Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23915385T>ACA402059305LAMA3c.2914T>A (p.Phe972Ile)
c.7741T>A (p.Phe2581Ile)
c.4336T>A (p.Phe1446Ile)
c.7573T>A (p.Phe2525Ile)
c.2519T>A
c.2746T>A (p.Phe916Ile)
n.2319T>A
c.7768T>A (p.Phe2590Ile)
c.7759T>A (p.Phe2587Ile)
c.7750T>A (p.Phe2584Ile)
c.7636T>A (p.Phe2546Ile)
c.7471T>A (p.Phe2491Ile)
c.5620T>A (p.Phe1874Ile)
c.3310T>A (p.Phe1104Ile)
n.8009T>A
18g.23915385T>CCA402059306LAMA3c.2914T>C (p.Phe972Leu)
c.7741T>C (p.Phe2581Leu)
c.4336T>C (p.Phe1446Leu)
c.7573T>C (p.Phe2525Leu)
c.2519T>C
c.2746T>C (p.Phe916Leu)
n.2319T>C
c.7768T>C (p.Phe2590Leu)
c.7759T>C (p.Phe2587Leu)
c.7750T>C (p.Phe2584Leu)
c.7636T>C (p.Phe2546Leu)
c.7471T>C (p.Phe2491Leu)
c.5620T>C (p.Phe1874Leu)
c.3310T>C (p.Phe1104Leu)
n.8009T>C
18g.23915385T>GCA402059307LAMA3c.2914T>G (p.Phe972Val)
c.7741T>G (p.Phe2581Val)
c.4336T>G (p.Phe1446Val)
c.7573T>G (p.Phe2525Val)
c.2519T>G
c.2746T>G (p.Phe916Val)
n.2319T>G
c.7768T>G (p.Phe2590Val)
c.7759T>G (p.Phe2587Val)
c.7750T>G (p.Phe2584Val)
c.7636T>G (p.Phe2546Val)
c.7471T>G (p.Phe2491Val)
c.5620T>G (p.Phe1874Val)
c.3310T>G (p.Phe1104Val)
n.8009T>G
 dbSNP
18g.23915385_23915386delCA2811822938LAMA3c.2914_2915del (p.Phe972GlnfsTer6)
c.7741_7742del (p.Phe2581GlnfsTer6)
c.4336_4337del (p.Phe1446GlnfsTer6)
c.7573_7574del (p.Phe2525GlnfsTer6)
c.2519_2520del
c.2746_2747del (p.Phe916GlnfsTer6)
n.2319_2320del
c.7768_7769del (p.Phe2590GlnfsTer6)
c.7759_7760del (p.Phe2587GlnfsTer6)
c.7750_7751del (p.Phe2584GlnfsTer6)
c.7636_7637del (p.Phe2546GlnfsTer6)
c.7471_7472del (p.Phe2491GlnfsTer6)
c.5620_5621del (p.Phe1874GlnfsTer6)
c.3310_3311del (p.Phe1104GlnfsTer6)
n.8009_8010del
18g.23915386T>ACA402059308LAMA3c.2915T>A (p.Phe972Tyr)
c.7742T>A (p.Phe2581Tyr)
c.4337T>A (p.Phe1446Tyr)
c.7574T>A (p.Phe2525Tyr)
c.2520T>A
c.2747T>A (p.Phe916Tyr)
n.2320T>A
c.7769T>A (p.Phe2590Tyr)
c.7760T>A (p.Phe2587Tyr)
c.7751T>A (p.Phe2584Tyr)
c.7637T>A (p.Phe2546Tyr)
c.7472T>A (p.Phe2491Tyr)
c.5621T>A (p.Phe1874Tyr)
c.3311T>A (p.Phe1104Tyr)
n.8010T>A
18g.23915386T>CCA402059309LAMA3c.2915T>C (p.Phe972Ser)
c.7742T>C (p.Phe2581Ser)
c.4337T>C (p.Phe1446Ser)
c.7574T>C (p.Phe2525Ser)
c.2520T>C
c.2747T>C (p.Phe916Ser)
n.2320T>C
c.7769T>C (p.Phe2590Ser)
c.7760T>C (p.Phe2587Ser)
c.7751T>C (p.Phe2584Ser)
c.7637T>C (p.Phe2546Ser)
c.7472T>C (p.Phe2491Ser)
c.5621T>C (p.Phe1874Ser)
c.3311T>C (p.Phe1104Ser)
n.8010T>C
 gnomAD v4
18g.23915386T>GCA402059310LAMA3c.2915T>G (p.Phe972Cys)
c.7742T>G (p.Phe2581Cys)
c.4337T>G (p.Phe1446Cys)
c.7574T>G (p.Phe2525Cys)
c.2520T>G
c.2747T>G (p.Phe916Cys)
n.2320T>G
c.7769T>G (p.Phe2590Cys)
c.7760T>G (p.Phe2587Cys)
c.7751T>G (p.Phe2584Cys)
c.7637T>G (p.Phe2546Cys)
c.7472T>G (p.Phe2491Cys)
c.5621T>G (p.Phe1874Cys)
c.3311T>G (p.Phe1104Cys)
n.8010T>G
18g.23915387C>ACA402059311LAMA3c.2916C>A (p.Phe972Leu)
c.7743C>A (p.Phe2581Leu)
c.4338C>A (p.Phe1446Leu)
c.7575C>A (p.Phe2525Leu)
c.2521C>A
c.2748C>A (p.Phe916Leu)
n.2321C>A
c.7770C>A (p.Phe2590Leu)
c.7761C>A (p.Phe2587Leu)
c.7752C>A (p.Phe2584Leu)
c.7638C>A (p.Phe2546Leu)
c.7473C>A (p.Phe2491Leu)
c.5622C>A (p.Phe1874Leu)
c.3312C>A (p.Phe1104Leu)
n.8011C>A
18g.23915387C>GCA402059312LAMA3c.2916C>G (p.Phe972Leu)
c.7743C>G (p.Phe2581Leu)
c.4338C>G (p.Phe1446Leu)
c.7575C>G (p.Phe2525Leu)
c.2521C>G
c.2748C>G (p.Phe916Leu)
n.2321C>G
c.7770C>G (p.Phe2590Leu)
c.7761C>G (p.Phe2587Leu)
c.7752C>G (p.Phe2584Leu)
c.7638C>G (p.Phe2546Leu)
c.7473C>G (p.Phe2491Leu)
c.5622C>G (p.Phe1874Leu)
c.3312C>G (p.Phe1104Leu)
n.8011C>G
 COSMIC COSMIC
18g.23915387C>TCA503339700LAMA3c.2916C>T (p.Phe972=)
c.7743C>T (p.Phe2581=)
c.4338C>T (p.Phe1446=)
c.7575C>T (p.Phe2525=)
c.2521C>T
c.2748C>T (p.Phe916=)
n.2321C>T
c.7770C>T (p.Phe2590=)
c.7761C>T (p.Phe2587=)
c.7752C>T (p.Phe2584=)
c.7638C>T (p.Phe2546=)
c.7473C>T (p.Phe2491=)
c.5622C>T (p.Phe1874=)
c.3312C>T (p.Phe1104=)
n.8011C>T
 gnomAD v4
18g.23915388A=CA2290328989LAMA3c.2917A= (p.Asn973=)
c.7744A= (p.Asn2582=)
c.4339A= (p.Asn1447=)
c.7576A= (p.Asn2526=)
c.2522A=
c.2749A= (p.Asn917=)
n.2322A=
c.7771A= (p.Asn2591=)
c.7762A= (p.Asn2588=)
c.7753A= (p.Asn2585=)
c.7639A= (p.Asn2547=)
c.7474A= (p.Asn2492=)
c.5623A= (p.Asn1875=)
c.3313A= (p.Asn1105=)
n.8012A=
18g.23915388A>CCA402059313LAMA3c.2917A>C (p.Asn973His)
c.7744A>C (p.Asn2582His)
c.4339A>C (p.Asn1447His)
c.7576A>C (p.Asn2526His)
c.2522A>C
c.2749A>C (p.Asn917His)
n.2322A>C
c.7771A>C (p.Asn2591His)
c.7762A>C (p.Asn2588His)
c.7753A>C (p.Asn2585His)
c.7639A>C (p.Asn2547His)
c.7474A>C (p.Asn2492His)
c.5623A>C (p.Asn1875His)
c.3313A>C (p.Asn1105His)
n.8012A>C
18g.23915388A>GCA402059314LAMA3c.2917A>G (p.Asn973Asp)
c.7744A>G (p.Asn2582Asp)
c.4339A>G (p.Asn1447Asp)
c.7576A>G (p.Asn2526Asp)
c.2522A>G
c.2749A>G (p.Asn917Asp)
n.2322A>G
c.7771A>G (p.Asn2591Asp)
c.7762A>G (p.Asn2588Asp)
c.7753A>G (p.Asn2585Asp)
c.7639A>G (p.Asn2547Asp)
c.7474A>G (p.Asn2492Asp)
c.5623A>G (p.Asn1875Asp)
c.3313A>G (p.Asn1105Asp)
n.8012A>G
 dbSNP gnomAD v4
18g.23915388A>TCA402059315LAMA3c.2917A>T (p.Asn973Tyr)
c.7744A>T (p.Asn2582Tyr)
c.4339A>T (p.Asn1447Tyr)
c.7576A>T (p.Asn2526Tyr)
c.2522A>T
c.2749A>T (p.Asn917Tyr)
n.2322A>T
c.7771A>T (p.Asn2591Tyr)
c.7762A>T (p.Asn2588Tyr)
c.7753A>T (p.Asn2585Tyr)
c.7639A>T (p.Asn2547Tyr)
c.7474A>T (p.Asn2492Tyr)
c.5623A>T (p.Asn1875Tyr)
c.3313A>T (p.Asn1105Tyr)
n.8012A>T
18g.23915389A=CA2290328991LAMA3c.2918A= (p.Asn973=)
c.7745A= (p.Asn2582=)
c.4340A= (p.Asn1447=)
c.7577A= (p.Asn2526=)
c.2523A=
c.2750A= (p.Asn917=)
n.2323A=
c.7772A= (p.Asn2591=)
c.7763A= (p.Asn2588=)
c.7754A= (p.Asn2585=)
c.7640A= (p.Asn2547=)
c.7475A= (p.Asn2492=)
c.5624A= (p.Asn1875=)
c.3314A= (p.Asn1105=)
n.8013A=
18g.23915389A>CCA402059317LAMA3c.2918A>C (p.Asn973Thr)
c.7745A>C (p.Asn2582Thr)
c.4340A>C (p.Asn1447Thr)
c.7577A>C (p.Asn2526Thr)
c.2523A>C
c.2750A>C (p.Asn917Thr)
n.2323A>C
c.7772A>C (p.Asn2591Thr)
c.7763A>C (p.Asn2588Thr)
c.7754A>C (p.Asn2585Thr)
c.7640A>C (p.Asn2547Thr)
c.7475A>C (p.Asn2492Thr)
c.5624A>C (p.Asn1875Thr)
c.3314A>C (p.Asn1105Thr)
n.8013A>C
18g.23915389A>GCA8916736LAMA3c.2918A>G (p.Asn973Ser)
c.7745A>G (p.Asn2582Ser)
c.4340A>G (p.Asn1447Ser)
c.7577A>G (p.Asn2526Ser)
c.2523A>G
c.2750A>G (p.Asn917Ser)
n.2323A>G
c.7772A>G (p.Asn2591Ser)
c.7763A>G (p.Asn2588Ser)
c.7754A>G (p.Asn2585Ser)
c.7640A>G (p.Asn2547Ser)
c.7475A>G (p.Asn2492Ser)
c.5624A>G (p.Asn1875Ser)
c.3314A>G (p.Asn1105Ser)
n.8013A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23915389A>TCA402059316LAMA3c.2918A>T (p.Asn973Ile)
c.7745A>T (p.Asn2582Ile)
c.4340A>T (p.Asn1447Ile)
c.7577A>T (p.Asn2526Ile)
c.2523A>T
c.2750A>T (p.Asn917Ile)
n.2323A>T
c.7772A>T (p.Asn2591Ile)
c.7763A>T (p.Asn2588Ile)
c.7754A>T (p.Asn2585Ile)
c.7640A>T (p.Asn2547Ile)
c.7475A>T (p.Asn2492Ile)
c.5624A>T (p.Asn1875Ile)
c.3314A>T (p.Asn1105Ile)
n.8013A>T
18g.23915389_23915390delCA2811822939LAMA3c.2918_2919del (p.Asn973ThrfsTer5)
c.7745_7746del (p.Asn2582ThrfsTer5)
c.4340_4341del (p.Asn1447ThrfsTer5)
c.7577_7578del (p.Asn2526ThrfsTer5)
c.2523_2524del
c.2750_2751del (p.Asn917ThrfsTer5)
n.2323_2324del
c.7772_7773del (p.Asn2591ThrfsTer5)
c.7763_7764del (p.Asn2588ThrfsTer5)
c.7754_7755del (p.Asn2585ThrfsTer5)
c.7640_7641del (p.Asn2547ThrfsTer5)
c.7475_7476del (p.Asn2492ThrfsTer5)
c.5624_5625del (p.Asn1875ThrfsTer5)
c.3314_3315del (p.Asn1105ThrfsTer5)
n.8013_8014del
18g.23915390T>ACA402059319LAMA3c.2919T>A (p.Asn973Lys)
c.7746T>A (p.Asn2582Lys)
c.4341T>A (p.Asn1447Lys)
c.7578T>A (p.Asn2526Lys)
c.2524T>A
c.2751T>A (p.Asn917Lys)
n.2324T>A
c.7773T>A (p.Asn2591Lys)
c.7764T>A (p.Asn2588Lys)
c.7755T>A (p.Asn2585Lys)
c.7641T>A (p.Asn2547Lys)
c.7476T>A (p.Asn2492Lys)
c.5625T>A (p.Asn1875Lys)
c.3315T>A (p.Asn1105Lys)
n.8014T>A
18g.23915390T>CCA503339702LAMA3c.2919T>C (p.Asn973=)
c.7746T>C (p.Asn2582=)
c.4341T>C (p.Asn1447=)
c.7578T>C (p.Asn2526=)
c.2524T>C
c.2751T>C (p.Asn917=)
n.2324T>C
c.7773T>C (p.Asn2591=)
c.7764T>C (p.Asn2588=)
c.7755T>C (p.Asn2585=)
c.7641T>C (p.Asn2547=)
c.7476T>C (p.Asn2492=)
c.5625T>C (p.Asn1875=)
c.3315T>C (p.Asn1105=)
n.8014T>C
18g.23915390T>GCA402059318LAMA3c.2919T>G (p.Asn973Lys)
c.7746T>G (p.Asn2582Lys)
c.4341T>G (p.Asn1447Lys)
c.7578T>G (p.Asn2526Lys)
c.2524T>G
c.2751T>G (p.Asn917Lys)
n.2324T>G
c.7773T>G (p.Asn2591Lys)
c.7764T>G (p.Asn2588Lys)
c.7755T>G (p.Asn2585Lys)
c.7641T>G (p.Asn2547Lys)
c.7476T>G (p.Asn2492Lys)
c.5625T>G (p.Asn1875Lys)
c.3315T>G (p.Asn1105Lys)
n.8014T>G
18g.23915391C>ACA402059321LAMA3c.2920C>A (p.Leu974Ile)
c.7747C>A (p.Leu2583Ile)
c.4342C>A (p.Leu1448Ile)
c.7579C>A (p.Leu2527Ile)
c.2525C>A
c.2752C>A (p.Leu918Ile)
n.2325C>A
c.7774C>A (p.Leu2592Ile)
c.7765C>A (p.Leu2589Ile)
c.7756C>A (p.Leu2586Ile)
c.7642C>A (p.Leu2548Ile)
c.7477C>A (p.Leu2493Ile)
c.5626C>A (p.Leu1876Ile)
c.3316C>A (p.Leu1106Ile)
n.8015C>A
18g.23915391C>GCA402059320LAMA3c.2920C>G (p.Leu974Val)
c.7747C>G (p.Leu2583Val)
c.4342C>G (p.Leu1448Val)
c.7579C>G (p.Leu2527Val)
c.2525C>G
c.2752C>G (p.Leu918Val)
n.2325C>G
c.7774C>G (p.Leu2592Val)
c.7765C>G (p.Leu2589Val)
c.7756C>G (p.Leu2586Val)
c.7642C>G (p.Leu2548Val)
c.7477C>G (p.Leu2493Val)
c.5626C>G (p.Leu1876Val)
c.3316C>G (p.Leu1106Val)
n.8015C>G
18g.23915391C>TCA402059322LAMA3c.2920C>T (p.Leu974Phe)
c.7747C>T (p.Leu2583Phe)
c.4342C>T (p.Leu1448Phe)
c.7579C>T (p.Leu2527Phe)
c.2525C>T
c.2752C>T (p.Leu918Phe)
n.2325C>T
c.7774C>T (p.Leu2592Phe)
c.7765C>T (p.Leu2589Phe)
c.7756C>T (p.Leu2586Phe)
c.7642C>T (p.Leu2548Phe)
c.7477C>T (p.Leu2493Phe)
c.5626C>T (p.Leu1876Phe)
c.3316C>T (p.Leu1106Phe)
n.8015C>T
18g.23915392T>ACA402059323LAMA3c.2921T>A (p.Leu974His)
c.7748T>A (p.Leu2583His)
c.4343T>A (p.Leu1448His)
c.7580T>A (p.Leu2527His)
c.2526T>A
c.2753T>A (p.Leu918His)
n.2326T>A
c.7775T>A (p.Leu2592His)
c.7766T>A (p.Leu2589His)
c.7757T>A (p.Leu2586His)
c.7643T>A (p.Leu2548His)
c.7478T>A (p.Leu2493His)
c.5627T>A (p.Leu1876His)
c.3317T>A (p.Leu1106His)
n.8016T>A
18g.23915392T>CCA402059325LAMA3c.2921T>C (p.Leu974Pro)
c.7748T>C (p.Leu2583Pro)
c.4343T>C (p.Leu1448Pro)
c.7580T>C (p.Leu2527Pro)
c.2526T>C
c.2753T>C (p.Leu918Pro)
n.2326T>C
c.7775T>C (p.Leu2592Pro)
c.7766T>C (p.Leu2589Pro)
c.7757T>C (p.Leu2586Pro)
c.7643T>C (p.Leu2548Pro)
c.7478T>C (p.Leu2493Pro)
c.5627T>C (p.Leu1876Pro)
c.3317T>C (p.Leu1106Pro)
n.8016T>C
18g.23915392T>GCA402059324LAMA3c.2921T>G (p.Leu974Arg)
c.7748T>G (p.Leu2583Arg)
c.4343T>G (p.Leu1448Arg)
c.7580T>G (p.Leu2527Arg)
c.2526T>G
c.2753T>G (p.Leu918Arg)
n.2326T>G
c.7775T>G (p.Leu2592Arg)
c.7766T>G (p.Leu2589Arg)
c.7757T>G (p.Leu2586Arg)
c.7643T>G (p.Leu2548Arg)
c.7478T>G (p.Leu2493Arg)
c.5627T>G (p.Leu1876Arg)
c.3317T>G (p.Leu1106Arg)
n.8016T>G
18g.23915393C>ACA503339707LAMA3c.2922C>A (p.Leu974=)
c.7749C>A (p.Leu2583=)
c.4344C>A (p.Leu1448=)
c.7581C>A (p.Leu2527=)
c.2527C>A
c.2754C>A (p.Leu918=)
n.2327C>A
c.7776C>A (p.Leu2592=)
c.7767C>A (p.Leu2589=)
c.7758C>A (p.Leu2586=)
c.7644C>A (p.Leu2548=)
c.7479C>A (p.Leu2493=)
c.5628C>A (p.Leu1876=)
c.3318C>A (p.Leu1106=)
n.8017C>A
18g.23915393C=CA2290328993LAMA3c.2922C= (p.Leu974=)
c.7749C= (p.Leu2583=)
c.4344C= (p.Leu1448=)
c.7581C= (p.Leu2527=)
c.2527C=
c.2754C= (p.Leu918=)
n.2327C=
c.7776C= (p.Leu2592=)
c.7767C= (p.Leu2589=)
c.7758C= (p.Leu2586=)
c.7644C= (p.Leu2548=)
c.7479C= (p.Leu2493=)
c.5628C= (p.Leu1876=)
c.3318C= (p.Leu1106=)
n.8017C=
18g.23915393C>GCA8916737LAMA3c.2922C>G (p.Leu974=)
c.7749C>G (p.Leu2583=)
c.4344C>G (p.Leu1448=)
c.7581C>G (p.Leu2527=)
c.2527C>G
c.2754C>G (p.Leu918=)
n.2327C>G
c.7776C>G (p.Leu2592=)
c.7767C>G (p.Leu2589=)
c.7758C>G (p.Leu2586=)
c.7644C>G (p.Leu2548=)
c.7479C>G (p.Leu2493=)
c.5628C>G (p.Leu1876=)
c.3318C>G (p.Leu1106=)
n.8017C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915393C>TCA503339706LAMA3c.2922C>T (p.Leu974=)
c.7749C>T (p.Leu2583=)
c.4344C>T (p.Leu1448=)
c.7581C>T (p.Leu2527=)
c.2527C>T
c.2754C>T (p.Leu918=)
n.2327C>T
c.7776C>T (p.Leu2592=)
c.7767C>T (p.Leu2589=)
c.7758C>T (p.Leu2586=)
c.7644C>T (p.Leu2548=)
c.7479C>T (p.Leu2493=)
c.5628C>T (p.Leu1876=)
c.3318C>T (p.Leu1106=)
n.8017C>T
18g.23915394A=CA2290328995LAMA3c.2923A= (p.Asn975=)
c.7750A= (p.Asn2584=)
c.4345A= (p.Asn1449=)
c.7582A= (p.Asn2528=)
c.2528A=
c.2755A= (p.Asn919=)
n.2328A=
c.7777A= (p.Asn2593=)
c.7768A= (p.Asn2590=)
c.7759A= (p.Asn2587=)
c.7645A= (p.Asn2549=)
c.7480A= (p.Asn2494=)
c.5629A= (p.Asn1877=)
c.3319A= (p.Asn1107=)
n.8018A=
18g.23915394A>CCA402059328LAMA3c.2923A>C (p.Asn975His)
c.7750A>C (p.Asn2584His)
c.4345A>C (p.Asn1449His)
c.7582A>C (p.Asn2528His)
c.2528A>C
c.2755A>C (p.Asn919His)
n.2328A>C
c.7777A>C (p.Asn2593His)
c.7768A>C (p.Asn2590His)
c.7759A>C (p.Asn2587His)
c.7645A>C (p.Asn2549His)
c.7480A>C (p.Asn2494His)
c.5629A>C (p.Asn1877His)
c.3319A>C (p.Asn1107His)
n.8018A>C
 gnomAD v4
18g.23915394A>GCA402059326LAMA3c.2923A>G (p.Asn975Asp)
c.7750A>G (p.Asn2584Asp)
c.4345A>G (p.Asn1449Asp)
c.7582A>G (p.Asn2528Asp)
c.2528A>G
c.2755A>G (p.Asn919Asp)
n.2328A>G
c.7777A>G (p.Asn2593Asp)
c.7768A>G (p.Asn2590Asp)
c.7759A>G (p.Asn2587Asp)
c.7645A>G (p.Asn2549Asp)
c.7480A>G (p.Asn2494Asp)
c.5629A>G (p.Asn1877Asp)
c.3319A>G (p.Asn1107Asp)
n.8018A>G
 dbSNP gnomAD v4
18g.23915394A>TCA402059327LAMA3c.2923A>T (p.Asn975Tyr)
c.7750A>T (p.Asn2584Tyr)
c.4345A>T (p.Asn1449Tyr)
c.7582A>T (p.Asn2528Tyr)
c.2528A>T
c.2755A>T (p.Asn919Tyr)
n.2328A>T
c.7777A>T (p.Asn2593Tyr)
c.7768A>T (p.Asn2590Tyr)
c.7759A>T (p.Asn2587Tyr)
c.7645A>T (p.Asn2549Tyr)
c.7480A>T (p.Asn2494Tyr)
c.5629A>T (p.Asn1877Tyr)
c.3319A>T (p.Asn1107Tyr)
n.8018A>T
18g.23915395A=CA2290328997LAMA3c.2924A= (p.Asn975=)
c.7751A= (p.Asn2584=)
c.4346A= (p.Asn1449=)
c.7583A= (p.Asn2528=)
c.2529A=
c.2756A= (p.Asn919=)
n.2329A=
c.7778A= (p.Asn2593=)
c.7769A= (p.Asn2590=)
c.7760A= (p.Asn2587=)
c.7646A= (p.Asn2549=)
c.7481A= (p.Asn2494=)
c.5630A= (p.Asn1877=)
c.3320A= (p.Asn1107=)
n.8019A=
18g.23915395A>CCA402059329LAMA3c.2924A>C (p.Asn975Thr)
c.7751A>C (p.Asn2584Thr)
c.4346A>C (p.Asn1449Thr)
c.7583A>C (p.Asn2528Thr)
c.2529A>C
c.2756A>C (p.Asn919Thr)
n.2329A>C
c.7778A>C (p.Asn2593Thr)
c.7769A>C (p.Asn2590Thr)
c.7760A>C (p.Asn2587Thr)
c.7646A>C (p.Asn2549Thr)
c.7481A>C (p.Asn2494Thr)
c.5630A>C (p.Asn1877Thr)
c.3320A>C (p.Asn1107Thr)
n.8019A>C
 dbSNP
18g.23915395A>GCA8916738LAMA3c.2924A>G (p.Asn975Ser)
c.7751A>G (p.Asn2584Ser)
c.4346A>G (p.Asn1449Ser)
c.7583A>G (p.Asn2528Ser)
c.2529A>G
c.2756A>G (p.Asn919Ser)
n.2329A>G
c.7778A>G (p.Asn2593Ser)
c.7769A>G (p.Asn2590Ser)
c.7760A>G (p.Asn2587Ser)
c.7646A>G (p.Asn2549Ser)
c.7481A>G (p.Asn2494Ser)
c.5630A>G (p.Asn1877Ser)
c.3320A>G (p.Asn1107Ser)
n.8019A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915395A>TCA402059330LAMA3c.2924A>T (p.Asn975Ile)
c.7751A>T (p.Asn2584Ile)
c.4346A>T (p.Asn1449Ile)
c.7583A>T (p.Asn2528Ile)
c.2529A>T
c.2756A>T (p.Asn919Ile)
n.2329A>T
c.7778A>T (p.Asn2593Ile)
c.7769A>T (p.Asn2590Ile)
c.7760A>T (p.Asn2587Ile)
c.7646A>T (p.Asn2549Ile)
c.7481A>T (p.Asn2494Ile)
c.5630A>T (p.Asn1877Ile)
c.3320A>T (p.Asn1107Ile)
n.8019A>T
18g.23915396C>ACA402059331LAMA3c.2925C>A (p.Asn975Lys)
c.7752C>A (p.Asn2584Lys)
c.4347C>A (p.Asn1449Lys)
c.7584C>A (p.Asn2528Lys)
c.2530C>A
c.2757C>A (p.Asn919Lys)
n.2330C>A
c.7779C>A (p.Asn2593Lys)
c.7770C>A (p.Asn2590Lys)
c.7761C>A (p.Asn2587Lys)
c.7647C>A (p.Asn2549Lys)
c.7482C>A (p.Asn2494Lys)
c.5631C>A (p.Asn1877Lys)
c.3321C>A (p.Asn1107Lys)
n.8020C>A
18g.23915396C=CA2290328999LAMA3c.2925C= (p.Asn975=)
c.7752C= (p.Asn2584=)
c.4347C= (p.Asn1449=)
c.7584C= (p.Asn2528=)
c.2530C=
c.2757C= (p.Asn919=)
n.2330C=
c.7779C= (p.Asn2593=)
c.7770C= (p.Asn2590=)
c.7761C= (p.Asn2587=)
c.7647C= (p.Asn2549=)
c.7482C= (p.Asn2494=)
c.5631C= (p.Asn1877=)
c.3321C= (p.Asn1107=)
n.8020C=
18g.23915396C>GCA402059332LAMA3c.2925C>G (p.Asn975Lys)
c.7752C>G (p.Asn2584Lys)
c.4347C>G (p.Asn1449Lys)
c.7584C>G (p.Asn2528Lys)
c.2530C>G
c.2757C>G (p.Asn919Lys)
n.2330C>G
c.7779C>G (p.Asn2593Lys)
c.7770C>G (p.Asn2590Lys)
c.7761C>G (p.Asn2587Lys)
c.7647C>G (p.Asn2549Lys)
c.7482C>G (p.Asn2494Lys)
c.5631C>G (p.Asn1877Lys)
c.3321C>G (p.Asn1107Lys)
n.8020C>G
18g.23915396C>TCA8916739LAMA3c.2925C>T (p.Asn975=)
c.7752C>T (p.Asn2584=)
c.4347C>T (p.Asn1449=)
c.7584C>T (p.Asn2528=)
c.2530C>T
c.2757C>T (p.Asn919=)
n.2330C>T
c.7779C>T (p.Asn2593=)
c.7770C>T (p.Asn2590=)
c.7761C>T (p.Asn2587=)
c.7647C>T (p.Asn2549=)
c.7482C>T (p.Asn2494=)
c.5631C>T (p.Asn1877=)
c.3321C>T (p.Asn1107=)
n.8020C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915397A=CA2290329001LAMA3c.2926A= (p.Thr976=)
c.7753A= (p.Thr2585=)
c.4348A= (p.Thr1450=)
c.7585A= (p.Thr2529=)
c.2531A=
c.2758A= (p.Thr920=)
n.2331A=
c.7780A= (p.Thr2594=)
c.7771A= (p.Thr2591=)
c.7762A= (p.Thr2588=)
c.7648A= (p.Thr2550=)
c.7483A= (p.Thr2495=)
c.5632A= (p.Thr1878=)
c.3322A= (p.Thr1108=)
n.8021A=
18g.23915397A>CCA402059333LAMA3c.2926A>C (p.Thr976Pro)
c.7753A>C (p.Thr2585Pro)
c.4348A>C (p.Thr1450Pro)
c.7585A>C (p.Thr2529Pro)
c.2531A>C
c.2758A>C (p.Thr920Pro)
n.2331A>C
c.7780A>C (p.Thr2594Pro)
c.7771A>C (p.Thr2591Pro)
c.7762A>C (p.Thr2588Pro)
c.7648A>C (p.Thr2550Pro)
c.7483A>C (p.Thr2495Pro)
c.5632A>C (p.Thr1878Pro)
c.3322A>C (p.Thr1108Pro)
n.8021A>C
18g.23915397A>GCA402059334LAMA3c.2926A>G (p.Thr976Ala)
c.7753A>G (p.Thr2585Ala)
c.4348A>G (p.Thr1450Ala)
c.7585A>G (p.Thr2529Ala)
c.2531A>G
c.2758A>G (p.Thr920Ala)
n.2331A>G
c.7780A>G (p.Thr2594Ala)
c.7771A>G (p.Thr2591Ala)
c.7762A>G (p.Thr2588Ala)
c.7648A>G (p.Thr2550Ala)
c.7483A>G (p.Thr2495Ala)
c.5632A>G (p.Thr1878Ala)
c.3322A>G (p.Thr1108Ala)
n.8021A>G
 dbSNP gnomAD v2 gnomAD v4
18g.23915397A>TCA402059335LAMA3c.2926A>T (p.Thr976Ser)
c.7753A>T (p.Thr2585Ser)
c.4348A>T (p.Thr1450Ser)
c.7585A>T (p.Thr2529Ser)
c.2531A>T
c.2758A>T (p.Thr920Ser)
n.2331A>T
c.7780A>T (p.Thr2594Ser)
c.7771A>T (p.Thr2591Ser)
c.7762A>T (p.Thr2588Ser)
c.7648A>T (p.Thr2550Ser)
c.7483A>T (p.Thr2495Ser)
c.5632A>T (p.Thr1878Ser)
c.3322A>T (p.Thr1108Ser)
n.8021A>T
18g.23915398C>ACA402059338LAMA3c.2927C>A (p.Thr976Lys)
c.7754C>A (p.Thr2585Lys)
c.4349C>A (p.Thr1450Lys)
c.7586C>A (p.Thr2529Lys)
c.2532C>A
c.2759C>A (p.Thr920Lys)
n.2332C>A
c.7781C>A (p.Thr2594Lys)
c.7772C>A (p.Thr2591Lys)
c.7763C>A (p.Thr2588Lys)
c.7649C>A (p.Thr2550Lys)
c.7484C>A (p.Thr2495Lys)
c.5633C>A (p.Thr1878Lys)
c.3323C>A (p.Thr1108Lys)
n.8022C>A
18g.23915398C>GCA402059337LAMA3c.2927C>G (p.Thr976Arg)
c.7754C>G (p.Thr2585Arg)
c.4349C>G (p.Thr1450Arg)
c.7586C>G (p.Thr2529Arg)
c.2532C>G
c.2759C>G (p.Thr920Arg)
n.2332C>G
c.7781C>G (p.Thr2594Arg)
c.7772C>G (p.Thr2591Arg)
c.7763C>G (p.Thr2588Arg)
c.7649C>G (p.Thr2550Arg)
c.7484C>G (p.Thr2495Arg)
c.5633C>G (p.Thr1878Arg)
c.3323C>G (p.Thr1108Arg)
n.8022C>G
18g.23915398C>TCA402059336LAMA3c.2927C>T (p.Thr976Ile)
c.7754C>T (p.Thr2585Ile)
c.4349C>T (p.Thr1450Ile)
c.7586C>T (p.Thr2529Ile)
c.2532C>T
c.2759C>T (p.Thr920Ile)
n.2332C>T
c.7781C>T (p.Thr2594Ile)
c.7772C>T (p.Thr2591Ile)
c.7763C>T (p.Thr2588Ile)
c.7649C>T (p.Thr2550Ile)
c.7484C>T (p.Thr2495Ile)
c.5633C>T (p.Thr1878Ile)
c.3323C>T (p.Thr1108Ile)
n.8022C>T
18g.23915399A>CCA503339711LAMA3c.2928A>C (p.Thr976=)
c.7755A>C (p.Thr2585=)
c.4350A>C (p.Thr1450=)
c.7587A>C (p.Thr2529=)
c.2533A>C
c.2760A>C (p.Thr920=)
n.2333A>C
c.7782A>C (p.Thr2594=)
c.7773A>C (p.Thr2591=)
c.7764A>C (p.Thr2588=)
c.7650A>C (p.Thr2550=)
c.7485A>C (p.Thr2495=)
c.5634A>C (p.Thr1878=)
c.3324A>C (p.Thr1108=)
n.8023A>C
18g.23915399A>GCA503339713LAMA3c.2928A>G (p.Thr976=)
c.7755A>G (p.Thr2585=)
c.4350A>G (p.Thr1450=)
c.7587A>G (p.Thr2529=)
c.2533A>G
c.2760A>G (p.Thr920=)
n.2333A>G
c.7782A>G (p.Thr2594=)
c.7773A>G (p.Thr2591=)
c.7764A>G (p.Thr2588=)
c.7650A>G (p.Thr2550=)
c.7485A>G (p.Thr2495=)
c.5634A>G (p.Thr1878=)
c.3324A>G (p.Thr1108=)
n.8023A>G
18g.23915399A>TCA503339712LAMA3c.2928A>T (p.Thr976=)
c.7755A>T (p.Thr2585=)
c.4350A>T (p.Thr1450=)
c.7587A>T (p.Thr2529=)
c.2533A>T
c.2760A>T (p.Thr920=)
n.2333A>T
c.7782A>T (p.Thr2594=)
c.7773A>T (p.Thr2591=)
c.7764A>T (p.Thr2588=)
c.7650A>T (p.Thr2550=)
c.7485A>T (p.Thr2495=)
c.5634A>T (p.Thr1878=)
c.3324A>T (p.Thr1108=)
n.8023A>T
18g.23915400A=CA2290329002LAMA3c.2929A= (p.Thr977=)
c.7756A= (p.Thr2586=)
c.4351A= (p.Thr1451=)
c.7588A= (p.Thr2530=)
c.2534A=
c.2761A= (p.Thr921=)
n.2334A=
c.7783A= (p.Thr2595=)
c.7774A= (p.Thr2592=)
c.7765A= (p.Thr2589=)
c.7651A= (p.Thr2551=)
c.7486A= (p.Thr2496=)
c.5635A= (p.Thr1879=)
c.3325A= (p.Thr1109=)
n.8024A=
18g.23915400A>CCA402059339LAMA3c.2929A>C (p.Thr977Pro)
c.7756A>C (p.Thr2586Pro)
c.4351A>C (p.Thr1451Pro)
c.7588A>C (p.Thr2530Pro)
c.2534A>C
c.2761A>C (p.Thr921Pro)
n.2334A>C
c.7783A>C (p.Thr2595Pro)
c.7774A>C (p.Thr2592Pro)
c.7765A>C (p.Thr2589Pro)
c.7651A>C (p.Thr2551Pro)
c.7486A>C (p.Thr2496Pro)
c.5635A>C (p.Thr1879Pro)
c.3325A>C (p.Thr1109Pro)
n.8024A>C
18g.23915400A>GCA402059340LAMA3c.2929A>G (p.Thr977Ala)
c.7756A>G (p.Thr2586Ala)
c.4351A>G (p.Thr1451Ala)
c.7588A>G (p.Thr2530Ala)
c.2534A>G
c.2761A>G (p.Thr921Ala)
n.2334A>G
c.7783A>G (p.Thr2595Ala)
c.7774A>G (p.Thr2592Ala)
c.7765A>G (p.Thr2589Ala)
c.7651A>G (p.Thr2551Ala)
c.7486A>G (p.Thr2496Ala)
c.5635A>G (p.Thr1879Ala)
c.3325A>G (p.Thr1109Ala)
n.8024A>G
 dbSNP gnomAD v2
18g.23915400A>TCA402059341LAMA3c.2929A>T (p.Thr977Ser)
c.7756A>T (p.Thr2586Ser)
c.4351A>T (p.Thr1451Ser)
c.7588A>T (p.Thr2530Ser)
c.2534A>T
c.2761A>T (p.Thr921Ser)
n.2334A>T
c.7783A>T (p.Thr2595Ser)
c.7774A>T (p.Thr2592Ser)
c.7765A>T (p.Thr2589Ser)
c.7651A>T (p.Thr2551Ser)
c.7486A>T (p.Thr2496Ser)
c.5635A>T (p.Thr1879Ser)
c.3325A>T (p.Thr1109Ser)
n.8024A>T
 COSMIC COSMIC
18g.23915401C>ACA402059342LAMA3c.2930C>A (p.Thr977Asn)
c.7757C>A (p.Thr2586Asn)
c.4352C>A (p.Thr1451Asn)
c.7589C>A (p.Thr2530Asn)
c.2535C>A
c.2762C>A (p.Thr921Asn)
n.2335C>A
c.7784C>A (p.Thr2595Asn)
c.7775C>A (p.Thr2592Asn)
c.7766C>A (p.Thr2589Asn)
c.7652C>A (p.Thr2551Asn)
c.7487C>A (p.Thr2496Asn)
c.5636C>A (p.Thr1879Asn)
c.3326C>A (p.Thr1109Asn)
n.8025C>A
18g.23915401C=CA2290329004LAMA3c.2930C= (p.Thr977=)
c.7757C= (p.Thr2586=)
c.4352C= (p.Thr1451=)
c.7589C= (p.Thr2530=)
c.2535C=
c.2762C= (p.Thr921=)
n.2335C=
c.7784C= (p.Thr2595=)
c.7775C= (p.Thr2592=)
c.7766C= (p.Thr2589=)
c.7652C= (p.Thr2551=)
c.7487C= (p.Thr2496=)
c.5636C= (p.Thr1879=)
c.3326C= (p.Thr1109=)
n.8025C=
18g.23915401C>GCA402059343LAMA3c.2930C>G (p.Thr977Ser)
c.7757C>G (p.Thr2586Ser)
c.4352C>G (p.Thr1451Ser)
c.7589C>G (p.Thr2530Ser)
c.2535C>G
c.2762C>G (p.Thr921Ser)
n.2335C>G
c.7784C>G (p.Thr2595Ser)
c.7775C>G (p.Thr2592Ser)
c.7766C>G (p.Thr2589Ser)
c.7652C>G (p.Thr2551Ser)
c.7487C>G (p.Thr2496Ser)
c.5636C>G (p.Thr1879Ser)
c.3326C>G (p.Thr1109Ser)
n.8025C>G
 gnomAD v4
18g.23915401C>TCA402059344LAMA3c.2930C>T (p.Thr977Ile)
c.7757C>T (p.Thr2586Ile)
c.4352C>T (p.Thr1451Ile)
c.7589C>T (p.Thr2530Ile)
c.2535C>T
c.2762C>T (p.Thr921Ile)
n.2335C>T
c.7784C>T (p.Thr2595Ile)
c.7775C>T (p.Thr2592Ile)
c.7766C>T (p.Thr2589Ile)
c.7652C>T (p.Thr2551Ile)
c.7487C>T (p.Thr2496Ile)
c.5636C>T (p.Thr1879Ile)
c.3326C>T (p.Thr1109Ile)
n.8025C>T
 dbSNP gnomAD v2
18g.23915402T>ACA503339714LAMA3c.2931T>A (p.Thr977=)
c.7758T>A (p.Thr2586=)
c.4353T>A (p.Thr1451=)
c.7590T>A (p.Thr2530=)
c.2536T>A
c.2763T>A (p.Thr921=)
n.2336T>A
c.7785T>A (p.Thr2595=)
c.7776T>A (p.Thr2592=)
c.7767T>A (p.Thr2589=)
c.7653T>A (p.Thr2551=)
c.7488T>A (p.Thr2496=)
c.5637T>A (p.Thr1879=)
c.3327T>A (p.Thr1109=)
n.8026T>A
18g.23915402T>CCA503339715LAMA3c.2931T>C (p.Thr977=)
c.7758T>C (p.Thr2586=)
c.4353T>C (p.Thr1451=)
c.7590T>C (p.Thr2530=)
c.2536T>C
c.2763T>C (p.Thr921=)
n.2336T>C
c.7785T>C (p.Thr2595=)
c.7776T>C (p.Thr2592=)
c.7767T>C (p.Thr2589=)
c.7653T>C (p.Thr2551=)
c.7488T>C (p.Thr2496=)
c.5637T>C (p.Thr1879=)
c.3327T>C (p.Thr1109=)
n.8026T>C
18g.23915402T>GCA503339716LAMA3c.2931T>G (p.Thr977=)
c.7758T>G (p.Thr2586=)
c.4353T>G (p.Thr1451=)
c.7590T>G (p.Thr2530=)
c.2536T>G
c.2763T>G (p.Thr921=)
n.2336T>G
c.7785T>G (p.Thr2595=)
c.7776T>G (p.Thr2592=)
c.7767T>G (p.Thr2589=)
c.7653T>G (p.Thr2551=)
c.7488T>G (p.Thr2496=)
c.5637T>G (p.Thr1879=)
c.3327T>G (p.Thr1109=)
n.8026T>G
18g.23915403G>ACA402059345LAMA3c.2932G>A (p.Glu978Lys)
c.7759G>A (p.Glu2587Lys)
c.4354G>A (p.Glu1452Lys)
c.7591G>A (p.Glu2531Lys)
c.2537G>A
c.2764G>A (p.Glu922Lys)
n.2337G>A
c.7786G>A (p.Glu2596Lys)
c.7777G>A (p.Glu2593Lys)
c.7768G>A (p.Glu2590Lys)
c.7654G>A (p.Glu2552Lys)
c.7489G>A (p.Glu2497Lys)
c.5638G>A (p.Glu1880Lys)
c.3328G>A (p.Glu1110Lys)
n.8027G>A
18g.23915403G>CCA402059346LAMA3c.2932G>C (p.Glu978Gln)
c.7759G>C (p.Glu2587Gln)
c.4354G>C (p.Glu1452Gln)
c.7591G>C (p.Glu2531Gln)
c.2537G>C
c.2764G>C (p.Glu922Gln)
n.2337G>C
c.7786G>C (p.Glu2596Gln)
c.7777G>C (p.Glu2593Gln)
c.7768G>C (p.Glu2590Gln)
c.7654G>C (p.Glu2552Gln)
c.7489G>C (p.Glu2497Gln)
c.5638G>C (p.Glu1880Gln)
c.3328G>C (p.Glu1110Gln)
n.8027G>C
18g.23915403G>TCA402059347LAMA3c.2932G>T (p.Glu978Ter)
c.7759G>T (p.Glu2587Ter)
c.4354G>T (p.Glu1452Ter)
c.7591G>T (p.Glu2531Ter)
c.2537G>T
c.2764G>T (p.Glu922Ter)
n.2337G>T
c.7786G>T (p.Glu2596Ter)
c.7777G>T (p.Glu2593Ter)
c.7768G>T (p.Glu2590Ter)
c.7654G>T (p.Glu2552Ter)
c.7489G>T (p.Glu2497Ter)
c.5638G>T (p.Glu1880Ter)
c.3328G>T (p.Glu1110Ter)
n.8027G>T
18g.23915404A>CCA402059348LAMA3c.2933A>C (p.Glu978Ala)
c.7760A>C (p.Glu2587Ala)
c.4355A>C (p.Glu1452Ala)
c.7592A>C (p.Glu2531Ala)
c.2538A>C
c.2765A>C (p.Glu922Ala)
n.2338A>C
c.7787A>C (p.Glu2596Ala)
c.7778A>C (p.Glu2593Ala)
c.7769A>C (p.Glu2590Ala)
c.7655A>C (p.Glu2552Ala)
c.7490A>C (p.Glu2497Ala)
c.5639A>C (p.Glu1880Ala)
c.3329A>C (p.Glu1110Ala)
n.8028A>C
18g.23915404A>GCA402059349LAMA3c.2933A>G (p.Glu978Gly)
c.7760A>G (p.Glu2587Gly)
c.4355A>G (p.Glu1452Gly)
c.7592A>G (p.Glu2531Gly)
c.2538A>G
c.2765A>G (p.Glu922Gly)
n.2338A>G
c.7787A>G (p.Glu2596Gly)
c.7778A>G (p.Glu2593Gly)
c.7769A>G (p.Glu2590Gly)
c.7655A>G (p.Glu2552Gly)
c.7490A>G (p.Glu2497Gly)
c.5639A>G (p.Glu1880Gly)
c.3329A>G (p.Glu1110Gly)
n.8028A>G
18g.23915404A>TCA402059350LAMA3c.2933A>T (p.Glu978Val)
c.7760A>T (p.Glu2587Val)
c.4355A>T (p.Glu1452Val)
c.7592A>T (p.Glu2531Val)
c.2538A>T
c.2765A>T (p.Glu922Val)
n.2338A>T
c.7787A>T (p.Glu2596Val)
c.7778A>T (p.Glu2593Val)
c.7769A>T (p.Glu2590Val)
c.7655A>T (p.Glu2552Val)
c.7490A>T (p.Glu2497Val)
c.5639A>T (p.Glu1880Val)
c.3329A>T (p.Glu1110Val)
n.8028A>T
18g.23915405A>CCA402059352LAMA3c.2934A>C (p.Glu978Asp)
c.7761A>C (p.Glu2587Asp)
c.4356A>C (p.Glu1452Asp)
c.7593A>C (p.Glu2531Asp)
c.2539A>C
c.2766A>C (p.Glu922Asp)
n.2339A>C
c.7788A>C (p.Glu2596Asp)
c.7779A>C (p.Glu2593Asp)
c.7770A>C (p.Glu2590Asp)
c.7656A>C (p.Glu2552Asp)
c.7491A>C (p.Glu2497Asp)
c.5640A>C (p.Glu1880Asp)
c.3330A>C (p.Glu1110Asp)
n.8029A>C
18g.23915405A>GCA503339717LAMA3c.2934A>G (p.Glu978=)
c.7761A>G (p.Glu2587=)
c.4356A>G (p.Glu1452=)
c.7593A>G (p.Glu2531=)
c.2539A>G
c.2766A>G (p.Glu922=)
n.2339A>G
c.7788A>G (p.Glu2596=)
c.7779A>G (p.Glu2593=)
c.7770A>G (p.Glu2590=)
c.7656A>G (p.Glu2552=)
c.7491A>G (p.Glu2497=)
c.5640A>G (p.Glu1880=)
c.3330A>G (p.Glu1110=)
n.8029A>G
 ClinVar
18g.23915405A>TCA402059351LAMA3c.2934A>T (p.Glu978Asp)
c.7761A>T (p.Glu2587Asp)
c.4356A>T (p.Glu1452Asp)
c.7593A>T (p.Glu2531Asp)
c.2539A>T
c.2766A>T (p.Glu922Asp)
n.2339A>T
c.7788A>T (p.Glu2596Asp)
c.7779A>T (p.Glu2593Asp)
c.7770A>T (p.Glu2590Asp)
c.7656A>T (p.Glu2552Asp)
c.7491A>T (p.Glu2497Asp)
c.5640A>T (p.Glu1880Asp)
c.3330A>T (p.Glu1110Asp)
n.8029A>T
18g.23915406G>ACA402059353LAMA3c.2935G>A (p.Val979Met)
c.7762G>A (p.Val2588Met)
c.4357G>A (p.Val1453Met)
c.7594G>A (p.Val2532Met)
c.2540G>A
c.2767G>A (p.Val923Met)
n.2340G>A
c.7789G>A (p.Val2597Met)
c.7780G>A (p.Val2594Met)
c.7771G>A (p.Val2591Met)
c.7657G>A (p.Val2553Met)
c.7492G>A (p.Val2498Met)
c.5641G>A (p.Val1881Met)
c.3331G>A (p.Val1111Met)
n.8030G>A
 gnomAD v4
18g.23915406G>CCA402059354LAMA3c.2935G>C (p.Val979Leu)
c.7762G>C (p.Val2588Leu)
c.4357G>C (p.Val1453Leu)
c.7594G>C (p.Val2532Leu)
c.2540G>C
c.2767G>C (p.Val923Leu)
n.2340G>C
c.7789G>C (p.Val2597Leu)
c.7780G>C (p.Val2594Leu)
c.7771G>C (p.Val2591Leu)
c.7657G>C (p.Val2553Leu)
c.7492G>C (p.Val2498Leu)
c.5641G>C (p.Val1881Leu)
c.3331G>C (p.Val1111Leu)
n.8030G>C
18g.23915406G>TCA402059355LAMA3c.2935G>T (p.Val979Leu)
c.7762G>T (p.Val2588Leu)
c.4357G>T (p.Val1453Leu)
c.7594G>T (p.Val2532Leu)
c.2540G>T
c.2767G>T (p.Val923Leu)
n.2340G>T
c.7789G>T (p.Val2597Leu)
c.7780G>T (p.Val2594Leu)
c.7771G>T (p.Val2591Leu)
c.7657G>T (p.Val2553Leu)
c.7492G>T (p.Val2498Leu)
c.5641G>T (p.Val1881Leu)
c.3331G>T (p.Val1111Leu)
n.8030G>T
18g.23915407T>ACA402059356LAMA3c.2936T>A (p.Val979Glu)
c.7763T>A (p.Val2588Glu)
c.4358T>A (p.Val1453Glu)
c.7595T>A (p.Val2532Glu)
c.2541T>A
c.2768T>A (p.Val923Glu)
n.2341T>A
c.7790T>A (p.Val2597Glu)
c.7781T>A (p.Val2594Glu)
c.7772T>A (p.Val2591Glu)
c.7658T>A (p.Val2553Glu)
c.7493T>A (p.Val2498Glu)
c.5642T>A (p.Val1881Glu)
c.3332T>A (p.Val1111Glu)
n.8031T>A
18g.23915407T>CCA402059357LAMA3c.2936T>C (p.Val979Ala)
c.7763T>C (p.Val2588Ala)
c.4358T>C (p.Val1453Ala)
c.7595T>C (p.Val2532Ala)
c.2541T>C
c.2768T>C (p.Val923Ala)
n.2341T>C
c.7790T>C (p.Val2597Ala)
c.7781T>C (p.Val2594Ala)
c.7772T>C (p.Val2591Ala)
c.7658T>C (p.Val2553Ala)
c.7493T>C (p.Val2498Ala)
c.5642T>C (p.Val1881Ala)
c.3332T>C (p.Val1111Ala)
n.8031T>C
18g.23915407T>GCA402059358LAMA3c.2936T>G (p.Val979Gly)
c.7763T>G (p.Val2588Gly)
c.4358T>G (p.Val1453Gly)
c.7595T>G (p.Val2532Gly)
c.2541T>G
c.2768T>G (p.Val923Gly)
n.2341T>G
c.7790T>G (p.Val2597Gly)
c.7781T>G (p.Val2594Gly)
c.7772T>G (p.Val2591Gly)
c.7658T>G (p.Val2553Gly)
c.7493T>G (p.Val2498Gly)
c.5642T>G (p.Val1881Gly)
c.3332T>G (p.Val1111Gly)
n.8031T>G
18g.23915408G>ACA503339721LAMA3c.2937G>A (p.Val979=)
c.7764G>A (p.Val2588=)
c.4359G>A (p.Val1453=)
c.7596G>A (p.Val2532=)
c.2542G>A
c.2769G>A (p.Val923=)
n.2342G>A
c.7791G>A (p.Val2597=)
c.7782G>A (p.Val2594=)
c.7773G>A (p.Val2591=)
c.7659G>A (p.Val2553=)
c.7494G>A (p.Val2498=)
c.5643G>A (p.Val1881=)
c.3333G>A (p.Val1111=)
n.8032G>A
18g.23915408G>CCA503339720LAMA3c.2937G>C (p.Val979=)
c.7764G>C (p.Val2588=)
c.4359G>C (p.Val1453=)
c.7596G>C (p.Val2532=)
c.2542G>C
c.2769G>C (p.Val923=)
n.2342G>C
c.7791G>C (p.Val2597=)
c.7782G>C (p.Val2594=)
c.7773G>C (p.Val2591=)
c.7659G>C (p.Val2553=)
c.7494G>C (p.Val2498=)
c.5643G>C (p.Val1881=)
c.3333G>C (p.Val1111=)
n.8032G>C
18g.23915408G>TCA503339718LAMA3c.2937G>T (p.Val979=)
c.7764G>T (p.Val2588=)
c.4359G>T (p.Val1453=)
c.7596G>T (p.Val2532=)
c.2542G>T
c.2769G>T (p.Val923=)
n.2342G>T
c.7791G>T (p.Val2597=)
c.7782G>T (p.Val2594=)
c.7773G>T (p.Val2591=)
c.7659G>T (p.Val2553=)
c.7494G>T (p.Val2498=)
c.5643G>T (p.Val1881=)
c.3333G>T (p.Val1111=)
n.8032G>T
18g.23915409G>ACA402059361LAMA3c.2938G>A (p.Glu980Lys)
c.7765G>A (p.Glu2589Lys)
c.4360G>A (p.Glu1454Lys)
c.7597G>A (p.Glu2533Lys)
c.2543G>A
c.2770G>A (p.Glu924Lys)
n.2343G>A
c.7792G>A (p.Glu2598Lys)
c.7783G>A (p.Glu2595Lys)
c.7774G>A (p.Glu2592Lys)
c.7660G>A (p.Glu2554Lys)
c.7495G>A (p.Glu2499Lys)
c.5644G>A (p.Glu1882Lys)
c.3334G>A (p.Glu1112Lys)
n.8033G>A
18g.23915409G>CCA402059359LAMA3c.2938G>C (p.Glu980Gln)
c.7765G>C (p.Glu2589Gln)
c.4360G>C (p.Glu1454Gln)
c.7597G>C (p.Glu2533Gln)
c.2543G>C
c.2770G>C (p.Glu924Gln)
n.2343G>C
c.7792G>C (p.Glu2598Gln)
c.7783G>C (p.Glu2595Gln)
c.7774G>C (p.Glu2592Gln)
c.7660G>C (p.Glu2554Gln)
c.7495G>C (p.Glu2499Gln)
c.5644G>C (p.Glu1882Gln)
c.3334G>C (p.Glu1112Gln)
n.8033G>C
18g.23915409G>TCA402059360LAMA3c.2938G>T (p.Glu980Ter)
c.7765G>T (p.Glu2589Ter)
c.4360G>T (p.Glu1454Ter)
c.7597G>T (p.Glu2533Ter)
c.2543G>T
c.2770G>T (p.Glu924Ter)
n.2343G>T
c.7792G>T (p.Glu2598Ter)
c.7783G>T (p.Glu2595Ter)
c.7774G>T (p.Glu2592Ter)
c.7660G>T (p.Glu2554Ter)
c.7495G>T (p.Glu2499Ter)
c.5644G>T (p.Glu1882Ter)
c.3334G>T (p.Glu1112Ter)
n.8033G>T
18g.23915410A>CCA402059362LAMA3c.2939A>C (p.Glu980Ala)
c.7766A>C (p.Glu2589Ala)
c.4361A>C (p.Glu1454Ala)
c.7598A>C (p.Glu2533Ala)
c.2544A>C
c.2771A>C (p.Glu924Ala)
n.2344A>C
c.7793A>C (p.Glu2598Ala)
c.7784A>C (p.Glu2595Ala)
c.7775A>C (p.Glu2592Ala)
c.7661A>C (p.Glu2554Ala)
c.7496A>C (p.Glu2499Ala)
c.5645A>C (p.Glu1882Ala)
c.3335A>C (p.Glu1112Ala)
n.8034A>C
18g.23915410A>GCA402059363LAMA3c.2939A>G (p.Glu980Gly)
c.7766A>G (p.Glu2589Gly)
c.4361A>G (p.Glu1454Gly)
c.7598A>G (p.Glu2533Gly)
c.2544A>G
c.2771A>G (p.Glu924Gly)
n.2344A>G
c.7793A>G (p.Glu2598Gly)
c.7784A>G (p.Glu2595Gly)
c.7775A>G (p.Glu2592Gly)
c.7661A>G (p.Glu2554Gly)
c.7496A>G (p.Glu2499Gly)
c.5645A>G (p.Glu1882Gly)
c.3335A>G (p.Glu1112Gly)
n.8034A>G
18g.23915410A>TCA402059364LAMA3c.2939A>T (p.Glu980Val)
c.7766A>T (p.Glu2589Val)
c.4361A>T (p.Glu1454Val)
c.7598A>T (p.Glu2533Val)
c.2544A>T
c.2771A>T (p.Glu924Val)
n.2344A>T
c.7793A>T (p.Glu2598Val)
c.7784A>T (p.Glu2595Val)
c.7775A>T (p.Glu2592Val)
c.7661A>T (p.Glu2554Val)
c.7496A>T (p.Glu2499Val)
c.5645A>T (p.Glu1882Val)
c.3335A>T (p.Glu1112Val)
n.8034A>T
18g.23915411G>ACA503339722LAMA3c.2940G>A (p.Glu980=)
c.7767G>A (p.Glu2589=)
c.4362G>A (p.Glu1454=)
c.7599G>A (p.Glu2533=)
c.2545G>A
c.2772G>A (p.Glu924=)
n.2345G>A
c.7794G>A (p.Glu2598=)
c.7785G>A (p.Glu2595=)
c.7776G>A (p.Glu2592=)
c.7662G>A (p.Glu2554=)
c.7497G>A (p.Glu2499=)
c.5646G>A (p.Glu1882=)
c.3336G>A (p.Glu1112=)
n.8035G>A
 ClinVar dbSNP
18g.23915411G>CCA402059365LAMA3c.2940G>C (p.Glu980Asp)
c.7767G>C (p.Glu2589Asp)
c.4362G>C (p.Glu1454Asp)
c.7599G>C (p.Glu2533Asp)
c.2545G>C
c.2772G>C (p.Glu924Asp)
n.2345G>C
c.7794G>C (p.Glu2598Asp)
c.7785G>C (p.Glu2595Asp)
c.7776G>C (p.Glu2592Asp)
c.7662G>C (p.Glu2554Asp)
c.7497G>C (p.Glu2499Asp)
c.5646G>C (p.Glu1882Asp)
c.3336G>C (p.Glu1112Asp)
n.8035G>C
18g.23915411G=CA2290329006LAMA3c.2940G= (p.Glu980=)
c.7767G= (p.Glu2589=)
c.4362G= (p.Glu1454=)
c.7599G= (p.Glu2533=)
c.2545G=
c.2772G= (p.Glu924=)
n.2345G=
c.7794G= (p.Glu2598=)
c.7785G= (p.Glu2595=)
c.7776G= (p.Glu2592=)
c.7662G= (p.Glu2554=)
c.7497G= (p.Glu2499=)
c.5646G= (p.Glu1882=)
c.3336G= (p.Glu1112=)
n.8035G=
18g.23915411G>TCA402059366LAMA3c.2940G>T (p.Glu980Asp)
c.7767G>T (p.Glu2589Asp)
c.4362G>T (p.Glu1454Asp)
c.7599G>T (p.Glu2533Asp)
c.2545G>T
c.2772G>T (p.Glu924Asp)
n.2345G>T
c.7794G>T (p.Glu2598Asp)
c.7785G>T (p.Glu2595Asp)
c.7776G>T (p.Glu2592Asp)
c.7662G>T (p.Glu2554Asp)
c.7497G>T (p.Glu2499Asp)
c.5646G>T (p.Glu1882Asp)
c.3336G>T (p.Glu1112Asp)
n.8035G>T
18g.23915412C>ACA402059367LAMA3c.2941C>A (p.Pro981Thr)
c.7768C>A (p.Pro2590Thr)
c.4363C>A (p.Pro1455Thr)
c.7600C>A (p.Pro2534Thr)
c.2546C>A
c.2773C>A (p.Pro925Thr)
n.2346C>A
c.7795C>A (p.Pro2599Thr)
c.7786C>A (p.Pro2596Thr)
c.7777C>A (p.Pro2593Thr)
c.7663C>A (p.Pro2555Thr)
c.7498C>A (p.Pro2500Thr)
c.5647C>A (p.Pro1883Thr)
c.3337C>A (p.Pro1113Thr)
n.8036C>A
 dbSNP
18g.23915412C=CA2290329008LAMA3c.2941C= (p.Pro981=)
c.7768C= (p.Pro2590=)
c.4363C= (p.Pro1455=)
c.7600C= (p.Pro2534=)
c.2546C=
c.2773C= (p.Pro925=)
n.2346C=
c.7795C= (p.Pro2599=)
c.7786C= (p.Pro2596=)
c.7777C= (p.Pro2593=)
c.7663C= (p.Pro2555=)
c.7498C= (p.Pro2500=)
c.5647C= (p.Pro1883=)
c.3337C= (p.Pro1113=)
n.8036C=
18g.23915412C>GCA402059369LAMA3c.2941C>G (p.Pro981Ala)
c.7768C>G (p.Pro2590Ala)
c.4363C>G (p.Pro1455Ala)
c.7600C>G (p.Pro2534Ala)
c.2546C>G
c.2773C>G (p.Pro925Ala)
n.2346C>G
c.7795C>G (p.Pro2599Ala)
c.7786C>G (p.Pro2596Ala)
c.7777C>G (p.Pro2593Ala)
c.7663C>G (p.Pro2555Ala)
c.7498C>G (p.Pro2500Ala)
c.5647C>G (p.Pro1883Ala)
c.3337C>G (p.Pro1113Ala)
n.8036C>G
18g.23915412C>TCA402059368LAMA3c.2941C>T (p.Pro981Ser)
c.7768C>T (p.Pro2590Ser)
c.4363C>T (p.Pro1455Ser)
c.7600C>T (p.Pro2534Ser)
c.2546C>T
c.2773C>T (p.Pro925Ser)
n.2346C>T
c.7795C>T (p.Pro2599Ser)
c.7786C>T (p.Pro2596Ser)
c.7777C>T (p.Pro2593Ser)
c.7663C>T (p.Pro2555Ser)
c.7498C>T (p.Pro2500Ser)
c.5647C>T (p.Pro1883Ser)
c.3337C>T (p.Pro1113Ser)
n.8036C>T
 dbSNP gnomAD v3 gnomAD v4
18g.23915413C>ACA402059370LAMA3c.2942C>A (p.Pro981His)
c.7769C>A (p.Pro2590His)
c.4364C>A (p.Pro1455His)
c.7601C>A (p.Pro2534His)
c.2547C>A
c.2774C>A (p.Pro925His)
n.2347C>A
c.7796C>A (p.Pro2599His)
c.7787C>A (p.Pro2596His)
c.7778C>A (p.Pro2593His)
c.7664C>A (p.Pro2555His)
c.7499C>A (p.Pro2500His)
c.5648C>A (p.Pro1883His)
c.3338C>A (p.Pro1113His)
n.8037C>A
18g.23915413C>GCA402059371LAMA3c.2942C>G (p.Pro981Arg)
c.7769C>G (p.Pro2590Arg)
c.4364C>G (p.Pro1455Arg)
c.7601C>G (p.Pro2534Arg)
c.2547C>G
c.2774C>G (p.Pro925Arg)
n.2347C>G
c.7796C>G (p.Pro2599Arg)
c.7787C>G (p.Pro2596Arg)
c.7778C>G (p.Pro2593Arg)
c.7664C>G (p.Pro2555Arg)
c.7499C>G (p.Pro2500Arg)
c.5648C>G (p.Pro1883Arg)
c.3338C>G (p.Pro1113Arg)
n.8037C>G
18g.23915413C>TCA402059372LAMA3c.2942C>T (p.Pro981Leu)
c.7769C>T (p.Pro2590Leu)
c.4364C>T (p.Pro1455Leu)
c.7601C>T (p.Pro2534Leu)
c.2547C>T
c.2774C>T (p.Pro925Leu)
n.2347C>T
c.7796C>T (p.Pro2599Leu)
c.7787C>T (p.Pro2596Leu)
c.7778C>T (p.Pro2593Leu)
c.7664C>T (p.Pro2555Leu)
c.7499C>T (p.Pro2500Leu)
c.5648C>T (p.Pro1883Leu)
c.3338C>T (p.Pro1113Leu)
n.8037C>T
18g.23915414T>ACA503339724LAMA3c.2943T>A (p.Pro981=)
c.7770T>A (p.Pro2590=)
c.4365T>A (p.Pro1455=)
c.7602T>A (p.Pro2534=)
c.2548T>A
c.2775T>A (p.Pro925=)
n.2348T>A
c.7797T>A (p.Pro2599=)
c.7788T>A (p.Pro2596=)
c.7779T>A (p.Pro2593=)
c.7665T>A (p.Pro2555=)
c.7500T>A (p.Pro2500=)
c.5649T>A (p.Pro1883=)
c.3339T>A (p.Pro1113=)
n.8038T>A
18g.23915414T>CCA503339725LAMA3c.2943T>C (p.Pro981=)
c.7770T>C (p.Pro2590=)
c.4365T>C (p.Pro1455=)
c.7602T>C (p.Pro2534=)
c.2548T>C
c.2775T>C (p.Pro925=)
n.2348T>C
c.7797T>C (p.Pro2599=)
c.7788T>C (p.Pro2596=)
c.7779T>C (p.Pro2593=)
c.7665T>C (p.Pro2555=)
c.7500T>C (p.Pro2500=)
c.5649T>C (p.Pro1883=)
c.3339T>C (p.Pro1113=)
n.8038T>C
 gnomAD v4
18g.23915414T>GCA503339726LAMA3c.2943T>G (p.Pro981=)
c.7770T>G (p.Pro2590=)
c.4365T>G (p.Pro1455=)
c.7602T>G (p.Pro2534=)
c.2548T>G
c.2775T>G (p.Pro925=)
n.2348T>G
c.7797T>G (p.Pro2599=)
c.7788T>G (p.Pro2596=)
c.7779T>G (p.Pro2593=)
c.7665T>G (p.Pro2555=)
c.7500T>G (p.Pro2500=)
c.5649T>G (p.Pro1883=)
c.3339T>G (p.Pro1113=)
n.8038T>G
18g.23915415T>ACA402059373LAMA3c.2944T>A (p.Cys982Ser)
c.7771T>A (p.Cys2591Ser)
c.4366T>A (p.Cys1456Ser)
c.7603T>A (p.Cys2535Ser)
c.2549T>A
c.2776T>A (p.Cys926Ser)
n.2349T>A
c.7798T>A (p.Cys2600Ser)
c.7789T>A (p.Cys2597Ser)
c.7780T>A (p.Cys2594Ser)
c.7666T>A (p.Cys2556Ser)
c.7501T>A (p.Cys2501Ser)
c.5650T>A (p.Cys1884Ser)
c.3340T>A (p.Cys1114Ser)
n.8039T>A
18g.23915415T>CCA402059374LAMA3c.2944T>C (p.Cys982Arg)
c.7771T>C (p.Cys2591Arg)
c.4366T>C (p.Cys1456Arg)
c.7603T>C (p.Cys2535Arg)
c.2549T>C
c.2776T>C (p.Cys926Arg)
n.2349T>C
c.7798T>C (p.Cys2600Arg)
c.7789T>C (p.Cys2597Arg)
c.7780T>C (p.Cys2594Arg)
c.7666T>C (p.Cys2556Arg)
c.7501T>C (p.Cys2501Arg)
c.5650T>C (p.Cys1884Arg)
c.3340T>C (p.Cys1114Arg)
n.8039T>C
18g.23915415T>GCA402059375LAMA3c.2944T>G (p.Cys982Gly)
c.7771T>G (p.Cys2591Gly)
c.4366T>G (p.Cys1456Gly)
c.7603T>G (p.Cys2535Gly)
c.2549T>G
c.2776T>G (p.Cys926Gly)
n.2349T>G
c.7798T>G (p.Cys2600Gly)
c.7789T>G (p.Cys2597Gly)
c.7780T>G (p.Cys2594Gly)
c.7666T>G (p.Cys2556Gly)
c.7501T>G (p.Cys2501Gly)
c.5650T>G (p.Cys1884Gly)
c.3340T>G (p.Cys1114Gly)
n.8039T>G
18g.23915416G>ACA402059376LAMA3c.2945G>A (p.Cys982Tyr)
c.7772G>A (p.Cys2591Tyr)
c.4367G>A (p.Cys1456Tyr)
c.7604G>A (p.Cys2535Tyr)
c.2550G>A
c.2777G>A (p.Cys926Tyr)
n.2350G>A
c.7799G>A (p.Cys2600Tyr)
c.7790G>A (p.Cys2597Tyr)
c.7781G>A (p.Cys2594Tyr)
c.7667G>A (p.Cys2556Tyr)
c.7502G>A (p.Cys2501Tyr)
c.5651G>A (p.Cys1884Tyr)
c.3341G>A (p.Cys1114Tyr)
n.8040G>A
 COSMIC
18g.23915416G>CCA402059377LAMA3c.2945G>C (p.Cys982Ser)
c.7772G>C (p.Cys2591Ser)
c.4367G>C (p.Cys1456Ser)
c.7604G>C (p.Cys2535Ser)
c.2550G>C
c.2777G>C (p.Cys926Ser)
n.2350G>C
c.7799G>C (p.Cys2600Ser)
c.7790G>C (p.Cys2597Ser)
c.7781G>C (p.Cys2594Ser)
c.7667G>C (p.Cys2556Ser)
c.7502G>C (p.Cys2501Ser)
c.5651G>C (p.Cys1884Ser)
c.3341G>C (p.Cys1114Ser)
n.8040G>C
18g.23915416G>TCA402059378LAMA3c.2945G>T (p.Cys982Phe)
c.7772G>T (p.Cys2591Phe)
c.4367G>T (p.Cys1456Phe)
c.7604G>T (p.Cys2535Phe)
c.2550G>T
c.2777G>T (p.Cys926Phe)
n.2350G>T
c.7799G>T (p.Cys2600Phe)
c.7790G>T (p.Cys2597Phe)
c.7781G>T (p.Cys2594Phe)
c.7667G>T (p.Cys2556Phe)
c.7502G>T (p.Cys2501Phe)
c.5651G>T (p.Cys1884Phe)
c.3341G>T (p.Cys1114Phe)
n.8040G>T
18g.23915417T>ACA402059379LAMA3c.2946T>A (p.Cys982Ter)
c.7773T>A (p.Cys2591Ter)
c.4368T>A (p.Cys1456Ter)
c.7605T>A (p.Cys2535Ter)
c.2551T>A
c.2778T>A (p.Cys926Ter)
n.2351T>A
c.7800T>A (p.Cys2600Ter)
c.7791T>A (p.Cys2597Ter)
c.7782T>A (p.Cys2594Ter)
c.7668T>A (p.Cys2556Ter)
c.7503T>A (p.Cys2501Ter)
c.5652T>A (p.Cys1884Ter)
c.3342T>A (p.Cys1114Ter)
n.8041T>A
18g.23915417T>CCA503339727LAMA3c.2946T>C (p.Cys982=)
c.7773T>C (p.Cys2591=)
c.4368T>C (p.Cys1456=)
c.7605T>C (p.Cys2535=)
c.2551T>C
c.2778T>C (p.Cys926=)
n.2351T>C
c.7800T>C (p.Cys2600=)
c.7791T>C (p.Cys2597=)
c.7782T>C (p.Cys2594=)
c.7668T>C (p.Cys2556=)
c.7503T>C (p.Cys2501=)
c.5652T>C (p.Cys1884=)
c.3342T>C (p.Cys1114=)
n.8041T>C
 ClinVar dbSNP gnomAD v4
18g.23915417T>GCA402059380LAMA3c.2946T>G (p.Cys982Trp)
c.7773T>G (p.Cys2591Trp)
c.4368T>G (p.Cys1456Trp)
c.7605T>G (p.Cys2535Trp)
c.2551T>G
c.2778T>G (p.Cys926Trp)
n.2351T>G
c.7800T>G (p.Cys2600Trp)
c.7791T>G (p.Cys2597Trp)
c.7782T>G (p.Cys2594Trp)
c.7668T>G (p.Cys2556Trp)
c.7503T>G (p.Cys2501Trp)
c.5652T>G (p.Cys1884Trp)
c.3342T>G (p.Cys1114Trp)
n.8041T>G
18g.23915417T=CA2290329010LAMA3c.2946T= (p.Cys982=)
c.7773T= (p.Cys2591=)
c.4368T= (p.Cys1456=)
c.7605T= (p.Cys2535=)
c.2551T=
c.2778T= (p.Cys926=)
n.2351T=
c.7800T= (p.Cys2600=)
c.7791T= (p.Cys2597=)
c.7782T= (p.Cys2594=)
c.7668T= (p.Cys2556=)
c.7503T= (p.Cys2501=)
c.5652T= (p.Cys1884=)
c.3342T= (p.Cys1114=)
n.8041T=
18g.23915418A=CA2290329011LAMA3c.2947A= (p.Arg983=)
c.7774A= (p.Arg2592=)
c.4369A= (p.Arg1457=)
c.7606A= (p.Arg2536=)
c.2552A=
c.2779A= (p.Arg927=)
n.2352A=
c.7801A= (p.Arg2601=)
c.7792A= (p.Arg2598=)
c.7783A= (p.Arg2595=)
c.7669A= (p.Arg2557=)
c.7504A= (p.Arg2502=)
c.5653A= (p.Arg1885=)
c.3343A= (p.Arg1115=)
n.8042A=
18g.23915418A>CCA503339728LAMA3c.2947A>C (p.Arg983=)
c.7774A>C (p.Arg2592=)
c.4369A>C (p.Arg1457=)
c.7606A>C (p.Arg2536=)
c.2552A>C
c.2779A>C (p.Arg927=)
n.2352A>C
c.7801A>C (p.Arg2601=)
c.7792A>C (p.Arg2598=)
c.7783A>C (p.Arg2595=)
c.7669A>C (p.Arg2557=)
c.7504A>C (p.Arg2502=)
c.5653A>C (p.Arg1885=)
c.3343A>C (p.Arg1115=)
n.8042A>C
18g.23915418A>GCA402059382LAMA3c.2947A>G (p.Arg983Gly)
c.7774A>G (p.Arg2592Gly)
c.4369A>G (p.Arg1457Gly)
c.7606A>G (p.Arg2536Gly)
c.2552A>G
c.2779A>G (p.Arg927Gly)
n.2352A>G
c.7801A>G (p.Arg2601Gly)
c.7792A>G (p.Arg2598Gly)
c.7783A>G (p.Arg2595Gly)
c.7669A>G (p.Arg2557Gly)
c.7504A>G (p.Arg2502Gly)
c.5653A>G (p.Arg1885Gly)
c.3343A>G (p.Arg1115Gly)
n.8042A>G
 dbSNP
18g.23915418A>TCA402059381LAMA3c.2947A>T (p.Arg983Ter)
c.7774A>T (p.Arg2592Ter)
c.4369A>T (p.Arg1457Ter)
c.7606A>T (p.Arg2536Ter)
c.2552A>T
c.2779A>T (p.Arg927Ter)
n.2352A>T
c.7801A>T (p.Arg2601Ter)
c.7792A>T (p.Arg2598Ter)
c.7783A>T (p.Arg2595Ter)
c.7669A>T (p.Arg2557Ter)
c.7504A>T (p.Arg2502Ter)
c.5653A>T (p.Arg1885Ter)
c.3343A>T (p.Arg1115Ter)
n.8042A>T
18g.23915419G>ACA402059383LAMA3c.2948G>A (p.Arg983Lys)
c.7775G>A (p.Arg2592Lys)
c.4370G>A (p.Arg1457Lys)
c.7607G>A (p.Arg2536Lys)
c.2553G>A
c.2780G>A (p.Arg927Lys)
n.2353G>A
c.7802G>A (p.Arg2601Lys)
c.7793G>A (p.Arg2598Lys)
c.7784G>A (p.Arg2595Lys)
c.7670G>A (p.Arg2557Lys)
c.7505G>A (p.Arg2502Lys)
c.5654G>A (p.Arg1885Lys)
c.3344G>A (p.Arg1115Lys)
n.8043G>A
 COSMIC COSMIC
18g.23915419G>CCA402059385LAMA3c.2948G>C (p.Arg983Thr)
c.7775G>C (p.Arg2592Thr)
c.4370G>C (p.Arg1457Thr)
c.7607G>C (p.Arg2536Thr)
c.2553G>C
c.2780G>C (p.Arg927Thr)
n.2353G>C
c.7802G>C (p.Arg2601Thr)
c.7793G>C (p.Arg2598Thr)
c.7784G>C (p.Arg2595Thr)
c.7670G>C (p.Arg2557Thr)
c.7505G>C (p.Arg2502Thr)
c.5654G>C (p.Arg1885Thr)
c.3344G>C (p.Arg1115Thr)
n.8043G>C
18g.23915419G>TCA402059384LAMA3c.2948G>T (p.Arg983Ile)
c.7775G>T (p.Arg2592Ile)
c.4370G>T (p.Arg1457Ile)
c.7607G>T (p.Arg2536Ile)
c.2553G>T
c.2780G>T (p.Arg927Ile)
n.2353G>T
c.7802G>T (p.Arg2601Ile)
c.7793G>T (p.Arg2598Ile)
c.7784G>T (p.Arg2595Ile)
c.7670G>T (p.Arg2557Ile)
c.7505G>T (p.Arg2502Ile)
c.5654G>T (p.Arg1885Ile)
c.3344G>T (p.Arg1115Ile)
n.8043G>T
18g.23915420A>CCA402059386LAMA3c.2949A>C (p.Arg983Ser)
c.7776A>C (p.Arg2592Ser)
c.4371A>C (p.Arg1457Ser)
c.7608A>C (p.Arg2536Ser)
c.2554A>C
c.2781A>C (p.Arg927Ser)
n.2354A>C
c.7803A>C (p.Arg2601Ser)
c.7794A>C (p.Arg2598Ser)
c.7785A>C (p.Arg2595Ser)
c.7671A>C (p.Arg2557Ser)
c.7506A>C (p.Arg2502Ser)
c.5655A>C (p.Arg1885Ser)
c.3345A>C (p.Arg1115Ser)
n.8044A>C
18g.23915420A>GCA503339730LAMA3c.2949A>G (p.Arg983=)
c.7776A>G (p.Arg2592=)
c.4371A>G (p.Arg1457=)
c.7608A>G (p.Arg2536=)
c.2554A>G
c.2781A>G (p.Arg927=)
n.2354A>G
c.7803A>G (p.Arg2601=)
c.7794A>G (p.Arg2598=)
c.7785A>G (p.Arg2595=)
c.7671A>G (p.Arg2557=)
c.7506A>G (p.Arg2502=)
c.5655A>G (p.Arg1885=)
c.3345A>G (p.Arg1115=)
n.8044A>G
18g.23915420A>TCA402059387LAMA3c.2949A>T (p.Arg983Ser)
c.7776A>T (p.Arg2592Ser)
c.4371A>T (p.Arg1457Ser)
c.7608A>T (p.Arg2536Ser)
c.2554A>T
c.2781A>T (p.Arg927Ser)
n.2354A>T
c.7803A>T (p.Arg2601Ser)
c.7794A>T (p.Arg2598Ser)
c.7785A>T (p.Arg2595Ser)
c.7671A>T (p.Arg2557Ser)
c.7506A>T (p.Arg2502Ser)
c.5655A>T (p.Arg1885Ser)
c.3345A>T (p.Arg1115Ser)
n.8044A>T
18g.23915421A>CCA503339731LAMA3c.2950A>C (p.Arg984=)
c.7777A>C (p.Arg2593=)
c.4372A>C (p.Arg1458=)
c.7609A>C (p.Arg2537=)
c.2555A>C
c.2782A>C (p.Arg928=)
n.2355A>C
c.7804A>C (p.Arg2602=)
c.7795A>C (p.Arg2599=)
c.7786A>C (p.Arg2596=)
c.7672A>C (p.Arg2558=)
c.7507A>C (p.Arg2503=)
c.5656A>C (p.Arg1886=)
c.3346A>C (p.Arg1116=)
n.8045A>C
18g.23915421A>GCA402059388LAMA3c.2950A>G (p.Arg984Gly)
c.7777A>G (p.Arg2593Gly)
c.4372A>G (p.Arg1458Gly)
c.7609A>G (p.Arg2537Gly)
c.2555A>G
c.2782A>G (p.Arg928Gly)
n.2355A>G
c.7804A>G (p.Arg2602Gly)
c.7795A>G (p.Arg2599Gly)
c.7786A>G (p.Arg2596Gly)
c.7672A>G (p.Arg2558Gly)
c.7507A>G (p.Arg2503Gly)
c.5656A>G (p.Arg1886Gly)
c.3346A>G (p.Arg1116Gly)
n.8045A>G
18g.23915421A>TCA402059389LAMA3c.2950A>T (p.Arg984Trp)
c.7777A>T (p.Arg2593Trp)
c.4372A>T (p.Arg1458Trp)
c.7609A>T (p.Arg2537Trp)
c.2555A>T
c.2782A>T (p.Arg928Trp)
n.2355A>T
c.7804A>T (p.Arg2602Trp)
c.7795A>T (p.Arg2599Trp)
c.7786A>T (p.Arg2596Trp)
c.7672A>T (p.Arg2558Trp)
c.7507A>T (p.Arg2503Trp)
c.5656A>T (p.Arg1886Trp)
c.3346A>T (p.Arg1116Trp)
n.8045A>T
18g.23915422G>ACA402059390LAMA3c.2951G>A (p.Arg984Lys)
c.7778G>A (p.Arg2593Lys)
c.4373G>A (p.Arg1458Lys)
c.7610G>A (p.Arg2537Lys)
c.2556G>A
c.2783G>A (p.Arg928Lys)
n.2356G>A
c.7805G>A (p.Arg2602Lys)
c.7796G>A (p.Arg2599Lys)
c.7787G>A (p.Arg2596Lys)
c.7673G>A (p.Arg2558Lys)
c.7508G>A (p.Arg2503Lys)
c.5657G>A (p.Arg1886Lys)
c.3347G>A (p.Arg1116Lys)
n.8046G>A
 dbSNP
18g.23915422G>CCA402059391LAMA3c.2951G>C (p.Arg984Thr)
c.7778G>C (p.Arg2593Thr)
c.4373G>C (p.Arg1458Thr)
c.7610G>C (p.Arg2537Thr)
c.2556G>C
c.2783G>C (p.Arg928Thr)
n.2356G>C
c.7805G>C (p.Arg2602Thr)
c.7796G>C (p.Arg2599Thr)
c.7787G>C (p.Arg2596Thr)
c.7673G>C (p.Arg2558Thr)
c.7508G>C (p.Arg2503Thr)
c.5657G>C (p.Arg1886Thr)
c.3347G>C (p.Arg1116Thr)
n.8046G>C
18g.23915422G=CA2290329013LAMA3c.2951G= (p.Arg984=)
c.7778G= (p.Arg2593=)
c.4373G= (p.Arg1458=)
c.7610G= (p.Arg2537=)
c.2556G=
c.2783G= (p.Arg928=)
n.2356G=
c.7805G= (p.Arg2602=)
c.7796G= (p.Arg2599=)
c.7787G= (p.Arg2596=)
c.7673G= (p.Arg2558=)
c.7508G= (p.Arg2503=)
c.5657G= (p.Arg1886=)
c.3347G= (p.Arg1116=)
n.8046G=
18g.23915422G>TCA402059392LAMA3c.2951G>T (p.Arg984Met)
c.7778G>T (p.Arg2593Met)
c.4373G>T (p.Arg1458Met)
c.7610G>T (p.Arg2537Met)
c.2556G>T
c.2783G>T (p.Arg928Met)
n.2356G>T
c.7805G>T (p.Arg2602Met)
c.7796G>T (p.Arg2599Met)
c.7787G>T (p.Arg2596Met)
c.7673G>T (p.Arg2558Met)
c.7508G>T (p.Arg2503Met)
c.5657G>T (p.Arg1886Met)
c.3347G>T (p.Arg1116Met)
n.8046G>T
 gnomAD v4
18g.23915423G>ACA402059393LAMA3c.2951+1G>A (n.2951+1G>A)
c.7778+1G>A (n.7778+1G>A)
c.4373+1G>A (n.4373+1G>A)
c.7610+1G>A (n.7610+1G>A)
c.2556+1G>A
c.2783+1G>A (n.2783+1G>A)
n.2356+1G>A
c.7805+1G>A (n.7805+1G>A)
c.7796+1G>A (n.7796+1G>A)
c.7787+1G>A (n.7787+1G>A)
c.7673+1G>A (n.7673+1G>A)
c.7508+1G>A (n.7508+1G>A)
c.5657+1G>A (n.5657+1G>A)
c.3347+1G>A (n.3347+1G>A)
n.8046+1G>A
 ClinVar dbSNP
18g.23915423G>CCA402059394LAMA3c.2951+1G>C (n.2951+1G>C)
c.7778+1G>C (n.7778+1G>C)
c.4373+1G>C (n.4373+1G>C)
c.7610+1G>C (n.7610+1G>C)
c.2556+1G>C
c.2783+1G>C (n.2783+1G>C)
n.2356+1G>C
c.7805+1G>C (n.7805+1G>C)
c.7796+1G>C (n.7796+1G>C)
c.7787+1G>C (n.7787+1G>C)
c.7673+1G>C (n.7673+1G>C)
c.7508+1G>C (n.7508+1G>C)
c.5657+1G>C (n.5657+1G>C)
c.3347+1G>C (n.3347+1G>C)
n.8046+1G>C
18g.23915423G>TCA402059395LAMA3c.2951+1G>T (n.2951+1G>T)
c.7778+1G>T (n.7778+1G>T)
c.4373+1G>T (n.4373+1G>T)
c.7610+1G>T (n.7610+1G>T)
c.2556+1G>T
c.2783+1G>T (n.2783+1G>T)
n.2356+1G>T
c.7805+1G>T (n.7805+1G>T)
c.7796+1G>T (n.7796+1G>T)
c.7787+1G>T (n.7787+1G>T)
c.7673+1G>T (n.7673+1G>T)
c.7508+1G>T (n.7508+1G>T)
c.5657+1G>T (n.5657+1G>T)
c.3347+1G>T (n.3347+1G>T)
n.8046+1G>T
18g.23915424T>ACA402059396LAMA3c.2951+2T>A (n.2951+2T>A)
c.7778+2T>A (n.7778+2T>A)
c.4373+2T>A (n.4373+2T>A)
c.7610+2T>A (n.7610+2T>A)
c.2556+2T>A
c.2783+2T>A (n.2783+2T>A)
n.2356+2T>A
c.7805+2T>A (n.7805+2T>A)
c.7796+2T>A (n.7796+2T>A)
c.7787+2T>A (n.7787+2T>A)
c.7673+2T>A (n.7673+2T>A)
c.7508+2T>A (n.7508+2T>A)
c.5657+2T>A (n.5657+2T>A)
c.3347+2T>A (n.3347+2T>A)
n.8046+2T>A
18g.23915424T>CCA402059397LAMA3c.2951+2T>C (n.2951+2T>C)
c.7778+2T>C (n.7778+2T>C)
c.4373+2T>C (n.4373+2T>C)
c.7610+2T>C (n.7610+2T>C)
c.2556+2T>C
c.2783+2T>C (n.2783+2T>C)
n.2356+2T>C
c.7805+2T>C (n.7805+2T>C)
c.7796+2T>C (n.7796+2T>C)
c.7787+2T>C (n.7787+2T>C)
c.7673+2T>C (n.7673+2T>C)
c.7508+2T>C (n.7508+2T>C)
c.5657+2T>C (n.5657+2T>C)
c.3347+2T>C (n.3347+2T>C)
n.8046+2T>C
18g.23915424T>GCA402059398LAMA3c.2951+2T>G (n.2951+2T>G)
c.7778+2T>G (n.7778+2T>G)
c.4373+2T>G (n.4373+2T>G)
c.7610+2T>G (n.7610+2T>G)
c.2556+2T>G
c.2783+2T>G (n.2783+2T>G)
n.2356+2T>G
c.7805+2T>G (n.7805+2T>G)
c.7796+2T>G (n.7796+2T>G)
c.7787+2T>G (n.7787+2T>G)
c.7673+2T>G (n.7673+2T>G)
c.7508+2T>G (n.7508+2T>G)
c.5657+2T>G (n.5657+2T>G)
c.3347+2T>G (n.3347+2T>G)
n.8046+2T>G
 gnomAD v4
18g.23915425A=CA2290329014LAMA3c.2951+3A= (n.2951+3A=)
c.7778+3A= (n.7778+3A=)
c.4373+3A= (n.4373+3A=)
c.7610+3A= (n.7610+3A=)
c.2556+3A=
c.2783+3A= (n.2783+3A=)
n.2356+3A=
c.7805+3A= (n.7805+3A=)
c.7796+3A= (n.7796+3A=)
c.7787+3A= (n.7787+3A=)
c.7673+3A= (n.7673+3A=)
c.7508+3A= (n.7508+3A=)
c.5657+3A= (n.5657+3A=)
c.3347+3A= (n.3347+3A=)
n.8046+3A=
18g.23915426A>GCA2641297068LAMA3c.2951+4A>G (n.2951+4A>G)
c.7778+4A>G (n.7778+4A>G)
c.4373+4A>G (n.4373+4A>G)
c.7610+4A>G (n.7610+4A>G)
c.2556+4A>G
c.2783+4A>G (n.2783+4A>G)
n.2356+4A>G
c.7805+4A>G (n.7805+4A>G)
c.7796+4A>G (n.7796+4A>G)
c.7787+4A>G (n.7787+4A>G)
c.7673+4A>G (n.7673+4A>G)
c.7508+4A>G (n.7508+4A>G)
c.5657+4A>G (n.5657+4A>G)
c.3347+4A>G (n.3347+4A>G)
n.8046+4A>G
 gnomAD v4
18g.23915427_23915485dupCA628685390LAMA3c.2951+5_2951+63dup (n.2951+5_2951+63dup)
c.7778+5_7778+63dup (n.7778+5_7778+63dup)
c.4373+5_4373+63dup (n.4373+5_4373+63dup)
c.7610+5_7610+63dup (n.7610+5_7610+63dup)
c.2556+5_2556+63dup
c.2783+5_2783+63dup (n.2783+5_2783+63dup)
n.2356+5_2356+63dup
c.7805+5_7805+63dup (n.7805+5_7805+63dup)
c.7796+5_7796+63dup (n.7796+5_7796+63dup)
c.7787+5_7787+63dup (n.7787+5_7787+63dup)
c.7673+5_7673+63dup (n.7673+5_7673+63dup)
c.7508+5_7508+63dup (n.7508+5_7508+63dup)
c.5657+5_5657+63dup (n.5657+5_5657+63dup)
c.3347+5_3347+63dup (n.3347+5_3347+63dup)
n.8046+5_8046+63dup
 dbSNP gnomAD v2 gnomAD v4
18g.23915427A>GCA2576473151LAMA3c.2951+5A>G (n.2951+5A>G)
c.7778+5A>G (n.7778+5A>G)
c.4373+5A>G (n.4373+5A>G)
c.7610+5A>G (n.7610+5A>G)
c.2556+5A>G
c.2783+5A>G (n.2783+5A>G)
n.2356+5A>G
c.7805+5A>G (n.7805+5A>G)
c.7796+5A>G (n.7796+5A>G)
c.7787+5A>G (n.7787+5A>G)
c.7673+5A>G (n.7673+5A>G)
c.7508+5A>G (n.7508+5A>G)
c.5657+5A>G (n.5657+5A>G)
c.3347+5A>G (n.3347+5A>G)
n.8046+5A>G
18g.23915428T>CCA2641297069LAMA3c.2951+6T>C (n.2951+6T>C)
c.7778+6T>C (n.7778+6T>C)
c.4373+6T>C (n.4373+6T>C)
c.7610+6T>C (n.7610+6T>C)
c.2556+6T>C
c.2783+6T>C (n.2783+6T>C)
n.2356+6T>C
c.7805+6T>C (n.7805+6T>C)
c.7796+6T>C (n.7796+6T>C)
c.7787+6T>C (n.7787+6T>C)
c.7673+6T>C (n.7673+6T>C)
c.7508+6T>C (n.7508+6T>C)
c.5657+6T>C (n.5657+6T>C)
c.3347+6T>C (n.3347+6T>C)
n.8046+6T>C
 gnomAD v4
18g.23915429A>CCA2641297070LAMA3c.2951+7A>C (n.2951+7A>C)
c.7778+7A>C (n.7778+7A>C)
c.4373+7A>C (n.4373+7A>C)
c.7610+7A>C (n.7610+7A>C)
c.2556+7A>C
c.2783+7A>C (n.2783+7A>C)
n.2356+7A>C
c.7805+7A>C (n.7805+7A>C)
c.7796+7A>C (n.7796+7A>C)
c.7787+7A>C (n.7787+7A>C)
c.7673+7A>C (n.7673+7A>C)
c.7508+7A>C (n.7508+7A>C)
c.5657+7A>C (n.5657+7A>C)
c.3347+7A>C (n.3347+7A>C)
n.8046+7A>C
 gnomAD v4
18g.23915434G>ACA8916740LAMA3c.2951+12G>A (n.2951+12G>A)
c.7778+12G>A (n.7778+12G>A)
c.4373+12G>A (n.4373+12G>A)
c.7610+12G>A (n.7610+12G>A)
c.2556+12G>A
c.2783+12G>A (n.2783+12G>A)
n.2356+12G>A
c.7805+12G>A (n.7805+12G>A)
c.7796+12G>A (n.7796+12G>A)
c.7787+12G>A (n.7787+12G>A)
c.7673+12G>A (n.7673+12G>A)
c.7508+12G>A (n.7508+12G>A)
c.5657+12G>A (n.5657+12G>A)
c.3347+12G>A (n.3347+12G>A)
n.8046+12G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915434G>CCA2734227365LAMA3c.2951+12G>C (n.2951+12G>C)
c.7778+12G>C (n.7778+12G>C)
c.4373+12G>C (n.4373+12G>C)
c.7610+12G>C (n.7610+12G>C)
c.2556+12G>C
c.2783+12G>C (n.2783+12G>C)
n.2356+12G>C
c.7805+12G>C (n.7805+12G>C)
c.7796+12G>C (n.7796+12G>C)
c.7787+12G>C (n.7787+12G>C)
c.7673+12G>C (n.7673+12G>C)
c.7508+12G>C (n.7508+12G>C)
c.5657+12G>C (n.5657+12G>C)
c.3347+12G>C (n.3347+12G>C)
n.8046+12G>C
 ClinVar dbSNP
18g.23915434G=CA2290329016LAMA3c.2951+12G= (n.2951+12G=)
c.7778+12G= (n.7778+12G=)
c.4373+12G= (n.4373+12G=)
c.7610+12G= (n.7610+12G=)
c.2556+12G=
c.2783+12G= (n.2783+12G=)
n.2356+12G=
c.7805+12G= (n.7805+12G=)
c.7796+12G= (n.7796+12G=)
c.7787+12G= (n.7787+12G=)
c.7673+12G= (n.7673+12G=)
c.7508+12G= (n.7508+12G=)
c.5657+12G= (n.5657+12G=)
c.3347+12G= (n.3347+12G=)
n.8046+12G=
18g.23915434G>TCA297109664LAMA3c.2951+12G>T (n.2951+12G>T)
c.7778+12G>T (n.7778+12G>T)
c.4373+12G>T (n.4373+12G>T)
c.7610+12G>T (n.7610+12G>T)
c.2556+12G>T
c.2783+12G>T (n.2783+12G>T)
n.2356+12G>T
c.7805+12G>T (n.7805+12G>T)
c.7796+12G>T (n.7796+12G>T)
c.7787+12G>T (n.7787+12G>T)
c.7673+12G>T (n.7673+12G>T)
c.7508+12G>T (n.7508+12G>T)
c.5657+12G>T (n.5657+12G>T)
c.3347+12G>T (n.3347+12G>T)
n.8046+12G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23915435T>ACA2811822940LAMA3c.2951+13T>A (n.2951+13T>A)
c.7778+13T>A (n.7778+13T>A)
c.4373+13T>A (n.4373+13T>A)
c.7610+13T>A (n.7610+13T>A)
c.2556+13T>A
c.2783+13T>A (n.2783+13T>A)
n.2356+13T>A
c.7805+13T>A (n.7805+13T>A)
c.7796+13T>A (n.7796+13T>A)
c.7787+13T>A (n.7787+13T>A)
c.7673+13T>A (n.7673+13T>A)
c.7508+13T>A (n.7508+13T>A)
c.5657+13T>A (n.5657+13T>A)
c.3347+13T>A (n.3347+13T>A)
n.8046+13T>A
18g.23915436A>GCA2641297091LAMA3c.2951+14A>G (n.2951+14A>G)
c.7778+14A>G (n.7778+14A>G)
c.4373+14A>G (n.4373+14A>G)
c.7610+14A>G (n.7610+14A>G)
c.2556+14A>G
c.2783+14A>G (n.2783+14A>G)
n.2356+14A>G
c.7805+14A>G (n.7805+14A>G)
c.7796+14A>G (n.7796+14A>G)
c.7787+14A>G (n.7787+14A>G)
c.7673+14A>G (n.7673+14A>G)
c.7508+14A>G (n.7508+14A>G)
c.5657+14A>G (n.5657+14A>G)
c.3347+14A>G (n.3347+14A>G)
n.8046+14A>G
 gnomAD v4
18g.23915437G>ACA2811822941LAMA3c.2951+15G>A (n.2951+15G>A)
c.7778+15G>A (n.7778+15G>A)
c.4373+15G>A (n.4373+15G>A)
c.7610+15G>A (n.7610+15G>A)
c.2556+15G>A
c.2783+15G>A (n.2783+15G>A)
n.2356+15G>A
c.7805+15G>A (n.7805+15G>A)
c.7796+15G>A (n.7796+15G>A)
c.7787+15G>A (n.7787+15G>A)
c.7673+15G>A (n.7673+15G>A)
c.7508+15G>A (n.7508+15G>A)
c.5657+15G>A (n.5657+15G>A)
c.3347+15G>A (n.3347+15G>A)
n.8046+15G>A
18g.23915437G>CCA2641297092LAMA3c.2951+15G>C (n.2951+15G>C)
c.7778+15G>C (n.7778+15G>C)
c.4373+15G>C (n.4373+15G>C)
c.7610+15G>C (n.7610+15G>C)
c.2556+15G>C
c.2783+15G>C (n.2783+15G>C)
n.2356+15G>C
c.7805+15G>C (n.7805+15G>C)
c.7796+15G>C (n.7796+15G>C)
c.7787+15G>C (n.7787+15G>C)
c.7673+15G>C (n.7673+15G>C)
c.7508+15G>C (n.7508+15G>C)
c.5657+15G>C (n.5657+15G>C)
c.3347+15G>C (n.3347+15G>C)
n.8046+15G>C
 gnomAD v4
18g.23915439A>GCA2576473152LAMA3c.2951+17A>G (n.2951+17A>G)
c.7778+17A>G (n.7778+17A>G)
c.4373+17A>G (n.4373+17A>G)
c.7610+17A>G (n.7610+17A>G)
c.2556+17A>G
c.2783+17A>G (n.2783+17A>G)
n.2356+17A>G
c.7805+17A>G (n.7805+17A>G)
c.7796+17A>G (n.7796+17A>G)
c.7787+17A>G (n.7787+17A>G)
c.7673+17A>G (n.7673+17A>G)
c.7508+17A>G (n.7508+17A>G)
c.5657+17A>G (n.5657+17A>G)
c.3347+17A>G (n.3347+17A>G)
n.8046+17A>G
18g.23915441C>ACA777729089LAMA3c.2951+19C>A (n.2951+19C>A)
c.7778+19C>A (n.7778+19C>A)
c.4373+19C>A (n.4373+19C>A)
c.7610+19C>A (n.7610+19C>A)
c.2556+19C>A
c.2783+19C>A (n.2783+19C>A)
n.2356+19C>A
c.7805+19C>A (n.7805+19C>A)
c.7796+19C>A (n.7796+19C>A)
c.7787+19C>A (n.7787+19C>A)
c.7673+19C>A (n.7673+19C>A)
c.7508+19C>A (n.7508+19C>A)
c.5657+19C>A (n.5657+19C>A)
c.3347+19C>A (n.3347+19C>A)
n.8046+19C>A
 ClinVar dbSNP
18g.23915441C=CA2290329018LAMA3c.2951+19C= (n.2951+19C=)
c.7778+19C= (n.7778+19C=)
c.4373+19C= (n.4373+19C=)
c.7610+19C= (n.7610+19C=)
c.2556+19C=
c.2783+19C= (n.2783+19C=)
n.2356+19C=
c.7805+19C= (n.7805+19C=)
c.7796+19C= (n.7796+19C=)
c.7787+19C= (n.7787+19C=)
c.7673+19C= (n.7673+19C=)
c.7508+19C= (n.7508+19C=)
c.5657+19C= (n.5657+19C=)
c.3347+19C= (n.3347+19C=)
n.8046+19C=
18g.23915441C>GCA2697555324LAMA3c.2951+19C>G (n.2951+19C>G)
c.7778+19C>G (n.7778+19C>G)
c.4373+19C>G (n.4373+19C>G)
c.7610+19C>G (n.7610+19C>G)
c.2556+19C>G
c.2783+19C>G (n.2783+19C>G)
n.2356+19C>G
c.7805+19C>G (n.7805+19C>G)
c.7796+19C>G (n.7796+19C>G)
c.7787+19C>G (n.7787+19C>G)
c.7673+19C>G (n.7673+19C>G)
c.7508+19C>G (n.7508+19C>G)
c.5657+19C>G (n.5657+19C>G)
c.3347+19C>G (n.3347+19C>G)
n.8046+19C>G
 ClinVar
18g.23915441C>TCA777729094LAMA3c.2951+19C>T (n.2951+19C>T)
c.7778+19C>T (n.7778+19C>T)
c.4373+19C>T (n.4373+19C>T)
c.7610+19C>T (n.7610+19C>T)
c.2556+19C>T
c.2783+19C>T (n.2783+19C>T)
n.2356+19C>T
c.7805+19C>T (n.7805+19C>T)
c.7796+19C>T (n.7796+19C>T)
c.7787+19C>T (n.7787+19C>T)
c.7673+19C>T (n.7673+19C>T)
c.7508+19C>T (n.7508+19C>T)
c.5657+19C>T (n.5657+19C>T)
c.3347+19C>T (n.3347+19C>T)
n.8046+19C>T
 ClinVar dbSNP gnomAD v4
18g.23915442C>TCA2739268594LAMA3c.2951+20C>T (n.2951+20C>T)
c.7778+20C>T (n.7778+20C>T)
c.4373+20C>T (n.4373+20C>T)
c.7610+20C>T (n.7610+20C>T)
c.2556+20C>T
c.2783+20C>T (n.2783+20C>T)
n.2356+20C>T
c.7805+20C>T (n.7805+20C>T)
c.7796+20C>T (n.7796+20C>T)
c.7787+20C>T (n.7787+20C>T)
c.7673+20C>T (n.7673+20C>T)
c.7508+20C>T (n.7508+20C>T)
c.5657+20C>T (n.5657+20C>T)
c.3347+20C>T (n.3347+20C>T)
n.8046+20C>T
 ClinVar
18g.23915443A>GCA2641297100LAMA3c.2951+21A>G (n.2951+21A>G)
c.7778+21A>G (n.7778+21A>G)
c.4373+21A>G (n.4373+21A>G)
c.7610+21A>G (n.7610+21A>G)
c.2556+21A>G
c.2783+21A>G (n.2783+21A>G)
n.2356+21A>G
c.7805+21A>G (n.7805+21A>G)
c.7796+21A>G (n.7796+21A>G)
c.7787+21A>G (n.7787+21A>G)
c.7673+21A>G (n.7673+21A>G)
c.7508+21A>G (n.7508+21A>G)
c.5657+21A>G (n.5657+21A>G)
c.3347+21A>G (n.3347+21A>G)
n.8046+21A>G
 gnomAD v4
18g.23915444G=CA2290329019LAMA3c.2951+22G= (n.2951+22G=)
c.7778+22G= (n.7778+22G=)
c.4373+22G= (n.4373+22G=)
c.7610+22G= (n.7610+22G=)
c.2556+22G=
c.2783+22G= (n.2783+22G=)
n.2356+22G=
c.7805+22G= (n.7805+22G=)
c.7796+22G= (n.7796+22G=)
c.7787+22G= (n.7787+22G=)
c.7673+22G= (n.7673+22G=)
c.7508+22G= (n.7508+22G=)
c.5657+22G= (n.5657+22G=)
c.3347+22G= (n.3347+22G=)
n.8046+22G=
18g.23915444G>TCA628685391LAMA3c.2951+22G>T (n.2951+22G>T)
c.7778+22G>T (n.7778+22G>T)
c.4373+22G>T (n.4373+22G>T)
c.7610+22G>T (n.7610+22G>T)
c.2556+22G>T
c.2783+22G>T (n.2783+22G>T)
n.2356+22G>T
c.7805+22G>T (n.7805+22G>T)
c.7796+22G>T (n.7796+22G>T)
c.7787+22G>T (n.7787+22G>T)
c.7673+22G>T (n.7673+22G>T)
c.7508+22G>T (n.7508+22G>T)
c.5657+22G>T (n.5657+22G>T)
c.3347+22G>T (n.3347+22G>T)
n.8046+22G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23915445A>CCA2641297104LAMA3c.2951+23A>C (n.2951+23A>C)
c.7778+23A>C (n.7778+23A>C)
c.4373+23A>C (n.4373+23A>C)
c.7610+23A>C (n.7610+23A>C)
c.2556+23A>C
c.2783+23A>C (n.2783+23A>C)
n.2356+23A>C
c.7805+23A>C (n.7805+23A>C)
c.7796+23A>C (n.7796+23A>C)
c.7787+23A>C (n.7787+23A>C)
c.7673+23A>C (n.7673+23A>C)
c.7508+23A>C (n.7508+23A>C)
c.5657+23A>C (n.5657+23A>C)
c.3347+23A>C (n.3347+23A>C)
n.8046+23A>C
 gnomAD v4
18g.23915445A>TCA2641297105LAMA3c.2951+23A>T (n.2951+23A>T)
c.7778+23A>T (n.7778+23A>T)
c.4373+23A>T (n.4373+23A>T)
c.7610+23A>T (n.7610+23A>T)
c.2556+23A>T
c.2783+23A>T (n.2783+23A>T)
n.2356+23A>T
c.7805+23A>T (n.7805+23A>T)
c.7796+23A>T (n.7796+23A>T)
c.7787+23A>T (n.7787+23A>T)
c.7673+23A>T (n.7673+23A>T)
c.7508+23A>T (n.7508+23A>T)
c.5657+23A>T (n.5657+23A>T)
c.3347+23A>T (n.3347+23A>T)
n.8046+23A>T
 gnomAD v4
18g.23915447delCA2641297103LAMA3c.2951+25del (n.2951+25del)
c.7778+25del (n.7778+25del)
c.4373+25del (n.4373+25del)
c.7610+25del (n.7610+25del)
c.2556+25del
c.2783+25del (n.2783+25del)
n.2356+25del
c.7805+25del (n.7805+25del)
c.7796+25del (n.7796+25del)
c.7787+25del (n.7787+25del)
c.7673+25del (n.7673+25del)
c.7508+25del (n.7508+25del)
c.5657+25del (n.5657+25del)
c.3347+25del (n.3347+25del)
n.8046+25del
 gnomAD v4
18g.23915446A=CA2290329020LAMA3c.2951+24A= (n.2951+24A=)
c.7778+24A= (n.7778+24A=)
c.4373+24A= (n.4373+24A=)
c.7610+24A= (n.7610+24A=)
c.2556+24A=
c.2783+24A= (n.2783+24A=)
n.2356+24A=
c.7805+24A= (n.7805+24A=)
c.7796+24A= (n.7796+24A=)
c.7787+24A= (n.7787+24A=)
c.7673+24A= (n.7673+24A=)
c.7508+24A= (n.7508+24A=)
c.5657+24A= (n.5657+24A=)
c.3347+24A= (n.3347+24A=)
n.8046+24A=
18g.23915446A>CCA2641297107LAMA3c.2951+24A>C (n.2951+24A>C)
c.7778+24A>C (n.7778+24A>C)
c.4373+24A>C (n.4373+24A>C)
c.7610+24A>C (n.7610+24A>C)
c.2556+24A>C
c.2783+24A>C (n.2783+24A>C)
n.2356+24A>C
c.7805+24A>C (n.7805+24A>C)
c.7796+24A>C (n.7796+24A>C)
c.7787+24A>C (n.7787+24A>C)
c.7673+24A>C (n.7673+24A>C)
c.7508+24A>C (n.7508+24A>C)
c.5657+24A>C (n.5657+24A>C)
c.3347+24A>C (n.3347+24A>C)
n.8046+24A>C
 gnomAD v4
18g.23915446A>GCA628685392LAMA3c.2951+24A>G (n.2951+24A>G)
c.7778+24A>G (n.7778+24A>G)
c.4373+24A>G (n.4373+24A>G)
c.7610+24A>G (n.7610+24A>G)
c.2556+24A>G
c.2783+24A>G (n.2783+24A>G)
n.2356+24A>G
c.7805+24A>G (n.7805+24A>G)
c.7796+24A>G (n.7796+24A>G)
c.7787+24A>G (n.7787+24A>G)
c.7673+24A>G (n.7673+24A>G)
c.7508+24A>G (n.7508+24A>G)
c.5657+24A>G (n.5657+24A>G)
c.3347+24A>G (n.3347+24A>G)
n.8046+24A>G
 dbSNP gnomAD v2 gnomAD v4
18g.23915447A>GCA2641297110LAMA3c.2951+25A>G (n.2951+25A>G)
c.7778+25A>G (n.7778+25A>G)
c.4373+25A>G (n.4373+25A>G)
c.7610+25A>G (n.7610+25A>G)
c.2556+25A>G
c.2783+25A>G (n.2783+25A>G)
n.2356+25A>G
c.7805+25A>G (n.7805+25A>G)
c.7796+25A>G (n.7796+25A>G)
c.7787+25A>G (n.7787+25A>G)
c.7673+25A>G (n.7673+25A>G)
c.7508+25A>G (n.7508+25A>G)
c.5657+25A>G (n.5657+25A>G)
c.3347+25A>G (n.3347+25A>G)
n.8046+25A>G
 gnomAD v4
18g.23915448C>ACA2641297112LAMA3c.2951+26C>A (n.2951+26C>A)
c.7778+26C>A (n.7778+26C>A)
c.4373+26C>A (n.4373+26C>A)
c.7610+26C>A (n.7610+26C>A)
c.2556+26C>A
c.2783+26C>A (n.2783+26C>A)
n.2356+26C>A
c.7805+26C>A (n.7805+26C>A)
c.7796+26C>A (n.7796+26C>A)
c.7787+26C>A (n.7787+26C>A)
c.7673+26C>A (n.7673+26C>A)
c.7508+26C>A (n.7508+26C>A)
c.5657+26C>A (n.5657+26C>A)
c.3347+26C>A (n.3347+26C>A)
n.8046+26C>A
 gnomAD v4
18g.23915448C=CA2290329022LAMA3c.2951+26C= (n.2951+26C=)
c.7778+26C= (n.7778+26C=)
c.4373+26C= (n.4373+26C=)
c.7610+26C= (n.7610+26C=)
c.2556+26C=
c.2783+26C= (n.2783+26C=)
n.2356+26C=
c.7805+26C= (n.7805+26C=)
c.7796+26C= (n.7796+26C=)
c.7787+26C= (n.7787+26C=)
c.7673+26C= (n.7673+26C=)
c.7508+26C= (n.7508+26C=)
c.5657+26C= (n.5657+26C=)
c.3347+26C= (n.3347+26C=)
n.8046+26C=
18g.23915448C>GCA2641297113LAMA3c.2951+26C>G (n.2951+26C>G)
c.7778+26C>G (n.7778+26C>G)
c.4373+26C>G (n.4373+26C>G)
c.7610+26C>G (n.7610+26C>G)
c.2556+26C>G
c.2783+26C>G (n.2783+26C>G)
n.2356+26C>G
c.7805+26C>G (n.7805+26C>G)
c.7796+26C>G (n.7796+26C>G)
c.7787+26C>G (n.7787+26C>G)
c.7673+26C>G (n.7673+26C>G)
c.7508+26C>G (n.7508+26C>G)
c.5657+26C>G (n.5657+26C>G)
c.3347+26C>G (n.3347+26C>G)
n.8046+26C>G
 gnomAD v4
18g.23915448C>TCA8916741LAMA3c.2951+26C>T (n.2951+26C>T)
c.7778+26C>T (n.7778+26C>T)
c.4373+26C>T (n.4373+26C>T)
c.7610+26C>T (n.7610+26C>T)
c.2556+26C>T
c.2783+26C>T (n.2783+26C>T)
n.2356+26C>T
c.7805+26C>T (n.7805+26C>T)
c.7796+26C>T (n.7796+26C>T)
c.7787+26C>T (n.7787+26C>T)
c.7673+26C>T (n.7673+26C>T)
c.7508+26C>T (n.7508+26C>T)
c.5657+26C>T (n.5657+26C>T)
c.3347+26C>T (n.3347+26C>T)
n.8046+26C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915452G>TCA2641297116LAMA3c.2951+30G>T (n.2951+30G>T)
c.7778+30G>T (n.7778+30G>T)
c.4373+30G>T (n.4373+30G>T)
c.7610+30G>T (n.7610+30G>T)
c.2556+30G>T
c.2783+30G>T (n.2783+30G>T)
n.2356+30G>T
c.7805+30G>T (n.7805+30G>T)
c.7796+30G>T (n.7796+30G>T)
c.7787+30G>T (n.7787+30G>T)
c.7673+30G>T (n.7673+30G>T)
c.7508+30G>T (n.7508+30G>T)
c.5657+30G>T (n.5657+30G>T)
c.3347+30G>T (n.3347+30G>T)
n.8046+30G>T
 gnomAD v4
18g.23915453T>CCA2641297117LAMA3c.2951+31T>C (n.2951+31T>C)
c.7778+31T>C (n.7778+31T>C)
c.4373+31T>C (n.4373+31T>C)
c.7610+31T>C (n.7610+31T>C)
c.2556+31T>C
c.2783+31T>C (n.2783+31T>C)
n.2356+31T>C
c.7805+31T>C (n.7805+31T>C)
c.7796+31T>C (n.7796+31T>C)
c.7787+31T>C (n.7787+31T>C)
c.7673+31T>C (n.7673+31T>C)
c.7508+31T>C (n.7508+31T>C)
c.5657+31T>C (n.5657+31T>C)
c.3347+31T>C (n.3347+31T>C)
n.8046+31T>C
 gnomAD v4
18g.23915456C>TCA2570773634LAMA3c.2951+34C>T (n.2951+34C>T)
c.7778+34C>T (n.7778+34C>T)
c.4373+34C>T (n.4373+34C>T)
c.7610+34C>T (n.7610+34C>T)
c.2556+34C>T
c.2783+34C>T (n.2783+34C>T)
n.2356+34C>T
c.7805+34C>T (n.7805+34C>T)
c.7796+34C>T (n.7796+34C>T)
c.7787+34C>T (n.7787+34C>T)
c.7673+34C>T (n.7673+34C>T)
c.7508+34C>T (n.7508+34C>T)
c.5657+34C>T (n.5657+34C>T)
c.3347+34C>T (n.3347+34C>T)
n.8046+34C>T
18g.23915457T>ACA2641297119LAMA3c.2951+35T>A (n.2951+35T>A)
c.7778+35T>A (n.7778+35T>A)
c.4373+35T>A (n.4373+35T>A)
c.7610+35T>A (n.7610+35T>A)
c.2556+35T>A
c.2783+35T>A (n.2783+35T>A)
n.2356+35T>A
c.7805+35T>A (n.7805+35T>A)
c.7796+35T>A (n.7796+35T>A)
c.7787+35T>A (n.7787+35T>A)
c.7673+35T>A (n.7673+35T>A)
c.7508+35T>A (n.7508+35T>A)
c.5657+35T>A (n.5657+35T>A)
c.3347+35T>A (n.3347+35T>A)
n.8046+35T>A
 gnomAD v4
18g.23915459G>ACA2641297120LAMA3c.2951+37G>A (n.2951+37G>A)
c.7778+37G>A (n.7778+37G>A)
c.4373+37G>A (n.4373+37G>A)
c.7610+37G>A (n.7610+37G>A)
c.2556+37G>A
c.2783+37G>A (n.2783+37G>A)
n.2356+37G>A
c.7805+37G>A (n.7805+37G>A)
c.7796+37G>A (n.7796+37G>A)
c.7787+37G>A (n.7787+37G>A)
c.7673+37G>A (n.7673+37G>A)
c.7508+37G>A (n.7508+37G>A)
c.5657+37G>A (n.5657+37G>A)
c.3347+37G>A (n.3347+37G>A)
n.8046+37G>A
 gnomAD v4
18g.23915459G>TCA2641297122LAMA3c.2951+37G>T (n.2951+37G>T)
c.7778+37G>T (n.7778+37G>T)
c.4373+37G>T (n.4373+37G>T)
c.7610+37G>T (n.7610+37G>T)
c.2556+37G>T
c.2783+37G>T (n.2783+37G>T)
n.2356+37G>T
c.7805+37G>T (n.7805+37G>T)
c.7796+37G>T (n.7796+37G>T)
c.7787+37G>T (n.7787+37G>T)
c.7673+37G>T (n.7673+37G>T)
c.7508+37G>T (n.7508+37G>T)
c.5657+37G>T (n.5657+37G>T)
c.3347+37G>T (n.3347+37G>T)
n.8046+37G>T
 gnomAD v4
18g.23915460A>GCA2641297123LAMA3c.2951+38A>G (n.2951+38A>G)
c.7778+38A>G (n.7778+38A>G)
c.4373+38A>G (n.4373+38A>G)
c.7610+38A>G (n.7610+38A>G)
c.2556+38A>G
c.2783+38A>G (n.2783+38A>G)
n.2356+38A>G
c.7805+38A>G (n.7805+38A>G)
c.7796+38A>G (n.7796+38A>G)
c.7787+38A>G (n.7787+38A>G)
c.7673+38A>G (n.7673+38A>G)
c.7508+38A>G (n.7508+38A>G)
c.5657+38A>G (n.5657+38A>G)
c.3347+38A>G (n.3347+38A>G)
n.8046+38A>G
 gnomAD v4
18g.23915464T>CCA2576473153LAMA3c.2951+42T>C (n.2951+42T>C)
c.7778+42T>C (n.7778+42T>C)
c.4373+42T>C (n.4373+42T>C)
c.7610+42T>C (n.7610+42T>C)
c.2556+42T>C
c.2783+42T>C (n.2783+42T>C)
n.2356+42T>C
c.7805+42T>C (n.7805+42T>C)
c.7796+42T>C (n.7796+42T>C)
c.7787+42T>C (n.7787+42T>C)
c.7673+42T>C (n.7673+42T>C)
c.7508+42T>C (n.7508+42T>C)
c.5657+42T>C (n.5657+42T>C)
c.3347+42T>C (n.3347+42T>C)
n.8046+42T>C
18g.23915466G>TCA2641297124LAMA3c.2951+44G>T (n.2951+44G>T)
c.7778+44G>T (n.7778+44G>T)
c.4373+44G>T (n.4373+44G>T)
c.7610+44G>T (n.7610+44G>T)
c.2556+44G>T
c.2783+44G>T (n.2783+44G>T)
n.2356+44G>T
c.7805+44G>T (n.7805+44G>T)
c.7796+44G>T (n.7796+44G>T)
c.7787+44G>T (n.7787+44G>T)
c.7673+44G>T (n.7673+44G>T)
c.7508+44G>T (n.7508+44G>T)
c.5657+44G>T (n.5657+44G>T)
c.3347+44G>T (n.3347+44G>T)
n.8046+44G>T
 gnomAD v4
18g.23915467G>ACA628685393LAMA3c.2951+45G>A (n.2951+45G>A)
c.7778+45G>A (n.7778+45G>A)
c.4373+45G>A (n.4373+45G>A)
c.7610+45G>A (n.7610+45G>A)
c.2556+45G>A
c.2783+45G>A (n.2783+45G>A)
n.2356+45G>A
c.7805+45G>A (n.7805+45G>A)
c.7796+45G>A (n.7796+45G>A)
c.7787+45G>A (n.7787+45G>A)
c.7673+45G>A (n.7673+45G>A)
c.7508+45G>A (n.7508+45G>A)
c.5657+45G>A (n.5657+45G>A)
c.3347+45G>A (n.3347+45G>A)
n.8046+45G>A
 dbSNP gnomAD v2 gnomAD v4
18g.23915467G>CCA8916742LAMA3c.2951+45G>C (n.2951+45G>C)
c.7778+45G>C (n.7778+45G>C)
c.4373+45G>C (n.4373+45G>C)
c.7610+45G>C (n.7610+45G>C)
c.2556+45G>C
c.2783+45G>C (n.2783+45G>C)
n.2356+45G>C
c.7805+45G>C (n.7805+45G>C)
c.7796+45G>C (n.7796+45G>C)
c.7787+45G>C (n.7787+45G>C)
c.7673+45G>C (n.7673+45G>C)
c.7508+45G>C (n.7508+45G>C)
c.5657+45G>C (n.5657+45G>C)
c.3347+45G>C (n.3347+45G>C)
n.8046+45G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915467G=CA2290329024LAMA3c.2951+45G= (n.2951+45G=)
c.7778+45G= (n.7778+45G=)
c.4373+45G= (n.4373+45G=)
c.7610+45G= (n.7610+45G=)
c.2556+45G=
c.2783+45G= (n.2783+45G=)
n.2356+45G=
c.7805+45G= (n.7805+45G=)
c.7796+45G= (n.7796+45G=)
c.7787+45G= (n.7787+45G=)
c.7673+45G= (n.7673+45G=)
c.7508+45G= (n.7508+45G=)
c.5657+45G= (n.5657+45G=)
c.3347+45G= (n.3347+45G=)
n.8046+45G=
18g.23915467G>TCA2290329025LAMA3c.2951+45G>T (n.2951+45G>T)
c.7778+45G>T (n.7778+45G>T)
c.4373+45G>T (n.4373+45G>T)
c.7610+45G>T (n.7610+45G>T)
c.2556+45G>T
c.2783+45G>T (n.2783+45G>T)
n.2356+45G>T
c.7805+45G>T (n.7805+45G>T)
c.7796+45G>T (n.7796+45G>T)
c.7787+45G>T (n.7787+45G>T)
c.7673+45G>T (n.7673+45G>T)
c.7508+45G>T (n.7508+45G>T)
c.5657+45G>T (n.5657+45G>T)
c.3347+45G>T (n.3347+45G>T)
n.8046+45G>T
 dbSNP
18g.23915468T>CCA8916743LAMA3c.2951+46T>C (n.2951+46T>C)
c.7778+46T>C (n.7778+46T>C)
c.4373+46T>C (n.4373+46T>C)
c.7610+46T>C (n.7610+46T>C)
c.2556+46T>C
c.2783+46T>C (n.2783+46T>C)
n.2356+46T>C
c.7805+46T>C (n.7805+46T>C)
c.7796+46T>C (n.7796+46T>C)
c.7787+46T>C (n.7787+46T>C)
c.7673+46T>C (n.7673+46T>C)
c.7508+46T>C (n.7508+46T>C)
c.5657+46T>C (n.5657+46T>C)
c.3347+46T>C (n.3347+46T>C)
n.8046+46T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915468T=CA2290329027LAMA3c.2951+46T= (n.2951+46T=)
c.7778+46T= (n.7778+46T=)
c.4373+46T= (n.4373+46T=)
c.7610+46T= (n.7610+46T=)
c.2556+46T=
c.2783+46T= (n.2783+46T=)
n.2356+46T=
c.7805+46T= (n.7805+46T=)
c.7796+46T= (n.7796+46T=)
c.7787+46T= (n.7787+46T=)
c.7673+46T= (n.7673+46T=)
c.7508+46T= (n.7508+46T=)
c.5657+46T= (n.5657+46T=)
c.3347+46T= (n.3347+46T=)
n.8046+46T=
18g.23915471C>ACA2641297128LAMA3c.2951+49C>A (n.2951+49C>A)
c.7778+49C>A (n.7778+49C>A)
c.4373+49C>A (n.4373+49C>A)
c.7610+49C>A (n.7610+49C>A)
c.2556+49C>A
c.2783+49C>A (n.2783+49C>A)
n.2356+49C>A
c.7805+49C>A (n.7805+49C>A)
c.7796+49C>A (n.7796+49C>A)
c.7787+49C>A (n.7787+49C>A)
c.7673+49C>A (n.7673+49C>A)
c.7508+49C>A (n.7508+49C>A)
c.5657+49C>A (n.5657+49C>A)
c.3347+49C>A (n.3347+49C>A)
n.8046+49C>A
 gnomAD v4
18g.23915473delCA2811822942LAMA3c.2951+51del (n.2951+51del)
c.7778+51del (n.7778+51del)
c.4373+51del (n.4373+51del)
c.7610+51del (n.7610+51del)
c.2556+51del
c.2783+51del (n.2783+51del)
n.2356+51del
c.7805+51del (n.7805+51del)
c.7796+51del (n.7796+51del)
c.7787+51del (n.7787+51del)
c.7673+51del (n.7673+51del)
c.7508+51del (n.7508+51del)
c.5657+51del (n.5657+51del)
c.3347+51del (n.3347+51del)
n.8046+51del
18g.23915473T>GCA628685394LAMA3c.2951+51T>G (n.2951+51T>G)
c.7778+51T>G (n.7778+51T>G)
c.4373+51T>G (n.4373+51T>G)
c.7610+51T>G (n.7610+51T>G)
c.2556+51T>G
c.2783+51T>G (n.2783+51T>G)
n.2356+51T>G
c.7805+51T>G (n.7805+51T>G)
c.7796+51T>G (n.7796+51T>G)
c.7787+51T>G (n.7787+51T>G)
c.7673+51T>G (n.7673+51T>G)
c.7508+51T>G (n.7508+51T>G)
c.5657+51T>G (n.5657+51T>G)
c.3347+51T>G (n.3347+51T>G)
n.8046+51T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23915473T=CA2290329028LAMA3c.2951+51T= (n.2951+51T=)
c.7778+51T= (n.7778+51T=)
c.4373+51T= (n.4373+51T=)
c.7610+51T= (n.7610+51T=)
c.2556+51T=
c.2783+51T= (n.2783+51T=)
n.2356+51T=
c.7805+51T= (n.7805+51T=)
c.7796+51T= (n.7796+51T=)
c.7787+51T= (n.7787+51T=)
c.7673+51T= (n.7673+51T=)
c.7508+51T= (n.7508+51T=)
c.5657+51T= (n.5657+51T=)
c.3347+51T= (n.3347+51T=)
n.8046+51T=
18g.23915474G>ACA628685395LAMA3c.2951+52G>A (n.2951+52G>A)
c.7778+52G>A (n.7778+52G>A)
c.4373+52G>A (n.4373+52G>A)
c.7610+52G>A (n.7610+52G>A)
c.2556+52G>A
c.2783+52G>A (n.2783+52G>A)
n.2356+52G>A
c.7805+52G>A (n.7805+52G>A)
c.7796+52G>A (n.7796+52G>A)
c.7787+52G>A (n.7787+52G>A)
c.7673+52G>A (n.7673+52G>A)
c.7508+52G>A (n.7508+52G>A)
c.5657+52G>A (n.5657+52G>A)
c.3347+52G>A (n.3347+52G>A)
n.8046+52G>A
 dbSNP gnomAD v2 gnomAD v4
18g.23915474G=CA2290329030LAMA3c.2951+52G= (n.2951+52G=)
c.7778+52G= (n.7778+52G=)
c.4373+52G= (n.4373+52G=)
c.7610+52G= (n.7610+52G=)
c.2556+52G=
c.2783+52G= (n.2783+52G=)
n.2356+52G=
c.7805+52G= (n.7805+52G=)
c.7796+52G= (n.7796+52G=)
c.7787+52G= (n.7787+52G=)
c.7673+52G= (n.7673+52G=)
c.7508+52G= (n.7508+52G=)
c.5657+52G= (n.5657+52G=)
c.3347+52G= (n.3347+52G=)
n.8046+52G=
18g.23915474G>TCA2641297133LAMA3c.2951+52G>T (n.2951+52G>T)
c.7778+52G>T (n.7778+52G>T)
c.4373+52G>T (n.4373+52G>T)
c.7610+52G>T (n.7610+52G>T)
c.2556+52G>T
c.2783+52G>T (n.2783+52G>T)
n.2356+52G>T
c.7805+52G>T (n.7805+52G>T)
c.7796+52G>T (n.7796+52G>T)
c.7787+52G>T (n.7787+52G>T)
c.7673+52G>T (n.7673+52G>T)
c.7508+52G>T (n.7508+52G>T)
c.5657+52G>T (n.5657+52G>T)
c.3347+52G>T (n.3347+52G>T)
n.8046+52G>T
 gnomAD v4
18g.23915474_23915475delCA2641297132LAMA3c.2951+52_2951+53del (n.2951+52_2951+53del)
c.7778+52_7778+53del (n.7778+52_7778+53del)
c.4373+52_4373+53del (n.4373+52_4373+53del)
c.7610+52_7610+53del (n.7610+52_7610+53del)
c.2556+52_2556+53del
c.2783+52_2783+53del (n.2783+52_2783+53del)
n.2356+52_2356+53del
c.7805+52_7805+53del (n.7805+52_7805+53del)
c.7796+52_7796+53del (n.7796+52_7796+53del)
c.7787+52_7787+53del (n.7787+52_7787+53del)
c.7673+52_7673+53del (n.7673+52_7673+53del)
c.7508+52_7508+53del (n.7508+52_7508+53del)
c.5657+52_5657+53del (n.5657+52_5657+53del)
c.3347+52_3347+53del (n.3347+52_3347+53del)
n.8046+52_8046+53del
 gnomAD v4
18g.23915475C>ACA2641297135LAMA3c.2951+53C>A (n.2951+53C>A)
c.7778+53C>A (n.7778+53C>A)
c.4373+53C>A (n.4373+53C>A)
c.7610+53C>A (n.7610+53C>A)
c.2556+53C>A
c.2783+53C>A (n.2783+53C>A)
n.2356+53C>A
c.7805+53C>A (n.7805+53C>A)
c.7796+53C>A (n.7796+53C>A)
c.7787+53C>A (n.7787+53C>A)
c.7673+53C>A (n.7673+53C>A)
c.7508+53C>A (n.7508+53C>A)
c.5657+53C>A (n.5657+53C>A)
c.3347+53C>A (n.3347+53C>A)
n.8046+53C>A
 gnomAD v4
18g.23915475C>TCA2641297136LAMA3c.2951+53C>T (n.2951+53C>T)
c.7778+53C>T (n.7778+53C>T)
c.4373+53C>T (n.4373+53C>T)
c.7610+53C>T (n.7610+53C>T)
c.2556+53C>T
c.2783+53C>T (n.2783+53C>T)
n.2356+53C>T
c.7805+53C>T (n.7805+53C>T)
c.7796+53C>T (n.7796+53C>T)
c.7787+53C>T (n.7787+53C>T)
c.7673+53C>T (n.7673+53C>T)
c.7508+53C>T (n.7508+53C>T)
c.5657+53C>T (n.5657+53C>T)
c.3347+53C>T (n.3347+53C>T)
n.8046+53C>T
 gnomAD v4
18g.23915476A=CA2290329031LAMA3c.2951+54A= (n.2951+54A=)
c.7778+54A= (n.7778+54A=)
c.4373+54A= (n.4373+54A=)
c.7610+54A= (n.7610+54A=)
c.2556+54A=
c.2783+54A= (n.2783+54A=)
n.2356+54A=
c.7805+54A= (n.7805+54A=)
c.7796+54A= (n.7796+54A=)
c.7787+54A= (n.7787+54A=)
c.7673+54A= (n.7673+54A=)
c.7508+54A= (n.7508+54A=)
c.5657+54A= (n.5657+54A=)
c.3347+54A= (n.3347+54A=)
n.8046+54A=
18g.23915476A>CCA297109677LAMA3c.2951+54A>C (n.2951+54A>C)
c.7778+54A>C (n.7778+54A>C)
c.4373+54A>C (n.4373+54A>C)
c.7610+54A>C (n.7610+54A>C)
c.2556+54A>C
c.2783+54A>C (n.2783+54A>C)
n.2356+54A>C
c.7805+54A>C (n.7805+54A>C)
c.7796+54A>C (n.7796+54A>C)
c.7787+54A>C (n.7787+54A>C)
c.7673+54A>C (n.7673+54A>C)
c.7508+54A>C (n.7508+54A>C)
c.5657+54A>C (n.5657+54A>C)
c.3347+54A>C (n.3347+54A>C)
n.8046+54A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23915476A>GCA2641297139LAMA3c.2951+54A>G (n.2951+54A>G)
c.7778+54A>G (n.7778+54A>G)
c.4373+54A>G (n.4373+54A>G)
c.7610+54A>G (n.7610+54A>G)
c.2556+54A>G
c.2783+54A>G (n.2783+54A>G)
n.2356+54A>G
c.7805+54A>G (n.7805+54A>G)
c.7796+54A>G (n.7796+54A>G)
c.7787+54A>G (n.7787+54A>G)
c.7673+54A>G (n.7673+54A>G)
c.7508+54A>G (n.7508+54A>G)
c.5657+54A>G (n.5657+54A>G)
c.3347+54A>G (n.3347+54A>G)
n.8046+54A>G
 gnomAD v4
18g.23915477G>ACA2641297141LAMA3c.2951+55G>A (n.2951+55G>A)
c.7778+55G>A (n.7778+55G>A)
c.4373+55G>A (n.4373+55G>A)
c.7610+55G>A (n.7610+55G>A)
c.2556+55G>A
c.2783+55G>A (n.2783+55G>A)
n.2356+55G>A
c.7805+55G>A (n.7805+55G>A)
c.7796+55G>A (n.7796+55G>A)
c.7787+55G>A (n.7787+55G>A)
c.7673+55G>A (n.7673+55G>A)
c.7508+55G>A (n.7508+55G>A)
c.5657+55G>A (n.5657+55G>A)
c.3347+55G>A (n.3347+55G>A)
n.8046+55G>A
 gnomAD v4
18g.23915478T>ACA2641297142LAMA3c.2951+56T>A (n.2951+56T>A)
c.7778+56T>A (n.7778+56T>A)
c.4373+56T>A (n.4373+56T>A)
c.7610+56T>A (n.7610+56T>A)
c.2556+56T>A
c.2783+56T>A (n.2783+56T>A)
n.2356+56T>A
c.7805+56T>A (n.7805+56T>A)
c.7796+56T>A (n.7796+56T>A)
c.7787+56T>A (n.7787+56T>A)
c.7673+56T>A (n.7673+56T>A)
c.7508+56T>A (n.7508+56T>A)
c.5657+56T>A (n.5657+56T>A)
c.3347+56T>A (n.3347+56T>A)
n.8046+56T>A
 gnomAD v4
18g.23915478T>GCA777729116LAMA3c.2951+56T>G (n.2951+56T>G)
c.7778+56T>G (n.7778+56T>G)
c.4373+56T>G (n.4373+56T>G)
c.7610+56T>G (n.7610+56T>G)
c.2556+56T>G
c.2783+56T>G (n.2783+56T>G)
n.2356+56T>G
c.7805+56T>G (n.7805+56T>G)
c.7796+56T>G (n.7796+56T>G)
c.7787+56T>G (n.7787+56T>G)
c.7673+56T>G (n.7673+56T>G)
c.7508+56T>G (n.7508+56T>G)
c.5657+56T>G (n.5657+56T>G)
c.3347+56T>G (n.3347+56T>G)
n.8046+56T>G
 dbSNP gnomAD v3 gnomAD v4
18g.23915478T=CA2290329033LAMA3c.2951+56T= (n.2951+56T=)
c.7778+56T= (n.7778+56T=)
c.4373+56T= (n.4373+56T=)
c.7610+56T= (n.7610+56T=)
c.2556+56T=
c.2783+56T= (n.2783+56T=)
n.2356+56T=
c.7805+56T= (n.7805+56T=)
c.7796+56T= (n.7796+56T=)
c.7787+56T= (n.7787+56T=)
c.7673+56T= (n.7673+56T=)
c.7508+56T= (n.7508+56T=)
c.5657+56T= (n.5657+56T=)
c.3347+56T= (n.3347+56T=)
n.8046+56T=
18g.23915479A>GCA2641297145LAMA3c.2951+57A>G (n.2951+57A>G)
c.7778+57A>G (n.7778+57A>G)
c.4373+57A>G (n.4373+57A>G)
c.7610+57A>G (n.7610+57A>G)
c.2556+57A>G
c.2783+57A>G (n.2783+57A>G)
n.2356+57A>G
c.7805+57A>G (n.7805+57A>G)
c.7796+57A>G (n.7796+57A>G)
c.7787+57A>G (n.7787+57A>G)
c.7673+57A>G (n.7673+57A>G)
c.7508+57A>G (n.7508+57A>G)
c.5657+57A>G (n.5657+57A>G)
c.3347+57A>G (n.3347+57A>G)
n.8046+57A>G
 gnomAD v4
18g.23915480C>ACA2576473154LAMA3c.2951+58C>A (n.2951+58C>A)
c.7778+58C>A (n.7778+58C>A)
c.4373+58C>A (n.4373+58C>A)
c.7610+58C>A (n.7610+58C>A)
c.2556+58C>A
c.2783+58C>A (n.2783+58C>A)
n.2356+58C>A
c.7805+58C>A (n.7805+58C>A)
c.7796+58C>A (n.7796+58C>A)
c.7787+58C>A (n.7787+58C>A)
c.7673+58C>A (n.7673+58C>A)
c.7508+58C>A (n.7508+58C>A)
c.5657+58C>A (n.5657+58C>A)
c.3347+58C>A (n.3347+58C>A)
n.8046+58C>A
 gnomAD v4
18g.23915480C>GCA2641297148LAMA3c.2951+58C>G (n.2951+58C>G)
c.7778+58C>G (n.7778+58C>G)
c.4373+58C>G (n.4373+58C>G)
c.7610+58C>G (n.7610+58C>G)
c.2556+58C>G
c.2783+58C>G (n.2783+58C>G)
n.2356+58C>G
c.7805+58C>G (n.7805+58C>G)
c.7796+58C>G (n.7796+58C>G)
c.7787+58C>G (n.7787+58C>G)
c.7673+58C>G (n.7673+58C>G)
c.7508+58C>G (n.7508+58C>G)
c.5657+58C>G (n.5657+58C>G)
c.3347+58C>G (n.3347+58C>G)
n.8046+58C>G
 gnomAD v4
18g.23915481T>ACA2641297151LAMA3c.2951+59T>A (n.2951+59T>A)
c.7778+59T>A (n.7778+59T>A)
c.4373+59T>A (n.4373+59T>A)
c.7610+59T>A (n.7610+59T>A)
c.2556+59T>A
c.2783+59T>A (n.2783+59T>A)
n.2356+59T>A
c.7805+59T>A (n.7805+59T>A)
c.7796+59T>A (n.7796+59T>A)
c.7787+59T>A (n.7787+59T>A)
c.7673+59T>A (n.7673+59T>A)
c.7508+59T>A (n.7508+59T>A)
c.5657+59T>A (n.5657+59T>A)
c.3347+59T>A (n.3347+59T>A)
n.8046+59T>A
 gnomAD v4
18g.23915481T>CCA2641297150LAMA3c.2951+59T>C (n.2951+59T>C)
c.7778+59T>C (n.7778+59T>C)
c.4373+59T>C (n.4373+59T>C)
c.7610+59T>C (n.7610+59T>C)
c.2556+59T>C
c.2783+59T>C (n.2783+59T>C)
n.2356+59T>C
c.7805+59T>C (n.7805+59T>C)
c.7796+59T>C (n.7796+59T>C)
c.7787+59T>C (n.7787+59T>C)
c.7673+59T>C (n.7673+59T>C)
c.7508+59T>C (n.7508+59T>C)
c.5657+59T>C (n.5657+59T>C)
c.3347+59T>C (n.3347+59T>C)
n.8046+59T>C
 gnomAD v4
18g.23915481T>GCA2641297149LAMA3c.2951+59T>G (n.2951+59T>G)
c.7778+59T>G (n.7778+59T>G)
c.4373+59T>G (n.4373+59T>G)
c.7610+59T>G (n.7610+59T>G)
c.2556+59T>G
c.2783+59T>G (n.2783+59T>G)
n.2356+59T>G
c.7805+59T>G (n.7805+59T>G)
c.7796+59T>G (n.7796+59T>G)
c.7787+59T>G (n.7787+59T>G)
c.7673+59T>G (n.7673+59T>G)
c.7508+59T>G (n.7508+59T>G)
c.5657+59T>G (n.5657+59T>G)
c.3347+59T>G (n.3347+59T>G)
n.8046+59T>G
 gnomAD v4
18g.23915484delCA2576473155LAMA3c.2951+62del (n.2951+62del)
c.7778+62del (n.7778+62del)
c.4373+62del (n.4373+62del)
c.7610+62del (n.7610+62del)
c.2556+62del
c.2783+62del (n.2783+62del)
n.2356+62del
c.7805+62del (n.7805+62del)
c.7796+62del (n.7796+62del)
c.7787+62del (n.7787+62del)
c.7673+62del (n.7673+62del)
c.7508+62del (n.7508+62del)
c.5657+62del (n.5657+62del)
c.3347+62del (n.3347+62del)
n.8046+62del
 gnomAD v4
18g.23915482T>CCA2641297153LAMA3c.2951+60T>C (n.2951+60T>C)
c.7778+60T>C (n.7778+60T>C)
c.4373+60T>C (n.4373+60T>C)
c.7610+60T>C (n.7610+60T>C)
c.2556+60T>C
c.2783+60T>C (n.2783+60T>C)
n.2356+60T>C
c.7805+60T>C (n.7805+60T>C)
c.7796+60T>C (n.7796+60T>C)
c.7787+60T>C (n.7787+60T>C)
c.7673+60T>C (n.7673+60T>C)
c.7508+60T>C (n.7508+60T>C)
c.5657+60T>C (n.5657+60T>C)
c.3347+60T>C (n.3347+60T>C)
n.8046+60T>C
 gnomAD v4
18g.23915483T>CCA2641297155LAMA3c.2951+61T>C (n.2951+61T>C)
c.7778+61T>C (n.7778+61T>C)
c.4373+61T>C (n.4373+61T>C)
c.7610+61T>C (n.7610+61T>C)
c.2556+61T>C
c.2783+61T>C (n.2783+61T>C)
n.2356+61T>C
c.7805+61T>C (n.7805+61T>C)
c.7796+61T>C (n.7796+61T>C)
c.7787+61T>C (n.7787+61T>C)
c.7673+61T>C (n.7673+61T>C)
c.7508+61T>C (n.7508+61T>C)
c.5657+61T>C (n.5657+61T>C)
c.3347+61T>C (n.3347+61T>C)
n.8046+61T>C
 gnomAD v4
18g.23915483T>GCA2641297156LAMA3c.2951+61T>G (n.2951+61T>G)
c.7778+61T>G (n.7778+61T>G)
c.4373+61T>G (n.4373+61T>G)
c.7610+61T>G (n.7610+61T>G)
c.2556+61T>G
c.2783+61T>G (n.2783+61T>G)
n.2356+61T>G
c.7805+61T>G (n.7805+61T>G)
c.7796+61T>G (n.7796+61T>G)
c.7787+61T>G (n.7787+61T>G)
c.7673+61T>G (n.7673+61T>G)
c.7508+61T>G (n.7508+61T>G)
c.5657+61T>G (n.5657+61T>G)
c.3347+61T>G (n.3347+61T>G)
n.8046+61T>G
 gnomAD v4
18g.23915484T>CCA2576473156LAMA3c.2951+62T>C (n.2951+62T>C)
c.7778+62T>C (n.7778+62T>C)
c.4373+62T>C (n.4373+62T>C)
c.7610+62T>C (n.7610+62T>C)
c.2556+62T>C
c.2783+62T>C (n.2783+62T>C)
n.2356+62T>C
c.7805+62T>C (n.7805+62T>C)
c.7796+62T>C (n.7796+62T>C)
c.7787+62T>C (n.7787+62T>C)
c.7673+62T>C (n.7673+62T>C)
c.7508+62T>C (n.7508+62T>C)
c.5657+62T>C (n.5657+62T>C)
c.3347+62T>C (n.3347+62T>C)
n.8046+62T>C
 gnomAD v4
18g.23915485A>GCA2641297161LAMA3c.2951+63A>G (n.2951+63A>G)
c.7778+63A>G (n.7778+63A>G)
c.4373+63A>G (n.4373+63A>G)
c.7610+63A>G (n.7610+63A>G)
c.2556+63A>G
c.2783+63A>G (n.2783+63A>G)
n.2356+63A>G
c.7805+63A>G (n.7805+63A>G)
c.7796+63A>G (n.7796+63A>G)
c.7787+63A>G (n.7787+63A>G)
c.7673+63A>G (n.7673+63A>G)
c.7508+63A>G (n.7508+63A>G)
c.5657+63A>G (n.5657+63A>G)
c.3347+63A>G (n.3347+63A>G)
n.8046+63A>G
 gnomAD v4
18g.23915485A>TCA2641297164LAMA3c.2951+63A>T (n.2951+63A>T)
c.7778+63A>T (n.7778+63A>T)
c.4373+63A>T (n.4373+63A>T)
c.7610+63A>T (n.7610+63A>T)
c.2556+63A>T
c.2783+63A>T (n.2783+63A>T)
n.2356+63A>T
c.7805+63A>T (n.7805+63A>T)
c.7796+63A>T (n.7796+63A>T)
c.7787+63A>T (n.7787+63A>T)
c.7673+63A>T (n.7673+63A>T)
c.7508+63A>T (n.7508+63A>T)
c.5657+63A>T (n.5657+63A>T)
c.3347+63A>T (n.3347+63A>T)
n.8046+63A>T
 gnomAD v4

Number of alleles fetched