Unique variants in gene COL4A5

Information The variants shown are described using the NM_000495.4 transcript reference sequence.

245 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.-35G>A r.(=) p.(=) g.107683321G>A Copied from the Exome Variant Server COL4A5_000001 1/10563 0/6728 1/3835
1 c.-30T>A r.(=) p.(=) g.107683326T>A Copied from the Exome Variant Server COL4A5_000002 5/10563 0/6728 5/3835
1 c.-27T>C r.(=) p.(=) g.107683329T>C Copied from the Exome Variant Server COL4A5_000003 5/10563 0/6728 5/3835
1 c.-16C>T r.(=) p.(=) g.107683340C>T Copied from the Exome Variant Server COL4A5_000004 4/10563 4/6728 0/3835
1 c.-13G>A r.(=) p.(=) g.107683343G>A Copied from the Exome Variant Server COL4A5_000005 1/10563 1/6728 0/3835
1 c.31G>A r.(?) p.(Gly11Ser) g.107683386G>A Copied from the Exome Variant Server COL4A5_000006 1/10563 0/6728 1/3835
1 c.81+37C>G r.(=) p.(=) g.107683473C>G Copied from the Exome Variant Server COL4A5_000007 5/10563 0/6728 5/3835
1 c.81+44A>G r.(=) p.(=) g.107683480A>G Copied from the Exome Variant Server COL4A5_000008 1/10562 1/6728 0/3834
1 c.81+58del r.(=) p.(=) g.107683494del Copied from the Exome Variant Server COL4A5_000010 260/9926 180/6343 80/3583
1 c.81+58dup r.(=) p.(=) g.107683494dup Copied from the Exome Variant Server COL4A5_000009 361/9926 209/6343 152/3583
1 c.82-28_82-27insT r.(=) p.(=) g.107782948_107782949insT Copied from the Exome Variant Server COL4A5_000011 1/10205 0/6484 1/3721
1 c.89A>G r.(?) p.(Tyr30Cys) g.107782983A>G Copied from the Exome Variant Server COL4A5_000012 2/10563 2/6728 0/3835
1 c.124G>A r.(?) p.(Gly42Ser) g.107783018G>A Copied from the Exome Variant Server COL4A5_000013 1/10563 0/6728 1/3835
1 c.142-26T>C r.(=) p.(=) g.107802268T>C Copied from the Exome Variant Server COL4A5_000014 1/10563 1/6728 0/3835
1 c.142-24C>T r.(=) p.(=) g.107802270C>T Copied from the Exome Variant Server COL4A5_000015 1/10563 1/6728 0/3835
1 c.172C>T r.(?) p.(His58Tyr) g.107802324C>T Copied from the Exome Variant Server COL4A5_000016 1/10563 1/6728 0/3835
1 c.221G>T r.(?) p.(Arg74Leu) g.107802373G>T Copied from the Exome Variant Server COL4A5_000017 1/10563 1/6728 0/3835
1 c.231+3A>G r.spl? p.? g.107802386A>G Copied from the Exome Variant Server COL4A5_000018 1/10563 1/6728 0/3835
1 c.231+10A>G r.(=) p.(=) g.107802393A>G Copied from the Exome Variant Server COL4A5_000019 1/10563 1/6728 0/3835
1 c.231+23G>A r.(=) p.(=) g.107802406G>A Copied from the Exome Variant Server COL4A5_000020 1/10563 0/6728 1/3835
1 c.231+47C>T r.(=) p.(=) g.107802430C>T Copied from the Exome Variant Server COL4A5_000021 1/10562 0/6727 1/3835
1 c.232-33C>T r.(=) p.(=) g.107807079C>T Copied from the Exome Variant Server COL4A5_000022 1/10562 1/6727 0/3835
1 c.232-29_232-28insA r.(=) p.(=) g.107807083_107807084insA Copied from the Exome Variant Server COL4A5_000023 1/10203 1/6482 0/3721
1 c.232-17A>C r.(=) p.(=) g.107807095A>C Copied from the Exome Variant Server COL4A5_000024 49/10561 0/6726 49/3835
1 c.276+45_276+48del r.(=) p.(=) g.107807201_107807204del Copied from the Exome Variant Server COL4A5_000025 1/10201 0/6480 1/3721
1 c.276+69T>C r.(=) p.(=) g.107807225T>C Copied from the Exome Variant Server COL4A5_000026 57/3598 51/2389 6/1209
1 c.277-3T>C r.spl? p.? g.107811856T>C Copied from the Exome Variant Server COL4A5_000027 1/10561 0/6726 1/3835
1 c.309A>C r.(=) p.(=) g.107811891A>C Copied from the Exome Variant Server COL4A5_000028 1/10563 0/6728 1/3835
1 c.319C>T r.(?) p.(Pro107Ser) g.107811901C>T Copied from the Exome Variant Server COL4A5_000029 1/10563 1/6728 0/3835
1 c.322-41A>C r.(=) p.(=) g.107811948A>C Copied from the Exome Variant Server COL4A5_000030 3/10563 2/6728 1/3835
1 c.348A>G r.(=) p.(=) g.107812015A>G Copied from the Exome Variant Server COL4A5_000031 1/10563 0/6728 1/3835
1 c.361A>G r.(?) p.(Ile121Val) g.107812028A>G Copied from the Exome Variant Server COL4A5_000032 1/10563 1/6728 0/3835
1 c.405C>T r.(=) p.(=) g.107814663C>T Copied from the Exome Variant Server COL4A5_000033 1/10563 1/6728 0/3835
1 c.411C>T r.(=) p.(=) g.107814669C>T Copied from the Exome Variant Server COL4A5_000034 1/10563 1/6728 0/3835
1 c.438+36G>T r.(=) p.(=) g.107814732G>T Copied from the Exome Variant Server COL4A5_000035 1183/10562 11/6727 1172/3835
1 c.439-40C>G r.(=) p.(=) g.107815001C>G Copied from the Exome Variant Server COL4A5_000036 3/10547 3/6721 0/3826
1 c.439-37A>C r.(=) p.(=) g.107815004A>C Copied from the Exome Variant Server COL4A5_000037 3/10548 0/6720 3/3828
1 c.439-21C>A r.(=) p.(=) g.107815020C>A Copied from the Exome Variant Server COL4A5_000038 1/10549 0/6725 1/3824
1 c.465+64A>G r.(=) p.(=) g.107815131A>G Copied from the Exome Variant Server COL4A5_000039 7/3600 0/2391 7/1209
1 c.488T>C r.(?) p.(Met163Thr) g.107816826T>C Copied from the Exome Variant Server COL4A5_000040 2/10563 2/6728 0/3835
1 c.546+15A>T r.(=) p.(=) g.107816899A>T Copied from the Exome Variant Server COL4A5_000041 1/10563 0/6728 1/3835
1 c.547-45_547-44insG r.(=) p.(=) g.107819095_107819096insG Copied from the Exome Variant Server COL4A5_000042 163/10164 75/6454 88/3710
1 c.547-38_547-37insT r.(=) p.(=) g.107819102_107819103insT Copied from the Exome Variant Server COL4A5_000043 195/10174 114/6462 81/3712
1 c.568A>G r.(?) p.(Ile190Val) g.107819161A>G Copied from the Exome Variant Server COL4A5_000044 1/10563 1/6728 0/3835
1 c.580A>G r.(?) p.(Ile194Val) g.107819173A>G Copied from the Exome Variant Server COL4A5_000045 3/10563 2/6728 1/3835
1 c.609+21T>C r.(=) p.(=) g.107819223T>C Copied from the Exome Variant Server COL4A5_000046 1522/10561 1277/6726 245/3835
1 c.609+30C>T r.(=) p.(=) g.107819232C>T Copied from the Exome Variant Server COL4A5_000047 1/10557 1/6722 0/3835
1 c.610-13C>T r.(=) p.(=) g.107821169C>T Copied from the Exome Variant Server COL4A5_000048 1/10517 0/6713 1/3804
1 c.645+37G>A r.(=) p.(=) g.107821254G>A Copied from the Exome Variant Server COL4A5_000049 1/10535 0/6716 1/3819
1 c.646-33G>A r.(=) p.(=) g.107821275G>A Copied from the Exome Variant Server COL4A5_000050 1/10528 0/6715 1/3813
1 c.646-6C>T r.(=) p.(=) g.107821302C>T Copied from the Exome Variant Server COL4A5_000051 3/10511 0/6714 3/3797
1 c.650A>G r.(?) p.(Asn217Ser) g.107821312A>G Copied from the Exome Variant Server COL4A5_000052 1/10516 1/6715 0/3801
1 c.687+19C>A r.(=) p.(=) g.107821368C>A Copied from the Exome Variant Server COL4A5_000053 1/10503 0/6708 1/3795
1 c.688-47T>C r.(=) p.(=) g.107821474T>C Copied from the Exome Variant Server COL4A5_000054 8/10563 0/6728 8/3835
1 c.688-11C>T r.(=) p.(=) g.107821510C>T Copied from the Exome Variant Server COL4A5_000055 3/10563 3/6728 0/3835
1 c.779A>G r.(?) p.(Gln260Arg) g.107821612A>G Copied from the Exome Variant Server COL4A5_000056 1/10563 1/6728 0/3835
1 c.780+7A>G r.(=) p.(=) g.107821620A>G Copied from the Exome Variant Server COL4A5_000057 1/10563 0/6728 1/3835
1 c.780+26G>T r.(=) p.(=) g.107821639G>T Copied from the Exome Variant Server COL4A5_000058 1/10563 1/6728 0/3835
1 c.823C>T r.(?) p.(Arg275Cys) g.107823805C>T Copied from the Exome Variant Server COL4A5_000059 1/10563 1/6728 0/3835
1 c.834+8C>A r.(=) p.(=) g.107823824C>A Copied from the Exome Variant Server COL4A5_000060 8/10563 0/6728 8/3835
1 c.834+32A>T r.(=) p.(=) g.107823848A>T Copied from the Exome Variant Server COL4A5_000061 1/10563 0/6728 1/3835
1 c.880C>T r.(?) p.(Pro294Ser) g.107823957C>T Copied from the Exome Variant Server COL4A5_000062 1/10563 0/6728 1/3835
1 c.891+13A>G r.(=) p.(=) g.107823981A>G Copied from the Exome Variant Server COL4A5_000063 1/10563 0/6728 1/3835
1 c.891+37A>G r.(=) p.(=) g.107824005A>G Copied from the Exome Variant Server COL4A5_000064 1284/10563 11/6728 1273/3835
1 c.891+45_891+46del r.(=) p.(=) g.107824013_107824014del Copied from the Exome Variant Server COL4A5_000065 56/10205 45/6484 11/3721
1 c.891+50G>A r.(=) p.(=) g.107824018G>A Copied from the Exome Variant Server COL4A5_000066 14/10563 0/6728 14/3835
1 c.892-32T>G r.(=) p.(=) g.107824181T>G Copied from the Exome Variant Server COL4A5_000067 1/10563 1/6728 0/3835
1 c.892-22A>G r.(=) p.(=) g.107824191A>G Copied from the Exome Variant Server COL4A5_000068 4/10563 0/6728 4/3835
1 c.899C>T r.(?) p.(Pro300Leu) g.107824220C>T Copied from the Exome Variant Server COL4A5_000069 1/10563 1/6728 0/3835
1 c.937-42C>T r.(=) p.(=) g.107826072C>T Copied from the Exome Variant Server COL4A5_000070 1/10563 1/6728 0/3835
1 c.937-20C>G r.(=) p.(=) g.107826094C>G Copied from the Exome Variant Server COL4A5_000071 1/10563 0/6728 1/3835
1 c.942G>A r.(=) p.(=) g.107826119G>A Copied from the Exome Variant Server COL4A5_000072 1/10563 0/6728 1/3835
1 c.990+22A>G r.(=) p.(=) g.107826189A>G Copied from the Exome Variant Server COL4A5_000073 1/10561 0/6726 1/3835
1 c.990+25G>A r.(=) p.(=) g.107826192G>A Copied from the Exome Variant Server COL4A5_000074 5/10561 0/6726 5/3835
1 c.1032+6del r.(=) p.(=) g.107827761del Copied from the Exome Variant Server COL4A5_000076 2106/10203 1376/6482 730/3721
1 c.1032+6dup r.(=) p.(=) g.107827761dup Copied from the Exome Variant Server COL4A5_000075 372/10203 237/6482 135/3721
1 c.1032+11T>A r.(=) p.(=) g.107827766T>A Copied from the Exome Variant Server COL4A5_000077 2/10563 2/6728 0/3835
1 c.1032+25G>A r.(=) p.(=) g.107827780G>A Copied from the Exome Variant Server COL4A5_000078 1288/10559 11/6724 1277/3835
1 c.1033-25A>C r.(=) p.(=) g.107829820A>C Copied from the Exome Variant Server COL4A5_000079 3/10552 3/6723 0/3829
1 c.1033-24_1033-23del r.(=) p.(=) g.107829821_107829822del Copied from the Exome Variant Server COL4A5_000080 6/10184 6/6471 0/3713
1 c.1033-23del r.(=) p.(=) g.107829822del Copied from the Exome Variant Server COL4A5_000081 120/10184 85/6471 35/3713
1 c.1040C>T r.(?) p.(Pro347Leu) g.107829852C>T Copied from the Exome Variant Server COL4A5_000082 1/10559 1/6726 0/3833
1 c.1043G>A r.(?) p.(Arg348Lys) g.107829855G>A Copied from the Exome Variant Server COL4A5_000083 1/10561 1/6726 0/3835
1 c.1095G>C r.(=) p.(=) g.107829907G>C Copied from the Exome Variant Server COL4A5_000084 1315/10563 11/6728 1304/3835
1 c.1184C>T r.(?) p.(Pro395Leu) g.107834306C>T Copied from the Exome Variant Server COL4A5_000085 1/10563 0/6728 1/3835
1 c.1187C>T r.(?) p.(Pro396Leu) g.107834309C>T Copied from the Exome Variant Server COL4A5_000086 4/10563 0/6728 4/3835
1 c.1275C>T r.(=) p.(=) g.107834397C>T Copied from the Exome Variant Server COL4A5_000087 5/10563 0/6728 5/3835
1 c.1289C>A r.(?) p.(Ala430Asp) g.107834411C>A Copied from the Exome Variant Server COL4A5_000088 48/10563 47/6728 1/3835
1 c.1331T>G r.(?) p.(Ile444Ser) g.107834453T>G Copied from the Exome Variant Server COL4A5_000089 1284/10562 11/6727 1273/3835
1 c.1339+8A>G r.(=) p.(=) g.107834469A>G Copied from the Exome Variant Server COL4A5_000090 1/10561 0/6726 1/3835
1 c.1453A>G r.(?) p.(Ile485Val) g.107838768A>G Copied from the Exome Variant Server COL4A5_000091 1/10563 0/6728 1/3835
1 c.1470A>C r.(=) p.(=) g.107838785A>C Copied from the Exome Variant Server COL4A5_000092 1/10563 1/6728 0/3835
1 c.1517-44C>T r.(=) p.(=) g.107840184C>T Copied from the Exome Variant Server COL4A5_000093 403/10496 2/6679 401/3817
1 c.1517-38_1517-37del r.(=) p.(=) g.107840190_107840191del Copied from the Exome Variant Server COL4A5_000094 345/10122 256/6421 89/3701
1 c.1517-18_1517-17del r.(=) p.(=) g.107840210_107840211del Copied from the Exome Variant Server COL4A5_000095 337/10176 221/6461 116/3715
1 c.1584A>G r.(=) p.(=) g.107840295A>G Copied from the Exome Variant Server COL4A5_000096 1/10562 1/6728 0/3834
1 c.1588-13T>G r.(=) p.(=) g.107840594T>G Copied from the Exome Variant Server COL4A5_000097 9/10556 8/6721 1/3835
1 c.1684G>A r.(?) p.(Glu562Lys) g.107840703G>A Copied from the Exome Variant Server COL4A5_000098 2/10563 0/6728 2/3835
1 c.1698T>C r.(=) p.(=) g.107840717T>C Copied from the Exome Variant Server COL4A5_000099 1/10563 0/6728 1/3835
1 c.1768A>G r.(?) p.(Lys590Glu) g.107840787A>G Copied from the Exome Variant Server COL4A5_000100 2/10563 1/6728 1/3835
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