Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23898725G>ACA2568259131LAMA3c.787-13G>A (n.787-13G>A)
c.5614-13G>A (n.5614-13G>A)
c.2506-13G>A (n.2506-13G>A)
c.392-13G>A
n.192-13G>A
c.5641-13G>A (n.5641-13G>A)
c.5632-13G>A (n.5632-13G>A)
c.5623-13G>A (n.5623-13G>A)
c.5509-13G>A (n.5509-13G>A)
c.3493-13G>A (n.3493-13G>A)
c.1183-13G>A (n.1183-13G>A)
n.5882-13G>A
 gnomAD v4
18g.23898726T>ACA2641294555LAMA3c.787-12T>A (n.787-12T>A)
c.5614-12T>A (n.5614-12T>A)
c.2506-12T>A (n.2506-12T>A)
c.392-12T>A
n.192-12T>A
c.5641-12T>A (n.5641-12T>A)
c.5632-12T>A (n.5632-12T>A)
c.5623-12T>A (n.5623-12T>A)
c.5509-12T>A (n.5509-12T>A)
c.3493-12T>A (n.3493-12T>A)
c.1183-12T>A (n.1183-12T>A)
n.5882-12T>A
 gnomAD v4
18g.23898728T>CCA2641294556LAMA3c.787-10T>C (n.787-10T>C)
c.5614-10T>C (n.5614-10T>C)
c.2506-10T>C (n.2506-10T>C)
c.392-10T>C
n.192-10T>C
c.5641-10T>C (n.5641-10T>C)
c.5632-10T>C (n.5632-10T>C)
c.5623-10T>C (n.5623-10T>C)
c.5509-10T>C (n.5509-10T>C)
c.3493-10T>C (n.3493-10T>C)
c.1183-10T>C (n.1183-10T>C)
n.5882-10T>C
 gnomAD v4
18g.23898729T>CCA2499225081LAMA3c.787-9T>C (n.787-9T>C)
c.5614-9T>C (n.5614-9T>C)
c.2506-9T>C (n.2506-9T>C)
c.392-9T>C
n.192-9T>C
c.5641-9T>C (n.5641-9T>C)
c.5632-9T>C (n.5632-9T>C)
c.5623-9T>C (n.5623-9T>C)
c.5509-9T>C (n.5509-9T>C)
c.3493-9T>C (n.3493-9T>C)
c.1183-9T>C (n.1183-9T>C)
n.5882-9T>C
 ClinVar dbSNP
18g.23898730G>ACA297095574LAMA3c.787-8G>A (n.787-8G>A)
c.5614-8G>A (n.5614-8G>A)
c.2506-8G>A (n.2506-8G>A)
c.392-8G>A
n.192-8G>A
c.5641-8G>A (n.5641-8G>A)
c.5632-8G>A (n.5632-8G>A)
c.5623-8G>A (n.5623-8G>A)
c.5509-8G>A (n.5509-8G>A)
c.3493-8G>A (n.3493-8G>A)
c.1183-8G>A (n.1183-8G>A)
n.5882-8G>A
 dbSNP gnomAD v4
18g.23898730G=CA2290322156LAMA3c.787-8G= (n.787-8G=)
c.5614-8G= (n.5614-8G=)
c.2506-8G= (n.2506-8G=)
c.392-8G=
n.192-8G=
c.5641-8G= (n.5641-8G=)
c.5632-8G= (n.5632-8G=)
c.5623-8G= (n.5623-8G=)
c.5509-8G= (n.5509-8G=)
c.3493-8G= (n.3493-8G=)
c.1183-8G= (n.1183-8G=)
n.5882-8G=
18g.23898733dupCA2641294557LAMA3c.787-5dup (n.787-5dup)
c.5614-5dup (n.5614-5dup)
c.2506-5dup (n.2506-5dup)
c.392-5dup
n.192-5dup
c.5641-5dup (n.5641-5dup)
c.5632-5dup (n.5632-5dup)
c.5623-5dup (n.5623-5dup)
c.5509-5dup (n.5509-5dup)
c.3493-5dup (n.3493-5dup)
c.1183-5dup (n.1183-5dup)
n.5882-5dup
 gnomAD v4
18g.23898732T>CCA2641294558LAMA3c.787-6T>C (n.787-6T>C)
c.5614-6T>C (n.5614-6T>C)
c.2506-6T>C (n.2506-6T>C)
c.392-6T>C
n.192-6T>C
c.5641-6T>C (n.5641-6T>C)
c.5632-6T>C (n.5632-6T>C)
c.5623-6T>C (n.5623-6T>C)
c.5509-6T>C (n.5509-6T>C)
c.3493-6T>C (n.3493-6T>C)
c.1183-6T>C (n.1183-6T>C)
n.5882-6T>C
 gnomAD v4
18g.23898732T>GCA2697555350LAMA3c.787-6T>G (n.787-6T>G)
c.5614-6T>G (n.5614-6T>G)
c.2506-6T>G (n.2506-6T>G)
c.392-6T>G
n.192-6T>G
c.5641-6T>G (n.5641-6T>G)
c.5632-6T>G (n.5632-6T>G)
c.5623-6T>G (n.5623-6T>G)
c.5509-6T>G (n.5509-6T>G)
c.3493-6T>G (n.3493-6T>G)
c.1183-6T>G (n.1183-6T>G)
n.5882-6T>G
 ClinVar
18g.23898734C>ACA2641294559LAMA3c.787-4C>A (n.787-4C>A)
c.5614-4C>A (n.5614-4C>A)
c.2506-4C>A (n.2506-4C>A)
c.392-4C>A
n.192-4C>A
c.5641-4C>A (n.5641-4C>A)
c.5632-4C>A (n.5632-4C>A)
c.5623-4C>A (n.5623-4C>A)
c.5509-4C>A (n.5509-4C>A)
c.3493-4C>A (n.3493-4C>A)
c.1183-4C>A (n.1183-4C>A)
n.5882-4C>A
 gnomAD v4
18g.23898734C>TCA2576553373LAMA3c.787-4C>T (n.787-4C>T)
c.5614-4C>T (n.5614-4C>T)
c.2506-4C>T (n.2506-4C>T)
c.392-4C>T
n.192-4C>T
c.5641-4C>T (n.5641-4C>T)
c.5632-4C>T (n.5632-4C>T)
c.5623-4C>T (n.5623-4C>T)
c.5509-4C>T (n.5509-4C>T)
c.3493-4C>T (n.3493-4C>T)
c.1183-4C>T (n.1183-4C>T)
n.5882-4C>T
18g.23898735C>ACA2641294560LAMA3c.787-3C>A (n.787-3C>A)
c.5614-3C>A (n.5614-3C>A)
c.2506-3C>A (n.2506-3C>A)
c.392-3C>A
n.192-3C>A
c.5641-3C>A (n.5641-3C>A)
c.5632-3C>A (n.5632-3C>A)
c.5623-3C>A (n.5623-3C>A)
c.5509-3C>A (n.5509-3C>A)
c.3493-3C>A (n.3493-3C>A)
c.1183-3C>A (n.1183-3C>A)
n.5882-3C>A
 gnomAD v4
18g.23898735C>TCA2641294561LAMA3c.787-3C>T (n.787-3C>T)
c.5614-3C>T (n.5614-3C>T)
c.2506-3C>T (n.2506-3C>T)
c.392-3C>T
n.192-3C>T
c.5641-3C>T (n.5641-3C>T)
c.5632-3C>T (n.5632-3C>T)
c.5623-3C>T (n.5623-3C>T)
c.5509-3C>T (n.5509-3C>T)
c.3493-3C>T (n.3493-3C>T)
c.1183-3C>T (n.1183-3C>T)
n.5882-3C>T
 gnomAD v4
18g.23898736A>CCA402046293LAMA3c.787-2A>C (n.787-2A>C)
c.5614-2A>C (n.5614-2A>C)
c.2506-2A>C (n.2506-2A>C)
c.392-2A>C
n.192-2A>C
c.5641-2A>C (n.5641-2A>C)
c.5632-2A>C (n.5632-2A>C)
c.5623-2A>C (n.5623-2A>C)
c.5509-2A>C (n.5509-2A>C)
c.3493-2A>C (n.3493-2A>C)
c.1183-2A>C (n.1183-2A>C)
n.5882-2A>C
18g.23898736A>GCA402046294LAMA3c.787-2A>G (n.787-2A>G)
c.5614-2A>G (n.5614-2A>G)
c.2506-2A>G (n.2506-2A>G)
c.392-2A>G
n.192-2A>G
c.5641-2A>G (n.5641-2A>G)
c.5632-2A>G (n.5632-2A>G)
c.5623-2A>G (n.5623-2A>G)
c.5509-2A>G (n.5509-2A>G)
c.3493-2A>G (n.3493-2A>G)
c.1183-2A>G (n.1183-2A>G)
n.5882-2A>G
 ClinVar gnomAD v4
18g.23898736A>TCA402046295LAMA3c.787-2A>T (n.787-2A>T)
c.5614-2A>T (n.5614-2A>T)
c.2506-2A>T (n.2506-2A>T)
c.392-2A>T
n.192-2A>T
c.5641-2A>T (n.5641-2A>T)
c.5632-2A>T (n.5632-2A>T)
c.5623-2A>T (n.5623-2A>T)
c.5509-2A>T (n.5509-2A>T)
c.3493-2A>T (n.3493-2A>T)
c.1183-2A>T (n.1183-2A>T)
n.5882-2A>T
 gnomAD v4
18g.23898737G>ACA402046296LAMA3c.787-1G>A (n.787-1G>A)
c.5614-1G>A (n.5614-1G>A)
c.2506-1G>A (n.2506-1G>A)
n.1G>A
c.392-1G>A
n.192-1G>A
c.5641-1G>A (n.5641-1G>A)
c.5632-1G>A (n.5632-1G>A)
c.5623-1G>A (n.5623-1G>A)
c.5509-1G>A (n.5509-1G>A)
c.3493-1G>A (n.3493-1G>A)
c.1183-1G>A (n.1183-1G>A)
n.5882-1G>A
18g.23898737G>CCA402046297LAMA3c.787-1G>C (n.787-1G>C)
c.5614-1G>C (n.5614-1G>C)
c.2506-1G>C (n.2506-1G>C)
n.1G>C
c.392-1G>C
n.192-1G>C
c.5641-1G>C (n.5641-1G>C)
c.5632-1G>C (n.5632-1G>C)
c.5623-1G>C (n.5623-1G>C)
c.5509-1G>C (n.5509-1G>C)
c.3493-1G>C (n.3493-1G>C)
c.1183-1G>C (n.1183-1G>C)
n.5882-1G>C
18g.23898737G>TCA402046298LAMA3c.787-1G>T (n.787-1G>T)
c.5614-1G>T (n.5614-1G>T)
c.2506-1G>T (n.2506-1G>T)
n.1G>T
c.392-1G>T
n.192-1G>T
c.5641-1G>T (n.5641-1G>T)
c.5632-1G>T (n.5632-1G>T)
c.5623-1G>T (n.5623-1G>T)
c.5509-1G>T (n.5509-1G>T)
c.3493-1G>T (n.3493-1G>T)
c.1183-1G>T (n.1183-1G>T)
n.5882-1G>T
18g.23898738A=CA2290322157LAMA3c.787A= (p.Asn263=)
c.5614A= (p.Asn1872=)
c.2506A= (p.Asn836=)
n.2A=
c.392A=
n.192A=
c.5641A= (p.Asn1881=)
c.5632A= (p.Asn1878=)
c.5623A= (p.Asn1875=)
c.5509A= (p.Asn1837=)
c.3493A= (p.Asn1165=)
c.1183A= (p.Asn395=)
n.5882A=
18g.23898738A>CCA402046299LAMA3c.787A>C (p.Asn263His)
c.5614A>C (p.Asn1872His)
c.2506A>C (p.Asn836His)
n.2A>C
c.392A>C
n.192A>C
c.5641A>C (p.Asn1881His)
c.5632A>C (p.Asn1878His)
c.5623A>C (p.Asn1875His)
c.5509A>C (p.Asn1837His)
c.3493A>C (p.Asn1165His)
c.1183A>C (p.Asn395His)
n.5882A>C
18g.23898738A>GCA402046300LAMA3c.787A>G (p.Asn263Asp)
c.5614A>G (p.Asn1872Asp)
c.2506A>G (p.Asn836Asp)
n.2A>G
c.392A>G
n.192A>G
c.5641A>G (p.Asn1881Asp)
c.5632A>G (p.Asn1878Asp)
c.5623A>G (p.Asn1875Asp)
c.5509A>G (p.Asn1837Asp)
c.3493A>G (p.Asn1165Asp)
c.1183A>G (p.Asn395Asp)
n.5882A>G
 gnomAD v4
18g.23898738A>TCA297095579LAMA3c.787A>T (p.Asn263Tyr)
c.5614A>T (p.Asn1872Tyr)
c.2506A>T (p.Asn836Tyr)
n.2A>T
c.392A>T
n.192A>T
c.5641A>T (p.Asn1881Tyr)
c.5632A>T (p.Asn1878Tyr)
c.5623A>T (p.Asn1875Tyr)
c.5509A>T (p.Asn1837Tyr)
c.3493A>T (p.Asn1165Tyr)
c.1183A>T (p.Asn395Tyr)
n.5882A>T
 dbSNP gnomAD v3 gnomAD v4
18g.23898739A=CA2290322158LAMA3c.788A= (p.Asn263=)
c.5615A= (p.Asn1872=)
c.2507A= (p.Asn836=)
n.3A=
c.393A=
n.193A=
c.5642A= (p.Asn1881=)
c.5633A= (p.Asn1878=)
c.5624A= (p.Asn1875=)
c.5510A= (p.Asn1837=)
c.3494A= (p.Asn1165=)
c.1184A= (p.Asn395=)
n.5883A=
18g.23898739A>CCA402046301LAMA3c.788A>C (p.Asn263Thr)
c.5615A>C (p.Asn1872Thr)
c.2507A>C (p.Asn836Thr)
n.3A>C
c.393A>C
n.193A>C
c.5642A>C (p.Asn1881Thr)
c.5633A>C (p.Asn1878Thr)
c.5624A>C (p.Asn1875Thr)
c.5510A>C (p.Asn1837Thr)
c.3494A>C (p.Asn1165Thr)
c.1184A>C (p.Asn395Thr)
n.5883A>C
18g.23898739A>GCA402046302LAMA3c.788A>G (p.Asn263Ser)
c.5615A>G (p.Asn1872Ser)
c.2507A>G (p.Asn836Ser)
n.3A>G
c.393A>G
n.193A>G
c.5642A>G (p.Asn1881Ser)
c.5633A>G (p.Asn1878Ser)
c.5624A>G (p.Asn1875Ser)
c.5510A>G (p.Asn1837Ser)
c.3494A>G (p.Asn1165Ser)
c.1184A>G (p.Asn395Ser)
n.5883A>G
 dbSNP gnomAD v3 gnomAD v4
18g.23898739A>TCA402046303LAMA3c.788A>T (p.Asn263Ile)
c.5615A>T (p.Asn1872Ile)
c.2507A>T (p.Asn836Ile)
n.3A>T
c.393A>T
n.193A>T
c.5642A>T (p.Asn1881Ile)
c.5633A>T (p.Asn1878Ile)
c.5624A>T (p.Asn1875Ile)
c.5510A>T (p.Asn1837Ile)
c.3494A>T (p.Asn1165Ile)
c.1184A>T (p.Asn395Ile)
n.5883A>T
18g.23898740T>ACA402046304LAMA3c.789T>A (p.Asn263Lys)
c.5616T>A (p.Asn1872Lys)
c.2508T>A (p.Asn836Lys)
n.4T>A
c.394T>A
n.194T>A
c.5643T>A (p.Asn1881Lys)
c.5634T>A (p.Asn1878Lys)
c.5625T>A (p.Asn1875Lys)
c.5511T>A (p.Asn1837Lys)
c.3495T>A (p.Asn1165Lys)
c.1185T>A (p.Asn395Lys)
n.5884T>A
 gnomAD v4
18g.23898740T>CCA503331842LAMA3c.789T>C (p.Asn263=)
c.5616T>C (p.Asn1872=)
c.2508T>C (p.Asn836=)
n.4T>C
c.394T>C
n.194T>C
c.5643T>C (p.Asn1881=)
c.5634T>C (p.Asn1878=)
c.5625T>C (p.Asn1875=)
c.5511T>C (p.Asn1837=)
c.3495T>C (p.Asn1165=)
c.1185T>C (p.Asn395=)
n.5884T>C
 gnomAD v4
18g.23898740T>GCA402046305LAMA3c.789T>G (p.Asn263Lys)
c.5616T>G (p.Asn1872Lys)
c.2508T>G (p.Asn836Lys)
n.4T>G
c.394T>G
n.194T>G
c.5643T>G (p.Asn1881Lys)
c.5634T>G (p.Asn1878Lys)
c.5625T>G (p.Asn1875Lys)
c.5511T>G (p.Asn1837Lys)
c.3495T>G (p.Asn1165Lys)
c.1185T>G (p.Asn395Lys)
n.5884T>G
18g.23898741C>ACA402046306LAMA3c.790C>A (p.Gln264Lys)
c.5617C>A (p.Gln1873Lys)
c.2509C>A (p.Gln837Lys)
n.5C>A
c.395C>A
n.195C>A
c.5644C>A (p.Gln1882Lys)
c.5635C>A (p.Gln1879Lys)
c.5626C>A (p.Gln1876Lys)
c.5512C>A (p.Gln1838Lys)
c.3496C>A (p.Gln1166Lys)
c.1186C>A (p.Gln396Lys)
n.5885C>A
 gnomAD v4
18g.23898741C>GCA402046307LAMA3c.790C>G (p.Gln264Glu)
c.5617C>G (p.Gln1873Glu)
c.2509C>G (p.Gln837Glu)
n.5C>G
c.395C>G
n.195C>G
c.5644C>G (p.Gln1882Glu)
c.5635C>G (p.Gln1879Glu)
c.5626C>G (p.Gln1876Glu)
c.5512C>G (p.Gln1838Glu)
c.3496C>G (p.Gln1166Glu)
c.1186C>G (p.Gln396Glu)
n.5885C>G
18g.23898741C>TCA402046308LAMA3c.790C>T (p.Gln264Ter)
c.5617C>T (p.Gln1873Ter)
c.2509C>T (p.Gln837Ter)
n.5C>T
c.395C>T
n.195C>T
c.5644C>T (p.Gln1882Ter)
c.5635C>T (p.Gln1879Ter)
c.5626C>T (p.Gln1876Ter)
c.5512C>T (p.Gln1838Ter)
c.3496C>T (p.Gln1166Ter)
c.1186C>T (p.Gln396Ter)
n.5885C>T
18g.23898742A>CCA402046309LAMA3c.791A>C (p.Gln264Pro)
c.5618A>C (p.Gln1873Pro)
c.2510A>C (p.Gln837Pro)
n.6A>C
c.396A>C
n.196A>C
c.5645A>C (p.Gln1882Pro)
c.5636A>C (p.Gln1879Pro)
c.5627A>C (p.Gln1876Pro)
c.5513A>C (p.Gln1838Pro)
c.3497A>C (p.Gln1166Pro)
c.1187A>C (p.Gln396Pro)
n.5886A>C
18g.23898742A>GCA402046310LAMA3c.791A>G (p.Gln264Arg)
c.5618A>G (p.Gln1873Arg)
c.2510A>G (p.Gln837Arg)
n.6A>G
c.396A>G
n.196A>G
c.5645A>G (p.Gln1882Arg)
c.5636A>G (p.Gln1879Arg)
c.5627A>G (p.Gln1876Arg)
c.5513A>G (p.Gln1838Arg)
c.3497A>G (p.Gln1166Arg)
c.1187A>G (p.Gln396Arg)
n.5886A>G
 gnomAD v4
18g.23898742A>TCA402046311LAMA3c.791A>T (p.Gln264Leu)
c.5618A>T (p.Gln1873Leu)
c.2510A>T (p.Gln837Leu)
n.6A>T
c.396A>T
n.196A>T
c.5645A>T (p.Gln1882Leu)
c.5636A>T (p.Gln1879Leu)
c.5627A>T (p.Gln1876Leu)
c.5513A>T (p.Gln1838Leu)
c.3497A>T (p.Gln1166Leu)
c.1187A>T (p.Gln396Leu)
n.5886A>T
18g.23898743G>ACA503331843LAMA3c.792G>A (p.Gln264=)
c.5619G>A (p.Gln1873=)
c.2511G>A (p.Gln837=)
n.7G>A
c.397G>A
n.197G>A
c.5646G>A (p.Gln1882=)
c.5637G>A (p.Gln1879=)
c.5628G>A (p.Gln1876=)
c.5514G>A (p.Gln1838=)
c.3498G>A (p.Gln1166=)
c.1188G>A (p.Gln396=)
n.5887G>A
18g.23898743G>CCA402046312LAMA3c.792G>C (p.Gln264His)
c.5619G>C (p.Gln1873His)
c.2511G>C (p.Gln837His)
n.7G>C
c.397G>C
n.197G>C
c.5646G>C (p.Gln1882His)
c.5637G>C (p.Gln1879His)
c.5628G>C (p.Gln1876His)
c.5514G>C (p.Gln1838His)
c.3498G>C (p.Gln1166His)
c.1188G>C (p.Gln396His)
n.5887G>C
18g.23898743G>TCA402046313LAMA3c.792G>T (p.Gln264His)
c.5619G>T (p.Gln1873His)
c.2511G>T (p.Gln837His)
n.7G>T
c.397G>T
n.197G>T
c.5646G>T (p.Gln1882His)
c.5637G>T (p.Gln1879His)
c.5628G>T (p.Gln1876His)
c.5514G>T (p.Gln1838His)
c.3498G>T (p.Gln1166His)
c.1188G>T (p.Gln396His)
n.5887G>T
18g.23898746_23898759delCA2499225082LAMA3c.795_808del (p.Leu265PhefsTer19)
c.5622_5635del (p.Leu1874PhefsTer19)
c.2514_2527del (p.Leu838PhefsTer19)
n.10_23del
c.400_413del
n.200_213del
c.5649_5662del (p.Leu1883PhefsTer19)
c.5640_5653del (p.Leu1880PhefsTer19)
c.5631_5644del (p.Leu1877PhefsTer19)
c.5517_5530del (p.Leu1839PhefsTer19)
c.3501_3514del (p.Leu1167PhefsTer19)
c.1191_1204del (p.Leu397PhefsTer19)
n.5890_5903del
 ClinVar dbSNP
18g.23898744T>ACA402046314LAMA3c.793T>A (p.Leu265Met)
c.5620T>A (p.Leu1874Met)
c.2512T>A (p.Leu838Met)
n.8T>A
c.398T>A
n.198T>A
c.5647T>A (p.Leu1883Met)
c.5638T>A (p.Leu1880Met)
c.5629T>A (p.Leu1877Met)
c.5515T>A (p.Leu1839Met)
c.3499T>A (p.Leu1167Met)
c.1189T>A (p.Leu397Met)
n.5888T>A
18g.23898744T>CCA503331844LAMA3c.793T>C (p.Leu265=)
c.5620T>C (p.Leu1874=)
c.2512T>C (p.Leu838=)
n.8T>C
c.398T>C
n.198T>C
c.5647T>C (p.Leu1883=)
c.5638T>C (p.Leu1880=)
c.5629T>C (p.Leu1877=)
c.5515T>C (p.Leu1839=)
c.3499T>C (p.Leu1167=)
c.1189T>C (p.Leu397=)
n.5888T>C
 gnomAD v4
18g.23898744T>GCA402046315LAMA3c.793T>G (p.Leu265Val)
c.5620T>G (p.Leu1874Val)
c.2512T>G (p.Leu838Val)
n.8T>G
c.398T>G
n.198T>G
c.5647T>G (p.Leu1883Val)
c.5638T>G (p.Leu1880Val)
c.5629T>G (p.Leu1877Val)
c.5515T>G (p.Leu1839Val)
c.3499T>G (p.Leu1167Val)
c.1189T>G (p.Leu397Val)
n.5888T>G
18g.23898745T>ACA402046316LAMA3c.794T>A (p.Leu265Ter)
c.5621T>A (p.Leu1874Ter)
c.2513T>A (p.Leu838Ter)
n.9T>A
c.399T>A
n.199T>A
c.5648T>A (p.Leu1883Ter)
c.5639T>A (p.Leu1880Ter)
c.5630T>A (p.Leu1877Ter)
c.5516T>A (p.Leu1839Ter)
c.3500T>A (p.Leu1167Ter)
c.1190T>A (p.Leu397Ter)
n.5889T>A
18g.23898745T>CCA8916130LAMA3c.794T>C (p.Leu265Ser)
c.5621T>C (p.Leu1874Ser)
c.2513T>C (p.Leu838Ser)
n.9T>C
c.399T>C
n.199T>C
c.5648T>C (p.Leu1883Ser)
c.5639T>C (p.Leu1880Ser)
c.5630T>C (p.Leu1877Ser)
c.5516T>C (p.Leu1839Ser)
c.3500T>C (p.Leu1167Ser)
c.1190T>C (p.Leu397Ser)
n.5889T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23898745T>GCA402046317LAMA3c.794T>G (p.Leu265Trp)
c.5621T>G (p.Leu1874Trp)
c.2513T>G (p.Leu838Trp)
n.9T>G
c.399T>G
n.199T>G
c.5648T>G (p.Leu1883Trp)
c.5639T>G (p.Leu1880Trp)
c.5630T>G (p.Leu1877Trp)
c.5516T>G (p.Leu1839Trp)
c.3500T>G (p.Leu1167Trp)
c.1190T>G (p.Leu397Trp)
n.5889T>G
18g.23898745T=CA2290322159LAMA3c.794T= (p.Leu265=)
c.5621T= (p.Leu1874=)
c.2513T= (p.Leu838=)
n.9T=
c.399T=
n.199T=
c.5648T= (p.Leu1883=)
c.5639T= (p.Leu1880=)
c.5630T= (p.Leu1877=)
c.5516T= (p.Leu1839=)
c.3500T= (p.Leu1167=)
c.1190T= (p.Leu397=)
n.5889T=
18g.23898746G>ACA503331845LAMA3c.795G>A (p.Leu265=)
c.5622G>A (p.Leu1874=)
c.2514G>A (p.Leu838=)
n.10G>A
c.400G>A
n.200G>A
c.5649G>A (p.Leu1883=)
c.5640G>A (p.Leu1880=)
c.5631G>A (p.Leu1877=)
c.5517G>A (p.Leu1839=)
c.3501G>A (p.Leu1167=)
c.1191G>A (p.Leu397=)
n.5890G>A
 gnomAD v4
18g.23898746G>CCA402046318LAMA3c.795G>C (p.Leu265Phe)
c.5622G>C (p.Leu1874Phe)
c.2514G>C (p.Leu838Phe)
n.10G>C
c.400G>C
n.200G>C
c.5649G>C (p.Leu1883Phe)
c.5640G>C (p.Leu1880Phe)
c.5631G>C (p.Leu1877Phe)
c.5517G>C (p.Leu1839Phe)
c.3501G>C (p.Leu1167Phe)
c.1191G>C (p.Leu397Phe)
n.5890G>C
18g.23898746G>TCA402046319LAMA3c.795G>T (p.Leu265Phe)
c.5622G>T (p.Leu1874Phe)
c.2514G>T (p.Leu838Phe)
n.10G>T
c.400G>T
n.200G>T
c.5649G>T (p.Leu1883Phe)
c.5640G>T (p.Leu1880Phe)
c.5631G>T (p.Leu1877Phe)
c.5517G>T (p.Leu1839Phe)
c.3501G>T (p.Leu1167Phe)
c.1191G>T (p.Leu397Phe)
n.5890G>T
18g.23898747C>ACA402046320LAMA3c.796C>A (p.Leu266Ile)
c.5623C>A (p.Leu1875Ile)
c.2515C>A (p.Leu839Ile)
n.11C>A
c.401C>A
n.201C>A
c.5650C>A (p.Leu1884Ile)
c.5641C>A (p.Leu1881Ile)
c.5632C>A (p.Leu1878Ile)
c.5518C>A (p.Leu1840Ile)
c.3502C>A (p.Leu1168Ile)
c.1192C>A (p.Leu398Ile)
n.5891C>A
 gnomAD v4
18g.23898747C=CA2290322160LAMA3c.796C= (p.Leu266=)
c.5623C= (p.Leu1875=)
c.2515C= (p.Leu839=)
n.11C=
c.401C=
n.201C=
c.5650C= (p.Leu1884=)
c.5641C= (p.Leu1881=)
c.5632C= (p.Leu1878=)
c.5518C= (p.Leu1840=)
c.3502C= (p.Leu1168=)
c.1192C= (p.Leu398=)
n.5891C=
18g.23898747C>GCA402046321LAMA3c.796C>G (p.Leu266Val)
c.5623C>G (p.Leu1875Val)
c.2515C>G (p.Leu839Val)
n.11C>G
c.401C>G
n.201C>G
c.5650C>G (p.Leu1884Val)
c.5641C>G (p.Leu1881Val)
c.5632C>G (p.Leu1878Val)
c.5518C>G (p.Leu1840Val)
c.3502C>G (p.Leu1168Val)
c.1192C>G (p.Leu398Val)
n.5891C>G
 gnomAD v4
18g.23898747C>TCA8916131LAMA3c.796C>T (p.Leu266Phe)
c.5623C>T (p.Leu1875Phe)
c.2515C>T (p.Leu839Phe)
n.11C>T
c.401C>T
n.201C>T
c.5650C>T (p.Leu1884Phe)
c.5641C>T (p.Leu1881Phe)
c.5632C>T (p.Leu1878Phe)
c.5518C>T (p.Leu1840Phe)
c.3502C>T (p.Leu1168Phe)
c.1192C>T (p.Leu398Phe)
n.5891C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23898748T>ACA8916132LAMA3c.797T>A (p.Leu266His)
c.5624T>A (p.Leu1875His)
c.2516T>A (p.Leu839His)
n.12T>A
c.402T>A
n.202T>A
c.5651T>A (p.Leu1884His)
c.5642T>A (p.Leu1881His)
c.5633T>A (p.Leu1878His)
c.5519T>A (p.Leu1840His)
c.3503T>A (p.Leu1168His)
c.1193T>A (p.Leu398His)
n.5892T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23898748T>CCA402046322LAMA3c.797T>C (p.Leu266Pro)
c.5624T>C (p.Leu1875Pro)
c.2516T>C (p.Leu839Pro)
n.12T>C
c.402T>C
n.202T>C
c.5651T>C (p.Leu1884Pro)
c.5642T>C (p.Leu1881Pro)
c.5633T>C (p.Leu1878Pro)
c.5519T>C (p.Leu1840Pro)
c.3503T>C (p.Leu1168Pro)
c.1193T>C (p.Leu398Pro)
n.5892T>C
 dbSNP gnomAD v2 gnomAD v4
18g.23898748T>GCA402046323LAMA3c.797T>G (p.Leu266Arg)
c.5624T>G (p.Leu1875Arg)
c.2516T>G (p.Leu839Arg)
n.12T>G
c.402T>G
n.202T>G
c.5651T>G (p.Leu1884Arg)
c.5642T>G (p.Leu1881Arg)
c.5633T>G (p.Leu1878Arg)
c.5519T>G (p.Leu1840Arg)
c.3503T>G (p.Leu1168Arg)
c.1193T>G (p.Leu398Arg)
n.5892T>G
18g.23898748T=CA2290322161LAMA3c.797T= (p.Leu266=)
c.5624T= (p.Leu1875=)
c.2516T= (p.Leu839=)
n.12T=
c.402T=
n.202T=
c.5651T= (p.Leu1884=)
c.5642T= (p.Leu1881=)
c.5633T= (p.Leu1878=)
c.5519T= (p.Leu1840=)
c.3503T= (p.Leu1168=)
c.1193T= (p.Leu398=)
n.5892T=
18g.23898749C>ACA503331846LAMA3c.798C>A (p.Leu266=)
c.5625C>A (p.Leu1875=)
c.2517C>A (p.Leu839=)
n.13C>A
c.403C>A
n.203C>A
c.5652C>A (p.Leu1884=)
c.5643C>A (p.Leu1881=)
c.5634C>A (p.Leu1878=)
c.5520C>A (p.Leu1840=)
c.3504C>A (p.Leu1168=)
c.1194C>A (p.Leu398=)
n.5893C>A
 gnomAD v4
18g.23898749C=CA2290322162LAMA3c.798C= (p.Leu266=)
c.5625C= (p.Leu1875=)
c.2517C= (p.Leu839=)
n.13C=
c.403C=
n.203C=
c.5652C= (p.Leu1884=)
c.5643C= (p.Leu1881=)
c.5634C= (p.Leu1878=)
c.5520C= (p.Leu1840=)
c.3504C= (p.Leu1168=)
c.1194C= (p.Leu398=)
n.5893C=
18g.23898749C>GCA503331847LAMA3c.798C>G (p.Leu266=)
c.5625C>G (p.Leu1875=)
c.2517C>G (p.Leu839=)
n.13C>G
c.403C>G
n.203C>G
c.5652C>G (p.Leu1884=)
c.5643C>G (p.Leu1881=)
c.5634C>G (p.Leu1878=)
c.5520C>G (p.Leu1840=)
c.3504C>G (p.Leu1168=)
c.1194C>G (p.Leu398=)
n.5893C>G
18g.23898749C>TCA503331848LAMA3c.798C>T (p.Leu266=)
c.5625C>T (p.Leu1875=)
c.2517C>T (p.Leu839=)
n.13C>T
c.403C>T
n.203C>T
c.5652C>T (p.Leu1884=)
c.5643C>T (p.Leu1881=)
c.5634C>T (p.Leu1878=)
c.5520C>T (p.Leu1840=)
c.3504C>T (p.Leu1168=)
c.1194C>T (p.Leu398=)
n.5893C>T
 ClinVar dbSNP gnomAD v4
18g.23898749_23898750delCA2576553374LAMA3c.798_799del (p.Asn267LeufsTer21)
c.5625_5626del (p.Asn1876LeufsTer21)
c.2517_2518del (p.Asn840LeufsTer21)
n.13_14del
c.403_404del
n.203_204del
c.5652_5653del (p.Asn1885LeufsTer21)
c.5643_5644del (p.Asn1882LeufsTer21)
c.5634_5635del (p.Asn1879LeufsTer21)
c.5520_5521del (p.Asn1841LeufsTer21)
c.3504_3505del (p.Asn1169LeufsTer21)
c.1194_1195del (p.Asn399LeufsTer21)
n.5893_5894del
18g.23898750A>CCA402046324LAMA3c.799A>C (p.Asn267His)
c.5626A>C (p.Asn1876His)
c.2518A>C (p.Asn840His)
n.14A>C
c.404A>C
n.204A>C
c.5653A>C (p.Asn1885His)
c.5644A>C (p.Asn1882His)
c.5635A>C (p.Asn1879His)
c.5521A>C (p.Asn1841His)
c.3505A>C (p.Asn1169His)
c.1195A>C (p.Asn399His)
n.5894A>C
18g.23898750A>GCA402046325LAMA3c.799A>G (p.Asn267Asp)
c.5626A>G (p.Asn1876Asp)
c.2518A>G (p.Asn840Asp)
n.14A>G
c.404A>G
n.204A>G
c.5653A>G (p.Asn1885Asp)
c.5644A>G (p.Asn1882Asp)
c.5635A>G (p.Asn1879Asp)
c.5521A>G (p.Asn1841Asp)
c.3505A>G (p.Asn1169Asp)
c.1195A>G (p.Asn399Asp)
n.5894A>G
18g.23898750A>TCA402046326LAMA3c.799A>T (p.Asn267Tyr)
c.5626A>T (p.Asn1876Tyr)
c.2518A>T (p.Asn840Tyr)
n.14A>T
c.404A>T
n.204A>T
c.5653A>T (p.Asn1885Tyr)
c.5644A>T (p.Asn1882Tyr)
c.5635A>T (p.Asn1879Tyr)
c.5521A>T (p.Asn1841Tyr)
c.3505A>T (p.Asn1169Tyr)
c.1195A>T (p.Asn399Tyr)
n.5894A>T
18g.23898751A>CCA402046327LAMA3c.800A>C (p.Asn267Thr)
c.5627A>C (p.Asn1876Thr)
c.2519A>C (p.Asn840Thr)
n.15A>C
c.405A>C
n.205A>C
c.5654A>C (p.Asn1885Thr)
c.5645A>C (p.Asn1882Thr)
c.5636A>C (p.Asn1879Thr)
c.5522A>C (p.Asn1841Thr)
c.3506A>C (p.Asn1169Thr)
c.1196A>C (p.Asn399Thr)
n.5895A>C
18g.23898751A>GCA402046328LAMA3c.800A>G (p.Asn267Ser)
c.5627A>G (p.Asn1876Ser)
c.2519A>G (p.Asn840Ser)
n.15A>G
c.405A>G
n.205A>G
c.5654A>G (p.Asn1885Ser)
c.5645A>G (p.Asn1882Ser)
c.5636A>G (p.Asn1879Ser)
c.5522A>G (p.Asn1841Ser)
c.3506A>G (p.Asn1169Ser)
c.1196A>G (p.Asn399Ser)
n.5895A>G
18g.23898751A>TCA402046329LAMA3c.800A>T (p.Asn267Ile)
c.5627A>T (p.Asn1876Ile)
c.2519A>T (p.Asn840Ile)
n.15A>T
c.405A>T
n.205A>T
c.5654A>T (p.Asn1885Ile)
c.5645A>T (p.Asn1882Ile)
c.5636A>T (p.Asn1879Ile)
c.5522A>T (p.Asn1841Ile)
c.3506A>T (p.Asn1169Ile)
c.1196A>T (p.Asn399Ile)
n.5895A>T
18g.23898752C>ACA402046330LAMA3c.801C>A (p.Asn267Lys)
c.5628C>A (p.Asn1876Lys)
c.2520C>A (p.Asn840Lys)
n.16C>A
c.406C>A
n.206C>A
c.5655C>A (p.Asn1885Lys)
c.5646C>A (p.Asn1882Lys)
c.5637C>A (p.Asn1879Lys)
c.5523C>A (p.Asn1841Lys)
c.3507C>A (p.Asn1169Lys)
c.1197C>A (p.Asn399Lys)
n.5896C>A
 gnomAD v4
18g.23898752C>GCA402046331LAMA3c.801C>G (p.Asn267Lys)
c.5628C>G (p.Asn1876Lys)
c.2520C>G (p.Asn840Lys)
n.16C>G
c.406C>G
n.206C>G
c.5655C>G (p.Asn1885Lys)
c.5646C>G (p.Asn1882Lys)
c.5637C>G (p.Asn1879Lys)
c.5523C>G (p.Asn1841Lys)
c.3507C>G (p.Asn1169Lys)
c.1197C>G (p.Asn399Lys)
n.5896C>G
18g.23898752C>TCA503331849LAMA3c.801C>T (p.Asn267=)
c.5628C>T (p.Asn1876=)
c.2520C>T (p.Asn840=)
n.16C>T
c.406C>T
n.206C>T
c.5655C>T (p.Asn1885=)
c.5646C>T (p.Asn1882=)
c.5637C>T (p.Asn1879=)
c.5523C>T (p.Asn1841=)
c.3507C>T (p.Asn1169=)
c.1197C>T (p.Asn399=)
n.5896C>T
18g.23898753T>ACA402046334LAMA3c.802T>A (p.Tyr268Asn)
c.5629T>A (p.Tyr1877Asn)
c.2521T>A (p.Tyr841Asn)
n.17T>A
c.407T>A
n.207T>A
c.5656T>A (p.Tyr1886Asn)
c.5647T>A (p.Tyr1883Asn)
c.5638T>A (p.Tyr1880Asn)
c.5524T>A (p.Tyr1842Asn)
c.3508T>A (p.Tyr1170Asn)
c.1198T>A (p.Tyr400Asn)
n.5897T>A
18g.23898753T>CCA402046332LAMA3c.802T>C (p.Tyr268His)
c.5629T>C (p.Tyr1877His)
c.2521T>C (p.Tyr841His)
n.17T>C
c.407T>C
n.207T>C
c.5656T>C (p.Tyr1886His)
c.5647T>C (p.Tyr1883His)
c.5638T>C (p.Tyr1880His)
c.5524T>C (p.Tyr1842His)
c.3508T>C (p.Tyr1170His)
c.1198T>C (p.Tyr400His)
n.5897T>C
18g.23898753T>GCA402046333LAMA3c.802T>G (p.Tyr268Asp)
c.5629T>G (p.Tyr1877Asp)
c.2521T>G (p.Tyr841Asp)
n.17T>G
c.407T>G
n.207T>G
c.5656T>G (p.Tyr1886Asp)
c.5647T>G (p.Tyr1883Asp)
c.5638T>G (p.Tyr1880Asp)
c.5524T>G (p.Tyr1842Asp)
c.3508T>G (p.Tyr1170Asp)
c.1198T>G (p.Tyr400Asp)
n.5897T>G
18g.23898754A=CA2290322163LAMA3c.803A= (p.Tyr268=)
c.5630A= (p.Tyr1877=)
c.2522A= (p.Tyr841=)
n.18A=
c.408A=
n.208A=
c.5657A= (p.Tyr1886=)
c.5648A= (p.Tyr1883=)
c.5639A= (p.Tyr1880=)
c.5525A= (p.Tyr1842=)
c.3509A= (p.Tyr1170=)
c.1199A= (p.Tyr400=)
n.5898A=
18g.23898754A>CCA402046335LAMA3c.803A>C (p.Tyr268Ser)
c.5630A>C (p.Tyr1877Ser)
c.2522A>C (p.Tyr841Ser)
n.18A>C
c.408A>C
n.208A>C
c.5657A>C (p.Tyr1886Ser)
c.5648A>C (p.Tyr1883Ser)
c.5639A>C (p.Tyr1880Ser)
c.5525A>C (p.Tyr1842Ser)
c.3509A>C (p.Tyr1170Ser)
c.1199A>C (p.Tyr400Ser)
n.5898A>C
18g.23898754A>GCA402046336LAMA3c.803A>G (p.Tyr268Cys)
c.5630A>G (p.Tyr1877Cys)
c.2522A>G (p.Tyr841Cys)
n.18A>G
c.408A>G
n.208A>G
c.5657A>G (p.Tyr1886Cys)
c.5648A>G (p.Tyr1883Cys)
c.5639A>G (p.Tyr1880Cys)
c.5525A>G (p.Tyr1842Cys)
c.3509A>G (p.Tyr1170Cys)
c.1199A>G (p.Tyr400Cys)
n.5898A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23898754A>TCA402046337LAMA3c.803A>T (p.Tyr268Phe)
c.5630A>T (p.Tyr1877Phe)
c.2522A>T (p.Tyr841Phe)
n.18A>T
c.408A>T
n.208A>T
c.5657A>T (p.Tyr1886Phe)
c.5648A>T (p.Tyr1883Phe)
c.5639A>T (p.Tyr1880Phe)
c.5525A>T (p.Tyr1842Phe)
c.3509A>T (p.Tyr1170Phe)
c.1199A>T (p.Tyr400Phe)
n.5898A>T
18g.23898754_23898755delinsACCA2290322164LAMA3c.803_804delinsAC (p.Tyr268=)
c.5630_5631delinsAC (p.Tyr1877=)
c.2522_2523delinsAC (p.Tyr841=)
n.18_19delinsAC
c.408_409delinsAC
n.208_209delinsAC
c.5657_5658delinsAC (p.Tyr1886=)
c.5648_5649delinsAC (p.Tyr1883=)
c.5639_5640delinsAC (p.Tyr1880=)
c.5525_5526delinsAC (p.Tyr1842=)
c.3509_3510delinsAC (p.Tyr1170=)
c.1199_1200delinsAC (p.Tyr400=)
n.5898_5899delinsAC
18g.23898755C>ACA402046338LAMA3c.804C>A (p.Tyr268Ter)
c.5631C>A (p.Tyr1877Ter)
c.2523C>A (p.Tyr841Ter)
n.19C>A
c.409C>A
n.209C>A
c.5658C>A (p.Tyr1886Ter)
c.5649C>A (p.Tyr1883Ter)
c.5640C>A (p.Tyr1880Ter)
c.5526C>A (p.Tyr1842Ter)
c.3510C>A (p.Tyr1170Ter)
c.1200C>A (p.Tyr400Ter)
n.5899C>A
 gnomAD v4
18g.23898755C>GCA402046339LAMA3c.804C>G (p.Tyr268Ter)
c.5631C>G (p.Tyr1877Ter)
c.2523C>G (p.Tyr841Ter)
n.19C>G
c.409C>G
n.209C>G
c.5658C>G (p.Tyr1886Ter)
c.5649C>G (p.Tyr1883Ter)
c.5640C>G (p.Tyr1880Ter)
c.5526C>G (p.Tyr1842Ter)
c.3510C>G (p.Tyr1170Ter)
c.1200C>G (p.Tyr400Ter)
n.5899C>G
18g.23898755C>TCA503331850LAMA3c.804C>T (p.Tyr268=)
c.5631C>T (p.Tyr1877=)
c.2523C>T (p.Tyr841=)
n.19C>T
c.409C>T
n.209C>T
c.5658C>T (p.Tyr1886=)
c.5649C>T (p.Tyr1883=)
c.5640C>T (p.Tyr1880=)
c.5526C>T (p.Tyr1842=)
c.3510C>T (p.Tyr1170=)
c.1200C>T (p.Tyr400=)
n.5899C>T
18g.23898756delCA1139665981LAMA3c.805del (p.Arg269ValfsTer11)
c.5632del (p.Arg1878ValfsTer11)
c.2524del (p.Arg842ValfsTer11)
n.20del
c.410del
n.210del
c.5659del (p.Arg1887ValfsTer11)
c.5650del (p.Arg1884ValfsTer11)
c.5641del (p.Arg1881ValfsTer11)
c.5527del (p.Arg1843ValfsTer11)
c.3511del (p.Arg1171ValfsTer11)
c.1201del (p.Arg401ValfsTer11)
n.5900del
 ClinVar dbSNP gnomAD v4
18g.23898756C>ACA402046341LAMA3c.805C>A (p.Arg269Ser)
c.5632C>A (p.Arg1878Ser)
c.2524C>A (p.Arg842Ser)
n.20C>A
c.410C>A
n.210C>A
c.5659C>A (p.Arg1887Ser)
c.5650C>A (p.Arg1884Ser)
c.5641C>A (p.Arg1881Ser)
c.5527C>A (p.Arg1843Ser)
c.3511C>A (p.Arg1171Ser)
c.1201C>A (p.Arg401Ser)
n.5900C>A
 gnomAD v4
18g.23898756C=CA2290322165LAMA3c.805C= (p.Arg269=)
c.5632C= (p.Arg1878=)
c.2524C= (p.Arg842=)
n.20C=
c.410C=
n.210C=
c.5659C= (p.Arg1887=)
c.5650C= (p.Arg1884=)
c.5641C= (p.Arg1881=)
c.5527C= (p.Arg1843=)
c.3511C= (p.Arg1171=)
c.1201C= (p.Arg401=)
n.5900C=
18g.23898756C>GCA402046340LAMA3c.805C>G (p.Arg269Gly)
c.5632C>G (p.Arg1878Gly)
c.2524C>G (p.Arg842Gly)
n.20C>G
c.410C>G
n.210C>G
c.5659C>G (p.Arg1887Gly)
c.5650C>G (p.Arg1884Gly)
c.5641C>G (p.Arg1881Gly)
c.5527C>G (p.Arg1843Gly)
c.3511C>G (p.Arg1171Gly)
c.1201C>G (p.Arg401Gly)
n.5900C>G
18g.23898756C>TCA297095588LAMA3c.805C>T (p.Arg269Cys)
c.5632C>T (p.Arg1878Cys)
c.2524C>T (p.Arg842Cys)
n.20C>T
c.410C>T
n.210C>T
c.5659C>T (p.Arg1887Cys)
c.5650C>T (p.Arg1884Cys)
c.5641C>T (p.Arg1881Cys)
c.5527C>T (p.Arg1843Cys)
c.3511C>T (p.Arg1171Cys)
c.1201C>T (p.Arg401Cys)
n.5900C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
18g.23898757delCA2580095508LAMA3c.806del (p.Arg269LeufsTer11)
c.5633del (p.Arg1878LeufsTer11)
c.2525del (p.Arg842LeufsTer11)
n.21del
c.411del
n.211del
c.5660del (p.Arg1887LeufsTer11)
c.5651del (p.Arg1884LeufsTer11)
c.5642del (p.Arg1881LeufsTer11)
c.5528del (p.Arg1843LeufsTer11)
c.3512del (p.Arg1171LeufsTer11)
c.1202del (p.Arg401LeufsTer11)
n.5901del
 ClinVar
18g.23898757G>ACA8916133LAMA3c.806G>A (p.Arg269His)
c.5633G>A (p.Arg1878His)
c.2525G>A (p.Arg842His)
n.21G>A
c.411G>A
n.211G>A
c.5660G>A (p.Arg1887His)
c.5651G>A (p.Arg1884His)
c.5642G>A (p.Arg1881His)
c.5528G>A (p.Arg1843His)
c.3512G>A (p.Arg1171His)
c.1202G>A (p.Arg401His)
n.5901G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23898757G>CCA402046342LAMA3c.806G>C (p.Arg269Pro)
c.5633G>C (p.Arg1878Pro)
c.2525G>C (p.Arg842Pro)
n.21G>C
c.411G>C
n.211G>C
c.5660G>C (p.Arg1887Pro)
c.5651G>C (p.Arg1884Pro)
c.5642G>C (p.Arg1881Pro)
c.5528G>C (p.Arg1843Pro)
c.3512G>C (p.Arg1171Pro)
c.1202G>C (p.Arg401Pro)
n.5901G>C
18g.23898757G=CA2290322166LAMA3c.806G= (p.Arg269=)
c.5633G= (p.Arg1878=)
c.2525G= (p.Arg842=)
n.21G=
c.411G=
n.211G=
c.5660G= (p.Arg1887=)
c.5651G= (p.Arg1884=)
c.5642G= (p.Arg1881=)
c.5528G= (p.Arg1843=)
c.3512G= (p.Arg1171=)
c.1202G= (p.Arg401=)
n.5901G=
18g.23898757G>TCA402046343LAMA3c.806G>T (p.Arg269Leu)
c.5633G>T (p.Arg1878Leu)
c.2525G>T (p.Arg842Leu)
n.21G>T
c.411G>T
n.211G>T
c.5660G>T (p.Arg1887Leu)
c.5651G>T (p.Arg1884Leu)
c.5642G>T (p.Arg1881Leu)
c.5528G>T (p.Arg1843Leu)
c.3512G>T (p.Arg1171Leu)
c.1202G>T (p.Arg401Leu)
n.5901G>T
 gnomAD v4
18g.23898758T>ACA503331851LAMA3c.807T>A (p.Arg269=)
c.5634T>A (p.Arg1878=)
c.2526T>A (p.Arg842=)
n.22T>A
c.412T>A
n.212T>A
c.5661T>A (p.Arg1887=)
c.5652T>A (p.Arg1884=)
c.5643T>A (p.Arg1881=)
c.5529T>A (p.Arg1843=)
c.3513T>A (p.Arg1171=)
c.1203T>A (p.Arg401=)
n.5902T>A
18g.23898758T>CCA503331852LAMA3c.807T>C (p.Arg269=)
c.5634T>C (p.Arg1878=)
c.2526T>C (p.Arg842=)
n.22T>C
c.412T>C
n.212T>C
c.5661T>C (p.Arg1887=)
c.5652T>C (p.Arg1884=)
c.5643T>C (p.Arg1881=)
c.5529T>C (p.Arg1843=)
c.3513T>C (p.Arg1171=)
c.1203T>C (p.Arg401=)
n.5902T>C
18g.23898758T>GCA503331853LAMA3c.807T>G (p.Arg269=)
c.5634T>G (p.Arg1878=)
c.2526T>G (p.Arg842=)
n.22T>G
c.412T>G
n.212T>G
c.5661T>G (p.Arg1887=)
c.5652T>G (p.Arg1884=)
c.5643T>G (p.Arg1881=)
c.5529T>G (p.Arg1843=)
c.3513T>G (p.Arg1171=)
c.1203T>G (p.Arg401=)
n.5902T>G
18g.23898759T>ACA402046344LAMA3c.808T>A (p.Ser270Thr)
c.5635T>A (p.Ser1879Thr)
c.2527T>A (p.Ser843Thr)
n.23T>A
c.413T>A
n.213T>A
c.5662T>A (p.Ser1888Thr)
c.5653T>A (p.Ser1885Thr)
c.5644T>A (p.Ser1882Thr)
c.5530T>A (p.Ser1844Thr)
c.3514T>A (p.Ser1172Thr)
c.1204T>A (p.Ser402Thr)
n.5903T>A
18g.23898759T>CCA402046345LAMA3c.808T>C (p.Ser270Pro)
c.5635T>C (p.Ser1879Pro)
c.2527T>C (p.Ser843Pro)
n.23T>C
c.413T>C
n.213T>C
c.5662T>C (p.Ser1888Pro)
c.5653T>C (p.Ser1885Pro)
c.5644T>C (p.Ser1882Pro)
c.5530T>C (p.Ser1844Pro)
c.3514T>C (p.Ser1172Pro)
c.1204T>C (p.Ser402Pro)
n.5903T>C
18g.23898759T>GCA402046346LAMA3c.808T>G (p.Ser270Ala)
c.5635T>G (p.Ser1879Ala)
c.2527T>G (p.Ser843Ala)
n.23T>G
c.413T>G
n.213T>G
c.5662T>G (p.Ser1888Ala)
c.5653T>G (p.Ser1885Ala)
c.5644T>G (p.Ser1882Ala)
c.5530T>G (p.Ser1844Ala)
c.3514T>G (p.Ser1172Ala)
c.1204T>G (p.Ser402Ala)
n.5903T>G
18g.23898760C>ACA402046349LAMA3c.809C>A (p.Ser270Tyr)
c.5636C>A (p.Ser1879Tyr)
c.2528C>A (p.Ser843Tyr)
n.24C>A
c.414C>A
n.214C>A
c.5663C>A (p.Ser1888Tyr)
c.5654C>A (p.Ser1885Tyr)
c.5645C>A (p.Ser1882Tyr)
c.5531C>A (p.Ser1844Tyr)
c.3515C>A (p.Ser1172Tyr)
c.1205C>A (p.Ser402Tyr)
n.5904C>A
18g.23898760C>GCA402046347LAMA3c.809C>G (p.Ser270Cys)
c.5636C>G (p.Ser1879Cys)
c.2528C>G (p.Ser843Cys)
n.24C>G
c.414C>G
n.214C>G
c.5663C>G (p.Ser1888Cys)
c.5654C>G (p.Ser1885Cys)
c.5645C>G (p.Ser1882Cys)
c.5531C>G (p.Ser1844Cys)
c.3515C>G (p.Ser1172Cys)
c.1205C>G (p.Ser402Cys)
n.5904C>G
18g.23898760C>TCA402046348LAMA3c.809C>T (p.Ser270Phe)
c.5636C>T (p.Ser1879Phe)
c.2528C>T (p.Ser843Phe)
n.24C>T
c.414C>T
n.214C>T
c.5663C>T (p.Ser1888Phe)
c.5654C>T (p.Ser1885Phe)
c.5645C>T (p.Ser1882Phe)
c.5531C>T (p.Ser1844Phe)
c.3515C>T (p.Ser1172Phe)
c.1205C>T (p.Ser402Phe)
n.5904C>T
18g.23898760_23898775delinsCTGCCATTTCAAATCACA2290322167LAMA3c.809_824delinsCTGCCATTTCAAATCA (p.Ser270=)
c.5636_5651delinsCTGCCATTTCAAATCA (p.Ser1879=)
c.2528_2543delinsCTGCCATTTCAAATCA (p.Ser843=)
n.24_39delinsCTGCCATTTCAAATCA
c.414_429delinsCTGCCATTTCAAATCA
n.214_229delinsCTGCCATTTCAAATCA
c.5663_5678delinsCTGCCATTTCAAATCA (p.Ser1888=)
c.5654_5669delinsCTGCCATTTCAAATCA (p.Ser1885=)
c.5645_5660delinsCTGCCATTTCAAATCA (p.Ser1882=)
c.5531_5546delinsCTGCCATTTCAAATCA (p.Ser1844=)
c.3515_3530delinsCTGCCATTTCAAATCA (p.Ser1172=)
c.1205_1220delinsCTGCCATTTCAAATCA (p.Ser402=)
n.5904_5919delinsCTGCCATTTCAAATCA
18g.23898761T>ACA503331854LAMA3c.810T>A (p.Ser270=)
c.5637T>A (p.Ser1879=)
c.2529T>A (p.Ser843=)
n.25T>A
c.415T>A
n.215T>A
c.5664T>A (p.Ser1888=)
c.5655T>A (p.Ser1885=)
c.5646T>A (p.Ser1882=)
c.5532T>A (p.Ser1844=)
c.3516T>A (p.Ser1172=)
c.1206T>A (p.Ser402=)
n.5905T>A
18g.23898761T>CCA503331855LAMA3c.810T>C (p.Ser270=)
c.5637T>C (p.Ser1879=)
c.2529T>C (p.Ser843=)
n.25T>C
c.415T>C
n.215T>C
c.5664T>C (p.Ser1888=)
c.5655T>C (p.Ser1885=)
c.5646T>C (p.Ser1882=)
c.5532T>C (p.Ser1844=)
c.3516T>C (p.Ser1172=)
c.1206T>C (p.Ser402=)
n.5905T>C
18g.23898761T>GCA503331856LAMA3c.810T>G (p.Ser270=)
c.5637T>G (p.Ser1879=)
c.2529T>G (p.Ser843=)
n.25T>G
c.415T>G
n.215T>G
c.5664T>G (p.Ser1888=)
c.5655T>G (p.Ser1885=)
c.5646T>G (p.Ser1882=)
c.5532T>G (p.Ser1844=)
c.3516T>G (p.Ser1172=)
c.1206T>G (p.Ser402=)
n.5905T>G
 gnomAD v4
18g.23898763_23898777delCA2290322168LAMA3c.812_826del (p.Ala271_His275del)
c.5639_5653del (p.Ala1880_His1884del)
c.2531_2545del (p.Ala844_His848del)
n.27_41del
c.417_431del
n.217_231del
c.5666_5680del (p.Ala1889_His1893del)
c.5657_5671del (p.Ala1886_His1890del)
c.5648_5662del (p.Ala1883_His1887del)
c.5534_5548del (p.Ala1845_His1849del)
c.3518_3532del (p.Ala1173_His1177del)
c.1208_1222del (p.Ala403_His407del)
n.5907_5921del
 dbSNP gnomAD v4
18g.23898762G>ACA402046350LAMA3c.811G>A (p.Ala271Thr)
c.5638G>A (p.Ala1880Thr)
c.2530G>A (p.Ala844Thr)
n.26G>A
c.416G>A
n.216G>A
c.5665G>A (p.Ala1889Thr)
c.5656G>A (p.Ala1886Thr)
c.5647G>A (p.Ala1883Thr)
c.5533G>A (p.Ala1845Thr)
c.3517G>A (p.Ala1173Thr)
c.1207G>A (p.Ala403Thr)
n.5906G>A
 dbSNP gnomAD v4
18g.23898762G>CCA402046351LAMA3c.811G>C (p.Ala271Pro)
c.5638G>C (p.Ala1880Pro)
c.2530G>C (p.Ala844Pro)
n.26G>C
c.416G>C
n.216G>C
c.5665G>C (p.Ala1889Pro)
c.5656G>C (p.Ala1886Pro)
c.5647G>C (p.Ala1883Pro)
c.5533G>C (p.Ala1845Pro)
c.3517G>C (p.Ala1173Pro)
c.1207G>C (p.Ala403Pro)
n.5906G>C
18g.23898762G>TCA402046352LAMA3c.811G>T (p.Ala271Ser)
c.5638G>T (p.Ala1880Ser)
c.2530G>T (p.Ala844Ser)
n.26G>T
c.416G>T
n.216G>T
c.5665G>T (p.Ala1889Ser)
c.5656G>T (p.Ala1886Ser)
c.5647G>T (p.Ala1883Ser)
c.5533G>T (p.Ala1845Ser)
c.3517G>T (p.Ala1173Ser)
c.1207G>T (p.Ala403Ser)
n.5906G>T
18g.23898763C>ACA402046353LAMA3c.812C>A (p.Ala271Asp)
c.5639C>A (p.Ala1880Asp)
c.2531C>A (p.Ala844Asp)
n.27C>A
c.417C>A
n.217C>A
c.5666C>A (p.Ala1889Asp)
c.5657C>A (p.Ala1886Asp)
c.5648C>A (p.Ala1883Asp)
c.5534C>A (p.Ala1845Asp)
c.3518C>A (p.Ala1173Asp)
c.1208C>A (p.Ala403Asp)
n.5907C>A
18g.23898763C>GCA402046354LAMA3c.812C>G (p.Ala271Gly)
c.5639C>G (p.Ala1880Gly)
c.2531C>G (p.Ala844Gly)
n.27C>G
c.417C>G
n.217C>G
c.5666C>G (p.Ala1889Gly)
c.5657C>G (p.Ala1886Gly)
c.5648C>G (p.Ala1883Gly)
c.5534C>G (p.Ala1845Gly)
c.3518C>G (p.Ala1173Gly)
c.1208C>G (p.Ala403Gly)
n.5907C>G
18g.23898763C>TCA402046355LAMA3c.812C>T (p.Ala271Val)
c.5639C>T (p.Ala1880Val)
c.2531C>T (p.Ala844Val)
n.27C>T
c.417C>T
n.217C>T
c.5666C>T (p.Ala1889Val)
c.5657C>T (p.Ala1886Val)
c.5648C>T (p.Ala1883Val)
c.5534C>T (p.Ala1845Val)
c.3518C>T (p.Ala1173Val)
c.1208C>T (p.Ala403Val)
n.5907C>T
18g.23898764C>ACA503331857LAMA3c.813C>A (p.Ala271=)
c.5640C>A (p.Ala1880=)
c.2532C>A (p.Ala844=)
n.28C>A
c.418C>A
n.218C>A
c.5667C>A (p.Ala1889=)
c.5658C>A (p.Ala1886=)
c.5649C>A (p.Ala1883=)
c.5535C>A (p.Ala1845=)
c.3519C>A (p.Ala1173=)
c.1209C>A (p.Ala403=)
n.5908C>A
18g.23898764C>GCA503331858LAMA3c.813C>G (p.Ala271=)
c.5640C>G (p.Ala1880=)
c.2532C>G (p.Ala844=)
n.28C>G
c.418C>G
n.218C>G
c.5667C>G (p.Ala1889=)
c.5658C>G (p.Ala1886=)
c.5649C>G (p.Ala1883=)
c.5535C>G (p.Ala1845=)
c.3519C>G (p.Ala1173=)
c.1209C>G (p.Ala403=)
n.5908C>G
18g.23898764C>TCA503331859LAMA3c.813C>T (p.Ala271=)
c.5640C>T (p.Ala1880=)
c.2532C>T (p.Ala844=)
n.28C>T
c.418C>T
n.218C>T
c.5667C>T (p.Ala1889=)
c.5658C>T (p.Ala1886=)
c.5649C>T (p.Ala1883=)
c.5535C>T (p.Ala1845=)
c.3519C>T (p.Ala1173=)
c.1209C>T (p.Ala403=)
n.5908C>T
18g.23898765A=CA2290322169LAMA3c.814A= (p.Ile272=)
c.5641A= (p.Ile1881=)
c.2533A= (p.Ile845=)
n.29A=
c.419A=
n.219A=
c.5668A= (p.Ile1890=)
c.5659A= (p.Ile1887=)
c.5650A= (p.Ile1884=)
c.5536A= (p.Ile1846=)
c.3520A= (p.Ile1174=)
c.1210A= (p.Ile404=)
n.5909A=
18g.23898765A>CCA402046356LAMA3c.814A>C (p.Ile272Leu)
c.5641A>C (p.Ile1881Leu)
c.2533A>C (p.Ile845Leu)
n.29A>C
c.419A>C
n.219A>C
c.5668A>C (p.Ile1890Leu)
c.5659A>C (p.Ile1887Leu)
c.5650A>C (p.Ile1884Leu)
c.5536A>C (p.Ile1846Leu)
c.3520A>C (p.Ile1174Leu)
c.1210A>C (p.Ile404Leu)
n.5909A>C
 gnomAD v4
18g.23898765A>GCA8916134LAMA3c.814A>G (p.Ile272Val)
c.5641A>G (p.Ile1881Val)
c.2533A>G (p.Ile845Val)
n.29A>G
c.419A>G
n.219A>G
c.5668A>G (p.Ile1890Val)
c.5659A>G (p.Ile1887Val)
c.5650A>G (p.Ile1884Val)
c.5536A>G (p.Ile1846Val)
c.3520A>G (p.Ile1174Val)
c.1210A>G (p.Ile404Val)
n.5909A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23898765A>TCA402046357LAMA3c.814A>T (p.Ile272Phe)
c.5641A>T (p.Ile1881Phe)
c.2533A>T (p.Ile845Phe)
n.29A>T
c.419A>T
n.219A>T
c.5668A>T (p.Ile1890Phe)
c.5659A>T (p.Ile1887Phe)
c.5650A>T (p.Ile1884Phe)
c.5536A>T (p.Ile1846Phe)
c.3520A>T (p.Ile1174Phe)
c.1210A>T (p.Ile404Phe)
n.5909A>T
18g.23898766T>ACA402046358LAMA3c.815T>A (p.Ile272Asn)
c.5642T>A (p.Ile1881Asn)
c.2534T>A (p.Ile845Asn)
n.30T>A
c.420T>A
n.220T>A
c.5669T>A (p.Ile1890Asn)
c.5660T>A (p.Ile1887Asn)
c.5651T>A (p.Ile1884Asn)
c.5537T>A (p.Ile1846Asn)
c.3521T>A (p.Ile1174Asn)
c.1211T>A (p.Ile404Asn)
n.5910T>A
18g.23898766T>CCA402046359LAMA3c.815T>C (p.Ile272Thr)
c.5642T>C (p.Ile1881Thr)
c.2534T>C (p.Ile845Thr)
n.30T>C
c.420T>C
n.220T>C
c.5669T>C (p.Ile1890Thr)
c.5660T>C (p.Ile1887Thr)
c.5651T>C (p.Ile1884Thr)
c.5537T>C (p.Ile1846Thr)
c.3521T>C (p.Ile1174Thr)
c.1211T>C (p.Ile404Thr)
n.5910T>C
18g.23898766T>GCA402046360LAMA3c.815T>G (p.Ile272Ser)
c.5642T>G (p.Ile1881Ser)
c.2534T>G (p.Ile845Ser)
n.30T>G
c.420T>G
n.220T>G
c.5669T>G (p.Ile1890Ser)
c.5660T>G (p.Ile1887Ser)
c.5651T>G (p.Ile1884Ser)
c.5537T>G (p.Ile1846Ser)
c.3521T>G (p.Ile1174Ser)
c.1211T>G (p.Ile404Ser)
n.5910T>G
18g.23898767T>ACA503331861LAMA3c.816T>A (p.Ile272=)
c.5643T>A (p.Ile1881=)
c.2535T>A (p.Ile845=)
n.31T>A
c.421T>A
n.221T>A
c.5670T>A (p.Ile1890=)
c.5661T>A (p.Ile1887=)
c.5652T>A (p.Ile1884=)
c.5538T>A (p.Ile1846=)
c.3522T>A (p.Ile1174=)
c.1212T>A (p.Ile404=)
n.5911T>A
18g.23898767T>CCA503331860LAMA3c.816T>C (p.Ile272=)
c.5643T>C (p.Ile1881=)
c.2535T>C (p.Ile845=)
n.31T>C
c.421T>C
n.221T>C
c.5670T>C (p.Ile1890=)
c.5661T>C (p.Ile1887=)
c.5652T>C (p.Ile1884=)
c.5538T>C (p.Ile1846=)
c.3522T>C (p.Ile1174=)
c.1212T>C (p.Ile404=)
n.5911T>C
18g.23898767T>GCA402046361LAMA3c.816T>G (p.Ile272Met)
c.5643T>G (p.Ile1881Met)
c.2535T>G (p.Ile845Met)
n.31T>G
c.421T>G
n.221T>G
c.5670T>G (p.Ile1890Met)
c.5661T>G (p.Ile1887Met)
c.5652T>G (p.Ile1884Met)
c.5538T>G (p.Ile1846Met)
c.3522T>G (p.Ile1174Met)
c.1212T>G (p.Ile404Met)
n.5911T>G
18g.23898768T>ACA402046364LAMA3c.817T>A (p.Ser273Thr)
c.5644T>A (p.Ser1882Thr)
c.2536T>A (p.Ser846Thr)
n.32T>A
c.422T>A
n.222T>A
c.5671T>A (p.Ser1891Thr)
c.5662T>A (p.Ser1888Thr)
c.5653T>A (p.Ser1885Thr)
c.5539T>A (p.Ser1847Thr)
c.3523T>A (p.Ser1175Thr)
c.1213T>A (p.Ser405Thr)
n.5912T>A
18g.23898768T>CCA402046362LAMA3c.817T>C (p.Ser273Pro)
c.5644T>C (p.Ser1882Pro)
c.2536T>C (p.Ser846Pro)
n.32T>C
c.422T>C
n.222T>C
c.5671T>C (p.Ser1891Pro)
c.5662T>C (p.Ser1888Pro)
c.5653T>C (p.Ser1885Pro)
c.5539T>C (p.Ser1847Pro)
c.3523T>C (p.Ser1175Pro)
c.1213T>C (p.Ser405Pro)
n.5912T>C
 gnomAD v4
18g.23898768T>GCA402046363LAMA3c.817T>G (p.Ser273Ala)
c.5644T>G (p.Ser1882Ala)
c.2536T>G (p.Ser846Ala)
n.32T>G
c.422T>G
n.222T>G
c.5671T>G (p.Ser1891Ala)
c.5662T>G (p.Ser1888Ala)
c.5653T>G (p.Ser1885Ala)
c.5539T>G (p.Ser1847Ala)
c.3523T>G (p.Ser1175Ala)
c.1213T>G (p.Ser405Ala)
n.5912T>G
18g.23898769C>ACA402046365LAMA3c.818C>A (p.Ser273Ter)
c.5645C>A (p.Ser1882Ter)
c.2537C>A (p.Ser846Ter)
n.33C>A
c.423C>A
n.223C>A
c.5672C>A (p.Ser1891Ter)
c.5663C>A (p.Ser1888Ter)
c.5654C>A (p.Ser1885Ter)
c.5540C>A (p.Ser1847Ter)
c.3524C>A (p.Ser1175Ter)
c.1214C>A (p.Ser405Ter)
n.5913C>A
18g.23898769C=CA2290322170LAMA3c.818C= (p.Ser273=)
c.5645C= (p.Ser1882=)
c.2537C= (p.Ser846=)
n.33C=
c.423C=
n.223C=
c.5672C= (p.Ser1891=)
c.5663C= (p.Ser1888=)
c.5654C= (p.Ser1885=)
c.5540C= (p.Ser1847=)
c.3524C= (p.Ser1175=)
c.1214C= (p.Ser405=)
n.5913C=
18g.23898769C>GCA402046366LAMA3c.818C>G (p.Ser273Ter)
c.5645C>G (p.Ser1882Ter)
c.2537C>G (p.Ser846Ter)
n.33C>G
c.423C>G
n.223C>G
c.5672C>G (p.Ser1891Ter)
c.5663C>G (p.Ser1888Ter)
c.5654C>G (p.Ser1885Ter)
c.5540C>G (p.Ser1847Ter)
c.3524C>G (p.Ser1175Ter)
c.1214C>G (p.Ser405Ter)
n.5913C>G
 ClinVar dbSNP gnomAD v2
18g.23898769C>TCA402046367LAMA3c.818C>T (p.Ser273Leu)
c.5645C>T (p.Ser1882Leu)
c.2537C>T (p.Ser846Leu)
n.33C>T
c.423C>T
n.223C>T
c.5672C>T (p.Ser1891Leu)
c.5663C>T (p.Ser1888Leu)
c.5654C>T (p.Ser1885Leu)
c.5540C>T (p.Ser1847Leu)
c.3524C>T (p.Ser1175Leu)
c.1214C>T (p.Ser405Leu)
n.5913C>T
18g.23898770A>CCA503331862LAMA3c.819A>C (p.Ser273=)
c.5646A>C (p.Ser1882=)
c.2538A>C (p.Ser846=)
n.34A>C
c.424A>C
n.224A>C
c.5673A>C (p.Ser1891=)
c.5664A>C (p.Ser1888=)
c.5655A>C (p.Ser1885=)
c.5541A>C (p.Ser1847=)
c.3525A>C (p.Ser1175=)
c.1215A>C (p.Ser405=)
n.5914A>C
18g.23898770A>GCA503331863LAMA3c.819A>G (p.Ser273=)
c.5646A>G (p.Ser1882=)
c.2538A>G (p.Ser846=)
n.34A>G
c.424A>G
n.224A>G
c.5673A>G (p.Ser1891=)
c.5664A>G (p.Ser1888=)
c.5655A>G (p.Ser1885=)
c.5541A>G (p.Ser1847=)
c.3525A>G (p.Ser1175=)
c.1215A>G (p.Ser405=)
n.5914A>G
18g.23898770A>TCA503331864LAMA3c.819A>T (p.Ser273=)
c.5646A>T (p.Ser1882=)
c.2538A>T (p.Ser846=)
n.34A>T
c.424A>T
n.224A>T
c.5673A>T (p.Ser1891=)
c.5664A>T (p.Ser1888=)
c.5655A>T (p.Ser1885=)
c.5541A>T (p.Ser1847=)
c.3525A>T (p.Ser1175=)
c.1215A>T (p.Ser405=)
n.5914A>T
18g.23898771A=CA2290322171LAMA3c.820A= (p.Asn274=)
c.5647A= (p.Asn1883=)
c.2539A= (p.Asn847=)
n.35A=
c.425A=
n.225A=
c.5674A= (p.Asn1892=)
c.5665A= (p.Asn1889=)
c.5656A= (p.Asn1886=)
c.5542A= (p.Asn1848=)
c.3526A= (p.Asn1176=)
c.1216A= (p.Asn406=)
n.5915A=
18g.23898771A>CCA402046368LAMA3c.820A>C (p.Asn274His)
c.5647A>C (p.Asn1883His)
c.2539A>C (p.Asn847His)
n.35A>C
c.425A>C
n.225A>C
c.5674A>C (p.Asn1892His)
c.5665A>C (p.Asn1889His)
c.5656A>C (p.Asn1886His)
c.5542A>C (p.Asn1848His)
c.3526A>C (p.Asn1176His)
c.1216A>C (p.Asn406His)
n.5915A>C
 dbSNP
18g.23898771A>GCA402046369LAMA3c.820A>G (p.Asn274Asp)
c.5647A>G (p.Asn1883Asp)
c.2539A>G (p.Asn847Asp)
n.35A>G
c.425A>G
n.225A>G
c.5674A>G (p.Asn1892Asp)
c.5665A>G (p.Asn1889Asp)
c.5656A>G (p.Asn1886Asp)
c.5542A>G (p.Asn1848Asp)
c.3526A>G (p.Asn1176Asp)
c.1216A>G (p.Asn406Asp)
n.5915A>G
18g.23898771A>TCA402046370LAMA3c.820A>T (p.Asn274Tyr)
c.5647A>T (p.Asn1883Tyr)
c.2539A>T (p.Asn847Tyr)
n.35A>T
c.425A>T
n.225A>T
c.5674A>T (p.Asn1892Tyr)
c.5665A>T (p.Asn1889Tyr)
c.5656A>T (p.Asn1886Tyr)
c.5542A>T (p.Asn1848Tyr)
c.3526A>T (p.Asn1176Tyr)
c.1216A>T (p.Asn406Tyr)
n.5915A>T
18g.23898772A=CA2290322172LAMA3c.821A= (p.Asn274=)
c.5648A= (p.Asn1883=)
c.2540A= (p.Asn847=)
n.36A=
c.426A=
n.226A=
c.5675A= (p.Asn1892=)
c.5666A= (p.Asn1889=)
c.5657A= (p.Asn1886=)
c.5543A= (p.Asn1848=)
c.3527A= (p.Asn1176=)
c.1217A= (p.Asn406=)
n.5916A=
18g.23898772A>CCA402046372LAMA3c.821A>C (p.Asn274Thr)
c.5648A>C (p.Asn1883Thr)
c.2540A>C (p.Asn847Thr)
n.36A>C
c.426A>C
n.226A>C
c.5675A>C (p.Asn1892Thr)
c.5666A>C (p.Asn1889Thr)
c.5657A>C (p.Asn1886Thr)
c.5543A>C (p.Asn1848Thr)
c.3527A>C (p.Asn1176Thr)
c.1217A>C (p.Asn406Thr)
n.5916A>C
18g.23898772A>GCA297095597LAMA3c.821A>G (p.Asn274Ser)
c.5648A>G (p.Asn1883Ser)
c.2540A>G (p.Asn847Ser)
n.36A>G
c.426A>G
n.226A>G
c.5675A>G (p.Asn1892Ser)
c.5666A>G (p.Asn1889Ser)
c.5657A>G (p.Asn1886Ser)
c.5543A>G (p.Asn1848Ser)
c.3527A>G (p.Asn1176Ser)
c.1217A>G (p.Asn406Ser)
n.5916A>G
 dbSNP gnomAD v4
18g.23898772A>TCA402046371LAMA3c.821A>T (p.Asn274Ile)
c.5648A>T (p.Asn1883Ile)
c.2540A>T (p.Asn847Ile)
n.36A>T
c.426A>T
n.226A>T
c.5675A>T (p.Asn1892Ile)
c.5666A>T (p.Asn1889Ile)
c.5657A>T (p.Asn1886Ile)
c.5543A>T (p.Asn1848Ile)
c.3527A>T (p.Asn1176Ile)
c.1217A>T (p.Asn406Ile)
n.5916A>T
18g.23898773T>ACA402046373LAMA3c.822T>A (p.Asn274Lys)
c.5649T>A (p.Asn1883Lys)
c.2541T>A (p.Asn847Lys)
n.37T>A
c.427T>A
n.227T>A
c.5676T>A (p.Asn1892Lys)
c.5667T>A (p.Asn1889Lys)
c.5658T>A (p.Asn1886Lys)
c.5544T>A (p.Asn1848Lys)
c.3528T>A (p.Asn1176Lys)
c.1218T>A (p.Asn406Lys)
n.5917T>A
 gnomAD v4
18g.23898773T>CCA503331865LAMA3c.822T>C (p.Asn274=)
c.5649T>C (p.Asn1883=)
c.2541T>C (p.Asn847=)
n.37T>C
c.427T>C
n.227T>C
c.5676T>C (p.Asn1892=)
c.5667T>C (p.Asn1889=)
c.5658T>C (p.Asn1886=)
c.5544T>C (p.Asn1848=)
c.3528T>C (p.Asn1176=)
c.1218T>C (p.Asn406=)
n.5917T>C
18g.23898773T>GCA402046374LAMA3c.822T>G (p.Asn274Lys)
c.5649T>G (p.Asn1883Lys)
c.2541T>G (p.Asn847Lys)
n.37T>G
c.427T>G
n.227T>G
c.5676T>G (p.Asn1892Lys)
c.5667T>G (p.Asn1889Lys)
c.5658T>G (p.Asn1886Lys)
c.5544T>G (p.Asn1848Lys)
c.3528T>G (p.Asn1176Lys)
c.1218T>G (p.Asn406Lys)
n.5917T>G
18g.23898774C>ACA402046375LAMA3c.823C>A (p.His275Asn)
c.5650C>A (p.His1884Asn)
c.2542C>A (p.His848Asn)
n.38C>A
c.428C>A
n.228C>A
c.5677C>A (p.His1893Asn)
c.5668C>A (p.His1890Asn)
c.5659C>A (p.His1887Asn)
c.5545C>A (p.His1849Asn)
c.3529C>A (p.His1177Asn)
c.1219C>A (p.His407Asn)
n.5918C>A
 gnomAD v4
18g.23898774C>GCA402046376LAMA3c.823C>G (p.His275Asp)
c.5650C>G (p.His1884Asp)
c.2542C>G (p.His848Asp)
n.38C>G
c.428C>G
n.228C>G
c.5677C>G (p.His1893Asp)
c.5668C>G (p.His1890Asp)
c.5659C>G (p.His1887Asp)
c.5545C>G (p.His1849Asp)
c.3529C>G (p.His1177Asp)
c.1219C>G (p.His407Asp)
n.5918C>G
18g.23898774C>TCA402046377LAMA3c.823C>T (p.His275Tyr)
c.5650C>T (p.His1884Tyr)
c.2542C>T (p.His848Tyr)
n.38C>T
c.428C>T
n.228C>T
c.5677C>T (p.His1893Tyr)
c.5668C>T (p.His1890Tyr)
c.5659C>T (p.His1887Tyr)
c.5545C>T (p.His1849Tyr)
c.3529C>T (p.His1177Tyr)
c.1219C>T (p.His407Tyr)
n.5918C>T
 COSMIC COSMIC
18g.23898775A=CA2290322173LAMA3c.824A= (p.His275=)
c.5651A= (p.His1884=)
c.2543A= (p.His848=)
n.39A=
c.429A=
n.229A=
c.5678A= (p.His1893=)
c.5669A= (p.His1890=)
c.5660A= (p.His1887=)
c.5546A= (p.His1849=)
c.3530A= (p.His1177=)
c.1220A= (p.His407=)
n.5919A=
18g.23898775A>CCA402046378LAMA3c.824A>C (p.His275Pro)
c.5651A>C (p.His1884Pro)
c.2543A>C (p.His848Pro)
n.39A>C
c.429A>C
n.229A>C
c.5678A>C (p.His1893Pro)
c.5669A>C (p.His1890Pro)
c.5660A>C (p.His1887Pro)
c.5546A>C (p.His1849Pro)
c.3530A>C (p.His1177Pro)
c.1220A>C (p.His407Pro)
n.5919A>C
18g.23898775A>GCA402046380LAMA3c.824A>G (p.His275Arg)
c.5651A>G (p.His1884Arg)
c.2543A>G (p.His848Arg)
n.39A>G
c.429A>G
n.229A>G
c.5678A>G (p.His1893Arg)
c.5669A>G (p.His1890Arg)
c.5660A>G (p.His1887Arg)
c.5546A>G (p.His1849Arg)
c.3530A>G (p.His1177Arg)
c.1220A>G (p.His407Arg)
n.5919A>G
18g.23898775A>TCA402046379LAMA3c.824A>T (p.His275Leu)
c.5651A>T (p.His1884Leu)
c.2543A>T (p.His848Leu)
n.39A>T
c.429A>T
n.229A>T
c.5678A>T (p.His1893Leu)
c.5669A>T (p.His1890Leu)
c.5660A>T (p.His1887Leu)
c.5546A>T (p.His1849Leu)
c.3530A>T (p.His1177Leu)
c.1220A>T (p.His407Leu)
n.5919A>T
 dbSNP gnomAD v2 gnomAD v4
18g.23898776T>ACA402046381LAMA3c.825T>A (p.His275Gln)
c.5652T>A (p.His1884Gln)
c.2544T>A (p.His848Gln)
n.40T>A
c.430T>A
n.230T>A
c.5679T>A (p.His1893Gln)
c.5670T>A (p.His1890Gln)
c.5661T>A (p.His1887Gln)
c.5547T>A (p.His1849Gln)
c.3531T>A (p.His1177Gln)
c.1221T>A (p.His407Gln)
n.5920T>A
 gnomAD v4
18g.23898776T>CCA503331866LAMA3c.825T>C (p.His275=)
c.5652T>C (p.His1884=)
c.2544T>C (p.His848=)
n.40T>C
c.430T>C
n.230T>C
c.5679T>C (p.His1893=)
c.5670T>C (p.His1890=)
c.5661T>C (p.His1887=)
c.5547T>C (p.His1849=)
c.3531T>C (p.His1177=)
c.1221T>C (p.His407=)
n.5920T>C
 ClinVar
18g.23898776T>GCA402046382LAMA3c.825T>G (p.His275Gln)
c.5652T>G (p.His1884Gln)
c.2544T>G (p.His848Gln)
n.40T>G
c.430T>G
n.230T>G
c.5679T>G (p.His1893Gln)
c.5670T>G (p.His1890Gln)
c.5661T>G (p.His1887Gln)
c.5547T>G (p.His1849Gln)
c.3531T>G (p.His1177Gln)
c.1221T>G (p.His407Gln)
n.5920T>G
18g.23898777G>ACA402046383LAMA3c.826G>A (p.Gly276Arg)
c.5653G>A (p.Gly1885Arg)
c.2545G>A (p.Gly849Arg)
n.41G>A
c.431G>A
n.231G>A
c.5680G>A (p.Gly1894Arg)
c.5671G>A (p.Gly1891Arg)
c.5662G>A (p.Gly1888Arg)
c.5548G>A (p.Gly1850Arg)
c.3532G>A (p.Gly1178Arg)
c.1222G>A (p.Gly408Arg)
n.5921G>A
18g.23898777G>CCA402046384LAMA3c.826G>C (p.Gly276Arg)
c.5653G>C (p.Gly1885Arg)
c.2545G>C (p.Gly849Arg)
n.41G>C
c.431G>C
n.231G>C
c.5680G>C (p.Gly1894Arg)
c.5671G>C (p.Gly1891Arg)
c.5662G>C (p.Gly1888Arg)
c.5548G>C (p.Gly1850Arg)
c.3532G>C (p.Gly1178Arg)
c.1222G>C (p.Gly408Arg)
n.5921G>C
18g.23898777G>TCA402046385LAMA3c.826G>T (p.Gly276Ter)
c.5653G>T (p.Gly1885Ter)
c.2545G>T (p.Gly849Ter)
n.41G>T
c.431G>T
n.231G>T
c.5680G>T (p.Gly1894Ter)
c.5671G>T (p.Gly1891Ter)
c.5662G>T (p.Gly1888Ter)
c.5548G>T (p.Gly1850Ter)
c.3532G>T (p.Gly1178Ter)
c.1222G>T (p.Gly408Ter)
n.5921G>T
18g.23898778G>ACA402046386LAMA3c.827G>A (p.Gly276Glu)
c.5654G>A (p.Gly1885Glu)
c.2546G>A (p.Gly849Glu)
n.42G>A
c.432G>A
n.232G>A
c.5681G>A (p.Gly1894Glu)
c.5672G>A (p.Gly1891Glu)
c.5663G>A (p.Gly1888Glu)
c.5549G>A (p.Gly1850Glu)
c.3533G>A (p.Gly1178Glu)
c.1223G>A (p.Gly408Glu)
n.5922G>A
18g.23898778G>CCA402046387LAMA3c.827G>C (p.Gly276Ala)
c.5654G>C (p.Gly1885Ala)
c.2546G>C (p.Gly849Ala)
n.42G>C
c.432G>C
n.232G>C
c.5681G>C (p.Gly1894Ala)
c.5672G>C (p.Gly1891Ala)
c.5663G>C (p.Gly1888Ala)
c.5549G>C (p.Gly1850Ala)
c.3533G>C (p.Gly1178Ala)
c.1223G>C (p.Gly408Ala)
n.5922G>C
 COSMIC COSMIC
18g.23898778G=CA2290322174LAMA3c.827G= (p.Gly276=)
c.5654G= (p.Gly1885=)
c.2546G= (p.Gly849=)
n.42G=
c.432G=
n.232G=
c.5681G= (p.Gly1894=)
c.5672G= (p.Gly1891=)
c.5663G= (p.Gly1888=)
c.5549G= (p.Gly1850=)
c.3533G= (p.Gly1178=)
c.1223G= (p.Gly408=)
n.5922G=
18g.23898778G>TCA402046388LAMA3c.827G>T (p.Gly276Val)
c.5654G>T (p.Gly1885Val)
c.2546G>T (p.Gly849Val)
n.42G>T
c.432G>T
n.232G>T
c.5681G>T (p.Gly1894Val)
c.5672G>T (p.Gly1891Val)
c.5663G>T (p.Gly1888Val)
c.5549G>T (p.Gly1850Val)
c.3533G>T (p.Gly1178Val)
c.1223G>T (p.Gly408Val)
n.5922G>T
 dbSNP gnomAD v3 gnomAD v4
18g.23898779A>CCA503331867LAMA3c.828A>C (p.Gly276=)
c.5655A>C (p.Gly1885=)
c.2547A>C (p.Gly849=)
n.43A>C
c.433A>C
n.233A>C
c.5682A>C (p.Gly1894=)
c.5673A>C (p.Gly1891=)
c.5664A>C (p.Gly1888=)
c.5550A>C (p.Gly1850=)
c.3534A>C (p.Gly1178=)
c.1224A>C (p.Gly408=)
n.5923A>C
18g.23898779A>GCA503331868LAMA3c.828A>G (p.Gly276=)
c.5655A>G (p.Gly1885=)
c.2547A>G (p.Gly849=)
n.43A>G
c.433A>G
n.233A>G
c.5682A>G (p.Gly1894=)
c.5673A>G (p.Gly1891=)
c.5664A>G (p.Gly1888=)
c.5550A>G (p.Gly1850=)
c.3534A>G (p.Gly1178=)
c.1224A>G (p.Gly408=)
n.5923A>G
 ClinVar
18g.23898779A>TCA503331869LAMA3c.828A>T (p.Gly276=)
c.5655A>T (p.Gly1885=)
c.2547A>T (p.Gly849=)
n.43A>T
c.433A>T
n.233A>T
c.5682A>T (p.Gly1894=)
c.5673A>T (p.Gly1891=)
c.5664A>T (p.Gly1888=)
c.5550A>T (p.Gly1850=)
c.3534A>T (p.Gly1178=)
c.1224A>T (p.Gly408=)
n.5923A>T
18g.23898780T>ACA402046389LAMA3c.829T>A (p.Ser277Thr)
c.5656T>A (p.Ser1886Thr)
c.2548T>A (p.Ser850Thr)
n.44T>A
c.434T>A
n.234T>A
c.5683T>A (p.Ser1895Thr)
c.5674T>A (p.Ser1892Thr)
c.5665T>A (p.Ser1889Thr)
c.5551T>A (p.Ser1851Thr)
c.3535T>A (p.Ser1179Thr)
c.1225T>A (p.Ser409Thr)
n.5924T>A
 dbSNP gnomAD v4
18g.23898780T>CCA402046390LAMA3c.829T>C (p.Ser277Pro)
c.5656T>C (p.Ser1886Pro)
c.2548T>C (p.Ser850Pro)
n.44T>C
c.434T>C
n.234T>C
c.5683T>C (p.Ser1895Pro)
c.5674T>C (p.Ser1892Pro)
c.5665T>C (p.Ser1889Pro)
c.5551T>C (p.Ser1851Pro)
c.3535T>C (p.Ser1179Pro)
c.1225T>C (p.Ser409Pro)
n.5924T>C
18g.23898780T>GCA402046391LAMA3c.829T>G (p.Ser277Ala)
c.5656T>G (p.Ser1886Ala)
c.2548T>G (p.Ser850Ala)
n.44T>G
c.434T>G
n.234T>G
c.5683T>G (p.Ser1895Ala)
c.5674T>G (p.Ser1892Ala)
c.5665T>G (p.Ser1889Ala)
c.5551T>G (p.Ser1851Ala)
c.3535T>G (p.Ser1179Ala)
c.1225T>G (p.Ser409Ala)
n.5924T>G
18g.23898780T=CA2290322175LAMA3c.829T= (p.Ser277=)
c.5656T= (p.Ser1886=)
c.2548T= (p.Ser850=)
n.44T=
c.434T=
n.234T=
c.5683T= (p.Ser1895=)
c.5674T= (p.Ser1892=)
c.5665T= (p.Ser1889=)
c.5551T= (p.Ser1851=)
c.3535T= (p.Ser1179=)
c.1225T= (p.Ser409=)
n.5924T=
18g.23898781C>ACA402046392LAMA3c.830C>A (p.Ser277Ter)
c.5657C>A (p.Ser1886Ter)
c.2549C>A (p.Ser850Ter)
n.45C>A
c.435C>A
n.235C>A
c.5684C>A (p.Ser1895Ter)
c.5675C>A (p.Ser1892Ter)
c.5666C>A (p.Ser1889Ter)
c.5552C>A (p.Ser1851Ter)
c.3536C>A (p.Ser1179Ter)
c.1226C>A (p.Ser409Ter)
n.5925C>A
 gnomAD v4
18g.23898781C>GCA402046394LAMA3c.830C>G (p.Ser277Ter)
c.5657C>G (p.Ser1886Ter)
c.2549C>G (p.Ser850Ter)
n.45C>G
c.435C>G
n.235C>G
c.5684C>G (p.Ser1895Ter)
c.5675C>G (p.Ser1892Ter)
c.5666C>G (p.Ser1889Ter)
c.5552C>G (p.Ser1851Ter)
c.3536C>G (p.Ser1179Ter)
c.1226C>G (p.Ser409Ter)
n.5925C>G
18g.23898781C>TCA402046393LAMA3c.830C>T (p.Ser277Leu)
c.5657C>T (p.Ser1886Leu)
c.2549C>T (p.Ser850Leu)
n.45C>T
c.435C>T
n.235C>T
c.5684C>T (p.Ser1895Leu)
c.5675C>T (p.Ser1892Leu)
c.5666C>T (p.Ser1889Leu)
c.5552C>T (p.Ser1851Leu)
c.3536C>T (p.Ser1179Leu)
c.1226C>T (p.Ser409Leu)
n.5925C>T
18g.23898782A=CA2290322176LAMA3c.831A= (p.Ser277=)
c.5658A= (p.Ser1886=)
c.2550A= (p.Ser850=)
n.46A=
c.436A=
n.236A=
c.5685A= (p.Ser1895=)
c.5676A= (p.Ser1892=)
c.5667A= (p.Ser1889=)
c.5553A= (p.Ser1851=)
c.3537A= (p.Ser1179=)
c.1227A= (p.Ser409=)
n.5926A=
18g.23898782A>CCA503331870LAMA3c.831A>C (p.Ser277=)
c.5658A>C (p.Ser1886=)
c.2550A>C (p.Ser850=)
n.46A>C
c.436A>C
n.236A>C
c.5685A>C (p.Ser1895=)
c.5676A>C (p.Ser1892=)
c.5667A>C (p.Ser1889=)
c.5553A>C (p.Ser1851=)
c.3537A>C (p.Ser1179=)
c.1227A>C (p.Ser409=)
n.5926A>C
 ClinVar
18g.23898782A>GCA8916135LAMA3c.831A>G (p.Ser277=)
c.5658A>G (p.Ser1886=)
c.2550A>G (p.Ser850=)
n.46A>G
c.436A>G
n.236A>G
c.5685A>G (p.Ser1895=)
c.5676A>G (p.Ser1892=)
c.5667A>G (p.Ser1889=)
c.5553A>G (p.Ser1851=)
c.3537A>G (p.Ser1179=)
c.1227A>G (p.Ser409=)
n.5926A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23898782A>TCA503331871LAMA3c.831A>T (p.Ser277=)
c.5658A>T (p.Ser1886=)
c.2550A>T (p.Ser850=)
n.46A>T
c.436A>T
n.236A>T
c.5685A>T (p.Ser1895=)
c.5676A>T (p.Ser1892=)
c.5667A>T (p.Ser1889=)
c.5553A>T (p.Ser1851=)
c.3537A>T (p.Ser1179=)
c.1227A>T (p.Ser409=)
n.5926A>T
18g.23898783A>CCA402046396LAMA3c.832A>C (p.Lys278Gln)
c.5659A>C (p.Lys1887Gln)
c.2551A>C (p.Lys851Gln)
n.47A>C
c.437A>C
n.237A>C
c.5686A>C (p.Lys1896Gln)
c.5677A>C (p.Lys1893Gln)
c.5668A>C (p.Lys1890Gln)
c.5554A>C (p.Lys1852Gln)
c.3538A>C (p.Lys1180Gln)
c.1228A>C (p.Lys410Gln)
n.5927A>C
18g.23898783A>GCA402046395LAMA3c.832A>G (p.Lys278Glu)
c.5659A>G (p.Lys1887Glu)
c.2551A>G (p.Lys851Glu)
n.47A>G
c.437A>G
n.237A>G
c.5686A>G (p.Lys1896Glu)
c.5677A>G (p.Lys1893Glu)
c.5668A>G (p.Lys1890Glu)
c.5554A>G (p.Lys1852Glu)
c.3538A>G (p.Lys1180Glu)
c.1228A>G (p.Lys410Glu)
n.5927A>G
18g.23898783A>TCA402046397LAMA3c.832A>T (p.Lys278Ter)
c.5659A>T (p.Lys1887Ter)
c.2551A>T (p.Lys851Ter)
n.47A>T
c.437A>T
n.237A>T
c.5686A>T (p.Lys1896Ter)
c.5677A>T (p.Lys1893Ter)
c.5668A>T (p.Lys1890Ter)
c.5554A>T (p.Lys1852Ter)
c.3538A>T (p.Lys1180Ter)
c.1228A>T (p.Lys410Ter)
n.5927A>T
18g.23898784A>CCA402046398LAMA3c.833A>C (p.Lys278Thr)
c.5660A>C (p.Lys1887Thr)
c.2552A>C (p.Lys851Thr)
n.48A>C
c.438A>C
n.238A>C
c.5687A>C (p.Lys1896Thr)
c.5678A>C (p.Lys1893Thr)
c.5669A>C (p.Lys1890Thr)
c.5555A>C (p.Lys1852Thr)
c.3539A>C (p.Lys1180Thr)
c.1229A>C (p.Lys410Thr)
n.5928A>C
18g.23898784A>GCA402046399LAMA3c.833A>G (p.Lys278Arg)
c.5660A>G (p.Lys1887Arg)
c.2552A>G (p.Lys851Arg)
n.48A>G
c.438A>G
n.238A>G
c.5687A>G (p.Lys1896Arg)
c.5678A>G (p.Lys1893Arg)
c.5669A>G (p.Lys1890Arg)
c.5555A>G (p.Lys1852Arg)
c.3539A>G (p.Lys1180Arg)
c.1229A>G (p.Lys410Arg)
n.5928A>G
18g.23898784A>TCA402046400LAMA3c.833A>T (p.Lys278Ile)
c.5660A>T (p.Lys1887Ile)
c.2552A>T (p.Lys851Ile)
n.48A>T
c.438A>T
n.238A>T
c.5687A>T (p.Lys1896Ile)
c.5678A>T (p.Lys1893Ile)
c.5669A>T (p.Lys1890Ile)
c.5555A>T (p.Lys1852Ile)
c.3539A>T (p.Lys1180Ile)
c.1229A>T (p.Lys410Ile)
n.5928A>T
18g.23898785A>CCA402046401LAMA3c.834A>C (p.Lys278Asn)
c.5661A>C (p.Lys1887Asn)
c.2553A>C (p.Lys851Asn)
n.49A>C
c.439A>C
n.239A>C
c.5688A>C (p.Lys1896Asn)
c.5679A>C (p.Lys1893Asn)
c.5670A>C (p.Lys1890Asn)
c.5556A>C (p.Lys1852Asn)
c.3540A>C (p.Lys1180Asn)
c.1230A>C (p.Lys410Asn)
n.5929A>C
18g.23898785A>GCA503331872LAMA3c.834A>G (p.Lys278=)
c.5661A>G (p.Lys1887=)
c.2553A>G (p.Lys851=)
n.49A>G
c.439A>G
n.239A>G
c.5688A>G (p.Lys1896=)
c.5679A>G (p.Lys1893=)
c.5670A>G (p.Lys1890=)
c.5556A>G (p.Lys1852=)
c.3540A>G (p.Lys1180=)
c.1230A>G (p.Lys410=)
n.5929A>G
18g.23898785A>TCA402046402LAMA3c.834A>T (p.Lys278Asn)
c.5661A>T (p.Lys1887Asn)
c.2553A>T (p.Lys851Asn)
n.49A>T
c.439A>T
n.239A>T
c.5688A>T (p.Lys1896Asn)
c.5679A>T (p.Lys1893Asn)
c.5670A>T (p.Lys1890Asn)
c.5556A>T (p.Lys1852Asn)
c.3540A>T (p.Lys1180Asn)
c.1230A>T (p.Lys410Asn)
n.5929A>T
18g.23898786A=CA2290322177LAMA3c.835A= (p.Ile279=)
c.5662A= (p.Ile1888=)
c.2554A= (p.Ile852=)
n.50A=
c.440A=
n.240A=
c.5689A= (p.Ile1897=)
c.5680A= (p.Ile1894=)
c.5671A= (p.Ile1891=)
c.5557A= (p.Ile1853=)
c.3541A= (p.Ile1181=)
c.1231A= (p.Ile411=)
n.5930A=
18g.23898786A>CCA402046403LAMA3c.835A>C (p.Ile279Leu)
c.5662A>C (p.Ile1888Leu)
c.2554A>C (p.Ile852Leu)
n.50A>C
c.440A>C
n.240A>C
c.5689A>C (p.Ile1897Leu)
c.5680A>C (p.Ile1894Leu)
c.5671A>C (p.Ile1891Leu)
c.5557A>C (p.Ile1853Leu)
c.3541A>C (p.Ile1181Leu)
c.1231A>C (p.Ile411Leu)
n.5930A>C
18g.23898786A>GCA297095605LAMA3c.835A>G (p.Ile279Val)
c.5662A>G (p.Ile1888Val)
c.2554A>G (p.Ile852Val)
n.50A>G
c.440A>G
n.240A>G
c.5689A>G (p.Ile1897Val)
c.5680A>G (p.Ile1894Val)
c.5671A>G (p.Ile1891Val)
c.5557A>G (p.Ile1853Val)
c.3541A>G (p.Ile1181Val)
c.1231A>G (p.Ile411Val)
n.5930A>G
 dbSNP
18g.23898786A>TCA402046404LAMA3c.835A>T (p.Ile279Leu)
c.5662A>T (p.Ile1888Leu)
c.2554A>T (p.Ile852Leu)
n.50A>T
c.440A>T
n.240A>T
c.5689A>T (p.Ile1897Leu)
c.5680A>T (p.Ile1894Leu)
c.5671A>T (p.Ile1891Leu)
c.5557A>T (p.Ile1853Leu)
c.3541A>T (p.Ile1181Leu)
c.1231A>T (p.Ile411Leu)
n.5930A>T
18g.23898787T>ACA402046405LAMA3c.836T>A (p.Ile279Lys)
c.5663T>A (p.Ile1888Lys)
c.2555T>A (p.Ile852Lys)
n.51T>A
c.441T>A
n.241T>A
c.5690T>A (p.Ile1897Lys)
c.5681T>A (p.Ile1894Lys)
c.5672T>A (p.Ile1891Lys)
c.5558T>A (p.Ile1853Lys)
c.3542T>A (p.Ile1181Lys)
c.1232T>A (p.Ile411Lys)
n.5931T>A
 dbSNP gnomAD v2
18g.23898787T>CCA402046406LAMA3c.836T>C (p.Ile279Thr)
c.5663T>C (p.Ile1888Thr)
c.2555T>C (p.Ile852Thr)
n.51T>C
c.441T>C
n.241T>C
c.5690T>C (p.Ile1897Thr)
c.5681T>C (p.Ile1894Thr)
c.5672T>C (p.Ile1891Thr)
c.5558T>C (p.Ile1853Thr)
c.3542T>C (p.Ile1181Thr)
c.1232T>C (p.Ile411Thr)
n.5931T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23898787T>GCA402046407LAMA3c.836T>G (p.Ile279Arg)
c.5663T>G (p.Ile1888Arg)
c.2555T>G (p.Ile852Arg)
n.51T>G
c.441T>G
n.241T>G
c.5690T>G (p.Ile1897Arg)
c.5681T>G (p.Ile1894Arg)
c.5672T>G (p.Ile1891Arg)
c.5558T>G (p.Ile1853Arg)
c.3542T>G (p.Ile1181Arg)
c.1232T>G (p.Ile411Arg)
n.5931T>G
 gnomAD v4
18g.23898787T=CA2290322178LAMA3c.836T= (p.Ile279=)
c.5663T= (p.Ile1888=)
c.2555T= (p.Ile852=)
n.51T=
c.441T=
n.241T=
c.5690T= (p.Ile1897=)
c.5681T= (p.Ile1894=)
c.5672T= (p.Ile1891=)
c.5558T= (p.Ile1853=)
c.3542T= (p.Ile1181=)
c.1232T= (p.Ile411=)
n.5931T=
18g.23898788A=CA2290322179LAMA3c.837A= (p.Ile279=)
c.5664A= (p.Ile1888=)
c.2556A= (p.Ile852=)
n.52A=
c.442A=
n.242A=
c.5691A= (p.Ile1897=)
c.5682A= (p.Ile1894=)
c.5673A= (p.Ile1891=)
c.5559A= (p.Ile1853=)
c.3543A= (p.Ile1181=)
c.1233A= (p.Ile411=)
n.5932A=
18g.23898788A>CCA8916136LAMA3c.837A>C (p.Ile279=)
c.5664A>C (p.Ile1888=)
c.2556A>C (p.Ile852=)
n.52A>C
c.442A>C
n.242A>C
c.5691A>C (p.Ile1897=)
c.5682A>C (p.Ile1894=)
c.5673A>C (p.Ile1891=)
c.5559A>C (p.Ile1853=)
c.3543A>C (p.Ile1181=)
c.1233A>C (p.Ile411=)
n.5932A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23898788A>GCA402046408LAMA3c.837A>G (p.Ile279Met)
c.5664A>G (p.Ile1888Met)
c.2556A>G (p.Ile852Met)
n.52A>G
c.442A>G
n.242A>G
c.5691A>G (p.Ile1897Met)
c.5682A>G (p.Ile1894Met)
c.5673A>G (p.Ile1891Met)
c.5559A>G (p.Ile1853Met)
c.3543A>G (p.Ile1181Met)
c.1233A>G (p.Ile411Met)
n.5932A>G
18g.23898788A>TCA503331873LAMA3c.837A>T (p.Ile279=)
c.5664A>T (p.Ile1888=)
c.2556A>T (p.Ile852=)
n.52A>T
c.442A>T
n.242A>T
c.5691A>T (p.Ile1897=)
c.5682A>T (p.Ile1894=)
c.5673A>T (p.Ile1891=)
c.5559A>T (p.Ile1853=)
c.3543A>T (p.Ile1181=)
c.1233A>T (p.Ile411=)
n.5932A>T
18g.23898789G>ACA402046409LAMA3c.838G>A (p.Glu280Lys)
c.5665G>A (p.Glu1889Lys)
c.2557G>A (p.Glu853Lys)
n.53G>A
c.443G>A
n.243G>A
c.5692G>A (p.Glu1898Lys)
c.5683G>A (p.Glu1895Lys)
c.5674G>A (p.Glu1892Lys)
c.5560G>A (p.Glu1854Lys)
c.3544G>A (p.Glu1182Lys)
c.1234G>A (p.Glu412Lys)
n.5933G>A
18g.23898789G>CCA402046411LAMA3c.838G>C (p.Glu280Gln)
c.5665G>C (p.Glu1889Gln)
c.2557G>C (p.Glu853Gln)
n.53G>C
c.443G>C
n.243G>C
c.5692G>C (p.Glu1898Gln)
c.5683G>C (p.Glu1895Gln)
c.5674G>C (p.Glu1892Gln)
c.5560G>C (p.Glu1854Gln)
c.3544G>C (p.Glu1182Gln)
c.1234G>C (p.Glu412Gln)
n.5933G>C
18g.23898789G>TCA402046410LAMA3c.838G>T (p.Glu280Ter)
c.5665G>T (p.Glu1889Ter)
c.2557G>T (p.Glu853Ter)
n.53G>T
c.443G>T
n.243G>T
c.5692G>T (p.Glu1898Ter)
c.5683G>T (p.Glu1895Ter)
c.5674G>T (p.Glu1892Ter)
c.5560G>T (p.Glu1854Ter)
c.3544G>T (p.Glu1182Ter)
c.1234G>T (p.Glu412Ter)
n.5933G>T
18g.23898790A>CCA402046412LAMA3c.839A>C (p.Glu280Ala)
c.5666A>C (p.Glu1889Ala)
c.2558A>C (p.Glu853Ala)
n.54A>C
c.444A>C
n.244A>C
c.5693A>C (p.Glu1898Ala)
c.5684A>C (p.Glu1895Ala)
c.5675A>C (p.Glu1892Ala)
c.5561A>C (p.Glu1854Ala)
c.3545A>C (p.Glu1182Ala)
c.1235A>C (p.Glu412Ala)
n.5934A>C
18g.23898790A>GCA402046413LAMA3c.839A>G (p.Glu280Gly)
c.5666A>G (p.Glu1889Gly)
c.2558A>G (p.Glu853Gly)
n.54A>G
c.444A>G
n.244A>G
c.5693A>G (p.Glu1898Gly)
c.5684A>G (p.Glu1895Gly)
c.5675A>G (p.Glu1892Gly)
c.5561A>G (p.Glu1854Gly)
c.3545A>G (p.Glu1182Gly)
c.1235A>G (p.Glu412Gly)
n.5934A>G
18g.23898790A>TCA402046414LAMA3c.839A>T (p.Glu280Val)
c.5666A>T (p.Glu1889Val)
c.2558A>T (p.Glu853Val)
n.54A>T
c.444A>T
n.244A>T
c.5693A>T (p.Glu1898Val)
c.5684A>T (p.Glu1895Val)
c.5675A>T (p.Glu1892Val)
c.5561A>T (p.Glu1854Val)
c.3545A>T (p.Glu1182Val)
c.1235A>T (p.Glu412Val)
n.5934A>T
18g.23898791A=CA2290322180LAMA3c.840A= (p.Glu280=)
c.5667A= (p.Glu1889=)
c.2559A= (p.Glu853=)
n.55A=
c.445A=
n.245A=
c.5694A= (p.Glu1898=)
c.5685A= (p.Glu1895=)
c.5676A= (p.Glu1892=)
c.5562A= (p.Glu1854=)
c.3546A= (p.Glu1182=)
c.1236A= (p.Glu412=)
n.5935A=
18g.23898791A>CCA402046415LAMA3c.840A>C (p.Glu280Asp)
c.5667A>C (p.Glu1889Asp)
c.2559A>C (p.Glu853Asp)
n.55A>C
c.445A>C
n.245A>C
c.5694A>C (p.Glu1898Asp)
c.5685A>C (p.Glu1895Asp)
c.5676A>C (p.Glu1892Asp)
c.5562A>C (p.Glu1854Asp)
c.3546A>C (p.Glu1182Asp)
c.1236A>C (p.Glu412Asp)
n.5935A>C
18g.23898791A>GCA297095613LAMA3c.840A>G (p.Glu280=)
c.5667A>G (p.Glu1889=)
c.2559A>G (p.Glu853=)
n.55A>G
c.445A>G
n.245A>G
c.5694A>G (p.Glu1898=)
c.5685A>G (p.Glu1895=)
c.5676A>G (p.Glu1892=)
c.5562A>G (p.Glu1854=)
c.3546A>G (p.Glu1182=)
c.1236A>G (p.Glu412=)
n.5935A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23898791A>TCA402046416LAMA3c.840A>T (p.Glu280Asp)
c.5667A>T (p.Glu1889Asp)
c.2559A>T (p.Glu853Asp)
n.55A>T
c.445A>T
n.245A>T
c.5694A>T (p.Glu1898Asp)
c.5685A>T (p.Glu1895Asp)
c.5676A>T (p.Glu1892Asp)
c.5562A>T (p.Glu1854Asp)
c.3546A>T (p.Glu1182Asp)
c.1236A>T (p.Glu412Asp)
n.5935A>T
18g.23898792G>ACA402046417LAMA3c.841G>A (p.Gly281Ser)
c.5668G>A (p.Gly1890Ser)
c.2560G>A (p.Gly854Ser)
n.56G>A
c.446G>A
n.246G>A
c.5695G>A (p.Gly1899Ser)
c.5686G>A (p.Gly1896Ser)
c.5677G>A (p.Gly1893Ser)
c.5563G>A (p.Gly1855Ser)
c.3547G>A (p.Gly1183Ser)
c.1237G>A (p.Gly413Ser)
n.5936G>A
 dbSNP
18g.23898792G>CCA402046418LAMA3c.841G>C (p.Gly281Arg)
c.5668G>C (p.Gly1890Arg)
c.2560G>C (p.Gly854Arg)
n.56G>C
c.446G>C
n.246G>C
c.5695G>C (p.Gly1899Arg)
c.5686G>C (p.Gly1896Arg)
c.5677G>C (p.Gly1893Arg)
c.5563G>C (p.Gly1855Arg)
c.3547G>C (p.Gly1183Arg)
c.1237G>C (p.Gly413Arg)
n.5936G>C
 gnomAD v4
18g.23898792G=CA2290322181LAMA3c.841G= (p.Gly281=)
c.5668G= (p.Gly1890=)
c.2560G= (p.Gly854=)
n.56G=
c.446G=
n.246G=
c.5695G= (p.Gly1899=)
c.5686G= (p.Gly1896=)
c.5677G= (p.Gly1893=)
c.5563G= (p.Gly1855=)
c.3547G= (p.Gly1183=)
c.1237G= (p.Gly413=)
n.5936G=
18g.23898792G>TCA402046419LAMA3c.841G>T (p.Gly281Cys)
c.5668G>T (p.Gly1890Cys)
c.2560G>T (p.Gly854Cys)
n.56G>T
c.446G>T
n.246G>T
c.5695G>T (p.Gly1899Cys)
c.5686G>T (p.Gly1896Cys)
c.5677G>T (p.Gly1893Cys)
c.5563G>T (p.Gly1855Cys)
c.3547G>T (p.Gly1183Cys)
c.1237G>T (p.Gly413Cys)
n.5936G>T
18g.23898793G>ACA402046420LAMA3c.842G>A (p.Gly281Asp)
c.5669G>A (p.Gly1890Asp)
c.2561G>A (p.Gly854Asp)
n.57G>A
c.447G>A
n.247G>A
c.5696G>A (p.Gly1899Asp)
c.5687G>A (p.Gly1896Asp)
c.5678G>A (p.Gly1893Asp)
c.5564G>A (p.Gly1855Asp)
c.3548G>A (p.Gly1183Asp)
c.1238G>A (p.Gly413Asp)
n.5937G>A
18g.23898793G>CCA402046421LAMA3c.842G>C (p.Gly281Ala)
c.5669G>C (p.Gly1890Ala)
c.2561G>C (p.Gly854Ala)
n.57G>C
c.447G>C
n.247G>C
c.5696G>C (p.Gly1899Ala)
c.5687G>C (p.Gly1896Ala)
c.5678G>C (p.Gly1893Ala)
c.5564G>C (p.Gly1855Ala)
c.3548G>C (p.Gly1183Ala)
c.1238G>C (p.Gly413Ala)
n.5937G>C
18g.23898793G=CA2290322182LAMA3c.842G= (p.Gly281=)
c.5669G= (p.Gly1890=)
c.2561G= (p.Gly854=)
n.57G=
c.447G=
n.247G=
c.5696G= (p.Gly1899=)
c.5687G= (p.Gly1896=)
c.5678G= (p.Gly1893=)
c.5564G= (p.Gly1855=)
c.3548G= (p.Gly1183=)
c.1238G= (p.Gly413=)
n.5937G=
18g.23898793G>TCA297095616LAMA3c.842G>T (p.Gly281Val)
c.5669G>T (p.Gly1890Val)
c.2561G>T (p.Gly854Val)
n.57G>T
c.447G>T
n.247G>T
c.5696G>T (p.Gly1899Val)
c.5687G>T (p.Gly1896Val)
c.5678G>T (p.Gly1893Val)
c.5564G>T (p.Gly1855Val)
c.3548G>T (p.Gly1183Val)
c.1238G>T (p.Gly413Val)
n.5937G>T
 dbSNP
18g.23898794C>ACA503331874LAMA3c.843C>A (p.Gly281=)
c.5670C>A (p.Gly1890=)
c.2562C>A (p.Gly854=)
n.58C>A
c.448C>A
n.248C>A
c.5697C>A (p.Gly1899=)
c.5688C>A (p.Gly1896=)
c.5679C>A (p.Gly1893=)
c.5565C>A (p.Gly1855=)
c.3549C>A (p.Gly1183=)
c.1239C>A (p.Gly413=)
n.5938C>A
 gnomAD v4
18g.23898794C>GCA503331875LAMA3c.843C>G (p.Gly281=)
c.5670C>G (p.Gly1890=)
c.2562C>G (p.Gly854=)
n.58C>G
c.448C>G
n.248C>G
c.5697C>G (p.Gly1899=)
c.5688C>G (p.Gly1896=)
c.5679C>G (p.Gly1893=)
c.5565C>G (p.Gly1855=)
c.3549C>G (p.Gly1183=)
c.1239C>G (p.Gly413=)
n.5938C>G
18g.23898794C>TCA503331876LAMA3c.843C>T (p.Gly281=)
c.5670C>T (p.Gly1890=)
c.2562C>T (p.Gly854=)
n.58C>T
c.448C>T
n.248C>T
c.5697C>T (p.Gly1899=)
c.5688C>T (p.Gly1896=)
c.5679C>T (p.Gly1893=)
c.5565C>T (p.Gly1855=)
c.3549C>T (p.Gly1183=)
c.1239C>T (p.Gly413=)
n.5938C>T
18g.23898795C>ACA402046423LAMA3c.844C>A (p.Leu282Met)
c.5671C>A (p.Leu1891Met)
c.2563C>A (p.Leu855Met)
n.59C>A
c.449C>A
n.249C>A
c.5698C>A (p.Leu1900Met)
c.5689C>A (p.Leu1897Met)
c.5680C>A (p.Leu1894Met)
c.5566C>A (p.Leu1856Met)
c.3550C>A (p.Leu1184Met)
c.1240C>A (p.Leu414Met)
n.5939C>A
18g.23898795C>GCA402046422LAMA3c.844C>G (p.Leu282Val)
c.5671C>G (p.Leu1891Val)
c.2563C>G (p.Leu855Val)
n.59C>G
c.449C>G
n.249C>G
c.5698C>G (p.Leu1900Val)
c.5689C>G (p.Leu1897Val)
c.5680C>G (p.Leu1894Val)
c.5566C>G (p.Leu1856Val)
c.3550C>G (p.Leu1184Val)
c.1240C>G (p.Leu414Val)
n.5939C>G
18g.23898795C>TCA503331877LAMA3c.844C>T (p.Leu282=)
c.5671C>T (p.Leu1891=)
c.2563C>T (p.Leu855=)
n.59C>T
c.449C>T
n.249C>T
c.5698C>T (p.Leu1900=)
c.5689C>T (p.Leu1897=)
c.5680C>T (p.Leu1894=)
c.5566C>T (p.Leu1856=)
c.3550C>T (p.Leu1184=)
c.1240C>T (p.Leu414=)
n.5939C>T
18g.23898796T>ACA402046424LAMA3c.845T>A (p.Leu282Gln)
c.5672T>A (p.Leu1891Gln)
c.2564T>A (p.Leu855Gln)
n.60T>A
c.450T>A
n.250T>A
c.5699T>A (p.Leu1900Gln)
c.5690T>A (p.Leu1897Gln)
c.5681T>A (p.Leu1894Gln)
c.5567T>A (p.Leu1856Gln)
c.3551T>A (p.Leu1184Gln)
c.1241T>A (p.Leu414Gln)
n.5940T>A
18g.23898796T>CCA402046425LAMA3c.845T>C (p.Leu282Pro)
c.5672T>C (p.Leu1891Pro)
c.2564T>C (p.Leu855Pro)
n.60T>C
c.450T>C
n.250T>C
c.5699T>C (p.Leu1900Pro)
c.5690T>C (p.Leu1897Pro)
c.5681T>C (p.Leu1894Pro)
c.5567T>C (p.Leu1856Pro)
c.3551T>C (p.Leu1184Pro)
c.1241T>C (p.Leu414Pro)
n.5940T>C
18g.23898796T>GCA402046426LAMA3c.845T>G (p.Leu282Arg)
c.5672T>G (p.Leu1891Arg)
c.2564T>G (p.Leu855Arg)
n.60T>G
c.450T>G
n.250T>G
c.5699T>G (p.Leu1900Arg)
c.5690T>G (p.Leu1897Arg)
c.5681T>G (p.Leu1894Arg)
c.5567T>G (p.Leu1856Arg)
c.3551T>G (p.Leu1184Arg)
c.1241T>G (p.Leu414Arg)
n.5940T>G
18g.23898797G>ACA503331878LAMA3c.846G>A (p.Leu282=)
c.5673G>A (p.Leu1891=)
c.2565G>A (p.Leu855=)
n.61G>A
c.451G>A
n.251G>A
c.5700G>A (p.Leu1900=)
c.5691G>A (p.Leu1897=)
c.5682G>A (p.Leu1894=)
c.5568G>A (p.Leu1856=)
c.3552G>A (p.Leu1184=)
c.1242G>A (p.Leu414=)
n.5941G>A
 ClinVar
18g.23898797G>CCA503331879LAMA3c.846G>C (p.Leu282=)
c.5673G>C (p.Leu1891=)
c.2565G>C (p.Leu855=)
n.61G>C
c.451G>C
n.251G>C
c.5700G>C (p.Leu1900=)
c.5691G>C (p.Leu1897=)
c.5682G>C (p.Leu1894=)
c.5568G>C (p.Leu1856=)
c.3552G>C (p.Leu1184=)
c.1242G>C (p.Leu414=)
n.5941G>C
18g.23898797G>TCA503331880LAMA3c.846G>T (p.Leu282=)
c.5673G>T (p.Leu1891=)
c.2565G>T (p.Leu855=)
n.61G>T
c.451G>T
n.251G>T
c.5700G>T (p.Leu1900=)
c.5691G>T (p.Leu1897=)
c.5682G>T (p.Leu1894=)
c.5568G>T (p.Leu1856=)
c.3552G>T (p.Leu1184=)
c.1242G>T (p.Leu414=)
n.5941G>T
18g.23898798G>ACA402046427LAMA3c.847G>A (p.Glu283Lys)
c.5674G>A (p.Glu1892Lys)
c.2566G>A (p.Glu856Lys)
n.62G>A
c.452G>A
n.252G>A
c.5701G>A (p.Glu1901Lys)
c.5692G>A (p.Glu1898Lys)
c.5683G>A (p.Glu1895Lys)
c.5569G>A (p.Glu1857Lys)
c.3553G>A (p.Glu1185Lys)
c.1243G>A (p.Glu415Lys)
n.5942G>A
18g.23898798G>CCA297095619LAMA3c.847G>C (p.Glu283Gln)
c.5674G>C (p.Glu1892Gln)
c.2566G>C (p.Glu856Gln)
n.62G>C
c.452G>C
n.252G>C
c.5701G>C (p.Glu1901Gln)
c.5692G>C (p.Glu1898Gln)
c.5683G>C (p.Glu1895Gln)
c.5569G>C (p.Glu1857Gln)
c.3553G>C (p.Glu1185Gln)
c.1243G>C (p.Glu415Gln)
n.5942G>C
 dbSNP
18g.23898798G=CA2290322183LAMA3c.847G= (p.Glu283=)
c.5674G= (p.Glu1892=)
c.2566G= (p.Glu856=)
n.62G=
c.452G=
n.252G=
c.5701G= (p.Glu1901=)
c.5692G= (p.Glu1898=)
c.5683G= (p.Glu1895=)
c.5569G= (p.Glu1857=)
c.3553G= (p.Glu1185=)
c.1243G= (p.Glu415=)
n.5942G=
18g.23898798G>TCA402046428LAMA3c.847G>T (p.Glu283Ter)
c.5674G>T (p.Glu1892Ter)
c.2566G>T (p.Glu856Ter)
n.62G>T
c.452G>T
n.252G>T
c.5701G>T (p.Glu1901Ter)
c.5692G>T (p.Glu1898Ter)
c.5683G>T (p.Glu1895Ter)
c.5569G>T (p.Glu1857Ter)
c.3553G>T (p.Glu1185Ter)
c.1243G>T (p.Glu415Ter)
n.5942G>T
18g.23898799A>CCA402046429LAMA3c.848A>C (p.Glu283Ala)
c.5675A>C (p.Glu1892Ala)
c.2567A>C (p.Glu856Ala)
n.63A>C
c.453A>C
n.253A>C
c.5702A>C (p.Glu1901Ala)
c.5693A>C (p.Glu1898Ala)
c.5684A>C (p.Glu1895Ala)
c.5570A>C (p.Glu1857Ala)
c.3554A>C (p.Glu1185Ala)
c.1244A>C (p.Glu415Ala)
n.5943A>C
18g.23898799A>GCA402046430LAMA3c.848A>G (p.Glu283Gly)
c.5675A>G (p.Glu1892Gly)
c.2567A>G (p.Glu856Gly)
n.63A>G
c.453A>G
n.253A>G
c.5702A>G (p.Glu1901Gly)
c.5693A>G (p.Glu1898Gly)
c.5684A>G (p.Glu1895Gly)
c.5570A>G (p.Glu1857Gly)
c.3554A>G (p.Glu1185Gly)
c.1244A>G (p.Glu415Gly)
n.5943A>G
18g.23898799A>TCA402046431LAMA3c.848A>T (p.Glu283Val)
c.5675A>T (p.Glu1892Val)
c.2567A>T (p.Glu856Val)
n.63A>T
c.453A>T
n.253A>T
c.5702A>T (p.Glu1901Val)
c.5693A>T (p.Glu1898Val)
c.5684A>T (p.Glu1895Val)
c.5570A>T (p.Glu1857Val)
c.3554A>T (p.Glu1185Val)
c.1244A>T (p.Glu415Val)
n.5943A>T
18g.23898800A>CCA402046432LAMA3c.849A>C (p.Glu283Asp)
c.5676A>C (p.Glu1892Asp)
c.2568A>C (p.Glu856Asp)
n.64A>C
c.454A>C
n.254A>C
c.5703A>C (p.Glu1901Asp)
c.5694A>C (p.Glu1898Asp)
c.5685A>C (p.Glu1895Asp)
c.5571A>C (p.Glu1857Asp)
c.3555A>C (p.Glu1185Asp)
c.1245A>C (p.Glu415Asp)
n.5944A>C
18g.23898800A>GCA503331881LAMA3c.849A>G (p.Glu283=)
c.5676A>G (p.Glu1892=)
c.2568A>G (p.Glu856=)
n.64A>G
c.454A>G
n.254A>G
c.5703A>G (p.Glu1901=)
c.5694A>G (p.Glu1898=)
c.5685A>G (p.Glu1895=)
c.5571A>G (p.Glu1857=)
c.3555A>G (p.Glu1185=)
c.1245A>G (p.Glu415=)
n.5944A>G
18g.23898800A>TCA402046433LAMA3c.849A>T (p.Glu283Asp)
c.5676A>T (p.Glu1892Asp)
c.2568A>T (p.Glu856Asp)
n.64A>T
c.454A>T
n.254A>T
c.5703A>T (p.Glu1901Asp)
c.5694A>T (p.Glu1898Asp)
c.5685A>T (p.Glu1895Asp)
c.5571A>T (p.Glu1857Asp)
c.3555A>T (p.Glu1185Asp)
c.1245A>T (p.Glu415Asp)
n.5944A>T
18g.23898801A>CCA503331882LAMA3c.850A>C (p.Arg284=)
c.5677A>C (p.Arg1893=)
c.2569A>C (p.Arg857=)
n.65A>C
c.455A>C
n.255A>C
c.5704A>C (p.Arg1902=)
c.5695A>C (p.Arg1899=)
c.5686A>C (p.Arg1896=)
c.5572A>C (p.Arg1858=)
c.3556A>C (p.Arg1186=)
c.1246A>C (p.Arg416=)
n.5945A>C
18g.23898801A>GCA402046434LAMA3c.850A>G (p.Arg284Gly)
c.5677A>G (p.Arg1893Gly)
c.2569A>G (p.Arg857Gly)
n.65A>G
c.455A>G
n.255A>G
c.5704A>G (p.Arg1902Gly)
c.5695A>G (p.Arg1899Gly)
c.5686A>G (p.Arg1896Gly)
c.5572A>G (p.Arg1858Gly)
c.3556A>G (p.Arg1186Gly)
c.1246A>G (p.Arg416Gly)
n.5945A>G
 gnomAD v4
18g.23898801A>TCA402046435LAMA3c.850A>T (p.Arg284Ter)
c.5677A>T (p.Arg1893Ter)
c.2569A>T (p.Arg857Ter)
n.65A>T
c.455A>T
n.255A>T
c.5704A>T (p.Arg1902Ter)
c.5695A>T (p.Arg1899Ter)
c.5686A>T (p.Arg1896Ter)
c.5572A>T (p.Arg1858Ter)
c.3556A>T (p.Arg1186Ter)
c.1246A>T (p.Arg416Ter)
n.5945A>T
18g.23898802G>ACA402046438LAMA3c.851G>A (p.Arg284Lys)
c.5678G>A (p.Arg1893Lys)
c.2570G>A (p.Arg857Lys)
n.66G>A
c.456G>A
n.256G>A
c.5705G>A (p.Arg1902Lys)
c.5696G>A (p.Arg1899Lys)
c.5687G>A (p.Arg1896Lys)
c.5573G>A (p.Arg1858Lys)
c.3557G>A (p.Arg1186Lys)
c.1247G>A (p.Arg416Lys)
n.5946G>A
18g.23898802G>CCA402046436LAMA3c.851G>C (p.Arg284Thr)
c.5678G>C (p.Arg1893Thr)
c.2570G>C (p.Arg857Thr)
n.66G>C
c.456G>C
n.256G>C
c.5705G>C (p.Arg1902Thr)
c.5696G>C (p.Arg1899Thr)
c.5687G>C (p.Arg1896Thr)
c.5573G>C (p.Arg1858Thr)
c.3557G>C (p.Arg1186Thr)
c.1247G>C (p.Arg416Thr)
n.5946G>C
18g.23898802G>TCA402046437LAMA3c.851G>T (p.Arg284Ile)
c.5678G>T (p.Arg1893Ile)
c.2570G>T (p.Arg857Ile)
n.66G>T
c.456G>T
n.256G>T
c.5705G>T (p.Arg1902Ile)
c.5696G>T (p.Arg1899Ile)
c.5687G>T (p.Arg1896Ile)
c.5573G>T (p.Arg1858Ile)
c.3557G>T (p.Arg1186Ile)
c.1247G>T (p.Arg416Ile)
n.5946G>T
18g.23898803A>CCA402046439LAMA3c.852A>C (p.Arg284Ser)
c.5679A>C (p.Arg1893Ser)
c.2571A>C (p.Arg857Ser)
n.67A>C
c.457A>C
n.257A>C
c.5706A>C (p.Arg1902Ser)
c.5697A>C (p.Arg1899Ser)
c.5688A>C (p.Arg1896Ser)
c.5574A>C (p.Arg1858Ser)
c.3558A>C (p.Arg1186Ser)
c.1248A>C (p.Arg416Ser)
n.5947A>C
18g.23898803A>GCA503331884LAMA3c.852A>G (p.Arg284=)
c.5679A>G (p.Arg1893=)
c.2571A>G (p.Arg857=)
n.67A>G
c.457A>G
n.257A>G
c.5706A>G (p.Arg1902=)
c.5697A>G (p.Arg1899=)
c.5688A>G (p.Arg1896=)
c.5574A>G (p.Arg1858=)
c.3558A>G (p.Arg1186=)
c.1248A>G (p.Arg416=)
n.5947A>G
18g.23898803A>TCA402046440LAMA3c.852A>T (p.Arg284Ser)
c.5679A>T (p.Arg1893Ser)
c.2571A>T (p.Arg857Ser)
n.67A>T
c.457A>T
n.257A>T
c.5706A>T (p.Arg1902Ser)
c.5697A>T (p.Arg1899Ser)
c.5688A>T (p.Arg1896Ser)
c.5574A>T (p.Arg1858Ser)
c.3558A>T (p.Arg1186Ser)
c.1248A>T (p.Arg416Ser)
n.5947A>T
18g.23898804G>ACA402046441LAMA3c.853G>A (p.Glu285Lys)
c.5680G>A (p.Glu1894Lys)
c.2572G>A (p.Glu858Lys)
n.68G>A
c.458G>A
n.258G>A
c.5707G>A (p.Glu1903Lys)
c.5698G>A (p.Glu1900Lys)
c.5689G>A (p.Glu1897Lys)
c.5575G>A (p.Glu1859Lys)
c.3559G>A (p.Glu1187Lys)
c.1249G>A (p.Glu417Lys)
n.5948G>A
 dbSNP gnomAD v2 gnomAD v4
18g.23898804G>CCA402046442LAMA3c.853G>C (p.Glu285Gln)
c.5680G>C (p.Glu1894Gln)
c.2572G>C (p.Glu858Gln)
n.68G>C
c.458G>C
n.258G>C
c.5707G>C (p.Glu1903Gln)
c.5698G>C (p.Glu1900Gln)
c.5689G>C (p.Glu1897Gln)
c.5575G>C (p.Glu1859Gln)
c.3559G>C (p.Glu1187Gln)
c.1249G>C (p.Glu417Gln)
n.5948G>C
18g.23898804G=CA2290322184LAMA3c.853G= (p.Glu285=)
c.5680G= (p.Glu1894=)
c.2572G= (p.Glu858=)
n.68G=
c.458G=
n.258G=
c.5707G= (p.Glu1903=)
c.5698G= (p.Glu1900=)
c.5689G= (p.Glu1897=)
c.5575G= (p.Glu1859=)
c.3559G= (p.Glu1187=)
c.1249G= (p.Glu417=)
n.5948G=
18g.23898804G>TCA402046443LAMA3c.853G>T (p.Glu285Ter)
c.5680G>T (p.Glu1894Ter)
c.2572G>T (p.Glu858Ter)
n.68G>T
c.458G>T
n.258G>T
c.5707G>T (p.Glu1903Ter)
c.5698G>T (p.Glu1900Ter)
c.5689G>T (p.Glu1897Ter)
c.5575G>T (p.Glu1859Ter)
c.3559G>T (p.Glu1187Ter)
c.1249G>T (p.Glu417Ter)
n.5948G>T
18g.23898805A>CCA402046444LAMA3c.854A>C (p.Glu285Ala)
c.5681A>C (p.Glu1894Ala)
c.2573A>C (p.Glu858Ala)
n.69A>C
c.459A>C
n.259A>C
c.5708A>C (p.Glu1903Ala)
c.5699A>C (p.Glu1900Ala)
c.5690A>C (p.Glu1897Ala)
c.5576A>C (p.Glu1859Ala)
c.3560A>C (p.Glu1187Ala)
c.1250A>C (p.Glu417Ala)
n.5949A>C
18g.23898805A>GCA402046445LAMA3c.854A>G (p.Glu285Gly)
c.5681A>G (p.Glu1894Gly)
c.2573A>G (p.Glu858Gly)
n.69A>G
c.459A>G
n.259A>G
c.5708A>G (p.Glu1903Gly)
c.5699A>G (p.Glu1900Gly)
c.5690A>G (p.Glu1897Gly)
c.5576A>G (p.Glu1859Gly)
c.3560A>G (p.Glu1187Gly)
c.1250A>G (p.Glu417Gly)
n.5949A>G
18g.23898805A>TCA402046446LAMA3c.854A>T (p.Glu285Val)
c.5681A>T (p.Glu1894Val)
c.2573A>T (p.Glu858Val)
n.69A>T
c.459A>T
n.259A>T
c.5708A>T (p.Glu1903Val)
c.5699A>T (p.Glu1900Val)
c.5690A>T (p.Glu1897Val)
c.5576A>T (p.Glu1859Val)
c.3560A>T (p.Glu1187Val)
c.1250A>T (p.Glu417Val)
n.5949A>T
18g.23898806A>CCA402046447LAMA3c.855A>C (p.Glu285Asp)
c.5682A>C (p.Glu1894Asp)
c.2574A>C (p.Glu858Asp)
n.70A>C
c.460A>C
n.260A>C
c.5709A>C (p.Glu1903Asp)
c.5700A>C (p.Glu1900Asp)
c.5691A>C (p.Glu1897Asp)
c.5577A>C (p.Glu1859Asp)
c.3561A>C (p.Glu1187Asp)
c.1251A>C (p.Glu417Asp)
n.5950A>C
18g.23898806A>GCA503331885LAMA3c.855A>G (p.Glu285=)
c.5682A>G (p.Glu1894=)
c.2574A>G (p.Glu858=)
n.70A>G
c.460A>G
n.260A>G
c.5709A>G (p.Glu1903=)
c.5700A>G (p.Glu1900=)
c.5691A>G (p.Glu1897=)
c.5577A>G (p.Glu1859=)
c.3561A>G (p.Glu1187=)
c.1251A>G (p.Glu417=)
n.5950A>G
18g.23898806A>TCA402046448LAMA3c.855A>T (p.Glu285Asp)
c.5682A>T (p.Glu1894Asp)
c.2574A>T (p.Glu858Asp)
n.70A>T
c.460A>T
n.260A>T
c.5709A>T (p.Glu1903Asp)
c.5700A>T (p.Glu1900Asp)
c.5691A>T (p.Glu1897Asp)
c.5577A>T (p.Glu1859Asp)
c.3561A>T (p.Glu1187Asp)
c.1251A>T (p.Glu417Asp)
n.5950A>T
18g.23898807C>ACA402046449LAMA3c.856C>A (p.Leu286Met)
c.5683C>A (p.Leu1895Met)
c.2575C>A (p.Leu859Met)
n.71C>A
c.461C>A
n.261C>A
c.5710C>A (p.Leu1904Met)
c.5701C>A (p.Leu1901Met)
c.5692C>A (p.Leu1898Met)
c.5578C>A (p.Leu1860Met)
c.3562C>A (p.Leu1188Met)
c.1252C>A (p.Leu418Met)
n.5951C>A
18g.23898807C>GCA402046450LAMA3c.856C>G (p.Leu286Val)
c.5683C>G (p.Leu1895Val)
c.2575C>G (p.Leu859Val)
n.71C>G
c.461C>G
n.261C>G
c.5710C>G (p.Leu1904Val)
c.5701C>G (p.Leu1901Val)
c.5692C>G (p.Leu1898Val)
c.5578C>G (p.Leu1860Val)
c.3562C>G (p.Leu1188Val)
c.1252C>G (p.Leu418Val)
n.5951C>G
18g.23898807C>TCA503331886LAMA3c.856C>T (p.Leu286=)
c.5683C>T (p.Leu1895=)
c.2575C>T (p.Leu859=)
n.71C>T
c.461C>T
n.261C>T
c.5710C>T (p.Leu1904=)
c.5701C>T (p.Leu1901=)
c.5692C>T (p.Leu1898=)
c.5578C>T (p.Leu1860=)
c.3562C>T (p.Leu1188=)
c.1252C>T (p.Leu418=)
n.5951C>T
 ClinVar
18g.23898808T>ACA402046452LAMA3c.857T>A (p.Leu286Gln)
c.5684T>A (p.Leu1895Gln)
c.2576T>A (p.Leu859Gln)
n.72T>A
c.462T>A
n.262T>A
c.5711T>A (p.Leu1904Gln)
c.5702T>A (p.Leu1901Gln)
c.5693T>A (p.Leu1898Gln)
c.5579T>A (p.Leu1860Gln)
c.3563T>A (p.Leu1188Gln)
c.1253T>A (p.Leu418Gln)
n.5952T>A
18g.23898808T>CCA8916137LAMA3c.857T>C (p.Leu286Pro)
c.5684T>C (p.Leu1895Pro)
c.2576T>C (p.Leu859Pro)
n.72T>C
c.462T>C
n.262T>C
c.5711T>C (p.Leu1904Pro)
c.5702T>C (p.Leu1901Pro)
c.5693T>C (p.Leu1898Pro)
c.5579T>C (p.Leu1860Pro)
c.3563T>C (p.Leu1188Pro)
c.1253T>C (p.Leu418Pro)
n.5952T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23898808T>GCA402046451LAMA3c.857T>G (p.Leu286Arg)
c.5684T>G (p.Leu1895Arg)
c.2576T>G (p.Leu859Arg)
n.72T>G
c.462T>G
n.262T>G
c.5711T>G (p.Leu1904Arg)
c.5702T>G (p.Leu1901Arg)
c.5693T>G (p.Leu1898Arg)
c.5579T>G (p.Leu1860Arg)
c.3563T>G (p.Leu1188Arg)
c.1253T>G (p.Leu418Arg)
n.5952T>G
18g.23898808T=CA2290322185LAMA3c.857T= (p.Leu286=)
c.5684T= (p.Leu1895=)
c.2576T= (p.Leu859=)
n.72T=
c.462T=
n.262T=
c.5711T= (p.Leu1904=)
c.5702T= (p.Leu1901=)
c.5693T= (p.Leu1898=)
c.5579T= (p.Leu1860=)
c.3563T= (p.Leu1188=)
c.1253T= (p.Leu418=)
n.5952T=
18g.23898809G>ACA503331887LAMA3c.858G>A (p.Leu286=)
c.5685G>A (p.Leu1895=)
c.2577G>A (p.Leu859=)
n.73G>A
c.463G>A
n.263G>A
c.5712G>A (p.Leu1904=)
c.5703G>A (p.Leu1901=)
c.5694G>A (p.Leu1898=)
c.5580G>A (p.Leu1860=)
c.3564G>A (p.Leu1188=)
c.1254G>A (p.Leu418=)
n.5953G>A
18g.23898809G>CCA503331888LAMA3c.858G>C (p.Leu286=)
c.5685G>C (p.Leu1895=)
c.2577G>C (p.Leu859=)
n.73G>C
c.463G>C
n.263G>C
c.5712G>C (p.Leu1904=)
c.5703G>C (p.Leu1901=)
c.5694G>C (p.Leu1898=)
c.5580G>C (p.Leu1860=)
c.3564G>C (p.Leu1188=)
c.1254G>C (p.Leu418=)
n.5953G>C
 COSMIC COSMIC
18g.23898809G>TCA503331889LAMA3c.858G>T (p.Leu286=)
c.5685G>T (p.Leu1895=)
c.2577G>T (p.Leu859=)
n.73G>T
c.463G>T
n.263G>T
c.5712G>T (p.Leu1904=)
c.5703G>T (p.Leu1901=)
c.5694G>T (p.Leu1898=)
c.5580G>T (p.Leu1860=)
c.3564G>T (p.Leu1188=)
c.1254G>T (p.Leu418=)
n.5953G>T
 ClinVar
18g.23898810A>CCA402046453LAMA3c.859A>C (p.Thr287Pro)
c.5686A>C (p.Thr1896Pro)
c.2578A>C (p.Thr860Pro)
n.74A>C
c.464A>C
n.264A>C
c.5713A>C (p.Thr1905Pro)
c.5704A>C (p.Thr1902Pro)
c.5695A>C (p.Thr1899Pro)
c.5581A>C (p.Thr1861Pro)
c.3565A>C (p.Thr1189Pro)
c.1255A>C (p.Thr419Pro)
n.5954A>C
18g.23898810A>GCA402046455LAMA3c.859A>G (p.Thr287Ala)
c.5686A>G (p.Thr1896Ala)
c.2578A>G (p.Thr860Ala)
n.74A>G
c.464A>G
n.264A>G
c.5713A>G (p.Thr1905Ala)
c.5704A>G (p.Thr1902Ala)
c.5695A>G (p.Thr1899Ala)
c.5581A>G (p.Thr1861Ala)
c.3565A>G (p.Thr1189Ala)
c.1255A>G (p.Thr419Ala)
n.5954A>G
18g.23898810A>TCA402046454LAMA3c.859A>T (p.Thr287Ser)
c.5686A>T (p.Thr1896Ser)
c.2578A>T (p.Thr860Ser)
n.74A>T
c.464A>T
n.264A>T
c.5713A>T (p.Thr1905Ser)
c.5704A>T (p.Thr1902Ser)
c.5695A>T (p.Thr1899Ser)
c.5581A>T (p.Thr1861Ser)
c.3565A>T (p.Thr1189Ser)
c.1255A>T (p.Thr419Ser)
n.5954A>T
18g.23898811C>ACA402046456LAMA3c.860C>A (p.Thr287Asn)
c.5687C>A (p.Thr1896Asn)
c.2579C>A (p.Thr860Asn)
n.75C>A
c.465C>A
n.265C>A
c.5714C>A (p.Thr1905Asn)
c.5705C>A (p.Thr1902Asn)
c.5696C>A (p.Thr1899Asn)
c.5582C>A (p.Thr1861Asn)
c.3566C>A (p.Thr1189Asn)
c.1256C>A (p.Thr419Asn)
n.5955C>A
18g.23898811C=CA2290322186LAMA3c.860C= (p.Thr287=)
c.5687C= (p.Thr1896=)
c.2579C= (p.Thr860=)
n.75C=
c.465C=
n.265C=
c.5714C= (p.Thr1905=)
c.5705C= (p.Thr1902=)
c.5696C= (p.Thr1899=)
c.5582C= (p.Thr1861=)
c.3566C= (p.Thr1189=)
c.1256C= (p.Thr419=)
n.5955C=
18g.23898811C>GCA402046457LAMA3c.860C>G (p.Thr287Ser)
c.5687C>G (p.Thr1896Ser)
c.2579C>G (p.Thr860Ser)
n.75C>G
c.465C>G
n.265C>G
c.5714C>G (p.Thr1905Ser)
c.5705C>G (p.Thr1902Ser)
c.5696C>G (p.Thr1899Ser)
c.5582C>G (p.Thr1861Ser)
c.3566C>G (p.Thr1189Ser)
c.1256C>G (p.Thr419Ser)
n.5955C>G
18g.23898811C>TCA402046458LAMA3c.860C>T (p.Thr287Ile)
c.5687C>T (p.Thr1896Ile)
c.2579C>T (p.Thr860Ile)
n.75C>T
c.465C>T
n.265C>T
c.5714C>T (p.Thr1905Ile)
c.5705C>T (p.Thr1902Ile)
c.5696C>T (p.Thr1899Ile)
c.5582C>T (p.Thr1861Ile)
c.3566C>T (p.Thr1189Ile)
c.1256C>T (p.Thr419Ile)
n.5955C>T
18g.23898812T>ACA503331890LAMA3c.861T>A (p.Thr287=)
c.5688T>A (p.Thr1896=)
c.2580T>A (p.Thr860=)
n.76T>A
c.466T>A
n.266T>A
c.5715T>A (p.Thr1905=)
c.5706T>A (p.Thr1902=)
c.5697T>A (p.Thr1899=)
c.5583T>A (p.Thr1861=)
c.3567T>A (p.Thr1189=)
c.1257T>A (p.Thr419=)
n.5956T>A
18g.23898812T>CCA503331891LAMA3c.861T>C (p.Thr287=)
c.5688T>C (p.Thr1896=)
c.2580T>C (p.Thr860=)
n.76T>C
c.466T>C
n.266T>C
c.5715T>C (p.Thr1905=)
c.5706T>C (p.Thr1902=)
c.5697T>C (p.Thr1899=)
c.5583T>C (p.Thr1861=)
c.3567T>C (p.Thr1189=)
c.1257T>C (p.Thr419=)
n.5956T>C
18g.23898812T>GCA503331893LAMA3c.861T>G (p.Thr287=)
c.5688T>G (p.Thr1896=)
c.2580T>G (p.Thr860=)
n.76T>G
c.466T>G
n.266T>G
c.5715T>G (p.Thr1905=)
c.5706T>G (p.Thr1902=)
c.5697T>G (p.Thr1899=)
c.5583T>G (p.Thr1861=)
c.3567T>G (p.Thr1189=)
c.1257T>G (p.Thr419=)
n.5956T>G
18g.23898812dupCA16041932LAMA3c.861dup (p.Asp288Ter)
c.5688dup (p.Asp1897Ter)
c.2580dup (p.Asp861Ter)
n.76dup
c.466dup
n.266dup
c.5715dup (p.Asp1906Ter)
c.5706dup (p.Asp1903Ter)
c.5697dup (p.Asp1900Ter)
c.5583dup (p.Asp1862Ter)
c.3567dup (p.Asp1190Ter)
c.1257dup (p.Asp420Ter)
n.5956dup
 ClinVar dbSNP
18g.23898813G>ACA402046459LAMA3c.862G>A (p.Asp288Asn)
c.5689G>A (p.Asp1897Asn)
c.2581G>A (p.Asp861Asn)
n.77G>A
c.467G>A
n.267G>A
c.5716G>A (p.Asp1906Asn)
c.5707G>A (p.Asp1903Asn)
c.5698G>A (p.Asp1900Asn)
c.5584G>A (p.Asp1862Asn)
c.3568G>A (p.Asp1190Asn)
c.1258G>A (p.Asp420Asn)
n.5957G>A
18g.23898813G>CCA402046460LAMA3c.862G>C (p.Asp288His)
c.5689G>C (p.Asp1897His)
c.2581G>C (p.Asp861His)
n.77G>C
c.467G>C
n.267G>C
c.5716G>C (p.Asp1906His)
c.5707G>C (p.Asp1903His)
c.5698G>C (p.Asp1900His)
c.5584G>C (p.Asp1862His)
c.3568G>C (p.Asp1190His)
c.1258G>C (p.Asp420His)
n.5957G>C
18g.23898813G>TCA402046461LAMA3c.862G>T (p.Asp288Tyr)
c.5689G>T (p.Asp1897Tyr)
c.2581G>T (p.Asp861Tyr)
n.77G>T
c.467G>T
n.267G>T
c.5716G>T (p.Asp1906Tyr)
c.5707G>T (p.Asp1903Tyr)
c.5698G>T (p.Asp1900Tyr)
c.5584G>T (p.Asp1862Tyr)
c.3568G>T (p.Asp1190Tyr)
c.1258G>T (p.Asp420Tyr)
n.5957G>T
 gnomAD v4
18g.23898814A>CCA402046462LAMA3c.863A>C (p.Asp288Ala)
c.5690A>C (p.Asp1897Ala)
c.2582A>C (p.Asp861Ala)
n.78A>C
c.468A>C
n.268A>C
c.5717A>C (p.Asp1906Ala)
c.5708A>C (p.Asp1903Ala)
c.5699A>C (p.Asp1900Ala)
c.5585A>C (p.Asp1862Ala)
c.3569A>C (p.Asp1190Ala)
c.1259A>C (p.Asp420Ala)
n.5958A>C
18g.23898814A>GCA402046463LAMA3c.863A>G (p.Asp288Gly)
c.5690A>G (p.Asp1897Gly)
c.2582A>G (p.Asp861Gly)
n.78A>G
c.468A>G
n.268A>G
c.5717A>G (p.Asp1906Gly)
c.5708A>G (p.Asp1903Gly)
c.5699A>G (p.Asp1900Gly)
c.5585A>G (p.Asp1862Gly)
c.3569A>G (p.Asp1190Gly)
c.1259A>G (p.Asp420Gly)
n.5958A>G
18g.23898814A>TCA402046464LAMA3c.863A>T (p.Asp288Val)
c.5690A>T (p.Asp1897Val)
c.2582A>T (p.Asp861Val)
n.78A>T
c.468A>T
n.268A>T
c.5717A>T (p.Asp1906Val)
c.5708A>T (p.Asp1903Val)
c.5699A>T (p.Asp1900Val)
c.5585A>T (p.Asp1862Val)
c.3569A>T (p.Asp1190Val)
c.1259A>T (p.Asp420Val)
n.5958A>T
18g.23898815T>ACA402046465LAMA3c.864T>A (p.Asp288Glu)
c.5691T>A (p.Asp1897Glu)
c.2583T>A (p.Asp861Glu)
n.79T>A
c.469T>A
n.269T>A
c.5718T>A (p.Asp1906Glu)
c.5709T>A (p.Asp1903Glu)
c.5700T>A (p.Asp1900Glu)
c.5586T>A (p.Asp1862Glu)
c.3570T>A (p.Asp1190Glu)
c.1260T>A (p.Asp420Glu)
n.5959T>A
18g.23898815T>CCA503331894LAMA3c.864T>C (p.Asp288=)
c.5691T>C (p.Asp1897=)
c.2583T>C (p.Asp861=)
n.79T>C
c.469T>C
n.269T>C
c.5718T>C (p.Asp1906=)
c.5709T>C (p.Asp1903=)
c.5700T>C (p.Asp1900=)
c.5586T>C (p.Asp1862=)
c.3570T>C (p.Asp1190=)
c.1260T>C (p.Asp420=)
n.5959T>C
18g.23898815T>GCA402046466LAMA3c.864T>G (p.Asp288Glu)
c.5691T>G (p.Asp1897Glu)
c.2583T>G (p.Asp861Glu)
n.79T>G
c.469T>G
n.269T>G
c.5718T>G (p.Asp1906Glu)
c.5709T>G (p.Asp1903Glu)
c.5700T>G (p.Asp1900Glu)
c.5586T>G (p.Asp1862Glu)
c.3570T>G (p.Asp1190Glu)
c.1260T>G (p.Asp420Glu)
n.5959T>G
18g.23898816T>ACA402046468LAMA3c.865T>A (p.Leu289Met)
c.5692T>A (p.Leu1898Met)
c.2584T>A (p.Leu862Met)
n.80T>A
c.470T>A
n.270T>A
c.5719T>A (p.Leu1907Met)
c.5710T>A (p.Leu1904Met)
c.5701T>A (p.Leu1901Met)
c.5587T>A (p.Leu1863Met)
c.3571T>A (p.Leu1191Met)
c.1261T>A (p.Leu421Met)
n.5960T>A
18g.23898816T>CCA8916138LAMA3c.865T>C (p.Leu289=)
c.5692T>C (p.Leu1898=)
c.2584T>C (p.Leu862=)
n.80T>C
c.470T>C
n.270T>C
c.5719T>C (p.Leu1907=)
c.5710T>C (p.Leu1904=)
c.5701T>C (p.Leu1901=)
c.5587T>C (p.Leu1863=)
c.3571T>C (p.Leu1191=)
c.1261T>C (p.Leu421=)
n.5960T>C
 dbSNP ExAC
18g.23898816T>GCA402046467LAMA3c.865T>G (p.Leu289Val)
c.5692T>G (p.Leu1898Val)
c.2584T>G (p.Leu862Val)
n.80T>G
c.470T>G
n.270T>G
c.5719T>G (p.Leu1907Val)
c.5710T>G (p.Leu1904Val)
c.5701T>G (p.Leu1901Val)
c.5587T>G (p.Leu1863Val)
c.3571T>G (p.Leu1191Val)
c.1261T>G (p.Leu421Val)
n.5960T>G
18g.23898816T=CA2290322187LAMA3c.865T= (p.Leu289=)
c.5692T= (p.Leu1898=)
c.2584T= (p.Leu862=)
n.80T=
c.470T=
n.270T=
c.5719T= (p.Leu1907=)
c.5710T= (p.Leu1904=)
c.5701T= (p.Leu1901=)
c.5587T= (p.Leu1863=)
c.3571T= (p.Leu1191=)
c.1261T= (p.Leu421=)
n.5960T=
18g.23898817T>ACA402046469LAMA3c.866T>A (p.Leu289Ter)
c.5693T>A (p.Leu1898Ter)
c.2585T>A (p.Leu862Ter)
n.81T>A
c.471T>A
n.271T>A
c.5720T>A (p.Leu1907Ter)
c.5711T>A (p.Leu1904Ter)
c.5702T>A (p.Leu1901Ter)
c.5588T>A (p.Leu1863Ter)
c.3572T>A (p.Leu1191Ter)
c.1262T>A (p.Leu421Ter)
n.5961T>A
18g.23898817T>CCA402046470LAMA3c.866T>C (p.Leu289Ser)
c.5693T>C (p.Leu1898Ser)
c.2585T>C (p.Leu862Ser)
n.81T>C
c.471T>C
n.271T>C
c.5720T>C (p.Leu1907Ser)
c.5711T>C (p.Leu1904Ser)
c.5702T>C (p.Leu1901Ser)
c.5588T>C (p.Leu1863Ser)
c.3572T>C (p.Leu1191Ser)
c.1262T>C (p.Leu421Ser)
n.5961T>C
18g.23898817T>GCA402046471LAMA3c.866T>G (p.Leu289Trp)
c.5693T>G (p.Leu1898Trp)
c.2585T>G (p.Leu862Trp)
n.81T>G
c.471T>G
n.271T>G
c.5720T>G (p.Leu1907Trp)
c.5711T>G (p.Leu1904Trp)
c.5702T>G (p.Leu1901Trp)
c.5588T>G (p.Leu1863Trp)
c.3572T>G (p.Leu1191Trp)
c.1262T>G (p.Leu421Trp)
n.5961T>G
18g.23898818G>ACA8916139LAMA3c.867G>A (p.Leu289=)
c.5694G>A (p.Leu1898=)
c.2586G>A (p.Leu862=)
n.82G>A
c.472G>A
n.272G>A
c.5721G>A (p.Leu1907=)
c.5712G>A (p.Leu1904=)
c.5703G>A (p.Leu1901=)
c.5589G>A (p.Leu1863=)
c.3573G>A (p.Leu1191=)
c.1263G>A (p.Leu421=)
n.5962G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23898818G>CCA402046472LAMA3c.867G>C (p.Leu289Phe)
c.5694G>C (p.Leu1898Phe)
c.2586G>C (p.Leu862Phe)
n.82G>C
c.472G>C
n.272G>C
c.5721G>C (p.Leu1907Phe)
c.5712G>C (p.Leu1904Phe)
c.5703G>C (p.Leu1901Phe)
c.5589G>C (p.Leu1863Phe)
c.3573G>C (p.Leu1191Phe)
c.1263G>C (p.Leu421Phe)
n.5962G>C
18g.23898818G=CA2290322188LAMA3c.867G= (p.Leu289=)
c.5694G= (p.Leu1898=)
c.2586G= (p.Leu862=)
n.82G=
c.472G=
n.272G=
c.5721G= (p.Leu1907=)
c.5712G= (p.Leu1904=)
c.5703G= (p.Leu1901=)
c.5589G= (p.Leu1863=)
c.3573G= (p.Leu1191=)
c.1263G= (p.Leu421=)
n.5962G=
18g.23898818G>TCA402046473LAMA3c.867G>T (p.Leu289Phe)
c.5694G>T (p.Leu1898Phe)
c.2586G>T (p.Leu862Phe)
n.82G>T
c.472G>T
n.272G>T
c.5721G>T (p.Leu1907Phe)
c.5712G>T (p.Leu1904Phe)
c.5703G>T (p.Leu1901Phe)
c.5589G>T (p.Leu1863Phe)
c.3573G>T (p.Leu1191Phe)
c.1263G>T (p.Leu421Phe)
n.5962G>T
 gnomAD v4
18g.23898819A>CCA402046474LAMA3c.868A>C (p.Asn290His)
c.5695A>C (p.Asn1899His)
c.2587A>C (p.Asn863His)
n.83A>C
c.473A>C
n.273A>C
c.5722A>C (p.Asn1908His)
c.5713A>C (p.Asn1905His)
c.5704A>C (p.Asn1902His)
c.5590A>C (p.Asn1864His)
c.3574A>C (p.Asn1192His)
c.1264A>C (p.Asn422His)
n.5963A>C
18g.23898819A>GCA402046475LAMA3c.868A>G (p.Asn290Asp)
c.5695A>G (p.Asn1899Asp)
c.2587A>G (p.Asn863Asp)
n.83A>G
c.473A>G
n.273A>G
c.5722A>G (p.Asn1908Asp)
c.5713A>G (p.Asn1905Asp)
c.5704A>G (p.Asn1902Asp)
c.5590A>G (p.Asn1864Asp)
c.3574A>G (p.Asn1192Asp)
c.1264A>G (p.Asn422Asp)
n.5963A>G
 gnomAD v4
18g.23898819A>TCA402046476LAMA3c.868A>T (p.Asn290Tyr)
c.5695A>T (p.Asn1899Tyr)
c.2587A>T (p.Asn863Tyr)
n.83A>T
c.473A>T
n.273A>T
c.5722A>T (p.Asn1908Tyr)
c.5713A>T (p.Asn1905Tyr)
c.5704A>T (p.Asn1902Tyr)
c.5590A>T (p.Asn1864Tyr)
c.3574A>T (p.Asn1192Tyr)
c.1264A>T (p.Asn422Tyr)
n.5963A>T
18g.23898820A>CCA402046477LAMA3c.869A>C (p.Asn290Thr)
c.5696A>C (p.Asn1899Thr)
c.2588A>C (p.Asn863Thr)
n.84A>C
c.474A>C
n.274A>C
c.5723A>C (p.Asn1908Thr)
c.5714A>C (p.Asn1905Thr)
c.5705A>C (p.Asn1902Thr)
c.5591A>C (p.Asn1864Thr)
c.3575A>C (p.Asn1192Thr)
c.1265A>C (p.Asn422Thr)
n.5964A>C
18g.23898820A>GCA402046478LAMA3c.869A>G (p.Asn290Ser)
c.5696A>G (p.Asn1899Ser)
c.2588A>G (p.Asn863Ser)
n.84A>G
c.474A>G
n.274A>G
c.5723A>G (p.Asn1908Ser)
c.5714A>G (p.Asn1905Ser)
c.5705A>G (p.Asn1902Ser)
c.5591A>G (p.Asn1864Ser)
c.3575A>G (p.Asn1192Ser)
c.1265A>G (p.Asn422Ser)
n.5964A>G
18g.23898820A>TCA402046479LAMA3c.869A>T (p.Asn290Ile)
c.5696A>T (p.Asn1899Ile)
c.2588A>T (p.Asn863Ile)
n.84A>T
c.474A>T
n.274A>T
c.5723A>T (p.Asn1908Ile)
c.5714A>T (p.Asn1905Ile)
c.5705A>T (p.Asn1902Ile)
c.5591A>T (p.Asn1864Ile)
c.3575A>T (p.Asn1192Ile)
c.1265A>T (p.Asn422Ile)
n.5964A>T
18g.23898821T>ACA402046481LAMA3c.870T>A (p.Asn290Lys)
c.5697T>A (p.Asn1899Lys)
c.2589T>A (p.Asn863Lys)
n.85T>A
c.475T>A
n.275T>A
c.5724T>A (p.Asn1908Lys)
c.5715T>A (p.Asn1905Lys)
c.5706T>A (p.Asn1902Lys)
c.5592T>A (p.Asn1864Lys)
c.3576T>A (p.Asn1192Lys)
c.1266T>A (p.Asn422Lys)
n.5965T>A
18g.23898821T>CCA503331896LAMA3c.870T>C (p.Asn290=)
c.5697T>C (p.Asn1899=)
c.2589T>C (p.Asn863=)
n.85T>C
c.475T>C
n.275T>C
c.5724T>C (p.Asn1908=)
c.5715T>C (p.Asn1905=)
c.5706T>C (p.Asn1902=)
c.5592T>C (p.Asn1864=)
c.3576T>C (p.Asn1192=)
c.1266T>C (p.Asn422=)
n.5965T>C
18g.23898821T>GCA402046480LAMA3c.870T>G (p.Asn290Lys)
c.5697T>G (p.Asn1899Lys)
c.2589T>G (p.Asn863Lys)
n.85T>G
c.475T>G
n.275T>G
c.5724T>G (p.Asn1908Lys)
c.5715T>G (p.Asn1905Lys)
c.5706T>G (p.Asn1902Lys)
c.5592T>G (p.Asn1864Lys)
c.3576T>G (p.Asn1192Lys)
c.1266T>G (p.Asn422Lys)
n.5965T>G
18g.23898822C>ACA402046482LAMA3c.871C>A (p.Gln291Lys)
c.5698C>A (p.Gln1900Lys)
c.2590C>A (p.Gln864Lys)
n.86C>A
c.476C>A
n.276C>A
c.5725C>A (p.Gln1909Lys)
c.5716C>A (p.Gln1906Lys)
c.5707C>A (p.Gln1903Lys)
c.5593C>A (p.Gln1865Lys)
c.3577C>A (p.Gln1193Lys)
c.1267C>A (p.Gln423Lys)
n.5966C>A
 dbSNP gnomAD v3 gnomAD v4
18g.23898822C=CA2290322189LAMA3c.871C= (p.Gln291=)
c.5698C= (p.Gln1900=)
c.2590C= (p.Gln864=)
n.86C=
c.476C=
n.276C=
c.5725C= (p.Gln1909=)
c.5716C= (p.Gln1906=)
c.5707C= (p.Gln1903=)
c.5593C= (p.Gln1865=)
c.3577C= (p.Gln1193=)
c.1267C= (p.Gln423=)
n.5966C=
18g.23898822C>GCA402046483LAMA3c.871C>G (p.Gln291Glu)
c.5698C>G (p.Gln1900Glu)
c.2590C>G (p.Gln864Glu)
n.86C>G
c.476C>G
n.276C>G
c.5725C>G (p.Gln1909Glu)
c.5716C>G (p.Gln1906Glu)
c.5707C>G (p.Gln1903Glu)
c.5593C>G (p.Gln1865Glu)
c.3577C>G (p.Gln1193Glu)
c.1267C>G (p.Gln423Glu)
n.5966C>G
18g.23898822C>TCA402046484LAMA3c.871C>T (p.Gln291Ter)
c.5698C>T (p.Gln1900Ter)
c.2590C>T (p.Gln864Ter)
n.86C>T
c.476C>T
n.276C>T
c.5725C>T (p.Gln1909Ter)
c.5716C>T (p.Gln1906Ter)
c.5707C>T (p.Gln1903Ter)
c.5593C>T (p.Gln1865Ter)
c.3577C>T (p.Gln1193Ter)
c.1267C>T (p.Gln423Ter)
n.5966C>T
18g.23898823A>CCA402046485LAMA3c.872A>C (p.Gln291Pro)
c.5699A>C (p.Gln1900Pro)
c.2591A>C (p.Gln864Pro)
n.87A>C
c.477A>C
n.277A>C
c.5726A>C (p.Gln1909Pro)
c.5717A>C (p.Gln1906Pro)
c.5708A>C (p.Gln1903Pro)
c.5594A>C (p.Gln1865Pro)
c.3578A>C (p.Gln1193Pro)
c.1268A>C (p.Gln423Pro)
n.5967A>C
18g.23898823A>GCA402046486LAMA3c.872A>G (p.Gln291Arg)
c.5699A>G (p.Gln1900Arg)
c.2591A>G (p.Gln864Arg)
n.87A>G
c.477A>G
n.277A>G
c.5726A>G (p.Gln1909Arg)
c.5717A>G (p.Gln1906Arg)
c.5708A>G (p.Gln1903Arg)
c.5594A>G (p.Gln1865Arg)
c.3578A>G (p.Gln1193Arg)
c.1268A>G (p.Gln423Arg)
n.5967A>G
18g.23898823A>TCA402046487LAMA3c.872A>T (p.Gln291Leu)
c.5699A>T (p.Gln1900Leu)
c.2591A>T (p.Gln864Leu)
n.87A>T
c.477A>T
n.277A>T
c.5726A>T (p.Gln1909Leu)
c.5717A>T (p.Gln1906Leu)
c.5708A>T (p.Gln1903Leu)
c.5594A>T (p.Gln1865Leu)
c.3578A>T (p.Gln1193Leu)
c.1268A>T (p.Gln423Leu)
n.5967A>T
18g.23898824A=CA2290322190LAMA3c.873A= (p.Gln291=)
c.5700A= (p.Gln1900=)
c.2592A= (p.Gln864=)
n.88A=
c.478A=
n.278A=
c.5727A= (p.Gln1909=)
c.5718A= (p.Gln1906=)
c.5709A= (p.Gln1903=)
c.5595A= (p.Gln1865=)
c.3579A= (p.Gln1193=)
c.1269A= (p.Gln423=)
n.5968A=
18g.23898824A>CCA402046488LAMA3c.873A>C (p.Gln291His)
c.5700A>C (p.Gln1900His)
c.2592A>C (p.Gln864His)
n.88A>C
c.478A>C
n.278A>C
c.5727A>C (p.Gln1909His)
c.5718A>C (p.Gln1906His)
c.5709A>C (p.Gln1903His)
c.5595A>C (p.Gln1865His)
c.3579A>C (p.Gln1193His)
c.1269A>C (p.Gln423His)
n.5968A>C
18g.23898824A>GCA8916140LAMA3c.873A>G (p.Gln291=)
c.5700A>G (p.Gln1900=)
c.2592A>G (p.Gln864=)
n.88A>G
c.478A>G
n.278A>G
c.5727A>G (p.Gln1909=)
c.5718A>G (p.Gln1906=)
c.5709A>G (p.Gln1903=)
c.5595A>G (p.Gln1865=)
c.3579A>G (p.Gln1193=)
c.1269A>G (p.Gln423=)
n.5968A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23898824A>TCA402046489LAMA3c.873A>T (p.Gln291His)
c.5700A>T (p.Gln1900His)
c.2592A>T (p.Gln864His)
n.88A>T
c.478A>T
n.278A>T
c.5727A>T (p.Gln1909His)
c.5718A>T (p.Gln1906His)
c.5709A>T (p.Gln1903His)
c.5595A>T (p.Gln1865His)
c.3579A>T (p.Gln1193His)
c.1269A>T (p.Gln423His)
n.5968A>T
18g.23898825G>ACA402046490LAMA3c.874G>A (p.Glu292Lys)
c.5701G>A (p.Glu1901Lys)
c.2593G>A (p.Glu865Lys)
n.89G>A
c.479G>A
n.279G>A
c.5728G>A (p.Glu1910Lys)
c.5719G>A (p.Glu1907Lys)
c.5710G>A (p.Glu1904Lys)
c.5596G>A (p.Glu1866Lys)
c.3580G>A (p.Glu1194Lys)
c.1270G>A (p.Glu424Lys)
n.5969G>A
18g.23898825G>CCA402046491LAMA3c.874G>C (p.Glu292Gln)
c.5701G>C (p.Glu1901Gln)
c.2593G>C (p.Glu865Gln)
n.89G>C
c.479G>C
n.279G>C
c.5728G>C (p.Glu1910Gln)
c.5719G>C (p.Glu1907Gln)
c.5710G>C (p.Glu1904Gln)
c.5596G>C (p.Glu1866Gln)
c.3580G>C (p.Glu1194Gln)
c.1270G>C (p.Glu424Gln)
n.5969G>C
18g.23898825G>TCA402046492LAMA3c.874G>T (p.Glu292Ter)
c.5701G>T (p.Glu1901Ter)
c.2593G>T (p.Glu865Ter)
n.89G>T
c.479G>T
n.279G>T
c.5728G>T (p.Glu1910Ter)
c.5719G>T (p.Glu1907Ter)
c.5710G>T (p.Glu1904Ter)
c.5596G>T (p.Glu1866Ter)
c.3580G>T (p.Glu1194Ter)
c.1270G>T (p.Glu424Ter)
n.5969G>T
 gnomAD v4 COSMIC COSMIC

Number of alleles fetched