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.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.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) | |
X | g.108622784T>A | CA413852906 | COL4A5 | c.2876T>A (p.Leu959His) n.2332T>A c.109T>A c.2552T>A (p.Leu851His) c.449T>A (p.Leu150His) c.2891T>A (p.Leu964His) c.1211T>A (p.Leu404His) | |
X | g.108622784T>C | CA10488991 | COL4A5 | c.2876T>C (p.Leu959Pro) n.2332T>C c.109T>C c.2552T>C (p.Leu851Pro) c.449T>C (p.Leu150Pro) c.2891T>C (p.Leu964Pro) c.1211T>C (p.Leu404Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108622784T>G | CA413852908 | COL4A5 | c.2876T>G (p.Leu959Arg) n.2332T>G c.109T>G c.2552T>G (p.Leu851Arg) c.449T>G (p.Leu150Arg) c.2891T>G (p.Leu964Arg) c.1211T>G (p.Leu404Arg) | |
X | g.108622784T= | CA2450696887 | COL4A5 | c.2876T= (p.Leu959=) n.2332T= c.109T= c.2552T= (p.Leu851=) c.449T= (p.Leu150=) c.2891T= (p.Leu964=) c.1211T= (p.Leu404=) | |
X | g.108622785T>A | CA517924797 | COL4A5 | c.2877T>A (p.Leu959=) n.2333T>A c.110T>A c.2553T>A (p.Leu851=) c.450T>A (p.Leu150=) c.2892T>A (p.Leu964=) c.1212T>A (p.Leu404=) | |
X | g.108622785T>C | CA517924799 | COL4A5 | c.2877T>C (p.Leu959=) n.2333T>C c.110T>C c.2553T>C (p.Leu851=) c.450T>C (p.Leu150=) c.2892T>C (p.Leu964=) c.1212T>C (p.Leu404=) | |
X | g.108622785T>G | CA517924800 | COL4A5 | c.2877T>G (p.Leu959=) n.2333T>G c.110T>G c.2553T>G (p.Leu851=) c.450T>G (p.Leu150=) c.2892T>G (p.Leu964=) c.1212T>G (p.Leu404=) | |
X | g.108622786C>A | CA413852911 | COL4A5 | c.2878C>A (p.Leu960Met) n.2334C>A c.111C>A c.2554C>A (p.Leu852Met) c.451C>A (p.Leu151Met) c.2893C>A (p.Leu965Met) c.1213C>A (p.Leu405Met) | |
X | g.108622786C>G | CA413852913 | COL4A5 | c.2878C>G (p.Leu960Val) n.2334C>G c.111C>G c.2554C>G (p.Leu852Val) c.451C>G (p.Leu151Val) c.2893C>G (p.Leu965Val) c.1213C>G (p.Leu405Val) | |
X | g.108622786C>T | CA517924801 | COL4A5 | c.2878C>T (p.Leu960=) n.2334C>T c.111C>T c.2554C>T (p.Leu852=) c.451C>T (p.Leu151=) c.2893C>T (p.Leu965=) c.1213C>T (p.Leu405=) | |
X | g.108622787T>A | CA413852915 | COL4A5 | c.2879T>A (p.Leu960Gln) n.2335T>A c.112T>A c.2555T>A (p.Leu852Gln) c.452T>A (p.Leu151Gln) c.2894T>A (p.Leu965Gln) c.1214T>A (p.Leu405Gln) | |
X | g.108622787T>C | CA413852918 | COL4A5 | c.2879T>C (p.Leu960Pro) n.2335T>C c.112T>C c.2555T>C (p.Leu852Pro) c.452T>C (p.Leu151Pro) c.2894T>C (p.Leu965Pro) c.1214T>C (p.Leu405Pro) | |
X | g.108622787T>G | CA413852920 | COL4A5 | c.2879T>G (p.Leu960Arg) n.2335T>G c.112T>G c.2555T>G (p.Leu852Arg) c.452T>G (p.Leu151Arg) c.2894T>G (p.Leu965Arg) c.1214T>G (p.Leu405Arg) | |
X | g.108622788G>A | CA517924803 | COL4A5 | c.2880G>A (p.Leu960=) n.2336G>A c.113G>A c.2556G>A (p.Leu852=) c.453G>A (p.Leu151=) c.2895G>A (p.Leu965=) c.1215G>A (p.Leu405=) | |
X | g.108622788G>C | CA517924804 | COL4A5 | c.2880G>C (p.Leu960=) n.2336G>C c.113G>C c.2556G>C (p.Leu852=) c.453G>C (p.Leu151=) c.2895G>C (p.Leu965=) c.1215G>C (p.Leu405=) | |
X | g.108622788G>T | CA517924805 | COL4A5 | c.2880G>T (p.Leu960=) n.2336G>T c.113G>T c.2556G>T (p.Leu852=) c.453G>T (p.Leu151=) c.2895G>T (p.Leu965=) c.1215G>T (p.Leu405=) | |
X | g.108622790del | CA2695235226 | COL4A5 | c.2882del (p.Gly961AlafsTer?) n.2338del c.115del c.2558del (p.Gly853AlafsTer?) c.455del (p.Gly152AlafsTer?) c.2897del (p.Gly966AlafsTer?) c.1217del (p.Gly406AlafsTer?) | |
X | g.108622789G>A | CA413852922 | COL4A5 | c.2881G>A (p.Gly961Ser) n.2337G>A c.114G>A c.2557G>A (p.Gly853Ser) c.454G>A (p.Gly152Ser) c.2896G>A (p.Gly966Ser) c.1216G>A (p.Gly406Ser) | |
X | g.108622789G>C | CA413852926 | COL4A5 | c.2881G>C (p.Gly961Arg) n.2337G>C c.114G>C c.2557G>C (p.Gly853Arg) c.454G>C (p.Gly152Arg) c.2896G>C (p.Gly966Arg) c.1216G>C (p.Gly406Arg) | |
X | g.108622789G>T | CA413852924 | COL4A5 | c.2881G>T (p.Gly961Cys) n.2337G>T c.114G>T c.2557G>T (p.Gly853Cys) c.454G>T (p.Gly152Cys) c.2896G>T (p.Gly966Cys) c.1216G>T (p.Gly406Cys) | |
X | g.108622790G>A | CA413852928 | COL4A5 | c.2882G>A (p.Gly961Asp) n.2338G>A c.115G>A c.2558G>A (p.Gly853Asp) c.455G>A (p.Gly152Asp) c.2897G>A (p.Gly966Asp) c.1217G>A (p.Gly406Asp) | |
X | g.108622790G>C | CA413852930 | COL4A5 | c.2882G>C (p.Gly961Ala) n.2338G>C c.115G>C c.2558G>C (p.Gly853Ala) c.455G>C (p.Gly152Ala) c.2897G>C (p.Gly966Ala) c.1217G>C (p.Gly406Ala) | |
X | g.108622790G= | CA2450696888 | COL4A5 | c.2882G= (p.Gly961=) n.2338G= c.115G= c.2558G= (p.Gly853=) c.455G= (p.Gly152=) c.2897G= (p.Gly966=) c.1217G= (p.Gly406=) | |
X | g.108622790G>T | CA10488992 | COL4A5 | c.2882G>T (p.Gly961Val) n.2338G>T c.115G>T c.2558G>T (p.Gly853Val) c.455G>T (p.Gly152Val) c.2897G>T (p.Gly966Val) c.1217G>T (p.Gly406Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108622791C>A | CA517924811 | COL4A5 | c.2883C>A (p.Gly961=) n.2339C>A c.116C>A c.2559C>A (p.Gly853=) c.456C>A (p.Gly152=) c.2898C>A (p.Gly966=) c.1218C>A (p.Gly406=) | COSMIC COSMIC |
X | g.108622791C>G | CA517924809 | COL4A5 | c.2883C>G (p.Gly961=) n.2339C>G c.116C>G c.2559C>G (p.Gly853=) c.456C>G (p.Gly152=) c.2898C>G (p.Gly966=) c.1218C>G (p.Gly406=) | |
X | g.108622791C>T | CA517924807 | COL4A5 | c.2883C>T (p.Gly961=) n.2339C>T c.116C>T c.2559C>T (p.Gly853=) c.456C>T (p.Gly152=) c.2898C>T (p.Gly966=) c.1218C>T (p.Gly406=) | ClinVar dbSNP |
X | g.108622792T>A | CA413852933 | COL4A5 | c.2884T>A (p.Ser962Thr) n.2340T>A c.117T>A c.2560T>A (p.Ser854Thr) c.457T>A (p.Ser153Thr) c.2899T>A (p.Ser967Thr) c.1219T>A (p.Ser407Thr) | |
X | g.108622792T>C | CA413852935 | COL4A5 | c.2884T>C (p.Ser962Pro) n.2340T>C c.117T>C c.2560T>C (p.Ser854Pro) c.457T>C (p.Ser153Pro) c.2899T>C (p.Ser967Pro) c.1219T>C (p.Ser407Pro) | |
X | g.108622792T>G | CA413852937 | COL4A5 | c.2884T>G (p.Ser962Ala) n.2340T>G c.117T>G c.2560T>G (p.Ser854Ala) c.457T>G (p.Ser153Ala) c.2899T>G (p.Ser967Ala) c.1219T>G (p.Ser407Ala) | |
X | g.108622793C>A | CA413852940 | COL4A5 | c.2885C>A (p.Ser962Ter) n.2341C>A c.118C>A c.2561C>A (p.Ser854Ter) c.458C>A (p.Ser153Ter) c.2900C>A (p.Ser967Ter) c.1220C>A (p.Ser407Ter) | |
X | g.108622793C>G | CA413852942 | COL4A5 | c.2885C>G (p.Ser962Ter) n.2341C>G c.118C>G c.2561C>G (p.Ser854Ter) c.458C>G (p.Ser153Ter) c.2900C>G (p.Ser967Ter) c.1220C>G (p.Ser407Ter) | |
X | g.108622793C>T | CA413852943 | COL4A5 | c.2885C>T (p.Ser962Leu) n.2341C>T c.118C>T c.2561C>T (p.Ser854Leu) c.458C>T (p.Ser153Leu) c.2900C>T (p.Ser967Leu) c.1220C>T (p.Ser407Leu) | |
X | g.108622794A= | CA2450696889 | COL4A5 | c.2886A= (p.Ser962=) n.2342A= c.119A= c.2562A= (p.Ser854=) c.459A= (p.Ser153=) c.2901A= (p.Ser967=) c.1221A= (p.Ser407=) | |
X | g.108622794A>C | CA517924812 | COL4A5 | c.2886A>C (p.Ser962=) n.2342A>C c.119A>C c.2562A>C (p.Ser854=) c.459A>C (p.Ser153=) c.2901A>C (p.Ser967=) c.1221A>C (p.Ser407=) | |
X | g.108622794A>G | CA10488993 | COL4A5 | c.2886A>G (p.Ser962=) n.2342A>G c.119A>G c.2562A>G (p.Ser854=) c.459A>G (p.Ser153=) c.2901A>G (p.Ser967=) c.1221A>G (p.Ser407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108622794A>T | CA517924813 | COL4A5 | c.2886A>T (p.Ser962=) n.2342A>T c.119A>T c.2562A>T (p.Ser854=) c.459A>T (p.Ser153=) c.2901A>T (p.Ser967=) c.1221A>T (p.Ser407=) | |
X | g.108622797del | CA2540697012 | COL4A5 | c.2889del (p.Gly964GlufsTer?) n.2345del c.122del c.2565del (p.Gly856GlufsTer?) c.462del (p.Gly155GlufsTer?) c.2904del (p.Gly969GlufsTer?) c.1224del (p.Gly409GlufsTer?) | ClinVar |
X | g.108622795A= | CA2450696890 | COL4A5 | c.2887A= (p.Lys963=) n.2343A= c.120A= c.2563A= (p.Lys855=) c.460A= (p.Lys154=) c.2902A= (p.Lys968=) c.1222A= (p.Lys408=) | |
X | g.108622795A>C | CA413852945 | COL4A5 | c.2887A>C (p.Lys963Gln) n.2343A>C c.120A>C c.2563A>C (p.Lys855Gln) c.460A>C (p.Lys154Gln) c.2902A>C (p.Lys968Gln) c.1222A>C (p.Lys408Gln) | |
X | g.108622795A>G | CA413852946 | COL4A5 | c.2887A>G (p.Lys963Glu) n.2343A>G c.120A>G c.2563A>G (p.Lys855Glu) c.460A>G (p.Lys154Glu) c.2902A>G (p.Lys968Glu) c.1222A>G (p.Lys408Glu) | dbSNP gnomAD v4 |
X | g.108622795A>T | CA413852948 | COL4A5 | c.2887A>T (p.Lys963Ter) n.2343A>T c.120A>T c.2563A>T (p.Lys855Ter) c.460A>T (p.Lys154Ter) c.2902A>T (p.Lys968Ter) c.1222A>T (p.Lys408Ter) | |
X | g.108622796A>C | CA413852954 | COL4A5 | c.2888A>C (p.Lys963Thr) n.2344A>C c.121A>C c.2564A>C (p.Lys855Thr) c.461A>C (p.Lys154Thr) c.2903A>C (p.Lys968Thr) c.1223A>C (p.Lys408Thr) | COSMIC |
X | g.108622796A>G | CA413852951 | COL4A5 | c.2888A>G (p.Lys963Arg) n.2344A>G c.121A>G c.2564A>G (p.Lys855Arg) c.461A>G (p.Lys154Arg) c.2903A>G (p.Lys968Arg) c.1223A>G (p.Lys408Arg) | |
X | g.108622796A>T | CA413852952 | COL4A5 | c.2888A>T (p.Lys963Ile) n.2344A>T c.121A>T c.2564A>T (p.Lys855Ile) c.461A>T (p.Lys154Ile) c.2903A>T (p.Lys968Ile) c.1223A>T (p.Lys408Ile) | |
X | g.108622800_108622807dup | CA916083992 | COL4A5 | c.2892_2899dup (p.Gly967GlufsTer32) n.2348_2355dup c.125_132dup c.2568_2575dup (p.Gly859GlufsTer32) c.465_472dup (p.Gly158GlufsTer32) c.2907_2914dup (p.Gly972GlufsTer32) c.1227_1234dup (p.Gly412GlufsTer32) | ClinVar dbSNP |
X | g.108622797A>C | CA413852957 | COL4A5 | c.2889A>C (p.Lys963Asn) n.2345A>C c.122A>C c.2565A>C (p.Lys855Asn) c.462A>C (p.Lys154Asn) c.2904A>C (p.Lys968Asn) c.1224A>C (p.Lys408Asn) | |
X | g.108622797A>G | CA517924818 | COL4A5 | c.2889A>G (p.Lys963=) n.2345A>G c.122A>G c.2565A>G (p.Lys855=) c.462A>G (p.Lys154=) c.2904A>G (p.Lys968=) c.1224A>G (p.Lys408=) | |
X | g.108622797A>T | CA413852959 | COL4A5 | c.2889A>T (p.Lys963Asn) n.2345A>T c.122A>T c.2565A>T (p.Lys855Asn) c.462A>T (p.Lys154Asn) c.2904A>T (p.Lys968Asn) c.1224A>T (p.Lys408Asn) | |
X | g.108622798G>A | CA413852961 | COL4A5 | c.2890G>A (p.Gly964Arg) n.2346G>A c.123G>A c.2566G>A (p.Gly856Arg) c.463G>A (p.Gly155Arg) c.2905G>A (p.Gly969Arg) c.1225G>A (p.Gly409Arg) | gnomAD v4 |
X | g.108622798G>C | CA413852963 | COL4A5 | c.2890G>C (p.Gly964Arg) n.2346G>C c.123G>C c.2566G>C (p.Gly856Arg) c.463G>C (p.Gly155Arg) c.2905G>C (p.Gly969Arg) c.1225G>C (p.Gly409Arg) | |
X | g.108622798G>T | CA413852964 | COL4A5 | c.2890G>T (p.Gly964Ter) n.2346G>T c.123G>T c.2566G>T (p.Gly856Ter) c.463G>T (p.Gly155Ter) c.2905G>T (p.Gly969Ter) c.1225G>T (p.Gly409Ter) | |
X | g.108622799G>A | CA413852966 | COL4A5 | c.2891G>A (p.Gly964Glu) n.2347G>A c.124G>A c.2567G>A (p.Gly856Glu) c.464G>A (p.Gly155Glu) c.2906G>A (p.Gly969Glu) c.1226G>A (p.Gly409Glu) | COSMIC COSMIC |
X | g.108622799G>C | CA413852968 | COL4A5 | c.2891G>C (p.Gly964Ala) n.2347G>C c.124G>C c.2567G>C (p.Gly856Ala) c.464G>C (p.Gly155Ala) c.2906G>C (p.Gly969Ala) c.1226G>C (p.Gly409Ala) | |
X | g.108622799G>T | CA413852970 | COL4A5 | c.2891G>T (p.Gly964Val) n.2347G>T c.124G>T c.2567G>T (p.Gly856Val) c.464G>T (p.Gly155Val) c.2906G>T (p.Gly969Val) c.1226G>T (p.Gly409Val) | |
X | g.108622800A>C | CA517924820 | COL4A5 | c.2892A>C (p.Gly964=) n.2348A>C c.125A>C c.2568A>C (p.Gly856=) c.465A>C (p.Gly155=) c.2907A>C (p.Gly969=) c.1227A>C (p.Gly409=) | |
X | g.108622800A>G | CA517924821 | COL4A5 | c.2892A>G (p.Gly964=) n.2348A>G c.125A>G c.2568A>G (p.Gly856=) c.465A>G (p.Gly155=) c.2907A>G (p.Gly969=) c.1227A>G (p.Gly409=) | |
X | g.108622800A>T | CA517924822 | COL4A5 | c.2892A>T (p.Gly964=) n.2348A>T c.125A>T c.2568A>T (p.Gly856=) c.465A>T (p.Gly155=) c.2907A>T (p.Gly969=) c.1227A>T (p.Gly409=) | |
X | g.108622801G>A | CA413852972 | COL4A5 | c.2893G>A (p.Glu965Lys) n.2349G>A c.126G>A c.2569G>A (p.Glu857Lys) c.466G>A (p.Glu156Lys) c.2908G>A (p.Glu970Lys) c.1228G>A (p.Glu410Lys) | gnomAD v4 |
X | g.108622801G>C | CA413852974 | COL4A5 | c.2893G>C (p.Glu965Gln) n.2349G>C c.126G>C c.2569G>C (p.Glu857Gln) c.466G>C (p.Glu156Gln) c.2908G>C (p.Glu970Gln) c.1228G>C (p.Glu410Gln) | |
X | g.108622801G>T | CA413852976 | COL4A5 | c.2893G>T (p.Glu965Ter) n.2349G>T c.126G>T c.2569G>T (p.Glu857Ter) c.466G>T (p.Glu156Ter) c.2908G>T (p.Glu970Ter) c.1228G>T (p.Glu410Ter) | |
X | g.108622802A>C | CA413852982 | COL4A5 | c.2894A>C (p.Glu965Ala) n.2350A>C c.127A>C c.2570A>C (p.Glu857Ala) c.467A>C (p.Glu156Ala) c.2909A>C (p.Glu970Ala) c.1229A>C (p.Glu410Ala) | |
X | g.108622802A>G | CA413852980 | COL4A5 | c.2894A>G (p.Glu965Gly) n.2350A>G c.127A>G c.2570A>G (p.Glu857Gly) c.467A>G (p.Glu156Gly) c.2909A>G (p.Glu970Gly) c.1229A>G (p.Glu410Gly) | |
X | g.108622802A>T | CA413852978 | COL4A5 | c.2894A>T (p.Glu965Val) n.2350A>T c.127A>T c.2570A>T (p.Glu857Val) c.467A>T (p.Glu156Val) c.2909A>T (p.Glu970Val) c.1229A>T (p.Glu410Val) | |
X | g.108622803G>A | CA517924828 | COL4A5 | c.2895G>A (p.Glu965=) n.2351G>A c.128G>A c.2571G>A (p.Glu857=) c.468G>A (p.Glu156=) c.2910G>A (p.Glu970=) c.1230G>A (p.Glu410=) | gnomAD v4 |
X | g.108622803G>C | CA413852984 | COL4A5 | c.2895G>C (p.Glu965Asp) n.2351G>C c.128G>C c.2571G>C (p.Glu857Asp) c.468G>C (p.Glu156Asp) c.2910G>C (p.Glu970Asp) c.1230G>C (p.Glu410Asp) | |
X | g.108622803G>T | CA413852986 | COL4A5 | c.2895G>T (p.Glu965Asp) n.2351G>T c.128G>T c.2571G>T (p.Glu857Asp) c.468G>T (p.Glu156Asp) c.2910G>T (p.Glu970Asp) c.1230G>T (p.Glu410Asp) | |
X | g.108622804A>C | CA413852988 | COL4A5 | c.2896A>C (p.Lys966Gln) n.2352A>C c.129A>C c.2572A>C (p.Lys858Gln) c.469A>C (p.Lys157Gln) c.2911A>C (p.Lys971Gln) c.1231A>C (p.Lys411Gln) | |
X | g.108622804A>G | CA413852991 | COL4A5 | c.2896A>G (p.Lys966Glu) n.2352A>G c.129A>G c.2572A>G (p.Lys858Glu) c.469A>G (p.Lys157Glu) c.2911A>G (p.Lys971Glu) c.1231A>G (p.Lys411Glu) | |
X | g.108622804A>T | CA413852990 | COL4A5 | c.2896A>T (p.Lys966Ter) n.2352A>T c.129A>T c.2572A>T (p.Lys858Ter) c.469A>T (p.Lys157Ter) c.2911A>T (p.Lys971Ter) c.1231A>T (p.Lys411Ter) | |
X | g.108622805A>C | CA413852994 | COL4A5 | c.2897A>C (p.Lys966Thr) n.2353A>C c.130A>C c.2573A>C (p.Lys858Thr) c.470A>C (p.Lys157Thr) c.2912A>C (p.Lys971Thr) c.1232A>C (p.Lys411Thr) | |
X | g.108622805A>G | CA413852998 | COL4A5 | c.2897A>G (p.Lys966Arg) n.2353A>G c.130A>G c.2573A>G (p.Lys858Arg) c.470A>G (p.Lys157Arg) c.2912A>G (p.Lys971Arg) c.1232A>G (p.Lys411Arg) | |
X | g.108622805A>T | CA413852996 | COL4A5 | c.2897A>T (p.Lys966Met) n.2353A>T c.130A>T c.2573A>T (p.Lys858Met) c.470A>T (p.Lys157Met) c.2912A>T (p.Lys971Met) c.1232A>T (p.Lys411Met) | |
X | g.108622806G>A | CA517924832 | COL4A5 | c.2898G>A (p.Lys966=) n.2354G>A c.131G>A c.2574G>A (p.Lys858=) c.471G>A (p.Lys157=) c.2913G>A (p.Lys971=) c.1233G>A (p.Lys411=) | gnomAD v4 |
X | g.108622806G>C | CA413853000 | COL4A5 | c.2898G>C (p.Lys966Asn) n.2354G>C c.131G>C c.2574G>C (p.Lys858Asn) c.471G>C (p.Lys157Asn) c.2913G>C (p.Lys971Asn) c.1233G>C (p.Lys411Asn) | |
X | g.108622806G>T | CA413853002 | COL4A5 | c.2898G>T (p.Lys966Asn) n.2354G>T c.131G>T c.2574G>T (p.Lys858Asn) c.471G>T (p.Lys157Asn) c.2913G>T (p.Lys971Asn) c.1233G>T (p.Lys411Asn) | |
X | g.108622810dup | CA2695235228 | COL4A5 | c.2902dup (p.Glu968GlyfsTer?) n.2358dup c.135dup c.2578dup (p.Glu860GlyfsTer?) c.475dup (p.Glu159GlyfsTer?) c.2917dup (p.Glu973GlyfsTer?) c.1237dup (p.Glu413GlyfsTer?) | ClinVar |
X | g.108622810del | CA2573159093 | COL4A5 | c.2902del (p.Glu968AsnfsTer28) n.2358del c.135del c.2578del (p.Glu860AsnfsTer28) c.475del (p.Glu159AsnfsTer28) c.2917del (p.Glu973AsnfsTer28) c.1237del (p.Glu413AsnfsTer28) | ClinVar dbSNP |
X | g.108622808_108622817del | CA2695235227 | COL4A5 | c.2900_2909del (p.Gly967AlafsTer26) n.2356_2365del c.133_142del c.2576_2585del (p.Gly859AlafsTer26) c.473_482del (p.Gly158AlafsTer26) c.2915_2924del (p.Gly972AlafsTer26) c.1235_1244del (p.Gly412AlafsTer26) | |
X | g.108622807G>A | CA413853004 | COL4A5 | c.2899G>A (p.Gly967Arg) n.2355G>A c.132G>A c.2575G>A (p.Gly859Arg) c.472G>A (p.Gly158Arg) c.2914G>A (p.Gly972Arg) c.1234G>A (p.Gly412Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108622807G>C | CA413853006 | COL4A5 | c.2899G>C (p.Gly967Arg) n.2355G>C c.132G>C c.2575G>C (p.Gly859Arg) c.472G>C (p.Gly158Arg) c.2914G>C (p.Gly972Arg) c.1234G>C (p.Gly412Arg) | |
X | g.108622807G= | CA2450696891 | COL4A5 | c.2899G= (p.Gly967=) n.2355G= c.132G= c.2575G= (p.Gly859=) c.472G= (p.Gly158=) c.2914G= (p.Gly972=) c.1234G= (p.Gly412=) | |
X | g.108622807G>T | CA413853007 | COL4A5 | c.2899G>T (p.Gly967Trp) n.2355G>T c.132G>T c.2575G>T (p.Gly859Trp) c.472G>T (p.Gly158Trp) c.2914G>T (p.Gly972Trp) c.1234G>T (p.Gly412Trp) | |
X | g.108622808G>A | CA413853010 | COL4A5 | c.2900G>A (p.Gly967Glu) n.2356G>A c.133G>A c.2576G>A (p.Gly859Glu) c.473G>A (p.Gly158Glu) c.2915G>A (p.Gly972Glu) c.1235G>A (p.Gly412Glu) | COSMIC COSMIC |
X | g.108622808G>C | CA413853012 | COL4A5 | c.2900G>C (p.Gly967Ala) n.2356G>C c.133G>C c.2576G>C (p.Gly859Ala) c.473G>C (p.Gly158Ala) c.2915G>C (p.Gly972Ala) c.1235G>C (p.Gly412Ala) | |
X | g.108622808G>T | CA413853013 | COL4A5 | c.2900G>T (p.Gly967Val) n.2356G>T c.133G>T c.2576G>T (p.Gly859Val) c.473G>T (p.Gly158Val) c.2915G>T (p.Gly972Val) c.1235G>T (p.Gly412Val) | |
X | g.108622809G>A | CA517924835 | COL4A5 | c.2901G>A (p.Gly967=) n.2357G>A c.134G>A c.2577G>A (p.Gly859=) c.474G>A (p.Gly158=) c.2916G>A (p.Gly972=) c.1236G>A (p.Gly412=) | |
X | g.108622809G>C | CA517924837 | COL4A5 | c.2901G>C (p.Gly967=) n.2357G>C c.134G>C c.2577G>C (p.Gly859=) c.474G>C (p.Gly158=) c.2916G>C (p.Gly972=) c.1236G>C (p.Gly412=) | |
X | g.108622809G>T | CA517924839 | COL4A5 | c.2901G>T (p.Gly967=) n.2357G>T c.134G>T c.2577G>T (p.Gly859=) c.474G>T (p.Gly158=) c.2916G>T (p.Gly972=) c.1236G>T (p.Gly412=) | ClinVar |
X | g.108622810G>A | CA413853016 | COL4A5 | c.2902G>A (p.Glu968Lys) n.2358G>A c.135G>A c.2578G>A (p.Glu860Lys) c.475G>A (p.Glu159Lys) c.2917G>A (p.Glu973Lys) c.1237G>A (p.Glu413Lys) | COSMIC COSMIC |
X | g.108622810G>C | CA413853018 | COL4A5 | c.2902G>C (p.Glu968Gln) n.2358G>C c.135G>C c.2578G>C (p.Glu860Gln) c.475G>C (p.Glu159Gln) c.2917G>C (p.Glu973Gln) c.1237G>C (p.Glu413Gln) | |
X | g.108622810G>T | CA413853019 | COL4A5 | c.2902G>T (p.Glu968Ter) n.2358G>T c.135G>T c.2578G>T (p.Glu860Ter) c.475G>T (p.Glu159Ter) c.2917G>T (p.Glu973Ter) c.1237G>T (p.Glu413Ter) | |
X | g.108622811A= | CA2450696892 | COL4A5 | c.2903A= (p.Glu968=) n.2359A= c.136A= c.2579A= (p.Glu860=) c.476A= (p.Glu159=) c.2918A= (p.Glu973=) c.1238A= (p.Glu413=) | |
X | g.108622811A>C | CA413853022 | COL4A5 | c.2903A>C (p.Glu968Ala) n.2359A>C c.136A>C c.2579A>C (p.Glu860Ala) c.476A>C (p.Glu159Ala) c.2918A>C (p.Glu973Ala) c.1238A>C (p.Glu413Ala) | |
X | g.108622811A>G | CA413853024 | COL4A5 | c.2903A>G (p.Glu968Gly) n.2359A>G c.136A>G c.2579A>G (p.Glu860Gly) c.476A>G (p.Glu159Gly) c.2918A>G (p.Glu973Gly) c.1238A>G (p.Glu413Gly) | |
X | g.108622811A>T | CA413853025 | COL4A5 | c.2903A>T (p.Glu968Val) n.2359A>T c.136A>T c.2579A>T (p.Glu860Val) c.476A>T (p.Glu159Val) c.2918A>T (p.Glu973Val) c.1238A>T (p.Glu413Val) | gnomAD v4 |
X | g.108622811_108622812insG | CA891843947 | COL4A5 | c.2903_2904insG (p.Pro969ThrfsTer?) n.2359_2360insG c.136_137insG c.2579_2580insG (p.Pro861ThrfsTer?) c.476_477insG (p.Pro160ThrfsTer?) c.2918_2919insG (p.Pro974ThrfsTer?) c.1238_1239insG (p.Pro414ThrfsTer?) | |
X | g.108622812A>C | CA413853030 | COL4A5 | c.2904A>C (p.Glu968Asp) n.2360A>C c.137A>C c.2580A>C (p.Glu860Asp) c.477A>C (p.Glu159Asp) c.2919A>C (p.Glu973Asp) c.1239A>C (p.Glu413Asp) | |
X | g.108622812A>G | CA517924841 | COL4A5 | c.2904A>G (p.Glu968=) n.2360A>G c.137A>G c.2580A>G (p.Glu860=) c.477A>G (p.Glu159=) c.2919A>G (p.Glu973=) c.1239A>G (p.Glu413=) | gnomAD v4 |
X | g.108622812A>T | CA413853027 | COL4A5 | c.2904A>T (p.Glu968Asp) n.2360A>T c.137A>T c.2580A>T (p.Glu860Asp) c.477A>T (p.Glu159Asp) c.2919A>T (p.Glu973Asp) c.1239A>T (p.Glu413Asp) | |
X | g.108622813C>A | CA413853032 | COL4A5 | c.2905C>A (p.Pro969Thr) n.2361C>A c.138C>A c.2581C>A (p.Pro861Thr) c.478C>A (p.Pro160Thr) c.2920C>A (p.Pro974Thr) c.1240C>A (p.Pro414Thr) | |
X | g.108622813C= | CA2450696893 | COL4A5 | c.2905C= (p.Pro969=) n.2361C= c.138C= c.2581C= (p.Pro861=) c.478C= (p.Pro160=) c.2920C= (p.Pro974=) c.1240C= (p.Pro414=) | |
X | g.108622813C>G | CA10488994 | COL4A5 | c.2905C>G (p.Pro969Ala) n.2361C>G c.138C>G c.2581C>G (p.Pro861Ala) c.478C>G (p.Pro160Ala) c.2920C>G (p.Pro974Ala) c.1240C>G (p.Pro414Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108622813C>T | CA413853035 | COL4A5 | c.2905C>T (p.Pro969Ser) n.2361C>T c.138C>T c.2581C>T (p.Pro861Ser) c.478C>T (p.Pro160Ser) c.2920C>T (p.Pro974Ser) c.1240C>T (p.Pro414Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108622814C>A | CA10488995 | COL4A5 | c.2906C>A (p.Pro969His) n.2362C>A c.139C>A c.2582C>A (p.Pro861His) c.479C>A (p.Pro160His) c.2921C>A (p.Pro974His) c.1241C>A (p.Pro414His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108622814C= | CA2450696894 | COL4A5 | c.2906C= (p.Pro969=) n.2362C= c.139C= c.2582C= (p.Pro861=) c.479C= (p.Pro160=) c.2921C= (p.Pro974=) c.1241C= (p.Pro414=) | |
X | g.108622814C>G | CA413853038 | COL4A5 | c.2906C>G (p.Pro969Arg) n.2362C>G c.139C>G c.2582C>G (p.Pro861Arg) c.479C>G (p.Pro160Arg) c.2921C>G (p.Pro974Arg) c.1241C>G (p.Pro414Arg) | |
X | g.108622814C>T | CA413853040 | COL4A5 | c.2906C>T (p.Pro969Leu) n.2362C>T c.139C>T c.2582C>T (p.Pro861Leu) c.479C>T (p.Pro160Leu) c.2921C>T (p.Pro974Leu) c.1241C>T (p.Pro414Leu) | |
X | g.108622815T>A | CA517924844 | COL4A5 | c.2907T>A (p.Pro969=) n.2363T>A c.140T>A c.2583T>A (p.Pro861=) c.480T>A (p.Pro160=) c.2922T>A (p.Pro974=) c.1242T>A (p.Pro414=) | |
X | g.108622815T>C | CA517924845 | COL4A5 | c.2907T>C (p.Pro969=) n.2363T>C c.140T>C c.2583T>C (p.Pro861=) c.480T>C (p.Pro160=) c.2922T>C (p.Pro974=) c.1242T>C (p.Pro414=) | |
X | g.108622815T>G | CA517924846 | COL4A5 | c.2907T>G (p.Pro969=) n.2363T>G c.140T>G c.2583T>G (p.Pro861=) c.480T>G (p.Pro160=) c.2922T>G (p.Pro974=) c.1242T>G (p.Pro414=) | |
X | g.108622816G>A | CA413853042 | COL4A5 | c.2908G>A (p.Gly970Ser) n.2364G>A c.141G>A c.2584G>A (p.Gly862Ser) c.481G>A (p.Gly161Ser) c.2923G>A (p.Gly975Ser) c.1243G>A (p.Gly415Ser) | ClinVar dbSNP gnomAD v4 |
X | g.108622816G>C | CA413853044 | COL4A5 | c.2908G>C (p.Gly970Arg) n.2364G>C c.141G>C c.2584G>C (p.Gly862Arg) c.481G>C (p.Gly161Arg) c.2923G>C (p.Gly975Arg) c.1243G>C (p.Gly415Arg) | |
X | g.108622816G>T | CA413853046 | COL4A5 | c.2908G>T (p.Gly970Cys) n.2364G>T c.141G>T c.2584G>T (p.Gly862Cys) c.481G>T (p.Gly161Cys) c.2923G>T (p.Gly975Cys) c.1243G>T (p.Gly415Cys) | |
X | g.108622817G>A | CA413853048 | COL4A5 | c.2909G>A (p.Gly970Asp) n.2365G>A c.142G>A c.2585G>A (p.Gly862Asp) c.482G>A (p.Gly161Asp) c.2924G>A (p.Gly975Asp) c.1244G>A (p.Gly415Asp) | |
X | g.108622817G>C | CA413853050 | COL4A5 | c.2909G>C (p.Gly970Ala) n.2365G>C c.142G>C c.2585G>C (p.Gly862Ala) c.482G>C (p.Gly161Ala) c.2924G>C (p.Gly975Ala) c.1244G>C (p.Gly415Ala) | |
X | g.108622817G>T | CA413853052 | COL4A5 | c.2909G>T (p.Gly970Val) n.2365G>T c.142G>T c.2585G>T (p.Gly862Val) c.482G>T (p.Gly161Val) c.2924G>T (p.Gly975Val) c.1244G>T (p.Gly415Val) | |
X | g.108622818C>A | CA517924850 | COL4A5 | c.2910C>A (p.Gly970=) n.2366C>A c.143C>A c.2586C>A (p.Gly862=) c.483C>A (p.Gly161=) c.2925C>A (p.Gly975=) c.1245C>A (p.Gly415=) | |
X | g.108622818C= | CA2450696895 | COL4A5 | c.2910C= (p.Gly970=) n.2366C= c.143C= c.2586C= (p.Gly862=) c.483C= (p.Gly161=) c.2925C= (p.Gly975=) c.1245C= (p.Gly415=) | |
X | g.108622818C>G | CA517924852 | COL4A5 | c.2910C>G (p.Gly970=) n.2366C>G c.143C>G c.2586C>G (p.Gly862=) c.483C>G (p.Gly161=) c.2925C>G (p.Gly975=) c.1245C>G (p.Gly415=) | dbSNP |
X | g.108622818C>T | CA517924849 | COL4A5 | c.2910C>T (p.Gly970=) n.2366C>T c.143C>T c.2586C>T (p.Gly862=) c.483C>T (p.Gly161=) c.2925C>T (p.Gly975=) c.1245C>T (p.Gly415=) | dbSNP |
X | g.108622818_108622820delinsA | CA2580100200 | COL4A5 | c.2910_2912delinsA (p.Leu971ThrfsTer?) n.2366_2368delinsA c.143_145delinsA c.2586_2588delinsA (p.Leu863ThrfsTer?) c.483_485delinsA (p.Leu162ThrfsTer?) c.2925_2927delinsA (p.Leu976ThrfsTer?) c.1245_1247delinsA (p.Leu416ThrfsTer?) | ClinVar |
X | g.108622819T>A | CA413853057 | COL4A5 | c.2911T>A (p.Leu971Ile) n.2367T>A c.144T>A c.2587T>A (p.Leu863Ile) c.484T>A (p.Leu162Ile) c.2926T>A (p.Leu976Ile) c.1246T>A (p.Leu416Ile) | |
X | g.108622819T>C | CA517924855 | COL4A5 | c.2911T>C (p.Leu971=) n.2367T>C c.144T>C c.2587T>C (p.Leu863=) c.484T>C (p.Leu162=) c.2926T>C (p.Leu976=) c.1246T>C (p.Leu416=) | gnomAD v4 |
X | g.108622819T>G | CA413853055 | COL4A5 | c.2911T>G (p.Leu971Val) n.2367T>G c.144T>G c.2587T>G (p.Leu863Val) c.484T>G (p.Leu162Val) c.2926T>G (p.Leu976Val) c.1246T>G (p.Leu416Val) | |
X | g.108622820T>A | CA413853058 | COL4A5 | c.2912T>A (p.Leu971Ter) n.2368T>A c.145T>A c.2588T>A (p.Leu863Ter) c.485T>A (p.Leu162Ter) c.2927T>A (p.Leu976Ter) c.1247T>A (p.Leu416Ter) | |
X | g.108622820T>C | CA413853060 | COL4A5 | c.2912T>C (p.Leu971Ser) n.2368T>C c.145T>C c.2588T>C (p.Leu863Ser) c.485T>C (p.Leu162Ser) c.2927T>C (p.Leu976Ser) c.1247T>C (p.Leu416Ser) | gnomAD v4 |
X | g.108622820T>G | CA413853062 | COL4A5 | c.2912T>G (p.Leu971Ter) n.2368T>G c.145T>G c.2588T>G (p.Leu863Ter) c.485T>G (p.Leu162Ter) c.2927T>G (p.Leu976Ter) c.1247T>G (p.Leu416Ter) | |
X | g.108622821A>C | CA413853063 | COL4A5 | c.2913A>C (p.Leu971Phe) n.2369A>C c.146A>C c.2589A>C (p.Leu863Phe) c.486A>C (p.Leu162Phe) c.2928A>C (p.Leu976Phe) c.1248A>C (p.Leu416Phe) | |
X | g.108622821A>G | CA517924856 | COL4A5 | c.2913A>G (p.Leu971=) n.2369A>G c.146A>G c.2589A>G (p.Leu863=) c.486A>G (p.Leu162=) c.2928A>G (p.Leu976=) c.1248A>G (p.Leu416=) | |
X | g.108622821A>T | CA413853065 | COL4A5 | c.2913A>T (p.Leu971Phe) n.2369A>T c.146A>T c.2589A>T (p.Leu863Phe) c.486A>T (p.Leu162Phe) c.2928A>T (p.Leu976Phe) c.1248A>T (p.Leu416Phe) | |
X | g.108622822C>A | CA413853071 | COL4A5 | c.2914C>A (p.Pro972Thr) n.2370C>A c.147C>A c.2590C>A (p.Pro864Thr) c.487C>A (p.Pro163Thr) c.2929C>A (p.Pro977Thr) c.1249C>A (p.Pro417Thr) | |
X | g.108622822C>G | CA413853069 | COL4A5 | c.2914C>G (p.Pro972Ala) n.2370C>G c.147C>G c.2590C>G (p.Pro864Ala) c.487C>G (p.Pro163Ala) c.2929C>G (p.Pro977Ala) c.1249C>G (p.Pro417Ala) | |
X | g.108622822C>T | CA413853068 | COL4A5 | c.2914C>T (p.Pro972Ser) n.2370C>T c.147C>T c.2590C>T (p.Pro864Ser) c.487C>T (p.Pro163Ser) c.2929C>T (p.Pro977Ser) c.1249C>T (p.Pro417Ser) | |
X | g.108622823del | CA2739290542 | COL4A5 | c.2915del (p.Pro972GlnfsTer24) n.2371del c.148del c.2591del (p.Pro864GlnfsTer24) c.488del (p.Pro163GlnfsTer24) c.2930del (p.Pro977GlnfsTer24) c.1250del (p.Pro417GlnfsTer24) | |
X | g.108622823C>A | CA413853073 | COL4A5 | c.2915C>A (p.Pro972Gln) n.2371C>A c.148C>A c.2591C>A (p.Pro864Gln) c.488C>A (p.Pro163Gln) c.2930C>A (p.Pro977Gln) c.1250C>A (p.Pro417Gln) | |
X | g.108622823C>G | CA413853075 | COL4A5 | c.2915C>G (p.Pro972Arg) n.2371C>G c.148C>G c.2591C>G (p.Pro864Arg) c.488C>G (p.Pro163Arg) c.2930C>G (p.Pro977Arg) c.1250C>G (p.Pro417Arg) | |
X | g.108622823C>T | CA413853077 | COL4A5 | c.2915C>T (p.Pro972Leu) n.2371C>T c.148C>T c.2591C>T (p.Pro864Leu) c.488C>T (p.Pro163Leu) c.2930C>T (p.Pro977Leu) c.1250C>T (p.Pro417Leu) | |
X | g.108622824A= | CA2450696896 | COL4A5 | c.2916A= (p.Pro972=) n.2372A= c.149A= c.2592A= (p.Pro864=) c.489A= (p.Pro163=) c.2931A= (p.Pro977=) c.1251A= (p.Pro417=) | |
X | g.108622824A>C | CA517924860 | COL4A5 | c.2916A>C (p.Pro972=) n.2372A>C c.149A>C c.2592A>C (p.Pro864=) c.489A>C (p.Pro163=) c.2931A>C (p.Pro977=) c.1251A>C (p.Pro417=) | |
X | g.108622824A>G | CA517924858 | COL4A5 | c.2916A>G (p.Pro972=) n.2372A>G c.149A>G c.2592A>G (p.Pro864=) c.489A>G (p.Pro163=) c.2931A>G (p.Pro977=) c.1251A>G (p.Pro417=) | ClinVar dbSNP |
X | g.108622824A>T | CA517924859 | COL4A5 | c.2916A>T (p.Pro972=) n.2372A>T c.149A>T c.2592A>T (p.Pro864=) c.489A>T (p.Pro163=) c.2931A>T (p.Pro977=) c.1251A>T (p.Pro417=) | |
X | g.108622825G>A | CA413853079 | COL4A5 | c.2917G>A (p.Gly973Ser) n.2373G>A c.150G>A c.2593G>A (p.Gly865Ser) c.490G>A (p.Gly164Ser) c.2932G>A (p.Gly978Ser) c.1252G>A (p.Gly418Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108622825G>C | CA413853080 | COL4A5 | c.2917G>C (p.Gly973Arg) n.2373G>C c.150G>C c.2593G>C (p.Gly865Arg) c.490G>C (p.Gly164Arg) c.2932G>C (p.Gly978Arg) c.1252G>C (p.Gly418Arg) | |
X | g.108622825G= | CA2450696897 | COL4A5 | c.2917G= (p.Gly973=) n.2373G= c.150G= c.2593G= (p.Gly865=) c.490G= (p.Gly164=) c.2932G= (p.Gly978=) c.1252G= (p.Gly418=) | |
X | g.108622825G>T | CA413853082 | COL4A5 | c.2917G>T (p.Gly973Cys) n.2373G>T c.150G>T c.2593G>T (p.Gly865Cys) c.490G>T (p.Gly164Cys) c.2932G>T (p.Gly978Cys) c.1252G>T (p.Gly418Cys) | |
X | g.108622826G>A | CA413853085 | COL4A5 | c.2917+1G>A (n.2917+1G>A) n.2373+1G>A c.150+1G>A c.2593+1G>A (n.2593+1G>A) c.490+1G>A (n.490+1G>A) c.2932+1G>A (n.2932+1G>A) c.1252+1G>A (n.1252+1G>A) | ClinVar dbSNP |
X | g.108622826G>C | CA258779 | COL4A5 | c.2917+1G>C (n.2917+1G>C) n.2373+1G>C c.150+1G>C c.2593+1G>C (n.2593+1G>C) c.490+1G>C (n.490+1G>C) c.2932+1G>C (n.2932+1G>C) c.1252+1G>C (n.1252+1G>C) | ClinVar dbSNP |
X | g.108622826G= | CA2450696898 | COL4A5 | c.2917+1G= (n.2917+1G=) n.2373+1G= c.150+1G= c.2593+1G= (n.2593+1G=) c.490+1G= (n.490+1G=) c.2932+1G= (n.2932+1G=) c.1252+1G= (n.1252+1G=) | |
X | g.108622826G>T | CA258780 | COL4A5 | c.2917+1G>T (n.2917+1G>T) n.2373+1G>T c.150+1G>T c.2593+1G>T (n.2593+1G>T) c.490+1G>T (n.490+1G>T) c.2932+1G>T (n.2932+1G>T) c.1252+1G>T (n.1252+1G>T) | dbSNP |
X | g.108622827T>A | CA413853089 | COL4A5 | c.2917+2T>A (n.2917+2T>A) n.2373+2T>A c.150+2T>A c.2593+2T>A (n.2593+2T>A) c.490+2T>A (n.490+2T>A) c.2932+2T>A (n.2932+2T>A) c.1252+2T>A (n.1252+2T>A) | ClinVar |
X | g.108622827T>C | CA413853091 | COL4A5 | c.2917+2T>C (n.2917+2T>C) n.2373+2T>C c.150+2T>C c.2593+2T>C (n.2593+2T>C) c.490+2T>C (n.490+2T>C) c.2932+2T>C (n.2932+2T>C) c.1252+2T>C (n.1252+2T>C) | |
X | g.108622827T>G | CA413853093 | COL4A5 | c.2917+2T>G (n.2917+2T>G) n.2373+2T>G c.150+2T>G c.2593+2T>G (n.2593+2T>G) c.490+2T>G (n.490+2T>G) c.2932+2T>G (n.2932+2T>G) c.1252+2T>G (n.1252+2T>G) |