All transcript variants in gene COL4A3

Information The variants shown are described using the NM_000091.4 transcript reference sequence.

389 entries on 4 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.88-34C>G r.(=) p.(=) g.228102650C>G Copied from the Exome Variant Server COL4A3_000001 1/11862 1/8182 0/3680
?/? c.88-23C>T r.(=) p.(=) g.228102661C>T Copied from the Exome Variant Server COL4A3_000002 1/11868 0/8180 1/3688
?/? c.88-4C>T r.spl? p.? g.228102680C>T Copied from the Exome Variant Server COL4A3_000003 17/11838 9/8164 8/3674
?/? c.112C>G r.(?) p.(Gln38Glu) g.228102708C>G Copied from the Exome Variant Server COL4A3_000004 14/11862 0/8170 14/3692
?/? c.126C>T r.(=) p.(=) g.228102722C>T Copied from the Exome Variant Server COL4A3_000005 2/11868 2/8168 0/3700
?/? c.127G>C r.(?) p.(Gly43Arg) g.228102723G>C Copied from the Exome Variant Server COL4A3_000006 4166/11866 3032/8166 1134/3700
?/? c.136G>A r.(?) p.(Gly46Arg) g.228102732G>A Copied from the Exome Variant Server COL4A3_000007 9/11864 0/8166 9/3698
?/? c.140A>G r.(?) p.(Glu47Gly) g.228102736A>G Copied from the Exome Variant Server COL4A3_000008 1/11866 0/8168 1/3698
?/? c.144+12C>A r.(=) p.(=) g.228102752C>A Copied from the Exome Variant Server COL4A3_000010 3376/11854 2409/8172 967/3682
?/? c.144+18T>G r.(=) p.(=) g.228102758T>G Copied from the Exome Variant Server COL4A3_000012 17/11858 0/8174 17/3684
?/? c.144+23C>T r.(=) p.(=) g.228102763C>T Copied from the Exome Variant Server COL4A3_000014 5/11846 0/8172 5/3674
?/? c.145-16G>A r.(=) p.(=) g.228104843G>A Copied from the Exome Variant Server COL4A3_000016 1/12056 1/8248 0/3808
?/? c.171C>T r.(=) p.(=) g.228104885C>T Copied from the Exome Variant Server COL4A3_000018 5/11980 1/8228 4/3752
?/? c.204T>C r.(=) p.(=) g.228104918T>C Copied from the Exome Variant Server COL4A3_000020 4/12032 0/8230 4/3802
?/? c.221C>T r.(?) p.(Pro74Leu) g.228104935C>T Copied from the Exome Variant Server COL4A3_000022 2/12054 0/8234 2/3820
?/? c.222G>T r.(=) p.(=) g.228104936G>T Copied from the Exome Variant Server COL4A3_000024 15/12056 12/8238 3/3818
?/? c.234+17G>A r.(=) p.(=) g.228104965G>A Copied from the Exome Variant Server COL4A3_000026 1/12132 1/8266 0/3866
?/? c.235-51del r.(=) p.(=) g.228108985del Copied from the Exome Variant Server COL4A3_000009 1/11406 1/7836 0/3570
?/? c.235-37C>G r.(=) p.(=) g.228108999C>G Copied from the Exome Variant Server COL4A3_000011 48/11812 0/8154 48/3658
?/? c.235-10T>C r.(=) p.(=) g.228109026T>C Copied from the Exome Variant Server COL4A3_000013 1/11810 1/8150 0/3660
?/? c.247C>G r.(?) p.(Leu83Val) g.228109048C>G Copied from the Exome Variant Server COL4A3_000015 2/11846 2/8168 0/3678
?/? c.260C>T r.(?) p.(Thr87Met) g.228109061C>T Copied from the Exome Variant Server COL4A3_000017 1/11854 0/8166 1/3688
?/? c.261G>C r.(=) p.(=) g.228109062G>C Copied from the Exome Variant Server COL4A3_000019 2/11864 2/8168 0/3696
?/? c.274G>C r.(?) p.(Val92Leu) g.228109075G>C Copied from the Exome Variant Server COL4A3_000021 16/11884 0/8180 16/3704
?/? c.279+1G>A r.spl? p.? g.228109081G>A Copied from the Exome Variant Server COL4A3_000023 1/11898 1/8186 0/3712
?/? c.279+22C>T r.(=) p.(=) g.228109102C>T Copied from the Exome Variant Server COL4A3_000025 1/11922 0/8196 1/3726
?/? c.279+24C>G r.(=) p.(=) g.228109104C>G Copied from the Exome Variant Server COL4A3_000027 1/11918 0/8196 1/3722
?/? c.279+30G>A r.(=) p.(=) g.228109110G>A Copied from the Exome Variant Server COL4A3_000028 2/11910 2/8196 0/3714
?/? c.279+34A>G r.(=) p.(=) g.228109114A>G Copied from the Exome Variant Server COL4A3_000029 1/11922 1/8210 0/3712
?/? c.279+67A>G r.(=) p.(=) g.228109147A>G Copied from the Exome Variant Server COL4A3_000030 1/4566 1/3182 0/1384
?/? c.280-87G>A r.(=) p.(=) g.228109580G>A Copied from the Exome Variant Server COL4A3_000031 4/5734 4/3982 0/1752
?/? c.280-44_280-43insGTT r.(=) p.(=) g.228109623_228109624insGTT Copied from the Exome Variant Server COL4A3_000032 8490/11258 6302/7780 2188/3478
?/? c.280-41dup r.(=) p.(=) g.228109626dup Copied from the Exome Variant Server COL4A3_000033 59/11258 24/7780 35/3478
?/? c.280-41_280-40insG r.(=) p.(=) g.228109626_228109627insG Copied from the Exome Variant Server COL4A3_000034 8625/11258 6408/7780 2217/3478
?/? c.280-22C>T r.(=) p.(=) g.228109645C>T Copied from the Exome Variant Server COL4A3_000035 2/11688 2/8114 0/3574
?/? c.280-11_280-10del r.(=) p.(=) g.228109656_228109657del Copied from the Exome Variant Server COL4A3_000036 6/11244 5/7782 1/3462
?/? c.304T>C r.(?) p.(Ser102Pro) g.228109691T>C Copied from the Exome Variant Server COL4A3_000037 2/11706 2/8126 0/3580
?/? c.324+20C>T r.(=) p.(=) g.228109731C>T Copied from the Exome Variant Server COL4A3_000038 1/11712 0/8122 1/3590
?/? c.324+21G>A r.(=) p.(=) g.228109732G>A Copied from the Exome Variant Server COL4A3_000039 1/11708 0/8122 1/3586
?/? c.324+45C>T r.(=) p.(=) g.228109756C>T Copied from the Exome Variant Server COL4A3_000040 1/11710 1/8120 0/3590
?/? c.324+73C>T r.(=) p.(=) g.228109784C>T Copied from the Exome Variant Server COL4A3_000041 3364/4558 2591/3174 773/1384
?/? c.325-37G>T r.(=) p.(=) g.228110633G>T Copied from the Exome Variant Server COL4A3_000042 23/12040 22/8242 1/3798
?/? c.325-27C>T r.(=) p.(=) g.228110643C>T Copied from the Exome Variant Server COL4A3_000043 115/12056 104/8244 11/3812
?/? c.325-26C>G r.(=) p.(=) g.228110644C>G Copied from the Exome Variant Server COL4A3_000044 1/12054 0/8240 1/3814
?/? c.325-22T>C r.(=) p.(=) g.228110648T>C Copied from the Exome Variant Server COL4A3_000045 1/12062 1/8244 0/3818
?/? c.346C>A r.(?) p.(Pro116Thr) g.228110691C>A Copied from the Exome Variant Server COL4A3_000046 104/12100 91/8256 13/3844
?/? c.388-27T>C r.(=) p.(=) g.228111374T>C Copied from the Exome Variant Server COL4A3_000047 18/11808 18/8170 0/3638
?/? c.394C>T r.(?) p.(Gln132*) g.228111407C>T Copied from the Exome Variant Server COL4A3_000048 1/11832 1/8164 0/3668
?/? c.399G>A r.(=) p.(=) g.228111412G>A Copied from the Exome Variant Server COL4A3_000049 272/11844 0/8168 272/3676
?/? c.422T>C r.(?) p.(Leu141Pro) g.228111435T>C Copied from the Exome Variant Server COL4A3_000050 9128/11848 6759/8166 2369/3682
?/? c.441G>A r.(=) p.(=) g.228111454G>A Copied from the Exome Variant Server COL4A3_000051 1/11866 1/8182 0/3684
?/? c.441+31G>C r.(=) p.(=) g.228111485G>C Copied from the Exome Variant Server COL4A3_000052 1/11902 0/8186 1/3716
?/? c.441+60T>A r.(=) p.(=) g.228111514T>A Copied from the Exome Variant Server COL4A3_000053 1/10300 1/7164 0/3136
?/? c.441+72T>C r.(=) p.(=) g.228111526T>C Copied from the Exome Variant Server COL4A3_000054 1/10300 1/7164 0/3136
?/? c.441+122A>G r.(=) p.(=) g.228111576A>G Copied from the Exome Variant Server COL4A3_000055 1/5734 0/3982 1/1752
?/? c.441+146G>T r.(=) p.(=) g.228111600G>T Copied from the Exome Variant Server COL4A3_000056 4271/5734 3294/3982 977/1752
?/? c.441+150G>T r.(=) p.(=) g.228111604G>T Copied from the Exome Variant Server COL4A3_000057 4272/5734 3293/3982 979/1752
?/? c.442-88A>G r.(=) p.(=) g.228112186A>G Copied from the Exome Variant Server COL4A3_000058 4452/4566 3083/3182 1369/1384
?/? c.442-63G>C r.(=) p.(=) g.228112211G>C Copied from the Exome Variant Server COL4A3_000059 53/4566 0/3182 53/1384
?/? c.442-44C>T r.(=) p.(=) g.228112230C>T Copied from the Exome Variant Server COL4A3_000060 1/12492 0/8382 1/4110
?/? c.468+8A>G r.(=) p.(=) g.228112308A>G Copied from the Exome Variant Server COL4A3_000062 3/12140 0/8266 3/3874
?/? c.468+58C>T r.(=) p.(=) g.228112358C>T Copied from the Exome Variant Server COL4A3_000064 2/4566 2/3182 0/1384
?/? c.468+72T>C r.(=) p.(=) g.228112372T>C Copied from the Exome Variant Server COL4A3_000066 14/4566 0/3182 14/1384
?/? c.469-143A>T r.(=) p.(=) g.228113016A>T Copied from the Exome Variant Server COL4A3_000068 52/5718 47/3970 5/1748
?/? c.469-113A>G r.(=) p.(=) g.228113046A>G Copied from the Exome Variant Server COL4A3_000070 4/5730 0/3980 4/1750
?/? c.469-94T>G r.(=) p.(=) g.228113065T>G Copied from the Exome Variant Server COL4A3_000072 10/5732 0/3980 10/1752
?/? c.469-53G>T r.(=) p.(=) g.228113106G>T Copied from the Exome Variant Server COL4A3_000074 100/10300 91/7164 9/3136
?/? c.481A>G r.(?) p.(Lys161Glu) g.228113171A>G Copied from the Exome Variant Server COL4A3_000061 1/11798 0/8162 1/3636
?/? c.485A>G r.(?) p.(Glu162Gly) g.228113175A>G Copied from the Exome Variant Server COL4A3_000063 9086/11798 6760/8164 2326/3634
?/? c.494T>C r.(?) p.(Ile165Thr) g.228113184T>C Copied from the Exome Variant Server COL4A3_000065 2/11788 0/8158 2/3630
?/? c.497A>G r.(?) p.(Glu166Gly) g.228113187A>G Copied from the Exome Variant Server COL4A3_000067 1/11786 0/8158 1/3628
?/? c.513C>T r.(=) p.(=) g.228113203C>T Copied from the Exome Variant Server COL4A3_000069 2/11796 2/8166 0/3630
?/? c.514G>A r.(?) p.(Asp172Asn) g.228113204G>A Copied from the Exome Variant Server COL4A3_000071 2/11800 1/8166 1/3634
?/? c.532G>A r.(?) p.(Ala178Thr) g.228113222G>A Copied from the Exome Variant Server COL4A3_000073 2/11818 0/8160 2/3658
?/? c.546+57_546+58del r.(=) p.(=) g.228113293_228113294del Copied from the Exome Variant Server COL4A3_000075 15/11350 4/7830 11/3520
?/? c.547-45G>A r.(=) p.(=) g.228115811G>A Copied from the Exome Variant Server COL4A3_000076 1/11758 1/8138 0/3620
?/? c.547-26_547-23del r.(=) p.(=) g.228115830_228115833del Copied from the Exome Variant Server COL4A3_000077 2/11326 0/7814 2/3512
?/? c.547-9A>C r.(=) p.(=) g.228115847A>C Copied from the Exome Variant Server COL4A3_000078 113/11760 103/8146 10/3614
?/? c.568T>C r.(?) p.(Phe190Leu) g.228115877T>C Copied from the Exome Variant Server COL4A3_000079 1/11742 0/8138 1/3604
?/? c.573T>C r.(=) p.(=) g.228115882T>C Copied from the Exome Variant Server COL4A3_000080 7/11738 0/8138 7/3600
?/? c.599C>T r.(?) p.(Pro200Leu) g.228115908C>T Copied from the Exome Variant Server COL4A3_000081 2/11746 0/8140 2/3606
?/? c.600G>A r.(=) p.(=) g.228115909G>A Copied from the Exome Variant Server COL4A3_000082 1/11736 1/8134 0/3602
?/? c.610-36T>A r.(=) p.(=) g.228116016T>A Copied from the Exome Variant Server COL4A3_000083 2/11782 2/8152 0/3630
?/? c.610-29C>G r.(=) p.(=) g.228116023C>G Copied from the Exome Variant Server COL4A3_000084 1/11796 1/8154 0/3642
?/? c.646-14G>A r.(=) p.(=) g.228117998G>A Copied from the Exome Variant Server COL4A3_000085 1/11692 0/8116 1/3576
?/? c.672A>G r.(=) p.(=) g.228118038A>G Copied from the Exome Variant Server COL4A3_000086 1/11726 0/8136 1/3590
?/? c.675T>G r.(?) p.(His225Gln) g.228118041T>G Copied from the Exome Variant Server COL4A3_000087 1/11726 1/8136 0/3590
?/? c.687+32G>A r.(=) p.(=) g.228118085G>A Copied from the Exome Variant Server COL4A3_000088 8/11758 1/8140 7/3618
?/? c.687+68C>T r.(=) p.(=) g.228118121C>T Copied from the Exome Variant Server COL4A3_000089 1/10300 0/7164 1/3136
?/? c.687+69G>A r.(=) p.(=) g.228118122G>A Copied from the Exome Variant Server COL4A3_000090 181/10300 45/7164 136/3136
?/? c.687+78C>T r.(=) p.(=) g.228118131C>T Copied from the Exome Variant Server COL4A3_000091 2/10300 2/7164 0/3136
?/? c.687+79G>A r.(=) p.(=) g.228118132G>A Copied from the Exome Variant Server COL4A3_000092 2/10300 1/7164 1/3136
?/? c.687+103T>A r.(=) p.(=) g.228118156T>A Copied from the Exome Variant Server COL4A3_000093 342/5734 202/3982 140/1752
?/? c.688-108T>G r.(=) p.(=) g.228118169T>G Copied from the Exome Variant Server COL4A3_000094 1/5734 0/3982 1/1752
?/? c.688-65C>T r.(=) p.(=) g.228118212C>T Copied from the Exome Variant Server COL4A3_000095 1/5734 1/3982 0/1752
?/? c.688-55T>A r.(=) p.(=) g.228118222T>A Copied from the Exome Variant Server COL4A3_000096 1/10300 1/7164 0/3136
?/? c.699G>T r.(=) p.(=) g.228118288G>T Copied from the Exome Variant Server COL4A3_000097 1/11958 1/8196 0/3762
?/? c.717A>G r.(=) p.(=) g.228118306A>G Copied from the Exome Variant Server COL4A3_000098 1/12002 1/8216 0/3786
?/? c.765+11G>A r.(=) p.(=) g.228118365G>A Copied from the Exome Variant Server COL4A3_000099 1/12226 0/8300 1/3926
?/? c.765+38C>T r.(=) p.(=) g.228118392C>T Copied from the Exome Variant Server COL4A3_000100 1/12294 1/8326 0/3968
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