Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23928586A=CA2290334804LAMA3c.3469-39A= (n.3469-39A=)
c.8296-39A= (n.8296-39A=)
c.4891-39A= (n.4891-39A=)
c.8128-39A= (n.8128-39A=)
c.3074-39A=
c.3301-39A= (n.3301-39A=)
n.2874-39A=
c.8323-39A= (n.8323-39A=)
c.8314-39A= (n.8314-39A=)
c.8305-39A= (n.8305-39A=)
c.8191-39A= (n.8191-39A=)
c.8026-39A= (n.8026-39A=)
c.6175-39A= (n.6175-39A=)
c.3865-39A= (n.3865-39A=)
n.8564-39A=
18g.23928586A>GCA8916891LAMA3c.3469-39A>G (n.3469-39A>G)
c.8296-39A>G (n.8296-39A>G)
c.4891-39A>G (n.4891-39A>G)
c.8128-39A>G (n.8128-39A>G)
c.3074-39A>G
c.3301-39A>G (n.3301-39A>G)
n.2874-39A>G
c.8323-39A>G (n.8323-39A>G)
c.8314-39A>G (n.8314-39A>G)
c.8305-39A>G (n.8305-39A>G)
c.8191-39A>G (n.8191-39A>G)
c.8026-39A>G (n.8026-39A>G)
c.6175-39A>G (n.6175-39A>G)
c.3865-39A>G (n.3865-39A>G)
n.8564-39A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23928586A>TCA8916890LAMA3c.3469-39A>T (n.3469-39A>T)
c.8296-39A>T (n.8296-39A>T)
c.4891-39A>T (n.4891-39A>T)
c.8128-39A>T (n.8128-39A>T)
c.3074-39A>T
c.3301-39A>T (n.3301-39A>T)
n.2874-39A>T
c.8323-39A>T (n.8323-39A>T)
c.8314-39A>T (n.8314-39A>T)
c.8305-39A>T (n.8305-39A>T)
c.8191-39A>T (n.8191-39A>T)
c.8026-39A>T (n.8026-39A>T)
c.6175-39A>T (n.6175-39A>T)
c.3865-39A>T (n.3865-39A>T)
n.8564-39A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23928589A=CA2290334805LAMA3c.3469-36A= (n.3469-36A=)
c.8296-36A= (n.8296-36A=)
c.4891-36A= (n.4891-36A=)
c.8128-36A= (n.8128-36A=)
c.3074-36A=
c.3301-36A= (n.3301-36A=)
n.2874-36A=
c.8323-36A= (n.8323-36A=)
c.8314-36A= (n.8314-36A=)
c.8305-36A= (n.8305-36A=)
c.8191-36A= (n.8191-36A=)
c.8026-36A= (n.8026-36A=)
c.6175-36A= (n.6175-36A=)
c.3865-36A= (n.3865-36A=)
n.8564-36A=
18g.23928589A>GCA2290334806LAMA3c.3469-36A>G (n.3469-36A>G)
c.8296-36A>G (n.8296-36A>G)
c.4891-36A>G (n.4891-36A>G)
c.8128-36A>G (n.8128-36A>G)
c.3074-36A>G
c.3301-36A>G (n.3301-36A>G)
n.2874-36A>G
c.8323-36A>G (n.8323-36A>G)
c.8314-36A>G (n.8314-36A>G)
c.8305-36A>G (n.8305-36A>G)
c.8191-36A>G (n.8191-36A>G)
c.8026-36A>G (n.8026-36A>G)
c.6175-36A>G (n.6175-36A>G)
c.3865-36A>G (n.3865-36A>G)
n.8564-36A>G
 dbSNP
18g.23928590C>GCA2641297632LAMA3c.3469-35C>G (n.3469-35C>G)
c.8296-35C>G (n.8296-35C>G)
c.4891-35C>G (n.4891-35C>G)
c.8128-35C>G (n.8128-35C>G)
c.3074-35C>G
c.3301-35C>G (n.3301-35C>G)
n.2874-35C>G
c.8323-35C>G (n.8323-35C>G)
c.8314-35C>G (n.8314-35C>G)
c.8305-35C>G (n.8305-35C>G)
c.8191-35C>G (n.8191-35C>G)
c.8026-35C>G (n.8026-35C>G)
c.6175-35C>G (n.6175-35C>G)
c.3865-35C>G (n.3865-35C>G)
n.8564-35C>G
 gnomAD v4
18g.23928590C>TCA2576473111LAMA3c.3469-35C>T (n.3469-35C>T)
c.8296-35C>T (n.8296-35C>T)
c.4891-35C>T (n.4891-35C>T)
c.8128-35C>T (n.8128-35C>T)
c.3074-35C>T
c.3301-35C>T (n.3301-35C>T)
n.2874-35C>T
c.8323-35C>T (n.8323-35C>T)
c.8314-35C>T (n.8314-35C>T)
c.8305-35C>T (n.8305-35C>T)
c.8191-35C>T (n.8191-35C>T)
c.8026-35C>T (n.8026-35C>T)
c.6175-35C>T (n.6175-35C>T)
c.3865-35C>T (n.3865-35C>T)
n.8564-35C>T
18g.23928593_23928597delCA2576473112LAMA3c.3469-32_3469-28del (n.3469-32_3469-28del)
c.8296-32_8296-28del (n.8296-32_8296-28del)
c.4891-32_4891-28del (n.4891-32_4891-28del)
c.8128-32_8128-28del (n.8128-32_8128-28del)
c.3074-32_3074-28del
c.3301-32_3301-28del (n.3301-32_3301-28del)
n.2874-32_2874-28del
c.8323-32_8323-28del (n.8323-32_8323-28del)
c.8314-32_8314-28del (n.8314-32_8314-28del)
c.8305-32_8305-28del (n.8305-32_8305-28del)
c.8191-32_8191-28del (n.8191-32_8191-28del)
c.8026-32_8026-28del (n.8026-32_8026-28del)
c.6175-32_6175-28del (n.6175-32_6175-28del)
c.3865-32_3865-28del (n.3865-32_3865-28del)
n.8564-32_8564-28del
18g.23928593T>CCA2576473113LAMA3c.3469-32T>C (n.3469-32T>C)
c.8296-32T>C (n.8296-32T>C)
c.4891-32T>C (n.4891-32T>C)
c.8128-32T>C (n.8128-32T>C)
c.3074-32T>C
c.3301-32T>C (n.3301-32T>C)
n.2874-32T>C
c.8323-32T>C (n.8323-32T>C)
c.8314-32T>C (n.8314-32T>C)
c.8305-32T>C (n.8305-32T>C)
c.8191-32T>C (n.8191-32T>C)
c.8026-32T>C (n.8026-32T>C)
c.6175-32T>C (n.6175-32T>C)
c.3865-32T>C (n.3865-32T>C)
n.8564-32T>C
 gnomAD v4
18g.23928593_23928596delCA2564119112LAMA3c.3469-32_3469-29del (n.3469-32_3469-29del)
c.8296-32_8296-29del (n.8296-32_8296-29del)
c.4891-32_4891-29del (n.4891-32_4891-29del)
c.8128-32_8128-29del (n.8128-32_8128-29del)
c.3074-32_3074-29del
c.3301-32_3301-29del (n.3301-32_3301-29del)
n.2874-32_2874-29del
c.8323-32_8323-29del (n.8323-32_8323-29del)
c.8314-32_8314-29del (n.8314-32_8314-29del)
c.8305-32_8305-29del (n.8305-32_8305-29del)
c.8191-32_8191-29del (n.8191-32_8191-29del)
c.8026-32_8026-29del (n.8026-32_8026-29del)
c.6175-32_6175-29del (n.6175-32_6175-29del)
c.3865-32_3865-29del (n.3865-32_3865-29del)
n.8564-32_8564-29del
18g.23928595C>ACA777736165LAMA3c.3469-30C>A (n.3469-30C>A)
c.8296-30C>A (n.8296-30C>A)
c.4891-30C>A (n.4891-30C>A)
c.8128-30C>A (n.8128-30C>A)
c.3074-30C>A
c.3301-30C>A (n.3301-30C>A)
n.2874-30C>A
c.8323-30C>A (n.8323-30C>A)
c.8314-30C>A (n.8314-30C>A)
c.8305-30C>A (n.8305-30C>A)
c.8191-30C>A (n.8191-30C>A)
c.8026-30C>A (n.8026-30C>A)
c.6175-30C>A (n.6175-30C>A)
c.3865-30C>A (n.3865-30C>A)
n.8564-30C>A
 dbSNP
18g.23928595C=CA2290334807LAMA3c.3469-30C= (n.3469-30C=)
c.8296-30C= (n.8296-30C=)
c.4891-30C= (n.4891-30C=)
c.8128-30C= (n.8128-30C=)
c.3074-30C=
c.3301-30C= (n.3301-30C=)
n.2874-30C=
c.8323-30C= (n.8323-30C=)
c.8314-30C= (n.8314-30C=)
c.8305-30C= (n.8305-30C=)
c.8191-30C= (n.8191-30C=)
c.8026-30C= (n.8026-30C=)
c.6175-30C= (n.6175-30C=)
c.3865-30C= (n.3865-30C=)
n.8564-30C=
18g.23928596C>TCA2641297633LAMA3c.3469-29C>T (n.3469-29C>T)
c.8296-29C>T (n.8296-29C>T)
c.4891-29C>T (n.4891-29C>T)
c.8128-29C>T (n.8128-29C>T)
c.3074-29C>T
c.3301-29C>T (n.3301-29C>T)
n.2874-29C>T
c.8323-29C>T (n.8323-29C>T)
c.8314-29C>T (n.8314-29C>T)
c.8305-29C>T (n.8305-29C>T)
c.8191-29C>T (n.8191-29C>T)
c.8026-29C>T (n.8026-29C>T)
c.6175-29C>T (n.6175-29C>T)
c.3865-29C>T (n.3865-29C>T)
n.8564-29C>T
 gnomAD v4
18g.23928597A=CA2290334808LAMA3c.3469-28A= (n.3469-28A=)
c.8296-28A= (n.8296-28A=)
c.4891-28A= (n.4891-28A=)
c.8128-28A= (n.8128-28A=)
c.3074-28A=
c.3301-28A= (n.3301-28A=)
n.2874-28A=
c.8323-28A= (n.8323-28A=)
c.8314-28A= (n.8314-28A=)
c.8305-28A= (n.8305-28A=)
c.8191-28A= (n.8191-28A=)
c.8026-28A= (n.8026-28A=)
c.6175-28A= (n.6175-28A=)
c.3865-28A= (n.3865-28A=)
n.8564-28A=
18g.23928597A>GCA8916892LAMA3c.3469-28A>G (n.3469-28A>G)
c.8296-28A>G (n.8296-28A>G)
c.4891-28A>G (n.4891-28A>G)
c.8128-28A>G (n.8128-28A>G)
c.3074-28A>G
c.3301-28A>G (n.3301-28A>G)
n.2874-28A>G
c.8323-28A>G (n.8323-28A>G)
c.8314-28A>G (n.8314-28A>G)
c.8305-28A>G (n.8305-28A>G)
c.8191-28A>G (n.8191-28A>G)
c.8026-28A>G (n.8026-28A>G)
c.6175-28A>G (n.6175-28A>G)
c.3865-28A>G (n.3865-28A>G)
n.8564-28A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23928598delCA2517129366LAMA3c.3469-27del (n.3469-27del)
c.8296-27del (n.8296-27del)
c.4891-27del (n.4891-27del)
c.8128-27del (n.8128-27del)
c.3074-27del
c.3301-27del (n.3301-27del)
n.2874-27del
c.8323-27del (n.8323-27del)
c.8314-27del (n.8314-27del)
c.8305-27del (n.8305-27del)
c.8191-27del (n.8191-27del)
c.8026-27del (n.8026-27del)
c.6175-27del (n.6175-27del)
c.3865-27del (n.3865-27del)
n.8564-27del
18g.23928598G>ACA2576473114LAMA3c.3469-27G>A (n.3469-27G>A)
c.8296-27G>A (n.8296-27G>A)
c.4891-27G>A (n.4891-27G>A)
c.8128-27G>A (n.8128-27G>A)
c.3074-27G>A
c.3301-27G>A (n.3301-27G>A)
n.2874-27G>A
c.8323-27G>A (n.8323-27G>A)
c.8314-27G>A (n.8314-27G>A)
c.8305-27G>A (n.8305-27G>A)
c.8191-27G>A (n.8191-27G>A)
c.8026-27G>A (n.8026-27G>A)
c.6175-27G>A (n.6175-27G>A)
c.3865-27G>A (n.3865-27G>A)
n.8564-27G>A
 gnomAD v4
18g.23928598G>CCA2641297634LAMA3c.3469-27G>C (n.3469-27G>C)
c.8296-27G>C (n.8296-27G>C)
c.4891-27G>C (n.4891-27G>C)
c.8128-27G>C (n.8128-27G>C)
c.3074-27G>C
c.3301-27G>C (n.3301-27G>C)
n.2874-27G>C
c.8323-27G>C (n.8323-27G>C)
c.8314-27G>C (n.8314-27G>C)
c.8305-27G>C (n.8305-27G>C)
c.8191-27G>C (n.8191-27G>C)
c.8026-27G>C (n.8026-27G>C)
c.6175-27G>C (n.6175-27G>C)
c.3865-27G>C (n.3865-27G>C)
n.8564-27G>C
 gnomAD v4
18g.23928599T>ACA2641297635LAMA3c.3469-26T>A (n.3469-26T>A)
c.8296-26T>A (n.8296-26T>A)
c.4891-26T>A (n.4891-26T>A)
c.8128-26T>A (n.8128-26T>A)
c.3074-26T>A
c.3301-26T>A (n.3301-26T>A)
n.2874-26T>A
c.8323-26T>A (n.8323-26T>A)
c.8314-26T>A (n.8314-26T>A)
c.8305-26T>A (n.8305-26T>A)
c.8191-26T>A (n.8191-26T>A)
c.8026-26T>A (n.8026-26T>A)
c.6175-26T>A (n.6175-26T>A)
c.3865-26T>A (n.3865-26T>A)
n.8564-26T>A
 gnomAD v4
18g.23928600_23928606delCA2576473115LAMA3c.3469-25_3469-19del (n.3469-25_3469-19del)
c.8296-25_8296-19del (n.8296-25_8296-19del)
c.4891-25_4891-19del (n.4891-25_4891-19del)
c.8128-25_8128-19del (n.8128-25_8128-19del)
c.3074-25_3074-19del
c.3301-25_3301-19del (n.3301-25_3301-19del)
n.2874-25_2874-19del
c.8323-25_8323-19del (n.8323-25_8323-19del)
c.8314-25_8314-19del (n.8314-25_8314-19del)
c.8305-25_8305-19del (n.8305-25_8305-19del)
c.8191-25_8191-19del (n.8191-25_8191-19del)
c.8026-25_8026-19del (n.8026-25_8026-19del)
c.6175-25_6175-19del (n.6175-25_6175-19del)
c.3865-25_3865-19del (n.3865-25_3865-19del)
n.8564-25_8564-19del
 gnomAD v4
18g.23928600A=CA2290334809LAMA3c.3469-25A= (n.3469-25A=)
c.8296-25A= (n.8296-25A=)
c.4891-25A= (n.4891-25A=)
c.8128-25A= (n.8128-25A=)
c.3074-25A=
c.3301-25A= (n.3301-25A=)
n.2874-25A=
c.8323-25A= (n.8323-25A=)
c.8314-25A= (n.8314-25A=)
c.8305-25A= (n.8305-25A=)
c.8191-25A= (n.8191-25A=)
c.8026-25A= (n.8026-25A=)
c.6175-25A= (n.6175-25A=)
c.3865-25A= (n.3865-25A=)
n.8564-25A=
18g.23928600A>GCA8916893LAMA3c.3469-25A>G (n.3469-25A>G)
c.8296-25A>G (n.8296-25A>G)
c.4891-25A>G (n.4891-25A>G)
c.8128-25A>G (n.8128-25A>G)
c.3074-25A>G
c.3301-25A>G (n.3301-25A>G)
n.2874-25A>G
c.8323-25A>G (n.8323-25A>G)
c.8314-25A>G (n.8314-25A>G)
c.8305-25A>G (n.8305-25A>G)
c.8191-25A>G (n.8191-25A>G)
c.8026-25A>G (n.8026-25A>G)
c.6175-25A>G (n.6175-25A>G)
c.3865-25A>G (n.3865-25A>G)
n.8564-25A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23928600A>TCA297122758LAMA3c.3469-25A>T (n.3469-25A>T)
c.8296-25A>T (n.8296-25A>T)
c.4891-25A>T (n.4891-25A>T)
c.8128-25A>T (n.8128-25A>T)
c.3074-25A>T
c.3301-25A>T (n.3301-25A>T)
n.2874-25A>T
c.8323-25A>T (n.8323-25A>T)
c.8314-25A>T (n.8314-25A>T)
c.8305-25A>T (n.8305-25A>T)
c.8191-25A>T (n.8191-25A>T)
c.8026-25A>T (n.8026-25A>T)
c.6175-25A>T (n.6175-25A>T)
c.3865-25A>T (n.3865-25A>T)
n.8564-25A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23928603T>CCA2641297638LAMA3c.3469-22T>C (n.3469-22T>C)
c.8296-22T>C (n.8296-22T>C)
c.4891-22T>C (n.4891-22T>C)
c.8128-22T>C (n.8128-22T>C)
c.3074-22T>C
c.3301-22T>C (n.3301-22T>C)
n.2874-22T>C
c.8323-22T>C (n.8323-22T>C)
c.8314-22T>C (n.8314-22T>C)
c.8305-22T>C (n.8305-22T>C)
c.8191-22T>C (n.8191-22T>C)
c.8026-22T>C (n.8026-22T>C)
c.6175-22T>C (n.6175-22T>C)
c.3865-22T>C (n.3865-22T>C)
n.8564-22T>C
 gnomAD v4
18g.23928604T>GCA2641297640LAMA3c.3469-21T>G (n.3469-21T>G)
c.8296-21T>G (n.8296-21T>G)
c.4891-21T>G (n.4891-21T>G)
c.8128-21T>G (n.8128-21T>G)
c.3074-21T>G
c.3301-21T>G (n.3301-21T>G)
n.2874-21T>G
c.8323-21T>G (n.8323-21T>G)
c.8314-21T>G (n.8314-21T>G)
c.8305-21T>G (n.8305-21T>G)
c.8191-21T>G (n.8191-21T>G)
c.8026-21T>G (n.8026-21T>G)
c.6175-21T>G (n.6175-21T>G)
c.3865-21T>G (n.3865-21T>G)
n.8564-21T>G
 gnomAD v4
18g.23928607T>CCA8916894LAMA3c.3469-18T>C (n.3469-18T>C)
c.8296-18T>C (n.8296-18T>C)
c.4891-18T>C (n.4891-18T>C)
c.8128-18T>C (n.8128-18T>C)
c.3074-18T>C
c.3301-18T>C (n.3301-18T>C)
n.2874-18T>C
c.8323-18T>C (n.8323-18T>C)
c.8314-18T>C (n.8314-18T>C)
c.8305-18T>C (n.8305-18T>C)
c.8191-18T>C (n.8191-18T>C)
c.8026-18T>C (n.8026-18T>C)
c.6175-18T>C (n.6175-18T>C)
c.3865-18T>C (n.3865-18T>C)
n.8564-18T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23928607T=CA2290334810LAMA3c.3469-18T= (n.3469-18T=)
c.8296-18T= (n.8296-18T=)
c.4891-18T= (n.4891-18T=)
c.8128-18T= (n.8128-18T=)
c.3074-18T=
c.3301-18T= (n.3301-18T=)
n.2874-18T=
c.8323-18T= (n.8323-18T=)
c.8314-18T= (n.8314-18T=)
c.8305-18T= (n.8305-18T=)
c.8191-18T= (n.8191-18T=)
c.8026-18T= (n.8026-18T=)
c.6175-18T= (n.6175-18T=)
c.3865-18T= (n.3865-18T=)
n.8564-18T=
18g.23928608C>ACA8916895LAMA3c.3469-17C>A (n.3469-17C>A)
c.8296-17C>A (n.8296-17C>A)
c.4891-17C>A (n.4891-17C>A)
c.8128-17C>A (n.8128-17C>A)
c.3074-17C>A
c.3301-17C>A (n.3301-17C>A)
n.2874-17C>A
c.8323-17C>A (n.8323-17C>A)
c.8314-17C>A (n.8314-17C>A)
c.8305-17C>A (n.8305-17C>A)
c.8191-17C>A (n.8191-17C>A)
c.8026-17C>A (n.8026-17C>A)
c.6175-17C>A (n.6175-17C>A)
c.3865-17C>A (n.3865-17C>A)
n.8564-17C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23928608C=CA2290334811LAMA3c.3469-17C= (n.3469-17C=)
c.8296-17C= (n.8296-17C=)
c.4891-17C= (n.4891-17C=)
c.8128-17C= (n.8128-17C=)
c.3074-17C=
c.3301-17C= (n.3301-17C=)
n.2874-17C=
c.8323-17C= (n.8323-17C=)
c.8314-17C= (n.8314-17C=)
c.8305-17C= (n.8305-17C=)
c.8191-17C= (n.8191-17C=)
c.8026-17C= (n.8026-17C=)
c.6175-17C= (n.6175-17C=)
c.3865-17C= (n.3865-17C=)
n.8564-17C=
18g.23928610A=CA2290334812LAMA3c.3469-15A= (n.3469-15A=)
c.8296-15A= (n.8296-15A=)
c.4891-15A= (n.4891-15A=)
c.8128-15A= (n.8128-15A=)
c.3074-15A=
c.3301-15A= (n.3301-15A=)
n.2874-15A=
c.8323-15A= (n.8323-15A=)
c.8314-15A= (n.8314-15A=)
c.8305-15A= (n.8305-15A=)
c.8191-15A= (n.8191-15A=)
c.8026-15A= (n.8026-15A=)
c.6175-15A= (n.6175-15A=)
c.3865-15A= (n.3865-15A=)
n.8564-15A=
18g.23928610A>GCA8916896LAMA3c.3469-15A>G (n.3469-15A>G)
c.8296-15A>G (n.8296-15A>G)
c.4891-15A>G (n.4891-15A>G)
c.8128-15A>G (n.8128-15A>G)
c.3074-15A>G
c.3301-15A>G (n.3301-15A>G)
n.2874-15A>G
c.8323-15A>G (n.8323-15A>G)
c.8314-15A>G (n.8314-15A>G)
c.8305-15A>G (n.8305-15A>G)
c.8191-15A>G (n.8191-15A>G)
c.8026-15A>G (n.8026-15A>G)
c.6175-15A>G (n.6175-15A>G)
c.3865-15A>G (n.3865-15A>G)
n.8564-15A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928611T>CCA8916897LAMA3c.3469-14T>C (n.3469-14T>C)
c.8296-14T>C (n.8296-14T>C)
c.4891-14T>C (n.4891-14T>C)
c.8128-14T>C (n.8128-14T>C)
c.3074-14T>C
c.3301-14T>C (n.3301-14T>C)
n.2874-14T>C
c.8323-14T>C (n.8323-14T>C)
c.8314-14T>C (n.8314-14T>C)
c.8305-14T>C (n.8305-14T>C)
c.8191-14T>C (n.8191-14T>C)
c.8026-14T>C (n.8026-14T>C)
c.6175-14T>C (n.6175-14T>C)
c.3865-14T>C (n.3865-14T>C)
n.8564-14T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928611T=CA2290334813LAMA3c.3469-14T= (n.3469-14T=)
c.8296-14T= (n.8296-14T=)
c.4891-14T= (n.4891-14T=)
c.8128-14T= (n.8128-14T=)
c.3074-14T=
c.3301-14T= (n.3301-14T=)
n.2874-14T=
c.8323-14T= (n.8323-14T=)
c.8314-14T= (n.8314-14T=)
c.8305-14T= (n.8305-14T=)
c.8191-14T= (n.8191-14T=)
c.8026-14T= (n.8026-14T=)
c.6175-14T= (n.6175-14T=)
c.3865-14T= (n.3865-14T=)
n.8564-14T=
18g.23928612G>ACA2641297650LAMA3c.3469-13G>A (n.3469-13G>A)
c.8296-13G>A (n.8296-13G>A)
c.4891-13G>A (n.4891-13G>A)
c.8128-13G>A (n.8128-13G>A)
c.3074-13G>A
c.3301-13G>A (n.3301-13G>A)
n.2874-13G>A
c.8323-13G>A (n.8323-13G>A)
c.8314-13G>A (n.8314-13G>A)
c.8305-13G>A (n.8305-13G>A)
c.8191-13G>A (n.8191-13G>A)
c.8026-13G>A (n.8026-13G>A)
c.6175-13G>A (n.6175-13G>A)
c.3865-13G>A (n.3865-13G>A)
n.8564-13G>A
 gnomAD v4
18g.23928613T>CCA2290334815LAMA3c.3469-12T>C (n.3469-12T>C)
c.8296-12T>C (n.8296-12T>C)
c.4891-12T>C (n.4891-12T>C)
c.8128-12T>C (n.8128-12T>C)
c.3074-12T>C
c.3301-12T>C (n.3301-12T>C)
n.2874-12T>C
c.8323-12T>C (n.8323-12T>C)
c.8314-12T>C (n.8314-12T>C)
c.8305-12T>C (n.8305-12T>C)
c.8191-12T>C (n.8191-12T>C)
c.8026-12T>C (n.8026-12T>C)
c.6175-12T>C (n.6175-12T>C)
c.3865-12T>C (n.3865-12T>C)
n.8564-12T>C
 dbSNP
18g.23928613T=CA2290334814LAMA3c.3469-12T= (n.3469-12T=)
c.8296-12T= (n.8296-12T=)
c.4891-12T= (n.4891-12T=)
c.8128-12T= (n.8128-12T=)
c.3074-12T=
c.3301-12T= (n.3301-12T=)
n.2874-12T=
c.8323-12T= (n.8323-12T=)
c.8314-12T= (n.8314-12T=)
c.8305-12T= (n.8305-12T=)
c.8191-12T= (n.8191-12T=)
c.8026-12T= (n.8026-12T=)
c.6175-12T= (n.6175-12T=)
c.3865-12T= (n.3865-12T=)
n.8564-12T=
18g.23928615T>CCA2697555443LAMA3c.3469-10T>C (n.3469-10T>C)
c.8296-10T>C (n.8296-10T>C)
c.4891-10T>C (n.4891-10T>C)
c.8128-10T>C (n.8128-10T>C)
c.3074-10T>C
c.3301-10T>C (n.3301-10T>C)
n.2874-10T>C
c.8323-10T>C (n.8323-10T>C)
c.8314-10T>C (n.8314-10T>C)
c.8305-10T>C (n.8305-10T>C)
c.8191-10T>C (n.8191-10T>C)
c.8026-10T>C (n.8026-10T>C)
c.6175-10T>C (n.6175-10T>C)
c.3865-10T>C (n.3865-10T>C)
n.8564-10T>C
 ClinVar
18g.23928617C>ACA2499225087LAMA3c.3469-8C>A (n.3469-8C>A)
c.8296-8C>A (n.8296-8C>A)
c.4891-8C>A (n.4891-8C>A)
c.8128-8C>A (n.8128-8C>A)
c.3074-8C>A
c.3301-8C>A (n.3301-8C>A)
n.2874-8C>A
c.8323-8C>A (n.8323-8C>A)
c.8314-8C>A (n.8314-8C>A)
c.8305-8C>A (n.8305-8C>A)
c.8191-8C>A (n.8191-8C>A)
c.8026-8C>A (n.8026-8C>A)
c.6175-8C>A (n.6175-8C>A)
c.3865-8C>A (n.3865-8C>A)
n.8564-8C>A
 ClinVar dbSNP gnomAD v4
18g.23928618A>GCA2580095533LAMA3c.3469-7A>G (n.3469-7A>G)
c.8296-7A>G (n.8296-7A>G)
c.4891-7A>G (n.4891-7A>G)
c.8128-7A>G (n.8128-7A>G)
c.3074-7A>G
c.3301-7A>G (n.3301-7A>G)
n.2874-7A>G
c.8323-7A>G (n.8323-7A>G)
c.8314-7A>G (n.8314-7A>G)
c.8305-7A>G (n.8305-7A>G)
c.8191-7A>G (n.8191-7A>G)
c.8026-7A>G (n.8026-7A>G)
c.6175-7A>G (n.6175-7A>G)
c.3865-7A>G (n.3865-7A>G)
n.8564-7A>G
 ClinVar gnomAD v4
18g.23928619T>CCA8916898LAMA3c.3469-6T>C (n.3469-6T>C)
c.8296-6T>C (n.8296-6T>C)
c.4891-6T>C (n.4891-6T>C)
c.8128-6T>C (n.8128-6T>C)
c.3074-6T>C
c.3301-6T>C (n.3301-6T>C)
n.2874-6T>C
c.8323-6T>C (n.8323-6T>C)
c.8314-6T>C (n.8314-6T>C)
c.8305-6T>C (n.8305-6T>C)
c.8191-6T>C (n.8191-6T>C)
c.8026-6T>C (n.8026-6T>C)
c.6175-6T>C (n.6175-6T>C)
c.3865-6T>C (n.3865-6T>C)
n.8564-6T>C
 dbSNP ExAC
18g.23928619T=CA2290334816LAMA3c.3469-6T= (n.3469-6T=)
c.8296-6T= (n.8296-6T=)
c.4891-6T= (n.4891-6T=)
c.8128-6T= (n.8128-6T=)
c.3074-6T=
c.3301-6T= (n.3301-6T=)
n.2874-6T=
c.8323-6T= (n.8323-6T=)
c.8314-6T= (n.8314-6T=)
c.8305-6T= (n.8305-6T=)
c.8191-6T= (n.8191-6T=)
c.8026-6T= (n.8026-6T=)
c.6175-6T= (n.6175-6T=)
c.3865-6T= (n.3865-6T=)
n.8564-6T=
18g.23928621T>GCA2641297654LAMA3c.3469-4T>G (n.3469-4T>G)
c.8296-4T>G (n.8296-4T>G)
c.4891-4T>G (n.4891-4T>G)
c.8128-4T>G (n.8128-4T>G)
c.3074-4T>G
c.3301-4T>G (n.3301-4T>G)
n.2874-4T>G
c.8323-4T>G (n.8323-4T>G)
c.8314-4T>G (n.8314-4T>G)
c.8305-4T>G (n.8305-4T>G)
c.8191-4T>G (n.8191-4T>G)
c.8026-4T>G (n.8026-4T>G)
c.6175-4T>G (n.6175-4T>G)
c.3865-4T>G (n.3865-4T>G)
n.8564-4T>G
 gnomAD v4
18g.23928622C>TCA2641297655LAMA3c.3469-3C>T (n.3469-3C>T)
c.8296-3C>T (n.8296-3C>T)
c.4891-3C>T (n.4891-3C>T)
c.8128-3C>T (n.8128-3C>T)
c.3074-3C>T
c.3301-3C>T (n.3301-3C>T)
n.2874-3C>T
c.8323-3C>T (n.8323-3C>T)
c.8314-3C>T (n.8314-3C>T)
c.8305-3C>T (n.8305-3C>T)
c.8191-3C>T (n.8191-3C>T)
c.8026-3C>T (n.8026-3C>T)
c.6175-3C>T (n.6175-3C>T)
c.3865-3C>T (n.3865-3C>T)
n.8564-3C>T
 gnomAD v4
18g.23928623A>CCA402063609LAMA3c.3469-2A>C (n.3469-2A>C)
c.8296-2A>C (n.8296-2A>C)
c.4891-2A>C (n.4891-2A>C)
c.8128-2A>C (n.8128-2A>C)
c.3074-2A>C
c.3301-2A>C (n.3301-2A>C)
n.2874-2A>C
c.8323-2A>C (n.8323-2A>C)
c.8314-2A>C (n.8314-2A>C)
c.8305-2A>C (n.8305-2A>C)
c.8191-2A>C (n.8191-2A>C)
c.8026-2A>C (n.8026-2A>C)
c.6175-2A>C (n.6175-2A>C)
c.3865-2A>C (n.3865-2A>C)
n.8564-2A>C
18g.23928623A>GCA402063614LAMA3c.3469-2A>G (n.3469-2A>G)
c.8296-2A>G (n.8296-2A>G)
c.4891-2A>G (n.4891-2A>G)
c.8128-2A>G (n.8128-2A>G)
c.3074-2A>G
c.3301-2A>G (n.3301-2A>G)
n.2874-2A>G
c.8323-2A>G (n.8323-2A>G)
c.8314-2A>G (n.8314-2A>G)
c.8305-2A>G (n.8305-2A>G)
c.8191-2A>G (n.8191-2A>G)
c.8026-2A>G (n.8026-2A>G)
c.6175-2A>G (n.6175-2A>G)
c.3865-2A>G (n.3865-2A>G)
n.8564-2A>G
18g.23928623A>TCA402063611LAMA3c.3469-2A>T (n.3469-2A>T)
c.8296-2A>T (n.8296-2A>T)
c.4891-2A>T (n.4891-2A>T)
c.8128-2A>T (n.8128-2A>T)
c.3074-2A>T
c.3301-2A>T (n.3301-2A>T)
n.2874-2A>T
c.8323-2A>T (n.8323-2A>T)
c.8314-2A>T (n.8314-2A>T)
c.8305-2A>T (n.8305-2A>T)
c.8191-2A>T (n.8191-2A>T)
c.8026-2A>T (n.8026-2A>T)
c.6175-2A>T (n.6175-2A>T)
c.3865-2A>T (n.3865-2A>T)
n.8564-2A>T
18g.23928624G>ACA402063617LAMA3c.3469-1G>A (n.3469-1G>A)
c.8296-1G>A (n.8296-1G>A)
c.4891-1G>A (n.4891-1G>A)
c.8128-1G>A (n.8128-1G>A)
c.3074-1G>A
c.3301-1G>A (n.3301-1G>A)
n.2874-1G>A
c.8323-1G>A (n.8323-1G>A)
c.8314-1G>A (n.8314-1G>A)
c.8305-1G>A (n.8305-1G>A)
c.8191-1G>A (n.8191-1G>A)
c.8026-1G>A (n.8026-1G>A)
c.6175-1G>A (n.6175-1G>A)
c.3865-1G>A (n.3865-1G>A)
n.8564-1G>A
18g.23928624G>CCA402063620LAMA3c.3469-1G>C (n.3469-1G>C)
c.8296-1G>C (n.8296-1G>C)
c.4891-1G>C (n.4891-1G>C)
c.8128-1G>C (n.8128-1G>C)
c.3074-1G>C
c.3301-1G>C (n.3301-1G>C)
n.2874-1G>C
c.8323-1G>C (n.8323-1G>C)
c.8314-1G>C (n.8314-1G>C)
c.8305-1G>C (n.8305-1G>C)
c.8191-1G>C (n.8191-1G>C)
c.8026-1G>C (n.8026-1G>C)
c.6175-1G>C (n.6175-1G>C)
c.3865-1G>C (n.3865-1G>C)
n.8564-1G>C
18g.23928624G>TCA402063623LAMA3c.3469-1G>T (n.3469-1G>T)
c.8296-1G>T (n.8296-1G>T)
c.4891-1G>T (n.4891-1G>T)
c.8128-1G>T (n.8128-1G>T)
c.3074-1G>T
c.3301-1G>T (n.3301-1G>T)
n.2874-1G>T
c.8323-1G>T (n.8323-1G>T)
c.8314-1G>T (n.8314-1G>T)
c.8305-1G>T (n.8305-1G>T)
c.8191-1G>T (n.8191-1G>T)
c.8026-1G>T (n.8026-1G>T)
c.6175-1G>T (n.6175-1G>T)
c.3865-1G>T (n.3865-1G>T)
n.8564-1G>T
18g.23928625C>ACA402063628LAMA3c.3469C>A (p.Leu1157Ile)
c.8296C>A (p.Leu2766Ile)
c.4891C>A (p.Leu1631Ile)
c.8128C>A (p.Leu2710Ile)
c.3074C>A
c.3301C>A (p.Leu1101Ile)
c.1C>A (p.Leu1Ile)
n.2874C>A
c.8323C>A (p.Leu2775Ile)
c.8314C>A (p.Leu2772Ile)
c.8305C>A (p.Leu2769Ile)
c.8191C>A (p.Leu2731Ile)
c.8026C>A (p.Leu2676Ile)
c.6175C>A (p.Leu2059Ile)
c.3865C>A (p.Leu1289Ile)
n.8564C>A
18g.23928625C=CA2290334817LAMA3c.3469C= (p.Leu1157=)
c.8296C= (p.Leu2766=)
c.4891C= (p.Leu1631=)
c.8128C= (p.Leu2710=)
c.3074C=
c.3301C= (p.Leu1101=)
c.1C= (p.Leu1=)
n.2874C=
c.8323C= (p.Leu2775=)
c.8314C= (p.Leu2772=)
c.8305C= (p.Leu2769=)
c.8191C= (p.Leu2731=)
c.8026C= (p.Leu2676=)
c.6175C= (p.Leu2059=)
c.3865C= (p.Leu1289=)
n.8564C=
18g.23928625C>GCA402063631LAMA3c.3469C>G (p.Leu1157Val)
c.8296C>G (p.Leu2766Val)
c.4891C>G (p.Leu1631Val)
c.8128C>G (p.Leu2710Val)
c.3074C>G
c.3301C>G (p.Leu1101Val)
c.1C>G (p.Leu1Val)
n.2874C>G
c.8323C>G (p.Leu2775Val)
c.8314C>G (p.Leu2772Val)
c.8305C>G (p.Leu2769Val)
c.8191C>G (p.Leu2731Val)
c.8026C>G (p.Leu2676Val)
c.6175C>G (p.Leu2059Val)
c.3865C>G (p.Leu1289Val)
n.8564C>G
18g.23928625C>TCA402063633LAMA3c.3469C>T (p.Leu1157Phe)
c.8296C>T (p.Leu2766Phe)
c.4891C>T (p.Leu1631Phe)
c.8128C>T (p.Leu2710Phe)
c.3074C>T
c.3301C>T (p.Leu1101Phe)
c.1C>T (p.Leu1Phe)
n.2874C>T
c.8323C>T (p.Leu2775Phe)
c.8314C>T (p.Leu2772Phe)
c.8305C>T (p.Leu2769Phe)
c.8191C>T (p.Leu2731Phe)
c.8026C>T (p.Leu2676Phe)
c.6175C>T (p.Leu2059Phe)
c.3865C>T (p.Leu1289Phe)
n.8564C>T
 dbSNP gnomAD v2 gnomAD v4
18g.23928626T>ACA402063636LAMA3c.3470T>A (p.Leu1157His)
c.8297T>A (p.Leu2766His)
c.4892T>A (p.Leu1631His)
c.8129T>A (p.Leu2710His)
c.3075T>A
c.3302T>A (p.Leu1101His)
c.2T>A (p.Leu1His)
n.2875T>A
c.8324T>A (p.Leu2775His)
c.8315T>A (p.Leu2772His)
c.8306T>A (p.Leu2769His)
c.8192T>A (p.Leu2731His)
c.8027T>A (p.Leu2676His)
c.6176T>A (p.Leu2059His)
c.3866T>A (p.Leu1289His)
n.8565T>A
18g.23928626T>CCA402063640LAMA3c.3470T>C (p.Leu1157Pro)
c.8297T>C (p.Leu2766Pro)
c.4892T>C (p.Leu1631Pro)
c.8129T>C (p.Leu2710Pro)
c.3075T>C
c.3302T>C (p.Leu1101Pro)
c.2T>C (p.Leu1Pro)
n.2875T>C
c.8324T>C (p.Leu2775Pro)
c.8315T>C (p.Leu2772Pro)
c.8306T>C (p.Leu2769Pro)
c.8192T>C (p.Leu2731Pro)
c.8027T>C (p.Leu2676Pro)
c.6176T>C (p.Leu2059Pro)
c.3866T>C (p.Leu1289Pro)
n.8565T>C
18g.23928626T>GCA402063642LAMA3c.3470T>G (p.Leu1157Arg)
c.8297T>G (p.Leu2766Arg)
c.4892T>G (p.Leu1631Arg)
c.8129T>G (p.Leu2710Arg)
c.3075T>G
c.3302T>G (p.Leu1101Arg)
c.2T>G (p.Leu1Arg)
n.2875T>G
c.8324T>G (p.Leu2775Arg)
c.8315T>G (p.Leu2772Arg)
c.8306T>G (p.Leu2769Arg)
c.8192T>G (p.Leu2731Arg)
c.8027T>G (p.Leu2676Arg)
c.6176T>G (p.Leu2059Arg)
c.3866T>G (p.Leu1289Arg)
n.8565T>G
18g.23928627T>ACA503340689LAMA3c.3471T>A (p.Leu1157=)
c.8298T>A (p.Leu2766=)
c.4893T>A (p.Leu1631=)
c.8130T>A (p.Leu2710=)
c.3076T>A
c.3303T>A (p.Leu1101=)
c.3T>A (p.Leu1=)
n.2876T>A
c.8325T>A (p.Leu2775=)
c.8316T>A (p.Leu2772=)
c.8307T>A (p.Leu2769=)
c.8193T>A (p.Leu2731=)
c.8028T>A (p.Leu2676=)
c.6177T>A (p.Leu2059=)
c.3867T>A (p.Leu1289=)
n.8566T>A
18g.23928627T>CCA503340690LAMA3c.3471T>C (p.Leu1157=)
c.8298T>C (p.Leu2766=)
c.4893T>C (p.Leu1631=)
c.8130T>C (p.Leu2710=)
c.3076T>C
c.3303T>C (p.Leu1101=)
c.3T>C (p.Leu1=)
n.2876T>C
c.8325T>C (p.Leu2775=)
c.8316T>C (p.Leu2772=)
c.8307T>C (p.Leu2769=)
c.8193T>C (p.Leu2731=)
c.8028T>C (p.Leu2676=)
c.6177T>C (p.Leu2059=)
c.3867T>C (p.Leu1289=)
n.8566T>C
18g.23928627T>GCA503340692LAMA3c.3471T>G (p.Leu1157=)
c.8298T>G (p.Leu2766=)
c.4893T>G (p.Leu1631=)
c.8130T>G (p.Leu2710=)
c.3076T>G
c.3303T>G (p.Leu1101=)
c.3T>G (p.Leu1=)
n.2876T>G
c.8325T>G (p.Leu2775=)
c.8316T>G (p.Leu2772=)
c.8307T>G (p.Leu2769=)
c.8193T>G (p.Leu2731=)
c.8028T>G (p.Leu2676=)
c.6177T>G (p.Leu2059=)
c.3867T>G (p.Leu1289=)
n.8566T>G
18g.23928628delCA2576473117LAMA3c.3472del (p.Val1158CysfsTer12)
c.8299del (p.Val2767CysfsTer12)
c.4894del (p.Val1632CysfsTer12)
c.8131del (p.Val2711CysfsTer12)
c.3077del
c.3304del (p.Val1102CysfsTer12)
c.4del (p.Val2CysfsTer12)
n.2877del
c.8326del (p.Val2776CysfsTer12)
c.8317del (p.Val2773CysfsTer12)
c.8308del (p.Val2770CysfsTer12)
c.8194del (p.Val2732CysfsTer12)
c.8029del (p.Val2677CysfsTer12)
c.6178del (p.Val2060CysfsTer12)
c.3868del (p.Val1290CysfsTer12)
n.8567del
 ClinVar gnomAD v4
18g.23928628G>ACA402063646LAMA3c.3472G>A (p.Val1158Met)
c.8299G>A (p.Val2767Met)
c.4894G>A (p.Val1632Met)
c.8131G>A (p.Val2711Met)
c.3077G>A
c.3304G>A (p.Val1102Met)
c.4G>A (p.Val2Met)
n.2877G>A
c.8326G>A (p.Val2776Met)
c.8317G>A (p.Val2773Met)
c.8308G>A (p.Val2770Met)
c.8194G>A (p.Val2732Met)
c.8029G>A (p.Val2677Met)
c.6178G>A (p.Val2060Met)
c.3868G>A (p.Val1290Met)
n.8567G>A
18g.23928628G>CCA402063649LAMA3c.3472G>C (p.Val1158Leu)
c.8299G>C (p.Val2767Leu)
c.4894G>C (p.Val1632Leu)
c.8131G>C (p.Val2711Leu)
c.3077G>C
c.3304G>C (p.Val1102Leu)
c.4G>C (p.Val2Leu)
n.2877G>C
c.8326G>C (p.Val2776Leu)
c.8317G>C (p.Val2773Leu)
c.8308G>C (p.Val2770Leu)
c.8194G>C (p.Val2732Leu)
c.8029G>C (p.Val2677Leu)
c.6178G>C (p.Val2060Leu)
c.3868G>C (p.Val1290Leu)
n.8567G>C
18g.23928628G>TCA402063651LAMA3c.3472G>T (p.Val1158Leu)
c.8299G>T (p.Val2767Leu)
c.4894G>T (p.Val1632Leu)
c.8131G>T (p.Val2711Leu)
c.3077G>T
c.3304G>T (p.Val1102Leu)
c.4G>T (p.Val2Leu)
n.2877G>T
c.8326G>T (p.Val2776Leu)
c.8317G>T (p.Val2773Leu)
c.8308G>T (p.Val2770Leu)
c.8194G>T (p.Val2732Leu)
c.8029G>T (p.Val2677Leu)
c.6178G>T (p.Val2060Leu)
c.3868G>T (p.Val1290Leu)
n.8567G>T
18g.23928629T>ACA402063655LAMA3c.3473T>A (p.Val1158Glu)
c.8300T>A (p.Val2767Glu)
c.4895T>A (p.Val1632Glu)
c.8132T>A (p.Val2711Glu)
c.3078T>A
c.3305T>A (p.Val1102Glu)
c.5T>A (p.Val2Glu)
n.2878T>A
c.8327T>A (p.Val2776Glu)
c.8318T>A (p.Val2773Glu)
c.8309T>A (p.Val2770Glu)
c.8195T>A (p.Val2732Glu)
c.8030T>A (p.Val2677Glu)
c.6179T>A (p.Val2060Glu)
c.3869T>A (p.Val1290Glu)
n.8568T>A
18g.23928629T>CCA8916899LAMA3c.3473T>C (p.Val1158Ala)
c.8300T>C (p.Val2767Ala)
c.4895T>C (p.Val1632Ala)
c.8132T>C (p.Val2711Ala)
c.3078T>C
c.3305T>C (p.Val1102Ala)
c.5T>C (p.Val2Ala)
n.2878T>C
c.8327T>C (p.Val2776Ala)
c.8318T>C (p.Val2773Ala)
c.8309T>C (p.Val2770Ala)
c.8195T>C (p.Val2732Ala)
c.8030T>C (p.Val2677Ala)
c.6179T>C (p.Val2060Ala)
c.3869T>C (p.Val1290Ala)
n.8568T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928629T>GCA402063658LAMA3c.3473T>G (p.Val1158Gly)
c.8300T>G (p.Val2767Gly)
c.4895T>G (p.Val1632Gly)
c.8132T>G (p.Val2711Gly)
c.3078T>G
c.3305T>G (p.Val1102Gly)
c.5T>G (p.Val2Gly)
n.2878T>G
c.8327T>G (p.Val2776Gly)
c.8318T>G (p.Val2773Gly)
c.8309T>G (p.Val2770Gly)
c.8195T>G (p.Val2732Gly)
c.8030T>G (p.Val2677Gly)
c.6179T>G (p.Val2060Gly)
c.3869T>G (p.Val1290Gly)
n.8568T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23928629T=CA2290334818LAMA3c.3473T= (p.Val1158=)
c.8300T= (p.Val2767=)
c.4895T= (p.Val1632=)
c.8132T= (p.Val2711=)
c.3078T=
c.3305T= (p.Val1102=)
c.5T= (p.Val2=)
n.2878T=
c.8327T= (p.Val2776=)
c.8318T= (p.Val2773=)
c.8309T= (p.Val2770=)
c.8195T= (p.Val2732=)
c.8030T= (p.Val2677=)
c.6179T= (p.Val2060=)
c.3869T= (p.Val1290=)
n.8568T=
18g.23928630G>ACA503340695LAMA3c.3474G>A (p.Val1158=)
c.8301G>A (p.Val2767=)
c.4896G>A (p.Val1632=)
c.8133G>A (p.Val2711=)
c.3079G>A
c.3306G>A (p.Val1102=)
c.6G>A (p.Val2=)
n.2879G>A
c.8328G>A (p.Val2776=)
c.8319G>A (p.Val2773=)
c.8310G>A (p.Val2770=)
c.8196G>A (p.Val2732=)
c.8031G>A (p.Val2677=)
c.6180G>A (p.Val2060=)
c.3870G>A (p.Val1290=)
n.8569G>A
 ClinVar dbSNP gnomAD v2
18g.23928630G>CCA503340697LAMA3c.3474G>C (p.Val1158=)
c.8301G>C (p.Val2767=)
c.4896G>C (p.Val1632=)
c.8133G>C (p.Val2711=)
c.3079G>C
c.3306G>C (p.Val1102=)
c.6G>C (p.Val2=)
n.2879G>C
c.8328G>C (p.Val2776=)
c.8319G>C (p.Val2773=)
c.8310G>C (p.Val2770=)
c.8196G>C (p.Val2732=)
c.8031G>C (p.Val2677=)
c.6180G>C (p.Val2060=)
c.3870G>C (p.Val1290=)
n.8569G>C
18g.23928630G=CA2290334819LAMA3c.3474G= (p.Val1158=)
c.8301G= (p.Val2767=)
c.4896G= (p.Val1632=)
c.8133G= (p.Val2711=)
c.3079G=
c.3306G= (p.Val1102=)
c.6G= (p.Val2=)
n.2879G=
c.8328G= (p.Val2776=)
c.8319G= (p.Val2773=)
c.8310G= (p.Val2770=)
c.8196G= (p.Val2732=)
c.8031G= (p.Val2677=)
c.6180G= (p.Val2060=)
c.3870G= (p.Val1290=)
n.8569G=
18g.23928630G>TCA503340696LAMA3c.3474G>T (p.Val1158=)
c.8301G>T (p.Val2767=)
c.4896G>T (p.Val1632=)
c.8133G>T (p.Val2711=)
c.3079G>T
c.3306G>T (p.Val1102=)
c.6G>T (p.Val2=)
n.2879G>T
c.8328G>T (p.Val2776=)
c.8319G>T (p.Val2773=)
c.8310G>T (p.Val2770=)
c.8196G>T (p.Val2732=)
c.8031G>T (p.Val2677=)
c.6180G>T (p.Val2060=)
c.3870G>T (p.Val1290=)
n.8569G>T
18g.23928631C>ACA503340698LAMA3c.3475C>A (p.Arg1159=)
c.8302C>A (p.Arg2768=)
c.4897C>A (p.Arg1633=)
c.8134C>A (p.Arg2712=)
c.3080C>A
c.3307C>A (p.Arg1103=)
c.7C>A (p.Arg3=)
n.2880C>A
c.8329C>A (p.Arg2777=)
c.8320C>A (p.Arg2774=)
c.8311C>A (p.Arg2771=)
c.8197C>A (p.Arg2733=)
c.8032C>A (p.Arg2678=)
c.6181C>A (p.Arg2061=)
c.3871C>A (p.Arg1291=)
n.8570C>A
18g.23928631C=CA2290334820LAMA3c.3475C= (p.Arg1159=)
c.8302C= (p.Arg2768=)
c.4897C= (p.Arg1633=)
c.8134C= (p.Arg2712=)
c.3080C=
c.3307C= (p.Arg1103=)
c.7C= (p.Arg3=)
n.2880C=
c.8329C= (p.Arg2777=)
c.8320C= (p.Arg2774=)
c.8311C= (p.Arg2771=)
c.8197C= (p.Arg2733=)
c.8032C= (p.Arg2678=)
c.6181C= (p.Arg2061=)
c.3871C= (p.Arg1291=)
n.8570C=
18g.23928631C>GCA402063665LAMA3c.3475C>G (p.Arg1159Gly)
c.8302C>G (p.Arg2768Gly)
c.4897C>G (p.Arg1633Gly)
c.8134C>G (p.Arg2712Gly)
c.3080C>G
c.3307C>G (p.Arg1103Gly)
c.7C>G (p.Arg3Gly)
n.2880C>G
c.8329C>G (p.Arg2777Gly)
c.8320C>G (p.Arg2774Gly)
c.8311C>G (p.Arg2771Gly)
c.8197C>G (p.Arg2733Gly)
c.8032C>G (p.Arg2678Gly)
c.6181C>G (p.Arg2061Gly)
c.3871C>G (p.Arg1291Gly)
n.8570C>G
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.23928631C>TCA297122852LAMA3c.3475C>T (p.Arg1159Ter)
c.8302C>T (p.Arg2768Ter)
c.4897C>T (p.Arg1633Ter)
c.8134C>T (p.Arg2712Ter)
c.3080C>T
c.3307C>T (p.Arg1103Ter)
c.7C>T (p.Arg3Ter)
n.2880C>T
c.8329C>T (p.Arg2777Ter)
c.8320C>T (p.Arg2774Ter)
c.8311C>T (p.Arg2771Ter)
c.8197C>T (p.Arg2733Ter)
c.8032C>T (p.Arg2678Ter)
c.6181C>T (p.Arg2061Ter)
c.3871C>T (p.Arg1291Ter)
n.8570C>T
 ClinVar dbSNP gnomAD v4
18g.23928632G>ACA402063674LAMA3c.3476G>A (p.Arg1159Gln)
c.8303G>A (p.Arg2768Gln)
c.4898G>A (p.Arg1633Gln)
c.8135G>A (p.Arg2712Gln)
c.3081G>A
c.3308G>A (p.Arg1103Gln)
c.8G>A (p.Arg3Gln)
n.2881G>A
c.8330G>A (p.Arg2777Gln)
c.8321G>A (p.Arg2774Gln)
c.8312G>A (p.Arg2771Gln)
c.8198G>A (p.Arg2733Gln)
c.8033G>A (p.Arg2678Gln)
c.6182G>A (p.Arg2061Gln)
c.3872G>A (p.Arg1291Gln)
n.8571G>A
 dbSNP gnomAD v3 gnomAD v4
18g.23928632G>CCA402063676LAMA3c.3476G>C (p.Arg1159Pro)
c.8303G>C (p.Arg2768Pro)
c.4898G>C (p.Arg1633Pro)
c.8135G>C (p.Arg2712Pro)
c.3081G>C
c.3308G>C (p.Arg1103Pro)
c.8G>C (p.Arg3Pro)
n.2881G>C
c.8330G>C (p.Arg2777Pro)
c.8321G>C (p.Arg2774Pro)
c.8312G>C (p.Arg2771Pro)
c.8198G>C (p.Arg2733Pro)
c.8033G>C (p.Arg2678Pro)
c.6182G>C (p.Arg2061Pro)
c.3872G>C (p.Arg1291Pro)
n.8571G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23928632G=CA2290334821LAMA3c.3476G= (p.Arg1159=)
c.8303G= (p.Arg2768=)
c.4898G= (p.Arg1633=)
c.8135G= (p.Arg2712=)
c.3081G=
c.3308G= (p.Arg1103=)
c.8G= (p.Arg3=)
n.2881G=
c.8330G= (p.Arg2777=)
c.8321G= (p.Arg2774=)
c.8312G= (p.Arg2771=)
c.8198G= (p.Arg2733=)
c.8033G= (p.Arg2678=)
c.6182G= (p.Arg2061=)
c.3872G= (p.Arg1291=)
n.8571G=
18g.23928632G>TCA402063680LAMA3c.3476G>T (p.Arg1159Leu)
c.8303G>T (p.Arg2768Leu)
c.4898G>T (p.Arg1633Leu)
c.8135G>T (p.Arg2712Leu)
c.3081G>T
c.3308G>T (p.Arg1103Leu)
c.8G>T (p.Arg3Leu)
n.2881G>T
c.8330G>T (p.Arg2777Leu)
c.8321G>T (p.Arg2774Leu)
c.8312G>T (p.Arg2771Leu)
c.8198G>T (p.Arg2733Leu)
c.8033G>T (p.Arg2678Leu)
c.6182G>T (p.Arg2061Leu)
c.3872G>T (p.Arg1291Leu)
n.8571G>T
 gnomAD v4 COSMIC COSMIC
18g.23928633A>CCA503340700LAMA3c.3477A>C (p.Arg1159=)
c.8304A>C (p.Arg2768=)
c.4899A>C (p.Arg1633=)
c.8136A>C (p.Arg2712=)
c.3082A>C
c.3309A>C (p.Arg1103=)
c.9A>C (p.Arg3=)
n.2882A>C
c.8331A>C (p.Arg2777=)
c.8322A>C (p.Arg2774=)
c.8313A>C (p.Arg2771=)
c.8199A>C (p.Arg2733=)
c.8034A>C (p.Arg2678=)
c.6183A>C (p.Arg2061=)
c.3873A>C (p.Arg1291=)
n.8572A>C
18g.23928633A>GCA503340702LAMA3c.3477A>G (p.Arg1159=)
c.8304A>G (p.Arg2768=)
c.4899A>G (p.Arg1633=)
c.8136A>G (p.Arg2712=)
c.3082A>G
c.3309A>G (p.Arg1103=)
c.9A>G (p.Arg3=)
n.2882A>G
c.8331A>G (p.Arg2777=)
c.8322A>G (p.Arg2774=)
c.8313A>G (p.Arg2771=)
c.8199A>G (p.Arg2733=)
c.8034A>G (p.Arg2678=)
c.6183A>G (p.Arg2061=)
c.3873A>G (p.Arg1291=)
n.8572A>G
18g.23928633A>TCA503340701LAMA3c.3477A>T (p.Arg1159=)
c.8304A>T (p.Arg2768=)
c.4899A>T (p.Arg1633=)
c.8136A>T (p.Arg2712=)
c.3082A>T
c.3309A>T (p.Arg1103=)
c.9A>T (p.Arg3=)
n.2882A>T
c.8331A>T (p.Arg2777=)
c.8322A>T (p.Arg2774=)
c.8313A>T (p.Arg2771=)
c.8199A>T (p.Arg2733=)
c.8034A>T (p.Arg2678=)
c.6183A>T (p.Arg2061=)
c.3873A>T (p.Arg1291=)
n.8572A>T
18g.23928634T>ACA402063683LAMA3c.3478T>A (p.Ser1160Thr)
c.8305T>A (p.Ser2769Thr)
c.4900T>A (p.Ser1634Thr)
c.8137T>A (p.Ser2713Thr)
c.3083T>A
c.3310T>A (p.Ser1104Thr)
c.10T>A (p.Ser4Thr)
n.2883T>A
c.8332T>A (p.Ser2778Thr)
c.8323T>A (p.Ser2775Thr)
c.8314T>A (p.Ser2772Thr)
c.8200T>A (p.Ser2734Thr)
c.8035T>A (p.Ser2679Thr)
c.6184T>A (p.Ser2062Thr)
c.3874T>A (p.Ser1292Thr)
n.8573T>A
18g.23928634T>CCA402063686LAMA3c.3478T>C (p.Ser1160Pro)
c.8305T>C (p.Ser2769Pro)
c.4900T>C (p.Ser1634Pro)
c.8137T>C (p.Ser2713Pro)
c.3083T>C
c.3310T>C (p.Ser1104Pro)
c.10T>C (p.Ser4Pro)
n.2883T>C
c.8332T>C (p.Ser2778Pro)
c.8323T>C (p.Ser2775Pro)
c.8314T>C (p.Ser2772Pro)
c.8200T>C (p.Ser2734Pro)
c.8035T>C (p.Ser2679Pro)
c.6184T>C (p.Ser2062Pro)
c.3874T>C (p.Ser1292Pro)
n.8573T>C
18g.23928634T>GCA402063688LAMA3c.3478T>G (p.Ser1160Ala)
c.8305T>G (p.Ser2769Ala)
c.4900T>G (p.Ser1634Ala)
c.8137T>G (p.Ser2713Ala)
c.3083T>G
c.3310T>G (p.Ser1104Ala)
c.10T>G (p.Ser4Ala)
n.2883T>G
c.8332T>G (p.Ser2778Ala)
c.8323T>G (p.Ser2775Ala)
c.8314T>G (p.Ser2772Ala)
c.8200T>G (p.Ser2734Ala)
c.8035T>G (p.Ser2679Ala)
c.6184T>G (p.Ser2062Ala)
c.3874T>G (p.Ser1292Ala)
n.8573T>G
18g.23928635C>ACA402063693LAMA3c.3479C>A (p.Ser1160Tyr)
c.8306C>A (p.Ser2769Tyr)
c.4901C>A (p.Ser1634Tyr)
c.8138C>A (p.Ser2713Tyr)
c.3084C>A
c.3311C>A (p.Ser1104Tyr)
c.11C>A (p.Ser4Tyr)
n.2884C>A
c.8333C>A (p.Ser2778Tyr)
c.8324C>A (p.Ser2775Tyr)
c.8315C>A (p.Ser2772Tyr)
c.8201C>A (p.Ser2734Tyr)
c.8036C>A (p.Ser2679Tyr)
c.6185C>A (p.Ser2062Tyr)
c.3875C>A (p.Ser1292Tyr)
n.8574C>A
18g.23928635C>GCA402063696LAMA3c.3479C>G (p.Ser1160Cys)
c.8306C>G (p.Ser2769Cys)
c.4901C>G (p.Ser1634Cys)
c.8138C>G (p.Ser2713Cys)
c.3084C>G
c.3311C>G (p.Ser1104Cys)
c.11C>G (p.Ser4Cys)
n.2884C>G
c.8333C>G (p.Ser2778Cys)
c.8324C>G (p.Ser2775Cys)
c.8315C>G (p.Ser2772Cys)
c.8201C>G (p.Ser2734Cys)
c.8036C>G (p.Ser2679Cys)
c.6185C>G (p.Ser2062Cys)
c.3875C>G (p.Ser1292Cys)
n.8574C>G
18g.23928635C>TCA402063698LAMA3c.3479C>T (p.Ser1160Phe)
c.8306C>T (p.Ser2769Phe)
c.4901C>T (p.Ser1634Phe)
c.8138C>T (p.Ser2713Phe)
c.3084C>T
c.3311C>T (p.Ser1104Phe)
c.11C>T (p.Ser4Phe)
n.2884C>T
c.8333C>T (p.Ser2778Phe)
c.8324C>T (p.Ser2775Phe)
c.8315C>T (p.Ser2772Phe)
c.8201C>T (p.Ser2734Phe)
c.8036C>T (p.Ser2679Phe)
c.6185C>T (p.Ser2062Phe)
c.3875C>T (p.Ser1292Phe)
n.8574C>T
18g.23928636T>ACA503340703LAMA3c.3480T>A (p.Ser1160=)
c.8307T>A (p.Ser2769=)
c.4902T>A (p.Ser1634=)
c.8139T>A (p.Ser2713=)
c.3085T>A
c.3312T>A (p.Ser1104=)
c.12T>A (p.Ser4=)
n.2885T>A
c.8334T>A (p.Ser2778=)
c.8325T>A (p.Ser2775=)
c.8316T>A (p.Ser2772=)
c.8202T>A (p.Ser2734=)
c.8037T>A (p.Ser2679=)
c.6186T>A (p.Ser2062=)
c.3876T>A (p.Ser1292=)
n.8575T>A
18g.23928636T>CCA503340704LAMA3c.3480T>C (p.Ser1160=)
c.8307T>C (p.Ser2769=)
c.4902T>C (p.Ser1634=)
c.8139T>C (p.Ser2713=)
c.3085T>C
c.3312T>C (p.Ser1104=)
c.12T>C (p.Ser4=)
n.2885T>C
c.8334T>C (p.Ser2778=)
c.8325T>C (p.Ser2775=)
c.8316T>C (p.Ser2772=)
c.8202T>C (p.Ser2734=)
c.8037T>C (p.Ser2679=)
c.6186T>C (p.Ser2062=)
c.3876T>C (p.Ser1292=)
n.8575T>C
18g.23928636T>GCA503340705LAMA3c.3480T>G (p.Ser1160=)
c.8307T>G (p.Ser2769=)
c.4902T>G (p.Ser1634=)
c.8139T>G (p.Ser2713=)
c.3085T>G
c.3312T>G (p.Ser1104=)
c.12T>G (p.Ser4=)
n.2885T>G
c.8334T>G (p.Ser2778=)
c.8325T>G (p.Ser2775=)
c.8316T>G (p.Ser2772=)
c.8202T>G (p.Ser2734=)
c.8037T>G (p.Ser2679=)
c.6186T>G (p.Ser2062=)
c.3876T>G (p.Ser1292=)
n.8575T>G
18g.23928637G>ACA402063707LAMA3c.3481G>A (p.Ala1161Thr)
c.8308G>A (p.Ala2770Thr)
c.4903G>A (p.Ala1635Thr)
c.8140G>A (p.Ala2714Thr)
c.3086G>A
c.3313G>A (p.Ala1105Thr)
c.13G>A (p.Ala5Thr)
n.2886G>A
c.8335G>A (p.Ala2779Thr)
c.8326G>A (p.Ala2776Thr)
c.8317G>A (p.Ala2773Thr)
c.8203G>A (p.Ala2735Thr)
c.8038G>A (p.Ala2680Thr)
c.6187G>A (p.Ala2063Thr)
c.3877G>A (p.Ala1293Thr)
n.8576G>A
18g.23928637G>CCA402063704LAMA3c.3481G>C (p.Ala1161Pro)
c.8308G>C (p.Ala2770Pro)
c.4903G>C (p.Ala1635Pro)
c.8140G>C (p.Ala2714Pro)
c.3086G>C
c.3313G>C (p.Ala1105Pro)
c.13G>C (p.Ala5Pro)
n.2886G>C
c.8335G>C (p.Ala2779Pro)
c.8326G>C (p.Ala2776Pro)
c.8317G>C (p.Ala2773Pro)
c.8203G>C (p.Ala2735Pro)
c.8038G>C (p.Ala2680Pro)
c.6187G>C (p.Ala2063Pro)
c.3877G>C (p.Ala1293Pro)
n.8576G>C
 ClinVar dbSNP
18g.23928637G=CA2290334822LAMA3c.3481G= (p.Ala1161=)
c.8308G= (p.Ala2770=)
c.4903G= (p.Ala1635=)
c.8140G= (p.Ala2714=)
c.3086G=
c.3313G= (p.Ala1105=)
c.13G= (p.Ala5=)
n.2886G=
c.8335G= (p.Ala2779=)
c.8326G= (p.Ala2776=)
c.8317G= (p.Ala2773=)
c.8203G= (p.Ala2735=)
c.8038G= (p.Ala2680=)
c.6187G= (p.Ala2063=)
c.3877G= (p.Ala1293=)
n.8576G=
18g.23928637G>TCA402063701LAMA3c.3481G>T (p.Ala1161Ser)
c.8308G>T (p.Ala2770Ser)
c.4903G>T (p.Ala1635Ser)
c.8140G>T (p.Ala2714Ser)
c.3086G>T
c.3313G>T (p.Ala1105Ser)
c.13G>T (p.Ala5Ser)
n.2886G>T
c.8335G>T (p.Ala2779Ser)
c.8326G>T (p.Ala2776Ser)
c.8317G>T (p.Ala2773Ser)
c.8203G>T (p.Ala2735Ser)
c.8038G>T (p.Ala2680Ser)
c.6187G>T (p.Ala2063Ser)
c.3877G>T (p.Ala1293Ser)
n.8576G>T
 dbSNP gnomAD v3 gnomAD v4
18g.23928638C>ACA402063711LAMA3c.3482C>A (p.Ala1161Asp)
c.8309C>A (p.Ala2770Asp)
c.4904C>A (p.Ala1635Asp)
c.8141C>A (p.Ala2714Asp)
c.3087C>A
c.3314C>A (p.Ala1105Asp)
c.14C>A (p.Ala5Asp)
n.2887C>A
c.8336C>A (p.Ala2779Asp)
c.8327C>A (p.Ala2776Asp)
c.8318C>A (p.Ala2773Asp)
c.8204C>A (p.Ala2735Asp)
c.8039C>A (p.Ala2680Asp)
c.6188C>A (p.Ala2063Asp)
c.3878C>A (p.Ala1293Asp)
n.8577C>A
18g.23928638C>GCA402063714LAMA3c.3482C>G (p.Ala1161Gly)
c.8309C>G (p.Ala2770Gly)
c.4904C>G (p.Ala1635Gly)
c.8141C>G (p.Ala2714Gly)
c.3087C>G
c.3314C>G (p.Ala1105Gly)
c.14C>G (p.Ala5Gly)
n.2887C>G
c.8336C>G (p.Ala2779Gly)
c.8327C>G (p.Ala2776Gly)
c.8318C>G (p.Ala2773Gly)
c.8204C>G (p.Ala2735Gly)
c.8039C>G (p.Ala2680Gly)
c.6188C>G (p.Ala2063Gly)
c.3878C>G (p.Ala1293Gly)
n.8577C>G
18g.23928638C>TCA402063716LAMA3c.3482C>T (p.Ala1161Val)
c.8309C>T (p.Ala2770Val)
c.4904C>T (p.Ala1635Val)
c.8141C>T (p.Ala2714Val)
c.3087C>T
c.3314C>T (p.Ala1105Val)
c.14C>T (p.Ala5Val)
n.2887C>T
c.8336C>T (p.Ala2779Val)
c.8327C>T (p.Ala2776Val)
c.8318C>T (p.Ala2773Val)
c.8204C>T (p.Ala2735Val)
c.8039C>T (p.Ala2680Val)
c.6188C>T (p.Ala2063Val)
c.3878C>T (p.Ala1293Val)
n.8577C>T
18g.23928639C>ACA503340709LAMA3c.3483C>A (p.Ala1161=)
c.8310C>A (p.Ala2770=)
c.4905C>A (p.Ala1635=)
c.8142C>A (p.Ala2714=)
c.3088C>A
c.3315C>A (p.Ala1105=)
c.15C>A (p.Ala5=)
n.2888C>A
c.8337C>A (p.Ala2779=)
c.8328C>A (p.Ala2776=)
c.8319C>A (p.Ala2773=)
c.8205C>A (p.Ala2735=)
c.8040C>A (p.Ala2680=)
c.6189C>A (p.Ala2063=)
c.3879C>A (p.Ala1293=)
n.8578C>A
18g.23928639C>GCA503340711LAMA3c.3483C>G (p.Ala1161=)
c.8310C>G (p.Ala2770=)
c.4905C>G (p.Ala1635=)
c.8142C>G (p.Ala2714=)
c.3088C>G
c.3315C>G (p.Ala1105=)
c.15C>G (p.Ala5=)
n.2888C>G
c.8337C>G (p.Ala2779=)
c.8328C>G (p.Ala2776=)
c.8319C>G (p.Ala2773=)
c.8205C>G (p.Ala2735=)
c.8040C>G (p.Ala2680=)
c.6189C>G (p.Ala2063=)
c.3879C>G (p.Ala1293=)
n.8578C>G
18g.23928639C>TCA503340710LAMA3c.3483C>T (p.Ala1161=)
c.8310C>T (p.Ala2770=)
c.4905C>T (p.Ala1635=)
c.8142C>T (p.Ala2714=)
c.3088C>T
c.3315C>T (p.Ala1105=)
c.15C>T (p.Ala5=)
n.2888C>T
c.8337C>T (p.Ala2779=)
c.8328C>T (p.Ala2776=)
c.8319C>T (p.Ala2773=)
c.8205C>T (p.Ala2735=)
c.8040C>T (p.Ala2680=)
c.6189C>T (p.Ala2063=)
c.3879C>T (p.Ala1293=)
n.8578C>T
18g.23928640T>ACA402063720LAMA3c.3484T>A (p.Ser1162Thr)
c.8311T>A (p.Ser2771Thr)
c.4906T>A (p.Ser1636Thr)
c.8143T>A (p.Ser2715Thr)
c.3089T>A
c.3316T>A (p.Ser1106Thr)
c.16T>A (p.Ser6Thr)
n.2889T>A
c.8338T>A (p.Ser2780Thr)
c.8329T>A (p.Ser2777Thr)
c.8320T>A (p.Ser2774Thr)
c.8206T>A (p.Ser2736Thr)
c.8041T>A (p.Ser2681Thr)
c.6190T>A (p.Ser2064Thr)
c.3880T>A (p.Ser1294Thr)
n.8579T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23928640T>CCA402063723LAMA3c.3484T>C (p.Ser1162Pro)
c.8311T>C (p.Ser2771Pro)
c.4906T>C (p.Ser1636Pro)
c.8143T>C (p.Ser2715Pro)
c.3089T>C
c.3316T>C (p.Ser1106Pro)
c.16T>C (p.Ser6Pro)
n.2889T>C
c.8338T>C (p.Ser2780Pro)
c.8329T>C (p.Ser2777Pro)
c.8320T>C (p.Ser2774Pro)
c.8206T>C (p.Ser2736Pro)
c.8041T>C (p.Ser2681Pro)
c.6190T>C (p.Ser2064Pro)
c.3880T>C (p.Ser1294Pro)
n.8579T>C
 COSMIC COSMIC
18g.23928640T>GCA402063724LAMA3c.3484T>G (p.Ser1162Ala)
c.8311T>G (p.Ser2771Ala)
c.4906T>G (p.Ser1636Ala)
c.8143T>G (p.Ser2715Ala)
c.3089T>G
c.3316T>G (p.Ser1106Ala)
c.16T>G (p.Ser6Ala)
n.2889T>G
c.8338T>G (p.Ser2780Ala)
c.8329T>G (p.Ser2777Ala)
c.8320T>G (p.Ser2774Ala)
c.8206T>G (p.Ser2736Ala)
c.8041T>G (p.Ser2681Ala)
c.6190T>G (p.Ser2064Ala)
c.3880T>G (p.Ser1294Ala)
n.8579T>G
18g.23928640T=CA2290334823LAMA3c.3484T= (p.Ser1162=)
c.8311T= (p.Ser2771=)
c.4906T= (p.Ser1636=)
c.8143T= (p.Ser2715=)
c.3089T=
c.3316T= (p.Ser1106=)
c.16T= (p.Ser6=)
n.2889T=
c.8338T= (p.Ser2780=)
c.8329T= (p.Ser2777=)
c.8320T= (p.Ser2774=)
c.8206T= (p.Ser2736=)
c.8041T= (p.Ser2681=)
c.6190T= (p.Ser2064=)
c.3880T= (p.Ser1294=)
n.8579T=
18g.23928641C>ACA402063730LAMA3c.3485C>A (p.Ser1162Ter)
c.8312C>A (p.Ser2771Ter)
c.4907C>A (p.Ser1636Ter)
c.8144C>A (p.Ser2715Ter)
c.3090C>A
c.3317C>A (p.Ser1106Ter)
c.17C>A (p.Ser6Ter)
n.2890C>A
c.8339C>A (p.Ser2780Ter)
c.8330C>A (p.Ser2777Ter)
c.8321C>A (p.Ser2774Ter)
c.8207C>A (p.Ser2736Ter)
c.8042C>A (p.Ser2681Ter)
c.6191C>A (p.Ser2064Ter)
c.3881C>A (p.Ser1294Ter)
n.8580C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23928641C=CA2290334824LAMA3c.3485C= (p.Ser1162=)
c.8312C= (p.Ser2771=)
c.4907C= (p.Ser1636=)
c.8144C= (p.Ser2715=)
c.3090C=
c.3317C= (p.Ser1106=)
c.17C= (p.Ser6=)
n.2890C=
c.8339C= (p.Ser2780=)
c.8330C= (p.Ser2777=)
c.8321C= (p.Ser2774=)
c.8207C= (p.Ser2736=)
c.8042C= (p.Ser2681=)
c.6191C= (p.Ser2064=)
c.3881C= (p.Ser1294=)
n.8580C=
18g.23928641C>GCA402063733LAMA3c.3485C>G (p.Ser1162Ter)
c.8312C>G (p.Ser2771Ter)
c.4907C>G (p.Ser1636Ter)
c.8144C>G (p.Ser2715Ter)
c.3090C>G
c.3317C>G (p.Ser1106Ter)
c.17C>G (p.Ser6Ter)
n.2890C>G
c.8339C>G (p.Ser2780Ter)
c.8330C>G (p.Ser2777Ter)
c.8321C>G (p.Ser2774Ter)
c.8207C>G (p.Ser2736Ter)
c.8042C>G (p.Ser2681Ter)
c.6191C>G (p.Ser2064Ter)
c.3881C>G (p.Ser1294Ter)
n.8580C>G
18g.23928641C>TCA402063738LAMA3c.3485C>T (p.Ser1162Leu)
c.8312C>T (p.Ser2771Leu)
c.4907C>T (p.Ser1636Leu)
c.8144C>T (p.Ser2715Leu)
c.3090C>T
c.3317C>T (p.Ser1106Leu)
c.17C>T (p.Ser6Leu)
n.2890C>T
c.8339C>T (p.Ser2780Leu)
c.8330C>T (p.Ser2777Leu)
c.8321C>T (p.Ser2774Leu)
c.8207C>T (p.Ser2736Leu)
c.8042C>T (p.Ser2681Leu)
c.6191C>T (p.Ser2064Leu)
c.3881C>T (p.Ser1294Leu)
n.8580C>T
 gnomAD v4
18g.23928642A=CA2290334825LAMA3c.3486A= (p.Ser1162=)
c.8313A= (p.Ser2771=)
c.4908A= (p.Ser1636=)
c.8145A= (p.Ser2715=)
c.3091A=
c.3318A= (p.Ser1106=)
c.18A= (p.Ser6=)
n.2891A=
c.8340A= (p.Ser2780=)
c.8331A= (p.Ser2777=)
c.8322A= (p.Ser2774=)
c.8208A= (p.Ser2736=)
c.8043A= (p.Ser2681=)
c.6192A= (p.Ser2064=)
c.3882A= (p.Ser1294=)
n.8581A=
18g.23928642A>CCA503340713LAMA3c.3486A>C (p.Ser1162=)
c.8313A>C (p.Ser2771=)
c.4908A>C (p.Ser1636=)
c.8145A>C (p.Ser2715=)
c.3091A>C
c.3318A>C (p.Ser1106=)
c.18A>C (p.Ser6=)
n.2891A>C
c.8340A>C (p.Ser2780=)
c.8331A>C (p.Ser2777=)
c.8322A>C (p.Ser2774=)
c.8208A>C (p.Ser2736=)
c.8043A>C (p.Ser2681=)
c.6192A>C (p.Ser2064=)
c.3882A>C (p.Ser1294=)
n.8581A>C
18g.23928642A>GCA8916900LAMA3c.3486A>G (p.Ser1162=)
c.8313A>G (p.Ser2771=)
c.4908A>G (p.Ser1636=)
c.8145A>G (p.Ser2715=)
c.3091A>G
c.3318A>G (p.Ser1106=)
c.18A>G (p.Ser6=)
n.2891A>G
c.8340A>G (p.Ser2780=)
c.8331A>G (p.Ser2777=)
c.8322A>G (p.Ser2774=)
c.8208A>G (p.Ser2736=)
c.8043A>G (p.Ser2681=)
c.6192A>G (p.Ser2064=)
c.3882A>G (p.Ser1294=)
n.8581A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928642A>TCA503340716LAMA3c.3486A>T (p.Ser1162=)
c.8313A>T (p.Ser2771=)
c.4908A>T (p.Ser1636=)
c.8145A>T (p.Ser2715=)
c.3091A>T
c.3318A>T (p.Ser1106=)
c.18A>T (p.Ser6=)
n.2891A>T
c.8340A>T (p.Ser2780=)
c.8331A>T (p.Ser2777=)
c.8322A>T (p.Ser2774=)
c.8208A>T (p.Ser2736=)
c.8043A>T (p.Ser2681=)
c.6192A>T (p.Ser2064=)
c.3882A>T (p.Ser1294=)
n.8581A>T
18g.23928643T>ACA402063745LAMA3c.3487T>A (p.Phe1163Ile)
c.8314T>A (p.Phe2772Ile)
c.4909T>A (p.Phe1637Ile)
c.8146T>A (p.Phe2716Ile)
c.3092T>A
c.3319T>A (p.Phe1107Ile)
c.19T>A (p.Phe7Ile)
n.2892T>A
c.8341T>A (p.Phe2781Ile)
c.8332T>A (p.Phe2778Ile)
c.8323T>A (p.Phe2775Ile)
c.8209T>A (p.Phe2737Ile)
c.8044T>A (p.Phe2682Ile)
c.6193T>A (p.Phe2065Ile)
c.3883T>A (p.Phe1295Ile)
n.8582T>A
18g.23928643T>CCA402063749LAMA3c.3487T>C (p.Phe1163Leu)
c.8314T>C (p.Phe2772Leu)
c.4909T>C (p.Phe1637Leu)
c.8146T>C (p.Phe2716Leu)
c.3092T>C
c.3319T>C (p.Phe1107Leu)
c.19T>C (p.Phe7Leu)
n.2892T>C
c.8341T>C (p.Phe2781Leu)
c.8332T>C (p.Phe2778Leu)
c.8323T>C (p.Phe2775Leu)
c.8209T>C (p.Phe2737Leu)
c.8044T>C (p.Phe2682Leu)
c.6193T>C (p.Phe2065Leu)
c.3883T>C (p.Phe1295Leu)
n.8582T>C
 dbSNP gnomAD v2 gnomAD v4
18g.23928643T>GCA402063752LAMA3c.3487T>G (p.Phe1163Val)
c.8314T>G (p.Phe2772Val)
c.4909T>G (p.Phe1637Val)
c.8146T>G (p.Phe2716Val)
c.3092T>G
c.3319T>G (p.Phe1107Val)
c.19T>G (p.Phe7Val)
n.2892T>G
c.8341T>G (p.Phe2781Val)
c.8332T>G (p.Phe2778Val)
c.8323T>G (p.Phe2775Val)
c.8209T>G (p.Phe2737Val)
c.8044T>G (p.Phe2682Val)
c.6193T>G (p.Phe2065Val)
c.3883T>G (p.Phe1295Val)
n.8582T>G
18g.23928643T=CA2290334826LAMA3c.3487T= (p.Phe1163=)
c.8314T= (p.Phe2772=)
c.4909T= (p.Phe1637=)
c.8146T= (p.Phe2716=)
c.3092T=
c.3319T= (p.Phe1107=)
c.19T= (p.Phe7=)
n.2892T=
c.8341T= (p.Phe2781=)
c.8332T= (p.Phe2778=)
c.8323T= (p.Phe2775=)
c.8209T= (p.Phe2737=)
c.8044T= (p.Phe2682=)
c.6193T= (p.Phe2065=)
c.3883T= (p.Phe1295=)
n.8582T=
18g.23928644T>ACA402063759LAMA3c.3488T>A (p.Phe1163Tyr)
c.8315T>A (p.Phe2772Tyr)
c.4910T>A (p.Phe1637Tyr)
c.8147T>A (p.Phe2716Tyr)
c.3093T>A
c.3320T>A (p.Phe1107Tyr)
c.20T>A (p.Phe7Tyr)
n.2893T>A
c.8342T>A (p.Phe2781Tyr)
c.8333T>A (p.Phe2778Tyr)
c.8324T>A (p.Phe2775Tyr)
c.8210T>A (p.Phe2737Tyr)
c.8045T>A (p.Phe2682Tyr)
c.6194T>A (p.Phe2065Tyr)
c.3884T>A (p.Phe1295Tyr)
n.8583T>A
18g.23928644T>CCA402063762LAMA3c.3488T>C (p.Phe1163Ser)
c.8315T>C (p.Phe2772Ser)
c.4910T>C (p.Phe1637Ser)
c.8147T>C (p.Phe2716Ser)
c.3093T>C
c.3320T>C (p.Phe1107Ser)
c.20T>C (p.Phe7Ser)
n.2893T>C
c.8342T>C (p.Phe2781Ser)
c.8333T>C (p.Phe2778Ser)
c.8324T>C (p.Phe2775Ser)
c.8210T>C (p.Phe2737Ser)
c.8045T>C (p.Phe2682Ser)
c.6194T>C (p.Phe2065Ser)
c.3884T>C (p.Phe1295Ser)
n.8583T>C
18g.23928644T>GCA402063755LAMA3c.3488T>G (p.Phe1163Cys)
c.8315T>G (p.Phe2772Cys)
c.4910T>G (p.Phe1637Cys)
c.8147T>G (p.Phe2716Cys)
c.3093T>G
c.3320T>G (p.Phe1107Cys)
c.20T>G (p.Phe7Cys)
n.2893T>G
c.8342T>G (p.Phe2781Cys)
c.8333T>G (p.Phe2778Cys)
c.8324T>G (p.Phe2775Cys)
c.8210T>G (p.Phe2737Cys)
c.8045T>G (p.Phe2682Cys)
c.6194T>G (p.Phe2065Cys)
c.3884T>G (p.Phe1295Cys)
n.8583T>G
18g.23928645C>ACA402063768LAMA3c.3489C>A (p.Phe1163Leu)
c.8316C>A (p.Phe2772Leu)
c.4911C>A (p.Phe1637Leu)
c.8148C>A (p.Phe2716Leu)
c.3094C>A
c.3321C>A (p.Phe1107Leu)
c.21C>A (p.Phe7Leu)
n.2894C>A
c.8343C>A (p.Phe2781Leu)
c.8334C>A (p.Phe2778Leu)
c.8325C>A (p.Phe2775Leu)
c.8211C>A (p.Phe2737Leu)
c.8046C>A (p.Phe2682Leu)
c.6195C>A (p.Phe2065Leu)
c.3885C>A (p.Phe1295Leu)
n.8584C>A
 COSMIC COSMIC
18g.23928645C>GCA402063765LAMA3c.3489C>G (p.Phe1163Leu)
c.8316C>G (p.Phe2772Leu)
c.4911C>G (p.Phe1637Leu)
c.8148C>G (p.Phe2716Leu)
c.3094C>G
c.3321C>G (p.Phe1107Leu)
c.21C>G (p.Phe7Leu)
n.2894C>G
c.8343C>G (p.Phe2781Leu)
c.8334C>G (p.Phe2778Leu)
c.8325C>G (p.Phe2775Leu)
c.8211C>G (p.Phe2737Leu)
c.8046C>G (p.Phe2682Leu)
c.6195C>G (p.Phe2065Leu)
c.3885C>G (p.Phe1295Leu)
n.8584C>G
18g.23928645C>TCA503340717LAMA3c.3489C>T (p.Phe1163=)
c.8316C>T (p.Phe2772=)
c.4911C>T (p.Phe1637=)
c.8148C>T (p.Phe2716=)
c.3094C>T
c.3321C>T (p.Phe1107=)
c.21C>T (p.Phe7=)
n.2894C>T
c.8343C>T (p.Phe2781=)
c.8334C>T (p.Phe2778=)
c.8325C>T (p.Phe2775=)
c.8211C>T (p.Phe2737=)
c.8046C>T (p.Phe2682=)
c.6195C>T (p.Phe2065=)
c.3885C>T (p.Phe1295=)
n.8584C>T
18g.23928646T>ACA402063774LAMA3c.3490T>A (p.Ser1164Thr)
c.8317T>A (p.Ser2773Thr)
c.4912T>A (p.Ser1638Thr)
c.8149T>A (p.Ser2717Thr)
c.3095T>A
c.3322T>A (p.Ser1108Thr)
c.22T>A (p.Ser8Thr)
n.2895T>A
c.8344T>A (p.Ser2782Thr)
c.8335T>A (p.Ser2779Thr)
c.8326T>A (p.Ser2776Thr)
c.8212T>A (p.Ser2738Thr)
c.8047T>A (p.Ser2683Thr)
c.6196T>A (p.Ser2066Thr)
c.3886T>A (p.Ser1296Thr)
n.8585T>A
18g.23928646T>CCA8916901LAMA3c.3490T>C (p.Ser1164Pro)
c.8317T>C (p.Ser2773Pro)
c.4912T>C (p.Ser1638Pro)
c.8149T>C (p.Ser2717Pro)
c.3095T>C
c.3322T>C (p.Ser1108Pro)
c.22T>C (p.Ser8Pro)
n.2895T>C
c.8344T>C (p.Ser2782Pro)
c.8335T>C (p.Ser2779Pro)
c.8326T>C (p.Ser2776Pro)
c.8212T>C (p.Ser2738Pro)
c.8047T>C (p.Ser2683Pro)
c.6196T>C (p.Ser2066Pro)
c.3886T>C (p.Ser1296Pro)
n.8585T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23928646T>GCA402063780LAMA3c.3490T>G (p.Ser1164Ala)
c.8317T>G (p.Ser2773Ala)
c.4912T>G (p.Ser1638Ala)
c.8149T>G (p.Ser2717Ala)
c.3095T>G
c.3322T>G (p.Ser1108Ala)
c.22T>G (p.Ser8Ala)
n.2895T>G
c.8344T>G (p.Ser2782Ala)
c.8335T>G (p.Ser2779Ala)
c.8326T>G (p.Ser2776Ala)
c.8212T>G (p.Ser2738Ala)
c.8047T>G (p.Ser2683Ala)
c.6196T>G (p.Ser2066Ala)
c.3886T>G (p.Ser1296Ala)
n.8585T>G
18g.23928646T=CA2290334827LAMA3c.3490T= (p.Ser1164=)
c.8317T= (p.Ser2773=)
c.4912T= (p.Ser1638=)
c.8149T= (p.Ser2717=)
c.3095T=
c.3322T= (p.Ser1108=)
c.22T= (p.Ser8=)
n.2895T=
c.8344T= (p.Ser2782=)
c.8335T= (p.Ser2779=)
c.8326T= (p.Ser2776=)
c.8212T= (p.Ser2738=)
c.8047T= (p.Ser2683=)
c.6196T= (p.Ser2066=)
c.3886T= (p.Ser1296=)
n.8585T=
18g.23928647C>ACA402063789LAMA3c.3491C>A (p.Ser1164Tyr)
c.8318C>A (p.Ser2773Tyr)
c.4913C>A (p.Ser1638Tyr)
c.8150C>A (p.Ser2717Tyr)
c.3096C>A
c.3323C>A (p.Ser1108Tyr)
c.23C>A (p.Ser8Tyr)
n.2896C>A
c.8345C>A (p.Ser2782Tyr)
c.8336C>A (p.Ser2779Tyr)
c.8327C>A (p.Ser2776Tyr)
c.8213C>A (p.Ser2738Tyr)
c.8048C>A (p.Ser2683Tyr)
c.6197C>A (p.Ser2066Tyr)
c.3887C>A (p.Ser1296Tyr)
n.8586C>A
18g.23928647C>GCA402063794LAMA3c.3491C>G (p.Ser1164Cys)
c.8318C>G (p.Ser2773Cys)
c.4913C>G (p.Ser1638Cys)
c.8150C>G (p.Ser2717Cys)
c.3096C>G
c.3323C>G (p.Ser1108Cys)
c.23C>G (p.Ser8Cys)
n.2896C>G
c.8345C>G (p.Ser2782Cys)
c.8336C>G (p.Ser2779Cys)
c.8327C>G (p.Ser2776Cys)
c.8213C>G (p.Ser2738Cys)
c.8048C>G (p.Ser2683Cys)
c.6197C>G (p.Ser2066Cys)
c.3887C>G (p.Ser1296Cys)
n.8586C>G
18g.23928647C>TCA402063792LAMA3c.3491C>T (p.Ser1164Phe)
c.8318C>T (p.Ser2773Phe)
c.4913C>T (p.Ser1638Phe)
c.8150C>T (p.Ser2717Phe)
c.3096C>T
c.3323C>T (p.Ser1108Phe)
c.23C>T (p.Ser8Phe)
n.2896C>T
c.8345C>T (p.Ser2782Phe)
c.8336C>T (p.Ser2779Phe)
c.8327C>T (p.Ser2776Phe)
c.8213C>T (p.Ser2738Phe)
c.8048C>T (p.Ser2683Phe)
c.6197C>T (p.Ser2066Phe)
c.3887C>T (p.Ser1296Phe)
n.8586C>T
 COSMIC COSMIC
18g.23928648C>ACA503340722LAMA3c.3492C>A (p.Ser1164=)
c.8319C>A (p.Ser2773=)
c.4914C>A (p.Ser1638=)
c.8151C>A (p.Ser2717=)
c.3097C>A
c.3324C>A (p.Ser1108=)
c.24C>A (p.Ser8=)
n.2897C>A
c.8346C>A (p.Ser2782=)
c.8337C>A (p.Ser2779=)
c.8328C>A (p.Ser2776=)
c.8214C>A (p.Ser2738=)
c.8049C>A (p.Ser2683=)
c.6198C>A (p.Ser2066=)
c.3888C>A (p.Ser1296=)
n.8587C>A
18g.23928648C>GCA503340720LAMA3c.3492C>G (p.Ser1164=)
c.8319C>G (p.Ser2773=)
c.4914C>G (p.Ser1638=)
c.8151C>G (p.Ser2717=)
c.3097C>G
c.3324C>G (p.Ser1108=)
c.24C>G (p.Ser8=)
n.2897C>G
c.8346C>G (p.Ser2782=)
c.8337C>G (p.Ser2779=)
c.8328C>G (p.Ser2776=)
c.8214C>G (p.Ser2738=)
c.8049C>G (p.Ser2683=)
c.6198C>G (p.Ser2066=)
c.3888C>G (p.Ser1296=)
n.8587C>G
18g.23928648C>TCA503340721LAMA3c.3492C>T (p.Ser1164=)
c.8319C>T (p.Ser2773=)
c.4914C>T (p.Ser1638=)
c.8151C>T (p.Ser2717=)
c.3097C>T
c.3324C>T (p.Ser1108=)
c.24C>T (p.Ser8=)
n.2897C>T
c.8346C>T (p.Ser2782=)
c.8337C>T (p.Ser2779=)
c.8328C>T (p.Ser2776=)
c.8214C>T (p.Ser2738=)
c.8049C>T (p.Ser2683=)
c.6198C>T (p.Ser2066=)
c.3888C>T (p.Ser1296=)
n.8587C>T
 gnomAD v4
18g.23928649A=CA2290334828LAMA3c.3493A= (p.Arg1165=)
c.8320A= (p.Arg2774=)
c.4915A= (p.Arg1639=)
c.8152A= (p.Arg2718=)
c.3098A=
c.3325A= (p.Arg1109=)
c.25A= (p.Arg9=)
n.2898A=
c.8347A= (p.Arg2783=)
c.8338A= (p.Arg2780=)
c.8329A= (p.Arg2777=)
c.8215A= (p.Arg2739=)
c.8050A= (p.Arg2684=)
c.6199A= (p.Arg2067=)
c.3889A= (p.Arg1297=)
n.8588A=
18g.23928649A>CCA503340723LAMA3c.3493A>C (p.Arg1165=)
c.8320A>C (p.Arg2774=)
c.4915A>C (p.Arg1639=)
c.8152A>C (p.Arg2718=)
c.3098A>C
c.3325A>C (p.Arg1109=)
c.25A>C (p.Arg9=)
n.2898A>C
c.8347A>C (p.Arg2783=)
c.8338A>C (p.Arg2780=)
c.8329A>C (p.Arg2777=)
c.8215A>C (p.Arg2739=)
c.8050A>C (p.Arg2684=)
c.6199A>C (p.Arg2067=)
c.3889A>C (p.Arg1297=)
n.8588A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23928649A>GCA402063798LAMA3c.3493A>G (p.Arg1165Gly)
c.8320A>G (p.Arg2774Gly)
c.4915A>G (p.Arg1639Gly)
c.8152A>G (p.Arg2718Gly)
c.3098A>G
c.3325A>G (p.Arg1109Gly)
c.25A>G (p.Arg9Gly)
n.2898A>G
c.8347A>G (p.Arg2783Gly)
c.8338A>G (p.Arg2780Gly)
c.8329A>G (p.Arg2777Gly)
c.8215A>G (p.Arg2739Gly)
c.8050A>G (p.Arg2684Gly)
c.6199A>G (p.Arg2067Gly)
c.3889A>G (p.Arg1297Gly)
n.8588A>G
 dbSNP gnomAD v4
18g.23928649A>TCA402063804LAMA3c.3493A>T (p.Arg1165Ter)
c.8320A>T (p.Arg2774Ter)
c.4915A>T (p.Arg1639Ter)
c.8152A>T (p.Arg2718Ter)
c.3098A>T
c.3325A>T (p.Arg1109Ter)
c.25A>T (p.Arg9Ter)
n.2898A>T
c.8347A>T (p.Arg2783Ter)
c.8338A>T (p.Arg2780Ter)
c.8329A>T (p.Arg2777Ter)
c.8215A>T (p.Arg2739Ter)
c.8050A>T (p.Arg2684Ter)
c.6199A>T (p.Arg2067Ter)
c.3889A>T (p.Arg1297Ter)
n.8588A>T
18g.23928650G>ACA402063807LAMA3c.3494G>A (p.Arg1165Lys)
c.8321G>A (p.Arg2774Lys)
c.4916G>A (p.Arg1639Lys)
c.8153G>A (p.Arg2718Lys)
c.3099G>A
c.3326G>A (p.Arg1109Lys)
c.26G>A (p.Arg9Lys)
n.2899G>A
c.8348G>A (p.Arg2783Lys)
c.8339G>A (p.Arg2780Lys)
c.8330G>A (p.Arg2777Lys)
c.8216G>A (p.Arg2739Lys)
c.8051G>A (p.Arg2684Lys)
c.6200G>A (p.Arg2067Lys)
c.3890G>A (p.Arg1297Lys)
n.8589G>A
 gnomAD v4
18g.23928650G>CCA402063810LAMA3c.3494G>C (p.Arg1165Thr)
c.8321G>C (p.Arg2774Thr)
c.4916G>C (p.Arg1639Thr)
c.8153G>C (p.Arg2718Thr)
c.3099G>C
c.3326G>C (p.Arg1109Thr)
c.26G>C (p.Arg9Thr)
n.2899G>C
c.8348G>C (p.Arg2783Thr)
c.8339G>C (p.Arg2780Thr)
c.8330G>C (p.Arg2777Thr)
c.8216G>C (p.Arg2739Thr)
c.8051G>C (p.Arg2684Thr)
c.6200G>C (p.Arg2067Thr)
c.3890G>C (p.Arg1297Thr)
n.8589G>C
18g.23928650G>TCA402063813LAMA3c.3494G>T (p.Arg1165Ile)
c.8321G>T (p.Arg2774Ile)
c.4916G>T (p.Arg1639Ile)
c.8153G>T (p.Arg2718Ile)
c.3099G>T
c.3326G>T (p.Arg1109Ile)
c.26G>T (p.Arg9Ile)
n.2899G>T
c.8348G>T (p.Arg2783Ile)
c.8339G>T (p.Arg2780Ile)
c.8330G>T (p.Arg2777Ile)
c.8216G>T (p.Arg2739Ile)
c.8051G>T (p.Arg2684Ile)
c.6200G>T (p.Arg2067Ile)
c.3890G>T (p.Arg1297Ile)
n.8589G>T
18g.23928655_23928657delCA2641297694LAMA3c.3499_3501del (p.Gly1167del)
c.8326_8328del (p.Gly2776del)
c.4921_4923del (p.Gly1641del)
c.8158_8160del (p.Gly2720del)
c.3104_3106del
c.3331_3333del (p.Gly1111del)
c.31_33del (p.Gly11del)
n.2904_2906del
c.8353_8355del (p.Gly2785del)
c.8344_8346del (p.Gly2782del)
c.8335_8337del (p.Gly2779del)
c.8221_8223del (p.Gly2741del)
c.8056_8058del (p.Gly2686del)
c.6205_6207del (p.Gly2069del)
c.3895_3897del (p.Gly1299del)
n.8594_8596del
 gnomAD v4
18g.23928651A>CCA402063816LAMA3c.3495A>C (p.Arg1165Ser)
c.8322A>C (p.Arg2774Ser)
c.4917A>C (p.Arg1639Ser)
c.8154A>C (p.Arg2718Ser)
c.3100A>C
c.3327A>C (p.Arg1109Ser)
c.27A>C (p.Arg9Ser)
n.2900A>C
c.8349A>C (p.Arg2783Ser)
c.8340A>C (p.Arg2780Ser)
c.8331A>C (p.Arg2777Ser)
c.8217A>C (p.Arg2739Ser)
c.8052A>C (p.Arg2684Ser)
c.6201A>C (p.Arg2067Ser)
c.3891A>C (p.Arg1297Ser)
n.8590A>C
18g.23928651A>GCA503340724LAMA3c.3495A>G (p.Arg1165=)
c.8322A>G (p.Arg2774=)
c.4917A>G (p.Arg1639=)
c.8154A>G (p.Arg2718=)
c.3100A>G
c.3327A>G (p.Arg1109=)
c.27A>G (p.Arg9=)
n.2900A>G
c.8349A>G (p.Arg2783=)
c.8340A>G (p.Arg2780=)
c.8331A>G (p.Arg2777=)
c.8217A>G (p.Arg2739=)
c.8052A>G (p.Arg2684=)
c.6201A>G (p.Arg2067=)
c.3891A>G (p.Arg1297=)
n.8590A>G
18g.23928651A>TCA402063820LAMA3c.3495A>T (p.Arg1165Ser)
c.8322A>T (p.Arg2774Ser)
c.4917A>T (p.Arg1639Ser)
c.8154A>T (p.Arg2718Ser)
c.3100A>T
c.3327A>T (p.Arg1109Ser)
c.27A>T (p.Arg9Ser)
n.2900A>T
c.8349A>T (p.Arg2783Ser)
c.8340A>T (p.Arg2780Ser)
c.8331A>T (p.Arg2777Ser)
c.8217A>T (p.Arg2739Ser)
c.8052A>T (p.Arg2684Ser)
c.6201A>T (p.Arg2067Ser)
c.3891A>T (p.Arg1297Ser)
n.8590A>T
 gnomAD v4
18g.23928652G>ACA402063823LAMA3c.3496G>A (p.Gly1166Arg)
c.8323G>A (p.Gly2775Arg)
c.4918G>A (p.Gly1640Arg)
c.8155G>A (p.Gly2719Arg)
c.3101G>A
c.3328G>A (p.Gly1110Arg)
c.28G>A (p.Gly10Arg)
n.2901G>A
c.8350G>A (p.Gly2784Arg)
c.8341G>A (p.Gly2781Arg)
c.8332G>A (p.Gly2778Arg)
c.8218G>A (p.Gly2740Arg)
c.8053G>A (p.Gly2685Arg)
c.6202G>A (p.Gly2068Arg)
c.3892G>A (p.Gly1298Arg)
n.8591G>A
 gnomAD v4
18g.23928652G>CCA402063826LAMA3c.3496G>C (p.Gly1166Arg)
c.8323G>C (p.Gly2775Arg)
c.4918G>C (p.Gly1640Arg)
c.8155G>C (p.Gly2719Arg)
c.3101G>C
c.3328G>C (p.Gly1110Arg)
c.28G>C (p.Gly10Arg)
n.2901G>C
c.8350G>C (p.Gly2784Arg)
c.8341G>C (p.Gly2781Arg)
c.8332G>C (p.Gly2778Arg)
c.8218G>C (p.Gly2740Arg)
c.8053G>C (p.Gly2685Arg)
c.6202G>C (p.Gly2068Arg)
c.3892G>C (p.Gly1298Arg)
n.8591G>C
18g.23928652G>TCA402063829LAMA3c.3496G>T (p.Gly1166Ter)
c.8323G>T (p.Gly2775Ter)
c.4918G>T (p.Gly1640Ter)
c.8155G>T (p.Gly2719Ter)
c.3101G>T
c.3328G>T (p.Gly1110Ter)
c.28G>T (p.Gly10Ter)
n.2901G>T
c.8350G>T (p.Gly2784Ter)
c.8341G>T (p.Gly2781Ter)
c.8332G>T (p.Gly2778Ter)
c.8218G>T (p.Gly2740Ter)
c.8053G>T (p.Gly2685Ter)
c.6202G>T (p.Gly2068Ter)
c.3892G>T (p.Gly1298Ter)
n.8591G>T
18g.23928653G>ACA402063833LAMA3c.3497G>A (p.Gly1166Glu)
c.8324G>A (p.Gly2775Glu)
c.4919G>A (p.Gly1640Glu)
c.8156G>A (p.Gly2719Glu)
c.3102G>A
c.3329G>A (p.Gly1110Glu)
c.29G>A (p.Gly10Glu)
n.2902G>A
c.8351G>A (p.Gly2784Glu)
c.8342G>A (p.Gly2781Glu)
c.8333G>A (p.Gly2778Glu)
c.8219G>A (p.Gly2740Glu)
c.8054G>A (p.Gly2685Glu)
c.6203G>A (p.Gly2068Glu)
c.3893G>A (p.Gly1298Glu)
n.8592G>A
18g.23928653G>CCA402063836LAMA3c.3497G>C (p.Gly1166Ala)
c.8324G>C (p.Gly2775Ala)
c.4919G>C (p.Gly1640Ala)
c.8156G>C (p.Gly2719Ala)
c.3102G>C
c.3329G>C (p.Gly1110Ala)
c.29G>C (p.Gly10Ala)
n.2902G>C
c.8351G>C (p.Gly2784Ala)
c.8342G>C (p.Gly2781Ala)
c.8333G>C (p.Gly2778Ala)
c.8219G>C (p.Gly2740Ala)
c.8054G>C (p.Gly2685Ala)
c.6203G>C (p.Gly2068Ala)
c.3893G>C (p.Gly1298Ala)
n.8592G>C
18g.23928653G>TCA402063839LAMA3c.3497G>T (p.Gly1166Val)
c.8324G>T (p.Gly2775Val)
c.4919G>T (p.Gly1640Val)
c.8156G>T (p.Gly2719Val)
c.3102G>T
c.3329G>T (p.Gly1110Val)
c.29G>T (p.Gly10Val)
n.2902G>T
c.8351G>T (p.Gly2784Val)
c.8342G>T (p.Gly2781Val)
c.8333G>T (p.Gly2778Val)
c.8219G>T (p.Gly2740Val)
c.8054G>T (p.Gly2685Val)
c.6203G>T (p.Gly2068Val)
c.3893G>T (p.Gly1298Val)
n.8592G>T
18g.23928654A>CCA503340728LAMA3c.3498A>C (p.Gly1166=)
c.8325A>C (p.Gly2775=)
c.4920A>C (p.Gly1640=)
c.8157A>C (p.Gly2719=)
c.3103A>C
c.3330A>C (p.Gly1110=)
c.30A>C (p.Gly10=)
n.2903A>C
c.8352A>C (p.Gly2784=)
c.8343A>C (p.Gly2781=)
c.8334A>C (p.Gly2778=)
c.8220A>C (p.Gly2740=)
c.8055A>C (p.Gly2685=)
c.6204A>C (p.Gly2068=)
c.3894A>C (p.Gly1298=)
n.8593A>C
 COSMIC COSMIC
18g.23928654A>GCA503340726LAMA3c.3498A>G (p.Gly1166=)
c.8325A>G (p.Gly2775=)
c.4920A>G (p.Gly1640=)
c.8157A>G (p.Gly2719=)
c.3103A>G
c.3330A>G (p.Gly1110=)
c.30A>G (p.Gly10=)
n.2903A>G
c.8352A>G (p.Gly2784=)
c.8343A>G (p.Gly2781=)
c.8334A>G (p.Gly2778=)
c.8220A>G (p.Gly2740=)
c.8055A>G (p.Gly2685=)
c.6204A>G (p.Gly2068=)
c.3894A>G (p.Gly1298=)
n.8593A>G
18g.23928654A>TCA503340727LAMA3c.3498A>T (p.Gly1166=)
c.8325A>T (p.Gly2775=)
c.4920A>T (p.Gly1640=)
c.8157A>T (p.Gly2719=)
c.3103A>T
c.3330A>T (p.Gly1110=)
c.30A>T (p.Gly10=)
n.2903A>T
c.8352A>T (p.Gly2784=)
c.8343A>T (p.Gly2781=)
c.8334A>T (p.Gly2778=)
c.8220A>T (p.Gly2740=)
c.8055A>T (p.Gly2685=)
c.6204A>T (p.Gly2068=)
c.3894A>T (p.Gly1298=)
n.8593A>T
18g.23928655G>ACA402063846LAMA3c.3499G>A (p.Gly1167Arg)
c.8326G>A (p.Gly2776Arg)
c.4921G>A (p.Gly1641Arg)
c.8158G>A (p.Gly2720Arg)
c.3104G>A
c.3331G>A (p.Gly1111Arg)
c.31G>A (p.Gly11Arg)
n.2904G>A
c.8353G>A (p.Gly2785Arg)
c.8344G>A (p.Gly2782Arg)
c.8335G>A (p.Gly2779Arg)
c.8221G>A (p.Gly2741Arg)
c.8056G>A (p.Gly2686Arg)
c.6205G>A (p.Gly2069Arg)
c.3895G>A (p.Gly1299Arg)
n.8594G>A
18g.23928655G>CCA402063844LAMA3c.3499G>C (p.Gly1167Arg)
c.8326G>C (p.Gly2776Arg)
c.4921G>C (p.Gly1641Arg)
c.8158G>C (p.Gly2720Arg)
c.3104G>C
c.3331G>C (p.Gly1111Arg)
c.31G>C (p.Gly11Arg)
n.2904G>C
c.8353G>C (p.Gly2785Arg)
c.8344G>C (p.Gly2782Arg)
c.8335G>C (p.Gly2779Arg)
c.8221G>C (p.Gly2741Arg)
c.8056G>C (p.Gly2686Arg)
c.6205G>C (p.Gly2069Arg)
c.3895G>C (p.Gly1299Arg)
n.8594G>C
18g.23928655G>TCA402063842LAMA3c.3499G>T (p.Gly1167Ter)
c.8326G>T (p.Gly2776Ter)
c.4921G>T (p.Gly1641Ter)
c.8158G>T (p.Gly2720Ter)
c.3104G>T
c.3331G>T (p.Gly1111Ter)
c.31G>T (p.Gly11Ter)
n.2904G>T
c.8353G>T (p.Gly2785Ter)
c.8344G>T (p.Gly2782Ter)
c.8335G>T (p.Gly2779Ter)
c.8221G>T (p.Gly2741Ter)
c.8056G>T (p.Gly2686Ter)
c.6205G>T (p.Gly2069Ter)
c.3895G>T (p.Gly1299Ter)
n.8594G>T
18g.23928656G>ACA10647334LAMA3c.3500G>A (p.Gly1167Glu)
c.8327G>A (p.Gly2776Glu)
c.4922G>A (p.Gly1641Glu)
c.8159G>A (p.Gly2720Glu)
c.3105G>A
c.3332G>A (p.Gly1111Glu)
c.32G>A (p.Gly11Glu)
n.2905G>A
c.8354G>A (p.Gly2785Glu)
c.8345G>A (p.Gly2782Glu)
c.8336G>A (p.Gly2779Glu)
c.8222G>A (p.Gly2741Glu)
c.8057G>A (p.Gly2686Glu)
c.6206G>A (p.Gly2069Glu)
c.3896G>A (p.Gly1299Glu)
n.8595G>A
 ClinVar dbSNP gnomAD v4
18g.23928656G>CCA402063849LAMA3c.3500G>C (p.Gly1167Ala)
c.8327G>C (p.Gly2776Ala)
c.4922G>C (p.Gly1641Ala)
c.8159G>C (p.Gly2720Ala)
c.3105G>C
c.3332G>C (p.Gly1111Ala)
c.32G>C (p.Gly11Ala)
n.2905G>C
c.8354G>C (p.Gly2785Ala)
c.8345G>C (p.Gly2782Ala)
c.8336G>C (p.Gly2779Ala)
c.8222G>C (p.Gly2741Ala)
c.8057G>C (p.Gly2686Ala)
c.6206G>C (p.Gly2069Ala)
c.3896G>C (p.Gly1299Ala)
n.8595G>C
18g.23928656G=CA2290334829LAMA3c.3500G= (p.Gly1167=)
c.8327G= (p.Gly2776=)
c.4922G= (p.Gly1641=)
c.8159G= (p.Gly2720=)
c.3105G=
c.3332G= (p.Gly1111=)
c.32G= (p.Gly11=)
n.2905G=
c.8354G= (p.Gly2785=)
c.8345G= (p.Gly2782=)
c.8336G= (p.Gly2779=)
c.8222G= (p.Gly2741=)
c.8057G= (p.Gly2686=)
c.6206G= (p.Gly2069=)
c.3896G= (p.Gly1299=)
n.8595G=
18g.23928656G>TCA402063850LAMA3c.3500G>T (p.Gly1167Val)
c.8327G>T (p.Gly2776Val)
c.4922G>T (p.Gly1641Val)
c.8159G>T (p.Gly2720Val)
c.3105G>T
c.3332G>T (p.Gly1111Val)
c.32G>T (p.Gly11Val)
n.2905G>T
c.8354G>T (p.Gly2785Val)
c.8345G>T (p.Gly2782Val)
c.8336G>T (p.Gly2779Val)
c.8222G>T (p.Gly2741Val)
c.8057G>T (p.Gly2686Val)
c.6206G>T (p.Gly2069Val)
c.3896G>T (p.Gly1299Val)
n.8595G>T
18g.23928657A=CA2290334830LAMA3c.3501A= (p.Gly1167=)
c.8328A= (p.Gly2776=)
c.4923A= (p.Gly1641=)
c.8160A= (p.Gly2720=)
c.3106A=
c.3333A= (p.Gly1111=)
c.33A= (p.Gly11=)
n.2906A=
c.8355A= (p.Gly2785=)
c.8346A= (p.Gly2782=)
c.8337A= (p.Gly2779=)
c.8223A= (p.Gly2741=)
c.8058A= (p.Gly2686=)
c.6207A= (p.Gly2069=)
c.3897A= (p.Gly1299=)
n.8596A=
18g.23928657A>CCA503340729LAMA3c.3501A>C (p.Gly1167=)
c.8328A>C (p.Gly2776=)
c.4923A>C (p.Gly1641=)
c.8160A>C (p.Gly2720=)
c.3106A>C
c.3333A>C (p.Gly1111=)
c.33A>C (p.Gly11=)
n.2906A>C
c.8355A>C (p.Gly2785=)
c.8346A>C (p.Gly2782=)
c.8337A>C (p.Gly2779=)
c.8223A>C (p.Gly2741=)
c.8058A>C (p.Gly2686=)
c.6207A>C (p.Gly2069=)
c.3897A>C (p.Gly1299=)
n.8596A>C
18g.23928657A>GCA503340730LAMA3c.3501A>G (p.Gly1167=)
c.8328A>G (p.Gly2776=)
c.4923A>G (p.Gly1641=)
c.8160A>G (p.Gly2720=)
c.3106A>G
c.3333A>G (p.Gly1111=)
c.33A>G (p.Gly11=)
n.2906A>G
c.8355A>G (p.Gly2785=)
c.8346A>G (p.Gly2782=)
c.8337A>G (p.Gly2779=)
c.8223A>G (p.Gly2741=)
c.8058A>G (p.Gly2686=)
c.6207A>G (p.Gly2069=)
c.3897A>G (p.Gly1299=)
n.8596A>G
18g.23928657A>TCA8916902LAMA3c.3501A>T (p.Gly1167=)
c.8328A>T (p.Gly2776=)
c.4923A>T (p.Gly1641=)
c.8160A>T (p.Gly2720=)
c.3106A>T
c.3333A>T (p.Gly1111=)
c.33A>T (p.Gly11=)
n.2906A>T
c.8355A>T (p.Gly2785=)
c.8346A>T (p.Gly2782=)
c.8337A>T (p.Gly2779=)
c.8223A>T (p.Gly2741=)
c.8058A>T (p.Gly2686=)
c.6207A>T (p.Gly2069=)
c.3897A>T (p.Gly1299=)
n.8596A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928658C>ACA402063852LAMA3c.3502C>A (p.Gln1168Lys)
c.8329C>A (p.Gln2777Lys)
c.4924C>A (p.Gln1642Lys)
c.8161C>A (p.Gln2721Lys)
c.3107C>A
c.3334C>A (p.Gln1112Lys)
c.34C>A (p.Gln12Lys)
n.2907C>A
c.8356C>A (p.Gln2786Lys)
c.8347C>A (p.Gln2783Lys)
c.8338C>A (p.Gln2780Lys)
c.8224C>A (p.Gln2742Lys)
c.8059C>A (p.Gln2687Lys)
c.6208C>A (p.Gln2070Lys)
c.3898C>A (p.Gln1300Lys)
n.8597C>A
18g.23928658C=CA2290334831LAMA3c.3502C= (p.Gln1168=)
c.8329C= (p.Gln2777=)
c.4924C= (p.Gln1642=)
c.8161C= (p.Gln2721=)
c.3107C=
c.3334C= (p.Gln1112=)
c.34C= (p.Gln12=)
n.2907C=
c.8356C= (p.Gln2786=)
c.8347C= (p.Gln2783=)
c.8338C= (p.Gln2780=)
c.8224C= (p.Gln2742=)
c.8059C= (p.Gln2687=)
c.6208C= (p.Gln2070=)
c.3898C= (p.Gln1300=)
n.8597C=
18g.23928658C>GCA402063854LAMA3c.3502C>G (p.Gln1168Glu)
c.8329C>G (p.Gln2777Glu)
c.4924C>G (p.Gln1642Glu)
c.8161C>G (p.Gln2721Glu)
c.3107C>G
c.3334C>G (p.Gln1112Glu)
c.34C>G (p.Gln12Glu)
n.2907C>G
c.8356C>G (p.Gln2786Glu)
c.8347C>G (p.Gln2783Glu)
c.8338C>G (p.Gln2780Glu)
c.8224C>G (p.Gln2742Glu)
c.8059C>G (p.Gln2687Glu)
c.6208C>G (p.Gln2070Glu)
c.3898C>G (p.Gln1300Glu)
n.8597C>G
 dbSNP
18g.23928658C>TCA402063856LAMA3c.3502C>T (p.Gln1168Ter)
c.8329C>T (p.Gln2777Ter)
c.4924C>T (p.Gln1642Ter)
c.8161C>T (p.Gln2721Ter)
c.3107C>T
c.3334C>T (p.Gln1112Ter)
c.34C>T (p.Gln12Ter)
n.2907C>T
c.8356C>T (p.Gln2786Ter)
c.8347C>T (p.Gln2783Ter)
c.8338C>T (p.Gln2780Ter)
c.8224C>T (p.Gln2742Ter)
c.8059C>T (p.Gln2687Ter)
c.6208C>T (p.Gln2070Ter)
c.3898C>T (p.Gln1300Ter)
n.8597C>T
18g.23928659A>CCA402063858LAMA3c.3503A>C (p.Gln1168Pro)
c.8330A>C (p.Gln2777Pro)
c.4925A>C (p.Gln1642Pro)
c.8162A>C (p.Gln2721Pro)
c.3108A>C
c.3335A>C (p.Gln1112Pro)
c.35A>C (p.Gln12Pro)
n.2908A>C
c.8357A>C (p.Gln2786Pro)
c.8348A>C (p.Gln2783Pro)
c.8339A>C (p.Gln2780Pro)
c.8225A>C (p.Gln2742Pro)
c.8060A>C (p.Gln2687Pro)
c.6209A>C (p.Gln2070Pro)
c.3899A>C (p.Gln1300Pro)
n.8598A>C
18g.23928659A>GCA402063860LAMA3c.3503A>G (p.Gln1168Arg)
c.8330A>G (p.Gln2777Arg)
c.4925A>G (p.Gln1642Arg)
c.8162A>G (p.Gln2721Arg)
c.3108A>G
c.3335A>G (p.Gln1112Arg)
c.35A>G (p.Gln12Arg)
n.2908A>G
c.8357A>G (p.Gln2786Arg)
c.8348A>G (p.Gln2783Arg)
c.8339A>G (p.Gln2780Arg)
c.8225A>G (p.Gln2742Arg)
c.8060A>G (p.Gln2687Arg)
c.6209A>G (p.Gln2070Arg)
c.3899A>G (p.Gln1300Arg)
n.8598A>G
18g.23928659A>TCA402063862LAMA3c.3503A>T (p.Gln1168Leu)
c.8330A>T (p.Gln2777Leu)
c.4925A>T (p.Gln1642Leu)
c.8162A>T (p.Gln2721Leu)
c.3108A>T
c.3335A>T (p.Gln1112Leu)
c.35A>T (p.Gln12Leu)
n.2908A>T
c.8357A>T (p.Gln2786Leu)
c.8348A>T (p.Gln2783Leu)
c.8339A>T (p.Gln2780Leu)
c.8225A>T (p.Gln2742Leu)
c.8060A>T (p.Gln2687Leu)
c.6209A>T (p.Gln2070Leu)
c.3899A>T (p.Gln1300Leu)
n.8598A>T
18g.23928660A>CCA402063863LAMA3c.3504A>C (p.Gln1168His)
c.8331A>C (p.Gln2777His)
c.4926A>C (p.Gln1642His)
c.8163A>C (p.Gln2721His)
c.3109A>C
c.3336A>C (p.Gln1112His)
c.36A>C (p.Gln12His)
n.2909A>C
c.8358A>C (p.Gln2786His)
c.8349A>C (p.Gln2783His)
c.8340A>C (p.Gln2780His)
c.8226A>C (p.Gln2742His)
c.8061A>C (p.Gln2687His)
c.6210A>C (p.Gln2070His)
c.3900A>C (p.Gln1300His)
n.8599A>C
18g.23928660A>GCA503340734LAMA3c.3504A>G (p.Gln1168=)
c.8331A>G (p.Gln2777=)
c.4926A>G (p.Gln1642=)
c.8163A>G (p.Gln2721=)
c.3109A>G
c.3336A>G (p.Gln1112=)
c.36A>G (p.Gln12=)
n.2909A>G
c.8358A>G (p.Gln2786=)
c.8349A>G (p.Gln2783=)
c.8340A>G (p.Gln2780=)
c.8226A>G (p.Gln2742=)
c.8061A>G (p.Gln2687=)
c.6210A>G (p.Gln2070=)
c.3900A>G (p.Gln1300=)
n.8599A>G
 ClinVar dbSNP
18g.23928660A>TCA402063865LAMA3c.3504A>T (p.Gln1168His)
c.8331A>T (p.Gln2777His)
c.4926A>T (p.Gln1642His)
c.8163A>T (p.Gln2721His)
c.3109A>T
c.3336A>T (p.Gln1112His)
c.36A>T (p.Gln12His)
n.2909A>T
c.8358A>T (p.Gln2786His)
c.8349A>T (p.Gln2783His)
c.8340A>T (p.Gln2780His)
c.8226A>T (p.Gln2742His)
c.8061A>T (p.Gln2687His)
c.6210A>T (p.Gln2070His)
c.3900A>T (p.Gln1300His)
n.8599A>T
18g.23928661T>ACA402063872LAMA3c.3505T>A (p.Leu1169Met)
c.8332T>A (p.Leu2778Met)
c.4927T>A (p.Leu1643Met)
c.8164T>A (p.Leu2722Met)
c.3110T>A
c.3337T>A (p.Leu1113Met)
c.37T>A (p.Leu13Met)
n.2910T>A
c.8359T>A (p.Leu2787Met)
c.8350T>A (p.Leu2784Met)
c.8341T>A (p.Leu2781Met)
c.8227T>A (p.Leu2743Met)
c.8062T>A (p.Leu2688Met)
c.6211T>A (p.Leu2071Met)
c.3901T>A (p.Leu1301Met)
n.8600T>A
18g.23928661T>CCA8916903LAMA3c.3505T>C (p.Leu1169=)
c.8332T>C (p.Leu2778=)
c.4927T>C (p.Leu1643=)
c.8164T>C (p.Leu2722=)
c.3110T>C
c.3337T>C (p.Leu1113=)
c.37T>C (p.Leu13=)
n.2910T>C
c.8359T>C (p.Leu2787=)
c.8350T>C (p.Leu2784=)
c.8341T>C (p.Leu2781=)
c.8227T>C (p.Leu2743=)
c.8062T>C (p.Leu2688=)
c.6211T>C (p.Leu2071=)
c.3901T>C (p.Leu1301=)
n.8600T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23928661T>GCA402063868LAMA3c.3505T>G (p.Leu1169Val)
c.8332T>G (p.Leu2778Val)
c.4927T>G (p.Leu1643Val)
c.8164T>G (p.Leu2722Val)
c.3110T>G
c.3337T>G (p.Leu1113Val)
c.37T>G (p.Leu13Val)
n.2910T>G
c.8359T>G (p.Leu2787Val)
c.8350T>G (p.Leu2784Val)
c.8341T>G (p.Leu2781Val)
c.8227T>G (p.Leu2743Val)
c.8062T>G (p.Leu2688Val)
c.6211T>G (p.Leu2071Val)
c.3901T>G (p.Leu1301Val)
n.8600T>G
18g.23928661T=CA2290334832LAMA3c.3505T= (p.Leu1169=)
c.8332T= (p.Leu2778=)
c.4927T= (p.Leu1643=)
c.8164T= (p.Leu2722=)
c.3110T=
c.3337T= (p.Leu1113=)
c.37T= (p.Leu13=)
n.2910T=
c.8359T= (p.Leu2787=)
c.8350T= (p.Leu2784=)
c.8341T= (p.Leu2781=)
c.8227T= (p.Leu2743=)
c.8062T= (p.Leu2688=)
c.6211T= (p.Leu2071=)
c.3901T= (p.Leu1301=)
n.8600T=
18g.23928662T>ACA402063874LAMA3c.3506T>A (p.Leu1169Ter)
c.8333T>A (p.Leu2778Ter)
c.4928T>A (p.Leu1643Ter)
c.8165T>A (p.Leu2722Ter)
c.3111T>A
c.3338T>A (p.Leu1113Ter)
c.38T>A (p.Leu13Ter)
n.2911T>A
c.8360T>A (p.Leu2787Ter)
c.8351T>A (p.Leu2784Ter)
c.8342T>A (p.Leu2781Ter)
c.8228T>A (p.Leu2743Ter)
c.8063T>A (p.Leu2688Ter)
c.6212T>A (p.Leu2071Ter)
c.3902T>A (p.Leu1301Ter)
n.8601T>A
18g.23928662T>CCA402063875LAMA3c.3506T>C (p.Leu1169Ser)
c.8333T>C (p.Leu2778Ser)
c.4928T>C (p.Leu1643Ser)
c.8165T>C (p.Leu2722Ser)
c.3111T>C
c.3338T>C (p.Leu1113Ser)
c.38T>C (p.Leu13Ser)
n.2911T>C
c.8360T>C (p.Leu2787Ser)
c.8351T>C (p.Leu2784Ser)
c.8342T>C (p.Leu2781Ser)
c.8228T>C (p.Leu2743Ser)
c.8063T>C (p.Leu2688Ser)
c.6212T>C (p.Leu2071Ser)
c.3902T>C (p.Leu1301Ser)
n.8601T>C
 COSMIC COSMIC
18g.23928662T>GCA402063877LAMA3c.3506T>G (p.Leu1169Trp)
c.8333T>G (p.Leu2778Trp)
c.4928T>G (p.Leu1643Trp)
c.8165T>G (p.Leu2722Trp)
c.3111T>G
c.3338T>G (p.Leu1113Trp)
c.38T>G (p.Leu13Trp)
n.2911T>G
c.8360T>G (p.Leu2787Trp)
c.8351T>G (p.Leu2784Trp)
c.8342T>G (p.Leu2781Trp)
c.8228T>G (p.Leu2743Trp)
c.8063T>G (p.Leu2688Trp)
c.6212T>G (p.Leu2071Trp)
c.3902T>G (p.Leu1301Trp)
n.8601T>G
18g.23928663G>ACA503340772LAMA3c.3507G>A (p.Leu1169=)
c.8334G>A (p.Leu2778=)
c.4929G>A (p.Leu1643=)
c.8166G>A (p.Leu2722=)
c.3112G>A
c.3339G>A (p.Leu1113=)
c.39G>A (p.Leu13=)
n.2912G>A
c.8361G>A (p.Leu2787=)
c.8352G>A (p.Leu2784=)
c.8343G>A (p.Leu2781=)
c.8229G>A (p.Leu2743=)
c.8064G>A (p.Leu2688=)
c.6213G>A (p.Leu2071=)
c.3903G>A (p.Leu1301=)
n.8602G>A
 gnomAD v4
18g.23928663G>CCA402063878LAMA3c.3507G>C (p.Leu1169Phe)
c.8334G>C (p.Leu2778Phe)
c.4929G>C (p.Leu1643Phe)
c.8166G>C (p.Leu2722Phe)
c.3112G>C
c.3339G>C (p.Leu1113Phe)
c.39G>C (p.Leu13Phe)
n.2912G>C
c.8361G>C (p.Leu2787Phe)
c.8352G>C (p.Leu2784Phe)
c.8343G>C (p.Leu2781Phe)
c.8229G>C (p.Leu2743Phe)
c.8064G>C (p.Leu2688Phe)
c.6213G>C (p.Leu2071Phe)
c.3903G>C (p.Leu1301Phe)
n.8602G>C
18g.23928663G>TCA402063881LAMA3c.3507G>T (p.Leu1169Phe)
c.8334G>T (p.Leu2778Phe)
c.4929G>T (p.Leu1643Phe)
c.8166G>T (p.Leu2722Phe)
c.3112G>T
c.3339G>T (p.Leu1113Phe)
c.39G>T (p.Leu13Phe)
n.2912G>T
c.8361G>T (p.Leu2787Phe)
c.8352G>T (p.Leu2784Phe)
c.8343G>T (p.Leu2781Phe)
c.8229G>T (p.Leu2743Phe)
c.8064G>T (p.Leu2688Phe)
c.6213G>T (p.Leu2071Phe)
c.3903G>T (p.Leu1301Phe)
n.8602G>T
18g.23928664A=CA2290334833LAMA3c.3508A= (p.Ser1170=)
c.8335A= (p.Ser2779=)
c.4930A= (p.Ser1644=)
c.8167A= (p.Ser2723=)
c.3113A=
c.3340A= (p.Ser1114=)
c.40A= (p.Ser14=)
n.2913A=
c.8362A= (p.Ser2788=)
c.8353A= (p.Ser2785=)
c.8344A= (p.Ser2782=)
c.8230A= (p.Ser2744=)
c.8065A= (p.Ser2689=)
c.6214A= (p.Ser2072=)
c.3904A= (p.Ser1302=)
n.8603A=
18g.23928664A>CCA402063883LAMA3c.3508A>C (p.Ser1170Arg)
c.8335A>C (p.Ser2779Arg)
c.4930A>C (p.Ser1644Arg)
c.8167A>C (p.Ser2723Arg)
c.3113A>C
c.3340A>C (p.Ser1114Arg)
c.40A>C (p.Ser14Arg)
n.2913A>C
c.8362A>C (p.Ser2788Arg)
c.8353A>C (p.Ser2785Arg)
c.8344A>C (p.Ser2782Arg)
c.8230A>C (p.Ser2744Arg)
c.8065A>C (p.Ser2689Arg)
c.6214A>C (p.Ser2072Arg)
c.3904A>C (p.Ser1302Arg)
n.8603A>C
18g.23928664A>GCA402063884LAMA3c.3508A>G (p.Ser1170Gly)
c.8335A>G (p.Ser2779Gly)
c.4930A>G (p.Ser1644Gly)
c.8167A>G (p.Ser2723Gly)
c.3113A>G
c.3340A>G (p.Ser1114Gly)
c.40A>G (p.Ser14Gly)
n.2913A>G
c.8362A>G (p.Ser2788Gly)
c.8353A>G (p.Ser2785Gly)
c.8344A>G (p.Ser2782Gly)
c.8230A>G (p.Ser2744Gly)
c.8065A>G (p.Ser2689Gly)
c.6214A>G (p.Ser2072Gly)
c.3904A>G (p.Ser1302Gly)
n.8603A>G
 dbSNP gnomAD v2 gnomAD v4
18g.23928664A>TCA402063887LAMA3c.3508A>T (p.Ser1170Cys)
c.8335A>T (p.Ser2779Cys)
c.4930A>T (p.Ser1644Cys)
c.8167A>T (p.Ser2723Cys)
c.3113A>T
c.3340A>T (p.Ser1114Cys)
c.40A>T (p.Ser14Cys)
n.2913A>T
c.8362A>T (p.Ser2788Cys)
c.8353A>T (p.Ser2785Cys)
c.8344A>T (p.Ser2782Cys)
c.8230A>T (p.Ser2744Cys)
c.8065A>T (p.Ser2689Cys)
c.6214A>T (p.Ser2072Cys)
c.3904A>T (p.Ser1302Cys)
n.8603A>T
18g.23928665G>ACA402063888LAMA3c.3509G>A (p.Ser1170Asn)
c.8336G>A (p.Ser2779Asn)
c.4931G>A (p.Ser1644Asn)
c.8168G>A (p.Ser2723Asn)
c.3114G>A
c.3341G>A (p.Ser1114Asn)
c.41G>A (p.Ser14Asn)
n.2914G>A
c.8363G>A (p.Ser2788Asn)
c.8354G>A (p.Ser2785Asn)
c.8345G>A (p.Ser2782Asn)
c.8231G>A (p.Ser2744Asn)
c.8066G>A (p.Ser2689Asn)
c.6215G>A (p.Ser2072Asn)
c.3905G>A (p.Ser1302Asn)
n.8604G>A
18g.23928665G>CCA402063890LAMA3c.3509G>C (p.Ser1170Thr)
c.8336G>C (p.Ser2779Thr)
c.4931G>C (p.Ser1644Thr)
c.8168G>C (p.Ser2723Thr)
c.3114G>C
c.3341G>C (p.Ser1114Thr)
c.41G>C (p.Ser14Thr)
n.2914G>C
c.8363G>C (p.Ser2788Thr)
c.8354G>C (p.Ser2785Thr)
c.8345G>C (p.Ser2782Thr)
c.8231G>C (p.Ser2744Thr)
c.8066G>C (p.Ser2689Thr)
c.6215G>C (p.Ser2072Thr)
c.3905G>C (p.Ser1302Thr)
n.8604G>C
18g.23928665G>TCA402063891LAMA3c.3509G>T (p.Ser1170Ile)
c.8336G>T (p.Ser2779Ile)
c.4931G>T (p.Ser1644Ile)
c.8168G>T (p.Ser2723Ile)
c.3114G>T
c.3341G>T (p.Ser1114Ile)
c.41G>T (p.Ser14Ile)
n.2914G>T
c.8363G>T (p.Ser2788Ile)
c.8354G>T (p.Ser2785Ile)
c.8345G>T (p.Ser2782Ile)
c.8231G>T (p.Ser2744Ile)
c.8066G>T (p.Ser2689Ile)
c.6215G>T (p.Ser2072Ile)
c.3905G>T (p.Ser1302Ile)
n.8604G>T
18g.23928666T>ACA402063894LAMA3c.3510T>A (p.Ser1170Arg)
c.8337T>A (p.Ser2779Arg)
c.4932T>A (p.Ser1644Arg)
c.8169T>A (p.Ser2723Arg)
c.3115T>A
c.3342T>A (p.Ser1114Arg)
c.42T>A (p.Ser14Arg)
n.2915T>A
c.8364T>A (p.Ser2788Arg)
c.8355T>A (p.Ser2785Arg)
c.8346T>A (p.Ser2782Arg)
c.8232T>A (p.Ser2744Arg)
c.8067T>A (p.Ser2689Arg)
c.6216T>A (p.Ser2072Arg)
c.3906T>A (p.Ser1302Arg)
n.8605T>A
18g.23928666T>CCA503340774LAMA3c.3510T>C (p.Ser1170=)
c.8337T>C (p.Ser2779=)
c.4932T>C (p.Ser1644=)
c.8169T>C (p.Ser2723=)
c.3115T>C
c.3342T>C (p.Ser1114=)
c.42T>C (p.Ser14=)
n.2915T>C
c.8364T>C (p.Ser2788=)
c.8355T>C (p.Ser2785=)
c.8346T>C (p.Ser2782=)
c.8232T>C (p.Ser2744=)
c.8067T>C (p.Ser2689=)
c.6216T>C (p.Ser2072=)
c.3906T>C (p.Ser1302=)
n.8605T>C
18g.23928666T>GCA402063895LAMA3c.3510T>G (p.Ser1170Arg)
c.8337T>G (p.Ser2779Arg)
c.4932T>G (p.Ser1644Arg)
c.8169T>G (p.Ser2723Arg)
c.3115T>G
c.3342T>G (p.Ser1114Arg)
c.42T>G (p.Ser14Arg)
n.2915T>G
c.8364T>G (p.Ser2788Arg)
c.8355T>G (p.Ser2785Arg)
c.8346T>G (p.Ser2782Arg)
c.8232T>G (p.Ser2744Arg)
c.8067T>G (p.Ser2689Arg)
c.6216T>G (p.Ser2072Arg)
c.3906T>G (p.Ser1302Arg)
n.8605T>G
18g.23928667T>ACA402063897LAMA3c.3511T>A (p.Phe1171Ile)
c.8338T>A (p.Phe2780Ile)
c.4933T>A (p.Phe1645Ile)
c.8170T>A (p.Phe2724Ile)
c.3116T>A
c.3343T>A (p.Phe1115Ile)
c.43T>A (p.Phe15Ile)
n.2916T>A
c.8365T>A (p.Phe2789Ile)
c.8356T>A (p.Phe2786Ile)
c.8347T>A (p.Phe2783Ile)
c.8233T>A (p.Phe2745Ile)
c.8068T>A (p.Phe2690Ile)
c.6217T>A (p.Phe2073Ile)
c.3907T>A (p.Phe1303Ile)
n.8606T>A
18g.23928667T>CCA402063900LAMA3c.3511T>C (p.Phe1171Leu)
c.8338T>C (p.Phe2780Leu)
c.4933T>C (p.Phe1645Leu)
c.8170T>C (p.Phe2724Leu)
c.3116T>C
c.3343T>C (p.Phe1115Leu)
c.43T>C (p.Phe15Leu)
n.2916T>C
c.8365T>C (p.Phe2789Leu)
c.8356T>C (p.Phe2786Leu)
c.8347T>C (p.Phe2783Leu)
c.8233T>C (p.Phe2745Leu)
c.8068T>C (p.Phe2690Leu)
c.6217T>C (p.Phe2073Leu)
c.3907T>C (p.Phe1303Leu)
n.8606T>C
18g.23928667T>GCA402063898LAMA3c.3511T>G (p.Phe1171Val)
c.8338T>G (p.Phe2780Val)
c.4933T>G (p.Phe1645Val)
c.8170T>G (p.Phe2724Val)
c.3116T>G
c.3343T>G (p.Phe1115Val)
c.43T>G (p.Phe15Val)
n.2916T>G
c.8365T>G (p.Phe2789Val)
c.8356T>G (p.Phe2786Val)
c.8347T>G (p.Phe2783Val)
c.8233T>G (p.Phe2745Val)
c.8068T>G (p.Phe2690Val)
c.6217T>G (p.Phe2073Val)
c.3907T>G (p.Phe1303Val)
n.8606T>G
18g.23928668T>ACA402063902LAMA3c.3512T>A (p.Phe1171Tyr)
c.8339T>A (p.Phe2780Tyr)
c.4934T>A (p.Phe1645Tyr)
c.8171T>A (p.Phe2724Tyr)
c.3117T>A
c.3344T>A (p.Phe1115Tyr)
c.44T>A (p.Phe15Tyr)
n.2917T>A
c.8366T>A (p.Phe2789Tyr)
c.8357T>A (p.Phe2786Tyr)
c.8348T>A (p.Phe2783Tyr)
c.8234T>A (p.Phe2745Tyr)
c.8069T>A (p.Phe2690Tyr)
c.6218T>A (p.Phe2073Tyr)
c.3908T>A (p.Phe1303Tyr)
n.8607T>A
18g.23928668T>CCA402063903LAMA3c.3512T>C (p.Phe1171Ser)
c.8339T>C (p.Phe2780Ser)
c.4934T>C (p.Phe1645Ser)
c.8171T>C (p.Phe2724Ser)
c.3117T>C
c.3344T>C (p.Phe1115Ser)
c.44T>C (p.Phe15Ser)
n.2917T>C
c.8366T>C (p.Phe2789Ser)
c.8357T>C (p.Phe2786Ser)
c.8348T>C (p.Phe2783Ser)
c.8234T>C (p.Phe2745Ser)
c.8069T>C (p.Phe2690Ser)
c.6218T>C (p.Phe2073Ser)
c.3908T>C (p.Phe1303Ser)
n.8607T>C
18g.23928668T>GCA402063904LAMA3c.3512T>G (p.Phe1171Cys)
c.8339T>G (p.Phe2780Cys)
c.4934T>G (p.Phe1645Cys)
c.8171T>G (p.Phe2724Cys)
c.3117T>G
c.3344T>G (p.Phe1115Cys)
c.44T>G (p.Phe15Cys)
n.2917T>G
c.8366T>G (p.Phe2789Cys)
c.8357T>G (p.Phe2786Cys)
c.8348T>G (p.Phe2783Cys)
c.8234T>G (p.Phe2745Cys)
c.8069T>G (p.Phe2690Cys)
c.6218T>G (p.Phe2073Cys)
c.3908T>G (p.Phe1303Cys)
n.8607T>G
18g.23928669C>ACA402063905LAMA3c.3513C>A (p.Phe1171Leu)
c.8340C>A (p.Phe2780Leu)
c.4935C>A (p.Phe1645Leu)
c.8172C>A (p.Phe2724Leu)
c.3118C>A
c.3345C>A (p.Phe1115Leu)
c.45C>A (p.Phe15Leu)
n.2918C>A
c.8367C>A (p.Phe2789Leu)
c.8358C>A (p.Phe2786Leu)
c.8349C>A (p.Phe2783Leu)
c.8235C>A (p.Phe2745Leu)
c.8070C>A (p.Phe2690Leu)
c.6219C>A (p.Phe2073Leu)
c.3909C>A (p.Phe1303Leu)
n.8608C>A
18g.23928669C>GCA402063906LAMA3c.3513C>G (p.Phe1171Leu)
c.8340C>G (p.Phe2780Leu)
c.4935C>G (p.Phe1645Leu)
c.8172C>G (p.Phe2724Leu)
c.3118C>G
c.3345C>G (p.Phe1115Leu)
c.45C>G (p.Phe15Leu)
n.2918C>G
c.8367C>G (p.Phe2789Leu)
c.8358C>G (p.Phe2786Leu)
c.8349C>G (p.Phe2783Leu)
c.8235C>G (p.Phe2745Leu)
c.8070C>G (p.Phe2690Leu)
c.6219C>G (p.Phe2073Leu)
c.3909C>G (p.Phe1303Leu)
n.8608C>G
18g.23928669C>TCA503340776LAMA3c.3513C>T (p.Phe1171=)
c.8340C>T (p.Phe2780=)
c.4935C>T (p.Phe1645=)
c.8172C>T (p.Phe2724=)
c.3118C>T
c.3345C>T (p.Phe1115=)
c.45C>T (p.Phe15=)
n.2918C>T
c.8367C>T (p.Phe2789=)
c.8358C>T (p.Phe2786=)
c.8349C>T (p.Phe2783=)
c.8235C>T (p.Phe2745=)
c.8070C>T (p.Phe2690=)
c.6219C>T (p.Phe2073=)
c.3909C>T (p.Phe1303=)
n.8608C>T
 COSMIC COSMIC
18g.23928670A>CCA402063908LAMA3c.3514A>C (p.Thr1172Pro)
c.8341A>C (p.Thr2781Pro)
c.4936A>C (p.Thr1646Pro)
c.8173A>C (p.Thr2725Pro)
c.3119A>C
c.3346A>C (p.Thr1116Pro)
c.46A>C (p.Thr16Pro)
n.2919A>C
c.8368A>C (p.Thr2790Pro)
c.8359A>C (p.Thr2787Pro)
c.8350A>C (p.Thr2784Pro)
c.8236A>C (p.Thr2746Pro)
c.8071A>C (p.Thr2691Pro)
c.6220A>C (p.Thr2074Pro)
c.3910A>C (p.Thr1304Pro)
n.8609A>C
18g.23928670A>GCA402063910LAMA3c.3514A>G (p.Thr1172Ala)
c.8341A>G (p.Thr2781Ala)
c.4936A>G (p.Thr1646Ala)
c.8173A>G (p.Thr2725Ala)
c.3119A>G
c.3346A>G (p.Thr1116Ala)
c.46A>G (p.Thr16Ala)
n.2919A>G
c.8368A>G (p.Thr2790Ala)
c.8359A>G (p.Thr2787Ala)
c.8350A>G (p.Thr2784Ala)
c.8236A>G (p.Thr2746Ala)
c.8071A>G (p.Thr2691Ala)
c.6220A>G (p.Thr2074Ala)
c.3910A>G (p.Thr1304Ala)
n.8609A>G
18g.23928670A>TCA402063911LAMA3c.3514A>T (p.Thr1172Ser)
c.8341A>T (p.Thr2781Ser)
c.4936A>T (p.Thr1646Ser)
c.8173A>T (p.Thr2725Ser)
c.3119A>T
c.3346A>T (p.Thr1116Ser)
c.46A>T (p.Thr16Ser)
n.2919A>T
c.8368A>T (p.Thr2790Ser)
c.8359A>T (p.Thr2787Ser)
c.8350A>T (p.Thr2784Ser)
c.8236A>T (p.Thr2746Ser)
c.8071A>T (p.Thr2691Ser)
c.6220A>T (p.Thr2074Ser)
c.3910A>T (p.Thr1304Ser)
n.8609A>T
18g.23928671C>ACA402063913LAMA3c.3515C>A (p.Thr1172Asn)
c.8342C>A (p.Thr2781Asn)
c.4937C>A (p.Thr1646Asn)
c.8174C>A (p.Thr2725Asn)
c.3120C>A
c.3347C>A (p.Thr1116Asn)
c.47C>A (p.Thr16Asn)
n.2920C>A
c.8369C>A (p.Thr2790Asn)
c.8360C>A (p.Thr2787Asn)
c.8351C>A (p.Thr2784Asn)
c.8237C>A (p.Thr2746Asn)
c.8072C>A (p.Thr2691Asn)
c.6221C>A (p.Thr2074Asn)
c.3911C>A (p.Thr1304Asn)
n.8610C>A
18g.23928671C>GCA402063916LAMA3c.3515C>G (p.Thr1172Ser)
c.8342C>G (p.Thr2781Ser)
c.4937C>G (p.Thr1646Ser)
c.8174C>G (p.Thr2725Ser)
c.3120C>G
c.3347C>G (p.Thr1116Ser)
c.47C>G (p.Thr16Ser)
n.2920C>G
c.8369C>G (p.Thr2790Ser)
c.8360C>G (p.Thr2787Ser)
c.8351C>G (p.Thr2784Ser)
c.8237C>G (p.Thr2746Ser)
c.8072C>G (p.Thr2691Ser)
c.6221C>G (p.Thr2074Ser)
c.3911C>G (p.Thr1304Ser)
n.8610C>G
18g.23928671C>TCA402063918LAMA3c.3515C>T (p.Thr1172Ile)
c.8342C>T (p.Thr2781Ile)
c.4937C>T (p.Thr1646Ile)
c.8174C>T (p.Thr2725Ile)
c.3120C>T
c.3347C>T (p.Thr1116Ile)
c.47C>T (p.Thr16Ile)
n.2920C>T
c.8369C>T (p.Thr2790Ile)
c.8360C>T (p.Thr2787Ile)
c.8351C>T (p.Thr2784Ile)
c.8237C>T (p.Thr2746Ile)
c.8072C>T (p.Thr2691Ile)
c.6221C>T (p.Thr2074Ile)
c.3911C>T (p.Thr1304Ile)
n.8610C>T
 gnomAD v4
18g.23928672T>ACA503340777LAMA3c.3516T>A (p.Thr1172=)
c.8343T>A (p.Thr2781=)
c.4938T>A (p.Thr1646=)
c.8175T>A (p.Thr2725=)
c.3121T>A
c.3348T>A (p.Thr1116=)
c.48T>A (p.Thr16=)
n.2921T>A
c.8370T>A (p.Thr2790=)
c.8361T>A (p.Thr2787=)
c.8352T>A (p.Thr2784=)
c.8238T>A (p.Thr2746=)
c.8073T>A (p.Thr2691=)
c.6222T>A (p.Thr2074=)
c.3912T>A (p.Thr1304=)
n.8611T>A
 ClinVar dbSNP
18g.23928672T>CCA503340778LAMA3c.3516T>C (p.Thr1172=)
c.8343T>C (p.Thr2781=)
c.4938T>C (p.Thr1646=)
c.8175T>C (p.Thr2725=)
c.3121T>C
c.3348T>C (p.Thr1116=)
c.48T>C (p.Thr16=)
n.2921T>C
c.8370T>C (p.Thr2790=)
c.8361T>C (p.Thr2787=)
c.8352T>C (p.Thr2784=)
c.8238T>C (p.Thr2746=)
c.8073T>C (p.Thr2691=)
c.6222T>C (p.Thr2074=)
c.3912T>C (p.Thr1304=)
n.8611T>C
 ClinVar dbSNP
18g.23928672T>GCA503340779LAMA3c.3516T>G (p.Thr1172=)
c.8343T>G (p.Thr2781=)
c.4938T>G (p.Thr1646=)
c.8175T>G (p.Thr2725=)
c.3121T>G
c.3348T>G (p.Thr1116=)
c.48T>G (p.Thr16=)
n.2921T>G
c.8370T>G (p.Thr2790=)
c.8361T>G (p.Thr2787=)
c.8352T>G (p.Thr2784=)
c.8238T>G (p.Thr2746=)
c.8073T>G (p.Thr2691=)
c.6222T>G (p.Thr2074=)
c.3912T>G (p.Thr1304=)
n.8611T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23928672T=CA2290334834LAMA3c.3516T= (p.Thr1172=)
c.8343T= (p.Thr2781=)
c.4938T= (p.Thr1646=)
c.8175T= (p.Thr2725=)
c.3121T=
c.3348T= (p.Thr1116=)
c.48T= (p.Thr16=)
n.2921T=
c.8370T= (p.Thr2790=)
c.8361T= (p.Thr2787=)
c.8352T= (p.Thr2784=)
c.8238T= (p.Thr2746=)
c.8073T= (p.Thr2691=)
c.6222T= (p.Thr2074=)
c.3912T= (p.Thr1304=)
n.8611T=
18g.23928673G>ACA297122864LAMA3c.3517G>A (p.Asp1173Asn)
c.8344G>A (p.Asp2782Asn)
c.4939G>A (p.Asp1647Asn)
c.8176G>A (p.Asp2726Asn)
c.3122G>A
c.3349G>A (p.Asp1117Asn)
c.49G>A (p.Asp17Asn)
n.2922G>A
c.8371G>A (p.Asp2791Asn)
c.8362G>A (p.Asp2788Asn)
c.8353G>A (p.Asp2785Asn)
c.8239G>A (p.Asp2747Asn)
c.8074G>A (p.Asp2692Asn)
c.6223G>A (p.Asp2075Asn)
c.3913G>A (p.Asp1305Asn)
n.8612G>A
 dbSNP gnomAD v4
18g.23928673G>CCA402063922LAMA3c.3517G>C (p.Asp1173His)
c.8344G>C (p.Asp2782His)
c.4939G>C (p.Asp1647His)
c.8176G>C (p.Asp2726His)
c.3122G>C
c.3349G>C (p.Asp1117His)
c.49G>C (p.Asp17His)
n.2922G>C
c.8371G>C (p.Asp2791His)
c.8362G>C (p.Asp2788His)
c.8353G>C (p.Asp2785His)
c.8239G>C (p.Asp2747His)
c.8074G>C (p.Asp2692His)
c.6223G>C (p.Asp2075His)
c.3913G>C (p.Asp1305His)
n.8612G>C
18g.23928673G=CA2290334835LAMA3c.3517G= (p.Asp1173=)
c.8344G= (p.Asp2782=)
c.4939G= (p.Asp1647=)
c.8176G= (p.Asp2726=)
c.3122G=
c.3349G= (p.Asp1117=)
c.49G= (p.Asp17=)
n.2922G=
c.8371G= (p.Asp2791=)
c.8362G= (p.Asp2788=)
c.8353G= (p.Asp2785=)
c.8239G= (p.Asp2747=)
c.8074G= (p.Asp2692=)
c.6223G= (p.Asp2075=)
c.3913G= (p.Asp1305=)
n.8612G=
18g.23928673G>TCA402063921LAMA3c.3517G>T (p.Asp1173Tyr)
c.8344G>T (p.Asp2782Tyr)
c.4939G>T (p.Asp1647Tyr)
c.8176G>T (p.Asp2726Tyr)
c.3122G>T
c.3349G>T (p.Asp1117Tyr)
c.49G>T (p.Asp17Tyr)
n.2922G>T
c.8371G>T (p.Asp2791Tyr)
c.8362G>T (p.Asp2788Tyr)
c.8353G>T (p.Asp2785Tyr)
c.8239G>T (p.Asp2747Tyr)
c.8074G>T (p.Asp2692Tyr)
c.6223G>T (p.Asp2075Tyr)
c.3913G>T (p.Asp1305Tyr)
n.8612G>T
18g.23928674A>CCA402063928LAMA3c.3518A>C (p.Asp1173Ala)
c.8345A>C (p.Asp2782Ala)
c.4940A>C (p.Asp1647Ala)
c.8177A>C (p.Asp2726Ala)
c.3123A>C
c.3350A>C (p.Asp1117Ala)
c.50A>C (p.Asp17Ala)
n.2923A>C
c.8372A>C (p.Asp2791Ala)
c.8363A>C (p.Asp2788Ala)
c.8354A>C (p.Asp2785Ala)
c.8240A>C (p.Asp2747Ala)
c.8075A>C (p.Asp2692Ala)
c.6224A>C (p.Asp2075Ala)
c.3914A>C (p.Asp1305Ala)
n.8613A>C
18g.23928674A>GCA402063925LAMA3c.3518A>G (p.Asp1173Gly)
c.8345A>G (p.Asp2782Gly)
c.4940A>G (p.Asp1647Gly)
c.8177A>G (p.Asp2726Gly)
c.3123A>G
c.3350A>G (p.Asp1117Gly)
c.50A>G (p.Asp17Gly)
n.2923A>G
c.8372A>G (p.Asp2791Gly)
c.8363A>G (p.Asp2788Gly)
c.8354A>G (p.Asp2785Gly)
c.8240A>G (p.Asp2747Gly)
c.8075A>G (p.Asp2692Gly)
c.6224A>G (p.Asp2075Gly)
c.3914A>G (p.Asp1305Gly)
n.8613A>G
18g.23928674A>TCA402063926LAMA3c.3518A>T (p.Asp1173Val)
c.8345A>T (p.Asp2782Val)
c.4940A>T (p.Asp1647Val)
c.8177A>T (p.Asp2726Val)
c.3123A>T
c.3350A>T (p.Asp1117Val)
c.50A>T (p.Asp17Val)
n.2923A>T
c.8372A>T (p.Asp2791Val)
c.8363A>T (p.Asp2788Val)
c.8354A>T (p.Asp2785Val)
c.8240A>T (p.Asp2747Val)
c.8075A>T (p.Asp2692Val)
c.6224A>T (p.Asp2075Val)
c.3914A>T (p.Asp1305Val)
n.8613A>T
18g.23928675T>ACA402063930LAMA3c.3519T>A (p.Asp1173Glu)
c.8346T>A (p.Asp2782Glu)
c.4941T>A (p.Asp1647Glu)
c.8178T>A (p.Asp2726Glu)
c.3124T>A
c.3351T>A (p.Asp1117Glu)
c.51T>A (p.Asp17Glu)
n.2924T>A
c.8373T>A (p.Asp2791Glu)
c.8364T>A (p.Asp2788Glu)
c.8355T>A (p.Asp2785Glu)
c.8241T>A (p.Asp2747Glu)
c.8076T>A (p.Asp2692Glu)
c.6225T>A (p.Asp2075Glu)
c.3915T>A (p.Asp1305Glu)
n.8614T>A
18g.23928675T>CCA503340780LAMA3c.3519T>C (p.Asp1173=)
c.8346T>C (p.Asp2782=)
c.4941T>C (p.Asp1647=)
c.8178T>C (p.Asp2726=)
c.3124T>C
c.3351T>C (p.Asp1117=)
c.51T>C (p.Asp17=)
n.2924T>C
c.8373T>C (p.Asp2791=)
c.8364T>C (p.Asp2788=)
c.8355T>C (p.Asp2785=)
c.8241T>C (p.Asp2747=)
c.8076T>C (p.Asp2692=)
c.6225T>C (p.Asp2075=)
c.3915T>C (p.Asp1305=)
n.8614T>C
18g.23928675T>GCA402063932LAMA3c.3519T>G (p.Asp1173Glu)
c.8346T>G (p.Asp2782Glu)
c.4941T>G (p.Asp1647Glu)
c.8178T>G (p.Asp2726Glu)
c.3124T>G
c.3351T>G (p.Asp1117Glu)
c.51T>G (p.Asp17Glu)
n.2924T>G
c.8373T>G (p.Asp2791Glu)
c.8364T>G (p.Asp2788Glu)
c.8355T>G (p.Asp2785Glu)
c.8241T>G (p.Asp2747Glu)
c.8076T>G (p.Asp2692Glu)
c.6225T>G (p.Asp2075Glu)
c.3915T>G (p.Asp1305Glu)
n.8614T>G
18g.23928676T>ACA402063934LAMA3c.3520T>A (p.Leu1174Met)
c.8347T>A (p.Leu2783Met)
c.4942T>A (p.Leu1648Met)
c.8179T>A (p.Leu2727Met)
c.3125T>A
c.3352T>A (p.Leu1118Met)
c.52T>A (p.Leu18Met)
n.2925T>A
c.8374T>A (p.Leu2792Met)
c.8365T>A (p.Leu2789Met)
c.8356T>A (p.Leu2786Met)
c.8242T>A (p.Leu2748Met)
c.8077T>A (p.Leu2693Met)
c.6226T>A (p.Leu2076Met)
c.3916T>A (p.Leu1306Met)
n.8615T>A
18g.23928676T>CCA503340781LAMA3c.3520T>C (p.Leu1174=)
c.8347T>C (p.Leu2783=)
c.4942T>C (p.Leu1648=)
c.8179T>C (p.Leu2727=)
c.3125T>C
c.3352T>C (p.Leu1118=)
c.52T>C (p.Leu18=)
n.2925T>C
c.8374T>C (p.Leu2792=)
c.8365T>C (p.Leu2789=)
c.8356T>C (p.Leu2786=)
c.8242T>C (p.Leu2748=)
c.8077T>C (p.Leu2693=)
c.6226T>C (p.Leu2076=)
c.3916T>C (p.Leu1306=)
n.8615T>C
18g.23928676T>GCA402063935LAMA3c.3520T>G (p.Leu1174Val)
c.8347T>G (p.Leu2783Val)
c.4942T>G (p.Leu1648Val)
c.8179T>G (p.Leu2727Val)
c.3125T>G
c.3352T>G (p.Leu1118Val)
c.52T>G (p.Leu18Val)
n.2925T>G
c.8374T>G (p.Leu2792Val)
c.8365T>G (p.Leu2789Val)
c.8356T>G (p.Leu2786Val)
c.8242T>G (p.Leu2748Val)
c.8077T>G (p.Leu2693Val)
c.6226T>G (p.Leu2076Val)
c.3916T>G (p.Leu1306Val)
n.8615T>G
18g.23928677T>ACA402063940LAMA3c.3521T>A (p.Leu1174Ter)
c.8348T>A (p.Leu2783Ter)
c.4943T>A (p.Leu1648Ter)
c.8180T>A (p.Leu2727Ter)
c.3126T>A
c.3353T>A (p.Leu1118Ter)
c.53T>A (p.Leu18Ter)
n.2926T>A
c.8375T>A (p.Leu2792Ter)
c.8366T>A (p.Leu2789Ter)
c.8357T>A (p.Leu2786Ter)
c.8243T>A (p.Leu2748Ter)
c.8078T>A (p.Leu2693Ter)
c.6227T>A (p.Leu2076Ter)
c.3917T>A (p.Leu1306Ter)
n.8616T>A
18g.23928677T>CCA402063938LAMA3c.3521T>C (p.Leu1174Ser)
c.8348T>C (p.Leu2783Ser)
c.4943T>C (p.Leu1648Ser)
c.8180T>C (p.Leu2727Ser)
c.3126T>C
c.3353T>C (p.Leu1118Ser)
c.53T>C (p.Leu18Ser)
n.2926T>C
c.8375T>C (p.Leu2792Ser)
c.8366T>C (p.Leu2789Ser)
c.8357T>C (p.Leu2786Ser)
c.8243T>C (p.Leu2748Ser)
c.8078T>C (p.Leu2693Ser)
c.6227T>C (p.Leu2076Ser)
c.3917T>C (p.Leu1306Ser)
n.8616T>C
18g.23928677T>GCA402063939LAMA3c.3521T>G (p.Leu1174Trp)
c.8348T>G (p.Leu2783Trp)
c.4943T>G (p.Leu1648Trp)
c.8180T>G (p.Leu2727Trp)
c.3126T>G
c.3353T>G (p.Leu1118Trp)
c.53T>G (p.Leu18Trp)
n.2926T>G
c.8375T>G (p.Leu2792Trp)
c.8366T>G (p.Leu2789Trp)
c.8357T>G (p.Leu2786Trp)
c.8243T>G (p.Leu2748Trp)
c.8078T>G (p.Leu2693Trp)
c.6227T>G (p.Leu2076Trp)
c.3917T>G (p.Leu1306Trp)
n.8616T>G
18g.23928678G>ACA503340782LAMA3c.3522G>A (p.Leu1174=)
c.8349G>A (p.Leu2783=)
c.4944G>A (p.Leu1648=)
c.8181G>A (p.Leu2727=)
c.3127G>A
c.3354G>A (p.Leu1118=)
c.54G>A (p.Leu18=)
n.2927G>A
c.8376G>A (p.Leu2792=)
c.8367G>A (p.Leu2789=)
c.8358G>A (p.Leu2786=)
c.8244G>A (p.Leu2748=)
c.8079G>A (p.Leu2693=)
c.6228G>A (p.Leu2076=)
c.3918G>A (p.Leu1306=)
n.8617G>A
18g.23928678G>CCA402063943LAMA3c.3522G>C (p.Leu1174Phe)
c.8349G>C (p.Leu2783Phe)
c.4944G>C (p.Leu1648Phe)
c.8181G>C (p.Leu2727Phe)
c.3127G>C
c.3354G>C (p.Leu1118Phe)
c.54G>C (p.Leu18Phe)
n.2927G>C
c.8376G>C (p.Leu2792Phe)
c.8367G>C (p.Leu2789Phe)
c.8358G>C (p.Leu2786Phe)
c.8244G>C (p.Leu2748Phe)
c.8079G>C (p.Leu2693Phe)
c.6228G>C (p.Leu2076Phe)
c.3918G>C (p.Leu1306Phe)
n.8617G>C
18g.23928678G>TCA402063944LAMA3c.3522G>T (p.Leu1174Phe)
c.8349G>T (p.Leu2783Phe)
c.4944G>T (p.Leu1648Phe)
c.8181G>T (p.Leu2727Phe)
c.3127G>T
c.3354G>T (p.Leu1118Phe)
c.54G>T (p.Leu18Phe)
n.2927G>T
c.8376G>T (p.Leu2792Phe)
c.8367G>T (p.Leu2789Phe)
c.8358G>T (p.Leu2786Phe)
c.8244G>T (p.Leu2748Phe)
c.8079G>T (p.Leu2693Phe)
c.6228G>T (p.Leu2076Phe)
c.3918G>T (p.Leu1306Phe)
n.8617G>T
18g.23928679G>ACA402063946LAMA3c.3523G>A (p.Gly1175Ser)
c.8350G>A (p.Gly2784Ser)
c.4945G>A (p.Gly1649Ser)
c.8182G>A (p.Gly2728Ser)
c.3128G>A
c.3355G>A (p.Gly1119Ser)
c.55G>A (p.Gly19Ser)
n.2928G>A
c.8377G>A (p.Gly2793Ser)
c.8368G>A (p.Gly2790Ser)
c.8359G>A (p.Gly2787Ser)
c.8245G>A (p.Gly2749Ser)
c.8080G>A (p.Gly2694Ser)
c.6229G>A (p.Gly2077Ser)
c.3919G>A (p.Gly1307Ser)
n.8618G>A
18g.23928679G>CCA402063948LAMA3c.3523G>C (p.Gly1175Arg)
c.8350G>C (p.Gly2784Arg)
c.4945G>C (p.Gly1649Arg)
c.8182G>C (p.Gly2728Arg)
c.3128G>C
c.3355G>C (p.Gly1119Arg)
c.55G>C (p.Gly19Arg)
n.2928G>C
c.8377G>C (p.Gly2793Arg)
c.8368G>C (p.Gly2790Arg)
c.8359G>C (p.Gly2787Arg)
c.8245G>C (p.Gly2749Arg)
c.8080G>C (p.Gly2694Arg)
c.6229G>C (p.Gly2077Arg)
c.3919G>C (p.Gly1307Arg)
n.8618G>C
18g.23928679G>TCA402063950LAMA3c.3523G>T (p.Gly1175Cys)
c.8350G>T (p.Gly2784Cys)
c.4945G>T (p.Gly1649Cys)
c.8182G>T (p.Gly2728Cys)
c.3128G>T
c.3355G>T (p.Gly1119Cys)
c.55G>T (p.Gly19Cys)
n.2928G>T
c.8377G>T (p.Gly2793Cys)
c.8368G>T (p.Gly2790Cys)
c.8359G>T (p.Gly2787Cys)
c.8245G>T (p.Gly2749Cys)
c.8080G>T (p.Gly2694Cys)
c.6229G>T (p.Gly2077Cys)
c.3919G>T (p.Gly1307Cys)
n.8618G>T
18g.23928680G>ACA402063956LAMA3c.3524G>A (p.Gly1175Asp)
c.8351G>A (p.Gly2784Asp)
c.4946G>A (p.Gly1649Asp)
c.8183G>A (p.Gly2728Asp)
c.3129G>A
c.3356G>A (p.Gly1119Asp)
c.56G>A (p.Gly19Asp)
n.2929G>A
c.8378G>A (p.Gly2793Asp)
c.8369G>A (p.Gly2790Asp)
c.8360G>A (p.Gly2787Asp)
c.8246G>A (p.Gly2749Asp)
c.8081G>A (p.Gly2694Asp)
c.6230G>A (p.Gly2077Asp)
c.3920G>A (p.Gly1307Asp)
n.8619G>A
18g.23928680G>CCA402063952LAMA3c.3524G>C (p.Gly1175Ala)
c.8351G>C (p.Gly2784Ala)
c.4946G>C (p.Gly1649Ala)
c.8183G>C (p.Gly2728Ala)
c.3129G>C
c.3356G>C (p.Gly1119Ala)
c.56G>C (p.Gly19Ala)
n.2929G>C
c.8378G>C (p.Gly2793Ala)
c.8369G>C (p.Gly2790Ala)
c.8360G>C (p.Gly2787Ala)
c.8246G>C (p.Gly2749Ala)
c.8081G>C (p.Gly2694Ala)
c.6230G>C (p.Gly2077Ala)
c.3920G>C (p.Gly1307Ala)
n.8619G>C
18g.23928680G>TCA402063954LAMA3c.3524G>T (p.Gly1175Val)
c.8351G>T (p.Gly2784Val)
c.4946G>T (p.Gly1649Val)
c.8183G>T (p.Gly2728Val)
c.3129G>T
c.3356G>T (p.Gly1119Val)
c.56G>T (p.Gly19Val)
n.2929G>T
c.8378G>T (p.Gly2793Val)
c.8369G>T (p.Gly2790Val)
c.8360G>T (p.Gly2787Val)
c.8246G>T (p.Gly2749Val)
c.8081G>T (p.Gly2694Val)
c.6230G>T (p.Gly2077Val)
c.3920G>T (p.Gly1307Val)
n.8619G>T
18g.23928681C>ACA503340783LAMA3c.3525C>A (p.Gly1175=)
c.8352C>A (p.Gly2784=)
c.4947C>A (p.Gly1649=)
c.8184C>A (p.Gly2728=)
c.3130C>A
c.3357C>A (p.Gly1119=)
c.57C>A (p.Gly19=)
n.2930C>A
c.8379C>A (p.Gly2793=)
c.8370C>A (p.Gly2790=)
c.8361C>A (p.Gly2787=)
c.8247C>A (p.Gly2749=)
c.8082C>A (p.Gly2694=)
c.6231C>A (p.Gly2077=)
c.3921C>A (p.Gly1307=)
n.8620C>A
18g.23928681C>GCA503340784LAMA3c.3525C>G (p.Gly1175=)
c.8352C>G (p.Gly2784=)
c.4947C>G (p.Gly1649=)
c.8184C>G (p.Gly2728=)
c.3130C>G
c.3357C>G (p.Gly1119=)
c.57C>G (p.Gly19=)
n.2930C>G
c.8379C>G (p.Gly2793=)
c.8370C>G (p.Gly2790=)
c.8361C>G (p.Gly2787=)
c.8247C>G (p.Gly2749=)
c.8082C>G (p.Gly2694=)
c.6231C>G (p.Gly2077=)
c.3921C>G (p.Gly1307=)
n.8620C>G
18g.23928681C>TCA503340785LAMA3c.3525C>T (p.Gly1175=)
c.8352C>T (p.Gly2784=)
c.4947C>T (p.Gly1649=)
c.8184C>T (p.Gly2728=)
c.3130C>T
c.3357C>T (p.Gly1119=)
c.57C>T (p.Gly19=)
n.2930C>T
c.8379C>T (p.Gly2793=)
c.8370C>T (p.Gly2790=)
c.8361C>T (p.Gly2787=)
c.8247C>T (p.Gly2749=)
c.8082C>T (p.Gly2694=)
c.6231C>T (p.Gly2077=)
c.3921C>T (p.Gly1307=)
n.8620C>T
 ClinVar
18g.23928682T>ACA402063957LAMA3c.3526T>A (p.Leu1176Ile)
c.8353T>A (p.Leu2785Ile)
c.4948T>A (p.Leu1650Ile)
c.8185T>A (p.Leu2729Ile)
c.3131T>A
c.3358T>A (p.Leu1120Ile)
c.58T>A (p.Leu20Ile)
n.2931T>A
c.8380T>A (p.Leu2794Ile)
c.8371T>A (p.Leu2791Ile)
c.8362T>A (p.Leu2788Ile)
c.8248T>A (p.Leu2750Ile)
c.8083T>A (p.Leu2695Ile)
c.6232T>A (p.Leu2078Ile)
c.3922T>A (p.Leu1308Ile)
n.8621T>A
18g.23928682T>CCA503340786LAMA3c.3526T>C (p.Leu1176=)
c.8353T>C (p.Leu2785=)
c.4948T>C (p.Leu1650=)
c.8185T>C (p.Leu2729=)
c.3131T>C
c.3358T>C (p.Leu1120=)
c.58T>C (p.Leu20=)
n.2931T>C
c.8380T>C (p.Leu2794=)
c.8371T>C (p.Leu2791=)
c.8362T>C (p.Leu2788=)
c.8248T>C (p.Leu2750=)
c.8083T>C (p.Leu2695=)
c.6232T>C (p.Leu2078=)
c.3922T>C (p.Leu1308=)
n.8621T>C
18g.23928682T>GCA402063960LAMA3c.3526T>G (p.Leu1176Val)
c.8353T>G (p.Leu2785Val)
c.4948T>G (p.Leu1650Val)
c.8185T>G (p.Leu2729Val)
c.3131T>G
c.3358T>G (p.Leu1120Val)
c.58T>G (p.Leu20Val)
n.2931T>G
c.8380T>G (p.Leu2794Val)
c.8371T>G (p.Leu2791Val)
c.8362T>G (p.Leu2788Val)
c.8248T>G (p.Leu2750Val)
c.8083T>G (p.Leu2695Val)
c.6232T>G (p.Leu2078Val)
c.3922T>G (p.Leu1308Val)
n.8621T>G
18g.23928683T>ACA402063962LAMA3c.3527T>A (p.Leu1176Ter)
c.8354T>A (p.Leu2785Ter)
c.4949T>A (p.Leu1650Ter)
c.8186T>A (p.Leu2729Ter)
c.3132T>A
c.3359T>A (p.Leu1120Ter)
c.59T>A (p.Leu20Ter)
n.2932T>A
c.8381T>A (p.Leu2794Ter)
c.8372T>A (p.Leu2791Ter)
c.8363T>A (p.Leu2788Ter)
c.8249T>A (p.Leu2750Ter)
c.8084T>A (p.Leu2695Ter)
c.6233T>A (p.Leu2078Ter)
c.3923T>A (p.Leu1308Ter)
n.8622T>A
18g.23928683T>CCA402063964LAMA3c.3527T>C (p.Leu1176Ser)
c.8354T>C (p.Leu2785Ser)
c.4949T>C (p.Leu1650Ser)
c.8186T>C (p.Leu2729Ser)
c.3132T>C
c.3359T>C (p.Leu1120Ser)
c.59T>C (p.Leu20Ser)
n.2932T>C
c.8381T>C (p.Leu2794Ser)
c.8372T>C (p.Leu2791Ser)
c.8363T>C (p.Leu2788Ser)
c.8249T>C (p.Leu2750Ser)
c.8084T>C (p.Leu2695Ser)
c.6233T>C (p.Leu2078Ser)
c.3923T>C (p.Leu1308Ser)
n.8622T>C
18g.23928683T>GCA402063966LAMA3c.3527T>G (p.Leu1176Ter)
c.8354T>G (p.Leu2785Ter)
c.4949T>G (p.Leu1650Ter)
c.8186T>G (p.Leu2729Ter)
c.3132T>G
c.3359T>G (p.Leu1120Ter)
c.59T>G (p.Leu20Ter)
n.2932T>G
c.8381T>G (p.Leu2794Ter)
c.8372T>G (p.Leu2791Ter)
c.8363T>G (p.Leu2788Ter)
c.8249T>G (p.Leu2750Ter)
c.8084T>G (p.Leu2695Ter)
c.6233T>G (p.Leu2078Ter)
c.3923T>G (p.Leu1308Ter)
n.8622T>G
18g.23928684A>CCA402063967LAMA3c.3528A>C (p.Leu1176Phe)
c.8355A>C (p.Leu2785Phe)
c.4950A>C (p.Leu1650Phe)
c.8187A>C (p.Leu2729Phe)
c.3133A>C
c.3360A>C (p.Leu1120Phe)
c.60A>C (p.Leu20Phe)
n.2933A>C
c.8382A>C (p.Leu2794Phe)
c.8373A>C (p.Leu2791Phe)
c.8364A>C (p.Leu2788Phe)
c.8250A>C (p.Leu2750Phe)
c.8085A>C (p.Leu2695Phe)
c.6234A>C (p.Leu2078Phe)
c.3924A>C (p.Leu1308Phe)
n.8623A>C
18g.23928684A>GCA503340787LAMA3c.3528A>G (p.Leu1176=)
c.8355A>G (p.Leu2785=)
c.4950A>G (p.Leu1650=)
c.8187A>G (p.Leu2729=)
c.3133A>G
c.3360A>G (p.Leu1120=)
c.60A>G (p.Leu20=)
n.2933A>G
c.8382A>G (p.Leu2794=)
c.8373A>G (p.Leu2791=)
c.8364A>G (p.Leu2788=)
c.8250A>G (p.Leu2750=)
c.8085A>G (p.Leu2695=)
c.6234A>G (p.Leu2078=)
c.3924A>G (p.Leu1308=)
n.8623A>G
18g.23928684A>TCA402063969LAMA3c.3528A>T (p.Leu1176Phe)
c.8355A>T (p.Leu2785Phe)
c.4950A>T (p.Leu1650Phe)
c.8187A>T (p.Leu2729Phe)
c.3133A>T
c.3360A>T (p.Leu1120Phe)
c.60A>T (p.Leu20Phe)
n.2933A>T
c.8382A>T (p.Leu2794Phe)
c.8373A>T (p.Leu2791Phe)
c.8364A>T (p.Leu2788Phe)
c.8250A>T (p.Leu2750Phe)
c.8085A>T (p.Leu2695Phe)
c.6234A>T (p.Leu2078Phe)
c.3924A>T (p.Leu1308Phe)
n.8623A>T
18g.23928685C>ACA402063972LAMA3c.3529C>A (p.Pro1177Thr)
c.8356C>A (p.Pro2786Thr)
c.4951C>A (p.Pro1651Thr)
c.8188C>A (p.Pro2730Thr)
c.3134C>A
c.3361C>A (p.Pro1121Thr)
c.61C>A (p.Pro21Thr)
n.2934C>A
c.8383C>A (p.Pro2795Thr)
c.8374C>A (p.Pro2792Thr)
c.8365C>A (p.Pro2789Thr)
c.8251C>A (p.Pro2751Thr)
c.8086C>A (p.Pro2696Thr)
c.6235C>A (p.Pro2079Thr)
c.3925C>A (p.Pro1309Thr)
n.8624C>A
18g.23928685C>GCA402063973LAMA3c.3529C>G (p.Pro1177Ala)
c.8356C>G (p.Pro2786Ala)
c.4951C>G (p.Pro1651Ala)
c.8188C>G (p.Pro2730Ala)
c.3134C>G
c.3361C>G (p.Pro1121Ala)
c.61C>G (p.Pro21Ala)
n.2934C>G
c.8383C>G (p.Pro2795Ala)
c.8374C>G (p.Pro2792Ala)
c.8365C>G (p.Pro2789Ala)
c.8251C>G (p.Pro2751Ala)
c.8086C>G (p.Pro2696Ala)
c.6235C>G (p.Pro2079Ala)
c.3925C>G (p.Pro1309Ala)
n.8624C>G
18g.23928685C>TCA402063976LAMA3c.3529C>T (p.Pro1177Ser)
c.8356C>T (p.Pro2786Ser)
c.4951C>T (p.Pro1651Ser)
c.8188C>T (p.Pro2730Ser)
c.3134C>T
c.3361C>T (p.Pro1121Ser)
c.61C>T (p.Pro21Ser)
n.2934C>T
c.8383C>T (p.Pro2795Ser)
c.8374C>T (p.Pro2792Ser)
c.8365C>T (p.Pro2789Ser)
c.8251C>T (p.Pro2751Ser)
c.8086C>T (p.Pro2696Ser)
c.6235C>T (p.Pro2079Ser)
c.3925C>T (p.Pro1309Ser)
n.8624C>T

Number of alleles fetched