Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23915255T>CCA2641297046LAMA3c.2818-34T>C (n.2818-34T>C)
c.7645-34T>C (n.7645-34T>C)
c.4240-34T>C (n.4240-34T>C)
c.7477-34T>C (n.7477-34T>C)
c.2423-34T>C
c.2650-34T>C (n.2650-34T>C)
n.2223-34T>C
c.7672-34T>C (n.7672-34T>C)
c.7663-34T>C (n.7663-34T>C)
c.7654-34T>C (n.7654-34T>C)
c.7540-34T>C (n.7540-34T>C)
c.7375-34T>C (n.7375-34T>C)
c.5524-34T>C (n.5524-34T>C)
c.3214-34T>C (n.3214-34T>C)
n.7913-34T>C
 gnomAD v4
18g.23915256_23915259dupCA628685385LAMA3c.2818-33_2818-30dup (n.2818-33_2818-30dup)
c.7645-33_7645-30dup (n.7645-33_7645-30dup)
c.4240-33_4240-30dup (n.4240-33_4240-30dup)
c.7477-33_7477-30dup (n.7477-33_7477-30dup)
c.2423-33_2423-30dup
c.2650-33_2650-30dup (n.2650-33_2650-30dup)
n.2223-33_2223-30dup
c.7672-33_7672-30dup (n.7672-33_7672-30dup)
c.7663-33_7663-30dup (n.7663-33_7663-30dup)
c.7654-33_7654-30dup (n.7654-33_7654-30dup)
c.7540-33_7540-30dup (n.7540-33_7540-30dup)
c.7375-33_7375-30dup (n.7375-33_7375-30dup)
c.5524-33_5524-30dup (n.5524-33_5524-30dup)
c.3214-33_3214-30dup (n.3214-33_3214-30dup)
n.7913-33_7913-30dup
 dbSNP gnomAD v2 gnomAD v4
18g.23915256C>ACA297109479LAMA3c.2818-33C>A (n.2818-33C>A)
c.7645-33C>A (n.7645-33C>A)
c.4240-33C>A (n.4240-33C>A)
c.7477-33C>A (n.7477-33C>A)
c.2423-33C>A
c.2650-33C>A (n.2650-33C>A)
n.2223-33C>A
c.7672-33C>A (n.7672-33C>A)
c.7663-33C>A (n.7663-33C>A)
c.7654-33C>A (n.7654-33C>A)
c.7540-33C>A (n.7540-33C>A)
c.7375-33C>A (n.7375-33C>A)
c.5524-33C>A (n.5524-33C>A)
c.3214-33C>A (n.3214-33C>A)
n.7913-33C>A
 dbSNP gnomAD v3 gnomAD v4
18g.23915256C=CA2290328881LAMA3c.2818-33C= (n.2818-33C=)
c.7645-33C= (n.7645-33C=)
c.4240-33C= (n.4240-33C=)
c.7477-33C= (n.7477-33C=)
c.2423-33C=
c.2650-33C= (n.2650-33C=)
n.2223-33C=
c.7672-33C= (n.7672-33C=)
c.7663-33C= (n.7663-33C=)
c.7654-33C= (n.7654-33C=)
c.7540-33C= (n.7540-33C=)
c.7375-33C= (n.7375-33C=)
c.5524-33C= (n.5524-33C=)
c.3214-33C= (n.3214-33C=)
n.7913-33C=
18g.23915256C>GCA8916709LAMA3c.2818-33C>G (n.2818-33C>G)
c.7645-33C>G (n.7645-33C>G)
c.4240-33C>G (n.4240-33C>G)
c.7477-33C>G (n.7477-33C>G)
c.2423-33C>G
c.2650-33C>G (n.2650-33C>G)
n.2223-33C>G
c.7672-33C>G (n.7672-33C>G)
c.7663-33C>G (n.7663-33C>G)
c.7654-33C>G (n.7654-33C>G)
c.7540-33C>G (n.7540-33C>G)
c.7375-33C>G (n.7375-33C>G)
c.5524-33C>G (n.5524-33C>G)
c.3214-33C>G (n.3214-33C>G)
n.7913-33C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915256C>TCA2641297051LAMA3c.2818-33C>T (n.2818-33C>T)
c.7645-33C>T (n.7645-33C>T)
c.4240-33C>T (n.4240-33C>T)
c.7477-33C>T (n.7477-33C>T)
c.2423-33C>T
c.2650-33C>T (n.2650-33C>T)
n.2223-33C>T
c.7672-33C>T (n.7672-33C>T)
c.7663-33C>T (n.7663-33C>T)
c.7654-33C>T (n.7654-33C>T)
c.7540-33C>T (n.7540-33C>T)
c.7375-33C>T (n.7375-33C>T)
c.5524-33C>T (n.5524-33C>T)
c.3214-33C>T (n.3214-33C>T)
n.7913-33C>T
 gnomAD v4
18g.23915258A=CA2290328882LAMA3c.2818-31A= (n.2818-31A=)
c.7645-31A= (n.7645-31A=)
c.4240-31A= (n.4240-31A=)
c.7477-31A= (n.7477-31A=)
c.2423-31A=
c.2650-31A= (n.2650-31A=)
n.2223-31A=
c.7672-31A= (n.7672-31A=)
c.7663-31A= (n.7663-31A=)
c.7654-31A= (n.7654-31A=)
c.7540-31A= (n.7540-31A=)
c.7375-31A= (n.7375-31A=)
c.5524-31A= (n.5524-31A=)
c.3214-31A= (n.3214-31A=)
n.7913-31A=
18g.23915258A>GCA988399969LAMA3c.2818-31A>G (n.2818-31A>G)
c.7645-31A>G (n.7645-31A>G)
c.4240-31A>G (n.4240-31A>G)
c.7477-31A>G (n.7477-31A>G)
c.2423-31A>G
c.2650-31A>G (n.2650-31A>G)
n.2223-31A>G
c.7672-31A>G (n.7672-31A>G)
c.7663-31A>G (n.7663-31A>G)
c.7654-31A>G (n.7654-31A>G)
c.7540-31A>G (n.7540-31A>G)
c.7375-31A>G (n.7375-31A>G)
c.5524-31A>G (n.5524-31A>G)
c.3214-31A>G (n.3214-31A>G)
n.7913-31A>G
 dbSNP gnomAD v3 gnomAD v4
18g.23915259T>CCA297109483LAMA3c.2818-30T>C (n.2818-30T>C)
c.7645-30T>C (n.7645-30T>C)
c.4240-30T>C (n.4240-30T>C)
c.7477-30T>C (n.7477-30T>C)
c.2423-30T>C
c.2650-30T>C (n.2650-30T>C)
n.2223-30T>C
c.7672-30T>C (n.7672-30T>C)
c.7663-30T>C (n.7663-30T>C)
c.7654-30T>C (n.7654-30T>C)
c.7540-30T>C (n.7540-30T>C)
c.7375-30T>C (n.7375-30T>C)
c.5524-30T>C (n.5524-30T>C)
c.3214-30T>C (n.3214-30T>C)
n.7913-30T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23915259T=CA2290328885LAMA3c.2818-30T= (n.2818-30T=)
c.7645-30T= (n.7645-30T=)
c.4240-30T= (n.4240-30T=)
c.7477-30T= (n.7477-30T=)
c.2423-30T=
c.2650-30T= (n.2650-30T=)
n.2223-30T=
c.7672-30T= (n.7672-30T=)
c.7663-30T= (n.7663-30T=)
c.7654-30T= (n.7654-30T=)
c.7540-30T= (n.7540-30T=)
c.7375-30T= (n.7375-30T=)
c.5524-30T= (n.5524-30T=)
c.3214-30T= (n.3214-30T=)
n.7913-30T=
18g.23915260T>CCA8916710LAMA3c.2818-29T>C (n.2818-29T>C)
c.7645-29T>C (n.7645-29T>C)
c.4240-29T>C (n.4240-29T>C)
c.7477-29T>C (n.7477-29T>C)
c.2423-29T>C
c.2650-29T>C (n.2650-29T>C)
n.2223-29T>C
c.7672-29T>C (n.7672-29T>C)
c.7663-29T>C (n.7663-29T>C)
c.7654-29T>C (n.7654-29T>C)
c.7540-29T>C (n.7540-29T>C)
c.7375-29T>C (n.7375-29T>C)
c.5524-29T>C (n.5524-29T>C)
c.3214-29T>C (n.3214-29T>C)
n.7913-29T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915260T=CA2290328886LAMA3c.2818-29T= (n.2818-29T=)
c.7645-29T= (n.7645-29T=)
c.4240-29T= (n.4240-29T=)
c.7477-29T= (n.7477-29T=)
c.2423-29T=
c.2650-29T= (n.2650-29T=)
n.2223-29T=
c.7672-29T= (n.7672-29T=)
c.7663-29T= (n.7663-29T=)
c.7654-29T= (n.7654-29T=)
c.7540-29T= (n.7540-29T=)
c.7375-29T= (n.7375-29T=)
c.5524-29T= (n.5524-29T=)
c.3214-29T= (n.3214-29T=)
n.7913-29T=
18g.23915261G>CCA2290328888LAMA3c.2818-28G>C (n.2818-28G>C)
c.7645-28G>C (n.7645-28G>C)
c.4240-28G>C (n.4240-28G>C)
c.7477-28G>C (n.7477-28G>C)
c.2423-28G>C
c.2650-28G>C (n.2650-28G>C)
n.2223-28G>C
c.7672-28G>C (n.7672-28G>C)
c.7663-28G>C (n.7663-28G>C)
c.7654-28G>C (n.7654-28G>C)
c.7540-28G>C (n.7540-28G>C)
c.7375-28G>C (n.7375-28G>C)
c.5524-28G>C (n.5524-28G>C)
c.3214-28G>C (n.3214-28G>C)
n.7913-28G>C
 dbSNP
18g.23915261G=CA2290328887LAMA3c.2818-28G= (n.2818-28G=)
c.7645-28G= (n.7645-28G=)
c.4240-28G= (n.4240-28G=)
c.7477-28G= (n.7477-28G=)
c.2423-28G=
c.2650-28G= (n.2650-28G=)
n.2223-28G=
c.7672-28G= (n.7672-28G=)
c.7663-28G= (n.7663-28G=)
c.7654-28G= (n.7654-28G=)
c.7540-28G= (n.7540-28G=)
c.7375-28G= (n.7375-28G=)
c.5524-28G= (n.5524-28G=)
c.3214-28G= (n.3214-28G=)
n.7913-28G=
18g.23915261G>TCA2641297054LAMA3c.2818-28G>T (n.2818-28G>T)
c.7645-28G>T (n.7645-28G>T)
c.4240-28G>T (n.4240-28G>T)
c.7477-28G>T (n.7477-28G>T)
c.2423-28G>T
c.2650-28G>T (n.2650-28G>T)
n.2223-28G>T
c.7672-28G>T (n.7672-28G>T)
c.7663-28G>T (n.7663-28G>T)
c.7654-28G>T (n.7654-28G>T)
c.7540-28G>T (n.7540-28G>T)
c.7375-28G>T (n.7375-28G>T)
c.5524-28G>T (n.5524-28G>T)
c.3214-28G>T (n.3214-28G>T)
n.7913-28G>T
 gnomAD v4
18g.23915262G>ACA8916711LAMA3c.2818-27G>A (n.2818-27G>A)
c.7645-27G>A (n.7645-27G>A)
c.4240-27G>A (n.4240-27G>A)
c.7477-27G>A (n.7477-27G>A)
c.2423-27G>A
c.2650-27G>A (n.2650-27G>A)
n.2223-27G>A
c.7672-27G>A (n.7672-27G>A)
c.7663-27G>A (n.7663-27G>A)
c.7654-27G>A (n.7654-27G>A)
c.7540-27G>A (n.7540-27G>A)
c.7375-27G>A (n.7375-27G>A)
c.5524-27G>A (n.5524-27G>A)
c.3214-27G>A (n.3214-27G>A)
n.7913-27G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915262G=CA2290328890LAMA3c.2818-27G= (n.2818-27G=)
c.7645-27G= (n.7645-27G=)
c.4240-27G= (n.4240-27G=)
c.7477-27G= (n.7477-27G=)
c.2423-27G=
c.2650-27G= (n.2650-27G=)
n.2223-27G=
c.7672-27G= (n.7672-27G=)
c.7663-27G= (n.7663-27G=)
c.7654-27G= (n.7654-27G=)
c.7540-27G= (n.7540-27G=)
c.7375-27G= (n.7375-27G=)
c.5524-27G= (n.5524-27G=)
c.3214-27G= (n.3214-27G=)
n.7913-27G=
18g.23915265G>ACA2641297055LAMA3c.2818-24G>A (n.2818-24G>A)
c.7645-24G>A (n.7645-24G>A)
c.4240-24G>A (n.4240-24G>A)
c.7477-24G>A (n.7477-24G>A)
c.2423-24G>A
c.2650-24G>A (n.2650-24G>A)
n.2223-24G>A
c.7672-24G>A (n.7672-24G>A)
c.7663-24G>A (n.7663-24G>A)
c.7654-24G>A (n.7654-24G>A)
c.7540-24G>A (n.7540-24G>A)
c.7375-24G>A (n.7375-24G>A)
c.5524-24G>A (n.5524-24G>A)
c.3214-24G>A (n.3214-24G>A)
n.7913-24G>A
 gnomAD v4
18g.23915268G=CA2290328892LAMA3c.2818-21G= (n.2818-21G=)
c.7645-21G= (n.7645-21G=)
c.4240-21G= (n.4240-21G=)
c.7477-21G= (n.7477-21G=)
c.2423-21G=
c.2650-21G= (n.2650-21G=)
n.2223-21G=
c.7672-21G= (n.7672-21G=)
c.7663-21G= (n.7663-21G=)
c.7654-21G= (n.7654-21G=)
c.7540-21G= (n.7540-21G=)
c.7375-21G= (n.7375-21G=)
c.5524-21G= (n.5524-21G=)
c.3214-21G= (n.3214-21G=)
n.7913-21G=
18g.23915268G>TCA628685386LAMA3c.2818-21G>T (n.2818-21G>T)
c.7645-21G>T (n.7645-21G>T)
c.4240-21G>T (n.4240-21G>T)
c.7477-21G>T (n.7477-21G>T)
c.2423-21G>T
c.2650-21G>T (n.2650-21G>T)
n.2223-21G>T
c.7672-21G>T (n.7672-21G>T)
c.7663-21G>T (n.7663-21G>T)
c.7654-21G>T (n.7654-21G>T)
c.7540-21G>T (n.7540-21G>T)
c.7375-21G>T (n.7375-21G>T)
c.5524-21G>T (n.5524-21G>T)
c.3214-21G>T (n.3214-21G>T)
n.7913-21G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23915269A=CA2290328893LAMA3c.2818-20A= (n.2818-20A=)
c.7645-20A= (n.7645-20A=)
c.4240-20A= (n.4240-20A=)
c.7477-20A= (n.7477-20A=)
c.2423-20A=
c.2650-20A= (n.2650-20A=)
n.2223-20A=
c.7672-20A= (n.7672-20A=)
c.7663-20A= (n.7663-20A=)
c.7654-20A= (n.7654-20A=)
c.7540-20A= (n.7540-20A=)
c.7375-20A= (n.7375-20A=)
c.5524-20A= (n.5524-20A=)
c.3214-20A= (n.3214-20A=)
n.7913-20A=
18g.23915269A>GCA8916712LAMA3c.2818-20A>G (n.2818-20A>G)
c.7645-20A>G (n.7645-20A>G)
c.4240-20A>G (n.4240-20A>G)
c.7477-20A>G (n.7477-20A>G)
c.2423-20A>G
c.2650-20A>G (n.2650-20A>G)
n.2223-20A>G
c.7672-20A>G (n.7672-20A>G)
c.7663-20A>G (n.7663-20A>G)
c.7654-20A>G (n.7654-20A>G)
c.7540-20A>G (n.7540-20A>G)
c.7375-20A>G (n.7375-20A>G)
c.5524-20A>G (n.5524-20A>G)
c.3214-20A>G (n.3214-20A>G)
n.7913-20A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915269A>TCA628685387LAMA3c.2818-20A>T (n.2818-20A>T)
c.7645-20A>T (n.7645-20A>T)
c.4240-20A>T (n.4240-20A>T)
c.7477-20A>T (n.7477-20A>T)
c.2423-20A>T
c.2650-20A>T (n.2650-20A>T)
n.2223-20A>T
c.7672-20A>T (n.7672-20A>T)
c.7663-20A>T (n.7663-20A>T)
c.7654-20A>T (n.7654-20A>T)
c.7540-20A>T (n.7540-20A>T)
c.7375-20A>T (n.7375-20A>T)
c.5524-20A>T (n.5524-20A>T)
c.3214-20A>T (n.3214-20A>T)
n.7913-20A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23915270T>GCA8916713LAMA3c.2818-19T>G (n.2818-19T>G)
c.7645-19T>G (n.7645-19T>G)
c.4240-19T>G (n.4240-19T>G)
c.7477-19T>G (n.7477-19T>G)
c.2423-19T>G
c.2650-19T>G (n.2650-19T>G)
n.2223-19T>G
c.7672-19T>G (n.7672-19T>G)
c.7663-19T>G (n.7663-19T>G)
c.7654-19T>G (n.7654-19T>G)
c.7540-19T>G (n.7540-19T>G)
c.7375-19T>G (n.7375-19T>G)
c.5524-19T>G (n.5524-19T>G)
c.3214-19T>G (n.3214-19T>G)
n.7913-19T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915270T=CA2290328894LAMA3c.2818-19T= (n.2818-19T=)
c.7645-19T= (n.7645-19T=)
c.4240-19T= (n.4240-19T=)
c.7477-19T= (n.7477-19T=)
c.2423-19T=
c.2650-19T= (n.2650-19T=)
n.2223-19T=
c.7672-19T= (n.7672-19T=)
c.7663-19T= (n.7663-19T=)
c.7654-19T= (n.7654-19T=)
c.7540-19T= (n.7540-19T=)
c.7375-19T= (n.7375-19T=)
c.5524-19T= (n.5524-19T=)
c.3214-19T= (n.3214-19T=)
n.7913-19T=
18g.23915271delCA2697555323LAMA3c.2818-18del (n.2818-18del)
c.7645-18del (n.7645-18del)
c.4240-18del (n.4240-18del)
c.7477-18del (n.7477-18del)
c.2423-18del
c.2650-18del (n.2650-18del)
n.2223-18del
c.7672-18del (n.7672-18del)
c.7663-18del (n.7663-18del)
c.7654-18del (n.7654-18del)
c.7540-18del (n.7540-18del)
c.7375-18del (n.7375-18del)
c.5524-18del (n.5524-18del)
c.3214-18del (n.3214-18del)
n.7913-18del
 ClinVar
18g.23915273T>CCA2290328897LAMA3c.2818-16T>C (n.2818-16T>C)
c.7645-16T>C (n.7645-16T>C)
c.4240-16T>C (n.4240-16T>C)
c.7477-16T>C (n.7477-16T>C)
c.2423-16T>C
c.2650-16T>C (n.2650-16T>C)
n.2223-16T>C
c.7672-16T>C (n.7672-16T>C)
c.7663-16T>C (n.7663-16T>C)
c.7654-16T>C (n.7654-16T>C)
c.7540-16T>C (n.7540-16T>C)
c.7375-16T>C (n.7375-16T>C)
c.5524-16T>C (n.5524-16T>C)
c.3214-16T>C (n.3214-16T>C)
n.7913-16T>C
 dbSNP gnomAD v4
18g.23915273T>GCA8916714LAMA3c.2818-16T>G (n.2818-16T>G)
c.7645-16T>G (n.7645-16T>G)
c.4240-16T>G (n.4240-16T>G)
c.7477-16T>G (n.7477-16T>G)
c.2423-16T>G
c.2650-16T>G (n.2650-16T>G)
n.2223-16T>G
c.7672-16T>G (n.7672-16T>G)
c.7663-16T>G (n.7663-16T>G)
c.7654-16T>G (n.7654-16T>G)
c.7540-16T>G (n.7540-16T>G)
c.7375-16T>G (n.7375-16T>G)
c.5524-16T>G (n.5524-16T>G)
c.3214-16T>G (n.3214-16T>G)
n.7913-16T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915273T=CA2290328896LAMA3c.2818-16T= (n.2818-16T=)
c.7645-16T= (n.7645-16T=)
c.4240-16T= (n.4240-16T=)
c.7477-16T= (n.7477-16T=)
c.2423-16T=
c.2650-16T= (n.2650-16T=)
n.2223-16T=
c.7672-16T= (n.7672-16T=)
c.7663-16T= (n.7663-16T=)
c.7654-16T= (n.7654-16T=)
c.7540-16T= (n.7540-16T=)
c.7375-16T= (n.7375-16T=)
c.5524-16T= (n.5524-16T=)
c.3214-16T= (n.3214-16T=)
n.7913-16T=
18g.23915276A=CA2290328898LAMA3c.2818-13A= (n.2818-13A=)
c.7645-13A= (n.7645-13A=)
c.4240-13A= (n.4240-13A=)
c.7477-13A= (n.7477-13A=)
c.2423-13A=
c.2650-13A= (n.2650-13A=)
n.2223-13A=
c.7672-13A= (n.7672-13A=)
c.7663-13A= (n.7663-13A=)
c.7654-13A= (n.7654-13A=)
c.7540-13A= (n.7540-13A=)
c.7375-13A= (n.7375-13A=)
c.5524-13A= (n.5524-13A=)
c.3214-13A= (n.3214-13A=)
n.7913-13A=
18g.23915276A>TCA777728752LAMA3c.2818-13A>T (n.2818-13A>T)
c.7645-13A>T (n.7645-13A>T)
c.4240-13A>T (n.4240-13A>T)
c.7477-13A>T (n.7477-13A>T)
c.2423-13A>T
c.2650-13A>T (n.2650-13A>T)
n.2223-13A>T
c.7672-13A>T (n.7672-13A>T)
c.7663-13A>T (n.7663-13A>T)
c.7654-13A>T (n.7654-13A>T)
c.7540-13A>T (n.7540-13A>T)
c.7375-13A>T (n.7375-13A>T)
c.5524-13A>T (n.5524-13A>T)
c.3214-13A>T (n.3214-13A>T)
n.7913-13A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23915278T>CCA777728755LAMA3c.2818-11T>C (n.2818-11T>C)
c.7645-11T>C (n.7645-11T>C)
c.4240-11T>C (n.4240-11T>C)
c.7477-11T>C (n.7477-11T>C)
c.2423-11T>C
c.2650-11T>C (n.2650-11T>C)
n.2223-11T>C
c.7672-11T>C (n.7672-11T>C)
c.7663-11T>C (n.7663-11T>C)
c.7654-11T>C (n.7654-11T>C)
c.7540-11T>C (n.7540-11T>C)
c.7375-11T>C (n.7375-11T>C)
c.5524-11T>C (n.5524-11T>C)
c.3214-11T>C (n.3214-11T>C)
n.7913-11T>C
 dbSNP gnomAD v3 gnomAD v4
18g.23915278T>GCA2641297059LAMA3c.2818-11T>G (n.2818-11T>G)
c.7645-11T>G (n.7645-11T>G)
c.4240-11T>G (n.4240-11T>G)
c.7477-11T>G (n.7477-11T>G)
c.2423-11T>G
c.2650-11T>G (n.2650-11T>G)
n.2223-11T>G
c.7672-11T>G (n.7672-11T>G)
c.7663-11T>G (n.7663-11T>G)
c.7654-11T>G (n.7654-11T>G)
c.7540-11T>G (n.7540-11T>G)
c.7375-11T>G (n.7375-11T>G)
c.5524-11T>G (n.5524-11T>G)
c.3214-11T>G (n.3214-11T>G)
n.7913-11T>G
 gnomAD v4
18g.23915278T=CA2290328899LAMA3c.2818-11T= (n.2818-11T=)
c.7645-11T= (n.7645-11T=)
c.4240-11T= (n.4240-11T=)
c.7477-11T= (n.7477-11T=)
c.2423-11T=
c.2650-11T= (n.2650-11T=)
n.2223-11T=
c.7672-11T= (n.7672-11T=)
c.7663-11T= (n.7663-11T=)
c.7654-11T= (n.7654-11T=)
c.7540-11T= (n.7540-11T=)
c.7375-11T= (n.7375-11T=)
c.5524-11T= (n.5524-11T=)
c.3214-11T= (n.3214-11T=)
n.7913-11T=
18g.23915280C>ACA2641297060LAMA3c.2818-9C>A (n.2818-9C>A)
c.7645-9C>A (n.7645-9C>A)
c.4240-9C>A (n.4240-9C>A)
c.7477-9C>A (n.7477-9C>A)
c.2423-9C>A
c.2650-9C>A (n.2650-9C>A)
n.2223-9C>A
c.7672-9C>A (n.7672-9C>A)
c.7663-9C>A (n.7663-9C>A)
c.7654-9C>A (n.7654-9C>A)
c.7540-9C>A (n.7540-9C>A)
c.7375-9C>A (n.7375-9C>A)
c.5524-9C>A (n.5524-9C>A)
c.3214-9C>A (n.3214-9C>A)
n.7913-9C>A
 gnomAD v4
18g.23915280_23915281delinsCACA2290328900LAMA3c.2818-9_2818-8delinsCA (n.2818-9_2818-8delinsCA)
c.7645-9_7645-8delinsCA (n.7645-9_7645-8delinsCA)
c.4240-9_4240-8delinsCA (n.4240-9_4240-8delinsCA)
c.7477-9_7477-8delinsCA (n.7477-9_7477-8delinsCA)
c.2423-9_2423-8delinsCA
c.2650-9_2650-8delinsCA (n.2650-9_2650-8delinsCA)
n.2223-9_2223-8delinsCA
c.7672-9_7672-8delinsCA (n.7672-9_7672-8delinsCA)
c.7663-9_7663-8delinsCA (n.7663-9_7663-8delinsCA)
c.7654-9_7654-8delinsCA (n.7654-9_7654-8delinsCA)
c.7540-9_7540-8delinsCA (n.7540-9_7540-8delinsCA)
c.7375-9_7375-8delinsCA (n.7375-9_7375-8delinsCA)
c.5524-9_5524-8delinsCA (n.5524-9_5524-8delinsCA)
c.3214-9_3214-8delinsCA (n.3214-9_3214-8delinsCA)
n.7913-9_7913-8delinsCA
18g.23915281delCA2290328902LAMA3c.2818-8del (n.2818-8del)
c.7645-8del (n.7645-8del)
c.4240-8del (n.4240-8del)
c.7477-8del (n.7477-8del)
c.2423-8del
c.2650-8del (n.2650-8del)
n.2223-8del
c.7672-8del (n.7672-8del)
c.7663-8del (n.7663-8del)
c.7654-8del (n.7654-8del)
c.7540-8del (n.7540-8del)
c.7375-8del (n.7375-8del)
c.5524-8del (n.5524-8del)
c.3214-8del (n.3214-8del)
n.7913-8del
 dbSNP
18g.23915281A=CA2290328903LAMA3c.2818-8A= (n.2818-8A=)
c.7645-8A= (n.7645-8A=)
c.4240-8A= (n.4240-8A=)
c.7477-8A= (n.7477-8A=)
c.2423-8A=
c.2650-8A= (n.2650-8A=)
n.2223-8A=
c.7672-8A= (n.7672-8A=)
c.7663-8A= (n.7663-8A=)
c.7654-8A= (n.7654-8A=)
c.7540-8A= (n.7540-8A=)
c.7375-8A= (n.7375-8A=)
c.5524-8A= (n.5524-8A=)
c.3214-8A= (n.3214-8A=)
n.7913-8A=
18g.23915281A>GCA628685388LAMA3c.2818-8A>G (n.2818-8A>G)
c.7645-8A>G (n.7645-8A>G)
c.4240-8A>G (n.4240-8A>G)
c.7477-8A>G (n.7477-8A>G)
c.2423-8A>G
c.2650-8A>G (n.2650-8A>G)
n.2223-8A>G
c.7672-8A>G (n.7672-8A>G)
c.7663-8A>G (n.7663-8A>G)
c.7654-8A>G (n.7654-8A>G)
c.7540-8A>G (n.7540-8A>G)
c.7375-8A>G (n.7375-8A>G)
c.5524-8A>G (n.5524-8A>G)
c.3214-8A>G (n.3214-8A>G)
n.7913-8A>G
 ClinVar dbSNP gnomAD v2
18g.23915283T>CCA2641297061LAMA3c.2818-6T>C (n.2818-6T>C)
c.7645-6T>C (n.7645-6T>C)
c.4240-6T>C (n.4240-6T>C)
c.7477-6T>C (n.7477-6T>C)
c.2423-6T>C
c.2650-6T>C (n.2650-6T>C)
n.2223-6T>C
c.7672-6T>C (n.7672-6T>C)
c.7663-6T>C (n.7663-6T>C)
c.7654-6T>C (n.7654-6T>C)
c.7540-6T>C (n.7540-6T>C)
c.7375-6T>C (n.7375-6T>C)
c.5524-6T>C (n.5524-6T>C)
c.3214-6T>C (n.3214-6T>C)
n.7913-6T>C
 gnomAD v4
18g.23915286C>ACA2576473120LAMA3c.2818-3C>A (n.2818-3C>A)
c.7645-3C>A (n.7645-3C>A)
c.4240-3C>A (n.4240-3C>A)
c.7477-3C>A (n.7477-3C>A)
c.2423-3C>A
c.2650-3C>A (n.2650-3C>A)
n.2223-3C>A
c.7672-3C>A (n.7672-3C>A)
c.7663-3C>A (n.7663-3C>A)
c.7654-3C>A (n.7654-3C>A)
c.7540-3C>A (n.7540-3C>A)
c.7375-3C>A (n.7375-3C>A)
c.5524-3C>A (n.5524-3C>A)
c.3214-3C>A (n.3214-3C>A)
n.7913-3C>A
18g.23915286C=CA2290328905LAMA3c.2818-3C= (n.2818-3C=)
c.7645-3C= (n.7645-3C=)
c.4240-3C= (n.4240-3C=)
c.7477-3C= (n.7477-3C=)
c.2423-3C=
c.2650-3C= (n.2650-3C=)
n.2223-3C=
c.7672-3C= (n.7672-3C=)
c.7663-3C= (n.7663-3C=)
c.7654-3C= (n.7654-3C=)
c.7540-3C= (n.7540-3C=)
c.7375-3C= (n.7375-3C=)
c.5524-3C= (n.5524-3C=)
c.3214-3C= (n.3214-3C=)
n.7913-3C=
18g.23915286C>GCA628685389LAMA3c.2818-3C>G (n.2818-3C>G)
c.7645-3C>G (n.7645-3C>G)
c.4240-3C>G (n.4240-3C>G)
c.7477-3C>G (n.7477-3C>G)
c.2423-3C>G
c.2650-3C>G (n.2650-3C>G)
n.2223-3C>G
c.7672-3C>G (n.7672-3C>G)
c.7663-3C>G (n.7663-3C>G)
c.7654-3C>G (n.7654-3C>G)
c.7540-3C>G (n.7540-3C>G)
c.7375-3C>G (n.7375-3C>G)
c.5524-3C>G (n.5524-3C>G)
c.3214-3C>G (n.3214-3C>G)
n.7913-3C>G
 dbSNP gnomAD v2
18g.23915287A>CCA402058011LAMA3c.2818-2A>C (n.2818-2A>C)
c.7645-2A>C (n.7645-2A>C)
c.4240-2A>C (n.4240-2A>C)
c.7477-2A>C (n.7477-2A>C)
c.2423-2A>C
c.2650-2A>C (n.2650-2A>C)
n.2223-2A>C
c.7672-2A>C (n.7672-2A>C)
c.7663-2A>C (n.7663-2A>C)
c.7654-2A>C (n.7654-2A>C)
c.7540-2A>C (n.7540-2A>C)
c.7375-2A>C (n.7375-2A>C)
c.5524-2A>C (n.5524-2A>C)
c.3214-2A>C (n.3214-2A>C)
n.7913-2A>C
18g.23915287A>GCA402058007LAMA3c.2818-2A>G (n.2818-2A>G)
c.7645-2A>G (n.7645-2A>G)
c.4240-2A>G (n.4240-2A>G)
c.7477-2A>G (n.7477-2A>G)
c.2423-2A>G
c.2650-2A>G (n.2650-2A>G)
n.2223-2A>G
c.7672-2A>G (n.7672-2A>G)
c.7663-2A>G (n.7663-2A>G)
c.7654-2A>G (n.7654-2A>G)
c.7540-2A>G (n.7540-2A>G)
c.7375-2A>G (n.7375-2A>G)
c.5524-2A>G (n.5524-2A>G)
c.3214-2A>G (n.3214-2A>G)
n.7913-2A>G
18g.23915287A>TCA402058013LAMA3c.2818-2A>T (n.2818-2A>T)
c.7645-2A>T (n.7645-2A>T)
c.4240-2A>T (n.4240-2A>T)
c.7477-2A>T (n.7477-2A>T)
c.2423-2A>T
c.2650-2A>T (n.2650-2A>T)
n.2223-2A>T
c.7672-2A>T (n.7672-2A>T)
c.7663-2A>T (n.7663-2A>T)
c.7654-2A>T (n.7654-2A>T)
c.7540-2A>T (n.7540-2A>T)
c.7375-2A>T (n.7375-2A>T)
c.5524-2A>T (n.5524-2A>T)
c.3214-2A>T (n.3214-2A>T)
n.7913-2A>T
18g.23915288delCA2811822935LAMA3c.2818-1del (n.2818-1del)
c.7645-1del (n.7645-1del)
c.4240-1del (n.4240-1del)
c.7477-1del (n.7477-1del)
c.2423-1del
c.2650-1del (n.2650-1del)
n.2223-1del
c.7672-1del (n.7672-1del)
c.7663-1del (n.7663-1del)
c.7654-1del (n.7654-1del)
c.7540-1del (n.7540-1del)
c.7375-1del (n.7375-1del)
c.5524-1del (n.5524-1del)
c.3214-1del (n.3214-1del)
n.7913-1del
18g.23915288G>ACA402058018LAMA3c.2818-1G>A (n.2818-1G>A)
c.7645-1G>A (n.7645-1G>A)
c.4240-1G>A (n.4240-1G>A)
c.7477-1G>A (n.7477-1G>A)
c.2423-1G>A
c.2650-1G>A (n.2650-1G>A)
n.2223-1G>A
c.7672-1G>A (n.7672-1G>A)
c.7663-1G>A (n.7663-1G>A)
c.7654-1G>A (n.7654-1G>A)
c.7540-1G>A (n.7540-1G>A)
c.7375-1G>A (n.7375-1G>A)
c.5524-1G>A (n.5524-1G>A)
c.3214-1G>A (n.3214-1G>A)
n.7913-1G>A
 gnomAD v4
18g.23915288G>CCA402058020LAMA3c.2818-1G>C (n.2818-1G>C)
c.7645-1G>C (n.7645-1G>C)
c.4240-1G>C (n.4240-1G>C)
c.7477-1G>C (n.7477-1G>C)
c.2423-1G>C
c.2650-1G>C (n.2650-1G>C)
n.2223-1G>C
c.7672-1G>C (n.7672-1G>C)
c.7663-1G>C (n.7663-1G>C)
c.7654-1G>C (n.7654-1G>C)
c.7540-1G>C (n.7540-1G>C)
c.7375-1G>C (n.7375-1G>C)
c.5524-1G>C (n.5524-1G>C)
c.3214-1G>C (n.3214-1G>C)
n.7913-1G>C
 dbSNP gnomAD v4
18g.23915288G=CA2290328906LAMA3c.2818-1G= (n.2818-1G=)
c.7645-1G= (n.7645-1G=)
c.4240-1G= (n.4240-1G=)
c.7477-1G= (n.7477-1G=)
c.2423-1G=
c.2650-1G= (n.2650-1G=)
n.2223-1G=
c.7672-1G= (n.7672-1G=)
c.7663-1G= (n.7663-1G=)
c.7654-1G= (n.7654-1G=)
c.7540-1G= (n.7540-1G=)
c.7375-1G= (n.7375-1G=)
c.5524-1G= (n.5524-1G=)
c.3214-1G= (n.3214-1G=)
n.7913-1G=
18g.23915288G>TCA402058023LAMA3c.2818-1G>T (n.2818-1G>T)
c.7645-1G>T (n.7645-1G>T)
c.4240-1G>T (n.4240-1G>T)
c.7477-1G>T (n.7477-1G>T)
c.2423-1G>T
c.2650-1G>T (n.2650-1G>T)
n.2223-1G>T
c.7672-1G>T (n.7672-1G>T)
c.7663-1G>T (n.7663-1G>T)
c.7654-1G>T (n.7654-1G>T)
c.7540-1G>T (n.7540-1G>T)
c.7375-1G>T (n.7375-1G>T)
c.5524-1G>T (n.5524-1G>T)
c.3214-1G>T (n.3214-1G>T)
n.7913-1G>T
 COSMIC COSMIC
18g.23915289C>ACA402058026LAMA3c.2818C>A (p.Leu940Ile)
c.7645C>A (p.Leu2549Ile)
c.4240C>A (p.Leu1414Ile)
c.7477C>A (p.Leu2493Ile)
c.2423C>A
c.2650C>A (p.Leu884Ile)
n.2223C>A
c.7672C>A (p.Leu2558Ile)
c.7663C>A (p.Leu2555Ile)
c.7654C>A (p.Leu2552Ile)
c.7540C>A (p.Leu2514Ile)
c.7375C>A (p.Leu2459Ile)
c.5524C>A (p.Leu1842Ile)
c.3214C>A (p.Leu1072Ile)
n.7913C>A
18g.23915289C>GCA402058029LAMA3c.2818C>G (p.Leu940Val)
c.7645C>G (p.Leu2549Val)
c.4240C>G (p.Leu1414Val)
c.7477C>G (p.Leu2493Val)
c.2423C>G
c.2650C>G (p.Leu884Val)
n.2223C>G
c.7672C>G (p.Leu2558Val)
c.7663C>G (p.Leu2555Val)
c.7654C>G (p.Leu2552Val)
c.7540C>G (p.Leu2514Val)
c.7375C>G (p.Leu2459Val)
c.5524C>G (p.Leu1842Val)
c.3214C>G (p.Leu1072Val)
n.7913C>G
18g.23915289C>TCA402058032LAMA3c.2818C>T (p.Leu940Phe)
c.7645C>T (p.Leu2549Phe)
c.4240C>T (p.Leu1414Phe)
c.7477C>T (p.Leu2493Phe)
c.2423C>T
c.2650C>T (p.Leu884Phe)
n.2223C>T
c.7672C>T (p.Leu2558Phe)
c.7663C>T (p.Leu2555Phe)
c.7654C>T (p.Leu2552Phe)
c.7540C>T (p.Leu2514Phe)
c.7375C>T (p.Leu2459Phe)
c.5524C>T (p.Leu1842Phe)
c.3214C>T (p.Leu1072Phe)
n.7913C>T
 gnomAD v4
18g.23915290T>ACA402058035LAMA3c.2819T>A (p.Leu940His)
c.7646T>A (p.Leu2549His)
c.4241T>A (p.Leu1414His)
c.7478T>A (p.Leu2493His)
c.2424T>A
c.2651T>A (p.Leu884His)
n.2224T>A
c.7673T>A (p.Leu2558His)
c.7664T>A (p.Leu2555His)
c.7655T>A (p.Leu2552His)
c.7541T>A (p.Leu2514His)
c.7376T>A (p.Leu2459His)
c.5525T>A (p.Leu1842His)
c.3215T>A (p.Leu1072His)
n.7914T>A
18g.23915290T>CCA402058039LAMA3c.2819T>C (p.Leu940Pro)
c.7646T>C (p.Leu2549Pro)
c.4241T>C (p.Leu1414Pro)
c.7478T>C (p.Leu2493Pro)
c.2424T>C
c.2651T>C (p.Leu884Pro)
n.2224T>C
c.7673T>C (p.Leu2558Pro)
c.7664T>C (p.Leu2555Pro)
c.7655T>C (p.Leu2552Pro)
c.7541T>C (p.Leu2514Pro)
c.7376T>C (p.Leu2459Pro)
c.5525T>C (p.Leu1842Pro)
c.3215T>C (p.Leu1072Pro)
n.7914T>C
18g.23915290T>GCA402058041LAMA3c.2819T>G (p.Leu940Arg)
c.7646T>G (p.Leu2549Arg)
c.4241T>G (p.Leu1414Arg)
c.7478T>G (p.Leu2493Arg)
c.2424T>G
c.2651T>G (p.Leu884Arg)
n.2224T>G
c.7673T>G (p.Leu2558Arg)
c.7664T>G (p.Leu2555Arg)
c.7655T>G (p.Leu2552Arg)
c.7541T>G (p.Leu2514Arg)
c.7376T>G (p.Leu2459Arg)
c.5525T>G (p.Leu1842Arg)
c.3215T>G (p.Leu1072Arg)
n.7914T>G
18g.23915291T>ACA503339177LAMA3c.2820T>A (p.Leu940=)
c.7647T>A (p.Leu2549=)
c.4242T>A (p.Leu1414=)
c.7479T>A (p.Leu2493=)
c.2425T>A
c.2652T>A (p.Leu884=)
n.2225T>A
c.7674T>A (p.Leu2558=)
c.7665T>A (p.Leu2555=)
c.7656T>A (p.Leu2552=)
c.7542T>A (p.Leu2514=)
c.7377T>A (p.Leu2459=)
c.5526T>A (p.Leu1842=)
c.3216T>A (p.Leu1072=)
n.7915T>A
18g.23915291T>CCA8916715LAMA3c.2820T>C (p.Leu940=)
c.7647T>C (p.Leu2549=)
c.4242T>C (p.Leu1414=)
c.7479T>C (p.Leu2493=)
c.2425T>C
c.2652T>C (p.Leu884=)
n.2225T>C
c.7674T>C (p.Leu2558=)
c.7665T>C (p.Leu2555=)
c.7656T>C (p.Leu2552=)
c.7542T>C (p.Leu2514=)
c.7377T>C (p.Leu2459=)
c.5526T>C (p.Leu1842=)
c.3216T>C (p.Leu1072=)
n.7915T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915291T>GCA503339180LAMA3c.2820T>G (p.Leu940=)
c.7647T>G (p.Leu2549=)
c.4242T>G (p.Leu1414=)
c.7479T>G (p.Leu2493=)
c.2425T>G
c.2652T>G (p.Leu884=)
n.2225T>G
c.7674T>G (p.Leu2558=)
c.7665T>G (p.Leu2555=)
c.7656T>G (p.Leu2552=)
c.7542T>G (p.Leu2514=)
c.7377T>G (p.Leu2459=)
c.5526T>G (p.Leu1842=)
c.3216T>G (p.Leu1072=)
n.7915T>G
18g.23915291T=CA2290328907LAMA3c.2820T= (p.Leu940=)
c.7647T= (p.Leu2549=)
c.4242T= (p.Leu1414=)
c.7479T= (p.Leu2493=)
c.2425T=
c.2652T= (p.Leu884=)
n.2225T=
c.7674T= (p.Leu2558=)
c.7665T= (p.Leu2555=)
c.7656T= (p.Leu2552=)
c.7542T= (p.Leu2514=)
c.7377T= (p.Leu2459=)
c.5526T= (p.Leu1842=)
c.3216T= (p.Leu1072=)
n.7915T=
18g.23915292C>ACA8916716LAMA3c.2821C>A (p.Pro941Thr)
c.7648C>A (p.Pro2550Thr)
c.4243C>A (p.Pro1415Thr)
c.7480C>A (p.Pro2494Thr)
c.2426C>A
c.2653C>A (p.Pro885Thr)
n.2226C>A
c.7675C>A (p.Pro2559Thr)
c.7666C>A (p.Pro2556Thr)
c.7657C>A (p.Pro2553Thr)
c.7543C>A (p.Pro2515Thr)
c.7378C>A (p.Pro2460Thr)
c.5527C>A (p.Pro1843Thr)
c.3217C>A (p.Pro1073Thr)
n.7916C>A
 dbSNP ExAC gnomAD v2
18g.23915292C=CA2290328909LAMA3c.2821C= (p.Pro941=)
c.7648C= (p.Pro2550=)
c.4243C= (p.Pro1415=)
c.7480C= (p.Pro2494=)
c.2426C=
c.2653C= (p.Pro885=)
n.2226C=
c.7675C= (p.Pro2559=)
c.7666C= (p.Pro2556=)
c.7657C= (p.Pro2553=)
c.7543C= (p.Pro2515=)
c.7378C= (p.Pro2460=)
c.5527C= (p.Pro1843=)
c.3217C= (p.Pro1073=)
n.7916C=
18g.23915292C>GCA402058049LAMA3c.2821C>G (p.Pro941Ala)
c.7648C>G (p.Pro2550Ala)
c.4243C>G (p.Pro1415Ala)
c.7480C>G (p.Pro2494Ala)
c.2426C>G
c.2653C>G (p.Pro885Ala)
n.2226C>G
c.7675C>G (p.Pro2559Ala)
c.7666C>G (p.Pro2556Ala)
c.7657C>G (p.Pro2553Ala)
c.7543C>G (p.Pro2515Ala)
c.7378C>G (p.Pro2460Ala)
c.5527C>G (p.Pro1843Ala)
c.3217C>G (p.Pro1073Ala)
n.7916C>G
18g.23915292C>TCA402058052LAMA3c.2821C>T (p.Pro941Ser)
c.7648C>T (p.Pro2550Ser)
c.4243C>T (p.Pro1415Ser)
c.7480C>T (p.Pro2494Ser)
c.2426C>T
c.2653C>T (p.Pro885Ser)
n.2226C>T
c.7675C>T (p.Pro2559Ser)
c.7666C>T (p.Pro2556Ser)
c.7657C>T (p.Pro2553Ser)
c.7543C>T (p.Pro2515Ser)
c.7378C>T (p.Pro2460Ser)
c.5527C>T (p.Pro1843Ser)
c.3217C>T (p.Pro1073Ser)
n.7916C>T
18g.23915292_23915293insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTACA2811822936LAMA3c.2821_2822insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro941GlnfsTer44)
c.7648_7649insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro2550GlnfsTer44)
c.4243_4244insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro1415GlnfsTer44)
c.7480_7481insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro2494GlnfsTer44)
c.2426_2427insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA
c.2653_2654insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro885GlnfsTer44)
n.2226_2227insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA
c.7675_7676insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro2559GlnfsTer44)
c.7666_7667insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro2556GlnfsTer44)
c.7657_7658insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro2553GlnfsTer44)
c.7543_7544insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro2515GlnfsTer44)
c.7378_7379insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro2460GlnfsTer44)
c.5527_5528insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro1843GlnfsTer44)
c.3217_3218insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA (p.Pro1073GlnfsTer44)
n.7916_7917insAGTGCCCTCGAGGGGCCTCCCATGCATTGTTGGTTGCTAGAGGATCAAGAGGCTTTACCCAATGGGCCCAGCACGTGGGCATGTGTGTGTA
18g.23915293C>ACA402058064LAMA3c.2822C>A (p.Pro941His)
c.7649C>A (p.Pro2550His)
c.4244C>A (p.Pro1415His)
c.7481C>A (p.Pro2494His)
c.2427C>A
c.2654C>A (p.Pro885His)
n.2227C>A
c.7676C>A (p.Pro2559His)
c.7667C>A (p.Pro2556His)
c.7658C>A (p.Pro2553His)
c.7544C>A (p.Pro2515His)
c.7379C>A (p.Pro2460His)
c.5528C>A (p.Pro1843His)
c.3218C>A (p.Pro1073His)
n.7917C>A
18g.23915293C>GCA402058056LAMA3c.2822C>G (p.Pro941Arg)
c.7649C>G (p.Pro2550Arg)
c.4244C>G (p.Pro1415Arg)
c.7481C>G (p.Pro2494Arg)
c.2427C>G
c.2654C>G (p.Pro885Arg)
n.2227C>G
c.7676C>G (p.Pro2559Arg)
c.7667C>G (p.Pro2556Arg)
c.7658C>G (p.Pro2553Arg)
c.7544C>G (p.Pro2515Arg)
c.7379C>G (p.Pro2460Arg)
c.5528C>G (p.Pro1843Arg)
c.3218C>G (p.Pro1073Arg)
n.7917C>G
18g.23915293C>TCA402058059LAMA3c.2822C>T (p.Pro941Leu)
c.7649C>T (p.Pro2550Leu)
c.4244C>T (p.Pro1415Leu)
c.7481C>T (p.Pro2494Leu)
c.2427C>T
c.2654C>T (p.Pro885Leu)
n.2227C>T
c.7676C>T (p.Pro2559Leu)
c.7667C>T (p.Pro2556Leu)
c.7658C>T (p.Pro2553Leu)
c.7544C>T (p.Pro2515Leu)
c.7379C>T (p.Pro2460Leu)
c.5528C>T (p.Pro1843Leu)
c.3218C>T (p.Pro1073Leu)
n.7917C>T
18g.23915294C>ACA503339190LAMA3c.2823C>A (p.Pro941=)
c.7650C>A (p.Pro2550=)
c.4245C>A (p.Pro1415=)
c.7482C>A (p.Pro2494=)
c.2428C>A
c.2655C>A (p.Pro885=)
n.2228C>A
c.7677C>A (p.Pro2559=)
c.7668C>A (p.Pro2556=)
c.7659C>A (p.Pro2553=)
c.7545C>A (p.Pro2515=)
c.7380C>A (p.Pro2460=)
c.5529C>A (p.Pro1843=)
c.3219C>A (p.Pro1073=)
n.7918C>A
 ClinVar dbSNP
18g.23915294C>GCA503339193LAMA3c.2823C>G (p.Pro941=)
c.7650C>G (p.Pro2550=)
c.4245C>G (p.Pro1415=)
c.7482C>G (p.Pro2494=)
c.2428C>G
c.2655C>G (p.Pro885=)
n.2228C>G
c.7677C>G (p.Pro2559=)
c.7668C>G (p.Pro2556=)
c.7659C>G (p.Pro2553=)
c.7545C>G (p.Pro2515=)
c.7380C>G (p.Pro2460=)
c.5529C>G (p.Pro1843=)
c.3219C>G (p.Pro1073=)
n.7918C>G
18g.23915294C>TCA503339192LAMA3c.2823C>T (p.Pro941=)
c.7650C>T (p.Pro2550=)
c.4245C>T (p.Pro1415=)
c.7482C>T (p.Pro2494=)
c.2428C>T
c.2655C>T (p.Pro885=)
n.2228C>T
c.7677C>T (p.Pro2559=)
c.7668C>T (p.Pro2556=)
c.7659C>T (p.Pro2553=)
c.7545C>T (p.Pro2515=)
c.7380C>T (p.Pro2460=)
c.5529C>T (p.Pro1843=)
c.3219C>T (p.Pro1073=)
n.7918C>T
18g.23915295A=CA2290328911LAMA3c.2824A= (p.Ser942=)
c.7651A= (p.Ser2551=)
c.4246A= (p.Ser1416=)
c.7483A= (p.Ser2495=)
c.2429A=
c.2656A= (p.Ser886=)
n.2229A=
c.7678A= (p.Ser2560=)
c.7669A= (p.Ser2557=)
c.7660A= (p.Ser2554=)
c.7546A= (p.Ser2516=)
c.7381A= (p.Ser2461=)
c.5530A= (p.Ser1844=)
c.3220A= (p.Ser1074=)
n.7919A=
18g.23915295A>CCA402058068LAMA3c.2824A>C (p.Ser942Arg)
c.7651A>C (p.Ser2551Arg)
c.4246A>C (p.Ser1416Arg)
c.7483A>C (p.Ser2495Arg)
c.2429A>C
c.2656A>C (p.Ser886Arg)
n.2229A>C
c.7678A>C (p.Ser2560Arg)
c.7669A>C (p.Ser2557Arg)
c.7660A>C (p.Ser2554Arg)
c.7546A>C (p.Ser2516Arg)
c.7381A>C (p.Ser2461Arg)
c.5530A>C (p.Ser1844Arg)
c.3220A>C (p.Ser1074Arg)
n.7919A>C
 dbSNP gnomAD v3 gnomAD v4
18g.23915295A>GCA402058071LAMA3c.2824A>G (p.Ser942Gly)
c.7651A>G (p.Ser2551Gly)
c.4246A>G (p.Ser1416Gly)
c.7483A>G (p.Ser2495Gly)
c.2429A>G
c.2656A>G (p.Ser886Gly)
n.2229A>G
c.7678A>G (p.Ser2560Gly)
c.7669A>G (p.Ser2557Gly)
c.7660A>G (p.Ser2554Gly)
c.7546A>G (p.Ser2516Gly)
c.7381A>G (p.Ser2461Gly)
c.5530A>G (p.Ser1844Gly)
c.3220A>G (p.Ser1074Gly)
n.7919A>G
18g.23915295A>TCA402058074LAMA3c.2824A>T (p.Ser942Cys)
c.7651A>T (p.Ser2551Cys)
c.4246A>T (p.Ser1416Cys)
c.7483A>T (p.Ser2495Cys)
c.2429A>T
c.2656A>T (p.Ser886Cys)
n.2229A>T
c.7678A>T (p.Ser2560Cys)
c.7669A>T (p.Ser2557Cys)
c.7660A>T (p.Ser2554Cys)
c.7546A>T (p.Ser2516Cys)
c.7381A>T (p.Ser2461Cys)
c.5530A>T (p.Ser1844Cys)
c.3220A>T (p.Ser1074Cys)
n.7919A>T
18g.23915296G>ACA402058077LAMA3c.2825G>A (p.Ser942Asn)
c.7652G>A (p.Ser2551Asn)
c.4247G>A (p.Ser1416Asn)
c.7484G>A (p.Ser2495Asn)
c.2430G>A
c.2657G>A (p.Ser886Asn)
n.2230G>A
c.7679G>A (p.Ser2560Asn)
c.7670G>A (p.Ser2557Asn)
c.7661G>A (p.Ser2554Asn)
c.7547G>A (p.Ser2516Asn)
c.7382G>A (p.Ser2461Asn)
c.5531G>A (p.Ser1844Asn)
c.3221G>A (p.Ser1074Asn)
n.7920G>A
18g.23915296G>CCA402058083LAMA3c.2825G>C (p.Ser942Thr)
c.7652G>C (p.Ser2551Thr)
c.4247G>C (p.Ser1416Thr)
c.7484G>C (p.Ser2495Thr)
c.2430G>C
c.2657G>C (p.Ser886Thr)
n.2230G>C
c.7679G>C (p.Ser2560Thr)
c.7670G>C (p.Ser2557Thr)
c.7661G>C (p.Ser2554Thr)
c.7547G>C (p.Ser2516Thr)
c.7382G>C (p.Ser2461Thr)
c.5531G>C (p.Ser1844Thr)
c.3221G>C (p.Ser1074Thr)
n.7920G>C
18g.23915296G>TCA402058085LAMA3c.2825G>T (p.Ser942Ile)
c.7652G>T (p.Ser2551Ile)
c.4247G>T (p.Ser1416Ile)
c.7484G>T (p.Ser2495Ile)
c.2430G>T
c.2657G>T (p.Ser886Ile)
n.2230G>T
c.7679G>T (p.Ser2560Ile)
c.7670G>T (p.Ser2557Ile)
c.7661G>T (p.Ser2554Ile)
c.7547G>T (p.Ser2516Ile)
c.7382G>T (p.Ser2461Ile)
c.5531G>T (p.Ser1844Ile)
c.3221G>T (p.Ser1074Ile)
n.7920G>T
18g.23915297T>ACA402058092LAMA3c.2826T>A (p.Ser942Arg)
c.7653T>A (p.Ser2551Arg)
c.4248T>A (p.Ser1416Arg)
c.7485T>A (p.Ser2495Arg)
c.2431T>A
c.2658T>A (p.Ser886Arg)
n.2231T>A
c.7680T>A (p.Ser2560Arg)
c.7671T>A (p.Ser2557Arg)
c.7662T>A (p.Ser2554Arg)
c.7548T>A (p.Ser2516Arg)
c.7383T>A (p.Ser2461Arg)
c.5532T>A (p.Ser1844Arg)
c.3222T>A (p.Ser1074Arg)
n.7921T>A
18g.23915297T>CCA503339203LAMA3c.2826T>C (p.Ser942=)
c.7653T>C (p.Ser2551=)
c.4248T>C (p.Ser1416=)
c.7485T>C (p.Ser2495=)
c.2431T>C
c.2658T>C (p.Ser886=)
n.2231T>C
c.7680T>C (p.Ser2560=)
c.7671T>C (p.Ser2557=)
c.7662T>C (p.Ser2554=)
c.7548T>C (p.Ser2516=)
c.7383T>C (p.Ser2461=)
c.5532T>C (p.Ser1844=)
c.3222T>C (p.Ser1074=)
n.7921T>C
18g.23915297T>GCA402058093LAMA3c.2826T>G (p.Ser942Arg)
c.7653T>G (p.Ser2551Arg)
c.4248T>G (p.Ser1416Arg)
c.7485T>G (p.Ser2495Arg)
c.2431T>G
c.2658T>G (p.Ser886Arg)
n.2231T>G
c.7680T>G (p.Ser2560Arg)
c.7671T>G (p.Ser2557Arg)
c.7662T>G (p.Ser2554Arg)
c.7548T>G (p.Ser2516Arg)
c.7383T>G (p.Ser2461Arg)
c.5532T>G (p.Ser1844Arg)
c.3222T>G (p.Ser1074Arg)
n.7921T>G
18g.23915298C>ACA503339207LAMA3c.2827C>A (p.Arg943=)
c.7654C>A (p.Arg2552=)
c.4249C>A (p.Arg1417=)
c.7486C>A (p.Arg2496=)
c.2432C>A
c.2659C>A (p.Arg887=)
n.2232C>A
c.7681C>A (p.Arg2561=)
c.7672C>A (p.Arg2558=)
c.7663C>A (p.Arg2555=)
c.7549C>A (p.Arg2517=)
c.7384C>A (p.Arg2462=)
c.5533C>A (p.Arg1845=)
c.3223C>A (p.Arg1075=)
n.7922C>A
 gnomAD v4
18g.23915298C=CA2290328913LAMA3c.2827C= (p.Arg943=)
c.7654C= (p.Arg2552=)
c.4249C= (p.Arg1417=)
c.7486C= (p.Arg2496=)
c.2432C=
c.2659C= (p.Arg887=)
n.2232C=
c.7681C= (p.Arg2561=)
c.7672C= (p.Arg2558=)
c.7663C= (p.Arg2555=)
c.7549C= (p.Arg2517=)
c.7384C= (p.Arg2462=)
c.5533C= (p.Arg1845=)
c.3223C= (p.Arg1075=)
n.7922C=
18g.23915298C>GCA402058097LAMA3c.2827C>G (p.Arg943Gly)
c.7654C>G (p.Arg2552Gly)
c.4249C>G (p.Arg1417Gly)
c.7486C>G (p.Arg2496Gly)
c.2432C>G
c.2659C>G (p.Arg887Gly)
n.2232C>G
c.7681C>G (p.Arg2561Gly)
c.7672C>G (p.Arg2558Gly)
c.7663C>G (p.Arg2555Gly)
c.7549C>G (p.Arg2517Gly)
c.7384C>G (p.Arg2462Gly)
c.5533C>G (p.Arg1845Gly)
c.3223C>G (p.Arg1075Gly)
n.7922C>G
 dbSNP gnomAD v2 gnomAD v4
18g.23915298C>TCA402058100LAMA3c.2827C>T (p.Arg943Ter)
c.7654C>T (p.Arg2552Ter)
c.4249C>T (p.Arg1417Ter)
c.7486C>T (p.Arg2496Ter)
c.2432C>T
c.2659C>T (p.Arg887Ter)
n.2232C>T
c.7681C>T (p.Arg2561Ter)
c.7672C>T (p.Arg2558Ter)
c.7663C>T (p.Arg2555Ter)
c.7549C>T (p.Arg2517Ter)
c.7384C>T (p.Arg2462Ter)
c.5533C>T (p.Arg1845Ter)
c.3223C>T (p.Arg1075Ter)
n.7922C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23915299G>ACA8916717LAMA3c.2828G>A (p.Arg943Gln)
c.7655G>A (p.Arg2552Gln)
c.4250G>A (p.Arg1417Gln)
c.7487G>A (p.Arg2496Gln)
c.2433G>A
c.2660G>A (p.Arg887Gln)
n.2233G>A
c.7682G>A (p.Arg2561Gln)
c.7673G>A (p.Arg2558Gln)
c.7664G>A (p.Arg2555Gln)
c.7550G>A (p.Arg2517Gln)
c.7385G>A (p.Arg2462Gln)
c.5534G>A (p.Arg1845Gln)
c.3224G>A (p.Arg1075Gln)
n.7923G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915299G>CCA402058106LAMA3c.2828G>C (p.Arg943Pro)
c.7655G>C (p.Arg2552Pro)
c.4250G>C (p.Arg1417Pro)
c.7487G>C (p.Arg2496Pro)
c.2433G>C
c.2660G>C (p.Arg887Pro)
n.2233G>C
c.7682G>C (p.Arg2561Pro)
c.7673G>C (p.Arg2558Pro)
c.7664G>C (p.Arg2555Pro)
c.7550G>C (p.Arg2517Pro)
c.7385G>C (p.Arg2462Pro)
c.5534G>C (p.Arg1845Pro)
c.3224G>C (p.Arg1075Pro)
n.7923G>C
18g.23915299G=CA2290328915LAMA3c.2828G= (p.Arg943=)
c.7655G= (p.Arg2552=)
c.4250G= (p.Arg1417=)
c.7487G= (p.Arg2496=)
c.2433G=
c.2660G= (p.Arg887=)
n.2233G=
c.7682G= (p.Arg2561=)
c.7673G= (p.Arg2558=)
c.7664G= (p.Arg2555=)
c.7550G= (p.Arg2517=)
c.7385G= (p.Arg2462=)
c.5534G= (p.Arg1845=)
c.3224G= (p.Arg1075=)
n.7923G=
18g.23915299G>TCA402058109LAMA3c.2828G>T (p.Arg943Leu)
c.7655G>T (p.Arg2552Leu)
c.4250G>T (p.Arg1417Leu)
c.7487G>T (p.Arg2496Leu)
c.2433G>T
c.2660G>T (p.Arg887Leu)
n.2233G>T
c.7682G>T (p.Arg2561Leu)
c.7673G>T (p.Arg2558Leu)
c.7664G>T (p.Arg2555Leu)
c.7550G>T (p.Arg2517Leu)
c.7385G>T (p.Arg2462Leu)
c.5534G>T (p.Arg1845Leu)
c.3224G>T (p.Arg1075Leu)
n.7923G>T
18g.23915300A>CCA503339214LAMA3c.2829A>C (p.Arg943=)
c.7656A>C (p.Arg2552=)
c.4251A>C (p.Arg1417=)
c.7488A>C (p.Arg2496=)
c.2434A>C
c.2661A>C (p.Arg887=)
n.2234A>C
c.7683A>C (p.Arg2561=)
c.7674A>C (p.Arg2558=)
c.7665A>C (p.Arg2555=)
c.7551A>C (p.Arg2517=)
c.7386A>C (p.Arg2462=)
c.5535A>C (p.Arg1845=)
c.3225A>C (p.Arg1075=)
n.7924A>C
18g.23915300A>GCA503339215LAMA3c.2829A>G (p.Arg943=)
c.7656A>G (p.Arg2552=)
c.4251A>G (p.Arg1417=)
c.7488A>G (p.Arg2496=)
c.2434A>G
c.2661A>G (p.Arg887=)
n.2234A>G
c.7683A>G (p.Arg2561=)
c.7674A>G (p.Arg2558=)
c.7665A>G (p.Arg2555=)
c.7551A>G (p.Arg2517=)
c.7386A>G (p.Arg2462=)
c.5535A>G (p.Arg1845=)
c.3225A>G (p.Arg1075=)
n.7924A>G
 ClinVar dbSNP
18g.23915300A>TCA503339218LAMA3c.2829A>T (p.Arg943=)
c.7656A>T (p.Arg2552=)
c.4251A>T (p.Arg1417=)
c.7488A>T (p.Arg2496=)
c.2434A>T
c.2661A>T (p.Arg887=)
n.2234A>T
c.7683A>T (p.Arg2561=)
c.7674A>T (p.Arg2558=)
c.7665A>T (p.Arg2555=)
c.7551A>T (p.Arg2517=)
c.7386A>T (p.Arg2462=)
c.5535A>T (p.Arg1845=)
c.3225A>T (p.Arg1075=)
n.7924A>T
18g.23915301C>ACA402058111LAMA3c.2830C>A (p.Leu944Ile)
c.7657C>A (p.Leu2553Ile)
c.4252C>A (p.Leu1418Ile)
c.7489C>A (p.Leu2497Ile)
c.2435C>A
c.2662C>A (p.Leu888Ile)
n.2235C>A
c.7684C>A (p.Leu2562Ile)
c.7675C>A (p.Leu2559Ile)
c.7666C>A (p.Leu2556Ile)
c.7552C>A (p.Leu2518Ile)
c.7387C>A (p.Leu2463Ile)
c.5536C>A (p.Leu1846Ile)
c.3226C>A (p.Leu1076Ile)
n.7925C>A
18g.23915301C=CA2290328918LAMA3c.2830C= (p.Leu944=)
c.7657C= (p.Leu2553=)
c.4252C= (p.Leu1418=)
c.7489C= (p.Leu2497=)
c.2435C=
c.2662C= (p.Leu888=)
n.2235C=
c.7684C= (p.Leu2562=)
c.7675C= (p.Leu2559=)
c.7666C= (p.Leu2556=)
c.7552C= (p.Leu2518=)
c.7387C= (p.Leu2463=)
c.5536C= (p.Leu1846=)
c.3226C= (p.Leu1076=)
n.7925C=
18g.23915301C>GCA242133LAMA3c.2830C>G (p.Leu944Val)
c.7657C>G (p.Leu2553Val)
c.4252C>G (p.Leu1418Val)
c.7489C>G (p.Leu2497Val)
c.2435C>G
c.2662C>G (p.Leu888Val)
n.2235C>G
c.7684C>G (p.Leu2562Val)
c.7675C>G (p.Leu2559Val)
c.7666C>G (p.Leu2556Val)
c.7552C>G (p.Leu2518Val)
c.7387C>G (p.Leu2463Val)
c.5536C>G (p.Leu1846Val)
c.3226C>G (p.Leu1076Val)
n.7925C>G
 ClinVar dbSNP
18g.23915301C>TCA503339223LAMA3c.2830C>T (p.Leu944=)
c.7657C>T (p.Leu2553=)
c.4252C>T (p.Leu1418=)
c.7489C>T (p.Leu2497=)
c.2435C>T
c.2662C>T (p.Leu888=)
n.2235C>T
c.7684C>T (p.Leu2562=)
c.7675C>T (p.Leu2559=)
c.7666C>T (p.Leu2556=)
c.7552C>T (p.Leu2518=)
c.7387C>T (p.Leu2463=)
c.5536C>T (p.Leu1846=)
c.3226C>T (p.Leu1076=)
n.7925C>T
18g.23915302T>ACA402058115LAMA3c.2831T>A (p.Leu944Gln)
c.7658T>A (p.Leu2553Gln)
c.4253T>A (p.Leu1418Gln)
c.7490T>A (p.Leu2497Gln)
c.2436T>A
c.2663T>A (p.Leu888Gln)
n.2236T>A
c.7685T>A (p.Leu2562Gln)
c.7676T>A (p.Leu2559Gln)
c.7667T>A (p.Leu2556Gln)
c.7553T>A (p.Leu2518Gln)
c.7388T>A (p.Leu2463Gln)
c.5537T>A (p.Leu1846Gln)
c.3227T>A (p.Leu1076Gln)
n.7926T>A
18g.23915302T>CCA8916718LAMA3c.2831T>C (p.Leu944Pro)
c.7658T>C (p.Leu2553Pro)
c.4253T>C (p.Leu1418Pro)
c.7490T>C (p.Leu2497Pro)
c.2436T>C
c.2663T>C (p.Leu888Pro)
n.2236T>C
c.7685T>C (p.Leu2562Pro)
c.7676T>C (p.Leu2559Pro)
c.7667T>C (p.Leu2556Pro)
c.7553T>C (p.Leu2518Pro)
c.7388T>C (p.Leu2463Pro)
c.5537T>C (p.Leu1846Pro)
c.3227T>C (p.Leu1076Pro)
n.7926T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915302T>GCA402058118LAMA3c.2831T>G (p.Leu944Arg)
c.7658T>G (p.Leu2553Arg)
c.4253T>G (p.Leu1418Arg)
c.7490T>G (p.Leu2497Arg)
c.2436T>G
c.2663T>G (p.Leu888Arg)
n.2236T>G
c.7685T>G (p.Leu2562Arg)
c.7676T>G (p.Leu2559Arg)
c.7667T>G (p.Leu2556Arg)
c.7553T>G (p.Leu2518Arg)
c.7388T>G (p.Leu2463Arg)
c.5537T>G (p.Leu1846Arg)
c.3227T>G (p.Leu1076Arg)
n.7926T>G
18g.23915302T=CA2290328920LAMA3c.2831T= (p.Leu944=)
c.7658T= (p.Leu2553=)
c.4253T= (p.Leu1418=)
c.7490T= (p.Leu2497=)
c.2436T=
c.2663T= (p.Leu888=)
n.2236T=
c.7685T= (p.Leu2562=)
c.7676T= (p.Leu2559=)
c.7667T= (p.Leu2556=)
c.7553T= (p.Leu2518=)
c.7388T= (p.Leu2463=)
c.5537T= (p.Leu1846=)
c.3227T= (p.Leu1076=)
n.7926T=
18g.23915302dupCA777728800LAMA3c.2831dup (p.Ser945LysfsTer10)
c.7658dup (p.Ser2554LysfsTer10)
c.4253dup (p.Ser1419LysfsTer10)
c.7490dup (p.Ser2498LysfsTer10)
c.2436dup
c.2663dup (p.Ser889LysfsTer10)
n.2236dup
c.7685dup (p.Ser2563LysfsTer10)
c.7676dup (p.Ser2560LysfsTer10)
c.7667dup (p.Ser2557LysfsTer10)
c.7553dup (p.Ser2519LysfsTer10)
c.7388dup (p.Ser2464LysfsTer10)
c.5537dup (p.Ser1847LysfsTer10)
c.3227dup (p.Ser1077LysfsTer10)
n.7926dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23915302_23915303delCA2695227280LAMA3c.2831_2832del (p.Leu944GlnfsTer10)
c.7658_7659del (p.Leu2553GlnfsTer10)
c.4253_4254del (p.Leu1418GlnfsTer10)
c.7490_7491del (p.Leu2497GlnfsTer10)
c.2436_2437del
c.2663_2664del (p.Leu888GlnfsTer10)
n.2236_2237del
c.7685_7686del (p.Leu2562GlnfsTer10)
c.7676_7677del (p.Leu2559GlnfsTer10)
c.7667_7668del (p.Leu2556GlnfsTer10)
c.7553_7554del (p.Leu2518GlnfsTer10)
c.7388_7389del (p.Leu2463GlnfsTer10)
c.5537_5538del (p.Leu1846GlnfsTer10)
c.3227_3228del (p.Leu1076GlnfsTer10)
n.7926_7927del
 ClinVar
18g.23915303A>CCA503339231LAMA3c.2832A>C (p.Leu944=)
c.7659A>C (p.Leu2553=)
c.4254A>C (p.Leu1418=)
c.7491A>C (p.Leu2497=)
c.2437A>C
c.2664A>C (p.Leu888=)
n.2237A>C
c.7686A>C (p.Leu2562=)
c.7677A>C (p.Leu2559=)
c.7668A>C (p.Leu2556=)
c.7554A>C (p.Leu2518=)
c.7389A>C (p.Leu2463=)
c.5538A>C (p.Leu1846=)
c.3228A>C (p.Leu1076=)
n.7927A>C
18g.23915303A>GCA503339229LAMA3c.2832A>G (p.Leu944=)
c.7659A>G (p.Leu2553=)
c.4254A>G (p.Leu1418=)
c.7491A>G (p.Leu2497=)
c.2437A>G
c.2664A>G (p.Leu888=)
n.2237A>G
c.7686A>G (p.Leu2562=)
c.7677A>G (p.Leu2559=)
c.7668A>G (p.Leu2556=)
c.7554A>G (p.Leu2518=)
c.7389A>G (p.Leu2463=)
c.5538A>G (p.Leu1846=)
c.3228A>G (p.Leu1076=)
n.7927A>G
 ClinVar
18g.23915303A>TCA503339228LAMA3c.2832A>T (p.Leu944=)
c.7659A>T (p.Leu2553=)
c.4254A>T (p.Leu1418=)
c.7491A>T (p.Leu2497=)
c.2437A>T
c.2664A>T (p.Leu888=)
n.2237A>T
c.7686A>T (p.Leu2562=)
c.7677A>T (p.Leu2559=)
c.7668A>T (p.Leu2556=)
c.7554A>T (p.Leu2518=)
c.7389A>T (p.Leu2463=)
c.5538A>T (p.Leu1846=)
c.3228A>T (p.Leu1076=)
n.7927A>T
 ClinVar dbSNP
18g.23915304A>CCA402058122LAMA3c.2833A>C (p.Ser945Arg)
c.7660A>C (p.Ser2554Arg)
c.4255A>C (p.Ser1419Arg)
c.7492A>C (p.Ser2498Arg)
c.2438A>C
c.2665A>C (p.Ser889Arg)
n.2238A>C
c.7687A>C (p.Ser2563Arg)
c.7678A>C (p.Ser2560Arg)
c.7669A>C (p.Ser2557Arg)
c.7555A>C (p.Ser2519Arg)
c.7390A>C (p.Ser2464Arg)
c.5539A>C (p.Ser1847Arg)
c.3229A>C (p.Ser1077Arg)
n.7928A>C
18g.23915304A>GCA402058123LAMA3c.2833A>G (p.Ser945Gly)
c.7660A>G (p.Ser2554Gly)
c.4255A>G (p.Ser1419Gly)
c.7492A>G (p.Ser2498Gly)
c.2438A>G
c.2665A>G (p.Ser889Gly)
n.2238A>G
c.7687A>G (p.Ser2563Gly)
c.7678A>G (p.Ser2560Gly)
c.7669A>G (p.Ser2557Gly)
c.7555A>G (p.Ser2519Gly)
c.7390A>G (p.Ser2464Gly)
c.5539A>G (p.Ser1847Gly)
c.3229A>G (p.Ser1077Gly)
n.7928A>G
18g.23915304A>TCA402058126LAMA3c.2833A>T (p.Ser945Cys)
c.7660A>T (p.Ser2554Cys)
c.4255A>T (p.Ser1419Cys)
c.7492A>T (p.Ser2498Cys)
c.2438A>T
c.2665A>T (p.Ser889Cys)
n.2238A>T
c.7687A>T (p.Ser2563Cys)
c.7678A>T (p.Ser2560Cys)
c.7669A>T (p.Ser2557Cys)
c.7555A>T (p.Ser2519Cys)
c.7390A>T (p.Ser2464Cys)
c.5539A>T (p.Ser1847Cys)
c.3229A>T (p.Ser1077Cys)
n.7928A>T
18g.23915305G>ACA402058132LAMA3c.2834G>A (p.Ser945Asn)
c.7661G>A (p.Ser2554Asn)
c.4256G>A (p.Ser1419Asn)
c.7493G>A (p.Ser2498Asn)
c.2439G>A
c.2666G>A (p.Ser889Asn)
n.2239G>A
c.7688G>A (p.Ser2563Asn)
c.7679G>A (p.Ser2560Asn)
c.7670G>A (p.Ser2557Asn)
c.7556G>A (p.Ser2519Asn)
c.7391G>A (p.Ser2464Asn)
c.5540G>A (p.Ser1847Asn)
c.3230G>A (p.Ser1077Asn)
n.7929G>A
 dbSNP
18g.23915305G>CCA8916719LAMA3c.2834G>C (p.Ser945Thr)
c.7661G>C (p.Ser2554Thr)
c.4256G>C (p.Ser1419Thr)
c.7493G>C (p.Ser2498Thr)
c.2439G>C
c.2666G>C (p.Ser889Thr)
n.2239G>C
c.7688G>C (p.Ser2563Thr)
c.7679G>C (p.Ser2560Thr)
c.7670G>C (p.Ser2557Thr)
c.7556G>C (p.Ser2519Thr)
c.7391G>C (p.Ser2464Thr)
c.5540G>C (p.Ser1847Thr)
c.3230G>C (p.Ser1077Thr)
n.7929G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915305G=CA2290328923LAMA3c.2834G= (p.Ser945=)
c.7661G= (p.Ser2554=)
c.4256G= (p.Ser1419=)
c.7493G= (p.Ser2498=)
c.2439G=
c.2666G= (p.Ser889=)
n.2239G=
c.7688G= (p.Ser2563=)
c.7679G= (p.Ser2560=)
c.7670G= (p.Ser2557=)
c.7556G= (p.Ser2519=)
c.7391G= (p.Ser2464=)
c.5540G= (p.Ser1847=)
c.3230G= (p.Ser1077=)
n.7929G=
18g.23915305G>TCA402058129LAMA3c.2834G>T (p.Ser945Ile)
c.7661G>T (p.Ser2554Ile)
c.4256G>T (p.Ser1419Ile)
c.7493G>T (p.Ser2498Ile)
c.2439G>T
c.2666G>T (p.Ser889Ile)
n.2239G>T
c.7688G>T (p.Ser2563Ile)
c.7679G>T (p.Ser2560Ile)
c.7670G>T (p.Ser2557Ile)
c.7556G>T (p.Ser2519Ile)
c.7391G>T (p.Ser2464Ile)
c.5540G>T (p.Ser1847Ile)
c.3230G>T (p.Ser1077Ile)
n.7929G>T
18g.23915306T>ACA402058135LAMA3c.2835T>A (p.Ser945Arg)
c.7662T>A (p.Ser2554Arg)
c.4257T>A (p.Ser1419Arg)
c.7494T>A (p.Ser2498Arg)
c.2440T>A
c.2667T>A (p.Ser889Arg)
n.2240T>A
c.7689T>A (p.Ser2563Arg)
c.7680T>A (p.Ser2560Arg)
c.7671T>A (p.Ser2557Arg)
c.7557T>A (p.Ser2519Arg)
c.7392T>A (p.Ser2464Arg)
c.5541T>A (p.Ser1847Arg)
c.3231T>A (p.Ser1077Arg)
n.7930T>A
18g.23915306T>CCA503339241LAMA3c.2835T>C (p.Ser945=)
c.7662T>C (p.Ser2554=)
c.4257T>C (p.Ser1419=)
c.7494T>C (p.Ser2498=)
c.2440T>C
c.2667T>C (p.Ser889=)
n.2240T>C
c.7689T>C (p.Ser2563=)
c.7680T>C (p.Ser2560=)
c.7671T>C (p.Ser2557=)
c.7557T>C (p.Ser2519=)
c.7392T>C (p.Ser2464=)
c.5541T>C (p.Ser1847=)
c.3231T>C (p.Ser1077=)
n.7930T>C
18g.23915306T>GCA402058139LAMA3c.2835T>G (p.Ser945Arg)
c.7662T>G (p.Ser2554Arg)
c.4257T>G (p.Ser1419Arg)
c.7494T>G (p.Ser2498Arg)
c.2440T>G
c.2667T>G (p.Ser889Arg)
n.2240T>G
c.7689T>G (p.Ser2563Arg)
c.7680T>G (p.Ser2560Arg)
c.7671T>G (p.Ser2557Arg)
c.7557T>G (p.Ser2519Arg)
c.7392T>G (p.Ser2464Arg)
c.5541T>G (p.Ser1847Arg)
c.3231T>G (p.Ser1077Arg)
n.7930T>G
18g.23915307T>ACA402058142LAMA3c.2836T>A (p.Phe946Ile)
c.7663T>A (p.Phe2555Ile)
c.4258T>A (p.Phe1420Ile)
c.7495T>A (p.Phe2499Ile)
c.2441T>A
c.2668T>A (p.Phe890Ile)
n.2241T>A
c.7690T>A (p.Phe2564Ile)
c.7681T>A (p.Phe2561Ile)
c.7672T>A (p.Phe2558Ile)
c.7558T>A (p.Phe2520Ile)
c.7393T>A (p.Phe2465Ile)
c.5542T>A (p.Phe1848Ile)
c.3232T>A (p.Phe1078Ile)
n.7931T>A
18g.23915307T>CCA402058143LAMA3c.2836T>C (p.Phe946Leu)
c.7663T>C (p.Phe2555Leu)
c.4258T>C (p.Phe1420Leu)
c.7495T>C (p.Phe2499Leu)
c.2441T>C
c.2668T>C (p.Phe890Leu)
n.2241T>C
c.7690T>C (p.Phe2564Leu)
c.7681T>C (p.Phe2561Leu)
c.7672T>C (p.Phe2558Leu)
c.7558T>C (p.Phe2520Leu)
c.7393T>C (p.Phe2465Leu)
c.5542T>C (p.Phe1848Leu)
c.3232T>C (p.Phe1078Leu)
n.7931T>C
18g.23915307T>GCA402058144LAMA3c.2836T>G (p.Phe946Val)
c.7663T>G (p.Phe2555Val)
c.4258T>G (p.Phe1420Val)
c.7495T>G (p.Phe2499Val)
c.2441T>G
c.2668T>G (p.Phe890Val)
n.2241T>G
c.7690T>G (p.Phe2564Val)
c.7681T>G (p.Phe2561Val)
c.7672T>G (p.Phe2558Val)
c.7558T>G (p.Phe2520Val)
c.7393T>G (p.Phe2465Val)
c.5542T>G (p.Phe1848Val)
c.3232T>G (p.Phe1078Val)
n.7931T>G
18g.23915308T>ACA402058146LAMA3c.2837T>A (p.Phe946Tyr)
c.7664T>A (p.Phe2555Tyr)
c.4259T>A (p.Phe1420Tyr)
c.7496T>A (p.Phe2499Tyr)
c.2442T>A
c.2669T>A (p.Phe890Tyr)
n.2242T>A
c.7691T>A (p.Phe2564Tyr)
c.7682T>A (p.Phe2561Tyr)
c.7673T>A (p.Phe2558Tyr)
c.7559T>A (p.Phe2520Tyr)
c.7394T>A (p.Phe2465Tyr)
c.5543T>A (p.Phe1848Tyr)
c.3233T>A (p.Phe1078Tyr)
n.7932T>A
18g.23915308T>CCA402058151LAMA3c.2837T>C (p.Phe946Ser)
c.7664T>C (p.Phe2555Ser)
c.4259T>C (p.Phe1420Ser)
c.7496T>C (p.Phe2499Ser)
c.2442T>C
c.2669T>C (p.Phe890Ser)
n.2242T>C
c.7691T>C (p.Phe2564Ser)
c.7682T>C (p.Phe2561Ser)
c.7673T>C (p.Phe2558Ser)
c.7559T>C (p.Phe2520Ser)
c.7394T>C (p.Phe2465Ser)
c.5543T>C (p.Phe1848Ser)
c.3233T>C (p.Phe1078Ser)
n.7932T>C
18g.23915308T>GCA402058148LAMA3c.2837T>G (p.Phe946Cys)
c.7664T>G (p.Phe2555Cys)
c.4259T>G (p.Phe1420Cys)
c.7496T>G (p.Phe2499Cys)
c.2442T>G
c.2669T>G (p.Phe890Cys)
n.2242T>G
c.7691T>G (p.Phe2564Cys)
c.7682T>G (p.Phe2561Cys)
c.7673T>G (p.Phe2558Cys)
c.7559T>G (p.Phe2520Cys)
c.7394T>G (p.Phe2465Cys)
c.5543T>G (p.Phe1848Cys)
c.3233T>G (p.Phe1078Cys)
n.7932T>G
18g.23915309C>ACA402058153LAMA3c.2838C>A (p.Phe946Leu)
c.7665C>A (p.Phe2555Leu)
c.4260C>A (p.Phe1420Leu)
c.7497C>A (p.Phe2499Leu)
c.2443C>A
c.2670C>A (p.Phe890Leu)
n.2243C>A
c.7692C>A (p.Phe2564Leu)
c.7683C>A (p.Phe2561Leu)
c.7674C>A (p.Phe2558Leu)
c.7560C>A (p.Phe2520Leu)
c.7395C>A (p.Phe2465Leu)
c.5544C>A (p.Phe1848Leu)
c.3234C>A (p.Phe1078Leu)
n.7933C>A
18g.23915309C>GCA402058155LAMA3c.2838C>G (p.Phe946Leu)
c.7665C>G (p.Phe2555Leu)
c.4260C>G (p.Phe1420Leu)
c.7497C>G (p.Phe2499Leu)
c.2443C>G
c.2670C>G (p.Phe890Leu)
n.2243C>G
c.7692C>G (p.Phe2564Leu)
c.7683C>G (p.Phe2561Leu)
c.7674C>G (p.Phe2558Leu)
c.7560C>G (p.Phe2520Leu)
c.7395C>G (p.Phe2465Leu)
c.5544C>G (p.Phe1848Leu)
c.3234C>G (p.Phe1078Leu)
n.7933C>G
18g.23915309C>TCA503339251LAMA3c.2838C>T (p.Phe946=)
c.7665C>T (p.Phe2555=)
c.4260C>T (p.Phe1420=)
c.7497C>T (p.Phe2499=)
c.2443C>T
c.2670C>T (p.Phe890=)
n.2243C>T
c.7692C>T (p.Phe2564=)
c.7683C>T (p.Phe2561=)
c.7674C>T (p.Phe2558=)
c.7560C>T (p.Phe2520=)
c.7395C>T (p.Phe2465=)
c.5544C>T (p.Phe1848=)
c.3234C>T (p.Phe1078=)
n.7933C>T
 COSMIC COSMIC
18g.23915310C>ACA402058158LAMA3c.2839C>A (p.Pro947Thr)
c.7666C>A (p.Pro2556Thr)
c.4261C>A (p.Pro1421Thr)
c.7498C>A (p.Pro2500Thr)
c.2444C>A
c.2671C>A (p.Pro891Thr)
n.2244C>A
c.7693C>A (p.Pro2565Thr)
c.7684C>A (p.Pro2562Thr)
c.7675C>A (p.Pro2559Thr)
c.7561C>A (p.Pro2521Thr)
c.7396C>A (p.Pro2466Thr)
c.5545C>A (p.Pro1849Thr)
c.3235C>A (p.Pro1079Thr)
n.7934C>A
18g.23915310C=CA2290328925LAMA3c.2839C= (p.Pro947=)
c.7666C= (p.Pro2556=)
c.4261C= (p.Pro1421=)
c.7498C= (p.Pro2500=)
c.2444C=
c.2671C= (p.Pro891=)
n.2244C=
c.7693C= (p.Pro2565=)
c.7684C= (p.Pro2562=)
c.7675C= (p.Pro2559=)
c.7561C= (p.Pro2521=)
c.7396C= (p.Pro2466=)
c.5545C= (p.Pro1849=)
c.3235C= (p.Pro1079=)
n.7934C=
18g.23915310C>GCA402058160LAMA3c.2839C>G (p.Pro947Ala)
c.7666C>G (p.Pro2556Ala)
c.4261C>G (p.Pro1421Ala)
c.7498C>G (p.Pro2500Ala)
c.2444C>G
c.2671C>G (p.Pro891Ala)
n.2244C>G
c.7693C>G (p.Pro2565Ala)
c.7684C>G (p.Pro2562Ala)
c.7675C>G (p.Pro2559Ala)
c.7561C>G (p.Pro2521Ala)
c.7396C>G (p.Pro2466Ala)
c.5545C>G (p.Pro1849Ala)
c.3235C>G (p.Pro1079Ala)
n.7934C>G
 dbSNP gnomAD v4
18g.23915310C>TCA402058161LAMA3c.2839C>T (p.Pro947Ser)
c.7666C>T (p.Pro2556Ser)
c.4261C>T (p.Pro1421Ser)
c.7498C>T (p.Pro2500Ser)
c.2444C>T
c.2671C>T (p.Pro891Ser)
n.2244C>T
c.7693C>T (p.Pro2565Ser)
c.7684C>T (p.Pro2562Ser)
c.7675C>T (p.Pro2559Ser)
c.7561C>T (p.Pro2521Ser)
c.7396C>T (p.Pro2466Ser)
c.5545C>T (p.Pro1849Ser)
c.3235C>T (p.Pro1079Ser)
n.7934C>T
18g.23915311C>ACA402058162LAMA3c.2840C>A (p.Pro947His)
c.7667C>A (p.Pro2556His)
c.4262C>A (p.Pro1421His)
c.7499C>A (p.Pro2500His)
c.2445C>A
c.2672C>A (p.Pro891His)
n.2245C>A
c.7694C>A (p.Pro2565His)
c.7685C>A (p.Pro2562His)
c.7676C>A (p.Pro2559His)
c.7562C>A (p.Pro2521His)
c.7397C>A (p.Pro2466His)
c.5546C>A (p.Pro1849His)
c.3236C>A (p.Pro1079His)
n.7935C>A
 gnomAD v4
18g.23915311C>GCA402058163LAMA3c.2840C>G (p.Pro947Arg)
c.7667C>G (p.Pro2556Arg)
c.4262C>G (p.Pro1421Arg)
c.7499C>G (p.Pro2500Arg)
c.2445C>G
c.2672C>G (p.Pro891Arg)
n.2245C>G
c.7694C>G (p.Pro2565Arg)
c.7685C>G (p.Pro2562Arg)
c.7676C>G (p.Pro2559Arg)
c.7562C>G (p.Pro2521Arg)
c.7397C>G (p.Pro2466Arg)
c.5546C>G (p.Pro1849Arg)
c.3236C>G (p.Pro1079Arg)
n.7935C>G
18g.23915311C>TCA402058165LAMA3c.2840C>T (p.Pro947Leu)
c.7667C>T (p.Pro2556Leu)
c.4262C>T (p.Pro1421Leu)
c.7499C>T (p.Pro2500Leu)
c.2445C>T
c.2672C>T (p.Pro891Leu)
n.2245C>T
c.7694C>T (p.Pro2565Leu)
c.7685C>T (p.Pro2562Leu)
c.7676C>T (p.Pro2559Leu)
c.7562C>T (p.Pro2521Leu)
c.7397C>T (p.Pro2466Leu)
c.5546C>T (p.Pro1849Leu)
c.3236C>T (p.Pro1079Leu)
n.7935C>T
18g.23915312T>ACA503339261LAMA3c.2841T>A (p.Pro947=)
c.7668T>A (p.Pro2556=)
c.4263T>A (p.Pro1421=)
c.7500T>A (p.Pro2500=)
c.2446T>A
c.2673T>A (p.Pro891=)
n.2246T>A
c.7695T>A (p.Pro2565=)
c.7686T>A (p.Pro2562=)
c.7677T>A (p.Pro2559=)
c.7563T>A (p.Pro2521=)
c.7398T>A (p.Pro2466=)
c.5547T>A (p.Pro1849=)
c.3237T>A (p.Pro1079=)
n.7936T>A
18g.23915312T>CCA503339262LAMA3c.2841T>C (p.Pro947=)
c.7668T>C (p.Pro2556=)
c.4263T>C (p.Pro1421=)
c.7500T>C (p.Pro2500=)
c.2446T>C
c.2673T>C (p.Pro891=)
n.2246T>C
c.7695T>C (p.Pro2565=)
c.7686T>C (p.Pro2562=)
c.7677T>C (p.Pro2559=)
c.7563T>C (p.Pro2521=)
c.7398T>C (p.Pro2466=)
c.5547T>C (p.Pro1849=)
c.3237T>C (p.Pro1079=)
n.7936T>C
 ClinVar
18g.23915312T>GCA503339264LAMA3c.2841T>G (p.Pro947=)
c.7668T>G (p.Pro2556=)
c.4263T>G (p.Pro1421=)
c.7500T>G (p.Pro2500=)
c.2446T>G
c.2673T>G (p.Pro891=)
n.2246T>G
c.7695T>G (p.Pro2565=)
c.7686T>G (p.Pro2562=)
c.7677T>G (p.Pro2559=)
c.7563T>G (p.Pro2521=)
c.7398T>G (p.Pro2466=)
c.5547T>G (p.Pro1849=)
c.3237T>G (p.Pro1079=)
n.7936T>G
18g.23915313C>ACA402058167LAMA3c.2842C>A (p.Pro948Thr)
c.7669C>A (p.Pro2557Thr)
c.4264C>A (p.Pro1422Thr)
c.7501C>A (p.Pro2501Thr)
c.2447C>A
c.2674C>A (p.Pro892Thr)
n.2247C>A
c.7696C>A (p.Pro2566Thr)
c.7687C>A (p.Pro2563Thr)
c.7678C>A (p.Pro2560Thr)
c.7564C>A (p.Pro2522Thr)
c.7399C>A (p.Pro2467Thr)
c.5548C>A (p.Pro1850Thr)
c.3238C>A (p.Pro1080Thr)
n.7937C>A
18g.23915313C=CA2290328926LAMA3c.2842C= (p.Pro948=)
c.7669C= (p.Pro2557=)
c.4264C= (p.Pro1422=)
c.7501C= (p.Pro2501=)
c.2447C=
c.2674C= (p.Pro892=)
n.2247C=
c.7696C= (p.Pro2566=)
c.7687C= (p.Pro2563=)
c.7678C= (p.Pro2560=)
c.7564C= (p.Pro2522=)
c.7399C= (p.Pro2467=)
c.5548C= (p.Pro1850=)
c.3238C= (p.Pro1080=)
n.7937C=
18g.23915313C>GCA402058169LAMA3c.2842C>G (p.Pro948Ala)
c.7669C>G (p.Pro2557Ala)
c.4264C>G (p.Pro1422Ala)
c.7501C>G (p.Pro2501Ala)
c.2447C>G
c.2674C>G (p.Pro892Ala)
n.2247C>G
c.7696C>G (p.Pro2566Ala)
c.7687C>G (p.Pro2563Ala)
c.7678C>G (p.Pro2560Ala)
c.7564C>G (p.Pro2522Ala)
c.7399C>G (p.Pro2467Ala)
c.5548C>G (p.Pro1850Ala)
c.3238C>G (p.Pro1080Ala)
n.7937C>G
 dbSNP
18g.23915313C>TCA402058171LAMA3c.2842C>T (p.Pro948Ser)
c.7669C>T (p.Pro2557Ser)
c.4264C>T (p.Pro1422Ser)
c.7501C>T (p.Pro2501Ser)
c.2447C>T
c.2674C>T (p.Pro892Ser)
n.2247C>T
c.7696C>T (p.Pro2566Ser)
c.7687C>T (p.Pro2563Ser)
c.7678C>T (p.Pro2560Ser)
c.7564C>T (p.Pro2522Ser)
c.7399C>T (p.Pro2467Ser)
c.5548C>T (p.Pro1850Ser)
c.3238C>T (p.Pro1080Ser)
n.7937C>T
 gnomAD v4
18g.23915314C>ACA402058173LAMA3c.2843C>A (p.Pro948Gln)
c.7670C>A (p.Pro2557Gln)
c.4265C>A (p.Pro1422Gln)
c.7502C>A (p.Pro2501Gln)
c.2448C>A
c.2675C>A (p.Pro892Gln)
n.2248C>A
c.7697C>A (p.Pro2566Gln)
c.7688C>A (p.Pro2563Gln)
c.7679C>A (p.Pro2560Gln)
c.7565C>A (p.Pro2522Gln)
c.7400C>A (p.Pro2467Gln)
c.5549C>A (p.Pro1850Gln)
c.3239C>A (p.Pro1080Gln)
n.7938C>A
18g.23915314C=CA2290328928LAMA3c.2843C= (p.Pro948=)
c.7670C= (p.Pro2557=)
c.4265C= (p.Pro1422=)
c.7502C= (p.Pro2501=)
c.2448C=
c.2675C= (p.Pro892=)
n.2248C=
c.7697C= (p.Pro2566=)
c.7688C= (p.Pro2563=)
c.7679C= (p.Pro2560=)
c.7565C= (p.Pro2522=)
c.7400C= (p.Pro2467=)
c.5549C= (p.Pro1850=)
c.3239C= (p.Pro1080=)
n.7938C=
18g.23915314C>GCA402058178LAMA3c.2843C>G (p.Pro948Arg)
c.7670C>G (p.Pro2557Arg)
c.4265C>G (p.Pro1422Arg)
c.7502C>G (p.Pro2501Arg)
c.2448C>G
c.2675C>G (p.Pro892Arg)
n.2248C>G
c.7697C>G (p.Pro2566Arg)
c.7688C>G (p.Pro2563Arg)
c.7679C>G (p.Pro2560Arg)
c.7565C>G (p.Pro2522Arg)
c.7400C>G (p.Pro2467Arg)
c.5549C>G (p.Pro1850Arg)
c.3239C>G (p.Pro1080Arg)
n.7938C>G
18g.23915314C>TCA402058175LAMA3c.2843C>T (p.Pro948Leu)
c.7670C>T (p.Pro2557Leu)
c.4265C>T (p.Pro1422Leu)
c.7502C>T (p.Pro2501Leu)
c.2448C>T
c.2675C>T (p.Pro892Leu)
n.2248C>T
c.7697C>T (p.Pro2566Leu)
c.7688C>T (p.Pro2563Leu)
c.7679C>T (p.Pro2560Leu)
c.7565C>T (p.Pro2522Leu)
c.7400C>T (p.Pro2467Leu)
c.5549C>T (p.Pro1850Leu)
c.3239C>T (p.Pro1080Leu)
n.7938C>T
 dbSNP gnomAD v4
18g.23915315A=CA2290328930LAMA3c.2844A= (p.Pro948=)
c.7671A= (p.Pro2557=)
c.4266A= (p.Pro1422=)
c.7503A= (p.Pro2501=)
c.2449A=
c.2676A= (p.Pro892=)
n.2249A=
c.7698A= (p.Pro2566=)
c.7689A= (p.Pro2563=)
c.7680A= (p.Pro2560=)
c.7566A= (p.Pro2522=)
c.7401A= (p.Pro2467=)
c.5550A= (p.Pro1850=)
c.3240A= (p.Pro1080=)
n.7939A=
18g.23915315A>CCA8916720LAMA3c.2844A>C (p.Pro948=)
c.7671A>C (p.Pro2557=)
c.4266A>C (p.Pro1422=)
c.7503A>C (p.Pro2501=)
c.2449A>C
c.2676A>C (p.Pro892=)
n.2249A>C
c.7698A>C (p.Pro2566=)
c.7689A>C (p.Pro2563=)
c.7680A>C (p.Pro2560=)
c.7566A>C (p.Pro2522=)
c.7401A>C (p.Pro2467=)
c.5550A>C (p.Pro1850=)
c.3240A>C (p.Pro1080=)
n.7939A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915315A>GCA297109583LAMA3c.2844A>G (p.Pro948=)
c.7671A>G (p.Pro2557=)
c.4266A>G (p.Pro1422=)
c.7503A>G (p.Pro2501=)
c.2449A>G
c.2676A>G (p.Pro892=)
n.2249A>G
c.7698A>G (p.Pro2566=)
c.7689A>G (p.Pro2563=)
c.7680A>G (p.Pro2560=)
c.7566A>G (p.Pro2522=)
c.7401A>G (p.Pro2467=)
c.5550A>G (p.Pro1850=)
c.3240A>G (p.Pro1080=)
n.7939A>G
 ClinVar dbSNP
18g.23915315A>TCA503339275LAMA3c.2844A>T (p.Pro948=)
c.7671A>T (p.Pro2557=)
c.4266A>T (p.Pro1422=)
c.7503A>T (p.Pro2501=)
c.2449A>T
c.2676A>T (p.Pro892=)
n.2249A>T
c.7698A>T (p.Pro2566=)
c.7689A>T (p.Pro2563=)
c.7680A>T (p.Pro2560=)
c.7566A>T (p.Pro2522=)
c.7401A>T (p.Pro2467=)
c.5550A>T (p.Pro1850=)
c.3240A>T (p.Pro1080=)
n.7939A>T
18g.23915316T>ACA402058186LAMA3c.2845T>A (p.Tyr949Asn)
c.7672T>A (p.Tyr2558Asn)
c.4267T>A (p.Tyr1423Asn)
c.7504T>A (p.Tyr2502Asn)
c.2450T>A
c.2677T>A (p.Tyr893Asn)
n.2250T>A
c.7699T>A (p.Tyr2567Asn)
c.7690T>A (p.Tyr2564Asn)
c.7681T>A (p.Tyr2561Asn)
c.7567T>A (p.Tyr2523Asn)
c.7402T>A (p.Tyr2468Asn)
c.5551T>A (p.Tyr1851Asn)
c.3241T>A (p.Tyr1081Asn)
n.7940T>A
18g.23915316T>CCA402058187LAMA3c.2845T>C (p.Tyr949His)
c.7672T>C (p.Tyr2558His)
c.4267T>C (p.Tyr1423His)
c.7504T>C (p.Tyr2502His)
c.2450T>C
c.2677T>C (p.Tyr893His)
n.2250T>C
c.7699T>C (p.Tyr2567His)
c.7690T>C (p.Tyr2564His)
c.7681T>C (p.Tyr2561His)
c.7567T>C (p.Tyr2523His)
c.7402T>C (p.Tyr2468His)
c.5551T>C (p.Tyr1851His)
c.3241T>C (p.Tyr1081His)
n.7940T>C
18g.23915316T>GCA402058189LAMA3c.2845T>G (p.Tyr949Asp)
c.7672T>G (p.Tyr2558Asp)
c.4267T>G (p.Tyr1423Asp)
c.7504T>G (p.Tyr2502Asp)
c.2450T>G
c.2677T>G (p.Tyr893Asp)
n.2250T>G
c.7699T>G (p.Tyr2567Asp)
c.7690T>G (p.Tyr2564Asp)
c.7681T>G (p.Tyr2561Asp)
c.7567T>G (p.Tyr2523Asp)
c.7402T>G (p.Tyr2468Asp)
c.5551T>G (p.Tyr1851Asp)
c.3241T>G (p.Tyr1081Asp)
n.7940T>G
18g.23915317A>CCA402058192LAMA3c.2846A>C (p.Tyr949Ser)
c.7673A>C (p.Tyr2558Ser)
c.4268A>C (p.Tyr1423Ser)
c.7505A>C (p.Tyr2502Ser)
c.2451A>C
c.2678A>C (p.Tyr893Ser)
n.2251A>C
c.7700A>C (p.Tyr2567Ser)
c.7691A>C (p.Tyr2564Ser)
c.7682A>C (p.Tyr2561Ser)
c.7568A>C (p.Tyr2523Ser)
c.7403A>C (p.Tyr2468Ser)
c.5552A>C (p.Tyr1851Ser)
c.3242A>C (p.Tyr1081Ser)
n.7941A>C
18g.23915317A>GCA402058194LAMA3c.2846A>G (p.Tyr949Cys)
c.7673A>G (p.Tyr2558Cys)
c.4268A>G (p.Tyr1423Cys)
c.7505A>G (p.Tyr2502Cys)
c.2451A>G
c.2678A>G (p.Tyr893Cys)
n.2251A>G
c.7700A>G (p.Tyr2567Cys)
c.7691A>G (p.Tyr2564Cys)
c.7682A>G (p.Tyr2561Cys)
c.7568A>G (p.Tyr2523Cys)
c.7403A>G (p.Tyr2468Cys)
c.5552A>G (p.Tyr1851Cys)
c.3242A>G (p.Tyr1081Cys)
n.7941A>G
18g.23915317A>TCA402058196LAMA3c.2846A>T (p.Tyr949Phe)
c.7673A>T (p.Tyr2558Phe)
c.4268A>T (p.Tyr1423Phe)
c.7505A>T (p.Tyr2502Phe)
c.2451A>T
c.2678A>T (p.Tyr893Phe)
n.2251A>T
c.7700A>T (p.Tyr2567Phe)
c.7691A>T (p.Tyr2564Phe)
c.7682A>T (p.Tyr2561Phe)
c.7568A>T (p.Tyr2523Phe)
c.7403A>T (p.Tyr2468Phe)
c.5552A>T (p.Tyr1851Phe)
c.3242A>T (p.Tyr1081Phe)
n.7941A>T
18g.23915318C>ACA402058198LAMA3c.2847C>A (p.Tyr949Ter)
c.7674C>A (p.Tyr2558Ter)
c.4269C>A (p.Tyr1423Ter)
c.7506C>A (p.Tyr2502Ter)
c.2452C>A
c.2679C>A (p.Tyr893Ter)
n.2252C>A
c.7701C>A (p.Tyr2567Ter)
c.7692C>A (p.Tyr2564Ter)
c.7683C>A (p.Tyr2561Ter)
c.7569C>A (p.Tyr2523Ter)
c.7404C>A (p.Tyr2468Ter)
c.5553C>A (p.Tyr1851Ter)
c.3243C>A (p.Tyr1081Ter)
n.7942C>A
18g.23915318C>GCA402058200LAMA3c.2847C>G (p.Tyr949Ter)
c.7674C>G (p.Tyr2558Ter)
c.4269C>G (p.Tyr1423Ter)
c.7506C>G (p.Tyr2502Ter)
c.2452C>G
c.2679C>G (p.Tyr893Ter)
n.2252C>G
c.7701C>G (p.Tyr2567Ter)
c.7692C>G (p.Tyr2564Ter)
c.7683C>G (p.Tyr2561Ter)
c.7569C>G (p.Tyr2523Ter)
c.7404C>G (p.Tyr2468Ter)
c.5553C>G (p.Tyr1851Ter)
c.3243C>G (p.Tyr1081Ter)
n.7942C>G
18g.23915318C>TCA503339283LAMA3c.2847C>T (p.Tyr949=)
c.7674C>T (p.Tyr2558=)
c.4269C>T (p.Tyr1423=)
c.7506C>T (p.Tyr2502=)
c.2452C>T
c.2679C>T (p.Tyr893=)
n.2252C>T
c.7701C>T (p.Tyr2567=)
c.7692C>T (p.Tyr2564=)
c.7683C>T (p.Tyr2561=)
c.7569C>T (p.Tyr2523=)
c.7404C>T (p.Tyr2468=)
c.5553C>T (p.Tyr1851=)
c.3243C>T (p.Tyr1081=)
n.7942C>T
 COSMIC COSMIC
18g.23915318_23915319delinsCACA2290328933LAMA3c.2847_2848delinsCA (p.Tyr949=)
c.7674_7675delinsCA (p.Tyr2558=)
c.4269_4270delinsCA (p.Tyr1423=)
c.7506_7507delinsCA (p.Tyr2502=)
c.2452_2453delinsCA
c.2679_2680delinsCA (p.Tyr893=)
n.2252_2253delinsCA
c.7701_7702delinsCA (p.Tyr2567=)
c.7692_7693delinsCA (p.Tyr2564=)
c.7683_7684delinsCA (p.Tyr2561=)
c.7569_7570delinsCA (p.Tyr2523=)
c.7404_7405delinsCA (p.Tyr2468=)
c.5553_5554delinsCA (p.Tyr1851=)
c.3243_3244delinsCA (p.Tyr1081=)
n.7942_7943delinsCA
18g.23915319A>CCA402058202LAMA3c.2848A>C (p.Lys950Gln)
c.7675A>C (p.Lys2559Gln)
c.4270A>C (p.Lys1424Gln)
c.7507A>C (p.Lys2503Gln)
c.2453A>C
c.2680A>C (p.Lys894Gln)
n.2253A>C
c.7702A>C (p.Lys2568Gln)
c.7693A>C (p.Lys2565Gln)
c.7684A>C (p.Lys2562Gln)
c.7570A>C (p.Lys2524Gln)
c.7405A>C (p.Lys2469Gln)
c.5554A>C (p.Lys1852Gln)
c.3244A>C (p.Lys1082Gln)
n.7943A>C
18g.23915319A>GCA402058204LAMA3c.2848A>G (p.Lys950Glu)
c.7675A>G (p.Lys2559Glu)
c.4270A>G (p.Lys1424Glu)
c.7507A>G (p.Lys2503Glu)
c.2453A>G
c.2680A>G (p.Lys894Glu)
n.2253A>G
c.7702A>G (p.Lys2568Glu)
c.7693A>G (p.Lys2565Glu)
c.7684A>G (p.Lys2562Glu)
c.7570A>G (p.Lys2524Glu)
c.7405A>G (p.Lys2469Glu)
c.5554A>G (p.Lys1852Glu)
c.3244A>G (p.Lys1082Glu)
n.7943A>G
 ClinVar gnomAD v4
18g.23915319A>TCA402058207LAMA3c.2848A>T (p.Lys950Ter)
c.7675A>T (p.Lys2559Ter)
c.4270A>T (p.Lys1424Ter)
c.7507A>T (p.Lys2503Ter)
c.2453A>T
c.2680A>T (p.Lys894Ter)
n.2253A>T
c.7702A>T (p.Lys2568Ter)
c.7693A>T (p.Lys2565Ter)
c.7684A>T (p.Lys2562Ter)
c.7570A>T (p.Lys2524Ter)
c.7405A>T (p.Lys2469Ter)
c.5554A>T (p.Lys1852Ter)
c.3244A>T (p.Lys1082Ter)
n.7943A>T
18g.23915321delCA16041939LAMA3c.2850del (p.Gly951ValfsTer5)
c.7677del (p.Gly2560ValfsTer5)
c.4272del (p.Gly1425ValfsTer5)
c.7509del (p.Gly2504ValfsTer5)
c.2455del
c.2682del (p.Gly895ValfsTer5)
n.2255del
c.7704del (p.Gly2569ValfsTer5)
c.7695del (p.Gly2566ValfsTer5)
c.7686del (p.Gly2563ValfsTer5)
c.7572del (p.Gly2525ValfsTer5)
c.7407del (p.Gly2470ValfsTer5)
c.5556del (p.Gly1853ValfsTer5)
c.3246del (p.Gly1083ValfsTer5)
n.7945del
 ClinVar dbSNP
18g.23915320A=CA2290328936LAMA3c.2849A= (p.Lys950=)
c.7676A= (p.Lys2559=)
c.4271A= (p.Lys1424=)
c.7508A= (p.Lys2503=)
c.2454A=
c.2681A= (p.Lys894=)
n.2254A=
c.7703A= (p.Lys2568=)
c.7694A= (p.Lys2565=)
c.7685A= (p.Lys2562=)
c.7571A= (p.Lys2524=)
c.7406A= (p.Lys2469=)
c.5555A= (p.Lys1852=)
c.3245A= (p.Lys1082=)
n.7944A=
18g.23915320A>CCA402058213LAMA3c.2849A>C (p.Lys950Thr)
c.7676A>C (p.Lys2559Thr)
c.4271A>C (p.Lys1424Thr)
c.7508A>C (p.Lys2503Thr)
c.2454A>C
c.2681A>C (p.Lys894Thr)
n.2254A>C
c.7703A>C (p.Lys2568Thr)
c.7694A>C (p.Lys2565Thr)
c.7685A>C (p.Lys2562Thr)
c.7571A>C (p.Lys2524Thr)
c.7406A>C (p.Lys2469Thr)
c.5555A>C (p.Lys1852Thr)
c.3245A>C (p.Lys1082Thr)
n.7944A>C
18g.23915320A>GCA8916721LAMA3c.2849A>G (p.Lys950Arg)
c.7676A>G (p.Lys2559Arg)
c.4271A>G (p.Lys1424Arg)
c.7508A>G (p.Lys2503Arg)
c.2454A>G
c.2681A>G (p.Lys894Arg)
n.2254A>G
c.7703A>G (p.Lys2568Arg)
c.7694A>G (p.Lys2565Arg)
c.7685A>G (p.Lys2562Arg)
c.7571A>G (p.Lys2524Arg)
c.7406A>G (p.Lys2469Arg)
c.5555A>G (p.Lys1852Arg)
c.3245A>G (p.Lys1082Arg)
n.7944A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915320A>TCA402058210LAMA3c.2849A>T (p.Lys950Ile)
c.7676A>T (p.Lys2559Ile)
c.4271A>T (p.Lys1424Ile)
c.7508A>T (p.Lys2503Ile)
c.2454A>T
c.2681A>T (p.Lys894Ile)
n.2254A>T
c.7703A>T (p.Lys2568Ile)
c.7694A>T (p.Lys2565Ile)
c.7685A>T (p.Lys2562Ile)
c.7571A>T (p.Lys2524Ile)
c.7406A>T (p.Lys2469Ile)
c.5555A>T (p.Lys1852Ile)
c.3245A>T (p.Lys1082Ile)
n.7944A>T
18g.23915321A>CCA402058215LAMA3c.2850A>C (p.Lys950Asn)
c.7677A>C (p.Lys2559Asn)
c.4272A>C (p.Lys1424Asn)
c.7509A>C (p.Lys2503Asn)
c.2455A>C
c.2682A>C (p.Lys894Asn)
n.2255A>C
c.7704A>C (p.Lys2568Asn)
c.7695A>C (p.Lys2565Asn)
c.7686A>C (p.Lys2562Asn)
c.7572A>C (p.Lys2524Asn)
c.7407A>C (p.Lys2469Asn)
c.5556A>C (p.Lys1852Asn)
c.3246A>C (p.Lys1082Asn)
n.7945A>C
18g.23915321A>GCA503339310LAMA3c.2850A>G (p.Lys950=)
c.7677A>G (p.Lys2559=)
c.4272A>G (p.Lys1424=)
c.7509A>G (p.Lys2503=)
c.2455A>G
c.2682A>G (p.Lys894=)
n.2255A>G
c.7704A>G (p.Lys2568=)
c.7695A>G (p.Lys2565=)
c.7686A>G (p.Lys2562=)
c.7572A>G (p.Lys2524=)
c.7407A>G (p.Lys2469=)
c.5556A>G (p.Lys1852=)
c.3246A>G (p.Lys1082=)
n.7945A>G
18g.23915321A>TCA402058217LAMA3c.2850A>T (p.Lys950Asn)
c.7677A>T (p.Lys2559Asn)
c.4272A>T (p.Lys1424Asn)
c.7509A>T (p.Lys2503Asn)
c.2455A>T
c.2682A>T (p.Lys894Asn)
n.2255A>T
c.7704A>T (p.Lys2568Asn)
c.7695A>T (p.Lys2565Asn)
c.7686A>T (p.Lys2562Asn)
c.7572A>T (p.Lys2524Asn)
c.7407A>T (p.Lys2469Asn)
c.5556A>T (p.Lys1852Asn)
c.3246A>T (p.Lys1082Asn)
n.7945A>T
18g.23915322G>ACA402058220LAMA3c.2851G>A (p.Gly951Ser)
c.7678G>A (p.Gly2560Ser)
c.4273G>A (p.Gly1425Ser)
c.7510G>A (p.Gly2504Ser)
c.2456G>A
c.2683G>A (p.Gly895Ser)
n.2256G>A
c.7705G>A (p.Gly2569Ser)
c.7696G>A (p.Gly2566Ser)
c.7687G>A (p.Gly2563Ser)
c.7573G>A (p.Gly2525Ser)
c.7408G>A (p.Gly2470Ser)
c.5557G>A (p.Gly1853Ser)
c.3247G>A (p.Gly1083Ser)
n.7946G>A
18g.23915322G>CCA402058222LAMA3c.2851G>C (p.Gly951Arg)
c.7678G>C (p.Gly2560Arg)
c.4273G>C (p.Gly1425Arg)
c.7510G>C (p.Gly2504Arg)
c.2456G>C
c.2683G>C (p.Gly895Arg)
n.2256G>C
c.7705G>C (p.Gly2569Arg)
c.7696G>C (p.Gly2566Arg)
c.7687G>C (p.Gly2563Arg)
c.7573G>C (p.Gly2525Arg)
c.7408G>C (p.Gly2470Arg)
c.5557G>C (p.Gly1853Arg)
c.3247G>C (p.Gly1083Arg)
n.7946G>C
18g.23915322G>TCA402058224LAMA3c.2851G>T (p.Gly951Cys)
c.7678G>T (p.Gly2560Cys)
c.4273G>T (p.Gly1425Cys)
c.7510G>T (p.Gly2504Cys)
c.2456G>T
c.2683G>T (p.Gly895Cys)
n.2256G>T
c.7705G>T (p.Gly2569Cys)
c.7696G>T (p.Gly2566Cys)
c.7687G>T (p.Gly2563Cys)
c.7573G>T (p.Gly2525Cys)
c.7408G>T (p.Gly2470Cys)
c.5557G>T (p.Gly1853Cys)
c.3247G>T (p.Gly1083Cys)
n.7946G>T
 gnomAD v4
18g.23915323G>ACA402058228LAMA3c.2852G>A (p.Gly951Asp)
c.7679G>A (p.Gly2560Asp)
c.4274G>A (p.Gly1425Asp)
c.7511G>A (p.Gly2504Asp)
c.2457G>A
c.2684G>A (p.Gly895Asp)
n.2257G>A
c.7706G>A (p.Gly2569Asp)
c.7697G>A (p.Gly2566Asp)
c.7688G>A (p.Gly2563Asp)
c.7574G>A (p.Gly2525Asp)
c.7409G>A (p.Gly2470Asp)
c.5558G>A (p.Gly1853Asp)
c.3248G>A (p.Gly1083Asp)
n.7947G>A
 gnomAD v4
18g.23915323G>CCA402058230LAMA3c.2852G>C (p.Gly951Ala)
c.7679G>C (p.Gly2560Ala)
c.4274G>C (p.Gly1425Ala)
c.7511G>C (p.Gly2504Ala)
c.2457G>C
c.2684G>C (p.Gly895Ala)
n.2257G>C
c.7706G>C (p.Gly2569Ala)
c.7697G>C (p.Gly2566Ala)
c.7688G>C (p.Gly2563Ala)
c.7574G>C (p.Gly2525Ala)
c.7409G>C (p.Gly2470Ala)
c.5558G>C (p.Gly1853Ala)
c.3248G>C (p.Gly1083Ala)
n.7947G>C
 dbSNP gnomAD v2 gnomAD v4
18g.23915323G=CA2290328938LAMA3c.2852G= (p.Gly951=)
c.7679G= (p.Gly2560=)
c.4274G= (p.Gly1425=)
c.7511G= (p.Gly2504=)
c.2457G=
c.2684G= (p.Gly895=)
n.2257G=
c.7706G= (p.Gly2569=)
c.7697G= (p.Gly2566=)
c.7688G= (p.Gly2563=)
c.7574G= (p.Gly2525=)
c.7409G= (p.Gly2470=)
c.5558G= (p.Gly1853=)
c.3248G= (p.Gly1083=)
n.7947G=
18g.23915323G>TCA402058231LAMA3c.2852G>T (p.Gly951Val)
c.7679G>T (p.Gly2560Val)
c.4274G>T (p.Gly1425Val)
c.7511G>T (p.Gly2504Val)
c.2457G>T
c.2684G>T (p.Gly895Val)
n.2257G>T
c.7706G>T (p.Gly2569Val)
c.7697G>T (p.Gly2566Val)
c.7688G>T (p.Gly2563Val)
c.7574G>T (p.Gly2525Val)
c.7409G>T (p.Gly2470Val)
c.5558G>T (p.Gly1853Val)
c.3248G>T (p.Gly1083Val)
n.7947G>T
18g.23915324T>ACA503339321LAMA3c.2853T>A (p.Gly951=)
c.7680T>A (p.Gly2560=)
c.4275T>A (p.Gly1425=)
c.7512T>A (p.Gly2504=)
c.2458T>A
c.2685T>A (p.Gly895=)
n.2258T>A
c.7707T>A (p.Gly2569=)
c.7698T>A (p.Gly2566=)
c.7689T>A (p.Gly2563=)
c.7575T>A (p.Gly2525=)
c.7410T>A (p.Gly2470=)
c.5559T>A (p.Gly1853=)
c.3249T>A (p.Gly1083=)
n.7948T>A
18g.23915324T>CCA503339323LAMA3c.2853T>C (p.Gly951=)
c.7680T>C (p.Gly2560=)
c.4275T>C (p.Gly1425=)
c.7512T>C (p.Gly2504=)
c.2458T>C
c.2685T>C (p.Gly895=)
n.2258T>C
c.7707T>C (p.Gly2569=)
c.7698T>C (p.Gly2566=)
c.7689T>C (p.Gly2563=)
c.7575T>C (p.Gly2525=)
c.7410T>C (p.Gly2470=)
c.5559T>C (p.Gly1853=)
c.3249T>C (p.Gly1083=)
n.7948T>C
18g.23915324T>GCA503339325LAMA3c.2853T>G (p.Gly951=)
c.7680T>G (p.Gly2560=)
c.4275T>G (p.Gly1425=)
c.7512T>G (p.Gly2504=)
c.2458T>G
c.2685T>G (p.Gly895=)
n.2258T>G
c.7707T>G (p.Gly2569=)
c.7698T>G (p.Gly2566=)
c.7689T>G (p.Gly2563=)
c.7575T>G (p.Gly2525=)
c.7410T>G (p.Gly2470=)
c.5559T>G (p.Gly1853=)
c.3249T>G (p.Gly1083=)
n.7948T>G
18g.23915325T>ACA402058233LAMA3c.2854T>A (p.Cys952Ser)
c.7681T>A (p.Cys2561Ser)
c.4276T>A (p.Cys1426Ser)
c.7513T>A (p.Cys2505Ser)
c.2459T>A
c.2686T>A (p.Cys896Ser)
n.2259T>A
c.7708T>A (p.Cys2570Ser)
c.7699T>A (p.Cys2567Ser)
c.7690T>A (p.Cys2564Ser)
c.7576T>A (p.Cys2526Ser)
c.7411T>A (p.Cys2471Ser)
c.5560T>A (p.Cys1854Ser)
c.3250T>A (p.Cys1084Ser)
n.7949T>A
18g.23915325T>CCA402058235LAMA3c.2854T>C (p.Cys952Arg)
c.7681T>C (p.Cys2561Arg)
c.4276T>C (p.Cys1426Arg)
c.7513T>C (p.Cys2505Arg)
c.2459T>C
c.2686T>C (p.Cys896Arg)
n.2259T>C
c.7708T>C (p.Cys2570Arg)
c.7699T>C (p.Cys2567Arg)
c.7690T>C (p.Cys2564Arg)
c.7576T>C (p.Cys2526Arg)
c.7411T>C (p.Cys2471Arg)
c.5560T>C (p.Cys1854Arg)
c.3250T>C (p.Cys1084Arg)
n.7949T>C
18g.23915325T>GCA402058237LAMA3c.2854T>G (p.Cys952Gly)
c.7681T>G (p.Cys2561Gly)
c.4276T>G (p.Cys1426Gly)
c.7513T>G (p.Cys2505Gly)
c.2459T>G
c.2686T>G (p.Cys896Gly)
n.2259T>G
c.7708T>G (p.Cys2570Gly)
c.7699T>G (p.Cys2567Gly)
c.7690T>G (p.Cys2564Gly)
c.7576T>G (p.Cys2526Gly)
c.7411T>G (p.Cys2471Gly)
c.5560T>G (p.Cys1854Gly)
c.3250T>G (p.Cys1084Gly)
n.7949T>G
18g.23915326G>ACA402058245LAMA3c.2855G>A (p.Cys952Tyr)
c.7682G>A (p.Cys2561Tyr)
c.4277G>A (p.Cys1426Tyr)
c.7514G>A (p.Cys2505Tyr)
c.2460G>A
c.2687G>A (p.Cys896Tyr)
n.2260G>A
c.7709G>A (p.Cys2570Tyr)
c.7700G>A (p.Cys2567Tyr)
c.7691G>A (p.Cys2564Tyr)
c.7577G>A (p.Cys2526Tyr)
c.7412G>A (p.Cys2471Tyr)
c.5561G>A (p.Cys1854Tyr)
c.3251G>A (p.Cys1084Tyr)
n.7950G>A
 dbSNP
18g.23915326G>CCA402058242LAMA3c.2855G>C (p.Cys952Ser)
c.7682G>C (p.Cys2561Ser)
c.4277G>C (p.Cys1426Ser)
c.7514G>C (p.Cys2505Ser)
c.2460G>C
c.2687G>C (p.Cys896Ser)
n.2260G>C
c.7709G>C (p.Cys2570Ser)
c.7700G>C (p.Cys2567Ser)
c.7691G>C (p.Cys2564Ser)
c.7577G>C (p.Cys2526Ser)
c.7412G>C (p.Cys2471Ser)
c.5561G>C (p.Cys1854Ser)
c.3251G>C (p.Cys1084Ser)
n.7950G>C
18g.23915326G=CA2290328940LAMA3c.2855G= (p.Cys952=)
c.7682G= (p.Cys2561=)
c.4277G= (p.Cys1426=)
c.7514G= (p.Cys2505=)
c.2460G=
c.2687G= (p.Cys896=)
n.2260G=
c.7709G= (p.Cys2570=)
c.7700G= (p.Cys2567=)
c.7691G= (p.Cys2564=)
c.7577G= (p.Cys2526=)
c.7412G= (p.Cys2471=)
c.5561G= (p.Cys1854=)
c.3251G= (p.Cys1084=)
n.7950G=
18g.23915326G>TCA402058240LAMA3c.2855G>T (p.Cys952Phe)
c.7682G>T (p.Cys2561Phe)
c.4277G>T (p.Cys1426Phe)
c.7514G>T (p.Cys2505Phe)
c.2460G>T
c.2687G>T (p.Cys896Phe)
n.2260G>T
c.7709G>T (p.Cys2570Phe)
c.7700G>T (p.Cys2567Phe)
c.7691G>T (p.Cys2564Phe)
c.7577G>T (p.Cys2526Phe)
c.7412G>T (p.Cys2471Phe)
c.5561G>T (p.Cys1854Phe)
c.3251G>T (p.Cys1084Phe)
n.7950G>T
18g.23915327T>ACA402058247LAMA3c.2856T>A (p.Cys952Ter)
c.7683T>A (p.Cys2561Ter)
c.4278T>A (p.Cys1426Ter)
c.7515T>A (p.Cys2505Ter)
c.2461T>A
c.2688T>A (p.Cys896Ter)
n.2261T>A
c.7710T>A (p.Cys2570Ter)
c.7701T>A (p.Cys2567Ter)
c.7692T>A (p.Cys2564Ter)
c.7578T>A (p.Cys2526Ter)
c.7413T>A (p.Cys2471Ter)
c.5562T>A (p.Cys1854Ter)
c.3252T>A (p.Cys1084Ter)
n.7951T>A
18g.23915327T>CCA503339341LAMA3c.2856T>C (p.Cys952=)
c.7683T>C (p.Cys2561=)
c.4278T>C (p.Cys1426=)
c.7515T>C (p.Cys2505=)
c.2461T>C
c.2688T>C (p.Cys896=)
n.2261T>C
c.7710T>C (p.Cys2570=)
c.7701T>C (p.Cys2567=)
c.7692T>C (p.Cys2564=)
c.7578T>C (p.Cys2526=)
c.7413T>C (p.Cys2471=)
c.5562T>C (p.Cys1854=)
c.3252T>C (p.Cys1084=)
n.7951T>C
 dbSNP gnomAD v2 gnomAD v4
18g.23915327T>GCA402058249LAMA3c.2856T>G (p.Cys952Trp)
c.7683T>G (p.Cys2561Trp)
c.4278T>G (p.Cys1426Trp)
c.7515T>G (p.Cys2505Trp)
c.2461T>G
c.2688T>G (p.Cys896Trp)
n.2261T>G
c.7710T>G (p.Cys2570Trp)
c.7701T>G (p.Cys2567Trp)
c.7692T>G (p.Cys2564Trp)
c.7578T>G (p.Cys2526Trp)
c.7413T>G (p.Cys2471Trp)
c.5562T>G (p.Cys1854Trp)
c.3252T>G (p.Cys1084Trp)
n.7951T>G
18g.23915327T=CA2290328941LAMA3c.2856T= (p.Cys952=)
c.7683T= (p.Cys2561=)
c.4278T= (p.Cys1426=)
c.7515T= (p.Cys2505=)
c.2461T=
c.2688T= (p.Cys896=)
n.2261T=
c.7710T= (p.Cys2570=)
c.7701T= (p.Cys2567=)
c.7692T= (p.Cys2564=)
c.7578T= (p.Cys2526=)
c.7413T= (p.Cys2471=)
c.5562T= (p.Cys1854=)
c.3252T= (p.Cys1084=)
n.7951T=
18g.23915328A=CA2290328943LAMA3c.2857A= (p.Ile953=)
c.7684A= (p.Ile2562=)
c.4279A= (p.Ile1427=)
c.7516A= (p.Ile2506=)
c.2462A=
c.2689A= (p.Ile897=)
n.2262A=
c.7711A= (p.Ile2571=)
c.7702A= (p.Ile2568=)
c.7693A= (p.Ile2565=)
c.7579A= (p.Ile2527=)
c.7414A= (p.Ile2472=)
c.5563A= (p.Ile1855=)
c.3253A= (p.Ile1085=)
n.7952A=
18g.23915328A>CCA402058253LAMA3c.2857A>C (p.Ile953Leu)
c.7684A>C (p.Ile2562Leu)
c.4279A>C (p.Ile1427Leu)
c.7516A>C (p.Ile2506Leu)
c.2462A>C
c.2689A>C (p.Ile897Leu)
n.2262A>C
c.7711A>C (p.Ile2571Leu)
c.7702A>C (p.Ile2568Leu)
c.7693A>C (p.Ile2565Leu)
c.7579A>C (p.Ile2527Leu)
c.7414A>C (p.Ile2472Leu)
c.5563A>C (p.Ile1855Leu)
c.3253A>C (p.Ile1085Leu)
n.7952A>C
18g.23915328A>GCA402058255LAMA3c.2857A>G (p.Ile953Val)
c.7684A>G (p.Ile2562Val)
c.4279A>G (p.Ile1427Val)
c.7516A>G (p.Ile2506Val)
c.2462A>G
c.2689A>G (p.Ile897Val)
n.2262A>G
c.7711A>G (p.Ile2571Val)
c.7702A>G (p.Ile2568Val)
c.7693A>G (p.Ile2565Val)
c.7579A>G (p.Ile2527Val)
c.7414A>G (p.Ile2472Val)
c.5563A>G (p.Ile1855Val)
c.3253A>G (p.Ile1085Val)
n.7952A>G
 dbSNP
18g.23915328A>TCA402058257LAMA3c.2857A>T (p.Ile953Phe)
c.7684A>T (p.Ile2562Phe)
c.4279A>T (p.Ile1427Phe)
c.7516A>T (p.Ile2506Phe)
c.2462A>T
c.2689A>T (p.Ile897Phe)
n.2262A>T
c.7711A>T (p.Ile2571Phe)
c.7702A>T (p.Ile2568Phe)
c.7693A>T (p.Ile2565Phe)
c.7579A>T (p.Ile2527Phe)
c.7414A>T (p.Ile2472Phe)
c.5563A>T (p.Ile1855Phe)
c.3253A>T (p.Ile1085Phe)
n.7952A>T
18g.23915329T>ACA402058259LAMA3c.2858T>A (p.Ile953Asn)
c.7685T>A (p.Ile2562Asn)
c.4280T>A (p.Ile1427Asn)
c.7517T>A (p.Ile2506Asn)
c.2463T>A
c.2690T>A (p.Ile897Asn)
n.2263T>A
c.7712T>A (p.Ile2571Asn)
c.7703T>A (p.Ile2568Asn)
c.7694T>A (p.Ile2565Asn)
c.7580T>A (p.Ile2527Asn)
c.7415T>A (p.Ile2472Asn)
c.5564T>A (p.Ile1855Asn)
c.3254T>A (p.Ile1085Asn)
n.7953T>A
18g.23915329T>CCA402058261LAMA3c.2858T>C (p.Ile953Thr)
c.7685T>C (p.Ile2562Thr)
c.4280T>C (p.Ile1427Thr)
c.7517T>C (p.Ile2506Thr)
c.2463T>C
c.2690T>C (p.Ile897Thr)
n.2263T>C
c.7712T>C (p.Ile2571Thr)
c.7703T>C (p.Ile2568Thr)
c.7694T>C (p.Ile2565Thr)
c.7580T>C (p.Ile2527Thr)
c.7415T>C (p.Ile2472Thr)
c.5564T>C (p.Ile1855Thr)
c.3254T>C (p.Ile1085Thr)
n.7953T>C
18g.23915329T>GCA402058262LAMA3c.2858T>G (p.Ile953Ser)
c.7685T>G (p.Ile2562Ser)
c.4280T>G (p.Ile1427Ser)
c.7517T>G (p.Ile2506Ser)
c.2463T>G
c.2690T>G (p.Ile897Ser)
n.2263T>G
c.7712T>G (p.Ile2571Ser)
c.7703T>G (p.Ile2568Ser)
c.7694T>G (p.Ile2565Ser)
c.7580T>G (p.Ile2527Ser)
c.7415T>G (p.Ile2472Ser)
c.5564T>G (p.Ile1855Ser)
c.3254T>G (p.Ile1085Ser)
n.7953T>G
18g.23915330T>ACA503339352LAMA3c.2859T>A (p.Ile953=)
c.7686T>A (p.Ile2562=)
c.4281T>A (p.Ile1427=)
c.7518T>A (p.Ile2506=)
c.2464T>A
c.2691T>A (p.Ile897=)
n.2264T>A
c.7713T>A (p.Ile2571=)
c.7704T>A (p.Ile2568=)
c.7695T>A (p.Ile2565=)
c.7581T>A (p.Ile2527=)
c.7416T>A (p.Ile2472=)
c.5565T>A (p.Ile1855=)
c.3255T>A (p.Ile1085=)
n.7954T>A
18g.23915330T>CCA503339354LAMA3c.2859T>C (p.Ile953=)
c.7686T>C (p.Ile2562=)
c.4281T>C (p.Ile1427=)
c.7518T>C (p.Ile2506=)
c.2464T>C
c.2691T>C (p.Ile897=)
n.2264T>C
c.7713T>C (p.Ile2571=)
c.7704T>C (p.Ile2568=)
c.7695T>C (p.Ile2565=)
c.7581T>C (p.Ile2527=)
c.7416T>C (p.Ile2472=)
c.5565T>C (p.Ile1855=)
c.3255T>C (p.Ile1085=)
n.7954T>C
18g.23915330T>GCA402058263LAMA3c.2859T>G (p.Ile953Met)
c.7686T>G (p.Ile2562Met)
c.4281T>G (p.Ile1427Met)
c.7518T>G (p.Ile2506Met)
c.2464T>G
c.2691T>G (p.Ile897Met)
n.2264T>G
c.7713T>G (p.Ile2571Met)
c.7704T>G (p.Ile2568Met)
c.7695T>G (p.Ile2565Met)
c.7581T>G (p.Ile2527Met)
c.7416T>G (p.Ile2472Met)
c.5565T>G (p.Ile1855Met)
c.3255T>G (p.Ile1085Met)
n.7954T>G
18g.23915331G>ACA402058265LAMA3c.2860G>A (p.Glu954Lys)
c.7687G>A (p.Glu2563Lys)
c.4282G>A (p.Glu1428Lys)
c.7519G>A (p.Glu2507Lys)
c.2465G>A
c.2692G>A (p.Glu898Lys)
n.2265G>A
c.7714G>A (p.Glu2572Lys)
c.7705G>A (p.Glu2569Lys)
c.7696G>A (p.Glu2566Lys)
c.7582G>A (p.Glu2528Lys)
c.7417G>A (p.Glu2473Lys)
c.5566G>A (p.Glu1856Lys)
c.3256G>A (p.Glu1086Lys)
n.7955G>A
18g.23915331G>CCA402058267LAMA3c.2860G>C (p.Glu954Gln)
c.7687G>C (p.Glu2563Gln)
c.4282G>C (p.Glu1428Gln)
c.7519G>C (p.Glu2507Gln)
c.2465G>C
c.2692G>C (p.Glu898Gln)
n.2265G>C
c.7714G>C (p.Glu2572Gln)
c.7705G>C (p.Glu2569Gln)
c.7696G>C (p.Glu2566Gln)
c.7582G>C (p.Glu2528Gln)
c.7417G>C (p.Glu2473Gln)
c.5566G>C (p.Glu1856Gln)
c.3256G>C (p.Glu1086Gln)
n.7955G>C
18g.23915331G>TCA402058268LAMA3c.2860G>T (p.Glu954Ter)
c.7687G>T (p.Glu2563Ter)
c.4282G>T (p.Glu1428Ter)
c.7519G>T (p.Glu2507Ter)
c.2465G>T
c.2692G>T (p.Glu898Ter)
n.2265G>T
c.7714G>T (p.Glu2572Ter)
c.7705G>T (p.Glu2569Ter)
c.7696G>T (p.Glu2566Ter)
c.7582G>T (p.Glu2528Ter)
c.7417G>T (p.Glu2473Ter)
c.5566G>T (p.Glu1856Ter)
c.3256G>T (p.Glu1086Ter)
n.7955G>T
 gnomAD v4
18g.23915332A>CCA402058274LAMA3c.2861A>C (p.Glu954Ala)
c.7688A>C (p.Glu2563Ala)
c.4283A>C (p.Glu1428Ala)
c.7520A>C (p.Glu2507Ala)
c.2466A>C
c.2693A>C (p.Glu898Ala)
n.2266A>C
c.7715A>C (p.Glu2572Ala)
c.7706A>C (p.Glu2569Ala)
c.7697A>C (p.Glu2566Ala)
c.7583A>C (p.Glu2528Ala)
c.7418A>C (p.Glu2473Ala)
c.5567A>C (p.Glu1856Ala)
c.3257A>C (p.Glu1086Ala)
n.7956A>C
18g.23915332A>GCA402058271LAMA3c.2861A>G (p.Glu954Gly)
c.7688A>G (p.Glu2563Gly)
c.4283A>G (p.Glu1428Gly)
c.7520A>G (p.Glu2507Gly)
c.2466A>G
c.2693A>G (p.Glu898Gly)
n.2266A>G
c.7715A>G (p.Glu2572Gly)
c.7706A>G (p.Glu2569Gly)
c.7697A>G (p.Glu2566Gly)
c.7583A>G (p.Glu2528Gly)
c.7418A>G (p.Glu2473Gly)
c.5567A>G (p.Glu1856Gly)
c.3257A>G (p.Glu1086Gly)
n.7956A>G
18g.23915332A>TCA402058273LAMA3c.2861A>T (p.Glu954Val)
c.7688A>T (p.Glu2563Val)
c.4283A>T (p.Glu1428Val)
c.7520A>T (p.Glu2507Val)
c.2466A>T
c.2693A>T (p.Glu898Val)
n.2266A>T
c.7715A>T (p.Glu2572Val)
c.7706A>T (p.Glu2569Val)
c.7697A>T (p.Glu2566Val)
c.7583A>T (p.Glu2528Val)
c.7418A>T (p.Glu2473Val)
c.5567A>T (p.Glu1856Val)
c.3257A>T (p.Glu1086Val)
n.7956A>T
18g.23915332_23915333insTGACCTCAATGTCA2734655424LAMA3c.2861_2862insTGACCTCAATGT (p.Glu954delinsAspAspLeuAsnVal)
c.7688_7689insTGACCTCAATGT (p.Glu2563delinsAspAspLeuAsnVal)
c.4283_4284insTGACCTCAATGT (p.Glu1428delinsAspAspLeuAsnVal)
c.7520_7521insTGACCTCAATGT (p.Glu2507delinsAspAspLeuAsnVal)
c.2466_2467insTGACCTCAATGT
c.2693_2694insTGACCTCAATGT (p.Glu898delinsAspAspLeuAsnVal)
n.2266_2267insTGACCTCAATGT
c.7715_7716insTGACCTCAATGT (p.Glu2572delinsAspAspLeuAsnVal)
c.7706_7707insTGACCTCAATGT (p.Glu2569delinsAspAspLeuAsnVal)
c.7697_7698insTGACCTCAATGT (p.Glu2566delinsAspAspLeuAsnVal)
c.7583_7584insTGACCTCAATGT (p.Glu2528delinsAspAspLeuAsnVal)
c.7418_7419insTGACCTCAATGT (p.Glu2473delinsAspAspLeuAsnVal)
c.5567_5568insTGACCTCAATGT (p.Glu1856delinsAspAspLeuAsnVal)
c.3257_3258insTGACCTCAATGT (p.Glu1086delinsAspAspLeuAsnVal)
n.7956_7957insTGACCTCAATGT
 dbSNP
18g.23915333A>CCA402058277LAMA3c.2862A>C (p.Glu954Asp)
c.7689A>C (p.Glu2563Asp)
c.4284A>C (p.Glu1428Asp)
c.7521A>C (p.Glu2507Asp)
c.2467A>C
c.2694A>C (p.Glu898Asp)
n.2267A>C
c.7716A>C (p.Glu2572Asp)
c.7707A>C (p.Glu2569Asp)
c.7698A>C (p.Glu2566Asp)
c.7584A>C (p.Glu2528Asp)
c.7419A>C (p.Glu2473Asp)
c.5568A>C (p.Glu1856Asp)
c.3258A>C (p.Glu1086Asp)
n.7957A>C
18g.23915333A>GCA503339366LAMA3c.2862A>G (p.Glu954=)
c.7689A>G (p.Glu2563=)
c.4284A>G (p.Glu1428=)
c.7521A>G (p.Glu2507=)
c.2467A>G
c.2694A>G (p.Glu898=)
n.2267A>G
c.7716A>G (p.Glu2572=)
c.7707A>G (p.Glu2569=)
c.7698A>G (p.Glu2566=)
c.7584A>G (p.Glu2528=)
c.7419A>G (p.Glu2473=)
c.5568A>G (p.Glu1856=)
c.3258A>G (p.Glu1086=)
n.7957A>G
18g.23915333A>TCA402058280LAMA3c.2862A>T (p.Glu954Asp)
c.7689A>T (p.Glu2563Asp)
c.4284A>T (p.Glu1428Asp)
c.7521A>T (p.Glu2507Asp)
c.2467A>T
c.2694A>T (p.Glu898Asp)
n.2267A>T
c.7716A>T (p.Glu2572Asp)
c.7707A>T (p.Glu2569Asp)
c.7698A>T (p.Glu2566Asp)
c.7584A>T (p.Glu2528Asp)
c.7419A>T (p.Glu2473Asp)
c.5568A>T (p.Glu1856Asp)
c.3258A>T (p.Glu1086Asp)
n.7957A>T
18g.23915334T>ACA402058281LAMA3c.2863T>A (p.Leu955Ile)
c.7690T>A (p.Leu2564Ile)
c.4285T>A (p.Leu1429Ile)
c.7522T>A (p.Leu2508Ile)
c.2468T>A
c.2695T>A (p.Leu899Ile)
n.2268T>A
c.7717T>A (p.Leu2573Ile)
c.7708T>A (p.Leu2570Ile)
c.7699T>A (p.Leu2567Ile)
c.7585T>A (p.Leu2529Ile)
c.7420T>A (p.Leu2474Ile)
c.5569T>A (p.Leu1857Ile)
c.3259T>A (p.Leu1087Ile)
n.7958T>A
18g.23915334T>CCA503339371LAMA3c.2863T>C (p.Leu955=)
c.7690T>C (p.Leu2564=)
c.4285T>C (p.Leu1429=)
c.7522T>C (p.Leu2508=)
c.2468T>C
c.2695T>C (p.Leu899=)
n.2268T>C
c.7717T>C (p.Leu2573=)
c.7708T>C (p.Leu2570=)
c.7699T>C (p.Leu2567=)
c.7585T>C (p.Leu2529=)
c.7420T>C (p.Leu2474=)
c.5569T>C (p.Leu1857=)
c.3259T>C (p.Leu1087=)
n.7958T>C
18g.23915334T>GCA402058282LAMA3c.2863T>G (p.Leu955Val)
c.7690T>G (p.Leu2564Val)
c.4285T>G (p.Leu1429Val)
c.7522T>G (p.Leu2508Val)
c.2468T>G
c.2695T>G (p.Leu899Val)
n.2268T>G
c.7717T>G (p.Leu2573Val)
c.7708T>G (p.Leu2570Val)
c.7699T>G (p.Leu2567Val)
c.7585T>G (p.Leu2529Val)
c.7420T>G (p.Leu2474Val)
c.5569T>G (p.Leu1857Val)
c.3259T>G (p.Leu1087Val)
n.7958T>G
18g.23915335T>ACA402058285LAMA3c.2864T>A (p.Leu955Ter)
c.7691T>A (p.Leu2564Ter)
c.4286T>A (p.Leu1429Ter)
c.7523T>A (p.Leu2508Ter)
c.2469T>A
c.2696T>A (p.Leu899Ter)
n.2269T>A
c.7718T>A (p.Leu2573Ter)
c.7709T>A (p.Leu2570Ter)
c.7700T>A (p.Leu2567Ter)
c.7586T>A (p.Leu2529Ter)
c.7421T>A (p.Leu2474Ter)
c.5570T>A (p.Leu1857Ter)
c.3260T>A (p.Leu1087Ter)
n.7959T>A
18g.23915335T>CCA402058286LAMA3c.2864T>C (p.Leu955Ser)
c.7691T>C (p.Leu2564Ser)
c.4286T>C (p.Leu1429Ser)
c.7523T>C (p.Leu2508Ser)
c.2469T>C
c.2696T>C (p.Leu899Ser)
n.2269T>C
c.7718T>C (p.Leu2573Ser)
c.7709T>C (p.Leu2570Ser)
c.7700T>C (p.Leu2567Ser)
c.7586T>C (p.Leu2529Ser)
c.7421T>C (p.Leu2474Ser)
c.5570T>C (p.Leu1857Ser)
c.3260T>C (p.Leu1087Ser)
n.7959T>C
18g.23915335T>GCA402058288LAMA3c.2864T>G (p.Leu955Ter)
c.7691T>G (p.Leu2564Ter)
c.4286T>G (p.Leu1429Ter)
c.7523T>G (p.Leu2508Ter)
c.2469T>G
c.2696T>G (p.Leu899Ter)
n.2269T>G
c.7718T>G (p.Leu2573Ter)
c.7709T>G (p.Leu2570Ter)
c.7700T>G (p.Leu2567Ter)
c.7586T>G (p.Leu2529Ter)
c.7421T>G (p.Leu2474Ter)
c.5570T>G (p.Leu1857Ter)
c.3260T>G (p.Leu1087Ter)
n.7959T>G
18g.23915336A>CCA402058290LAMA3c.2865A>C (p.Leu955Phe)
c.7692A>C (p.Leu2564Phe)
c.4287A>C (p.Leu1429Phe)
c.7524A>C (p.Leu2508Phe)
c.2470A>C
c.2697A>C (p.Leu899Phe)
n.2270A>C
c.7719A>C (p.Leu2573Phe)
c.7710A>C (p.Leu2570Phe)
c.7701A>C (p.Leu2567Phe)
c.7587A>C (p.Leu2529Phe)
c.7422A>C (p.Leu2474Phe)
c.5571A>C (p.Leu1857Phe)
c.3261A>C (p.Leu1087Phe)
n.7960A>C
18g.23915336A>GCA503339377LAMA3c.2865A>G (p.Leu955=)
c.7692A>G (p.Leu2564=)
c.4287A>G (p.Leu1429=)
c.7524A>G (p.Leu2508=)
c.2470A>G
c.2697A>G (p.Leu899=)
n.2270A>G
c.7719A>G (p.Leu2573=)
c.7710A>G (p.Leu2570=)
c.7701A>G (p.Leu2567=)
c.7587A>G (p.Leu2529=)
c.7422A>G (p.Leu2474=)
c.5571A>G (p.Leu1857=)
c.3261A>G (p.Leu1087=)
n.7960A>G
 ClinVar
18g.23915336A>TCA402058292LAMA3c.2865A>T (p.Leu955Phe)
c.7692A>T (p.Leu2564Phe)
c.4287A>T (p.Leu1429Phe)
c.7524A>T (p.Leu2508Phe)
c.2470A>T
c.2697A>T (p.Leu899Phe)
n.2270A>T
c.7719A>T (p.Leu2573Phe)
c.7710A>T (p.Leu2570Phe)
c.7701A>T (p.Leu2567Phe)
c.7587A>T (p.Leu2529Phe)
c.7422A>T (p.Leu2474Phe)
c.5571A>T (p.Leu1857Phe)
c.3261A>T (p.Leu1087Phe)
n.7960A>T
18g.23915337G>ACA402058294LAMA3c.2866G>A (p.Asp956Asn)
c.7693G>A (p.Asp2565Asn)
c.4288G>A (p.Asp1430Asn)
c.7525G>A (p.Asp2509Asn)
c.2471G>A
c.2698G>A (p.Asp900Asn)
n.2271G>A
c.7720G>A (p.Asp2574Asn)
c.7711G>A (p.Asp2571Asn)
c.7702G>A (p.Asp2568Asn)
c.7588G>A (p.Asp2530Asn)
c.7423G>A (p.Asp2475Asn)
c.5572G>A (p.Asp1858Asn)
c.3262G>A (p.Asp1088Asn)
n.7961G>A
 gnomAD v4
18g.23915337G>CCA402058296LAMA3c.2866G>C (p.Asp956His)
c.7693G>C (p.Asp2565His)
c.4288G>C (p.Asp1430His)
c.7525G>C (p.Asp2509His)
c.2471G>C
c.2698G>C (p.Asp900His)
n.2271G>C
c.7720G>C (p.Asp2574His)
c.7711G>C (p.Asp2571His)
c.7702G>C (p.Asp2568His)
c.7588G>C (p.Asp2530His)
c.7423G>C (p.Asp2475His)
c.5572G>C (p.Asp1858His)
c.3262G>C (p.Asp1088His)
n.7961G>C
18g.23915337G>TCA402058298LAMA3c.2866G>T (p.Asp956Tyr)
c.7693G>T (p.Asp2565Tyr)
c.4288G>T (p.Asp1430Tyr)
c.7525G>T (p.Asp2509Tyr)
c.2471G>T
c.2698G>T (p.Asp900Tyr)
n.2271G>T
c.7720G>T (p.Asp2574Tyr)
c.7711G>T (p.Asp2571Tyr)
c.7702G>T (p.Asp2568Tyr)
c.7588G>T (p.Asp2530Tyr)
c.7423G>T (p.Asp2475Tyr)
c.5572G>T (p.Asp1858Tyr)
c.3262G>T (p.Asp1088Tyr)
n.7961G>T
18g.23915338A>CCA402058305LAMA3c.2867A>C (p.Asp956Ala)
c.7694A>C (p.Asp2565Ala)
c.4289A>C (p.Asp1430Ala)
c.7526A>C (p.Asp2509Ala)
c.2472A>C
c.2699A>C (p.Asp900Ala)
n.2272A>C
c.7721A>C (p.Asp2574Ala)
c.7712A>C (p.Asp2571Ala)
c.7703A>C (p.Asp2568Ala)
c.7589A>C (p.Asp2530Ala)
c.7424A>C (p.Asp2475Ala)
c.5573A>C (p.Asp1858Ala)
c.3263A>C (p.Asp1088Ala)
n.7962A>C
18g.23915338A>GCA402058307LAMA3c.2867A>G (p.Asp956Gly)
c.7694A>G (p.Asp2565Gly)
c.4289A>G (p.Asp1430Gly)
c.7526A>G (p.Asp2509Gly)
c.2472A>G
c.2699A>G (p.Asp900Gly)
n.2272A>G
c.7721A>G (p.Asp2574Gly)
c.7712A>G (p.Asp2571Gly)
c.7703A>G (p.Asp2568Gly)
c.7589A>G (p.Asp2530Gly)
c.7424A>G (p.Asp2475Gly)
c.5573A>G (p.Asp1858Gly)
c.3263A>G (p.Asp1088Gly)
n.7962A>G
18g.23915338A>TCA402058302LAMA3c.2867A>T (p.Asp956Val)
c.7694A>T (p.Asp2565Val)
c.4289A>T (p.Asp1430Val)
c.7526A>T (p.Asp2509Val)
c.2472A>T
c.2699A>T (p.Asp900Val)
n.2272A>T
c.7721A>T (p.Asp2574Val)
c.7712A>T (p.Asp2571Val)
c.7703A>T (p.Asp2568Val)
c.7589A>T (p.Asp2530Val)
c.7424A>T (p.Asp2475Val)
c.5573A>T (p.Asp1858Val)
c.3263A>T (p.Asp1088Val)
n.7962A>T
18g.23915339_23915346delCA2695200388LAMA3c.2868_2875del (p.Asp956GlufsTer2)
c.7695_7702del (p.Asp2565GlufsTer2)
c.4290_4297del (p.Asp1430GlufsTer2)
c.7527_7534del (p.Asp2509GlufsTer2)
c.2473_2480del
c.2700_2707del (p.Asp900GlufsTer2)
n.2273_2280del
c.7722_7729del (p.Asp2574GlufsTer2)
c.7713_7720del (p.Asp2571GlufsTer2)
c.7704_7711del (p.Asp2568GlufsTer2)
c.7590_7597del (p.Asp2530GlufsTer2)
c.7425_7432del (p.Asp2475GlufsTer2)
c.5574_5581del (p.Asp1858GlufsTer2)
c.3264_3271del (p.Asp1088GlufsTer2)
n.7963_7970del
 ClinVar
18g.23915339T>ACA402058312LAMA3c.2868T>A (p.Asp956Glu)
c.7695T>A (p.Asp2565Glu)
c.4290T>A (p.Asp1430Glu)
c.7527T>A (p.Asp2509Glu)
c.2473T>A
c.2700T>A (p.Asp900Glu)
n.2273T>A
c.7722T>A (p.Asp2574Glu)
c.7713T>A (p.Asp2571Glu)
c.7704T>A (p.Asp2568Glu)
c.7590T>A (p.Asp2530Glu)
c.7425T>A (p.Asp2475Glu)
c.5574T>A (p.Asp1858Glu)
c.3264T>A (p.Asp1088Glu)
n.7963T>A
18g.23915339T>CCA503339388LAMA3c.2868T>C (p.Asp956=)
c.7695T>C (p.Asp2565=)
c.4290T>C (p.Asp1430=)
c.7527T>C (p.Asp2509=)
c.2473T>C
c.2700T>C (p.Asp900=)
n.2273T>C
c.7722T>C (p.Asp2574=)
c.7713T>C (p.Asp2571=)
c.7704T>C (p.Asp2568=)
c.7590T>C (p.Asp2530=)
c.7425T>C (p.Asp2475=)
c.5574T>C (p.Asp1858=)
c.3264T>C (p.Asp1088=)
n.7963T>C
 ClinVar gnomAD v4
18g.23915339T>GCA402058310LAMA3c.2868T>G (p.Asp956Glu)
c.7695T>G (p.Asp2565Glu)
c.4290T>G (p.Asp1430Glu)
c.7527T>G (p.Asp2509Glu)
c.2473T>G
c.2700T>G (p.Asp900Glu)
n.2273T>G
c.7722T>G (p.Asp2574Glu)
c.7713T>G (p.Asp2571Glu)
c.7704T>G (p.Asp2568Glu)
c.7590T>G (p.Asp2530Glu)
c.7425T>G (p.Asp2475Glu)
c.5574T>G (p.Asp1858Glu)
c.3264T>G (p.Asp1088Glu)
n.7963T>G
18g.23915340G>ACA402058315LAMA3c.2869G>A (p.Asp957Asn)
c.7696G>A (p.Asp2566Asn)
c.4291G>A (p.Asp1431Asn)
c.7528G>A (p.Asp2510Asn)
c.2474G>A
c.2701G>A (p.Asp901Asn)
n.2274G>A
c.7723G>A (p.Asp2575Asn)
c.7714G>A (p.Asp2572Asn)
c.7705G>A (p.Asp2569Asn)
c.7591G>A (p.Asp2531Asn)
c.7426G>A (p.Asp2476Asn)
c.5575G>A (p.Asp1859Asn)
c.3265G>A (p.Asp1089Asn)
n.7964G>A
18g.23915340G>CCA402058317LAMA3c.2869G>C (p.Asp957His)
c.7696G>C (p.Asp2566His)
c.4291G>C (p.Asp1431His)
c.7528G>C (p.Asp2510His)
c.2474G>C
c.2701G>C (p.Asp901His)
n.2274G>C
c.7723G>C (p.Asp2575His)
c.7714G>C (p.Asp2572His)
c.7705G>C (p.Asp2569His)
c.7591G>C (p.Asp2531His)
c.7426G>C (p.Asp2476His)
c.5575G>C (p.Asp1859His)
c.3265G>C (p.Asp1089His)
n.7964G>C
18g.23915340G>TCA402058318LAMA3c.2869G>T (p.Asp957Tyr)
c.7696G>T (p.Asp2566Tyr)
c.4291G>T (p.Asp1431Tyr)
c.7528G>T (p.Asp2510Tyr)
c.2474G>T
c.2701G>T (p.Asp901Tyr)
n.2274G>T
c.7723G>T (p.Asp2575Tyr)
c.7714G>T (p.Asp2572Tyr)
c.7705G>T (p.Asp2569Tyr)
c.7591G>T (p.Asp2531Tyr)
c.7426G>T (p.Asp2476Tyr)
c.5575G>T (p.Asp1859Tyr)
c.3265G>T (p.Asp1089Tyr)
n.7964G>T
18g.23915341A=CA2290328945LAMA3c.2870A= (p.Asp957=)
c.7697A= (p.Asp2566=)
c.4292A= (p.Asp1431=)
c.7529A= (p.Asp2510=)
c.2475A=
c.2702A= (p.Asp901=)
n.2275A=
c.7724A= (p.Asp2575=)
c.7715A= (p.Asp2572=)
c.7706A= (p.Asp2569=)
c.7592A= (p.Asp2531=)
c.7427A= (p.Asp2476=)
c.5576A= (p.Asp1859=)
c.3266A= (p.Asp1089=)
n.7965A=
18g.23915341A>CCA402058321LAMA3c.2870A>C (p.Asp957Ala)
c.7697A>C (p.Asp2566Ala)
c.4292A>C (p.Asp1431Ala)
c.7529A>C (p.Asp2510Ala)
c.2475A>C
c.2702A>C (p.Asp901Ala)
n.2275A>C
c.7724A>C (p.Asp2575Ala)
c.7715A>C (p.Asp2572Ala)
c.7706A>C (p.Asp2569Ala)
c.7592A>C (p.Asp2531Ala)
c.7427A>C (p.Asp2476Ala)
c.5576A>C (p.Asp1859Ala)
c.3266A>C (p.Asp1089Ala)
n.7965A>C
18g.23915341A>GCA402058323LAMA3c.2870A>G (p.Asp957Gly)
c.7697A>G (p.Asp2566Gly)
c.4292A>G (p.Asp1431Gly)
c.7529A>G (p.Asp2510Gly)
c.2475A>G
c.2702A>G (p.Asp901Gly)
n.2275A>G
c.7724A>G (p.Asp2575Gly)
c.7715A>G (p.Asp2572Gly)
c.7706A>G (p.Asp2569Gly)
c.7592A>G (p.Asp2531Gly)
c.7427A>G (p.Asp2476Gly)
c.5576A>G (p.Asp1859Gly)
c.3266A>G (p.Asp1089Gly)
n.7965A>G
 dbSNP gnomAD v4
18g.23915341A>TCA402058325LAMA3c.2870A>T (p.Asp957Val)
c.7697A>T (p.Asp2566Val)
c.4292A>T (p.Asp1431Val)
c.7529A>T (p.Asp2510Val)
c.2475A>T
c.2702A>T (p.Asp901Val)
n.2275A>T
c.7724A>T (p.Asp2575Val)
c.7715A>T (p.Asp2572Val)
c.7706A>T (p.Asp2569Val)
c.7592A>T (p.Asp2531Val)
c.7427A>T (p.Asp2476Val)
c.5576A>T (p.Asp1859Val)
c.3266A>T (p.Asp1089Val)
n.7965A>T
18g.23915342C>ACA402058330LAMA3c.2871C>A (p.Asp957Glu)
c.7698C>A (p.Asp2566Glu)
c.4293C>A (p.Asp1431Glu)
c.7530C>A (p.Asp2510Glu)
c.2476C>A
c.2703C>A (p.Asp901Glu)
n.2276C>A
c.7725C>A (p.Asp2575Glu)
c.7716C>A (p.Asp2572Glu)
c.7707C>A (p.Asp2569Glu)
c.7593C>A (p.Asp2531Glu)
c.7428C>A (p.Asp2476Glu)
c.5577C>A (p.Asp1859Glu)
c.3267C>A (p.Asp1089Glu)
n.7966C>A
18g.23915342C>GCA402058327LAMA3c.2871C>G (p.Asp957Glu)
c.7698C>G (p.Asp2566Glu)
c.4293C>G (p.Asp1431Glu)
c.7530C>G (p.Asp2510Glu)
c.2476C>G
c.2703C>G (p.Asp901Glu)
n.2276C>G
c.7725C>G (p.Asp2575Glu)
c.7716C>G (p.Asp2572Glu)
c.7707C>G (p.Asp2569Glu)
c.7593C>G (p.Asp2531Glu)
c.7428C>G (p.Asp2476Glu)
c.5577C>G (p.Asp1859Glu)
c.3267C>G (p.Asp1089Glu)
n.7966C>G
18g.23915342C>TCA503339397LAMA3c.2871C>T (p.Asp957=)
c.7698C>T (p.Asp2566=)
c.4293C>T (p.Asp1431=)
c.7530C>T (p.Asp2510=)
c.2476C>T
c.2703C>T (p.Asp901=)
n.2276C>T
c.7725C>T (p.Asp2575=)
c.7716C>T (p.Asp2572=)
c.7707C>T (p.Asp2569=)
c.7593C>T (p.Asp2531=)
c.7428C>T (p.Asp2476=)
c.5577C>T (p.Asp1859=)
c.3267C>T (p.Asp1089=)
n.7966C>T
 gnomAD v4
18g.23915343C>ACA402058332LAMA3c.2872C>A (p.Leu958Ile)
c.7699C>A (p.Leu2567Ile)
c.4294C>A (p.Leu1432Ile)
c.7531C>A (p.Leu2511Ile)
c.2477C>A
c.2704C>A (p.Leu902Ile)
n.2277C>A
c.7726C>A (p.Leu2576Ile)
c.7717C>A (p.Leu2573Ile)
c.7708C>A (p.Leu2570Ile)
c.7594C>A (p.Leu2532Ile)
c.7429C>A (p.Leu2477Ile)
c.5578C>A (p.Leu1860Ile)
c.3268C>A (p.Leu1090Ile)
n.7967C>A
 gnomAD v4
18g.23915343C>GCA402058335LAMA3c.2872C>G (p.Leu958Val)
c.7699C>G (p.Leu2567Val)
c.4294C>G (p.Leu1432Val)
c.7531C>G (p.Leu2511Val)
c.2477C>G
c.2704C>G (p.Leu902Val)
n.2277C>G
c.7726C>G (p.Leu2576Val)
c.7717C>G (p.Leu2573Val)
c.7708C>G (p.Leu2570Val)
c.7594C>G (p.Leu2532Val)
c.7429C>G (p.Leu2477Val)
c.5578C>G (p.Leu1860Val)
c.3268C>G (p.Leu1090Val)
n.7967C>G
18g.23915343C>TCA402058336LAMA3c.2872C>T (p.Leu958Phe)
c.7699C>T (p.Leu2567Phe)
c.4294C>T (p.Leu1432Phe)
c.7531C>T (p.Leu2511Phe)
c.2477C>T
c.2704C>T (p.Leu902Phe)
n.2277C>T
c.7726C>T (p.Leu2576Phe)
c.7717C>T (p.Leu2573Phe)
c.7708C>T (p.Leu2570Phe)
c.7594C>T (p.Leu2532Phe)
c.7429C>T (p.Leu2477Phe)
c.5578C>T (p.Leu1860Phe)
c.3268C>T (p.Leu1090Phe)
n.7967C>T
 gnomAD v4
18g.23915344T>ACA402058343LAMA3c.2873T>A (p.Leu958His)
c.7700T>A (p.Leu2567His)
c.4295T>A (p.Leu1432His)
c.7532T>A (p.Leu2511His)
c.2478T>A
c.2705T>A (p.Leu902His)
n.2278T>A
c.7727T>A (p.Leu2576His)
c.7718T>A (p.Leu2573His)
c.7709T>A (p.Leu2570His)
c.7595T>A (p.Leu2532His)
c.7430T>A (p.Leu2477His)
c.5579T>A (p.Leu1860His)
c.3269T>A (p.Leu1090His)
n.7968T>A
18g.23915344T>CCA402058345LAMA3c.2873T>C (p.Leu958Pro)
c.7700T>C (p.Leu2567Pro)
c.4295T>C (p.Leu1432Pro)
c.7532T>C (p.Leu2511Pro)
c.2478T>C
c.2705T>C (p.Leu902Pro)
n.2278T>C
c.7727T>C (p.Leu2576Pro)
c.7718T>C (p.Leu2573Pro)
c.7709T>C (p.Leu2570Pro)
c.7595T>C (p.Leu2532Pro)
c.7430T>C (p.Leu2477Pro)
c.5579T>C (p.Leu1860Pro)
c.3269T>C (p.Leu1090Pro)
n.7968T>C
18g.23915344T>GCA402058347LAMA3c.2873T>G (p.Leu958Arg)
c.7700T>G (p.Leu2567Arg)
c.4295T>G (p.Leu1432Arg)
c.7532T>G (p.Leu2511Arg)
c.2478T>G
c.2705T>G (p.Leu902Arg)
n.2278T>G
c.7727T>G (p.Leu2576Arg)
c.7718T>G (p.Leu2573Arg)
c.7709T>G (p.Leu2570Arg)
c.7595T>G (p.Leu2532Arg)
c.7430T>G (p.Leu2477Arg)
c.5579T>G (p.Leu1860Arg)
c.3269T>G (p.Leu1090Arg)
n.7968T>G
18g.23915345C>ACA503339410LAMA3c.2874C>A (p.Leu958=)
c.7701C>A (p.Leu2567=)
c.4296C>A (p.Leu1432=)
c.7533C>A (p.Leu2511=)
c.2479C>A
c.2706C>A (p.Leu902=)
n.2279C>A
c.7728C>A (p.Leu2576=)
c.7719C>A (p.Leu2573=)
c.7710C>A (p.Leu2570=)
c.7596C>A (p.Leu2532=)
c.7431C>A (p.Leu2477=)
c.5580C>A (p.Leu1860=)
c.3270C>A (p.Leu1090=)
n.7969C>A
18g.23915345C=CA2290328947LAMA3c.2874C= (p.Leu958=)
c.7701C= (p.Leu2567=)
c.4296C= (p.Leu1432=)
c.7533C= (p.Leu2511=)
c.2479C=
c.2706C= (p.Leu902=)
n.2279C=
c.7728C= (p.Leu2576=)
c.7719C= (p.Leu2573=)
c.7710C= (p.Leu2570=)
c.7596C= (p.Leu2532=)
c.7431C= (p.Leu2477=)
c.5580C= (p.Leu1860=)
c.3270C= (p.Leu1090=)
n.7969C=
18g.23915345C>GCA503339412LAMA3c.2874C>G (p.Leu958=)
c.7701C>G (p.Leu2567=)
c.4296C>G (p.Leu1432=)
c.7533C>G (p.Leu2511=)
c.2479C>G
c.2706C>G (p.Leu902=)
n.2279C>G
c.7728C>G (p.Leu2576=)
c.7719C>G (p.Leu2573=)
c.7710C>G (p.Leu2570=)
c.7596C>G (p.Leu2532=)
c.7431C>G (p.Leu2477=)
c.5580C>G (p.Leu1860=)
c.3270C>G (p.Leu1090=)
n.7969C>G
18g.23915345C>TCA503339413LAMA3c.2874C>T (p.Leu958=)
c.7701C>T (p.Leu2567=)
c.4296C>T (p.Leu1432=)
c.7533C>T (p.Leu2511=)
c.2479C>T
c.2706C>T (p.Leu902=)
n.2279C>T
c.7728C>T (p.Leu2576=)
c.7719C>T (p.Leu2573=)
c.7710C>T (p.Leu2570=)
c.7596C>T (p.Leu2532=)
c.7431C>T (p.Leu2477=)
c.5580C>T (p.Leu1860=)
c.3270C>T (p.Leu1090=)
n.7969C>T
 ClinVar dbSNP gnomAD v4
18g.23915346A=CA2290328949LAMA3c.2875A= (p.Asn959=)
c.7702A= (p.Asn2568=)
c.4297A= (p.Asn1433=)
c.7534A= (p.Asn2512=)
c.2480A=
c.2707A= (p.Asn903=)
n.2280A=
c.7729A= (p.Asn2577=)
c.7720A= (p.Asn2574=)
c.7711A= (p.Asn2571=)
c.7597A= (p.Asn2533=)
c.7432A= (p.Asn2478=)
c.5581A= (p.Asn1861=)
c.3271A= (p.Asn1091=)
n.7970A=
18g.23915346A>CCA402058349LAMA3c.2875A>C (p.Asn959His)
c.7702A>C (p.Asn2568His)
c.4297A>C (p.Asn1433His)
c.7534A>C (p.Asn2512His)
c.2480A>C
c.2707A>C (p.Asn903His)
n.2280A>C
c.7729A>C (p.Asn2577His)
c.7720A>C (p.Asn2574His)
c.7711A>C (p.Asn2571His)
c.7597A>C (p.Asn2533His)
c.7432A>C (p.Asn2478His)
c.5581A>C (p.Asn1861His)
c.3271A>C (p.Asn1091His)
n.7970A>C
18g.23915346A>GCA8916722LAMA3c.2875A>G (p.Asn959Asp)
c.7702A>G (p.Asn2568Asp)
c.4297A>G (p.Asn1433Asp)
c.7534A>G (p.Asn2512Asp)
c.2480A>G
c.2707A>G (p.Asn903Asp)
n.2280A>G
c.7729A>G (p.Asn2577Asp)
c.7720A>G (p.Asn2574Asp)
c.7711A>G (p.Asn2571Asp)
c.7597A>G (p.Asn2533Asp)
c.7432A>G (p.Asn2478Asp)
c.5581A>G (p.Asn1861Asp)
c.3271A>G (p.Asn1091Asp)
n.7970A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915346A>TCA402058350LAMA3c.2875A>T (p.Asn959Tyr)
c.7702A>T (p.Asn2568Tyr)
c.4297A>T (p.Asn1433Tyr)
c.7534A>T (p.Asn2512Tyr)
c.2480A>T
c.2707A>T (p.Asn903Tyr)
n.2280A>T
c.7729A>T (p.Asn2577Tyr)
c.7720A>T (p.Asn2574Tyr)
c.7711A>T (p.Asn2571Tyr)
c.7597A>T (p.Asn2533Tyr)
c.7432A>T (p.Asn2478Tyr)
c.5581A>T (p.Asn1861Tyr)
c.3271A>T (p.Asn1091Tyr)
n.7970A>T
18g.23915347A=CA2290328951LAMA3c.2876A= (p.Asn959=)
c.7703A= (p.Asn2568=)
c.4298A= (p.Asn1433=)
c.7535A= (p.Asn2512=)
c.2481A=
c.2708A= (p.Asn903=)
n.2281A=
c.7730A= (p.Asn2577=)
c.7721A= (p.Asn2574=)
c.7712A= (p.Asn2571=)
c.7598A= (p.Asn2533=)
c.7433A= (p.Asn2478=)
c.5582A= (p.Asn1861=)
c.3272A= (p.Asn1091=)
n.7971A=
18g.23915347A>CCA402058352LAMA3c.2876A>C (p.Asn959Thr)
c.7703A>C (p.Asn2568Thr)
c.4298A>C (p.Asn1433Thr)
c.7535A>C (p.Asn2512Thr)
c.2481A>C
c.2708A>C (p.Asn903Thr)
n.2281A>C
c.7730A>C (p.Asn2577Thr)
c.7721A>C (p.Asn2574Thr)
c.7712A>C (p.Asn2571Thr)
c.7598A>C (p.Asn2533Thr)
c.7433A>C (p.Asn2478Thr)
c.5582A>C (p.Asn1861Thr)
c.3272A>C (p.Asn1091Thr)
n.7971A>C
 gnomAD v4
18g.23915347A>GCA8916723LAMA3c.2876A>G (p.Asn959Ser)
c.7703A>G (p.Asn2568Ser)
c.4298A>G (p.Asn1433Ser)
c.7535A>G (p.Asn2512Ser)
c.2481A>G
c.2708A>G (p.Asn903Ser)
n.2281A>G
c.7730A>G (p.Asn2577Ser)
c.7721A>G (p.Asn2574Ser)
c.7712A>G (p.Asn2571Ser)
c.7598A>G (p.Asn2533Ser)
c.7433A>G (p.Asn2478Ser)
c.5582A>G (p.Asn1861Ser)
c.3272A>G (p.Asn1091Ser)
n.7971A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915347A>TCA402058356LAMA3c.2876A>T (p.Asn959Ile)
c.7703A>T (p.Asn2568Ile)
c.4298A>T (p.Asn1433Ile)
c.7535A>T (p.Asn2512Ile)
c.2481A>T
c.2708A>T (p.Asn903Ile)
n.2281A>T
c.7730A>T (p.Asn2577Ile)
c.7721A>T (p.Asn2574Ile)
c.7712A>T (p.Asn2571Ile)
c.7598A>T (p.Asn2533Ile)
c.7433A>T (p.Asn2478Ile)
c.5582A>T (p.Asn1861Ile)
c.3272A>T (p.Asn1091Ile)
n.7971A>T
18g.23915348T>ACA402058359LAMA3c.2877T>A (p.Asn959Lys)
c.7704T>A (p.Asn2568Lys)
c.4299T>A (p.Asn1433Lys)
c.7536T>A (p.Asn2512Lys)
c.2482T>A
c.2709T>A (p.Asn903Lys)
n.2282T>A
c.7731T>A (p.Asn2577Lys)
c.7722T>A (p.Asn2574Lys)
c.7713T>A (p.Asn2571Lys)
c.7599T>A (p.Asn2533Lys)
c.7434T>A (p.Asn2478Lys)
c.5583T>A (p.Asn1861Lys)
c.3273T>A (p.Asn1091Lys)
n.7972T>A
18g.23915348T>CCA8916724LAMA3c.2877T>C (p.Asn959=)
c.7704T>C (p.Asn2568=)
c.4299T>C (p.Asn1433=)
c.7536T>C (p.Asn2512=)
c.2482T>C
c.2709T>C (p.Asn903=)
n.2282T>C
c.7731T>C (p.Asn2577=)
c.7722T>C (p.Asn2574=)
c.7713T>C (p.Asn2571=)
c.7599T>C (p.Asn2533=)
c.7434T>C (p.Asn2478=)
c.5583T>C (p.Asn1861=)
c.3273T>C (p.Asn1091=)
n.7972T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915348T>GCA402058362LAMA3c.2877T>G (p.Asn959Lys)
c.7704T>G (p.Asn2568Lys)
c.4299T>G (p.Asn1433Lys)
c.7536T>G (p.Asn2512Lys)
c.2482T>G
c.2709T>G (p.Asn903Lys)
n.2282T>G
c.7731T>G (p.Asn2577Lys)
c.7722T>G (p.Asn2574Lys)
c.7713T>G (p.Asn2571Lys)
c.7599T>G (p.Asn2533Lys)
c.7434T>G (p.Asn2478Lys)
c.5583T>G (p.Asn1861Lys)
c.3273T>G (p.Asn1091Lys)
n.7972T>G
18g.23915348T=CA2290328953LAMA3c.2877T= (p.Asn959=)
c.7704T= (p.Asn2568=)
c.4299T= (p.Asn1433=)
c.7536T= (p.Asn2512=)
c.2482T=
c.2709T= (p.Asn903=)
n.2282T=
c.7731T= (p.Asn2577=)
c.7722T= (p.Asn2574=)
c.7713T= (p.Asn2571=)
c.7599T= (p.Asn2533=)
c.7434T= (p.Asn2478=)
c.5583T= (p.Asn1861=)
c.3273T= (p.Asn1091=)
n.7972T=
18g.23915349G>ACA402058365LAMA3c.2878G>A (p.Glu960Lys)
c.7705G>A (p.Glu2569Lys)
c.4300G>A (p.Glu1434Lys)
c.7537G>A (p.Glu2513Lys)
c.2483G>A
c.2710G>A (p.Glu904Lys)
n.2283G>A
c.7732G>A (p.Glu2578Lys)
c.7723G>A (p.Glu2575Lys)
c.7714G>A (p.Glu2572Lys)
c.7600G>A (p.Glu2534Lys)
c.7435G>A (p.Glu2479Lys)
c.5584G>A (p.Glu1862Lys)
c.3274G>A (p.Glu1092Lys)
n.7973G>A
 gnomAD v4
18g.23915349G>CCA402058366LAMA3c.2878G>C (p.Glu960Gln)
c.7705G>C (p.Glu2569Gln)
c.4300G>C (p.Glu1434Gln)
c.7537G>C (p.Glu2513Gln)
c.2483G>C
c.2710G>C (p.Glu904Gln)
n.2283G>C
c.7732G>C (p.Glu2578Gln)
c.7723G>C (p.Glu2575Gln)
c.7714G>C (p.Glu2572Gln)
c.7600G>C (p.Glu2534Gln)
c.7435G>C (p.Glu2479Gln)
c.5584G>C (p.Glu1862Gln)
c.3274G>C (p.Glu1092Gln)
n.7973G>C
18g.23915349G>TCA402058368LAMA3c.2878G>T (p.Glu960Ter)
c.7705G>T (p.Glu2569Ter)
c.4300G>T (p.Glu1434Ter)
c.7537G>T (p.Glu2513Ter)
c.2483G>T
c.2710G>T (p.Glu904Ter)
n.2283G>T
c.7732G>T (p.Glu2578Ter)
c.7723G>T (p.Glu2575Ter)
c.7714G>T (p.Glu2572Ter)
c.7600G>T (p.Glu2534Ter)
c.7435G>T (p.Glu2479Ter)
c.5584G>T (p.Glu1862Ter)
c.3274G>T (p.Glu1092Ter)
n.7973G>T
18g.23915350A>CCA402059189LAMA3c.2879A>C (p.Glu960Ala)
c.7706A>C (p.Glu2569Ala)
c.4301A>C (p.Glu1434Ala)
c.7538A>C (p.Glu2513Ala)
c.2484A>C
c.2711A>C (p.Glu904Ala)
n.2284A>C
c.7733A>C (p.Glu2578Ala)
c.7724A>C (p.Glu2575Ala)
c.7715A>C (p.Glu2572Ala)
c.7601A>C (p.Glu2534Ala)
c.7436A>C (p.Glu2479Ala)
c.5585A>C (p.Glu1862Ala)
c.3275A>C (p.Glu1092Ala)
n.7974A>C
18g.23915350A>GCA402059191LAMA3c.2879A>G (p.Glu960Gly)
c.7706A>G (p.Glu2569Gly)
c.4301A>G (p.Glu1434Gly)
c.7538A>G (p.Glu2513Gly)
c.2484A>G
c.2711A>G (p.Glu904Gly)
n.2284A>G
c.7733A>G (p.Glu2578Gly)
c.7724A>G (p.Glu2575Gly)
c.7715A>G (p.Glu2572Gly)
c.7601A>G (p.Glu2534Gly)
c.7436A>G (p.Glu2479Gly)
c.5585A>G (p.Glu1862Gly)
c.3275A>G (p.Glu1092Gly)
n.7974A>G
18g.23915350A>TCA402059192LAMA3c.2879A>T (p.Glu960Val)
c.7706A>T (p.Glu2569Val)
c.4301A>T (p.Glu1434Val)
c.7538A>T (p.Glu2513Val)
c.2484A>T
c.2711A>T (p.Glu904Val)
n.2284A>T
c.7733A>T (p.Glu2578Val)
c.7724A>T (p.Glu2575Val)
c.7715A>T (p.Glu2572Val)
c.7601A>T (p.Glu2534Val)
c.7436A>T (p.Glu2479Val)
c.5585A>T (p.Glu1862Val)
c.3275A>T (p.Glu1092Val)
n.7974A>T
18g.23915351A>CCA402059194LAMA3c.2880A>C (p.Glu960Asp)
c.7707A>C (p.Glu2569Asp)
c.4302A>C (p.Glu1434Asp)
c.7539A>C (p.Glu2513Asp)
c.2485A>C
c.2712A>C (p.Glu904Asp)
n.2285A>C
c.7734A>C (p.Glu2578Asp)
c.7725A>C (p.Glu2575Asp)
c.7716A>C (p.Glu2572Asp)
c.7602A>C (p.Glu2534Asp)
c.7437A>C (p.Glu2479Asp)
c.5586A>C (p.Glu1862Asp)
c.3276A>C (p.Glu1092Asp)
n.7975A>C
18g.23915351A>GCA503339667LAMA3c.2880A>G (p.Glu960=)
c.7707A>G (p.Glu2569=)
c.4302A>G (p.Glu1434=)
c.7539A>G (p.Glu2513=)
c.2485A>G
c.2712A>G (p.Glu904=)
n.2285A>G
c.7734A>G (p.Glu2578=)
c.7725A>G (p.Glu2575=)
c.7716A>G (p.Glu2572=)
c.7602A>G (p.Glu2534=)
c.7437A>G (p.Glu2479=)
c.5586A>G (p.Glu1862=)
c.3276A>G (p.Glu1092=)
n.7975A>G
18g.23915351A>TCA402059196LAMA3c.2880A>T (p.Glu960Asp)
c.7707A>T (p.Glu2569Asp)
c.4302A>T (p.Glu1434Asp)
c.7539A>T (p.Glu2513Asp)
c.2485A>T
c.2712A>T (p.Glu904Asp)
n.2285A>T
c.7734A>T (p.Glu2578Asp)
c.7725A>T (p.Glu2575Asp)
c.7716A>T (p.Glu2572Asp)
c.7602A>T (p.Glu2534Asp)
c.7437A>T (p.Glu2479Asp)
c.5586A>T (p.Glu1862Asp)
c.3276A>T (p.Glu1092Asp)
n.7975A>T
 gnomAD v4
18g.23915352A>CCA402059199LAMA3c.2881A>C (p.Asn961His)
c.7708A>C (p.Asn2570His)
c.4303A>C (p.Asn1435His)
c.7540A>C (p.Asn2514His)
c.2486A>C
c.2713A>C (p.Asn905His)
n.2286A>C
c.7735A>C (p.Asn2579His)
c.7726A>C (p.Asn2576His)
c.7717A>C (p.Asn2573His)
c.7603A>C (p.Asn2535His)
c.7438A>C (p.Asn2480His)
c.5587A>C (p.Asn1863His)
c.3277A>C (p.Asn1093His)
n.7976A>C
18g.23915352A>GCA402059201LAMA3c.2881A>G (p.Asn961Asp)
c.7708A>G (p.Asn2570Asp)
c.4303A>G (p.Asn1435Asp)
c.7540A>G (p.Asn2514Asp)
c.2486A>G
c.2713A>G (p.Asn905Asp)
n.2286A>G
c.7735A>G (p.Asn2579Asp)
c.7726A>G (p.Asn2576Asp)
c.7717A>G (p.Asn2573Asp)
c.7603A>G (p.Asn2535Asp)
c.7438A>G (p.Asn2480Asp)
c.5587A>G (p.Asn1863Asp)
c.3277A>G (p.Asn1093Asp)
n.7976A>G
18g.23915352A>TCA402059202LAMA3c.2881A>T (p.Asn961Tyr)
c.7708A>T (p.Asn2570Tyr)
c.4303A>T (p.Asn1435Tyr)
c.7540A>T (p.Asn2514Tyr)
c.2486A>T
c.2713A>T (p.Asn905Tyr)
n.2286A>T
c.7735A>T (p.Asn2579Tyr)
c.7726A>T (p.Asn2576Tyr)
c.7717A>T (p.Asn2573Tyr)
c.7603A>T (p.Asn2535Tyr)
c.7438A>T (p.Asn2480Tyr)
c.5587A>T (p.Asn1863Tyr)
c.3277A>T (p.Asn1093Tyr)
n.7976A>T
18g.23915353A>CCA402059204LAMA3c.2882A>C (p.Asn961Thr)
c.7709A>C (p.Asn2570Thr)
c.4304A>C (p.Asn1435Thr)
c.7541A>C (p.Asn2514Thr)
c.2487A>C
c.2714A>C (p.Asn905Thr)
n.2287A>C
c.7736A>C (p.Asn2579Thr)
c.7727A>C (p.Asn2576Thr)
c.7718A>C (p.Asn2573Thr)
c.7604A>C (p.Asn2535Thr)
c.7439A>C (p.Asn2480Thr)
c.5588A>C (p.Asn1863Thr)
c.3278A>C (p.Asn1093Thr)
n.7977A>C
 gnomAD v4
18g.23915353A>GCA402059205LAMA3c.2882A>G (p.Asn961Ser)
c.7709A>G (p.Asn2570Ser)
c.4304A>G (p.Asn1435Ser)
c.7541A>G (p.Asn2514Ser)
c.2487A>G
c.2714A>G (p.Asn905Ser)
n.2287A>G
c.7736A>G (p.Asn2579Ser)
c.7727A>G (p.Asn2576Ser)
c.7718A>G (p.Asn2573Ser)
c.7604A>G (p.Asn2535Ser)
c.7439A>G (p.Asn2480Ser)
c.5588A>G (p.Asn1863Ser)
c.3278A>G (p.Asn1093Ser)
n.7977A>G
 gnomAD v4
18g.23915353A>TCA402059206LAMA3c.2882A>T (p.Asn961Ile)
c.7709A>T (p.Asn2570Ile)
c.4304A>T (p.Asn1435Ile)
c.7541A>T (p.Asn2514Ile)
c.2487A>T
c.2714A>T (p.Asn905Ile)
n.2287A>T
c.7736A>T (p.Asn2579Ile)
c.7727A>T (p.Asn2576Ile)
c.7718A>T (p.Asn2573Ile)
c.7604A>T (p.Asn2535Ile)
c.7439A>T (p.Asn2480Ile)
c.5588A>T (p.Asn1863Ile)
c.3278A>T (p.Asn1093Ile)
n.7977A>T
18g.23915354T>ACA8916725LAMA3c.2883T>A (p.Asn961Lys)
c.7710T>A (p.Asn2570Lys)
c.4305T>A (p.Asn1435Lys)
c.7542T>A (p.Asn2514Lys)
c.2488T>A
c.2715T>A (p.Asn905Lys)
n.2288T>A
c.7737T>A (p.Asn2579Lys)
c.7728T>A (p.Asn2576Lys)
c.7719T>A (p.Asn2573Lys)
c.7605T>A (p.Asn2535Lys)
c.7440T>A (p.Asn2480Lys)
c.5589T>A (p.Asn1863Lys)
c.3279T>A (p.Asn1093Lys)
n.7978T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23915354T>CCA503339669LAMA3c.2883T>C (p.Asn961=)
c.7710T>C (p.Asn2570=)
c.4305T>C (p.Asn1435=)
c.7542T>C (p.Asn2514=)
c.2488T>C
c.2715T>C (p.Asn905=)
n.2288T>C
c.7737T>C (p.Asn2579=)
c.7728T>C (p.Asn2576=)
c.7719T>C (p.Asn2573=)
c.7605T>C (p.Asn2535=)
c.7440T>C (p.Asn2480=)
c.5589T>C (p.Asn1863=)
c.3279T>C (p.Asn1093=)
n.7978T>C
18g.23915354T>GCA402059208LAMA3c.2883T>G (p.Asn961Lys)
c.7710T>G (p.Asn2570Lys)
c.4305T>G (p.Asn1435Lys)
c.7542T>G (p.Asn2514Lys)
c.2488T>G
c.2715T>G (p.Asn905Lys)
n.2288T>G
c.7737T>G (p.Asn2579Lys)
c.7728T>G (p.Asn2576Lys)
c.7719T>G (p.Asn2573Lys)
c.7605T>G (p.Asn2535Lys)
c.7440T>G (p.Asn2480Lys)
c.5589T>G (p.Asn1863Lys)
c.3279T>G (p.Asn1093Lys)
n.7978T>G
18g.23915354T=CA2290328955LAMA3c.2883T= (p.Asn961=)
c.7710T= (p.Asn2570=)
c.4305T= (p.Asn1435=)
c.7542T= (p.Asn2514=)
c.2488T=
c.2715T= (p.Asn905=)
n.2288T=
c.7737T= (p.Asn2579=)
c.7728T= (p.Asn2576=)
c.7719T= (p.Asn2573=)
c.7605T= (p.Asn2535=)
c.7440T= (p.Asn2480=)
c.5589T= (p.Asn1863=)
c.3279T= (p.Asn1093=)
n.7978T=
18g.23915355G>ACA8916726LAMA3c.2884G>A (p.Val962Ile)
c.7711G>A (p.Val2571Ile)
c.4306G>A (p.Val1436Ile)
c.7543G>A (p.Val2515Ile)
c.2489G>A
c.2716G>A (p.Val906Ile)
n.2289G>A
c.7738G>A (p.Val2580Ile)
c.7729G>A (p.Val2577Ile)
c.7720G>A (p.Val2574Ile)
c.7606G>A (p.Val2536Ile)
c.7441G>A (p.Val2481Ile)
c.5590G>A (p.Val1864Ile)
c.3280G>A (p.Val1094Ile)
n.7979G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23915355G>CCA402059210LAMA3c.2884G>C (p.Val962Leu)
c.7711G>C (p.Val2571Leu)
c.4306G>C (p.Val1436Leu)
c.7543G>C (p.Val2515Leu)
c.2489G>C
c.2716G>C (p.Val906Leu)
n.2289G>C
c.7738G>C (p.Val2580Leu)
c.7729G>C (p.Val2577Leu)
c.7720G>C (p.Val2574Leu)
c.7606G>C (p.Val2536Leu)
c.7441G>C (p.Val2481Leu)
c.5590G>C (p.Val1864Leu)
c.3280G>C (p.Val1094Leu)
n.7979G>C
18g.23915355G=CA2290328957LAMA3c.2884G= (p.Val962=)
c.7711G= (p.Val2571=)
c.4306G= (p.Val1436=)
c.7543G= (p.Val2515=)
c.2489G=
c.2716G= (p.Val906=)
n.2289G=
c.7738G= (p.Val2580=)
c.7729G= (p.Val2577=)
c.7720G= (p.Val2574=)
c.7606G= (p.Val2536=)
c.7441G= (p.Val2481=)
c.5590G= (p.Val1864=)
c.3280G= (p.Val1094=)
n.7979G=
18g.23915355G>TCA402059211LAMA3c.2884G>T (p.Val962Phe)
c.7711G>T (p.Val2571Phe)
c.4306G>T (p.Val1436Phe)
c.7543G>T (p.Val2515Phe)
c.2489G>T
c.2716G>T (p.Val906Phe)
n.2289G>T
c.7738G>T (p.Val2580Phe)
c.7729G>T (p.Val2577Phe)
c.7720G>T (p.Val2574Phe)
c.7606G>T (p.Val2536Phe)
c.7441G>T (p.Val2481Phe)
c.5590G>T (p.Val1864Phe)
c.3280G>T (p.Val1094Phe)
n.7979G>T

Number of alleles fetched