exome Variant Server AGL_000073 1/13006 1/8600 0/4406
1 c.1185+15T>C r.(=) p.(=) g.100340827T>C Copied from the Exome Variant Server AGL_000075 245/13006 217/8600 28/4406
1 c.1185+47A>G r.(=) p.(=) g.100340859A>G Copied from the Exome Variant Server AGL_000077 1/13006 0/8600 1/4406
1 c.1186-47G>A r.(=) p.(=) g.100340867G>A Copied from the Exome Variant Server AGL_000079 2/13006 0/8600 2/4406
1 c.1186-44G>T r.(=) p.(=) g.100340870G>T Copied from the Exome Variant Server AGL_000081 24/13006 0/8600 24/4406
1 c.1186-9G>A r.(=) p.(=) g.100340905G>A Copied from the Exome Variant Server AGL_000083 1/13006 1/8600 0/4406
1 c.1226T>G r.(?) p.(Leu409Arg) g.100340954T>G Copied from the Exome Variant Server AGL_000085 3/13006 3/8600 0/4406
1 c.1261A>G r.(?) p.(Arg421Gly) g.100340989A>G Copied from the Exome Variant Server AGL_000086 2/13006 0/8600 2/4406
1 c.1284-20A>G r.(=) p.(=) g.100341994A>G Copied from the Exome Variant Server AGL_000087 1/12604 1/8426 0/4178
1 c.1319C>T r.(?) p.(Ser440Phe) g.100342049C>T Copied from the Exome Variant Server AGL_000088 41/13006 0/8600 41/4406
1 c.1333A>G r.(?) p.(Met445Val) g.100342063A>G Copied from the Exome Variant Server AGL_000089 2/13006 0/8600 2/4406
1 c.1386A>C r.(=) p.(=) g.100342116A>C Copied from the Exome Variant Server AGL_000091 1/13006 1/8600 0/4406
1 c.1421C>T r.(?) p.(Pro474Leu) g.100342151C>T Copied from the Exome Variant Server AGL_000093 2/13006 1/8600 1/4406
1 c.1422G>A r.(=) p.(=) g.100342152G>A Copied from the Exome Variant Server AGL_000095 1/13006 1/8600 0/4406
1 c.1424-44A>G r.(=) p.(=) g.100343153A>G Copied from the Exome Variant Server AGL_000097 3678/13002 3224/8596 454/4406
1 c.1424-27A>G r.(=) p.(=) g.100343170A>G Copied from the Exome Variant Server AGL_000099 1/13004 0/8598 1/4406
1 c.1429G>C r.(?) p.(Glu477Gln) g.100343202G>C Copied from the Exome Variant Server AGL_000101 1/13006 1/8600 0/4406
1 c.1437C>A r.(?) p.(Tyr479*) g.100343210C>A Copied from the Exome Variant Server AGL_000103 1/13006 1/8600 0/4406
1 c.1455T>C r.(=) p.(=) g.100343228T>C Copied from the Exome Variant Server AGL_000105 1/13006 0/8600 1/4406
1 c.1458C>T r.(=) p.(=) g.100343231C>T Copied from the Exome Variant Server AGL_000107 1/13006 0/8600 1/4406
1 c.1480C>T r.(?) p.(Arg494Cys) g.100343253C>T Copied from the Exome Variant Server AGL_000109 1/13006 0/8600 1/4406
1 c.1481G>A r.(?) p.(Arg494His) g.100343254G>A Copied from the Exome Variant Server AGL_000111 80/13006 72/8600 8/4406
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