Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23915358C>ACA402059218LAMA3c.2887C>A (p.Leu963Met)
c.7714C>A (p.Leu2572Met)
c.4309C>A (p.Leu1437Met)
c.7546C>A (p.Leu2516Met)
c.2492C>A
c.2719C>A (p.Leu907Met)
n.2292C>A
c.7741C>A (p.Leu2581Met)
c.7732C>A (p.Leu2578Met)
c.7723C>A (p.Leu2575Met)
c.7609C>A (p.Leu2537Met)
c.7444C>A (p.Leu2482Met)
c.5593C>A (p.Leu1865Met)
c.3283C>A (p.Leu1095Met)
n.7982C>A
 gnomAD v4
18g.23915358C>GCA402059216LAMA3c.2887C>G (p.Leu963Val)
c.7714C>G (p.Leu2572Val)
c.4309C>G (p.Leu1437Val)
c.7546C>G (p.Leu2516Val)
c.2492C>G
c.2719C>G (p.Leu907Val)
n.2292C>G
c.7741C>G (p.Leu2581Val)
c.7732C>G (p.Leu2578Val)
c.7723C>G (p.Leu2575Val)
c.7609C>G (p.Leu2537Val)
c.7444C>G (p.Leu2482Val)
c.5593C>G (p.Leu1865Val)
c.3283C>G (p.Leu1095Val)
n.7982C>G
18g.23915358C>TCA503339675LAMA3c.2887C>T (p.Leu963=)
c.7714C>T (p.Leu2572=)
c.4309C>T (p.Leu1437=)
c.7546C>T (p.Leu2516=)
c.2492C>T
c.2719C>T (p.Leu907=)
n.2292C>T
c.7741C>T (p.Leu2581=)
c.7732C>T (p.Leu2578=)
c.7723C>T (p.Leu2575=)
c.7609C>T (p.Leu2537=)
c.7444C>T (p.Leu2482=)
c.5593C>T (p.Leu1865=)
c.3283C>T (p.Leu1095=)
n.7982C>T
 ClinVar
18g.23915359T>ACA402059219LAMA3c.2888T>A (p.Leu963Gln)
c.7715T>A (p.Leu2572Gln)
c.4310T>A (p.Leu1437Gln)
c.7547T>A (p.Leu2516Gln)
c.2493T>A
c.2720T>A (p.Leu907Gln)
n.2293T>A
c.7742T>A (p.Leu2581Gln)
c.7733T>A (p.Leu2578Gln)
c.7724T>A (p.Leu2575Gln)
c.7610T>A (p.Leu2537Gln)
c.7445T>A (p.Leu2482Gln)
c.5594T>A (p.Leu1865Gln)
c.3284T>A (p.Leu1095Gln)
n.7983T>A
18g.23915359T>CCA402059221LAMA3c.2888T>C (p.Leu963Pro)
c.7715T>C (p.Leu2572Pro)
c.4310T>C (p.Leu1437Pro)
c.7547T>C (p.Leu2516Pro)
c.2493T>C
c.2720T>C (p.Leu907Pro)
n.2293T>C
c.7742T>C (p.Leu2581Pro)
c.7733T>C (p.Leu2578Pro)
c.7724T>C (p.Leu2575Pro)
c.7610T>C (p.Leu2537Pro)
c.7445T>C (p.Leu2482Pro)
c.5594T>C (p.Leu1865Pro)
c.3284T>C (p.Leu1095Pro)
n.7983T>C
18g.23915359T>GCA402059223LAMA3c.2888T>G (p.Leu963Arg)
c.7715T>G (p.Leu2572Arg)
c.4310T>G (p.Leu1437Arg)
c.7547T>G (p.Leu2516Arg)
c.2493T>G
c.2720T>G (p.Leu907Arg)
n.2293T>G
c.7742T>G (p.Leu2581Arg)
c.7733T>G (p.Leu2578Arg)
c.7724T>G (p.Leu2575Arg)
c.7610T>G (p.Leu2537Arg)
c.7445T>G (p.Leu2482Arg)
c.5594T>G (p.Leu1865Arg)
c.3284T>G (p.Leu1095Arg)
n.7983T>G
18g.23915360G>ACA503339677LAMA3c.2889G>A (p.Leu963=)
c.7716G>A (p.Leu2572=)
c.4311G>A (p.Leu1437=)
c.7548G>A (p.Leu2516=)
c.2494G>A
c.2721G>A (p.Leu907=)
n.2294G>A
c.7743G>A (p.Leu2581=)
c.7734G>A (p.Leu2578=)
c.7725G>A (p.Leu2575=)
c.7611G>A (p.Leu2537=)
c.7446G>A (p.Leu2482=)
c.5595G>A (p.Leu1865=)
c.3285G>A (p.Leu1095=)
n.7984G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23915360G>CCA503339678LAMA3c.2889G>C (p.Leu963=)
c.7716G>C (p.Leu2572=)
c.4311G>C (p.Leu1437=)
c.7548G>C (p.Leu2516=)
c.2494G>C
c.2721G>C (p.Leu907=)
n.2294G>C
c.7743G>C (p.Leu2581=)
c.7734G>C (p.Leu2578=)
c.7725G>C (p.Leu2575=)
c.7611G>C (p.Leu2537=)
c.7446G>C (p.Leu2482=)
c.5595G>C (p.Leu1865=)
c.3285G>C (p.Leu1095=)
n.7984G>C
18g.23915360G=CA2290328959LAMA3c.2889G= (p.Leu963=)
c.7716G= (p.Leu2572=)
c.4311G= (p.Leu1437=)
c.7548G= (p.Leu2516=)
c.2494G=
c.2721G= (p.Leu907=)
n.2294G=
c.7743G= (p.Leu2581=)
c.7734G= (p.Leu2578=)
c.7725G= (p.Leu2575=)
c.7611G= (p.Leu2537=)
c.7446G= (p.Leu2482=)
c.5595G= (p.Leu1865=)
c.3285G= (p.Leu1095=)
n.7984G=
18g.23915360G>TCA503339679LAMA3c.2889G>T (p.Leu963=)
c.7716G>T (p.Leu2572=)
c.4311G>T (p.Leu1437=)
c.7548G>T (p.Leu2516=)
c.2494G>T
c.2721G>T (p.Leu907=)
n.2294G>T
c.7743G>T (p.Leu2581=)
c.7734G>T (p.Leu2578=)
c.7725G>T (p.Leu2575=)
c.7611G>T (p.Leu2537=)
c.7446G>T (p.Leu2482=)
c.5595G>T (p.Leu1865=)
c.3285G>T (p.Leu1095=)
n.7984G>T
18g.23915361delCA2641297067LAMA3c.2890del (p.Ser964AlafsTer?)
c.7717del (p.Ser2573AlafsTer?)
c.4312del (p.Ser1438AlafsTer?)
c.7549del (p.Ser2517AlafsTer?)
c.2495del
c.2722del (p.Ser908AlafsTer?)
n.2295del
c.7744del (p.Ser2582AlafsTer?)
c.7735del (p.Ser2579AlafsTer?)
c.7726del (p.Ser2576AlafsTer?)
c.7612del (p.Ser2538AlafsTer?)
c.7447del (p.Ser2483AlafsTer?)
c.5596del (p.Ser1866AlafsTer?)
c.3286del (p.Ser1096AlafsTer?)
n.7985del
 gnomAD v4
18g.23915361A>CCA402059224LAMA3c.2890A>C (p.Ser964Arg)
c.7717A>C (p.Ser2573Arg)
c.4312A>C (p.Ser1438Arg)
c.7549A>C (p.Ser2517Arg)
c.2495A>C
c.2722A>C (p.Ser908Arg)
n.2295A>C
c.7744A>C (p.Ser2582Arg)
c.7735A>C (p.Ser2579Arg)
c.7726A>C (p.Ser2576Arg)
c.7612A>C (p.Ser2538Arg)
c.7447A>C (p.Ser2483Arg)
c.5596A>C (p.Ser1866Arg)
c.3286A>C (p.Ser1096Arg)
n.7985A>C
18g.23915361A>GCA402059225LAMA3c.2890A>G (p.Ser964Gly)
c.7717A>G (p.Ser2573Gly)
c.4312A>G (p.Ser1438Gly)
c.7549A>G (p.Ser2517Gly)
c.2495A>G
c.2722A>G (p.Ser908Gly)
n.2295A>G
c.7744A>G (p.Ser2582Gly)
c.7735A>G (p.Ser2579Gly)
c.7726A>G (p.Ser2576Gly)
c.7612A>G (p.Ser2538Gly)
c.7447A>G (p.Ser2483Gly)
c.5596A>G (p.Ser1866Gly)
c.3286A>G (p.Ser1096Gly)
n.7985A>G
18g.23915361A>TCA402059227LAMA3c.2890A>T (p.Ser964Cys)
c.7717A>T (p.Ser2573Cys)
c.4312A>T (p.Ser1438Cys)
c.7549A>T (p.Ser2517Cys)
c.2495A>T
c.2722A>T (p.Ser908Cys)
n.2295A>T
c.7744A>T (p.Ser2582Cys)
c.7735A>T (p.Ser2579Cys)
c.7726A>T (p.Ser2576Cys)
c.7612A>T (p.Ser2538Cys)
c.7447A>T (p.Ser2483Cys)
c.5596A>T (p.Ser1866Cys)
c.3286A>T (p.Ser1096Cys)
n.7985A>T
18g.23915362G>ACA402059228LAMA3c.2891G>A (p.Ser964Asn)
c.7718G>A (p.Ser2573Asn)
c.4313G>A (p.Ser1438Asn)
c.7550G>A (p.Ser2517Asn)
c.2496G>A
c.2723G>A (p.Ser908Asn)
n.2296G>A
c.7745G>A (p.Ser2582Asn)
c.7736G>A (p.Ser2579Asn)
c.7727G>A (p.Ser2576Asn)
c.7613G>A (p.Ser2538Asn)
c.7448G>A (p.Ser2483Asn)
c.5597G>A (p.Ser1866Asn)
c.3287G>A (p.Ser1096Asn)
n.7986G>A
18g.23915362G>CCA402059230LAMA3c.2891G>C (p.Ser964Thr)
c.7718G>C (p.Ser2573Thr)
c.4313G>C (p.Ser1438Thr)
c.7550G>C (p.Ser2517Thr)
c.2496G>C
c.2723G>C (p.Ser908Thr)
n.2296G>C
c.7745G>C (p.Ser2582Thr)
c.7736G>C (p.Ser2579Thr)
c.7727G>C (p.Ser2576Thr)
c.7613G>C (p.Ser2538Thr)
c.7448G>C (p.Ser2483Thr)
c.5597G>C (p.Ser1866Thr)
c.3287G>C (p.Ser1096Thr)
n.7986G>C
18g.23915362G>TCA402059231LAMA3c.2891G>T (p.Ser964Ile)
c.7718G>T (p.Ser2573Ile)
c.4313G>T (p.Ser1438Ile)
c.7550G>T (p.Ser2517Ile)
c.2496G>T
c.2723G>T (p.Ser908Ile)
n.2296G>T
c.7745G>T (p.Ser2582Ile)
c.7736G>T (p.Ser2579Ile)
c.7727G>T (p.Ser2576Ile)
c.7613G>T (p.Ser2538Ile)
c.7448G>T (p.Ser2483Ile)
c.5597G>T (p.Ser1866Ile)
c.3287G>T (p.Ser1096Ile)
n.7986G>T
18g.23915363C>ACA402059232LAMA3c.2892C>A (p.Ser964Arg)
c.7719C>A (p.Ser2573Arg)
c.4314C>A (p.Ser1438Arg)
c.7551C>A (p.Ser2517Arg)
c.2497C>A
c.2724C>A (p.Ser908Arg)
n.2297C>A
c.7746C>A (p.Ser2582Arg)
c.7737C>A (p.Ser2579Arg)
c.7728C>A (p.Ser2576Arg)
c.7614C>A (p.Ser2538Arg)
c.7449C>A (p.Ser2483Arg)
c.5598C>A (p.Ser1866Arg)
c.3288C>A (p.Ser1096Arg)
n.7987C>A
18g.23915363C>GCA402059234LAMA3c.2892C>G (p.Ser964Arg)
c.7719C>G (p.Ser2573Arg)
c.4314C>G (p.Ser1438Arg)
c.7551C>G (p.Ser2517Arg)
c.2497C>G
c.2724C>G (p.Ser908Arg)
n.2297C>G
c.7746C>G (p.Ser2582Arg)
c.7737C>G (p.Ser2579Arg)
c.7728C>G (p.Ser2576Arg)
c.7614C>G (p.Ser2538Arg)
c.7449C>G (p.Ser2483Arg)
c.5598C>G (p.Ser1866Arg)
c.3288C>G (p.Ser1096Arg)
n.7987C>G
18g.23915363C>TCA503339681LAMA3c.2892C>T (p.Ser964=)
c.7719C>T (p.Ser2573=)
c.4314C>T (p.Ser1438=)
c.7551C>T (p.Ser2517=)
c.2497C>T
c.2724C>T (p.Ser908=)
n.2297C>T
c.7746C>T (p.Ser2582=)
c.7737C>T (p.Ser2579=)
c.7728C>T (p.Ser2576=)
c.7614C>T (p.Ser2538=)
c.7449C>T (p.Ser2483=)
c.5598C>T (p.Ser1866=)
c.3288C>T (p.Ser1096=)
n.7987C>T
18g.23915364T>ACA402059236LAMA3c.2893T>A (p.Leu965Met)
c.7720T>A (p.Leu2574Met)
c.4315T>A (p.Leu1439Met)
c.7552T>A (p.Leu2518Met)
c.2498T>A
c.2725T>A (p.Leu909Met)
n.2298T>A
c.7747T>A (p.Leu2583Met)
c.7738T>A (p.Leu2580Met)
c.7729T>A (p.Leu2577Met)
c.7615T>A (p.Leu2539Met)
c.7450T>A (p.Leu2484Met)
c.5599T>A (p.Leu1867Met)
c.3289T>A (p.Leu1097Met)
n.7988T>A
18g.23915364T>CCA503339684LAMA3c.2893T>C (p.Leu965=)
c.7720T>C (p.Leu2574=)
c.4315T>C (p.Leu1439=)
c.7552T>C (p.Leu2518=)
c.2498T>C
c.2725T>C (p.Leu909=)
n.2298T>C
c.7747T>C (p.Leu2583=)
c.7738T>C (p.Leu2580=)
c.7729T>C (p.Leu2577=)
c.7615T>C (p.Leu2539=)
c.7450T>C (p.Leu2484=)
c.5599T>C (p.Leu1867=)
c.3289T>C (p.Leu1097=)
n.7988T>C
18g.23915364T>GCA402059237LAMA3c.2893T>G (p.Leu965Val)
c.7720T>G (p.Leu2574Val)
c.4315T>G (p.Leu1439Val)
c.7552T>G (p.Leu2518Val)
c.2498T>G
c.2725T>G (p.Leu909Val)
n.2298T>G
c.7747T>G (p.Leu2583Val)
c.7738T>G (p.Leu2580Val)
c.7729T>G (p.Leu2577Val)
c.7615T>G (p.Leu2539Val)
c.7450T>G (p.Leu2484Val)
c.5599T>G (p.Leu1867Val)
c.3289T>G (p.Leu1097Val)
n.7988T>G
18g.23915365T>ACA402059238LAMA3c.2894T>A (p.Leu965Ter)
c.7721T>A (p.Leu2574Ter)
c.4316T>A (p.Leu1439Ter)
c.7553T>A (p.Leu2518Ter)
c.2499T>A
c.2726T>A (p.Leu909Ter)
n.2299T>A
c.7748T>A (p.Leu2583Ter)
c.7739T>A (p.Leu2580Ter)
c.7730T>A (p.Leu2577Ter)
c.7616T>A (p.Leu2539Ter)
c.7451T>A (p.Leu2484Ter)
c.5600T>A (p.Leu1867Ter)
c.3290T>A (p.Leu1097Ter)
n.7989T>A
18g.23915365T>CCA8916727LAMA3c.2894T>C (p.Leu965Ser)
c.7721T>C (p.Leu2574Ser)
c.4316T>C (p.Leu1439Ser)
c.7553T>C (p.Leu2518Ser)
c.2499T>C
c.2726T>C (p.Leu909Ser)
n.2299T>C
c.7748T>C (p.Leu2583Ser)
c.7739T>C (p.Leu2580Ser)
c.7730T>C (p.Leu2577Ser)
c.7616T>C (p.Leu2539Ser)
c.7451T>C (p.Leu2484Ser)
c.5600T>C (p.Leu1867Ser)
c.3290T>C (p.Leu1097Ser)
n.7989T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915365T>GCA402059240LAMA3c.2894T>G (p.Leu965Trp)
c.7721T>G (p.Leu2574Trp)
c.4316T>G (p.Leu1439Trp)
c.7553T>G (p.Leu2518Trp)
c.2499T>G
c.2726T>G (p.Leu909Trp)
n.2299T>G
c.7748T>G (p.Leu2583Trp)
c.7739T>G (p.Leu2580Trp)
c.7730T>G (p.Leu2577Trp)
c.7616T>G (p.Leu2539Trp)
c.7451T>G (p.Leu2484Trp)
c.5600T>G (p.Leu1867Trp)
c.3290T>G (p.Leu1097Trp)
n.7989T>G
18g.23915365T=CA2290328961LAMA3c.2894T= (p.Leu965=)
c.7721T= (p.Leu2574=)
c.4316T= (p.Leu1439=)
c.7553T= (p.Leu2518=)
c.2499T=
c.2726T= (p.Leu909=)
n.2299T=
c.7748T= (p.Leu2583=)
c.7739T= (p.Leu2580=)
c.7730T= (p.Leu2577=)
c.7616T= (p.Leu2539=)
c.7451T= (p.Leu2484=)
c.5600T= (p.Leu1867=)
c.3290T= (p.Leu1097=)
n.7989T=
18g.23915366delCA2576473121LAMA3c.2895del (p.Leu965PhefsTer?)
c.7722del (p.Leu2574PhefsTer?)
c.4317del (p.Leu1439PhefsTer?)
c.7554del (p.Leu2518PhefsTer?)
c.2500del
c.2727del (p.Leu909PhefsTer?)
n.2300del
c.7749del (p.Leu2583PhefsTer?)
c.7740del (p.Leu2580PhefsTer?)
c.7731del (p.Leu2577PhefsTer?)
c.7617del (p.Leu2539PhefsTer?)
c.7452del (p.Leu2484PhefsTer?)
c.5601del (p.Leu1867PhefsTer?)
c.3291del (p.Leu1097PhefsTer?)
n.7990del
18g.23915366G>ACA503339685LAMA3c.2895G>A (p.Leu965=)
c.7722G>A (p.Leu2574=)
c.4317G>A (p.Leu1439=)
c.7554G>A (p.Leu2518=)
c.2500G>A
c.2727G>A (p.Leu909=)
n.2300G>A
c.7749G>A (p.Leu2583=)
c.7740G>A (p.Leu2580=)
c.7731G>A (p.Leu2577=)
c.7617G>A (p.Leu2539=)
c.7452G>A (p.Leu2484=)
c.5601G>A (p.Leu1867=)
c.3291G>A (p.Leu1097=)
n.7990G>A
 dbSNP
18g.23915366G>CCA402059242LAMA3c.2895G>C (p.Leu965Phe)
c.7722G>C (p.Leu2574Phe)
c.4317G>C (p.Leu1439Phe)
c.7554G>C (p.Leu2518Phe)
c.2500G>C
c.2727G>C (p.Leu909Phe)
n.2300G>C
c.7749G>C (p.Leu2583Phe)
c.7740G>C (p.Leu2580Phe)
c.7731G>C (p.Leu2577Phe)
c.7617G>C (p.Leu2539Phe)
c.7452G>C (p.Leu2484Phe)
c.5601G>C (p.Leu1867Phe)
c.3291G>C (p.Leu1097Phe)
n.7990G>C
18g.23915366G=CA2290328963LAMA3c.2895G= (p.Leu965=)
c.7722G= (p.Leu2574=)
c.4317G= (p.Leu1439=)
c.7554G= (p.Leu2518=)
c.2500G=
c.2727G= (p.Leu909=)
n.2300G=
c.7749G= (p.Leu2583=)
c.7740G= (p.Leu2580=)
c.7731G= (p.Leu2577=)
c.7617G= (p.Leu2539=)
c.7452G= (p.Leu2484=)
c.5601G= (p.Leu1867=)
c.3291G= (p.Leu1097=)
n.7990G=
18g.23915366G>TCA402059244LAMA3c.2895G>T (p.Leu965Phe)
c.7722G>T (p.Leu2574Phe)
c.4317G>T (p.Leu1439Phe)
c.7554G>T (p.Leu2518Phe)
c.2500G>T
c.2727G>T (p.Leu909Phe)
n.2300G>T
c.7749G>T (p.Leu2583Phe)
c.7740G>T (p.Leu2580Phe)
c.7731G>T (p.Leu2577Phe)
c.7617G>T (p.Leu2539Phe)
c.7452G>T (p.Leu2484Phe)
c.5601G>T (p.Leu1867Phe)
c.3291G>T (p.Leu1097Phe)
n.7990G>T
18g.23915367T>ACA402059245LAMA3c.2896T>A (p.Tyr966Asn)
c.7723T>A (p.Tyr2575Asn)
c.4318T>A (p.Tyr1440Asn)
c.7555T>A (p.Tyr2519Asn)
c.2501T>A
c.2728T>A (p.Tyr910Asn)
n.2301T>A
c.7750T>A (p.Tyr2584Asn)
c.7741T>A (p.Tyr2581Asn)
c.7732T>A (p.Tyr2578Asn)
c.7618T>A (p.Tyr2540Asn)
c.7453T>A (p.Tyr2485Asn)
c.5602T>A (p.Tyr1868Asn)
c.3292T>A (p.Tyr1098Asn)
n.7991T>A
18g.23915367T>CCA8916728LAMA3c.2896T>C (p.Tyr966His)
c.7723T>C (p.Tyr2575His)
c.4318T>C (p.Tyr1440His)
c.7555T>C (p.Tyr2519His)
c.2501T>C
c.2728T>C (p.Tyr910His)
n.2301T>C
c.7750T>C (p.Tyr2584His)
c.7741T>C (p.Tyr2581His)
c.7732T>C (p.Tyr2578His)
c.7618T>C (p.Tyr2540His)
c.7453T>C (p.Tyr2485His)
c.5602T>C (p.Tyr1868His)
c.3292T>C (p.Tyr1098His)
n.7991T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915367T>GCA402059246LAMA3c.2896T>G (p.Tyr966Asp)
c.7723T>G (p.Tyr2575Asp)
c.4318T>G (p.Tyr1440Asp)
c.7555T>G (p.Tyr2519Asp)
c.2501T>G
c.2728T>G (p.Tyr910Asp)
n.2301T>G
c.7750T>G (p.Tyr2584Asp)
c.7741T>G (p.Tyr2581Asp)
c.7732T>G (p.Tyr2578Asp)
c.7618T>G (p.Tyr2540Asp)
c.7453T>G (p.Tyr2485Asp)
c.5602T>G (p.Tyr1868Asp)
c.3292T>G (p.Tyr1098Asp)
n.7991T>G
18g.23915367T=CA2290328965LAMA3c.2896T= (p.Tyr966=)
c.7723T= (p.Tyr2575=)
c.4318T= (p.Tyr1440=)
c.7555T= (p.Tyr2519=)
c.2501T=
c.2728T= (p.Tyr910=)
n.2301T=
c.7750T= (p.Tyr2584=)
c.7741T= (p.Tyr2581=)
c.7732T= (p.Tyr2578=)
c.7618T= (p.Tyr2540=)
c.7453T= (p.Tyr2485=)
c.5602T= (p.Tyr1868=)
c.3292T= (p.Tyr1098=)
n.7991T=
18g.23915368A=CA2290328967LAMA3c.2897A= (p.Tyr966=)
c.7724A= (p.Tyr2575=)
c.4319A= (p.Tyr1440=)
c.7556A= (p.Tyr2519=)
c.2502A=
c.2729A= (p.Tyr910=)
n.2302A=
c.7751A= (p.Tyr2584=)
c.7742A= (p.Tyr2581=)
c.7733A= (p.Tyr2578=)
c.7619A= (p.Tyr2540=)
c.7454A= (p.Tyr2485=)
c.5603A= (p.Tyr1868=)
c.3293A= (p.Tyr1098=)
n.7992A=
18g.23915368A>CCA402059247LAMA3c.2897A>C (p.Tyr966Ser)
c.7724A>C (p.Tyr2575Ser)
c.4319A>C (p.Tyr1440Ser)
c.7556A>C (p.Tyr2519Ser)
c.2502A>C
c.2729A>C (p.Tyr910Ser)
n.2302A>C
c.7751A>C (p.Tyr2584Ser)
c.7742A>C (p.Tyr2581Ser)
c.7733A>C (p.Tyr2578Ser)
c.7619A>C (p.Tyr2540Ser)
c.7454A>C (p.Tyr2485Ser)
c.5603A>C (p.Tyr1868Ser)
c.3293A>C (p.Tyr1098Ser)
n.7992A>C
18g.23915368A>GCA8916729LAMA3c.2897A>G (p.Tyr966Cys)
c.7724A>G (p.Tyr2575Cys)
c.4319A>G (p.Tyr1440Cys)
c.7556A>G (p.Tyr2519Cys)
c.2502A>G
c.2729A>G (p.Tyr910Cys)
n.2302A>G
c.7751A>G (p.Tyr2584Cys)
c.7742A>G (p.Tyr2581Cys)
c.7733A>G (p.Tyr2578Cys)
c.7619A>G (p.Tyr2540Cys)
c.7454A>G (p.Tyr2485Cys)
c.5603A>G (p.Tyr1868Cys)
c.3293A>G (p.Tyr1098Cys)
n.7992A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915368A>TCA402059250LAMA3c.2897A>T (p.Tyr966Phe)
c.7724A>T (p.Tyr2575Phe)
c.4319A>T (p.Tyr1440Phe)
c.7556A>T (p.Tyr2519Phe)
c.2502A>T
c.2729A>T (p.Tyr910Phe)
n.2302A>T
c.7751A>T (p.Tyr2584Phe)
c.7742A>T (p.Tyr2581Phe)
c.7733A>T (p.Tyr2578Phe)
c.7619A>T (p.Tyr2540Phe)
c.7454A>T (p.Tyr2485Phe)
c.5603A>T (p.Tyr1868Phe)
c.3293A>T (p.Tyr1098Phe)
n.7992A>T
18g.23915368_23915369insAACA2576473122LAMA3c.2897_2898insAA (p.Tyr966Ter)
c.7724_7725insAA (p.Tyr2575Ter)
c.4319_4320insAA (p.Tyr1440Ter)
c.7556_7557insAA (p.Tyr2519Ter)
c.2502_2503insAA
c.2729_2730insAA (p.Tyr910Ter)
n.2302_2303insAA
c.7751_7752insAA (p.Tyr2584Ter)
c.7742_7743insAA (p.Tyr2581Ter)
c.7733_7734insAA (p.Tyr2578Ter)
c.7619_7620insAA (p.Tyr2540Ter)
c.7454_7455insAA (p.Tyr2485Ter)
c.5603_5604insAA (p.Tyr1868Ter)
c.3293_3294insAA (p.Tyr1098Ter)
n.7992_7993insAA
18g.23915369C>ACA8916730LAMA3c.2898C>A (p.Tyr966Ter)
c.7725C>A (p.Tyr2575Ter)
c.4320C>A (p.Tyr1440Ter)
c.7557C>A (p.Tyr2519Ter)
c.2503C>A
c.2730C>A (p.Tyr910Ter)
n.2303C>A
c.7752C>A (p.Tyr2584Ter)
c.7743C>A (p.Tyr2581Ter)
c.7734C>A (p.Tyr2578Ter)
c.7620C>A (p.Tyr2540Ter)
c.7455C>A (p.Tyr2485Ter)
c.5604C>A (p.Tyr1868Ter)
c.3294C>A (p.Tyr1098Ter)
n.7993C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915369C=CA2290328969LAMA3c.2898C= (p.Tyr966=)
c.7725C= (p.Tyr2575=)
c.4320C= (p.Tyr1440=)
c.7557C= (p.Tyr2519=)
c.2503C=
c.2730C= (p.Tyr910=)
n.2303C=
c.7752C= (p.Tyr2584=)
c.7743C= (p.Tyr2581=)
c.7734C= (p.Tyr2578=)
c.7620C= (p.Tyr2540=)
c.7455C= (p.Tyr2485=)
c.5604C= (p.Tyr1868=)
c.3294C= (p.Tyr1098=)
n.7993C=
18g.23915369C>GCA402059252LAMA3c.2898C>G (p.Tyr966Ter)
c.7725C>G (p.Tyr2575Ter)
c.4320C>G (p.Tyr1440Ter)
c.7557C>G (p.Tyr2519Ter)
c.2503C>G
c.2730C>G (p.Tyr910Ter)
n.2303C>G
c.7752C>G (p.Tyr2584Ter)
c.7743C>G (p.Tyr2581Ter)
c.7734C>G (p.Tyr2578Ter)
c.7620C>G (p.Tyr2540Ter)
c.7455C>G (p.Tyr2485Ter)
c.5604C>G (p.Tyr1868Ter)
c.3294C>G (p.Tyr1098Ter)
n.7993C>G
18g.23915369C>TCA503339686LAMA3c.2898C>T (p.Tyr966=)
c.7725C>T (p.Tyr2575=)
c.4320C>T (p.Tyr1440=)
c.7557C>T (p.Tyr2519=)
c.2503C>T
c.2730C>T (p.Tyr910=)
n.2303C>T
c.7752C>T (p.Tyr2584=)
c.7743C>T (p.Tyr2581=)
c.7734C>T (p.Tyr2578=)
c.7620C>T (p.Tyr2540=)
c.7455C>T (p.Tyr2485=)
c.5604C>T (p.Tyr1868=)
c.3294C>T (p.Tyr1098=)
n.7993C>T
 ClinVar dbSNP
18g.23915370A=CA2290328971LAMA3c.2899A= (p.Asn967=)
c.7726A= (p.Asn2576=)
c.4321A= (p.Asn1441=)
c.7558A= (p.Asn2520=)
c.2504A=
c.2731A= (p.Asn911=)
n.2304A=
c.7753A= (p.Asn2585=)
c.7744A= (p.Asn2582=)
c.7735A= (p.Asn2579=)
c.7621A= (p.Asn2541=)
c.7456A= (p.Asn2486=)
c.5605A= (p.Asn1869=)
c.3295A= (p.Asn1099=)
n.7994A=
18g.23915370A>CCA402059254LAMA3c.2899A>C (p.Asn967His)
c.7726A>C (p.Asn2576His)
c.4321A>C (p.Asn1441His)
c.7558A>C (p.Asn2520His)
c.2504A>C
c.2731A>C (p.Asn911His)
n.2304A>C
c.7753A>C (p.Asn2585His)
c.7744A>C (p.Asn2582His)
c.7735A>C (p.Asn2579His)
c.7621A>C (p.Asn2541His)
c.7456A>C (p.Asn2486His)
c.5605A>C (p.Asn1869His)
c.3295A>C (p.Asn1099His)
n.7994A>C
 dbSNP
18g.23915370A>GCA402059256LAMA3c.2899A>G (p.Asn967Asp)
c.7726A>G (p.Asn2576Asp)
c.4321A>G (p.Asn1441Asp)
c.7558A>G (p.Asn2520Asp)
c.2504A>G
c.2731A>G (p.Asn911Asp)
n.2304A>G
c.7753A>G (p.Asn2585Asp)
c.7744A>G (p.Asn2582Asp)
c.7735A>G (p.Asn2579Asp)
c.7621A>G (p.Asn2541Asp)
c.7456A>G (p.Asn2486Asp)
c.5605A>G (p.Asn1869Asp)
c.3295A>G (p.Asn1099Asp)
n.7994A>G
18g.23915370A>TCA402059257LAMA3c.2899A>T (p.Asn967Tyr)
c.7726A>T (p.Asn2576Tyr)
c.4321A>T (p.Asn1441Tyr)
c.7558A>T (p.Asn2520Tyr)
c.2504A>T
c.2731A>T (p.Asn911Tyr)
n.2304A>T
c.7753A>T (p.Asn2585Tyr)
c.7744A>T (p.Asn2582Tyr)
c.7735A>T (p.Asn2579Tyr)
c.7621A>T (p.Asn2541Tyr)
c.7456A>T (p.Asn2486Tyr)
c.5605A>T (p.Asn1869Tyr)
c.3295A>T (p.Asn1099Tyr)
n.7994A>T
18g.23915371A=CA2290328974LAMA3c.2900A= (p.Asn967=)
c.7727A= (p.Asn2576=)
c.4322A= (p.Asn1441=)
c.7559A= (p.Asn2520=)
c.2505A=
c.2732A= (p.Asn911=)
n.2305A=
c.7754A= (p.Asn2585=)
c.7745A= (p.Asn2582=)
c.7736A= (p.Asn2579=)
c.7622A= (p.Asn2541=)
c.7457A= (p.Asn2486=)
c.5606A= (p.Asn1869=)
c.3296A= (p.Asn1099=)
n.7995A=
18g.23915371A>CCA402059259LAMA3c.2900A>C (p.Asn967Thr)
c.7727A>C (p.Asn2576Thr)
c.4322A>C (p.Asn1441Thr)
c.7559A>C (p.Asn2520Thr)
c.2505A>C
c.2732A>C (p.Asn911Thr)
n.2305A>C
c.7754A>C (p.Asn2585Thr)
c.7745A>C (p.Asn2582Thr)
c.7736A>C (p.Asn2579Thr)
c.7622A>C (p.Asn2541Thr)
c.7457A>C (p.Asn2486Thr)
c.5606A>C (p.Asn1869Thr)
c.3296A>C (p.Asn1099Thr)
n.7995A>C
18g.23915371A>GCA8916731LAMA3c.2900A>G (p.Asn967Ser)
c.7727A>G (p.Asn2576Ser)
c.4322A>G (p.Asn1441Ser)
c.7559A>G (p.Asn2520Ser)
c.2505A>G
c.2732A>G (p.Asn911Ser)
n.2305A>G
c.7754A>G (p.Asn2585Ser)
c.7745A>G (p.Asn2582Ser)
c.7736A>G (p.Asn2579Ser)
c.7622A>G (p.Asn2541Ser)
c.7457A>G (p.Asn2486Ser)
c.5606A>G (p.Asn1869Ser)
c.3296A>G (p.Asn1099Ser)
n.7995A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915371A>TCA402059261LAMA3c.2900A>T (p.Asn967Ile)
c.7727A>T (p.Asn2576Ile)
c.4322A>T (p.Asn1441Ile)
c.7559A>T (p.Asn2520Ile)
c.2505A>T
c.2732A>T (p.Asn911Ile)
n.2305A>T
c.7754A>T (p.Asn2585Ile)
c.7745A>T (p.Asn2582Ile)
c.7736A>T (p.Asn2579Ile)
c.7622A>T (p.Asn2541Ile)
c.7457A>T (p.Asn2486Ile)
c.5606A>T (p.Asn1869Ile)
c.3296A>T (p.Asn1099Ile)
n.7995A>T
18g.23915372C>ACA402059263LAMA3c.2901C>A (p.Asn967Lys)
c.7728C>A (p.Asn2576Lys)
c.4323C>A (p.Asn1441Lys)
c.7560C>A (p.Asn2520Lys)
c.2506C>A
c.2733C>A (p.Asn911Lys)
n.2306C>A
c.7755C>A (p.Asn2585Lys)
c.7746C>A (p.Asn2582Lys)
c.7737C>A (p.Asn2579Lys)
c.7623C>A (p.Asn2541Lys)
c.7458C>A (p.Asn2486Lys)
c.5607C>A (p.Asn1869Lys)
c.3297C>A (p.Asn1099Lys)
n.7996C>A
 gnomAD v4
18g.23915372C>GCA402059264LAMA3c.2901C>G (p.Asn967Lys)
c.7728C>G (p.Asn2576Lys)
c.4323C>G (p.Asn1441Lys)
c.7560C>G (p.Asn2520Lys)
c.2506C>G
c.2733C>G (p.Asn911Lys)
n.2306C>G
c.7755C>G (p.Asn2585Lys)
c.7746C>G (p.Asn2582Lys)
c.7737C>G (p.Asn2579Lys)
c.7623C>G (p.Asn2541Lys)
c.7458C>G (p.Asn2486Lys)
c.5607C>G (p.Asn1869Lys)
c.3297C>G (p.Asn1099Lys)
n.7996C>G
18g.23915372C>TCA503339687LAMA3c.2901C>T (p.Asn967=)
c.7728C>T (p.Asn2576=)
c.4323C>T (p.Asn1441=)
c.7560C>T (p.Asn2520=)
c.2506C>T
c.2733C>T (p.Asn911=)
n.2306C>T
c.7755C>T (p.Asn2585=)
c.7746C>T (p.Asn2582=)
c.7737C>T (p.Asn2579=)
c.7623C>T (p.Asn2541=)
c.7458C>T (p.Asn2486=)
c.5607C>T (p.Asn1869=)
c.3297C>T (p.Asn1099=)
n.7996C>T
18g.23915373T>ACA402059266LAMA3c.2902T>A (p.Phe968Ile)
c.7729T>A (p.Phe2577Ile)
c.4324T>A (p.Phe1442Ile)
c.7561T>A (p.Phe2521Ile)
c.2507T>A
c.2734T>A (p.Phe912Ile)
n.2307T>A
c.7756T>A (p.Phe2586Ile)
c.7747T>A (p.Phe2583Ile)
c.7738T>A (p.Phe2580Ile)
c.7624T>A (p.Phe2542Ile)
c.7459T>A (p.Phe2487Ile)
c.5608T>A (p.Phe1870Ile)
c.3298T>A (p.Phe1100Ile)
n.7997T>A
 dbSNP gnomAD v3 gnomAD v4
18g.23915373T>CCA402059267LAMA3c.2902T>C (p.Phe968Leu)
c.7729T>C (p.Phe2577Leu)
c.4324T>C (p.Phe1442Leu)
c.7561T>C (p.Phe2521Leu)
c.2507T>C
c.2734T>C (p.Phe912Leu)
n.2307T>C
c.7756T>C (p.Phe2586Leu)
c.7747T>C (p.Phe2583Leu)
c.7738T>C (p.Phe2580Leu)
c.7624T>C (p.Phe2542Leu)
c.7459T>C (p.Phe2487Leu)
c.5608T>C (p.Phe1870Leu)
c.3298T>C (p.Phe1100Leu)
n.7997T>C
18g.23915373T>GCA402059268LAMA3c.2902T>G (p.Phe968Val)
c.7729T>G (p.Phe2577Val)
c.4324T>G (p.Phe1442Val)
c.7561T>G (p.Phe2521Val)
c.2507T>G
c.2734T>G (p.Phe912Val)
n.2307T>G
c.7756T>G (p.Phe2586Val)
c.7747T>G (p.Phe2583Val)
c.7738T>G (p.Phe2580Val)
c.7624T>G (p.Phe2542Val)
c.7459T>G (p.Phe2487Val)
c.5608T>G (p.Phe1870Val)
c.3298T>G (p.Phe1100Val)
n.7997T>G
18g.23915373T=CA2290328976LAMA3c.2902T= (p.Phe968=)
c.7729T= (p.Phe2577=)
c.4324T= (p.Phe1442=)
c.7561T= (p.Phe2521=)
c.2507T=
c.2734T= (p.Phe912=)
n.2307T=
c.7756T= (p.Phe2586=)
c.7747T= (p.Phe2583=)
c.7738T= (p.Phe2580=)
c.7624T= (p.Phe2542=)
c.7459T= (p.Phe2487=)
c.5608T= (p.Phe1870=)
c.3298T= (p.Phe1100=)
n.7997T=
18g.23915374T>ACA402059269LAMA3c.2903T>A (p.Phe968Tyr)
c.7730T>A (p.Phe2577Tyr)
c.4325T>A (p.Phe1442Tyr)
c.7562T>A (p.Phe2521Tyr)
c.2508T>A
c.2735T>A (p.Phe912Tyr)
n.2308T>A
c.7757T>A (p.Phe2586Tyr)
c.7748T>A (p.Phe2583Tyr)
c.7739T>A (p.Phe2580Tyr)
c.7625T>A (p.Phe2542Tyr)
c.7460T>A (p.Phe2487Tyr)
c.5609T>A (p.Phe1870Tyr)
c.3299T>A (p.Phe1100Tyr)
n.7998T>A
18g.23915374T>CCA402059270LAMA3c.2903T>C (p.Phe968Ser)
c.7730T>C (p.Phe2577Ser)
c.4325T>C (p.Phe1442Ser)
c.7562T>C (p.Phe2521Ser)
c.2508T>C
c.2735T>C (p.Phe912Ser)
n.2308T>C
c.7757T>C (p.Phe2586Ser)
c.7748T>C (p.Phe2583Ser)
c.7739T>C (p.Phe2580Ser)
c.7625T>C (p.Phe2542Ser)
c.7460T>C (p.Phe2487Ser)
c.5609T>C (p.Phe1870Ser)
c.3299T>C (p.Phe1100Ser)
n.7998T>C
 COSMIC COSMIC
18g.23915374T>GCA402059272LAMA3c.2903T>G (p.Phe968Cys)
c.7730T>G (p.Phe2577Cys)
c.4325T>G (p.Phe1442Cys)
c.7562T>G (p.Phe2521Cys)
c.2508T>G
c.2735T>G (p.Phe912Cys)
n.2308T>G
c.7757T>G (p.Phe2586Cys)
c.7748T>G (p.Phe2583Cys)
c.7739T>G (p.Phe2580Cys)
c.7625T>G (p.Phe2542Cys)
c.7460T>G (p.Phe2487Cys)
c.5609T>G (p.Phe1870Cys)
c.3299T>G (p.Phe1100Cys)
n.7998T>G
18g.23915375C>ACA402059274LAMA3c.2904C>A (p.Phe968Leu)
c.7731C>A (p.Phe2577Leu)
c.4326C>A (p.Phe1442Leu)
c.7563C>A (p.Phe2521Leu)
c.2509C>A
c.2736C>A (p.Phe912Leu)
n.2309C>A
c.7758C>A (p.Phe2586Leu)
c.7749C>A (p.Phe2583Leu)
c.7740C>A (p.Phe2580Leu)
c.7626C>A (p.Phe2542Leu)
c.7461C>A (p.Phe2487Leu)
c.5610C>A (p.Phe1870Leu)
c.3300C>A (p.Phe1100Leu)
n.7999C>A
18g.23915375C=CA2290328978LAMA3c.2904C= (p.Phe968=)
c.7731C= (p.Phe2577=)
c.4326C= (p.Phe1442=)
c.7563C= (p.Phe2521=)
c.2509C=
c.2736C= (p.Phe912=)
n.2309C=
c.7758C= (p.Phe2586=)
c.7749C= (p.Phe2583=)
c.7740C= (p.Phe2580=)
c.7626C= (p.Phe2542=)
c.7461C= (p.Phe2487=)
c.5610C= (p.Phe1870=)
c.3300C= (p.Phe1100=)
n.7999C=
18g.23915375C>GCA8916732LAMA3c.2904C>G (p.Phe968Leu)
c.7731C>G (p.Phe2577Leu)
c.4326C>G (p.Phe1442Leu)
c.7563C>G (p.Phe2521Leu)
c.2509C>G
c.2736C>G (p.Phe912Leu)
n.2309C>G
c.7758C>G (p.Phe2586Leu)
c.7749C>G (p.Phe2583Leu)
c.7740C>G (p.Phe2580Leu)
c.7626C>G (p.Phe2542Leu)
c.7461C>G (p.Phe2487Leu)
c.5610C>G (p.Phe1870Leu)
c.3300C>G (p.Phe1100Leu)
n.7999C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915375C>TCA503339690LAMA3c.2904C>T (p.Phe968=)
c.7731C>T (p.Phe2577=)
c.4326C>T (p.Phe1442=)
c.7563C>T (p.Phe2521=)
c.2509C>T
c.2736C>T (p.Phe912=)
n.2309C>T
c.7758C>T (p.Phe2586=)
c.7749C>T (p.Phe2583=)
c.7740C>T (p.Phe2580=)
c.7626C>T (p.Phe2542=)
c.7461C>T (p.Phe2487=)
c.5610C>T (p.Phe1870=)
c.3300C>T (p.Phe1100=)
n.7999C>T
 gnomAD v4
18g.23915376A>CCA402059276LAMA3c.2905A>C (p.Lys969Gln)
c.7732A>C (p.Lys2578Gln)
c.4327A>C (p.Lys1443Gln)
c.7564A>C (p.Lys2522Gln)
c.2510A>C
c.2737A>C (p.Lys913Gln)
n.2310A>C
c.7759A>C (p.Lys2587Gln)
c.7750A>C (p.Lys2584Gln)
c.7741A>C (p.Lys2581Gln)
c.7627A>C (p.Lys2543Gln)
c.7462A>C (p.Lys2488Gln)
c.5611A>C (p.Lys1871Gln)
c.3301A>C (p.Lys1101Gln)
n.8000A>C
18g.23915376A>GCA402059278LAMA3c.2905A>G (p.Lys969Glu)
c.7732A>G (p.Lys2578Glu)
c.4327A>G (p.Lys1443Glu)
c.7564A>G (p.Lys2522Glu)
c.2510A>G
c.2737A>G (p.Lys913Glu)
n.2310A>G
c.7759A>G (p.Lys2587Glu)
c.7750A>G (p.Lys2584Glu)
c.7741A>G (p.Lys2581Glu)
c.7627A>G (p.Lys2543Glu)
c.7462A>G (p.Lys2488Glu)
c.5611A>G (p.Lys1871Glu)
c.3301A>G (p.Lys1101Glu)
n.8000A>G
18g.23915376A>TCA402059279LAMA3c.2905A>T (p.Lys969Ter)
c.7732A>T (p.Lys2578Ter)
c.4327A>T (p.Lys1443Ter)
c.7564A>T (p.Lys2522Ter)
c.2510A>T
c.2737A>T (p.Lys913Ter)
n.2310A>T
c.7759A>T (p.Lys2587Ter)
c.7750A>T (p.Lys2584Ter)
c.7741A>T (p.Lys2581Ter)
c.7627A>T (p.Lys2543Ter)
c.7462A>T (p.Lys2488Ter)
c.5611A>T (p.Lys1871Ter)
c.3301A>T (p.Lys1101Ter)
n.8000A>T
18g.23915382dupCA645600358LAMA3c.2911dup (p.Thr971AsnfsTer8)
c.7738dup (p.Thr2580AsnfsTer8)
c.4333dup (p.Thr1445AsnfsTer8)
c.7570dup (p.Thr2524AsnfsTer8)
c.2516dup
c.2743dup (p.Thr915AsnfsTer8)
n.2316dup
c.7765dup (p.Thr2589AsnfsTer8)
c.7756dup (p.Thr2586AsnfsTer8)
c.7747dup (p.Thr2583AsnfsTer8)
c.7633dup (p.Thr2545AsnfsTer8)
c.7468dup (p.Thr2490AsnfsTer8)
c.5617dup (p.Thr1873AsnfsTer8)
c.3307dup (p.Thr1103AsnfsTer8)
n.8006dup
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
18g.23915382delCA645600359LAMA3c.2911del (p.Thr971HisfsTer?)
c.7738del (p.Thr2580HisfsTer?)
c.4333del (p.Thr1445HisfsTer?)
c.7570del (p.Thr2524HisfsTer?)
c.2516del
c.2743del (p.Thr915HisfsTer?)
n.2316del
c.7765del (p.Thr2589HisfsTer?)
c.7756del (p.Thr2586HisfsTer?)
c.7747del (p.Thr2583HisfsTer?)
c.7633del (p.Thr2545HisfsTer?)
c.7468del (p.Thr2490HisfsTer?)
c.5617del (p.Thr1873HisfsTer?)
c.3307del (p.Thr1103HisfsTer?)
n.8006del
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
18g.23915381_23915382delCA2695227281LAMA3c.2910_2911del (p.Lys970AsnfsTer8)
c.7737_7738del (p.Lys2579AsnfsTer8)
c.4332_4333del (p.Lys1444AsnfsTer8)
c.7569_7570del (p.Lys2523AsnfsTer8)
c.2515_2516del
c.2742_2743del (p.Lys914AsnfsTer8)
n.2315_2316del
c.7764_7765del (p.Lys2588AsnfsTer8)
c.7755_7756del (p.Lys2585AsnfsTer8)
c.7746_7747del (p.Lys2582AsnfsTer8)
c.7632_7633del (p.Lys2544AsnfsTer8)
c.7467_7468del (p.Lys2489AsnfsTer8)
c.5616_5617del (p.Lys1872AsnfsTer8)
c.3306_3307del (p.Lys1102AsnfsTer8)
n.8005_8006del
18g.23915377A>CCA402059283LAMA3c.2906A>C (p.Lys969Thr)
c.7733A>C (p.Lys2578Thr)
c.4328A>C (p.Lys1443Thr)
c.7565A>C (p.Lys2522Thr)
c.2511A>C
c.2738A>C (p.Lys913Thr)
n.2311A>C
c.7760A>C (p.Lys2587Thr)
c.7751A>C (p.Lys2584Thr)
c.7742A>C (p.Lys2581Thr)
c.7628A>C (p.Lys2543Thr)
c.7463A>C (p.Lys2488Thr)
c.5612A>C (p.Lys1871Thr)
c.3302A>C (p.Lys1101Thr)
n.8001A>C
18g.23915377A>GCA402059282LAMA3c.2906A>G (p.Lys969Arg)
c.7733A>G (p.Lys2578Arg)
c.4328A>G (p.Lys1443Arg)
c.7565A>G (p.Lys2522Arg)
c.2511A>G
c.2738A>G (p.Lys913Arg)
n.2311A>G
c.7760A>G (p.Lys2587Arg)
c.7751A>G (p.Lys2584Arg)
c.7742A>G (p.Lys2581Arg)
c.7628A>G (p.Lys2543Arg)
c.7463A>G (p.Lys2488Arg)
c.5612A>G (p.Lys1871Arg)
c.3302A>G (p.Lys1101Arg)
n.8001A>G
18g.23915377A>TCA402059280LAMA3c.2906A>T (p.Lys969Ile)
c.7733A>T (p.Lys2578Ile)
c.4328A>T (p.Lys1443Ile)
c.7565A>T (p.Lys2522Ile)
c.2511A>T
c.2738A>T (p.Lys913Ile)
n.2311A>T
c.7760A>T (p.Lys2587Ile)
c.7751A>T (p.Lys2584Ile)
c.7742A>T (p.Lys2581Ile)
c.7628A>T (p.Lys2543Ile)
c.7463A>T (p.Lys2488Ile)
c.5612A>T (p.Lys1871Ile)
c.3302A>T (p.Lys1101Ile)
n.8001A>T
18g.23915378A>CCA402059285LAMA3c.2907A>C (p.Lys969Asn)
c.7734A>C (p.Lys2578Asn)
c.4329A>C (p.Lys1443Asn)
c.7566A>C (p.Lys2522Asn)
c.2512A>C
c.2739A>C (p.Lys913Asn)
n.2312A>C
c.7761A>C (p.Lys2587Asn)
c.7752A>C (p.Lys2584Asn)
c.7743A>C (p.Lys2581Asn)
c.7629A>C (p.Lys2543Asn)
c.7464A>C (p.Lys2488Asn)
c.5613A>C (p.Lys1871Asn)
c.3303A>C (p.Lys1101Asn)
n.8002A>C
18g.23915378A>GCA503339694LAMA3c.2907A>G (p.Lys969=)
c.7734A>G (p.Lys2578=)
c.4329A>G (p.Lys1443=)
c.7566A>G (p.Lys2522=)
c.2512A>G
c.2739A>G (p.Lys913=)
n.2312A>G
c.7761A>G (p.Lys2587=)
c.7752A>G (p.Lys2584=)
c.7743A>G (p.Lys2581=)
c.7629A>G (p.Lys2543=)
c.7464A>G (p.Lys2488=)
c.5613A>G (p.Lys1871=)
c.3303A>G (p.Lys1101=)
n.8002A>G
18g.23915378A>TCA402059287LAMA3c.2907A>T (p.Lys969Asn)
c.7734A>T (p.Lys2578Asn)
c.4329A>T (p.Lys1443Asn)
c.7566A>T (p.Lys2522Asn)
c.2512A>T
c.2739A>T (p.Lys913Asn)
n.2312A>T
c.7761A>T (p.Lys2587Asn)
c.7752A>T (p.Lys2584Asn)
c.7743A>T (p.Lys2581Asn)
c.7629A>T (p.Lys2543Asn)
c.7464A>T (p.Lys2488Asn)
c.5613A>T (p.Lys1871Asn)
c.3303A>T (p.Lys1101Asn)
n.8002A>T
18g.23915379A>CCA402059289LAMA3c.2908A>C (p.Lys970Gln)
c.7735A>C (p.Lys2579Gln)
c.4330A>C (p.Lys1444Gln)
c.7567A>C (p.Lys2523Gln)
c.2513A>C
c.2740A>C (p.Lys914Gln)
n.2313A>C
c.7762A>C (p.Lys2588Gln)
c.7753A>C (p.Lys2585Gln)
c.7744A>C (p.Lys2582Gln)
c.7630A>C (p.Lys2544Gln)
c.7465A>C (p.Lys2489Gln)
c.5614A>C (p.Lys1872Gln)
c.3304A>C (p.Lys1102Gln)
n.8003A>C
18g.23915379A>GCA402059290LAMA3c.2908A>G (p.Lys970Glu)
c.7735A>G (p.Lys2579Glu)
c.4330A>G (p.Lys1444Glu)
c.7567A>G (p.Lys2523Glu)
c.2513A>G
c.2740A>G (p.Lys914Glu)
n.2313A>G
c.7762A>G (p.Lys2588Glu)
c.7753A>G (p.Lys2585Glu)
c.7744A>G (p.Lys2582Glu)
c.7630A>G (p.Lys2544Glu)
c.7465A>G (p.Lys2489Glu)
c.5614A>G (p.Lys1872Glu)
c.3304A>G (p.Lys1102Glu)
n.8003A>G
18g.23915379A>TCA402059292LAMA3c.2908A>T (p.Lys970Ter)
c.7735A>T (p.Lys2579Ter)
c.4330A>T (p.Lys1444Ter)
c.7567A>T (p.Lys2523Ter)
c.2513A>T
c.2740A>T (p.Lys914Ter)
n.2313A>T
c.7762A>T (p.Lys2588Ter)
c.7753A>T (p.Lys2585Ter)
c.7744A>T (p.Lys2582Ter)
c.7630A>T (p.Lys2544Ter)
c.7465A>T (p.Lys2489Ter)
c.5614A>T (p.Lys1872Ter)
c.3304A>T (p.Lys1102Ter)
n.8003A>T
18g.23915380A>CCA402059294LAMA3c.2909A>C (p.Lys970Thr)
c.7736A>C (p.Lys2579Thr)
c.4331A>C (p.Lys1444Thr)
c.7568A>C (p.Lys2523Thr)
c.2514A>C
c.2741A>C (p.Lys914Thr)
n.2314A>C
c.7763A>C (p.Lys2588Thr)
c.7754A>C (p.Lys2585Thr)
c.7745A>C (p.Lys2582Thr)
c.7631A>C (p.Lys2544Thr)
c.7466A>C (p.Lys2489Thr)
c.5615A>C (p.Lys1872Thr)
c.3305A>C (p.Lys1102Thr)
n.8004A>C
18g.23915380A>GCA402059295LAMA3c.2909A>G (p.Lys970Arg)
c.7736A>G (p.Lys2579Arg)
c.4331A>G (p.Lys1444Arg)
c.7568A>G (p.Lys2523Arg)
c.2514A>G
c.2741A>G (p.Lys914Arg)
n.2314A>G
c.7763A>G (p.Lys2588Arg)
c.7754A>G (p.Lys2585Arg)
c.7745A>G (p.Lys2582Arg)
c.7631A>G (p.Lys2544Arg)
c.7466A>G (p.Lys2489Arg)
c.5615A>G (p.Lys1872Arg)
c.3305A>G (p.Lys1102Arg)
n.8004A>G
18g.23915380A>TCA402059297LAMA3c.2909A>T (p.Lys970Ile)
c.7736A>T (p.Lys2579Ile)
c.4331A>T (p.Lys1444Ile)
c.7568A>T (p.Lys2523Ile)
c.2514A>T
c.2741A>T (p.Lys914Ile)
n.2314A>T
c.7763A>T (p.Lys2588Ile)
c.7754A>T (p.Lys2585Ile)
c.7745A>T (p.Lys2582Ile)
c.7631A>T (p.Lys2544Ile)
c.7466A>T (p.Lys2489Ile)
c.5615A>T (p.Lys1872Ile)
c.3305A>T (p.Lys1102Ile)
n.8004A>T
 COSMIC COSMIC
18g.23915383_23915384insCCCCCAAACCA2811822937LAMA3c.2912_2913insCCCCCAAAC (p.Thr971_Phe972insProGlnThr)
c.7739_7740insCCCCCAAAC (p.Thr2580_Phe2581insProGlnThr)
c.4334_4335insCCCCCAAAC (p.Thr1445_Phe1446insProGlnThr)
c.7571_7572insCCCCCAAAC (p.Thr2524_Phe2525insProGlnThr)
c.2517_2518insCCCCCAAAC
c.2744_2745insCCCCCAAAC (p.Thr915_Phe916insProGlnThr)
n.2317_2318insCCCCCAAAC
c.7766_7767insCCCCCAAAC (p.Thr2589_Phe2590insProGlnThr)
c.7757_7758insCCCCCAAAC (p.Thr2586_Phe2587insProGlnThr)
c.7748_7749insCCCCCAAAC (p.Thr2583_Phe2584insProGlnThr)
c.7634_7635insCCCCCAAAC (p.Thr2545_Phe2546insProGlnThr)
c.7469_7470insCCCCCAAAC (p.Thr2490_Phe2491insProGlnThr)
c.5618_5619insCCCCCAAAC (p.Thr1873_Phe1874insProGlnThr)
c.3308_3309insCCCCCAAAC (p.Thr1103_Phe1104insProGlnThr)
n.8007_8008insCCCCCAAAC
18g.23915381A=CA2290328980LAMA3c.2910A= (p.Lys970=)
c.7737A= (p.Lys2579=)
c.4332A= (p.Lys1444=)
c.7569A= (p.Lys2523=)
c.2515A=
c.2742A= (p.Lys914=)
n.2315A=
c.7764A= (p.Lys2588=)
c.7755A= (p.Lys2585=)
c.7746A= (p.Lys2582=)
c.7632A= (p.Lys2544=)
c.7467A= (p.Lys2489=)
c.5616A= (p.Lys1872=)
c.3306A= (p.Lys1102=)
n.8005A=
18g.23915381A>CCA8916733LAMA3c.2910A>C (p.Lys970Asn)
c.7737A>C (p.Lys2579Asn)
c.4332A>C (p.Lys1444Asn)
c.7569A>C (p.Lys2523Asn)
c.2515A>C
c.2742A>C (p.Lys914Asn)
n.2315A>C
c.7764A>C (p.Lys2588Asn)
c.7755A>C (p.Lys2585Asn)
c.7746A>C (p.Lys2582Asn)
c.7632A>C (p.Lys2544Asn)
c.7467A>C (p.Lys2489Asn)
c.5616A>C (p.Lys1872Asn)
c.3306A>C (p.Lys1102Asn)
n.8005A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915381A>GCA503339695LAMA3c.2910A>G (p.Lys970=)
c.7737A>G (p.Lys2579=)
c.4332A>G (p.Lys1444=)
c.7569A>G (p.Lys2523=)
c.2515A>G
c.2742A>G (p.Lys914=)
n.2315A>G
c.7764A>G (p.Lys2588=)
c.7755A>G (p.Lys2585=)
c.7746A>G (p.Lys2582=)
c.7632A>G (p.Lys2544=)
c.7467A>G (p.Lys2489=)
c.5616A>G (p.Lys1872=)
c.3306A>G (p.Lys1102=)
n.8005A>G
18g.23915381A>TCA402059299LAMA3c.2910A>T (p.Lys970Asn)
c.7737A>T (p.Lys2579Asn)
c.4332A>T (p.Lys1444Asn)
c.7569A>T (p.Lys2523Asn)
c.2515A>T
c.2742A>T (p.Lys914Asn)
n.2315A>T
c.7764A>T (p.Lys2588Asn)
c.7755A>T (p.Lys2585Asn)
c.7746A>T (p.Lys2582Asn)
c.7632A>T (p.Lys2544Asn)
c.7467A>T (p.Lys2489Asn)
c.5616A>T (p.Lys1872Asn)
c.3306A>T (p.Lys1102Asn)
n.8005A>T
18g.23915382A>CCA402059300LAMA3c.2911A>C (p.Thr971Pro)
c.7738A>C (p.Thr2580Pro)
c.4333A>C (p.Thr1445Pro)
c.7570A>C (p.Thr2524Pro)
c.2516A>C
c.2743A>C (p.Thr915Pro)
n.2316A>C
c.7765A>C (p.Thr2589Pro)
c.7756A>C (p.Thr2586Pro)
c.7747A>C (p.Thr2583Pro)
c.7633A>C (p.Thr2545Pro)
c.7468A>C (p.Thr2490Pro)
c.5617A>C (p.Thr1873Pro)
c.3307A>C (p.Thr1103Pro)
n.8006A>C
18g.23915382A>GCA402059301LAMA3c.2911A>G (p.Thr971Ala)
c.7738A>G (p.Thr2580Ala)
c.4333A>G (p.Thr1445Ala)
c.7570A>G (p.Thr2524Ala)
c.2516A>G
c.2743A>G (p.Thr915Ala)
n.2316A>G
c.7765A>G (p.Thr2589Ala)
c.7756A>G (p.Thr2586Ala)
c.7747A>G (p.Thr2583Ala)
c.7633A>G (p.Thr2545Ala)
c.7468A>G (p.Thr2490Ala)
c.5617A>G (p.Thr1873Ala)
c.3307A>G (p.Thr1103Ala)
n.8006A>G
 gnomAD v4
18g.23915382A>TCA402059302LAMA3c.2911A>T (p.Thr971Ser)
c.7738A>T (p.Thr2580Ser)
c.4333A>T (p.Thr1445Ser)
c.7570A>T (p.Thr2524Ser)
c.2516A>T
c.2743A>T (p.Thr915Ser)
n.2316A>T
c.7765A>T (p.Thr2589Ser)
c.7756A>T (p.Thr2586Ser)
c.7747A>T (p.Thr2583Ser)
c.7633A>T (p.Thr2545Ser)
c.7468A>T (p.Thr2490Ser)
c.5617A>T (p.Thr1873Ser)
c.3307A>T (p.Thr1103Ser)
n.8006A>T
18g.23915383C>ACA8916734LAMA3c.2912C>A (p.Thr971Lys)
c.7739C>A (p.Thr2580Lys)
c.4334C>A (p.Thr1445Lys)
c.7571C>A (p.Thr2524Lys)
c.2517C>A
c.2744C>A (p.Thr915Lys)
n.2317C>A
c.7766C>A (p.Thr2589Lys)
c.7757C>A (p.Thr2586Lys)
c.7748C>A (p.Thr2583Lys)
c.7634C>A (p.Thr2545Lys)
c.7469C>A (p.Thr2490Lys)
c.5618C>A (p.Thr1873Lys)
c.3308C>A (p.Thr1103Lys)
n.8007C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915383C=CA2290328983LAMA3c.2912C= (p.Thr971=)
c.7739C= (p.Thr2580=)
c.4334C= (p.Thr1445=)
c.7571C= (p.Thr2524=)
c.2517C=
c.2744C= (p.Thr915=)
n.2317C=
c.7766C= (p.Thr2589=)
c.7757C= (p.Thr2586=)
c.7748C= (p.Thr2583=)
c.7634C= (p.Thr2545=)
c.7469C= (p.Thr2490=)
c.5618C= (p.Thr1873=)
c.3308C= (p.Thr1103=)
n.8007C=
18g.23915383C>GCA402059303LAMA3c.2912C>G (p.Thr971Arg)
c.7739C>G (p.Thr2580Arg)
c.4334C>G (p.Thr1445Arg)
c.7571C>G (p.Thr2524Arg)
c.2517C>G
c.2744C>G (p.Thr915Arg)
n.2317C>G
c.7766C>G (p.Thr2589Arg)
c.7757C>G (p.Thr2586Arg)
c.7748C>G (p.Thr2583Arg)
c.7634C>G (p.Thr2545Arg)
c.7469C>G (p.Thr2490Arg)
c.5618C>G (p.Thr1873Arg)
c.3308C>G (p.Thr1103Arg)
n.8007C>G
18g.23915383C>TCA402059304LAMA3c.2912C>T (p.Thr971Ile)
c.7739C>T (p.Thr2580Ile)
c.4334C>T (p.Thr1445Ile)
c.7571C>T (p.Thr2524Ile)
c.2517C>T
c.2744C>T (p.Thr915Ile)
n.2317C>T
c.7766C>T (p.Thr2589Ile)
c.7757C>T (p.Thr2586Ile)
c.7748C>T (p.Thr2583Ile)
c.7634C>T (p.Thr2545Ile)
c.7469C>T (p.Thr2490Ile)
c.5618C>T (p.Thr1873Ile)
c.3308C>T (p.Thr1103Ile)
n.8007C>T
18g.23915384A=CA2290328986LAMA3c.2913A= (p.Thr971=)
c.7740A= (p.Thr2580=)
c.4335A= (p.Thr1445=)
c.7572A= (p.Thr2524=)
c.2518A=
c.2745A= (p.Thr915=)
n.2318A=
c.7767A= (p.Thr2589=)
c.7758A= (p.Thr2586=)
c.7749A= (p.Thr2583=)
c.7635A= (p.Thr2545=)
c.7470A= (p.Thr2490=)
c.5619A= (p.Thr1873=)
c.3309A= (p.Thr1103=)
n.8008A=
18g.23915384A>CCA503339697LAMA3c.2913A>C (p.Thr971=)
c.7740A>C (p.Thr2580=)
c.4335A>C (p.Thr1445=)
c.7572A>C (p.Thr2524=)
c.2518A>C
c.2745A>C (p.Thr915=)
n.2318A>C
c.7767A>C (p.Thr2589=)
c.7758A>C (p.Thr2586=)
c.7749A>C (p.Thr2583=)
c.7635A>C (p.Thr2545=)
c.7470A>C (p.Thr2490=)
c.5619A>C (p.Thr1873=)
c.3309A>C (p.Thr1103=)
n.8008A>C
18g.23915384A>GCA8916735LAMA3c.2913A>G (p.Thr971=)
c.7740A>G (p.Thr2580=)
c.4335A>G (p.Thr1445=)
c.7572A>G (p.Thr2524=)
c.2518A>G
c.2745A>G (p.Thr915=)
n.2318A>G
c.7767A>G (p.Thr2589=)
c.7758A>G (p.Thr2586=)
c.7749A>G (p.Thr2583=)
c.7635A>G (p.Thr2545=)
c.7470A>G (p.Thr2490=)
c.5619A>G (p.Thr1873=)
c.3309A>G (p.Thr1103=)
n.8008A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915384A>TCA503339698LAMA3c.2913A>T (p.Thr971=)
c.7740A>T (p.Thr2580=)
c.4335A>T (p.Thr1445=)
c.7572A>T (p.Thr2524=)
c.2518A>T
c.2745A>T (p.Thr915=)
n.2318A>T
c.7767A>T (p.Thr2589=)
c.7758A>T (p.Thr2586=)
c.7749A>T (p.Thr2583=)
c.7635A>T (p.Thr2545=)
c.7470A>T (p.Thr2490=)
c.5619A>T (p.Thr1873=)
c.3309A>T (p.Thr1103=)
n.8008A>T
18g.23915385T>ACA402059305LAMA3c.2914T>A (p.Phe972Ile)
c.7741T>A (p.Phe2581Ile)
c.4336T>A (p.Phe1446Ile)
c.7573T>A (p.Phe2525Ile)
c.2519T>A
c.2746T>A (p.Phe916Ile)
n.2319T>A
c.7768T>A (p.Phe2590Ile)
c.7759T>A (p.Phe2587Ile)
c.7750T>A (p.Phe2584Ile)
c.7636T>A (p.Phe2546Ile)
c.7471T>A (p.Phe2491Ile)
c.5620T>A (p.Phe1874Ile)
c.3310T>A (p.Phe1104Ile)
n.8009T>A
18g.23915385T>CCA402059306LAMA3c.2914T>C (p.Phe972Leu)
c.7741T>C (p.Phe2581Leu)
c.4336T>C (p.Phe1446Leu)
c.7573T>C (p.Phe2525Leu)
c.2519T>C
c.2746T>C (p.Phe916Leu)
n.2319T>C
c.7768T>C (p.Phe2590Leu)
c.7759T>C (p.Phe2587Leu)
c.7750T>C (p.Phe2584Leu)
c.7636T>C (p.Phe2546Leu)
c.7471T>C (p.Phe2491Leu)
c.5620T>C (p.Phe1874Leu)
c.3310T>C (p.Phe1104Leu)
n.8009T>C
18g.23915385T>GCA402059307LAMA3c.2914T>G (p.Phe972Val)
c.7741T>G (p.Phe2581Val)
c.4336T>G (p.Phe1446Val)
c.7573T>G (p.Phe2525Val)
c.2519T>G
c.2746T>G (p.Phe916Val)
n.2319T>G
c.7768T>G (p.Phe2590Val)
c.7759T>G (p.Phe2587Val)
c.7750T>G (p.Phe2584Val)
c.7636T>G (p.Phe2546Val)
c.7471T>G (p.Phe2491Val)
c.5620T>G (p.Phe1874Val)
c.3310T>G (p.Phe1104Val)
n.8009T>G
 dbSNP
18g.23915385_23915386delCA2811822938LAMA3c.2914_2915del (p.Phe972GlnfsTer6)
c.7741_7742del (p.Phe2581GlnfsTer6)
c.4336_4337del (p.Phe1446GlnfsTer6)
c.7573_7574del (p.Phe2525GlnfsTer6)
c.2519_2520del
c.2746_2747del (p.Phe916GlnfsTer6)
n.2319_2320del
c.7768_7769del (p.Phe2590GlnfsTer6)
c.7759_7760del (p.Phe2587GlnfsTer6)
c.7750_7751del (p.Phe2584GlnfsTer6)
c.7636_7637del (p.Phe2546GlnfsTer6)
c.7471_7472del (p.Phe2491GlnfsTer6)
c.5620_5621del (p.Phe1874GlnfsTer6)
c.3310_3311del (p.Phe1104GlnfsTer6)
n.8009_8010del
18g.23915386T>ACA402059308LAMA3c.2915T>A (p.Phe972Tyr)
c.7742T>A (p.Phe2581Tyr)
c.4337T>A (p.Phe1446Tyr)
c.7574T>A (p.Phe2525Tyr)
c.2520T>A
c.2747T>A (p.Phe916Tyr)
n.2320T>A
c.7769T>A (p.Phe2590Tyr)
c.7760T>A (p.Phe2587Tyr)
c.7751T>A (p.Phe2584Tyr)
c.7637T>A (p.Phe2546Tyr)
c.7472T>A (p.Phe2491Tyr)
c.5621T>A (p.Phe1874Tyr)
c.3311T>A (p.Phe1104Tyr)
n.8010T>A
18g.23915386T>CCA402059309LAMA3c.2915T>C (p.Phe972Ser)
c.7742T>C (p.Phe2581Ser)
c.4337T>C (p.Phe1446Ser)
c.7574T>C (p.Phe2525Ser)
c.2520T>C
c.2747T>C (p.Phe916Ser)
n.2320T>C
c.7769T>C (p.Phe2590Ser)
c.7760T>C (p.Phe2587Ser)
c.7751T>C (p.Phe2584Ser)
c.7637T>C (p.Phe2546Ser)
c.7472T>C (p.Phe2491Ser)
c.5621T>C (p.Phe1874Ser)
c.3311T>C (p.Phe1104Ser)
n.8010T>C
 gnomAD v4
18g.23915386T>GCA402059310LAMA3c.2915T>G (p.Phe972Cys)
c.7742T>G (p.Phe2581Cys)
c.4337T>G (p.Phe1446Cys)
c.7574T>G (p.Phe2525Cys)
c.2520T>G
c.2747T>G (p.Phe916Cys)
n.2320T>G
c.7769T>G (p.Phe2590Cys)
c.7760T>G (p.Phe2587Cys)
c.7751T>G (p.Phe2584Cys)
c.7637T>G (p.Phe2546Cys)
c.7472T>G (p.Phe2491Cys)
c.5621T>G (p.Phe1874Cys)
c.3311T>G (p.Phe1104Cys)
n.8010T>G
18g.23915387C>ACA402059311LAMA3c.2916C>A (p.Phe972Leu)
c.7743C>A (p.Phe2581Leu)
c.4338C>A (p.Phe1446Leu)
c.7575C>A (p.Phe2525Leu)
c.2521C>A
c.2748C>A (p.Phe916Leu)
n.2321C>A
c.7770C>A (p.Phe2590Leu)
c.7761C>A (p.Phe2587Leu)
c.7752C>A (p.Phe2584Leu)
c.7638C>A (p.Phe2546Leu)
c.7473C>A (p.Phe2491Leu)
c.5622C>A (p.Phe1874Leu)
c.3312C>A (p.Phe1104Leu)
n.8011C>A
18g.23915387C>GCA402059312LAMA3c.2916C>G (p.Phe972Leu)
c.7743C>G (p.Phe2581Leu)
c.4338C>G (p.Phe1446Leu)
c.7575C>G (p.Phe2525Leu)
c.2521C>G
c.2748C>G (p.Phe916Leu)
n.2321C>G
c.7770C>G (p.Phe2590Leu)
c.7761C>G (p.Phe2587Leu)
c.7752C>G (p.Phe2584Leu)
c.7638C>G (p.Phe2546Leu)
c.7473C>G (p.Phe2491Leu)
c.5622C>G (p.Phe1874Leu)
c.3312C>G (p.Phe1104Leu)
n.8011C>G
 COSMIC COSMIC
18g.23915387C>TCA503339700LAMA3c.2916C>T (p.Phe972=)
c.7743C>T (p.Phe2581=)
c.4338C>T (p.Phe1446=)
c.7575C>T (p.Phe2525=)
c.2521C>T
c.2748C>T (p.Phe916=)
n.2321C>T
c.7770C>T (p.Phe2590=)
c.7761C>T (p.Phe2587=)
c.7752C>T (p.Phe2584=)
c.7638C>T (p.Phe2546=)
c.7473C>T (p.Phe2491=)
c.5622C>T (p.Phe1874=)
c.3312C>T (p.Phe1104=)
n.8011C>T
 gnomAD v4
18g.23915388A=CA2290328989LAMA3c.2917A= (p.Asn973=)
c.7744A= (p.Asn2582=)
c.4339A= (p.Asn1447=)
c.7576A= (p.Asn2526=)
c.2522A=
c.2749A= (p.Asn917=)
n.2322A=
c.7771A= (p.Asn2591=)
c.7762A= (p.Asn2588=)
c.7753A= (p.Asn2585=)
c.7639A= (p.Asn2547=)
c.7474A= (p.Asn2492=)
c.5623A= (p.Asn1875=)
c.3313A= (p.Asn1105=)
n.8012A=
18g.23915388A>CCA402059313LAMA3c.2917A>C (p.Asn973His)
c.7744A>C (p.Asn2582His)
c.4339A>C (p.Asn1447His)
c.7576A>C (p.Asn2526His)
c.2522A>C
c.2749A>C (p.Asn917His)
n.2322A>C
c.7771A>C (p.Asn2591His)
c.7762A>C (p.Asn2588His)
c.7753A>C (p.Asn2585His)
c.7639A>C (p.Asn2547His)
c.7474A>C (p.Asn2492His)
c.5623A>C (p.Asn1875His)
c.3313A>C (p.Asn1105His)
n.8012A>C
18g.23915388A>GCA402059314LAMA3c.2917A>G (p.Asn973Asp)
c.7744A>G (p.Asn2582Asp)
c.4339A>G (p.Asn1447Asp)
c.7576A>G (p.Asn2526Asp)
c.2522A>G
c.2749A>G (p.Asn917Asp)
n.2322A>G
c.7771A>G (p.Asn2591Asp)
c.7762A>G (p.Asn2588Asp)
c.7753A>G (p.Asn2585Asp)
c.7639A>G (p.Asn2547Asp)
c.7474A>G (p.Asn2492Asp)
c.5623A>G (p.Asn1875Asp)
c.3313A>G (p.Asn1105Asp)
n.8012A>G
 dbSNP gnomAD v4
18g.23915388A>TCA402059315LAMA3c.2917A>T (p.Asn973Tyr)
c.7744A>T (p.Asn2582Tyr)
c.4339A>T (p.Asn1447Tyr)
c.7576A>T (p.Asn2526Tyr)
c.2522A>T
c.2749A>T (p.Asn917Tyr)
n.2322A>T
c.7771A>T (p.Asn2591Tyr)
c.7762A>T (p.Asn2588Tyr)
c.7753A>T (p.Asn2585Tyr)
c.7639A>T (p.Asn2547Tyr)
c.7474A>T (p.Asn2492Tyr)
c.5623A>T (p.Asn1875Tyr)
c.3313A>T (p.Asn1105Tyr)
n.8012A>T
18g.23915389A=CA2290328991LAMA3c.2918A= (p.Asn973=)
c.7745A= (p.Asn2582=)
c.4340A= (p.Asn1447=)
c.7577A= (p.Asn2526=)
c.2523A=
c.2750A= (p.Asn917=)
n.2323A=
c.7772A= (p.Asn2591=)
c.7763A= (p.Asn2588=)
c.7754A= (p.Asn2585=)
c.7640A= (p.Asn2547=)
c.7475A= (p.Asn2492=)
c.5624A= (p.Asn1875=)
c.3314A= (p.Asn1105=)
n.8013A=
18g.23915389A>CCA402059317LAMA3c.2918A>C (p.Asn973Thr)
c.7745A>C (p.Asn2582Thr)
c.4340A>C (p.Asn1447Thr)
c.7577A>C (p.Asn2526Thr)
c.2523A>C
c.2750A>C (p.Asn917Thr)
n.2323A>C
c.7772A>C (p.Asn2591Thr)
c.7763A>C (p.Asn2588Thr)
c.7754A>C (p.Asn2585Thr)
c.7640A>C (p.Asn2547Thr)
c.7475A>C (p.Asn2492Thr)
c.5624A>C (p.Asn1875Thr)
c.3314A>C (p.Asn1105Thr)
n.8013A>C
18g.23915389A>GCA8916736LAMA3c.2918A>G (p.Asn973Ser)
c.7745A>G (p.Asn2582Ser)
c.4340A>G (p.Asn1447Ser)
c.7577A>G (p.Asn2526Ser)
c.2523A>G
c.2750A>G (p.Asn917Ser)
n.2323A>G
c.7772A>G (p.Asn2591Ser)
c.7763A>G (p.Asn2588Ser)
c.7754A>G (p.Asn2585Ser)
c.7640A>G (p.Asn2547Ser)
c.7475A>G (p.Asn2492Ser)
c.5624A>G (p.Asn1875Ser)
c.3314A>G (p.Asn1105Ser)
n.8013A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23915389A>TCA402059316LAMA3c.2918A>T (p.Asn973Ile)
c.7745A>T (p.Asn2582Ile)
c.4340A>T (p.Asn1447Ile)
c.7577A>T (p.Asn2526Ile)
c.2523A>T
c.2750A>T (p.Asn917Ile)
n.2323A>T
c.7772A>T (p.Asn2591Ile)
c.7763A>T (p.Asn2588Ile)
c.7754A>T (p.Asn2585Ile)
c.7640A>T (p.Asn2547Ile)
c.7475A>T (p.Asn2492Ile)
c.5624A>T (p.Asn1875Ile)
c.3314A>T (p.Asn1105Ile)
n.8013A>T
18g.23915389_23915390delCA2811822939LAMA3c.2918_2919del (p.Asn973ThrfsTer5)
c.7745_7746del (p.Asn2582ThrfsTer5)
c.4340_4341del (p.Asn1447ThrfsTer5)
c.7577_7578del (p.Asn2526ThrfsTer5)
c.2523_2524del
c.2750_2751del (p.Asn917ThrfsTer5)
n.2323_2324del
c.7772_7773del (p.Asn2591ThrfsTer5)
c.7763_7764del (p.Asn2588ThrfsTer5)
c.7754_7755del (p.Asn2585ThrfsTer5)
c.7640_7641del (p.Asn2547ThrfsTer5)
c.7475_7476del (p.Asn2492ThrfsTer5)
c.5624_5625del (p.Asn1875ThrfsTer5)
c.3314_3315del (p.Asn1105ThrfsTer5)
n.8013_8014del
18g.23915390T>ACA402059319LAMA3c.2919T>A (p.Asn973Lys)
c.7746T>A (p.Asn2582Lys)
c.4341T>A (p.Asn1447Lys)
c.7578T>A (p.Asn2526Lys)
c.2524T>A
c.2751T>A (p.Asn917Lys)
n.2324T>A
c.7773T>A (p.Asn2591Lys)
c.7764T>A (p.Asn2588Lys)
c.7755T>A (p.Asn2585Lys)
c.7641T>A (p.Asn2547Lys)
c.7476T>A (p.Asn2492Lys)
c.5625T>A (p.Asn1875Lys)
c.3315T>A (p.Asn1105Lys)
n.8014T>A
18g.23915390T>CCA503339702LAMA3c.2919T>C (p.Asn973=)
c.7746T>C (p.Asn2582=)
c.4341T>C (p.Asn1447=)
c.7578T>C (p.Asn2526=)
c.2524T>C
c.2751T>C (p.Asn917=)
n.2324T>C
c.7773T>C (p.Asn2591=)
c.7764T>C (p.Asn2588=)
c.7755T>C (p.Asn2585=)
c.7641T>C (p.Asn2547=)
c.7476T>C (p.Asn2492=)
c.5625T>C (p.Asn1875=)
c.3315T>C (p.Asn1105=)
n.8014T>C
18g.23915390T>GCA402059318LAMA3c.2919T>G (p.Asn973Lys)
c.7746T>G (p.Asn2582Lys)
c.4341T>G (p.Asn1447Lys)
c.7578T>G (p.Asn2526Lys)
c.2524T>G
c.2751T>G (p.Asn917Lys)
n.2324T>G
c.7773T>G (p.Asn2591Lys)
c.7764T>G (p.Asn2588Lys)
c.7755T>G (p.Asn2585Lys)
c.7641T>G (p.Asn2547Lys)
c.7476T>G (p.Asn2492Lys)
c.5625T>G (p.Asn1875Lys)
c.3315T>G (p.Asn1105Lys)
n.8014T>G
18g.23915391C>ACA402059321LAMA3c.2920C>A (p.Leu974Ile)
c.7747C>A (p.Leu2583Ile)
c.4342C>A (p.Leu1448Ile)
c.7579C>A (p.Leu2527Ile)
c.2525C>A
c.2752C>A (p.Leu918Ile)
n.2325C>A
c.7774C>A (p.Leu2592Ile)
c.7765C>A (p.Leu2589Ile)
c.7756C>A (p.Leu2586Ile)
c.7642C>A (p.Leu2548Ile)
c.7477C>A (p.Leu2493Ile)
c.5626C>A (p.Leu1876Ile)
c.3316C>A (p.Leu1106Ile)
n.8015C>A
18g.23915391C>GCA402059320LAMA3c.2920C>G (p.Leu974Val)
c.7747C>G (p.Leu2583Val)
c.4342C>G (p.Leu1448Val)
c.7579C>G (p.Leu2527Val)
c.2525C>G
c.2752C>G (p.Leu918Val)
n.2325C>G
c.7774C>G (p.Leu2592Val)
c.7765C>G (p.Leu2589Val)
c.7756C>G (p.Leu2586Val)
c.7642C>G (p.Leu2548Val)
c.7477C>G (p.Leu2493Val)
c.5626C>G (p.Leu1876Val)
c.3316C>G (p.Leu1106Val)
n.8015C>G
18g.23915391C>TCA402059322LAMA3c.2920C>T (p.Leu974Phe)
c.7747C>T (p.Leu2583Phe)
c.4342C>T (p.Leu1448Phe)
c.7579C>T (p.Leu2527Phe)
c.2525C>T
c.2752C>T (p.Leu918Phe)
n.2325C>T
c.7774C>T (p.Leu2592Phe)
c.7765C>T (p.Leu2589Phe)
c.7756C>T (p.Leu2586Phe)
c.7642C>T (p.Leu2548Phe)
c.7477C>T (p.Leu2493Phe)
c.5626C>T (p.Leu1876Phe)
c.3316C>T (p.Leu1106Phe)
n.8015C>T
18g.23915392T>ACA402059323LAMA3c.2921T>A (p.Leu974His)
c.7748T>A (p.Leu2583His)
c.4343T>A (p.Leu1448His)
c.7580T>A (p.Leu2527His)
c.2526T>A
c.2753T>A (p.Leu918His)
n.2326T>A
c.7775T>A (p.Leu2592His)
c.7766T>A (p.Leu2589His)
c.7757T>A (p.Leu2586His)
c.7643T>A (p.Leu2548His)
c.7478T>A (p.Leu2493His)
c.5627T>A (p.Leu1876His)
c.3317T>A (p.Leu1106His)
n.8016T>A
18g.23915392T>CCA402059325LAMA3c.2921T>C (p.Leu974Pro)
c.7748T>C (p.Leu2583Pro)
c.4343T>C (p.Leu1448Pro)
c.7580T>C (p.Leu2527Pro)
c.2526T>C
c.2753T>C (p.Leu918Pro)
n.2326T>C
c.7775T>C (p.Leu2592Pro)
c.7766T>C (p.Leu2589Pro)
c.7757T>C (p.Leu2586Pro)
c.7643T>C (p.Leu2548Pro)
c.7478T>C (p.Leu2493Pro)
c.5627T>C (p.Leu1876Pro)
c.3317T>C (p.Leu1106Pro)
n.8016T>C
18g.23915392T>GCA402059324LAMA3c.2921T>G (p.Leu974Arg)
c.7748T>G (p.Leu2583Arg)
c.4343T>G (p.Leu1448Arg)
c.7580T>G (p.Leu2527Arg)
c.2526T>G
c.2753T>G (p.Leu918Arg)
n.2326T>G
c.7775T>G (p.Leu2592Arg)
c.7766T>G (p.Leu2589Arg)
c.7757T>G (p.Leu2586Arg)
c.7643T>G (p.Leu2548Arg)
c.7478T>G (p.Leu2493Arg)
c.5627T>G (p.Leu1876Arg)
c.3317T>G (p.Leu1106Arg)
n.8016T>G
18g.23915393C>ACA503339707LAMA3c.2922C>A (p.Leu974=)
c.7749C>A (p.Leu2583=)
c.4344C>A (p.Leu1448=)
c.7581C>A (p.Leu2527=)
c.2527C>A
c.2754C>A (p.Leu918=)
n.2327C>A
c.7776C>A (p.Leu2592=)
c.7767C>A (p.Leu2589=)
c.7758C>A (p.Leu2586=)
c.7644C>A (p.Leu2548=)
c.7479C>A (p.Leu2493=)
c.5628C>A (p.Leu1876=)
c.3318C>A (p.Leu1106=)
n.8017C>A
18g.23915393C=CA2290328993LAMA3c.2922C= (p.Leu974=)
c.7749C= (p.Leu2583=)
c.4344C= (p.Leu1448=)
c.7581C= (p.Leu2527=)
c.2527C=
c.2754C= (p.Leu918=)
n.2327C=
c.7776C= (p.Leu2592=)
c.7767C= (p.Leu2589=)
c.7758C= (p.Leu2586=)
c.7644C= (p.Leu2548=)
c.7479C= (p.Leu2493=)
c.5628C= (p.Leu1876=)
c.3318C= (p.Leu1106=)
n.8017C=
18g.23915393C>GCA8916737LAMA3c.2922C>G (p.Leu974=)
c.7749C>G (p.Leu2583=)
c.4344C>G (p.Leu1448=)
c.7581C>G (p.Leu2527=)
c.2527C>G
c.2754C>G (p.Leu918=)
n.2327C>G
c.7776C>G (p.Leu2592=)
c.7767C>G (p.Leu2589=)
c.7758C>G (p.Leu2586=)
c.7644C>G (p.Leu2548=)
c.7479C>G (p.Leu2493=)
c.5628C>G (p.Leu1876=)
c.3318C>G (p.Leu1106=)
n.8017C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915393C>TCA503339706LAMA3c.2922C>T (p.Leu974=)
c.7749C>T (p.Leu2583=)
c.4344C>T (p.Leu1448=)
c.7581C>T (p.Leu2527=)
c.2527C>T
c.2754C>T (p.Leu918=)
n.2327C>T
c.7776C>T (p.Leu2592=)
c.7767C>T (p.Leu2589=)
c.7758C>T (p.Leu2586=)
c.7644C>T (p.Leu2548=)
c.7479C>T (p.Leu2493=)
c.5628C>T (p.Leu1876=)
c.3318C>T (p.Leu1106=)
n.8017C>T
18g.23915394A=CA2290328995LAMA3c.2923A= (p.Asn975=)
c.7750A= (p.Asn2584=)
c.4345A= (p.Asn1449=)
c.7582A= (p.Asn2528=)
c.2528A=
c.2755A= (p.Asn919=)
n.2328A=
c.7777A= (p.Asn2593=)
c.7768A= (p.Asn2590=)
c.7759A= (p.Asn2587=)
c.7645A= (p.Asn2549=)
c.7480A= (p.Asn2494=)
c.5629A= (p.Asn1877=)
c.3319A= (p.Asn1107=)
n.8018A=
18g.23915394A>CCA402059328LAMA3c.2923A>C (p.Asn975His)
c.7750A>C (p.Asn2584His)
c.4345A>C (p.Asn1449His)
c.7582A>C (p.Asn2528His)
c.2528A>C
c.2755A>C (p.Asn919His)
n.2328A>C
c.7777A>C (p.Asn2593His)
c.7768A>C (p.Asn2590His)
c.7759A>C (p.Asn2587His)
c.7645A>C (p.Asn2549His)
c.7480A>C (p.Asn2494His)
c.5629A>C (p.Asn1877His)
c.3319A>C (p.Asn1107His)
n.8018A>C
 gnomAD v4
18g.23915394A>GCA402059326LAMA3c.2923A>G (p.Asn975Asp)
c.7750A>G (p.Asn2584Asp)
c.4345A>G (p.Asn1449Asp)
c.7582A>G (p.Asn2528Asp)
c.2528A>G
c.2755A>G (p.Asn919Asp)
n.2328A>G
c.7777A>G (p.Asn2593Asp)
c.7768A>G (p.Asn2590Asp)
c.7759A>G (p.Asn2587Asp)
c.7645A>G (p.Asn2549Asp)
c.7480A>G (p.Asn2494Asp)
c.5629A>G (p.Asn1877Asp)
c.3319A>G (p.Asn1107Asp)
n.8018A>G
 dbSNP gnomAD v4
18g.23915394A>TCA402059327LAMA3c.2923A>T (p.Asn975Tyr)
c.7750A>T (p.Asn2584Tyr)
c.4345A>T (p.Asn1449Tyr)
c.7582A>T (p.Asn2528Tyr)
c.2528A>T
c.2755A>T (p.Asn919Tyr)
n.2328A>T
c.7777A>T (p.Asn2593Tyr)
c.7768A>T (p.Asn2590Tyr)
c.7759A>T (p.Asn2587Tyr)
c.7645A>T (p.Asn2549Tyr)
c.7480A>T (p.Asn2494Tyr)
c.5629A>T (p.Asn1877Tyr)
c.3319A>T (p.Asn1107Tyr)
n.8018A>T
18g.23915395A=CA2290328997LAMA3c.2924A= (p.Asn975=)
c.7751A= (p.Asn2584=)
c.4346A= (p.Asn1449=)
c.7583A= (p.Asn2528=)
c.2529A=
c.2756A= (p.Asn919=)
n.2329A=
c.7778A= (p.Asn2593=)
c.7769A= (p.Asn2590=)
c.7760A= (p.Asn2587=)
c.7646A= (p.Asn2549=)
c.7481A= (p.Asn2494=)
c.5630A= (p.Asn1877=)
c.3320A= (p.Asn1107=)
n.8019A=
18g.23915395A>CCA402059329LAMA3c.2924A>C (p.Asn975Thr)
c.7751A>C (p.Asn2584Thr)
c.4346A>C (p.Asn1449Thr)
c.7583A>C (p.Asn2528Thr)
c.2529A>C
c.2756A>C (p.Asn919Thr)
n.2329A>C
c.7778A>C (p.Asn2593Thr)
c.7769A>C (p.Asn2590Thr)
c.7760A>C (p.Asn2587Thr)
c.7646A>C (p.Asn2549Thr)
c.7481A>C (p.Asn2494Thr)
c.5630A>C (p.Asn1877Thr)
c.3320A>C (p.Asn1107Thr)
n.8019A>C
 dbSNP
18g.23915395A>GCA8916738LAMA3c.2924A>G (p.Asn975Ser)
c.7751A>G (p.Asn2584Ser)
c.4346A>G (p.Asn1449Ser)
c.7583A>G (p.Asn2528Ser)
c.2529A>G
c.2756A>G (p.Asn919Ser)
n.2329A>G
c.7778A>G (p.Asn2593Ser)
c.7769A>G (p.Asn2590Ser)
c.7760A>G (p.Asn2587Ser)
c.7646A>G (p.Asn2549Ser)
c.7481A>G (p.Asn2494Ser)
c.5630A>G (p.Asn1877Ser)
c.3320A>G (p.Asn1107Ser)
n.8019A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915395A>TCA402059330LAMA3c.2924A>T (p.Asn975Ile)
c.7751A>T (p.Asn2584Ile)
c.4346A>T (p.Asn1449Ile)
c.7583A>T (p.Asn2528Ile)
c.2529A>T
c.2756A>T (p.Asn919Ile)
n.2329A>T
c.7778A>T (p.Asn2593Ile)
c.7769A>T (p.Asn2590Ile)
c.7760A>T (p.Asn2587Ile)
c.7646A>T (p.Asn2549Ile)
c.7481A>T (p.Asn2494Ile)
c.5630A>T (p.Asn1877Ile)
c.3320A>T (p.Asn1107Ile)
n.8019A>T
18g.23915396C>ACA402059331LAMA3c.2925C>A (p.Asn975Lys)
c.7752C>A (p.Asn2584Lys)
c.4347C>A (p.Asn1449Lys)
c.7584C>A (p.Asn2528Lys)
c.2530C>A
c.2757C>A (p.Asn919Lys)
n.2330C>A
c.7779C>A (p.Asn2593Lys)
c.7770C>A (p.Asn2590Lys)
c.7761C>A (p.Asn2587Lys)
c.7647C>A (p.Asn2549Lys)
c.7482C>A (p.Asn2494Lys)
c.5631C>A (p.Asn1877Lys)
c.3321C>A (p.Asn1107Lys)
n.8020C>A
18g.23915396C=CA2290328999LAMA3c.2925C= (p.Asn975=)
c.7752C= (p.Asn2584=)
c.4347C= (p.Asn1449=)
c.7584C= (p.Asn2528=)
c.2530C=
c.2757C= (p.Asn919=)
n.2330C=
c.7779C= (p.Asn2593=)
c.7770C= (p.Asn2590=)
c.7761C= (p.Asn2587=)
c.7647C= (p.Asn2549=)
c.7482C= (p.Asn2494=)
c.5631C= (p.Asn1877=)
c.3321C= (p.Asn1107=)
n.8020C=
18g.23915396C>GCA402059332LAMA3c.2925C>G (p.Asn975Lys)
c.7752C>G (p.Asn2584Lys)
c.4347C>G (p.Asn1449Lys)
c.7584C>G (p.Asn2528Lys)
c.2530C>G
c.2757C>G (p.Asn919Lys)
n.2330C>G
c.7779C>G (p.Asn2593Lys)
c.7770C>G (p.Asn2590Lys)
c.7761C>G (p.Asn2587Lys)
c.7647C>G (p.Asn2549Lys)
c.7482C>G (p.Asn2494Lys)
c.5631C>G (p.Asn1877Lys)
c.3321C>G (p.Asn1107Lys)
n.8020C>G
18g.23915396C>TCA8916739LAMA3c.2925C>T (p.Asn975=)
c.7752C>T (p.Asn2584=)
c.4347C>T (p.Asn1449=)
c.7584C>T (p.Asn2528=)
c.2530C>T
c.2757C>T (p.Asn919=)
n.2330C>T
c.7779C>T (p.Asn2593=)
c.7770C>T (p.Asn2590=)
c.7761C>T (p.Asn2587=)
c.7647C>T (p.Asn2549=)
c.7482C>T (p.Asn2494=)
c.5631C>T (p.Asn1877=)
c.3321C>T (p.Asn1107=)
n.8020C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915397A=CA2290329001LAMA3c.2926A= (p.Thr976=)
c.7753A= (p.Thr2585=)
c.4348A= (p.Thr1450=)
c.7585A= (p.Thr2529=)
c.2531A=
c.2758A= (p.Thr920=)
n.2331A=
c.7780A= (p.Thr2594=)
c.7771A= (p.Thr2591=)
c.7762A= (p.Thr2588=)
c.7648A= (p.Thr2550=)
c.7483A= (p.Thr2495=)
c.5632A= (p.Thr1878=)
c.3322A= (p.Thr1108=)
n.8021A=
18g.23915397A>CCA402059333LAMA3c.2926A>C (p.Thr976Pro)
c.7753A>C (p.Thr2585Pro)
c.4348A>C (p.Thr1450Pro)
c.7585A>C (p.Thr2529Pro)
c.2531A>C
c.2758A>C (p.Thr920Pro)
n.2331A>C
c.7780A>C (p.Thr2594Pro)
c.7771A>C (p.Thr2591Pro)
c.7762A>C (p.Thr2588Pro)
c.7648A>C (p.Thr2550Pro)
c.7483A>C (p.Thr2495Pro)
c.5632A>C (p.Thr1878Pro)
c.3322A>C (p.Thr1108Pro)
n.8021A>C
18g.23915397A>GCA402059334LAMA3c.2926A>G (p.Thr976Ala)
c.7753A>G (p.Thr2585Ala)
c.4348A>G (p.Thr1450Ala)
c.7585A>G (p.Thr2529Ala)
c.2531A>G
c.2758A>G (p.Thr920Ala)
n.2331A>G
c.7780A>G (p.Thr2594Ala)
c.7771A>G (p.Thr2591Ala)
c.7762A>G (p.Thr2588Ala)
c.7648A>G (p.Thr2550Ala)
c.7483A>G (p.Thr2495Ala)
c.5632A>G (p.Thr1878Ala)
c.3322A>G (p.Thr1108Ala)
n.8021A>G
 dbSNP gnomAD v2 gnomAD v4
18g.23915397A>TCA402059335LAMA3c.2926A>T (p.Thr976Ser)
c.7753A>T (p.Thr2585Ser)
c.4348A>T (p.Thr1450Ser)
c.7585A>T (p.Thr2529Ser)
c.2531A>T
c.2758A>T (p.Thr920Ser)
n.2331A>T
c.7780A>T (p.Thr2594Ser)
c.7771A>T (p.Thr2591Ser)
c.7762A>T (p.Thr2588Ser)
c.7648A>T (p.Thr2550Ser)
c.7483A>T (p.Thr2495Ser)
c.5632A>T (p.Thr1878Ser)
c.3322A>T (p.Thr1108Ser)
n.8021A>T
18g.23915398C>ACA402059338LAMA3c.2927C>A (p.Thr976Lys)
c.7754C>A (p.Thr2585Lys)
c.4349C>A (p.Thr1450Lys)
c.7586C>A (p.Thr2529Lys)
c.2532C>A
c.2759C>A (p.Thr920Lys)
n.2332C>A
c.7781C>A (p.Thr2594Lys)
c.7772C>A (p.Thr2591Lys)
c.7763C>A (p.Thr2588Lys)
c.7649C>A (p.Thr2550Lys)
c.7484C>A (p.Thr2495Lys)
c.5633C>A (p.Thr1878Lys)
c.3323C>A (p.Thr1108Lys)
n.8022C>A
18g.23915398C>GCA402059337LAMA3c.2927C>G (p.Thr976Arg)
c.7754C>G (p.Thr2585Arg)
c.4349C>G (p.Thr1450Arg)
c.7586C>G (p.Thr2529Arg)
c.2532C>G
c.2759C>G (p.Thr920Arg)
n.2332C>G
c.7781C>G (p.Thr2594Arg)
c.7772C>G (p.Thr2591Arg)
c.7763C>G (p.Thr2588Arg)
c.7649C>G (p.Thr2550Arg)
c.7484C>G (p.Thr2495Arg)
c.5633C>G (p.Thr1878Arg)
c.3323C>G (p.Thr1108Arg)
n.8022C>G
18g.23915398C>TCA402059336LAMA3c.2927C>T (p.Thr976Ile)
c.7754C>T (p.Thr2585Ile)
c.4349C>T (p.Thr1450Ile)
c.7586C>T (p.Thr2529Ile)
c.2532C>T
c.2759C>T (p.Thr920Ile)
n.2332C>T
c.7781C>T (p.Thr2594Ile)
c.7772C>T (p.Thr2591Ile)
c.7763C>T (p.Thr2588Ile)
c.7649C>T (p.Thr2550Ile)
c.7484C>T (p.Thr2495Ile)
c.5633C>T (p.Thr1878Ile)
c.3323C>T (p.Thr1108Ile)
n.8022C>T
18g.23915399A>CCA503339711LAMA3c.2928A>C (p.Thr976=)
c.7755A>C (p.Thr2585=)
c.4350A>C (p.Thr1450=)
c.7587A>C (p.Thr2529=)
c.2533A>C
c.2760A>C (p.Thr920=)
n.2333A>C
c.7782A>C (p.Thr2594=)
c.7773A>C (p.Thr2591=)
c.7764A>C (p.Thr2588=)
c.7650A>C (p.Thr2550=)
c.7485A>C (p.Thr2495=)
c.5634A>C (p.Thr1878=)
c.3324A>C (p.Thr1108=)
n.8023A>C
18g.23915399A>GCA503339713LAMA3c.2928A>G (p.Thr976=)
c.7755A>G (p.Thr2585=)
c.4350A>G (p.Thr1450=)
c.7587A>G (p.Thr2529=)
c.2533A>G
c.2760A>G (p.Thr920=)
n.2333A>G
c.7782A>G (p.Thr2594=)
c.7773A>G (p.Thr2591=)
c.7764A>G (p.Thr2588=)
c.7650A>G (p.Thr2550=)
c.7485A>G (p.Thr2495=)
c.5634A>G (p.Thr1878=)
c.3324A>G (p.Thr1108=)
n.8023A>G
18g.23915399A>TCA503339712LAMA3c.2928A>T (p.Thr976=)
c.7755A>T (p.Thr2585=)
c.4350A>T (p.Thr1450=)
c.7587A>T (p.Thr2529=)
c.2533A>T
c.2760A>T (p.Thr920=)
n.2333A>T
c.7782A>T (p.Thr2594=)
c.7773A>T (p.Thr2591=)
c.7764A>T (p.Thr2588=)
c.7650A>T (p.Thr2550=)
c.7485A>T (p.Thr2495=)
c.5634A>T (p.Thr1878=)
c.3324A>T (p.Thr1108=)
n.8023A>T
18g.23915400A=CA2290329002LAMA3c.2929A= (p.Thr977=)
c.7756A= (p.Thr2586=)
c.4351A= (p.Thr1451=)
c.7588A= (p.Thr2530=)
c.2534A=
c.2761A= (p.Thr921=)
n.2334A=
c.7783A= (p.Thr2595=)
c.7774A= (p.Thr2592=)
c.7765A= (p.Thr2589=)
c.7651A= (p.Thr2551=)
c.7486A= (p.Thr2496=)
c.5635A= (p.Thr1879=)
c.3325A= (p.Thr1109=)
n.8024A=
18g.23915400A>CCA402059339LAMA3c.2929A>C (p.Thr977Pro)
c.7756A>C (p.Thr2586Pro)
c.4351A>C (p.Thr1451Pro)
c.7588A>C (p.Thr2530Pro)
c.2534A>C
c.2761A>C (p.Thr921Pro)
n.2334A>C
c.7783A>C (p.Thr2595Pro)
c.7774A>C (p.Thr2592Pro)
c.7765A>C (p.Thr2589Pro)
c.7651A>C (p.Thr2551Pro)
c.7486A>C (p.Thr2496Pro)
c.5635A>C (p.Thr1879Pro)
c.3325A>C (p.Thr1109Pro)
n.8024A>C
18g.23915400A>GCA402059340LAMA3c.2929A>G (p.Thr977Ala)
c.7756A>G (p.Thr2586Ala)
c.4351A>G (p.Thr1451Ala)
c.7588A>G (p.Thr2530Ala)
c.2534A>G
c.2761A>G (p.Thr921Ala)
n.2334A>G
c.7783A>G (p.Thr2595Ala)
c.7774A>G (p.Thr2592Ala)
c.7765A>G (p.Thr2589Ala)
c.7651A>G (p.Thr2551Ala)
c.7486A>G (p.Thr2496Ala)
c.5635A>G (p.Thr1879Ala)
c.3325A>G (p.Thr1109Ala)
n.8024A>G
 dbSNP gnomAD v2
18g.23915400A>TCA402059341LAMA3c.2929A>T (p.Thr977Ser)
c.7756A>T (p.Thr2586Ser)
c.4351A>T (p.Thr1451Ser)
c.7588A>T (p.Thr2530Ser)
c.2534A>T
c.2761A>T (p.Thr921Ser)
n.2334A>T
c.7783A>T (p.Thr2595Ser)
c.7774A>T (p.Thr2592Ser)
c.7765A>T (p.Thr2589Ser)
c.7651A>T (p.Thr2551Ser)
c.7486A>T (p.Thr2496Ser)
c.5635A>T (p.Thr1879Ser)
c.3325A>T (p.Thr1109Ser)
n.8024A>T
 COSMIC COSMIC
18g.23915401C>ACA402059342LAMA3c.2930C>A (p.Thr977Asn)
c.7757C>A (p.Thr2586Asn)
c.4352C>A (p.Thr1451Asn)
c.7589C>A (p.Thr2530Asn)
c.2535C>A
c.2762C>A (p.Thr921Asn)
n.2335C>A
c.7784C>A (p.Thr2595Asn)
c.7775C>A (p.Thr2592Asn)
c.7766C>A (p.Thr2589Asn)
c.7652C>A (p.Thr2551Asn)
c.7487C>A (p.Thr2496Asn)
c.5636C>A (p.Thr1879Asn)
c.3326C>A (p.Thr1109Asn)
n.8025C>A
18g.23915401C=CA2290329004LAMA3c.2930C= (p.Thr977=)
c.7757C= (p.Thr2586=)
c.4352C= (p.Thr1451=)
c.7589C= (p.Thr2530=)
c.2535C=
c.2762C= (p.Thr921=)
n.2335C=
c.7784C= (p.Thr2595=)
c.7775C= (p.Thr2592=)
c.7766C= (p.Thr2589=)
c.7652C= (p.Thr2551=)
c.7487C= (p.Thr2496=)
c.5636C= (p.Thr1879=)
c.3326C= (p.Thr1109=)
n.8025C=
18g.23915401C>GCA402059343LAMA3c.2930C>G (p.Thr977Ser)
c.7757C>G (p.Thr2586Ser)
c.4352C>G (p.Thr1451Ser)
c.7589C>G (p.Thr2530Ser)
c.2535C>G
c.2762C>G (p.Thr921Ser)
n.2335C>G
c.7784C>G (p.Thr2595Ser)
c.7775C>G (p.Thr2592Ser)
c.7766C>G (p.Thr2589Ser)
c.7652C>G (p.Thr2551Ser)
c.7487C>G (p.Thr2496Ser)
c.5636C>G (p.Thr1879Ser)
c.3326C>G (p.Thr1109Ser)
n.8025C>G
 gnomAD v4
18g.23915401C>TCA402059344LAMA3c.2930C>T (p.Thr977Ile)
c.7757C>T (p.Thr2586Ile)
c.4352C>T (p.Thr1451Ile)
c.7589C>T (p.Thr2530Ile)
c.2535C>T
c.2762C>T (p.Thr921Ile)
n.2335C>T
c.7784C>T (p.Thr2595Ile)
c.7775C>T (p.Thr2592Ile)
c.7766C>T (p.Thr2589Ile)
c.7652C>T (p.Thr2551Ile)
c.7487C>T (p.Thr2496Ile)
c.5636C>T (p.Thr1879Ile)
c.3326C>T (p.Thr1109Ile)
n.8025C>T
 dbSNP gnomAD v2
18g.23915402T>ACA503339714LAMA3c.2931T>A (p.Thr977=)
c.7758T>A (p.Thr2586=)
c.4353T>A (p.Thr1451=)
c.7590T>A (p.Thr2530=)
c.2536T>A
c.2763T>A (p.Thr921=)
n.2336T>A
c.7785T>A (p.Thr2595=)
c.7776T>A (p.Thr2592=)
c.7767T>A (p.Thr2589=)
c.7653T>A (p.Thr2551=)
c.7488T>A (p.Thr2496=)
c.5637T>A (p.Thr1879=)
c.3327T>A (p.Thr1109=)
n.8026T>A
18g.23915402T>CCA503339715LAMA3c.2931T>C (p.Thr977=)
c.7758T>C (p.Thr2586=)
c.4353T>C (p.Thr1451=)
c.7590T>C (p.Thr2530=)
c.2536T>C
c.2763T>C (p.Thr921=)
n.2336T>C
c.7785T>C (p.Thr2595=)
c.7776T>C (p.Thr2592=)
c.7767T>C (p.Thr2589=)
c.7653T>C (p.Thr2551=)
c.7488T>C (p.Thr2496=)
c.5637T>C (p.Thr1879=)
c.3327T>C (p.Thr1109=)
n.8026T>C
18g.23915402T>GCA503339716LAMA3c.2931T>G (p.Thr977=)
c.7758T>G (p.Thr2586=)
c.4353T>G (p.Thr1451=)
c.7590T>G (p.Thr2530=)
c.2536T>G
c.2763T>G (p.Thr921=)
n.2336T>G
c.7785T>G (p.Thr2595=)
c.7776T>G (p.Thr2592=)
c.7767T>G (p.Thr2589=)
c.7653T>G (p.Thr2551=)
c.7488T>G (p.Thr2496=)
c.5637T>G (p.Thr1879=)
c.3327T>G (p.Thr1109=)
n.8026T>G
18g.23915403G>ACA402059345LAMA3c.2932G>A (p.Glu978Lys)
c.7759G>A (p.Glu2587Lys)
c.4354G>A (p.Glu1452Lys)
c.7591G>A (p.Glu2531Lys)
c.2537G>A
c.2764G>A (p.Glu922Lys)
n.2337G>A
c.7786G>A (p.Glu2596Lys)
c.7777G>A (p.Glu2593Lys)
c.7768G>A (p.Glu2590Lys)
c.7654G>A (p.Glu2552Lys)
c.7489G>A (p.Glu2497Lys)
c.5638G>A (p.Glu1880Lys)
c.3328G>A (p.Glu1110Lys)
n.8027G>A
18g.23915403G>CCA402059346LAMA3c.2932G>C (p.Glu978Gln)
c.7759G>C (p.Glu2587Gln)
c.4354G>C (p.Glu1452Gln)
c.7591G>C (p.Glu2531Gln)
c.2537G>C
c.2764G>C (p.Glu922Gln)
n.2337G>C
c.7786G>C (p.Glu2596Gln)
c.7777G>C (p.Glu2593Gln)
c.7768G>C (p.Glu2590Gln)
c.7654G>C (p.Glu2552Gln)
c.7489G>C (p.Glu2497Gln)
c.5638G>C (p.Glu1880Gln)
c.3328G>C (p.Glu1110Gln)
n.8027G>C
18g.23915403G>TCA402059347LAMA3c.2932G>T (p.Glu978Ter)
c.7759G>T (p.Glu2587Ter)
c.4354G>T (p.Glu1452Ter)
c.7591G>T (p.Glu2531Ter)
c.2537G>T
c.2764G>T (p.Glu922Ter)
n.2337G>T
c.7786G>T (p.Glu2596Ter)
c.7777G>T (p.Glu2593Ter)
c.7768G>T (p.Glu2590Ter)
c.7654G>T (p.Glu2552Ter)
c.7489G>T (p.Glu2497Ter)
c.5638G>T (p.Glu1880Ter)
c.3328G>T (p.Glu1110Ter)
n.8027G>T
18g.23915404A>CCA402059348LAMA3c.2933A>C (p.Glu978Ala)
c.7760A>C (p.Glu2587Ala)
c.4355A>C (p.Glu1452Ala)
c.7592A>C (p.Glu2531Ala)
c.2538A>C
c.2765A>C (p.Glu922Ala)
n.2338A>C
c.7787A>C (p.Glu2596Ala)
c.7778A>C (p.Glu2593Ala)
c.7769A>C (p.Glu2590Ala)
c.7655A>C (p.Glu2552Ala)
c.7490A>C (p.Glu2497Ala)
c.5639A>C (p.Glu1880Ala)
c.3329A>C (p.Glu1110Ala)
n.8028A>C
18g.23915404A>GCA402059349LAMA3c.2933A>G (p.Glu978Gly)
c.7760A>G (p.Glu2587Gly)
c.4355A>G (p.Glu1452Gly)
c.7592A>G (p.Glu2531Gly)
c.2538A>G
c.2765A>G (p.Glu922Gly)
n.2338A>G
c.7787A>G (p.Glu2596Gly)
c.7778A>G (p.Glu2593Gly)
c.7769A>G (p.Glu2590Gly)
c.7655A>G (p.Glu2552Gly)
c.7490A>G (p.Glu2497Gly)
c.5639A>G (p.Glu1880Gly)
c.3329A>G (p.Glu1110Gly)
n.8028A>G
18g.23915404A>TCA402059350LAMA3c.2933A>T (p.Glu978Val)
c.7760A>T (p.Glu2587Val)
c.4355A>T (p.Glu1452Val)
c.7592A>T (p.Glu2531Val)
c.2538A>T
c.2765A>T (p.Glu922Val)
n.2338A>T
c.7787A>T (p.Glu2596Val)
c.7778A>T (p.Glu2593Val)
c.7769A>T (p.Glu2590Val)
c.7655A>T (p.Glu2552Val)
c.7490A>T (p.Glu2497Val)
c.5639A>T (p.Glu1880Val)
c.3329A>T (p.Glu1110Val)
n.8028A>T
18g.23915405A>CCA402059352LAMA3c.2934A>C (p.Glu978Asp)
c.7761A>C (p.Glu2587Asp)
c.4356A>C (p.Glu1452Asp)
c.7593A>C (p.Glu2531Asp)
c.2539A>C
c.2766A>C (p.Glu922Asp)
n.2339A>C
c.7788A>C (p.Glu2596Asp)
c.7779A>C (p.Glu2593Asp)
c.7770A>C (p.Glu2590Asp)
c.7656A>C (p.Glu2552Asp)
c.7491A>C (p.Glu2497Asp)
c.5640A>C (p.Glu1880Asp)
c.3330A>C (p.Glu1110Asp)
n.8029A>C
18g.23915405A>GCA503339717LAMA3c.2934A>G (p.Glu978=)
c.7761A>G (p.Glu2587=)
c.4356A>G (p.Glu1452=)
c.7593A>G (p.Glu2531=)
c.2539A>G
c.2766A>G (p.Glu922=)
n.2339A>G
c.7788A>G (p.Glu2596=)
c.7779A>G (p.Glu2593=)
c.7770A>G (p.Glu2590=)
c.7656A>G (p.Glu2552=)
c.7491A>G (p.Glu2497=)
c.5640A>G (p.Glu1880=)
c.3330A>G (p.Glu1110=)
n.8029A>G
 ClinVar
18g.23915405A>TCA402059351LAMA3c.2934A>T (p.Glu978Asp)
c.7761A>T (p.Glu2587Asp)
c.4356A>T (p.Glu1452Asp)
c.7593A>T (p.Glu2531Asp)
c.2539A>T
c.2766A>T (p.Glu922Asp)
n.2339A>T
c.7788A>T (p.Glu2596Asp)
c.7779A>T (p.Glu2593Asp)
c.7770A>T (p.Glu2590Asp)
c.7656A>T (p.Glu2552Asp)
c.7491A>T (p.Glu2497Asp)
c.5640A>T (p.Glu1880Asp)
c.3330A>T (p.Glu1110Asp)
n.8029A>T
18g.23915406G>ACA402059353LAMA3c.2935G>A (p.Val979Met)
c.7762G>A (p.Val2588Met)
c.4357G>A (p.Val1453Met)
c.7594G>A (p.Val2532Met)
c.2540G>A
c.2767G>A (p.Val923Met)
n.2340G>A
c.7789G>A (p.Val2597Met)
c.7780G>A (p.Val2594Met)
c.7771G>A (p.Val2591Met)
c.7657G>A (p.Val2553Met)
c.7492G>A (p.Val2498Met)
c.5641G>A (p.Val1881Met)
c.3331G>A (p.Val1111Met)
n.8030G>A
 gnomAD v4
18g.23915406G>CCA402059354LAMA3c.2935G>C (p.Val979Leu)
c.7762G>C (p.Val2588Leu)
c.4357G>C (p.Val1453Leu)
c.7594G>C (p.Val2532Leu)
c.2540G>C
c.2767G>C (p.Val923Leu)
n.2340G>C
c.7789G>C (p.Val2597Leu)
c.7780G>C (p.Val2594Leu)
c.7771G>C (p.Val2591Leu)
c.7657G>C (p.Val2553Leu)
c.7492G>C (p.Val2498Leu)
c.5641G>C (p.Val1881Leu)
c.3331G>C (p.Val1111Leu)
n.8030G>C
18g.23915406G>TCA402059355LAMA3c.2935G>T (p.Val979Leu)
c.7762G>T (p.Val2588Leu)
c.4357G>T (p.Val1453Leu)
c.7594G>T (p.Val2532Leu)
c.2540G>T
c.2767G>T (p.Val923Leu)
n.2340G>T
c.7789G>T (p.Val2597Leu)
c.7780G>T (p.Val2594Leu)
c.7771G>T (p.Val2591Leu)
c.7657G>T (p.Val2553Leu)
c.7492G>T (p.Val2498Leu)
c.5641G>T (p.Val1881Leu)
c.3331G>T (p.Val1111Leu)
n.8030G>T
18g.23915407T>ACA402059356LAMA3c.2936T>A (p.Val979Glu)
c.7763T>A (p.Val2588Glu)
c.4358T>A (p.Val1453Glu)
c.7595T>A (p.Val2532Glu)
c.2541T>A
c.2768T>A (p.Val923Glu)
n.2341T>A
c.7790T>A (p.Val2597Glu)
c.7781T>A (p.Val2594Glu)
c.7772T>A (p.Val2591Glu)
c.7658T>A (p.Val2553Glu)
c.7493T>A (p.Val2498Glu)
c.5642T>A (p.Val1881Glu)
c.3332T>A (p.Val1111Glu)
n.8031T>A
18g.23915407T>CCA402059357LAMA3c.2936T>C (p.Val979Ala)
c.7763T>C (p.Val2588Ala)
c.4358T>C (p.Val1453Ala)
c.7595T>C (p.Val2532Ala)
c.2541T>C
c.2768T>C (p.Val923Ala)
n.2341T>C
c.7790T>C (p.Val2597Ala)
c.7781T>C (p.Val2594Ala)
c.7772T>C (p.Val2591Ala)
c.7658T>C (p.Val2553Ala)
c.7493T>C (p.Val2498Ala)
c.5642T>C (p.Val1881Ala)
c.3332T>C (p.Val1111Ala)
n.8031T>C
18g.23915407T>GCA402059358LAMA3c.2936T>G (p.Val979Gly)
c.7763T>G (p.Val2588Gly)
c.4358T>G (p.Val1453Gly)
c.7595T>G (p.Val2532Gly)
c.2541T>G
c.2768T>G (p.Val923Gly)
n.2341T>G
c.7790T>G (p.Val2597Gly)
c.7781T>G (p.Val2594Gly)
c.7772T>G (p.Val2591Gly)
c.7658T>G (p.Val2553Gly)
c.7493T>G (p.Val2498Gly)
c.5642T>G (p.Val1881Gly)
c.3332T>G (p.Val1111Gly)
n.8031T>G
18g.23915408G>ACA503339721LAMA3c.2937G>A (p.Val979=)
c.7764G>A (p.Val2588=)
c.4359G>A (p.Val1453=)
c.7596G>A (p.Val2532=)
c.2542G>A
c.2769G>A (p.Val923=)
n.2342G>A
c.7791G>A (p.Val2597=)
c.7782G>A (p.Val2594=)
c.7773G>A (p.Val2591=)
c.7659G>A (p.Val2553=)
c.7494G>A (p.Val2498=)
c.5643G>A (p.Val1881=)
c.3333G>A (p.Val1111=)
n.8032G>A
18g.23915408G>CCA503339720LAMA3c.2937G>C (p.Val979=)
c.7764G>C (p.Val2588=)
c.4359G>C (p.Val1453=)
c.7596G>C (p.Val2532=)
c.2542G>C
c.2769G>C (p.Val923=)
n.2342G>C
c.7791G>C (p.Val2597=)
c.7782G>C (p.Val2594=)
c.7773G>C (p.Val2591=)
c.7659G>C (p.Val2553=)
c.7494G>C (p.Val2498=)
c.5643G>C (p.Val1881=)
c.3333G>C (p.Val1111=)
n.8032G>C
18g.23915408G>TCA503339718LAMA3c.2937G>T (p.Val979=)
c.7764G>T (p.Val2588=)
c.4359G>T (p.Val1453=)
c.7596G>T (p.Val2532=)
c.2542G>T
c.2769G>T (p.Val923=)
n.2342G>T
c.7791G>T (p.Val2597=)
c.7782G>T (p.Val2594=)
c.7773G>T (p.Val2591=)
c.7659G>T (p.Val2553=)
c.7494G>T (p.Val2498=)
c.5643G>T (p.Val1881=)
c.3333G>T (p.Val1111=)
n.8032G>T
18g.23915409G>ACA402059361LAMA3c.2938G>A (p.Glu980Lys)
c.7765G>A (p.Glu2589Lys)
c.4360G>A (p.Glu1454Lys)
c.7597G>A (p.Glu2533Lys)
c.2543G>A
c.2770G>A (p.Glu924Lys)
n.2343G>A
c.7792G>A (p.Glu2598Lys)
c.7783G>A (p.Glu2595Lys)
c.7774G>A (p.Glu2592Lys)
c.7660G>A (p.Glu2554Lys)
c.7495G>A (p.Glu2499Lys)
c.5644G>A (p.Glu1882Lys)
c.3334G>A (p.Glu1112Lys)
n.8033G>A
18g.23915409G>CCA402059359LAMA3c.2938G>C (p.Glu980Gln)
c.7765G>C (p.Glu2589Gln)
c.4360G>C (p.Glu1454Gln)
c.7597G>C (p.Glu2533Gln)
c.2543G>C
c.2770G>C (p.Glu924Gln)
n.2343G>C
c.7792G>C (p.Glu2598Gln)
c.7783G>C (p.Glu2595Gln)
c.7774G>C (p.Glu2592Gln)
c.7660G>C (p.Glu2554Gln)
c.7495G>C (p.Glu2499Gln)
c.5644G>C (p.Glu1882Gln)
c.3334G>C (p.Glu1112Gln)
n.8033G>C
18g.23915409G>TCA402059360LAMA3c.2938G>T (p.Glu980Ter)
c.7765G>T (p.Glu2589Ter)
c.4360G>T (p.Glu1454Ter)
c.7597G>T (p.Glu2533Ter)
c.2543G>T
c.2770G>T (p.Glu924Ter)
n.2343G>T
c.7792G>T (p.Glu2598Ter)
c.7783G>T (p.Glu2595Ter)
c.7774G>T (p.Glu2592Ter)
c.7660G>T (p.Glu2554Ter)
c.7495G>T (p.Glu2499Ter)
c.5644G>T (p.Glu1882Ter)
c.3334G>T (p.Glu1112Ter)
n.8033G>T
18g.23915410A>CCA402059362LAMA3c.2939A>C (p.Glu980Ala)
c.7766A>C (p.Glu2589Ala)
c.4361A>C (p.Glu1454Ala)
c.7598A>C (p.Glu2533Ala)
c.2544A>C
c.2771A>C (p.Glu924Ala)
n.2344A>C
c.7793A>C (p.Glu2598Ala)
c.7784A>C (p.Glu2595Ala)
c.7775A>C (p.Glu2592Ala)
c.7661A>C (p.Glu2554Ala)
c.7496A>C (p.Glu2499Ala)
c.5645A>C (p.Glu1882Ala)
c.3335A>C (p.Glu1112Ala)
n.8034A>C
18g.23915410A>GCA402059363LAMA3c.2939A>G (p.Glu980Gly)
c.7766A>G (p.Glu2589Gly)
c.4361A>G (p.Glu1454Gly)
c.7598A>G (p.Glu2533Gly)
c.2544A>G
c.2771A>G (p.Glu924Gly)
n.2344A>G
c.7793A>G (p.Glu2598Gly)
c.7784A>G (p.Glu2595Gly)
c.7775A>G (p.Glu2592Gly)
c.7661A>G (p.Glu2554Gly)
c.7496A>G (p.Glu2499Gly)
c.5645A>G (p.Glu1882Gly)
c.3335A>G (p.Glu1112Gly)
n.8034A>G
18g.23915410A>TCA402059364LAMA3c.2939A>T (p.Glu980Val)
c.7766A>T (p.Glu2589Val)
c.4361A>T (p.Glu1454Val)
c.7598A>T (p.Glu2533Val)
c.2544A>T
c.2771A>T (p.Glu924Val)
n.2344A>T
c.7793A>T (p.Glu2598Val)
c.7784A>T (p.Glu2595Val)
c.7775A>T (p.Glu2592Val)
c.7661A>T (p.Glu2554Val)
c.7496A>T (p.Glu2499Val)
c.5645A>T (p.Glu1882Val)
c.3335A>T (p.Glu1112Val)
n.8034A>T
18g.23915411G>ACA503339722LAMA3c.2940G>A (p.Glu980=)
c.7767G>A (p.Glu2589=)
c.4362G>A (p.Glu1454=)
c.7599G>A (p.Glu2533=)
c.2545G>A
c.2772G>A (p.Glu924=)
n.2345G>A
c.7794G>A (p.Glu2598=)
c.7785G>A (p.Glu2595=)
c.7776G>A (p.Glu2592=)
c.7662G>A (p.Glu2554=)
c.7497G>A (p.Glu2499=)
c.5646G>A (p.Glu1882=)
c.3336G>A (p.Glu1112=)
n.8035G>A
 ClinVar dbSNP
18g.23915411G>CCA402059365LAMA3c.2940G>C (p.Glu980Asp)
c.7767G>C (p.Glu2589Asp)
c.4362G>C (p.Glu1454Asp)
c.7599G>C (p.Glu2533Asp)
c.2545G>C
c.2772G>C (p.Glu924Asp)
n.2345G>C
c.7794G>C (p.Glu2598Asp)
c.7785G>C (p.Glu2595Asp)
c.7776G>C (p.Glu2592Asp)
c.7662G>C (p.Glu2554Asp)
c.7497G>C (p.Glu2499Asp)
c.5646G>C (p.Glu1882Asp)
c.3336G>C (p.Glu1112Asp)
n.8035G>C
18g.23915411G=CA2290329006LAMA3c.2940G= (p.Glu980=)
c.7767G= (p.Glu2589=)
c.4362G= (p.Glu1454=)
c.7599G= (p.Glu2533=)
c.2545G=
c.2772G= (p.Glu924=)
n.2345G=
c.7794G= (p.Glu2598=)
c.7785G= (p.Glu2595=)
c.7776G= (p.Glu2592=)
c.7662G= (p.Glu2554=)
c.7497G= (p.Glu2499=)
c.5646G= (p.Glu1882=)
c.3336G= (p.Glu1112=)
n.8035G=
18g.23915411G>TCA402059366LAMA3c.2940G>T (p.Glu980Asp)
c.7767G>T (p.Glu2589Asp)
c.4362G>T (p.Glu1454Asp)
c.7599G>T (p.Glu2533Asp)
c.2545G>T
c.2772G>T (p.Glu924Asp)
n.2345G>T
c.7794G>T (p.Glu2598Asp)
c.7785G>T (p.Glu2595Asp)
c.7776G>T (p.Glu2592Asp)
c.7662G>T (p.Glu2554Asp)
c.7497G>T (p.Glu2499Asp)
c.5646G>T (p.Glu1882Asp)
c.3336G>T (p.Glu1112Asp)
n.8035G>T
18g.23915412C>ACA402059367LAMA3c.2941C>A (p.Pro981Thr)
c.7768C>A (p.Pro2590Thr)
c.4363C>A (p.Pro1455Thr)
c.7600C>A (p.Pro2534Thr)
c.2546C>A
c.2773C>A (p.Pro925Thr)
n.2346C>A
c.7795C>A (p.Pro2599Thr)
c.7786C>A (p.Pro2596Thr)
c.7777C>A (p.Pro2593Thr)
c.7663C>A (p.Pro2555Thr)
c.7498C>A (p.Pro2500Thr)
c.5647C>A (p.Pro1883Thr)
c.3337C>A (p.Pro1113Thr)
n.8036C>A
 dbSNP
18g.23915412C=CA2290329008LAMA3c.2941C= (p.Pro981=)
c.7768C= (p.Pro2590=)
c.4363C= (p.Pro1455=)
c.7600C= (p.Pro2534=)
c.2546C=
c.2773C= (p.Pro925=)
n.2346C=
c.7795C= (p.Pro2599=)
c.7786C= (p.Pro2596=)
c.7777C= (p.Pro2593=)
c.7663C= (p.Pro2555=)
c.7498C= (p.Pro2500=)
c.5647C= (p.Pro1883=)
c.3337C= (p.Pro1113=)
n.8036C=
18g.23915412C>GCA402059369LAMA3c.2941C>G (p.Pro981Ala)
c.7768C>G (p.Pro2590Ala)
c.4363C>G (p.Pro1455Ala)
c.7600C>G (p.Pro2534Ala)
c.2546C>G
c.2773C>G (p.Pro925Ala)
n.2346C>G
c.7795C>G (p.Pro2599Ala)
c.7786C>G (p.Pro2596Ala)
c.7777C>G (p.Pro2593Ala)
c.7663C>G (p.Pro2555Ala)
c.7498C>G (p.Pro2500Ala)
c.5647C>G (p.Pro1883Ala)
c.3337C>G (p.Pro1113Ala)
n.8036C>G
18g.23915412C>TCA402059368LAMA3c.2941C>T (p.Pro981Ser)
c.7768C>T (p.Pro2590Ser)
c.4363C>T (p.Pro1455Ser)
c.7600C>T (p.Pro2534Ser)
c.2546C>T
c.2773C>T (p.Pro925Ser)
n.2346C>T
c.7795C>T (p.Pro2599Ser)
c.7786C>T (p.Pro2596Ser)
c.7777C>T (p.Pro2593Ser)
c.7663C>T (p.Pro2555Ser)
c.7498C>T (p.Pro2500Ser)
c.5647C>T (p.Pro1883Ser)
c.3337C>T (p.Pro1113Ser)
n.8036C>T
 dbSNP gnomAD v3 gnomAD v4
18g.23915413C>ACA402059370LAMA3c.2942C>A (p.Pro981His)
c.7769C>A (p.Pro2590His)
c.4364C>A (p.Pro1455His)
c.7601C>A (p.Pro2534His)
c.2547C>A
c.2774C>A (p.Pro925His)
n.2347C>A
c.7796C>A (p.Pro2599His)
c.7787C>A (p.Pro2596His)
c.7778C>A (p.Pro2593His)
c.7664C>A (p.Pro2555His)
c.7499C>A (p.Pro2500His)
c.5648C>A (p.Pro1883His)
c.3338C>A (p.Pro1113His)
n.8037C>A
18g.23915413C>GCA402059371LAMA3c.2942C>G (p.Pro981Arg)
c.7769C>G (p.Pro2590Arg)
c.4364C>G (p.Pro1455Arg)
c.7601C>G (p.Pro2534Arg)
c.2547C>G
c.2774C>G (p.Pro925Arg)
n.2347C>G
c.7796C>G (p.Pro2599Arg)
c.7787C>G (p.Pro2596Arg)
c.7778C>G (p.Pro2593Arg)
c.7664C>G (p.Pro2555Arg)
c.7499C>G (p.Pro2500Arg)
c.5648C>G (p.Pro1883Arg)
c.3338C>G (p.Pro1113Arg)
n.8037C>G
18g.23915413C>TCA402059372LAMA3c.2942C>T (p.Pro981Leu)
c.7769C>T (p.Pro2590Leu)
c.4364C>T (p.Pro1455Leu)
c.7601C>T (p.Pro2534Leu)
c.2547C>T
c.2774C>T (p.Pro925Leu)
n.2347C>T
c.7796C>T (p.Pro2599Leu)
c.7787C>T (p.Pro2596Leu)
c.7778C>T (p.Pro2593Leu)
c.7664C>T (p.Pro2555Leu)
c.7499C>T (p.Pro2500Leu)
c.5648C>T (p.Pro1883Leu)
c.3338C>T (p.Pro1113Leu)
n.8037C>T
18g.23915414T>ACA503339724LAMA3c.2943T>A (p.Pro981=)
c.7770T>A (p.Pro2590=)
c.4365T>A (p.Pro1455=)
c.7602T>A (p.Pro2534=)
c.2548T>A
c.2775T>A (p.Pro925=)
n.2348T>A
c.7797T>A (p.Pro2599=)
c.7788T>A (p.Pro2596=)
c.7779T>A (p.Pro2593=)
c.7665T>A (p.Pro2555=)
c.7500T>A (p.Pro2500=)
c.5649T>A (p.Pro1883=)
c.3339T>A (p.Pro1113=)
n.8038T>A
18g.23915414T>CCA503339725LAMA3c.2943T>C (p.Pro981=)
c.7770T>C (p.Pro2590=)
c.4365T>C (p.Pro1455=)
c.7602T>C (p.Pro2534=)
c.2548T>C
c.2775T>C (p.Pro925=)
n.2348T>C
c.7797T>C (p.Pro2599=)
c.7788T>C (p.Pro2596=)
c.7779T>C (p.Pro2593=)
c.7665T>C (p.Pro2555=)
c.7500T>C (p.Pro2500=)
c.5649T>C (p.Pro1883=)
c.3339T>C (p.Pro1113=)
n.8038T>C
 gnomAD v4
18g.23915414T>GCA503339726LAMA3c.2943T>G (p.Pro981=)
c.7770T>G (p.Pro2590=)
c.4365T>G (p.Pro1455=)
c.7602T>G (p.Pro2534=)
c.2548T>G
c.2775T>G (p.Pro925=)
n.2348T>G
c.7797T>G (p.Pro2599=)
c.7788T>G (p.Pro2596=)
c.7779T>G (p.Pro2593=)
c.7665T>G (p.Pro2555=)
c.7500T>G (p.Pro2500=)
c.5649T>G (p.Pro1883=)
c.3339T>G (p.Pro1113=)
n.8038T>G
18g.23915415T>ACA402059373LAMA3c.2944T>A (p.Cys982Ser)
c.7771T>A (p.Cys2591Ser)
c.4366T>A (p.Cys1456Ser)
c.7603T>A (p.Cys2535Ser)
c.2549T>A
c.2776T>A (p.Cys926Ser)
n.2349T>A
c.7798T>A (p.Cys2600Ser)
c.7789T>A (p.Cys2597Ser)
c.7780T>A (p.Cys2594Ser)
c.7666T>A (p.Cys2556Ser)
c.7501T>A (p.Cys2501Ser)
c.5650T>A (p.Cys1884Ser)
c.3340T>A (p.Cys1114Ser)
n.8039T>A
18g.23915415T>CCA402059374LAMA3c.2944T>C (p.Cys982Arg)
c.7771T>C (p.Cys2591Arg)
c.4366T>C (p.Cys1456Arg)
c.7603T>C (p.Cys2535Arg)
c.2549T>C
c.2776T>C (p.Cys926Arg)
n.2349T>C
c.7798T>C (p.Cys2600Arg)
c.7789T>C (p.Cys2597Arg)
c.7780T>C (p.Cys2594Arg)
c.7666T>C (p.Cys2556Arg)
c.7501T>C (p.Cys2501Arg)
c.5650T>C (p.Cys1884Arg)
c.3340T>C (p.Cys1114Arg)
n.8039T>C
18g.23915415T>GCA402059375LAMA3c.2944T>G (p.Cys982Gly)
c.7771T>G (p.Cys2591Gly)
c.4366T>G (p.Cys1456Gly)
c.7603T>G (p.Cys2535Gly)
c.2549T>G
c.2776T>G (p.Cys926Gly)
n.2349T>G
c.7798T>G (p.Cys2600Gly)
c.7789T>G (p.Cys2597Gly)
c.7780T>G (p.Cys2594Gly)
c.7666T>G (p.Cys2556Gly)
c.7501T>G (p.Cys2501Gly)
c.5650T>G (p.Cys1884Gly)
c.3340T>G (p.Cys1114Gly)
n.8039T>G
18g.23915416G>ACA402059376LAMA3c.2945G>A (p.Cys982Tyr)
c.7772G>A (p.Cys2591Tyr)
c.4367G>A (p.Cys1456Tyr)
c.7604G>A (p.Cys2535Tyr)
c.2550G>A
c.2777G>A (p.Cys926Tyr)
n.2350G>A
c.7799G>A (p.Cys2600Tyr)
c.7790G>A (p.Cys2597Tyr)
c.7781G>A (p.Cys2594Tyr)
c.7667G>A (p.Cys2556Tyr)
c.7502G>A (p.Cys2501Tyr)
c.5651G>A (p.Cys1884Tyr)
c.3341G>A (p.Cys1114Tyr)
n.8040G>A
 COSMIC
18g.23915416G>CCA402059377LAMA3c.2945G>C (p.Cys982Ser)
c.7772G>C (p.Cys2591Ser)
c.4367G>C (p.Cys1456Ser)
c.7604G>C (p.Cys2535Ser)
c.2550G>C
c.2777G>C (p.Cys926Ser)
n.2350G>C
c.7799G>C (p.Cys2600Ser)
c.7790G>C (p.Cys2597Ser)
c.7781G>C (p.Cys2594Ser)
c.7667G>C (p.Cys2556Ser)
c.7502G>C (p.Cys2501Ser)
c.5651G>C (p.Cys1884Ser)
c.3341G>C (p.Cys1114Ser)
n.8040G>C
18g.23915416G>TCA402059378LAMA3c.2945G>T (p.Cys982Phe)
c.7772G>T (p.Cys2591Phe)
c.4367G>T (p.Cys1456Phe)
c.7604G>T (p.Cys2535Phe)
c.2550G>T
c.2777G>T (p.Cys926Phe)
n.2350G>T
c.7799G>T (p.Cys2600Phe)
c.7790G>T (p.Cys2597Phe)
c.7781G>T (p.Cys2594Phe)
c.7667G>T (p.Cys2556Phe)
c.7502G>T (p.Cys2501Phe)
c.5651G>T (p.Cys1884Phe)
c.3341G>T (p.Cys1114Phe)
n.8040G>T
18g.23915417T>ACA402059379LAMA3c.2946T>A (p.Cys982Ter)
c.7773T>A (p.Cys2591Ter)
c.4368T>A (p.Cys1456Ter)
c.7605T>A (p.Cys2535Ter)
c.2551T>A
c.2778T>A (p.Cys926Ter)
n.2351T>A
c.7800T>A (p.Cys2600Ter)
c.7791T>A (p.Cys2597Ter)
c.7782T>A (p.Cys2594Ter)
c.7668T>A (p.Cys2556Ter)
c.7503T>A (p.Cys2501Ter)
c.5652T>A (p.Cys1884Ter)
c.3342T>A (p.Cys1114Ter)
n.8041T>A
18g.23915417T>CCA503339727LAMA3c.2946T>C (p.Cys982=)
c.7773T>C (p.Cys2591=)
c.4368T>C (p.Cys1456=)
c.7605T>C (p.Cys2535=)
c.2551T>C
c.2778T>C (p.Cys926=)
n.2351T>C
c.7800T>C (p.Cys2600=)
c.7791T>C (p.Cys2597=)
c.7782T>C (p.Cys2594=)
c.7668T>C (p.Cys2556=)
c.7503T>C (p.Cys2501=)
c.5652T>C (p.Cys1884=)
c.3342T>C (p.Cys1114=)
n.8041T>C
 ClinVar dbSNP gnomAD v4
18g.23915417T>GCA402059380LAMA3c.2946T>G (p.Cys982Trp)
c.7773T>G (p.Cys2591Trp)
c.4368T>G (p.Cys1456Trp)
c.7605T>G (p.Cys2535Trp)
c.2551T>G
c.2778T>G (p.Cys926Trp)
n.2351T>G
c.7800T>G (p.Cys2600Trp)
c.7791T>G (p.Cys2597Trp)
c.7782T>G (p.Cys2594Trp)
c.7668T>G (p.Cys2556Trp)
c.7503T>G (p.Cys2501Trp)
c.5652T>G (p.Cys1884Trp)
c.3342T>G (p.Cys1114Trp)
n.8041T>G
18g.23915417T=CA2290329010LAMA3c.2946T= (p.Cys982=)
c.7773T= (p.Cys2591=)
c.4368T= (p.Cys1456=)
c.7605T= (p.Cys2535=)
c.2551T=
c.2778T= (p.Cys926=)
n.2351T=
c.7800T= (p.Cys2600=)
c.7791T= (p.Cys2597=)
c.7782T= (p.Cys2594=)
c.7668T= (p.Cys2556=)
c.7503T= (p.Cys2501=)
c.5652T= (p.Cys1884=)
c.3342T= (p.Cys1114=)
n.8041T=
18g.23915418A=CA2290329011LAMA3c.2947A= (p.Arg983=)
c.7774A= (p.Arg2592=)
c.4369A= (p.Arg1457=)
c.7606A= (p.Arg2536=)
c.2552A=
c.2779A= (p.Arg927=)
n.2352A=
c.7801A= (p.Arg2601=)
c.7792A= (p.Arg2598=)
c.7783A= (p.Arg2595=)
c.7669A= (p.Arg2557=)
c.7504A= (p.Arg2502=)
c.5653A= (p.Arg1885=)
c.3343A= (p.Arg1115=)
n.8042A=
18g.23915418A>CCA503339728LAMA3c.2947A>C (p.Arg983=)
c.7774A>C (p.Arg2592=)
c.4369A>C (p.Arg1457=)
c.7606A>C (p.Arg2536=)
c.2552A>C
c.2779A>C (p.Arg927=)
n.2352A>C
c.7801A>C (p.Arg2601=)
c.7792A>C (p.Arg2598=)
c.7783A>C (p.Arg2595=)
c.7669A>C (p.Arg2557=)
c.7504A>C (p.Arg2502=)
c.5653A>C (p.Arg1885=)
c.3343A>C (p.Arg1115=)
n.8042A>C
18g.23915418A>GCA402059382LAMA3c.2947A>G (p.Arg983Gly)
c.7774A>G (p.Arg2592Gly)
c.4369A>G (p.Arg1457Gly)
c.7606A>G (p.Arg2536Gly)
c.2552A>G
c.2779A>G (p.Arg927Gly)
n.2352A>G
c.7801A>G (p.Arg2601Gly)
c.7792A>G (p.Arg2598Gly)
c.7783A>G (p.Arg2595Gly)
c.7669A>G (p.Arg2557Gly)
c.7504A>G (p.Arg2502Gly)
c.5653A>G (p.Arg1885Gly)
c.3343A>G (p.Arg1115Gly)
n.8042A>G
 dbSNP
18g.23915418A>TCA402059381LAMA3c.2947A>T (p.Arg983Ter)
c.7774A>T (p.Arg2592Ter)
c.4369A>T (p.Arg1457Ter)
c.7606A>T (p.Arg2536Ter)
c.2552A>T
c.2779A>T (p.Arg927Ter)
n.2352A>T
c.7801A>T (p.Arg2601Ter)
c.7792A>T (p.Arg2598Ter)
c.7783A>T (p.Arg2595Ter)
c.7669A>T (p.Arg2557Ter)
c.7504A>T (p.Arg2502Ter)
c.5653A>T (p.Arg1885Ter)
c.3343A>T (p.Arg1115Ter)
n.8042A>T
18g.23915419G>ACA402059383LAMA3c.2948G>A (p.Arg983Lys)
c.7775G>A (p.Arg2592Lys)
c.4370G>A (p.Arg1457Lys)
c.7607G>A (p.Arg2536Lys)
c.2553G>A
c.2780G>A (p.Arg927Lys)
n.2353G>A
c.7802G>A (p.Arg2601Lys)
c.7793G>A (p.Arg2598Lys)
c.7784G>A (p.Arg2595Lys)
c.7670G>A (p.Arg2557Lys)
c.7505G>A (p.Arg2502Lys)
c.5654G>A (p.Arg1885Lys)
c.3344G>A (p.Arg1115Lys)
n.8043G>A
 COSMIC COSMIC
18g.23915419G>CCA402059385LAMA3c.2948G>C (p.Arg983Thr)
c.7775G>C (p.Arg2592Thr)
c.4370G>C (p.Arg1457Thr)
c.7607G>C (p.Arg2536Thr)
c.2553G>C
c.2780G>C (p.Arg927Thr)
n.2353G>C
c.7802G>C (p.Arg2601Thr)
c.7793G>C (p.Arg2598Thr)
c.7784G>C (p.Arg2595Thr)
c.7670G>C (p.Arg2557Thr)
c.7505G>C (p.Arg2502Thr)
c.5654G>C (p.Arg1885Thr)
c.3344G>C (p.Arg1115Thr)
n.8043G>C
18g.23915419G>TCA402059384LAMA3c.2948G>T (p.Arg983Ile)
c.7775G>T (p.Arg2592Ile)
c.4370G>T (p.Arg1457Ile)
c.7607G>T (p.Arg2536Ile)
c.2553G>T
c.2780G>T (p.Arg927Ile)
n.2353G>T
c.7802G>T (p.Arg2601Ile)
c.7793G>T (p.Arg2598Ile)
c.7784G>T (p.Arg2595Ile)
c.7670G>T (p.Arg2557Ile)
c.7505G>T (p.Arg2502Ile)
c.5654G>T (p.Arg1885Ile)
c.3344G>T (p.Arg1115Ile)
n.8043G>T
18g.23915420A>CCA402059386LAMA3c.2949A>C (p.Arg983Ser)
c.7776A>C (p.Arg2592Ser)
c.4371A>C (p.Arg1457Ser)
c.7608A>C (p.Arg2536Ser)
c.2554A>C
c.2781A>C (p.Arg927Ser)
n.2354A>C
c.7803A>C (p.Arg2601Ser)
c.7794A>C (p.Arg2598Ser)
c.7785A>C (p.Arg2595Ser)
c.7671A>C (p.Arg2557Ser)
c.7506A>C (p.Arg2502Ser)
c.5655A>C (p.Arg1885Ser)
c.3345A>C (p.Arg1115Ser)
n.8044A>C
18g.23915420A>GCA503339730LAMA3c.2949A>G (p.Arg983=)
c.7776A>G (p.Arg2592=)
c.4371A>G (p.Arg1457=)
c.7608A>G (p.Arg2536=)
c.2554A>G
c.2781A>G (p.Arg927=)
n.2354A>G
c.7803A>G (p.Arg2601=)
c.7794A>G (p.Arg2598=)
c.7785A>G (p.Arg2595=)
c.7671A>G (p.Arg2557=)
c.7506A>G (p.Arg2502=)
c.5655A>G (p.Arg1885=)
c.3345A>G (p.Arg1115=)
n.8044A>G
18g.23915420A>TCA402059387LAMA3c.2949A>T (p.Arg983Ser)
c.7776A>T (p.Arg2592Ser)
c.4371A>T (p.Arg1457Ser)
c.7608A>T (p.Arg2536Ser)
c.2554A>T
c.2781A>T (p.Arg927Ser)
n.2354A>T
c.7803A>T (p.Arg2601Ser)
c.7794A>T (p.Arg2598Ser)
c.7785A>T (p.Arg2595Ser)
c.7671A>T (p.Arg2557Ser)
c.7506A>T (p.Arg2502Ser)
c.5655A>T (p.Arg1885Ser)
c.3345A>T (p.Arg1115Ser)
n.8044A>T
18g.23915421A>CCA503339731LAMA3c.2950A>C (p.Arg984=)
c.7777A>C (p.Arg2593=)
c.4372A>C (p.Arg1458=)
c.7609A>C (p.Arg2537=)
c.2555A>C
c.2782A>C (p.Arg928=)
n.2355A>C
c.7804A>C (p.Arg2602=)
c.7795A>C (p.Arg2599=)
c.7786A>C (p.Arg2596=)
c.7672A>C (p.Arg2558=)
c.7507A>C (p.Arg2503=)
c.5656A>C (p.Arg1886=)
c.3346A>C (p.Arg1116=)
n.8045A>C
18g.23915421A>GCA402059388LAMA3c.2950A>G (p.Arg984Gly)
c.7777A>G (p.Arg2593Gly)
c.4372A>G (p.Arg1458Gly)
c.7609A>G (p.Arg2537Gly)
c.2555A>G
c.2782A>G (p.Arg928Gly)
n.2355A>G
c.7804A>G (p.Arg2602Gly)
c.7795A>G (p.Arg2599Gly)
c.7786A>G (p.Arg2596Gly)
c.7672A>G (p.Arg2558Gly)
c.7507A>G (p.Arg2503Gly)
c.5656A>G (p.Arg1886Gly)
c.3346A>G (p.Arg1116Gly)
n.8045A>G
18g.23915421A>TCA402059389LAMA3c.2950A>T (p.Arg984Trp)
c.7777A>T (p.Arg2593Trp)
c.4372A>T (p.Arg1458Trp)
c.7609A>T (p.Arg2537Trp)
c.2555A>T
c.2782A>T (p.Arg928Trp)
n.2355A>T
c.7804A>T (p.Arg2602Trp)
c.7795A>T (p.Arg2599Trp)
c.7786A>T (p.Arg2596Trp)
c.7672A>T (p.Arg2558Trp)
c.7507A>T (p.Arg2503Trp)
c.5656A>T (p.Arg1886Trp)
c.3346A>T (p.Arg1116Trp)
n.8045A>T
18g.23915422G>ACA402059390LAMA3c.2951G>A (p.Arg984Lys)
c.7778G>A (p.Arg2593Lys)
c.4373G>A (p.Arg1458Lys)
c.7610G>A (p.Arg2537Lys)
c.2556G>A
c.2783G>A (p.Arg928Lys)
n.2356G>A
c.7805G>A (p.Arg2602Lys)
c.7796G>A (p.Arg2599Lys)
c.7787G>A (p.Arg2596Lys)
c.7673G>A (p.Arg2558Lys)
c.7508G>A (p.Arg2503Lys)
c.5657G>A (p.Arg1886Lys)
c.3347G>A (p.Arg1116Lys)
n.8046G>A
 dbSNP
18g.23915422G>CCA402059391LAMA3c.2951G>C (p.Arg984Thr)
c.7778G>C (p.Arg2593Thr)
c.4373G>C (p.Arg1458Thr)
c.7610G>C (p.Arg2537Thr)
c.2556G>C
c.2783G>C (p.Arg928Thr)
n.2356G>C
c.7805G>C (p.Arg2602Thr)
c.7796G>C (p.Arg2599Thr)
c.7787G>C (p.Arg2596Thr)
c.7673G>C (p.Arg2558Thr)
c.7508G>C (p.Arg2503Thr)
c.5657G>C (p.Arg1886Thr)
c.3347G>C (p.Arg1116Thr)
n.8046G>C
18g.23915422G=CA2290329013LAMA3c.2951G= (p.Arg984=)
c.7778G= (p.Arg2593=)
c.4373G= (p.Arg1458=)
c.7610G= (p.Arg2537=)
c.2556G=
c.2783G= (p.Arg928=)
n.2356G=
c.7805G= (p.Arg2602=)
c.7796G= (p.Arg2599=)
c.7787G= (p.Arg2596=)
c.7673G= (p.Arg2558=)
c.7508G= (p.Arg2503=)
c.5657G= (p.Arg1886=)
c.3347G= (p.Arg1116=)
n.8046G=
18g.23915422G>TCA402059392LAMA3c.2951G>T (p.Arg984Met)
c.7778G>T (p.Arg2593Met)
c.4373G>T (p.Arg1458Met)
c.7610G>T (p.Arg2537Met)
c.2556G>T
c.2783G>T (p.Arg928Met)
n.2356G>T
c.7805G>T (p.Arg2602Met)
c.7796G>T (p.Arg2599Met)
c.7787G>T (p.Arg2596Met)
c.7673G>T (p.Arg2558Met)
c.7508G>T (p.Arg2503Met)
c.5657G>T (p.Arg1886Met)
c.3347G>T (p.Arg1116Met)
n.8046G>T
 gnomAD v4
18g.23915423G>ACA402059393LAMA3c.2951+1G>A (n.2951+1G>A)
c.7778+1G>A (n.7778+1G>A)
c.4373+1G>A (n.4373+1G>A)
c.7610+1G>A (n.7610+1G>A)
c.2556+1G>A
c.2783+1G>A (n.2783+1G>A)
n.2356+1G>A
c.7805+1G>A (n.7805+1G>A)
c.7796+1G>A (n.7796+1G>A)
c.7787+1G>A (n.7787+1G>A)
c.7673+1G>A (n.7673+1G>A)
c.7508+1G>A (n.7508+1G>A)
c.5657+1G>A (n.5657+1G>A)
c.3347+1G>A (n.3347+1G>A)
n.8046+1G>A
 ClinVar dbSNP
18g.23915423G>CCA402059394LAMA3c.2951+1G>C (n.2951+1G>C)
c.7778+1G>C (n.7778+1G>C)
c.4373+1G>C (n.4373+1G>C)
c.7610+1G>C (n.7610+1G>C)
c.2556+1G>C
c.2783+1G>C (n.2783+1G>C)
n.2356+1G>C
c.7805+1G>C (n.7805+1G>C)
c.7796+1G>C (n.7796+1G>C)
c.7787+1G>C (n.7787+1G>C)
c.7673+1G>C (n.7673+1G>C)
c.7508+1G>C (n.7508+1G>C)
c.5657+1G>C (n.5657+1G>C)
c.3347+1G>C (n.3347+1G>C)
n.8046+1G>C
18g.23915423G>TCA402059395LAMA3c.2951+1G>T (n.2951+1G>T)
c.7778+1G>T (n.7778+1G>T)
c.4373+1G>T (n.4373+1G>T)
c.7610+1G>T (n.7610+1G>T)
c.2556+1G>T
c.2783+1G>T (n.2783+1G>T)
n.2356+1G>T
c.7805+1G>T (n.7805+1G>T)
c.7796+1G>T (n.7796+1G>T)
c.7787+1G>T (n.7787+1G>T)
c.7673+1G>T (n.7673+1G>T)
c.7508+1G>T (n.7508+1G>T)
c.5657+1G>T (n.5657+1G>T)
c.3347+1G>T (n.3347+1G>T)
n.8046+1G>T
18g.23915424T>ACA402059396LAMA3c.2951+2T>A (n.2951+2T>A)
c.7778+2T>A (n.7778+2T>A)
c.4373+2T>A (n.4373+2T>A)
c.7610+2T>A (n.7610+2T>A)
c.2556+2T>A
c.2783+2T>A (n.2783+2T>A)
n.2356+2T>A
c.7805+2T>A (n.7805+2T>A)
c.7796+2T>A (n.7796+2T>A)
c.7787+2T>A (n.7787+2T>A)
c.7673+2T>A (n.7673+2T>A)
c.7508+2T>A (n.7508+2T>A)
c.5657+2T>A (n.5657+2T>A)
c.3347+2T>A (n.3347+2T>A)
n.8046+2T>A
18g.23915424T>CCA402059397LAMA3c.2951+2T>C (n.2951+2T>C)
c.7778+2T>C (n.7778+2T>C)
c.4373+2T>C (n.4373+2T>C)
c.7610+2T>C (n.7610+2T>C)
c.2556+2T>C
c.2783+2T>C (n.2783+2T>C)
n.2356+2T>C
c.7805+2T>C (n.7805+2T>C)
c.7796+2T>C (n.7796+2T>C)
c.7787+2T>C (n.7787+2T>C)
c.7673+2T>C (n.7673+2T>C)
c.7508+2T>C (n.7508+2T>C)
c.5657+2T>C (n.5657+2T>C)
c.3347+2T>C (n.3347+2T>C)
n.8046+2T>C
18g.23915424T>GCA402059398LAMA3c.2951+2T>G (n.2951+2T>G)
c.7778+2T>G (n.7778+2T>G)
c.4373+2T>G (n.4373+2T>G)
c.7610+2T>G (n.7610+2T>G)
c.2556+2T>G
c.2783+2T>G (n.2783+2T>G)
n.2356+2T>G
c.7805+2T>G (n.7805+2T>G)
c.7796+2T>G (n.7796+2T>G)
c.7787+2T>G (n.7787+2T>G)
c.7673+2T>G (n.7673+2T>G)
c.7508+2T>G (n.7508+2T>G)
c.5657+2T>G (n.5657+2T>G)
c.3347+2T>G (n.3347+2T>G)
n.8046+2T>G
 gnomAD v4
18g.23915425A=CA2290329014LAMA3c.2951+3A= (n.2951+3A=)
c.7778+3A= (n.7778+3A=)
c.4373+3A= (n.4373+3A=)
c.7610+3A= (n.7610+3A=)
c.2556+3A=
c.2783+3A= (n.2783+3A=)
n.2356+3A=
c.7805+3A= (n.7805+3A=)
c.7796+3A= (n.7796+3A=)
c.7787+3A= (n.7787+3A=)
c.7673+3A= (n.7673+3A=)
c.7508+3A= (n.7508+3A=)
c.5657+3A= (n.5657+3A=)
c.3347+3A= (n.3347+3A=)
n.8046+3A=
18g.23915426A>GCA2641297068LAMA3c.2951+4A>G (n.2951+4A>G)
c.7778+4A>G (n.7778+4A>G)
c.4373+4A>G (n.4373+4A>G)
c.7610+4A>G (n.7610+4A>G)
c.2556+4A>G
c.2783+4A>G (n.2783+4A>G)
n.2356+4A>G
c.7805+4A>G (n.7805+4A>G)
c.7796+4A>G (n.7796+4A>G)
c.7787+4A>G (n.7787+4A>G)
c.7673+4A>G (n.7673+4A>G)
c.7508+4A>G (n.7508+4A>G)
c.5657+4A>G (n.5657+4A>G)
c.3347+4A>G (n.3347+4A>G)
n.8046+4A>G
 gnomAD v4
18g.23915427_23915485dupCA628685390LAMA3c.2951+5_2951+63dup (n.2951+5_2951+63dup)
c.7778+5_7778+63dup (n.7778+5_7778+63dup)
c.4373+5_4373+63dup (n.4373+5_4373+63dup)
c.7610+5_7610+63dup (n.7610+5_7610+63dup)
c.2556+5_2556+63dup
c.2783+5_2783+63dup (n.2783+5_2783+63dup)
n.2356+5_2356+63dup
c.7805+5_7805+63dup (n.7805+5_7805+63dup)
c.7796+5_7796+63dup (n.7796+5_7796+63dup)
c.7787+5_7787+63dup (n.7787+5_7787+63dup)
c.7673+5_7673+63dup (n.7673+5_7673+63dup)
c.7508+5_7508+63dup (n.7508+5_7508+63dup)
c.5657+5_5657+63dup (n.5657+5_5657+63dup)
c.3347+5_3347+63dup (n.3347+5_3347+63dup)
n.8046+5_8046+63dup
 dbSNP gnomAD v2 gnomAD v4
18g.23915427A>GCA2576473151LAMA3c.2951+5A>G (n.2951+5A>G)
c.7778+5A>G (n.7778+5A>G)
c.4373+5A>G (n.4373+5A>G)
c.7610+5A>G (n.7610+5A>G)
c.2556+5A>G
c.2783+5A>G (n.2783+5A>G)
n.2356+5A>G
c.7805+5A>G (n.7805+5A>G)
c.7796+5A>G (n.7796+5A>G)
c.7787+5A>G (n.7787+5A>G)
c.7673+5A>G (n.7673+5A>G)
c.7508+5A>G (n.7508+5A>G)
c.5657+5A>G (n.5657+5A>G)
c.3347+5A>G (n.3347+5A>G)
n.8046+5A>G
18g.23915428T>CCA2641297069LAMA3c.2951+6T>C (n.2951+6T>C)
c.7778+6T>C (n.7778+6T>C)
c.4373+6T>C (n.4373+6T>C)
c.7610+6T>C (n.7610+6T>C)
c.2556+6T>C
c.2783+6T>C (n.2783+6T>C)
n.2356+6T>C
c.7805+6T>C (n.7805+6T>C)
c.7796+6T>C (n.7796+6T>C)
c.7787+6T>C (n.7787+6T>C)
c.7673+6T>C (n.7673+6T>C)
c.7508+6T>C (n.7508+6T>C)
c.5657+6T>C (n.5657+6T>C)
c.3347+6T>C (n.3347+6T>C)
n.8046+6T>C
 gnomAD v4
18g.23915429A>CCA2641297070LAMA3c.2951+7A>C (n.2951+7A>C)
c.7778+7A>C (n.7778+7A>C)
c.4373+7A>C (n.4373+7A>C)
c.7610+7A>C (n.7610+7A>C)
c.2556+7A>C
c.2783+7A>C (n.2783+7A>C)
n.2356+7A>C
c.7805+7A>C (n.7805+7A>C)
c.7796+7A>C (n.7796+7A>C)
c.7787+7A>C (n.7787+7A>C)
c.7673+7A>C (n.7673+7A>C)
c.7508+7A>C (n.7508+7A>C)
c.5657+7A>C (n.5657+7A>C)
c.3347+7A>C (n.3347+7A>C)
n.8046+7A>C
 gnomAD v4
18g.23915434G>ACA8916740LAMA3c.2951+12G>A (n.2951+12G>A)
c.7778+12G>A (n.7778+12G>A)
c.4373+12G>A (n.4373+12G>A)
c.7610+12G>A (n.7610+12G>A)
c.2556+12G>A
c.2783+12G>A (n.2783+12G>A)
n.2356+12G>A
c.7805+12G>A (n.7805+12G>A)
c.7796+12G>A (n.7796+12G>A)
c.7787+12G>A (n.7787+12G>A)
c.7673+12G>A (n.7673+12G>A)
c.7508+12G>A (n.7508+12G>A)
c.5657+12G>A (n.5657+12G>A)
c.3347+12G>A (n.3347+12G>A)
n.8046+12G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915434G>CCA2734227365LAMA3c.2951+12G>C (n.2951+12G>C)
c.7778+12G>C (n.7778+12G>C)
c.4373+12G>C (n.4373+12G>C)
c.7610+12G>C (n.7610+12G>C)
c.2556+12G>C
c.2783+12G>C (n.2783+12G>C)
n.2356+12G>C
c.7805+12G>C (n.7805+12G>C)
c.7796+12G>C (n.7796+12G>C)
c.7787+12G>C (n.7787+12G>C)
c.7673+12G>C (n.7673+12G>C)
c.7508+12G>C (n.7508+12G>C)
c.5657+12G>C (n.5657+12G>C)
c.3347+12G>C (n.3347+12G>C)
n.8046+12G>C
 ClinVar dbSNP
18g.23915434G=CA2290329016LAMA3c.2951+12G= (n.2951+12G=)
c.7778+12G= (n.7778+12G=)
c.4373+12G= (n.4373+12G=)
c.7610+12G= (n.7610+12G=)
c.2556+12G=
c.2783+12G= (n.2783+12G=)
n.2356+12G=
c.7805+12G= (n.7805+12G=)
c.7796+12G= (n.7796+12G=)
c.7787+12G= (n.7787+12G=)
c.7673+12G= (n.7673+12G=)
c.7508+12G= (n.7508+12G=)
c.5657+12G= (n.5657+12G=)
c.3347+12G= (n.3347+12G=)
n.8046+12G=
18g.23915434G>TCA297109664LAMA3c.2951+12G>T (n.2951+12G>T)
c.7778+12G>T (n.7778+12G>T)
c.4373+12G>T (n.4373+12G>T)
c.7610+12G>T (n.7610+12G>T)
c.2556+12G>T
c.2783+12G>T (n.2783+12G>T)
n.2356+12G>T
c.7805+12G>T (n.7805+12G>T)
c.7796+12G>T (n.7796+12G>T)
c.7787+12G>T (n.7787+12G>T)
c.7673+12G>T (n.7673+12G>T)
c.7508+12G>T (n.7508+12G>T)
c.5657+12G>T (n.5657+12G>T)
c.3347+12G>T (n.3347+12G>T)
n.8046+12G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23915435T>ACA2811822940LAMA3c.2951+13T>A (n.2951+13T>A)
c.7778+13T>A (n.7778+13T>A)
c.4373+13T>A (n.4373+13T>A)
c.7610+13T>A (n.7610+13T>A)
c.2556+13T>A
c.2783+13T>A (n.2783+13T>A)
n.2356+13T>A
c.7805+13T>A (n.7805+13T>A)
c.7796+13T>A (n.7796+13T>A)
c.7787+13T>A (n.7787+13T>A)
c.7673+13T>A (n.7673+13T>A)
c.7508+13T>A (n.7508+13T>A)
c.5657+13T>A (n.5657+13T>A)
c.3347+13T>A (n.3347+13T>A)
n.8046+13T>A
18g.23915436A>GCA2641297091LAMA3c.2951+14A>G (n.2951+14A>G)
c.7778+14A>G (n.7778+14A>G)
c.4373+14A>G (n.4373+14A>G)
c.7610+14A>G (n.7610+14A>G)
c.2556+14A>G
c.2783+14A>G (n.2783+14A>G)
n.2356+14A>G
c.7805+14A>G (n.7805+14A>G)
c.7796+14A>G (n.7796+14A>G)
c.7787+14A>G (n.7787+14A>G)
c.7673+14A>G (n.7673+14A>G)
c.7508+14A>G (n.7508+14A>G)
c.5657+14A>G (n.5657+14A>G)
c.3347+14A>G (n.3347+14A>G)
n.8046+14A>G
 gnomAD v4
18g.23915437G>ACA2811822941LAMA3c.2951+15G>A (n.2951+15G>A)
c.7778+15G>A (n.7778+15G>A)
c.4373+15G>A (n.4373+15G>A)
c.7610+15G>A (n.7610+15G>A)
c.2556+15G>A
c.2783+15G>A (n.2783+15G>A)
n.2356+15G>A
c.7805+15G>A (n.7805+15G>A)
c.7796+15G>A (n.7796+15G>A)
c.7787+15G>A (n.7787+15G>A)
c.7673+15G>A (n.7673+15G>A)
c.7508+15G>A (n.7508+15G>A)
c.5657+15G>A (n.5657+15G>A)
c.3347+15G>A (n.3347+15G>A)
n.8046+15G>A
18g.23915437G>CCA2641297092LAMA3c.2951+15G>C (n.2951+15G>C)
c.7778+15G>C (n.7778+15G>C)
c.4373+15G>C (n.4373+15G>C)
c.7610+15G>C (n.7610+15G>C)
c.2556+15G>C
c.2783+15G>C (n.2783+15G>C)
n.2356+15G>C
c.7805+15G>C (n.7805+15G>C)
c.7796+15G>C (n.7796+15G>C)
c.7787+15G>C (n.7787+15G>C)
c.7673+15G>C (n.7673+15G>C)
c.7508+15G>C (n.7508+15G>C)
c.5657+15G>C (n.5657+15G>C)
c.3347+15G>C (n.3347+15G>C)
n.8046+15G>C
 gnomAD v4
18g.23915439A>GCA2576473152LAMA3c.2951+17A>G (n.2951+17A>G)
c.7778+17A>G (n.7778+17A>G)
c.4373+17A>G (n.4373+17A>G)
c.7610+17A>G (n.7610+17A>G)
c.2556+17A>G
c.2783+17A>G (n.2783+17A>G)
n.2356+17A>G
c.7805+17A>G (n.7805+17A>G)
c.7796+17A>G (n.7796+17A>G)
c.7787+17A>G (n.7787+17A>G)
c.7673+17A>G (n.7673+17A>G)
c.7508+17A>G (n.7508+17A>G)
c.5657+17A>G (n.5657+17A>G)
c.3347+17A>G (n.3347+17A>G)
n.8046+17A>G
18g.23915441C>ACA777729089LAMA3c.2951+19C>A (n.2951+19C>A)
c.7778+19C>A (n.7778+19C>A)
c.4373+19C>A (n.4373+19C>A)
c.7610+19C>A (n.7610+19C>A)
c.2556+19C>A
c.2783+19C>A (n.2783+19C>A)
n.2356+19C>A
c.7805+19C>A (n.7805+19C>A)
c.7796+19C>A (n.7796+19C>A)
c.7787+19C>A (n.7787+19C>A)
c.7673+19C>A (n.7673+19C>A)
c.7508+19C>A (n.7508+19C>A)
c.5657+19C>A (n.5657+19C>A)
c.3347+19C>A (n.3347+19C>A)
n.8046+19C>A
 ClinVar dbSNP
18g.23915441C=CA2290329018LAMA3c.2951+19C= (n.2951+19C=)
c.7778+19C= (n.7778+19C=)
c.4373+19C= (n.4373+19C=)
c.7610+19C= (n.7610+19C=)
c.2556+19C=
c.2783+19C= (n.2783+19C=)
n.2356+19C=
c.7805+19C= (n.7805+19C=)
c.7796+19C= (n.7796+19C=)
c.7787+19C= (n.7787+19C=)
c.7673+19C= (n.7673+19C=)
c.7508+19C= (n.7508+19C=)
c.5657+19C= (n.5657+19C=)
c.3347+19C= (n.3347+19C=)
n.8046+19C=
18g.23915441C>GCA2697555324LAMA3c.2951+19C>G (n.2951+19C>G)
c.7778+19C>G (n.7778+19C>G)
c.4373+19C>G (n.4373+19C>G)
c.7610+19C>G (n.7610+19C>G)
c.2556+19C>G
c.2783+19C>G (n.2783+19C>G)
n.2356+19C>G
c.7805+19C>G (n.7805+19C>G)
c.7796+19C>G (n.7796+19C>G)
c.7787+19C>G (n.7787+19C>G)
c.7673+19C>G (n.7673+19C>G)
c.7508+19C>G (n.7508+19C>G)
c.5657+19C>G (n.5657+19C>G)
c.3347+19C>G (n.3347+19C>G)
n.8046+19C>G
 ClinVar
18g.23915441C>TCA777729094LAMA3c.2951+19C>T (n.2951+19C>T)
c.7778+19C>T (n.7778+19C>T)
c.4373+19C>T (n.4373+19C>T)
c.7610+19C>T (n.7610+19C>T)
c.2556+19C>T
c.2783+19C>T (n.2783+19C>T)
n.2356+19C>T
c.7805+19C>T (n.7805+19C>T)
c.7796+19C>T (n.7796+19C>T)
c.7787+19C>T (n.7787+19C>T)
c.7673+19C>T (n.7673+19C>T)
c.7508+19C>T (n.7508+19C>T)
c.5657+19C>T (n.5657+19C>T)
c.3347+19C>T (n.3347+19C>T)
n.8046+19C>T
 ClinVar dbSNP gnomAD v4
18g.23915442C>TCA2739268594LAMA3c.2951+20C>T (n.2951+20C>T)
c.7778+20C>T (n.7778+20C>T)
c.4373+20C>T (n.4373+20C>T)
c.7610+20C>T (n.7610+20C>T)
c.2556+20C>T
c.2783+20C>T (n.2783+20C>T)
n.2356+20C>T
c.7805+20C>T (n.7805+20C>T)
c.7796+20C>T (n.7796+20C>T)
c.7787+20C>T (n.7787+20C>T)
c.7673+20C>T (n.7673+20C>T)
c.7508+20C>T (n.7508+20C>T)
c.5657+20C>T (n.5657+20C>T)
c.3347+20C>T (n.3347+20C>T)
n.8046+20C>T
 ClinVar
18g.23915443A>GCA2641297100LAMA3c.2951+21A>G (n.2951+21A>G)
c.7778+21A>G (n.7778+21A>G)
c.4373+21A>G (n.4373+21A>G)
c.7610+21A>G (n.7610+21A>G)
c.2556+21A>G
c.2783+21A>G (n.2783+21A>G)
n.2356+21A>G
c.7805+21A>G (n.7805+21A>G)
c.7796+21A>G (n.7796+21A>G)
c.7787+21A>G (n.7787+21A>G)
c.7673+21A>G (n.7673+21A>G)
c.7508+21A>G (n.7508+21A>G)
c.5657+21A>G (n.5657+21A>G)
c.3347+21A>G (n.3347+21A>G)
n.8046+21A>G
 gnomAD v4
18g.23915444G=CA2290329019LAMA3c.2951+22G= (n.2951+22G=)
c.7778+22G= (n.7778+22G=)
c.4373+22G= (n.4373+22G=)
c.7610+22G= (n.7610+22G=)
c.2556+22G=
c.2783+22G= (n.2783+22G=)
n.2356+22G=
c.7805+22G= (n.7805+22G=)
c.7796+22G= (n.7796+22G=)
c.7787+22G= (n.7787+22G=)
c.7673+22G= (n.7673+22G=)
c.7508+22G= (n.7508+22G=)
c.5657+22G= (n.5657+22G=)
c.3347+22G= (n.3347+22G=)
n.8046+22G=
18g.23915444G>TCA628685391LAMA3c.2951+22G>T (n.2951+22G>T)
c.7778+22G>T (n.7778+22G>T)
c.4373+22G>T (n.4373+22G>T)
c.7610+22G>T (n.7610+22G>T)
c.2556+22G>T
c.2783+22G>T (n.2783+22G>T)
n.2356+22G>T
c.7805+22G>T (n.7805+22G>T)
c.7796+22G>T (n.7796+22G>T)
c.7787+22G>T (n.7787+22G>T)
c.7673+22G>T (n.7673+22G>T)
c.7508+22G>T (n.7508+22G>T)
c.5657+22G>T (n.5657+22G>T)
c.3347+22G>T (n.3347+22G>T)
n.8046+22G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23915445A>CCA2641297104LAMA3c.2951+23A>C (n.2951+23A>C)
c.7778+23A>C (n.7778+23A>C)
c.4373+23A>C (n.4373+23A>C)
c.7610+23A>C (n.7610+23A>C)
c.2556+23A>C
c.2783+23A>C (n.2783+23A>C)
n.2356+23A>C
c.7805+23A>C (n.7805+23A>C)
c.7796+23A>C (n.7796+23A>C)
c.7787+23A>C (n.7787+23A>C)
c.7673+23A>C (n.7673+23A>C)
c.7508+23A>C (n.7508+23A>C)
c.5657+23A>C (n.5657+23A>C)
c.3347+23A>C (n.3347+23A>C)
n.8046+23A>C
 gnomAD v4
18g.23915445A>TCA2641297105LAMA3c.2951+23A>T (n.2951+23A>T)
c.7778+23A>T (n.7778+23A>T)
c.4373+23A>T (n.4373+23A>T)
c.7610+23A>T (n.7610+23A>T)
c.2556+23A>T
c.2783+23A>T (n.2783+23A>T)
n.2356+23A>T
c.7805+23A>T (n.7805+23A>T)
c.7796+23A>T (n.7796+23A>T)
c.7787+23A>T (n.7787+23A>T)
c.7673+23A>T (n.7673+23A>T)
c.7508+23A>T (n.7508+23A>T)
c.5657+23A>T (n.5657+23A>T)
c.3347+23A>T (n.3347+23A>T)
n.8046+23A>T
 gnomAD v4
18g.23915447delCA2641297103LAMA3c.2951+25del (n.2951+25del)
c.7778+25del (n.7778+25del)
c.4373+25del (n.4373+25del)
c.7610+25del (n.7610+25del)
c.2556+25del
c.2783+25del (n.2783+25del)
n.2356+25del
c.7805+25del (n.7805+25del)
c.7796+25del (n.7796+25del)
c.7787+25del (n.7787+25del)
c.7673+25del (n.7673+25del)
c.7508+25del (n.7508+25del)
c.5657+25del (n.5657+25del)
c.3347+25del (n.3347+25del)
n.8046+25del
 gnomAD v4
18g.23915446A=CA2290329020LAMA3c.2951+24A= (n.2951+24A=)
c.7778+24A= (n.7778+24A=)
c.4373+24A= (n.4373+24A=)
c.7610+24A= (n.7610+24A=)
c.2556+24A=
c.2783+24A= (n.2783+24A=)
n.2356+24A=
c.7805+24A= (n.7805+24A=)
c.7796+24A= (n.7796+24A=)
c.7787+24A= (n.7787+24A=)
c.7673+24A= (n.7673+24A=)
c.7508+24A= (n.7508+24A=)
c.5657+24A= (n.5657+24A=)
c.3347+24A= (n.3347+24A=)
n.8046+24A=
18g.23915446A>CCA2641297107LAMA3c.2951+24A>C (n.2951+24A>C)
c.7778+24A>C (n.7778+24A>C)
c.4373+24A>C (n.4373+24A>C)
c.7610+24A>C (n.7610+24A>C)
c.2556+24A>C
c.2783+24A>C (n.2783+24A>C)
n.2356+24A>C
c.7805+24A>C (n.7805+24A>C)
c.7796+24A>C (n.7796+24A>C)
c.7787+24A>C (n.7787+24A>C)
c.7673+24A>C (n.7673+24A>C)
c.7508+24A>C (n.7508+24A>C)
c.5657+24A>C (n.5657+24A>C)
c.3347+24A>C (n.3347+24A>C)
n.8046+24A>C
 gnomAD v4
18g.23915446A>GCA628685392LAMA3c.2951+24A>G (n.2951+24A>G)
c.7778+24A>G (n.7778+24A>G)
c.4373+24A>G (n.4373+24A>G)
c.7610+24A>G (n.7610+24A>G)
c.2556+24A>G
c.2783+24A>G (n.2783+24A>G)
n.2356+24A>G
c.7805+24A>G (n.7805+24A>G)
c.7796+24A>G (n.7796+24A>G)
c.7787+24A>G (n.7787+24A>G)
c.7673+24A>G (n.7673+24A>G)
c.7508+24A>G (n.7508+24A>G)
c.5657+24A>G (n.5657+24A>G)
c.3347+24A>G (n.3347+24A>G)
n.8046+24A>G
 dbSNP gnomAD v2 gnomAD v4
18g.23915447A>GCA2641297110LAMA3c.2951+25A>G (n.2951+25A>G)
c.7778+25A>G (n.7778+25A>G)
c.4373+25A>G (n.4373+25A>G)
c.7610+25A>G (n.7610+25A>G)
c.2556+25A>G
c.2783+25A>G (n.2783+25A>G)
n.2356+25A>G
c.7805+25A>G (n.7805+25A>G)
c.7796+25A>G (n.7796+25A>G)
c.7787+25A>G (n.7787+25A>G)
c.7673+25A>G (n.7673+25A>G)
c.7508+25A>G (n.7508+25A>G)
c.5657+25A>G (n.5657+25A>G)
c.3347+25A>G (n.3347+25A>G)
n.8046+25A>G
 gnomAD v4
18g.23915448C>ACA2641297112LAMA3c.2951+26C>A (n.2951+26C>A)
c.7778+26C>A (n.7778+26C>A)
c.4373+26C>A (n.4373+26C>A)
c.7610+26C>A (n.7610+26C>A)
c.2556+26C>A
c.2783+26C>A (n.2783+26C>A)
n.2356+26C>A
c.7805+26C>A (n.7805+26C>A)
c.7796+26C>A (n.7796+26C>A)
c.7787+26C>A (n.7787+26C>A)
c.7673+26C>A (n.7673+26C>A)
c.7508+26C>A (n.7508+26C>A)
c.5657+26C>A (n.5657+26C>A)
c.3347+26C>A (n.3347+26C>A)
n.8046+26C>A
 gnomAD v4
18g.23915448C=CA2290329022LAMA3c.2951+26C= (n.2951+26C=)
c.7778+26C= (n.7778+26C=)
c.4373+26C= (n.4373+26C=)
c.7610+26C= (n.7610+26C=)
c.2556+26C=
c.2783+26C= (n.2783+26C=)
n.2356+26C=
c.7805+26C= (n.7805+26C=)
c.7796+26C= (n.7796+26C=)
c.7787+26C= (n.7787+26C=)
c.7673+26C= (n.7673+26C=)
c.7508+26C= (n.7508+26C=)
c.5657+26C= (n.5657+26C=)
c.3347+26C= (n.3347+26C=)
n.8046+26C=
18g.23915448C>GCA2641297113LAMA3c.2951+26C>G (n.2951+26C>G)
c.7778+26C>G (n.7778+26C>G)
c.4373+26C>G (n.4373+26C>G)
c.7610+26C>G (n.7610+26C>G)
c.2556+26C>G
c.2783+26C>G (n.2783+26C>G)
n.2356+26C>G
c.7805+26C>G (n.7805+26C>G)
c.7796+26C>G (n.7796+26C>G)
c.7787+26C>G (n.7787+26C>G)
c.7673+26C>G (n.7673+26C>G)
c.7508+26C>G (n.7508+26C>G)
c.5657+26C>G (n.5657+26C>G)
c.3347+26C>G (n.3347+26C>G)
n.8046+26C>G
 gnomAD v4
18g.23915448C>TCA8916741LAMA3c.2951+26C>T (n.2951+26C>T)
c.7778+26C>T (n.7778+26C>T)
c.4373+26C>T (n.4373+26C>T)
c.7610+26C>T (n.7610+26C>T)
c.2556+26C>T
c.2783+26C>T (n.2783+26C>T)
n.2356+26C>T
c.7805+26C>T (n.7805+26C>T)
c.7796+26C>T (n.7796+26C>T)
c.7787+26C>T (n.7787+26C>T)
c.7673+26C>T (n.7673+26C>T)
c.7508+26C>T (n.7508+26C>T)
c.5657+26C>T (n.5657+26C>T)
c.3347+26C>T (n.3347+26C>T)
n.8046+26C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915452G>TCA2641297116LAMA3c.2951+30G>T (n.2951+30G>T)
c.7778+30G>T (n.7778+30G>T)
c.4373+30G>T (n.4373+30G>T)
c.7610+30G>T (n.7610+30G>T)
c.2556+30G>T
c.2783+30G>T (n.2783+30G>T)
n.2356+30G>T
c.7805+30G>T (n.7805+30G>T)
c.7796+30G>T (n.7796+30G>T)
c.7787+30G>T (n.7787+30G>T)
c.7673+30G>T (n.7673+30G>T)
c.7508+30G>T (n.7508+30G>T)
c.5657+30G>T (n.5657+30G>T)
c.3347+30G>T (n.3347+30G>T)
n.8046+30G>T
 gnomAD v4
18g.23915453T>CCA2641297117LAMA3c.2951+31T>C (n.2951+31T>C)
c.7778+31T>C (n.7778+31T>C)
c.4373+31T>C (n.4373+31T>C)
c.7610+31T>C (n.7610+31T>C)
c.2556+31T>C
c.2783+31T>C (n.2783+31T>C)
n.2356+31T>C
c.7805+31T>C (n.7805+31T>C)
c.7796+31T>C (n.7796+31T>C)
c.7787+31T>C (n.7787+31T>C)
c.7673+31T>C (n.7673+31T>C)
c.7508+31T>C (n.7508+31T>C)
c.5657+31T>C (n.5657+31T>C)
c.3347+31T>C (n.3347+31T>C)
n.8046+31T>C
 gnomAD v4
18g.23915456C>TCA2570773634LAMA3c.2951+34C>T (n.2951+34C>T)
c.7778+34C>T (n.7778+34C>T)
c.4373+34C>T (n.4373+34C>T)
c.7610+34C>T (n.7610+34C>T)
c.2556+34C>T
c.2783+34C>T (n.2783+34C>T)
n.2356+34C>T
c.7805+34C>T (n.7805+34C>T)
c.7796+34C>T (n.7796+34C>T)
c.7787+34C>T (n.7787+34C>T)
c.7673+34C>T (n.7673+34C>T)
c.7508+34C>T (n.7508+34C>T)
c.5657+34C>T (n.5657+34C>T)
c.3347+34C>T (n.3347+34C>T)
n.8046+34C>T
18g.23915457T>ACA2641297119LAMA3c.2951+35T>A (n.2951+35T>A)
c.7778+35T>A (n.7778+35T>A)
c.4373+35T>A (n.4373+35T>A)
c.7610+35T>A (n.7610+35T>A)
c.2556+35T>A
c.2783+35T>A (n.2783+35T>A)
n.2356+35T>A
c.7805+35T>A (n.7805+35T>A)
c.7796+35T>A (n.7796+35T>A)
c.7787+35T>A (n.7787+35T>A)
c.7673+35T>A (n.7673+35T>A)
c.7508+35T>A (n.7508+35T>A)
c.5657+35T>A (n.5657+35T>A)
c.3347+35T>A (n.3347+35T>A)
n.8046+35T>A
 gnomAD v4

Number of alleles fetched