| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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) |