Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108622707_108622759delCA2566557330COL4A5c.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?)
Xg.108622738_108622739delinsAACA645606859COL4A5c.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
Xg.108622739delCA891843946COL4A5c.2831del (p.Gly944GlufsTer?)
n.2287del
c.64del
c.2507del (p.Gly836GlufsTer?)
c.404del (p.Gly135GlufsTer?)
c.2846del (p.Gly949GlufsTer?)
c.1166del (p.Gly389GlufsTer?)
Xg.108622739G>ACA413852762COL4A5c.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)
Xg.108622739G>CCA413852763COL4A5c.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)
Xg.108622739G>TCA413852764COL4A5c.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)
Xg.108622742_108622743delCA2579676577COL4A5c.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?)
Xg.108622740A>CCA517924760COL4A5c.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=)
Xg.108622740A>GCA517924761COL4A5c.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=)
Xg.108622740A>TCA517924762COL4A5c.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=)
Xg.108622741G>ACA413852765COL4A5c.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)
Xg.108622741G>CCA413852766COL4A5c.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)
Xg.108622741G>TCA413852767COL4A5c.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
Xg.108622742A>CCA413852768COL4A5c.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)
Xg.108622742A>GCA413852769COL4A5c.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)
Xg.108622742A>TCA413852770COL4A5c.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)
Xg.108622743G>ACA517924763COL4A5c.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
Xg.108622743G>CCA413852771COL4A5c.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
Xg.108622743G=CA2450696871COL4A5c.2835G= (p.Glu945=)
n.2291G=
c.68G=
c.2511G= (p.Glu837=)
c.408G= (p.Glu136=)
c.2850G= (p.Glu950=)
c.1170G= (p.Glu390=)
Xg.108622743G>TCA10488989COL4A5c.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
Xg.108622743_108622744delCA2573332558COL4A5c.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?)
Xg.108622744C>ACA413852772COL4A5c.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)
Xg.108622744C=CA2450696872COL4A5c.2836C= (p.Pro946=)
n.2292C=
c.69C=
c.2512C= (p.Pro838=)
c.409C= (p.Pro137=)
c.2851C= (p.Pro951=)
c.1171C= (p.Pro391=)
Xg.108622744C>GCA10488990COL4A5c.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
Xg.108622744C>TCA413852773COL4A5c.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)
Xg.108622745C>ACA413852775COL4A5c.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)
Xg.108622745C>GCA413852776COL4A5c.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)
Xg.108622745C>TCA413852774COL4A5c.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)
Xg.108622746T>ACA517924764COL4A5c.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=)
Xg.108622746T>CCA517924765COL4A5c.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=)
Xg.108622746T>GCA517924766COL4A5c.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=)
Xg.108622747G>ACA413852777COL4A5c.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)
Xg.108622747G>CCA413852779COL4A5c.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)
Xg.108622747G>TCA413852778COL4A5c.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)
Xg.108622748G>ACA258774COL4A5c.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
Xg.108622748G>CCA413852781COL4A5c.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)
Xg.108622748G=CA2450696873COL4A5c.2840G= (p.Gly947=)
n.2296G=
c.73G=
c.2516G= (p.Gly839=)
c.413G= (p.Gly138=)
c.2855G= (p.Gly952=)
c.1175G= (p.Gly392=)
Xg.108622748G>TCA413852780COL4A5c.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)
Xg.108622749C>ACA517924767COL4A5c.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=)
Xg.108622749C>GCA517924768COL4A5c.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=)
Xg.108622749C>TCA517924769COL4A5c.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=)
Xg.108622750delCA2695235224COL4A5c.2842del (p.Leu948PhefsTer?)
n.2298del
c.75del
c.2518del (p.Leu840PhefsTer?)
c.415del (p.Leu139PhefsTer?)
c.2857del (p.Leu953PhefsTer?)
c.1177del (p.Leu393PhefsTer?)
Xg.108622750C>ACA413852782COL4A5c.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)
Xg.108622750C>GCA413852783COL4A5c.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)
Xg.108622750C>TCA413852784COL4A5c.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
Xg.108622751T>ACA413852785COL4A5c.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)
Xg.108622751T>CCA413852786COL4A5c.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)
Xg.108622751T>GCA413852787COL4A5c.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)
Xg.108622752T>ACA517924770COL4A5c.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=)
Xg.108622752T>CCA334050713COL4A5c.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
Xg.108622752T>GCA517924771COL4A5c.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=)
Xg.108622752T=CA2450696875COL4A5c.2844T= (p.Leu948=)
n.2300T=
c.77T=
c.2520T= (p.Leu840=)
c.417T= (p.Leu139=)
c.2859T= (p.Leu953=)
c.1179T= (p.Leu393=)
Xg.108622752_108622753delinsTCCA2450696874COL4A5c.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=)
Xg.108622753C>ACA413852788COL4A5c.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)
Xg.108622753C>GCA413852789COL4A5c.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)
Xg.108622753C>TCA413852790COL4A5c.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)
Xg.108622754delCA258776COL4A5c.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
Xg.108622754C>ACA413852793COL4A5c.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)
Xg.108622754C>GCA413852791COL4A5c.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)
Xg.108622754C>TCA413852792COL4A5c.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)
Xg.108622755A>CCA517924773COL4A5c.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=)
Xg.108622755A>GCA517924772COL4A5c.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=)
Xg.108622755A>TCA517924774COL4A5c.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=)
Xg.108622756G>ACA413852794COL4A5c.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)
Xg.108622756G>CCA413852795COL4A5c.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)
Xg.108622756G>TCA413852796COL4A5c.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)
Xg.108622757G>ACA413852797COL4A5c.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)
Xg.108622757G>CCA413852798COL4A5c.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
Xg.108622757G=CA2450696876COL4A5c.2849G= (p.Gly950=)
n.2305G=
c.82G=
c.2525G= (p.Gly842=)
c.422G= (p.Gly141=)
c.2864G= (p.Gly955=)
c.1184G= (p.Gly395=)
Xg.108622757G>TCA413852799COL4A5c.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)
Xg.108622758C>ACA517924775COL4A5c.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=)
Xg.108622758C=CA2450696877COL4A5c.2850C= (p.Gly950=)
n.2306C=
c.83C=
c.2526C= (p.Gly842=)
c.423C= (p.Gly141=)
c.2865C= (p.Gly955=)
c.1185C= (p.Gly395=)
Xg.108622758C>GCA517924776COL4A5c.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=)
Xg.108622758C>TCA517924777COL4A5c.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
Xg.108622759C>ACA413852800COL4A5c.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)
Xg.108622759C>GCA413852801COL4A5c.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)
Xg.108622759C>TCA413852802COL4A5c.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)
Xg.108622760C>ACA413852804COL4A5c.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)
Xg.108622760C>GCA413852805COL4A5c.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
Xg.108622760C>TCA413852803COL4A5c.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)
Xg.108622761T>ACA517924778COL4A5c.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=)
Xg.108622761T>CCA334050734COL4A5c.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
Xg.108622761T>GCA517924779COL4A5c.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=)
Xg.108622761T=CA2450696878COL4A5c.2853T= (p.Pro951=)
n.2309T=
c.86T=
c.2529T= (p.Pro843=)
c.426T= (p.Pro142=)
c.2868T= (p.Pro956=)
c.1188T= (p.Pro396=)
Xg.108622762C>ACA413852806COL4A5c.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)
Xg.108622762C=CA2450696879COL4A5c.2854C= (p.Pro952=)
n.2310C=
c.87C=
c.2530C= (p.Pro844=)
c.427C= (p.Pro143=)
c.2869C= (p.Pro957=)
c.1189C= (p.Pro397=)
Xg.108622762C>GCA413852807COL4A5c.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
Xg.108622762C>TCA413852808COL4A5c.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)
Xg.108622763C>ACA413852809COL4A5c.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)
Xg.108622763C>GCA413852810COL4A5c.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)
Xg.108622763C>TCA413852811COL4A5c.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
Xg.108622764delCA2499226321COL4A5c.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
Xg.108622764T>ACA517924780COL4A5c.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=)
Xg.108622764T>CCA517924781COL4A5c.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=)
Xg.108622764T>GCA517924782COL4A5c.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=)
Xg.108622765G>ACA413852813COL4A5c.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)
Xg.108622765G>CCA413852815COL4A5c.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)
Xg.108622765G>TCA413852818COL4A5c.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
Xg.108622766G>ACA413852821COL4A5c.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
Xg.108622766G>CCA413852823COL4A5c.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)
Xg.108622766G=CA2450696880COL4A5c.2858G= (p.Gly953=)
n.2314G=
c.91G=
c.2534G= (p.Gly845=)
c.431G= (p.Gly144=)
c.2873G= (p.Gly958=)
c.1193G= (p.Gly398=)
Xg.108622766G>TCA258777COL4A5c.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
Xg.108622767A>CCA517924783COL4A5c.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=)
Xg.108622767A>GCA517924784COL4A5c.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
Xg.108622767A>TCA517924785COL4A5c.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=)
Xg.108622768C>ACA413852830COL4A5c.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
Xg.108622768C=CA2450696881COL4A5c.2860C= (p.Pro954=)
n.2316C=
c.93C=
c.2536C= (p.Pro846=)
c.433C= (p.Pro145=)
c.2875C= (p.Pro959=)
c.1195C= (p.Pro399=)
Xg.108622768C>GCA413852826COL4A5c.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)
Xg.108622768C>TCA413852828COL4A5c.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)
Xg.108622769dupCA2695235225COL4A5c.2861dup (p.Met955AsnfsTer?)
n.2317dup
c.94dup
c.2537dup (p.Met847AsnfsTer?)
c.434dup (p.Met146AsnfsTer?)
c.2876dup (p.Met960AsnfsTer?)
c.1196dup (p.Met400AsnfsTer?)
Xg.108622769C>ACA413852832COL4A5c.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
Xg.108622769C>GCA413852834COL4A5c.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)
Xg.108622769C>TCA413852836COL4A5c.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)
Xg.108622770A>CCA517924788COL4A5c.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=)
Xg.108622770A>GCA517924787COL4A5c.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=)
Xg.108622770A>TCA517924786COL4A5c.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=)
Xg.108622771A>CCA413852838COL4A5c.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
Xg.108622771A>GCA413852840COL4A5c.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)
Xg.108622771A>TCA413852842COL4A5c.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)
Xg.108622772T>ACA413852844COL4A5c.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)
Xg.108622772T>CCA413852846COL4A5c.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
Xg.108622772T>GCA413852848COL4A5c.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)
Xg.108622772T=CA2450696882COL4A5c.2864T= (p.Met955=)
n.2320T=
c.97T=
c.2540T= (p.Met847=)
c.437T= (p.Met146=)
c.2879T= (p.Met960=)
c.1199T= (p.Met400=)
Xg.108622773G>ACA413852851COL4A5c.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
Xg.108622773G>CCA413852852COL4A5c.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)
Xg.108622773G=CA2450696883COL4A5c.2865G= (p.Met955=)
n.2321G=
c.98G=
c.2541G= (p.Met847=)
c.438G= (p.Met146=)
c.2880G= (p.Met960=)
c.1200G= (p.Met400=)
Xg.108622773G>TCA413852854COL4A5c.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)
Xg.108622774G>ACA413852858COL4A5c.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)
Xg.108622774G>CCA413852860COL4A5c.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)
Xg.108622774G>TCA413852857COL4A5c.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
Xg.108622775A>CCA413852863COL4A5c.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)
Xg.108622775A>GCA413852864COL4A5c.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)
Xg.108622775A>TCA413852865COL4A5c.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)
Xg.108622776T>ACA413852867COL4A5c.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)
Xg.108622776T>CCA517924789COL4A5c.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=)
Xg.108622776T>GCA413852869COL4A5c.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)
Xg.108622777C>ACA413852876COL4A5c.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)
Xg.108622777C>GCA413852874COL4A5c.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)
Xg.108622777C>TCA413852872COL4A5c.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)
Xg.108622778C>ACA413852878COL4A5c.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
Xg.108622778C=CA2450696884COL4A5c.2870C= (p.Pro957=)
n.2326C=
c.103C=
c.2546C= (p.Pro849=)
c.443C= (p.Pro148=)
c.2885C= (p.Pro962=)
c.1205C= (p.Pro402=)
Xg.108622778C>GCA413852880COL4A5c.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)
Xg.108622778C>TCA413852881COL4A5c.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)
Xg.108622779A>CCA517924790COL4A5c.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=)
Xg.108622779A>GCA517924791COL4A5c.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=)
Xg.108622779A>TCA517924792COL4A5c.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=)
Xg.108622780A>CCA413852884COL4A5c.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)
Xg.108622780A>GCA413852886COL4A5c.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)
Xg.108622780A>TCA413852888COL4A5c.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)
Xg.108622781A>CCA413852893COL4A5c.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)
Xg.108622781A>GCA413852890COL4A5c.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)
Xg.108622781A>TCA413852892COL4A5c.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)
Xg.108622781_108622784delinsATCTCA2450696885COL4A5c.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=)
Xg.108622782T>ACA413852896COL4A5c.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)
Xg.108622782T>CCA517924796COL4A5c.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=)
Xg.108622782T>GCA413852898COL4A5c.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)
Xg.108622785_108622787delCA2450696886COL4A5c.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
Xg.108622783C>ACA413852900COL4A5c.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)
Xg.108622783C>GCA413852902COL4A5c.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)
Xg.108622783C>TCA413852904COL4A5c.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)
Xg.108622784T>ACA413852906COL4A5c.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)
Xg.108622784T>CCA10488991COL4A5c.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
Xg.108622784T>GCA413852908COL4A5c.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)
Xg.108622784T=CA2450696887COL4A5c.2876T= (p.Leu959=)
n.2332T=
c.109T=
c.2552T= (p.Leu851=)
c.449T= (p.Leu150=)
c.2891T= (p.Leu964=)
c.1211T= (p.Leu404=)
Xg.108622785T>ACA517924797COL4A5c.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=)
Xg.108622785T>CCA517924799COL4A5c.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=)
Xg.108622785T>GCA517924800COL4A5c.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=)
Xg.108622786C>ACA413852911COL4A5c.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)
Xg.108622786C>GCA413852913COL4A5c.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)
Xg.108622786C>TCA517924801COL4A5c.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=)
Xg.108622787T>ACA413852915COL4A5c.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)
Xg.108622787T>CCA413852918COL4A5c.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)
Xg.108622787T>GCA413852920COL4A5c.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)
Xg.108622788G>ACA517924803COL4A5c.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=)
Xg.108622788G>CCA517924804COL4A5c.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=)
Xg.108622788G>TCA517924805COL4A5c.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=)
Xg.108622790delCA2695235226COL4A5c.2882del (p.Gly961AlafsTer?)
n.2338del
c.115del
c.2558del (p.Gly853AlafsTer?)
c.455del (p.Gly152AlafsTer?)
c.2897del (p.Gly966AlafsTer?)
c.1217del (p.Gly406AlafsTer?)
Xg.108622789G>ACA413852922COL4A5c.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)
Xg.108622789G>CCA413852926COL4A5c.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)
Xg.108622789G>TCA413852924COL4A5c.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)
Xg.108622790G>ACA413852928COL4A5c.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)
Xg.108622790G>CCA413852930COL4A5c.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)
Xg.108622790G=CA2450696888COL4A5c.2882G= (p.Gly961=)
n.2338G=
c.115G=
c.2558G= (p.Gly853=)
c.455G= (p.Gly152=)
c.2897G= (p.Gly966=)
c.1217G= (p.Gly406=)
Xg.108622790G>TCA10488992COL4A5c.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
Xg.108622791C>ACA517924811COL4A5c.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
Xg.108622791C>GCA517924809COL4A5c.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=)
Xg.108622791C>TCA517924807COL4A5c.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
Xg.108622792T>ACA413852933COL4A5c.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)
Xg.108622792T>CCA413852935COL4A5c.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)
Xg.108622792T>GCA413852937COL4A5c.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)
Xg.108622793C>ACA413852940COL4A5c.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)
Xg.108622793C>GCA413852942COL4A5c.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)
Xg.108622793C>TCA413852943COL4A5c.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)
Xg.108622794A=CA2450696889COL4A5c.2886A= (p.Ser962=)
n.2342A=
c.119A=
c.2562A= (p.Ser854=)
c.459A= (p.Ser153=)
c.2901A= (p.Ser967=)
c.1221A= (p.Ser407=)
Xg.108622794A>CCA517924812COL4A5c.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=)
Xg.108622794A>GCA10488993COL4A5c.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
Xg.108622794A>TCA517924813COL4A5c.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=)
Xg.108622797delCA2540697012COL4A5c.2889del (p.Gly964GlufsTer?)
n.2345del
c.122del
c.2565del (p.Gly856GlufsTer?)
c.462del (p.Gly155GlufsTer?)
c.2904del (p.Gly969GlufsTer?)
c.1224del (p.Gly409GlufsTer?)
 ClinVar
Xg.108622795A=CA2450696890COL4A5c.2887A= (p.Lys963=)
n.2343A=
c.120A=
c.2563A= (p.Lys855=)
c.460A= (p.Lys154=)
c.2902A= (p.Lys968=)
c.1222A= (p.Lys408=)
Xg.108622795A>CCA413852945COL4A5c.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)
Xg.108622795A>GCA413852946COL4A5c.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
Xg.108622795A>TCA413852948COL4A5c.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)
Xg.108622796A>CCA413852954COL4A5c.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
Xg.108622796A>GCA413852951COL4A5c.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)
Xg.108622796A>TCA413852952COL4A5c.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)
Xg.108622800_108622807dupCA916083992COL4A5c.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
Xg.108622797A>CCA413852957COL4A5c.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)
Xg.108622797A>GCA517924818COL4A5c.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=)
Xg.108622797A>TCA413852959COL4A5c.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)
Xg.108622798G>ACA413852961COL4A5c.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
Xg.108622798G>CCA413852963COL4A5c.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)
Xg.108622798G>TCA413852964COL4A5c.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)
Xg.108622799G>ACA413852966COL4A5c.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
Xg.108622799G>CCA413852968COL4A5c.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)
Xg.108622799G>TCA413852970COL4A5c.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)
Xg.108622800A>CCA517924820COL4A5c.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=)
Xg.108622800A>GCA517924821COL4A5c.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=)
Xg.108622800A>TCA517924822COL4A5c.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=)
Xg.108622801G>ACA413852972COL4A5c.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
Xg.108622801G>CCA413852974COL4A5c.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)
Xg.108622801G>TCA413852976COL4A5c.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)
Xg.108622802A>CCA413852982COL4A5c.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)
Xg.108622802A>GCA413852980COL4A5c.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)
Xg.108622802A>TCA413852978COL4A5c.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)
Xg.108622803G>ACA517924828COL4A5c.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
Xg.108622803G>CCA413852984COL4A5c.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)
Xg.108622803G>TCA413852986COL4A5c.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)
Xg.108622804A>CCA413852988COL4A5c.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)
Xg.108622804A>GCA413852991COL4A5c.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)
Xg.108622804A>TCA413852990COL4A5c.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)
Xg.108622805A>CCA413852994COL4A5c.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)
Xg.108622805A>GCA413852998COL4A5c.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)
Xg.108622805A>TCA413852996COL4A5c.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)
Xg.108622806G>ACA517924832COL4A5c.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
Xg.108622806G>CCA413853000COL4A5c.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)
Xg.108622806G>TCA413853002COL4A5c.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)
Xg.108622810dupCA2695235228COL4A5c.2902dup (p.Glu968GlyfsTer?)
n.2358dup
c.135dup
c.2578dup (p.Glu860GlyfsTer?)
c.475dup (p.Glu159GlyfsTer?)
c.2917dup (p.Glu973GlyfsTer?)
c.1237dup (p.Glu413GlyfsTer?)
 ClinVar
Xg.108622810delCA2573159093COL4A5c.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
Xg.108622808_108622817delCA2695235227COL4A5c.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)
Xg.108622807G>ACA413853004COL4A5c.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
Xg.108622807G>CCA413853006COL4A5c.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)
Xg.108622807G=CA2450696891COL4A5c.2899G= (p.Gly967=)
n.2355G=
c.132G=
c.2575G= (p.Gly859=)
c.472G= (p.Gly158=)
c.2914G= (p.Gly972=)
c.1234G= (p.Gly412=)
Xg.108622807G>TCA413853007COL4A5c.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)
Xg.108622808G>ACA413853010COL4A5c.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
Xg.108622808G>CCA413853012COL4A5c.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)
Xg.108622808G>TCA413853013COL4A5c.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)
Xg.108622809G>ACA517924835COL4A5c.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=)
Xg.108622809G>CCA517924837COL4A5c.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=)
Xg.108622809G>TCA517924839COL4A5c.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
Xg.108622810G>ACA413853016COL4A5c.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
Xg.108622810G>CCA413853018COL4A5c.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)
Xg.108622810G>TCA413853019COL4A5c.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)
Xg.108622811A=CA2450696892COL4A5c.2903A= (p.Glu968=)
n.2359A=
c.136A=
c.2579A= (p.Glu860=)
c.476A= (p.Glu159=)
c.2918A= (p.Glu973=)
c.1238A= (p.Glu413=)
Xg.108622811A>CCA413853022COL4A5c.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)
Xg.108622811A>GCA413853024COL4A5c.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)
Xg.108622811A>TCA413853025COL4A5c.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
Xg.108622811_108622812insGCA891843947COL4A5c.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?)
Xg.108622812A>CCA413853030COL4A5c.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)
Xg.108622812A>GCA517924841COL4A5c.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
Xg.108622812A>TCA413853027COL4A5c.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)
Xg.108622813C>ACA413853032COL4A5c.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)
Xg.108622813C=CA2450696893COL4A5c.2905C= (p.Pro969=)
n.2361C=
c.138C=
c.2581C= (p.Pro861=)
c.478C= (p.Pro160=)
c.2920C= (p.Pro974=)
c.1240C= (p.Pro414=)
Xg.108622813C>GCA10488994COL4A5c.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
Xg.108622813C>TCA413853035COL4A5c.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
Xg.108622814C>ACA10488995COL4A5c.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
Xg.108622814C=CA2450696894COL4A5c.2906C= (p.Pro969=)
n.2362C=
c.139C=
c.2582C= (p.Pro861=)
c.479C= (p.Pro160=)
c.2921C= (p.Pro974=)
c.1241C= (p.Pro414=)
Xg.108622814C>GCA413853038COL4A5c.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)
Xg.108622814C>TCA413853040COL4A5c.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)
Xg.108622815T>ACA517924844COL4A5c.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=)
Xg.108622815T>CCA517924845COL4A5c.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=)
Xg.108622815T>GCA517924846COL4A5c.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=)
Xg.108622816G>ACA413853042COL4A5c.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
Xg.108622816G>CCA413853044COL4A5c.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)
Xg.108622816G>TCA413853046COL4A5c.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)
Xg.108622817G>ACA413853048COL4A5c.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)
Xg.108622817G>CCA413853050COL4A5c.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)
Xg.108622817G>TCA413853052COL4A5c.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)
Xg.108622818C>ACA517924850COL4A5c.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=)
Xg.108622818C=CA2450696895COL4A5c.2910C= (p.Gly970=)
n.2366C=
c.143C=
c.2586C= (p.Gly862=)
c.483C= (p.Gly161=)
c.2925C= (p.Gly975=)
c.1245C= (p.Gly415=)
Xg.108622818C>GCA517924852COL4A5c.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
Xg.108622818C>TCA517924849COL4A5c.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
Xg.108622818_108622820delinsACA2580100200COL4A5c.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
Xg.108622819T>ACA413853057COL4A5c.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)
Xg.108622819T>CCA517924855COL4A5c.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
Xg.108622819T>GCA413853055COL4A5c.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)
Xg.108622820T>ACA413853058COL4A5c.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)
Xg.108622820T>CCA413853060COL4A5c.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
Xg.108622820T>GCA413853062COL4A5c.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)
Xg.108622821A>CCA413853063COL4A5c.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)
Xg.108622821A>GCA517924856COL4A5c.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=)
Xg.108622821A>TCA413853065COL4A5c.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)
Xg.108622822C>ACA413853071COL4A5c.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)
Xg.108622822C>GCA413853069COL4A5c.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)
Xg.108622822C>TCA413853068COL4A5c.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)
Xg.108622823delCA2739290542COL4A5c.2915del (p.Pro972GlnfsTer24)
n.2371del
c.148del
c.2591del (p.Pro864GlnfsTer24)
c.488del (p.Pro163GlnfsTer24)
c.2930del (p.Pro977GlnfsTer24)
c.1250del (p.Pro417GlnfsTer24)
Xg.108622823C>ACA413853073COL4A5c.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)
Xg.108622823C>GCA413853075COL4A5c.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)
Xg.108622823C>TCA413853077COL4A5c.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)
Xg.108622824A=CA2450696896COL4A5c.2916A= (p.Pro972=)
n.2372A=
c.149A=
c.2592A= (p.Pro864=)
c.489A= (p.Pro163=)
c.2931A= (p.Pro977=)
c.1251A= (p.Pro417=)
Xg.108622824A>CCA517924860COL4A5c.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=)
Xg.108622824A>GCA517924858COL4A5c.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
Xg.108622824A>TCA517924859COL4A5c.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=)
Xg.108622825G>ACA413853079COL4A5c.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
Xg.108622825G>CCA413853080COL4A5c.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)
Xg.108622825G=CA2450696897COL4A5c.2917G= (p.Gly973=)
n.2373G=
c.150G=
c.2593G= (p.Gly865=)
c.490G= (p.Gly164=)
c.2932G= (p.Gly978=)
c.1252G= (p.Gly418=)
Xg.108622825G>TCA413853082COL4A5c.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)
Xg.108622826G>ACA413853085COL4A5c.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
Xg.108622826G>CCA258779COL4A5c.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
Xg.108622826G=CA2450696898COL4A5c.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=)
Xg.108622826G>TCA258780COL4A5c.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
Xg.108622827T>ACA413853089COL4A5c.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
Xg.108622827T>CCA413853091COL4A5c.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)
Xg.108622827T>GCA413853093COL4A5c.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)
Xg.108622829A>GCA2694440254COL4A5c.2917+4A>G (n.2917+4A>G)
n.2373+4A>G
c.150+4A>G
c.2593+4A>G (n.2593+4A>G)
c.490+4A>G (n.490+4A>G)
c.2932+4A>G (n.2932+4A>G)
c.1252+4A>G (n.1252+4A>G)
 gnomAD v4
Xg.108622831T>GCA2694440255COL4A5c.2917+6T>G (n.2917+6T>G)
n.2373+6T>G
c.150+6T>G
c.2593+6T>G (n.2593+6T>G)
c.490+6T>G (n.490+6T>G)
c.2932+6T>G (n.2932+6T>G)
c.1252+6T>G (n.1252+6T>G)
 gnomAD v4
Xg.108622832G>ACA2694440256COL4A5c.2917+7G>A (n.2917+7G>A)
n.2373+7G>A
c.150+7G>A
c.2593+7G>A (n.2593+7G>A)
c.490+7G>A (n.490+7G>A)
c.2932+7G>A (n.2932+7G>A)
c.1252+7G>A (n.1252+7G>A)
 gnomAD v4
Xg.108622832G>TCA2564997578COL4A5c.2917+7G>T (n.2917+7G>T)
n.2373+7G>T
c.150+7G>T
c.2593+7G>T (n.2593+7G>T)
c.490+7G>T (n.490+7G>T)
c.2932+7G>T (n.2932+7G>T)
c.1252+7G>T (n.1252+7G>T)
Xg.108622833A>GCA2694440257COL4A5c.2917+8A>G (n.2917+8A>G)
n.2373+8A>G
c.150+8A>G
c.2593+8A>G (n.2593+8A>G)
c.490+8A>G (n.490+8A>G)
c.2932+8A>G (n.2932+8A>G)
c.1252+8A>G (n.1252+8A>G)
 gnomAD v4
Xg.108622839T>CCA2450696900COL4A5c.2917+14T>C (n.2917+14T>C)
n.2373+14T>C
c.150+14T>C
c.2593+14T>C (n.2593+14T>C)
c.490+14T>C (n.490+14T>C)
c.2932+14T>C (n.2932+14T>C)
c.1252+14T>C (n.1252+14T>C)
 dbSNP
Xg.108622839T=CA2450696899COL4A5c.2917+14T= (n.2917+14T=)
n.2373+14T=
c.150+14T=
c.2593+14T= (n.2593+14T=)
c.490+14T= (n.490+14T=)
c.2932+14T= (n.2932+14T=)
c.1252+14T= (n.1252+14T=)

Number of alleles fetched