Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23928169A>CCA402063089LAMA3c.3397A>C (p.Lys1133Gln)
c.8224A>C (p.Lys2742Gln)
c.4819A>C (p.Lys1607Gln)
c.8056A>C (p.Lys2686Gln)
c.3002A>C
c.3229A>C (p.Lys1077Gln)
n.2802A>C
c.8251A>C (p.Lys2751Gln)
c.8242A>C (p.Lys2748Gln)
c.8233A>C (p.Lys2745Gln)
c.8119A>C (p.Lys2707Gln)
c.7954A>C (p.Lys2652Gln)
c.6103A>C (p.Lys2035Gln)
c.3793A>C (p.Lys1265Gln)
n.8492A>C
18g.23928169A>GCA402063092LAMA3c.3397A>G (p.Lys1133Glu)
c.8224A>G (p.Lys2742Glu)
c.4819A>G (p.Lys1607Glu)
c.8056A>G (p.Lys2686Glu)
c.3002A>G
c.3229A>G (p.Lys1077Glu)
n.2802A>G
c.8251A>G (p.Lys2751Glu)
c.8242A>G (p.Lys2748Glu)
c.8233A>G (p.Lys2745Glu)
c.8119A>G (p.Lys2707Glu)
c.7954A>G (p.Lys2652Glu)
c.6103A>G (p.Lys2035Glu)
c.3793A>G (p.Lys1265Glu)
n.8492A>G
18g.23928169A>TCA402063091LAMA3c.3397A>T (p.Lys1133Ter)
c.8224A>T (p.Lys2742Ter)
c.4819A>T (p.Lys1607Ter)
c.8056A>T (p.Lys2686Ter)
c.3002A>T
c.3229A>T (p.Lys1077Ter)
n.2802A>T
c.8251A>T (p.Lys2751Ter)
c.8242A>T (p.Lys2748Ter)
c.8233A>T (p.Lys2745Ter)
c.8119A>T (p.Lys2707Ter)
c.7954A>T (p.Lys2652Ter)
c.6103A>T (p.Lys2035Ter)
c.3793A>T (p.Lys1265Ter)
n.8492A>T
18g.23928170A>CCA402063095LAMA3c.3398A>C (p.Lys1133Thr)
c.8225A>C (p.Lys2742Thr)
c.4820A>C (p.Lys1607Thr)
c.8057A>C (p.Lys2686Thr)
c.3003A>C
c.3230A>C (p.Lys1077Thr)
n.2803A>C
c.8252A>C (p.Lys2751Thr)
c.8243A>C (p.Lys2748Thr)
c.8234A>C (p.Lys2745Thr)
c.8120A>C (p.Lys2707Thr)
c.7955A>C (p.Lys2652Thr)
c.6104A>C (p.Lys2035Thr)
c.3794A>C (p.Lys1265Thr)
n.8493A>C
18g.23928170A>GCA402063099LAMA3c.3398A>G (p.Lys1133Arg)
c.8225A>G (p.Lys2742Arg)
c.4820A>G (p.Lys1607Arg)
c.8057A>G (p.Lys2686Arg)
c.3003A>G
c.3230A>G (p.Lys1077Arg)
n.2803A>G
c.8252A>G (p.Lys2751Arg)
c.8243A>G (p.Lys2748Arg)
c.8234A>G (p.Lys2745Arg)
c.8120A>G (p.Lys2707Arg)
c.7955A>G (p.Lys2652Arg)
c.6104A>G (p.Lys2035Arg)
c.3794A>G (p.Lys1265Arg)
n.8493A>G
18g.23928170A>TCA402063097LAMA3c.3398A>T (p.Lys1133Met)
c.8225A>T (p.Lys2742Met)
c.4820A>T (p.Lys1607Met)
c.8057A>T (p.Lys2686Met)
c.3003A>T
c.3230A>T (p.Lys1077Met)
n.2803A>T
c.8252A>T (p.Lys2751Met)
c.8243A>T (p.Lys2748Met)
c.8234A>T (p.Lys2745Met)
c.8120A>T (p.Lys2707Met)
c.7955A>T (p.Lys2652Met)
c.6104A>T (p.Lys2035Met)
c.3794A>T (p.Lys1265Met)
n.8493A>T
18g.23928171G>ACA503340631LAMA3c.3399G>A (p.Lys1133=)
c.8226G>A (p.Lys2742=)
c.4821G>A (p.Lys1607=)
c.8058G>A (p.Lys2686=)
c.3004G>A
c.3231G>A (p.Lys1077=)
n.2804G>A
c.8253G>A (p.Lys2751=)
c.8244G>A (p.Lys2748=)
c.8235G>A (p.Lys2745=)
c.8121G>A (p.Lys2707=)
c.7956G>A (p.Lys2652=)
c.6105G>A (p.Lys2035=)
c.3795G>A (p.Lys1265=)
n.8494G>A
18g.23928171G>CCA402063100LAMA3c.3399G>C (p.Lys1133Asn)
c.8226G>C (p.Lys2742Asn)
c.4821G>C (p.Lys1607Asn)
c.8058G>C (p.Lys2686Asn)
c.3004G>C
c.3231G>C (p.Lys1077Asn)
n.2804G>C
c.8253G>C (p.Lys2751Asn)
c.8244G>C (p.Lys2748Asn)
c.8235G>C (p.Lys2745Asn)
c.8121G>C (p.Lys2707Asn)
c.7956G>C (p.Lys2652Asn)
c.6105G>C (p.Lys2035Asn)
c.3795G>C (p.Lys1265Asn)
n.8494G>C
18g.23928171G>TCA402063101LAMA3c.3399G>T (p.Lys1133Asn)
c.8226G>T (p.Lys2742Asn)
c.4821G>T (p.Lys1607Asn)
c.8058G>T (p.Lys2686Asn)
c.3004G>T
c.3231G>T (p.Lys1077Asn)
n.2804G>T
c.8253G>T (p.Lys2751Asn)
c.8244G>T (p.Lys2748Asn)
c.8235G>T (p.Lys2745Asn)
c.8121G>T (p.Lys2707Asn)
c.7956G>T (p.Lys2652Asn)
c.6105G>T (p.Lys2035Asn)
c.3795G>T (p.Lys1265Asn)
n.8494G>T
18g.23928172A>CCA402063103LAMA3c.3400A>C (p.Lys1134Gln)
c.8227A>C (p.Lys2743Gln)
c.4822A>C (p.Lys1608Gln)
c.8059A>C (p.Lys2687Gln)
c.3005A>C
c.3232A>C (p.Lys1078Gln)
n.2805A>C
c.8254A>C (p.Lys2752Gln)
c.8245A>C (p.Lys2749Gln)
c.8236A>C (p.Lys2746Gln)
c.8122A>C (p.Lys2708Gln)
c.7957A>C (p.Lys2653Gln)
c.6106A>C (p.Lys2036Gln)
c.3796A>C (p.Lys1266Gln)
n.8495A>C
18g.23928172A>GCA402063106LAMA3c.3400A>G (p.Lys1134Glu)
c.8227A>G (p.Lys2743Glu)
c.4822A>G (p.Lys1608Glu)
c.8059A>G (p.Lys2687Glu)
c.3005A>G
c.3232A>G (p.Lys1078Glu)
n.2805A>G
c.8254A>G (p.Lys2752Glu)
c.8245A>G (p.Lys2749Glu)
c.8236A>G (p.Lys2746Glu)
c.8122A>G (p.Lys2708Glu)
c.7957A>G (p.Lys2653Glu)
c.6106A>G (p.Lys2036Glu)
c.3796A>G (p.Lys1266Glu)
n.8495A>G
18g.23928172A>TCA402063108LAMA3c.3400A>T (p.Lys1134Ter)
c.8227A>T (p.Lys2743Ter)
c.4822A>T (p.Lys1608Ter)
c.8059A>T (p.Lys2687Ter)
c.3005A>T
c.3232A>T (p.Lys1078Ter)
n.2805A>T
c.8254A>T (p.Lys2752Ter)
c.8245A>T (p.Lys2749Ter)
c.8236A>T (p.Lys2746Ter)
c.8122A>T (p.Lys2708Ter)
c.7957A>T (p.Lys2653Ter)
c.6106A>T (p.Lys2036Ter)
c.3796A>T (p.Lys1266Ter)
n.8495A>T
18g.23928173A=CA2290334613LAMA3c.3401A= (p.Lys1134=)
c.8228A= (p.Lys2743=)
c.4823A= (p.Lys1608=)
c.8060A= (p.Lys2687=)
c.3006A=
c.3233A= (p.Lys1078=)
n.2806A=
c.8255A= (p.Lys2752=)
c.8246A= (p.Lys2749=)
c.8237A= (p.Lys2746=)
c.8123A= (p.Lys2708=)
c.7958A= (p.Lys2653=)
c.6107A= (p.Lys2036=)
c.3797A= (p.Lys1266=)
n.8496A=
18g.23928173A>CCA402063110LAMA3c.3401A>C (p.Lys1134Thr)
c.8228A>C (p.Lys2743Thr)
c.4823A>C (p.Lys1608Thr)
c.8060A>C (p.Lys2687Thr)
c.3006A>C
c.3233A>C (p.Lys1078Thr)
n.2806A>C
c.8255A>C (p.Lys2752Thr)
c.8246A>C (p.Lys2749Thr)
c.8237A>C (p.Lys2746Thr)
c.8123A>C (p.Lys2708Thr)
c.7958A>C (p.Lys2653Thr)
c.6107A>C (p.Lys2036Thr)
c.3797A>C (p.Lys1266Thr)
n.8496A>C
18g.23928173A>GCA402063111LAMA3c.3401A>G (p.Lys1134Arg)
c.8228A>G (p.Lys2743Arg)
c.4823A>G (p.Lys1608Arg)
c.8060A>G (p.Lys2687Arg)
c.3006A>G
c.3233A>G (p.Lys1078Arg)
n.2806A>G
c.8255A>G (p.Lys2752Arg)
c.8246A>G (p.Lys2749Arg)
c.8237A>G (p.Lys2746Arg)
c.8123A>G (p.Lys2708Arg)
c.7958A>G (p.Lys2653Arg)
c.6107A>G (p.Lys2036Arg)
c.3797A>G (p.Lys1266Arg)
n.8496A>G
 dbSNP gnomAD v2 gnomAD v4
18g.23928173A>TCA402063112LAMA3c.3401A>T (p.Lys1134Ile)
c.8228A>T (p.Lys2743Ile)
c.4823A>T (p.Lys1608Ile)
c.8060A>T (p.Lys2687Ile)
c.3006A>T
c.3233A>T (p.Lys1078Ile)
n.2806A>T
c.8255A>T (p.Lys2752Ile)
c.8246A>T (p.Lys2749Ile)
c.8237A>T (p.Lys2746Ile)
c.8123A>T (p.Lys2708Ile)
c.7958A>T (p.Lys2653Ile)
c.6107A>T (p.Lys2036Ile)
c.3797A>T (p.Lys1266Ile)
n.8496A>T
18g.23928174A=CA2290334614LAMA3c.3402A= (p.Lys1134=)
c.8229A= (p.Lys2743=)
c.4824A= (p.Lys1608=)
c.8061A= (p.Lys2687=)
c.3007A=
c.3234A= (p.Lys1078=)
n.2807A=
c.8256A= (p.Lys2752=)
c.8247A= (p.Lys2749=)
c.8238A= (p.Lys2746=)
c.8124A= (p.Lys2708=)
c.7959A= (p.Lys2653=)
c.6108A= (p.Lys2036=)
c.3798A= (p.Lys1266=)
n.8497A=
18g.23928174A>CCA402063114LAMA3c.3402A>C (p.Lys1134Asn)
c.8229A>C (p.Lys2743Asn)
c.4824A>C (p.Lys1608Asn)
c.8061A>C (p.Lys2687Asn)
c.3007A>C
c.3234A>C (p.Lys1078Asn)
n.2807A>C
c.8256A>C (p.Lys2752Asn)
c.8247A>C (p.Lys2749Asn)
c.8238A>C (p.Lys2746Asn)
c.8124A>C (p.Lys2708Asn)
c.7959A>C (p.Lys2653Asn)
c.6108A>C (p.Lys2036Asn)
c.3798A>C (p.Lys1266Asn)
n.8497A>C
18g.23928174A>GCA503340632LAMA3c.3402A>G (p.Lys1134=)
c.8229A>G (p.Lys2743=)
c.4824A>G (p.Lys1608=)
c.8061A>G (p.Lys2687=)
c.3007A>G
c.3234A>G (p.Lys1078=)
n.2807A>G
c.8256A>G (p.Lys2752=)
c.8247A>G (p.Lys2749=)
c.8238A>G (p.Lys2746=)
c.8124A>G (p.Lys2708=)
c.7959A>G (p.Lys2653=)
c.6108A>G (p.Lys2036=)
c.3798A>G (p.Lys1266=)
n.8497A>G
 dbSNP
18g.23928174A>TCA402063116LAMA3c.3402A>T (p.Lys1134Asn)
c.8229A>T (p.Lys2743Asn)
c.4824A>T (p.Lys1608Asn)
c.8061A>T (p.Lys2687Asn)
c.3007A>T
c.3234A>T (p.Lys1078Asn)
n.2807A>T
c.8256A>T (p.Lys2752Asn)
c.8247A>T (p.Lys2749Asn)
c.8238A>T (p.Lys2746Asn)
c.8124A>T (p.Lys2708Asn)
c.7959A>T (p.Lys2653Asn)
c.6108A>T (p.Lys2036Asn)
c.3798A>T (p.Lys1266Asn)
n.8497A>T
18g.23928175A>CCA402063122LAMA3c.3403A>C (p.Thr1135Pro)
c.8230A>C (p.Thr2744Pro)
c.4825A>C (p.Thr1609Pro)
c.8062A>C (p.Thr2688Pro)
c.3008A>C
c.3235A>C (p.Thr1079Pro)
n.2808A>C
c.8257A>C (p.Thr2753Pro)
c.8248A>C (p.Thr2750Pro)
c.8239A>C (p.Thr2747Pro)
c.8125A>C (p.Thr2709Pro)
c.7960A>C (p.Thr2654Pro)
c.6109A>C (p.Thr2037Pro)
c.3799A>C (p.Thr1267Pro)
n.8498A>C
 gnomAD v4
18g.23928175A>GCA402063121LAMA3c.3403A>G (p.Thr1135Ala)
c.8230A>G (p.Thr2744Ala)
c.4825A>G (p.Thr1609Ala)
c.8062A>G (p.Thr2688Ala)
c.3008A>G
c.3235A>G (p.Thr1079Ala)
n.2808A>G
c.8257A>G (p.Thr2753Ala)
c.8248A>G (p.Thr2750Ala)
c.8239A>G (p.Thr2747Ala)
c.8125A>G (p.Thr2709Ala)
c.7960A>G (p.Thr2654Ala)
c.6109A>G (p.Thr2037Ala)
c.3799A>G (p.Thr1267Ala)
n.8498A>G
18g.23928175A>TCA402063119LAMA3c.3403A>T (p.Thr1135Ser)
c.8230A>T (p.Thr2744Ser)
c.4825A>T (p.Thr1609Ser)
c.8062A>T (p.Thr2688Ser)
c.3008A>T
c.3235A>T (p.Thr1079Ser)
n.2808A>T
c.8257A>T (p.Thr2753Ser)
c.8248A>T (p.Thr2750Ser)
c.8239A>T (p.Thr2747Ser)
c.8125A>T (p.Thr2709Ser)
c.7960A>T (p.Thr2654Ser)
c.6109A>T (p.Thr2037Ser)
c.3799A>T (p.Thr1267Ser)
n.8498A>T
18g.23928176C>ACA402063123LAMA3c.3404C>A (p.Thr1135Asn)
c.8231C>A (p.Thr2744Asn)
c.4826C>A (p.Thr1609Asn)
c.8063C>A (p.Thr2688Asn)
c.3009C>A
c.3236C>A (p.Thr1079Asn)
n.2809C>A
c.8258C>A (p.Thr2753Asn)
c.8249C>A (p.Thr2750Asn)
c.8240C>A (p.Thr2747Asn)
c.8126C>A (p.Thr2709Asn)
c.7961C>A (p.Thr2654Asn)
c.6110C>A (p.Thr2037Asn)
c.3800C>A (p.Thr1267Asn)
n.8499C>A
18g.23928176C>GCA402063124LAMA3c.3404C>G (p.Thr1135Ser)
c.8231C>G (p.Thr2744Ser)
c.4826C>G (p.Thr1609Ser)
c.8063C>G (p.Thr2688Ser)
c.3009C>G
c.3236C>G (p.Thr1079Ser)
n.2809C>G
c.8258C>G (p.Thr2753Ser)
c.8249C>G (p.Thr2750Ser)
c.8240C>G (p.Thr2747Ser)
c.8126C>G (p.Thr2709Ser)
c.7961C>G (p.Thr2654Ser)
c.6110C>G (p.Thr2037Ser)
c.3800C>G (p.Thr1267Ser)
n.8499C>G
18g.23928176C>TCA402063126LAMA3c.3404C>T (p.Thr1135Ile)
c.8231C>T (p.Thr2744Ile)
c.4826C>T (p.Thr1609Ile)
c.8063C>T (p.Thr2688Ile)
c.3009C>T
c.3236C>T (p.Thr1079Ile)
n.2809C>T
c.8258C>T (p.Thr2753Ile)
c.8249C>T (p.Thr2750Ile)
c.8240C>T (p.Thr2747Ile)
c.8126C>T (p.Thr2709Ile)
c.7961C>T (p.Thr2654Ile)
c.6110C>T (p.Thr2037Ile)
c.3800C>T (p.Thr1267Ile)
n.8499C>T
18g.23928177C>ACA503340633LAMA3c.3405C>A (p.Thr1135=)
c.8232C>A (p.Thr2744=)
c.4827C>A (p.Thr1609=)
c.8064C>A (p.Thr2688=)
c.3010C>A
c.3237C>A (p.Thr1079=)
n.2810C>A
c.8259C>A (p.Thr2753=)
c.8250C>A (p.Thr2750=)
c.8241C>A (p.Thr2747=)
c.8127C>A (p.Thr2709=)
c.7962C>A (p.Thr2654=)
c.6111C>A (p.Thr2037=)
c.3801C>A (p.Thr1267=)
n.8500C>A
18g.23928177C=CA2290334615LAMA3c.3405C= (p.Thr1135=)
c.8232C= (p.Thr2744=)
c.4827C= (p.Thr1609=)
c.8064C= (p.Thr2688=)
c.3010C=
c.3237C= (p.Thr1079=)
n.2810C=
c.8259C= (p.Thr2753=)
c.8250C= (p.Thr2750=)
c.8241C= (p.Thr2747=)
c.8127C= (p.Thr2709=)
c.7962C= (p.Thr2654=)
c.6111C= (p.Thr2037=)
c.3801C= (p.Thr1267=)
n.8500C=
18g.23928177C>GCA503340635LAMA3c.3405C>G (p.Thr1135=)
c.8232C>G (p.Thr2744=)
c.4827C>G (p.Thr1609=)
c.8064C>G (p.Thr2688=)
c.3010C>G
c.3237C>G (p.Thr1079=)
n.2810C>G
c.8259C>G (p.Thr2753=)
c.8250C>G (p.Thr2750=)
c.8241C>G (p.Thr2747=)
c.8127C>G (p.Thr2709=)
c.7962C>G (p.Thr2654=)
c.6111C>G (p.Thr2037=)
c.3801C>G (p.Thr1267=)
n.8500C>G
18g.23928177C>TCA503340634LAMA3c.3405C>T (p.Thr1135=)
c.8232C>T (p.Thr2744=)
c.4827C>T (p.Thr1609=)
c.8064C>T (p.Thr2688=)
c.3010C>T
c.3237C>T (p.Thr1079=)
n.2810C>T
c.8259C>T (p.Thr2753=)
c.8250C>T (p.Thr2750=)
c.8241C>T (p.Thr2747=)
c.8127C>T (p.Thr2709=)
c.7962C>T (p.Thr2654=)
c.6111C>T (p.Thr2037=)
c.3801C>T (p.Thr1267=)
n.8500C>T
 dbSNP
18g.23928178A>CCA402063133LAMA3c.3406A>C (p.Ser1136Arg)
c.8233A>C (p.Ser2745Arg)
c.4828A>C (p.Ser1610Arg)
c.8065A>C (p.Ser2689Arg)
c.3011A>C
c.3238A>C (p.Ser1080Arg)
n.2811A>C
c.8260A>C (p.Ser2754Arg)
c.8251A>C (p.Ser2751Arg)
c.8242A>C (p.Ser2748Arg)
c.8128A>C (p.Ser2710Arg)
c.7963A>C (p.Ser2655Arg)
c.6112A>C (p.Ser2038Arg)
c.3802A>C (p.Ser1268Arg)
n.8501A>C
18g.23928178A>GCA402063135LAMA3c.3406A>G (p.Ser1136Gly)
c.8233A>G (p.Ser2745Gly)
c.4828A>G (p.Ser1610Gly)
c.8065A>G (p.Ser2689Gly)
c.3011A>G
c.3238A>G (p.Ser1080Gly)
n.2811A>G
c.8260A>G (p.Ser2754Gly)
c.8251A>G (p.Ser2751Gly)
c.8242A>G (p.Ser2748Gly)
c.8128A>G (p.Ser2710Gly)
c.7963A>G (p.Ser2655Gly)
c.6112A>G (p.Ser2038Gly)
c.3802A>G (p.Ser1268Gly)
n.8501A>G
18g.23928178A>TCA402063137LAMA3c.3406A>T (p.Ser1136Cys)
c.8233A>T (p.Ser2745Cys)
c.4828A>T (p.Ser1610Cys)
c.8065A>T (p.Ser2689Cys)
c.3011A>T
c.3238A>T (p.Ser1080Cys)
n.2811A>T
c.8260A>T (p.Ser2754Cys)
c.8251A>T (p.Ser2751Cys)
c.8242A>T (p.Ser2748Cys)
c.8128A>T (p.Ser2710Cys)
c.7963A>T (p.Ser2655Cys)
c.6112A>T (p.Ser2038Cys)
c.3802A>T (p.Ser1268Cys)
n.8501A>T
18g.23928179G>ACA402063140LAMA3c.3407G>A (p.Ser1136Asn)
c.8234G>A (p.Ser2745Asn)
c.4829G>A (p.Ser1610Asn)
c.8066G>A (p.Ser2689Asn)
c.3012G>A
c.3239G>A (p.Ser1080Asn)
n.2812G>A
c.8261G>A (p.Ser2754Asn)
c.8252G>A (p.Ser2751Asn)
c.8243G>A (p.Ser2748Asn)
c.8129G>A (p.Ser2710Asn)
c.7964G>A (p.Ser2655Asn)
c.6113G>A (p.Ser2038Asn)
c.3803G>A (p.Ser1268Asn)
n.8502G>A
 gnomAD v4
18g.23928179G>CCA402063142LAMA3c.3407G>C (p.Ser1136Thr)
c.8234G>C (p.Ser2745Thr)
c.4829G>C (p.Ser1610Thr)
c.8066G>C (p.Ser2689Thr)
c.3012G>C
c.3239G>C (p.Ser1080Thr)
n.2812G>C
c.8261G>C (p.Ser2754Thr)
c.8252G>C (p.Ser2751Thr)
c.8243G>C (p.Ser2748Thr)
c.8129G>C (p.Ser2710Thr)
c.7964G>C (p.Ser2655Thr)
c.6113G>C (p.Ser2038Thr)
c.3803G>C (p.Ser1268Thr)
n.8502G>C
18g.23928179G>TCA402063145LAMA3c.3407G>T (p.Ser1136Ile)
c.8234G>T (p.Ser2745Ile)
c.4829G>T (p.Ser1610Ile)
c.8066G>T (p.Ser2689Ile)
c.3012G>T
c.3239G>T (p.Ser1080Ile)
n.2812G>T
c.8261G>T (p.Ser2754Ile)
c.8252G>T (p.Ser2751Ile)
c.8243G>T (p.Ser2748Ile)
c.8129G>T (p.Ser2710Ile)
c.7964G>T (p.Ser2655Ile)
c.6113G>T (p.Ser2038Ile)
c.3803G>T (p.Ser1268Ile)
n.8502G>T
18g.23928180T>ACA402063148LAMA3c.3408T>A (p.Ser1136Arg)
c.8235T>A (p.Ser2745Arg)
c.4830T>A (p.Ser1610Arg)
c.8067T>A (p.Ser2689Arg)
c.3013T>A
c.3240T>A (p.Ser1080Arg)
n.2813T>A
c.8262T>A (p.Ser2754Arg)
c.8253T>A (p.Ser2751Arg)
c.8244T>A (p.Ser2748Arg)
c.8130T>A (p.Ser2710Arg)
c.7965T>A (p.Ser2655Arg)
c.6114T>A (p.Ser2038Arg)
c.3804T>A (p.Ser1268Arg)
n.8503T>A
18g.23928180T>CCA503340636LAMA3c.3408T>C (p.Ser1136=)
c.8235T>C (p.Ser2745=)
c.4830T>C (p.Ser1610=)
c.8067T>C (p.Ser2689=)
c.3013T>C
c.3240T>C (p.Ser1080=)
n.2813T>C
c.8262T>C (p.Ser2754=)
c.8253T>C (p.Ser2751=)
c.8244T>C (p.Ser2748=)
c.8130T>C (p.Ser2710=)
c.7965T>C (p.Ser2655=)
c.6114T>C (p.Ser2038=)
c.3804T>C (p.Ser1268=)
n.8503T>C
18g.23928180T>GCA402063149LAMA3c.3408T>G (p.Ser1136Arg)
c.8235T>G (p.Ser2745Arg)
c.4830T>G (p.Ser1610Arg)
c.8067T>G (p.Ser2689Arg)
c.3013T>G
c.3240T>G (p.Ser1080Arg)
n.2813T>G
c.8262T>G (p.Ser2754Arg)
c.8253T>G (p.Ser2751Arg)
c.8244T>G (p.Ser2748Arg)
c.8130T>G (p.Ser2710Arg)
c.7965T>G (p.Ser2655Arg)
c.6114T>G (p.Ser2038Arg)
c.3804T>G (p.Ser1268Arg)
n.8503T>G
18g.23928181G>ACA402063155LAMA3c.3409G>A (p.Gly1137Ser)
c.8236G>A (p.Gly2746Ser)
c.4831G>A (p.Gly1611Ser)
c.8068G>A (p.Gly2690Ser)
c.3014G>A
c.3241G>A (p.Gly1081Ser)
n.2814G>A
c.8263G>A (p.Gly2755Ser)
c.8254G>A (p.Gly2752Ser)
c.8245G>A (p.Gly2749Ser)
c.8131G>A (p.Gly2711Ser)
c.7966G>A (p.Gly2656Ser)
c.6115G>A (p.Gly2039Ser)
c.3805G>A (p.Gly1269Ser)
n.8504G>A
18g.23928181G>CCA402063157LAMA3c.3409G>C (p.Gly1137Arg)
c.8236G>C (p.Gly2746Arg)
c.4831G>C (p.Gly1611Arg)
c.8068G>C (p.Gly2690Arg)
c.3014G>C
c.3241G>C (p.Gly1081Arg)
n.2814G>C
c.8263G>C (p.Gly2755Arg)
c.8254G>C (p.Gly2752Arg)
c.8245G>C (p.Gly2749Arg)
c.8131G>C (p.Gly2711Arg)
c.7966G>C (p.Gly2656Arg)
c.6115G>C (p.Gly2039Arg)
c.3805G>C (p.Gly1269Arg)
n.8504G>C
18g.23928181G>TCA402063153LAMA3c.3409G>T (p.Gly1137Cys)
c.8236G>T (p.Gly2746Cys)
c.4831G>T (p.Gly1611Cys)
c.8068G>T (p.Gly2690Cys)
c.3014G>T
c.3241G>T (p.Gly1081Cys)
n.2814G>T
c.8263G>T (p.Gly2755Cys)
c.8254G>T (p.Gly2752Cys)
c.8245G>T (p.Gly2749Cys)
c.8131G>T (p.Gly2711Cys)
c.7966G>T (p.Gly2656Cys)
c.6115G>T (p.Gly2039Cys)
c.3805G>T (p.Gly1269Cys)
n.8504G>T
18g.23928182G>ACA402063161LAMA3c.3410G>A (p.Gly1137Asp)
c.8237G>A (p.Gly2746Asp)
c.4832G>A (p.Gly1611Asp)
c.8069G>A (p.Gly2690Asp)
c.3015G>A
c.3242G>A (p.Gly1081Asp)
n.2815G>A
c.8264G>A (p.Gly2755Asp)
c.8255G>A (p.Gly2752Asp)
c.8246G>A (p.Gly2749Asp)
c.8132G>A (p.Gly2711Asp)
c.7967G>A (p.Gly2656Asp)
c.6116G>A (p.Gly2039Asp)
c.3806G>A (p.Gly1269Asp)
n.8505G>A
 gnomAD v4
18g.23928182G>CCA402063163LAMA3c.3410G>C (p.Gly1137Ala)
c.8237G>C (p.Gly2746Ala)
c.4832G>C (p.Gly1611Ala)
c.8069G>C (p.Gly2690Ala)
c.3015G>C
c.3242G>C (p.Gly1081Ala)
n.2815G>C
c.8264G>C (p.Gly2755Ala)
c.8255G>C (p.Gly2752Ala)
c.8246G>C (p.Gly2749Ala)
c.8132G>C (p.Gly2711Ala)
c.7967G>C (p.Gly2656Ala)
c.6116G>C (p.Gly2039Ala)
c.3806G>C (p.Gly1269Ala)
n.8505G>C
18g.23928182G=CA2290334616LAMA3c.3410G= (p.Gly1137=)
c.8237G= (p.Gly2746=)
c.4832G= (p.Gly1611=)
c.8069G= (p.Gly2690=)
c.3015G=
c.3242G= (p.Gly1081=)
n.2815G=
c.8264G= (p.Gly2755=)
c.8255G= (p.Gly2752=)
c.8246G= (p.Gly2749=)
c.8132G= (p.Gly2711=)
c.7967G= (p.Gly2656=)
c.6116G= (p.Gly2039=)
c.3806G= (p.Gly1269=)
n.8505G=
18g.23928182G>TCA402063165LAMA3c.3410G>T (p.Gly1137Val)
c.8237G>T (p.Gly2746Val)
c.4832G>T (p.Gly1611Val)
c.8069G>T (p.Gly2690Val)
c.3015G>T
c.3242G>T (p.Gly1081Val)
n.2815G>T
c.8264G>T (p.Gly2755Val)
c.8255G>T (p.Gly2752Val)
c.8246G>T (p.Gly2749Val)
c.8132G>T (p.Gly2711Val)
c.7967G>T (p.Gly2656Val)
c.6116G>T (p.Gly2039Val)
c.3806G>T (p.Gly1269Val)
n.8505G>T
 dbSNP gnomAD v2 gnomAD v4
18g.23928183T>ACA503340637LAMA3c.3411T>A (p.Gly1137=)
c.8238T>A (p.Gly2746=)
c.4833T>A (p.Gly1611=)
c.8070T>A (p.Gly2690=)
c.3016T>A
c.3243T>A (p.Gly1081=)
n.2816T>A
c.8265T>A (p.Gly2755=)
c.8256T>A (p.Gly2752=)
c.8247T>A (p.Gly2749=)
c.8133T>A (p.Gly2711=)
c.7968T>A (p.Gly2656=)
c.6117T>A (p.Gly2039=)
c.3807T>A (p.Gly1269=)
n.8506T>A
18g.23928183T>CCA503340638LAMA3c.3411T>C (p.Gly1137=)
c.8238T>C (p.Gly2746=)
c.4833T>C (p.Gly1611=)
c.8070T>C (p.Gly2690=)
c.3016T>C
c.3243T>C (p.Gly1081=)
n.2816T>C
c.8265T>C (p.Gly2755=)
c.8256T>C (p.Gly2752=)
c.8247T>C (p.Gly2749=)
c.8133T>C (p.Gly2711=)
c.7968T>C (p.Gly2656=)
c.6117T>C (p.Gly2039=)
c.3807T>C (p.Gly1269=)
n.8506T>C
 dbSNP gnomAD v4
18g.23928183T>GCA503340639LAMA3c.3411T>G (p.Gly1137=)
c.8238T>G (p.Gly2746=)
c.4833T>G (p.Gly1611=)
c.8070T>G (p.Gly2690=)
c.3016T>G
c.3243T>G (p.Gly1081=)
n.2816T>G
c.8265T>G (p.Gly2755=)
c.8256T>G (p.Gly2752=)
c.8247T>G (p.Gly2749=)
c.8133T>G (p.Gly2711=)
c.7968T>G (p.Gly2656=)
c.6117T>G (p.Gly2039=)
c.3807T>G (p.Gly1269=)
n.8506T>G
18g.23928183T=CA2290334617LAMA3c.3411T= (p.Gly1137=)
c.8238T= (p.Gly2746=)
c.4833T= (p.Gly1611=)
c.8070T= (p.Gly2690=)
c.3016T=
c.3243T= (p.Gly1081=)
n.2816T=
c.8265T= (p.Gly2755=)
c.8256T= (p.Gly2752=)
c.8247T= (p.Gly2749=)
c.8133T= (p.Gly2711=)
c.7968T= (p.Gly2656=)
c.6117T= (p.Gly2039=)
c.3807T= (p.Gly1269=)
n.8506T=
18g.23928184G>ACA402063167LAMA3c.3412G>A (p.Val1138Ile)
c.8239G>A (p.Val2747Ile)
c.4834G>A (p.Val1612Ile)
c.8071G>A (p.Val2691Ile)
c.3017G>A
c.3244G>A (p.Val1082Ile)
n.2817G>A
c.8266G>A (p.Val2756Ile)
c.8257G>A (p.Val2753Ile)
c.8248G>A (p.Val2750Ile)
c.8134G>A (p.Val2712Ile)
c.7969G>A (p.Val2657Ile)
c.6118G>A (p.Val2040Ile)
c.3808G>A (p.Val1270Ile)
n.8507G>A
18g.23928184G>CCA402063168LAMA3c.3412G>C (p.Val1138Leu)
c.8239G>C (p.Val2747Leu)
c.4834G>C (p.Val1612Leu)
c.8071G>C (p.Val2691Leu)
c.3017G>C
c.3244G>C (p.Val1082Leu)
n.2817G>C
c.8266G>C (p.Val2756Leu)
c.8257G>C (p.Val2753Leu)
c.8248G>C (p.Val2750Leu)
c.8134G>C (p.Val2712Leu)
c.7969G>C (p.Val2657Leu)
c.6118G>C (p.Val2040Leu)
c.3808G>C (p.Val1270Leu)
n.8507G>C
18g.23928184G>TCA402063175LAMA3c.3412G>T (p.Val1138Phe)
c.8239G>T (p.Val2747Phe)
c.4834G>T (p.Val1612Phe)
c.8071G>T (p.Val2691Phe)
c.3017G>T
c.3244G>T (p.Val1082Phe)
n.2817G>T
c.8266G>T (p.Val2756Phe)
c.8257G>T (p.Val2753Phe)
c.8248G>T (p.Val2750Phe)
c.8134G>T (p.Val2712Phe)
c.7969G>T (p.Val2657Phe)
c.6118G>T (p.Val2040Phe)
c.3808G>T (p.Val1270Phe)
n.8507G>T
18g.23928185T>ACA402063178LAMA3c.3413T>A (p.Val1138Asp)
c.8240T>A (p.Val2747Asp)
c.4835T>A (p.Val1612Asp)
c.8072T>A (p.Val2691Asp)
c.3018T>A
c.3245T>A (p.Val1082Asp)
n.2818T>A
c.8267T>A (p.Val2756Asp)
c.8258T>A (p.Val2753Asp)
c.8249T>A (p.Val2750Asp)
c.8135T>A (p.Val2712Asp)
c.7970T>A (p.Val2657Asp)
c.6119T>A (p.Val2040Asp)
c.3809T>A (p.Val1270Asp)
n.8508T>A
18g.23928185T>CCA402063179LAMA3c.3413T>C (p.Val1138Ala)
c.8240T>C (p.Val2747Ala)
c.4835T>C (p.Val1612Ala)
c.8072T>C (p.Val2691Ala)
c.3018T>C
c.3245T>C (p.Val1082Ala)
n.2818T>C
c.8267T>C (p.Val2756Ala)
c.8258T>C (p.Val2753Ala)
c.8249T>C (p.Val2750Ala)
c.8135T>C (p.Val2712Ala)
c.7970T>C (p.Val2657Ala)
c.6119T>C (p.Val2040Ala)
c.3809T>C (p.Val1270Ala)
n.8508T>C
18g.23928185T>GCA402063182LAMA3c.3413T>G (p.Val1138Gly)
c.8240T>G (p.Val2747Gly)
c.4835T>G (p.Val1612Gly)
c.8072T>G (p.Val2691Gly)
c.3018T>G
c.3245T>G (p.Val1082Gly)
n.2818T>G
c.8267T>G (p.Val2756Gly)
c.8258T>G (p.Val2753Gly)
c.8249T>G (p.Val2750Gly)
c.8135T>G (p.Val2712Gly)
c.7970T>G (p.Val2657Gly)
c.6119T>G (p.Val2040Gly)
c.3809T>G (p.Val1270Gly)
n.8508T>G
 gnomAD v4
18g.23928186C>ACA503340641LAMA3c.3414C>A (p.Val1138=)
c.8241C>A (p.Val2747=)
c.4836C>A (p.Val1612=)
c.8073C>A (p.Val2691=)
c.3019C>A
c.3246C>A (p.Val1082=)
n.2819C>A
c.8268C>A (p.Val2756=)
c.8259C>A (p.Val2753=)
c.8250C>A (p.Val2750=)
c.8136C>A (p.Val2712=)
c.7971C>A (p.Val2657=)
c.6120C>A (p.Val2040=)
c.3810C>A (p.Val1270=)
n.8509C>A
 ClinVar
18g.23928186C=CA2290334618LAMA3c.3414C= (p.Val1138=)
c.8241C= (p.Val2747=)
c.4836C= (p.Val1612=)
c.8073C= (p.Val2691=)
c.3019C=
c.3246C= (p.Val1082=)
n.2819C=
c.8268C= (p.Val2756=)
c.8259C= (p.Val2753=)
c.8250C= (p.Val2750=)
c.8136C= (p.Val2712=)
c.7971C= (p.Val2657=)
c.6120C= (p.Val2040=)
c.3810C= (p.Val1270=)
n.8509C=
18g.23928186C>GCA503340640LAMA3c.3414C>G (p.Val1138=)
c.8241C>G (p.Val2747=)
c.4836C>G (p.Val1612=)
c.8073C>G (p.Val2691=)
c.3019C>G
c.3246C>G (p.Val1082=)
n.2819C>G
c.8268C>G (p.Val2756=)
c.8259C>G (p.Val2753=)
c.8250C>G (p.Val2750=)
c.8136C>G (p.Val2712=)
c.7971C>G (p.Val2657=)
c.6120C>G (p.Val2040=)
c.3810C>G (p.Val1270=)
n.8509C>G
18g.23928186C>TCA8916876LAMA3c.3414C>T (p.Val1138=)
c.8241C>T (p.Val2747=)
c.4836C>T (p.Val1612=)
c.8073C>T (p.Val2691=)
c.3019C>T
c.3246C>T (p.Val1082=)
n.2819C>T
c.8268C>T (p.Val2756=)
c.8259C>T (p.Val2753=)
c.8250C>T (p.Val2750=)
c.8136C>T (p.Val2712=)
c.7971C>T (p.Val2657=)
c.6120C>T (p.Val2040=)
c.3810C>T (p.Val1270=)
n.8509C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928187G>ACA8916877LAMA3c.3415G>A (p.Val1139Ile)
c.8242G>A (p.Val2748Ile)
c.4837G>A (p.Val1613Ile)
c.8074G>A (p.Val2692Ile)
c.3020G>A
c.3247G>A (p.Val1083Ile)
n.2820G>A
c.8269G>A (p.Val2757Ile)
c.8260G>A (p.Val2754Ile)
c.8251G>A (p.Val2751Ile)
c.8137G>A (p.Val2713Ile)
c.7972G>A (p.Val2658Ile)
c.6121G>A (p.Val2041Ile)
c.3811G>A (p.Val1271Ile)
n.8510G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23928187G>CCA402063187LAMA3c.3415G>C (p.Val1139Leu)
c.8242G>C (p.Val2748Leu)
c.4837G>C (p.Val1613Leu)
c.8074G>C (p.Val2692Leu)
c.3020G>C
c.3247G>C (p.Val1083Leu)
n.2820G>C
c.8269G>C (p.Val2757Leu)
c.8260G>C (p.Val2754Leu)
c.8251G>C (p.Val2751Leu)
c.8137G>C (p.Val2713Leu)
c.7972G>C (p.Val2658Leu)
c.6121G>C (p.Val2041Leu)
c.3811G>C (p.Val1271Leu)
n.8510G>C
18g.23928187G=CA2290334619LAMA3c.3415G= (p.Val1139=)
c.8242G= (p.Val2748=)
c.4837G= (p.Val1613=)
c.8074G= (p.Val2692=)
c.3020G=
c.3247G= (p.Val1083=)
n.2820G=
c.8269G= (p.Val2757=)
c.8260G= (p.Val2754=)
c.8251G= (p.Val2751=)
c.8137G= (p.Val2713=)
c.7972G= (p.Val2658=)
c.6121G= (p.Val2041=)
c.3811G= (p.Val1271=)
n.8510G=
18g.23928187G>TCA402063190LAMA3c.3415G>T (p.Val1139Phe)
c.8242G>T (p.Val2748Phe)
c.4837G>T (p.Val1613Phe)
c.8074G>T (p.Val2692Phe)
c.3020G>T
c.3247G>T (p.Val1083Phe)
n.2820G>T
c.8269G>T (p.Val2757Phe)
c.8260G>T (p.Val2754Phe)
c.8251G>T (p.Val2751Phe)
c.8137G>T (p.Val2713Phe)
c.7972G>T (p.Val2658Phe)
c.6121G>T (p.Val2041Phe)
c.3811G>T (p.Val1271Phe)
n.8510G>T
18g.23928188T>ACA402063196LAMA3c.3416T>A (p.Val1139Asp)
c.8243T>A (p.Val2748Asp)
c.4838T>A (p.Val1613Asp)
c.8075T>A (p.Val2692Asp)
c.3021T>A
c.3248T>A (p.Val1083Asp)
n.2821T>A
c.8270T>A (p.Val2757Asp)
c.8261T>A (p.Val2754Asp)
c.8252T>A (p.Val2751Asp)
c.8138T>A (p.Val2713Asp)
c.7973T>A (p.Val2658Asp)
c.6122T>A (p.Val2041Asp)
c.3812T>A (p.Val1271Asp)
n.8511T>A
18g.23928188T>CCA402063194LAMA3c.3416T>C (p.Val1139Ala)
c.8243T>C (p.Val2748Ala)
c.4838T>C (p.Val1613Ala)
c.8075T>C (p.Val2692Ala)
c.3021T>C
c.3248T>C (p.Val1083Ala)
n.2821T>C
c.8270T>C (p.Val2757Ala)
c.8261T>C (p.Val2754Ala)
c.8252T>C (p.Val2751Ala)
c.8138T>C (p.Val2713Ala)
c.7973T>C (p.Val2658Ala)
c.6122T>C (p.Val2041Ala)
c.3812T>C (p.Val1271Ala)
n.8511T>C
18g.23928188T>GCA402063192LAMA3c.3416T>G (p.Val1139Gly)
c.8243T>G (p.Val2748Gly)
c.4838T>G (p.Val1613Gly)
c.8075T>G (p.Val2692Gly)
c.3021T>G
c.3248T>G (p.Val1083Gly)
n.2821T>G
c.8270T>G (p.Val2757Gly)
c.8261T>G (p.Val2754Gly)
c.8252T>G (p.Val2751Gly)
c.8138T>G (p.Val2713Gly)
c.7973T>G (p.Val2658Gly)
c.6122T>G (p.Val2041Gly)
c.3812T>G (p.Val1271Gly)
n.8511T>G
18g.23928189T>ACA503340642LAMA3c.3417T>A (p.Val1139=)
c.8244T>A (p.Val2748=)
c.4839T>A (p.Val1613=)
c.8076T>A (p.Val2692=)
c.3022T>A
c.3249T>A (p.Val1083=)
n.2822T>A
c.8271T>A (p.Val2757=)
c.8262T>A (p.Val2754=)
c.8253T>A (p.Val2751=)
c.8139T>A (p.Val2713=)
c.7974T>A (p.Val2658=)
c.6123T>A (p.Val2041=)
c.3813T>A (p.Val1271=)
n.8512T>A
18g.23928189T>CCA503340643LAMA3c.3417T>C (p.Val1139=)
c.8244T>C (p.Val2748=)
c.4839T>C (p.Val1613=)
c.8076T>C (p.Val2692=)
c.3022T>C
c.3249T>C (p.Val1083=)
n.2822T>C
c.8271T>C (p.Val2757=)
c.8262T>C (p.Val2754=)
c.8253T>C (p.Val2751=)
c.8139T>C (p.Val2713=)
c.7974T>C (p.Val2658=)
c.6123T>C (p.Val2041=)
c.3813T>C (p.Val1271=)
n.8512T>C
18g.23928189T>GCA503340644LAMA3c.3417T>G (p.Val1139=)
c.8244T>G (p.Val2748=)
c.4839T>G (p.Val1613=)
c.8076T>G (p.Val2692=)
c.3022T>G
c.3249T>G (p.Val1083=)
n.2822T>G
c.8271T>G (p.Val2757=)
c.8262T>G (p.Val2754=)
c.8253T>G (p.Val2751=)
c.8139T>G (p.Val2713=)
c.7974T>G (p.Val2658=)
c.6123T>G (p.Val2041=)
c.3813T>G (p.Val1271=)
n.8512T>G
18g.23928190A>CCA503340645LAMA3c.3418A>C (p.Arg1140=)
c.8245A>C (p.Arg2749=)
c.4840A>C (p.Arg1614=)
c.8077A>C (p.Arg2693=)
c.3023A>C
c.3250A>C (p.Arg1084=)
n.2823A>C
c.8272A>C (p.Arg2758=)
c.8263A>C (p.Arg2755=)
c.8254A>C (p.Arg2752=)
c.8140A>C (p.Arg2714=)
c.7975A>C (p.Arg2659=)
c.6124A>C (p.Arg2042=)
c.3814A>C (p.Arg1272=)
n.8513A>C
18g.23928190A>GCA402063198LAMA3c.3418A>G (p.Arg1140Gly)
c.8245A>G (p.Arg2749Gly)
c.4840A>G (p.Arg1614Gly)
c.8077A>G (p.Arg2693Gly)
c.3023A>G
c.3250A>G (p.Arg1084Gly)
n.2823A>G
c.8272A>G (p.Arg2758Gly)
c.8263A>G (p.Arg2755Gly)
c.8254A>G (p.Arg2752Gly)
c.8140A>G (p.Arg2714Gly)
c.7975A>G (p.Arg2659Gly)
c.6124A>G (p.Arg2042Gly)
c.3814A>G (p.Arg1272Gly)
n.8513A>G
18g.23928190A>TCA402063200LAMA3c.3418A>T (p.Arg1140Ter)
c.8245A>T (p.Arg2749Ter)
c.4840A>T (p.Arg1614Ter)
c.8077A>T (p.Arg2693Ter)
c.3023A>T
c.3250A>T (p.Arg1084Ter)
n.2823A>T
c.8272A>T (p.Arg2758Ter)
c.8263A>T (p.Arg2755Ter)
c.8254A>T (p.Arg2752Ter)
c.8140A>T (p.Arg2714Ter)
c.7975A>T (p.Arg2659Ter)
c.6124A>T (p.Arg2042Ter)
c.3814A>T (p.Arg1272Ter)
n.8513A>T
18g.23928191G>ACA402063203LAMA3c.3419G>A (p.Arg1140Lys)
c.8246G>A (p.Arg2749Lys)
c.4841G>A (p.Arg1614Lys)
c.8078G>A (p.Arg2693Lys)
c.3024G>A
c.3251G>A (p.Arg1084Lys)
n.2824G>A
c.8273G>A (p.Arg2758Lys)
c.8264G>A (p.Arg2755Lys)
c.8255G>A (p.Arg2752Lys)
c.8141G>A (p.Arg2714Lys)
c.7976G>A (p.Arg2659Lys)
c.6125G>A (p.Arg2042Lys)
c.3815G>A (p.Arg1272Lys)
n.8514G>A
18g.23928191G>CCA402063205LAMA3c.3419G>C (p.Arg1140Thr)
c.8246G>C (p.Arg2749Thr)
c.4841G>C (p.Arg1614Thr)
c.8078G>C (p.Arg2693Thr)
c.3024G>C
c.3251G>C (p.Arg1084Thr)
n.2824G>C
c.8273G>C (p.Arg2758Thr)
c.8264G>C (p.Arg2755Thr)
c.8255G>C (p.Arg2752Thr)
c.8141G>C (p.Arg2714Thr)
c.7976G>C (p.Arg2659Thr)
c.6125G>C (p.Arg2042Thr)
c.3815G>C (p.Arg1272Thr)
n.8514G>C
18g.23928191G>TCA402063207LAMA3c.3419G>T (p.Arg1140Ile)
c.8246G>T (p.Arg2749Ile)
c.4841G>T (p.Arg1614Ile)
c.8078G>T (p.Arg2693Ile)
c.3024G>T
c.3251G>T (p.Arg1084Ile)
n.2824G>T
c.8273G>T (p.Arg2758Ile)
c.8264G>T (p.Arg2755Ile)
c.8255G>T (p.Arg2752Ile)
c.8141G>T (p.Arg2714Ile)
c.7976G>T (p.Arg2659Ile)
c.6125G>T (p.Arg2042Ile)
c.3815G>T (p.Arg1272Ile)
n.8514G>T
18g.23928192A>CCA402063209LAMA3c.3420A>C (p.Arg1140Ser)
c.8247A>C (p.Arg2749Ser)
c.4842A>C (p.Arg1614Ser)
c.8079A>C (p.Arg2693Ser)
c.3025A>C
c.3252A>C (p.Arg1084Ser)
n.2825A>C
c.8274A>C (p.Arg2758Ser)
c.8265A>C (p.Arg2755Ser)
c.8256A>C (p.Arg2752Ser)
c.8142A>C (p.Arg2714Ser)
c.7977A>C (p.Arg2659Ser)
c.6126A>C (p.Arg2042Ser)
c.3816A>C (p.Arg1272Ser)
n.8515A>C
18g.23928192A>GCA503340646LAMA3c.3420A>G (p.Arg1140=)
c.8247A>G (p.Arg2749=)
c.4842A>G (p.Arg1614=)
c.8079A>G (p.Arg2693=)
c.3025A>G
c.3252A>G (p.Arg1084=)
n.2825A>G
c.8274A>G (p.Arg2758=)
c.8265A>G (p.Arg2755=)
c.8256A>G (p.Arg2752=)
c.8142A>G (p.Arg2714=)
c.7977A>G (p.Arg2659=)
c.6126A>G (p.Arg2042=)
c.3816A>G (p.Arg1272=)
n.8515A>G
18g.23928192A>TCA402063210LAMA3c.3420A>T (p.Arg1140Ser)
c.8247A>T (p.Arg2749Ser)
c.4842A>T (p.Arg1614Ser)
c.8079A>T (p.Arg2693Ser)
c.3025A>T
c.3252A>T (p.Arg1084Ser)
n.2825A>T
c.8274A>T (p.Arg2758Ser)
c.8265A>T (p.Arg2755Ser)
c.8256A>T (p.Arg2752Ser)
c.8142A>T (p.Arg2714Ser)
c.7977A>T (p.Arg2659Ser)
c.6126A>T (p.Arg2042Ser)
c.3816A>T (p.Arg1272Ser)
n.8515A>T
18g.23928193T>ACA402063212LAMA3c.3421T>A (p.Leu1141Met)
c.8248T>A (p.Leu2750Met)
c.4843T>A (p.Leu1615Met)
c.8080T>A (p.Leu2694Met)
c.3026T>A
c.3253T>A (p.Leu1085Met)
n.2826T>A
c.8275T>A (p.Leu2759Met)
c.8266T>A (p.Leu2756Met)
c.8257T>A (p.Leu2753Met)
c.8143T>A (p.Leu2715Met)
c.7978T>A (p.Leu2660Met)
c.6127T>A (p.Leu2043Met)
c.3817T>A (p.Leu1273Met)
n.8516T>A
18g.23928193T>CCA8916878LAMA3c.3421T>C (p.Leu1141=)
c.8248T>C (p.Leu2750=)
c.4843T>C (p.Leu1615=)
c.8080T>C (p.Leu2694=)
c.3026T>C
c.3253T>C (p.Leu1085=)
n.2826T>C
c.8275T>C (p.Leu2759=)
c.8266T>C (p.Leu2756=)
c.8257T>C (p.Leu2753=)
c.8143T>C (p.Leu2715=)
c.7978T>C (p.Leu2660=)
c.6127T>C (p.Leu2043=)
c.3817T>C (p.Leu1273=)
n.8516T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23928193T>GCA402063213LAMA3c.3421T>G (p.Leu1141Val)
c.8248T>G (p.Leu2750Val)
c.4843T>G (p.Leu1615Val)
c.8080T>G (p.Leu2694Val)
c.3026T>G
c.3253T>G (p.Leu1085Val)
n.2826T>G
c.8275T>G (p.Leu2759Val)
c.8266T>G (p.Leu2756Val)
c.8257T>G (p.Leu2753Val)
c.8143T>G (p.Leu2715Val)
c.7978T>G (p.Leu2660Val)
c.6127T>G (p.Leu2043Val)
c.3817T>G (p.Leu1273Val)
n.8516T>G
18g.23928193T=CA2290334620LAMA3c.3421T= (p.Leu1141=)
c.8248T= (p.Leu2750=)
c.4843T= (p.Leu1615=)
c.8080T= (p.Leu2694=)
c.3026T=
c.3253T= (p.Leu1085=)
n.2826T=
c.8275T= (p.Leu2759=)
c.8266T= (p.Leu2756=)
c.8257T= (p.Leu2753=)
c.8143T= (p.Leu2715=)
c.7978T= (p.Leu2660=)
c.6127T= (p.Leu2043=)
c.3817T= (p.Leu1273=)
n.8516T=
18g.23928194T>ACA402063214LAMA3c.3422T>A (p.Leu1141Ter)
c.8249T>A (p.Leu2750Ter)
c.4844T>A (p.Leu1615Ter)
c.8081T>A (p.Leu2694Ter)
c.3027T>A
c.3254T>A (p.Leu1085Ter)
n.2827T>A
c.8276T>A (p.Leu2759Ter)
c.8267T>A (p.Leu2756Ter)
c.8258T>A (p.Leu2753Ter)
c.8144T>A (p.Leu2715Ter)
c.7979T>A (p.Leu2660Ter)
c.6128T>A (p.Leu2043Ter)
c.3818T>A (p.Leu1273Ter)
n.8517T>A
18g.23928194T>CCA402063215LAMA3c.3422T>C (p.Leu1141Ser)
c.8249T>C (p.Leu2750Ser)
c.4844T>C (p.Leu1615Ser)
c.8081T>C (p.Leu2694Ser)
c.3027T>C
c.3254T>C (p.Leu1085Ser)
n.2827T>C
c.8276T>C (p.Leu2759Ser)
c.8267T>C (p.Leu2756Ser)
c.8258T>C (p.Leu2753Ser)
c.8144T>C (p.Leu2715Ser)
c.7979T>C (p.Leu2660Ser)
c.6128T>C (p.Leu2043Ser)
c.3818T>C (p.Leu1273Ser)
n.8517T>C
 gnomAD v4
18g.23928194T>GCA402063217LAMA3c.3422T>G (p.Leu1141Trp)
c.8249T>G (p.Leu2750Trp)
c.4844T>G (p.Leu1615Trp)
c.8081T>G (p.Leu2694Trp)
c.3027T>G
c.3254T>G (p.Leu1085Trp)
n.2827T>G
c.8276T>G (p.Leu2759Trp)
c.8267T>G (p.Leu2756Trp)
c.8258T>G (p.Leu2753Trp)
c.8144T>G (p.Leu2715Trp)
c.7979T>G (p.Leu2660Trp)
c.6128T>G (p.Leu2043Trp)
c.3818T>G (p.Leu1273Trp)
n.8517T>G
18g.23928195G>ACA8916879LAMA3c.3423G>A (p.Leu1141=)
c.8250G>A (p.Leu2750=)
c.4845G>A (p.Leu1615=)
c.8082G>A (p.Leu2694=)
c.3028G>A
c.3255G>A (p.Leu1085=)
n.2828G>A
c.8277G>A (p.Leu2759=)
c.8268G>A (p.Leu2756=)
c.8259G>A (p.Leu2753=)
c.8145G>A (p.Leu2715=)
c.7980G>A (p.Leu2660=)
c.6129G>A (p.Leu2043=)
c.3819G>A (p.Leu1273=)
n.8518G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23928195G>CCA402063221LAMA3c.3423G>C (p.Leu1141Phe)
c.8250G>C (p.Leu2750Phe)
c.4845G>C (p.Leu1615Phe)
c.8082G>C (p.Leu2694Phe)
c.3028G>C
c.3255G>C (p.Leu1085Phe)
n.2828G>C
c.8277G>C (p.Leu2759Phe)
c.8268G>C (p.Leu2756Phe)
c.8259G>C (p.Leu2753Phe)
c.8145G>C (p.Leu2715Phe)
c.7980G>C (p.Leu2660Phe)
c.6129G>C (p.Leu2043Phe)
c.3819G>C (p.Leu1273Phe)
n.8518G>C
18g.23928195G=CA2290334621LAMA3c.3423G= (p.Leu1141=)
c.8250G= (p.Leu2750=)
c.4845G= (p.Leu1615=)
c.8082G= (p.Leu2694=)
c.3028G=
c.3255G= (p.Leu1085=)
n.2828G=
c.8277G= (p.Leu2759=)
c.8268G= (p.Leu2756=)
c.8259G= (p.Leu2753=)
c.8145G= (p.Leu2715=)
c.7980G= (p.Leu2660=)
c.6129G= (p.Leu2043=)
c.3819G= (p.Leu1273=)
n.8518G=
18g.23928195G>TCA402063219LAMA3c.3423G>T (p.Leu1141Phe)
c.8250G>T (p.Leu2750Phe)
c.4845G>T (p.Leu1615Phe)
c.8082G>T (p.Leu2694Phe)
c.3028G>T
c.3255G>T (p.Leu1085Phe)
n.2828G>T
c.8277G>T (p.Leu2759Phe)
c.8268G>T (p.Leu2756Phe)
c.8259G>T (p.Leu2753Phe)
c.8145G>T (p.Leu2715Phe)
c.7980G>T (p.Leu2660Phe)
c.6129G>T (p.Leu2043Phe)
c.3819G>T (p.Leu1273Phe)
n.8518G>T
18g.23928196A>CCA402063229LAMA3c.3424A>C (p.Asn1142His)
c.8251A>C (p.Asn2751His)
c.4846A>C (p.Asn1616His)
c.8083A>C (p.Asn2695His)
c.3029A>C
c.3256A>C (p.Asn1086His)
n.2829A>C
c.8278A>C (p.Asn2760His)
c.8269A>C (p.Asn2757His)
c.8260A>C (p.Asn2754His)
c.8146A>C (p.Asn2716His)
c.7981A>C (p.Asn2661His)
c.6130A>C (p.Asn2044His)
c.3820A>C (p.Asn1274His)
n.8519A>C
18g.23928196A>GCA402063225LAMA3c.3424A>G (p.Asn1142Asp)
c.8251A>G (p.Asn2751Asp)
c.4846A>G (p.Asn1616Asp)
c.8083A>G (p.Asn2695Asp)
c.3029A>G
c.3256A>G (p.Asn1086Asp)
n.2829A>G
c.8278A>G (p.Asn2760Asp)
c.8269A>G (p.Asn2757Asp)
c.8260A>G (p.Asn2754Asp)
c.8146A>G (p.Asn2716Asp)
c.7981A>G (p.Asn2661Asp)
c.6130A>G (p.Asn2044Asp)
c.3820A>G (p.Asn1274Asp)
n.8519A>G
18g.23928196A>TCA402063227LAMA3c.3424A>T (p.Asn1142Tyr)
c.8251A>T (p.Asn2751Tyr)
c.4846A>T (p.Asn1616Tyr)
c.8083A>T (p.Asn2695Tyr)
c.3029A>T
c.3256A>T (p.Asn1086Tyr)
n.2829A>T
c.8278A>T (p.Asn2760Tyr)
c.8269A>T (p.Asn2757Tyr)
c.8260A>T (p.Asn2754Tyr)
c.8146A>T (p.Asn2716Tyr)
c.7981A>T (p.Asn2661Tyr)
c.6130A>T (p.Asn2044Tyr)
c.3820A>T (p.Asn1274Tyr)
n.8519A>T
18g.23928197A=CA2290334622LAMA3c.3425A= (p.Asn1142=)
c.8252A= (p.Asn2751=)
c.4847A= (p.Asn1616=)
c.8084A= (p.Asn2695=)
c.3030A=
c.3257A= (p.Asn1086=)
n.2830A=
c.8279A= (p.Asn2760=)
c.8270A= (p.Asn2757=)
c.8261A= (p.Asn2754=)
c.8147A= (p.Asn2716=)
c.7982A= (p.Asn2661=)
c.6131A= (p.Asn2044=)
c.3821A= (p.Asn1274=)
n.8520A=
18g.23928197A>CCA402063230LAMA3c.3425A>C (p.Asn1142Thr)
c.8252A>C (p.Asn2751Thr)
c.4847A>C (p.Asn1616Thr)
c.8084A>C (p.Asn2695Thr)
c.3030A>C
c.3257A>C (p.Asn1086Thr)
n.2830A>C
c.8279A>C (p.Asn2760Thr)
c.8270A>C (p.Asn2757Thr)
c.8261A>C (p.Asn2754Thr)
c.8147A>C (p.Asn2716Thr)
c.7982A>C (p.Asn2661Thr)
c.6131A>C (p.Asn2044Thr)
c.3821A>C (p.Asn1274Thr)
n.8520A>C
18g.23928197A>GCA297122363LAMA3c.3425A>G (p.Asn1142Ser)
c.8252A>G (p.Asn2751Ser)
c.4847A>G (p.Asn1616Ser)
c.8084A>G (p.Asn2695Ser)
c.3030A>G
c.3257A>G (p.Asn1086Ser)
n.2830A>G
c.8279A>G (p.Asn2760Ser)
c.8270A>G (p.Asn2757Ser)
c.8261A>G (p.Asn2754Ser)
c.8147A>G (p.Asn2716Ser)
c.7982A>G (p.Asn2661Ser)
c.6131A>G (p.Asn2044Ser)
c.3821A>G (p.Asn1274Ser)
n.8520A>G
 dbSNP gnomAD v3 gnomAD v4
18g.23928197A>TCA402063233LAMA3c.3425A>T (p.Asn1142Ile)
c.8252A>T (p.Asn2751Ile)
c.4847A>T (p.Asn1616Ile)
c.8084A>T (p.Asn2695Ile)
c.3030A>T
c.3257A>T (p.Asn1086Ile)
n.2830A>T
c.8279A>T (p.Asn2760Ile)
c.8270A>T (p.Asn2757Ile)
c.8261A>T (p.Asn2754Ile)
c.8147A>T (p.Asn2716Ile)
c.7982A>T (p.Asn2661Ile)
c.6131A>T (p.Asn2044Ile)
c.3821A>T (p.Asn1274Ile)
n.8520A>T
18g.23928198T>ACA402063236LAMA3c.3426T>A (p.Asn1142Lys)
c.8253T>A (p.Asn2751Lys)
c.4848T>A (p.Asn1616Lys)
c.8085T>A (p.Asn2695Lys)
c.3031T>A
c.3258T>A (p.Asn1086Lys)
n.2831T>A
c.8280T>A (p.Asn2760Lys)
c.8271T>A (p.Asn2757Lys)
c.8262T>A (p.Asn2754Lys)
c.8148T>A (p.Asn2716Lys)
c.7983T>A (p.Asn2661Lys)
c.6132T>A (p.Asn2044Lys)
c.3822T>A (p.Asn1274Lys)
n.8521T>A
 gnomAD v4
18g.23928198T>CCA503340647LAMA3c.3426T>C (p.Asn1142=)
c.8253T>C (p.Asn2751=)
c.4848T>C (p.Asn1616=)
c.8085T>C (p.Asn2695=)
c.3031T>C
c.3258T>C (p.Asn1086=)
n.2831T>C
c.8280T>C (p.Asn2760=)
c.8271T>C (p.Asn2757=)
c.8262T>C (p.Asn2754=)
c.8148T>C (p.Asn2716=)
c.7983T>C (p.Asn2661=)
c.6132T>C (p.Asn2044=)
c.3822T>C (p.Asn1274=)
n.8521T>C
 ClinVar dbSNP
18g.23928198T>GCA402063238LAMA3c.3426T>G (p.Asn1142Lys)
c.8253T>G (p.Asn2751Lys)
c.4848T>G (p.Asn1616Lys)
c.8085T>G (p.Asn2695Lys)
c.3031T>G
c.3258T>G (p.Asn1086Lys)
n.2831T>G
c.8280T>G (p.Asn2760Lys)
c.8271T>G (p.Asn2757Lys)
c.8262T>G (p.Asn2754Lys)
c.8148T>G (p.Asn2716Lys)
c.7983T>G (p.Asn2661Lys)
c.6132T>G (p.Asn2044Lys)
c.3822T>G (p.Asn1274Lys)
n.8521T>G
18g.23928199G>ACA8916880LAMA3c.3427G>A (p.Asp1143Asn)
c.8254G>A (p.Asp2752Asn)
c.4849G>A (p.Asp1617Asn)
c.8086G>A (p.Asp2696Asn)
c.3032G>A
c.3259G>A (p.Asp1087Asn)
n.2832G>A
c.8281G>A (p.Asp2761Asn)
c.8272G>A (p.Asp2758Asn)
c.8263G>A (p.Asp2755Asn)
c.8149G>A (p.Asp2717Asn)
c.7984G>A (p.Asp2662Asn)
c.6133G>A (p.Asp2045Asn)
c.3823G>A (p.Asp1275Asn)
n.8522G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928199G>CCA402063241LAMA3c.3427G>C (p.Asp1143His)
c.8254G>C (p.Asp2752His)
c.4849G>C (p.Asp1617His)
c.8086G>C (p.Asp2696His)
c.3032G>C
c.3259G>C (p.Asp1087His)
n.2832G>C
c.8281G>C (p.Asp2761His)
c.8272G>C (p.Asp2758His)
c.8263G>C (p.Asp2755His)
c.8149G>C (p.Asp2717His)
c.7984G>C (p.Asp2662His)
c.6133G>C (p.Asp2045His)
c.3823G>C (p.Asp1275His)
n.8522G>C
18g.23928199G=CA2290334623LAMA3c.3427G= (p.Asp1143=)
c.8254G= (p.Asp2752=)
c.4849G= (p.Asp1617=)
c.8086G= (p.Asp2696=)
c.3032G=
c.3259G= (p.Asp1087=)
n.2832G=
c.8281G= (p.Asp2761=)
c.8272G= (p.Asp2758=)
c.8263G= (p.Asp2755=)
c.8149G= (p.Asp2717=)
c.7984G= (p.Asp2662=)
c.6133G= (p.Asp2045=)
c.3823G= (p.Asp1275=)
n.8522G=
18g.23928199G>TCA402063249LAMA3c.3427G>T (p.Asp1143Tyr)
c.8254G>T (p.Asp2752Tyr)
c.4849G>T (p.Asp1617Tyr)
c.8086G>T (p.Asp2696Tyr)
c.3032G>T
c.3259G>T (p.Asp1087Tyr)
n.2832G>T
c.8281G>T (p.Asp2761Tyr)
c.8272G>T (p.Asp2758Tyr)
c.8263G>T (p.Asp2755Tyr)
c.8149G>T (p.Asp2717Tyr)
c.7984G>T (p.Asp2662Tyr)
c.6133G>T (p.Asp2045Tyr)
c.3823G>T (p.Asp1275Tyr)
n.8522G>T
18g.23928200A>CCA402063253LAMA3c.3428A>C (p.Asp1143Ala)
c.8255A>C (p.Asp2752Ala)
c.4850A>C (p.Asp1617Ala)
c.8087A>C (p.Asp2696Ala)
c.3033A>C
c.3260A>C (p.Asp1087Ala)
n.2833A>C
c.8282A>C (p.Asp2761Ala)
c.8273A>C (p.Asp2758Ala)
c.8264A>C (p.Asp2755Ala)
c.8150A>C (p.Asp2717Ala)
c.7985A>C (p.Asp2662Ala)
c.6134A>C (p.Asp2045Ala)
c.3824A>C (p.Asp1275Ala)
n.8523A>C
18g.23928200A>GCA402063254LAMA3c.3428A>G (p.Asp1143Gly)
c.8255A>G (p.Asp2752Gly)
c.4850A>G (p.Asp1617Gly)
c.8087A>G (p.Asp2696Gly)
c.3033A>G
c.3260A>G (p.Asp1087Gly)
n.2833A>G
c.8282A>G (p.Asp2761Gly)
c.8273A>G (p.Asp2758Gly)
c.8264A>G (p.Asp2755Gly)
c.8150A>G (p.Asp2717Gly)
c.7985A>G (p.Asp2662Gly)
c.6134A>G (p.Asp2045Gly)
c.3824A>G (p.Asp1275Gly)
n.8523A>G
18g.23928200A>TCA402063255LAMA3c.3428A>T (p.Asp1143Val)
c.8255A>T (p.Asp2752Val)
c.4850A>T (p.Asp1617Val)
c.8087A>T (p.Asp2696Val)
c.3033A>T
c.3260A>T (p.Asp1087Val)
n.2833A>T
c.8282A>T (p.Asp2761Val)
c.8273A>T (p.Asp2758Val)
c.8264A>T (p.Asp2755Val)
c.8150A>T (p.Asp2717Val)
c.7985A>T (p.Asp2662Val)
c.6134A>T (p.Asp2045Val)
c.3824A>T (p.Asp1275Val)
n.8523A>T
18g.23928201T>ACA402063256LAMA3c.3429T>A (p.Asp1143Glu)
c.8256T>A (p.Asp2752Glu)
c.4851T>A (p.Asp1617Glu)
c.8088T>A (p.Asp2696Glu)
c.3034T>A
c.3261T>A (p.Asp1087Glu)
n.2834T>A
c.8283T>A (p.Asp2761Glu)
c.8274T>A (p.Asp2758Glu)
c.8265T>A (p.Asp2755Glu)
c.8151T>A (p.Asp2717Glu)
c.7986T>A (p.Asp2662Glu)
c.6135T>A (p.Asp2045Glu)
c.3825T>A (p.Asp1275Glu)
n.8524T>A
18g.23928201T>CCA503340648LAMA3c.3429T>C (p.Asp1143=)
c.8256T>C (p.Asp2752=)
c.4851T>C (p.Asp1617=)
c.8088T>C (p.Asp2696=)
c.3034T>C
c.3261T>C (p.Asp1087=)
n.2834T>C
c.8283T>C (p.Asp2761=)
c.8274T>C (p.Asp2758=)
c.8265T>C (p.Asp2755=)
c.8151T>C (p.Asp2717=)
c.7986T>C (p.Asp2662=)
c.6135T>C (p.Asp2045=)
c.3825T>C (p.Asp1275=)
n.8524T>C
18g.23928201T>GCA402063257LAMA3c.3429T>G (p.Asp1143Glu)
c.8256T>G (p.Asp2752Glu)
c.4851T>G (p.Asp1617Glu)
c.8088T>G (p.Asp2696Glu)
c.3034T>G
c.3261T>G (p.Asp1087Glu)
n.2834T>G
c.8283T>G (p.Asp2761Glu)
c.8274T>G (p.Asp2758Glu)
c.8265T>G (p.Asp2755Glu)
c.8151T>G (p.Asp2717Glu)
c.7986T>G (p.Asp2662Glu)
c.6135T>G (p.Asp2045Glu)
c.3825T>G (p.Asp1275Glu)
n.8524T>G
18g.23928202A>CCA402063258LAMA3c.3430A>C (p.Thr1144Pro)
c.8257A>C (p.Thr2753Pro)
c.4852A>C (p.Thr1618Pro)
c.8089A>C (p.Thr2697Pro)
c.3035A>C
c.3262A>C (p.Thr1088Pro)
n.2835A>C
c.8284A>C (p.Thr2762Pro)
c.8275A>C (p.Thr2759Pro)
c.8266A>C (p.Thr2756Pro)
c.8152A>C (p.Thr2718Pro)
c.7987A>C (p.Thr2663Pro)
c.6136A>C (p.Thr2046Pro)
c.3826A>C (p.Thr1276Pro)
n.8525A>C
18g.23928202A>GCA402063260LAMA3c.3430A>G (p.Thr1144Ala)
c.8257A>G (p.Thr2753Ala)
c.4852A>G (p.Thr1618Ala)
c.8089A>G (p.Thr2697Ala)
c.3035A>G
c.3262A>G (p.Thr1088Ala)
n.2835A>G
c.8284A>G (p.Thr2762Ala)
c.8275A>G (p.Thr2759Ala)
c.8266A>G (p.Thr2756Ala)
c.8152A>G (p.Thr2718Ala)
c.7987A>G (p.Thr2663Ala)
c.6136A>G (p.Thr2046Ala)
c.3826A>G (p.Thr1276Ala)
n.8525A>G
18g.23928202A>TCA402063259LAMA3c.3430A>T (p.Thr1144Ser)
c.8257A>T (p.Thr2753Ser)
c.4852A>T (p.Thr1618Ser)
c.8089A>T (p.Thr2697Ser)
c.3035A>T
c.3262A>T (p.Thr1088Ser)
n.2835A>T
c.8284A>T (p.Thr2762Ser)
c.8275A>T (p.Thr2759Ser)
c.8266A>T (p.Thr2756Ser)
c.8152A>T (p.Thr2718Ser)
c.7987A>T (p.Thr2663Ser)
c.6136A>T (p.Thr2046Ser)
c.3826A>T (p.Thr1276Ser)
n.8525A>T
18g.23928203C>ACA402063261LAMA3c.3431C>A (p.Thr1144Asn)
c.8258C>A (p.Thr2753Asn)
c.4853C>A (p.Thr1618Asn)
c.8090C>A (p.Thr2697Asn)
c.3036C>A
c.3263C>A (p.Thr1088Asn)
n.2836C>A
c.8285C>A (p.Thr2762Asn)
c.8276C>A (p.Thr2759Asn)
c.8267C>A (p.Thr2756Asn)
c.8153C>A (p.Thr2718Asn)
c.7988C>A (p.Thr2663Asn)
c.6137C>A (p.Thr2046Asn)
c.3827C>A (p.Thr1276Asn)
n.8526C>A
18g.23928203C>GCA402063262LAMA3c.3431C>G (p.Thr1144Ser)
c.8258C>G (p.Thr2753Ser)
c.4853C>G (p.Thr1618Ser)
c.8090C>G (p.Thr2697Ser)
c.3036C>G
c.3263C>G (p.Thr1088Ser)
n.2836C>G
c.8285C>G (p.Thr2762Ser)
c.8276C>G (p.Thr2759Ser)
c.8267C>G (p.Thr2756Ser)
c.8153C>G (p.Thr2718Ser)
c.7988C>G (p.Thr2663Ser)
c.6137C>G (p.Thr2046Ser)
c.3827C>G (p.Thr1276Ser)
n.8526C>G
18g.23928203C>TCA402063263LAMA3c.3431C>T (p.Thr1144Ile)
c.8258C>T (p.Thr2753Ile)
c.4853C>T (p.Thr1618Ile)
c.8090C>T (p.Thr2697Ile)
c.3036C>T
c.3263C>T (p.Thr1088Ile)
n.2836C>T
c.8285C>T (p.Thr2762Ile)
c.8276C>T (p.Thr2759Ile)
c.8267C>T (p.Thr2756Ile)
c.8153C>T (p.Thr2718Ile)
c.7988C>T (p.Thr2663Ile)
c.6137C>T (p.Thr2046Ile)
c.3827C>T (p.Thr1276Ile)
n.8526C>T
 gnomAD v4
18g.23928204T>ACA503340649LAMA3c.3432T>A (p.Thr1144=)
c.8259T>A (p.Thr2753=)
c.4854T>A (p.Thr1618=)
c.8091T>A (p.Thr2697=)
c.3037T>A
c.3264T>A (p.Thr1088=)
n.2837T>A
c.8286T>A (p.Thr2762=)
c.8277T>A (p.Thr2759=)
c.8268T>A (p.Thr2756=)
c.8154T>A (p.Thr2718=)
c.7989T>A (p.Thr2663=)
c.6138T>A (p.Thr2046=)
c.3828T>A (p.Thr1276=)
n.8527T>A
 dbSNP
18g.23928204T>CCA503340650LAMA3c.3432T>C (p.Thr1144=)
c.8259T>C (p.Thr2753=)
c.4854T>C (p.Thr1618=)
c.8091T>C (p.Thr2697=)
c.3037T>C
c.3264T>C (p.Thr1088=)
n.2837T>C
c.8286T>C (p.Thr2762=)
c.8277T>C (p.Thr2759=)
c.8268T>C (p.Thr2756=)
c.8154T>C (p.Thr2718=)
c.7989T>C (p.Thr2663=)
c.6138T>C (p.Thr2046=)
c.3828T>C (p.Thr1276=)
n.8527T>C
 ClinVar dbSNP gnomAD v4
18g.23928204T>GCA503340651LAMA3c.3432T>G (p.Thr1144=)
c.8259T>G (p.Thr2753=)
c.4854T>G (p.Thr1618=)
c.8091T>G (p.Thr2697=)
c.3037T>G
c.3264T>G (p.Thr1088=)
n.2837T>G
c.8286T>G (p.Thr2762=)
c.8277T>G (p.Thr2759=)
c.8268T>G (p.Thr2756=)
c.8154T>G (p.Thr2718=)
c.7989T>G (p.Thr2663=)
c.6138T>G (p.Thr2046=)
c.3828T>G (p.Thr1276=)
n.8527T>G
 gnomAD v4
18g.23928204T=CA2290334624LAMA3c.3432T= (p.Thr1144=)
c.8259T= (p.Thr2753=)
c.4854T= (p.Thr1618=)
c.8091T= (p.Thr2697=)
c.3037T=
c.3264T= (p.Thr1088=)
n.2837T=
c.8286T= (p.Thr2762=)
c.8277T= (p.Thr2759=)
c.8268T= (p.Thr2756=)
c.8154T= (p.Thr2718=)
c.7989T= (p.Thr2663=)
c.6138T= (p.Thr2046=)
c.3828T= (p.Thr1276=)
n.8527T=
18g.23928205G>ACA402063264LAMA3c.3433G>A (p.Val1145Met)
c.8260G>A (p.Val2754Met)
c.4855G>A (p.Val1619Met)
c.8092G>A (p.Val2698Met)
c.3038G>A
c.3265G>A (p.Val1089Met)
n.2838G>A
c.8287G>A (p.Val2763Met)
c.8278G>A (p.Val2760Met)
c.8269G>A (p.Val2757Met)
c.8155G>A (p.Val2719Met)
c.7990G>A (p.Val2664Met)
c.6139G>A (p.Val2047Met)
c.3829G>A (p.Val1277Met)
n.8528G>A
18g.23928205G>CCA402063265LAMA3c.3433G>C (p.Val1145Leu)
c.8260G>C (p.Val2754Leu)
c.4855G>C (p.Val1619Leu)
c.8092G>C (p.Val2698Leu)
c.3038G>C
c.3265G>C (p.Val1089Leu)
n.2838G>C
c.8287G>C (p.Val2763Leu)
c.8278G>C (p.Val2760Leu)
c.8269G>C (p.Val2757Leu)
c.8155G>C (p.Val2719Leu)
c.7990G>C (p.Val2664Leu)
c.6139G>C (p.Val2047Leu)
c.3829G>C (p.Val1277Leu)
n.8528G>C
18g.23928205G=CA2290334625LAMA3c.3433G= (p.Val1145=)
c.8260G= (p.Val2754=)
c.4855G= (p.Val1619=)
c.8092G= (p.Val2698=)
c.3038G=
c.3265G= (p.Val1089=)
n.2838G=
c.8287G= (p.Val2763=)
c.8278G= (p.Val2760=)
c.8269G= (p.Val2757=)
c.8155G= (p.Val2719=)
c.7990G= (p.Val2664=)
c.6139G= (p.Val2047=)
c.3829G= (p.Val1277=)
n.8528G=
18g.23928205G>TCA402063266LAMA3c.3433G>T (p.Val1145Leu)
c.8260G>T (p.Val2754Leu)
c.4855G>T (p.Val1619Leu)
c.8092G>T (p.Val2698Leu)
c.3038G>T
c.3265G>T (p.Val1089Leu)
n.2838G>T
c.8287G>T (p.Val2763Leu)
c.8278G>T (p.Val2760Leu)
c.8269G>T (p.Val2757Leu)
c.8155G>T (p.Val2719Leu)
c.7990G>T (p.Val2664Leu)
c.6139G>T (p.Val2047Leu)
c.3829G>T (p.Val1277Leu)
n.8528G>T
 dbSNP gnomAD v3 gnomAD v4
18g.23928206T>ACA402063269LAMA3c.3434T>A (p.Val1145Glu)
c.8261T>A (p.Val2754Glu)
c.4856T>A (p.Val1619Glu)
c.8093T>A (p.Val2698Glu)
c.3039T>A
c.3266T>A (p.Val1089Glu)
n.2839T>A
c.8288T>A (p.Val2763Glu)
c.8279T>A (p.Val2760Glu)
c.8270T>A (p.Val2757Glu)
c.8156T>A (p.Val2719Glu)
c.7991T>A (p.Val2664Glu)
c.6140T>A (p.Val2047Glu)
c.3830T>A (p.Val1277Glu)
n.8529T>A
18g.23928206T>CCA402063271LAMA3c.3434T>C (p.Val1145Ala)
c.8261T>C (p.Val2754Ala)
c.4856T>C (p.Val1619Ala)
c.8093T>C (p.Val2698Ala)
c.3039T>C
c.3266T>C (p.Val1089Ala)
n.2839T>C
c.8288T>C (p.Val2763Ala)
c.8279T>C (p.Val2760Ala)
c.8270T>C (p.Val2757Ala)
c.8156T>C (p.Val2719Ala)
c.7991T>C (p.Val2664Ala)
c.6140T>C (p.Val2047Ala)
c.3830T>C (p.Val1277Ala)
n.8529T>C
18g.23928206T>GCA402063272LAMA3c.3434T>G (p.Val1145Gly)
c.8261T>G (p.Val2754Gly)
c.4856T>G (p.Val1619Gly)
c.8093T>G (p.Val2698Gly)
c.3039T>G
c.3266T>G (p.Val1089Gly)
n.2839T>G
c.8288T>G (p.Val2763Gly)
c.8279T>G (p.Val2760Gly)
c.8270T>G (p.Val2757Gly)
c.8156T>G (p.Val2719Gly)
c.7991T>G (p.Val2664Gly)
c.6140T>G (p.Val2047Gly)
c.3830T>G (p.Val1277Gly)
n.8529T>G
18g.23928207G>ACA503340652LAMA3c.3435G>A (p.Val1145=)
c.8262G>A (p.Val2754=)
c.4857G>A (p.Val1619=)
c.8094G>A (p.Val2698=)
c.3040G>A
c.3267G>A (p.Val1089=)
n.2840G>A
c.8289G>A (p.Val2763=)
c.8280G>A (p.Val2760=)
c.8271G>A (p.Val2757=)
c.8157G>A (p.Val2719=)
c.7992G>A (p.Val2664=)
c.6141G>A (p.Val2047=)
c.3831G>A (p.Val1277=)
n.8530G>A
 gnomAD v4
18g.23928207G>CCA503340653LAMA3c.3435G>C (p.Val1145=)
c.8262G>C (p.Val2754=)
c.4857G>C (p.Val1619=)
c.8094G>C (p.Val2698=)
c.3040G>C
c.3267G>C (p.Val1089=)
n.2840G>C
c.8289G>C (p.Val2763=)
c.8280G>C (p.Val2760=)
c.8271G>C (p.Val2757=)
c.8157G>C (p.Val2719=)
c.7992G>C (p.Val2664=)
c.6141G>C (p.Val2047=)
c.3831G>C (p.Val1277=)
n.8530G>C
 ClinVar
18g.23928207G>TCA503340654LAMA3c.3435G>T (p.Val1145=)
c.8262G>T (p.Val2754=)
c.4857G>T (p.Val1619=)
c.8094G>T (p.Val2698=)
c.3040G>T
c.3267G>T (p.Val1089=)
n.2840G>T
c.8289G>T (p.Val2763=)
c.8280G>T (p.Val2760=)
c.8271G>T (p.Val2757=)
c.8157G>T (p.Val2719=)
c.7992G>T (p.Val2664=)
c.6141G>T (p.Val2047=)
c.3831G>T (p.Val1277=)
n.8530G>T
 ClinVar
18g.23928208G>ACA402063275LAMA3c.3436G>A (p.Gly1146Arg)
c.8263G>A (p.Gly2755Arg)
c.4858G>A (p.Gly1620Arg)
c.8095G>A (p.Gly2699Arg)
c.3041G>A
c.3268G>A (p.Gly1090Arg)
n.2841G>A
c.8290G>A (p.Gly2764Arg)
c.8281G>A (p.Gly2761Arg)
c.8272G>A (p.Gly2758Arg)
c.8158G>A (p.Gly2720Arg)
c.7993G>A (p.Gly2665Arg)
c.6142G>A (p.Gly2048Arg)
c.3832G>A (p.Gly1278Arg)
n.8531G>A
 dbSNP gnomAD v4
18g.23928208G>CCA402063277LAMA3c.3436G>C (p.Gly1146Arg)
c.8263G>C (p.Gly2755Arg)
c.4858G>C (p.Gly1620Arg)
c.8095G>C (p.Gly2699Arg)
c.3041G>C
c.3268G>C (p.Gly1090Arg)
n.2841G>C
c.8290G>C (p.Gly2764Arg)
c.8281G>C (p.Gly2761Arg)
c.8272G>C (p.Gly2758Arg)
c.8158G>C (p.Gly2720Arg)
c.7993G>C (p.Gly2665Arg)
c.6142G>C (p.Gly2048Arg)
c.3832G>C (p.Gly1278Arg)
n.8531G>C
18g.23928208G=CA2290334626LAMA3c.3436G= (p.Gly1146=)
c.8263G= (p.Gly2755=)
c.4858G= (p.Gly1620=)
c.8095G= (p.Gly2699=)
c.3041G=
c.3268G= (p.Gly1090=)
n.2841G=
c.8290G= (p.Gly2764=)
c.8281G= (p.Gly2761=)
c.8272G= (p.Gly2758=)
c.8158G= (p.Gly2720=)
c.7993G= (p.Gly2665=)
c.6142G= (p.Gly2048=)
c.3832G= (p.Gly1278=)
n.8531G=
18g.23928208G>TCA402063282LAMA3c.3436G>T (p.Gly1146Ter)
c.8263G>T (p.Gly2755Ter)
c.4858G>T (p.Gly1620Ter)
c.8095G>T (p.Gly2699Ter)
c.3041G>T
c.3268G>T (p.Gly1090Ter)
n.2841G>T
c.8290G>T (p.Gly2764Ter)
c.8281G>T (p.Gly2761Ter)
c.8272G>T (p.Gly2758Ter)
c.8158G>T (p.Gly2720Ter)
c.7993G>T (p.Gly2665Ter)
c.6142G>T (p.Gly2048Ter)
c.3832G>T (p.Gly1278Ter)
n.8531G>T
 ClinVar
18g.23928209G>ACA402063284LAMA3c.3437G>A (p.Gly1146Glu)
c.8264G>A (p.Gly2755Glu)
c.4859G>A (p.Gly1620Glu)
c.8096G>A (p.Gly2699Glu)
c.3042G>A
c.3269G>A (p.Gly1090Glu)
n.2842G>A
c.8291G>A (p.Gly2764Glu)
c.8282G>A (p.Gly2761Glu)
c.8273G>A (p.Gly2758Glu)
c.8159G>A (p.Gly2720Glu)
c.7994G>A (p.Gly2665Glu)
c.6143G>A (p.Gly2048Glu)
c.3833G>A (p.Gly1278Glu)
n.8532G>A
 dbSNP gnomAD v2 gnomAD v4
18g.23928209G>CCA402063288LAMA3c.3437G>C (p.Gly1146Ala)
c.8264G>C (p.Gly2755Ala)
c.4859G>C (p.Gly1620Ala)
c.8096G>C (p.Gly2699Ala)
c.3042G>C
c.3269G>C (p.Gly1090Ala)
n.2842G>C
c.8291G>C (p.Gly2764Ala)
c.8282G>C (p.Gly2761Ala)
c.8273G>C (p.Gly2758Ala)
c.8159G>C (p.Gly2720Ala)
c.7994G>C (p.Gly2665Ala)
c.6143G>C (p.Gly2048Ala)
c.3833G>C (p.Gly1278Ala)
n.8532G>C
18g.23928209G=CA2290334627LAMA3c.3437G= (p.Gly1146=)
c.8264G= (p.Gly2755=)
c.4859G= (p.Gly1620=)
c.8096G= (p.Gly2699=)
c.3042G=
c.3269G= (p.Gly1090=)
n.2842G=
c.8291G= (p.Gly2764=)
c.8282G= (p.Gly2761=)
c.8273G= (p.Gly2758=)
c.8159G= (p.Gly2720=)
c.7994G= (p.Gly2665=)
c.6143G= (p.Gly2048=)
c.3833G= (p.Gly1278=)
n.8532G=
18g.23928209G>TCA402063285LAMA3c.3437G>T (p.Gly1146Val)
c.8264G>T (p.Gly2755Val)
c.4859G>T (p.Gly1620Val)
c.8096G>T (p.Gly2699Val)
c.3042G>T
c.3269G>T (p.Gly1090Val)
n.2842G>T
c.8291G>T (p.Gly2764Val)
c.8282G>T (p.Gly2761Val)
c.8273G>T (p.Gly2758Val)
c.8159G>T (p.Gly2720Val)
c.7994G>T (p.Gly2665Val)
c.6143G>T (p.Gly2048Val)
c.3833G>T (p.Gly1278Val)
n.8532G>T
18g.23928210A>CCA503340656LAMA3c.3438A>C (p.Gly1146=)
c.8265A>C (p.Gly2755=)
c.4860A>C (p.Gly1620=)
c.8097A>C (p.Gly2699=)
c.3043A>C
c.3270A>C (p.Gly1090=)
n.2843A>C
c.8292A>C (p.Gly2764=)
c.8283A>C (p.Gly2761=)
c.8274A>C (p.Gly2758=)
c.8160A>C (p.Gly2720=)
c.7995A>C (p.Gly2665=)
c.6144A>C (p.Gly2048=)
c.3834A>C (p.Gly1278=)
n.8533A>C
18g.23928210A>GCA503340657LAMA3c.3438A>G (p.Gly1146=)
c.8265A>G (p.Gly2755=)
c.4860A>G (p.Gly1620=)
c.8097A>G (p.Gly2699=)
c.3043A>G
c.3270A>G (p.Gly1090=)
n.2843A>G
c.8292A>G (p.Gly2764=)
c.8283A>G (p.Gly2761=)
c.8274A>G (p.Gly2758=)
c.8160A>G (p.Gly2720=)
c.7995A>G (p.Gly2665=)
c.6144A>G (p.Gly2048=)
c.3834A>G (p.Gly1278=)
n.8533A>G
18g.23928210A>TCA503340658LAMA3c.3438A>T (p.Gly1146=)
c.8265A>T (p.Gly2755=)
c.4860A>T (p.Gly1620=)
c.8097A>T (p.Gly2699=)
c.3043A>T
c.3270A>T (p.Gly1090=)
n.2843A>T
c.8292A>T (p.Gly2764=)
c.8283A>T (p.Gly2761=)
c.8274A>T (p.Gly2758=)
c.8160A>T (p.Gly2720=)
c.7995A>T (p.Gly2665=)
c.6144A>T (p.Gly2048=)
c.3834A>T (p.Gly1278=)
n.8533A>T
18g.23928211G>ACA402063290LAMA3c.3439G>A (p.Val1147Ile)
c.8266G>A (p.Val2756Ile)
c.4861G>A (p.Val1621Ile)
c.8098G>A (p.Val2700Ile)
c.3044G>A
c.3271G>A (p.Val1091Ile)
n.2844G>A
c.8293G>A (p.Val2765Ile)
c.8284G>A (p.Val2762Ile)
c.8275G>A (p.Val2759Ile)
c.8161G>A (p.Val2721Ile)
c.7996G>A (p.Val2666Ile)
c.6145G>A (p.Val2049Ile)
c.3835G>A (p.Val1279Ile)
n.8534G>A
18g.23928211G>CCA402063292LAMA3c.3439G>C (p.Val1147Leu)
c.8266G>C (p.Val2756Leu)
c.4861G>C (p.Val1621Leu)
c.8098G>C (p.Val2700Leu)
c.3044G>C
c.3271G>C (p.Val1091Leu)
n.2844G>C
c.8293G>C (p.Val2765Leu)
c.8284G>C (p.Val2762Leu)
c.8275G>C (p.Val2759Leu)
c.8161G>C (p.Val2721Leu)
c.7996G>C (p.Val2666Leu)
c.6145G>C (p.Val2049Leu)
c.3835G>C (p.Val1279Leu)
n.8534G>C
18g.23928211G>TCA402063295LAMA3c.3439G>T (p.Val1147Leu)
c.8266G>T (p.Val2756Leu)
c.4861G>T (p.Val1621Leu)
c.8098G>T (p.Val2700Leu)
c.3044G>T
c.3271G>T (p.Val1091Leu)
n.2844G>T
c.8293G>T (p.Val2765Leu)
c.8284G>T (p.Val2762Leu)
c.8275G>T (p.Val2759Leu)
c.8161G>T (p.Val2721Leu)
c.7996G>T (p.Val2666Leu)
c.6145G>T (p.Val2049Leu)
c.3835G>T (p.Val1279Leu)
n.8534G>T
18g.23928212T>ACA402063296LAMA3c.3440T>A (p.Val1147Glu)
c.8267T>A (p.Val2756Glu)
c.4862T>A (p.Val1621Glu)
c.8099T>A (p.Val2700Glu)
c.3045T>A
c.3272T>A (p.Val1091Glu)
n.2845T>A
c.8294T>A (p.Val2765Glu)
c.8285T>A (p.Val2762Glu)
c.8276T>A (p.Val2759Glu)
c.8162T>A (p.Val2721Glu)
c.7997T>A (p.Val2666Glu)
c.6146T>A (p.Val2049Glu)
c.3836T>A (p.Val1279Glu)
n.8535T>A
18g.23928212T>CCA402063297LAMA3c.3440T>C (p.Val1147Ala)
c.8267T>C (p.Val2756Ala)
c.4862T>C (p.Val1621Ala)
c.8099T>C (p.Val2700Ala)
c.3045T>C
c.3272T>C (p.Val1091Ala)
n.2845T>C
c.8294T>C (p.Val2765Ala)
c.8285T>C (p.Val2762Ala)
c.8276T>C (p.Val2759Ala)
c.8162T>C (p.Val2721Ala)
c.7997T>C (p.Val2666Ala)
c.6146T>C (p.Val2049Ala)
c.3836T>C (p.Val1279Ala)
n.8535T>C
18g.23928212T>GCA402063298LAMA3c.3440T>G (p.Val1147Gly)
c.8267T>G (p.Val2756Gly)
c.4862T>G (p.Val1621Gly)
c.8099T>G (p.Val2700Gly)
c.3045T>G
c.3272T>G (p.Val1091Gly)
n.2845T>G
c.8294T>G (p.Val2765Gly)
c.8285T>G (p.Val2762Gly)
c.8276T>G (p.Val2759Gly)
c.8162T>G (p.Val2721Gly)
c.7997T>G (p.Val2666Gly)
c.6146T>G (p.Val2049Gly)
c.3836T>G (p.Val1279Gly)
n.8535T>G
 COSMIC COSMIC
18g.23928213A>CCA503340659LAMA3c.3441A>C (p.Val1147=)
c.8268A>C (p.Val2756=)
c.4863A>C (p.Val1621=)
c.8100A>C (p.Val2700=)
c.3046A>C
c.3273A>C (p.Val1091=)
n.2846A>C
c.8295A>C (p.Val2765=)
c.8286A>C (p.Val2762=)
c.8277A>C (p.Val2759=)
c.8163A>C (p.Val2721=)
c.7998A>C (p.Val2666=)
c.6147A>C (p.Val2049=)
c.3837A>C (p.Val1279=)
n.8536A>C
18g.23928213A>GCA503340660LAMA3c.3441A>G (p.Val1147=)
c.8268A>G (p.Val2756=)
c.4863A>G (p.Val1621=)
c.8100A>G (p.Val2700=)
c.3046A>G
c.3273A>G (p.Val1091=)
n.2846A>G
c.8295A>G (p.Val2765=)
c.8286A>G (p.Val2762=)
c.8277A>G (p.Val2759=)
c.8163A>G (p.Val2721=)
c.7998A>G (p.Val2666=)
c.6147A>G (p.Val2049=)
c.3837A>G (p.Val1279=)
n.8536A>G
18g.23928213A>TCA503340661LAMA3c.3441A>T (p.Val1147=)
c.8268A>T (p.Val2756=)
c.4863A>T (p.Val1621=)
c.8100A>T (p.Val2700=)
c.3046A>T
c.3273A>T (p.Val1091=)
n.2846A>T
c.8295A>T (p.Val2765=)
c.8286A>T (p.Val2762=)
c.8277A>T (p.Val2759=)
c.8163A>T (p.Val2721=)
c.7998A>T (p.Val2666=)
c.6147A>T (p.Val2049=)
c.3837A>T (p.Val1279=)
n.8536A>T
18g.23928214A>CCA402063303LAMA3c.3442A>C (p.Thr1148Pro)
c.8269A>C (p.Thr2757Pro)
c.4864A>C (p.Thr1622Pro)
c.8101A>C (p.Thr2701Pro)
c.3047A>C
c.3274A>C (p.Thr1092Pro)
n.2847A>C
c.8296A>C (p.Thr2766Pro)
c.8287A>C (p.Thr2763Pro)
c.8278A>C (p.Thr2760Pro)
c.8164A>C (p.Thr2722Pro)
c.7999A>C (p.Thr2667Pro)
c.6148A>C (p.Thr2050Pro)
c.3838A>C (p.Thr1280Pro)
n.8537A>C
18g.23928214A>GCA402063306LAMA3c.3442A>G (p.Thr1148Ala)
c.8269A>G (p.Thr2757Ala)
c.4864A>G (p.Thr1622Ala)
c.8101A>G (p.Thr2701Ala)
c.3047A>G
c.3274A>G (p.Thr1092Ala)
n.2847A>G
c.8296A>G (p.Thr2766Ala)
c.8287A>G (p.Thr2763Ala)
c.8278A>G (p.Thr2760Ala)
c.8164A>G (p.Thr2722Ala)
c.7999A>G (p.Thr2667Ala)
c.6148A>G (p.Thr2050Ala)
c.3838A>G (p.Thr1280Ala)
n.8537A>G
18g.23928214A>TCA402063307LAMA3c.3442A>T (p.Thr1148Ser)
c.8269A>T (p.Thr2757Ser)
c.4864A>T (p.Thr1622Ser)
c.8101A>T (p.Thr2701Ser)
c.3047A>T
c.3274A>T (p.Thr1092Ser)
n.2847A>T
c.8296A>T (p.Thr2766Ser)
c.8287A>T (p.Thr2763Ser)
c.8278A>T (p.Thr2760Ser)
c.8164A>T (p.Thr2722Ser)
c.7999A>T (p.Thr2667Ser)
c.6148A>T (p.Thr2050Ser)
c.3838A>T (p.Thr1280Ser)
n.8537A>T
18g.23928215C>ACA402063310LAMA3c.3443C>A (p.Thr1148Asn)
c.8270C>A (p.Thr2757Asn)
c.4865C>A (p.Thr1622Asn)
c.8102C>A (p.Thr2701Asn)
c.3048C>A
c.3275C>A (p.Thr1092Asn)
n.2848C>A
c.8297C>A (p.Thr2766Asn)
c.8288C>A (p.Thr2763Asn)
c.8279C>A (p.Thr2760Asn)
c.8165C>A (p.Thr2722Asn)
c.8000C>A (p.Thr2667Asn)
c.6149C>A (p.Thr2050Asn)
c.3839C>A (p.Thr1280Asn)
n.8538C>A
18g.23928215C=CA2290334628LAMA3c.3443C= (p.Thr1148=)
c.8270C= (p.Thr2757=)
c.4865C= (p.Thr1622=)
c.8102C= (p.Thr2701=)
c.3048C=
c.3275C= (p.Thr1092=)
n.2848C=
c.8297C= (p.Thr2766=)
c.8288C= (p.Thr2763=)
c.8279C= (p.Thr2760=)
c.8165C= (p.Thr2722=)
c.8000C= (p.Thr2667=)
c.6149C= (p.Thr2050=)
c.3839C= (p.Thr1280=)
n.8538C=
18g.23928215C>GCA402063311LAMA3c.3443C>G (p.Thr1148Ser)
c.8270C>G (p.Thr2757Ser)
c.4865C>G (p.Thr1622Ser)
c.8102C>G (p.Thr2701Ser)
c.3048C>G
c.3275C>G (p.Thr1092Ser)
n.2848C>G
c.8297C>G (p.Thr2766Ser)
c.8288C>G (p.Thr2763Ser)
c.8279C>G (p.Thr2760Ser)
c.8165C>G (p.Thr2722Ser)
c.8000C>G (p.Thr2667Ser)
c.6149C>G (p.Thr2050Ser)
c.3839C>G (p.Thr1280Ser)
n.8538C>G
18g.23928215C>TCA402063312LAMA3c.3443C>T (p.Thr1148Ile)
c.8270C>T (p.Thr2757Ile)
c.4865C>T (p.Thr1622Ile)
c.8102C>T (p.Thr2701Ile)
c.3048C>T
c.3275C>T (p.Thr1092Ile)
n.2848C>T
c.8297C>T (p.Thr2766Ile)
c.8288C>T (p.Thr2763Ile)
c.8279C>T (p.Thr2760Ile)
c.8165C>T (p.Thr2722Ile)
c.8000C>T (p.Thr2667Ile)
c.6149C>T (p.Thr2050Ile)
c.3839C>T (p.Thr1280Ile)
n.8538C>T
 dbSNP gnomAD v3 gnomAD v4
18g.23928216C>ACA503340662LAMA3c.3444C>A (p.Thr1148=)
c.8271C>A (p.Thr2757=)
c.4866C>A (p.Thr1622=)
c.8103C>A (p.Thr2701=)
c.3049C>A
c.3276C>A (p.Thr1092=)
n.2849C>A
c.8298C>A (p.Thr2766=)
c.8289C>A (p.Thr2763=)
c.8280C>A (p.Thr2760=)
c.8166C>A (p.Thr2722=)
c.8001C>A (p.Thr2667=)
c.6150C>A (p.Thr2050=)
c.3840C>A (p.Thr1280=)
n.8539C>A
18g.23928216C>GCA503340663LAMA3c.3444C>G (p.Thr1148=)
c.8271C>G (p.Thr2757=)
c.4866C>G (p.Thr1622=)
c.8103C>G (p.Thr2701=)
c.3049C>G
c.3276C>G (p.Thr1092=)
n.2849C>G
c.8298C>G (p.Thr2766=)
c.8289C>G (p.Thr2763=)
c.8280C>G (p.Thr2760=)
c.8166C>G (p.Thr2722=)
c.8001C>G (p.Thr2667=)
c.6150C>G (p.Thr2050=)
c.3840C>G (p.Thr1280=)
n.8539C>G
18g.23928216C>TCA503340664LAMA3c.3444C>T (p.Thr1148=)
c.8271C>T (p.Thr2757=)
c.4866C>T (p.Thr1622=)
c.8103C>T (p.Thr2701=)
c.3049C>T
c.3276C>T (p.Thr1092=)
n.2849C>T
c.8298C>T (p.Thr2766=)
c.8289C>T (p.Thr2763=)
c.8280C>T (p.Thr2760=)
c.8166C>T (p.Thr2722=)
c.8001C>T (p.Thr2667=)
c.6150C>T (p.Thr2050=)
c.3840C>T (p.Thr1280=)
n.8539C>T
18g.23928217A=CA2290334629LAMA3c.3445A= (p.Lys1149=)
c.8272A= (p.Lys2758=)
c.4867A= (p.Lys1623=)
c.8104A= (p.Lys2702=)
c.3050A=
c.3277A= (p.Lys1093=)
n.2850A=
c.8299A= (p.Lys2767=)
c.8290A= (p.Lys2764=)
c.8281A= (p.Lys2761=)
c.8167A= (p.Lys2723=)
c.8002A= (p.Lys2668=)
c.6151A= (p.Lys2051=)
c.3841A= (p.Lys1281=)
n.8540A=
18g.23928217A>CCA402063318LAMA3c.3445A>C (p.Lys1149Gln)
c.8272A>C (p.Lys2758Gln)
c.4867A>C (p.Lys1623Gln)
c.8104A>C (p.Lys2702Gln)
c.3050A>C
c.3277A>C (p.Lys1093Gln)
n.2850A>C
c.8299A>C (p.Lys2767Gln)
c.8290A>C (p.Lys2764Gln)
c.8281A>C (p.Lys2761Gln)
c.8167A>C (p.Lys2723Gln)
c.8002A>C (p.Lys2668Gln)
c.6151A>C (p.Lys2051Gln)
c.3841A>C (p.Lys1281Gln)
n.8540A>C
18g.23928217A>GCA402063317LAMA3c.3445A>G (p.Lys1149Glu)
c.8272A>G (p.Lys2758Glu)
c.4867A>G (p.Lys1623Glu)
c.8104A>G (p.Lys2702Glu)
c.3050A>G
c.3277A>G (p.Lys1093Glu)
n.2850A>G
c.8299A>G (p.Lys2767Glu)
c.8290A>G (p.Lys2764Glu)
c.8281A>G (p.Lys2761Glu)
c.8167A>G (p.Lys2723Glu)
c.8002A>G (p.Lys2668Glu)
c.6151A>G (p.Lys2051Glu)
c.3841A>G (p.Lys1281Glu)
n.8540A>G
 dbSNP gnomAD v3 gnomAD v4
18g.23928217A>TCA402063314LAMA3c.3445A>T (p.Lys1149Ter)
c.8272A>T (p.Lys2758Ter)
c.4867A>T (p.Lys1623Ter)
c.8104A>T (p.Lys2702Ter)
c.3050A>T
c.3277A>T (p.Lys1093Ter)
n.2850A>T
c.8299A>T (p.Lys2767Ter)
c.8290A>T (p.Lys2764Ter)
c.8281A>T (p.Lys2761Ter)
c.8167A>T (p.Lys2723Ter)
c.8002A>T (p.Lys2668Ter)
c.6151A>T (p.Lys2051Ter)
c.3841A>T (p.Lys1281Ter)
n.8540A>T
18g.23928221delCA2641297342LAMA3c.3449del (p.Lys1150SerfsTer20)
c.8276del (p.Lys2759SerfsTer20)
c.4871del (p.Lys1624SerfsTer20)
c.8108del (p.Lys2703SerfsTer20)
c.3054del
c.3281del (p.Lys1094SerfsTer20)
n.2854del
c.8303del (p.Lys2768SerfsTer20)
c.8294del (p.Lys2765SerfsTer20)
c.8285del (p.Lys2762SerfsTer20)
c.8171del (p.Lys2724SerfsTer20)
c.8006del (p.Lys2669SerfsTer20)
c.6155del (p.Lys2052SerfsTer20)
c.3845del (p.Lys1282SerfsTer20)
n.8544del
 gnomAD v4
18g.23928218A>CCA402063322LAMA3c.3446A>C (p.Lys1149Thr)
c.8273A>C (p.Lys2758Thr)
c.4868A>C (p.Lys1623Thr)
c.8105A>C (p.Lys2702Thr)
c.3051A>C
c.3278A>C (p.Lys1093Thr)
n.2851A>C
c.8300A>C (p.Lys2767Thr)
c.8291A>C (p.Lys2764Thr)
c.8282A>C (p.Lys2761Thr)
c.8168A>C (p.Lys2723Thr)
c.8003A>C (p.Lys2668Thr)
c.6152A>C (p.Lys2051Thr)
c.3842A>C (p.Lys1281Thr)
n.8541A>C
18g.23928218A>GCA402063324LAMA3c.3446A>G (p.Lys1149Arg)
c.8273A>G (p.Lys2758Arg)
c.4868A>G (p.Lys1623Arg)
c.8105A>G (p.Lys2702Arg)
c.3051A>G
c.3278A>G (p.Lys1093Arg)
n.2851A>G
c.8300A>G (p.Lys2767Arg)
c.8291A>G (p.Lys2764Arg)
c.8282A>G (p.Lys2761Arg)
c.8168A>G (p.Lys2723Arg)
c.8003A>G (p.Lys2668Arg)
c.6152A>G (p.Lys2051Arg)
c.3842A>G (p.Lys1281Arg)
n.8541A>G
18g.23928218A>TCA402063326LAMA3c.3446A>T (p.Lys1149Ile)
c.8273A>T (p.Lys2758Ile)
c.4868A>T (p.Lys1623Ile)
c.8105A>T (p.Lys2702Ile)
c.3051A>T
c.3278A>T (p.Lys1093Ile)
n.2851A>T
c.8300A>T (p.Lys2767Ile)
c.8291A>T (p.Lys2764Ile)
c.8282A>T (p.Lys2761Ile)
c.8168A>T (p.Lys2723Ile)
c.8003A>T (p.Lys2668Ile)
c.6152A>T (p.Lys2051Ile)
c.3842A>T (p.Lys1281Ile)
n.8541A>T
18g.23928219A>CCA402063328LAMA3c.3447A>C (p.Lys1149Asn)
c.8274A>C (p.Lys2758Asn)
c.4869A>C (p.Lys1623Asn)
c.8106A>C (p.Lys2702Asn)
c.3052A>C
c.3279A>C (p.Lys1093Asn)
n.2852A>C
c.8301A>C (p.Lys2767Asn)
c.8292A>C (p.Lys2764Asn)
c.8283A>C (p.Lys2761Asn)
c.8169A>C (p.Lys2723Asn)
c.8004A>C (p.Lys2668Asn)
c.6153A>C (p.Lys2051Asn)
c.3843A>C (p.Lys1281Asn)
n.8542A>C
18g.23928219A>GCA503340665LAMA3c.3447A>G (p.Lys1149=)
c.8274A>G (p.Lys2758=)
c.4869A>G (p.Lys1623=)
c.8106A>G (p.Lys2702=)
c.3052A>G
c.3279A>G (p.Lys1093=)
n.2852A>G
c.8301A>G (p.Lys2767=)
c.8292A>G (p.Lys2764=)
c.8283A>G (p.Lys2761=)
c.8169A>G (p.Lys2723=)
c.8004A>G (p.Lys2668=)
c.6153A>G (p.Lys2051=)
c.3843A>G (p.Lys1281=)
n.8542A>G
18g.23928219A>TCA402063329LAMA3c.3447A>T (p.Lys1149Asn)
c.8274A>T (p.Lys2758Asn)
c.4869A>T (p.Lys1623Asn)
c.8106A>T (p.Lys2702Asn)
c.3052A>T
c.3279A>T (p.Lys1093Asn)
n.2852A>T
c.8301A>T (p.Lys2767Asn)
c.8292A>T (p.Lys2764Asn)
c.8283A>T (p.Lys2761Asn)
c.8169A>T (p.Lys2723Asn)
c.8004A>T (p.Lys2668Asn)
c.6153A>T (p.Lys2051Asn)
c.3843A>T (p.Lys1281Asn)
n.8542A>T
18g.23928219_23928220insCACACCCAACACCA2811823253LAMA3c.3447_3448insCACACCCAACAC (p.Lys1149_Lys1150insHisThrGlnHis)
c.8274_8275insCACACCCAACAC (p.Lys2758_Lys2759insHisThrGlnHis)
c.4869_4870insCACACCCAACAC (p.Lys1623_Lys1624insHisThrGlnHis)
c.8106_8107insCACACCCAACAC (p.Lys2702_Lys2703insHisThrGlnHis)
c.3052_3053insCACACCCAACAC
c.3279_3280insCACACCCAACAC (p.Lys1093_Lys1094insHisThrGlnHis)
n.2852_2853insCACACCCAACAC
c.8301_8302insCACACCCAACAC (p.Lys2767_Lys2768insHisThrGlnHis)
c.8292_8293insCACACCCAACAC (p.Lys2764_Lys2765insHisThrGlnHis)
c.8283_8284insCACACCCAACAC (p.Lys2761_Lys2762insHisThrGlnHis)
c.8169_8170insCACACCCAACAC (p.Lys2723_Lys2724insHisThrGlnHis)
c.8004_8005insCACACCCAACAC (p.Lys2668_Lys2669insHisThrGlnHis)
c.6153_6154insCACACCCAACAC (p.Lys2051_Lys2052insHisThrGlnHis)
c.3843_3844insCACACCCAACAC (p.Lys1281_Lys1282insHisThrGlnHis)
n.8542_8543insCACACCCAACAC
18g.23928220A>CCA402063332LAMA3c.3448A>C (p.Lys1150Gln)
c.8275A>C (p.Lys2759Gln)
c.4870A>C (p.Lys1624Gln)
c.8107A>C (p.Lys2703Gln)
c.3053A>C
c.3280A>C (p.Lys1094Gln)
n.2853A>C
c.8302A>C (p.Lys2768Gln)
c.8293A>C (p.Lys2765Gln)
c.8284A>C (p.Lys2762Gln)
c.8170A>C (p.Lys2724Gln)
c.8005A>C (p.Lys2669Gln)
c.6154A>C (p.Lys2052Gln)
c.3844A>C (p.Lys1282Gln)
n.8543A>C
18g.23928220A>GCA402063333LAMA3c.3448A>G (p.Lys1150Glu)
c.8275A>G (p.Lys2759Glu)
c.4870A>G (p.Lys1624Glu)
c.8107A>G (p.Lys2703Glu)
c.3053A>G
c.3280A>G (p.Lys1094Glu)
n.2853A>G
c.8302A>G (p.Lys2768Glu)
c.8293A>G (p.Lys2765Glu)
c.8284A>G (p.Lys2762Glu)
c.8170A>G (p.Lys2724Glu)
c.8005A>G (p.Lys2669Glu)
c.6154A>G (p.Lys2052Glu)
c.3844A>G (p.Lys1282Glu)
n.8543A>G
18g.23928220A>TCA402063336LAMA3c.3448A>T (p.Lys1150Ter)
c.8275A>T (p.Lys2759Ter)
c.4870A>T (p.Lys1624Ter)
c.8107A>T (p.Lys2703Ter)
c.3053A>T
c.3280A>T (p.Lys1094Ter)
n.2853A>T
c.8302A>T (p.Lys2768Ter)
c.8293A>T (p.Lys2765Ter)
c.8284A>T (p.Lys2762Ter)
c.8170A>T (p.Lys2724Ter)
c.8005A>T (p.Lys2669Ter)
c.6154A>T (p.Lys2052Ter)
c.3844A>T (p.Lys1282Ter)
n.8543A>T
18g.23928221A>CCA402063339LAMA3c.3449A>C (p.Lys1150Thr)
c.8276A>C (p.Lys2759Thr)
c.4871A>C (p.Lys1624Thr)
c.8108A>C (p.Lys2703Thr)
c.3054A>C
c.3281A>C (p.Lys1094Thr)
n.2854A>C
c.8303A>C (p.Lys2768Thr)
c.8294A>C (p.Lys2765Thr)
c.8285A>C (p.Lys2762Thr)
c.8171A>C (p.Lys2724Thr)
c.8006A>C (p.Lys2669Thr)
c.6155A>C (p.Lys2052Thr)
c.3845A>C (p.Lys1282Thr)
n.8544A>C
18g.23928221A>GCA402063342LAMA3c.3449A>G (p.Lys1150Arg)
c.8276A>G (p.Lys2759Arg)
c.4871A>G (p.Lys1624Arg)
c.8108A>G (p.Lys2703Arg)
c.3054A>G
c.3281A>G (p.Lys1094Arg)
n.2854A>G
c.8303A>G (p.Lys2768Arg)
c.8294A>G (p.Lys2765Arg)
c.8285A>G (p.Lys2762Arg)
c.8171A>G (p.Lys2724Arg)
c.8006A>G (p.Lys2669Arg)
c.6155A>G (p.Lys2052Arg)
c.3845A>G (p.Lys1282Arg)
n.8544A>G
18g.23928221A>TCA402063345LAMA3c.3449A>T (p.Lys1150Met)
c.8276A>T (p.Lys2759Met)
c.4871A>T (p.Lys1624Met)
c.8108A>T (p.Lys2703Met)
c.3054A>T
c.3281A>T (p.Lys1094Met)
n.2854A>T
c.8303A>T (p.Lys2768Met)
c.8294A>T (p.Lys2765Met)
c.8285A>T (p.Lys2762Met)
c.8171A>T (p.Lys2724Met)
c.8006A>T (p.Lys2669Met)
c.6155A>T (p.Lys2052Met)
c.3845A>T (p.Lys1282Met)
n.8544A>T
18g.23928222G>ACA503340666LAMA3c.3450G>A (p.Lys1150=)
c.8277G>A (p.Lys2759=)
c.4872G>A (p.Lys1624=)
c.8109G>A (p.Lys2703=)
c.3055G>A
c.3282G>A (p.Lys1094=)
n.2855G>A
c.8304G>A (p.Lys2768=)
c.8295G>A (p.Lys2765=)
c.8286G>A (p.Lys2762=)
c.8172G>A (p.Lys2724=)
c.8007G>A (p.Lys2669=)
c.6156G>A (p.Lys2052=)
c.3846G>A (p.Lys1282=)
n.8545G>A
 ClinVar dbSNP gnomAD v2
18g.23928222G>CCA402063352LAMA3c.3450G>C (p.Lys1150Asn)
c.8277G>C (p.Lys2759Asn)
c.4872G>C (p.Lys1624Asn)
c.8109G>C (p.Lys2703Asn)
c.3055G>C
c.3282G>C (p.Lys1094Asn)
n.2855G>C
c.8304G>C (p.Lys2768Asn)
c.8295G>C (p.Lys2765Asn)
c.8286G>C (p.Lys2762Asn)
c.8172G>C (p.Lys2724Asn)
c.8007G>C (p.Lys2669Asn)
c.6156G>C (p.Lys2052Asn)
c.3846G>C (p.Lys1282Asn)
n.8545G>C
18g.23928222G=CA2290334630LAMA3c.3450G= (p.Lys1150=)
c.8277G= (p.Lys2759=)
c.4872G= (p.Lys1624=)
c.8109G= (p.Lys2703=)
c.3055G=
c.3282G= (p.Lys1094=)
n.2855G=
c.8304G= (p.Lys2768=)
c.8295G= (p.Lys2765=)
c.8286G= (p.Lys2762=)
c.8172G= (p.Lys2724=)
c.8007G= (p.Lys2669=)
c.6156G= (p.Lys2052=)
c.3846G= (p.Lys1282=)
n.8545G=
18g.23928222G>TCA402063356LAMA3c.3450G>T (p.Lys1150Asn)
c.8277G>T (p.Lys2759Asn)
c.4872G>T (p.Lys1624Asn)
c.8109G>T (p.Lys2703Asn)
c.3055G>T
c.3282G>T (p.Lys1094Asn)
n.2855G>T
c.8304G>T (p.Lys2768Asn)
c.8295G>T (p.Lys2765Asn)
c.8286G>T (p.Lys2762Asn)
c.8172G>T (p.Lys2724Asn)
c.8007G>T (p.Lys2669Asn)
c.6156G>T (p.Lys2052Asn)
c.3846G>T (p.Lys1282Asn)
n.8545G>T
18g.23928223T>ACA402063360LAMA3c.3451T>A (p.Cys1151Ser)
c.8278T>A (p.Cys2760Ser)
c.4873T>A (p.Cys1625Ser)
c.8110T>A (p.Cys2704Ser)
c.3056T>A
c.3283T>A (p.Cys1095Ser)
n.2856T>A
c.8305T>A (p.Cys2769Ser)
c.8296T>A (p.Cys2766Ser)
c.8287T>A (p.Cys2763Ser)
c.8173T>A (p.Cys2725Ser)
c.8008T>A (p.Cys2670Ser)
c.6157T>A (p.Cys2053Ser)
c.3847T>A (p.Cys1283Ser)
n.8546T>A
18g.23928223T>CCA402063363LAMA3c.3451T>C (p.Cys1151Arg)
c.8278T>C (p.Cys2760Arg)
c.4873T>C (p.Cys1625Arg)
c.8110T>C (p.Cys2704Arg)
c.3056T>C
c.3283T>C (p.Cys1095Arg)
n.2856T>C
c.8305T>C (p.Cys2769Arg)
c.8296T>C (p.Cys2766Arg)
c.8287T>C (p.Cys2763Arg)
c.8173T>C (p.Cys2725Arg)
c.8008T>C (p.Cys2670Arg)
c.6157T>C (p.Cys2053Arg)
c.3847T>C (p.Cys1283Arg)
n.8546T>C
18g.23928223T>GCA10641197LAMA3c.3451T>G (p.Cys1151Gly)
c.8278T>G (p.Cys2760Gly)
c.4873T>G (p.Cys1625Gly)
c.8110T>G (p.Cys2704Gly)
c.3056T>G
c.3283T>G (p.Cys1095Gly)
n.2856T>G
c.8305T>G (p.Cys2769Gly)
c.8296T>G (p.Cys2766Gly)
c.8287T>G (p.Cys2763Gly)
c.8173T>G (p.Cys2725Gly)
c.8008T>G (p.Cys2670Gly)
c.6157T>G (p.Cys2053Gly)
c.3847T>G (p.Cys1283Gly)
n.8546T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23928223T=CA2290334631LAMA3c.3451T= (p.Cys1151=)
c.8278T= (p.Cys2760=)
c.4873T= (p.Cys1625=)
c.8110T= (p.Cys2704=)
c.3056T=
c.3283T= (p.Cys1095=)
n.2856T=
c.8305T= (p.Cys2769=)
c.8296T= (p.Cys2766=)
c.8287T= (p.Cys2763=)
c.8173T= (p.Cys2725=)
c.8008T= (p.Cys2670=)
c.6157T= (p.Cys2053=)
c.3847T= (p.Cys1283=)
n.8546T=
18g.23928224G>ACA8916881LAMA3c.3452G>A (p.Cys1151Tyr)
c.8279G>A (p.Cys2760Tyr)
c.4874G>A (p.Cys1625Tyr)
c.8111G>A (p.Cys2704Tyr)
c.3057G>A
c.3284G>A (p.Cys1095Tyr)
n.2857G>A
c.8306G>A (p.Cys2769Tyr)
c.8297G>A (p.Cys2766Tyr)
c.8288G>A (p.Cys2763Tyr)
c.8174G>A (p.Cys2725Tyr)
c.8009G>A (p.Cys2670Tyr)
c.6158G>A (p.Cys2053Tyr)
c.3848G>A (p.Cys1283Tyr)
n.8547G>A
 dbSNP ExAC
18g.23928224G>CCA402063374LAMA3c.3452G>C (p.Cys1151Ser)
c.8279G>C (p.Cys2760Ser)
c.4874G>C (p.Cys1625Ser)
c.8111G>C (p.Cys2704Ser)
c.3057G>C
c.3284G>C (p.Cys1095Ser)
n.2857G>C
c.8306G>C (p.Cys2769Ser)
c.8297G>C (p.Cys2766Ser)
c.8288G>C (p.Cys2763Ser)
c.8174G>C (p.Cys2725Ser)
c.8009G>C (p.Cys2670Ser)
c.6158G>C (p.Cys2053Ser)
c.3848G>C (p.Cys1283Ser)
n.8547G>C
18g.23928224G=CA2290334632LAMA3c.3452G= (p.Cys1151=)
c.8279G= (p.Cys2760=)
c.4874G= (p.Cys1625=)
c.8111G= (p.Cys2704=)
c.3057G=
c.3284G= (p.Cys1095=)
n.2857G=
c.8306G= (p.Cys2769=)
c.8297G= (p.Cys2766=)
c.8288G= (p.Cys2763=)
c.8174G= (p.Cys2725=)
c.8009G= (p.Cys2670=)
c.6158G= (p.Cys2053=)
c.3848G= (p.Cys1283=)
n.8547G=
18g.23928224G>TCA402063369LAMA3c.3452G>T (p.Cys1151Phe)
c.8279G>T (p.Cys2760Phe)
c.4874G>T (p.Cys1625Phe)
c.8111G>T (p.Cys2704Phe)
c.3057G>T
c.3284G>T (p.Cys1095Phe)
n.2857G>T
c.8306G>T (p.Cys2769Phe)
c.8297G>T (p.Cys2766Phe)
c.8288G>T (p.Cys2763Phe)
c.8174G>T (p.Cys2725Phe)
c.8009G>T (p.Cys2670Phe)
c.6158G>T (p.Cys2053Phe)
c.3848G>T (p.Cys1283Phe)
n.8547G>T
 gnomAD v4
18g.23928225C>ACA402063381LAMA3c.3453C>A (p.Cys1151Ter)
c.8280C>A (p.Cys2760Ter)
c.4875C>A (p.Cys1625Ter)
c.8112C>A (p.Cys2704Ter)
c.3058C>A
c.3285C>A (p.Cys1095Ter)
n.2858C>A
c.8307C>A (p.Cys2769Ter)
c.8298C>A (p.Cys2766Ter)
c.8289C>A (p.Cys2763Ter)
c.8175C>A (p.Cys2725Ter)
c.8010C>A (p.Cys2670Ter)
c.6159C>A (p.Cys2053Ter)
c.3849C>A (p.Cys1283Ter)
n.8548C>A
18g.23928225C=CA2290334633LAMA3c.3453C= (p.Cys1151=)
c.8280C= (p.Cys2760=)
c.4875C= (p.Cys1625=)
c.8112C= (p.Cys2704=)
c.3058C=
c.3285C= (p.Cys1095=)
n.2858C=
c.8307C= (p.Cys2769=)
c.8298C= (p.Cys2766=)
c.8289C= (p.Cys2763=)
c.8175C= (p.Cys2725=)
c.8010C= (p.Cys2670=)
c.6159C= (p.Cys2053=)
c.3849C= (p.Cys1283=)
n.8548C=
18g.23928225C>GCA402063384LAMA3c.3453C>G (p.Cys1151Trp)
c.8280C>G (p.Cys2760Trp)
c.4875C>G (p.Cys1625Trp)
c.8112C>G (p.Cys2704Trp)
c.3058C>G
c.3285C>G (p.Cys1095Trp)
n.2858C>G
c.8307C>G (p.Cys2769Trp)
c.8298C>G (p.Cys2766Trp)
c.8289C>G (p.Cys2763Trp)
c.8175C>G (p.Cys2725Trp)
c.8010C>G (p.Cys2670Trp)
c.6159C>G (p.Cys2053Trp)
c.3849C>G (p.Cys1283Trp)
n.8548C>G
18g.23928225C>TCA503340670LAMA3c.3453C>T (p.Cys1151=)
c.8280C>T (p.Cys2760=)
c.4875C>T (p.Cys1625=)
c.8112C>T (p.Cys2704=)
c.3058C>T
c.3285C>T (p.Cys1095=)
n.2858C>T
c.8307C>T (p.Cys2769=)
c.8298C>T (p.Cys2766=)
c.8289C>T (p.Cys2763=)
c.8175C>T (p.Cys2725=)
c.8010C>T (p.Cys2670=)
c.6159C>T (p.Cys2053=)
c.3849C>T (p.Cys1283=)
n.8548C>T
 ClinVar dbSNP
18g.23928226T>ACA402063387LAMA3c.3454T>A (p.Ser1152Thr)
c.8281T>A (p.Ser2761Thr)
c.4876T>A (p.Ser1626Thr)
c.8113T>A (p.Ser2705Thr)
c.3059T>A
c.3286T>A (p.Ser1096Thr)
n.2859T>A
c.8308T>A (p.Ser2770Thr)
c.8299T>A (p.Ser2767Thr)
c.8290T>A (p.Ser2764Thr)
c.8176T>A (p.Ser2726Thr)
c.8011T>A (p.Ser2671Thr)
c.6160T>A (p.Ser2054Thr)
c.3850T>A (p.Ser1284Thr)
n.8549T>A
18g.23928226T>CCA402063391LAMA3c.3454T>C (p.Ser1152Pro)
c.8281T>C (p.Ser2761Pro)
c.4876T>C (p.Ser1626Pro)
c.8113T>C (p.Ser2705Pro)
c.3059T>C
c.3286T>C (p.Ser1096Pro)
n.2859T>C
c.8308T>C (p.Ser2770Pro)
c.8299T>C (p.Ser2767Pro)
c.8290T>C (p.Ser2764Pro)
c.8176T>C (p.Ser2726Pro)
c.8011T>C (p.Ser2671Pro)
c.6160T>C (p.Ser2054Pro)
c.3850T>C (p.Ser1284Pro)
n.8549T>C
18g.23928226T>GCA402063394LAMA3c.3454T>G (p.Ser1152Ala)
c.8281T>G (p.Ser2761Ala)
c.4876T>G (p.Ser1626Ala)
c.8113T>G (p.Ser2705Ala)
c.3059T>G
c.3286T>G (p.Ser1096Ala)
n.2859T>G
c.8308T>G (p.Ser2770Ala)
c.8299T>G (p.Ser2767Ala)
c.8290T>G (p.Ser2764Ala)
c.8176T>G (p.Ser2726Ala)
c.8011T>G (p.Ser2671Ala)
c.6160T>G (p.Ser2054Ala)
c.3850T>G (p.Ser1284Ala)
n.8549T>G
18g.23928227C>ACA402063397LAMA3c.3455C>A (p.Ser1152Ter)
c.8282C>A (p.Ser2761Ter)
c.4877C>A (p.Ser1626Ter)
c.8114C>A (p.Ser2705Ter)
c.3060C>A
c.3287C>A (p.Ser1096Ter)
n.2860C>A
c.8309C>A (p.Ser2770Ter)
c.8300C>A (p.Ser2767Ter)
c.8291C>A (p.Ser2764Ter)
c.8177C>A (p.Ser2726Ter)
c.8012C>A (p.Ser2671Ter)
c.6161C>A (p.Ser2054Ter)
c.3851C>A (p.Ser1284Ter)
n.8550C>A
 gnomAD v4
18g.23928227C=CA2290334634LAMA3c.3455C= (p.Ser1152=)
c.8282C= (p.Ser2761=)
c.4877C= (p.Ser1626=)
c.8114C= (p.Ser2705=)
c.3060C=
c.3287C= (p.Ser1096=)
n.2860C=
c.8309C= (p.Ser2770=)
c.8300C= (p.Ser2767=)
c.8291C= (p.Ser2764=)
c.8177C= (p.Ser2726=)
c.8012C= (p.Ser2671=)
c.6161C= (p.Ser2054=)
c.3851C= (p.Ser1284=)
n.8550C=
18g.23928227C>GCA402063405LAMA3c.3455C>G (p.Ser1152Trp)
c.8282C>G (p.Ser2761Trp)
c.4877C>G (p.Ser1626Trp)
c.8114C>G (p.Ser2705Trp)
c.3060C>G
c.3287C>G (p.Ser1096Trp)
n.2860C>G
c.8309C>G (p.Ser2770Trp)
c.8300C>G (p.Ser2767Trp)
c.8291C>G (p.Ser2764Trp)
c.8177C>G (p.Ser2726Trp)
c.8012C>G (p.Ser2671Trp)
c.6161C>G (p.Ser2054Trp)
c.3851C>G (p.Ser1284Trp)
n.8550C>G
18g.23928227C>TCA8916882LAMA3c.3455C>T (p.Ser1152Leu)
c.8282C>T (p.Ser2761Leu)
c.4877C>T (p.Ser1626Leu)
c.8114C>T (p.Ser2705Leu)
c.3060C>T
c.3287C>T (p.Ser1096Leu)
n.2860C>T
c.8309C>T (p.Ser2770Leu)
c.8300C>T (p.Ser2767Leu)
c.8291C>T (p.Ser2764Leu)
c.8177C>T (p.Ser2726Leu)
c.8012C>T (p.Ser2671Leu)
c.6161C>T (p.Ser2054Leu)
c.3851C>T (p.Ser1284Leu)
n.8550C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928228G>ACA8916883LAMA3c.3456G>A (p.Ser1152=)
c.8283G>A (p.Ser2761=)
c.4878G>A (p.Ser1626=)
c.8115G>A (p.Ser2705=)
c.3061G>A
c.3288G>A (p.Ser1096=)
n.2861G>A
c.8310G>A (p.Ser2770=)
c.8301G>A (p.Ser2767=)
c.8292G>A (p.Ser2764=)
c.8178G>A (p.Ser2726=)
c.8013G>A (p.Ser2671=)
c.6162G>A (p.Ser2054=)
c.3852G>A (p.Ser1284=)
n.8551G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928228G>CCA503340672LAMA3c.3456G>C (p.Ser1152=)
c.8283G>C (p.Ser2761=)
c.4878G>C (p.Ser1626=)
c.8115G>C (p.Ser2705=)
c.3061G>C
c.3288G>C (p.Ser1096=)
n.2861G>C
c.8310G>C (p.Ser2770=)
c.8301G>C (p.Ser2767=)
c.8292G>C (p.Ser2764=)
c.8178G>C (p.Ser2726=)
c.8013G>C (p.Ser2671=)
c.6162G>C (p.Ser2054=)
c.3852G>C (p.Ser1284=)
n.8551G>C
18g.23928228G=CA2290334635LAMA3c.3456G= (p.Ser1152=)
c.8283G= (p.Ser2761=)
c.4878G= (p.Ser1626=)
c.8115G= (p.Ser2705=)
c.3061G=
c.3288G= (p.Ser1096=)
n.2861G=
c.8310G= (p.Ser2770=)
c.8301G= (p.Ser2767=)
c.8292G= (p.Ser2764=)
c.8178G= (p.Ser2726=)
c.8013G= (p.Ser2671=)
c.6162G= (p.Ser2054=)
c.3852G= (p.Ser1284=)
n.8551G=
18g.23928228G>TCA503340671LAMA3c.3456G>T (p.Ser1152=)
c.8283G>T (p.Ser2761=)
c.4878G>T (p.Ser1626=)
c.8115G>T (p.Ser2705=)
c.3061G>T
c.3288G>T (p.Ser1096=)
n.2861G>T
c.8310G>T (p.Ser2770=)
c.8301G>T (p.Ser2767=)
c.8292G>T (p.Ser2764=)
c.8178G>T (p.Ser2726=)
c.8013G>T (p.Ser2671=)
c.6162G>T (p.Ser2054=)
c.3852G>T (p.Ser1284=)
n.8551G>T
18g.23928229delCA2573155147LAMA3c.3457del (p.Glu1153LysfsTer17)
c.8284del (p.Glu2762LysfsTer17)
c.4879del (p.Glu1627LysfsTer17)
c.8116del (p.Glu2706LysfsTer17)
c.3062del
c.3289del (p.Glu1097LysfsTer17)
n.2862del
c.8311del (p.Glu2771LysfsTer17)
c.8302del (p.Glu2768LysfsTer17)
c.8293del (p.Glu2765LysfsTer17)
c.8179del (p.Glu2727LysfsTer17)
c.8014del (p.Glu2672LysfsTer17)
c.6163del (p.Glu2055LysfsTer17)
c.3853del (p.Glu1285LysfsTer17)
n.8552del
 ClinVar dbSNP
18g.23928229G>ACA402063411LAMA3c.3457G>A (p.Glu1153Lys)
c.8284G>A (p.Glu2762Lys)
c.4879G>A (p.Glu1627Lys)
c.8116G>A (p.Glu2706Lys)
c.3062G>A
c.3289G>A (p.Glu1097Lys)
n.2862G>A
c.8311G>A (p.Glu2771Lys)
c.8302G>A (p.Glu2768Lys)
c.8293G>A (p.Glu2765Lys)
c.8179G>A (p.Glu2727Lys)
c.8014G>A (p.Glu2672Lys)
c.6163G>A (p.Glu2055Lys)
c.3853G>A (p.Glu1285Lys)
n.8552G>A
18g.23928229G>CCA402063413LAMA3c.3457G>C (p.Glu1153Gln)
c.8284G>C (p.Glu2762Gln)
c.4879G>C (p.Glu1627Gln)
c.8116G>C (p.Glu2706Gln)
c.3062G>C
c.3289G>C (p.Glu1097Gln)
n.2862G>C
c.8311G>C (p.Glu2771Gln)
c.8302G>C (p.Glu2768Gln)
c.8293G>C (p.Glu2765Gln)
c.8179G>C (p.Glu2727Gln)
c.8014G>C (p.Glu2672Gln)
c.6163G>C (p.Glu2055Gln)
c.3853G>C (p.Glu1285Gln)
n.8552G>C
18g.23928229G>TCA402063416LAMA3c.3457G>T (p.Glu1153Ter)
c.8284G>T (p.Glu2762Ter)
c.4879G>T (p.Glu1627Ter)
c.8116G>T (p.Glu2706Ter)
c.3062G>T
c.3289G>T (p.Glu1097Ter)
n.2862G>T
c.8311G>T (p.Glu2771Ter)
c.8302G>T (p.Glu2768Ter)
c.8293G>T (p.Glu2765Ter)
c.8179G>T (p.Glu2727Ter)
c.8014G>T (p.Glu2672Ter)
c.6163G>T (p.Glu2055Ter)
c.3853G>T (p.Glu1285Ter)
n.8552G>T
18g.23928230A>CCA402063419LAMA3c.3458A>C (p.Glu1153Ala)
c.8285A>C (p.Glu2762Ala)
c.4880A>C (p.Glu1627Ala)
c.8117A>C (p.Glu2706Ala)
c.3063A>C
c.3290A>C (p.Glu1097Ala)
n.2863A>C
c.8312A>C (p.Glu2771Ala)
c.8303A>C (p.Glu2768Ala)
c.8294A>C (p.Glu2765Ala)
c.8180A>C (p.Glu2727Ala)
c.8015A>C (p.Glu2672Ala)
c.6164A>C (p.Glu2055Ala)
c.3854A>C (p.Glu1285Ala)
n.8553A>C
18g.23928230A>GCA402063423LAMA3c.3458A>G (p.Glu1153Gly)
c.8285A>G (p.Glu2762Gly)
c.4880A>G (p.Glu1627Gly)
c.8117A>G (p.Glu2706Gly)
c.3063A>G
c.3290A>G (p.Glu1097Gly)
n.2863A>G
c.8312A>G (p.Glu2771Gly)
c.8303A>G (p.Glu2768Gly)
c.8294A>G (p.Glu2765Gly)
c.8180A>G (p.Glu2727Gly)
c.8015A>G (p.Glu2672Gly)
c.6164A>G (p.Glu2055Gly)
c.3854A>G (p.Glu1285Gly)
n.8553A>G
18g.23928230A>TCA402063431LAMA3c.3458A>T (p.Glu1153Val)
c.8285A>T (p.Glu2762Val)
c.4880A>T (p.Glu1627Val)
c.8117A>T (p.Glu2706Val)
c.3063A>T
c.3290A>T (p.Glu1097Val)
n.2863A>T
c.8312A>T (p.Glu2771Val)
c.8303A>T (p.Glu2768Val)
c.8294A>T (p.Glu2765Val)
c.8180A>T (p.Glu2727Val)
c.8015A>T (p.Glu2672Val)
c.6164A>T (p.Glu2055Val)
c.3854A>T (p.Glu1285Val)
n.8553A>T
18g.23928231A>CCA402063433LAMA3c.3459A>C (p.Glu1153Asp)
c.8286A>C (p.Glu2762Asp)
c.4881A>C (p.Glu1627Asp)
c.8118A>C (p.Glu2706Asp)
c.3064A>C
c.3291A>C (p.Glu1097Asp)
n.2864A>C
c.8313A>C (p.Glu2771Asp)
c.8304A>C (p.Glu2768Asp)
c.8295A>C (p.Glu2765Asp)
c.8181A>C (p.Glu2727Asp)
c.8016A>C (p.Glu2672Asp)
c.6165A>C (p.Glu2055Asp)
c.3855A>C (p.Glu1285Asp)
n.8554A>C
 COSMIC COSMIC
18g.23928231A>GCA503340673LAMA3c.3459A>G (p.Glu1153=)
c.8286A>G (p.Glu2762=)
c.4881A>G (p.Glu1627=)
c.8118A>G (p.Glu2706=)
c.3064A>G
c.3291A>G (p.Glu1097=)
n.2864A>G
c.8313A>G (p.Glu2771=)
c.8304A>G (p.Glu2768=)
c.8295A>G (p.Glu2765=)
c.8181A>G (p.Glu2727=)
c.8016A>G (p.Glu2672=)
c.6165A>G (p.Glu2055=)
c.3855A>G (p.Glu1285=)
n.8554A>G
18g.23928231A>TCA402063436LAMA3c.3459A>T (p.Glu1153Asp)
c.8286A>T (p.Glu2762Asp)
c.4881A>T (p.Glu1627Asp)
c.8118A>T (p.Glu2706Asp)
c.3064A>T
c.3291A>T (p.Glu1097Asp)
n.2864A>T
c.8313A>T (p.Glu2771Asp)
c.8304A>T (p.Glu2768Asp)
c.8295A>T (p.Glu2765Asp)
c.8181A>T (p.Glu2727Asp)
c.8016A>T (p.Glu2672Asp)
c.6165A>T (p.Glu2055Asp)
c.3855A>T (p.Glu1285Asp)
n.8554A>T
18g.23928231_23928232delinsAGCA2290334636LAMA3c.3459_3460delinsAG (p.Glu1153=)
c.8286_8287delinsAG (p.Glu2762=)
c.4881_4882delinsAG (p.Glu1627=)
c.8118_8119delinsAG (p.Glu2706=)
c.3064_3065delinsAG
c.3291_3292delinsAG (p.Glu1097=)
n.2864_2865delinsAG
c.8313_8314delinsAG (p.Glu2771=)
c.8304_8305delinsAG (p.Glu2768=)
c.8295_8296delinsAG (p.Glu2765=)
c.8181_8182delinsAG (p.Glu2727=)
c.8016_8017delinsAG (p.Glu2672=)
c.6165_6166delinsAG (p.Glu2055=)
c.3855_3856delinsAG (p.Glu1285=)
n.8554_8555delinsAG
18g.23928232delCA628685880LAMA3c.3460del (p.Asp1154ThrfsTer16)
c.8287del (p.Asp2763ThrfsTer16)
c.4882del (p.Asp1628ThrfsTer16)
c.8119del (p.Asp2707ThrfsTer16)
c.3065del
c.3292del (p.Asp1098ThrfsTer16)
n.2865del
c.8314del (p.Asp2772ThrfsTer16)
c.8305del (p.Asp2769ThrfsTer16)
c.8296del (p.Asp2766ThrfsTer16)
c.8182del (p.Asp2728ThrfsTer16)
c.8017del (p.Asp2673ThrfsTer16)
c.6166del (p.Asp2056ThrfsTer16)
c.3856del (p.Asp1286ThrfsTer16)
n.8555del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23928232G>ACA402063439LAMA3c.3460G>A (p.Asp1154Asn)
c.8287G>A (p.Asp2763Asn)
c.4882G>A (p.Asp1628Asn)
c.8119G>A (p.Asp2707Asn)
c.3065G>A
c.3292G>A (p.Asp1098Asn)
n.2865G>A
c.8314G>A (p.Asp2772Asn)
c.8305G>A (p.Asp2769Asn)
c.8296G>A (p.Asp2766Asn)
c.8182G>A (p.Asp2728Asn)
c.8017G>A (p.Asp2673Asn)
c.6166G>A (p.Asp2056Asn)
c.3856G>A (p.Asp1286Asn)
n.8555G>A
 gnomAD v4
18g.23928232G>CCA402063442LAMA3c.3460G>C (p.Asp1154His)
c.8287G>C (p.Asp2763His)
c.4882G>C (p.Asp1628His)
c.8119G>C (p.Asp2707His)
c.3065G>C
c.3292G>C (p.Asp1098His)
n.2865G>C
c.8314G>C (p.Asp2772His)
c.8305G>C (p.Asp2769His)
c.8296G>C (p.Asp2766His)
c.8182G>C (p.Asp2728His)
c.8017G>C (p.Asp2673His)
c.6166G>C (p.Asp2056His)
c.3856G>C (p.Asp1286His)
n.8555G>C
18g.23928232G>TCA402063444LAMA3c.3460G>T (p.Asp1154Tyr)
c.8287G>T (p.Asp2763Tyr)
c.4882G>T (p.Asp1628Tyr)
c.8119G>T (p.Asp2707Tyr)
c.3065G>T
c.3292G>T (p.Asp1098Tyr)
n.2865G>T
c.8314G>T (p.Asp2772Tyr)
c.8305G>T (p.Asp2769Tyr)
c.8296G>T (p.Asp2766Tyr)
c.8182G>T (p.Asp2728Tyr)
c.8017G>T (p.Asp2673Tyr)
c.6166G>T (p.Asp2056Tyr)
c.3856G>T (p.Asp1286Tyr)
n.8555G>T
18g.23928233A>CCA402063448LAMA3c.3461A>C (p.Asp1154Ala)
c.8288A>C (p.Asp2763Ala)
c.4883A>C (p.Asp1628Ala)
c.8120A>C (p.Asp2707Ala)
c.3066A>C
c.3293A>C (p.Asp1098Ala)
n.2866A>C
c.8315A>C (p.Asp2772Ala)
c.8306A>C (p.Asp2769Ala)
c.8297A>C (p.Asp2766Ala)
c.8183A>C (p.Asp2728Ala)
c.8018A>C (p.Asp2673Ala)
c.6167A>C (p.Asp2056Ala)
c.3857A>C (p.Asp1286Ala)
n.8556A>C
18g.23928233A>GCA402063450LAMA3c.3461A>G (p.Asp1154Gly)
c.8288A>G (p.Asp2763Gly)
c.4883A>G (p.Asp1628Gly)
c.8120A>G (p.Asp2707Gly)
c.3066A>G
c.3293A>G (p.Asp1098Gly)
n.2866A>G
c.8315A>G (p.Asp2772Gly)
c.8306A>G (p.Asp2769Gly)
c.8297A>G (p.Asp2766Gly)
c.8183A>G (p.Asp2728Gly)
c.8018A>G (p.Asp2673Gly)
c.6167A>G (p.Asp2056Gly)
c.3857A>G (p.Asp1286Gly)
n.8556A>G
18g.23928233A>TCA402063454LAMA3c.3461A>T (p.Asp1154Val)
c.8288A>T (p.Asp2763Val)
c.4883A>T (p.Asp1628Val)
c.8120A>T (p.Asp2707Val)
c.3066A>T
c.3293A>T (p.Asp1098Val)
n.2866A>T
c.8315A>T (p.Asp2772Val)
c.8306A>T (p.Asp2769Val)
c.8297A>T (p.Asp2766Val)
c.8183A>T (p.Asp2728Val)
c.8018A>T (p.Asp2673Val)
c.6167A>T (p.Asp2056Val)
c.3857A>T (p.Asp1286Val)
n.8556A>T
 COSMIC COSMIC
18g.23928234C>ACA402063461LAMA3c.3462C>A (p.Asp1154Glu)
c.8289C>A (p.Asp2763Glu)
c.4884C>A (p.Asp1628Glu)
c.8121C>A (p.Asp2707Glu)
c.3067C>A
c.3294C>A (p.Asp1098Glu)
n.2867C>A
c.8316C>A (p.Asp2772Glu)
c.8307C>A (p.Asp2769Glu)
c.8298C>A (p.Asp2766Glu)
c.8184C>A (p.Asp2728Glu)
c.8019C>A (p.Asp2673Glu)
c.6168C>A (p.Asp2056Glu)
c.3858C>A (p.Asp1286Glu)
n.8557C>A
 gnomAD v4
18g.23928234C>GCA402063465LAMA3c.3462C>G (p.Asp1154Glu)
c.8289C>G (p.Asp2763Glu)
c.4884C>G (p.Asp1628Glu)
c.8121C>G (p.Asp2707Glu)
c.3067C>G
c.3294C>G (p.Asp1098Glu)
n.2867C>G
c.8316C>G (p.Asp2772Glu)
c.8307C>G (p.Asp2769Glu)
c.8298C>G (p.Asp2766Glu)
c.8184C>G (p.Asp2728Glu)
c.8019C>G (p.Asp2673Glu)
c.6168C>G (p.Asp2056Glu)
c.3858C>G (p.Asp1286Glu)
n.8557C>G
 gnomAD v4
18g.23928234C>TCA503340677LAMA3c.3462C>T (p.Asp1154=)
c.8289C>T (p.Asp2763=)
c.4884C>T (p.Asp1628=)
c.8121C>T (p.Asp2707=)
c.3067C>T
c.3294C>T (p.Asp1098=)
n.2867C>T
c.8316C>T (p.Asp2772=)
c.8307C>T (p.Asp2769=)
c.8298C>T (p.Asp2766=)
c.8184C>T (p.Asp2728=)
c.8019C>T (p.Asp2673=)
c.6168C>T (p.Asp2056=)
c.3858C>T (p.Asp1286=)
n.8557C>T
18g.23928235T>ACA402063468LAMA3c.3463T>A (p.Trp1155Arg)
c.8290T>A (p.Trp2764Arg)
c.4885T>A (p.Trp1629Arg)
c.8122T>A (p.Trp2708Arg)
c.3068T>A
c.3295T>A (p.Trp1099Arg)
n.2868T>A
c.8317T>A (p.Trp2773Arg)
c.8308T>A (p.Trp2770Arg)
c.8299T>A (p.Trp2767Arg)
c.8185T>A (p.Trp2729Arg)
c.8020T>A (p.Trp2674Arg)
c.6169T>A (p.Trp2057Arg)
c.3859T>A (p.Trp1287Arg)
n.8558T>A
18g.23928235T>CCA402063470LAMA3c.3463T>C (p.Trp1155Arg)
c.8290T>C (p.Trp2764Arg)
c.4885T>C (p.Trp1629Arg)
c.8122T>C (p.Trp2708Arg)
c.3068T>C
c.3295T>C (p.Trp1099Arg)
n.2868T>C
c.8317T>C (p.Trp2773Arg)
c.8308T>C (p.Trp2770Arg)
c.8299T>C (p.Trp2767Arg)
c.8185T>C (p.Trp2729Arg)
c.8020T>C (p.Trp2674Arg)
c.6169T>C (p.Trp2057Arg)
c.3859T>C (p.Trp1287Arg)
n.8558T>C
18g.23928235T>GCA402063473LAMA3c.3463T>G (p.Trp1155Gly)
c.8290T>G (p.Trp2764Gly)
c.4885T>G (p.Trp1629Gly)
c.8122T>G (p.Trp2708Gly)
c.3068T>G
c.3295T>G (p.Trp1099Gly)
n.2868T>G
c.8317T>G (p.Trp2773Gly)
c.8308T>G (p.Trp2770Gly)
c.8299T>G (p.Trp2767Gly)
c.8185T>G (p.Trp2729Gly)
c.8020T>G (p.Trp2674Gly)
c.6169T>G (p.Trp2057Gly)
c.3859T>G (p.Trp1287Gly)
n.8558T>G
18g.23928236G>ACA8916884LAMA3c.3464G>A (p.Trp1155Ter)
c.8291G>A (p.Trp2764Ter)
c.4886G>A (p.Trp1629Ter)
c.8123G>A (p.Trp2708Ter)
c.3069G>A
c.3296G>A (p.Trp1099Ter)
n.2869G>A
c.8318G>A (p.Trp2773Ter)
c.8309G>A (p.Trp2770Ter)
c.8300G>A (p.Trp2767Ter)
c.8186G>A (p.Trp2729Ter)
c.8021G>A (p.Trp2674Ter)
c.6170G>A (p.Trp2057Ter)
c.3860G>A (p.Trp1287Ter)
n.8559G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23928236G>CCA402063478LAMA3c.3464G>C (p.Trp1155Ser)
c.8291G>C (p.Trp2764Ser)
c.4886G>C (p.Trp1629Ser)
c.8123G>C (p.Trp2708Ser)
c.3069G>C
c.3296G>C (p.Trp1099Ser)
n.2869G>C
c.8318G>C (p.Trp2773Ser)
c.8309G>C (p.Trp2770Ser)
c.8300G>C (p.Trp2767Ser)
c.8186G>C (p.Trp2729Ser)
c.8021G>C (p.Trp2674Ser)
c.6170G>C (p.Trp2057Ser)
c.3860G>C (p.Trp1287Ser)
n.8559G>C
18g.23928236G=CA2290334637LAMA3c.3464G= (p.Trp1155=)
c.8291G= (p.Trp2764=)
c.4886G= (p.Trp1629=)
c.8123G= (p.Trp2708=)
c.3069G=
c.3296G= (p.Trp1099=)
n.2869G=
c.8318G= (p.Trp2773=)
c.8309G= (p.Trp2770=)
c.8300G= (p.Trp2767=)
c.8186G= (p.Trp2729=)
c.8021G= (p.Trp2674=)
c.6170G= (p.Trp2057=)
c.3860G= (p.Trp1287=)
n.8559G=
18g.23928236G>TCA402063477LAMA3c.3464G>T (p.Trp1155Leu)
c.8291G>T (p.Trp2764Leu)
c.4886G>T (p.Trp1629Leu)
c.8123G>T (p.Trp2708Leu)
c.3069G>T
c.3296G>T (p.Trp1099Leu)
n.2869G>T
c.8318G>T (p.Trp2773Leu)
c.8309G>T (p.Trp2770Leu)
c.8300G>T (p.Trp2767Leu)
c.8186G>T (p.Trp2729Leu)
c.8021G>T (p.Trp2674Leu)
c.6170G>T (p.Trp2057Leu)
c.3860G>T (p.Trp1287Leu)
n.8559G>T
18g.23928237G>ACA402063481LAMA3c.3465G>A (p.Trp1155Ter)
c.8292G>A (p.Trp2764Ter)
c.4887G>A (p.Trp1629Ter)
c.8124G>A (p.Trp2708Ter)
c.3070G>A
c.3297G>A (p.Trp1099Ter)
n.2870G>A
c.8319G>A (p.Trp2773Ter)
c.8310G>A (p.Trp2770Ter)
c.8301G>A (p.Trp2767Ter)
c.8187G>A (p.Trp2729Ter)
c.8022G>A (p.Trp2674Ter)
c.6171G>A (p.Trp2057Ter)
c.3861G>A (p.Trp1287Ter)
n.8560G>A
 ClinVar dbSNP gnomAD v4
18g.23928237G>CCA402063484LAMA3c.3465G>C (p.Trp1155Cys)
c.8292G>C (p.Trp2764Cys)
c.4887G>C (p.Trp1629Cys)
c.8124G>C (p.Trp2708Cys)
c.3070G>C
c.3297G>C (p.Trp1099Cys)
n.2870G>C
c.8319G>C (p.Trp2773Cys)
c.8310G>C (p.Trp2770Cys)
c.8301G>C (p.Trp2767Cys)
c.8187G>C (p.Trp2729Cys)
c.8022G>C (p.Trp2674Cys)
c.6171G>C (p.Trp2057Cys)
c.3861G>C (p.Trp1287Cys)
n.8560G>C
18g.23928237G=CA2290334638LAMA3c.3465G= (p.Trp1155=)
c.8292G= (p.Trp2764=)
c.4887G= (p.Trp1629=)
c.8124G= (p.Trp2708=)
c.3070G=
c.3297G= (p.Trp1099=)
n.2870G=
c.8319G= (p.Trp2773=)
c.8310G= (p.Trp2770=)
c.8301G= (p.Trp2767=)
c.8187G= (p.Trp2729=)
c.8022G= (p.Trp2674=)
c.6171G= (p.Trp2057=)
c.3861G= (p.Trp1287=)
n.8560G=
18g.23928237G>TCA402063486LAMA3c.3465G>T (p.Trp1155Cys)
c.8292G>T (p.Trp2764Cys)
c.4887G>T (p.Trp1629Cys)
c.8124G>T (p.Trp2708Cys)
c.3070G>T
c.3297G>T (p.Trp1099Cys)
n.2870G>T
c.8319G>T (p.Trp2773Cys)
c.8310G>T (p.Trp2770Cys)
c.8301G>T (p.Trp2767Cys)
c.8187G>T (p.Trp2729Cys)
c.8022G>T (p.Trp2674Cys)
c.6171G>T (p.Trp2057Cys)
c.3861G>T (p.Trp1287Cys)
n.8560G>T
18g.23928238A>CCA402063491LAMA3c.3466A>C (p.Lys1156Gln)
c.8293A>C (p.Lys2765Gln)
c.4888A>C (p.Lys1630Gln)
c.8125A>C (p.Lys2709Gln)
c.3071A>C
c.3298A>C (p.Lys1100Gln)
n.2871A>C
c.8320A>C (p.Lys2774Gln)
c.8311A>C (p.Lys2771Gln)
c.8302A>C (p.Lys2768Gln)
c.8188A>C (p.Lys2730Gln)
c.8023A>C (p.Lys2675Gln)
c.6172A>C (p.Lys2058Gln)
c.3862A>C (p.Lys1288Gln)
n.8561A>C
18g.23928238A>GCA402063494LAMA3c.3466A>G (p.Lys1156Glu)
c.8293A>G (p.Lys2765Glu)
c.4888A>G (p.Lys1630Glu)
c.8125A>G (p.Lys2709Glu)
c.3071A>G
c.3298A>G (p.Lys1100Glu)
n.2871A>G
c.8320A>G (p.Lys2774Glu)
c.8311A>G (p.Lys2771Glu)
c.8302A>G (p.Lys2768Glu)
c.8188A>G (p.Lys2730Glu)
c.8023A>G (p.Lys2675Glu)
c.6172A>G (p.Lys2058Glu)
c.3862A>G (p.Lys1288Glu)
n.8561A>G
 gnomAD v4
18g.23928238A>TCA402063498LAMA3c.3466A>T (p.Lys1156Ter)
c.8293A>T (p.Lys2765Ter)
c.4888A>T (p.Lys1630Ter)
c.8125A>T (p.Lys2709Ter)
c.3071A>T
c.3298A>T (p.Lys1100Ter)
n.2871A>T
c.8320A>T (p.Lys2774Ter)
c.8311A>T (p.Lys2771Ter)
c.8302A>T (p.Lys2768Ter)
c.8188A>T (p.Lys2730Ter)
c.8023A>T (p.Lys2675Ter)
c.6172A>T (p.Lys2058Ter)
c.3862A>T (p.Lys1288Ter)
n.8561A>T
18g.23928241_23928251delCA2740093989LAMA3c.3468+1_3468+11del
c.8295+1_8295+11del
c.4890+1_4890+11del
c.8127+1_8127+11del
c.3073+1_3073+11del
c.3300+1_3300+11del
n.2873+1_2873+11del
c.8322+1_8322+11del
c.8313+1_8313+11del
c.8304+1_8304+11del
c.8190+1_8190+11del
c.8025+1_8025+11del
c.6174+1_6174+11del
c.3864+1_3864+11del
n.8563+1_8563+11del
 ClinVar
18g.23928239A>CCA402063508LAMA3c.3467A>C (p.Lys1156Thr)
c.8294A>C (p.Lys2765Thr)
c.4889A>C (p.Lys1630Thr)
c.8126A>C (p.Lys2709Thr)
c.3072A>C
c.3299A>C (p.Lys1100Thr)
n.2872A>C
c.8321A>C (p.Lys2774Thr)
c.8312A>C (p.Lys2771Thr)
c.8303A>C (p.Lys2768Thr)
c.8189A>C (p.Lys2730Thr)
c.8024A>C (p.Lys2675Thr)
c.6173A>C (p.Lys2058Thr)
c.3863A>C (p.Lys1288Thr)
n.8562A>C
18g.23928239A>GCA402063502LAMA3c.3467A>G (p.Lys1156Arg)
c.8294A>G (p.Lys2765Arg)
c.4889A>G (p.Lys1630Arg)
c.8126A>G (p.Lys2709Arg)
c.3072A>G
c.3299A>G (p.Lys1100Arg)
n.2872A>G
c.8321A>G (p.Lys2774Arg)
c.8312A>G (p.Lys2771Arg)
c.8303A>G (p.Lys2768Arg)
c.8189A>G (p.Lys2730Arg)
c.8024A>G (p.Lys2675Arg)
c.6173A>G (p.Lys2058Arg)
c.3863A>G (p.Lys1288Arg)
n.8562A>G
18g.23928239A>TCA402063505LAMA3c.3467A>T (p.Lys1156Met)
c.8294A>T (p.Lys2765Met)
c.4889A>T (p.Lys1630Met)
c.8126A>T (p.Lys2709Met)
c.3072A>T
c.3299A>T (p.Lys1100Met)
n.2872A>T
c.8321A>T (p.Lys2774Met)
c.8312A>T (p.Lys2771Met)
c.8303A>T (p.Lys2768Met)
c.8189A>T (p.Lys2730Met)
c.8024A>T (p.Lys2675Met)
c.6173A>T (p.Lys2058Met)
c.3863A>T (p.Lys1288Met)
n.8562A>T
18g.23928240G>ACA503340681LAMA3c.3468G>A (p.Lys1156=)
c.8295G>A (p.Lys2765=)
c.4890G>A (p.Lys1630=)
c.8127G>A (p.Lys2709=)
c.3073G>A
c.3300G>A (p.Lys1100=)
n.2873G>A
c.8322G>A (p.Lys2774=)
c.8313G>A (p.Lys2771=)
c.8304G>A (p.Lys2768=)
c.8190G>A (p.Lys2730=)
c.8025G>A (p.Lys2675=)
c.6174G>A (p.Lys2058=)
c.3864G>A (p.Lys1288=)
n.8563G>A
 gnomAD v4
18g.23928240G>CCA402063511LAMA3c.3468G>C (p.Lys1156Asn)
c.8295G>C (p.Lys2765Asn)
c.4890G>C (p.Lys1630Asn)
c.8127G>C (p.Lys2709Asn)
c.3073G>C
c.3300G>C (p.Lys1100Asn)
n.2873G>C
c.8322G>C (p.Lys2774Asn)
c.8313G>C (p.Lys2771Asn)
c.8304G>C (p.Lys2768Asn)
c.8190G>C (p.Lys2730Asn)
c.8025G>C (p.Lys2675Asn)
c.6174G>C (p.Lys2058Asn)
c.3864G>C (p.Lys1288Asn)
n.8563G>C
18g.23928240G>TCA402063512LAMA3c.3468G>T (p.Lys1156Asn)
c.8295G>T (p.Lys2765Asn)
c.4890G>T (p.Lys1630Asn)
c.8127G>T (p.Lys2709Asn)
c.3073G>T
c.3300G>T (p.Lys1100Asn)
n.2873G>T
c.8322G>T (p.Lys2774Asn)
c.8313G>T (p.Lys2771Asn)
c.8304G>T (p.Lys2768Asn)
c.8190G>T (p.Lys2730Asn)
c.8025G>T (p.Lys2675Asn)
c.6174G>T (p.Lys2058Asn)
c.3864G>T (p.Lys1288Asn)
n.8563G>T
18g.23928241G>ACA402063515LAMA3c.3468+1G>A (n.3468+1G>A)
c.8295+1G>A (n.8295+1G>A)
c.4890+1G>A (n.4890+1G>A)
c.8127+1G>A (n.8127+1G>A)
c.3073+1G>A
c.3300+1G>A (n.3300+1G>A)
n.2873+1G>A
c.8322+1G>A (n.8322+1G>A)
c.8313+1G>A (n.8313+1G>A)
c.8304+1G>A (n.8304+1G>A)
c.8190+1G>A (n.8190+1G>A)
c.8025+1G>A (n.8025+1G>A)
c.6174+1G>A (n.6174+1G>A)
c.3864+1G>A (n.3864+1G>A)
n.8563+1G>A
 gnomAD v4
18g.23928241G>CCA402063518LAMA3c.3468+1G>C (n.3468+1G>C)
c.8295+1G>C (n.8295+1G>C)
c.4890+1G>C (n.4890+1G>C)
c.8127+1G>C (n.8127+1G>C)
c.3073+1G>C
c.3300+1G>C (n.3300+1G>C)
n.2873+1G>C
c.8322+1G>C (n.8322+1G>C)
c.8313+1G>C (n.8313+1G>C)
c.8304+1G>C (n.8304+1G>C)
c.8190+1G>C (n.8190+1G>C)
c.8025+1G>C (n.8025+1G>C)
c.6174+1G>C (n.6174+1G>C)
c.3864+1G>C (n.3864+1G>C)
n.8563+1G>C
18g.23928241G>TCA402063521LAMA3c.3468+1G>T (n.3468+1G>T)
c.8295+1G>T (n.8295+1G>T)
c.4890+1G>T (n.4890+1G>T)
c.8127+1G>T (n.8127+1G>T)
c.3073+1G>T
c.3300+1G>T (n.3300+1G>T)
n.2873+1G>T
c.8322+1G>T (n.8322+1G>T)
c.8313+1G>T (n.8313+1G>T)
c.8304+1G>T (n.8304+1G>T)
c.8190+1G>T (n.8190+1G>T)
c.8025+1G>T (n.8025+1G>T)
c.6174+1G>T (n.6174+1G>T)
c.3864+1G>T (n.3864+1G>T)
n.8563+1G>T
18g.23928242T>ACA402063526LAMA3c.3468+2T>A (n.3468+2T>A)
c.8295+2T>A (n.8295+2T>A)
c.4890+2T>A (n.4890+2T>A)
c.8127+2T>A (n.8127+2T>A)
c.3073+2T>A
c.3300+2T>A (n.3300+2T>A)
n.2873+2T>A
c.8322+2T>A (n.8322+2T>A)
c.8313+2T>A (n.8313+2T>A)
c.8304+2T>A (n.8304+2T>A)
c.8190+2T>A (n.8190+2T>A)
c.8025+2T>A (n.8025+2T>A)
c.6174+2T>A (n.6174+2T>A)
c.3864+2T>A (n.3864+2T>A)
n.8563+2T>A
18g.23928242T>CCA402063535LAMA3c.3468+2T>C (n.3468+2T>C)
c.8295+2T>C (n.8295+2T>C)
c.4890+2T>C (n.4890+2T>C)
c.8127+2T>C (n.8127+2T>C)
c.3073+2T>C
c.3300+2T>C (n.3300+2T>C)
n.2873+2T>C
c.8322+2T>C (n.8322+2T>C)
c.8313+2T>C (n.8313+2T>C)
c.8304+2T>C (n.8304+2T>C)
c.8190+2T>C (n.8190+2T>C)
c.8025+2T>C (n.8025+2T>C)
c.6174+2T>C (n.6174+2T>C)
c.3864+2T>C (n.3864+2T>C)
n.8563+2T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23928242T>GCA402063531LAMA3c.3468+2T>G (n.3468+2T>G)
c.8295+2T>G (n.8295+2T>G)
c.4890+2T>G (n.4890+2T>G)
c.8127+2T>G (n.8127+2T>G)
c.3073+2T>G
c.3300+2T>G (n.3300+2T>G)
n.2873+2T>G
c.8322+2T>G (n.8322+2T>G)
c.8313+2T>G (n.8313+2T>G)
c.8304+2T>G (n.8304+2T>G)
c.8190+2T>G (n.8190+2T>G)
c.8025+2T>G (n.8025+2T>G)
c.6174+2T>G (n.6174+2T>G)
c.3864+2T>G (n.3864+2T>G)
n.8563+2T>G
18g.23928242T=CA2290334639LAMA3c.3468+2T= (n.3468+2T=)
c.8295+2T= (n.8295+2T=)
c.4890+2T= (n.4890+2T=)
c.8127+2T= (n.8127+2T=)
c.3073+2T=
c.3300+2T= (n.3300+2T=)
n.2873+2T=
c.8322+2T= (n.8322+2T=)
c.8313+2T= (n.8313+2T=)
c.8304+2T= (n.8304+2T=)
c.8190+2T= (n.8190+2T=)
c.8025+2T= (n.8025+2T=)
c.6174+2T= (n.6174+2T=)
c.3864+2T= (n.3864+2T=)
n.8563+2T=
18g.23928243A=CA2290334640LAMA3c.3468+3A= (n.3468+3A=)
c.8295+3A= (n.8295+3A=)
c.4890+3A= (n.4890+3A=)
c.8127+3A= (n.8127+3A=)
c.3073+3A=
c.3300+3A= (n.3300+3A=)
n.2873+3A=
c.8322+3A= (n.8322+3A=)
c.8313+3A= (n.8313+3A=)
c.8304+3A= (n.8304+3A=)
c.8190+3A= (n.8190+3A=)
c.8025+3A= (n.8025+3A=)
c.6174+3A= (n.6174+3A=)
c.3864+3A= (n.3864+3A=)
n.8563+3A=
18g.23928243A>GCA2290334641LAMA3c.3468+3A>G (n.3468+3A>G)
c.8295+3A>G (n.8295+3A>G)
c.4890+3A>G (n.4890+3A>G)
c.8127+3A>G (n.8127+3A>G)
c.3073+3A>G
c.3300+3A>G (n.3300+3A>G)
n.2873+3A>G
c.8322+3A>G (n.8322+3A>G)
c.8313+3A>G (n.8313+3A>G)
c.8304+3A>G (n.8304+3A>G)
c.8190+3A>G (n.8190+3A>G)
c.8025+3A>G (n.8025+3A>G)
c.6174+3A>G (n.6174+3A>G)
c.3864+3A>G (n.3864+3A>G)
n.8563+3A>G
 dbSNP gnomAD v4
18g.23928244A=CA2290334642LAMA3c.3468+4A= (n.3468+4A=)
c.8295+4A= (n.8295+4A=)
c.4890+4A= (n.4890+4A=)
c.8127+4A= (n.8127+4A=)
c.3073+4A=
c.3300+4A= (n.3300+4A=)
n.2873+4A=
c.8322+4A= (n.8322+4A=)
c.8313+4A= (n.8313+4A=)
c.8304+4A= (n.8304+4A=)
c.8190+4A= (n.8190+4A=)
c.8025+4A= (n.8025+4A=)
c.6174+4A= (n.6174+4A=)
c.3864+4A= (n.3864+4A=)
n.8563+4A=
18g.23928244A>CCA2290334643LAMA3c.3468+4A>C (n.3468+4A>C)
c.8295+4A>C (n.8295+4A>C)
c.4890+4A>C (n.4890+4A>C)
c.8127+4A>C (n.8127+4A>C)
c.3073+4A>C
c.3300+4A>C (n.3300+4A>C)
n.2873+4A>C
c.8322+4A>C (n.8322+4A>C)
c.8313+4A>C (n.8313+4A>C)
c.8304+4A>C (n.8304+4A>C)
c.8190+4A>C (n.8190+4A>C)
c.8025+4A>C (n.8025+4A>C)
c.6174+4A>C (n.6174+4A>C)
c.3864+4A>C (n.3864+4A>C)
n.8563+4A>C
 dbSNP
18g.23928245G>ACA2290334645LAMA3c.3468+5G>A (n.3468+5G>A)
c.8295+5G>A (n.8295+5G>A)
c.4890+5G>A (n.4890+5G>A)
c.8127+5G>A (n.8127+5G>A)
c.3073+5G>A
c.3300+5G>A (n.3300+5G>A)
n.2873+5G>A
c.8322+5G>A (n.8322+5G>A)
c.8313+5G>A (n.8313+5G>A)
c.8304+5G>A (n.8304+5G>A)
c.8190+5G>A (n.8190+5G>A)
c.8025+5G>A (n.8025+5G>A)
c.6174+5G>A (n.6174+5G>A)
c.3864+5G>A (n.3864+5G>A)
n.8563+5G>A
 dbSNP gnomAD v4
18g.23928245G=CA2290334644LAMA3c.3468+5G= (n.3468+5G=)
c.8295+5G= (n.8295+5G=)
c.4890+5G= (n.4890+5G=)
c.8127+5G= (n.8127+5G=)
c.3073+5G=
c.3300+5G= (n.3300+5G=)
n.2873+5G=
c.8322+5G= (n.8322+5G=)
c.8313+5G= (n.8313+5G=)
c.8304+5G= (n.8304+5G=)
c.8190+5G= (n.8190+5G=)
c.8025+5G= (n.8025+5G=)
c.6174+5G= (n.6174+5G=)
c.3864+5G= (n.3864+5G=)
n.8563+5G=
18g.23928246T>ACA2641297344LAMA3c.3468+6T>A (n.3468+6T>A)
c.8295+6T>A (n.8295+6T>A)
c.4890+6T>A (n.4890+6T>A)
c.8127+6T>A (n.8127+6T>A)
c.3073+6T>A
c.3300+6T>A (n.3300+6T>A)
n.2873+6T>A
c.8322+6T>A (n.8322+6T>A)
c.8313+6T>A (n.8313+6T>A)
c.8304+6T>A (n.8304+6T>A)
c.8190+6T>A (n.8190+6T>A)
c.8025+6T>A (n.8025+6T>A)
c.6174+6T>A (n.6174+6T>A)
c.3864+6T>A (n.3864+6T>A)
n.8563+6T>A
 gnomAD v4
18g.23928246T>GCA628685881LAMA3c.3468+6T>G (n.3468+6T>G)
c.8295+6T>G (n.8295+6T>G)
c.4890+6T>G (n.4890+6T>G)
c.8127+6T>G (n.8127+6T>G)
c.3073+6T>G
c.3300+6T>G (n.3300+6T>G)
n.2873+6T>G
c.8322+6T>G (n.8322+6T>G)
c.8313+6T>G (n.8313+6T>G)
c.8304+6T>G (n.8304+6T>G)
c.8190+6T>G (n.8190+6T>G)
c.8025+6T>G (n.8025+6T>G)
c.6174+6T>G (n.6174+6T>G)
c.3864+6T>G (n.3864+6T>G)
n.8563+6T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23928246T=CA2290334646LAMA3c.3468+6T= (n.3468+6T=)
c.8295+6T= (n.8295+6T=)
c.4890+6T= (n.4890+6T=)
c.8127+6T= (n.8127+6T=)
c.3073+6T=
c.3300+6T= (n.3300+6T=)
n.2873+6T=
c.8322+6T= (n.8322+6T=)
c.8313+6T= (n.8313+6T=)
c.8304+6T= (n.8304+6T=)
c.8190+6T= (n.8190+6T=)
c.8025+6T= (n.8025+6T=)
c.6174+6T= (n.6174+6T=)
c.3864+6T= (n.3864+6T=)
n.8563+6T=
18g.23928247G>ACA2573155149LAMA3c.3468+7G>A (n.3468+7G>A)
c.8295+7G>A (n.8295+7G>A)
c.4890+7G>A (n.4890+7G>A)
c.8127+7G>A (n.8127+7G>A)
c.3073+7G>A
c.3300+7G>A (n.3300+7G>A)
n.2873+7G>A
c.8322+7G>A (n.8322+7G>A)
c.8313+7G>A (n.8313+7G>A)
c.8304+7G>A (n.8304+7G>A)
c.8190+7G>A (n.8190+7G>A)
c.8025+7G>A (n.8025+7G>A)
c.6174+7G>A (n.6174+7G>A)
c.3864+7G>A (n.3864+7G>A)
n.8563+7G>A
 ClinVar dbSNP
18g.23928248A=CA2290334647LAMA3c.3468+8A= (n.3468+8A=)
c.8295+8A= (n.8295+8A=)
c.4890+8A= (n.4890+8A=)
c.8127+8A= (n.8127+8A=)
c.3073+8A=
c.3300+8A= (n.3300+8A=)
n.2873+8A=
c.8322+8A= (n.8322+8A=)
c.8313+8A= (n.8313+8A=)
c.8304+8A= (n.8304+8A=)
c.8190+8A= (n.8190+8A=)
c.8025+8A= (n.8025+8A=)
c.6174+8A= (n.6174+8A=)
c.3864+8A= (n.3864+8A=)
n.8563+8A=
18g.23928248A>GCA988404783LAMA3c.3468+8A>G (n.3468+8A>G)
c.8295+8A>G (n.8295+8A>G)
c.4890+8A>G (n.4890+8A>G)
c.8127+8A>G (n.8127+8A>G)
c.3073+8A>G
c.3300+8A>G (n.3300+8A>G)
n.2873+8A>G
c.8322+8A>G (n.8322+8A>G)
c.8313+8A>G (n.8313+8A>G)
c.8304+8A>G (n.8304+8A>G)
c.8190+8A>G (n.8190+8A>G)
c.8025+8A>G (n.8025+8A>G)
c.6174+8A>G (n.6174+8A>G)
c.3864+8A>G (n.3864+8A>G)
n.8563+8A>G
 dbSNP gnomAD v4
18g.23928250dupCA2580095531LAMA3c.3468+10dup (n.3468+10dup)
c.8295+10dup (n.8295+10dup)
c.4890+10dup (n.4890+10dup)
c.8127+10dup (n.8127+10dup)
c.3073+10dup
c.3300+10dup (n.3300+10dup)
n.2873+10dup
c.8322+10dup (n.8322+10dup)
c.8313+10dup (n.8313+10dup)
c.8304+10dup (n.8304+10dup)
c.8190+10dup (n.8190+10dup)
c.8025+10dup (n.8025+10dup)
c.6174+10dup (n.6174+10dup)
c.3864+10dup (n.3864+10dup)
n.8563+10dup
 ClinVar gnomAD v4
18g.23928252_23928256delCA656921321LAMA3c.3468+12_3468+16del (n.3468+12_3468+16del)
c.8295+12_8295+16del (n.8295+12_8295+16del)
c.4890+12_4890+16del (n.4890+12_4890+16del)
c.8127+12_8127+16del (n.8127+12_8127+16del)
c.3073+12_3073+16del
c.3300+12_3300+16del (n.3300+12_3300+16del)
n.2873+12_2873+16del
c.8322+12_8322+16del (n.8322+12_8322+16del)
c.8313+12_8313+16del (n.8313+12_8313+16del)
c.8304+12_8304+16del (n.8304+12_8304+16del)
c.8190+12_8190+16del (n.8190+12_8190+16del)
c.8025+12_8025+16del (n.8025+12_8025+16del)
c.6174+12_6174+16del (n.6174+12_6174+16del)
c.3864+12_3864+16del (n.3864+12_3864+16del)
n.8563+12_8563+16del
 COSMIC
18g.23928251G>CCA628685882LAMA3c.3468+11G>C (n.3468+11G>C)
c.8295+11G>C (n.8295+11G>C)
c.4890+11G>C (n.4890+11G>C)
c.8127+11G>C (n.8127+11G>C)
c.3073+11G>C
c.3300+11G>C (n.3300+11G>C)
n.2873+11G>C
c.8322+11G>C (n.8322+11G>C)
c.8313+11G>C (n.8313+11G>C)
c.8304+11G>C (n.8304+11G>C)
c.8190+11G>C (n.8190+11G>C)
c.8025+11G>C (n.8025+11G>C)
c.6174+11G>C (n.6174+11G>C)
c.3864+11G>C (n.3864+11G>C)
n.8563+11G>C
 dbSNP gnomAD v2 gnomAD v4
18g.23928251G=CA2290334648LAMA3c.3468+11G= (n.3468+11G=)
c.8295+11G= (n.8295+11G=)
c.4890+11G= (n.4890+11G=)
c.8127+11G= (n.8127+11G=)
c.3073+11G=
c.3300+11G= (n.3300+11G=)
n.2873+11G=
c.8322+11G= (n.8322+11G=)
c.8313+11G= (n.8313+11G=)
c.8304+11G= (n.8304+11G=)
c.8190+11G= (n.8190+11G=)
c.8025+11G= (n.8025+11G=)
c.6174+11G= (n.6174+11G=)
c.3864+11G= (n.3864+11G=)
n.8563+11G=
18g.23928254C>ACA2641297349LAMA3c.3468+14C>A (n.3468+14C>A)
c.8295+14C>A (n.8295+14C>A)
c.4890+14C>A (n.4890+14C>A)
c.8127+14C>A (n.8127+14C>A)
c.3073+14C>A
c.3300+14C>A (n.3300+14C>A)
n.2873+14C>A
c.8322+14C>A (n.8322+14C>A)
c.8313+14C>A (n.8313+14C>A)
c.8304+14C>A (n.8304+14C>A)
c.8190+14C>A (n.8190+14C>A)
c.8025+14C>A (n.8025+14C>A)
c.6174+14C>A (n.6174+14C>A)
c.3864+14C>A (n.3864+14C>A)
n.8563+14C>A
 gnomAD v4
18g.23928255A=CA2290334649LAMA3c.3468+15A= (n.3468+15A=)
c.8295+15A= (n.8295+15A=)
c.4890+15A= (n.4890+15A=)
c.8127+15A= (n.8127+15A=)
c.3073+15A=
c.3300+15A= (n.3300+15A=)
n.2873+15A=
c.8322+15A= (n.8322+15A=)
c.8313+15A= (n.8313+15A=)
c.8304+15A= (n.8304+15A=)
c.8190+15A= (n.8190+15A=)
c.8025+15A= (n.8025+15A=)
c.6174+15A= (n.6174+15A=)
c.3864+15A= (n.3864+15A=)
n.8563+15A=
18g.23928255A>GCA628685883LAMA3c.3468+15A>G (n.3468+15A>G)
c.8295+15A>G (n.8295+15A>G)
c.4890+15A>G (n.4890+15A>G)
c.8127+15A>G (n.8127+15A>G)
c.3073+15A>G
c.3300+15A>G (n.3300+15A>G)
n.2873+15A>G
c.8322+15A>G (n.8322+15A>G)
c.8313+15A>G (n.8313+15A>G)
c.8304+15A>G (n.8304+15A>G)
c.8190+15A>G (n.8190+15A>G)
c.8025+15A>G (n.8025+15A>G)
c.6174+15A>G (n.6174+15A>G)
c.3864+15A>G (n.3864+15A>G)
n.8563+15A>G
 dbSNP gnomAD v2 gnomAD v4
18g.23928256G>ACA2290334651LAMA3c.3468+16G>A (n.3468+16G>A)
c.8295+16G>A (n.8295+16G>A)
c.4890+16G>A (n.4890+16G>A)
c.8127+16G>A (n.8127+16G>A)
c.3073+16G>A
c.3300+16G>A (n.3300+16G>A)
n.2873+16G>A
c.8322+16G>A (n.8322+16G>A)
c.8313+16G>A (n.8313+16G>A)
c.8304+16G>A (n.8304+16G>A)
c.8190+16G>A (n.8190+16G>A)
c.8025+16G>A (n.8025+16G>A)
c.6174+16G>A (n.6174+16G>A)
c.3864+16G>A (n.3864+16G>A)
n.8563+16G>A
 dbSNP
18g.23928256G>CCA2576473054LAMA3c.3468+16G>C (n.3468+16G>C)
c.8295+16G>C (n.8295+16G>C)
c.4890+16G>C (n.4890+16G>C)
c.8127+16G>C (n.8127+16G>C)
c.3073+16G>C
c.3300+16G>C (n.3300+16G>C)
n.2873+16G>C
c.8322+16G>C (n.8322+16G>C)
c.8313+16G>C (n.8313+16G>C)
c.8304+16G>C (n.8304+16G>C)
c.8190+16G>C (n.8190+16G>C)
c.8025+16G>C (n.8025+16G>C)
c.6174+16G>C (n.6174+16G>C)
c.3864+16G>C (n.3864+16G>C)
n.8563+16G>C
18g.23928256G=CA2290334650LAMA3c.3468+16G= (n.3468+16G=)
c.8295+16G= (n.8295+16G=)
c.4890+16G= (n.4890+16G=)
c.8127+16G= (n.8127+16G=)
c.3073+16G=
c.3300+16G= (n.3300+16G=)
n.2873+16G=
c.8322+16G= (n.8322+16G=)
c.8313+16G= (n.8313+16G=)
c.8304+16G= (n.8304+16G=)
c.8190+16G= (n.8190+16G=)
c.8025+16G= (n.8025+16G=)
c.6174+16G= (n.6174+16G=)
c.3864+16G= (n.3864+16G=)
n.8563+16G=
18g.23928256G>TCA2641297351LAMA3c.3468+16G>T (n.3468+16G>T)
c.8295+16G>T (n.8295+16G>T)
c.4890+16G>T (n.4890+16G>T)
c.8127+16G>T (n.8127+16G>T)
c.3073+16G>T
c.3300+16G>T (n.3300+16G>T)
n.2873+16G>T
c.8322+16G>T (n.8322+16G>T)
c.8313+16G>T (n.8313+16G>T)
c.8304+16G>T (n.8304+16G>T)
c.8190+16G>T (n.8190+16G>T)
c.8025+16G>T (n.8025+16G>T)
c.6174+16G>T (n.6174+16G>T)
c.3864+16G>T (n.3864+16G>T)
n.8563+16G>T
 gnomAD v4
18g.23928258A=CA2290334652LAMA3c.3468+18A= (n.3468+18A=)
c.8295+18A= (n.8295+18A=)
c.4890+18A= (n.4890+18A=)
c.8127+18A= (n.8127+18A=)
c.3073+18A=
c.3300+18A= (n.3300+18A=)
n.2873+18A=
c.8322+18A= (n.8322+18A=)
c.8313+18A= (n.8313+18A=)
c.8304+18A= (n.8304+18A=)
c.8190+18A= (n.8190+18A=)
c.8025+18A= (n.8025+18A=)
c.6174+18A= (n.6174+18A=)
c.3864+18A= (n.3864+18A=)
n.8563+18A=
18g.23928258A>CCA2290334653LAMA3c.3468+18A>C (n.3468+18A>C)
c.8295+18A>C (n.8295+18A>C)
c.4890+18A>C (n.4890+18A>C)
c.8127+18A>C (n.8127+18A>C)
c.3073+18A>C
c.3300+18A>C (n.3300+18A>C)
n.2873+18A>C
c.8322+18A>C (n.8322+18A>C)
c.8313+18A>C (n.8313+18A>C)
c.8304+18A>C (n.8304+18A>C)
c.8190+18A>C (n.8190+18A>C)
c.8025+18A>C (n.8025+18A>C)
c.6174+18A>C (n.6174+18A>C)
c.3864+18A>C (n.3864+18A>C)
n.8563+18A>C
 dbSNP
18g.23928259C>ACA2576473055LAMA3c.3468+19C>A (n.3468+19C>A)
c.8295+19C>A (n.8295+19C>A)
c.4890+19C>A (n.4890+19C>A)
c.8127+19C>A (n.8127+19C>A)
c.3073+19C>A
c.3300+19C>A (n.3300+19C>A)
n.2873+19C>A
c.8322+19C>A (n.8322+19C>A)
c.8313+19C>A (n.8313+19C>A)
c.8304+19C>A (n.8304+19C>A)
c.8190+19C>A (n.8190+19C>A)
c.8025+19C>A (n.8025+19C>A)
c.6174+19C>A (n.6174+19C>A)
c.3864+19C>A (n.3864+19C>A)
n.8563+19C>A
 gnomAD v4
18g.23928259C=CA2290334654LAMA3c.3468+19C= (n.3468+19C=)
c.8295+19C= (n.8295+19C=)
c.4890+19C= (n.4890+19C=)
c.8127+19C= (n.8127+19C=)
c.3073+19C=
c.3300+19C= (n.3300+19C=)
n.2873+19C=
c.8322+19C= (n.8322+19C=)
c.8313+19C= (n.8313+19C=)
c.8304+19C= (n.8304+19C=)
c.8190+19C= (n.8190+19C=)
c.8025+19C= (n.8025+19C=)
c.6174+19C= (n.6174+19C=)
c.3864+19C= (n.3864+19C=)
n.8563+19C=
18g.23928259C>GCA297122434LAMA3c.3468+19C>G (n.3468+19C>G)
c.8295+19C>G (n.8295+19C>G)
c.4890+19C>G (n.4890+19C>G)
c.8127+19C>G (n.8127+19C>G)
c.3073+19C>G
c.3300+19C>G (n.3300+19C>G)
n.2873+19C>G
c.8322+19C>G (n.8322+19C>G)
c.8313+19C>G (n.8313+19C>G)
c.8304+19C>G (n.8304+19C>G)
c.8190+19C>G (n.8190+19C>G)
c.8025+19C>G (n.8025+19C>G)
c.6174+19C>G (n.6174+19C>G)
c.3864+19C>G (n.3864+19C>G)
n.8563+19C>G
 dbSNP gnomAD v3 gnomAD v4
18g.23928260C>ACA2576473056LAMA3c.3468+20C>A (n.3468+20C>A)
c.8295+20C>A (n.8295+20C>A)
c.4890+20C>A (n.4890+20C>A)
c.8127+20C>A (n.8127+20C>A)
c.3073+20C>A
c.3300+20C>A (n.3300+20C>A)
n.2873+20C>A
c.8322+20C>A (n.8322+20C>A)
c.8313+20C>A (n.8313+20C>A)
c.8304+20C>A (n.8304+20C>A)
c.8190+20C>A (n.8190+20C>A)
c.8025+20C>A (n.8025+20C>A)
c.6174+20C>A (n.6174+20C>A)
c.3864+20C>A (n.3864+20C>A)
n.8563+20C>A
18g.23928260C=CA2290334655LAMA3c.3468+20C= (n.3468+20C=)
c.8295+20C= (n.8295+20C=)
c.4890+20C= (n.4890+20C=)
c.8127+20C= (n.8127+20C=)
c.3073+20C=
c.3300+20C= (n.3300+20C=)
n.2873+20C=
c.8322+20C= (n.8322+20C=)
c.8313+20C= (n.8313+20C=)
c.8304+20C= (n.8304+20C=)
c.8190+20C= (n.8190+20C=)
c.8025+20C= (n.8025+20C=)
c.6174+20C= (n.6174+20C=)
c.3864+20C= (n.3864+20C=)
n.8563+20C=
18g.23928260C>TCA2290334656LAMA3c.3468+20C>T (n.3468+20C>T)
c.8295+20C>T (n.8295+20C>T)
c.4890+20C>T (n.4890+20C>T)
c.8127+20C>T (n.8127+20C>T)
c.3073+20C>T
c.3300+20C>T (n.3300+20C>T)
n.2873+20C>T
c.8322+20C>T (n.8322+20C>T)
c.8313+20C>T (n.8313+20C>T)
c.8304+20C>T (n.8304+20C>T)
c.8190+20C>T (n.8190+20C>T)
c.8025+20C>T (n.8025+20C>T)
c.6174+20C>T (n.6174+20C>T)
c.3864+20C>T (n.3864+20C>T)
n.8563+20C>T
 dbSNP
18g.23928261T>ACA2576473057LAMA3c.3468+21T>A (n.3468+21T>A)
c.8295+21T>A (n.8295+21T>A)
c.4890+21T>A (n.4890+21T>A)
c.8127+21T>A (n.8127+21T>A)
c.3073+21T>A
c.3300+21T>A (n.3300+21T>A)
n.2873+21T>A
c.8322+21T>A (n.8322+21T>A)
c.8313+21T>A (n.8313+21T>A)
c.8304+21T>A (n.8304+21T>A)
c.8190+21T>A (n.8190+21T>A)
c.8025+21T>A (n.8025+21T>A)
c.6174+21T>A (n.6174+21T>A)
c.3864+21T>A (n.3864+21T>A)
n.8563+21T>A
18g.23928262C>ACA2576473058LAMA3c.3468+22C>A (n.3468+22C>A)
c.8295+22C>A (n.8295+22C>A)
c.4890+22C>A (n.4890+22C>A)
c.8127+22C>A (n.8127+22C>A)
c.3073+22C>A
c.3300+22C>A (n.3300+22C>A)
n.2873+22C>A
c.8322+22C>A (n.8322+22C>A)
c.8313+22C>A (n.8313+22C>A)
c.8304+22C>A (n.8304+22C>A)
c.8190+22C>A (n.8190+22C>A)
c.8025+22C>A (n.8025+22C>A)
c.6174+22C>A (n.6174+22C>A)
c.3864+22C>A (n.3864+22C>A)
n.8563+22C>A
18g.23928262C=CA2290334657LAMA3c.3468+22C= (n.3468+22C=)
c.8295+22C= (n.8295+22C=)
c.4890+22C= (n.4890+22C=)
c.8127+22C= (n.8127+22C=)
c.3073+22C=
c.3300+22C= (n.3300+22C=)
n.2873+22C=
c.8322+22C= (n.8322+22C=)
c.8313+22C= (n.8313+22C=)
c.8304+22C= (n.8304+22C=)
c.8190+22C= (n.8190+22C=)
c.8025+22C= (n.8025+22C=)
c.6174+22C= (n.6174+22C=)
c.3864+22C= (n.3864+22C=)
n.8563+22C=
18g.23928262C>GCA2641297356LAMA3c.3468+22C>G (n.3468+22C>G)
c.8295+22C>G (n.8295+22C>G)
c.4890+22C>G (n.4890+22C>G)
c.8127+22C>G (n.8127+22C>G)
c.3073+22C>G
c.3300+22C>G (n.3300+22C>G)
n.2873+22C>G
c.8322+22C>G (n.8322+22C>G)
c.8313+22C>G (n.8313+22C>G)
c.8304+22C>G (n.8304+22C>G)
c.8190+22C>G (n.8190+22C>G)
c.8025+22C>G (n.8025+22C>G)
c.6174+22C>G (n.6174+22C>G)
c.3864+22C>G (n.3864+22C>G)
n.8563+22C>G
 gnomAD v4
18g.23928262C>TCA8916885LAMA3c.3468+22C>T (n.3468+22C>T)
c.8295+22C>T (n.8295+22C>T)
c.4890+22C>T (n.4890+22C>T)
c.8127+22C>T (n.8127+22C>T)
c.3073+22C>T
c.3300+22C>T (n.3300+22C>T)
n.2873+22C>T
c.8322+22C>T (n.8322+22C>T)
c.8313+22C>T (n.8313+22C>T)
c.8304+22C>T (n.8304+22C>T)
c.8190+22C>T (n.8190+22C>T)
c.8025+22C>T (n.8025+22C>T)
c.6174+22C>T (n.6174+22C>T)
c.3864+22C>T (n.3864+22C>T)
n.8563+22C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928263G>ACA297122468LAMA3c.3468+23G>A (n.3468+23G>A)
c.8295+23G>A (n.8295+23G>A)
c.4890+23G>A (n.4890+23G>A)
c.8127+23G>A (n.8127+23G>A)
c.3073+23G>A
c.3300+23G>A (n.3300+23G>A)
n.2873+23G>A
c.8322+23G>A (n.8322+23G>A)
c.8313+23G>A (n.8313+23G>A)
c.8304+23G>A (n.8304+23G>A)
c.8190+23G>A (n.8190+23G>A)
c.8025+23G>A (n.8025+23G>A)
c.6174+23G>A (n.6174+23G>A)
c.3864+23G>A (n.3864+23G>A)
n.8563+23G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23928263G=CA2290334658LAMA3c.3468+23G= (n.3468+23G=)
c.8295+23G= (n.8295+23G=)
c.4890+23G= (n.4890+23G=)
c.8127+23G= (n.8127+23G=)
c.3073+23G=
c.3300+23G= (n.3300+23G=)
n.2873+23G=
c.8322+23G= (n.8322+23G=)
c.8313+23G= (n.8313+23G=)
c.8304+23G= (n.8304+23G=)
c.8190+23G= (n.8190+23G=)
c.8025+23G= (n.8025+23G=)
c.6174+23G= (n.6174+23G=)
c.3864+23G= (n.3864+23G=)
n.8563+23G=
18g.23928263G>TCA2290334659LAMA3c.3468+23G>T (n.3468+23G>T)
c.8295+23G>T (n.8295+23G>T)
c.4890+23G>T (n.4890+23G>T)
c.8127+23G>T (n.8127+23G>T)
c.3073+23G>T
c.3300+23G>T (n.3300+23G>T)
n.2873+23G>T
c.8322+23G>T (n.8322+23G>T)
c.8313+23G>T (n.8313+23G>T)
c.8304+23G>T (n.8304+23G>T)
c.8190+23G>T (n.8190+23G>T)
c.8025+23G>T (n.8025+23G>T)
c.6174+23G>T (n.6174+23G>T)
c.3864+23G>T (n.3864+23G>T)
n.8563+23G>T
 dbSNP
18g.23928265G>ACA2641297358LAMA3c.3468+25G>A (n.3468+25G>A)
c.8295+25G>A (n.8295+25G>A)
c.4890+25G>A (n.4890+25G>A)
c.8127+25G>A (n.8127+25G>A)
c.3073+25G>A
c.3300+25G>A (n.3300+25G>A)
n.2873+25G>A
c.8322+25G>A (n.8322+25G>A)
c.8313+25G>A (n.8313+25G>A)
c.8304+25G>A (n.8304+25G>A)
c.8190+25G>A (n.8190+25G>A)
c.8025+25G>A (n.8025+25G>A)
c.6174+25G>A (n.6174+25G>A)
c.3864+25G>A (n.3864+25G>A)
n.8563+25G>A
 gnomAD v4
18g.23928267A>CCA2641297359LAMA3c.3468+27A>C (n.3468+27A>C)
c.8295+27A>C (n.8295+27A>C)
c.4890+27A>C (n.4890+27A>C)
c.8127+27A>C (n.8127+27A>C)
c.3073+27A>C
c.3300+27A>C (n.3300+27A>C)
n.2873+27A>C
c.8322+27A>C (n.8322+27A>C)
c.8313+27A>C (n.8313+27A>C)
c.8304+27A>C (n.8304+27A>C)
c.8190+27A>C (n.8190+27A>C)
c.8025+27A>C (n.8025+27A>C)
c.6174+27A>C (n.6174+27A>C)
c.3864+27A>C (n.3864+27A>C)
n.8563+27A>C
 gnomAD v4
18g.23928268G>CCA8916886LAMA3c.3468+28G>C (n.3468+28G>C)
c.8295+28G>C (n.8295+28G>C)
c.4890+28G>C (n.4890+28G>C)
c.8127+28G>C (n.8127+28G>C)
c.3073+28G>C
c.3300+28G>C (n.3300+28G>C)
n.2873+28G>C
c.8322+28G>C (n.8322+28G>C)
c.8313+28G>C (n.8313+28G>C)
c.8304+28G>C (n.8304+28G>C)
c.8190+28G>C (n.8190+28G>C)
c.8025+28G>C (n.8025+28G>C)
c.6174+28G>C (n.6174+28G>C)
c.3864+28G>C (n.3864+28G>C)
n.8563+28G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928268G=CA2290334660LAMA3c.3468+28G= (n.3468+28G=)
c.8295+28G= (n.8295+28G=)
c.4890+28G= (n.4890+28G=)
c.8127+28G= (n.8127+28G=)
c.3073+28G=
c.3300+28G= (n.3300+28G=)
n.2873+28G=
c.8322+28G= (n.8322+28G=)
c.8313+28G= (n.8313+28G=)
c.8304+28G= (n.8304+28G=)
c.8190+28G= (n.8190+28G=)
c.8025+28G= (n.8025+28G=)
c.6174+28G= (n.6174+28G=)
c.3864+28G= (n.3864+28G=)
n.8563+28G=
18g.23928268G>TCA2290334661LAMA3c.3468+28G>T (n.3468+28G>T)
c.8295+28G>T (n.8295+28G>T)
c.4890+28G>T (n.4890+28G>T)
c.8127+28G>T (n.8127+28G>T)
c.3073+28G>T
c.3300+28G>T (n.3300+28G>T)
n.2873+28G>T
c.8322+28G>T (n.8322+28G>T)
c.8313+28G>T (n.8313+28G>T)
c.8304+28G>T (n.8304+28G>T)
c.8190+28G>T (n.8190+28G>T)
c.8025+28G>T (n.8025+28G>T)
c.6174+28G>T (n.6174+28G>T)
c.3864+28G>T (n.3864+28G>T)
n.8563+28G>T
 dbSNP
18g.23928269G>ACA8916887LAMA3c.3468+29G>A (n.3468+29G>A)
c.8295+29G>A (n.8295+29G>A)
c.4890+29G>A (n.4890+29G>A)
c.8127+29G>A (n.8127+29G>A)
c.3073+29G>A
c.3300+29G>A (n.3300+29G>A)
n.2873+29G>A
c.8322+29G>A (n.8322+29G>A)
c.8313+29G>A (n.8313+29G>A)
c.8304+29G>A (n.8304+29G>A)
c.8190+29G>A (n.8190+29G>A)
c.8025+29G>A (n.8025+29G>A)
c.6174+29G>A (n.6174+29G>A)
c.3864+29G>A (n.3864+29G>A)
n.8563+29G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928269G>CCA2576473059LAMA3c.3468+29G>C (n.3468+29G>C)
c.8295+29G>C (n.8295+29G>C)
c.4890+29G>C (n.4890+29G>C)
c.8127+29G>C (n.8127+29G>C)
c.3073+29G>C
c.3300+29G>C (n.3300+29G>C)
n.2873+29G>C
c.8322+29G>C (n.8322+29G>C)
c.8313+29G>C (n.8313+29G>C)
c.8304+29G>C (n.8304+29G>C)
c.8190+29G>C (n.8190+29G>C)
c.8025+29G>C (n.8025+29G>C)
c.6174+29G>C (n.6174+29G>C)
c.3864+29G>C (n.3864+29G>C)
n.8563+29G>C
18g.23928269G=CA2290334662LAMA3c.3468+29G= (n.3468+29G=)
c.8295+29G= (n.8295+29G=)
c.4890+29G= (n.4890+29G=)
c.8127+29G= (n.8127+29G=)
c.3073+29G=
c.3300+29G= (n.3300+29G=)
n.2873+29G=
c.8322+29G= (n.8322+29G=)
c.8313+29G= (n.8313+29G=)
c.8304+29G= (n.8304+29G=)
c.8190+29G= (n.8190+29G=)
c.8025+29G= (n.8025+29G=)
c.6174+29G= (n.6174+29G=)
c.3864+29G= (n.3864+29G=)
n.8563+29G=
18g.23928269G>TCA2641297360LAMA3c.3468+29G>T (n.3468+29G>T)
c.8295+29G>T (n.8295+29G>T)
c.4890+29G>T (n.4890+29G>T)
c.8127+29G>T (n.8127+29G>T)
c.3073+29G>T
c.3300+29G>T (n.3300+29G>T)
n.2873+29G>T
c.8322+29G>T (n.8322+29G>T)
c.8313+29G>T (n.8313+29G>T)
c.8304+29G>T (n.8304+29G>T)
c.8190+29G>T (n.8190+29G>T)
c.8025+29G>T (n.8025+29G>T)
c.6174+29G>T (n.6174+29G>T)
c.3864+29G>T (n.3864+29G>T)
n.8563+29G>T
 gnomAD v4

Number of alleles fetched