Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108622683T>A | CA413852517 | COL4A5 | c.2775T>A (p.Asp925Glu) n.2231T>A c.8T>A c.2451T>A (p.Asp817Glu) c.348T>A (p.Asp116Glu) c.2790T>A (p.Asp930Glu) c.1110T>A (p.Asp370Glu) | |
X | g.108622683T>C | CA517924712 | COL4A5 | c.2775T>C (p.Asp925=) n.2231T>C c.8T>C c.2451T>C (p.Asp817=) c.348T>C (p.Asp116=) c.2790T>C (p.Asp930=) c.1110T>C (p.Asp370=) | gnomAD v4 |
X | g.108622683T>G | CA413852520 | COL4A5 | c.2775T>G (p.Asp925Glu) n.2231T>G c.8T>G c.2451T>G (p.Asp817Glu) c.348T>G (p.Asp116Glu) c.2790T>G (p.Asp930Glu) c.1110T>G (p.Asp370Glu) | |
X | g.108622685_108622689del | CA2739290540 | COL4A5 | c.2777_2781del (p.Gly926AlafsTer15) n.2233_2237del c.10_14del c.2453_2457del (p.Gly818AlafsTer15) c.350_354del (p.Gly117AlafsTer15) c.2792_2796del (p.Gly931AlafsTer15) c.1112_1116del (p.Gly371AlafsTer15) | |
X | g.108622684G>A | CA413852525 | COL4A5 | c.2776G>A (p.Gly926Ser) n.2232G>A c.9G>A c.2452G>A (p.Gly818Ser) c.349G>A (p.Gly117Ser) c.2791G>A (p.Gly931Ser) c.1111G>A (p.Gly371Ser) | |
X | g.108622684G>C | CA413852528 | COL4A5 | c.2776G>C (p.Gly926Arg) n.2232G>C c.9G>C c.2452G>C (p.Gly818Arg) c.349G>C (p.Gly117Arg) c.2791G>C (p.Gly931Arg) c.1111G>C (p.Gly371Arg) | |
X | g.108622684G>T | CA413852531 | COL4A5 | c.2776G>T (p.Gly926Cys) n.2232G>T c.9G>T c.2452G>T (p.Gly818Cys) c.349G>T (p.Gly117Cys) c.2791G>T (p.Gly931Cys) c.1111G>T (p.Gly371Cys) | |
X | g.108622685G>A | CA413852535 | COL4A5 | c.2777G>A (p.Gly926Asp) n.2233G>A c.10G>A c.2453G>A (p.Gly818Asp) c.350G>A (p.Gly117Asp) c.2792G>A (p.Gly931Asp) c.1112G>A (p.Gly371Asp) | |
X | g.108622685G>C | CA413852538 | COL4A5 | c.2777G>C (p.Gly926Ala) n.2233G>C c.10G>C c.2453G>C (p.Gly818Ala) c.350G>C (p.Gly117Ala) c.2792G>C (p.Gly931Ala) c.1112G>C (p.Gly371Ala) | |
X | g.108622685G>T | CA413852540 | COL4A5 | c.2777G>T (p.Gly926Val) n.2233G>T c.10G>T c.2453G>T (p.Gly818Val) c.350G>T (p.Gly117Val) c.2792G>T (p.Gly931Val) c.1112G>T (p.Gly371Val) | ClinVar dbSNP |
X | g.108622686C>A | CA517924717 | COL4A5 | c.2778C>A (p.Gly926=) n.2234C>A c.11C>A c.2454C>A (p.Gly818=) c.351C>A (p.Gly117=) c.2793C>A (p.Gly931=) c.1113C>A (p.Gly371=) | |
X | g.108622686C= | CA2450696851 | COL4A5 | c.2778C= (p.Gly926=) n.2234C= c.11C= c.2454C= (p.Gly818=) c.351C= (p.Gly117=) c.2793C= (p.Gly931=) c.1113C= (p.Gly371=) | |
X | g.108622686C>G | CA517924714 | COL4A5 | c.2778C>G (p.Gly926=) n.2234C>G c.11C>G c.2454C>G (p.Gly818=) c.351C>G (p.Gly117=) c.2793C>G (p.Gly931=) c.1113C>G (p.Gly371=) | |
X | g.108622686C>T | CA10488987 | COL4A5 | c.2778C>T (p.Gly926=) n.2234C>T c.11C>T c.2454C>T (p.Gly818=) c.351C>T (p.Gly117=) c.2793C>T (p.Gly931=) c.1113C>T (p.Gly371=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108622687T>A | CA413852543 | COL4A5 | c.2779T>A (p.Leu927Met) n.2235T>A c.12T>A c.2455T>A (p.Leu819Met) c.352T>A (p.Leu118Met) c.2794T>A (p.Leu932Met) c.1114T>A (p.Leu372Met) | |
X | g.108622687T>C | CA517924718 | COL4A5 | c.2779T>C (p.Leu927=) n.2235T>C c.12T>C c.2455T>C (p.Leu819=) c.352T>C (p.Leu118=) c.2794T>C (p.Leu932=) c.1114T>C (p.Leu372=) | |
X | g.108622687T>G | CA413852544 | COL4A5 | c.2779T>G (p.Leu927Val) n.2235T>G c.12T>G c.2455T>G (p.Leu819Val) c.352T>G (p.Leu118Val) c.2794T>G (p.Leu932Val) c.1114T>G (p.Leu372Val) | |
X | g.108622688del | CA2825002921 | COL4A5 | c.2780del (p.Leu927CysfsTer?) n.2236del c.13del c.2456del (p.Leu819CysfsTer?) c.353del (p.Leu118CysfsTer?) c.2795del (p.Leu932CysfsTer?) c.1115del (p.Leu372CysfsTer?) | ClinVar |
X | g.108622688T>A | CA413852546 | COL4A5 | c.2780T>A (p.Leu927Ter) n.2236T>A c.13T>A c.2456T>A (p.Leu819Ter) c.353T>A (p.Leu118Ter) c.2795T>A (p.Leu932Ter) c.1115T>A (p.Leu372Ter) | |
X | g.108622688T>C | CA413852548 | COL4A5 | c.2780T>C (p.Leu927Ser) n.2236T>C c.13T>C c.2456T>C (p.Leu819Ser) c.353T>C (p.Leu118Ser) c.2795T>C (p.Leu932Ser) c.1115T>C (p.Leu372Ser) | |
X | g.108622688T>G | CA413852550 | COL4A5 | c.2780T>G (p.Leu927Trp) n.2236T>G c.13T>G c.2456T>G (p.Leu819Trp) c.353T>G (p.Leu118Trp) c.2795T>G (p.Leu932Trp) c.1115T>G (p.Leu372Trp) | |
X | g.108622689G>A | CA517924720 | COL4A5 | c.2781G>A (p.Leu927=) n.2237G>A c.14G>A c.2457G>A (p.Leu819=) c.354G>A (p.Leu118=) c.2796G>A (p.Leu932=) c.1116G>A (p.Leu372=) | gnomAD v4 |
X | g.108622689G>C | CA413852552 | COL4A5 | c.2781G>C (p.Leu927Phe) n.2237G>C c.14G>C c.2457G>C (p.Leu819Phe) c.354G>C (p.Leu118Phe) c.2796G>C (p.Leu932Phe) c.1116G>C (p.Leu372Phe) | |
X | g.108622689G= | CA2450696852 | COL4A5 | c.2781G= (p.Leu927=) n.2237G= c.14G= c.2457G= (p.Leu819=) c.354G= (p.Leu118=) c.2796G= (p.Leu932=) c.1116G= (p.Leu372=) | |
X | g.108622689G>T | CA413852554 | COL4A5 | c.2781G>T (p.Leu927Phe) n.2237G>T c.14G>T c.2457G>T (p.Leu819Phe) c.354G>T (p.Leu118Phe) c.2796G>T (p.Leu932Phe) c.1116G>T (p.Leu372Phe) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108622690C>A | CA413852557 | COL4A5 | c.2782C>A (p.Gln928Lys) n.2238C>A c.15C>A c.2458C>A (p.Gln820Lys) c.355C>A (p.Gln119Lys) c.2797C>A (p.Gln933Lys) c.1117C>A (p.Gln373Lys) | |
X | g.108622690C= | CA2450696853 | COL4A5 | c.2782C= (p.Gln928=) n.2238C= c.15C= c.2458C= (p.Gln820=) c.355C= (p.Gln119=) c.2797C= (p.Gln933=) c.1117C= (p.Gln373=) | |
X | g.108622690C>G | CA413852560 | COL4A5 | c.2782C>G (p.Gln928Glu) n.2238C>G c.15C>G c.2458C>G (p.Gln820Glu) c.355C>G (p.Gln119Glu) c.2797C>G (p.Gln933Glu) c.1117C>G (p.Gln373Glu) | |
X | g.108622690C>T | CA258758 | COL4A5 | c.2782C>T (p.Gln928Ter) n.2238C>T c.15C>T c.2458C>T (p.Gln820Ter) c.355C>T (p.Gln119Ter) c.2797C>T (p.Gln933Ter) c.1117C>T (p.Gln373Ter) | dbSNP gnomAD v4 |
X | g.108622691A>C | CA413852563 | COL4A5 | c.2783A>C (p.Gln928Pro) n.2239A>C c.16A>C c.2459A>C (p.Gln820Pro) c.356A>C (p.Gln119Pro) c.2798A>C (p.Gln933Pro) c.1118A>C (p.Gln373Pro) | gnomAD v4 |
X | g.108622691A>G | CA413852567 | COL4A5 | c.2783A>G (p.Gln928Arg) n.2239A>G c.16A>G c.2459A>G (p.Gln820Arg) c.356A>G (p.Gln119Arg) c.2798A>G (p.Gln933Arg) c.1118A>G (p.Gln373Arg) | |
X | g.108622691A>T | CA413852564 | COL4A5 | c.2783A>T (p.Gln928Leu) n.2239A>T c.16A>T c.2459A>T (p.Gln820Leu) c.356A>T (p.Gln119Leu) c.2798A>T (p.Gln933Leu) c.1118A>T (p.Gln373Leu) | |
X | g.108622692G>A | CA517924722 | COL4A5 | c.2784G>A (p.Gln928=) n.2240G>A c.17G>A c.2460G>A (p.Gln820=) c.357G>A (p.Gln119=) c.2799G>A (p.Gln933=) c.1119G>A (p.Gln373=) | |
X | g.108622692G>C | CA413852569 | COL4A5 | c.2784G>C (p.Gln928His) n.2240G>C c.17G>C c.2460G>C (p.Gln820His) c.357G>C (p.Gln119His) c.2799G>C (p.Gln933His) c.1119G>C (p.Gln373His) | |
X | g.108622692G>T | CA413852570 | COL4A5 | c.2784G>T (p.Gln928His) n.2240G>T c.17G>T c.2460G>T (p.Gln820His) c.357G>T (p.Gln119His) c.2799G>T (p.Gln933His) c.1119G>T (p.Gln373His) | |
X | g.108622694del | CA2499226320 | COL4A5 | c.2786del (p.Gly929ValfsTer?) n.2242del c.19del c.2462del (p.Gly821ValfsTer?) c.359del (p.Gly120ValfsTer?) c.2801del (p.Gly934ValfsTer?) c.1121del (p.Gly374ValfsTer?) | ClinVar dbSNP |
X | g.108622693G>A | CA413852572 | COL4A5 | c.2785G>A (p.Gly929Ser) n.2241G>A c.18G>A c.2461G>A (p.Gly821Ser) c.358G>A (p.Gly120Ser) c.2800G>A (p.Gly934Ser) c.1120G>A (p.Gly374Ser) | ClinVar dbSNP gnomAD v4 |
X | g.108622693G>C | CA413852573 | COL4A5 | c.2785G>C (p.Gly929Arg) n.2241G>C c.18G>C c.2461G>C (p.Gly821Arg) c.358G>C (p.Gly120Arg) c.2800G>C (p.Gly934Arg) c.1120G>C (p.Gly374Arg) | |
X | g.108622693G= | CA2450696854 | COL4A5 | c.2785G= (p.Gly929=) n.2241G= c.18G= c.2461G= (p.Gly821=) c.358G= (p.Gly120=) c.2800G= (p.Gly934=) c.1120G= (p.Gly374=) | |
X | g.108622693G>T | CA413852575 | COL4A5 | c.2785G>T (p.Gly929Cys) n.2241G>T c.18G>T c.2461G>T (p.Gly821Cys) c.358G>T (p.Gly120Cys) c.2800G>T (p.Gly934Cys) c.1120G>T (p.Gly374Cys) | |
X | g.108622694G>A | CA413852577 | COL4A5 | c.2786G>A (p.Gly929Asp) n.2242G>A c.19G>A c.2462G>A (p.Gly821Asp) c.359G>A (p.Gly120Asp) c.2801G>A (p.Gly934Asp) c.1121G>A (p.Gly374Asp) | ClinVar dbSNP |
X | g.108622694G>C | CA413852578 | COL4A5 | c.2786G>C (p.Gly929Ala) n.2242G>C c.19G>C c.2462G>C (p.Gly821Ala) c.359G>C (p.Gly120Ala) c.2801G>C (p.Gly934Ala) c.1121G>C (p.Gly374Ala) | |
X | g.108622694G>T | CA413852580 | COL4A5 | c.2786G>T (p.Gly929Val) n.2242G>T c.19G>T c.2462G>T (p.Gly821Val) c.359G>T (p.Gly120Val) c.2801G>T (p.Gly934Val) c.1121G>T (p.Gly374Val) | |
X | g.108622695T>A | CA517924725 | COL4A5 | c.2787T>A (p.Gly929=) n.2243T>A c.20T>A c.2463T>A (p.Gly821=) c.360T>A (p.Gly120=) c.2802T>A (p.Gly934=) c.1122T>A (p.Gly374=) | |
X | g.108622695T>C | CA517924726 | COL4A5 | c.2787T>C (p.Gly929=) n.2243T>C c.20T>C c.2463T>C (p.Gly821=) c.360T>C (p.Gly120=) c.2802T>C (p.Gly934=) c.1122T>C (p.Gly374=) | |
X | g.108622695T>G | CA517924727 | COL4A5 | c.2787T>G (p.Gly929=) n.2243T>G c.20T>G c.2463T>G (p.Gly821=) c.360T>G (p.Gly120=) c.2802T>G (p.Gly934=) c.1122T>G (p.Gly374=) | |
X | g.108622696C>A | CA413852583 | COL4A5 | c.2788C>A (p.Gln930Lys) n.2244C>A c.21C>A c.2464C>A (p.Gln822Lys) c.361C>A (p.Gln121Lys) c.2803C>A (p.Gln935Lys) c.1123C>A (p.Gln375Lys) | |
X | g.108622696C= | CA2450696855 | COL4A5 | c.2788C= (p.Gln930=) n.2244C= c.21C= c.2464C= (p.Gln822=) c.361C= (p.Gln121=) c.2803C= (p.Gln935=) c.1123C= (p.Gln375=) | |
X | g.108622696C>G | CA413852585 | COL4A5 | c.2788C>G (p.Gln930Glu) n.2244C>G c.21C>G c.2464C>G (p.Gln822Glu) c.361C>G (p.Gln121Glu) c.2803C>G (p.Gln935Glu) c.1123C>G (p.Gln375Glu) | |
X | g.108622696C>T | CA258762 | COL4A5 | c.2788C>T (p.Gln930Ter) n.2244C>T c.21C>T c.2464C>T (p.Gln822Ter) c.361C>T (p.Gln121Ter) c.2803C>T (p.Gln935Ter) c.1123C>T (p.Gln375Ter) | dbSNP |
X | g.108622697A>C | CA413852591 | COL4A5 | c.2789A>C (p.Gln930Pro) n.2245A>C c.22A>C c.2465A>C (p.Gln822Pro) c.362A>C (p.Gln121Pro) c.2804A>C (p.Gln935Pro) c.1124A>C (p.Gln375Pro) | |
X | g.108622697A>G | CA413852589 | COL4A5 | c.2789A>G (p.Gln930Arg) n.2245A>G c.22A>G c.2465A>G (p.Gln822Arg) c.362A>G (p.Gln121Arg) c.2804A>G (p.Gln935Arg) c.1124A>G (p.Gln375Arg) | |
X | g.108622697A>T | CA413852588 | COL4A5 | c.2789A>T (p.Gln930Leu) n.2245A>T c.22A>T c.2465A>T (p.Gln822Leu) c.362A>T (p.Gln121Leu) c.2804A>T (p.Gln935Leu) c.1124A>T (p.Gln375Leu) | COSMIC COSMIC |
X | g.108622698G>A | CA517924728 | COL4A5 | c.2790G>A (p.Gln930=) n.2246G>A c.23G>A c.2466G>A (p.Gln822=) c.363G>A (p.Gln121=) c.2805G>A (p.Gln935=) c.1125G>A (p.Gln375=) | ClinVar gnomAD v4 |
X | g.108622698G>C | CA413852593 | COL4A5 | c.2790G>C (p.Gln930His) n.2246G>C c.23G>C c.2466G>C (p.Gln822His) c.363G>C (p.Gln121His) c.2805G>C (p.Gln935His) c.1125G>C (p.Gln375His) | |
X | g.108622698G>T | CA413852595 | COL4A5 | c.2790G>T (p.Gln930His) n.2246G>T c.23G>T c.2466G>T (p.Gln822His) c.363G>T (p.Gln121His) c.2805G>T (p.Gln935His) c.1125G>T (p.Gln375His) | |
X | g.108622699C>A | CA413852597 | COL4A5 | c.2791C>A (p.Pro931Thr) n.2247C>A c.24C>A c.2467C>A (p.Pro823Thr) c.364C>A (p.Pro122Thr) c.2806C>A (p.Pro936Thr) c.1126C>A (p.Pro376Thr) | |
X | g.108622699C>G | CA413852599 | COL4A5 | c.2791C>G (p.Pro931Ala) n.2247C>G c.24C>G c.2467C>G (p.Pro823Ala) c.364C>G (p.Pro122Ala) c.2806C>G (p.Pro936Ala) c.1126C>G (p.Pro376Ala) | |
X | g.108622699C>T | CA413852601 | COL4A5 | c.2791C>T (p.Pro931Ser) n.2247C>T c.24C>T c.2467C>T (p.Pro823Ser) c.364C>T (p.Pro122Ser) c.2806C>T (p.Pro936Ser) c.1126C>T (p.Pro376Ser) | |
X | g.108622700C>A | CA413852602 | COL4A5 | c.2792C>A (p.Pro931Gln) n.2248C>A c.25C>A c.2468C>A (p.Pro823Gln) c.365C>A (p.Pro122Gln) c.2807C>A (p.Pro936Gln) c.1127C>A (p.Pro376Gln) | |
X | g.108622700C>G | CA413852604 | COL4A5 | c.2792C>G (p.Pro931Arg) n.2248C>G c.25C>G c.2468C>G (p.Pro823Arg) c.365C>G (p.Pro122Arg) c.2807C>G (p.Pro936Arg) c.1127C>G (p.Pro376Arg) | |
X | g.108622700C>T | CA413852606 | COL4A5 | c.2792C>T (p.Pro931Leu) n.2248C>T c.25C>T c.2468C>T (p.Pro823Leu) c.365C>T (p.Pro122Leu) c.2807C>T (p.Pro936Leu) c.1127C>T (p.Pro376Leu) | gnomAD v4 |
X | g.108622701A= | CA2450696856 | COL4A5 | c.2793A= (p.Pro931=) n.2249A= c.26A= c.2469A= (p.Pro823=) c.366A= (p.Pro122=) c.2808A= (p.Pro936=) c.1128A= (p.Pro376=) | |
X | g.108622701A>C | CA517924729 | COL4A5 | c.2793A>C (p.Pro931=) n.2249A>C c.26A>C c.2469A>C (p.Pro823=) c.366A>C (p.Pro122=) c.2808A>C (p.Pro936=) c.1128A>C (p.Pro376=) | |
X | g.108622701A>G | CA517924730 | COL4A5 | c.2793A>G (p.Pro931=) n.2249A>G c.26A>G c.2469A>G (p.Pro823=) c.366A>G (p.Pro122=) c.2808A>G (p.Pro936=) c.1128A>G (p.Pro376=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108622701A>T | CA517924731 | COL4A5 | c.2793A>T (p.Pro931=) n.2249A>T c.26A>T c.2469A>T (p.Pro823=) c.366A>T (p.Pro122=) c.2808A>T (p.Pro936=) c.1128A>T (p.Pro376=) | |
X | g.108622702G>A | CA413852608 | COL4A5 | c.2794G>A (p.Gly932Arg) n.2250G>A c.27G>A c.2470G>A (p.Gly824Arg) c.367G>A (p.Gly123Arg) c.2809G>A (p.Gly937Arg) c.1129G>A (p.Gly377Arg) | ClinVar dbSNP gnomAD v4 |
X | g.108622702G>C | CA413852610 | COL4A5 | c.2794G>C (p.Gly932Arg) n.2250G>C c.27G>C c.2470G>C (p.Gly824Arg) c.367G>C (p.Gly123Arg) c.2809G>C (p.Gly937Arg) c.1129G>C (p.Gly377Arg) | ClinVar |
X | g.108622702G>T | CA413852612 | COL4A5 | c.2794G>T (p.Gly932Ter) n.2250G>T c.27G>T c.2470G>T (p.Gly824Ter) c.367G>T (p.Gly123Ter) c.2809G>T (p.Gly937Ter) c.1129G>T (p.Gly377Ter) | |
X | g.108622703G>A | CA413852617 | COL4A5 | c.2795G>A (p.Gly932Glu) n.2251G>A c.28G>A c.2471G>A (p.Gly824Glu) c.368G>A (p.Gly123Glu) c.2810G>A (p.Gly937Glu) c.1130G>A (p.Gly377Glu) | |
X | g.108622703G>C | CA413852615 | COL4A5 | c.2795G>C (p.Gly932Ala) n.2251G>C c.28G>C c.2471G>C (p.Gly824Ala) c.368G>C (p.Gly123Ala) c.2810G>C (p.Gly937Ala) c.1130G>C (p.Gly377Ala) | |
X | g.108622703G>T | CA413852614 | COL4A5 | c.2795G>T (p.Gly932Val) n.2251G>T c.28G>T c.2471G>T (p.Gly824Val) c.368G>T (p.Gly123Val) c.2810G>T (p.Gly937Val) c.1130G>T (p.Gly377Val) | |
X | g.108622704del | CA2552964910 | COL4A5 | c.2796del (p.Leu933PhefsTer?) n.2252del c.29del c.2472del (p.Leu825PhefsTer?) c.369del (p.Leu124PhefsTer?) c.2811del (p.Leu938PhefsTer?) c.1131del (p.Leu378PhefsTer?) | |
X | g.108622704A>C | CA517924732 | COL4A5 | c.2796A>C (p.Gly932=) n.2252A>C c.29A>C c.2472A>C (p.Gly824=) c.369A>C (p.Gly123=) c.2811A>C (p.Gly937=) c.1131A>C (p.Gly377=) | |
X | g.108622704A>G | CA517924733 | COL4A5 | c.2796A>G (p.Gly932=) n.2252A>G c.29A>G c.2472A>G (p.Gly824=) c.369A>G (p.Gly123=) c.2811A>G (p.Gly937=) c.1131A>G (p.Gly377=) | |
X | g.108622704A>T | CA517924734 | COL4A5 | c.2796A>T (p.Gly932=) n.2252A>T c.29A>T c.2472A>T (p.Gly824=) c.369A>T (p.Gly123=) c.2811A>T (p.Gly937=) c.1131A>T (p.Gly377=) | |
X | g.108622705C>A | CA413852619 | COL4A5 | c.2797C>A (p.Leu933Ile) n.2253C>A c.30C>A c.2473C>A (p.Leu825Ile) c.370C>A (p.Leu124Ile) c.2812C>A (p.Leu938Ile) c.1132C>A (p.Leu378Ile) | |
X | g.108622705C= | CA2450696857 | COL4A5 | c.2797C= (p.Leu933=) n.2253C= c.30C= c.2473C= (p.Leu825=) c.370C= (p.Leu124=) c.2812C= (p.Leu938=) c.1132C= (p.Leu378=) | |
X | g.108622705C>G | CA413852620 | COL4A5 | c.2797C>G (p.Leu933Val) n.2253C>G c.30C>G c.2473C>G (p.Leu825Val) c.370C>G (p.Leu124Val) c.2812C>G (p.Leu938Val) c.1132C>G (p.Leu378Val) | |
X | g.108622705C>T | CA10488988 | COL4A5 | c.2797C>T (p.Leu933Phe) n.2253C>T c.30C>T c.2473C>T (p.Leu825Phe) c.370C>T (p.Leu124Phe) c.2812C>T (p.Leu938Phe) c.1132C>T (p.Leu378Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108622706T>A | CA413852624 | COL4A5 | c.2798T>A (p.Leu933His) n.2254T>A c.31T>A c.2474T>A (p.Leu825His) c.371T>A (p.Leu124His) c.2813T>A (p.Leu938His) c.1133T>A (p.Leu378His) | |
X | g.108622706T>C | CA413852625 | COL4A5 | c.2798T>C (p.Leu933Pro) n.2254T>C c.31T>C c.2474T>C (p.Leu825Pro) c.371T>C (p.Leu124Pro) c.2813T>C (p.Leu938Pro) c.1133T>C (p.Leu378Pro) | |
X | g.108622706T>G | CA413852627 | COL4A5 | c.2798T>G (p.Leu933Arg) n.2254T>G c.31T>G c.2474T>G (p.Leu825Arg) c.371T>G (p.Leu124Arg) c.2813T>G (p.Leu938Arg) c.1133T>G (p.Leu378Arg) | |
X | g.108622707T>A | CA517924737 | COL4A5 | c.2799T>A (p.Leu933=) n.2255T>A c.32T>A c.2475T>A (p.Leu825=) c.372T>A (p.Leu124=) c.2814T>A (p.Leu938=) c.1134T>A (p.Leu378=) | |
X | g.108622707T>C | CA517924735 | COL4A5 | c.2799T>C (p.Leu933=) n.2255T>C c.32T>C c.2475T>C (p.Leu825=) c.372T>C (p.Leu124=) c.2814T>C (p.Leu938=) c.1134T>C (p.Leu378=) | ClinVar |
X | g.108622707T>G | CA517924736 | COL4A5 | c.2799T>G (p.Leu933=) n.2255T>G c.32T>G c.2475T>G (p.Leu825=) c.372T>G (p.Leu124=) c.2814T>G (p.Leu938=) c.1134T>G (p.Leu378=) | |
X | g.108622707_108622759del | CA2566557330 | COL4A5 | c.2799_2851del (p.Pro934SerfsTer?) n.2255_2307del c.32_84del c.2475_2527del (p.Pro826SerfsTer?) c.372_424del (p.Pro125SerfsTer?) c.2814_2866del (p.Pro939SerfsTer?) c.1134_1186del (p.Pro379SerfsTer?) | |
X | g.108622708C>A | CA413852629 | COL4A5 | c.2800C>A (p.Pro934Thr) n.2256C>A c.33C>A c.2476C>A (p.Pro826Thr) c.373C>A (p.Pro125Thr) c.2815C>A (p.Pro939Thr) c.1135C>A (p.Pro379Thr) | |
X | g.108622708C>G | CA413852631 | COL4A5 | c.2800C>G (p.Pro934Ala) n.2256C>G c.33C>G c.2476C>G (p.Pro826Ala) c.373C>G (p.Pro125Ala) c.2815C>G (p.Pro939Ala) c.1135C>G (p.Pro379Ala) | |
X | g.108622708C>T | CA413852632 | COL4A5 | c.2800C>T (p.Pro934Ser) n.2256C>T c.33C>T c.2476C>T (p.Pro826Ser) c.373C>T (p.Pro125Ser) c.2815C>T (p.Pro939Ser) c.1135C>T (p.Pro379Ser) | COSMIC |
X | g.108622709del | CA2739290541 | COL4A5 | c.2801del (p.Pro934LeufsTer?) n.2257del c.34del c.2477del (p.Pro826LeufsTer?) c.374del (p.Pro125LeufsTer?) c.2816del (p.Pro939LeufsTer?) c.1136del (p.Pro379LeufsTer?) | |
X | g.108622711_108622716del | CA2695235223 | COL4A5 | c.2803_2808del (p.Gly935_Pro936del) n.2259_2264del c.36_41del c.2479_2484del (p.Gly827_Pro828del) c.376_381del (p.Gly126_Pro127del) c.2818_2823del (p.Gly940_Pro941del) c.1138_1143del (p.Gly380_Pro381del) | |
X | g.108622709C>A | CA413852634 | COL4A5 | c.2801C>A (p.Pro934His) n.2257C>A c.34C>A c.2477C>A (p.Pro826His) c.374C>A (p.Pro125His) c.2816C>A (p.Pro939His) c.1136C>A (p.Pro379His) | |
X | g.108622709C= | CA2450696858 | COL4A5 | c.2801C= (p.Pro934=) n.2257C= c.34C= c.2477C= (p.Pro826=) c.374C= (p.Pro125=) c.2816C= (p.Pro939=) c.1136C= (p.Pro379=) | |
X | g.108622709C>G | CA413852636 | COL4A5 | c.2801C>G (p.Pro934Arg) n.2257C>G c.34C>G c.2477C>G (p.Pro826Arg) c.374C>G (p.Pro125Arg) c.2816C>G (p.Pro939Arg) c.1136C>G (p.Pro379Arg) | |
X | g.108622709C>T | CA413852638 | COL4A5 | c.2801C>T (p.Pro934Leu) n.2257C>T c.34C>T c.2477C>T (p.Pro826Leu) c.374C>T (p.Pro125Leu) c.2816C>T (p.Pro939Leu) c.1136C>T (p.Pro379Leu) | |
X | g.108622710T>A | CA517924738 | COL4A5 | c.2802T>A (p.Pro934=) n.2258T>A c.35T>A c.2478T>A (p.Pro826=) c.375T>A (p.Pro125=) c.2817T>A (p.Pro939=) c.1137T>A (p.Pro379=) | |
X | g.108622710T>C | CA517924739 | COL4A5 | c.2802T>C (p.Pro934=) n.2258T>C c.35T>C c.2478T>C (p.Pro826=) c.375T>C (p.Pro125=) c.2817T>C (p.Pro939=) c.1137T>C (p.Pro379=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108622710T>G | CA517924740 | COL4A5 | c.2802T>G (p.Pro934=) n.2258T>G c.35T>G c.2478T>G (p.Pro826=) c.375T>G (p.Pro125=) c.2817T>G (p.Pro939=) c.1137T>G (p.Pro379=) | |
X | g.108622710T= | CA2450696859 | COL4A5 | c.2802T= (p.Pro934=) n.2258T= c.35T= c.2478T= (p.Pro826=) c.375T= (p.Pro125=) c.2817T= (p.Pro939=) c.1137T= (p.Pro379=) | |
X | g.108622710dup | CA258765 | COL4A5 | c.2802dup (p.Gly935TrpfsTer8) n.2258dup c.35dup c.2478dup (p.Gly827TrpfsTer8) c.375dup (p.Gly126TrpfsTer8) c.2817dup (p.Gly940TrpfsTer8) c.1137dup (p.Gly380TrpfsTer8) | ClinVar dbSNP |
X | g.108622711G>A | CA413852644 | COL4A5 | c.2803G>A (p.Gly935Ser) n.2259G>A c.36G>A c.2479G>A (p.Gly827Ser) c.376G>A (p.Gly126Ser) c.2818G>A (p.Gly940Ser) c.1138G>A (p.Gly380Ser) | |
X | g.108622711G>C | CA413852640 | COL4A5 | c.2803G>C (p.Gly935Arg) n.2259G>C c.36G>C c.2479G>C (p.Gly827Arg) c.376G>C (p.Gly126Arg) c.2818G>C (p.Gly940Arg) c.1138G>C (p.Gly380Arg) | |
X | g.108622711G>T | CA413852642 | COL4A5 | c.2803G>T (p.Gly935Cys) n.2259G>T c.36G>T c.2479G>T (p.Gly827Cys) c.376G>T (p.Gly126Cys) c.2818G>T (p.Gly940Cys) c.1138G>T (p.Gly380Cys) | |
X | g.108622712G>A | CA258766 | COL4A5 | c.2804G>A (p.Gly935Asp) n.2260G>A c.37G>A c.2480G>A (p.Gly827Asp) c.377G>A (p.Gly126Asp) c.2819G>A (p.Gly940Asp) c.1139G>A (p.Gly380Asp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.108622712G>C | CA413852646 | COL4A5 | c.2804G>C (p.Gly935Ala) n.2260G>C c.37G>C c.2480G>C (p.Gly827Ala) c.377G>C (p.Gly126Ala) c.2819G>C (p.Gly940Ala) c.1139G>C (p.Gly380Ala) | |
X | g.108622712G= | CA2450696860 | COL4A5 | c.2804G= (p.Gly935=) n.2260G= c.37G= c.2480G= (p.Gly827=) c.377G= (p.Gly126=) c.2819G= (p.Gly940=) c.1139G= (p.Gly380=) | |
X | g.108622712G>T | CA413852648 | COL4A5 | c.2804G>T (p.Gly935Val) n.2260G>T c.37G>T c.2480G>T (p.Gly827Val) c.377G>T (p.Gly126Val) c.2819G>T (p.Gly940Val) c.1139G>T (p.Gly380Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108622713C>A | CA517924741 | COL4A5 | c.2805C>A (p.Gly935=) n.2261C>A c.38C>A c.2481C>A (p.Gly827=) c.378C>A (p.Gly126=) c.2820C>A (p.Gly940=) c.1140C>A (p.Gly380=) | gnomAD v4 |
X | g.108622713C>G | CA517924742 | COL4A5 | c.2805C>G (p.Gly935=) n.2261C>G c.38C>G c.2481C>G (p.Gly827=) c.378C>G (p.Gly126=) c.2820C>G (p.Gly940=) c.1140C>G (p.Gly380=) | |
X | g.108622713C>T | CA517924743 | COL4A5 | c.2805C>T (p.Gly935=) n.2261C>T c.38C>T c.2481C>T (p.Gly827=) c.378C>T (p.Gly126=) c.2820C>T (p.Gly940=) c.1140C>T (p.Gly380=) | |
X | g.108622714C>A | CA413852651 | COL4A5 | c.2806C>A (p.Pro936Thr) n.2262C>A c.39C>A c.2482C>A (p.Pro828Thr) c.379C>A (p.Pro127Thr) c.2821C>A (p.Pro941Thr) c.1141C>A (p.Pro381Thr) | |
X | g.108622714C>G | CA413852653 | COL4A5 | c.2806C>G (p.Pro936Ala) n.2262C>G c.39C>G c.2482C>G (p.Pro828Ala) c.379C>G (p.Pro127Ala) c.2821C>G (p.Pro941Ala) c.1141C>G (p.Pro381Ala) | |
X | g.108622714C>T | CA413852655 | COL4A5 | c.2806C>T (p.Pro936Ser) n.2262C>T c.39C>T c.2482C>T (p.Pro828Ser) c.379C>T (p.Pro127Ser) c.2821C>T (p.Pro941Ser) c.1141C>T (p.Pro381Ser) | |
X | g.108622715C>A | CA413852657 | COL4A5 | c.2807C>A (p.Pro936His) n.2263C>A c.40C>A c.2483C>A (p.Pro828His) c.380C>A (p.Pro127His) c.2822C>A (p.Pro941His) c.1142C>A (p.Pro381His) | |
X | g.108622715C= | CA2450696861 | COL4A5 | c.2807C= (p.Pro936=) n.2263C= c.40C= c.2483C= (p.Pro828=) c.380C= (p.Pro127=) c.2822C= (p.Pro941=) c.1142C= (p.Pro381=) | |
X | g.108622715C>G | CA413852659 | COL4A5 | c.2807C>G (p.Pro936Arg) n.2263C>G c.40C>G c.2483C>G (p.Pro828Arg) c.380C>G (p.Pro127Arg) c.2822C>G (p.Pro941Arg) c.1142C>G (p.Pro381Arg) | ClinVar |
X | g.108622715C>T | CA413852660 | COL4A5 | c.2807C>T (p.Pro936Leu) n.2263C>T c.40C>T c.2483C>T (p.Pro828Leu) c.380C>T (p.Pro127Leu) c.2822C>T (p.Pro941Leu) c.1142C>T (p.Pro381Leu) | dbSNP |
X | g.108622716T>A | CA517924744 | COL4A5 | c.2808T>A (p.Pro936=) n.2264T>A c.41T>A c.2484T>A (p.Pro828=) c.381T>A (p.Pro127=) c.2823T>A (p.Pro941=) c.1143T>A (p.Pro381=) | |
X | g.108622716T>C | CA517924745 | COL4A5 | c.2808T>C (p.Pro936=) n.2264T>C c.41T>C c.2484T>C (p.Pro828=) c.381T>C (p.Pro127=) c.2823T>C (p.Pro941=) c.1143T>C (p.Pro381=) | ClinVar gnomAD v4 |
X | g.108622716T>G | CA517924746 | COL4A5 | c.2808T>G (p.Pro936=) n.2264T>G c.41T>G c.2484T>G (p.Pro828=) c.381T>G (p.Pro127=) c.2823T>G (p.Pro941=) c.1143T>G (p.Pro381=) | |
X | g.108622717A>C | CA413852663 | COL4A5 | c.2809A>C (p.Thr937Pro) n.2265A>C c.42A>C c.2485A>C (p.Thr829Pro) c.382A>C (p.Thr128Pro) c.2824A>C (p.Thr942Pro) c.1144A>C (p.Thr382Pro) | |
X | g.108622717A>G | CA413852665 | COL4A5 | c.2809A>G (p.Thr937Ala) n.2265A>G c.42A>G c.2485A>G (p.Thr829Ala) c.382A>G (p.Thr128Ala) c.2824A>G (p.Thr942Ala) c.1144A>G (p.Thr382Ala) | |
X | g.108622717A>T | CA413852667 | COL4A5 | c.2809A>T (p.Thr937Ser) n.2265A>T c.42A>T c.2485A>T (p.Thr829Ser) c.382A>T (p.Thr128Ser) c.2824A>T (p.Thr942Ser) c.1144A>T (p.Thr382Ser) | |
X | g.108622718C>A | CA413852672 | COL4A5 | c.2810C>A (p.Thr937Lys) n.2266C>A c.43C>A c.2486C>A (p.Thr829Lys) c.383C>A (p.Thr128Lys) c.2825C>A (p.Thr942Lys) c.1145C>A (p.Thr382Lys) | |
X | g.108622718C>G | CA413852671 | COL4A5 | c.2810C>G (p.Thr937Arg) n.2266C>G c.43C>G c.2486C>G (p.Thr829Arg) c.383C>G (p.Thr128Arg) c.2825C>G (p.Thr942Arg) c.1145C>G (p.Thr382Arg) | |
X | g.108622718C>T | CA413852670 | COL4A5 | c.2810C>T (p.Thr937Ile) n.2266C>T c.43C>T c.2486C>T (p.Thr829Ile) c.383C>T (p.Thr128Ile) c.2825C>T (p.Thr942Ile) c.1145C>T (p.Thr382Ile) | |
X | g.108622719A= | CA2450696862 | COL4A5 | c.2811A= (p.Thr937=) n.2267A= c.44A= c.2487A= (p.Thr829=) c.384A= (p.Thr128=) c.2826A= (p.Thr942=) c.1146A= (p.Thr382=) | |
X | g.108622719A>C | CA517924747 | COL4A5 | c.2811A>C (p.Thr937=) n.2267A>C c.44A>C c.2487A>C (p.Thr829=) c.384A>C (p.Thr128=) c.2826A>C (p.Thr942=) c.1146A>C (p.Thr382=) | |
X | g.108622719A>G | CA517924748 | COL4A5 | c.2811A>G (p.Thr937=) n.2267A>G c.44A>G c.2487A>G (p.Thr829=) c.384A>G (p.Thr128=) c.2826A>G (p.Thr942=) c.1146A>G (p.Thr382=) | |
X | g.108622719A>T | CA517924749 | COL4A5 | c.2811A>T (p.Thr937=) n.2267A>T c.44A>T c.2487A>T (p.Thr829=) c.384A>T (p.Thr128=) c.2826A>T (p.Thr942=) c.1146A>T (p.Thr382=) | dbSNP |
X | g.108622720G>A | CA413852677 | COL4A5 | c.2812G>A (p.Gly938Arg) n.2268G>A c.45G>A c.2488G>A (p.Gly830Arg) c.385G>A (p.Gly129Arg) c.2827G>A (p.Gly943Arg) c.1147G>A (p.Gly383Arg) | |
X | g.108622720G>C | CA413852675 | COL4A5 | c.2812G>C (p.Gly938Arg) n.2268G>C c.45G>C c.2488G>C (p.Gly830Arg) c.385G>C (p.Gly129Arg) c.2827G>C (p.Gly943Arg) c.1147G>C (p.Gly383Arg) | |
X | g.108622720G>T | CA413852680 | COL4A5 | c.2812G>T (p.Gly938Ter) n.2268G>T c.45G>T c.2488G>T (p.Gly830Ter) c.385G>T (p.Gly129Ter) c.2827G>T (p.Gly943Ter) c.1147G>T (p.Gly383Ter) | |
X | g.108622721G>A | CA413852681 | COL4A5 | c.2813G>A (p.Gly938Glu) n.2269G>A c.46G>A c.2489G>A (p.Gly830Glu) c.386G>A (p.Gly129Glu) c.2828G>A (p.Gly943Glu) c.1148G>A (p.Gly383Glu) | gnomAD v4 COSMIC COSMIC |
X | g.108622721G>C | CA413852683 | COL4A5 | c.2813G>C (p.Gly938Ala) n.2269G>C c.46G>C c.2489G>C (p.Gly830Ala) c.386G>C (p.Gly129Ala) c.2828G>C (p.Gly943Ala) c.1148G>C (p.Gly383Ala) | |
X | g.108622721G>T | CA413852685 | COL4A5 | c.2813G>T (p.Gly938Val) n.2269G>T c.46G>T c.2489G>T (p.Gly830Val) c.386G>T (p.Gly129Val) c.2828G>T (p.Gly943Val) c.1148G>T (p.Gly383Val) | |
X | g.108622722A>C | CA517924750 | COL4A5 | c.2814A>C (p.Gly938=) n.2270A>C c.47A>C c.2490A>C (p.Gly830=) c.387A>C (p.Gly129=) c.2829A>C (p.Gly943=) c.1149A>C (p.Gly383=) | |
X | g.108622722A>G | CA517924751 | COL4A5 | c.2814A>G (p.Gly938=) n.2270A>G c.47A>G c.2490A>G (p.Gly830=) c.387A>G (p.Gly129=) c.2829A>G (p.Gly943=) c.1149A>G (p.Gly383=) | |
X | g.108622722A>T | CA517924752 | COL4A5 | c.2814A>T (p.Gly938=) n.2270A>T c.47A>T c.2490A>T (p.Gly830=) c.387A>T (p.Gly129=) c.2829A>T (p.Gly943=) c.1149A>T (p.Gly383=) | |
X | g.108622723G>A | CA413852687 | COL4A5 | c.2815G>A (p.Glu939Lys) n.2271G>A c.48G>A c.2491G>A (p.Glu831Lys) c.388G>A (p.Glu130Lys) c.2830G>A (p.Glu944Lys) c.1150G>A (p.Glu384Lys) | |
X | g.108622723G>C | CA413852688 | COL4A5 | c.2815G>C (p.Glu939Gln) n.2271G>C c.48G>C c.2491G>C (p.Glu831Gln) c.388G>C (p.Glu130Gln) c.2830G>C (p.Glu944Gln) c.1150G>C (p.Glu384Gln) | |
X | g.108622723G= | CA2450696863 | COL4A5 | c.2815G= (p.Glu939=) n.2271G= c.48G= c.2491G= (p.Glu831=) c.388G= (p.Glu130=) c.2830G= (p.Glu944=) c.1150G= (p.Glu384=) | |
X | g.108622723G>T | CA413852690 | COL4A5 | c.2815G>T (p.Glu939Ter) n.2271G>T c.48G>T c.2491G>T (p.Glu831Ter) c.388G>T (p.Glu130Ter) c.2830G>T (p.Glu944Ter) c.1150G>T (p.Glu384Ter) | |
X | g.108622724A>C | CA413852693 | COL4A5 | c.2816A>C (p.Glu939Ala) n.2272A>C c.49A>C c.2492A>C (p.Glu831Ala) c.389A>C (p.Glu130Ala) c.2831A>C (p.Glu944Ala) c.1151A>C (p.Glu384Ala) | |
X | g.108622724A>G | CA413852694 | COL4A5 | c.2816A>G (p.Glu939Gly) n.2272A>G c.49A>G c.2492A>G (p.Glu831Gly) c.389A>G (p.Glu130Gly) c.2831A>G (p.Glu944Gly) c.1151A>G (p.Glu384Gly) | |
X | g.108622724A>T | CA413852695 | COL4A5 | c.2816A>T (p.Glu939Val) n.2272A>T c.49A>T c.2492A>T (p.Glu831Val) c.389A>T (p.Glu130Val) c.2831A>T (p.Glu944Val) c.1151A>T (p.Glu384Val) | |
X | g.108622728del | CA2841796880 | COL4A5 | c.2820del (p.Gly941ValfsTer?) n.2276del c.53del c.2496del (p.Gly833ValfsTer?) c.393del (p.Gly132ValfsTer?) c.2835del (p.Gly946ValfsTer?) c.1155del (p.Gly386ValfsTer?) | |
X | g.108622725A>C | CA413852698 | COL4A5 | c.2817A>C (p.Glu939Asp) n.2273A>C c.50A>C c.2493A>C (p.Glu831Asp) c.390A>C (p.Glu130Asp) c.2832A>C (p.Glu944Asp) c.1152A>C (p.Glu384Asp) | |
X | g.108622725A>G | CA517924753 | COL4A5 | c.2817A>G (p.Glu939=) n.2273A>G c.50A>G c.2493A>G (p.Glu831=) c.390A>G (p.Glu130=) c.2832A>G (p.Glu944=) c.1152A>G (p.Glu384=) | |
X | g.108622725A>T | CA413852699 | COL4A5 | c.2817A>T (p.Glu939Asp) n.2273A>T c.50A>T c.2493A>T (p.Glu831Asp) c.390A>T (p.Glu130Asp) c.2832A>T (p.Glu944Asp) c.1152A>T (p.Glu384Asp) | |
X | g.108622726A>C | CA413852705 | COL4A5 | c.2818A>C (p.Lys940Gln) n.2274A>C c.51A>C c.2494A>C (p.Lys832Gln) c.391A>C (p.Lys131Gln) c.2833A>C (p.Lys945Gln) c.1153A>C (p.Lys385Gln) | |
X | g.108622726A>G | CA413852703 | COL4A5 | c.2818A>G (p.Lys940Glu) n.2274A>G c.51A>G c.2494A>G (p.Lys832Glu) c.391A>G (p.Lys131Glu) c.2833A>G (p.Lys945Glu) c.1153A>G (p.Lys385Glu) | |
X | g.108622726A>T | CA413852701 | COL4A5 | c.2818A>T (p.Lys940Ter) n.2274A>T c.51A>T c.2494A>T (p.Lys832Ter) c.391A>T (p.Lys131Ter) c.2833A>T (p.Lys945Ter) c.1153A>T (p.Lys385Ter) | |
X | g.108622727A>C | CA413852707 | COL4A5 | c.2819A>C (p.Lys940Thr) n.2275A>C c.52A>C c.2495A>C (p.Lys832Thr) c.392A>C (p.Lys131Thr) c.2834A>C (p.Lys945Thr) c.1154A>C (p.Lys385Thr) | |
X | g.108622727A>G | CA413852709 | COL4A5 | c.2819A>G (p.Lys940Arg) n.2275A>G c.52A>G c.2495A>G (p.Lys832Arg) c.392A>G (p.Lys131Arg) c.2834A>G (p.Lys945Arg) c.1154A>G (p.Lys385Arg) | |
X | g.108622727A>T | CA413852711 | COL4A5 | c.2819A>T (p.Lys940Ile) n.2275A>T c.52A>T c.2495A>T (p.Lys832Ile) c.392A>T (p.Lys131Ile) c.2834A>T (p.Lys945Ile) c.1154A>T (p.Lys385Ile) | |
X | g.108622728A= | CA2450696864 | COL4A5 | c.2820A= (p.Lys940=) n.2276A= c.53A= c.2496A= (p.Lys832=) c.393A= (p.Lys131=) c.2835A= (p.Lys945=) c.1155A= (p.Lys385=) | |
X | g.108622728A>C | CA413852714 | COL4A5 | c.2820A>C (p.Lys940Asn) n.2276A>C c.53A>C c.2496A>C (p.Lys832Asn) c.393A>C (p.Lys131Asn) c.2835A>C (p.Lys945Asn) c.1155A>C (p.Lys385Asn) | |
X | g.108622728A>G | CA517924754 | COL4A5 | c.2820A>G (p.Lys940=) n.2276A>G c.53A>G c.2496A>G (p.Lys832=) c.393A>G (p.Lys131=) c.2835A>G (p.Lys945=) c.1155A>G (p.Lys385=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108622728A>T | CA413852715 | COL4A5 | c.2820A>T (p.Lys940Asn) n.2276A>T c.53A>T c.2496A>T (p.Lys832Asn) c.393A>T (p.Lys131Asn) c.2835A>T (p.Lys945Asn) c.1155A>T (p.Lys385Asn) | |
X | g.108622729G>A | CA413852718 | COL4A5 | c.2821G>A (p.Gly941Ser) n.2277G>A c.54G>A c.2497G>A (p.Gly833Ser) c.394G>A (p.Gly132Ser) c.2836G>A (p.Gly946Ser) c.1156G>A (p.Gly386Ser) | |
X | g.108622729G>C | CA413852720 | COL4A5 | c.2821G>C (p.Gly941Arg) n.2277G>C c.54G>C c.2497G>C (p.Gly833Arg) c.394G>C (p.Gly132Arg) c.2836G>C (p.Gly946Arg) c.1156G>C (p.Gly386Arg) | ClinVar dbSNP |
X | g.108622729G= | CA2450696865 | COL4A5 | c.2821G= (p.Gly941=) n.2277G= c.54G= c.2497G= (p.Gly833=) c.394G= (p.Gly132=) c.2836G= (p.Gly946=) c.1156G= (p.Gly386=) | |
X | g.108622729G>T | CA258769 | COL4A5 | c.2821G>T (p.Gly941Cys) n.2277G>T c.54G>T c.2497G>T (p.Gly833Cys) c.394G>T (p.Gly132Cys) c.2836G>T (p.Gly946Cys) c.1156G>T (p.Gly386Cys) | ClinVar dbSNP COSMIC |
X | g.108622729_108622732delinsGGTA | CA2450696866 | COL4A5 | c.2821_2824delinsGGTA (p.Gly941=) n.2277_2280delinsGGTA c.54_57delinsGGTA c.2497_2500delinsGGTA (p.Gly833=) c.394_397delinsGGTA (p.Gly132=) c.2836_2839delinsGGTA (p.Gly946=) c.1156_1159delinsGGTA (p.Gly386=) | |
X | g.108622730G>A | CA413852723 | COL4A5 | c.2822G>A (p.Gly941Asp) n.2278G>A c.55G>A c.2498G>A (p.Gly833Asp) c.395G>A (p.Gly132Asp) c.2837G>A (p.Gly946Asp) c.1157G>A (p.Gly386Asp) | |
X | g.108622730G>C | CA413852725 | COL4A5 | c.2822G>C (p.Gly941Ala) n.2278G>C c.55G>C c.2498G>C (p.Gly833Ala) c.395G>C (p.Gly132Ala) c.2837G>C (p.Gly946Ala) c.1157G>C (p.Gly386Ala) | |
X | g.108622730G= | CA2450696867 | COL4A5 | c.2822G= (p.Gly941=) n.2278G= c.55G= c.2498G= (p.Gly833=) c.395G= (p.Gly132=) c.2837G= (p.Gly946=) c.1157G= (p.Gly386=) | |
X | g.108622730G>T | CA413852727 | COL4A5 | c.2822G>T (p.Gly941Val) n.2278G>T c.55G>T c.2498G>T (p.Gly833Val) c.395G>T (p.Gly132Val) c.2837G>T (p.Gly946Val) c.1157G>T (p.Gly386Val) | COSMIC COSMIC |
X | g.108622733_108622735del | CA258771 | COL4A5 | c.2825_2827del (p.Ser942del) n.2281_2283del c.58_60del c.2501_2503del (p.Ser834del) c.398_400del (p.Ser133del) c.2840_2842del (p.Ser947del) c.1160_1162del (p.Ser387del) | dbSNP |
X | g.108622731T>A | CA517924755 | COL4A5 | c.2823T>A (p.Gly941=) n.2279T>A c.56T>A c.2499T>A (p.Gly833=) c.396T>A (p.Gly132=) c.2838T>A (p.Gly946=) c.1158T>A (p.Gly386=) | |
X | g.108622731T>C | CA517924756 | COL4A5 | c.2823T>C (p.Gly941=) n.2279T>C c.56T>C c.2499T>C (p.Gly833=) c.396T>C (p.Gly132=) c.2838T>C (p.Gly946=) c.1158T>C (p.Gly386=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108622731T>G | CA517924757 | COL4A5 | c.2823T>G (p.Gly941=) n.2279T>G c.56T>G c.2499T>G (p.Gly833=) c.396T>G (p.Gly132=) c.2838T>G (p.Gly946=) c.1158T>G (p.Gly386=) | |
X | g.108622731T= | CA2450696868 | COL4A5 | c.2823T= (p.Gly941=) n.2279T= c.56T= c.2499T= (p.Gly833=) c.396T= (p.Gly132=) c.2838T= (p.Gly946=) c.1158T= (p.Gly386=) | |
X | g.108622732A>C | CA413852731 | COL4A5 | c.2824A>C (p.Ser942Arg) n.2280A>C c.57A>C c.2500A>C (p.Ser834Arg) c.397A>C (p.Ser133Arg) c.2839A>C (p.Ser947Arg) c.1159A>C (p.Ser387Arg) | |
X | g.108622732A>G | CA413852733 | COL4A5 | c.2824A>G (p.Ser942Gly) n.2280A>G c.57A>G c.2500A>G (p.Ser834Gly) c.397A>G (p.Ser133Gly) c.2839A>G (p.Ser947Gly) c.1159A>G (p.Ser387Gly) | gnomAD v4 |
X | g.108622732A>T | CA413852730 | COL4A5 | c.2824A>T (p.Ser942Cys) n.2280A>T c.57A>T c.2500A>T (p.Ser834Cys) c.397A>T (p.Ser133Cys) c.2839A>T (p.Ser947Cys) c.1159A>T (p.Ser387Cys) | |
X | g.108622733G>A | CA413852735 | COL4A5 | c.2825G>A (p.Ser942Asn) n.2281G>A c.58G>A c.2501G>A (p.Ser834Asn) c.398G>A (p.Ser133Asn) c.2840G>A (p.Ser947Asn) c.1160G>A (p.Ser387Asn) | |
X | g.108622733G>C | CA413852736 | COL4A5 | c.2825G>C (p.Ser942Thr) n.2281G>C c.58G>C c.2501G>C (p.Ser834Thr) c.398G>C (p.Ser133Thr) c.2840G>C (p.Ser947Thr) c.1160G>C (p.Ser387Thr) | |
X | g.108622733G>T | CA413852738 | COL4A5 | c.2825G>T (p.Ser942Ile) n.2281G>T c.58G>T c.2501G>T (p.Ser834Ile) c.398G>T (p.Ser133Ile) c.2840G>T (p.Ser947Ile) c.1160G>T (p.Ser387Ile) | |
X | g.108622734T>A | CA413852739 | COL4A5 | c.2826T>A (p.Ser942Arg) n.2282T>A c.59T>A c.2502T>A (p.Ser834Arg) c.399T>A (p.Ser133Arg) c.2841T>A (p.Ser947Arg) c.1161T>A (p.Ser387Arg) | |
X | g.108622734T>C | CA517924758 | COL4A5 | c.2826T>C (p.Ser942=) n.2282T>C c.59T>C c.2502T>C (p.Ser834=) c.399T>C (p.Ser133=) c.2841T>C (p.Ser947=) c.1161T>C (p.Ser387=) | dbSNP gnomAD v4 |
X | g.108622734T>G | CA413852741 | COL4A5 | c.2826T>G (p.Ser942Arg) n.2282T>G c.59T>G c.2502T>G (p.Ser834Arg) c.399T>G (p.Ser133Arg) c.2841T>G (p.Ser947Arg) c.1161T>G (p.Ser387Arg) | |
X | g.108622734T= | CA2450696869 | COL4A5 | c.2826T= (p.Ser942=) n.2282T= c.59T= c.2502T= (p.Ser834=) c.399T= (p.Ser133=) c.2841T= (p.Ser947=) c.1161T= (p.Ser387=) | |
X | g.108622735A>C | CA413852743 | COL4A5 | c.2827A>C (p.Lys943Gln) n.2283A>C c.60A>C c.2503A>C (p.Lys835Gln) c.400A>C (p.Lys134Gln) c.2842A>C (p.Lys948Gln) c.1162A>C (p.Lys388Gln) | |
X | g.108622735A>G | CA413852745 | COL4A5 | c.2827A>G (p.Lys943Glu) n.2283A>G c.60A>G c.2503A>G (p.Lys835Glu) c.400A>G (p.Lys134Glu) c.2842A>G (p.Lys948Glu) c.1162A>G (p.Lys388Glu) | |
X | g.108622735A>T | CA413852747 | COL4A5 | c.2827A>T (p.Lys943Ter) n.2283A>T c.60A>T c.2503A>T (p.Lys835Ter) c.400A>T (p.Lys134Ter) c.2842A>T (p.Lys948Ter) c.1162A>T (p.Lys388Ter) | COSMIC COSMIC |
X | g.108622737del | CA2579676576 | COL4A5 | c.2829del (p.Gly944GlufsTer?) n.2285del c.62del c.2505del (p.Gly836GlufsTer?) c.402del (p.Gly135GlufsTer?) c.2844del (p.Gly949GlufsTer?) c.1164del (p.Gly389GlufsTer?) | |
X | g.108622736A>C | CA413852749 | COL4A5 | c.2828A>C (p.Lys943Thr) n.2284A>C c.61A>C c.2504A>C (p.Lys835Thr) c.401A>C (p.Lys134Thr) c.2843A>C (p.Lys948Thr) c.1163A>C (p.Lys388Thr) | |
X | g.108622736A>G | CA413852752 | COL4A5 | c.2828A>G (p.Lys943Arg) n.2284A>G c.61A>G c.2504A>G (p.Lys835Arg) c.401A>G (p.Lys134Arg) c.2843A>G (p.Lys948Arg) c.1163A>G (p.Lys388Arg) | |
X | g.108622736A>T | CA413852754 | COL4A5 | c.2828A>T (p.Lys943Ile) n.2284A>T c.61A>T c.2504A>T (p.Lys835Ile) c.401A>T (p.Lys134Ile) c.2843A>T (p.Lys948Ile) c.1163A>T (p.Lys388Ile) | gnomAD v4 |
X | g.108622737A>C | CA413852757 | COL4A5 | c.2829A>C (p.Lys943Asn) n.2285A>C c.62A>C c.2505A>C (p.Lys835Asn) c.402A>C (p.Lys134Asn) c.2844A>C (p.Lys948Asn) c.1164A>C (p.Lys388Asn) | |
X | g.108622737A>G | CA517924759 | COL4A5 | c.2829A>G (p.Lys943=) n.2285A>G c.62A>G c.2505A>G (p.Lys835=) c.402A>G (p.Lys134=) c.2844A>G (p.Lys948=) c.1164A>G (p.Lys388=) | ClinVar dbSNP |
X | g.108622737A>T | CA413852758 | COL4A5 | c.2829A>T (p.Lys943Asn) n.2285A>T c.62A>T c.2505A>T (p.Lys835Asn) c.402A>T (p.Lys134Asn) c.2844A>T (p.Lys948Asn) c.1164A>T (p.Lys388Asn) | COSMIC COSMIC |
X | g.108622737_108622738delinsAG | CA2450696870 | COL4A5 | c.2829_2830delinsAG (p.Lys943=) n.2285_2286delinsAG c.62_63delinsAG c.2505_2506delinsAG (p.Lys835=) c.402_403delinsAG (p.Lys134=) c.2844_2845delinsAG (p.Lys948=) c.1164_1165delinsAG (p.Lys388=) | |
X | g.108622738G>A | CA413852761 | COL4A5 | c.2830G>A (p.Gly944Arg) n.2286G>A c.63G>A c.2506G>A (p.Gly836Arg) c.403G>A (p.Gly135Arg) c.2845G>A (p.Gly949Arg) c.1165G>A (p.Gly389Arg) | |
X | g.108622738G>C | CA413852760 | COL4A5 | c.2830G>C (p.Gly944Arg) n.2286G>C c.63G>C c.2506G>C (p.Gly836Arg) c.403G>C (p.Gly135Arg) c.2845G>C (p.Gly949Arg) c.1165G>C (p.Gly389Arg) | |
X | g.108622738G>T | CA413852759 | COL4A5 | c.2830G>T (p.Gly944Ter) n.2286G>T c.63G>T c.2506G>T (p.Gly836Ter) c.403G>T (p.Gly135Ter) c.2845G>T (p.Gly949Ter) c.1165G>T (p.Gly389Ter) | COSMIC COSMIC |
X | g.108622738_108622739delinsAA | CA645606859 | COL4A5 | c.2830_2831delinsAA (p.Gly944Lys) n.2286_2287delinsAA c.63_64delinsAA c.2506_2507delinsAA (p.Gly836Lys) c.403_404delinsAA (p.Gly135Lys) c.2845_2846delinsAA (p.Gly949Lys) c.1165_1166delinsAA (p.Gly389Lys) | COSMIC |
X | g.108622739del | CA891843946 | COL4A5 | c.2831del (p.Gly944GlufsTer?) n.2287del c.64del c.2507del (p.Gly836GlufsTer?) c.404del (p.Gly135GlufsTer?) c.2846del (p.Gly949GlufsTer?) c.1166del (p.Gly389GlufsTer?) | |
X | g.108622739G>A | CA413852762 | COL4A5 | c.2831G>A (p.Gly944Glu) n.2287G>A c.64G>A c.2507G>A (p.Gly836Glu) c.404G>A (p.Gly135Glu) c.2846G>A (p.Gly949Glu) c.1166G>A (p.Gly389Glu) | |
X | g.108622739G>C | CA413852763 | COL4A5 | c.2831G>C (p.Gly944Ala) n.2287G>C c.64G>C c.2507G>C (p.Gly836Ala) c.404G>C (p.Gly135Ala) c.2846G>C (p.Gly949Ala) c.1166G>C (p.Gly389Ala) | |
X | g.108622739G>T | CA413852764 | COL4A5 | c.2831G>T (p.Gly944Val) n.2287G>T c.64G>T c.2507G>T (p.Gly836Val) c.404G>T (p.Gly135Val) c.2846G>T (p.Gly949Val) c.1166G>T (p.Gly389Val) | |
X | g.108622742_108622743del | CA2579676577 | COL4A5 | c.2834_2835del (p.Glu945AlafsTer?) n.2290_2291del c.67_68del c.2510_2511del (p.Glu837AlafsTer?) c.407_408del (p.Glu136AlafsTer?) c.2849_2850del (p.Glu950AlafsTer?) c.1169_1170del (p.Glu390AlafsTer?) | |
X | g.108622740A>C | CA517924760 | COL4A5 | c.2832A>C (p.Gly944=) n.2288A>C c.65A>C c.2508A>C (p.Gly836=) c.405A>C (p.Gly135=) c.2847A>C (p.Gly949=) c.1167A>C (p.Gly389=) | |
X | g.108622740A>G | CA517924761 | COL4A5 | c.2832A>G (p.Gly944=) n.2288A>G c.65A>G c.2508A>G (p.Gly836=) c.405A>G (p.Gly135=) c.2847A>G (p.Gly949=) c.1167A>G (p.Gly389=) | |
X | g.108622740A>T | CA517924762 | COL4A5 | c.2832A>T (p.Gly944=) n.2288A>T c.65A>T c.2508A>T (p.Gly836=) c.405A>T (p.Gly135=) c.2847A>T (p.Gly949=) c.1167A>T (p.Gly389=) | |
X | g.108622741G>A | CA413852765 | COL4A5 | c.2833G>A (p.Glu945Lys) n.2289G>A c.66G>A c.2509G>A (p.Glu837Lys) c.406G>A (p.Glu136Lys) c.2848G>A (p.Glu950Lys) c.1168G>A (p.Glu390Lys) | |
X | g.108622741G>C | CA413852766 | COL4A5 | c.2833G>C (p.Glu945Gln) n.2289G>C c.66G>C c.2509G>C (p.Glu837Gln) c.406G>C (p.Glu136Gln) c.2848G>C (p.Glu950Gln) c.1168G>C (p.Glu390Gln) | |
X | g.108622741G>T | CA413852767 | COL4A5 | c.2833G>T (p.Glu945Ter) n.2289G>T c.66G>T c.2509G>T (p.Glu837Ter) c.406G>T (p.Glu136Ter) c.2848G>T (p.Glu950Ter) c.1168G>T (p.Glu390Ter) | ClinVar dbSNP |
X | g.108622742A>C | CA413852768 | COL4A5 | c.2834A>C (p.Glu945Ala) n.2290A>C c.67A>C c.2510A>C (p.Glu837Ala) c.407A>C (p.Glu136Ala) c.2849A>C (p.Glu950Ala) c.1169A>C (p.Glu390Ala) | |
X | g.108622742A>G | CA413852769 | COL4A5 | c.2834A>G (p.Glu945Gly) n.2290A>G c.67A>G c.2510A>G (p.Glu837Gly) c.407A>G (p.Glu136Gly) c.2849A>G (p.Glu950Gly) c.1169A>G (p.Glu390Gly) | |
X | g.108622742A>T | CA413852770 | COL4A5 | c.2834A>T (p.Glu945Val) n.2290A>T c.67A>T c.2510A>T (p.Glu837Val) c.407A>T (p.Glu136Val) c.2849A>T (p.Glu950Val) c.1169A>T (p.Glu390Val) | |
X | g.108622743G>A | CA517924763 | COL4A5 | c.2835G>A (p.Glu945=) n.2291G>A c.68G>A c.2511G>A (p.Glu837=) c.408G>A (p.Glu136=) c.2850G>A (p.Glu950=) c.1170G>A (p.Glu390=) | gnomAD v4 |
X | g.108622743G>C | CA413852771 | COL4A5 | c.2835G>C (p.Glu945Asp) n.2291G>C c.68G>C c.2511G>C (p.Glu837Asp) c.408G>C (p.Glu136Asp) c.2850G>C (p.Glu950Asp) c.1170G>C (p.Glu390Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108622743G= | CA2450696871 | COL4A5 | c.2835G= (p.Glu945=) n.2291G= c.68G= c.2511G= (p.Glu837=) c.408G= (p.Glu136=) c.2850G= (p.Glu950=) c.1170G= (p.Glu390=) | |
X | g.108622743G>T | CA10488989 | COL4A5 | c.2835G>T (p.Glu945Asp) n.2291G>T c.68G>T c.2511G>T (p.Glu837Asp) c.408G>T (p.Glu136Asp) c.2850G>T (p.Glu950Asp) c.1170G>T (p.Glu390Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108622743_108622744del | CA2573332558 | COL4A5 | c.2835_2836del (p.Glu945AspfsTer?) n.2291_2292del c.68_69del c.2511_2512del (p.Glu837AspfsTer?) c.408_409del (p.Glu136AspfsTer?) c.2850_2851del (p.Glu950AspfsTer?) c.1170_1171del (p.Glu390AspfsTer?) | |
X | g.108622744C>A | CA413852772 | COL4A5 | c.2836C>A (p.Pro946Thr) n.2292C>A c.69C>A c.2512C>A (p.Pro838Thr) c.409C>A (p.Pro137Thr) c.2851C>A (p.Pro951Thr) c.1171C>A (p.Pro391Thr) | |
X | g.108622744C= | CA2450696872 | COL4A5 | c.2836C= (p.Pro946=) n.2292C= c.69C= c.2512C= (p.Pro838=) c.409C= (p.Pro137=) c.2851C= (p.Pro951=) c.1171C= (p.Pro391=) | |
X | g.108622744C>G | CA10488990 | COL4A5 | c.2836C>G (p.Pro946Ala) n.2292C>G c.69C>G c.2512C>G (p.Pro838Ala) c.409C>G (p.Pro137Ala) c.2851C>G (p.Pro951Ala) c.1171C>G (p.Pro391Ala) | dbSNP ExAC gnomAD v2 |
X | g.108622744C>T | CA413852773 | COL4A5 | c.2836C>T (p.Pro946Ser) n.2292C>T c.69C>T c.2512C>T (p.Pro838Ser) c.409C>T (p.Pro137Ser) c.2851C>T (p.Pro951Ser) c.1171C>T (p.Pro391Ser) | |
X | g.108622745C>A | CA413852775 | COL4A5 | c.2837C>A (p.Pro946His) n.2293C>A c.70C>A c.2513C>A (p.Pro838His) c.410C>A (p.Pro137His) c.2852C>A (p.Pro951His) c.1172C>A (p.Pro391His) | |
X | g.108622745C>G | CA413852776 | COL4A5 | c.2837C>G (p.Pro946Arg) n.2293C>G c.70C>G c.2513C>G (p.Pro838Arg) c.410C>G (p.Pro137Arg) c.2852C>G (p.Pro951Arg) c.1172C>G (p.Pro391Arg) | |
X | g.108622745C>T | CA413852774 | COL4A5 | c.2837C>T (p.Pro946Leu) n.2293C>T c.70C>T c.2513C>T (p.Pro838Leu) c.410C>T (p.Pro137Leu) c.2852C>T (p.Pro951Leu) c.1172C>T (p.Pro391Leu) | |
X | g.108622746T>A | CA517924764 | COL4A5 | c.2838T>A (p.Pro946=) n.2294T>A c.71T>A c.2514T>A (p.Pro838=) c.411T>A (p.Pro137=) c.2853T>A (p.Pro951=) c.1173T>A (p.Pro391=) | |
X | g.108622746T>C | CA517924765 | COL4A5 | c.2838T>C (p.Pro946=) n.2294T>C c.71T>C c.2514T>C (p.Pro838=) c.411T>C (p.Pro137=) c.2853T>C (p.Pro951=) c.1173T>C (p.Pro391=) | |
X | g.108622746T>G | CA517924766 | COL4A5 | c.2838T>G (p.Pro946=) n.2294T>G c.71T>G c.2514T>G (p.Pro838=) c.411T>G (p.Pro137=) c.2853T>G (p.Pro951=) c.1173T>G (p.Pro391=) | |
X | g.108622747G>A | CA413852777 | COL4A5 | c.2839G>A (p.Gly947Ser) n.2295G>A c.72G>A c.2515G>A (p.Gly839Ser) c.412G>A (p.Gly138Ser) c.2854G>A (p.Gly952Ser) c.1174G>A (p.Gly392Ser) | |
X | g.108622747G>C | CA413852779 | COL4A5 | c.2839G>C (p.Gly947Arg) n.2295G>C c.72G>C c.2515G>C (p.Gly839Arg) c.412G>C (p.Gly138Arg) c.2854G>C (p.Gly952Arg) c.1174G>C (p.Gly392Arg) | |
X | g.108622747G>T | CA413852778 | COL4A5 | c.2839G>T (p.Gly947Cys) n.2295G>T c.72G>T c.2515G>T (p.Gly839Cys) c.412G>T (p.Gly138Cys) c.2854G>T (p.Gly952Cys) c.1174G>T (p.Gly392Cys) | |
X | g.108622748G>A | CA258774 | COL4A5 | c.2840G>A (p.Gly947Asp) n.2296G>A c.73G>A c.2516G>A (p.Gly839Asp) c.413G>A (p.Gly138Asp) c.2855G>A (p.Gly952Asp) c.1175G>A (p.Gly392Asp) | dbSNP |
X | g.108622748G>C | CA413852781 | COL4A5 | c.2840G>C (p.Gly947Ala) n.2296G>C c.73G>C c.2516G>C (p.Gly839Ala) c.413G>C (p.Gly138Ala) c.2855G>C (p.Gly952Ala) c.1175G>C (p.Gly392Ala) | |
X | g.108622748G= | CA2450696873 | COL4A5 | c.2840G= (p.Gly947=) n.2296G= c.73G= c.2516G= (p.Gly839=) c.413G= (p.Gly138=) c.2855G= (p.Gly952=) c.1175G= (p.Gly392=) | |
X | g.108622748G>T | CA413852780 | COL4A5 | c.2840G>T (p.Gly947Val) n.2296G>T c.73G>T c.2516G>T (p.Gly839Val) c.413G>T (p.Gly138Val) c.2855G>T (p.Gly952Val) c.1175G>T (p.Gly392Val) | |
X | g.108622749C>A | CA517924767 | COL4A5 | c.2841C>A (p.Gly947=) n.2297C>A c.74C>A c.2517C>A (p.Gly839=) c.414C>A (p.Gly138=) c.2856C>A (p.Gly952=) c.1176C>A (p.Gly392=) | |
X | g.108622749C>G | CA517924768 | COL4A5 | c.2841C>G (p.Gly947=) n.2297C>G c.74C>G c.2517C>G (p.Gly839=) c.414C>G (p.Gly138=) c.2856C>G (p.Gly952=) c.1176C>G (p.Gly392=) | |
X | g.108622749C>T | CA517924769 | COL4A5 | c.2841C>T (p.Gly947=) n.2297C>T c.74C>T c.2517C>T (p.Gly839=) c.414C>T (p.Gly138=) c.2856C>T (p.Gly952=) c.1176C>T (p.Gly392=) | |
X | g.108622750del | CA2695235224 | COL4A5 | c.2842del (p.Leu948PhefsTer?) n.2298del c.75del c.2518del (p.Leu840PhefsTer?) c.415del (p.Leu139PhefsTer?) c.2857del (p.Leu953PhefsTer?) c.1177del (p.Leu393PhefsTer?) | |
X | g.108622750C>A | CA413852782 | COL4A5 | c.2842C>A (p.Leu948Ile) n.2298C>A c.75C>A c.2518C>A (p.Leu840Ile) c.415C>A (p.Leu139Ile) c.2857C>A (p.Leu953Ile) c.1177C>A (p.Leu393Ile) | |
X | g.108622750C>G | CA413852783 | COL4A5 | c.2842C>G (p.Leu948Val) n.2298C>G c.75C>G c.2518C>G (p.Leu840Val) c.415C>G (p.Leu139Val) c.2857C>G (p.Leu953Val) c.1177C>G (p.Leu393Val) | |
X | g.108622750C>T | CA413852784 | COL4A5 | c.2842C>T (p.Leu948Phe) n.2298C>T c.75C>T c.2518C>T (p.Leu840Phe) c.415C>T (p.Leu139Phe) c.2857C>T (p.Leu953Phe) c.1177C>T (p.Leu393Phe) | COSMIC |
X | g.108622751T>A | CA413852785 | COL4A5 | c.2843T>A (p.Leu948His) n.2299T>A c.76T>A c.2519T>A (p.Leu840His) c.416T>A (p.Leu139His) c.2858T>A (p.Leu953His) c.1178T>A (p.Leu393His) | |
X | g.108622751T>C | CA413852786 | COL4A5 | c.2843T>C (p.Leu948Pro) n.2299T>C c.76T>C c.2519T>C (p.Leu840Pro) c.416T>C (p.Leu139Pro) c.2858T>C (p.Leu953Pro) c.1178T>C (p.Leu393Pro) | |
X | g.108622751T>G | CA413852787 | COL4A5 | c.2843T>G (p.Leu948Arg) n.2299T>G c.76T>G c.2519T>G (p.Leu840Arg) c.416T>G (p.Leu139Arg) c.2858T>G (p.Leu953Arg) c.1178T>G (p.Leu393Arg) | |
X | g.108622752T>A | CA517924770 | COL4A5 | c.2844T>A (p.Leu948=) n.2300T>A c.77T>A c.2520T>A (p.Leu840=) c.417T>A (p.Leu139=) c.2859T>A (p.Leu953=) c.1179T>A (p.Leu393=) | |
X | g.108622752T>C | CA334050713 | COL4A5 | c.2844T>C (p.Leu948=) n.2300T>C c.77T>C c.2520T>C (p.Leu840=) c.417T>C (p.Leu139=) c.2859T>C (p.Leu953=) c.1179T>C (p.Leu393=) | dbSNP |
X | g.108622752T>G | CA517924771 | COL4A5 | c.2844T>G (p.Leu948=) n.2300T>G c.77T>G c.2520T>G (p.Leu840=) c.417T>G (p.Leu139=) c.2859T>G (p.Leu953=) c.1179T>G (p.Leu393=) | |
X | g.108622752T= | CA2450696875 | COL4A5 | c.2844T= (p.Leu948=) n.2300T= c.77T= c.2520T= (p.Leu840=) c.417T= (p.Leu139=) c.2859T= (p.Leu953=) c.1179T= (p.Leu393=) | |
X | g.108622752_108622753delinsTC | CA2450696874 | COL4A5 | c.2844_2845delinsTC (p.Leu948=) n.2300_2301delinsTC c.77_78delinsTC c.2520_2521delinsTC (p.Leu840=) c.417_418delinsTC (p.Leu139=) c.2859_2860delinsTC (p.Leu953=) c.1179_1180delinsTC (p.Leu393=) | |
X | g.108622753C>A | CA413852788 | COL4A5 | c.2845C>A (p.Pro949Thr) n.2301C>A c.78C>A c.2521C>A (p.Pro841Thr) c.418C>A (p.Pro140Thr) c.2860C>A (p.Pro954Thr) c.1180C>A (p.Pro394Thr) | |
X | g.108622753C>G | CA413852789 | COL4A5 | c.2845C>G (p.Pro949Ala) n.2301C>G c.78C>G c.2521C>G (p.Pro841Ala) c.418C>G (p.Pro140Ala) c.2860C>G (p.Pro954Ala) c.1180C>G (p.Pro394Ala) | |
X | g.108622753C>T | CA413852790 | COL4A5 | c.2845C>T (p.Pro949Ser) n.2301C>T c.78C>T c.2521C>T (p.Pro841Ser) c.418C>T (p.Pro140Ser) c.2860C>T (p.Pro954Ser) c.1180C>T (p.Pro394Ser) | |
X | g.108622754del | CA258776 | COL4A5 | c.2846del (p.Pro949GlnfsTer?) n.2302del c.79del c.2522del (p.Pro841GlnfsTer?) c.419del (p.Pro140GlnfsTer?) c.2861del (p.Pro954GlnfsTer?) c.1181del (p.Pro394GlnfsTer?) | ClinVar dbSNP |
X | g.108622754C>A | CA413852793 | COL4A5 | c.2846C>A (p.Pro949Gln) n.2302C>A c.79C>A c.2522C>A (p.Pro841Gln) c.419C>A (p.Pro140Gln) c.2861C>A (p.Pro954Gln) c.1181C>A (p.Pro394Gln) | |
X | g.108622754C>G | CA413852791 | COL4A5 | c.2846C>G (p.Pro949Arg) n.2302C>G c.79C>G c.2522C>G (p.Pro841Arg) c.419C>G (p.Pro140Arg) c.2861C>G (p.Pro954Arg) c.1181C>G (p.Pro394Arg) | |
X | g.108622754C>T | CA413852792 | COL4A5 | c.2846C>T (p.Pro949Leu) n.2302C>T c.79C>T c.2522C>T (p.Pro841Leu) c.419C>T (p.Pro140Leu) c.2861C>T (p.Pro954Leu) c.1181C>T (p.Pro394Leu) | |
X | g.108622755A>C | CA517924773 | COL4A5 | c.2847A>C (p.Pro949=) n.2303A>C c.80A>C c.2523A>C (p.Pro841=) c.420A>C (p.Pro140=) c.2862A>C (p.Pro954=) c.1182A>C (p.Pro394=) | |
X | g.108622755A>G | CA517924772 | COL4A5 | c.2847A>G (p.Pro949=) n.2303A>G c.80A>G c.2523A>G (p.Pro841=) c.420A>G (p.Pro140=) c.2862A>G (p.Pro954=) c.1182A>G (p.Pro394=) | |
X | g.108622755A>T | CA517924774 | COL4A5 | c.2847A>T (p.Pro949=) n.2303A>T c.80A>T c.2523A>T (p.Pro841=) c.420A>T (p.Pro140=) c.2862A>T (p.Pro954=) c.1182A>T (p.Pro394=) | |
X | g.108622756G>A | CA413852794 | COL4A5 | c.2848G>A (p.Gly950Ser) n.2304G>A c.81G>A c.2524G>A (p.Gly842Ser) c.421G>A (p.Gly141Ser) c.2863G>A (p.Gly955Ser) c.1183G>A (p.Gly395Ser) | |
X | g.108622756G>C | CA413852795 | COL4A5 | c.2848G>C (p.Gly950Arg) n.2304G>C c.81G>C c.2524G>C (p.Gly842Arg) c.421G>C (p.Gly141Arg) c.2863G>C (p.Gly955Arg) c.1183G>C (p.Gly395Arg) | |
X | g.108622756G>T | CA413852796 | COL4A5 | c.2848G>T (p.Gly950Cys) n.2304G>T c.81G>T c.2524G>T (p.Gly842Cys) c.421G>T (p.Gly141Cys) c.2863G>T (p.Gly955Cys) c.1183G>T (p.Gly395Cys) | |
X | g.108622757G>A | CA413852797 | COL4A5 | c.2849G>A (p.Gly950Asp) n.2305G>A c.82G>A c.2525G>A (p.Gly842Asp) c.422G>A (p.Gly141Asp) c.2864G>A (p.Gly955Asp) c.1184G>A (p.Gly395Asp) | |
X | g.108622757G>C | CA413852798 | COL4A5 | c.2849G>C (p.Gly950Ala) n.2305G>C c.82G>C c.2525G>C (p.Gly842Ala) c.422G>C (p.Gly141Ala) c.2864G>C (p.Gly955Ala) c.1184G>C (p.Gly395Ala) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108622757G= | CA2450696876 | COL4A5 | c.2849G= (p.Gly950=) n.2305G= c.82G= c.2525G= (p.Gly842=) c.422G= (p.Gly141=) c.2864G= (p.Gly955=) c.1184G= (p.Gly395=) | |
X | g.108622757G>T | CA413852799 | COL4A5 | c.2849G>T (p.Gly950Val) n.2305G>T c.82G>T c.2525G>T (p.Gly842Val) c.422G>T (p.Gly141Val) c.2864G>T (p.Gly955Val) c.1184G>T (p.Gly395Val) | |
X | g.108622758C>A | CA517924775 | COL4A5 | c.2850C>A (p.Gly950=) n.2306C>A c.83C>A c.2526C>A (p.Gly842=) c.423C>A (p.Gly141=) c.2865C>A (p.Gly955=) c.1185C>A (p.Gly395=) | |
X | g.108622758C= | CA2450696877 | COL4A5 | c.2850C= (p.Gly950=) n.2306C= c.83C= c.2526C= (p.Gly842=) c.423C= (p.Gly141=) c.2865C= (p.Gly955=) c.1185C= (p.Gly395=) | |
X | g.108622758C>G | CA517924776 | COL4A5 | c.2850C>G (p.Gly950=) n.2306C>G c.83C>G c.2526C>G (p.Gly842=) c.423C>G (p.Gly141=) c.2865C>G (p.Gly955=) c.1185C>G (p.Gly395=) | |
X | g.108622758C>T | CA517924777 | COL4A5 | c.2850C>T (p.Gly950=) n.2306C>T c.83C>T c.2526C>T (p.Gly842=) c.423C>T (p.Gly141=) c.2865C>T (p.Gly955=) c.1185C>T (p.Gly395=) | ClinVar dbSNP gnomAD v4 |
X | g.108622759C>A | CA413852800 | COL4A5 | c.2851C>A (p.Pro951Thr) n.2307C>A c.84C>A c.2527C>A (p.Pro843Thr) c.424C>A (p.Pro142Thr) c.2866C>A (p.Pro956Thr) c.1186C>A (p.Pro396Thr) | |
X | g.108622759C>G | CA413852801 | COL4A5 | c.2851C>G (p.Pro951Ala) n.2307C>G c.84C>G c.2527C>G (p.Pro843Ala) c.424C>G (p.Pro142Ala) c.2866C>G (p.Pro956Ala) c.1186C>G (p.Pro396Ala) | |
X | g.108622759C>T | CA413852802 | COL4A5 | c.2851C>T (p.Pro951Ser) n.2307C>T c.84C>T c.2527C>T (p.Pro843Ser) c.424C>T (p.Pro142Ser) c.2866C>T (p.Pro956Ser) c.1186C>T (p.Pro396Ser) | |
X | g.108622760C>A | CA413852804 | COL4A5 | c.2852C>A (p.Pro951His) n.2308C>A c.85C>A c.2528C>A (p.Pro843His) c.425C>A (p.Pro142His) c.2867C>A (p.Pro956His) c.1187C>A (p.Pro396His) | |
X | g.108622760C>G | CA413852805 | COL4A5 | c.2852C>G (p.Pro951Arg) n.2308C>G c.85C>G c.2528C>G (p.Pro843Arg) c.425C>G (p.Pro142Arg) c.2867C>G (p.Pro956Arg) c.1187C>G (p.Pro396Arg) | gnomAD v4 |
X | g.108622760C>T | CA413852803 | COL4A5 | c.2852C>T (p.Pro951Leu) n.2308C>T c.85C>T c.2528C>T (p.Pro843Leu) c.425C>T (p.Pro142Leu) c.2867C>T (p.Pro956Leu) c.1187C>T (p.Pro396Leu) | |
X | g.108622761T>A | CA517924778 | COL4A5 | c.2853T>A (p.Pro951=) n.2309T>A c.86T>A c.2529T>A (p.Pro843=) c.426T>A (p.Pro142=) c.2868T>A (p.Pro956=) c.1188T>A (p.Pro396=) | |
X | g.108622761T>C | CA334050734 | COL4A5 | c.2853T>C (p.Pro951=) n.2309T>C c.86T>C c.2529T>C (p.Pro843=) c.426T>C (p.Pro142=) c.2868T>C (p.Pro956=) c.1188T>C (p.Pro396=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108622761T>G | CA517924779 | COL4A5 | c.2853T>G (p.Pro951=) n.2309T>G c.86T>G c.2529T>G (p.Pro843=) c.426T>G (p.Pro142=) c.2868T>G (p.Pro956=) c.1188T>G (p.Pro396=) | |
X | g.108622761T= | CA2450696878 | COL4A5 | c.2853T= (p.Pro951=) n.2309T= c.86T= c.2529T= (p.Pro843=) c.426T= (p.Pro142=) c.2868T= (p.Pro956=) c.1188T= (p.Pro396=) | |
X | g.108622762C>A | CA413852806 | COL4A5 | c.2854C>A (p.Pro952Thr) n.2310C>A c.87C>A c.2530C>A (p.Pro844Thr) c.427C>A (p.Pro143Thr) c.2869C>A (p.Pro957Thr) c.1189C>A (p.Pro397Thr) | |
X | g.108622762C= | CA2450696879 | COL4A5 | c.2854C= (p.Pro952=) n.2310C= c.87C= c.2530C= (p.Pro844=) c.427C= (p.Pro143=) c.2869C= (p.Pro957=) c.1189C= (p.Pro397=) | |
X | g.108622762C>G | CA413852807 | COL4A5 | c.2854C>G (p.Pro952Ala) n.2310C>G c.87C>G c.2530C>G (p.Pro844Ala) c.427C>G (p.Pro143Ala) c.2869C>G (p.Pro957Ala) c.1189C>G (p.Pro397Ala) | dbSNP gnomAD v4 |
X | g.108622762C>T | CA413852808 | COL4A5 | c.2854C>T (p.Pro952Ser) n.2310C>T c.87C>T c.2530C>T (p.Pro844Ser) c.427C>T (p.Pro143Ser) c.2869C>T (p.Pro957Ser) c.1189C>T (p.Pro397Ser) | |
X | g.108622763C>A | CA413852809 | COL4A5 | c.2855C>A (p.Pro952His) n.2311C>A c.88C>A c.2531C>A (p.Pro844His) c.428C>A (p.Pro143His) c.2870C>A (p.Pro957His) c.1190C>A (p.Pro397His) | |
X | g.108622763C>G | CA413852810 | COL4A5 | c.2855C>G (p.Pro952Arg) n.2311C>G c.88C>G c.2531C>G (p.Pro844Arg) c.428C>G (p.Pro143Arg) c.2870C>G (p.Pro957Arg) c.1190C>G (p.Pro397Arg) | |
X | g.108622763C>T | CA413852811 | COL4A5 | c.2855C>T (p.Pro952Leu) n.2311C>T c.88C>T c.2531C>T (p.Pro844Leu) c.428C>T (p.Pro143Leu) c.2870C>T (p.Pro957Leu) c.1190C>T (p.Pro397Leu) | COSMIC COSMIC |
X | g.108622764del | CA2499226321 | COL4A5 | c.2856del (p.Gly953AspfsTer?) n.2312del c.89del c.2532del (p.Gly845AspfsTer?) c.429del (p.Gly144AspfsTer?) c.2871del (p.Gly958AspfsTer?) c.1191del (p.Gly398AspfsTer?) | ClinVar dbSNP |
X | g.108622764T>A | CA517924780 | COL4A5 | c.2856T>A (p.Pro952=) n.2312T>A c.89T>A c.2532T>A (p.Pro844=) c.429T>A (p.Pro143=) c.2871T>A (p.Pro957=) c.1191T>A (p.Pro397=) | |
X | g.108622764T>C | CA517924781 | COL4A5 | c.2856T>C (p.Pro952=) n.2312T>C c.89T>C c.2532T>C (p.Pro844=) c.429T>C (p.Pro143=) c.2871T>C (p.Pro957=) c.1191T>C (p.Pro397=) | |
X | g.108622764T>G | CA517924782 | COL4A5 | c.2856T>G (p.Pro952=) n.2312T>G c.89T>G c.2532T>G (p.Pro844=) c.429T>G (p.Pro143=) c.2871T>G (p.Pro957=) c.1191T>G (p.Pro397=) | |
X | g.108622765G>A | CA413852813 | COL4A5 | c.2857G>A (p.Gly953Arg) n.2313G>A c.90G>A c.2533G>A (p.Gly845Arg) c.430G>A (p.Gly144Arg) c.2872G>A (p.Gly958Arg) c.1192G>A (p.Gly398Arg) | |
X | g.108622765G>C | CA413852815 | COL4A5 | c.2857G>C (p.Gly953Arg) n.2313G>C c.90G>C c.2533G>C (p.Gly845Arg) c.430G>C (p.Gly144Arg) c.2872G>C (p.Gly958Arg) c.1192G>C (p.Gly398Arg) | |
X | g.108622765G>T | CA413852818 | COL4A5 | c.2857G>T (p.Gly953Ter) n.2313G>T c.90G>T c.2533G>T (p.Gly845Ter) c.430G>T (p.Gly144Ter) c.2872G>T (p.Gly958Ter) c.1192G>T (p.Gly398Ter) | gnomAD v4 |
X | g.108622766G>A | CA413852821 | COL4A5 | c.2858G>A (p.Gly953Glu) n.2314G>A c.91G>A c.2534G>A (p.Gly845Glu) c.431G>A (p.Gly144Glu) c.2873G>A (p.Gly958Glu) c.1193G>A (p.Gly398Glu) | gnomAD v4 |
X | g.108622766G>C | CA413852823 | COL4A5 | c.2858G>C (p.Gly953Ala) n.2314G>C c.91G>C c.2534G>C (p.Gly845Ala) c.431G>C (p.Gly144Ala) c.2873G>C (p.Gly958Ala) c.1193G>C (p.Gly398Ala) | |
X | g.108622766G= | CA2450696880 | COL4A5 | c.2858G= (p.Gly953=) n.2314G= c.91G= c.2534G= (p.Gly845=) c.431G= (p.Gly144=) c.2873G= (p.Gly958=) c.1193G= (p.Gly398=) | |
X | g.108622766G>T | CA258777 | COL4A5 | c.2858G>T (p.Gly953Val) n.2314G>T c.91G>T c.2534G>T (p.Gly845Val) c.431G>T (p.Gly144Val) c.2873G>T (p.Gly958Val) c.1193G>T (p.Gly398Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108622767A>C | CA517924783 | COL4A5 | c.2859A>C (p.Gly953=) n.2315A>C c.92A>C c.2535A>C (p.Gly845=) c.432A>C (p.Gly144=) c.2874A>C (p.Gly958=) c.1194A>C (p.Gly398=) | |
X | g.108622767A>G | CA517924784 | COL4A5 | c.2859A>G (p.Gly953=) n.2315A>G c.92A>G c.2535A>G (p.Gly845=) c.432A>G (p.Gly144=) c.2874A>G (p.Gly958=) c.1194A>G (p.Gly398=) | ClinVar |
X | g.108622767A>T | CA517924785 | COL4A5 | c.2859A>T (p.Gly953=) n.2315A>T c.92A>T c.2535A>T (p.Gly845=) c.432A>T (p.Gly144=) c.2874A>T (p.Gly958=) c.1194A>T (p.Gly398=) | |
X | g.108622768C>A | CA413852830 | COL4A5 | c.2860C>A (p.Pro954Thr) n.2316C>A c.93C>A c.2536C>A (p.Pro846Thr) c.433C>A (p.Pro145Thr) c.2875C>A (p.Pro959Thr) c.1195C>A (p.Pro399Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108622768C= | CA2450696881 | COL4A5 | c.2860C= (p.Pro954=) n.2316C= c.93C= c.2536C= (p.Pro846=) c.433C= (p.Pro145=) c.2875C= (p.Pro959=) c.1195C= (p.Pro399=) | |
X | g.108622768C>G | CA413852826 | COL4A5 | c.2860C>G (p.Pro954Ala) n.2316C>G c.93C>G c.2536C>G (p.Pro846Ala) c.433C>G (p.Pro145Ala) c.2875C>G (p.Pro959Ala) c.1195C>G (p.Pro399Ala) | |
X | g.108622768C>T | CA413852828 | COL4A5 | c.2860C>T (p.Pro954Ser) n.2316C>T c.93C>T c.2536C>T (p.Pro846Ser) c.433C>T (p.Pro145Ser) c.2875C>T (p.Pro959Ser) c.1195C>T (p.Pro399Ser) | |
X | g.108622769dup | CA2695235225 | COL4A5 | c.2861dup (p.Met955AsnfsTer?) n.2317dup c.94dup c.2537dup (p.Met847AsnfsTer?) c.434dup (p.Met146AsnfsTer?) c.2876dup (p.Met960AsnfsTer?) c.1196dup (p.Met400AsnfsTer?) | |
X | g.108622769C>A | CA413852832 | COL4A5 | c.2861C>A (p.Pro954Gln) n.2317C>A c.94C>A c.2537C>A (p.Pro846Gln) c.434C>A (p.Pro145Gln) c.2876C>A (p.Pro959Gln) c.1196C>A (p.Pro399Gln) | gnomAD v4 |
X | g.108622769C>G | CA413852834 | COL4A5 | c.2861C>G (p.Pro954Arg) n.2317C>G c.94C>G c.2537C>G (p.Pro846Arg) c.434C>G (p.Pro145Arg) c.2876C>G (p.Pro959Arg) c.1196C>G (p.Pro399Arg) | |
X | g.108622769C>T | CA413852836 | COL4A5 | c.2861C>T (p.Pro954Leu) n.2317C>T c.94C>T c.2537C>T (p.Pro846Leu) c.434C>T (p.Pro145Leu) c.2876C>T (p.Pro959Leu) c.1196C>T (p.Pro399Leu) | |
X | g.108622770A>C | CA517924788 | COL4A5 | c.2862A>C (p.Pro954=) n.2318A>C c.95A>C c.2538A>C (p.Pro846=) c.435A>C (p.Pro145=) c.2877A>C (p.Pro959=) c.1197A>C (p.Pro399=) | |
X | g.108622770A>G | CA517924787 | COL4A5 | c.2862A>G (p.Pro954=) n.2318A>G c.95A>G c.2538A>G (p.Pro846=) c.435A>G (p.Pro145=) c.2877A>G (p.Pro959=) c.1197A>G (p.Pro399=) | |
X | g.108622770A>T | CA517924786 | COL4A5 | c.2862A>T (p.Pro954=) n.2318A>T c.95A>T c.2538A>T (p.Pro846=) c.435A>T (p.Pro145=) c.2877A>T (p.Pro959=) c.1197A>T (p.Pro399=) | |
X | g.108622771A>C | CA413852838 | COL4A5 | c.2863A>C (p.Met955Leu) n.2319A>C c.96A>C c.2539A>C (p.Met847Leu) c.436A>C (p.Met146Leu) c.2878A>C (p.Met960Leu) c.1198A>C (p.Met400Leu) | gnomAD v4 |
X | g.108622771A>G | CA413852840 | COL4A5 | c.2863A>G (p.Met955Val) n.2319A>G c.96A>G c.2539A>G (p.Met847Val) c.436A>G (p.Met146Val) c.2878A>G (p.Met960Val) c.1198A>G (p.Met400Val) | |
X | g.108622771A>T | CA413852842 | COL4A5 | c.2863A>T (p.Met955Leu) n.2319A>T c.96A>T c.2539A>T (p.Met847Leu) c.436A>T (p.Met146Leu) c.2878A>T (p.Met960Leu) c.1198A>T (p.Met400Leu) | |
X | g.108622772T>A | CA413852844 | COL4A5 | c.2864T>A (p.Met955Lys) n.2320T>A c.97T>A c.2540T>A (p.Met847Lys) c.437T>A (p.Met146Lys) c.2879T>A (p.Met960Lys) c.1199T>A (p.Met400Lys) | |
X | g.108622772T>C | CA413852846 | COL4A5 | c.2864T>C (p.Met955Thr) n.2320T>C c.97T>C c.2540T>C (p.Met847Thr) c.437T>C (p.Met146Thr) c.2879T>C (p.Met960Thr) c.1199T>C (p.Met400Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108622772T>G | CA413852848 | COL4A5 | c.2864T>G (p.Met955Arg) n.2320T>G c.97T>G c.2540T>G (p.Met847Arg) c.437T>G (p.Met146Arg) c.2879T>G (p.Met960Arg) c.1199T>G (p.Met400Arg) | |
X | g.108622772T= | CA2450696882 | COL4A5 | c.2864T= (p.Met955=) n.2320T= c.97T= c.2540T= (p.Met847=) c.437T= (p.Met146=) c.2879T= (p.Met960=) c.1199T= (p.Met400=) | |
X | g.108622773G>A | CA413852851 | COL4A5 | c.2865G>A (p.Met955Ile) n.2321G>A c.98G>A c.2541G>A (p.Met847Ile) c.438G>A (p.Met146Ile) c.2880G>A (p.Met960Ile) c.1200G>A (p.Met400Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.108622773G>C | CA413852852 | COL4A5 | c.2865G>C (p.Met955Ile) n.2321G>C c.98G>C c.2541G>C (p.Met847Ile) c.438G>C (p.Met146Ile) c.2880G>C (p.Met960Ile) c.1200G>C (p.Met400Ile) | |
X | g.108622773G= | CA2450696883 | COL4A5 | c.2865G= (p.Met955=) n.2321G= c.98G= c.2541G= (p.Met847=) c.438G= (p.Met146=) c.2880G= (p.Met960=) c.1200G= (p.Met400=) | |
X | g.108622773G>T | CA413852854 | COL4A5 | c.2865G>T (p.Met955Ile) n.2321G>T c.98G>T c.2541G>T (p.Met847Ile) c.438G>T (p.Met146Ile) c.2880G>T (p.Met960Ile) c.1200G>T (p.Met400Ile) | |
X | g.108622774G>A | CA413852858 | COL4A5 | c.2866G>A (p.Asp956Asn) n.2322G>A c.99G>A c.2542G>A (p.Asp848Asn) c.439G>A (p.Asp147Asn) c.2881G>A (p.Asp961Asn) c.1201G>A (p.Asp401Asn) | |
X | g.108622774G>C | CA413852860 | COL4A5 | c.2866G>C (p.Asp956His) n.2322G>C c.99G>C c.2542G>C (p.Asp848His) c.439G>C (p.Asp147His) c.2881G>C (p.Asp961His) c.1201G>C (p.Asp401His) | |
X | g.108622774G>T | CA413852857 | COL4A5 | c.2866G>T (p.Asp956Tyr) n.2322G>T c.99G>T c.2542G>T (p.Asp848Tyr) c.439G>T (p.Asp147Tyr) c.2881G>T (p.Asp961Tyr) c.1201G>T (p.Asp401Tyr) | gnomAD v4 |
X | g.108622775A>C | CA413852863 | COL4A5 | c.2867A>C (p.Asp956Ala) n.2323A>C c.100A>C c.2543A>C (p.Asp848Ala) c.440A>C (p.Asp147Ala) c.2882A>C (p.Asp961Ala) c.1202A>C (p.Asp401Ala) | |
X | g.108622775A>G | CA413852864 | COL4A5 | c.2867A>G (p.Asp956Gly) n.2323A>G c.100A>G c.2543A>G (p.Asp848Gly) c.440A>G (p.Asp147Gly) c.2882A>G (p.Asp961Gly) c.1202A>G (p.Asp401Gly) | |
X | g.108622775A>T | CA413852865 | COL4A5 | c.2867A>T (p.Asp956Val) n.2323A>T c.100A>T c.2543A>T (p.Asp848Val) c.440A>T (p.Asp147Val) c.2882A>T (p.Asp961Val) c.1202A>T (p.Asp401Val) | |
X | g.108622776T>A | CA413852867 | COL4A5 | c.2868T>A (p.Asp956Glu) n.2324T>A c.101T>A c.2544T>A (p.Asp848Glu) c.441T>A (p.Asp147Glu) c.2883T>A (p.Asp961Glu) c.1203T>A (p.Asp401Glu) | |
X | g.108622776T>C | CA517924789 | COL4A5 | c.2868T>C (p.Asp956=) n.2324T>C c.101T>C c.2544T>C (p.Asp848=) c.441T>C (p.Asp147=) c.2883T>C (p.Asp961=) c.1203T>C (p.Asp401=) | |
X | g.108622776T>G | CA413852869 | COL4A5 | c.2868T>G (p.Asp956Glu) n.2324T>G c.101T>G c.2544T>G (p.Asp848Glu) c.441T>G (p.Asp147Glu) c.2883T>G (p.Asp961Glu) c.1203T>G (p.Asp401Glu) | |
X | g.108622777C>A | CA413852876 | COL4A5 | c.2869C>A (p.Pro957Thr) n.2325C>A c.102C>A c.2545C>A (p.Pro849Thr) c.442C>A (p.Pro148Thr) c.2884C>A (p.Pro962Thr) c.1204C>A (p.Pro402Thr) | |
X | g.108622777C>G | CA413852874 | COL4A5 | c.2869C>G (p.Pro957Ala) n.2325C>G c.102C>G c.2545C>G (p.Pro849Ala) c.442C>G (p.Pro148Ala) c.2884C>G (p.Pro962Ala) c.1204C>G (p.Pro402Ala) | |
X | g.108622777C>T | CA413852872 | COL4A5 | c.2869C>T (p.Pro957Ser) n.2325C>T c.102C>T c.2545C>T (p.Pro849Ser) c.442C>T (p.Pro148Ser) c.2884C>T (p.Pro962Ser) c.1204C>T (p.Pro402Ser) | |
X | g.108622778C>A | CA413852878 | COL4A5 | c.2870C>A (p.Pro957Gln) n.2326C>A c.103C>A c.2546C>A (p.Pro849Gln) c.443C>A (p.Pro148Gln) c.2885C>A (p.Pro962Gln) c.1205C>A (p.Pro402Gln) | dbSNP |
X | g.108622778C= | CA2450696884 | COL4A5 | c.2870C= (p.Pro957=) n.2326C= c.103C= c.2546C= (p.Pro849=) c.443C= (p.Pro148=) c.2885C= (p.Pro962=) c.1205C= (p.Pro402=) | |
X | g.108622778C>G | CA413852880 | COL4A5 | c.2870C>G (p.Pro957Arg) n.2326C>G c.103C>G c.2546C>G (p.Pro849Arg) c.443C>G (p.Pro148Arg) c.2885C>G (p.Pro962Arg) c.1205C>G (p.Pro402Arg) | |
X | g.108622778C>T | CA413852881 | COL4A5 | c.2870C>T (p.Pro957Leu) n.2326C>T c.103C>T c.2546C>T (p.Pro849Leu) c.443C>T (p.Pro148Leu) c.2885C>T (p.Pro962Leu) c.1205C>T (p.Pro402Leu) | |
X | g.108622779A>C | CA517924790 | COL4A5 | c.2871A>C (p.Pro957=) n.2327A>C c.104A>C c.2547A>C (p.Pro849=) c.444A>C (p.Pro148=) c.2886A>C (p.Pro962=) c.1206A>C (p.Pro402=) | |
X | g.108622779A>G | CA517924791 | COL4A5 | c.2871A>G (p.Pro957=) n.2327A>G c.104A>G c.2547A>G (p.Pro849=) c.444A>G (p.Pro148=) c.2886A>G (p.Pro962=) c.1206A>G (p.Pro402=) | |
X | g.108622779A>T | CA517924792 | COL4A5 | c.2871A>T (p.Pro957=) n.2327A>T c.104A>T c.2547A>T (p.Pro849=) c.444A>T (p.Pro148=) c.2886A>T (p.Pro962=) c.1206A>T (p.Pro402=) | |
X | g.108622780A>C | CA413852884 | COL4A5 | c.2872A>C (p.Asn958His) n.2328A>C c.105A>C c.2548A>C (p.Asn850His) c.445A>C (p.Asn149His) c.2887A>C (p.Asn963His) c.1207A>C (p.Asn403His) | |
X | g.108622780A>G | CA413852886 | COL4A5 | c.2872A>G (p.Asn958Asp) n.2328A>G c.105A>G c.2548A>G (p.Asn850Asp) c.445A>G (p.Asn149Asp) c.2887A>G (p.Asn963Asp) c.1207A>G (p.Asn403Asp) | |
X | g.108622780A>T | CA413852888 | COL4A5 | c.2872A>T (p.Asn958Tyr) n.2328A>T c.105A>T c.2548A>T (p.Asn850Tyr) c.445A>T (p.Asn149Tyr) c.2887A>T (p.Asn963Tyr) c.1207A>T (p.Asn403Tyr) | |
X | g.108622781A>C | CA413852893 | COL4A5 | c.2873A>C (p.Asn958Thr) n.2329A>C c.106A>C c.2549A>C (p.Asn850Thr) c.446A>C (p.Asn149Thr) c.2888A>C (p.Asn963Thr) c.1208A>C (p.Asn403Thr) | |
X | g.108622781A>G | CA413852890 | COL4A5 | c.2873A>G (p.Asn958Ser) n.2329A>G c.106A>G c.2549A>G (p.Asn850Ser) c.446A>G (p.Asn149Ser) c.2888A>G (p.Asn963Ser) c.1208A>G (p.Asn403Ser) | |
X | g.108622781A>T | CA413852892 | COL4A5 | c.2873A>T (p.Asn958Ile) n.2329A>T c.106A>T c.2549A>T (p.Asn850Ile) c.446A>T (p.Asn149Ile) c.2888A>T (p.Asn963Ile) c.1208A>T (p.Asn403Ile) | |
X | g.108622781_108622784delinsATCT | CA2450696885 | COL4A5 | c.2873_2876delinsATCT (p.Asn958=) n.2329_2332delinsATCT c.106_109delinsATCT c.2549_2552delinsATCT (p.Asn850=) c.446_449delinsATCT (p.Asn149=) c.2888_2891delinsATCT (p.Asn963=) c.1208_1211delinsATCT (p.Asn403=) | |
X | g.108622782T>A | CA413852896 | COL4A5 | c.2874T>A (p.Asn958Lys) n.2330T>A c.107T>A c.2550T>A (p.Asn850Lys) c.447T>A (p.Asn149Lys) c.2889T>A (p.Asn963Lys) c.1209T>A (p.Asn403Lys) | |
X | g.108622782T>C | CA517924796 | COL4A5 | c.2874T>C (p.Asn958=) n.2330T>C c.107T>C c.2550T>C (p.Asn850=) c.447T>C (p.Asn149=) c.2889T>C (p.Asn963=) c.1209T>C (p.Asn403=) | |
X | g.108622782T>G | CA413852898 | COL4A5 | c.2874T>G (p.Asn958Lys) n.2330T>G c.107T>G c.2550T>G (p.Asn850Lys) c.447T>G (p.Asn149Lys) c.2889T>G (p.Asn963Lys) c.1209T>G (p.Asn403Lys) | |
X | g.108622785_108622787del | CA2450696886 | COL4A5 | c.2877_2879del (p.Leu960del) n.2333_2335del c.110_112del c.2553_2555del (p.Leu852del) c.450_452del (p.Leu151del) c.2892_2894del (p.Leu965del) c.1212_1214del (p.Leu405del) | dbSNP gnomAD v4 |
X | g.108622783C>A | CA413852900 | COL4A5 | c.2875C>A (p.Leu959Ile) n.2331C>A c.108C>A c.2551C>A (p.Leu851Ile) c.448C>A (p.Leu150Ile) c.2890C>A (p.Leu964Ile) c.1210C>A (p.Leu404Ile) | |
X | g.108622783C>G | CA413852902 | COL4A5 | c.2875C>G (p.Leu959Val) n.2331C>G c.108C>G c.2551C>G (p.Leu851Val) c.448C>G (p.Leu150Val) c.2890C>G (p.Leu964Val) c.1210C>G (p.Leu404Val) | |
X | g.108622783C>T | CA413852904 | COL4A5 | c.2875C>T (p.Leu959Phe) n.2331C>T c.108C>T c.2551C>T (p.Leu851Phe) c.448C>T (p.Leu150Phe) c.2890C>T (p.Leu964Phe) c.1210C>T (p.Leu404Phe) |