Unique variants in gene AGL

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

97 entries on 1 page. Showing entries 1 - 97.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.-10A>G r.(=) p.(=) g.100316589A>G - AGL_000001 rs2307130 0.448 231 516 4767 - - Admin
./. 1 - c.82+85C>T r.(=) p.(=) g.100316765C>T - AGL_000002 rs663848 0.741 381 514 2802 - - Admin
./. 1 - c.82+1433G>T r.(=) p.(=) g.100318113G>T - AGL_000003 rs79242623 0.018 4 222 587 - - Admin
./. 1 - c.82+1435A>T r.(=) p.(=) g.100318115A>T - AGL_000004 rs1320681069 0.014 4 284 623 2 1 Admin
./. 1 - c.82+1565T>G r.(=) p.(=) g.100318245T>G - AGL_000005 rs145049634 0.012 6 516 3940 - - Admin
./. 1 - c.83-93C>G r.(=) p.(=) g.100326966C>G - AGL_000006 rs41285736 0.014 7 516 1653 - - Admin
./. 1 - c.83-33C>T r.(=) p.(=) g.100327026C>T - AGL_000007 rs2307129 0.207 107 516 4501 - - Admin
./. 1 - c.112A>G r.(?) p.(Thr38Ala) g.100327088A>G - AGL_000008 rs35278779 0.003876 2 516 6633 - - Admin
./. 1 - c.207T>C r.(=) p.(=) g.100327183T>C - AGL_000009 rs2230305 0.014 7 516 5321 - - Admin
./. 1 - c.460+47A>G r.(=) p.(=) g.100328026A>G - AGL_000010 rs781169122 0.001969 1 508 1717 - - Admin
./. 1 - c.460+81T>G r.(=) p.(=) g.100328060T>G - AGL_000011 rs114575037 0.013 6 478 910 - - Admin
./. 1 - c.461-117G>T r.(=) p.(=) g.100329825G>T - AGL_000012 rs534662 0.009843 5 508 1559 - - Admin
./. 1 - c.461-53G>C r.(=) p.(=) g.100329889G>C - AGL_000013 rs535461 0.717 370 516 5794 - - Admin
./. 1 - c.461G>A r.(?) p.(Gly154Asp) g.100329942G>A - AGL_000014 rs199622995 0.001938 1 516 8702 - - Admin
./. 1 - c.665-73A>G r.(=) p.(=) g.100335883A>G - AGL_000015 rs903126 0.407 207 508 2072 - - Admin
./. 1 - c.686A>G r.(?) p.(Gln229Arg) g.100335977A>G - AGL_000016 rs17121403 0.048 25 516 7540 - - Admin
./. 1 - c.846+34_846+35del r.(=) p.(=) g.100336171_100336172del - AGL_000017 rs759192138 0.005814 3 516 3717 - - Admin
./. 1 - c.894C>T r.(=) p.(=) g.100336361C>T - AGL_000018 rs2230306 0.746 385 516 4759 - - Admin
./. 1 - c.959-53A>T r.(=) p.(=) g.100340190A>T - AGL_000019 rs184400307 0.00969 5 516 2837 - - Admin
./. 1 - c.959-19_959-18insATCTTTTCTTTCTTTTA r.(=) p.(=) g.100340224_100340225insATCTTTTCTTTCTTTTA - AGL_000020 rs761998241 - - - - - - Admin
./. 1 - c.959-18G>A r.(=) p.(=) g.100340225G>A - AGL_000021 rs634880 0.736 380 516 4536 - - Admin
./. 1 - c.959-18_959-17insAAAATAGTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCA r.(=) p.(=) g.100340225_100340226insAAAATAGTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCA - AGL_000022 rs634880 - - - - - - Admin
./. 1 - c.968G>A r.(?) p.(Arg323Gln) g.100340252G>A - AGL_000023 rs139399527 0.003876 2 516 5410 - - Admin
./. 1 - c.1065G>A r.(=) p.(=) g.100340349G>A - AGL_000024 rs764914308 0.001938 1 516 4755 - - Admin
./. 1 - c.1082+76_1082+78del r.(=) p.(=) g.100340442_100340444del - AGL_000025 rs113437474 0.002024 1 494 1381 - - Admin
./. 1 - c.1082+88G>A r.(=) p.(=) g.100340454G>A - AGL_000026 rs142990156 0.006198 3 484 1134 - - Admin
./. 1 - c.1082+95A>G r.(=) p.(=) g.100340461A>G - AGL_000027 rs542376409 0.002137 1 468 1094 - - Admin
./. 1 - c.1155G>T r.(?) p.(Lys385Asn) g.100340782G>T - AGL_000028 rs28730701 0.012 6 516 6273 - - Admin
./. 1 - c.1160G>A r.(?) p.(Arg387Gln) g.100340787G>A - AGL_000029 rs17121464 0.023 12 516 6355 - - Admin
./. 1 - c.1185+15T>C r.(=) p.(=) g.100340827T>C - AGL_000030 rs17121466 0.021 11 516 6465 - - Admin
./. 1 - c.1423+74C>T r.(=) p.(=) g.100342227C>T - AGL_000031 rs3736295 0.516 266 516 2941 - - Admin
./. 1 - c.1424-44A>G r.(=) p.(=) g.100343153A>G - AGL_000032 rs2291638 0.318 164 516 3762 - - Admin
./. 1 - c.1481G>A r.(?) p.(Arg494His) g.100343254G>A - AGL_000033 rs141043166 0.001938 1 516 8135 - - Admin
./. 1 - c.1611+87T>G r.(=) p.(=) g.100343471T>G - AGL_000034 rs1024230430 0.001976 1 506 1993 1 - Admin
./. 1 - c.1612-70C>G r.(=) p.(=) g.100345409C>G - AGL_000035 rs2392077 0.476 236 496 1732 - - Admin
./. 1 - c.1612-35T>C r.(=) p.(=) g.100345444T>C - AGL_000036 - 0.001938 1 516 2839 1 - Admin
./. 1 - c.1612-24C>A r.(=) p.(=) g.100345455C>A - AGL_000037 rs115666491 0.012 6 516 3270 - - Admin
./. 1 - c.1736-42T>C r.(=) p.(=) g.100346146T>C - AGL_000038 rs1305422723 0.001938 1 516 4546 1 - Admin
./. 1 - c.1875G>T r.(=) p.(=) g.100346327G>T - AGL_000039 rs141944878 0.001938 1 516 8685 - - Admin
./. 1 - c.1885G>A r.(?) p.(Glu629Lys) g.100346337G>A - AGL_000040 rs146041189 0.001938 1 516 8452 - - Admin
./. 1 - c.2001+3T>G r.spl? p.? g.100346736T>G - AGL_000041 rs1392738838 0.001938 1 516 6115 1 - Admin
./. 1 - c.2001+8T>C r.(=) p.(=) g.100346741T>C - AGL_000042 rs3736296 0.517 267 516 6142 - - Admin
./. 1 - c.2002-55A>T r.(=) p.(=) g.100346793A>T - AGL_000043 rs74855268 0.001938 1 516 5916 - - Admin
./. 1 - c.2308+85A>G r.(=) p.(=) g.100347332A>G - AGL_000044 rs962301556 0.002083 1 480 1102 1 - Admin
./. 1 - c.2390A>G r.(?) p.(Asn797Ser) g.100349757A>G - AGL_000045 rs149210307 0.001938 1 516 5959 - - Admin
./. 1 - c.2522C>T r.(?) p.(Ser841Phe) g.100349983C>T - AGL_000046 rs150441555 0.001946 1 514 4901 - - Admin
./. 1 - c.2546+10T>C r.(=) p.(=) g.100350017T>C - AGL_000047 rs74551473 0.003876 2 516 4628 - - Admin
./. 1 - c.2574C>T r.(=) p.(=) g.100350152C>T - AGL_000048 rs772038934 0.001938 1 516 6988 - - Admin
./. 1 - c.2607A>G r.(=) p.(=) g.100350185A>G - AGL_000049 rs747817359 0.001938 1 516 7550 - - Admin
./. 1 - c.2681+58C>T r.(=) p.(=) g.100350317C>T - AGL_000050 rs28730703 0.003876 2 516 3482 - - Admin
./. 1 - c.2681+124G>A r.(=) p.(=) g.100350383G>A - AGL_000051 rs2234707 0.492 244 496 1646 - - Admin
./. 1 - c.2682-39A>T r.(=) p.(=) g.100353495A>T - AGL_000052 rs78318902 0.001938 1 516 4230 - - Admin
./. 1 - c.2812+11G>A r.(=) p.(=) g.100353675G>A - AGL_000053 rs555929 0.655 338 516 12001 - - Admin
./. 1 - c.2812+96A>G r.(=) p.(=) g.100353760A>G - AGL_000054 rs145604857 0.005814 3 516 4749 - - Admin
./. 1 - c.2813-126G>A r.(=) p.(=) g.100356650G>A - AGL_000055 rs143427634 0.003876 2 516 2534 - - Admin
./. 1 - c.2813-110C>T r.(=) p.(=) g.100356666C>T - AGL_000056 rs12086095 0.012 6 516 3037 - - Admin
./. 1 - c.2813-109G>A r.(=) p.(=) g.100356667G>A - AGL_000057 rs1180491473 0.001938 1 516 3091 1 - Admin
./. 1 - c.2813-23A>G r.(=) p.(=) g.100356753A>G - AGL_000058 rs76758694 0.001938 1 516 7572 - - Admin
./. 1 - c.2883A>G r.(=) p.(=) g.100356846A>G - AGL_000059 rs113625417 0.001938 1 516 7603 - - Admin
./. 1 - c.2885C>G r.(?) p.(Ser962Cys) g.100356848C>G - AGL_000060 rs34714252 0.003876 2 516 7573 - - Admin
./. 1 - c.2950-21T>A r.(=) p.(=) g.100357141T>A - AGL_000061 rs2035961 0.492 253 514 2529 - - Admin
./. 1 - c.3083+84C>A r.(=) p.(=) g.100357379C>A - AGL_000062 rs377410347 0.001938 1 516 3162 - - Admin
./. 1 - c.3199C>T r.(?) p.(Pro1067Ser) g.100358103C>T - AGL_000063 rs3753494 0.136 70 516 6671 - - Admin
./. 1 - c.3259+26A>G r.(=) p.(=) g.100358189A>G - AGL_000064 rs12073608 0.003876 2 516 2717 - - Admin
./. 1 - c.3259+37G>A r.(=) p.(=) g.100358200G>A - AGL_000065 rs594249 0.628 323 514 2386 - - Admin
./. 1 - c.3259+50G>A r.(=) p.(=) g.100358213G>A - AGL_000066 rs372655553 0.001961 1 510 1671 - - Admin
./. 1 - c.3260-20T>C r.(=) p.(=) g.100361822T>C - AGL_000067 rs17121560 0.003876 2 516 3192 - - Admin
./. 1 - c.3260-19G>A r.(=) p.(=) g.100361823G>A - AGL_000068 rs140333425 0.012 6 516 3241 - - Admin
./. 1 - c.3343G>A r.(?) p.(Gly1115Arg) g.100361925G>A - AGL_000069 rs2230307 0.047 24 516 7292 - - Admin
./. 1 - c.3362+22T>A r.(=) p.(=) g.100361966T>A - AGL_000070 rs79435569 0.001938 1 516 6721 - - Admin
./. 1 - c.3363-51A>G r.(=) p.(=) g.100366141A>G - AGL_000071 rs572231 0.012 6 516 3906 - - Admin
./. 1 - c.3384G>A r.(=) p.(=) g.100366213G>A - AGL_000072 rs149393587 0.001938 1 516 8025 - - Admin
./. 1 - c.3588+30_3588+31del r.(=) p.(=) g.100366447_100366448del - AGL_000073 rs1491160354 0.001938 1 516 3091 1 - Admin
./. 1 - c.3588+31del r.(=) p.(=) g.100366448del - AGL_000074 rs1491160354 0.001938 1 516 3091 1 - Admin
./. 1 - c.3588+36T>G r.(=) p.(=) g.100366453T>G - AGL_000075 rs548255 0.016 8 496 1641 - - Admin
./. 1 - c.3619G>A r.(?) p.(Ala1207Thr) g.100368269G>A - AGL_000076 rs11807956 0.007752 4 516 9229 - - Admin
./. 1 - c.3635T>C r.(?) p.(Met1212Thr) g.100368285T>C - AGL_000077 rs779439947 0.003876 2 516 9227 - - Admin
./. 1 - c.3700+32T>C r.(=) p.(=) g.100368382T>C - AGL_000078 rs834575 0.031 16 516 6542 - - Admin
./. 1 - c.3700+43T>A r.(=) p.(=) g.100368393T>A - AGL_000079 - 0.001938 1 516 5554 1 - Admin
./. 1 - c.3764A>G r.(?) p.(Asn1255Ser) g.100376331A>G - AGL_000080 rs138134718 0.001938 1 516 4613 - - Admin
./. 1 - c.3836+45G>A r.(=) p.(=) g.100376448G>A - AGL_000081 rs2274570 0.467 241 516 3265 - - Admin
./. 1 - c.3836+53T>A r.(=) p.(=) g.100376456T>A - AGL_000082 rs1541041 0.469 242 516 2952 - - Admin
./. 1 - c.3837-67G>A r.(=) p.(=) g.100377894G>A - AGL_000083 rs190328362 0.003876 2 516 2466 - - Admin
./. 1 - c.3837-41G>A r.(=) p.(=) g.100377920G>A - AGL_000084 rs943308747 0.001938 1 516 3604 1 - Admin
./. 1 - c.3849T>C r.(=) p.(=) g.100377973T>C - AGL_000085 rs28730706 0.012 6 516 5573 - - Admin
./. 1 - c.3949+62G>A r.(=) p.(=) g.100378135G>A - AGL_000086 rs79794510 0.003906 2 512 1527 - - Admin
./. 1 - c.3949+67C>T r.(=) p.(=) g.100378140C>T - AGL_000087 rs143209332 0.001953 1 512 1417 - - Admin
./. 1 - c.4027G>A r.(?) p.(Glu1343Lys) g.100379160G>A - AGL_000088 rs112795811 0.001938 1 516 5616 - - Admin
./. 1 - c.4161+24A>G r.(=) p.(=) g.100379318A>G - AGL_000089 - 0.001938 1 516 3421 1 - Admin
./. 1 - c.4162-89T>A r.(=) p.(=) g.100380856T>A - AGL_000090 rs28730707 0.007813 4 512 1741 - - Admin
./. 1 - c.4164C>G r.(=) p.(=) g.100380947C>G - AGL_000091 rs142809832 0.007752 4 516 4041 - - Admin
./. 1 - c.4259+67_4259+68insT r.(=) p.(=) g.100381109_100381110insT - AGL_000092 rs112476688 - - - - - - Admin
./. 1 - c.4260-97G>A r.(=) p.(=) g.100381869G>A - AGL_000093 rs2296885 0.305 135 442 818 - - Admin
./. 1 - c.4331A>G r.(?) p.(Asn1444Ser) g.100382037A>G - AGL_000094 rs143815159 0.001938 1 516 4418 - - Admin
./. 1 - c.4430C>G r.(?) p.(Thr1477Ser) g.100382236C>G - AGL_000095 rs78348923 0.001938 1 516 5478 - - Admin
./. 1 - c.4481+94A>G r.(=) p.(=) g.100382381A>G - AGL_000096 rs150860440 0.001969 1 508 1585 - - Admin
./. 1 - c.4575T>A r.(=) p.(=) g.100387183T>A - AGL_000097 rs372116308 0.001938 1 516 7308 - - Admin
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