Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23949967_23950028delCA2641299253LAMA3c.4684+43_4685-1del (n.4684+43_4685-1del)
c.9511+43_9512-1del (n.9511+43_9512-1del)
c.6106+43_6107-1del (n.6106+43_6107-1del)
c.9343+43_9344-1del (n.9343+43_9344-1del)
c.4516+43_4517-1del (n.4516+43_4517-1del)
c.32+43_33-1del
n.4089+43_4090-1del
c.9538+43_9539-1del (n.9538+43_9539-1del)
c.9529+43_9530-1del (n.9529+43_9530-1del)
c.9520+43_9521-1del (n.9520+43_9521-1del)
c.9406+43_9407-1del (n.9406+43_9407-1del)
c.9241+43_9242-1del (n.9241+43_9242-1del)
c.7390+43_7391-1del (n.7390+43_7391-1del)
c.5080+43_5081-1del (n.5080+43_5081-1del)
n.9779+43_9780-1del
 gnomAD v4
18g.23950009C=CA2290343987LAMA3c.4685-20C= (n.4685-20C=)
c.9512-20C= (n.9512-20C=)
c.6107-20C= (n.6107-20C=)
c.9344-20C= (n.9344-20C=)
c.4517-20C= (n.4517-20C=)
c.33-20C=
n.4090-20C=
c.9539-20C= (n.9539-20C=)
c.9530-20C= (n.9530-20C=)
c.9521-20C= (n.9521-20C=)
c.9407-20C= (n.9407-20C=)
c.9242-20C= (n.9242-20C=)
c.7391-20C= (n.7391-20C=)
c.5081-20C= (n.5081-20C=)
n.9780-20C=
18g.23950009C>GCA2641299269LAMA3c.4685-20C>G (n.4685-20C>G)
c.9512-20C>G (n.9512-20C>G)
c.6107-20C>G (n.6107-20C>G)
c.9344-20C>G (n.9344-20C>G)
c.4517-20C>G (n.4517-20C>G)
c.33-20C>G
n.4090-20C>G
c.9539-20C>G (n.9539-20C>G)
c.9530-20C>G (n.9530-20C>G)
c.9521-20C>G (n.9521-20C>G)
c.9407-20C>G (n.9407-20C>G)
c.9242-20C>G (n.9242-20C>G)
c.7391-20C>G (n.7391-20C>G)
c.5081-20C>G (n.5081-20C>G)
n.9780-20C>G
 gnomAD v4
18g.23950009C>TCA777748578LAMA3c.4685-20C>T (n.4685-20C>T)
c.9512-20C>T (n.9512-20C>T)
c.6107-20C>T (n.6107-20C>T)
c.9344-20C>T (n.9344-20C>T)
c.4517-20C>T (n.4517-20C>T)
c.33-20C>T
n.4090-20C>T
c.9539-20C>T (n.9539-20C>T)
c.9530-20C>T (n.9530-20C>T)
c.9521-20C>T (n.9521-20C>T)
c.9407-20C>T (n.9407-20C>T)
c.9242-20C>T (n.9242-20C>T)
c.7391-20C>T (n.7391-20C>T)
c.5081-20C>T (n.5081-20C>T)
n.9780-20C>T
 dbSNP gnomAD v3 gnomAD v4
18g.23950011_23950012dupCA777748584LAMA3c.4685-18_4685-17dup (n.4685-18_4685-17dup)
c.9512-18_9512-17dup (n.9512-18_9512-17dup)
c.6107-18_6107-17dup (n.6107-18_6107-17dup)
c.9344-18_9344-17dup (n.9344-18_9344-17dup)
c.4517-18_4517-17dup (n.4517-18_4517-17dup)
c.33-18_33-17dup
n.4090-18_4090-17dup
c.9539-18_9539-17dup (n.9539-18_9539-17dup)
c.9530-18_9530-17dup (n.9530-18_9530-17dup)
c.9521-18_9521-17dup (n.9521-18_9521-17dup)
c.9407-18_9407-17dup (n.9407-18_9407-17dup)
c.9242-18_9242-17dup (n.9242-18_9242-17dup)
c.7391-18_7391-17dup (n.7391-18_7391-17dup)
c.5081-18_5081-17dup (n.5081-18_5081-17dup)
n.9780-18_9780-17dup
 dbSNP gnomAD v3 gnomAD v4
18g.23950011T>ACA2641299270LAMA3c.4685-18T>A (n.4685-18T>A)
c.9512-18T>A (n.9512-18T>A)
c.6107-18T>A (n.6107-18T>A)
c.9344-18T>A (n.9344-18T>A)
c.4517-18T>A (n.4517-18T>A)
c.33-18T>A
n.4090-18T>A
c.9539-18T>A (n.9539-18T>A)
c.9530-18T>A (n.9530-18T>A)
c.9521-18T>A (n.9521-18T>A)
c.9407-18T>A (n.9407-18T>A)
c.9242-18T>A (n.9242-18T>A)
c.7391-18T>A (n.7391-18T>A)
c.5081-18T>A (n.5081-18T>A)
n.9780-18T>A
 gnomAD v4
18g.23950015T>CCA8917214LAMA3c.4685-14T>C (n.4685-14T>C)
c.9512-14T>C (n.9512-14T>C)
c.6107-14T>C (n.6107-14T>C)
c.9344-14T>C (n.9344-14T>C)
c.4517-14T>C (n.4517-14T>C)
c.33-14T>C
n.4090-14T>C
c.9539-14T>C (n.9539-14T>C)
c.9530-14T>C (n.9530-14T>C)
c.9521-14T>C (n.9521-14T>C)
c.9407-14T>C (n.9407-14T>C)
c.9242-14T>C (n.9242-14T>C)
c.7391-14T>C (n.7391-14T>C)
c.5081-14T>C (n.5081-14T>C)
n.9780-14T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23950015T=CA2290343990LAMA3c.4685-14T= (n.4685-14T=)
c.9512-14T= (n.9512-14T=)
c.6107-14T= (n.6107-14T=)
c.9344-14T= (n.9344-14T=)
c.4517-14T= (n.4517-14T=)
c.33-14T=
n.4090-14T=
c.9539-14T= (n.9539-14T=)
c.9530-14T= (n.9530-14T=)
c.9521-14T= (n.9521-14T=)
c.9407-14T= (n.9407-14T=)
c.9242-14T= (n.9242-14T=)
c.7391-14T= (n.7391-14T=)
c.5081-14T= (n.5081-14T=)
n.9780-14T=
18g.23950016T>CCA2641299271LAMA3c.4685-13T>C (n.4685-13T>C)
c.9512-13T>C (n.9512-13T>C)
c.6107-13T>C (n.6107-13T>C)
c.9344-13T>C (n.9344-13T>C)
c.4517-13T>C (n.4517-13T>C)
c.33-13T>C
n.4090-13T>C
c.9539-13T>C (n.9539-13T>C)
c.9530-13T>C (n.9530-13T>C)
c.9521-13T>C (n.9521-13T>C)
c.9407-13T>C (n.9407-13T>C)
c.9242-13T>C (n.9242-13T>C)
c.7391-13T>C (n.7391-13T>C)
c.5081-13T>C (n.5081-13T>C)
n.9780-13T>C
 gnomAD v4
18g.23950018T>CCA8917215LAMA3c.4685-11T>C (n.4685-11T>C)
c.9512-11T>C (n.9512-11T>C)
c.6107-11T>C (n.6107-11T>C)
c.9344-11T>C (n.9344-11T>C)
c.4517-11T>C (n.4517-11T>C)
c.33-11T>C
n.4090-11T>C
c.9539-11T>C (n.9539-11T>C)
c.9530-11T>C (n.9530-11T>C)
c.9521-11T>C (n.9521-11T>C)
c.9407-11T>C (n.9407-11T>C)
c.9242-11T>C (n.9242-11T>C)
c.7391-11T>C (n.7391-11T>C)
c.5081-11T>C (n.5081-11T>C)
n.9780-11T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23950018T=CA2290343992LAMA3c.4685-11T= (n.4685-11T=)
c.9512-11T= (n.9512-11T=)
c.6107-11T= (n.6107-11T=)
c.9344-11T= (n.9344-11T=)
c.4517-11T= (n.4517-11T=)
c.33-11T=
n.4090-11T=
c.9539-11T= (n.9539-11T=)
c.9530-11T= (n.9530-11T=)
c.9521-11T= (n.9521-11T=)
c.9407-11T= (n.9407-11T=)
c.9242-11T= (n.9242-11T=)
c.7391-11T= (n.7391-11T=)
c.5081-11T= (n.5081-11T=)
n.9780-11T=
18g.23950020T>CCA2576473397LAMA3c.4685-9T>C (n.4685-9T>C)
c.9512-9T>C (n.9512-9T>C)
c.6107-9T>C (n.6107-9T>C)
c.9344-9T>C (n.9344-9T>C)
c.4517-9T>C (n.4517-9T>C)
c.33-9T>C
n.4090-9T>C
c.9539-9T>C (n.9539-9T>C)
c.9530-9T>C (n.9530-9T>C)
c.9521-9T>C (n.9521-9T>C)
c.9407-9T>C (n.9407-9T>C)
c.9242-9T>C (n.9242-9T>C)
c.7391-9T>C (n.7391-9T>C)
c.5081-9T>C (n.5081-9T>C)
n.9780-9T>C
 ClinVar gnomAD v4
18g.23950022T>ACA297100316LAMA3c.4685-7T>A (n.4685-7T>A)
c.9512-7T>A (n.9512-7T>A)
c.6107-7T>A (n.6107-7T>A)
c.9344-7T>A (n.9344-7T>A)
c.4517-7T>A (n.4517-7T>A)
c.33-7T>A
n.4090-7T>A
c.9539-7T>A (n.9539-7T>A)
c.9530-7T>A (n.9530-7T>A)
c.9521-7T>A (n.9521-7T>A)
c.9407-7T>A (n.9407-7T>A)
c.9242-7T>A (n.9242-7T>A)
c.7391-7T>A (n.7391-7T>A)
c.5081-7T>A (n.5081-7T>A)
n.9780-7T>A
 dbSNP
18g.23950022T>CCA2290343995LAMA3c.4685-7T>C (n.4685-7T>C)
c.9512-7T>C (n.9512-7T>C)
c.6107-7T>C (n.6107-7T>C)
c.9344-7T>C (n.9344-7T>C)
c.4517-7T>C (n.4517-7T>C)
c.33-7T>C
n.4090-7T>C
c.9539-7T>C (n.9539-7T>C)
c.9530-7T>C (n.9530-7T>C)
c.9521-7T>C (n.9521-7T>C)
c.9407-7T>C (n.9407-7T>C)
c.9242-7T>C (n.9242-7T>C)
c.7391-7T>C (n.7391-7T>C)
c.5081-7T>C (n.5081-7T>C)
n.9780-7T>C
 ClinVar dbSNP
18g.23950022T=CA2290343994LAMA3c.4685-7T= (n.4685-7T=)
c.9512-7T= (n.9512-7T=)
c.6107-7T= (n.6107-7T=)
c.9344-7T= (n.9344-7T=)
c.4517-7T= (n.4517-7T=)
c.33-7T=
n.4090-7T=
c.9539-7T= (n.9539-7T=)
c.9530-7T= (n.9530-7T=)
c.9521-7T= (n.9521-7T=)
c.9407-7T= (n.9407-7T=)
c.9242-7T= (n.9242-7T=)
c.7391-7T= (n.7391-7T=)
c.5081-7T= (n.5081-7T=)
n.9780-7T=
18g.23950024G>ACA2499225092LAMA3c.4685-5G>A (n.4685-5G>A)
c.9512-5G>A (n.9512-5G>A)
c.6107-5G>A (n.6107-5G>A)
c.9344-5G>A (n.9344-5G>A)
c.4517-5G>A (n.4517-5G>A)
c.33-5G>A
n.4090-5G>A
c.9539-5G>A (n.9539-5G>A)
c.9530-5G>A (n.9530-5G>A)
c.9521-5G>A (n.9521-5G>A)
c.9407-5G>A (n.9407-5G>A)
c.9242-5G>A (n.9242-5G>A)
c.7391-5G>A (n.7391-5G>A)
c.5081-5G>A (n.5081-5G>A)
n.9780-5G>A
 ClinVar dbSNP
18g.23950025A=CA2290343997LAMA3c.4685-4A= (n.4685-4A=)
c.9512-4A= (n.9512-4A=)
c.6107-4A= (n.6107-4A=)
c.9344-4A= (n.9344-4A=)
c.4517-4A= (n.4517-4A=)
c.33-4A=
n.4090-4A=
c.9539-4A= (n.9539-4A=)
c.9530-4A= (n.9530-4A=)
c.9521-4A= (n.9521-4A=)
c.9407-4A= (n.9407-4A=)
c.9242-4A= (n.9242-4A=)
c.7391-4A= (n.7391-4A=)
c.5081-4A= (n.5081-4A=)
n.9780-4A=
18g.23950025A>TCA8917216LAMA3c.4685-4A>T (n.4685-4A>T)
c.9512-4A>T (n.9512-4A>T)
c.6107-4A>T (n.6107-4A>T)
c.9344-4A>T (n.9344-4A>T)
c.4517-4A>T (n.4517-4A>T)
c.33-4A>T
n.4090-4A>T
c.9539-4A>T (n.9539-4A>T)
c.9530-4A>T (n.9530-4A>T)
c.9521-4A>T (n.9521-4A>T)
c.9407-4A>T (n.9407-4A>T)
c.9242-4A>T (n.9242-4A>T)
c.7391-4A>T (n.7391-4A>T)
c.5081-4A>T (n.5081-4A>T)
n.9780-4A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23950027A>CCA402051864LAMA3c.4685-2A>C (n.4685-2A>C)
c.9512-2A>C (n.9512-2A>C)
c.6107-2A>C (n.6107-2A>C)
c.9344-2A>C (n.9344-2A>C)
c.4517-2A>C (n.4517-2A>C)
c.33-2A>C
n.4090-2A>C
c.9539-2A>C (n.9539-2A>C)
c.9530-2A>C (n.9530-2A>C)
c.9521-2A>C (n.9521-2A>C)
c.9407-2A>C (n.9407-2A>C)
c.9242-2A>C (n.9242-2A>C)
c.7391-2A>C (n.7391-2A>C)
c.5081-2A>C (n.5081-2A>C)
n.9780-2A>C
18g.23950027A>GCA402051865LAMA3c.4685-2A>G (n.4685-2A>G)
c.9512-2A>G (n.9512-2A>G)
c.6107-2A>G (n.6107-2A>G)
c.9344-2A>G (n.9344-2A>G)
c.4517-2A>G (n.4517-2A>G)
c.33-2A>G
n.4090-2A>G
c.9539-2A>G (n.9539-2A>G)
c.9530-2A>G (n.9530-2A>G)
c.9521-2A>G (n.9521-2A>G)
c.9407-2A>G (n.9407-2A>G)
c.9242-2A>G (n.9242-2A>G)
c.7391-2A>G (n.7391-2A>G)
c.5081-2A>G (n.5081-2A>G)
n.9780-2A>G
 ClinVar
18g.23950027A>TCA402051866LAMA3c.4685-2A>T (n.4685-2A>T)
c.9512-2A>T (n.9512-2A>T)
c.6107-2A>T (n.6107-2A>T)
c.9344-2A>T (n.9344-2A>T)
c.4517-2A>T (n.4517-2A>T)
c.33-2A>T
n.4090-2A>T
c.9539-2A>T (n.9539-2A>T)
c.9530-2A>T (n.9530-2A>T)
c.9521-2A>T (n.9521-2A>T)
c.9407-2A>T (n.9407-2A>T)
c.9242-2A>T (n.9242-2A>T)
c.7391-2A>T (n.7391-2A>T)
c.5081-2A>T (n.5081-2A>T)
n.9780-2A>T
18g.23950028G>ACA402051867LAMA3c.4685-1G>A (n.4685-1G>A)
c.9512-1G>A (n.9512-1G>A)
c.6107-1G>A (n.6107-1G>A)
c.9344-1G>A (n.9344-1G>A)
c.4517-1G>A (n.4517-1G>A)
c.33-1G>A
n.4090-1G>A
c.9539-1G>A (n.9539-1G>A)
c.9530-1G>A (n.9530-1G>A)
c.9521-1G>A (n.9521-1G>A)
c.9407-1G>A (n.9407-1G>A)
c.9242-1G>A (n.9242-1G>A)
c.7391-1G>A (n.7391-1G>A)
c.5081-1G>A (n.5081-1G>A)
n.9780-1G>A
18g.23950028G>CCA402051868LAMA3c.4685-1G>C (n.4685-1G>C)
c.9512-1G>C (n.9512-1G>C)
c.6107-1G>C (n.6107-1G>C)
c.9344-1G>C (n.9344-1G>C)
c.4517-1G>C (n.4517-1G>C)
c.33-1G>C
n.4090-1G>C
c.9539-1G>C (n.9539-1G>C)
c.9530-1G>C (n.9530-1G>C)
c.9521-1G>C (n.9521-1G>C)
c.9407-1G>C (n.9407-1G>C)
c.9242-1G>C (n.9242-1G>C)
c.7391-1G>C (n.7391-1G>C)
c.5081-1G>C (n.5081-1G>C)
n.9780-1G>C
18g.23950028G=CA2290344000LAMA3c.4685-1G= (n.4685-1G=)
c.9512-1G= (n.9512-1G=)
c.6107-1G= (n.6107-1G=)
c.9344-1G= (n.9344-1G=)
c.4517-1G= (n.4517-1G=)
c.33-1G=
n.4090-1G=
c.9539-1G= (n.9539-1G=)
c.9530-1G= (n.9530-1G=)
c.9521-1G= (n.9521-1G=)
c.9407-1G= (n.9407-1G=)
c.9242-1G= (n.9242-1G=)
c.7391-1G= (n.7391-1G=)
c.5081-1G= (n.5081-1G=)
n.9780-1G=
18g.23950028G>TCA402051869LAMA3c.4685-1G>T (n.4685-1G>T)
c.9512-1G>T (n.9512-1G>T)
c.6107-1G>T (n.6107-1G>T)
c.9344-1G>T (n.9344-1G>T)
c.4517-1G>T (n.4517-1G>T)
c.33-1G>T
n.4090-1G>T
c.9539-1G>T (n.9539-1G>T)
c.9530-1G>T (n.9530-1G>T)
c.9521-1G>T (n.9521-1G>T)
c.9407-1G>T (n.9407-1G>T)
c.9242-1G>T (n.9242-1G>T)
c.7391-1G>T (n.7391-1G>T)
c.5081-1G>T (n.5081-1G>T)
n.9780-1G>T
 ClinVar dbSNP
18g.23950029C>ACA402051870LAMA3c.4685C>A (p.Ala1562Asp)
c.9512C>A (p.Ala3171Asp)
c.6107C>A (p.Ala2036Asp)
c.9344C>A (p.Ala3115Asp)
c.4517C>A (p.Ala1506Asp)
c.33C>A
n.4090C>A
c.9539C>A (p.Ala3180Asp)
c.9530C>A (p.Ala3177Asp)
c.9521C>A (p.Ala3174Asp)
c.9407C>A (p.Ala3136Asp)
c.9242C>A (p.Ala3081Asp)
c.7391C>A (p.Ala2464Asp)
c.5081C>A (p.Ala1694Asp)
n.9780C>A
18g.23950029C=CA2290344002LAMA3c.4685C= (p.Ala1562=)
c.9512C= (p.Ala3171=)
c.6107C= (p.Ala2036=)
c.9344C= (p.Ala3115=)
c.4517C= (p.Ala1506=)
c.33C=
n.4090C=
c.9539C= (p.Ala3180=)
c.9530C= (p.Ala3177=)
c.9521C= (p.Ala3174=)
c.9407C= (p.Ala3136=)
c.9242C= (p.Ala3081=)
c.7391C= (p.Ala2464=)
c.5081C= (p.Ala1694=)
n.9780C=
18g.23950029C>GCA402051871LAMA3c.4685C>G (p.Ala1562Gly)
c.9512C>G (p.Ala3171Gly)
c.6107C>G (p.Ala2036Gly)
c.9344C>G (p.Ala3115Gly)
c.4517C>G (p.Ala1506Gly)
c.33C>G
n.4090C>G
c.9539C>G (p.Ala3180Gly)
c.9530C>G (p.Ala3177Gly)
c.9521C>G (p.Ala3174Gly)
c.9407C>G (p.Ala3136Gly)
c.9242C>G (p.Ala3081Gly)
c.7391C>G (p.Ala2464Gly)
c.5081C>G (p.Ala1694Gly)
n.9780C>G
18g.23950029C>TCA402051872LAMA3c.4685C>T (p.Ala1562Val)
c.9512C>T (p.Ala3171Val)
c.6107C>T (p.Ala2036Val)
c.9344C>T (p.Ala3115Val)
c.4517C>T (p.Ala1506Val)
c.33C>T
n.4090C>T
c.9539C>T (p.Ala3180Val)
c.9530C>T (p.Ala3177Val)
c.9521C>T (p.Ala3174Val)
c.9407C>T (p.Ala3136Val)
c.9242C>T (p.Ala3081Val)
c.7391C>T (p.Ala2464Val)
c.5081C>T (p.Ala1694Val)
n.9780C>T
 dbSNP gnomAD v4 COSMIC COSMIC
18g.23950030T>ACA503522776LAMA3c.4686T>A (p.Ala1562=)
c.9513T>A (p.Ala3171=)
c.6108T>A (p.Ala2036=)
c.9345T>A (p.Ala3115=)
c.4518T>A (p.Ala1506=)
c.34T>A
n.4091T>A
c.9540T>A (p.Ala3180=)
c.9531T>A (p.Ala3177=)
c.9522T>A (p.Ala3174=)
c.9408T>A (p.Ala3136=)
c.9243T>A (p.Ala3081=)
c.7392T>A (p.Ala2464=)
c.5082T>A (p.Ala1694=)
n.9781T>A
 ClinVar
18g.23950030T>CCA297100319LAMA3c.4686T>C (p.Ala1562=)
c.9513T>C (p.Ala3171=)
c.6108T>C (p.Ala2036=)
c.9345T>C (p.Ala3115=)
c.4518T>C (p.Ala1506=)
c.34T>C
n.4091T>C
c.9540T>C (p.Ala3180=)
c.9531T>C (p.Ala3177=)
c.9522T>C (p.Ala3174=)
c.9408T>C (p.Ala3136=)
c.9243T>C (p.Ala3081=)
c.7392T>C (p.Ala2464=)
c.5082T>C (p.Ala1694=)
n.9781T>C
 ClinVar dbSNP gnomAD v4
18g.23950030T>GCA503522774LAMA3c.4686T>G (p.Ala1562=)
c.9513T>G (p.Ala3171=)
c.6108T>G (p.Ala2036=)
c.9345T>G (p.Ala3115=)
c.4518T>G (p.Ala1506=)
c.34T>G
n.4091T>G
c.9540T>G (p.Ala3180=)
c.9531T>G (p.Ala3177=)
c.9522T>G (p.Ala3174=)
c.9408T>G (p.Ala3136=)
c.9243T>G (p.Ala3081=)
c.7392T>G (p.Ala2464=)
c.5082T>G (p.Ala1694=)
n.9781T>G
18g.23950030T=CA2290344006LAMA3c.4686T= (p.Ala1562=)
c.9513T= (p.Ala3171=)
c.6108T= (p.Ala2036=)
c.9345T= (p.Ala3115=)
c.4518T= (p.Ala1506=)
c.34T=
n.4091T=
c.9540T= (p.Ala3180=)
c.9531T= (p.Ala3177=)
c.9522T= (p.Ala3174=)
c.9408T= (p.Ala3136=)
c.9243T= (p.Ala3081=)
c.7392T= (p.Ala2464=)
c.5082T= (p.Ala1694=)
n.9781T=
18g.23950031C>ACA402051873LAMA3c.4687C>A (p.His1563Asn)
c.9514C>A (p.His3172Asn)
c.6109C>A (p.His2037Asn)
c.9346C>A (p.His3116Asn)
c.4519C>A (p.His1507Asn)
c.35C>A
n.4092C>A
c.9541C>A (p.His3181Asn)
c.9532C>A (p.His3178Asn)
c.9523C>A (p.His3175Asn)
c.9409C>A (p.His3137Asn)
c.9244C>A (p.His3082Asn)
c.7393C>A (p.His2465Asn)
c.5083C>A (p.His1695Asn)
n.9782C>A
18g.23950031C=CA2290344012LAMA3c.4687C= (p.His1563=)
c.9514C= (p.His3172=)
c.6109C= (p.His2037=)
c.9346C= (p.His3116=)
c.4519C= (p.His1507=)
c.35C=
n.4092C=
c.9541C= (p.His3181=)
c.9532C= (p.His3178=)
c.9523C= (p.His3175=)
c.9409C= (p.His3137=)
c.9244C= (p.His3082=)
c.7393C= (p.His2465=)
c.5083C= (p.His1695=)
n.9782C=
18g.23950031C>GCA402051874LAMA3c.4687C>G (p.His1563Asp)
c.9514C>G (p.His3172Asp)
c.6109C>G (p.His2037Asp)
c.9346C>G (p.His3116Asp)
c.4519C>G (p.His1507Asp)
c.35C>G
n.4092C>G
c.9541C>G (p.His3181Asp)
c.9532C>G (p.His3178Asp)
c.9523C>G (p.His3175Asp)
c.9409C>G (p.His3137Asp)
c.9244C>G (p.His3082Asp)
c.7393C>G (p.His2465Asp)
c.5083C>G (p.His1695Asp)
n.9782C>G
18g.23950031C>TCA402051875LAMA3c.4687C>T (p.His1563Tyr)
c.9514C>T (p.His3172Tyr)
c.6109C>T (p.His2037Tyr)
c.9346C>T (p.His3116Tyr)
c.4519C>T (p.His1507Tyr)
c.35C>T
n.4092C>T
c.9541C>T (p.His3181Tyr)
c.9532C>T (p.His3178Tyr)
c.9523C>T (p.His3175Tyr)
c.9409C>T (p.His3137Tyr)
c.9244C>T (p.His3082Tyr)
c.7393C>T (p.His2465Tyr)
c.5083C>T (p.His1695Tyr)
n.9782C>T
 dbSNP gnomAD v2 gnomAD v4
18g.23950032A=CA2290344016LAMA3c.4688A= (p.His1563=)
c.9515A= (p.His3172=)
c.6110A= (p.His2037=)
c.9347A= (p.His3116=)
c.4520A= (p.His1507=)
c.36A=
n.4093A=
c.9542A= (p.His3181=)
c.9533A= (p.His3178=)
c.9524A= (p.His3175=)
c.9410A= (p.His3137=)
c.9245A= (p.His3082=)
c.7394A= (p.His2465=)
c.5084A= (p.His1695=)
n.9783A=
18g.23950032A>CCA402051877LAMA3c.4688A>C (p.His1563Pro)
c.9515A>C (p.His3172Pro)
c.6110A>C (p.His2037Pro)
c.9347A>C (p.His3116Pro)
c.4520A>C (p.His1507Pro)
c.36A>C
n.4093A>C
c.9542A>C (p.His3181Pro)
c.9533A>C (p.His3178Pro)
c.9524A>C (p.His3175Pro)
c.9410A>C (p.His3137Pro)
c.9245A>C (p.His3082Pro)
c.7394A>C (p.His2465Pro)
c.5084A>C (p.His1695Pro)
n.9783A>C
18g.23950032A>GCA402051876LAMA3c.4688A>G (p.His1563Arg)
c.9515A>G (p.His3172Arg)
c.6110A>G (p.His2037Arg)
c.9347A>G (p.His3116Arg)
c.4520A>G (p.His1507Arg)
c.36A>G
n.4093A>G
c.9542A>G (p.His3181Arg)
c.9533A>G (p.His3178Arg)
c.9524A>G (p.His3175Arg)
c.9410A>G (p.His3137Arg)
c.9245A>G (p.His3082Arg)
c.7394A>G (p.His2465Arg)
c.5084A>G (p.His1695Arg)
n.9783A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23950032A>TCA8917217LAMA3c.4688A>T (p.His1563Leu)
c.9515A>T (p.His3172Leu)
c.6110A>T (p.His2037Leu)
c.9347A>T (p.His3116Leu)
c.4520A>T (p.His1507Leu)
c.36A>T
n.4093A>T
c.9542A>T (p.His3181Leu)
c.9533A>T (p.His3178Leu)
c.9524A>T (p.His3175Leu)
c.9410A>T (p.His3137Leu)
c.9245A>T (p.His3082Leu)
c.7394A>T (p.His2465Leu)
c.5084A>T (p.His1695Leu)
n.9783A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23950033C>ACA402051878LAMA3c.4689C>A (p.His1563Gln)
c.9516C>A (p.His3172Gln)
c.6111C>A (p.His2037Gln)
c.9348C>A (p.His3116Gln)
c.4521C>A (p.His1507Gln)
c.37C>A
n.4094C>A
c.9543C>A (p.His3181Gln)
c.9534C>A (p.His3178Gln)
c.9525C>A (p.His3175Gln)
c.9411C>A (p.His3137Gln)
c.9246C>A (p.His3082Gln)
c.7395C>A (p.His2465Gln)
c.5085C>A (p.His1695Gln)
n.9784C>A
18g.23950033C>GCA402051879LAMA3c.4689C>G (p.His1563Gln)
c.9516C>G (p.His3172Gln)
c.6111C>G (p.His2037Gln)
c.9348C>G (p.His3116Gln)
c.4521C>G (p.His1507Gln)
c.37C>G
n.4094C>G
c.9543C>G (p.His3181Gln)
c.9534C>G (p.His3178Gln)
c.9525C>G (p.His3175Gln)
c.9411C>G (p.His3137Gln)
c.9246C>G (p.His3082Gln)
c.7395C>G (p.His2465Gln)
c.5085C>G (p.His1695Gln)
n.9784C>G
18g.23950033C>TCA503522777LAMA3c.4689C>T (p.His1563=)
c.9516C>T (p.His3172=)
c.6111C>T (p.His2037=)
c.9348C>T (p.His3116=)
c.4521C>T (p.His1507=)
c.37C>T
n.4094C>T
c.9543C>T (p.His3181=)
c.9534C>T (p.His3178=)
c.9525C>T (p.His3175=)
c.9411C>T (p.His3137=)
c.9246C>T (p.His3082=)
c.7395C>T (p.His2465=)
c.5085C>T (p.His1695=)
n.9784C>T
18g.23950034T>ACA402051880LAMA3c.4690T>A (p.Ser1564Thr)
c.9517T>A (p.Ser3173Thr)
c.6112T>A (p.Ser2038Thr)
c.9349T>A (p.Ser3117Thr)
c.4522T>A (p.Ser1508Thr)
c.38T>A
n.4095T>A
c.9544T>A (p.Ser3182Thr)
c.9535T>A (p.Ser3179Thr)
c.9526T>A (p.Ser3176Thr)
c.9412T>A (p.Ser3138Thr)
c.9247T>A (p.Ser3083Thr)
c.7396T>A (p.Ser2466Thr)
c.5086T>A (p.Ser1696Thr)
n.9785T>A
18g.23950034T>CCA402051881LAMA3c.4690T>C (p.Ser1564Pro)
c.9517T>C (p.Ser3173Pro)
c.6112T>C (p.Ser2038Pro)
c.9349T>C (p.Ser3117Pro)
c.4522T>C (p.Ser1508Pro)
c.38T>C
n.4095T>C
c.9544T>C (p.Ser3182Pro)
c.9535T>C (p.Ser3179Pro)
c.9526T>C (p.Ser3176Pro)
c.9412T>C (p.Ser3138Pro)
c.9247T>C (p.Ser3083Pro)
c.7396T>C (p.Ser2466Pro)
c.5086T>C (p.Ser1696Pro)
n.9785T>C
 dbSNP
18g.23950034T>GCA402051882LAMA3c.4690T>G (p.Ser1564Ala)
c.9517T>G (p.Ser3173Ala)
c.6112T>G (p.Ser2038Ala)
c.9349T>G (p.Ser3117Ala)
c.4522T>G (p.Ser1508Ala)
c.38T>G
n.4095T>G
c.9544T>G (p.Ser3182Ala)
c.9535T>G (p.Ser3179Ala)
c.9526T>G (p.Ser3176Ala)
c.9412T>G (p.Ser3138Ala)
c.9247T>G (p.Ser3083Ala)
c.7396T>G (p.Ser2466Ala)
c.5086T>G (p.Ser1696Ala)
n.9785T>G
18g.23950034T=CA2290344020LAMA3c.4690T= (p.Ser1564=)
c.9517T= (p.Ser3173=)
c.6112T= (p.Ser2038=)
c.9349T= (p.Ser3117=)
c.4522T= (p.Ser1508=)
c.38T=
n.4095T=
c.9544T= (p.Ser3182=)
c.9535T= (p.Ser3179=)
c.9526T= (p.Ser3176=)
c.9412T= (p.Ser3138=)
c.9247T= (p.Ser3083=)
c.7396T= (p.Ser2466=)
c.5086T= (p.Ser1696=)
n.9785T=
18g.23950035C>ACA402051883LAMA3c.4691C>A (p.Ser1564Tyr)
c.9518C>A (p.Ser3173Tyr)
c.6113C>A (p.Ser2038Tyr)
c.9350C>A (p.Ser3117Tyr)
c.4523C>A (p.Ser1508Tyr)
c.39C>A
n.4096C>A
c.9545C>A (p.Ser3182Tyr)
c.9536C>A (p.Ser3179Tyr)
c.9527C>A (p.Ser3176Tyr)
c.9413C>A (p.Ser3138Tyr)
c.9248C>A (p.Ser3083Tyr)
c.7397C>A (p.Ser2466Tyr)
c.5087C>A (p.Ser1696Tyr)
n.9786C>A
18g.23950035C>GCA402051884LAMA3c.4691C>G (p.Ser1564Cys)
c.9518C>G (p.Ser3173Cys)
c.6113C>G (p.Ser2038Cys)
c.9350C>G (p.Ser3117Cys)
c.4523C>G (p.Ser1508Cys)
c.39C>G
n.4096C>G
c.9545C>G (p.Ser3182Cys)
c.9536C>G (p.Ser3179Cys)
c.9527C>G (p.Ser3176Cys)
c.9413C>G (p.Ser3138Cys)
c.9248C>G (p.Ser3083Cys)
c.7397C>G (p.Ser2466Cys)
c.5087C>G (p.Ser1696Cys)
n.9786C>G
18g.23950035C>TCA402051885LAMA3c.4691C>T (p.Ser1564Phe)
c.9518C>T (p.Ser3173Phe)
c.6113C>T (p.Ser2038Phe)
c.9350C>T (p.Ser3117Phe)
c.4523C>T (p.Ser1508Phe)
c.39C>T
n.4096C>T
c.9545C>T (p.Ser3182Phe)
c.9536C>T (p.Ser3179Phe)
c.9527C>T (p.Ser3176Phe)
c.9413C>T (p.Ser3138Phe)
c.9248C>T (p.Ser3083Phe)
c.7397C>T (p.Ser2466Phe)
c.5087C>T (p.Ser1696Phe)
n.9786C>T
 COSMIC
18g.23950035_23950062delinsCTGTATTGTTGGGGCCAGAATTTAAGCTCA2290344024LAMA3c.4691_4718delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser1564=)
c.9518_9545delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser3173=)
c.6113_6140delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser2038=)
c.9350_9377delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser3117=)
c.4523_4550delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser1508=)
c.39_66delinsCTGTATTGTTGGGGCCAGAATTTAAGCT
n.4096_4123delinsCTGTATTGTTGGGGCCAGAATTTAAGCT
c.9545_9572delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser3182=)
c.9536_9563delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser3179=)
c.9527_9554delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser3176=)
c.9413_9440delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser3138=)
c.9248_9275delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser3083=)
c.7397_7424delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser2466=)
c.5087_5114delinsCTGTATTGTTGGGGCCAGAATTTAAGCT (p.Ser1696=)
n.9786_9813delinsCTGTATTGTTGGGGCCAGAATTTAAGCT
18g.23950036T>ACA503522781LAMA3c.4692T>A (p.Ser1564=)
c.9519T>A (p.Ser3173=)
c.6114T>A (p.Ser2038=)
c.9351T>A (p.Ser3117=)
c.4524T>A (p.Ser1508=)
c.40T>A
n.4097T>A
c.9546T>A (p.Ser3182=)
c.9537T>A (p.Ser3179=)
c.9528T>A (p.Ser3176=)
c.9414T>A (p.Ser3138=)
c.9249T>A (p.Ser3083=)
c.7398T>A (p.Ser2466=)
c.5088T>A (p.Ser1696=)
n.9787T>A
18g.23950036T>CCA503522782LAMA3c.4692T>C (p.Ser1564=)
c.9519T>C (p.Ser3173=)
c.6114T>C (p.Ser2038=)
c.9351T>C (p.Ser3117=)
c.4524T>C (p.Ser1508=)
c.40T>C
n.4097T>C
c.9546T>C (p.Ser3182=)
c.9537T>C (p.Ser3179=)
c.9528T>C (p.Ser3176=)
c.9414T>C (p.Ser3138=)
c.9249T>C (p.Ser3083=)
c.7398T>C (p.Ser2466=)
c.5088T>C (p.Ser1696=)
n.9787T>C
18g.23950036T>GCA503522783LAMA3c.4692T>G (p.Ser1564=)
c.9519T>G (p.Ser3173=)
c.6114T>G (p.Ser2038=)
c.9351T>G (p.Ser3117=)
c.4524T>G (p.Ser1508=)
c.40T>G
n.4097T>G
c.9546T>G (p.Ser3182=)
c.9537T>G (p.Ser3179=)
c.9528T>G (p.Ser3176=)
c.9414T>G (p.Ser3138=)
c.9249T>G (p.Ser3083=)
c.7398T>G (p.Ser2466=)
c.5088T>G (p.Ser1696=)
n.9787T>G
18g.23950039_23950065delCA628979193LAMA3c.4695_4721del (p.Leu1566_Val1574del)
c.9522_9548del (p.Leu3175_Val3183del)
c.6117_6143del (p.Leu2040_Val2048del)
c.9354_9380del (p.Leu3119_Val3127del)
c.4527_4553del (p.Leu1510_Val1518del)
c.43_69del
n.4100_4126del
c.9549_9575del (p.Leu3184_Val3192del)
c.9540_9566del (p.Leu3181_Val3189del)
c.9531_9557del (p.Leu3178_Val3186del)
c.9417_9443del (p.Leu3140_Val3148del)
c.9252_9278del (p.Leu3085_Val3093del)
c.7401_7427del (p.Leu2468_Val2476del)
c.5091_5117del (p.Leu1698_Val1706del)
n.9790_9816del
 dbSNP gnomAD v2
18g.23950037G>ACA402051886LAMA3c.4693G>A (p.Val1565Ile)
c.9520G>A (p.Val3174Ile)
c.6115G>A (p.Val2039Ile)
c.9352G>A (p.Val3118Ile)
c.4525G>A (p.Val1509Ile)
c.41G>A
n.4098G>A
c.9547G>A (p.Val3183Ile)
c.9538G>A (p.Val3180Ile)
c.9529G>A (p.Val3177Ile)
c.9415G>A (p.Val3139Ile)
c.9250G>A (p.Val3084Ile)
c.7399G>A (p.Val2467Ile)
c.5089G>A (p.Val1697Ile)
n.9788G>A
18g.23950037G>CCA402051887LAMA3c.4693G>C (p.Val1565Leu)
c.9520G>C (p.Val3174Leu)
c.6115G>C (p.Val2039Leu)
c.9352G>C (p.Val3118Leu)
c.4525G>C (p.Val1509Leu)
c.41G>C
n.4098G>C
c.9547G>C (p.Val3183Leu)
c.9538G>C (p.Val3180Leu)
c.9529G>C (p.Val3177Leu)
c.9415G>C (p.Val3139Leu)
c.9250G>C (p.Val3084Leu)
c.7399G>C (p.Val2467Leu)
c.5089G>C (p.Val1697Leu)
n.9788G>C
18g.23950037G>TCA402051888LAMA3c.4693G>T (p.Val1565Leu)
c.9520G>T (p.Val3174Leu)
c.6115G>T (p.Val2039Leu)
c.9352G>T (p.Val3118Leu)
c.4525G>T (p.Val1509Leu)
c.41G>T
n.4098G>T
c.9547G>T (p.Val3183Leu)
c.9538G>T (p.Val3180Leu)
c.9529G>T (p.Val3177Leu)
c.9415G>T (p.Val3139Leu)
c.9250G>T (p.Val3084Leu)
c.7399G>T (p.Val2467Leu)
c.5089G>T (p.Val1697Leu)
n.9788G>T
18g.23950038T>ACA402051891LAMA3c.4694T>A (p.Val1565Glu)
c.9521T>A (p.Val3174Glu)
c.6116T>A (p.Val2039Glu)
c.9353T>A (p.Val3118Glu)
c.4526T>A (p.Val1509Glu)
c.42T>A
n.4099T>A
c.9548T>A (p.Val3183Glu)
c.9539T>A (p.Val3180Glu)
c.9530T>A (p.Val3177Glu)
c.9416T>A (p.Val3139Glu)
c.9251T>A (p.Val3084Glu)
c.7400T>A (p.Val2467Glu)
c.5090T>A (p.Val1697Glu)
n.9789T>A
18g.23950038T>CCA402051890LAMA3c.4694T>C (p.Val1565Ala)
c.9521T>C (p.Val3174Ala)
c.6116T>C (p.Val2039Ala)
c.9353T>C (p.Val3118Ala)
c.4526T>C (p.Val1509Ala)
c.42T>C
n.4099T>C
c.9548T>C (p.Val3183Ala)
c.9539T>C (p.Val3180Ala)
c.9530T>C (p.Val3177Ala)
c.9416T>C (p.Val3139Ala)
c.9251T>C (p.Val3084Ala)
c.7400T>C (p.Val2467Ala)
c.5090T>C (p.Val1697Ala)
n.9789T>C
18g.23950038T>GCA402051889LAMA3c.4694T>G (p.Val1565Gly)
c.9521T>G (p.Val3174Gly)
c.6116T>G (p.Val2039Gly)
c.9353T>G (p.Val3118Gly)
c.4526T>G (p.Val1509Gly)
c.42T>G
n.4099T>G
c.9548T>G (p.Val3183Gly)
c.9539T>G (p.Val3180Gly)
c.9530T>G (p.Val3177Gly)
c.9416T>G (p.Val3139Gly)
c.9251T>G (p.Val3084Gly)
c.7400T>G (p.Val2467Gly)
c.5090T>G (p.Val1697Gly)
n.9789T>G
18g.23950039A=CA2290344031LAMA3c.4695A= (p.Val1565=)
c.9522A= (p.Val3174=)
c.6117A= (p.Val2039=)
c.9354A= (p.Val3118=)
c.4527A= (p.Val1509=)
c.43A=
n.4100A=
c.9549A= (p.Val3183=)
c.9540A= (p.Val3180=)
c.9531A= (p.Val3177=)
c.9417A= (p.Val3139=)
c.9252A= (p.Val3084=)
c.7401A= (p.Val2467=)
c.5091A= (p.Val1697=)
n.9790A=
18g.23950039A>CCA503522784LAMA3c.4695A>C (p.Val1565=)
c.9522A>C (p.Val3174=)
c.6117A>C (p.Val2039=)
c.9354A>C (p.Val3118=)
c.4527A>C (p.Val1509=)
c.43A>C
n.4100A>C
c.9549A>C (p.Val3183=)
c.9540A>C (p.Val3180=)
c.9531A>C (p.Val3177=)
c.9417A>C (p.Val3139=)
c.9252A>C (p.Val3084=)
c.7401A>C (p.Val2467=)
c.5091A>C (p.Val1697=)
n.9790A>C
18g.23950039A>GCA8917218LAMA3c.4695A>G (p.Val1565=)
c.9522A>G (p.Val3174=)
c.6117A>G (p.Val2039=)
c.9354A>G (p.Val3118=)
c.4527A>G (p.Val1509=)
c.43A>G
n.4100A>G
c.9549A>G (p.Val3183=)
c.9540A>G (p.Val3180=)
c.9531A>G (p.Val3177=)
c.9417A>G (p.Val3139=)
c.9252A>G (p.Val3084=)
c.7401A>G (p.Val2467=)
c.5091A>G (p.Val1697=)
n.9790A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23950039A>TCA503522786LAMA3c.4695A>T (p.Val1565=)
c.9522A>T (p.Val3174=)
c.6117A>T (p.Val2039=)
c.9354A>T (p.Val3118=)
c.4527A>T (p.Val1509=)
c.43A>T
n.4100A>T
c.9549A>T (p.Val3183=)
c.9540A>T (p.Val3180=)
c.9531A>T (p.Val3177=)
c.9417A>T (p.Val3139=)
c.9252A>T (p.Val3084=)
c.7401A>T (p.Val2467=)
c.5091A>T (p.Val1697=)
n.9790A>T
 gnomAD v4
18g.23950040T>ACA402051893LAMA3c.4696T>A (p.Leu1566Met)
c.9523T>A (p.Leu3175Met)
c.6118T>A (p.Leu2040Met)
c.9355T>A (p.Leu3119Met)
c.4528T>A (p.Leu1510Met)
c.44T>A
n.4101T>A
c.9550T>A (p.Leu3184Met)
c.9541T>A (p.Leu3181Met)
c.9532T>A (p.Leu3178Met)
c.9418T>A (p.Leu3140Met)
c.9253T>A (p.Leu3085Met)
c.7402T>A (p.Leu2468Met)
c.5092T>A (p.Leu1698Met)
n.9791T>A
18g.23950040T>CCA8917219LAMA3c.4696T>C (p.Leu1566=)
c.9523T>C (p.Leu3175=)
c.6118T>C (p.Leu2040=)
c.9355T>C (p.Leu3119=)
c.4528T>C (p.Leu1510=)
c.44T>C
n.4101T>C
c.9550T>C (p.Leu3184=)
c.9541T>C (p.Leu3181=)
c.9532T>C (p.Leu3178=)
c.9418T>C (p.Leu3140=)
c.9253T>C (p.Leu3085=)
c.7402T>C (p.Leu2468=)
c.5092T>C (p.Leu1698=)
n.9791T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23950040T>GCA402051892LAMA3c.4696T>G (p.Leu1566Val)
c.9523T>G (p.Leu3175Val)
c.6118T>G (p.Leu2040Val)
c.9355T>G (p.Leu3119Val)
c.4528T>G (p.Leu1510Val)
c.44T>G
n.4101T>G
c.9550T>G (p.Leu3184Val)
c.9541T>G (p.Leu3181Val)
c.9532T>G (p.Leu3178Val)
c.9418T>G (p.Leu3140Val)
c.9253T>G (p.Leu3085Val)
c.7402T>G (p.Leu2468Val)
c.5092T>G (p.Leu1698Val)
n.9791T>G
18g.23950040T=CA2290344042LAMA3c.4696T= (p.Leu1566=)
c.9523T= (p.Leu3175=)
c.6118T= (p.Leu2040=)
c.9355T= (p.Leu3119=)
c.4528T= (p.Leu1510=)
c.44T=
n.4101T=
c.9550T= (p.Leu3184=)
c.9541T= (p.Leu3181=)
c.9532T= (p.Leu3178=)
c.9418T= (p.Leu3140=)
c.9253T= (p.Leu3085=)
c.7402T= (p.Leu2468=)
c.5092T= (p.Leu1698=)
n.9791T=
18g.23950041T>ACA402051894LAMA3c.4697T>A (p.Leu1566Ter)
c.9524T>A (p.Leu3175Ter)
c.6119T>A (p.Leu2040Ter)
c.9356T>A (p.Leu3119Ter)
c.4529T>A (p.Leu1510Ter)
c.45T>A
n.4102T>A
c.9551T>A (p.Leu3184Ter)
c.9542T>A (p.Leu3181Ter)
c.9533T>A (p.Leu3178Ter)
c.9419T>A (p.Leu3140Ter)
c.9254T>A (p.Leu3085Ter)
c.7403T>A (p.Leu2468Ter)
c.5093T>A (p.Leu1698Ter)
n.9792T>A
18g.23950041T>CCA402051895LAMA3c.4697T>C (p.Leu1566Ser)
c.9524T>C (p.Leu3175Ser)
c.6119T>C (p.Leu2040Ser)
c.9356T>C (p.Leu3119Ser)
c.4529T>C (p.Leu1510Ser)
c.45T>C
n.4102T>C
c.9551T>C (p.Leu3184Ser)
c.9542T>C (p.Leu3181Ser)
c.9533T>C (p.Leu3178Ser)
c.9419T>C (p.Leu3140Ser)
c.9254T>C (p.Leu3085Ser)
c.7403T>C (p.Leu2468Ser)
c.5093T>C (p.Leu1698Ser)
n.9792T>C
18g.23950041T>GCA402051896LAMA3c.4697T>G (p.Leu1566Trp)
c.9524T>G (p.Leu3175Trp)
c.6119T>G (p.Leu2040Trp)
c.9356T>G (p.Leu3119Trp)
c.4529T>G (p.Leu1510Trp)
c.45T>G
n.4102T>G
c.9551T>G (p.Leu3184Trp)
c.9542T>G (p.Leu3181Trp)
c.9533T>G (p.Leu3178Trp)
c.9419T>G (p.Leu3140Trp)
c.9254T>G (p.Leu3085Trp)
c.7403T>G (p.Leu2468Trp)
c.5093T>G (p.Leu1698Trp)
n.9792T>G
18g.23950042G>ACA8917220LAMA3c.4698G>A (p.Leu1566=)
c.9525G>A (p.Leu3175=)
c.6120G>A (p.Leu2040=)
c.9357G>A (p.Leu3119=)
c.4530G>A (p.Leu1510=)
c.46G>A
n.4103G>A
c.9552G>A (p.Leu3184=)
c.9543G>A (p.Leu3181=)
c.9534G>A (p.Leu3178=)
c.9420G>A (p.Leu3140=)
c.9255G>A (p.Leu3085=)
c.7404G>A (p.Leu2468=)
c.5094G>A (p.Leu1698=)
n.9793G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23950042G>CCA402051897LAMA3c.4698G>C (p.Leu1566Phe)
c.9525G>C (p.Leu3175Phe)
c.6120G>C (p.Leu2040Phe)
c.9357G>C (p.Leu3119Phe)
c.4530G>C (p.Leu1510Phe)
c.46G>C
n.4103G>C
c.9552G>C (p.Leu3184Phe)
c.9543G>C (p.Leu3181Phe)
c.9534G>C (p.Leu3178Phe)
c.9420G>C (p.Leu3140Phe)
c.9255G>C (p.Leu3085Phe)
c.7404G>C (p.Leu2468Phe)
c.5094G>C (p.Leu1698Phe)
n.9793G>C
18g.23950042G=CA2290344047LAMA3c.4698G= (p.Leu1566=)
c.9525G= (p.Leu3175=)
c.6120G= (p.Leu2040=)
c.9357G= (p.Leu3119=)
c.4530G= (p.Leu1510=)
c.46G=
n.4103G=
c.9552G= (p.Leu3184=)
c.9543G= (p.Leu3181=)
c.9534G= (p.Leu3178=)
c.9420G= (p.Leu3140=)
c.9255G= (p.Leu3085=)
c.7404G= (p.Leu2468=)
c.5094G= (p.Leu1698=)
n.9793G=
18g.23950042G>TCA8917221LAMA3c.4698G>T (p.Leu1566Phe)
c.9525G>T (p.Leu3175Phe)
c.6120G>T (p.Leu2040Phe)
c.9357G>T (p.Leu3119Phe)
c.4530G>T (p.Leu1510Phe)
c.46G>T
n.4103G>T
c.9552G>T (p.Leu3184Phe)
c.9543G>T (p.Leu3181Phe)
c.9534G>T (p.Leu3178Phe)
c.9420G>T (p.Leu3140Phe)
c.9255G>T (p.Leu3085Phe)
c.7404G>T (p.Leu2468Phe)
c.5094G>T (p.Leu1698Phe)
n.9793G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23950043T>ACA402051898LAMA3c.4699T>A (p.Leu1567Met)
c.9526T>A (p.Leu3176Met)
c.6121T>A (p.Leu2041Met)
c.9358T>A (p.Leu3120Met)
c.4531T>A (p.Leu1511Met)
c.47T>A
n.4104T>A
c.9553T>A (p.Leu3185Met)
c.9544T>A (p.Leu3182Met)
c.9535T>A (p.Leu3179Met)
c.9421T>A (p.Leu3141Met)
c.9256T>A (p.Leu3086Met)
c.7405T>A (p.Leu2469Met)
c.5095T>A (p.Leu1699Met)
n.9794T>A
18g.23950043T>CCA8917222LAMA3c.4699T>C (p.Leu1567=)
c.9526T>C (p.Leu3176=)
c.6121T>C (p.Leu2041=)
c.9358T>C (p.Leu3120=)
c.4531T>C (p.Leu1511=)
c.47T>C
n.4104T>C
c.9553T>C (p.Leu3185=)
c.9544T>C (p.Leu3182=)
c.9535T>C (p.Leu3179=)
c.9421T>C (p.Leu3141=)
c.9256T>C (p.Leu3086=)
c.7405T>C (p.Leu2469=)
c.5095T>C (p.Leu1699=)
n.9794T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23950043T>GCA402051899LAMA3c.4699T>G (p.Leu1567Val)
c.9526T>G (p.Leu3176Val)
c.6121T>G (p.Leu2041Val)
c.9358T>G (p.Leu3120Val)
c.4531T>G (p.Leu1511Val)
c.47T>G
n.4104T>G
c.9553T>G (p.Leu3185Val)
c.9544T>G (p.Leu3182Val)
c.9535T>G (p.Leu3179Val)
c.9421T>G (p.Leu3141Val)
c.9256T>G (p.Leu3086Val)
c.7405T>G (p.Leu2469Val)
c.5095T>G (p.Leu1699Val)
n.9794T>G
18g.23950043T=CA2290344051LAMA3c.4699T= (p.Leu1567=)
c.9526T= (p.Leu3176=)
c.6121T= (p.Leu2041=)
c.9358T= (p.Leu3120=)
c.4531T= (p.Leu1511=)
c.47T=
n.4104T=
c.9553T= (p.Leu3185=)
c.9544T= (p.Leu3182=)
c.9535T= (p.Leu3179=)
c.9421T= (p.Leu3141=)
c.9256T= (p.Leu3086=)
c.7405T= (p.Leu2469=)
c.5095T= (p.Leu1699=)
n.9794T=
18g.23950044T>ACA402051902LAMA3c.4700T>A (p.Leu1567Ter)
c.9527T>A (p.Leu3176Ter)
c.6122T>A (p.Leu2041Ter)
c.9359T>A (p.Leu3120Ter)
c.4532T>A (p.Leu1511Ter)
c.48T>A
n.4105T>A
c.9554T>A (p.Leu3185Ter)
c.9545T>A (p.Leu3182Ter)
c.9536T>A (p.Leu3179Ter)
c.9422T>A (p.Leu3141Ter)
c.9257T>A (p.Leu3086Ter)
c.7406T>A (p.Leu2469Ter)
c.5096T>A (p.Leu1699Ter)
n.9795T>A
18g.23950044T>CCA402051901LAMA3c.4700T>C (p.Leu1567Ser)
c.9527T>C (p.Leu3176Ser)
c.6122T>C (p.Leu2041Ser)
c.9359T>C (p.Leu3120Ser)
c.4532T>C (p.Leu1511Ser)
c.48T>C
n.4105T>C
c.9554T>C (p.Leu3185Ser)
c.9545T>C (p.Leu3182Ser)
c.9536T>C (p.Leu3179Ser)
c.9422T>C (p.Leu3141Ser)
c.9257T>C (p.Leu3086Ser)
c.7406T>C (p.Leu2469Ser)
c.5096T>C (p.Leu1699Ser)
n.9795T>C
18g.23950044T>GCA402051900LAMA3c.4700T>G (p.Leu1567Trp)
c.9527T>G (p.Leu3176Trp)
c.6122T>G (p.Leu2041Trp)
c.9359T>G (p.Leu3120Trp)
c.4532T>G (p.Leu1511Trp)
c.48T>G
n.4105T>G
c.9554T>G (p.Leu3185Trp)
c.9545T>G (p.Leu3182Trp)
c.9536T>G (p.Leu3179Trp)
c.9422T>G (p.Leu3141Trp)
c.9257T>G (p.Leu3086Trp)
c.7406T>G (p.Leu2469Trp)
c.5096T>G (p.Leu1699Trp)
n.9795T>G
18g.23950045G>ACA503522788LAMA3c.4701G>A (p.Leu1567=)
c.9528G>A (p.Leu3176=)
c.6123G>A (p.Leu2041=)
c.9360G>A (p.Leu3120=)
c.4533G>A (p.Leu1511=)
c.49G>A
n.4106G>A
c.9555G>A (p.Leu3185=)
c.9546G>A (p.Leu3182=)
c.9537G>A (p.Leu3179=)
c.9423G>A (p.Leu3141=)
c.9258G>A (p.Leu3086=)
c.7407G>A (p.Leu2469=)
c.5097G>A (p.Leu1699=)
n.9796G>A
18g.23950045G>CCA402051903LAMA3c.4701G>C (p.Leu1567Phe)
c.9528G>C (p.Leu3176Phe)
c.6123G>C (p.Leu2041Phe)
c.9360G>C (p.Leu3120Phe)
c.4533G>C (p.Leu1511Phe)
c.49G>C
n.4106G>C
c.9555G>C (p.Leu3185Phe)
c.9546G>C (p.Leu3182Phe)
c.9537G>C (p.Leu3179Phe)
c.9423G>C (p.Leu3141Phe)
c.9258G>C (p.Leu3086Phe)
c.7407G>C (p.Leu2469Phe)
c.5097G>C (p.Leu1699Phe)
n.9796G>C
18g.23950045G>TCA402051904LAMA3c.4701G>T (p.Leu1567Phe)
c.9528G>T (p.Leu3176Phe)
c.6123G>T (p.Leu2041Phe)
c.9360G>T (p.Leu3120Phe)
c.4533G>T (p.Leu1511Phe)
c.49G>T
n.4106G>T
c.9555G>T (p.Leu3185Phe)
c.9546G>T (p.Leu3182Phe)
c.9537G>T (p.Leu3179Phe)
c.9423G>T (p.Leu3141Phe)
c.9258G>T (p.Leu3086Phe)
c.7407G>T (p.Leu2469Phe)
c.5097G>T (p.Leu1699Phe)
n.9796G>T
 gnomAD v4
18g.23950046G>ACA402051905LAMA3c.4702G>A (p.Gly1568Arg)
c.9529G>A (p.Gly3177Arg)
c.6124G>A (p.Gly2042Arg)
c.9361G>A (p.Gly3121Arg)
c.4534G>A (p.Gly1512Arg)
c.50G>A
n.4107G>A
c.9556G>A (p.Gly3186Arg)
c.9547G>A (p.Gly3183Arg)
c.9538G>A (p.Gly3180Arg)
c.9424G>A (p.Gly3142Arg)
c.9259G>A (p.Gly3087Arg)
c.7408G>A (p.Gly2470Arg)
c.5098G>A (p.Gly1700Arg)
n.9797G>A
18g.23950046G>CCA402051906LAMA3c.4702G>C (p.Gly1568Arg)
c.9529G>C (p.Gly3177Arg)
c.6124G>C (p.Gly2042Arg)
c.9361G>C (p.Gly3121Arg)
c.4534G>C (p.Gly1512Arg)
c.50G>C
n.4107G>C
c.9556G>C (p.Gly3186Arg)
c.9547G>C (p.Gly3183Arg)
c.9538G>C (p.Gly3180Arg)
c.9424G>C (p.Gly3142Arg)
c.9259G>C (p.Gly3087Arg)
c.7408G>C (p.Gly2470Arg)
c.5098G>C (p.Gly1700Arg)
n.9797G>C
18g.23950046G>TCA402051907LAMA3c.4702G>T (p.Gly1568Trp)
c.9529G>T (p.Gly3177Trp)
c.6124G>T (p.Gly2042Trp)
c.9361G>T (p.Gly3121Trp)
c.4534G>T (p.Gly1512Trp)
c.50G>T
n.4107G>T
c.9556G>T (p.Gly3186Trp)
c.9547G>T (p.Gly3183Trp)
c.9538G>T (p.Gly3180Trp)
c.9424G>T (p.Gly3142Trp)
c.9259G>T (p.Gly3087Trp)
c.7408G>T (p.Gly2470Trp)
c.5098G>T (p.Gly1700Trp)
n.9797G>T
18g.23950047G>ACA402051908LAMA3c.4703G>A (p.Gly1568Glu)
c.9530G>A (p.Gly3177Glu)
c.6125G>A (p.Gly2042Glu)
c.9362G>A (p.Gly3121Glu)
c.4535G>A (p.Gly1512Glu)
c.51G>A
n.4108G>A
c.9557G>A (p.Gly3186Glu)
c.9548G>A (p.Gly3183Glu)
c.9539G>A (p.Gly3180Glu)
c.9425G>A (p.Gly3142Glu)
c.9260G>A (p.Gly3087Glu)
c.7409G>A (p.Gly2470Glu)
c.5099G>A (p.Gly1700Glu)
n.9798G>A
 dbSNP
18g.23950047G>CCA402051909LAMA3c.4703G>C (p.Gly1568Ala)
c.9530G>C (p.Gly3177Ala)
c.6125G>C (p.Gly2042Ala)
c.9362G>C (p.Gly3121Ala)
c.4535G>C (p.Gly1512Ala)
c.51G>C
n.4108G>C
c.9557G>C (p.Gly3186Ala)
c.9548G>C (p.Gly3183Ala)
c.9539G>C (p.Gly3180Ala)
c.9425G>C (p.Gly3142Ala)
c.9260G>C (p.Gly3087Ala)
c.7409G>C (p.Gly2470Ala)
c.5099G>C (p.Gly1700Ala)
n.9798G>C
18g.23950047G=CA2290344055LAMA3c.4703G= (p.Gly1568=)
c.9530G= (p.Gly3177=)
c.6125G= (p.Gly2042=)
c.9362G= (p.Gly3121=)
c.4535G= (p.Gly1512=)
c.51G=
n.4108G=
c.9557G= (p.Gly3186=)
c.9548G= (p.Gly3183=)
c.9539G= (p.Gly3180=)
c.9425G= (p.Gly3142=)
c.9260G= (p.Gly3087=)
c.7409G= (p.Gly2470=)
c.5099G= (p.Gly1700=)
n.9798G=
18g.23950047G>TCA402051910LAMA3c.4703G>T (p.Gly1568Val)
c.9530G>T (p.Gly3177Val)
c.6125G>T (p.Gly2042Val)
c.9362G>T (p.Gly3121Val)
c.4535G>T (p.Gly1512Val)
c.51G>T
n.4108G>T
c.9557G>T (p.Gly3186Val)
c.9548G>T (p.Gly3183Val)
c.9539G>T (p.Gly3180Val)
c.9425G>T (p.Gly3142Val)
c.9260G>T (p.Gly3087Val)
c.7409G>T (p.Gly2470Val)
c.5099G>T (p.Gly1700Val)
n.9798G>T
 gnomAD v4
18g.23950048G>ACA8917223LAMA3c.4704G>A (p.Gly1568=)
c.9531G>A (p.Gly3177=)
c.6126G>A (p.Gly2042=)
c.9363G>A (p.Gly3121=)
c.4536G>A (p.Gly1512=)
c.52G>A
n.4109G>A
c.9558G>A (p.Gly3186=)
c.9549G>A (p.Gly3183=)
c.9540G>A (p.Gly3180=)
c.9426G>A (p.Gly3142=)
c.9261G>A (p.Gly3087=)
c.7410G>A (p.Gly2470=)
c.5100G>A (p.Gly1700=)
n.9799G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23950048G>CCA503522789LAMA3c.4704G>C (p.Gly1568=)
c.9531G>C (p.Gly3177=)
c.6126G>C (p.Gly2042=)
c.9363G>C (p.Gly3121=)
c.4536G>C (p.Gly1512=)
c.52G>C
n.4109G>C
c.9558G>C (p.Gly3186=)
c.9549G>C (p.Gly3183=)
c.9540G>C (p.Gly3180=)
c.9426G>C (p.Gly3142=)
c.9261G>C (p.Gly3087=)
c.7410G>C (p.Gly2470=)
c.5100G>C (p.Gly1700=)
n.9799G>C
18g.23950048G=CA2290344058LAMA3c.4704G= (p.Gly1568=)
c.9531G= (p.Gly3177=)
c.6126G= (p.Gly2042=)
c.9363G= (p.Gly3121=)
c.4536G= (p.Gly1512=)
c.52G=
n.4109G=
c.9558G= (p.Gly3186=)
c.9549G= (p.Gly3183=)
c.9540G= (p.Gly3180=)
c.9426G= (p.Gly3142=)
c.9261G= (p.Gly3087=)
c.7410G= (p.Gly2470=)
c.5100G= (p.Gly1700=)
n.9799G=
18g.23950048G>TCA503522791LAMA3c.4704G>T (p.Gly1568=)
c.9531G>T (p.Gly3177=)
c.6126G>T (p.Gly2042=)
c.9363G>T (p.Gly3121=)
c.4536G>T (p.Gly1512=)
c.52G>T
n.4109G>T
c.9558G>T (p.Gly3186=)
c.9549G>T (p.Gly3183=)
c.9540G>T (p.Gly3180=)
c.9426G>T (p.Gly3142=)
c.9261G>T (p.Gly3087=)
c.7410G>T (p.Gly2470=)
c.5100G>T (p.Gly1700=)
n.9799G>T
18g.23950049C>ACA402051911LAMA3c.4705C>A (p.Pro1569Thr)
c.9532C>A (p.Pro3178Thr)
c.6127C>A (p.Pro2043Thr)
c.9364C>A (p.Pro3122Thr)
c.4537C>A (p.Pro1513Thr)
c.53C>A
n.4110C>A
c.9559C>A (p.Pro3187Thr)
c.9550C>A (p.Pro3184Thr)
c.9541C>A (p.Pro3181Thr)
c.9427C>A (p.Pro3143Thr)
c.9262C>A (p.Pro3088Thr)
c.7411C>A (p.Pro2471Thr)
c.5101C>A (p.Pro1701Thr)
n.9800C>A
18g.23950049C=CA2290344062LAMA3c.4705C= (p.Pro1569=)
c.9532C= (p.Pro3178=)
c.6127C= (p.Pro2043=)
c.9364C= (p.Pro3122=)
c.4537C= (p.Pro1513=)
c.53C=
n.4110C=
c.9559C= (p.Pro3187=)
c.9550C= (p.Pro3184=)
c.9541C= (p.Pro3181=)
c.9427C= (p.Pro3143=)
c.9262C= (p.Pro3088=)
c.7411C= (p.Pro2471=)
c.5101C= (p.Pro1701=)
n.9800C=
18g.23950049C>GCA402051912LAMA3c.4705C>G (p.Pro1569Ala)
c.9532C>G (p.Pro3178Ala)
c.6127C>G (p.Pro2043Ala)
c.9364C>G (p.Pro3122Ala)
c.4537C>G (p.Pro1513Ala)
c.53C>G
n.4110C>G
c.9559C>G (p.Pro3187Ala)
c.9550C>G (p.Pro3184Ala)
c.9541C>G (p.Pro3181Ala)
c.9427C>G (p.Pro3143Ala)
c.9262C>G (p.Pro3088Ala)
c.7411C>G (p.Pro2471Ala)
c.5101C>G (p.Pro1701Ala)
n.9800C>G
18g.23950049C>TCA8917224LAMA3c.4705C>T (p.Pro1569Ser)
c.9532C>T (p.Pro3178Ser)
c.6127C>T (p.Pro2043Ser)
c.9364C>T (p.Pro3122Ser)
c.4537C>T (p.Pro1513Ser)
c.53C>T
n.4110C>T
c.9559C>T (p.Pro3187Ser)
c.9550C>T (p.Pro3184Ser)
c.9541C>T (p.Pro3181Ser)
c.9427C>T (p.Pro3143Ser)
c.9262C>T (p.Pro3088Ser)
c.7411C>T (p.Pro2471Ser)
c.5101C>T (p.Pro1701Ser)
n.9800C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23950050C>ACA402051914LAMA3c.4706C>A (p.Pro1569Gln)
c.9533C>A (p.Pro3178Gln)
c.6128C>A (p.Pro2043Gln)
c.9365C>A (p.Pro3122Gln)
c.4538C>A (p.Pro1513Gln)
c.54C>A
n.4111C>A
c.9560C>A (p.Pro3187Gln)
c.9551C>A (p.Pro3184Gln)
c.9542C>A (p.Pro3181Gln)
c.9428C>A (p.Pro3143Gln)
c.9263C>A (p.Pro3088Gln)
c.7412C>A (p.Pro2471Gln)
c.5102C>A (p.Pro1701Gln)
n.9801C>A
18g.23950050C=CA2290344068LAMA3c.4706C= (p.Pro1569=)
c.9533C= (p.Pro3178=)
c.6128C= (p.Pro2043=)
c.9365C= (p.Pro3122=)
c.4538C= (p.Pro1513=)
c.54C=
n.4111C=
c.9560C= (p.Pro3187=)
c.9551C= (p.Pro3184=)
c.9542C= (p.Pro3181=)
c.9428C= (p.Pro3143=)
c.9263C= (p.Pro3088=)
c.7412C= (p.Pro2471=)
c.5102C= (p.Pro1701=)
n.9801C=
18g.23950050C>GCA402051913LAMA3c.4706C>G (p.Pro1569Arg)
c.9533C>G (p.Pro3178Arg)
c.6128C>G (p.Pro2043Arg)
c.9365C>G (p.Pro3122Arg)
c.4538C>G (p.Pro1513Arg)
c.54C>G
n.4111C>G
c.9560C>G (p.Pro3187Arg)
c.9551C>G (p.Pro3184Arg)
c.9542C>G (p.Pro3181Arg)
c.9428C>G (p.Pro3143Arg)
c.9263C>G (p.Pro3088Arg)
c.7412C>G (p.Pro2471Arg)
c.5102C>G (p.Pro1701Arg)
n.9801C>G
18g.23950050C>TCA8917225LAMA3c.4706C>T (p.Pro1569Leu)
c.9533C>T (p.Pro3178Leu)
c.6128C>T (p.Pro2043Leu)
c.9365C>T (p.Pro3122Leu)
c.4538C>T (p.Pro1513Leu)
c.54C>T
n.4111C>T
c.9560C>T (p.Pro3187Leu)
c.9551C>T (p.Pro3184Leu)
c.9542C>T (p.Pro3181Leu)
c.9428C>T (p.Pro3143Leu)
c.9263C>T (p.Pro3088Leu)
c.7412C>T (p.Pro2471Leu)
c.5102C>T (p.Pro1701Leu)
n.9801C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.23950051A>CCA503522795LAMA3c.4707A>C (p.Pro1569=)
c.9534A>C (p.Pro3178=)
c.6129A>C (p.Pro2043=)
c.9366A>C (p.Pro3122=)
c.4539A>C (p.Pro1513=)
c.55A>C
n.4112A>C
c.9561A>C (p.Pro3187=)
c.9552A>C (p.Pro3184=)
c.9543A>C (p.Pro3181=)
c.9429A>C (p.Pro3143=)
c.9264A>C (p.Pro3088=)
c.7413A>C (p.Pro2471=)
c.5103A>C (p.Pro1701=)
n.9802A>C
18g.23950051A>GCA503522793LAMA3c.4707A>G (p.Pro1569=)
c.9534A>G (p.Pro3178=)
c.6129A>G (p.Pro2043=)
c.9366A>G (p.Pro3122=)
c.4539A>G (p.Pro1513=)
c.55A>G
n.4112A>G
c.9561A>G (p.Pro3187=)
c.9552A>G (p.Pro3184=)
c.9543A>G (p.Pro3181=)
c.9429A>G (p.Pro3143=)
c.9264A>G (p.Pro3088=)
c.7413A>G (p.Pro2471=)
c.5103A>G (p.Pro1701=)
n.9802A>G
18g.23950051A>TCA503522794LAMA3c.4707A>T (p.Pro1569=)
c.9534A>T (p.Pro3178=)
c.6129A>T (p.Pro2043=)
c.9366A>T (p.Pro3122=)
c.4539A>T (p.Pro1513=)
c.55A>T
n.4112A>T
c.9561A>T (p.Pro3187=)
c.9552A>T (p.Pro3184=)
c.9543A>T (p.Pro3181=)
c.9429A>T (p.Pro3143=)
c.9264A>T (p.Pro3088=)
c.7413A>T (p.Pro2471=)
c.5103A>T (p.Pro1701=)
n.9802A>T
18g.23950052G>ACA402051915LAMA3c.4708G>A (p.Glu1570Lys)
c.9535G>A (p.Glu3179Lys)
c.6130G>A (p.Glu2044Lys)
c.9367G>A (p.Glu3123Lys)
c.4540G>A (p.Glu1514Lys)
c.56G>A
n.4113G>A
c.9562G>A (p.Glu3188Lys)
c.9553G>A (p.Glu3185Lys)
c.9544G>A (p.Glu3182Lys)
c.9430G>A (p.Glu3144Lys)
c.9265G>A (p.Glu3089Lys)
c.7414G>A (p.Glu2472Lys)
c.5104G>A (p.Glu1702Lys)
n.9803G>A
 dbSNP
18g.23950052G>CCA402051916LAMA3c.4708G>C (p.Glu1570Gln)
c.9535G>C (p.Glu3179Gln)
c.6130G>C (p.Glu2044Gln)
c.9367G>C (p.Glu3123Gln)
c.4540G>C (p.Glu1514Gln)
c.56G>C
n.4113G>C
c.9562G>C (p.Glu3188Gln)
c.9553G>C (p.Glu3185Gln)
c.9544G>C (p.Glu3182Gln)
c.9430G>C (p.Glu3144Gln)
c.9265G>C (p.Glu3089Gln)
c.7414G>C (p.Glu2472Gln)
c.5104G>C (p.Glu1702Gln)
n.9803G>C
18g.23950052G>TCA402051917LAMA3c.4708G>T (p.Glu1570Ter)
c.9535G>T (p.Glu3179Ter)
c.6130G>T (p.Glu2044Ter)
c.9367G>T (p.Glu3123Ter)
c.4540G>T (p.Glu1514Ter)
c.56G>T
n.4113G>T
c.9562G>T (p.Glu3188Ter)
c.9553G>T (p.Glu3185Ter)
c.9544G>T (p.Glu3182Ter)
c.9430G>T (p.Glu3144Ter)
c.9265G>T (p.Glu3089Ter)
c.7414G>T (p.Glu2472Ter)
c.5104G>T (p.Glu1702Ter)
n.9803G>T
18g.23950053A>CCA402051918LAMA3c.4709A>C (p.Glu1570Ala)
c.9536A>C (p.Glu3179Ala)
c.6131A>C (p.Glu2044Ala)
c.9368A>C (p.Glu3123Ala)
c.4541A>C (p.Glu1514Ala)
c.57A>C
n.4114A>C
c.9563A>C (p.Glu3188Ala)
c.9554A>C (p.Glu3185Ala)
c.9545A>C (p.Glu3182Ala)
c.9431A>C (p.Glu3144Ala)
c.9266A>C (p.Glu3089Ala)
c.7415A>C (p.Glu2472Ala)
c.5105A>C (p.Glu1702Ala)
n.9804A>C
18g.23950053A>GCA402051919LAMA3c.4709A>G (p.Glu1570Gly)
c.9536A>G (p.Glu3179Gly)
c.6131A>G (p.Glu2044Gly)
c.9368A>G (p.Glu3123Gly)
c.4541A>G (p.Glu1514Gly)
c.57A>G
n.4114A>G
c.9563A>G (p.Glu3188Gly)
c.9554A>G (p.Glu3185Gly)
c.9545A>G (p.Glu3182Gly)
c.9431A>G (p.Glu3144Gly)
c.9266A>G (p.Glu3089Gly)
c.7415A>G (p.Glu2472Gly)
c.5105A>G (p.Glu1702Gly)
n.9804A>G
18g.23950053A>TCA402051920LAMA3c.4709A>T (p.Glu1570Val)
c.9536A>T (p.Glu3179Val)
c.6131A>T (p.Glu2044Val)
c.9368A>T (p.Glu3123Val)
c.4541A>T (p.Glu1514Val)
c.57A>T
n.4114A>T
c.9563A>T (p.Glu3188Val)
c.9554A>T (p.Glu3185Val)
c.9545A>T (p.Glu3182Val)
c.9431A>T (p.Glu3144Val)
c.9266A>T (p.Glu3089Val)
c.7415A>T (p.Glu2472Val)
c.5105A>T (p.Glu1702Val)
n.9804A>T
18g.23950054A>CCA402051921LAMA3c.4710A>C (p.Glu1570Asp)
c.9537A>C (p.Glu3179Asp)
c.6132A>C (p.Glu2044Asp)
c.9369A>C (p.Glu3123Asp)
c.4542A>C (p.Glu1514Asp)
c.58A>C
n.4115A>C
c.9564A>C (p.Glu3188Asp)
c.9555A>C (p.Glu3185Asp)
c.9546A>C (p.Glu3182Asp)
c.9432A>C (p.Glu3144Asp)
c.9267A>C (p.Glu3089Asp)
c.7416A>C (p.Glu2472Asp)
c.5106A>C (p.Glu1702Asp)
n.9805A>C
18g.23950054A>GCA503522799LAMA3c.4710A>G (p.Glu1570=)
c.9537A>G (p.Glu3179=)
c.6132A>G (p.Glu2044=)
c.9369A>G (p.Glu3123=)
c.4542A>G (p.Glu1514=)
c.58A>G
n.4115A>G
c.9564A>G (p.Glu3188=)
c.9555A>G (p.Glu3185=)
c.9546A>G (p.Glu3182=)
c.9432A>G (p.Glu3144=)
c.9267A>G (p.Glu3089=)
c.7416A>G (p.Glu2472=)
c.5106A>G (p.Glu1702=)
n.9805A>G
 gnomAD v4
18g.23950054A>TCA402051922LAMA3c.4710A>T (p.Glu1570Asp)
c.9537A>T (p.Glu3179Asp)
c.6132A>T (p.Glu2044Asp)
c.9369A>T (p.Glu3123Asp)
c.4542A>T (p.Glu1514Asp)
c.58A>T
n.4115A>T
c.9564A>T (p.Glu3188Asp)
c.9555A>T (p.Glu3185Asp)
c.9546A>T (p.Glu3182Asp)
c.9432A>T (p.Glu3144Asp)
c.9267A>T (p.Glu3089Asp)
c.7416A>T (p.Glu2472Asp)
c.5106A>T (p.Glu1702Asp)
n.9805A>T
18g.23950055T>ACA402051923LAMA3c.4711T>A (p.Phe1571Ile)
c.9538T>A (p.Phe3180Ile)
c.6133T>A (p.Phe2045Ile)
c.9370T>A (p.Phe3124Ile)
c.4543T>A (p.Phe1515Ile)
c.59T>A
n.4116T>A
c.9565T>A (p.Phe3189Ile)
c.9556T>A (p.Phe3186Ile)
c.9547T>A (p.Phe3183Ile)
c.9433T>A (p.Phe3145Ile)
c.9268T>A (p.Phe3090Ile)
c.7417T>A (p.Phe2473Ile)
c.5107T>A (p.Phe1703Ile)
n.9806T>A
18g.23950055T>CCA402051924LAMA3c.4711T>C (p.Phe1571Leu)
c.9538T>C (p.Phe3180Leu)
c.6133T>C (p.Phe2045Leu)
c.9370T>C (p.Phe3124Leu)
c.4543T>C (p.Phe1515Leu)
c.59T>C
n.4116T>C
c.9565T>C (p.Phe3189Leu)
c.9556T>C (p.Phe3186Leu)
c.9547T>C (p.Phe3183Leu)
c.9433T>C (p.Phe3145Leu)
c.9268T>C (p.Phe3090Leu)
c.7417T>C (p.Phe2473Leu)
c.5107T>C (p.Phe1703Leu)
n.9806T>C
18g.23950055T>GCA402051925LAMA3c.4711T>G (p.Phe1571Val)
c.9538T>G (p.Phe3180Val)
c.6133T>G (p.Phe2045Val)
c.9370T>G (p.Phe3124Val)
c.4543T>G (p.Phe1515Val)
c.59T>G
n.4116T>G
c.9565T>G (p.Phe3189Val)
c.9556T>G (p.Phe3186Val)
c.9547T>G (p.Phe3183Val)
c.9433T>G (p.Phe3145Val)
c.9268T>G (p.Phe3090Val)
c.7417T>G (p.Phe2473Val)
c.5107T>G (p.Phe1703Val)
n.9806T>G
18g.23950056T>ACA402051926LAMA3c.4712T>A (p.Phe1571Tyr)
c.9539T>A (p.Phe3180Tyr)
c.6134T>A (p.Phe2045Tyr)
c.9371T>A (p.Phe3124Tyr)
c.4544T>A (p.Phe1515Tyr)
c.60T>A
n.4117T>A
c.9566T>A (p.Phe3189Tyr)
c.9557T>A (p.Phe3186Tyr)
c.9548T>A (p.Phe3183Tyr)
c.9434T>A (p.Phe3145Tyr)
c.9269T>A (p.Phe3090Tyr)
c.7418T>A (p.Phe2473Tyr)
c.5108T>A (p.Phe1703Tyr)
n.9807T>A
18g.23950056T>CCA402051927LAMA3c.4712T>C (p.Phe1571Ser)
c.9539T>C (p.Phe3180Ser)
c.6134T>C (p.Phe2045Ser)
c.9371T>C (p.Phe3124Ser)
c.4544T>C (p.Phe1515Ser)
c.60T>C
n.4117T>C
c.9566T>C (p.Phe3189Ser)
c.9557T>C (p.Phe3186Ser)
c.9548T>C (p.Phe3183Ser)
c.9434T>C (p.Phe3145Ser)
c.9269T>C (p.Phe3090Ser)
c.7418T>C (p.Phe2473Ser)
c.5108T>C (p.Phe1703Ser)
n.9807T>C
18g.23950056T>GCA402051928LAMA3c.4712T>G (p.Phe1571Cys)
c.9539T>G (p.Phe3180Cys)
c.6134T>G (p.Phe2045Cys)
c.9371T>G (p.Phe3124Cys)
c.4544T>G (p.Phe1515Cys)
c.60T>G
n.4117T>G
c.9566T>G (p.Phe3189Cys)
c.9557T>G (p.Phe3186Cys)
c.9548T>G (p.Phe3183Cys)
c.9434T>G (p.Phe3145Cys)
c.9269T>G (p.Phe3090Cys)
c.7418T>G (p.Phe2473Cys)
c.5108T>G (p.Phe1703Cys)
n.9807T>G
18g.23950057T>ACA402051929LAMA3c.4713T>A (p.Phe1571Leu)
c.9540T>A (p.Phe3180Leu)
c.6135T>A (p.Phe2045Leu)
c.9372T>A (p.Phe3124Leu)
c.4545T>A (p.Phe1515Leu)
c.61T>A
n.4118T>A
c.9567T>A (p.Phe3189Leu)
c.9558T>A (p.Phe3186Leu)
c.9549T>A (p.Phe3183Leu)
c.9435T>A (p.Phe3145Leu)
c.9270T>A (p.Phe3090Leu)
c.7419T>A (p.Phe2473Leu)
c.5109T>A (p.Phe1703Leu)
n.9808T>A
18g.23950057T>CCA503522800LAMA3c.4713T>C (p.Phe1571=)
c.9540T>C (p.Phe3180=)
c.6135T>C (p.Phe2045=)
c.9372T>C (p.Phe3124=)
c.4545T>C (p.Phe1515=)
c.61T>C
n.4118T>C
c.9567T>C (p.Phe3189=)
c.9558T>C (p.Phe3186=)
c.9549T>C (p.Phe3183=)
c.9435T>C (p.Phe3145=)
c.9270T>C (p.Phe3090=)
c.7419T>C (p.Phe2473=)
c.5109T>C (p.Phe1703=)
n.9808T>C
18g.23950057T>GCA402051930LAMA3c.4713T>G (p.Phe1571Leu)
c.9540T>G (p.Phe3180Leu)
c.6135T>G (p.Phe2045Leu)
c.9372T>G (p.Phe3124Leu)
c.4545T>G (p.Phe1515Leu)
c.61T>G
n.4118T>G
c.9567T>G (p.Phe3189Leu)
c.9558T>G (p.Phe3186Leu)
c.9549T>G (p.Phe3183Leu)
c.9435T>G (p.Phe3145Leu)
c.9270T>G (p.Phe3090Leu)
c.7419T>G (p.Phe2473Leu)
c.5109T>G (p.Phe1703Leu)
n.9808T>G
18g.23950058A>CCA402051931LAMA3c.4714A>C (p.Lys1572Gln)
c.9541A>C (p.Lys3181Gln)
c.6136A>C (p.Lys2046Gln)
c.9373A>C (p.Lys3125Gln)
c.4546A>C (p.Lys1516Gln)
c.62A>C
n.4119A>C
c.9568A>C (p.Lys3190Gln)
c.9559A>C (p.Lys3187Gln)
c.9550A>C (p.Lys3184Gln)
c.9436A>C (p.Lys3146Gln)
c.9271A>C (p.Lys3091Gln)
c.7420A>C (p.Lys2474Gln)
c.5110A>C (p.Lys1704Gln)
n.9809A>C
18g.23950058A>GCA402051932LAMA3c.4714A>G (p.Lys1572Glu)
c.9541A>G (p.Lys3181Glu)
c.6136A>G (p.Lys2046Glu)
c.9373A>G (p.Lys3125Glu)
c.4546A>G (p.Lys1516Glu)
c.62A>G
n.4119A>G
c.9568A>G (p.Lys3190Glu)
c.9559A>G (p.Lys3187Glu)
c.9550A>G (p.Lys3184Glu)
c.9436A>G (p.Lys3146Glu)
c.9271A>G (p.Lys3091Glu)
c.7420A>G (p.Lys2474Glu)
c.5110A>G (p.Lys1704Glu)
n.9809A>G
18g.23950058A>TCA402051933LAMA3c.4714A>T (p.Lys1572Ter)
c.9541A>T (p.Lys3181Ter)
c.6136A>T (p.Lys2046Ter)
c.9373A>T (p.Lys3125Ter)
c.4546A>T (p.Lys1516Ter)
c.62A>T
n.4119A>T
c.9568A>T (p.Lys3190Ter)
c.9559A>T (p.Lys3187Ter)
c.9550A>T (p.Lys3184Ter)
c.9436A>T (p.Lys3146Ter)
c.9271A>T (p.Lys3091Ter)
c.7420A>T (p.Lys2474Ter)
c.5110A>T (p.Lys1704Ter)
n.9809A>T
18g.23950059A=CA2290344071LAMA3c.4715A= (p.Lys1572=)
c.9542A= (p.Lys3181=)
c.6137A= (p.Lys2046=)
c.9374A= (p.Lys3125=)
c.4547A= (p.Lys1516=)
c.63A=
n.4120A=
c.9569A= (p.Lys3190=)
c.9560A= (p.Lys3187=)
c.9551A= (p.Lys3184=)
c.9437A= (p.Lys3146=)
c.9272A= (p.Lys3091=)
c.7421A= (p.Lys2474=)
c.5111A= (p.Lys1704=)
n.9810A=
18g.23950059A>CCA402051934LAMA3c.4715A>C (p.Lys1572Thr)
c.9542A>C (p.Lys3181Thr)
c.6137A>C (p.Lys2046Thr)
c.9374A>C (p.Lys3125Thr)
c.4547A>C (p.Lys1516Thr)
c.63A>C
n.4120A>C
c.9569A>C (p.Lys3190Thr)
c.9560A>C (p.Lys3187Thr)
c.9551A>C (p.Lys3184Thr)
c.9437A>C (p.Lys3146Thr)
c.9272A>C (p.Lys3091Thr)
c.7421A>C (p.Lys2474Thr)
c.5111A>C (p.Lys1704Thr)
n.9810A>C
18g.23950059A>GCA297100353LAMA3c.4715A>G (p.Lys1572Arg)
c.9542A>G (p.Lys3181Arg)
c.6137A>G (p.Lys2046Arg)
c.9374A>G (p.Lys3125Arg)
c.4547A>G (p.Lys1516Arg)
c.63A>G
n.4120A>G
c.9569A>G (p.Lys3190Arg)
c.9560A>G (p.Lys3187Arg)
c.9551A>G (p.Lys3184Arg)
c.9437A>G (p.Lys3146Arg)
c.9272A>G (p.Lys3091Arg)
c.7421A>G (p.Lys2474Arg)
c.5111A>G (p.Lys1704Arg)
n.9810A>G
 dbSNP gnomAD v2 gnomAD v4
18g.23950059A>TCA402051935LAMA3c.4715A>T (p.Lys1572Met)
c.9542A>T (p.Lys3181Met)
c.6137A>T (p.Lys2046Met)
c.9374A>T (p.Lys3125Met)
c.4547A>T (p.Lys1516Met)
c.63A>T
n.4120A>T
c.9569A>T (p.Lys3190Met)
c.9560A>T (p.Lys3187Met)
c.9551A>T (p.Lys3184Met)
c.9437A>T (p.Lys3146Met)
c.9272A>T (p.Lys3091Met)
c.7421A>T (p.Lys2474Met)
c.5111A>T (p.Lys1704Met)
n.9810A>T
18g.23950060G>ACA8917226LAMA3c.4716G>A (p.Lys1572=)
c.9543G>A (p.Lys3181=)
c.6138G>A (p.Lys2046=)
c.9375G>A (p.Lys3125=)
c.4548G>A (p.Lys1516=)
c.64G>A
n.4121G>A
c.9570G>A (p.Lys3190=)
c.9561G>A (p.Lys3187=)
c.9552G>A (p.Lys3184=)
c.9438G>A (p.Lys3146=)
c.9273G>A (p.Lys3091=)
c.7422G>A (p.Lys2474=)
c.5112G>A (p.Lys1704=)
n.9811G>A
 dbSNP ExAC gnomAD v2
18g.23950060G>CCA402051936LAMA3c.4716G>C (p.Lys1572Asn)
c.9543G>C (p.Lys3181Asn)
c.6138G>C (p.Lys2046Asn)
c.9375G>C (p.Lys3125Asn)
c.4548G>C (p.Lys1516Asn)
c.64G>C
n.4121G>C
c.9570G>C (p.Lys3190Asn)
c.9561G>C (p.Lys3187Asn)
c.9552G>C (p.Lys3184Asn)
c.9438G>C (p.Lys3146Asn)
c.9273G>C (p.Lys3091Asn)
c.7422G>C (p.Lys2474Asn)
c.5112G>C (p.Lys1704Asn)
n.9811G>C
18g.23950060G=CA2290344074LAMA3c.4716G= (p.Lys1572=)
c.9543G= (p.Lys3181=)
c.6138G= (p.Lys2046=)
c.9375G= (p.Lys3125=)
c.4548G= (p.Lys1516=)
c.64G=
n.4121G=
c.9570G= (p.Lys3190=)
c.9561G= (p.Lys3187=)
c.9552G= (p.Lys3184=)
c.9438G= (p.Lys3146=)
c.9273G= (p.Lys3091=)
c.7422G= (p.Lys2474=)
c.5112G= (p.Lys1704=)
n.9811G=
18g.23950060G>TCA402051937LAMA3c.4716G>T (p.Lys1572Asn)
c.9543G>T (p.Lys3181Asn)
c.6138G>T (p.Lys2046Asn)
c.9375G>T (p.Lys3125Asn)
c.4548G>T (p.Lys1516Asn)
c.64G>T
n.4121G>T
c.9570G>T (p.Lys3190Asn)
c.9561G>T (p.Lys3187Asn)
c.9552G>T (p.Lys3184Asn)
c.9438G>T (p.Lys3146Asn)
c.9273G>T (p.Lys3091Asn)
c.7422G>T (p.Lys2474Asn)
c.5112G>T (p.Lys1704Asn)
n.9811G>T
18g.23950061C>ACA402051938LAMA3c.4717C>A (p.Leu1573Ile)
c.9544C>A (p.Leu3182Ile)
c.6139C>A (p.Leu2047Ile)
c.9376C>A (p.Leu3126Ile)
c.4549C>A (p.Leu1517Ile)
c.65C>A
n.4122C>A
c.9571C>A (p.Leu3191Ile)
c.9562C>A (p.Leu3188Ile)
c.9553C>A (p.Leu3185Ile)
c.9439C>A (p.Leu3147Ile)
c.9274C>A (p.Leu3092Ile)
c.7423C>A (p.Leu2475Ile)
c.5113C>A (p.Leu1705Ile)
n.9812C>A
18g.23950061C>GCA402051939LAMA3c.4717C>G (p.Leu1573Val)
c.9544C>G (p.Leu3182Val)
c.6139C>G (p.Leu2047Val)
c.9376C>G (p.Leu3126Val)
c.4549C>G (p.Leu1517Val)
c.65C>G
n.4122C>G
c.9571C>G (p.Leu3191Val)
c.9562C>G (p.Leu3188Val)
c.9553C>G (p.Leu3185Val)
c.9439C>G (p.Leu3147Val)
c.9274C>G (p.Leu3092Val)
c.7423C>G (p.Leu2475Val)
c.5113C>G (p.Leu1705Val)
n.9812C>G
18g.23950061C>TCA402051940LAMA3c.4717C>T (p.Leu1573Phe)
c.9544C>T (p.Leu3182Phe)
c.6139C>T (p.Leu2047Phe)
c.9376C>T (p.Leu3126Phe)
c.4549C>T (p.Leu1517Phe)
c.65C>T
n.4122C>T
c.9571C>T (p.Leu3191Phe)
c.9562C>T (p.Leu3188Phe)
c.9553C>T (p.Leu3185Phe)
c.9439C>T (p.Leu3147Phe)
c.9274C>T (p.Leu3092Phe)
c.7423C>T (p.Leu2475Phe)
c.5113C>T (p.Leu1705Phe)
n.9812C>T
 gnomAD v4
18g.23950062T>ACA402051942LAMA3c.4718T>A (p.Leu1573His)
c.9545T>A (p.Leu3182His)
c.6140T>A (p.Leu2047His)
c.9377T>A (p.Leu3126His)
c.4550T>A (p.Leu1517His)
c.66T>A
n.4123T>A
c.9572T>A (p.Leu3191His)
c.9563T>A (p.Leu3188His)
c.9554T>A (p.Leu3185His)
c.9440T>A (p.Leu3147His)
c.9275T>A (p.Leu3092His)
c.7424T>A (p.Leu2475His)
c.5114T>A (p.Leu1705His)
n.9813T>A
18g.23950062T>CCA402051943LAMA3c.4718T>C (p.Leu1573Pro)
c.9545T>C (p.Leu3182Pro)
c.6140T>C (p.Leu2047Pro)
c.9377T>C (p.Leu3126Pro)
c.4550T>C (p.Leu1517Pro)
c.66T>C
n.4123T>C
c.9572T>C (p.Leu3191Pro)
c.9563T>C (p.Leu3188Pro)
c.9554T>C (p.Leu3185Pro)
c.9440T>C (p.Leu3147Pro)
c.9275T>C (p.Leu3092Pro)
c.7424T>C (p.Leu2475Pro)
c.5114T>C (p.Leu1705Pro)
n.9813T>C
18g.23950062T>GCA402051941LAMA3c.4718T>G (p.Leu1573Arg)
c.9545T>G (p.Leu3182Arg)
c.6140T>G (p.Leu2047Arg)
c.9377T>G (p.Leu3126Arg)
c.4550T>G (p.Leu1517Arg)
c.66T>G
n.4123T>G
c.9572T>G (p.Leu3191Arg)
c.9563T>G (p.Leu3188Arg)
c.9554T>G (p.Leu3185Arg)
c.9440T>G (p.Leu3147Arg)
c.9275T>G (p.Leu3092Arg)
c.7424T>G (p.Leu2475Arg)
c.5114T>G (p.Leu1705Arg)
n.9813T>G
18g.23950063T>ACA503522803LAMA3c.4719T>A (p.Leu1573=)
c.9546T>A (p.Leu3182=)
c.6141T>A (p.Leu2047=)
c.9378T>A (p.Leu3126=)
c.4551T>A (p.Leu1517=)
c.67T>A
n.4124T>A
c.9573T>A (p.Leu3191=)
c.9564T>A (p.Leu3188=)
c.9555T>A (p.Leu3185=)
c.9441T>A (p.Leu3147=)
c.9276T>A (p.Leu3092=)
c.7425T>A (p.Leu2475=)
c.5115T>A (p.Leu1705=)
n.9814T>A
18g.23950063T>CCA503522805LAMA3c.4719T>C (p.Leu1573=)
c.9546T>C (p.Leu3182=)
c.6141T>C (p.Leu2047=)
c.9378T>C (p.Leu3126=)
c.4551T>C (p.Leu1517=)
c.67T>C
n.4124T>C
c.9573T>C (p.Leu3191=)
c.9564T>C (p.Leu3188=)
c.9555T>C (p.Leu3185=)
c.9441T>C (p.Leu3147=)
c.9276T>C (p.Leu3092=)
c.7425T>C (p.Leu2475=)
c.5115T>C (p.Leu1705=)
n.9814T>C
 ClinVar dbSNP
18g.23950063T>GCA503522804LAMA3c.4719T>G (p.Leu1573=)
c.9546T>G (p.Leu3182=)
c.6141T>G (p.Leu2047=)
c.9378T>G (p.Leu3126=)
c.4551T>G (p.Leu1517=)
c.67T>G
n.4124T>G
c.9573T>G (p.Leu3191=)
c.9564T>G (p.Leu3188=)
c.9555T>G (p.Leu3185=)
c.9441T>G (p.Leu3147=)
c.9276T>G (p.Leu3092=)
c.7425T>G (p.Leu2475=)
c.5115T>G (p.Leu1705=)
n.9814T>G
18g.23950064G>ACA402051945LAMA3c.4720G>A (p.Val1574Ile)
c.9547G>A (p.Val3183Ile)
c.6142G>A (p.Val2048Ile)
c.9379G>A (p.Val3127Ile)
c.4552G>A (p.Val1518Ile)
c.68G>A
n.4125G>A
c.9574G>A (p.Val3192Ile)
c.9565G>A (p.Val3189Ile)
c.9556G>A (p.Val3186Ile)
c.9442G>A (p.Val3148Ile)
c.9277G>A (p.Val3093Ile)
c.7426G>A (p.Val2476Ile)
c.5116G>A (p.Val1706Ile)
n.9815G>A
18g.23950064G>CCA402051944LAMA3c.4720G>C (p.Val1574Leu)
c.9547G>C (p.Val3183Leu)
c.6142G>C (p.Val2048Leu)
c.9379G>C (p.Val3127Leu)
c.4552G>C (p.Val1518Leu)
c.68G>C
n.4125G>C
c.9574G>C (p.Val3192Leu)
c.9565G>C (p.Val3189Leu)
c.9556G>C (p.Val3186Leu)
c.9442G>C (p.Val3148Leu)
c.9277G>C (p.Val3093Leu)
c.7426G>C (p.Val2476Leu)
c.5116G>C (p.Val1706Leu)
n.9815G>C
18g.23950064G>TCA402051946LAMA3c.4720G>T (p.Val1574Phe)
c.9547G>T (p.Val3183Phe)
c.6142G>T (p.Val2048Phe)
c.9379G>T (p.Val3127Phe)
c.4552G>T (p.Val1518Phe)
c.68G>T
n.4125G>T
c.9574G>T (p.Val3192Phe)
c.9565G>T (p.Val3189Phe)
c.9556G>T (p.Val3186Phe)
c.9442G>T (p.Val3148Phe)
c.9277G>T (p.Val3093Phe)
c.7426G>T (p.Val2476Phe)
c.5116G>T (p.Val1706Phe)
n.9815G>T
18g.23950065T>ACA402051947LAMA3c.4721T>A (p.Val1574Asp)
c.9548T>A (p.Val3183Asp)
c.6143T>A (p.Val2048Asp)
c.9380T>A (p.Val3127Asp)
c.4553T>A (p.Val1518Asp)
c.69T>A
n.4126T>A
c.9575T>A (p.Val3192Asp)
c.9566T>A (p.Val3189Asp)
c.9557T>A (p.Val3186Asp)
c.9443T>A (p.Val3148Asp)
c.9278T>A (p.Val3093Asp)
c.7427T>A (p.Val2476Asp)
c.5117T>A (p.Val1706Asp)
n.9816T>A
18g.23950065T>CCA402051948LAMA3c.4721T>C (p.Val1574Ala)
c.9548T>C (p.Val3183Ala)
c.6143T>C (p.Val2048Ala)
c.9380T>C (p.Val3127Ala)
c.4553T>C (p.Val1518Ala)
c.69T>C
n.4126T>C
c.9575T>C (p.Val3192Ala)
c.9566T>C (p.Val3189Ala)
c.9557T>C (p.Val3186Ala)
c.9443T>C (p.Val3148Ala)
c.9278T>C (p.Val3093Ala)
c.7427T>C (p.Val2476Ala)
c.5117T>C (p.Val1706Ala)
n.9816T>C
18g.23950065T>GCA402051949LAMA3c.4721T>G (p.Val1574Gly)
c.9548T>G (p.Val3183Gly)
c.6143T>G (p.Val2048Gly)
c.9380T>G (p.Val3127Gly)
c.4553T>G (p.Val1518Gly)
c.69T>G
n.4126T>G
c.9575T>G (p.Val3192Gly)
c.9566T>G (p.Val3189Gly)
c.9557T>G (p.Val3186Gly)
c.9443T>G (p.Val3148Gly)
c.9278T>G (p.Val3093Gly)
c.7427T>G (p.Val2476Gly)
c.5117T>G (p.Val1706Gly)
n.9816T>G
18g.23950066T>ACA503522806LAMA3c.4722T>A (p.Val1574=)
c.9549T>A (p.Val3183=)
c.6144T>A (p.Val2048=)
c.9381T>A (p.Val3127=)
c.4554T>A (p.Val1518=)
c.70T>A
n.4127T>A
c.9576T>A (p.Val3192=)
c.9567T>A (p.Val3189=)
c.9558T>A (p.Val3186=)
c.9444T>A (p.Val3148=)
c.9279T>A (p.Val3093=)
c.7428T>A (p.Val2476=)
c.5118T>A (p.Val1706=)
n.9817T>A
18g.23950066T>CCA503522807LAMA3c.4722T>C (p.Val1574=)
c.9549T>C (p.Val3183=)
c.6144T>C (p.Val2048=)
c.9381T>C (p.Val3127=)
c.4554T>C (p.Val1518=)
c.70T>C
n.4127T>C
c.9576T>C (p.Val3192=)
c.9567T>C (p.Val3189=)
c.9558T>C (p.Val3186=)
c.9444T>C (p.Val3148=)
c.9279T>C (p.Val3093=)
c.7428T>C (p.Val2476=)
c.5118T>C (p.Val1706=)
n.9817T>C
18g.23950066T>GCA503522808LAMA3c.4722T>G (p.Val1574=)
c.9549T>G (p.Val3183=)
c.6144T>G (p.Val2048=)
c.9381T>G (p.Val3127=)
c.4554T>G (p.Val1518=)
c.70T>G
n.4127T>G
c.9576T>G (p.Val3192=)
c.9567T>G (p.Val3189=)
c.9558T>G (p.Val3186=)
c.9444T>G (p.Val3148=)
c.9279T>G (p.Val3093=)
c.7428T>G (p.Val2476=)
c.5118T>G (p.Val1706=)
n.9817T>G
18g.23950067T>ACA402051950LAMA3c.4723T>A (p.Phe1575Ile)
c.9550T>A (p.Phe3184Ile)
c.6145T>A (p.Phe2049Ile)
c.9382T>A (p.Phe3128Ile)
c.4555T>A (p.Phe1519Ile)
c.71T>A
n.4128T>A
c.9577T>A (p.Phe3193Ile)
c.9568T>A (p.Phe3190Ile)
c.9559T>A (p.Phe3187Ile)
c.9445T>A (p.Phe3149Ile)
c.9280T>A (p.Phe3094Ile)
c.7429T>A (p.Phe2477Ile)
c.5119T>A (p.Phe1707Ile)
n.9818T>A
18g.23950067T>CCA402051951LAMA3c.4723T>C (p.Phe1575Leu)
c.9550T>C (p.Phe3184Leu)
c.6145T>C (p.Phe2049Leu)
c.9382T>C (p.Phe3128Leu)
c.4555T>C (p.Phe1519Leu)
c.71T>C
n.4128T>C
c.9577T>C (p.Phe3193Leu)
c.9568T>C (p.Phe3190Leu)
c.9559T>C (p.Phe3187Leu)
c.9445T>C (p.Phe3149Leu)
c.9280T>C (p.Phe3094Leu)
c.7429T>C (p.Phe2477Leu)
c.5119T>C (p.Phe1707Leu)
n.9818T>C
18g.23950067T>GCA402051952LAMA3c.4723T>G (p.Phe1575Val)
c.9550T>G (p.Phe3184Val)
c.6145T>G (p.Phe2049Val)
c.9382T>G (p.Phe3128Val)
c.4555T>G (p.Phe1519Val)
c.71T>G
n.4128T>G
c.9577T>G (p.Phe3193Val)
c.9568T>G (p.Phe3190Val)
c.9559T>G (p.Phe3187Val)
c.9445T>G (p.Phe3149Val)
c.9280T>G (p.Phe3094Val)
c.7429T>G (p.Phe2477Val)
c.5119T>G (p.Phe1707Val)
n.9818T>G
18g.23950068T>ACA402051953LAMA3c.4724T>A (p.Phe1575Tyr)
c.9551T>A (p.Phe3184Tyr)
c.6146T>A (p.Phe2049Tyr)
c.9383T>A (p.Phe3128Tyr)
c.4556T>A (p.Phe1519Tyr)
c.72T>A
n.4129T>A
c.9578T>A (p.Phe3193Tyr)
c.9569T>A (p.Phe3190Tyr)
c.9560T>A (p.Phe3187Tyr)
c.9446T>A (p.Phe3149Tyr)
c.9281T>A (p.Phe3094Tyr)
c.7430T>A (p.Phe2477Tyr)
c.5120T>A (p.Phe1707Tyr)
n.9819T>A
18g.23950068T>CCA402051954LAMA3c.4724T>C (p.Phe1575Ser)
c.9551T>C (p.Phe3184Ser)
c.6146T>C (p.Phe2049Ser)
c.9383T>C (p.Phe3128Ser)
c.4556T>C (p.Phe1519Ser)
c.72T>C
n.4129T>C
c.9578T>C (p.Phe3193Ser)
c.9569T>C (p.Phe3190Ser)
c.9560T>C (p.Phe3187Ser)
c.9446T>C (p.Phe3149Ser)
c.9281T>C (p.Phe3094Ser)
c.7430T>C (p.Phe2477Ser)
c.5120T>C (p.Phe1707Ser)
n.9819T>C
18g.23950068T>GCA402051955LAMA3c.4724T>G (p.Phe1575Cys)
c.9551T>G (p.Phe3184Cys)
c.6146T>G (p.Phe2049Cys)
c.9383T>G (p.Phe3128Cys)
c.4556T>G (p.Phe1519Cys)
c.72T>G
n.4129T>G
c.9578T>G (p.Phe3193Cys)
c.9569T>G (p.Phe3190Cys)
c.9560T>G (p.Phe3187Cys)
c.9446T>G (p.Phe3149Cys)
c.9281T>G (p.Phe3094Cys)
c.7430T>G (p.Phe2477Cys)
c.5120T>G (p.Phe1707Cys)
n.9819T>G
18g.23950069C>ACA402051956LAMA3c.4725C>A (p.Phe1575Leu)
c.9552C>A (p.Phe3184Leu)
c.6147C>A (p.Phe2049Leu)
c.9384C>A (p.Phe3128Leu)
c.4557C>A (p.Phe1519Leu)
c.73C>A
n.4130C>A
c.9579C>A (p.Phe3193Leu)
c.9570C>A (p.Phe3190Leu)
c.9561C>A (p.Phe3187Leu)
c.9447C>A (p.Phe3149Leu)
c.9282C>A (p.Phe3094Leu)
c.7431C>A (p.Phe2477Leu)
c.5121C>A (p.Phe1707Leu)
n.9820C>A
18g.23950069C>GCA402051957LAMA3c.4725C>G (p.Phe1575Leu)
c.9552C>G (p.Phe3184Leu)
c.6147C>G (p.Phe2049Leu)
c.9384C>G (p.Phe3128Leu)
c.4557C>G (p.Phe1519Leu)
c.73C>G
n.4130C>G
c.9579C>G (p.Phe3193Leu)
c.9570C>G (p.Phe3190Leu)
c.9561C>G (p.Phe3187Leu)
c.9447C>G (p.Phe3149Leu)
c.9282C>G (p.Phe3094Leu)
c.7431C>G (p.Phe2477Leu)
c.5121C>G (p.Phe1707Leu)
n.9820C>G
18g.23950069C>TCA503522812LAMA3c.4725C>T (p.Phe1575=)
c.9552C>T (p.Phe3184=)
c.6147C>T (p.Phe2049=)
c.9384C>T (p.Phe3128=)
c.4557C>T (p.Phe1519=)
c.73C>T
n.4130C>T
c.9579C>T (p.Phe3193=)
c.9570C>T (p.Phe3190=)
c.9561C>T (p.Phe3187=)
c.9447C>T (p.Phe3149=)
c.9282C>T (p.Phe3094=)
c.7431C>T (p.Phe2477=)
c.5121C>T (p.Phe1707=)
n.9820C>T
 ClinVar dbSNP
18g.23950070A=CA2290344077LAMA3c.4726A= (p.Ser1576=)
c.9553A= (p.Ser3185=)
c.6148A= (p.Ser2050=)
c.9385A= (p.Ser3129=)
c.4558A= (p.Ser1520=)
c.74A=
n.4131A=
c.9580A= (p.Ser3194=)
c.9571A= (p.Ser3191=)
c.9562A= (p.Ser3188=)
c.9448A= (p.Ser3150=)
c.9283A= (p.Ser3095=)
c.7432A= (p.Ser2478=)
c.5122A= (p.Ser1708=)
n.9821A=
18g.23950070A>CCA402051960LAMA3c.4726A>C (p.Ser1576Arg)
c.9553A>C (p.Ser3185Arg)
c.6148A>C (p.Ser2050Arg)
c.9385A>C (p.Ser3129Arg)
c.4558A>C (p.Ser1520Arg)
c.74A>C
n.4131A>C
c.9580A>C (p.Ser3194Arg)
c.9571A>C (p.Ser3191Arg)
c.9562A>C (p.Ser3188Arg)
c.9448A>C (p.Ser3150Arg)
c.9283A>C (p.Ser3095Arg)
c.7432A>C (p.Ser2478Arg)
c.5122A>C (p.Ser1708Arg)
n.9821A>C
18g.23950070A>GCA402051959LAMA3c.4726A>G (p.Ser1576Gly)
c.9553A>G (p.Ser3185Gly)
c.6148A>G (p.Ser2050Gly)
c.9385A>G (p.Ser3129Gly)
c.4558A>G (p.Ser1520Gly)
c.74A>G
n.4131A>G
c.9580A>G (p.Ser3194Gly)
c.9571A>G (p.Ser3191Gly)
c.9562A>G (p.Ser3188Gly)
c.9448A>G (p.Ser3150Gly)
c.9283A>G (p.Ser3095Gly)
c.7432A>G (p.Ser2478Gly)
c.5122A>G (p.Ser1708Gly)
n.9821A>G
 gnomAD v4
18g.23950070A>TCA402051958LAMA3c.4726A>T (p.Ser1576Cys)
c.9553A>T (p.Ser3185Cys)
c.6148A>T (p.Ser2050Cys)
c.9385A>T (p.Ser3129Cys)
c.4558A>T (p.Ser1520Cys)
c.74A>T
n.4131A>T
c.9580A>T (p.Ser3194Cys)
c.9571A>T (p.Ser3191Cys)
c.9562A>T (p.Ser3188Cys)
c.9448A>T (p.Ser3150Cys)
c.9283A>T (p.Ser3095Cys)
c.7432A>T (p.Ser2478Cys)
c.5122A>T (p.Ser1708Cys)
n.9821A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23950071G>ACA402051961LAMA3c.4727G>A (p.Ser1576Asn)
c.9554G>A (p.Ser3185Asn)
c.6149G>A (p.Ser2050Asn)
c.9386G>A (p.Ser3129Asn)
c.4559G>A (p.Ser1520Asn)
c.75G>A
n.4132G>A
c.9581G>A (p.Ser3194Asn)
c.9572G>A (p.Ser3191Asn)
c.9563G>A (p.Ser3188Asn)
c.9449G>A (p.Ser3150Asn)
c.9284G>A (p.Ser3095Asn)
c.7433G>A (p.Ser2478Asn)
c.5123G>A (p.Ser1708Asn)
n.9822G>A
18g.23950071G>CCA402051962LAMA3c.4727G>C (p.Ser1576Thr)
c.9554G>C (p.Ser3185Thr)
c.6149G>C (p.Ser2050Thr)
c.9386G>C (p.Ser3129Thr)
c.4559G>C (p.Ser1520Thr)
c.75G>C
n.4132G>C
c.9581G>C (p.Ser3194Thr)
c.9572G>C (p.Ser3191Thr)
c.9563G>C (p.Ser3188Thr)
c.9449G>C (p.Ser3150Thr)
c.9284G>C (p.Ser3095Thr)
c.7433G>C (p.Ser2478Thr)
c.5123G>C (p.Ser1708Thr)
n.9822G>C
18g.23950071G=CA2290344080LAMA3c.4727G= (p.Ser1576=)
c.9554G= (p.Ser3185=)
c.6149G= (p.Ser2050=)
c.9386G= (p.Ser3129=)
c.4559G= (p.Ser1520=)
c.75G=
n.4132G=
c.9581G= (p.Ser3194=)
c.9572G= (p.Ser3191=)
c.9563G= (p.Ser3188=)
c.9449G= (p.Ser3150=)
c.9284G= (p.Ser3095=)
c.7433G= (p.Ser2478=)
c.5123G= (p.Ser1708=)
n.9822G=
18g.23950071G>TCA402051963LAMA3c.4727G>T (p.Ser1576Ile)
c.9554G>T (p.Ser3185Ile)
c.6149G>T (p.Ser2050Ile)
c.9386G>T (p.Ser3129Ile)
c.4559G>T (p.Ser1520Ile)
c.75G>T
n.4132G>T
c.9581G>T (p.Ser3194Ile)
c.9572G>T (p.Ser3191Ile)
c.9563G>T (p.Ser3188Ile)
c.9449G>T (p.Ser3150Ile)
c.9284G>T (p.Ser3095Ile)
c.7433G>T (p.Ser2478Ile)
c.5123G>T (p.Ser1708Ile)
n.9822G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23950072C>ACA402051964LAMA3c.4728C>A (p.Ser1576Arg)
c.9555C>A (p.Ser3185Arg)
c.6150C>A (p.Ser2050Arg)
c.9387C>A (p.Ser3129Arg)
c.4560C>A (p.Ser1520Arg)
c.76C>A
n.4133C>A
c.9582C>A (p.Ser3194Arg)
c.9573C>A (p.Ser3191Arg)
c.9564C>A (p.Ser3188Arg)
c.9450C>A (p.Ser3150Arg)
c.9285C>A (p.Ser3095Arg)
c.7434C>A (p.Ser2478Arg)
c.5124C>A (p.Ser1708Arg)
n.9823C>A
18g.23950072C=CA2290344083LAMA3c.4728C= (p.Ser1576=)
c.9555C= (p.Ser3185=)
c.6150C= (p.Ser2050=)
c.9387C= (p.Ser3129=)
c.4560C= (p.Ser1520=)
c.76C=
n.4133C=
c.9582C= (p.Ser3194=)
c.9573C= (p.Ser3191=)
c.9564C= (p.Ser3188=)
c.9450C= (p.Ser3150=)
c.9285C= (p.Ser3095=)
c.7434C= (p.Ser2478=)
c.5124C= (p.Ser1708=)
n.9823C=
18g.23950072C>GCA402051965LAMA3c.4728C>G (p.Ser1576Arg)
c.9555C>G (p.Ser3185Arg)
c.6150C>G (p.Ser2050Arg)
c.9387C>G (p.Ser3129Arg)
c.4560C>G (p.Ser1520Arg)
c.76C>G
n.4133C>G
c.9582C>G (p.Ser3194Arg)
c.9573C>G (p.Ser3191Arg)
c.9564C>G (p.Ser3188Arg)
c.9450C>G (p.Ser3150Arg)
c.9285C>G (p.Ser3095Arg)
c.7434C>G (p.Ser2478Arg)
c.5124C>G (p.Ser1708Arg)
n.9823C>G
18g.23950072C>TCA503522813LAMA3c.4728C>T (p.Ser1576=)
c.9555C>T (p.Ser3185=)
c.6150C>T (p.Ser2050=)
c.9387C>T (p.Ser3129=)
c.4560C>T (p.Ser1520=)
c.76C>T
n.4133C>T
c.9582C>T (p.Ser3194=)
c.9573C>T (p.Ser3191=)
c.9564C>T (p.Ser3188=)
c.9450C>T (p.Ser3150=)
c.9285C>T (p.Ser3095=)
c.7434C>T (p.Ser2478=)
c.5124C>T (p.Ser1708=)
n.9823C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23950073A>CCA402051966LAMA3c.4729A>C (p.Ile1577Leu)
c.9556A>C (p.Ile3186Leu)
c.6151A>C (p.Ile2051Leu)
c.9388A>C (p.Ile3130Leu)
c.4561A>C (p.Ile1521Leu)
c.77A>C
n.4134A>C
c.9583A>C (p.Ile3195Leu)
c.9574A>C (p.Ile3192Leu)
c.9565A>C (p.Ile3189Leu)
c.9451A>C (p.Ile3151Leu)
c.9286A>C (p.Ile3096Leu)
c.7435A>C (p.Ile2479Leu)
c.5125A>C (p.Ile1709Leu)
n.9824A>C
18g.23950073A>GCA402051967LAMA3c.4729A>G (p.Ile1577Val)
c.9556A>G (p.Ile3186Val)
c.6151A>G (p.Ile2051Val)
c.9388A>G (p.Ile3130Val)
c.4561A>G (p.Ile1521Val)
c.77A>G
n.4134A>G
c.9583A>G (p.Ile3195Val)
c.9574A>G (p.Ile3192Val)
c.9565A>G (p.Ile3189Val)
c.9451A>G (p.Ile3151Val)
c.9286A>G (p.Ile3096Val)
c.7435A>G (p.Ile2479Val)
c.5125A>G (p.Ile1709Val)
n.9824A>G
18g.23950073A>TCA402051968LAMA3c.4729A>T (p.Ile1577Phe)
c.9556A>T (p.Ile3186Phe)
c.6151A>T (p.Ile2051Phe)
c.9388A>T (p.Ile3130Phe)
c.4561A>T (p.Ile1521Phe)
c.77A>T
n.4134A>T
c.9583A>T (p.Ile3195Phe)
c.9574A>T (p.Ile3192Phe)
c.9565A>T (p.Ile3189Phe)
c.9451A>T (p.Ile3151Phe)
c.9286A>T (p.Ile3096Phe)
c.7435A>T (p.Ile2479Phe)
c.5125A>T (p.Ile1709Phe)
n.9824A>T
18g.23950074T>ACA402051969LAMA3c.4730T>A (p.Ile1577Asn)
c.9557T>A (p.Ile3186Asn)
c.6152T>A (p.Ile2051Asn)
c.9389T>A (p.Ile3130Asn)
c.4562T>A (p.Ile1521Asn)
c.78T>A
n.4135T>A
c.9584T>A (p.Ile3195Asn)
c.9575T>A (p.Ile3192Asn)
c.9566T>A (p.Ile3189Asn)
c.9452T>A (p.Ile3151Asn)
c.9287T>A (p.Ile3096Asn)
c.7436T>A (p.Ile2479Asn)
c.5126T>A (p.Ile1709Asn)
n.9825T>A
 gnomAD v4
18g.23950074T>CCA402051970LAMA3c.4730T>C (p.Ile1577Thr)
c.9557T>C (p.Ile3186Thr)
c.6152T>C (p.Ile2051Thr)
c.9389T>C (p.Ile3130Thr)
c.4562T>C (p.Ile1521Thr)
c.78T>C
n.4135T>C
c.9584T>C (p.Ile3195Thr)
c.9575T>C (p.Ile3192Thr)
c.9566T>C (p.Ile3189Thr)
c.9452T>C (p.Ile3151Thr)
c.9287T>C (p.Ile3096Thr)
c.7436T>C (p.Ile2479Thr)
c.5126T>C (p.Ile1709Thr)
n.9825T>C
 ClinVar dbSNP
18g.23950074T>GCA402051971LAMA3c.4730T>G (p.Ile1577Ser)
c.9557T>G (p.Ile3186Ser)
c.6152T>G (p.Ile2051Ser)
c.9389T>G (p.Ile3130Ser)
c.4562T>G (p.Ile1521Ser)
c.78T>G
n.4135T>G
c.9584T>G (p.Ile3195Ser)
c.9575T>G (p.Ile3192Ser)
c.9566T>G (p.Ile3189Ser)
c.9452T>G (p.Ile3151Ser)
c.9287T>G (p.Ile3096Ser)
c.7436T>G (p.Ile2479Ser)
c.5126T>G (p.Ile1709Ser)
n.9825T>G
18g.23950074T=CA2290344088LAMA3c.4730T= (p.Ile1577=)
c.9557T= (p.Ile3186=)
c.6152T= (p.Ile2051=)
c.9389T= (p.Ile3130=)
c.4562T= (p.Ile1521=)
c.78T=
n.4135T=
c.9584T= (p.Ile3195=)
c.9575T= (p.Ile3192=)
c.9566T= (p.Ile3189=)
c.9452T= (p.Ile3151=)
c.9287T= (p.Ile3096=)
c.7436T= (p.Ile2479=)
c.5126T= (p.Ile1709=)
n.9825T=
18g.23950075C>ACA503522814LAMA3c.4731C>A (p.Ile1577=)
c.9558C>A (p.Ile3186=)
c.6153C>A (p.Ile2051=)
c.9390C>A (p.Ile3130=)
c.4563C>A (p.Ile1521=)
c.79C>A
n.4136C>A
c.9585C>A (p.Ile3195=)
c.9576C>A (p.Ile3192=)
c.9567C>A (p.Ile3189=)
c.9453C>A (p.Ile3151=)
c.9288C>A (p.Ile3096=)
c.7437C>A (p.Ile2479=)
c.5127C>A (p.Ile1709=)
n.9826C>A
18g.23950075C>GCA402051972LAMA3c.4731C>G (p.Ile1577Met)
c.9558C>G (p.Ile3186Met)
c.6153C>G (p.Ile2051Met)
c.9390C>G (p.Ile3130Met)
c.4563C>G (p.Ile1521Met)
c.79C>G
n.4136C>G
c.9585C>G (p.Ile3195Met)
c.9576C>G (p.Ile3192Met)
c.9567C>G (p.Ile3189Met)
c.9453C>G (p.Ile3151Met)
c.9288C>G (p.Ile3096Met)
c.7437C>G (p.Ile2479Met)
c.5127C>G (p.Ile1709Met)
n.9826C>G
18g.23950075C>TCA503522815LAMA3c.4731C>T (p.Ile1577=)
c.9558C>T (p.Ile3186=)
c.6153C>T (p.Ile2051=)
c.9390C>T (p.Ile3130=)
c.4563C>T (p.Ile1521=)
c.79C>T
n.4136C>T
c.9585C>T (p.Ile3195=)
c.9576C>T (p.Ile3192=)
c.9567C>T (p.Ile3189=)
c.9453C>T (p.Ile3151=)
c.9288C>T (p.Ile3096=)
c.7437C>T (p.Ile2479=)
c.5127C>T (p.Ile1709=)
n.9826C>T
 gnomAD v4
18g.23950076C>ACA402051974LAMA3c.4732C>A (p.Arg1578Ser)
c.9559C>A (p.Arg3187Ser)
c.6154C>A (p.Arg2052Ser)
c.9391C>A (p.Arg3131Ser)
c.4564C>A (p.Arg1522Ser)
c.80C>A
n.4137C>A
c.9586C>A (p.Arg3196Ser)
c.9577C>A (p.Arg3193Ser)
c.9568C>A (p.Arg3190Ser)
c.9454C>A (p.Arg3152Ser)
c.9289C>A (p.Arg3097Ser)
c.7438C>A (p.Arg2480Ser)
c.5128C>A (p.Arg1710Ser)
n.9827C>A
18g.23950076C=CA2290344093LAMA3c.4732C= (p.Arg1578=)
c.9559C= (p.Arg3187=)
c.6154C= (p.Arg2052=)
c.9391C= (p.Arg3131=)
c.4564C= (p.Arg1522=)
c.80C=
n.4137C=
c.9586C= (p.Arg3196=)
c.9577C= (p.Arg3193=)
c.9568C= (p.Arg3190=)
c.9454C= (p.Arg3152=)
c.9289C= (p.Arg3097=)
c.7438C= (p.Arg2480=)
c.5128C= (p.Arg1710=)
n.9827C=
18g.23950076C>GCA402051973LAMA3c.4732C>G (p.Arg1578Gly)
c.9559C>G (p.Arg3187Gly)
c.6154C>G (p.Arg2052Gly)
c.9391C>G (p.Arg3131Gly)
c.4564C>G (p.Arg1522Gly)
c.80C>G
n.4137C>G
c.9586C>G (p.Arg3196Gly)
c.9577C>G (p.Arg3193Gly)
c.9568C>G (p.Arg3190Gly)
c.9454C>G (p.Arg3152Gly)
c.9289C>G (p.Arg3097Gly)
c.7438C>G (p.Arg2480Gly)
c.5128C>G (p.Arg1710Gly)
n.9827C>G
18g.23950076C>TCA8917227LAMA3c.4732C>T (p.Arg1578Cys)
c.9559C>T (p.Arg3187Cys)
c.6154C>T (p.Arg2052Cys)
c.9391C>T (p.Arg3131Cys)
c.4564C>T (p.Arg1522Cys)
c.80C>T
n.4137C>T
c.9586C>T (p.Arg3196Cys)
c.9577C>T (p.Arg3193Cys)
c.9568C>T (p.Arg3190Cys)
c.9454C>T (p.Arg3152Cys)
c.9289C>T (p.Arg3097Cys)
c.7438C>T (p.Arg2480Cys)
c.5128C>T (p.Arg1710Cys)
n.9827C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23950077G>ACA8917228LAMA3c.4733G>A (p.Arg1578His)
c.9560G>A (p.Arg3187His)
c.6155G>A (p.Arg2052His)
c.9392G>A (p.Arg3131His)
c.4565G>A (p.Arg1522His)
c.81G>A
n.4138G>A
c.9587G>A (p.Arg3196His)
c.9578G>A (p.Arg3193His)
c.9569G>A (p.Arg3190His)
c.9455G>A (p.Arg3152His)
c.9290G>A (p.Arg3097His)
c.7439G>A (p.Arg2480His)
c.5129G>A (p.Arg1710His)
n.9828G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23950077G>CCA402051975LAMA3c.4733G>C (p.Arg1578Pro)
c.9560G>C (p.Arg3187Pro)
c.6155G>C (p.Arg2052Pro)
c.9392G>C (p.Arg3131Pro)
c.4565G>C (p.Arg1522Pro)
c.81G>C
n.4138G>C
c.9587G>C (p.Arg3196Pro)
c.9578G>C (p.Arg3193Pro)
c.9569G>C (p.Arg3190Pro)
c.9455G>C (p.Arg3152Pro)
c.9290G>C (p.Arg3097Pro)
c.7439G>C (p.Arg2480Pro)
c.5129G>C (p.Arg1710Pro)
n.9828G>C
18g.23950077G=CA2290344117LAMA3c.4733G= (p.Arg1578=)
c.9560G= (p.Arg3187=)
c.6155G= (p.Arg2052=)
c.9392G= (p.Arg3131=)
c.4565G= (p.Arg1522=)
c.81G=
n.4138G=
c.9587G= (p.Arg3196=)
c.9578G= (p.Arg3193=)
c.9569G= (p.Arg3190=)
c.9455G= (p.Arg3152=)
c.9290G= (p.Arg3097=)
c.7439G= (p.Arg2480=)
c.5129G= (p.Arg1710=)
n.9828G=
18g.23950077G>TCA402051976LAMA3c.4733G>T (p.Arg1578Leu)
c.9560G>T (p.Arg3187Leu)
c.6155G>T (p.Arg2052Leu)
c.9392G>T (p.Arg3131Leu)
c.4565G>T (p.Arg1522Leu)
c.81G>T
n.4138G>T
c.9587G>T (p.Arg3196Leu)
c.9578G>T (p.Arg3193Leu)
c.9569G>T (p.Arg3190Leu)
c.9455G>T (p.Arg3152Leu)
c.9290G>T (p.Arg3097Leu)
c.7439G>T (p.Arg2480Leu)
c.5129G>T (p.Arg1710Leu)
n.9828G>T
18g.23950078C>ACA503522817LAMA3c.4734C>A (p.Arg1578=)
c.9561C>A (p.Arg3187=)
c.6156C>A (p.Arg2052=)
c.9393C>A (p.Arg3131=)
c.4566C>A (p.Arg1522=)
c.82C>A
n.4139C>A
c.9588C>A (p.Arg3196=)
c.9579C>A (p.Arg3193=)
c.9570C>A (p.Arg3190=)
c.9456C>A (p.Arg3152=)
c.9291C>A (p.Arg3097=)
c.7440C>A (p.Arg2480=)
c.5130C>A (p.Arg1710=)
n.9829C>A
 ClinVar gnomAD v4
18g.23950078C=CA2290344121LAMA3c.4734C= (p.Arg1578=)
c.9561C= (p.Arg3187=)
c.6156C= (p.Arg2052=)
c.9393C= (p.Arg3131=)
c.4566C= (p.Arg1522=)
c.82C=
n.4139C=
c.9588C= (p.Arg3196=)
c.9579C= (p.Arg3193=)
c.9570C= (p.Arg3190=)
c.9456C= (p.Arg3152=)
c.9291C= (p.Arg3097=)
c.7440C= (p.Arg2480=)
c.5130C= (p.Arg1710=)
n.9829C=
18g.23950078C>GCA503522816LAMA3c.4734C>G (p.Arg1578=)
c.9561C>G (p.Arg3187=)
c.6156C>G (p.Arg2052=)
c.9393C>G (p.Arg3131=)
c.4566C>G (p.Arg1522=)
c.82C>G
n.4139C>G
c.9588C>G (p.Arg3196=)
c.9579C>G (p.Arg3193=)
c.9570C>G (p.Arg3190=)
c.9456C>G (p.Arg3152=)
c.9291C>G (p.Arg3097=)
c.7440C>G (p.Arg2480=)
c.5130C>G (p.Arg1710=)
n.9829C>G
18g.23950078C>TCA8917229LAMA3c.4734C>T (p.Arg1578=)
c.9561C>T (p.Arg3187=)
c.6156C>T (p.Arg2052=)
c.9393C>T (p.Arg3131=)
c.4566C>T (p.Arg1522=)
c.82C>T
n.4139C>T
c.9588C>T (p.Arg3196=)
c.9579C>T (p.Arg3193=)
c.9570C>T (p.Arg3190=)
c.9456C>T (p.Arg3152=)
c.9291C>T (p.Arg3097=)
c.7440C>T (p.Arg2480=)
c.5130C>T (p.Arg1710=)
n.9829C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23950079C>ACA402051977LAMA3c.4735C>A (p.Pro1579Thr)
c.9562C>A (p.Pro3188Thr)
c.6157C>A (p.Pro2053Thr)
c.9394C>A (p.Pro3132Thr)
c.4567C>A (p.Pro1523Thr)
c.83C>A
n.4140C>A
c.9589C>A (p.Pro3197Thr)
c.9580C>A (p.Pro3194Thr)
c.9571C>A (p.Pro3191Thr)
c.9457C>A (p.Pro3153Thr)
c.9292C>A (p.Pro3098Thr)
c.7441C>A (p.Pro2481Thr)
c.5131C>A (p.Pro1711Thr)
n.9830C>A
 dbSNP gnomAD v3 gnomAD v4
18g.23950079C=CA2290344125LAMA3c.4735C= (p.Pro1579=)
c.9562C= (p.Pro3188=)
c.6157C= (p.Pro2053=)
c.9394C= (p.Pro3132=)
c.4567C= (p.Pro1523=)
c.83C=
n.4140C=
c.9589C= (p.Pro3197=)
c.9580C= (p.Pro3194=)
c.9571C= (p.Pro3191=)
c.9457C= (p.Pro3153=)
c.9292C= (p.Pro3098=)
c.7441C= (p.Pro2481=)
c.5131C= (p.Pro1711=)
n.9830C=
18g.23950079C>GCA402051978LAMA3c.4735C>G (p.Pro1579Ala)
c.9562C>G (p.Pro3188Ala)
c.6157C>G (p.Pro2053Ala)
c.9394C>G (p.Pro3132Ala)
c.4567C>G (p.Pro1523Ala)
c.83C>G
n.4140C>G
c.9589C>G (p.Pro3197Ala)
c.9580C>G (p.Pro3194Ala)
c.9571C>G (p.Pro3191Ala)
c.9457C>G (p.Pro3153Ala)
c.9292C>G (p.Pro3098Ala)
c.7441C>G (p.Pro2481Ala)
c.5131C>G (p.Pro1711Ala)
n.9830C>G
18g.23950079C>TCA402051979LAMA3c.4735C>T (p.Pro1579Ser)
c.9562C>T (p.Pro3188Ser)
c.6157C>T (p.Pro2053Ser)
c.9394C>T (p.Pro3132Ser)
c.4567C>T (p.Pro1523Ser)
c.83C>T
n.4140C>T
c.9589C>T (p.Pro3197Ser)
c.9580C>T (p.Pro3194Ser)
c.9571C>T (p.Pro3191Ser)
c.9457C>T (p.Pro3153Ser)
c.9292C>T (p.Pro3098Ser)
c.7441C>T (p.Pro2481Ser)
c.5131C>T (p.Pro1711Ser)
n.9830C>T
18g.23950080C>ACA402051980LAMA3c.4736C>A (p.Pro1579Gln)
c.9563C>A (p.Pro3188Gln)
c.6158C>A (p.Pro2053Gln)
c.9395C>A (p.Pro3132Gln)
c.4568C>A (p.Pro1523Gln)
c.84C>A
n.4141C>A
c.9590C>A (p.Pro3197Gln)
c.9581C>A (p.Pro3194Gln)
c.9572C>A (p.Pro3191Gln)
c.9458C>A (p.Pro3153Gln)
c.9293C>A (p.Pro3098Gln)
c.7442C>A (p.Pro2481Gln)
c.5132C>A (p.Pro1711Gln)
n.9831C>A
18g.23950080C>GCA402051981LAMA3c.4736C>G (p.Pro1579Arg)
c.9563C>G (p.Pro3188Arg)
c.6158C>G (p.Pro2053Arg)
c.9395C>G (p.Pro3132Arg)
c.4568C>G (p.Pro1523Arg)
c.84C>G
n.4141C>G
c.9590C>G (p.Pro3197Arg)
c.9581C>G (p.Pro3194Arg)
c.9572C>G (p.Pro3191Arg)
c.9458C>G (p.Pro3153Arg)
c.9293C>G (p.Pro3098Arg)
c.7442C>G (p.Pro2481Arg)
c.5132C>G (p.Pro1711Arg)
n.9831C>G
18g.23950080C>TCA402051982LAMA3c.4736C>T (p.Pro1579Leu)
c.9563C>T (p.Pro3188Leu)
c.6158C>T (p.Pro2053Leu)
c.9395C>T (p.Pro3132Leu)
c.4568C>T (p.Pro1523Leu)
c.84C>T
n.4141C>T
c.9590C>T (p.Pro3197Leu)
c.9581C>T (p.Pro3194Leu)
c.9572C>T (p.Pro3191Leu)
c.9458C>T (p.Pro3153Leu)
c.9293C>T (p.Pro3098Leu)
c.7442C>T (p.Pro2481Leu)
c.5132C>T (p.Pro1711Leu)
n.9831C>T
18g.23950081A=CA2290344126LAMA3c.4737A= (p.Pro1579=)
c.9564A= (p.Pro3188=)
c.6159A= (p.Pro2053=)
c.9396A= (p.Pro3132=)
c.4569A= (p.Pro1523=)
c.85A=
n.4142A=
c.9591A= (p.Pro3197=)
c.9582A= (p.Pro3194=)
c.9573A= (p.Pro3191=)
c.9459A= (p.Pro3153=)
c.9294A= (p.Pro3098=)
c.7443A= (p.Pro2481=)
c.5133A= (p.Pro1711=)
n.9832A=
18g.23950081A>CCA503522818LAMA3c.4737A>C (p.Pro1579=)
c.9564A>C (p.Pro3188=)
c.6159A>C (p.Pro2053=)
c.9396A>C (p.Pro3132=)
c.4569A>C (p.Pro1523=)
c.85A>C
n.4142A>C
c.9591A>C (p.Pro3197=)
c.9582A>C (p.Pro3194=)
c.9573A>C (p.Pro3191=)
c.9459A>C (p.Pro3153=)
c.9294A>C (p.Pro3098=)
c.7443A>C (p.Pro2481=)
c.5133A>C (p.Pro1711=)
n.9832A>C
18g.23950081A>GCA503522819LAMA3c.4737A>G (p.Pro1579=)
c.9564A>G (p.Pro3188=)
c.6159A>G (p.Pro2053=)
c.9396A>G (p.Pro3132=)
c.4569A>G (p.Pro1523=)
c.85A>G
n.4142A>G
c.9591A>G (p.Pro3197=)
c.9582A>G (p.Pro3194=)
c.9573A>G (p.Pro3191=)
c.9459A>G (p.Pro3153=)
c.9294A>G (p.Pro3098=)
c.7443A>G (p.Pro2481=)
c.5133A>G (p.Pro1711=)
n.9832A>G
 dbSNP gnomAD v4
18g.23950081A>TCA503522820LAMA3c.4737A>T (p.Pro1579=)
c.9564A>T (p.Pro3188=)
c.6159A>T (p.Pro2053=)
c.9396A>T (p.Pro3132=)
c.4569A>T (p.Pro1523=)
c.85A>T
n.4142A>T
c.9591A>T (p.Pro3197=)
c.9582A>T (p.Pro3194=)
c.9573A>T (p.Pro3191=)
c.9459A>T (p.Pro3153=)
c.9294A>T (p.Pro3098=)
c.7443A>T (p.Pro2481=)
c.5133A>T (p.Pro1711=)
n.9832A>T
18g.23950082A>CCA503522821LAMA3c.4738A>C (p.Arg1580=)
c.9565A>C (p.Arg3189=)
c.6160A>C (p.Arg2054=)
c.9397A>C (p.Arg3133=)
c.4570A>C (p.Arg1524=)
c.86A>C
n.4143A>C
c.9592A>C (p.Arg3198=)
c.9583A>C (p.Arg3195=)
c.9574A>C (p.Arg3192=)
c.9460A>C (p.Arg3154=)
c.9295A>C (p.Arg3099=)
c.7444A>C (p.Arg2482=)
c.5134A>C (p.Arg1712=)
n.9833A>C
18g.23950082A>GCA402051983LAMA3c.4738A>G (p.Arg1580Gly)
c.9565A>G (p.Arg3189Gly)
c.6160A>G (p.Arg2054Gly)
c.9397A>G (p.Arg3133Gly)
c.4570A>G (p.Arg1524Gly)
c.86A>G
n.4143A>G
c.9592A>G (p.Arg3198Gly)
c.9583A>G (p.Arg3195Gly)
c.9574A>G (p.Arg3192Gly)
c.9460A>G (p.Arg3154Gly)
c.9295A>G (p.Arg3099Gly)
c.7444A>G (p.Arg2482Gly)
c.5134A>G (p.Arg1712Gly)
n.9833A>G
18g.23950082A>TCA402051984LAMA3c.4738A>T (p.Arg1580Ter)
c.9565A>T (p.Arg3189Ter)
c.6160A>T (p.Arg2054Ter)
c.9397A>T (p.Arg3133Ter)
c.4570A>T (p.Arg1524Ter)
c.86A>T
n.4143A>T
c.9592A>T (p.Arg3198Ter)
c.9583A>T (p.Arg3195Ter)
c.9574A>T (p.Arg3192Ter)
c.9460A>T (p.Arg3154Ter)
c.9295A>T (p.Arg3099Ter)
c.7444A>T (p.Arg2482Ter)
c.5134A>T (p.Arg1712Ter)
n.9833A>T
18g.23950083G>ACA402051987LAMA3c.4739G>A (p.Arg1580Lys)
c.9566G>A (p.Arg3189Lys)
c.6161G>A (p.Arg2054Lys)
c.9398G>A (p.Arg3133Lys)
c.4571G>A (p.Arg1524Lys)
c.87G>A
n.4144G>A
c.9593G>A (p.Arg3198Lys)
c.9584G>A (p.Arg3195Lys)
c.9575G>A (p.Arg3192Lys)
c.9461G>A (p.Arg3154Lys)
c.9296G>A (p.Arg3099Lys)
c.7445G>A (p.Arg2482Lys)
c.5135G>A (p.Arg1712Lys)
n.9834G>A
18g.23950083G>CCA402051986LAMA3c.4739G>C (p.Arg1580Thr)
c.9566G>C (p.Arg3189Thr)
c.6161G>C (p.Arg2054Thr)
c.9398G>C (p.Arg3133Thr)
c.4571G>C (p.Arg1524Thr)
c.87G>C
n.4144G>C
c.9593G>C (p.Arg3198Thr)
c.9584G>C (p.Arg3195Thr)
c.9575G>C (p.Arg3192Thr)
c.9461G>C (p.Arg3154Thr)
c.9296G>C (p.Arg3099Thr)
c.7445G>C (p.Arg2482Thr)
c.5135G>C (p.Arg1712Thr)
n.9834G>C
 gnomAD v4
18g.23950083G>TCA402051985LAMA3c.4739G>T (p.Arg1580Ile)
c.9566G>T (p.Arg3189Ile)
c.6161G>T (p.Arg2054Ile)
c.9398G>T (p.Arg3133Ile)
c.4571G>T (p.Arg1524Ile)
c.87G>T
n.4144G>T
c.9593G>T (p.Arg3198Ile)
c.9584G>T (p.Arg3195Ile)
c.9575G>T (p.Arg3192Ile)
c.9461G>T (p.Arg3154Ile)
c.9296G>T (p.Arg3099Ile)
c.7445G>T (p.Arg2482Ile)
c.5135G>T (p.Arg1712Ile)
n.9834G>T
18g.23950084A>CCA402051988LAMA3c.4740A>C (p.Arg1580Ser)
c.9567A>C (p.Arg3189Ser)
c.6162A>C (p.Arg2054Ser)
c.9399A>C (p.Arg3133Ser)
c.4572A>C (p.Arg1524Ser)
c.88A>C
n.4145A>C
c.9594A>C (p.Arg3198Ser)
c.9585A>C (p.Arg3195Ser)
c.9576A>C (p.Arg3192Ser)
c.9462A>C (p.Arg3154Ser)
c.9297A>C (p.Arg3099Ser)
c.7446A>C (p.Arg2482Ser)
c.5136A>C (p.Arg1712Ser)
n.9835A>C
18g.23950084A>GCA503522822LAMA3c.4740A>G (p.Arg1580=)
c.9567A>G (p.Arg3189=)
c.6162A>G (p.Arg2054=)
c.9399A>G (p.Arg3133=)
c.4572A>G (p.Arg1524=)
c.88A>G
n.4145A>G
c.9594A>G (p.Arg3198=)
c.9585A>G (p.Arg3195=)
c.9576A>G (p.Arg3192=)
c.9462A>G (p.Arg3154=)
c.9297A>G (p.Arg3099=)
c.7446A>G (p.Arg2482=)
c.5136A>G (p.Arg1712=)
n.9835A>G
 ClinVar
18g.23950084A>TCA402051989LAMA3c.4740A>T (p.Arg1580Ser)
c.9567A>T (p.Arg3189Ser)
c.6162A>T (p.Arg2054Ser)
c.9399A>T (p.Arg3133Ser)
c.4572A>T (p.Arg1524Ser)
c.88A>T
n.4145A>T
c.9594A>T (p.Arg3198Ser)
c.9585A>T (p.Arg3195Ser)
c.9576A>T (p.Arg3192Ser)
c.9462A>T (p.Arg3154Ser)
c.9297A>T (p.Arg3099Ser)
c.7446A>T (p.Arg2482Ser)
c.5136A>T (p.Arg1712Ser)
n.9835A>T
18g.23950085A>CCA402051990LAMA3c.4741A>C (p.Ser1581Arg)
c.9568A>C (p.Ser3190Arg)
c.6163A>C (p.Ser2055Arg)
c.9400A>C (p.Ser3134Arg)
c.4573A>C (p.Ser1525Arg)
c.89A>C
n.4146A>C
c.9595A>C (p.Ser3199Arg)
c.9586A>C (p.Ser3196Arg)
c.9577A>C (p.Ser3193Arg)
c.9463A>C (p.Ser3155Arg)
c.9298A>C (p.Ser3100Arg)
c.7447A>C (p.Ser2483Arg)
c.5137A>C (p.Ser1713Arg)
n.9836A>C
18g.23950085A>GCA402051991LAMA3c.4741A>G (p.Ser1581Gly)
c.9568A>G (p.Ser3190Gly)
c.6163A>G (p.Ser2055Gly)
c.9400A>G (p.Ser3134Gly)
c.4573A>G (p.Ser1525Gly)
c.89A>G
n.4146A>G
c.9595A>G (p.Ser3199Gly)
c.9586A>G (p.Ser3196Gly)
c.9577A>G (p.Ser3193Gly)
c.9463A>G (p.Ser3155Gly)
c.9298A>G (p.Ser3100Gly)
c.7447A>G (p.Ser2483Gly)
c.5137A>G (p.Ser1713Gly)
n.9836A>G
18g.23950085A>TCA402051992LAMA3c.4741A>T (p.Ser1581Cys)
c.9568A>T (p.Ser3190Cys)
c.6163A>T (p.Ser2055Cys)
c.9400A>T (p.Ser3134Cys)
c.4573A>T (p.Ser1525Cys)
c.89A>T
n.4146A>T
c.9595A>T (p.Ser3199Cys)
c.9586A>T (p.Ser3196Cys)
c.9577A>T (p.Ser3193Cys)
c.9463A>T (p.Ser3155Cys)
c.9298A>T (p.Ser3100Cys)
c.7447A>T (p.Ser2483Cys)
c.5137A>T (p.Ser1713Cys)
n.9836A>T
18g.23950086G>ACA402051993LAMA3c.4742G>A (p.Ser1581Asn)
c.9569G>A (p.Ser3190Asn)
c.6164G>A (p.Ser2055Asn)
c.9401G>A (p.Ser3134Asn)
c.4574G>A (p.Ser1525Asn)
c.90G>A
n.4147G>A
c.9596G>A (p.Ser3199Asn)
c.9587G>A (p.Ser3196Asn)
c.9578G>A (p.Ser3193Asn)
c.9464G>A (p.Ser3155Asn)
c.9299G>A (p.Ser3100Asn)
c.7448G>A (p.Ser2483Asn)
c.5138G>A (p.Ser1713Asn)
n.9837G>A
 gnomAD v4
18g.23950086G>CCA402051994LAMA3c.4742G>C (p.Ser1581Thr)
c.9569G>C (p.Ser3190Thr)
c.6164G>C (p.Ser2055Thr)
c.9401G>C (p.Ser3134Thr)
c.4574G>C (p.Ser1525Thr)
c.90G>C
n.4147G>C
c.9596G>C (p.Ser3199Thr)
c.9587G>C (p.Ser3196Thr)
c.9578G>C (p.Ser3193Thr)
c.9464G>C (p.Ser3155Thr)
c.9299G>C (p.Ser3100Thr)
c.7448G>C (p.Ser2483Thr)
c.5138G>C (p.Ser1713Thr)
n.9837G>C
18g.23950086G>TCA402051995LAMA3c.4742G>T (p.Ser1581Ile)
c.9569G>T (p.Ser3190Ile)
c.6164G>T (p.Ser2055Ile)
c.9401G>T (p.Ser3134Ile)
c.4574G>T (p.Ser1525Ile)
c.90G>T
n.4147G>T
c.9596G>T (p.Ser3199Ile)
c.9587G>T (p.Ser3196Ile)
c.9578G>T (p.Ser3193Ile)
c.9464G>T (p.Ser3155Ile)
c.9299G>T (p.Ser3100Ile)
c.7448G>T (p.Ser2483Ile)
c.5138G>T (p.Ser1713Ile)
n.9837G>T
18g.23950087T>ACA402051996LAMA3c.4743T>A (p.Ser1581Arg)
c.9570T>A (p.Ser3190Arg)
c.6165T>A (p.Ser2055Arg)
c.9402T>A (p.Ser3134Arg)
c.4575T>A (p.Ser1525Arg)
c.91T>A
n.4148T>A
c.9597T>A (p.Ser3199Arg)
c.9588T>A (p.Ser3196Arg)
c.9579T>A (p.Ser3193Arg)
c.9465T>A (p.Ser3155Arg)
c.9300T>A (p.Ser3100Arg)
c.7449T>A (p.Ser2483Arg)
c.5139T>A (p.Ser1713Arg)
n.9838T>A
18g.23950087T>CCA503522823LAMA3c.4743T>C (p.Ser1581=)
c.9570T>C (p.Ser3190=)
c.6165T>C (p.Ser2055=)
c.9402T>C (p.Ser3134=)
c.4575T>C (p.Ser1525=)
c.91T>C
n.4148T>C
c.9597T>C (p.Ser3199=)
c.9588T>C (p.Ser3196=)
c.9579T>C (p.Ser3193=)
c.9465T>C (p.Ser3155=)
c.9300T>C (p.Ser3100=)
c.7449T>C (p.Ser2483=)
c.5139T>C (p.Ser1713=)
n.9838T>C
18g.23950087T>GCA402051997LAMA3c.4743T>G (p.Ser1581Arg)
c.9570T>G (p.Ser3190Arg)
c.6165T>G (p.Ser2055Arg)
c.9402T>G (p.Ser3134Arg)
c.4575T>G (p.Ser1525Arg)
c.91T>G
n.4148T>G
c.9597T>G (p.Ser3199Arg)
c.9588T>G (p.Ser3196Arg)
c.9579T>G (p.Ser3193Arg)
c.9465T>G (p.Ser3155Arg)
c.9300T>G (p.Ser3100Arg)
c.7449T>G (p.Ser2483Arg)
c.5139T>G (p.Ser1713Arg)
n.9838T>G
18g.23950088C>ACA402051998LAMA3c.4744C>A (p.Leu1582Ile)
c.9571C>A (p.Leu3191Ile)
c.6166C>A (p.Leu2056Ile)
c.9403C>A (p.Leu3135Ile)
c.4576C>A (p.Leu1526Ile)
c.92C>A
n.4149C>A
c.9598C>A (p.Leu3200Ile)
c.9589C>A (p.Leu3197Ile)
c.9580C>A (p.Leu3194Ile)
c.9466C>A (p.Leu3156Ile)
c.9301C>A (p.Leu3101Ile)
c.7450C>A (p.Leu2484Ile)
c.5140C>A (p.Leu1714Ile)
n.9839C>A
18g.23950088C>GCA402051999LAMA3c.4744C>G (p.Leu1582Val)
c.9571C>G (p.Leu3191Val)
c.6166C>G (p.Leu2056Val)
c.9403C>G (p.Leu3135Val)
c.4576C>G (p.Leu1526Val)
c.92C>G
n.4149C>G
c.9598C>G (p.Leu3200Val)
c.9589C>G (p.Leu3197Val)
c.9580C>G (p.Leu3194Val)
c.9466C>G (p.Leu3156Val)
c.9301C>G (p.Leu3101Val)
c.7450C>G (p.Leu2484Val)
c.5140C>G (p.Leu1714Val)
n.9839C>G
18g.23950088C>TCA402052000LAMA3c.4744C>T (p.Leu1582Phe)
c.9571C>T (p.Leu3191Phe)
c.6166C>T (p.Leu2056Phe)
c.9403C>T (p.Leu3135Phe)
c.4576C>T (p.Leu1526Phe)
c.92C>T
n.4149C>T
c.9598C>T (p.Leu3200Phe)
c.9589C>T (p.Leu3197Phe)
c.9580C>T (p.Leu3194Phe)
c.9466C>T (p.Leu3156Phe)
c.9301C>T (p.Leu3101Phe)
c.7450C>T (p.Leu2484Phe)
c.5140C>T (p.Leu1714Phe)
n.9839C>T
18g.23950089T>ACA402052002LAMA3c.4745T>A (p.Leu1582His)
c.9572T>A (p.Leu3191His)
c.6167T>A (p.Leu2056His)
c.9404T>A (p.Leu3135His)
c.4577T>A (p.Leu1526His)
c.93T>A
n.4150T>A
c.9599T>A (p.Leu3200His)
c.9590T>A (p.Leu3197His)
c.9581T>A (p.Leu3194His)
c.9467T>A (p.Leu3156His)
c.9302T>A (p.Leu3101His)
c.7451T>A (p.Leu2484His)
c.5141T>A (p.Leu1714His)
n.9840T>A
18g.23950089T>CCA402052003LAMA3c.4745T>C (p.Leu1582Pro)
c.9572T>C (p.Leu3191Pro)
c.6167T>C (p.Leu2056Pro)
c.9404T>C (p.Leu3135Pro)
c.4577T>C (p.Leu1526Pro)
c.93T>C
n.4150T>C
c.9599T>C (p.Leu3200Pro)
c.9590T>C (p.Leu3197Pro)
c.9581T>C (p.Leu3194Pro)
c.9467T>C (p.Leu3156Pro)
c.9302T>C (p.Leu3101Pro)
c.7451T>C (p.Leu2484Pro)
c.5141T>C (p.Leu1714Pro)
n.9840T>C
18g.23950089T>GCA402052001LAMA3c.4745T>G (p.Leu1582Arg)
c.9572T>G (p.Leu3191Arg)
c.6167T>G (p.Leu2056Arg)
c.9404T>G (p.Leu3135Arg)
c.4577T>G (p.Leu1526Arg)
c.93T>G
n.4150T>G
c.9599T>G (p.Leu3200Arg)
c.9590T>G (p.Leu3197Arg)
c.9581T>G (p.Leu3194Arg)
c.9467T>G (p.Leu3156Arg)
c.9302T>G (p.Leu3101Arg)
c.7451T>G (p.Leu2484Arg)
c.5141T>G (p.Leu1714Arg)
n.9840T>G
18g.23950090C>ACA503522824LAMA3c.4746C>A (p.Leu1582=)
c.9573C>A (p.Leu3191=)
c.6168C>A (p.Leu2056=)
c.9405C>A (p.Leu3135=)
c.4578C>A (p.Leu1526=)
c.94C>A
n.4151C>A
c.9600C>A (p.Leu3200=)
c.9591C>A (p.Leu3197=)
c.9582C>A (p.Leu3194=)
c.9468C>A (p.Leu3156=)
c.9303C>A (p.Leu3101=)
c.7452C>A (p.Leu2484=)
c.5142C>A (p.Leu1714=)
n.9841C>A
18g.23950090C>GCA503522825LAMA3c.4746C>G (p.Leu1582=)
c.9573C>G (p.Leu3191=)
c.6168C>G (p.Leu2056=)
c.9405C>G (p.Leu3135=)
c.4578C>G (p.Leu1526=)
c.94C>G
n.4151C>G
c.9600C>G (p.Leu3200=)
c.9591C>G (p.Leu3197=)
c.9582C>G (p.Leu3194=)
c.9468C>G (p.Leu3156=)
c.9303C>G (p.Leu3101=)
c.7452C>G (p.Leu2484=)
c.5142C>G (p.Leu1714=)
n.9841C>G
18g.23950090C>TCA503522826LAMA3c.4746C>T (p.Leu1582=)
c.9573C>T (p.Leu3191=)
c.6168C>T (p.Leu2056=)
c.9405C>T (p.Leu3135=)
c.4578C>T (p.Leu1526=)
c.94C>T
n.4151C>T
c.9600C>T (p.Leu3200=)
c.9591C>T (p.Leu3197=)
c.9582C>T (p.Leu3194=)
c.9468C>T (p.Leu3156=)
c.9303C>T (p.Leu3101=)
c.7452C>T (p.Leu2484=)
c.5142C>T (p.Leu1714=)
n.9841C>T
18g.23950091A=CA2290344130LAMA3c.4747A= (p.Thr1583=)
c.9574A= (p.Thr3192=)
c.6169A= (p.Thr2057=)
c.9406A= (p.Thr3136=)
c.4579A= (p.Thr1527=)
c.95A=
n.4152A=
c.9601A= (p.Thr3201=)
c.9592A= (p.Thr3198=)
c.9583A= (p.Thr3195=)
c.9469A= (p.Thr3157=)
c.9304A= (p.Thr3102=)
c.7453A= (p.Thr2485=)
c.5143A= (p.Thr1715=)
n.9842A=
18g.23950091A>CCA402052005LAMA3c.4747A>C (p.Thr1583Pro)
c.9574A>C (p.Thr3192Pro)
c.6169A>C (p.Thr2057Pro)
c.9406A>C (p.Thr3136Pro)
c.4579A>C (p.Thr1527Pro)
c.95A>C
n.4152A>C
c.9601A>C (p.Thr3201Pro)
c.9592A>C (p.Thr3198Pro)
c.9583A>C (p.Thr3195Pro)
c.9469A>C (p.Thr3157Pro)
c.9304A>C (p.Thr3102Pro)
c.7453A>C (p.Thr2485Pro)
c.5143A>C (p.Thr1715Pro)
n.9842A>C
18g.23950091A>GCA402052004LAMA3c.4747A>G (p.Thr1583Ala)
c.9574A>G (p.Thr3192Ala)
c.6169A>G (p.Thr2057Ala)
c.9406A>G (p.Thr3136Ala)
c.4579A>G (p.Thr1527Ala)
c.95A>G
n.4152A>G
c.9601A>G (p.Thr3201Ala)
c.9592A>G (p.Thr3198Ala)
c.9583A>G (p.Thr3195Ala)
c.9469A>G (p.Thr3157Ala)
c.9304A>G (p.Thr3102Ala)
c.7453A>G (p.Thr2485Ala)
c.5143A>G (p.Thr1715Ala)
n.9842A>G
18g.23950091A>TCA8917230LAMA3c.4747A>T (p.Thr1583Ser)
c.9574A>T (p.Thr3192Ser)
c.6169A>T (p.Thr2057Ser)
c.9406A>T (p.Thr3136Ser)
c.4579A>T (p.Thr1527Ser)
c.95A>T
n.4152A>T
c.9601A>T (p.Thr3201Ser)
c.9592A>T (p.Thr3198Ser)
c.9583A>T (p.Thr3195Ser)
c.9469A>T (p.Thr3157Ser)
c.9304A>T (p.Thr3102Ser)
c.7453A>T (p.Thr2485Ser)
c.5143A>T (p.Thr1715Ser)
n.9842A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23950091_23950092delinsACCA2290344134LAMA3c.4747_4748delinsAC (p.Thr1583=)
c.9574_9575delinsAC (p.Thr3192=)
c.6169_6170delinsAC (p.Thr2057=)
c.9406_9407delinsAC (p.Thr3136=)
c.4579_4580delinsAC (p.Thr1527=)
c.95_96delinsAC
n.4152_4153delinsAC
c.9601_9602delinsAC (p.Thr3201=)
c.9592_9593delinsAC (p.Thr3198=)
c.9583_9584delinsAC (p.Thr3195=)
c.9469_9470delinsAC (p.Thr3157=)
c.9304_9305delinsAC (p.Thr3102=)
c.7453_7454delinsAC (p.Thr2485=)
c.5143_5144delinsAC (p.Thr1715=)
n.9842_9843delinsAC
18g.23950092delCA16041943LAMA3c.4748del (p.Thr1583MetfsTer4)
c.9575del (p.Thr3192MetfsTer4)
c.6170del (p.Thr2057MetfsTer4)
c.9407del (p.Thr3136MetfsTer4)
c.4580del (p.Thr1527MetfsTer4)
c.96del
n.4153del
c.9602del (p.Thr3201MetfsTer4)
c.9593del (p.Thr3198MetfsTer4)
c.9584del (p.Thr3195MetfsTer4)
c.9470del (p.Thr3157MetfsTer4)
c.9305del (p.Thr3102MetfsTer4)
c.7454del (p.Thr2485MetfsTer4)
c.5144del (p.Thr1715MetfsTer4)
n.9843del
 ClinVar dbSNP gnomAD v4
18g.23950092C>ACA402052006LAMA3c.4748C>A (p.Thr1583Asn)
c.9575C>A (p.Thr3192Asn)
c.6170C>A (p.Thr2057Asn)
c.9407C>A (p.Thr3136Asn)
c.4580C>A (p.Thr1527Asn)
c.96C>A
n.4153C>A
c.9602C>A (p.Thr3201Asn)
c.9593C>A (p.Thr3198Asn)
c.9584C>A (p.Thr3195Asn)
c.9470C>A (p.Thr3157Asn)
c.9305C>A (p.Thr3102Asn)
c.7454C>A (p.Thr2485Asn)
c.5144C>A (p.Thr1715Asn)
n.9843C>A
 gnomAD v4
18g.23950092C>GCA402052007LAMA3c.4748C>G (p.Thr1583Ser)
c.9575C>G (p.Thr3192Ser)
c.6170C>G (p.Thr2057Ser)
c.9407C>G (p.Thr3136Ser)
c.4580C>G (p.Thr1527Ser)
c.96C>G
n.4153C>G
c.9602C>G (p.Thr3201Ser)
c.9593C>G (p.Thr3198Ser)
c.9584C>G (p.Thr3195Ser)
c.9470C>G (p.Thr3157Ser)
c.9305C>G (p.Thr3102Ser)
c.7454C>G (p.Thr2485Ser)
c.5144C>G (p.Thr1715Ser)
n.9843C>G
18g.23950092C>TCA402052008LAMA3c.4748C>T (p.Thr1583Ile)
c.9575C>T (p.Thr3192Ile)
c.6170C>T (p.Thr2057Ile)
c.9407C>T (p.Thr3136Ile)
c.4580C>T (p.Thr1527Ile)
c.96C>T
n.4153C>T
c.9602C>T (p.Thr3201Ile)
c.9593C>T (p.Thr3198Ile)
c.9584C>T (p.Thr3195Ile)
c.9470C>T (p.Thr3157Ile)
c.9305C>T (p.Thr3102Ile)
c.7454C>T (p.Thr2485Ile)
c.5144C>T (p.Thr1715Ile)
n.9843C>T
18g.23950093T>ACA503522828LAMA3c.4749T>A (p.Thr1583=)
c.9576T>A (p.Thr3192=)
c.6171T>A (p.Thr2057=)
c.9408T>A (p.Thr3136=)
c.4581T>A (p.Thr1527=)
c.97T>A
n.4154T>A
c.9603T>A (p.Thr3201=)
c.9594T>A (p.Thr3198=)
c.9585T>A (p.Thr3195=)
c.9471T>A (p.Thr3157=)
c.9306T>A (p.Thr3102=)
c.7455T>A (p.Thr2485=)
c.5145T>A (p.Thr1715=)
n.9844T>A
 gnomAD v4
18g.23950093T>CCA8917231LAMA3c.4749T>C (p.Thr1583=)
c.9576T>C (p.Thr3192=)
c.6171T>C (p.Thr2057=)
c.9408T>C (p.Thr3136=)
c.4581T>C (p.Thr1527=)
c.97T>C
n.4154T>C
c.9603T>C (p.Thr3201=)
c.9594T>C (p.Thr3198=)
c.9585T>C (p.Thr3195=)
c.9471T>C (p.Thr3157=)
c.9306T>C (p.Thr3102=)
c.7455T>C (p.Thr2485=)
c.5145T>C (p.Thr1715=)
n.9844T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23950093T>GCA503522827LAMA3c.4749T>G (p.Thr1583=)
c.9576T>G (p.Thr3192=)
c.6171T>G (p.Thr2057=)
c.9408T>G (p.Thr3136=)
c.4581T>G (p.Thr1527=)
c.97T>G
n.4154T>G
c.9603T>G (p.Thr3201=)
c.9594T>G (p.Thr3198=)
c.9585T>G (p.Thr3195=)
c.9471T>G (p.Thr3157=)
c.9306T>G (p.Thr3102=)
c.7455T>G (p.Thr2485=)
c.5145T>G (p.Thr1715=)
n.9844T>G
18g.23950093T=CA2290344141LAMA3c.4749T= (p.Thr1583=)
c.9576T= (p.Thr3192=)
c.6171T= (p.Thr2057=)
c.9408T= (p.Thr3136=)
c.4581T= (p.Thr1527=)
c.97T=
n.4154T=
c.9603T= (p.Thr3201=)
c.9594T= (p.Thr3198=)
c.9585T= (p.Thr3195=)
c.9471T= (p.Thr3157=)
c.9306T= (p.Thr3102=)
c.7455T= (p.Thr2485=)
c.5145T= (p.Thr1715=)
n.9844T=
18g.23950094G>ACA402052009LAMA3c.4750G>A (p.Gly1584Arg)
c.9577G>A (p.Gly3193Arg)
c.6172G>A (p.Gly2058Arg)
c.9409G>A (p.Gly3137Arg)
c.4582G>A (p.Gly1528Arg)
c.98G>A
n.4155G>A
c.9604G>A (p.Gly3202Arg)
c.9595G>A (p.Gly3199Arg)
c.9586G>A (p.Gly3196Arg)
c.9472G>A (p.Gly3158Arg)
c.9307G>A (p.Gly3103Arg)
c.7456G>A (p.Gly2486Arg)
c.5146G>A (p.Gly1716Arg)
n.9845G>A
18g.23950094G>CCA402052010LAMA3c.4750G>C (p.Gly1584Arg)
c.9577G>C (p.Gly3193Arg)
c.6172G>C (p.Gly2058Arg)
c.9409G>C (p.Gly3137Arg)
c.4582G>C (p.Gly1528Arg)
c.98G>C
n.4155G>C
c.9604G>C (p.Gly3202Arg)
c.9595G>C (p.Gly3199Arg)
c.9586G>C (p.Gly3196Arg)
c.9472G>C (p.Gly3158Arg)
c.9307G>C (p.Gly3103Arg)
c.7456G>C (p.Gly2486Arg)
c.5146G>C (p.Gly1716Arg)
n.9845G>C
18g.23950094G>TCA402052011LAMA3c.4750G>T (p.Gly1584Trp)
c.9577G>T (p.Gly3193Trp)
c.6172G>T (p.Gly2058Trp)
c.9409G>T (p.Gly3137Trp)
c.4582G>T (p.Gly1528Trp)
c.98G>T
n.4155G>T
c.9604G>T (p.Gly3202Trp)
c.9595G>T (p.Gly3199Trp)
c.9586G>T (p.Gly3196Trp)
c.9472G>T (p.Gly3158Trp)
c.9307G>T (p.Gly3103Trp)
c.7456G>T (p.Gly2486Trp)
c.5146G>T (p.Gly1716Trp)
n.9845G>T
 COSMIC COSMIC
18g.23950095G>ACA402052012LAMA3c.4751G>A (p.Gly1584Glu)
c.9578G>A (p.Gly3193Glu)
c.6173G>A (p.Gly2058Glu)
c.9410G>A (p.Gly3137Glu)
c.4583G>A (p.Gly1528Glu)
c.99G>A
n.4156G>A
c.9605G>A (p.Gly3202Glu)
c.9596G>A (p.Gly3199Glu)
c.9587G>A (p.Gly3196Glu)
c.9473G>A (p.Gly3158Glu)
c.9308G>A (p.Gly3103Glu)
c.7457G>A (p.Gly2486Glu)
c.5147G>A (p.Gly1716Glu)
n.9846G>A
18g.23950095G>CCA402052013LAMA3c.4751G>C (p.Gly1584Ala)
c.9578G>C (p.Gly3193Ala)
c.6173G>C (p.Gly2058Ala)
c.9410G>C (p.Gly3137Ala)
c.4583G>C (p.Gly1528Ala)
c.99G>C
n.4156G>C
c.9605G>C (p.Gly3202Ala)
c.9596G>C (p.Gly3199Ala)
c.9587G>C (p.Gly3196Ala)
c.9473G>C (p.Gly3158Ala)
c.9308G>C (p.Gly3103Ala)
c.7457G>C (p.Gly2486Ala)
c.5147G>C (p.Gly1716Ala)
n.9846G>C
18g.23950095G>TCA402052014LAMA3c.4751G>T (p.Gly1584Val)
c.9578G>T (p.Gly3193Val)
c.6173G>T (p.Gly2058Val)
c.9410G>T (p.Gly3137Val)
c.4583G>T (p.Gly1528Val)
c.99G>T
n.4156G>T
c.9605G>T (p.Gly3202Val)
c.9596G>T (p.Gly3199Val)
c.9587G>T (p.Gly3196Val)
c.9473G>T (p.Gly3158Val)
c.9308G>T (p.Gly3103Val)
c.7457G>T (p.Gly2486Val)
c.5147G>T (p.Gly1716Val)
n.9846G>T
 gnomAD v4
18g.23950096G>ACA503522829LAMA3c.4752G>A (p.Gly1584=)
c.9579G>A (p.Gly3193=)
c.6174G>A (p.Gly2058=)
c.9411G>A (p.Gly3137=)
c.4584G>A (p.Gly1528=)
c.100G>A
n.4157G>A
c.9606G>A (p.Gly3202=)
c.9597G>A (p.Gly3199=)
c.9588G>A (p.Gly3196=)
c.9474G>A (p.Gly3158=)
c.9309G>A (p.Gly3103=)
c.7458G>A (p.Gly2486=)
c.5148G>A (p.Gly1716=)
n.9847G>A
 gnomAD v4
18g.23950096G>CCA503522830LAMA3c.4752G>C (p.Gly1584=)
c.9579G>C (p.Gly3193=)
c.6174G>C (p.Gly2058=)
c.9411G>C (p.Gly3137=)
c.4584G>C (p.Gly1528=)
c.100G>C
n.4157G>C
c.9606G>C (p.Gly3202=)
c.9597G>C (p.Gly3199=)
c.9588G>C (p.Gly3196=)
c.9474G>C (p.Gly3158=)
c.9309G>C (p.Gly3103=)
c.7458G>C (p.Gly2486=)
c.5148G>C (p.Gly1716=)
n.9847G>C
18g.23950096G>TCA503522831LAMA3c.4752G>T (p.Gly1584=)
c.9579G>T (p.Gly3193=)
c.6174G>T (p.Gly2058=)
c.9411G>T (p.Gly3137=)
c.4584G>T (p.Gly1528=)
c.100G>T
n.4157G>T
c.9606G>T (p.Gly3202=)
c.9597G>T (p.Gly3199=)
c.9588G>T (p.Gly3196=)
c.9474G>T (p.Gly3158=)
c.9309G>T (p.Gly3103=)
c.7458G>T (p.Gly2486=)
c.5148G>T (p.Gly1716=)
n.9847G>T
18g.23950097A=CA2290344144LAMA3c.4753A= (p.Ile1585=)
c.9580A= (p.Ile3194=)
c.6175A= (p.Ile2059=)
c.9412A= (p.Ile3138=)
c.4585A= (p.Ile1529=)
c.101A=
n.4158A=
c.9607A= (p.Ile3203=)
c.9598A= (p.Ile3200=)
c.9589A= (p.Ile3197=)
c.9475A= (p.Ile3159=)
c.9310A= (p.Ile3104=)
c.7459A= (p.Ile2487=)
c.5149A= (p.Ile1717=)
n.9848A=
18g.23950097A>CCA402052017LAMA3c.4753A>C (p.Ile1585Leu)
c.9580A>C (p.Ile3194Leu)
c.6175A>C (p.Ile2059Leu)
c.9412A>C (p.Ile3138Leu)
c.4585A>C (p.Ile1529Leu)
c.101A>C
n.4158A>C
c.9607A>C (p.Ile3203Leu)
c.9598A>C (p.Ile3200Leu)
c.9589A>C (p.Ile3197Leu)
c.9475A>C (p.Ile3159Leu)
c.9310A>C (p.Ile3104Leu)
c.7459A>C (p.Ile2487Leu)
c.5149A>C (p.Ile1717Leu)
n.9848A>C
18g.23950097A>GCA402052015LAMA3c.4753A>G (p.Ile1585Val)
c.9580A>G (p.Ile3194Val)
c.6175A>G (p.Ile2059Val)
c.9412A>G (p.Ile3138Val)
c.4585A>G (p.Ile1529Val)
c.101A>G
n.4158A>G
c.9607A>G (p.Ile3203Val)
c.9598A>G (p.Ile3200Val)
c.9589A>G (p.Ile3197Val)
c.9475A>G (p.Ile3159Val)
c.9310A>G (p.Ile3104Val)
c.7459A>G (p.Ile2487Val)
c.5149A>G (p.Ile1717Val)
n.9848A>G
 dbSNP
18g.23950097A>TCA402052016LAMA3c.4753A>T (p.Ile1585Phe)
c.9580A>T (p.Ile3194Phe)
c.6175A>T (p.Ile2059Phe)
c.9412A>T (p.Ile3138Phe)
c.4585A>T (p.Ile1529Phe)
c.101A>T
n.4158A>T
c.9607A>T (p.Ile3203Phe)
c.9598A>T (p.Ile3200Phe)
c.9589A>T (p.Ile3197Phe)
c.9475A>T (p.Ile3159Phe)
c.9310A>T (p.Ile3104Phe)
c.7459A>T (p.Ile2487Phe)
c.5149A>T (p.Ile1717Phe)
n.9848A>T
18g.23950098T>ACA402052018LAMA3c.4754T>A (p.Ile1585Asn)
c.9581T>A (p.Ile3194Asn)
c.6176T>A (p.Ile2059Asn)
c.9413T>A (p.Ile3138Asn)
c.4586T>A (p.Ile1529Asn)
c.102T>A
n.4159T>A
c.9608T>A (p.Ile3203Asn)
c.9599T>A (p.Ile3200Asn)
c.9590T>A (p.Ile3197Asn)
c.9476T>A (p.Ile3159Asn)
c.9311T>A (p.Ile3104Asn)
c.7460T>A (p.Ile2487Asn)
c.5150T>A (p.Ile1717Asn)
n.9849T>A
18g.23950098T>CCA402052019LAMA3c.4754T>C (p.Ile1585Thr)
c.9581T>C (p.Ile3194Thr)
c.6176T>C (p.Ile2059Thr)
c.9413T>C (p.Ile3138Thr)
c.4586T>C (p.Ile1529Thr)
c.102T>C
n.4159T>C
c.9608T>C (p.Ile3203Thr)
c.9599T>C (p.Ile3200Thr)
c.9590T>C (p.Ile3197Thr)
c.9476T>C (p.Ile3159Thr)
c.9311T>C (p.Ile3104Thr)
c.7460T>C (p.Ile2487Thr)
c.5150T>C (p.Ile1717Thr)
n.9849T>C
18g.23950098T>GCA402052020LAMA3c.4754T>G (p.Ile1585Ser)
c.9581T>G (p.Ile3194Ser)
c.6176T>G (p.Ile2059Ser)
c.9413T>G (p.Ile3138Ser)
c.4586T>G (p.Ile1529Ser)
c.102T>G
n.4159T>G
c.9608T>G (p.Ile3203Ser)
c.9599T>G (p.Ile3200Ser)
c.9590T>G (p.Ile3197Ser)
c.9476T>G (p.Ile3159Ser)
c.9311T>G (p.Ile3104Ser)
c.7460T>G (p.Ile2487Ser)
c.5150T>G (p.Ile1717Ser)
n.9849T>G
18g.23950099C>ACA503522832LAMA3c.4755C>A (p.Ile1585=)
c.9582C>A (p.Ile3194=)
c.6177C>A (p.Ile2059=)
c.9414C>A (p.Ile3138=)
c.4587C>A (p.Ile1529=)
c.103C>A
n.4160C>A
c.9609C>A (p.Ile3203=)
c.9600C>A (p.Ile3200=)
c.9591C>A (p.Ile3197=)
c.9477C>A (p.Ile3159=)
c.9312C>A (p.Ile3104=)
c.7461C>A (p.Ile2487=)
c.5151C>A (p.Ile1717=)
n.9850C>A
18g.23950099C>GCA402052021LAMA3c.4755C>G (p.Ile1585Met)
c.9582C>G (p.Ile3194Met)
c.6177C>G (p.Ile2059Met)
c.9414C>G (p.Ile3138Met)
c.4587C>G (p.Ile1529Met)
c.103C>G
n.4160C>G
c.9609C>G (p.Ile3203Met)
c.9600C>G (p.Ile3200Met)
c.9591C>G (p.Ile3197Met)
c.9477C>G (p.Ile3159Met)
c.9312C>G (p.Ile3104Met)
c.7461C>G (p.Ile2487Met)
c.5151C>G (p.Ile1717Met)
n.9850C>G
18g.23950099C>TCA503522833LAMA3c.4755C>T (p.Ile1585=)
c.9582C>T (p.Ile3194=)
c.6177C>T (p.Ile2059=)
c.9414C>T (p.Ile3138=)
c.4587C>T (p.Ile1529=)
c.103C>T
n.4160C>T
c.9609C>T (p.Ile3203=)
c.9600C>T (p.Ile3200=)
c.9591C>T (p.Ile3197=)
c.9477C>T (p.Ile3159=)
c.9312C>T (p.Ile3104=)
c.7461C>T (p.Ile2487=)
c.5151C>T (p.Ile1717=)
n.9850C>T
 COSMIC COSMIC
18g.23950100C>ACA402052022LAMA3c.4756C>A (p.Leu1586Ile)
c.9583C>A (p.Leu3195Ile)
c.6178C>A (p.Leu2060Ile)
c.9415C>A (p.Leu3139Ile)
c.4588C>A (p.Leu1530Ile)
c.104C>A
n.4161C>A
c.9610C>A (p.Leu3204Ile)
c.9601C>A (p.Leu3201Ile)
c.9592C>A (p.Leu3198Ile)
c.9478C>A (p.Leu3160Ile)
c.9313C>A (p.Leu3105Ile)
c.7462C>A (p.Leu2488Ile)
c.5152C>A (p.Leu1718Ile)
n.9851C>A
18g.23950100C>GCA402052023LAMA3c.4756C>G (p.Leu1586Val)
c.9583C>G (p.Leu3195Val)
c.6178C>G (p.Leu2060Val)
c.9415C>G (p.Leu3139Val)
c.4588C>G (p.Leu1530Val)
c.104C>G
n.4161C>G
c.9610C>G (p.Leu3204Val)
c.9601C>G (p.Leu3201Val)
c.9592C>G (p.Leu3198Val)
c.9478C>G (p.Leu3160Val)
c.9313C>G (p.Leu3105Val)
c.7462C>G (p.Leu2488Val)
c.5152C>G (p.Leu1718Val)
n.9851C>G
18g.23950100C>TCA503522834LAMA3c.4756C>T (p.Leu1586=)
c.9583C>T (p.Leu3195=)
c.6178C>T (p.Leu2060=)
c.9415C>T (p.Leu3139=)
c.4588C>T (p.Leu1530=)
c.104C>T
n.4161C>T
c.9610C>T (p.Leu3204=)
c.9601C>T (p.Leu3201=)
c.9592C>T (p.Leu3198=)
c.9478C>T (p.Leu3160=)
c.9313C>T (p.Leu3105=)
c.7462C>T (p.Leu2488=)
c.5152C>T (p.Leu1718=)
n.9851C>T
 ClinVar gnomAD v4
18g.23950101T>ACA402052024LAMA3c.4757T>A (p.Leu1586Gln)
c.9584T>A (p.Leu3195Gln)
c.6179T>A (p.Leu2060Gln)
c.9416T>A (p.Leu3139Gln)
c.4589T>A (p.Leu1530Gln)
c.105T>A
n.4162T>A
c.9611T>A (p.Leu3204Gln)
c.9602T>A (p.Leu3201Gln)
c.9593T>A (p.Leu3198Gln)
c.9479T>A (p.Leu3160Gln)
c.9314T>A (p.Leu3105Gln)
c.7463T>A (p.Leu2488Gln)
c.5153T>A (p.Leu1718Gln)
n.9852T>A
18g.23950101T>CCA402052025LAMA3c.4757T>C (p.Leu1586Pro)
c.9584T>C (p.Leu3195Pro)
c.6179T>C (p.Leu2060Pro)
c.9416T>C (p.Leu3139Pro)
c.4589T>C (p.Leu1530Pro)
c.105T>C
n.4162T>C
c.9611T>C (p.Leu3204Pro)
c.9602T>C (p.Leu3201Pro)
c.9593T>C (p.Leu3198Pro)
c.9479T>C (p.Leu3160Pro)
c.9314T>C (p.Leu3105Pro)
c.7463T>C (p.Leu2488Pro)
c.5153T>C (p.Leu1718Pro)
n.9852T>C
18g.23950101T>GCA402052026LAMA3c.4757T>G (p.Leu1586Arg)
c.9584T>G (p.Leu3195Arg)
c.6179T>G (p.Leu2060Arg)
c.9416T>G (p.Leu3139Arg)
c.4589T>G (p.Leu1530Arg)
c.105T>G
n.4162T>G
c.9611T>G (p.Leu3204Arg)
c.9602T>G (p.Leu3201Arg)
c.9593T>G (p.Leu3198Arg)
c.9479T>G (p.Leu3160Arg)
c.9314T>G (p.Leu3105Arg)
c.7463T>G (p.Leu2488Arg)
c.5153T>G (p.Leu1718Arg)
n.9852T>G
18g.23950102A>CCA503522835LAMA3c.4758A>C (p.Leu1586=)
c.9585A>C (p.Leu3195=)
c.6180A>C (p.Leu2060=)
c.9417A>C (p.Leu3139=)
c.4590A>C (p.Leu1530=)
c.106A>C
n.4163A>C
c.9612A>C (p.Leu3204=)
c.9603A>C (p.Leu3201=)
c.9594A>C (p.Leu3198=)
c.9480A>C (p.Leu3160=)
c.9315A>C (p.Leu3105=)
c.7464A>C (p.Leu2488=)
c.5154A>C (p.Leu1718=)
n.9853A>C
18g.23950102A>GCA503522836LAMA3c.4758A>G (p.Leu1586=)
c.9585A>G (p.Leu3195=)
c.6180A>G (p.Leu2060=)
c.9417A>G (p.Leu3139=)
c.4590A>G (p.Leu1530=)
c.106A>G
n.4163A>G
c.9612A>G (p.Leu3204=)
c.9603A>G (p.Leu3201=)
c.9594A>G (p.Leu3198=)
c.9480A>G (p.Leu3160=)
c.9315A>G (p.Leu3105=)
c.7464A>G (p.Leu2488=)
c.5154A>G (p.Leu1718=)
n.9853A>G
18g.23950102A>TCA503522837LAMA3c.4758A>T (p.Leu1586=)
c.9585A>T (p.Leu3195=)
c.6180A>T (p.Leu2060=)
c.9417A>T (p.Leu3139=)
c.4590A>T (p.Leu1530=)
c.106A>T
n.4163A>T
c.9612A>T (p.Leu3204=)
c.9603A>T (p.Leu3201=)
c.9594A>T (p.Leu3198=)
c.9480A>T (p.Leu3160=)
c.9315A>T (p.Leu3105=)
c.7464A>T (p.Leu2488=)
c.5154A>T (p.Leu1718=)
n.9853A>T
18g.23950103A>CCA402052027LAMA3c.4759A>C (p.Ile1587Leu)
c.9586A>C (p.Ile3196Leu)
c.6181A>C (p.Ile2061Leu)
c.9418A>C (p.Ile3140Leu)
c.4591A>C (p.Ile1531Leu)
c.107A>C
n.4164A>C
c.9613A>C (p.Ile3205Leu)
c.9604A>C (p.Ile3202Leu)
c.9595A>C (p.Ile3199Leu)
c.9481A>C (p.Ile3161Leu)
c.9316A>C (p.Ile3106Leu)
c.7465A>C (p.Ile2489Leu)
c.5155A>C (p.Ile1719Leu)
n.9854A>C
18g.23950103A>GCA402052028LAMA3c.4759A>G (p.Ile1587Val)
c.9586A>G (p.Ile3196Val)
c.6181A>G (p.Ile2061Val)
c.9418A>G (p.Ile3140Val)
c.4591A>G (p.Ile1531Val)
c.107A>G
n.4164A>G
c.9613A>G (p.Ile3205Val)
c.9604A>G (p.Ile3202Val)
c.9595A>G (p.Ile3199Val)
c.9481A>G (p.Ile3161Val)
c.9316A>G (p.Ile3106Val)
c.7465A>G (p.Ile2489Val)
c.5155A>G (p.Ile1719Val)
n.9854A>G
18g.23950103A>TCA402052029LAMA3c.4759A>T (p.Ile1587Leu)
c.9586A>T (p.Ile3196Leu)
c.6181A>T (p.Ile2061Leu)
c.9418A>T (p.Ile3140Leu)
c.4591A>T (p.Ile1531Leu)
c.107A>T
n.4164A>T
c.9613A>T (p.Ile3205Leu)
c.9604A>T (p.Ile3202Leu)
c.9595A>T (p.Ile3199Leu)
c.9481A>T (p.Ile3161Leu)
c.9316A>T (p.Ile3106Leu)
c.7465A>T (p.Ile2489Leu)
c.5155A>T (p.Ile1719Leu)
n.9854A>T
18g.23950104T>ACA402052031LAMA3c.4760T>A (p.Ile1587Lys)
c.9587T>A (p.Ile3196Lys)
c.6182T>A (p.Ile2061Lys)
c.9419T>A (p.Ile3140Lys)
c.4592T>A (p.Ile1531Lys)
c.108T>A
n.4165T>A
c.9614T>A (p.Ile3205Lys)
c.9605T>A (p.Ile3202Lys)
c.9596T>A (p.Ile3199Lys)
c.9482T>A (p.Ile3161Lys)
c.9317T>A (p.Ile3106Lys)
c.7466T>A (p.Ile2489Lys)
c.5156T>A (p.Ile1719Lys)
n.9855T>A
18g.23950104T>CCA402052032LAMA3c.4760T>C (p.Ile1587Thr)
c.9587T>C (p.Ile3196Thr)
c.6182T>C (p.Ile2061Thr)
c.9419T>C (p.Ile3140Thr)
c.4592T>C (p.Ile1531Thr)
c.108T>C
n.4165T>C
c.9614T>C (p.Ile3205Thr)
c.9605T>C (p.Ile3202Thr)
c.9596T>C (p.Ile3199Thr)
c.9482T>C (p.Ile3161Thr)
c.9317T>C (p.Ile3106Thr)
c.7466T>C (p.Ile2489Thr)
c.5156T>C (p.Ile1719Thr)
n.9855T>C
18g.23950104T>GCA402052030LAMA3c.4760T>G (p.Ile1587Arg)
c.9587T>G (p.Ile3196Arg)
c.6182T>G (p.Ile2061Arg)
c.9419T>G (p.Ile3140Arg)
c.4592T>G (p.Ile1531Arg)
c.108T>G
n.4165T>G
c.9614T>G (p.Ile3205Arg)
c.9605T>G (p.Ile3202Arg)
c.9596T>G (p.Ile3199Arg)
c.9482T>G (p.Ile3161Arg)
c.9317T>G (p.Ile3106Arg)
c.7466T>G (p.Ile2489Arg)
c.5156T>G (p.Ile1719Arg)
n.9855T>G
18g.23950105A>CCA503522838LAMA3c.4761A>C (p.Ile1587=)
c.9588A>C (p.Ile3196=)
c.6183A>C (p.Ile2061=)
c.9420A>C (p.Ile3140=)
c.4593A>C (p.Ile1531=)
c.109A>C
n.4166A>C
c.9615A>C (p.Ile3205=)
c.9606A>C (p.Ile3202=)
c.9597A>C (p.Ile3199=)
c.9483A>C (p.Ile3161=)
c.9318A>C (p.Ile3106=)
c.7467A>C (p.Ile2489=)
c.5157A>C (p.Ile1719=)
n.9856A>C
18g.23950105A>GCA402052033LAMA3c.4761A>G (p.Ile1587Met)
c.9588A>G (p.Ile3196Met)
c.6183A>G (p.Ile2061Met)
c.9420A>G (p.Ile3140Met)
c.4593A>G (p.Ile1531Met)
c.109A>G
n.4166A>G
c.9615A>G (p.Ile3205Met)
c.9606A>G (p.Ile3202Met)
c.9597A>G (p.Ile3199Met)
c.9483A>G (p.Ile3161Met)
c.9318A>G (p.Ile3106Met)
c.7467A>G (p.Ile2489Met)
c.5157A>G (p.Ile1719Met)
n.9856A>G
18g.23950105A>TCA503522839LAMA3c.4761A>T (p.Ile1587=)
c.9588A>T (p.Ile3196=)
c.6183A>T (p.Ile2061=)
c.9420A>T (p.Ile3140=)
c.4593A>T (p.Ile1531=)
c.109A>T
n.4166A>T
c.9615A>T (p.Ile3205=)
c.9606A>T (p.Ile3202=)
c.9597A>T (p.Ile3199=)
c.9483A>T (p.Ile3161=)
c.9318A>T (p.Ile3106=)
c.7467A>T (p.Ile2489=)
c.5157A>T (p.Ile1719=)
n.9856A>T
18g.23950106C>ACA402052034LAMA3c.4762C>A (p.His1588Asn)
c.9589C>A (p.His3197Asn)
c.6184C>A (p.His2062Asn)
c.9421C>A (p.His3141Asn)
c.4594C>A (p.His1532Asn)
c.110C>A
n.4167C>A
c.9616C>A (p.His3206Asn)
c.9607C>A (p.His3203Asn)
c.9598C>A (p.His3200Asn)
c.9484C>A (p.His3162Asn)
c.9319C>A (p.His3107Asn)
c.7468C>A (p.His2490Asn)
c.5158C>A (p.His1720Asn)
n.9857C>A
18g.23950106C=CA2290344150LAMA3c.4762C= (p.His1588=)
c.9589C= (p.His3197=)
c.6184C= (p.His2062=)
c.9421C= (p.His3141=)
c.4594C= (p.His1532=)
c.110C=
n.4167C=
c.9616C= (p.His3206=)
c.9607C= (p.His3203=)
c.9598C= (p.His3200=)
c.9484C= (p.His3162=)
c.9319C= (p.His3107=)
c.7468C= (p.His2490=)
c.5158C= (p.His1720=)
n.9857C=
18g.23950106C>GCA402052035LAMA3c.4762C>G (p.His1588Asp)
c.9589C>G (p.His3197Asp)
c.6184C>G (p.His2062Asp)
c.9421C>G (p.His3141Asp)
c.4594C>G (p.His1532Asp)
c.110C>G
n.4167C>G
c.9616C>G (p.His3206Asp)
c.9607C>G (p.His3203Asp)
c.9598C>G (p.His3200Asp)
c.9484C>G (p.His3162Asp)
c.9319C>G (p.His3107Asp)
c.7468C>G (p.His2490Asp)
c.5158C>G (p.His1720Asp)
n.9857C>G
18g.23950106C>TCA8917232LAMA3c.4762C>T (p.His1588Tyr)
c.9589C>T (p.His3197Tyr)
c.6184C>T (p.His2062Tyr)
c.9421C>T (p.His3141Tyr)
c.4594C>T (p.His1532Tyr)
c.110C>T
n.4167C>T
c.9616C>T (p.His3206Tyr)
c.9607C>T (p.His3203Tyr)
c.9598C>T (p.His3200Tyr)
c.9484C>T (p.His3162Tyr)
c.9319C>T (p.His3107Tyr)
c.7468C>T (p.His2490Tyr)
c.5158C>T (p.His1720Tyr)
n.9857C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23950107A=CA2290344154LAMA3c.4763A= (p.His1588=)
c.9590A= (p.His3197=)
c.6185A= (p.His2062=)
c.9422A= (p.His3141=)
c.4595A= (p.His1532=)
c.111A=
n.4168A=
c.9617A= (p.His3206=)
c.9608A= (p.His3203=)
c.9599A= (p.His3200=)
c.9485A= (p.His3162=)
c.9320A= (p.His3107=)
c.7469A= (p.His2490=)
c.5159A= (p.His1720=)
n.9858A=
18g.23950107A>CCA402052036LAMA3c.4763A>C (p.His1588Pro)
c.9590A>C (p.His3197Pro)
c.6185A>C (p.His2062Pro)
c.9422A>C (p.His3141Pro)
c.4595A>C (p.His1532Pro)
c.111A>C
n.4168A>C
c.9617A>C (p.His3206Pro)
c.9608A>C (p.His3203Pro)
c.9599A>C (p.His3200Pro)
c.9485A>C (p.His3162Pro)
c.9320A>C (p.His3107Pro)
c.7469A>C (p.His2490Pro)
c.5159A>C (p.His1720Pro)
n.9858A>C
18g.23950107A>GCA8917233LAMA3c.4763A>G (p.His1588Arg)
c.9590A>G (p.His3197Arg)
c.6185A>G (p.His2062Arg)
c.9422A>G (p.His3141Arg)
c.4595A>G (p.His1532Arg)
c.111A>G
n.4168A>G
c.9617A>G (p.His3206Arg)
c.9608A>G (p.His3203Arg)
c.9599A>G (p.His3200Arg)
c.9485A>G (p.His3162Arg)
c.9320A>G (p.His3107Arg)
c.7469A>G (p.His2490Arg)
c.5159A>G (p.His1720Arg)
n.9858A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23950107A>TCA402052037LAMA3c.4763A>T (p.His1588Leu)
c.9590A>T (p.His3197Leu)
c.6185A>T (p.His2062Leu)
c.9422A>T (p.His3141Leu)
c.4595A>T (p.His1532Leu)
c.111A>T
n.4168A>T
c.9617A>T (p.His3206Leu)
c.9608A>T (p.His3203Leu)
c.9599A>T (p.His3200Leu)
c.9485A>T (p.His3162Leu)
c.9320A>T (p.His3107Leu)
c.7469A>T (p.His2490Leu)
c.5159A>T (p.His1720Leu)
n.9858A>T
18g.23950108C>ACA402052038LAMA3c.4764C>A (p.His1588Gln)
c.9591C>A (p.His3197Gln)
c.6186C>A (p.His2062Gln)
c.9423C>A (p.His3141Gln)
c.4596C>A (p.His1532Gln)
c.112C>A
n.4169C>A
c.9618C>A (p.His3206Gln)
c.9609C>A (p.His3203Gln)
c.9600C>A (p.His3200Gln)
c.9486C>A (p.His3162Gln)
c.9321C>A (p.His3107Gln)
c.7470C>A (p.His2490Gln)
c.5160C>A (p.His1720Gln)
n.9859C>A
18g.23950108C=CA2290344158LAMA3c.4764C= (p.His1588=)
c.9591C= (p.His3197=)
c.6186C= (p.His2062=)
c.9423C= (p.His3141=)
c.4596C= (p.His1532=)
c.112C=
n.4169C=
c.9618C= (p.His3206=)
c.9609C= (p.His3203=)
c.9600C= (p.His3200=)
c.9486C= (p.His3162=)
c.9321C= (p.His3107=)
c.7470C= (p.His2490=)
c.5160C= (p.His1720=)
n.9859C=
18g.23950108C>GCA402052039LAMA3c.4764C>G (p.His1588Gln)
c.9591C>G (p.His3197Gln)
c.6186C>G (p.His2062Gln)
c.9423C>G (p.His3141Gln)
c.4596C>G (p.His1532Gln)
c.112C>G
n.4169C>G
c.9618C>G (p.His3206Gln)
c.9609C>G (p.His3203Gln)
c.9600C>G (p.His3200Gln)
c.9486C>G (p.His3162Gln)
c.9321C>G (p.His3107Gln)
c.7470C>G (p.His2490Gln)
c.5160C>G (p.His1720Gln)
n.9859C>G
 dbSNP
18g.23950108C>TCA503522840LAMA3c.4764C>T (p.His1588=)
c.9591C>T (p.His3197=)
c.6186C>T (p.His2062=)
c.9423C>T (p.His3141=)
c.4596C>T (p.His1532=)
c.112C>T
n.4169C>T
c.9618C>T (p.His3206=)
c.9609C>T (p.His3203=)
c.9600C>T (p.His3200=)
c.9486C>T (p.His3162=)
c.9321C>T (p.His3107=)
c.7470C>T (p.His2490=)
c.5160C>T (p.His1720=)
n.9859C>T
 gnomAD v4
18g.23950109A=CA2290344162LAMA3c.4765A= (p.Ile1589=)
c.9592A= (p.Ile3198=)
c.6187A= (p.Ile2063=)
c.9424A= (p.Ile3142=)
c.4597A= (p.Ile1533=)
c.113A=
n.4170A=
c.9619A= (p.Ile3207=)
c.9610A= (p.Ile3204=)
c.9601A= (p.Ile3201=)
c.9487A= (p.Ile3163=)
c.9322A= (p.Ile3108=)
c.7471A= (p.Ile2491=)
c.5161A= (p.Ile1721=)
n.9860A=
18g.23950109A>CCA402052040LAMA3c.4765A>C (p.Ile1589Leu)
c.9592A>C (p.Ile3198Leu)
c.6187A>C (p.Ile2063Leu)
c.9424A>C (p.Ile3142Leu)
c.4597A>C (p.Ile1533Leu)
c.113A>C
n.4170A>C
c.9619A>C (p.Ile3207Leu)
c.9610A>C (p.Ile3204Leu)
c.9601A>C (p.Ile3201Leu)
c.9487A>C (p.Ile3163Leu)
c.9322A>C (p.Ile3108Leu)
c.7471A>C (p.Ile2491Leu)
c.5161A>C (p.Ile1721Leu)
n.9860A>C
18g.23950109A>GCA8917234LAMA3c.4765A>G (p.Ile1589Val)
c.9592A>G (p.Ile3198Val)
c.6187A>G (p.Ile2063Val)
c.9424A>G (p.Ile3142Val)
c.4597A>G (p.Ile1533Val)
c.113A>G
n.4170A>G
c.9619A>G (p.Ile3207Val)
c.9610A>G (p.Ile3204Val)
c.9601A>G (p.Ile3201Val)
c.9487A>G (p.Ile3163Val)
c.9322A>G (p.Ile3108Val)
c.7471A>G (p.Ile2491Val)
c.5161A>G (p.Ile1721Val)
n.9860A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23950109A>TCA402052041LAMA3c.4765A>T (p.Ile1589Phe)
c.9592A>T (p.Ile3198Phe)
c.6187A>T (p.Ile2063Phe)
c.9424A>T (p.Ile3142Phe)
c.4597A>T (p.Ile1533Phe)
c.113A>T
n.4170A>T
c.9619A>T (p.Ile3207Phe)
c.9610A>T (p.Ile3204Phe)
c.9601A>T (p.Ile3201Phe)
c.9487A>T (p.Ile3163Phe)
c.9322A>T (p.Ile3108Phe)
c.7471A>T (p.Ile2491Phe)
c.5161A>T (p.Ile1721Phe)
n.9860A>T

Number of alleles fetched