Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129464256T>CCA1094392693LAMA2c.6993-34T>C (n.6993-34T>C)
c.7257-34T>C (n.7257-34T>C)
n.624-34T>C
n.332-34T>C
c.6990-34T>C (n.6990-34T>C)
c.7251-34T>C (n.7251-34T>C)
c.7263-34T>C (n.7263-34T>C)
c.5388-34T>C (n.5388-34T>C)
 dbSNP gnomAD v3 gnomAD v4
6g.129464256T>GCA2680307367LAMA2c.6993-34T>G (n.6993-34T>G)
c.7257-34T>G (n.7257-34T>G)
n.624-34T>G
n.332-34T>G
c.6990-34T>G (n.6990-34T>G)
c.7251-34T>G (n.7251-34T>G)
c.7263-34T>G (n.7263-34T>G)
c.5388-34T>G (n.5388-34T>G)
 gnomAD v4
6g.129464256T=CA1663191387LAMA2c.6993-34T= (n.6993-34T=)
c.7257-34T= (n.7257-34T=)
n.624-34T=
n.332-34T=
c.6990-34T= (n.6990-34T=)
c.7251-34T= (n.7251-34T=)
c.7263-34T= (n.7263-34T=)
c.5388-34T= (n.5388-34T=)
6g.129464257G>TCA2680307368LAMA2c.6993-33G>T (n.6993-33G>T)
c.7257-33G>T (n.7257-33G>T)
n.624-33G>T
n.332-33G>T
c.6990-33G>T (n.6990-33G>T)
c.7251-33G>T (n.7251-33G>T)
c.7263-33G>T (n.7263-33G>T)
c.5388-33G>T (n.5388-33G>T)
 gnomAD v4
6g.129464258A>GCA2680307369LAMA2c.6993-32A>G (n.6993-32A>G)
c.7257-32A>G (n.7257-32A>G)
n.624-32A>G
n.332-32A>G
c.6990-32A>G (n.6990-32A>G)
c.7251-32A>G (n.7251-32A>G)
c.7263-32A>G (n.7263-32A>G)
c.5388-32A>G (n.5388-32A>G)
 gnomAD v4
6g.129464258A>TCA2680307371LAMA2c.6993-32A>T (n.6993-32A>T)
c.7257-32A>T (n.7257-32A>T)
n.624-32A>T
n.332-32A>T
c.6990-32A>T (n.6990-32A>T)
c.7251-32A>T (n.7251-32A>T)
c.7263-32A>T (n.7263-32A>T)
c.5388-32A>T (n.5388-32A>T)
 gnomAD v4
6g.129464259T>CCA818843583LAMA2c.6993-31T>C (n.6993-31T>C)
c.7257-31T>C (n.7257-31T>C)
n.624-31T>C
n.332-31T>C
c.6990-31T>C (n.6990-31T>C)
c.7251-31T>C (n.7251-31T>C)
c.7263-31T>C (n.7263-31T>C)
c.5388-31T>C (n.5388-31T>C)
 dbSNP gnomAD v4
6g.129464259T=CA1663191389LAMA2c.6993-31T= (n.6993-31T=)
c.7257-31T= (n.7257-31T=)
n.624-31T=
n.332-31T=
c.6990-31T= (n.6990-31T=)
c.7251-31T= (n.7251-31T=)
c.7263-31T= (n.7263-31T=)
c.5388-31T= (n.5388-31T=)
6g.129464260C>ACA2680307372LAMA2c.6993-30C>A (n.6993-30C>A)
c.7257-30C>A (n.7257-30C>A)
n.624-30C>A
n.332-30C>A
c.6990-30C>A (n.6990-30C>A)
c.7251-30C>A (n.7251-30C>A)
c.7263-30C>A (n.7263-30C>A)
c.5388-30C>A (n.5388-30C>A)
 gnomAD v4
6g.129464260C>TCA2680307373LAMA2c.6993-30C>T (n.6993-30C>T)
c.7257-30C>T (n.7257-30C>T)
n.624-30C>T
n.332-30C>T
c.6990-30C>T (n.6990-30C>T)
c.7251-30C>T (n.7251-30C>T)
c.7263-30C>T (n.7263-30C>T)
c.5388-30C>T (n.5388-30C>T)
 gnomAD v4
6g.129464261T>CCA1663191392LAMA2c.6993-29T>C (n.6993-29T>C)
c.7257-29T>C (n.7257-29T>C)
n.624-29T>C
n.332-29T>C
c.6990-29T>C (n.6990-29T>C)
c.7251-29T>C (n.7251-29T>C)
c.7263-29T>C (n.7263-29T>C)
c.5388-29T>C (n.5388-29T>C)
 dbSNP
6g.129464261T=CA1663191390LAMA2c.6993-29T= (n.6993-29T=)
c.7257-29T= (n.7257-29T=)
n.624-29T=
n.332-29T=
c.6990-29T= (n.6990-29T=)
c.7251-29T= (n.7251-29T=)
c.7263-29T= (n.7263-29T=)
c.5388-29T= (n.5388-29T=)
6g.129464262G>ACA1663191394LAMA2c.6993-28G>A (n.6993-28G>A)
c.7257-28G>A (n.7257-28G>A)
n.624-28G>A
n.332-28G>A
c.6990-28G>A (n.6990-28G>A)
c.7251-28G>A (n.7251-28G>A)
c.7263-28G>A (n.7263-28G>A)
c.5388-28G>A (n.5388-28G>A)
 dbSNP
6g.129464262G=CA1663191393LAMA2c.6993-28G= (n.6993-28G=)
c.7257-28G= (n.7257-28G=)
n.624-28G=
n.332-28G=
c.6990-28G= (n.6990-28G=)
c.7251-28G= (n.7251-28G=)
c.7263-28G= (n.7263-28G=)
c.5388-28G= (n.5388-28G=)
6g.129464262G>TCA2680307374LAMA2c.6993-28G>T (n.6993-28G>T)
c.7257-28G>T (n.7257-28G>T)
n.624-28G>T
n.332-28G>T
c.6990-28G>T (n.6990-28G>T)
c.7251-28G>T (n.7251-28G>T)
c.7263-28G>T (n.7263-28G>T)
c.5388-28G>T (n.5388-28G>T)
 gnomAD v4
6g.129464263A>GCA2680307375LAMA2c.6993-27A>G (n.6993-27A>G)
c.7257-27A>G (n.7257-27A>G)
n.624-27A>G
n.332-27A>G
c.6990-27A>G (n.6990-27A>G)
c.7251-27A>G (n.7251-27A>G)
c.7263-27A>G (n.7263-27A>G)
c.5388-27A>G (n.5388-27A>G)
 gnomAD v4
6g.129464264_129464265delCA2680307376LAMA2c.6993-26_6993-25del (n.6993-26_6993-25del)
c.7257-26_7257-25del (n.7257-26_7257-25del)
n.624-26_624-25del
n.332-26_332-25del
c.6990-26_6990-25del (n.6990-26_6990-25del)
c.7251-26_7251-25del (n.7251-26_7251-25del)
c.7263-26_7263-25del (n.7263-26_7263-25del)
c.5388-26_5388-25del (n.5388-26_5388-25del)
 gnomAD v4
6g.129464265T>CCA2680307377LAMA2c.6993-25T>C (n.6993-25T>C)
c.7257-25T>C (n.7257-25T>C)
n.624-25T>C
n.332-25T>C
c.6990-25T>C (n.6990-25T>C)
c.7251-25T>C (n.7251-25T>C)
c.7263-25T>C (n.7263-25T>C)
c.5388-25T>C (n.5388-25T>C)
 gnomAD v4
6g.129464266C>ACA2680307378LAMA2c.6993-24C>A (n.6993-24C>A)
c.7257-24C>A (n.7257-24C>A)
n.624-24C>A
n.332-24C>A
c.6990-24C>A (n.6990-24C>A)
c.7251-24C>A (n.7251-24C>A)
c.7263-24C>A (n.7263-24C>A)
c.5388-24C>A (n.5388-24C>A)
 gnomAD v4
6g.129464266C>TCA2680307379LAMA2c.6993-24C>T (n.6993-24C>T)
c.7257-24C>T (n.7257-24C>T)
n.624-24C>T
n.332-24C>T
c.6990-24C>T (n.6990-24C>T)
c.7251-24C>T (n.7251-24C>T)
c.7263-24C>T (n.7263-24C>T)
c.5388-24C>T (n.5388-24C>T)
 gnomAD v4
6g.129464267A=CA1663191395LAMA2c.6993-23A= (n.6993-23A=)
c.7257-23A= (n.7257-23A=)
n.624-23A=
n.332-23A=
c.6990-23A= (n.6990-23A=)
c.7251-23A= (n.7251-23A=)
c.7263-23A= (n.7263-23A=)
c.5388-23A= (n.5388-23A=)
6g.129464267A>GCA2680307380LAMA2c.6993-23A>G (n.6993-23A>G)
c.7257-23A>G (n.7257-23A>G)
n.624-23A>G
n.332-23A>G
c.6990-23A>G (n.6990-23A>G)
c.7251-23A>G (n.7251-23A>G)
c.7263-23A>G (n.7263-23A>G)
c.5388-23A>G (n.5388-23A>G)
 gnomAD v4
6g.129464267A>TCA3994414LAMA2c.6993-23A>T (n.6993-23A>T)
c.7257-23A>T (n.7257-23A>T)
n.624-23A>T
n.332-23A>T
c.6990-23A>T (n.6990-23A>T)
c.7251-23A>T (n.7251-23A>T)
c.7263-23A>T (n.7263-23A>T)
c.5388-23A>T (n.5388-23A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464268T>CCA3994415LAMA2c.6993-22T>C (n.6993-22T>C)
c.7257-22T>C (n.7257-22T>C)
n.624-22T>C
n.332-22T>C
c.6990-22T>C (n.6990-22T>C)
c.7251-22T>C (n.7251-22T>C)
c.7263-22T>C (n.7263-22T>C)
c.5388-22T>C (n.5388-22T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129464268T=CA1663191397LAMA2c.6993-22T= (n.6993-22T=)
c.7257-22T= (n.7257-22T=)
n.624-22T=
n.332-22T=
c.6990-22T= (n.6990-22T=)
c.7251-22T= (n.7251-22T=)
c.7263-22T= (n.7263-22T=)
c.5388-22T= (n.5388-22T=)
6g.129464269G>ACA818843607LAMA2c.6993-21G>A (n.6993-21G>A)
c.7257-21G>A (n.7257-21G>A)
n.624-21G>A
n.332-21G>A
c.6990-21G>A (n.6990-21G>A)
c.7251-21G>A (n.7251-21G>A)
c.7263-21G>A (n.7263-21G>A)
c.5388-21G>A (n.5388-21G>A)
 dbSNP gnomAD v4
6g.129464269G=CA1663191399LAMA2c.6993-21G= (n.6993-21G=)
c.7257-21G= (n.7257-21G=)
n.624-21G=
n.332-21G=
c.6990-21G= (n.6990-21G=)
c.7251-21G= (n.7251-21G=)
c.7263-21G= (n.7263-21G=)
c.5388-21G= (n.5388-21G=)
6g.129464271G>ACA2680307384LAMA2c.6993-19G>A (n.6993-19G>A)
c.7257-19G>A (n.7257-19G>A)
n.624-19G>A
n.332-19G>A
c.6990-19G>A (n.6990-19G>A)
c.7251-19G>A (n.7251-19G>A)
c.7263-19G>A (n.7263-19G>A)
c.5388-19G>A (n.5388-19G>A)
 ClinVar gnomAD v4
6g.129464271G>TCA2680307386LAMA2c.6993-19G>T (n.6993-19G>T)
c.7257-19G>T (n.7257-19G>T)
n.624-19G>T
n.332-19G>T
c.6990-19G>T (n.6990-19G>T)
c.7251-19G>T (n.7251-19G>T)
c.7263-19G>T (n.7263-19G>T)
c.5388-19G>T (n.5388-19G>T)
 gnomAD v4
6g.129464272A>GCA2697553710LAMA2c.6993-18A>G (n.6993-18A>G)
c.7257-18A>G (n.7257-18A>G)
n.624-18A>G
n.332-18A>G
c.6990-18A>G (n.6990-18A>G)
c.7251-18A>G (n.7251-18A>G)
c.7263-18A>G (n.7263-18A>G)
c.5388-18A>G (n.5388-18A>G)
 ClinVar
6g.129464274A>GCA2739266119LAMA2c.6993-16A>G (n.6993-16A>G)
c.7257-16A>G (n.7257-16A>G)
n.624-16A>G
n.332-16A>G
c.6990-16A>G (n.6990-16A>G)
c.7251-16A>G (n.7251-16A>G)
c.7263-16A>G (n.7263-16A>G)
c.5388-16A>G (n.5388-16A>G)
 ClinVar
6g.129464276G>ACA2580074974LAMA2c.6993-14G>A (n.6993-14G>A)
c.7257-14G>A (n.7257-14G>A)
n.624-14G>A
n.332-14G>A
c.6990-14G>A (n.6990-14G>A)
c.7251-14G>A (n.7251-14G>A)
c.7263-14G>A (n.7263-14G>A)
c.5388-14G>A (n.5388-14G>A)
 ClinVar gnomAD v4
6g.129464276_129464278delinsGTCCA1663191400LAMA2c.6993-14_6993-12delinsGTC (n.6993-14_6993-12delinsGTC)
c.7257-14_7257-12delinsGTC (n.7257-14_7257-12delinsGTC)
n.624-14_624-12delinsGTC
n.332-14_332-12delinsGTC
c.6990-14_6990-12delinsGTC (n.6990-14_6990-12delinsGTC)
c.7251-14_7251-12delinsGTC (n.7251-14_7251-12delinsGTC)
c.7263-14_7263-12delinsGTC (n.7263-14_7263-12delinsGTC)
c.5388-14_5388-12delinsGTC (n.5388-14_5388-12delinsGTC)
6g.129464277T>ACA570205679LAMA2c.6993-13T>A (n.6993-13T>A)
c.7257-13T>A (n.7257-13T>A)
n.624-13T>A
n.332-13T>A
c.6990-13T>A (n.6990-13T>A)
c.7251-13T>A (n.7251-13T>A)
c.7263-13T>A (n.7263-13T>A)
c.5388-13T>A (n.5388-13T>A)
 dbSNP gnomAD v2 gnomAD v4
6g.129464277T=CA1663191402LAMA2c.6993-13T= (n.6993-13T=)
c.7257-13T= (n.7257-13T=)
n.624-13T=
n.332-13T=
c.6990-13T= (n.6990-13T=)
c.7251-13T= (n.7251-13T=)
c.7263-13T= (n.7263-13T=)
c.5388-13T= (n.5388-13T=)
6g.129464282_129464283delCA146891251LAMA2c.6993-8_6993-7del (n.6993-8_6993-7del)
c.7257-8_7257-7del (n.7257-8_7257-7del)
n.624-8_624-7del
n.332-8_332-7del
c.6990-8_6990-7del (n.6990-8_6990-7del)
c.7251-8_7251-7del (n.7251-8_7251-7del)
c.7263-8_7263-7del (n.7263-8_7263-7del)
c.5388-8_5388-7del (n.5388-8_5388-7del)
 dbSNP gnomAD v4
6g.129464278C>ACA2680307400LAMA2c.6993-12C>A (n.6993-12C>A)
c.7257-12C>A (n.7257-12C>A)
n.624-12C>A
n.332-12C>A
c.6990-12C>A (n.6990-12C>A)
c.7251-12C>A (n.7251-12C>A)
c.7263-12C>A (n.7263-12C>A)
c.5388-12C>A (n.5388-12C>A)
 gnomAD v4
6g.129464278C=CA1663191406LAMA2c.6993-12C= (n.6993-12C=)
c.7257-12C= (n.7257-12C=)
n.624-12C=
n.332-12C=
c.6990-12C= (n.6990-12C=)
c.7251-12C= (n.7251-12C=)
c.7263-12C= (n.7263-12C=)
c.5388-12C= (n.5388-12C=)
6g.129464278C>GCA1663191405LAMA2c.6993-12C>G (n.6993-12C>G)
c.7257-12C>G (n.7257-12C>G)
n.624-12C>G
n.332-12C>G
c.6990-12C>G (n.6990-12C>G)
c.7251-12C>G (n.7251-12C>G)
c.7263-12C>G (n.7263-12C>G)
c.5388-12C>G (n.5388-12C>G)
 dbSNP
6g.129464278_129464283delinsCTCTCTCA1663191404LAMA2c.6993-12_6993-7delinsCTCTCT (n.6993-12_6993-7delinsCTCTCT)
c.7257-12_7257-7delinsCTCTCT (n.7257-12_7257-7delinsCTCTCT)
n.624-12_624-7delinsCTCTCT
n.332-12_332-7delinsCTCTCT
c.6990-12_6990-7delinsCTCTCT (n.6990-12_6990-7delinsCTCTCT)
c.7251-12_7251-7delinsCTCTCT (n.7251-12_7251-7delinsCTCTCT)
c.7263-12_7263-7delinsCTCTCT (n.7263-12_7263-7delinsCTCTCT)
c.5388-12_5388-7delinsCTCTCT (n.5388-12_5388-7delinsCTCTCT)
6g.129464279T>GCA2680307408LAMA2c.6993-11T>G (n.6993-11T>G)
c.7257-11T>G (n.7257-11T>G)
n.624-11T>G
n.332-11T>G
c.6990-11T>G (n.6990-11T>G)
c.7251-11T>G (n.7251-11T>G)
c.7263-11T>G (n.7263-11T>G)
c.5388-11T>G (n.5388-11T>G)
 ClinVar gnomAD v4
6g.129464283_129464287delCA570205680LAMA2c.6993-7_6993-3del (n.6993-7_6993-3del)
c.7257-7_7257-3del (n.7257-7_7257-3del)
n.624-7_624-3del
n.332-7_332-3del
c.6990-7_6990-3del (n.6990-7_6990-3del)
c.7251-7_7251-3del (n.7251-7_7251-3del)
c.7263-7_7263-3del (n.7263-7_7263-3del)
c.5388-7_5388-3del (n.5388-7_5388-3del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129464280C>ACA2680307414LAMA2c.6993-10C>A (n.6993-10C>A)
c.7257-10C>A (n.7257-10C>A)
n.624-10C>A
n.332-10C>A
c.6990-10C>A (n.6990-10C>A)
c.7251-10C>A (n.7251-10C>A)
c.7263-10C>A (n.7263-10C>A)
c.5388-10C>A (n.5388-10C>A)
 gnomAD v4
6g.129464282C>ACA2680307415LAMA2c.6993-8C>A (n.6993-8C>A)
c.7257-8C>A (n.7257-8C>A)
n.624-8C>A
n.332-8C>A
c.6990-8C>A (n.6990-8C>A)
c.7251-8C>A (n.7251-8C>A)
c.7263-8C>A (n.7263-8C>A)
c.5388-8C>A (n.5388-8C>A)
 gnomAD v4
6g.129464283_129464284delCA2713030423LAMA2c.6993-7_6993-6del (n.6993-7_6993-6del)
c.7257-7_7257-6del (n.7257-7_7257-6del)
n.624-7_624-6del
n.332-7_332-6del
c.6990-7_6990-6del (n.6990-7_6990-6del)
c.7251-7_7251-6del (n.7251-7_7251-6del)
c.7263-7_7263-6del (n.7263-7_7263-6del)
c.5388-7_5388-6del (n.5388-7_5388-6del)
 dbSNP
6g.129464284T>GCA570205681LAMA2c.6993-6T>G (n.6993-6T>G)
c.7257-6T>G (n.7257-6T>G)
n.624-6T>G
n.332-6T>G
c.6990-6T>G (n.6990-6T>G)
c.7251-6T>G (n.7251-6T>G)
c.7263-6T>G (n.7263-6T>G)
c.5388-6T>G (n.5388-6T>G)
 dbSNP gnomAD v2
6g.129464284T=CA1663191409LAMA2c.6993-6T= (n.6993-6T=)
c.7257-6T= (n.7257-6T=)
n.624-6T=
n.332-6T=
c.6990-6T= (n.6990-6T=)
c.7251-6T= (n.7251-6T=)
c.7263-6T= (n.7263-6T=)
c.5388-6T= (n.5388-6T=)
6g.129464290_129464296delCA818843626LAMA2c.6993_6999del
c.7257_7263del
n.624_630del
n.332_338del
c.6990_6996del
c.7251_7257del
c.7263_7269del
c.5388_5394del
 ClinVar gnomAD v4
6g.129464286T>CCA1663191410LAMA2c.6993-4T>C (n.6993-4T>C)
c.7257-4T>C (n.7257-4T>C)
n.624-4T>C
n.332-4T>C
c.6990-4T>C (n.6990-4T>C)
c.7251-4T>C (n.7251-4T>C)
c.7263-4T>C (n.7263-4T>C)
c.5388-4T>C (n.5388-4T>C)
 dbSNP
6g.129464286T=CA1663191412LAMA2c.6993-4T= (n.6993-4T=)
c.7257-4T= (n.7257-4T=)
n.624-4T=
n.332-4T=
c.6990-4T= (n.6990-4T=)
c.7251-4T= (n.7251-4T=)
c.7263-4T= (n.7263-4T=)
c.5388-4T= (n.5388-4T=)
6g.129464287C>ACA2521332972LAMA2c.6993-3C>A (n.6993-3C>A)
c.7257-3C>A (n.7257-3C>A)
n.624-3C>A
n.332-3C>A
c.6990-3C>A (n.6990-3C>A)
c.7251-3C>A (n.7251-3C>A)
c.7263-3C>A (n.7263-3C>A)
c.5388-3C>A (n.5388-3C>A)
6g.129464287C=CA1663191415LAMA2c.6993-3C= (n.6993-3C=)
c.7257-3C= (n.7257-3C=)
n.624-3C=
n.332-3C=
c.6990-3C= (n.6990-3C=)
c.7251-3C= (n.7251-3C=)
c.7263-3C= (n.7263-3C=)
c.5388-3C= (n.5388-3C=)
6g.129464287C>TCA1663191414LAMA2c.6993-3C>T (n.6993-3C>T)
c.7257-3C>T (n.7257-3C>T)
n.624-3C>T
n.332-3C>T
c.6990-3C>T (n.6990-3C>T)
c.7251-3C>T (n.7251-3C>T)
c.7263-3C>T (n.7263-3C>T)
c.5388-3C>T (n.5388-3C>T)
 dbSNP
6g.129464288A=CA1663191417LAMA2c.6993-2A= (n.6993-2A=)
c.7257-2A= (n.7257-2A=)
n.624-2A=
n.332-2A=
c.6990-2A= (n.6990-2A=)
c.7251-2A= (n.7251-2A=)
c.7263-2A= (n.7263-2A=)
c.5388-2A= (n.5388-2A=)
6g.129464288A>CCA3994416LAMA2c.6993-2A>C (n.6993-2A>C)
c.7257-2A>C (n.7257-2A>C)
n.624-2A>C
n.332-2A>C
c.6990-2A>C (n.6990-2A>C)
c.7251-2A>C (n.7251-2A>C)
c.7263-2A>C (n.7263-2A>C)
c.5388-2A>C (n.5388-2A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464288A>GCA365619809LAMA2c.6993-2A>G (n.6993-2A>G)
c.7257-2A>G (n.7257-2A>G)
n.624-2A>G
n.332-2A>G
c.6990-2A>G (n.6990-2A>G)
c.7251-2A>G (n.7251-2A>G)
c.7263-2A>G (n.7263-2A>G)
c.5388-2A>G (n.5388-2A>G)
 ClinVar dbSNP gnomAD v4
6g.129464288A>TCA365619819LAMA2c.6993-2A>T (n.6993-2A>T)
c.7257-2A>T (n.7257-2A>T)
n.624-2A>T
n.332-2A>T
c.6990-2A>T (n.6990-2A>T)
c.7251-2A>T (n.7251-2A>T)
c.7263-2A>T (n.7263-2A>T)
c.5388-2A>T (n.5388-2A>T)
6g.129464288_129464451delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTCA1663191420LAMA2c.6993-2_7154delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
c.7257-2_7418delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
n.624-2_785delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
n.332-2_493delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
c.6990-2_7151delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
c.7251-2_7412delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
c.7263-2_7424delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
c.5388-2_5549delinsAGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT
6g.129464289G>ACA365619823LAMA2c.6993-1G>A (n.6993-1G>A)
c.7257-1G>A (n.7257-1G>A)
n.624-1G>A
n.332-1G>A
c.6990-1G>A (n.6990-1G>A)
c.7251-1G>A (n.7251-1G>A)
c.7263-1G>A (n.7263-1G>A)
c.5388-1G>A (n.5388-1G>A)
6g.129464289G>CCA365619825LAMA2c.6993-1G>C (n.6993-1G>C)
c.7257-1G>C (n.7257-1G>C)
n.624-1G>C
n.332-1G>C
c.6990-1G>C (n.6990-1G>C)
c.7251-1G>C (n.7251-1G>C)
c.7263-1G>C (n.7263-1G>C)
c.5388-1G>C (n.5388-1G>C)
6g.129464289G>TCA365619827LAMA2c.6993-1G>T (n.6993-1G>T)
c.7257-1G>T (n.7257-1G>T)
n.624-1G>T
n.332-1G>T
c.6990-1G>T (n.6990-1G>T)
c.7251-1G>T (n.7251-1G>T)
c.7263-1G>T (n.7263-1G>T)
c.5388-1G>T (n.5388-1G>T)
6g.129464290_129464452delCA10588988LAMA2c.6993_7155del
c.7257_7419del
n.624_786del
n.332_494del
c.6990_7152del
c.7251_7413del
c.7263_7425del
c.5388_5550del
 ClinVar dbSNP
6g.129464290T>ACA365619831LAMA2c.6993T>A (p.Ser2331Arg)
c.7257T>A (p.Ser2419Arg)
n.624T>A
n.332T>A
c.6990T>A (p.Ser2330Arg)
c.7251T>A (p.Ser2417Arg)
c.7263T>A (p.Ser2421Arg)
c.5388T>A (p.Ser1796Arg)
6g.129464290T>CCA451925551LAMA2c.6993T>C (p.Ser2331=)
c.7257T>C (p.Ser2419=)
n.624T>C
n.332T>C
c.6990T>C (p.Ser2330=)
c.7251T>C (p.Ser2417=)
c.7263T>C (p.Ser2421=)
c.5388T>C (p.Ser1796=)
6g.129464290T>GCA365619832LAMA2c.6993T>G (p.Ser2331Arg)
c.7257T>G (p.Ser2419Arg)
n.624T>G
n.332T>G
c.6990T>G (p.Ser2330Arg)
c.7251T>G (p.Ser2417Arg)
c.7263T>G (p.Ser2421Arg)
c.5388T>G (p.Ser1796Arg)
6g.129464292_129464294delCA2680307427LAMA2c.6995_6997del (p.Pro2332del)
c.7259_7261del (p.Pro2420del)
n.626_628del
n.334_336del
c.6992_6994del (p.Pro2331del)
c.7253_7255del (p.Pro2418del)
c.7265_7267del (p.Pro2422del)
c.5390_5392del (p.Pro1797del)
 gnomAD v4
6g.129464291C>ACA365619833LAMA2c.6994C>A (p.Pro2332Thr)
c.7258C>A (p.Pro2420Thr)
n.625C>A
n.333C>A
c.6991C>A (p.Pro2331Thr)
c.7252C>A (p.Pro2418Thr)
c.7264C>A (p.Pro2422Thr)
c.5389C>A (p.Pro1797Thr)
 gnomAD v4
6g.129464291C>GCA365619835LAMA2c.6994C>G (p.Pro2332Ala)
c.7258C>G (p.Pro2420Ala)
n.625C>G
n.333C>G
c.6991C>G (p.Pro2331Ala)
c.7252C>G (p.Pro2418Ala)
c.7264C>G (p.Pro2422Ala)
c.5389C>G (p.Pro1797Ala)
6g.129464291C>TCA365619837LAMA2c.6994C>T (p.Pro2332Ser)
c.7258C>T (p.Pro2420Ser)
n.625C>T
n.333C>T
c.6991C>T (p.Pro2331Ser)
c.7252C>T (p.Pro2418Ser)
c.7264C>T (p.Pro2422Ser)
c.5389C>T (p.Pro1797Ser)
6g.129464292delCA2695206951LAMA2c.6995del (p.Pro2332LeufsTer?)
c.7259del (p.Pro2420LeufsTer?)
n.626del
n.334del
c.6992del (p.Pro2331LeufsTer?)
c.7253del (p.Pro2418LeufsTer?)
c.7265del (p.Pro2422LeufsTer?)
c.5390del (p.Pro1797LeufsTer?)
6g.129464292C>ACA365619843LAMA2c.6995C>A (p.Pro2332His)
c.7259C>A (p.Pro2420His)
n.626C>A
n.334C>A
c.6992C>A (p.Pro2331His)
c.7253C>A (p.Pro2418His)
c.7265C>A (p.Pro2422His)
c.5390C>A (p.Pro1797His)
6g.129464292C=CA1663191428LAMA2c.6995C= (p.Pro2332=)
c.7259C= (p.Pro2420=)
n.626C=
n.334C=
c.6992C= (p.Pro2331=)
c.7253C= (p.Pro2418=)
c.7265C= (p.Pro2422=)
c.5390C= (p.Pro1797=)
6g.129464292C>GCA365619839LAMA2c.6995C>G (p.Pro2332Arg)
c.7259C>G (p.Pro2420Arg)
n.626C>G
n.334C>G
c.6992C>G (p.Pro2331Arg)
c.7253C>G (p.Pro2418Arg)
c.7265C>G (p.Pro2422Arg)
c.5390C>G (p.Pro1797Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.129464292C>TCA365619840LAMA2c.6995C>T (p.Pro2332Leu)
c.7259C>T (p.Pro2420Leu)
n.626C>T
n.334C>T
c.6992C>T (p.Pro2331Leu)
c.7253C>T (p.Pro2418Leu)
c.7265C>T (p.Pro2422Leu)
c.5390C>T (p.Pro1797Leu)
 dbSNP gnomAD v4
6g.129464293T>ACA3994417LAMA2c.6996T>A (p.Pro2332=)
c.7260T>A (p.Pro2420=)
n.627T>A
n.335T>A
c.6993T>A (p.Pro2331=)
c.7254T>A (p.Pro2418=)
c.7266T>A (p.Pro2422=)
c.5391T>A (p.Pro1797=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464293T>CCA451925570LAMA2c.6996T>C (p.Pro2332=)
c.7260T>C (p.Pro2420=)
n.627T>C
n.335T>C
c.6993T>C (p.Pro2331=)
c.7254T>C (p.Pro2418=)
c.7266T>C (p.Pro2422=)
c.5391T>C (p.Pro1797=)
6g.129464293T>GCA451925571LAMA2c.6996T>G (p.Pro2332=)
c.7260T>G (p.Pro2420=)
n.627T>G
n.335T>G
c.6993T>G (p.Pro2331=)
c.7254T>G (p.Pro2418=)
c.7266T>G (p.Pro2422=)
c.5391T>G (p.Pro1797=)
6g.129464293T=CA1663191431LAMA2c.6996T= (p.Pro2332=)
c.7260T= (p.Pro2420=)
n.627T=
n.335T=
c.6993T= (p.Pro2331=)
c.7254T= (p.Pro2418=)
c.7266T= (p.Pro2422=)
c.5391T= (p.Pro1797=)
6g.129464294C>ACA365619847LAMA2c.6997C>A (p.Gln2333Lys)
c.7261C>A (p.Gln2421Lys)
n.628C>A
n.336C>A
c.6994C>A (p.Gln2332Lys)
c.7255C>A (p.Gln2419Lys)
c.7267C>A (p.Gln2423Lys)
c.5392C>A (p.Gln1798Lys)
6g.129464294C=CA1663191435LAMA2c.6997C= (p.Gln2333=)
c.7261C= (p.Gln2421=)
n.628C=
n.336C=
c.6994C= (p.Gln2332=)
c.7255C= (p.Gln2419=)
c.7267C= (p.Gln2423=)
c.5392C= (p.Gln1798=)
6g.129464294C>GCA3994418LAMA2c.6997C>G (p.Gln2333Glu)
c.7261C>G (p.Gln2421Glu)
n.628C>G
n.336C>G
c.6994C>G (p.Gln2332Glu)
c.7255C>G (p.Gln2419Glu)
c.7267C>G (p.Gln2423Glu)
c.5392C>G (p.Gln1798Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464294C>TCA365619850LAMA2c.6997C>T (p.Gln2333Ter)
c.7261C>T (p.Gln2421Ter)
n.628C>T
n.336C>T
c.6994C>T (p.Gln2332Ter)
c.7255C>T (p.Gln2419Ter)
c.7267C>T (p.Gln2423Ter)
c.5392C>T (p.Gln1798Ter)
6g.129464295A=CA1663191437LAMA2c.6998A= (p.Gln2333=)
c.7262A= (p.Gln2421=)
n.629A=
n.337A=
c.6995A= (p.Gln2332=)
c.7256A= (p.Gln2419=)
c.7268A= (p.Gln2423=)
c.5393A= (p.Gln1798=)
6g.129464295A>CCA365619852LAMA2c.6998A>C (p.Gln2333Pro)
c.7262A>C (p.Gln2421Pro)
n.629A>C
n.337A>C
c.6995A>C (p.Gln2332Pro)
c.7256A>C (p.Gln2419Pro)
c.7268A>C (p.Gln2423Pro)
c.5393A>C (p.Gln1798Pro)
6g.129464295A>GCA146891258LAMA2c.6998A>G (p.Gln2333Arg)
c.7262A>G (p.Gln2421Arg)
n.629A>G
n.337A>G
c.6995A>G (p.Gln2332Arg)
c.7256A>G (p.Gln2419Arg)
c.7268A>G (p.Gln2423Arg)
c.5393A>G (p.Gln1798Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.129464295A>TCA365619855LAMA2c.6998A>T (p.Gln2333Leu)
c.7262A>T (p.Gln2421Leu)
n.629A>T
n.337A>T
c.6995A>T (p.Gln2332Leu)
c.7256A>T (p.Gln2419Leu)
c.7268A>T (p.Gln2423Leu)
c.5393A>T (p.Gln1798Leu)
6g.129464296G>ACA451925578LAMA2c.6999G>A (p.Gln2333=)
c.7263G>A (p.Gln2421=)
n.630G>A
n.338G>A
c.6996G>A (p.Gln2332=)
c.7257G>A (p.Gln2419=)
c.7269G>A (p.Gln2423=)
c.5394G>A (p.Gln1798=)
 ClinVar dbSNP
6g.129464296G>CCA365619859LAMA2c.6999G>C (p.Gln2333His)
c.7263G>C (p.Gln2421His)
n.630G>C
n.338G>C
c.6996G>C (p.Gln2332His)
c.7257G>C (p.Gln2419His)
c.7269G>C (p.Gln2423His)
c.5394G>C (p.Gln1798His)
6g.129464296G=CA1663191441LAMA2c.6999G= (p.Gln2333=)
c.7263G= (p.Gln2421=)
n.630G=
n.338G=
c.6996G= (p.Gln2332=)
c.7257G= (p.Gln2419=)
c.7269G= (p.Gln2423=)
c.5394G= (p.Gln1798=)
6g.129464296G>TCA365619861LAMA2c.6999G>T (p.Gln2333His)
c.7263G>T (p.Gln2421His)
n.630G>T
n.338G>T
c.6996G>T (p.Gln2332His)
c.7257G>T (p.Gln2419His)
c.7269G>T (p.Gln2423His)
c.5394G>T (p.Gln1798His)
6g.129464297G>ACA365619863LAMA2c.7000G>A (p.Val2334Met)
c.7264G>A (p.Val2422Met)
n.631G>A
n.339G>A
c.6997G>A (p.Val2333Met)
c.7258G>A (p.Val2420Met)
c.7270G>A (p.Val2424Met)
c.5395G>A (p.Val1799Met)
 gnomAD v4
6g.129464297G>CCA365619865LAMA2c.7000G>C (p.Val2334Leu)
c.7264G>C (p.Val2422Leu)
n.631G>C
n.339G>C
c.6997G>C (p.Val2333Leu)
c.7258G>C (p.Val2420Leu)
c.7270G>C (p.Val2424Leu)
c.5395G>C (p.Val1799Leu)
6g.129464297G>TCA365619868LAMA2c.7000G>T (p.Val2334Leu)
c.7264G>T (p.Val2422Leu)
n.631G>T
n.339G>T
c.6997G>T (p.Val2333Leu)
c.7258G>T (p.Val2420Leu)
c.7270G>T (p.Val2424Leu)
c.5395G>T (p.Val1799Leu)
6g.129464298T>ACA365619873LAMA2c.7001T>A (p.Val2334Glu)
c.7265T>A (p.Val2422Glu)
n.632T>A
n.340T>A
c.6998T>A (p.Val2333Glu)
c.7259T>A (p.Val2420Glu)
c.7271T>A (p.Val2424Glu)
c.5396T>A (p.Val1799Glu)
6g.129464298T>CCA365619874LAMA2c.7001T>C (p.Val2334Ala)
c.7265T>C (p.Val2422Ala)
n.632T>C
n.340T>C
c.6998T>C (p.Val2333Ala)
c.7259T>C (p.Val2420Ala)
c.7271T>C (p.Val2424Ala)
c.5396T>C (p.Val1799Ala)
6g.129464298T>GCA365619870LAMA2c.7001T>G (p.Val2334Gly)
c.7265T>G (p.Val2422Gly)
n.632T>G
n.340T>G
c.6998T>G (p.Val2333Gly)
c.7259T>G (p.Val2420Gly)
c.7271T>G (p.Val2424Gly)
c.5396T>G (p.Val1799Gly)
6g.129464299G>ACA451925592LAMA2c.7002G>A (p.Val2334=)
c.7266G>A (p.Val2422=)
n.633G>A
n.341G>A
c.6999G>A (p.Val2333=)
c.7260G>A (p.Val2420=)
c.7272G>A (p.Val2424=)
c.5397G>A (p.Val1799=)
 ClinVar
6g.129464299G>CCA451925595LAMA2c.7002G>C (p.Val2334=)
c.7266G>C (p.Val2422=)
n.633G>C
n.341G>C
c.6999G>C (p.Val2333=)
c.7260G>C (p.Val2420=)
c.7272G>C (p.Val2424=)
c.5397G>C (p.Val1799=)
6g.129464299G>TCA451925599LAMA2c.7002G>T (p.Val2334=)
c.7266G>T (p.Val2422=)
n.633G>T
n.341G>T
c.6999G>T (p.Val2333=)
c.7260G>T (p.Val2420=)
c.7272G>T (p.Val2424=)
c.5397G>T (p.Val1799=)
6g.129464300delCA2695198335LAMA2c.7003del (p.Glu2335LysfsTer?)
c.7267del (p.Glu2423LysfsTer?)
n.634del
n.342del
c.7000del (p.Glu2334LysfsTer?)
c.7261del (p.Glu2421LysfsTer?)
c.7273del (p.Glu2425LysfsTer?)
c.5398del (p.Glu1800LysfsTer?)
 ClinVar
6g.129464300G>ACA146891259LAMA2c.7003G>A (p.Glu2335Lys)
c.7267G>A (p.Glu2423Lys)
n.634G>A
n.342G>A
c.7000G>A (p.Glu2334Lys)
c.7261G>A (p.Glu2421Lys)
c.7273G>A (p.Glu2425Lys)
c.5398G>A (p.Glu1800Lys)
 dbSNP COSMIC
6g.129464300G>CCA365619876LAMA2c.7003G>C (p.Glu2335Gln)
c.7267G>C (p.Glu2423Gln)
n.634G>C
n.342G>C
c.7000G>C (p.Glu2334Gln)
c.7261G>C (p.Glu2421Gln)
c.7273G>C (p.Glu2425Gln)
c.5398G>C (p.Glu1800Gln)
6g.129464300G=CA1663191442LAMA2c.7003G= (p.Glu2335=)
c.7267G= (p.Glu2423=)
n.634G=
n.342G=
c.7000G= (p.Glu2334=)
c.7261G= (p.Glu2421=)
c.7273G= (p.Glu2425=)
c.5398G= (p.Glu1800=)
6g.129464300G>TCA365619879LAMA2c.7003G>T (p.Glu2335Ter)
c.7267G>T (p.Glu2423Ter)
n.634G>T
n.342G>T
c.7000G>T (p.Glu2334Ter)
c.7261G>T (p.Glu2421Ter)
c.7273G>T (p.Glu2425Ter)
c.5398G>T (p.Glu1800Ter)
6g.129464301A>CCA365619881LAMA2c.7004A>C (p.Glu2335Ala)
c.7268A>C (p.Glu2423Ala)
n.635A>C
n.343A>C
c.7001A>C (p.Glu2334Ala)
c.7262A>C (p.Glu2421Ala)
c.7274A>C (p.Glu2425Ala)
c.5399A>C (p.Glu1800Ala)
6g.129464301A>GCA365619883LAMA2c.7004A>G (p.Glu2335Gly)
c.7268A>G (p.Glu2423Gly)
n.635A>G
n.343A>G
c.7001A>G (p.Glu2334Gly)
c.7262A>G (p.Glu2421Gly)
c.7274A>G (p.Glu2425Gly)
c.5399A>G (p.Glu1800Gly)
6g.129464301A>TCA365619885LAMA2c.7004A>T (p.Glu2335Val)
c.7268A>T (p.Glu2423Val)
n.635A>T
n.343A>T
c.7001A>T (p.Glu2334Val)
c.7262A>T (p.Glu2421Val)
c.7274A>T (p.Glu2425Val)
c.5399A>T (p.Glu1800Val)
6g.129464302A>CCA365619888LAMA2c.7005A>C (p.Glu2335Asp)
c.7269A>C (p.Glu2423Asp)
n.636A>C
n.344A>C
c.7002A>C (p.Glu2334Asp)
c.7263A>C (p.Glu2421Asp)
c.7275A>C (p.Glu2425Asp)
c.5400A>C (p.Glu1800Asp)
6g.129464302A>GCA451925614LAMA2c.7005A>G (p.Glu2335=)
c.7269A>G (p.Glu2423=)
n.636A>G
n.344A>G
c.7002A>G (p.Glu2334=)
c.7263A>G (p.Glu2421=)
c.7275A>G (p.Glu2425=)
c.5400A>G (p.Glu1800=)
 ClinVar gnomAD v4
6g.129464302A>TCA365619890LAMA2c.7005A>T (p.Glu2335Asp)
c.7269A>T (p.Glu2423Asp)
n.636A>T
n.344A>T
c.7002A>T (p.Glu2334Asp)
c.7263A>T (p.Glu2421Asp)
c.7275A>T (p.Glu2425Asp)
c.5400A>T (p.Glu1800Asp)
6g.129464303G>ACA365619892LAMA2c.7006G>A (p.Asp2336Asn)
c.7270G>A (p.Asp2424Asn)
n.637G>A
n.345G>A
c.7003G>A (p.Asp2335Asn)
c.7264G>A (p.Asp2422Asn)
c.7276G>A (p.Asp2426Asn)
c.5401G>A (p.Asp1801Asn)
6g.129464303G>CCA365619895LAMA2c.7006G>C (p.Asp2336His)
c.7270G>C (p.Asp2424His)
n.637G>C
n.345G>C
c.7003G>C (p.Asp2335His)
c.7264G>C (p.Asp2422His)
c.7276G>C (p.Asp2426His)
c.5401G>C (p.Asp1801His)
6g.129464303G>TCA365619897LAMA2c.7006G>T (p.Asp2336Tyr)
c.7270G>T (p.Asp2424Tyr)
n.637G>T
n.345G>T
c.7003G>T (p.Asp2335Tyr)
c.7264G>T (p.Asp2422Tyr)
c.7276G>T (p.Asp2426Tyr)
c.5401G>T (p.Asp1801Tyr)
 COSMIC
6g.129464304A>CCA365619899LAMA2c.7007A>C (p.Asp2336Ala)
c.7271A>C (p.Asp2424Ala)
n.638A>C
n.346A>C
c.7004A>C (p.Asp2335Ala)
c.7265A>C (p.Asp2422Ala)
c.7277A>C (p.Asp2426Ala)
c.5402A>C (p.Asp1801Ala)
6g.129464304A>GCA365619902LAMA2c.7007A>G (p.Asp2336Gly)
c.7271A>G (p.Asp2424Gly)
n.638A>G
n.346A>G
c.7004A>G (p.Asp2335Gly)
c.7265A>G (p.Asp2422Gly)
c.7277A>G (p.Asp2426Gly)
c.5402A>G (p.Asp1801Gly)
6g.129464304A>TCA365619906LAMA2c.7007A>T (p.Asp2336Val)
c.7271A>T (p.Asp2424Val)
n.638A>T
n.346A>T
c.7004A>T (p.Asp2335Val)
c.7265A>T (p.Asp2422Val)
c.7277A>T (p.Asp2426Val)
c.5402A>T (p.Asp1801Val)
6g.129464305T>ACA365619911LAMA2c.7008T>A (p.Asp2336Glu)
c.7272T>A (p.Asp2424Glu)
n.639T>A
n.347T>A
c.7005T>A (p.Asp2335Glu)
c.7266T>A (p.Asp2422Glu)
c.7278T>A (p.Asp2426Glu)
c.5403T>A (p.Asp1801Glu)
6g.129464305T>CCA3994419LAMA2c.7008T>C (p.Asp2336=)
c.7272T>C (p.Asp2424=)
n.639T>C
n.347T>C
c.7005T>C (p.Asp2335=)
c.7266T>C (p.Asp2422=)
c.7278T>C (p.Asp2426=)
c.5403T>C (p.Asp1801=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129464305T>GCA365619915LAMA2c.7008T>G (p.Asp2336Glu)
c.7272T>G (p.Asp2424Glu)
n.639T>G
n.347T>G
c.7005T>G (p.Asp2335Glu)
c.7266T>G (p.Asp2422Glu)
c.7278T>G (p.Asp2426Glu)
c.5403T>G (p.Asp1801Glu)
6g.129464305T=CA1663191445LAMA2c.7008T= (p.Asp2336=)
c.7272T= (p.Asp2424=)
n.639T=
n.347T=
c.7005T= (p.Asp2335=)
c.7266T= (p.Asp2422=)
c.7278T= (p.Asp2426=)
c.5403T= (p.Asp1801=)
6g.129464306A>CCA365619920LAMA2c.7009A>C (p.Ser2337Arg)
c.7273A>C (p.Ser2425Arg)
n.640A>C
n.348A>C
c.7006A>C (p.Ser2336Arg)
c.7267A>C (p.Ser2423Arg)
c.7279A>C (p.Ser2427Arg)
c.5404A>C (p.Ser1802Arg)
6g.129464306A>GCA365619929LAMA2c.7009A>G (p.Ser2337Gly)
c.7273A>G (p.Ser2425Gly)
n.640A>G
n.348A>G
c.7006A>G (p.Ser2336Gly)
c.7267A>G (p.Ser2423Gly)
c.7279A>G (p.Ser2427Gly)
c.5404A>G (p.Ser1802Gly)
 gnomAD v4
6g.129464306A>TCA365619932LAMA2c.7009A>T (p.Ser2337Cys)
c.7273A>T (p.Ser2425Cys)
n.640A>T
n.348A>T
c.7006A>T (p.Ser2336Cys)
c.7267A>T (p.Ser2423Cys)
c.7279A>T (p.Ser2427Cys)
c.5404A>T (p.Ser1802Cys)
6g.129464307G>ACA365619935LAMA2c.7010G>A (p.Ser2337Asn)
c.7274G>A (p.Ser2425Asn)
n.641G>A
n.349G>A
c.7007G>A (p.Ser2336Asn)
c.7268G>A (p.Ser2423Asn)
c.7280G>A (p.Ser2427Asn)
c.5405G>A (p.Ser1802Asn)
 dbSNP
6g.129464307G>CCA365619938LAMA2c.7010G>C (p.Ser2337Thr)
c.7274G>C (p.Ser2425Thr)
n.641G>C
n.349G>C
c.7007G>C (p.Ser2336Thr)
c.7268G>C (p.Ser2423Thr)
c.7280G>C (p.Ser2427Thr)
c.5405G>C (p.Ser1802Thr)
6g.129464307G=CA1663191449LAMA2c.7010G= (p.Ser2337=)
c.7274G= (p.Ser2425=)
n.641G=
n.349G=
c.7007G= (p.Ser2336=)
c.7268G= (p.Ser2423=)
c.7280G= (p.Ser2427=)
c.5405G= (p.Ser1802=)
6g.129464307G>TCA365619941LAMA2c.7010G>T (p.Ser2337Ile)
c.7274G>T (p.Ser2425Ile)
n.641G>T
n.349G>T
c.7007G>T (p.Ser2336Ile)
c.7268G>T (p.Ser2423Ile)
c.7280G>T (p.Ser2427Ile)
c.5405G>T (p.Ser1802Ile)
6g.129464308T>ACA365619943LAMA2c.7011T>A (p.Ser2337Arg)
c.7275T>A (p.Ser2425Arg)
n.642T>A
n.350T>A
c.7008T>A (p.Ser2336Arg)
c.7269T>A (p.Ser2423Arg)
c.7281T>A (p.Ser2427Arg)
c.5406T>A (p.Ser1802Arg)
6g.129464308T>CCA451925642LAMA2c.7011T>C (p.Ser2337=)
c.7275T>C (p.Ser2425=)
n.642T>C
n.350T>C
c.7008T>C (p.Ser2336=)
c.7269T>C (p.Ser2423=)
c.7281T>C (p.Ser2427=)
c.5406T>C (p.Ser1802=)
6g.129464308T>GCA365619944LAMA2c.7011T>G (p.Ser2337Arg)
c.7275T>G (p.Ser2425Arg)
n.642T>G
n.350T>G
c.7008T>G (p.Ser2336Arg)
c.7269T>G (p.Ser2423Arg)
c.7281T>G (p.Ser2427Arg)
c.5406T>G (p.Ser1802Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.129464308T=CA1663191451LAMA2c.7011T= (p.Ser2337=)
c.7275T= (p.Ser2425=)
n.642T=
n.350T=
c.7008T= (p.Ser2336=)
c.7269T= (p.Ser2423=)
c.7281T= (p.Ser2427=)
c.5406T= (p.Ser1802=)
6g.129464309G>ACA3994420LAMA2c.7012G>A (p.Glu2338Lys)
c.7276G>A (p.Glu2426Lys)
n.643G>A
n.351G>A
c.7009G>A (p.Glu2337Lys)
c.7270G>A (p.Glu2424Lys)
c.7282G>A (p.Glu2428Lys)
c.5407G>A (p.Glu1803Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129464309G>CCA365619945LAMA2c.7012G>C (p.Glu2338Gln)
c.7276G>C (p.Glu2426Gln)
n.643G>C
n.351G>C
c.7009G>C (p.Glu2337Gln)
c.7270G>C (p.Glu2424Gln)
c.7282G>C (p.Glu2428Gln)
c.5407G>C (p.Glu1803Gln)
 dbSNP gnomAD v3 gnomAD v4
6g.129464309G=CA1663191453LAMA2c.7012G= (p.Glu2338=)
c.7276G= (p.Glu2426=)
n.643G=
n.351G=
c.7009G= (p.Glu2337=)
c.7270G= (p.Glu2424=)
c.7282G= (p.Glu2428=)
c.5407G= (p.Glu1803=)
6g.129464309G>TCA365619947LAMA2c.7012G>T (p.Glu2338Ter)
c.7276G>T (p.Glu2426Ter)
n.643G>T
n.351G>T
c.7009G>T (p.Glu2337Ter)
c.7270G>T (p.Glu2424Ter)
c.7282G>T (p.Glu2428Ter)
c.5407G>T (p.Glu1803Ter)
6g.129464310A>CCA365619952LAMA2c.7013A>C (p.Glu2338Ala)
c.7277A>C (p.Glu2426Ala)
n.644A>C
n.352A>C
c.7010A>C (p.Glu2337Ala)
c.7271A>C (p.Glu2424Ala)
c.7283A>C (p.Glu2428Ala)
c.5408A>C (p.Glu1803Ala)
6g.129464310A>GCA365619953LAMA2c.7013A>G (p.Glu2338Gly)
c.7277A>G (p.Glu2426Gly)
n.644A>G
n.352A>G
c.7010A>G (p.Glu2337Gly)
c.7271A>G (p.Glu2424Gly)
c.7283A>G (p.Glu2428Gly)
c.5408A>G (p.Glu1803Gly)
 gnomAD v4
6g.129464310A>TCA365619949LAMA2c.7013A>T (p.Glu2338Val)
c.7277A>T (p.Glu2426Val)
n.644A>T
n.352A>T
c.7010A>T (p.Glu2337Val)
c.7271A>T (p.Glu2424Val)
c.7283A>T (p.Glu2428Val)
c.5408A>T (p.Glu1803Val)
6g.129464311G>ACA451925661LAMA2c.7014G>A (p.Glu2338=)
c.7278G>A (p.Glu2426=)
n.645G>A
n.353G>A
c.7011G>A (p.Glu2337=)
c.7272G>A (p.Glu2424=)
c.7284G>A (p.Glu2428=)
c.5409G>A (p.Glu1803=)
 gnomAD v4
6g.129464311G>CCA365619957LAMA2c.7014G>C (p.Glu2338Asp)
c.7278G>C (p.Glu2426Asp)
n.645G>C
n.353G>C
c.7011G>C (p.Glu2337Asp)
c.7272G>C (p.Glu2424Asp)
c.7284G>C (p.Glu2428Asp)
c.5409G>C (p.Glu1803Asp)
 gnomAD v4
6g.129464311G>TCA365619959LAMA2c.7014G>T (p.Glu2338Asp)
c.7278G>T (p.Glu2426Asp)
n.645G>T
n.353G>T
c.7011G>T (p.Glu2337Asp)
c.7272G>T (p.Glu2424Asp)
c.7284G>T (p.Glu2428Asp)
c.5409G>T (p.Glu1803Asp)
6g.129464312G>ACA365619961LAMA2c.7015G>A (p.Gly2339Arg)
c.7279G>A (p.Gly2427Arg)
n.646G>A
n.354G>A
c.7012G>A (p.Gly2338Arg)
c.7273G>A (p.Gly2425Arg)
c.7285G>A (p.Gly2429Arg)
c.5410G>A (p.Gly1804Arg)
6g.129464312G>CCA365619964LAMA2c.7015G>C (p.Gly2339Arg)
c.7279G>C (p.Gly2427Arg)
n.646G>C
n.354G>C
c.7012G>C (p.Gly2338Arg)
c.7273G>C (p.Gly2425Arg)
c.7285G>C (p.Gly2429Arg)
c.5410G>C (p.Gly1804Arg)
6g.129464312G>TCA365619966LAMA2c.7015G>T (p.Gly2339Trp)
c.7279G>T (p.Gly2427Trp)
n.646G>T
n.354G>T
c.7012G>T (p.Gly2338Trp)
c.7273G>T (p.Gly2425Trp)
c.7285G>T (p.Gly2429Trp)
c.5410G>T (p.Gly1804Trp)
 COSMIC
6g.129464313G>ACA3994421LAMA2c.7016G>A (p.Gly2339Glu)
c.7280G>A (p.Gly2427Glu)
n.647G>A
n.355G>A
c.7013G>A (p.Gly2338Glu)
c.7274G>A (p.Gly2425Glu)
c.7286G>A (p.Gly2429Glu)
c.5411G>A (p.Gly1804Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129464313G>CCA365619983LAMA2c.7016G>C (p.Gly2339Ala)
c.7280G>C (p.Gly2427Ala)
n.647G>C
n.355G>C
c.7013G>C (p.Gly2338Ala)
c.7274G>C (p.Gly2425Ala)
c.7286G>C (p.Gly2429Ala)
c.5411G>C (p.Gly1804Ala)
6g.129464313G=CA1663191456LAMA2c.7016G= (p.Gly2339=)
c.7280G= (p.Gly2427=)
n.647G=
n.355G=
c.7013G= (p.Gly2338=)
c.7274G= (p.Gly2425=)
c.7286G= (p.Gly2429=)
c.5411G= (p.Gly1804=)
6g.129464313G>TCA365619982LAMA2c.7016G>T (p.Gly2339Val)
c.7280G>T (p.Gly2427Val)
n.647G>T
n.355G>T
c.7013G>T (p.Gly2338Val)
c.7274G>T (p.Gly2425Val)
c.7286G>T (p.Gly2429Val)
c.5411G>T (p.Gly1804Val)
6g.129464314G>ACA451925673LAMA2c.7017G>A (p.Gly2339=)
c.7281G>A (p.Gly2427=)
n.648G>A
n.356G>A
c.7014G>A (p.Gly2338=)
c.7275G>A (p.Gly2425=)
c.7287G>A (p.Gly2429=)
c.5412G>A (p.Gly1804=)
6g.129464314G>CCA451925670LAMA2c.7017G>C (p.Gly2339=)
c.7281G>C (p.Gly2427=)
n.648G>C
n.356G>C
c.7014G>C (p.Gly2338=)
c.7275G>C (p.Gly2425=)
c.7287G>C (p.Gly2429=)
c.5412G>C (p.Gly1804=)
6g.129464314G>TCA451925672LAMA2c.7017G>T (p.Gly2339=)
c.7281G>T (p.Gly2427=)
n.648G>T
n.356G>T
c.7014G>T (p.Gly2338=)
c.7275G>T (p.Gly2425=)
c.7287G>T (p.Gly2429=)
c.5412G>T (p.Gly1804=)
 gnomAD v4 COSMIC
6g.129464315A>CCA365619989LAMA2c.7018A>C (p.Thr2340Pro)
c.7282A>C (p.Thr2428Pro)
n.649A>C
n.357A>C
c.7015A>C (p.Thr2339Pro)
c.7276A>C (p.Thr2426Pro)
c.7288A>C (p.Thr2430Pro)
c.5413A>C (p.Thr1805Pro)
6g.129464315A>GCA365619992LAMA2c.7018A>G (p.Thr2340Ala)
c.7282A>G (p.Thr2428Ala)
n.649A>G
n.357A>G
c.7015A>G (p.Thr2339Ala)
c.7276A>G (p.Thr2426Ala)
c.7288A>G (p.Thr2430Ala)
c.5413A>G (p.Thr1805Ala)
6g.129464315A>TCA365619995LAMA2c.7018A>T (p.Thr2340Ser)
c.7282A>T (p.Thr2428Ser)
n.649A>T
n.357A>T
c.7015A>T (p.Thr2339Ser)
c.7276A>T (p.Thr2426Ser)
c.7288A>T (p.Thr2430Ser)
c.5413A>T (p.Thr1805Ser)
6g.129464316C>ACA365619999LAMA2c.7019C>A (p.Thr2340Asn)
c.7283C>A (p.Thr2428Asn)
n.650C>A
n.358C>A
c.7016C>A (p.Thr2339Asn)
c.7277C>A (p.Thr2426Asn)
c.7289C>A (p.Thr2430Asn)
c.5414C>A (p.Thr1805Asn)
6g.129464316C>GCA365620003LAMA2c.7019C>G (p.Thr2340Ser)
c.7283C>G (p.Thr2428Ser)
n.650C>G
n.358C>G
c.7016C>G (p.Thr2339Ser)
c.7277C>G (p.Thr2426Ser)
c.7289C>G (p.Thr2430Ser)
c.5414C>G (p.Thr1805Ser)
6g.129464316C>TCA365620006LAMA2c.7019C>T (p.Thr2340Ile)
c.7283C>T (p.Thr2428Ile)
n.650C>T
n.358C>T
c.7016C>T (p.Thr2339Ile)
c.7277C>T (p.Thr2426Ile)
c.7289C>T (p.Thr2430Ile)
c.5414C>T (p.Thr1805Ile)
6g.129464317T>ACA451925681LAMA2c.7020T>A (p.Thr2340=)
c.7284T>A (p.Thr2428=)
n.651T>A
n.359T>A
c.7017T>A (p.Thr2339=)
c.7278T>A (p.Thr2426=)
c.7290T>A (p.Thr2430=)
c.5415T>A (p.Thr1805=)
 COSMIC
6g.129464317T>CCA451925683LAMA2c.7020T>C (p.Thr2340=)
c.7284T>C (p.Thr2428=)
n.651T>C
n.359T>C
c.7017T>C (p.Thr2339=)
c.7278T>C (p.Thr2426=)
c.7290T>C (p.Thr2430=)
c.5415T>C (p.Thr1805=)
6g.129464317T>GCA451925680LAMA2c.7020T>G (p.Thr2340=)
c.7284T>G (p.Thr2428=)
n.651T>G
n.359T>G
c.7017T>G (p.Thr2339=)
c.7278T>G (p.Thr2426=)
c.7290T>G (p.Thr2430=)
c.5415T>G (p.Thr1805=)
6g.129464318A>CCA365620009LAMA2c.7021A>C (p.Ile2341Leu)
c.7285A>C (p.Ile2429Leu)
n.652A>C
n.360A>C
c.7018A>C (p.Ile2340Leu)
c.7279A>C (p.Ile2427Leu)
c.7291A>C (p.Ile2431Leu)
c.5416A>C (p.Ile1806Leu)
6g.129464318A>GCA365620016LAMA2c.7021A>G (p.Ile2341Val)
c.7285A>G (p.Ile2429Val)
n.652A>G
n.360A>G
c.7018A>G (p.Ile2340Val)
c.7279A>G (p.Ile2427Val)
c.7291A>G (p.Ile2431Val)
c.5416A>G (p.Ile1806Val)
 dbSNP
6g.129464318A>TCA365620012LAMA2c.7021A>T (p.Ile2341Phe)
c.7285A>T (p.Ile2429Phe)
n.652A>T
n.360A>T
c.7018A>T (p.Ile2340Phe)
c.7279A>T (p.Ile2427Phe)
c.7291A>T (p.Ile2431Phe)
c.5416A>T (p.Ile1806Phe)
6g.129464319T>ACA365620020LAMA2c.7022T>A (p.Ile2341Asn)
c.7286T>A (p.Ile2429Asn)
n.653T>A
n.361T>A
c.7019T>A (p.Ile2340Asn)
c.7280T>A (p.Ile2427Asn)
c.7292T>A (p.Ile2431Asn)
c.5417T>A (p.Ile1806Asn)
6g.129464319T>CCA365620021LAMA2c.7022T>C (p.Ile2341Thr)
c.7286T>C (p.Ile2429Thr)
n.653T>C
n.361T>C
c.7019T>C (p.Ile2340Thr)
c.7280T>C (p.Ile2427Thr)
c.7292T>C (p.Ile2431Thr)
c.5417T>C (p.Ile1806Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129464319T>GCA365620023LAMA2c.7022T>G (p.Ile2341Ser)
c.7286T>G (p.Ile2429Ser)
n.653T>G
n.361T>G
c.7019T>G (p.Ile2340Ser)
c.7280T>G (p.Ile2427Ser)
c.7292T>G (p.Ile2431Ser)
c.5417T>G (p.Ile1806Ser)
6g.129464319T=CA1663191459LAMA2c.7022T= (p.Ile2341=)
c.7286T= (p.Ile2429=)
n.653T=
n.361T=
c.7019T= (p.Ile2340=)
c.7280T= (p.Ile2427=)
c.7292T= (p.Ile2431=)
c.5417T= (p.Ile1806=)
6g.129464320T>ACA451925700LAMA2c.7023T>A (p.Ile2341=)
c.7287T>A (p.Ile2429=)
n.654T>A
n.362T>A
c.7020T>A (p.Ile2340=)
c.7281T>A (p.Ile2427=)
c.7293T>A (p.Ile2431=)
c.5418T>A (p.Ile1806=)
 ClinVar dbSNP
6g.129464320T>CCA451925696LAMA2c.7023T>C (p.Ile2341=)
c.7287T>C (p.Ile2429=)
n.654T>C
n.362T>C
c.7020T>C (p.Ile2340=)
c.7281T>C (p.Ile2427=)
c.7293T>C (p.Ile2431=)
c.5418T>C (p.Ile1806=)
6g.129464320T>GCA365620027LAMA2c.7023T>G (p.Ile2341Met)
c.7287T>G (p.Ile2429Met)
n.654T>G
n.362T>G
c.7020T>G (p.Ile2340Met)
c.7281T>G (p.Ile2427Met)
c.7293T>G (p.Ile2431Met)
c.5418T>G (p.Ile1806Met)
6g.129464320T=CA1663191462LAMA2c.7023T= (p.Ile2341=)
c.7287T= (p.Ile2429=)
n.654T=
n.362T=
c.7020T= (p.Ile2340=)
c.7281T= (p.Ile2427=)
c.7293T= (p.Ile2431=)
c.5418T= (p.Ile1806=)
6g.129464321C>ACA365620030LAMA2c.7024C>A (p.Gln2342Lys)
c.7288C>A (p.Gln2430Lys)
n.655C>A
n.363C>A
c.7021C>A (p.Gln2341Lys)
c.7282C>A (p.Gln2428Lys)
c.7294C>A (p.Gln2432Lys)
c.5419C>A (p.Gln1807Lys)
6g.129464321C=CA1663191467LAMA2c.7024C= (p.Gln2342=)
c.7288C= (p.Gln2430=)
n.655C=
n.363C=
c.7021C= (p.Gln2341=)
c.7282C= (p.Gln2428=)
c.7294C= (p.Gln2432=)
c.5419C= (p.Gln1807=)
6g.129464321C>GCA365620033LAMA2c.7024C>G (p.Gln2342Glu)
c.7288C>G (p.Gln2430Glu)
n.655C>G
n.363C>G
c.7021C>G (p.Gln2341Glu)
c.7282C>G (p.Gln2428Glu)
c.7294C>G (p.Gln2432Glu)
c.5419C>G (p.Gln1807Glu)
6g.129464321C>TCA365620036LAMA2c.7024C>T (p.Gln2342Ter)
c.7288C>T (p.Gln2430Ter)
n.655C>T
n.363C>T
c.7021C>T (p.Gln2341Ter)
c.7282C>T (p.Gln2428Ter)
c.7294C>T (p.Gln2432Ter)
c.5419C>T (p.Gln1807Ter)
 ClinVar dbSNP
6g.129464322A>CCA365620040LAMA2c.7025A>C (p.Gln2342Pro)
c.7289A>C (p.Gln2430Pro)
n.656A>C
n.364A>C
c.7022A>C (p.Gln2341Pro)
c.7283A>C (p.Gln2428Pro)
c.7295A>C (p.Gln2432Pro)
c.5420A>C (p.Gln1807Pro)
6g.129464322A>GCA365620043LAMA2c.7025A>G (p.Gln2342Arg)
c.7289A>G (p.Gln2430Arg)
n.656A>G
n.364A>G
c.7022A>G (p.Gln2341Arg)
c.7283A>G (p.Gln2428Arg)
c.7295A>G (p.Gln2432Arg)
c.5420A>G (p.Gln1807Arg)
 gnomAD v4
6g.129464322A>TCA365620047LAMA2c.7025A>T (p.Gln2342Leu)
c.7289A>T (p.Gln2430Leu)
n.656A>T
n.364A>T
c.7022A>T (p.Gln2341Leu)
c.7283A>T (p.Gln2428Leu)
c.7295A>T (p.Gln2432Leu)
c.5420A>T (p.Gln1807Leu)
6g.129464323A=CA1663191471LAMA2c.7026A= (p.Gln2342=)
c.7290A= (p.Gln2430=)
n.657A=
n.365A=
c.7023A= (p.Gln2341=)
c.7284A= (p.Gln2428=)
c.7296A= (p.Gln2432=)
c.5421A= (p.Gln1807=)
6g.129464323A>CCA365620050LAMA2c.7026A>C (p.Gln2342His)
c.7290A>C (p.Gln2430His)
n.657A>C
n.365A>C
c.7023A>C (p.Gln2341His)
c.7284A>C (p.Gln2428His)
c.7296A>C (p.Gln2432His)
c.5421A>C (p.Gln1807His)
 gnomAD v4
6g.129464323A>GCA3994422LAMA2c.7026A>G (p.Gln2342=)
c.7290A>G (p.Gln2430=)
n.657A>G
n.365A>G
c.7023A>G (p.Gln2341=)
c.7284A>G (p.Gln2428=)
c.7296A>G (p.Gln2432=)
c.5421A>G (p.Gln1807=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464323A>TCA365620054LAMA2c.7026A>T (p.Gln2342His)
c.7290A>T (p.Gln2430His)
n.657A>T
n.365A>T
c.7023A>T (p.Gln2341His)
c.7284A>T (p.Gln2428His)
c.7296A>T (p.Gln2432His)
c.5421A>T (p.Gln1807His)
 dbSNP gnomAD v4
6g.129464324T>ACA365620059LAMA2c.7027T>A (p.Phe2343Ile)
c.7291T>A (p.Phe2431Ile)
n.658T>A
n.366T>A
c.7024T>A (p.Phe2342Ile)
c.7285T>A (p.Phe2429Ile)
c.7297T>A (p.Phe2433Ile)
c.5422T>A (p.Phe1808Ile)
6g.129464324T>CCA365620063LAMA2c.7027T>C (p.Phe2343Leu)
c.7291T>C (p.Phe2431Leu)
n.658T>C
n.366T>C
c.7024T>C (p.Phe2342Leu)
c.7285T>C (p.Phe2429Leu)
c.7297T>C (p.Phe2433Leu)
c.5422T>C (p.Phe1808Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.129464324T>GCA365620057LAMA2c.7027T>G (p.Phe2343Val)
c.7291T>G (p.Phe2431Val)
n.658T>G
n.366T>G
c.7024T>G (p.Phe2342Val)
c.7285T>G (p.Phe2429Val)
c.7297T>G (p.Phe2433Val)
c.5422T>G (p.Phe1808Val)
6g.129464324T=CA1663191474LAMA2c.7027T= (p.Phe2343=)
c.7291T= (p.Phe2431=)
n.658T=
n.366T=
c.7024T= (p.Phe2342=)
c.7285T= (p.Phe2429=)
c.7297T= (p.Phe2433=)
c.5422T= (p.Phe1808=)
6g.129464325T>ACA365620070LAMA2c.7028T>A (p.Phe2343Tyr)
c.7292T>A (p.Phe2431Tyr)
n.659T>A
n.367T>A
c.7025T>A (p.Phe2342Tyr)
c.7286T>A (p.Phe2429Tyr)
c.7298T>A (p.Phe2433Tyr)
c.5423T>A (p.Phe1808Tyr)
6g.129464325T>CCA365620066LAMA2c.7028T>C (p.Phe2343Ser)
c.7292T>C (p.Phe2431Ser)
n.659T>C
n.367T>C
c.7025T>C (p.Phe2342Ser)
c.7286T>C (p.Phe2429Ser)
c.7298T>C (p.Phe2433Ser)
c.5423T>C (p.Phe1808Ser)
 dbSNP
6g.129464325T>GCA365620072LAMA2c.7028T>G (p.Phe2343Cys)
c.7292T>G (p.Phe2431Cys)
n.659T>G
n.367T>G
c.7025T>G (p.Phe2342Cys)
c.7286T>G (p.Phe2429Cys)
c.7298T>G (p.Phe2433Cys)
c.5423T>G (p.Phe1808Cys)
6g.129464326T>ACA365620077LAMA2c.7029T>A (p.Phe2343Leu)
c.7293T>A (p.Phe2431Leu)
n.660T>A
n.368T>A
c.7026T>A (p.Phe2342Leu)
c.7287T>A (p.Phe2429Leu)
c.7299T>A (p.Phe2433Leu)
c.5424T>A (p.Phe1808Leu)
6g.129464326T>CCA451925716LAMA2c.7029T>C (p.Phe2343=)
c.7293T>C (p.Phe2431=)
n.660T>C
n.368T>C
c.7026T>C (p.Phe2342=)
c.7287T>C (p.Phe2429=)
c.7299T>C (p.Phe2433=)
c.5424T>C (p.Phe1808=)
6g.129464326T>GCA365620080LAMA2c.7029T>G (p.Phe2343Leu)
c.7293T>G (p.Phe2431Leu)
n.660T>G
n.368T>G
c.7026T>G (p.Phe2342Leu)
c.7287T>G (p.Phe2429Leu)
c.7299T>G (p.Phe2433Leu)
c.5424T>G (p.Phe1808Leu)
6g.129464327G>ACA365620084LAMA2c.7030G>A (p.Asp2344Asn)
c.7294G>A (p.Asp2432Asn)
n.661G>A
n.369G>A
c.7027G>A (p.Asp2343Asn)
c.7288G>A (p.Asp2430Asn)
c.7300G>A (p.Asp2434Asn)
c.5425G>A (p.Asp1809Asn)
6g.129464327G>CCA365620086LAMA2c.7030G>C (p.Asp2344His)
c.7294G>C (p.Asp2432His)
n.661G>C
n.369G>C
c.7027G>C (p.Asp2343His)
c.7288G>C (p.Asp2430His)
c.7300G>C (p.Asp2434His)
c.5425G>C (p.Asp1809His)
6g.129464327G=CA1663191479LAMA2c.7030G= (p.Asp2344=)
c.7294G= (p.Asp2432=)
n.661G=
n.369G=
c.7027G= (p.Asp2343=)
c.7288G= (p.Asp2430=)
c.7300G= (p.Asp2434=)
c.5425G= (p.Asp1809=)
6g.129464327G>TCA3994423LAMA2c.7030G>T (p.Asp2344Tyr)
c.7294G>T (p.Asp2432Tyr)
n.661G>T
n.369G>T
c.7027G>T (p.Asp2343Tyr)
c.7288G>T (p.Asp2430Tyr)
c.7300G>T (p.Asp2434Tyr)
c.5425G>T (p.Asp1809Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464328A>CCA365620092LAMA2c.7031A>C (p.Asp2344Ala)
c.7295A>C (p.Asp2432Ala)
n.662A>C
n.370A>C
c.7028A>C (p.Asp2343Ala)
c.7289A>C (p.Asp2430Ala)
c.7301A>C (p.Asp2434Ala)
c.5426A>C (p.Asp1809Ala)
6g.129464328A>GCA365620095LAMA2c.7031A>G (p.Asp2344Gly)
c.7295A>G (p.Asp2432Gly)
n.662A>G
n.370A>G
c.7028A>G (p.Asp2343Gly)
c.7289A>G (p.Asp2430Gly)
c.7301A>G (p.Asp2434Gly)
c.5426A>G (p.Asp1809Gly)
6g.129464328A>TCA365620097LAMA2c.7031A>T (p.Asp2344Val)
c.7295A>T (p.Asp2432Val)
n.662A>T
n.370A>T
c.7028A>T (p.Asp2343Val)
c.7289A>T (p.Asp2430Val)
c.7301A>T (p.Asp2434Val)
c.5426A>T (p.Asp1809Val)
 gnomAD v4
6g.129464329T>ACA365620100LAMA2c.7032T>A (p.Asp2344Glu)
c.7296T>A (p.Asp2432Glu)
n.663T>A
n.371T>A
c.7029T>A (p.Asp2343Glu)
c.7290T>A (p.Asp2430Glu)
c.7302T>A (p.Asp2434Glu)
c.5427T>A (p.Asp1809Glu)
6g.129464329T>CCA451925729LAMA2c.7032T>C (p.Asp2344=)
c.7296T>C (p.Asp2432=)
n.663T>C
n.371T>C
c.7029T>C (p.Asp2343=)
c.7290T>C (p.Asp2430=)
c.7302T>C (p.Asp2434=)
c.5427T>C (p.Asp1809=)
6g.129464329T>GCA365620102LAMA2c.7032T>G (p.Asp2344Glu)
c.7296T>G (p.Asp2432Glu)
n.663T>G
n.371T>G
c.7029T>G (p.Asp2343Glu)
c.7290T>G (p.Asp2430Glu)
c.7302T>G (p.Asp2434Glu)
c.5427T>G (p.Asp1809Glu)
6g.129464330G>ACA365620106LAMA2c.7033G>A (p.Gly2345Arg)
c.7297G>A (p.Gly2433Arg)
n.664G>A
n.372G>A
c.7030G>A (p.Gly2344Arg)
c.7291G>A (p.Gly2431Arg)
c.7303G>A (p.Gly2435Arg)
c.5428G>A (p.Gly1810Arg)
6g.129464330G>CCA365620109LAMA2c.7033G>C (p.Gly2345Arg)
c.7297G>C (p.Gly2433Arg)
n.664G>C
n.372G>C
c.7030G>C (p.Gly2344Arg)
c.7291G>C (p.Gly2431Arg)
c.7303G>C (p.Gly2435Arg)
c.5428G>C (p.Gly1810Arg)
6g.129464330G>TCA365620111LAMA2c.7033G>T (p.Gly2345Ter)
c.7297G>T (p.Gly2433Ter)
n.664G>T
n.372G>T
c.7030G>T (p.Gly2344Ter)
c.7291G>T (p.Gly2431Ter)
c.7303G>T (p.Gly2435Ter)
c.5428G>T (p.Gly1810Ter)
6g.129464331G>ACA365620118LAMA2c.7034G>A (p.Gly2345Glu)
c.7298G>A (p.Gly2433Glu)
n.665G>A
n.373G>A
c.7031G>A (p.Gly2344Glu)
c.7292G>A (p.Gly2431Glu)
c.7304G>A (p.Gly2435Glu)
c.5429G>A (p.Gly1810Glu)
6g.129464331G>CCA365620116LAMA2c.7034G>C (p.Gly2345Ala)
c.7298G>C (p.Gly2433Ala)
n.665G>C
n.373G>C
c.7031G>C (p.Gly2344Ala)
c.7292G>C (p.Gly2431Ala)
c.7304G>C (p.Gly2435Ala)
c.5429G>C (p.Gly1810Ala)
 gnomAD v4
6g.129464331G>TCA365620113LAMA2c.7034G>T (p.Gly2345Val)
c.7298G>T (p.Gly2433Val)
n.665G>T
n.373G>T
c.7031G>T (p.Gly2344Val)
c.7292G>T (p.Gly2431Val)
c.7304G>T (p.Gly2435Val)
c.5429G>T (p.Gly1810Val)
6g.129464332A>CCA451925745LAMA2c.7035A>C (p.Gly2345=)
c.7299A>C (p.Gly2433=)
n.666A>C
n.374A>C
c.7032A>C (p.Gly2344=)
c.7293A>C (p.Gly2431=)
c.7305A>C (p.Gly2435=)
c.5430A>C (p.Gly1810=)
6g.129464332A>GCA451925751LAMA2c.7035A>G (p.Gly2345=)
c.7299A>G (p.Gly2433=)
n.666A>G
n.374A>G
c.7032A>G (p.Gly2344=)
c.7293A>G (p.Gly2431=)
c.7305A>G (p.Gly2435=)
c.5430A>G (p.Gly1810=)
 ClinVar gnomAD v4
6g.129464332A>TCA451925753LAMA2c.7035A>T (p.Gly2345=)
c.7299A>T (p.Gly2433=)
n.666A>T
n.374A>T
c.7032A>T (p.Gly2344=)
c.7293A>T (p.Gly2431=)
c.7305A>T (p.Gly2435=)
c.5430A>T (p.Gly1810=)
6g.129464333G>ACA365620122LAMA2c.7036G>A (p.Glu2346Lys)
c.7300G>A (p.Glu2434Lys)
n.667G>A
n.375G>A
c.7033G>A (p.Glu2345Lys)
c.7294G>A (p.Glu2432Lys)
c.7306G>A (p.Glu2436Lys)
c.5431G>A (p.Glu1811Lys)
 gnomAD v4
6g.129464333G>CCA365620126LAMA2c.7036G>C (p.Glu2346Gln)
c.7300G>C (p.Glu2434Gln)
n.667G>C
n.375G>C
c.7033G>C (p.Glu2345Gln)
c.7294G>C (p.Glu2432Gln)
c.7306G>C (p.Glu2436Gln)
c.5431G>C (p.Glu1811Gln)
6g.129464333G>TCA365620127LAMA2c.7036G>T (p.Glu2346Ter)
c.7300G>T (p.Glu2434Ter)
n.667G>T
n.375G>T
c.7033G>T (p.Glu2345Ter)
c.7294G>T (p.Glu2432Ter)
c.7306G>T (p.Glu2436Ter)
c.5431G>T (p.Glu1811Ter)
6g.129464334A>CCA365620131LAMA2c.7037A>C (p.Glu2346Ala)
c.7301A>C (p.Glu2434Ala)
n.668A>C
n.376A>C
c.7034A>C (p.Glu2345Ala)
c.7295A>C (p.Glu2432Ala)
c.7307A>C (p.Glu2436Ala)
c.5432A>C (p.Glu1811Ala)
6g.129464334A>GCA365620135LAMA2c.7037A>G (p.Glu2346Gly)
c.7301A>G (p.Glu2434Gly)
n.668A>G
n.376A>G
c.7034A>G (p.Glu2345Gly)
c.7295A>G (p.Glu2432Gly)
c.7307A>G (p.Glu2436Gly)
c.5432A>G (p.Glu1811Gly)
6g.129464334A>TCA365620136LAMA2c.7037A>T (p.Glu2346Val)
c.7301A>T (p.Glu2434Val)
n.668A>T
n.376A>T
c.7034A>T (p.Glu2345Val)
c.7295A>T (p.Glu2432Val)
c.7307A>T (p.Glu2436Val)
c.5432A>T (p.Glu1811Val)
6g.129464335A>CCA365620137LAMA2c.7038A>C (p.Glu2346Asp)
c.7302A>C (p.Glu2434Asp)
n.669A>C
n.377A>C
c.7035A>C (p.Glu2345Asp)
c.7296A>C (p.Glu2432Asp)
c.7308A>C (p.Glu2436Asp)
c.5433A>C (p.Glu1811Asp)
6g.129464335A>GCA451925776LAMA2c.7038A>G (p.Glu2346=)
c.7302A>G (p.Glu2434=)
n.669A>G
n.377A>G
c.7035A>G (p.Glu2345=)
c.7296A>G (p.Glu2432=)
c.7308A>G (p.Glu2436=)
c.5433A>G (p.Glu1811=)
6g.129464335A>TCA365620138LAMA2c.7038A>T (p.Glu2346Asp)
c.7302A>T (p.Glu2434Asp)
n.669A>T
n.377A>T
c.7035A>T (p.Glu2345Asp)
c.7296A>T (p.Glu2432Asp)
c.7308A>T (p.Glu2436Asp)
c.5433A>T (p.Glu1811Asp)
6g.129464336G>ACA365620139LAMA2c.7039G>A (p.Gly2347Ser)
c.7303G>A (p.Gly2435Ser)
n.670G>A
n.378G>A
c.7036G>A (p.Gly2346Ser)
c.7297G>A (p.Gly2433Ser)
c.7309G>A (p.Gly2437Ser)
c.5434G>A (p.Gly1812Ser)
6g.129464336G>CCA365620141LAMA2c.7039G>C (p.Gly2347Arg)
c.7303G>C (p.Gly2435Arg)
n.670G>C
n.378G>C
c.7036G>C (p.Gly2346Arg)
c.7297G>C (p.Gly2433Arg)
c.7309G>C (p.Gly2437Arg)
c.5434G>C (p.Gly1812Arg)
6g.129464336G>TCA365620144LAMA2c.7039G>T (p.Gly2347Cys)
c.7303G>T (p.Gly2435Cys)
n.670G>T
n.378G>T
c.7036G>T (p.Gly2346Cys)
c.7297G>T (p.Gly2433Cys)
c.7309G>T (p.Gly2437Cys)
c.5434G>T (p.Gly1812Cys)
6g.129464337G>ACA146891283LAMA2c.7040G>A (p.Gly2347Asp)
c.7304G>A (p.Gly2435Asp)
n.671G>A
n.379G>A
c.7037G>A (p.Gly2346Asp)
c.7298G>A (p.Gly2433Asp)
c.7310G>A (p.Gly2437Asp)
c.5435G>A (p.Gly1812Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129464337G>CCA365620154LAMA2c.7040G>C (p.Gly2347Ala)
c.7304G>C (p.Gly2435Ala)
n.671G>C
n.379G>C
c.7037G>C (p.Gly2346Ala)
c.7298G>C (p.Gly2433Ala)
c.7310G>C (p.Gly2437Ala)
c.5435G>C (p.Gly1812Ala)
6g.129464337G=CA1663191485LAMA2c.7040G= (p.Gly2347=)
c.7304G= (p.Gly2435=)
n.671G=
n.379G=
c.7037G= (p.Gly2346=)
c.7298G= (p.Gly2433=)
c.7310G= (p.Gly2437=)
c.5435G= (p.Gly1812=)
6g.129464337G>TCA3994424LAMA2c.7040G>T (p.Gly2347Val)
c.7304G>T (p.Gly2435Val)
n.671G>T
n.379G>T
c.7037G>T (p.Gly2346Val)
c.7298G>T (p.Gly2433Val)
c.7310G>T (p.Gly2437Val)
c.5435G>T (p.Gly1812Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464338T>ACA451925793LAMA2c.7041T>A (p.Gly2347=)
c.7305T>A (p.Gly2435=)
n.672T>A
n.380T>A
c.7038T>A (p.Gly2346=)
c.7299T>A (p.Gly2433=)
c.7311T>A (p.Gly2437=)
c.5436T>A (p.Gly1812=)
6g.129464338T>CCA451925794LAMA2c.7041T>C (p.Gly2347=)
c.7305T>C (p.Gly2435=)
n.672T>C
n.380T>C
c.7038T>C (p.Gly2346=)
c.7299T>C (p.Gly2433=)
c.7311T>C (p.Gly2437=)
c.5436T>C (p.Gly1812=)
 ClinVar dbSNP
6g.129464338T>GCA451925792LAMA2c.7041T>G (p.Gly2347=)
c.7305T>G (p.Gly2435=)
n.672T>G
n.380T>G
c.7038T>G (p.Gly2346=)
c.7299T>G (p.Gly2433=)
c.7311T>G (p.Gly2437=)
c.5436T>G (p.Gly1812=)
6g.129464339dupCA2680307464LAMA2c.7042dup (p.Tyr2348LeufsTer?)
c.7306dup (p.Tyr2436LeufsTer?)
n.673dup
n.381dup
c.7039dup (p.Tyr2347LeufsTer?)
c.7300dup (p.Tyr2434LeufsTer?)
c.7312dup (p.Tyr2438LeufsTer?)
c.5437dup (p.Tyr1813LeufsTer?)
 ClinVar gnomAD v4
6g.129464339T>ACA365620161LAMA2c.7042T>A (p.Tyr2348Asn)
c.7306T>A (p.Tyr2436Asn)
n.673T>A
n.381T>A
c.7039T>A (p.Tyr2347Asn)
c.7300T>A (p.Tyr2434Asn)
c.7312T>A (p.Tyr2438Asn)
c.5437T>A (p.Tyr1813Asn)
6g.129464339T>CCA365620163LAMA2c.7042T>C (p.Tyr2348His)
c.7306T>C (p.Tyr2436His)
n.673T>C
n.381T>C
c.7039T>C (p.Tyr2347His)
c.7300T>C (p.Tyr2434His)
c.7312T>C (p.Tyr2438His)
c.5437T>C (p.Tyr1813His)
6g.129464339T>GCA365620170LAMA2c.7042T>G (p.Tyr2348Asp)
c.7306T>G (p.Tyr2436Asp)
n.673T>G
n.381T>G
c.7039T>G (p.Tyr2347Asp)
c.7300T>G (p.Tyr2434Asp)
c.7312T>G (p.Tyr2438Asp)
c.5437T>G (p.Tyr1813Asp)
6g.129464340A>CCA365620178LAMA2c.7043A>C (p.Tyr2348Ser)
c.7307A>C (p.Tyr2436Ser)
n.674A>C
n.382A>C
c.7040A>C (p.Tyr2347Ser)
c.7301A>C (p.Tyr2434Ser)
c.7313A>C (p.Tyr2438Ser)
c.5438A>C (p.Tyr1813Ser)
6g.129464340A>GCA365620181LAMA2c.7043A>G (p.Tyr2348Cys)
c.7307A>G (p.Tyr2436Cys)
n.674A>G
n.382A>G
c.7040A>G (p.Tyr2347Cys)
c.7301A>G (p.Tyr2434Cys)
c.7313A>G (p.Tyr2438Cys)
c.5438A>G (p.Tyr1813Cys)
6g.129464340A>TCA365620196LAMA2c.7043A>T (p.Tyr2348Phe)
c.7307A>T (p.Tyr2436Phe)
n.674A>T
n.382A>T
c.7040A>T (p.Tyr2347Phe)
c.7301A>T (p.Tyr2434Phe)
c.7313A>T (p.Tyr2438Phe)
c.5438A>T (p.Tyr1813Phe)
6g.129464341T>ACA365620198LAMA2c.7044T>A (p.Tyr2348Ter)
c.7308T>A (p.Tyr2436Ter)
n.675T>A
n.383T>A
c.7041T>A (p.Tyr2347Ter)
c.7302T>A (p.Tyr2434Ter)
c.7314T>A (p.Tyr2438Ter)
c.5439T>A (p.Tyr1813Ter)
6g.129464341T>CCA451925808LAMA2c.7044T>C (p.Tyr2348=)
c.7308T>C (p.Tyr2436=)
n.675T>C
n.383T>C
c.7041T>C (p.Tyr2347=)
c.7302T>C (p.Tyr2434=)
c.7314T>C (p.Tyr2438=)
c.5439T>C (p.Tyr1813=)
6g.129464341T>GCA146891295LAMA2c.7044T>G (p.Tyr2348Ter)
c.7308T>G (p.Tyr2436Ter)
n.675T>G
n.383T>G
c.7041T>G (p.Tyr2347Ter)
c.7302T>G (p.Tyr2434Ter)
c.7314T>G (p.Tyr2438Ter)
c.5439T>G (p.Tyr1813Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129464341T=CA1663191493LAMA2c.7044T= (p.Tyr2348=)
c.7308T= (p.Tyr2436=)
n.675T=
n.383T=
c.7041T= (p.Tyr2347=)
c.7302T= (p.Tyr2434=)
c.7314T= (p.Tyr2438=)
c.5439T= (p.Tyr1813=)
6g.129464342G>ACA365620228LAMA2c.7045G>A (p.Ala2349Thr)
c.7309G>A (p.Ala2437Thr)
n.676G>A
n.384G>A
c.7042G>A (p.Ala2348Thr)
c.7303G>A (p.Ala2435Thr)
c.7315G>A (p.Ala2439Thr)
c.5440G>A (p.Ala1814Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.129464342G>CCA365620232LAMA2c.7045G>C (p.Ala2349Pro)
c.7309G>C (p.Ala2437Pro)
n.676G>C
n.384G>C
c.7042G>C (p.Ala2348Pro)
c.7303G>C (p.Ala2435Pro)
c.7315G>C (p.Ala2439Pro)
c.5440G>C (p.Ala1814Pro)
6g.129464342G=CA1663191499LAMA2c.7045G= (p.Ala2349=)
c.7309G= (p.Ala2437=)
n.676G=
n.384G=
c.7042G= (p.Ala2348=)
c.7303G= (p.Ala2435=)
c.7315G= (p.Ala2439=)
c.5440G= (p.Ala1814=)
6g.129464342G>TCA365620238LAMA2c.7045G>T (p.Ala2349Ser)
c.7309G>T (p.Ala2437Ser)
n.676G>T
n.384G>T
c.7042G>T (p.Ala2348Ser)
c.7303G>T (p.Ala2435Ser)
c.7315G>T (p.Ala2439Ser)
c.5440G>T (p.Ala1814Ser)
6g.129464343C>ACA365620245LAMA2c.7046C>A (p.Ala2349Glu)
c.7310C>A (p.Ala2437Glu)
n.677C>A
n.385C>A
c.7043C>A (p.Ala2348Glu)
c.7304C>A (p.Ala2435Glu)
c.7316C>A (p.Ala2439Glu)
c.5441C>A (p.Ala1814Glu)
6g.129464343C>GCA365620244LAMA2c.7046C>G (p.Ala2349Gly)
c.7310C>G (p.Ala2437Gly)
n.677C>G
n.385C>G
c.7043C>G (p.Ala2348Gly)
c.7304C>G (p.Ala2435Gly)
c.7316C>G (p.Ala2439Gly)
c.5441C>G (p.Ala1814Gly)
6g.129464343C>TCA365620242LAMA2c.7046C>T (p.Ala2349Val)
c.7310C>T (p.Ala2437Val)
n.677C>T
n.385C>T
c.7043C>T (p.Ala2348Val)
c.7304C>T (p.Ala2435Val)
c.7316C>T (p.Ala2439Val)
c.5441C>T (p.Ala1814Val)
6g.129464344A=CA1663191505LAMA2c.7047A= (p.Ala2349=)
c.7311A= (p.Ala2437=)
n.678A=
n.386A=
c.7044A= (p.Ala2348=)
c.7305A= (p.Ala2435=)
c.7317A= (p.Ala2439=)
c.5442A= (p.Ala1814=)
6g.129464344A>CCA451925829LAMA2c.7047A>C (p.Ala2349=)
c.7311A>C (p.Ala2437=)
n.678A>C
n.386A>C
c.7044A>C (p.Ala2348=)
c.7305A>C (p.Ala2435=)
c.7317A>C (p.Ala2439=)
c.5442A>C (p.Ala1814=)
6g.129464344A>GCA451925825LAMA2c.7047A>G (p.Ala2349=)
c.7311A>G (p.Ala2437=)
n.678A>G
n.386A>G
c.7044A>G (p.Ala2348=)
c.7305A>G (p.Ala2435=)
c.7317A>G (p.Ala2439=)
c.5442A>G (p.Ala1814=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129464344A>TCA451925823LAMA2c.7047A>T (p.Ala2349=)
c.7311A>T (p.Ala2437=)
n.678A>T
n.386A>T
c.7044A>T (p.Ala2348=)
c.7305A>T (p.Ala2435=)
c.7317A>T (p.Ala2439=)
c.5442A>T (p.Ala1814=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129464345T>ACA365620246LAMA2c.7048T>A (p.Leu2350Met)
c.7312T>A (p.Leu2438Met)
n.679T>A
n.387T>A
c.7045T>A (p.Leu2349Met)
c.7306T>A (p.Leu2436Met)
c.7318T>A (p.Leu2440Met)
c.5443T>A (p.Leu1815Met)
6g.129464345T>CCA451925833LAMA2c.7048T>C (p.Leu2350=)
c.7312T>C (p.Leu2438=)
n.679T>C
n.387T>C
c.7045T>C (p.Leu2349=)
c.7306T>C (p.Leu2436=)
c.7318T>C (p.Leu2440=)
c.5443T>C (p.Leu1815=)
 dbSNP
6g.129464345T>GCA365620247LAMA2c.7048T>G (p.Leu2350Val)
c.7312T>G (p.Leu2438Val)
n.679T>G
n.387T>G
c.7045T>G (p.Leu2349Val)
c.7306T>G (p.Leu2436Val)
c.7318T>G (p.Leu2440Val)
c.5443T>G (p.Leu1815Val)
6g.129464345T=CA1663191507LAMA2c.7048T= (p.Leu2350=)
c.7312T= (p.Leu2438=)
n.679T=
n.387T=
c.7045T= (p.Leu2349=)
c.7306T= (p.Leu2436=)
c.7318T= (p.Leu2440=)
c.5443T= (p.Leu1815=)
6g.129464346T>ACA365620251LAMA2c.7049T>A (p.Leu2350Ter)
c.7313T>A (p.Leu2438Ter)
n.680T>A
n.388T>A
c.7046T>A (p.Leu2349Ter)
c.7307T>A (p.Leu2436Ter)
c.7319T>A (p.Leu2440Ter)
c.5444T>A (p.Leu1815Ter)
6g.129464346T>CCA365620255LAMA2c.7049T>C (p.Leu2350Ser)
c.7313T>C (p.Leu2438Ser)
n.680T>C
n.388T>C
c.7046T>C (p.Leu2349Ser)
c.7307T>C (p.Leu2436Ser)
c.7319T>C (p.Leu2440Ser)
c.5444T>C (p.Leu1815Ser)
6g.129464346T>GCA365620258LAMA2c.7049T>G (p.Leu2350Trp)
c.7313T>G (p.Leu2438Trp)
n.680T>G
n.388T>G
c.7046T>G (p.Leu2349Trp)
c.7307T>G (p.Leu2436Trp)
c.7319T>G (p.Leu2440Trp)
c.5444T>G (p.Leu1815Trp)
6g.129464347G>ACA451925838LAMA2c.7050G>A (p.Leu2350=)
c.7314G>A (p.Leu2438=)
n.681G>A
n.389G>A
c.7047G>A (p.Leu2349=)
c.7308G>A (p.Leu2436=)
c.7320G>A (p.Leu2440=)
c.5445G>A (p.Leu1815=)
 gnomAD v4
6g.129464347G>CCA365620268LAMA2c.7050G>C (p.Leu2350Phe)
c.7314G>C (p.Leu2438Phe)
n.681G>C
n.389G>C
c.7047G>C (p.Leu2349Phe)
c.7308G>C (p.Leu2436Phe)
c.7320G>C (p.Leu2440Phe)
c.5445G>C (p.Leu1815Phe)
 dbSNP gnomAD v2 gnomAD v4
6g.129464347G=CA1663191512LAMA2c.7050G= (p.Leu2350=)
c.7314G= (p.Leu2438=)
n.681G=
n.389G=
c.7047G= (p.Leu2349=)
c.7308G= (p.Leu2436=)
c.7320G= (p.Leu2440=)
c.5445G= (p.Leu1815=)
6g.129464347G>TCA365620273LAMA2c.7050G>T (p.Leu2350Phe)
c.7314G>T (p.Leu2438Phe)
n.681G>T
n.389G>T
c.7047G>T (p.Leu2349Phe)
c.7308G>T (p.Leu2436Phe)
c.7320G>T (p.Leu2440Phe)
c.5445G>T (p.Leu1815Phe)
6g.129464348G>ACA3994425LAMA2c.7051G>A (p.Val2351Ile)
c.7315G>A (p.Val2439Ile)
n.682G>A
n.390G>A
c.7048G>A (p.Val2350Ile)
c.7309G>A (p.Val2437Ile)
c.7321G>A (p.Val2441Ile)
c.5446G>A (p.Val1816Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464348G>CCA365620277LAMA2c.7051G>C (p.Val2351Leu)
c.7315G>C (p.Val2439Leu)
n.682G>C
n.390G>C
c.7048G>C (p.Val2350Leu)
c.7309G>C (p.Val2437Leu)
c.7321G>C (p.Val2441Leu)
c.5446G>C (p.Val1816Leu)
6g.129464348G=CA1663191515LAMA2c.7051G= (p.Val2351=)
c.7315G= (p.Val2439=)
n.682G=
n.390G=
c.7048G= (p.Val2350=)
c.7309G= (p.Val2437=)
c.7321G= (p.Val2441=)
c.5446G= (p.Val1816=)
6g.129464348G>TCA365620279LAMA2c.7051G>T (p.Val2351Phe)
c.7315G>T (p.Val2439Phe)
n.682G>T
n.390G>T
c.7048G>T (p.Val2350Phe)
c.7309G>T (p.Val2437Phe)
c.7321G>T (p.Val2441Phe)
c.5446G>T (p.Val1816Phe)
6g.129464349T>ACA365620286LAMA2c.7052T>A (p.Val2351Asp)
c.7316T>A (p.Val2439Asp)
n.683T>A
n.391T>A
c.7049T>A (p.Val2350Asp)
c.7310T>A (p.Val2437Asp)
c.7322T>A (p.Val2441Asp)
c.5447T>A (p.Val1816Asp)
6g.129464349T>CCA365620288LAMA2c.7052T>C (p.Val2351Ala)
c.7316T>C (p.Val2439Ala)
n.683T>C
n.391T>C
c.7049T>C (p.Val2350Ala)
c.7310T>C (p.Val2437Ala)
c.7322T>C (p.Val2441Ala)
c.5447T>C (p.Val1816Ala)
 ClinVar
6g.129464349T>GCA365620306LAMA2c.7052T>G (p.Val2351Gly)
c.7316T>G (p.Val2439Gly)
n.683T>G
n.391T>G
c.7049T>G (p.Val2350Gly)
c.7310T>G (p.Val2437Gly)
c.7322T>G (p.Val2441Gly)
c.5447T>G (p.Val1816Gly)
6g.129464350C>ACA451925859LAMA2c.7053C>A (p.Val2351=)
c.7317C>A (p.Val2439=)
n.684C>A
n.392C>A
c.7050C>A (p.Val2350=)
c.7311C>A (p.Val2437=)
c.7323C>A (p.Val2441=)
c.5448C>A (p.Val1816=)
6g.129464350C>GCA451925860LAMA2c.7053C>G (p.Val2351=)
c.7317C>G (p.Val2439=)
n.684C>G
n.392C>G
c.7050C>G (p.Val2350=)
c.7311C>G (p.Val2437=)
c.7323C>G (p.Val2441=)
c.5448C>G (p.Val1816=)
6g.129464350C>TCA451925862LAMA2c.7053C>T (p.Val2351=)
c.7317C>T (p.Val2439=)
n.684C>T
n.392C>T
c.7050C>T (p.Val2350=)
c.7311C>T (p.Val2437=)
c.7323C>T (p.Val2441=)
c.5448C>T (p.Val1816=)
6g.129464351A>CCA365620314LAMA2c.7054A>C (p.Ser2352Arg)
c.7318A>C (p.Ser2440Arg)
n.685A>C
n.393A>C
c.7051A>C (p.Ser2351Arg)
c.7312A>C (p.Ser2438Arg)
c.7324A>C (p.Ser2442Arg)
c.5449A>C (p.Ser1817Arg)
 gnomAD v4
6g.129464351A>GCA365620315LAMA2c.7054A>G (p.Ser2352Gly)
c.7318A>G (p.Ser2440Gly)
n.685A>G
n.393A>G
c.7051A>G (p.Ser2351Gly)
c.7312A>G (p.Ser2438Gly)
c.7324A>G (p.Ser2442Gly)
c.5449A>G (p.Ser1817Gly)
6g.129464351A>TCA365620312LAMA2c.7054A>T (p.Ser2352Cys)
c.7318A>T (p.Ser2440Cys)
n.685A>T
n.393A>T
c.7051A>T (p.Ser2351Cys)
c.7312A>T (p.Ser2438Cys)
c.7324A>T (p.Ser2442Cys)
c.5449A>T (p.Ser1817Cys)
6g.129464352G>ACA365620317LAMA2c.7055G>A (p.Ser2352Asn)
c.7319G>A (p.Ser2440Asn)
n.686G>A
n.394G>A
c.7052G>A (p.Ser2351Asn)
c.7313G>A (p.Ser2438Asn)
c.7325G>A (p.Ser2442Asn)
c.5450G>A (p.Ser1817Asn)
6g.129464352G>CCA3994426LAMA2c.7055G>C (p.Ser2352Thr)
c.7319G>C (p.Ser2440Thr)
n.686G>C
n.394G>C
c.7052G>C (p.Ser2351Thr)
c.7313G>C (p.Ser2438Thr)
c.7325G>C (p.Ser2442Thr)
c.5450G>C (p.Ser1817Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464352G=CA1663191517LAMA2c.7055G= (p.Ser2352=)
c.7319G= (p.Ser2440=)
n.686G=
n.394G=
c.7052G= (p.Ser2351=)
c.7313G= (p.Ser2438=)
c.7325G= (p.Ser2442=)
c.5450G= (p.Ser1817=)
6g.129464352G>TCA365620325LAMA2c.7055G>T (p.Ser2352Ile)
c.7319G>T (p.Ser2440Ile)
n.686G>T
n.394G>T
c.7052G>T (p.Ser2351Ile)
c.7313G>T (p.Ser2438Ile)
c.7325G>T (p.Ser2442Ile)
c.5450G>T (p.Ser1817Ile)
 dbSNP gnomAD v3 gnomAD v4
6g.129464353C>ACA365620340LAMA2c.7056C>A (p.Ser2352Arg)
c.7320C>A (p.Ser2440Arg)
n.687C>A
n.395C>A
c.7053C>A (p.Ser2351Arg)
c.7314C>A (p.Ser2438Arg)
c.7326C>A (p.Ser2442Arg)
c.5451C>A (p.Ser1817Arg)
 dbSNP
6g.129464353C=CA1663191520LAMA2c.7056C= (p.Ser2352=)
c.7320C= (p.Ser2440=)
n.687C=
n.395C=
c.7053C= (p.Ser2351=)
c.7314C= (p.Ser2438=)
c.7326C= (p.Ser2442=)
c.5451C= (p.Ser1817=)
6g.129464353C>GCA365620342LAMA2c.7056C>G (p.Ser2352Arg)
c.7320C>G (p.Ser2440Arg)
n.687C>G
n.395C>G
c.7053C>G (p.Ser2351Arg)
c.7314C>G (p.Ser2438Arg)
c.7326C>G (p.Ser2442Arg)
c.5451C>G (p.Ser1817Arg)
6g.129464353C>TCA451925881LAMA2c.7056C>T (p.Ser2352=)
c.7320C>T (p.Ser2440=)
n.687C>T
n.395C>T
c.7053C>T (p.Ser2351=)
c.7314C>T (p.Ser2438=)
c.7326C>T (p.Ser2442=)
c.5451C>T (p.Ser1817=)
 ClinVar dbSNP COSMIC
6g.129464354C>ACA365620371LAMA2c.7057C>A (p.Arg2353Ser)
c.7321C>A (p.Arg2441Ser)
n.688C>A
n.396C>A
c.7054C>A (p.Arg2352Ser)
c.7315C>A (p.Arg2439Ser)
c.7327C>A (p.Arg2443Ser)
c.5452C>A (p.Arg1818Ser)
 dbSNP gnomAD v4
6g.129464354C=CA1663191525LAMA2c.7057C= (p.Arg2353=)
c.7321C= (p.Arg2441=)
n.688C=
n.396C=
c.7054C= (p.Arg2352=)
c.7315C= (p.Arg2439=)
c.7327C= (p.Arg2443=)
c.5452C= (p.Arg1818=)
6g.129464354C>GCA365620361LAMA2c.7057C>G (p.Arg2353Gly)
c.7321C>G (p.Arg2441Gly)
n.688C>G
n.396C>G
c.7054C>G (p.Arg2352Gly)
c.7315C>G (p.Arg2439Gly)
c.7327C>G (p.Arg2443Gly)
c.5452C>G (p.Arg1818Gly)
6g.129464354C>TCA3994427LAMA2c.7057C>T (p.Arg2353Cys)
c.7321C>T (p.Arg2441Cys)
n.688C>T
n.396C>T
c.7054C>T (p.Arg2352Cys)
c.7315C>T (p.Arg2439Cys)
c.7327C>T (p.Arg2443Cys)
c.5452C>T (p.Arg1818Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129464355G>ACA3994428LAMA2c.7058G>A (p.Arg2353His)
c.7322G>A (p.Arg2441His)
n.689G>A
n.397G>A
c.7055G>A (p.Arg2352His)
c.7316G>A (p.Arg2439His)
c.7328G>A (p.Arg2443His)
c.5453G>A (p.Arg1818His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.129464355G>CCA365620382LAMA2c.7058G>C (p.Arg2353Pro)
c.7322G>C (p.Arg2441Pro)
n.689G>C
n.397G>C
c.7055G>C (p.Arg2352Pro)
c.7316G>C (p.Arg2439Pro)
c.7328G>C (p.Arg2443Pro)
c.5453G>C (p.Arg1818Pro)
6g.129464355G=CA1663191533LAMA2c.7058G= (p.Arg2353=)
c.7322G= (p.Arg2441=)
n.689G=
n.397G=
c.7055G= (p.Arg2352=)
c.7316G= (p.Arg2439=)
c.7328G= (p.Arg2443=)
c.5453G= (p.Arg1818=)
6g.129464355G>TCA3994429LAMA2c.7058G>T (p.Arg2353Leu)
c.7322G>T (p.Arg2441Leu)
n.689G>T
n.397G>T
c.7055G>T (p.Arg2352Leu)
c.7316G>T (p.Arg2439Leu)
c.7328G>T (p.Arg2443Leu)
c.5453G>T (p.Arg1818Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129464356T>ACA451925887LAMA2c.7059T>A (p.Arg2353=)
c.7323T>A (p.Arg2441=)
n.690T>A
n.398T>A
c.7056T>A (p.Arg2352=)
c.7317T>A (p.Arg2439=)
c.7329T>A (p.Arg2443=)
c.5454T>A (p.Arg1818=)
6g.129464356T>CCA451925894LAMA2c.7059T>C (p.Arg2353=)
c.7323T>C (p.Arg2441=)
n.690T>C
n.398T>C
c.7056T>C (p.Arg2352=)
c.7317T>C (p.Arg2439=)
c.7329T>C (p.Arg2443=)
c.5454T>C (p.Arg1818=)
 dbSNP
6g.129464356T>GCA451925897LAMA2c.7059T>G (p.Arg2353=)
c.7323T>G (p.Arg2441=)
n.690T>G
n.398T>G
c.7056T>G (p.Arg2352=)
c.7317T>G (p.Arg2439=)
c.7329T>G (p.Arg2443=)
c.5454T>G (p.Arg1818=)
6g.129464356T=CA1663191538LAMA2c.7059T= (p.Arg2353=)
c.7323T= (p.Arg2441=)
n.690T=
n.398T=
c.7056T= (p.Arg2352=)
c.7317T= (p.Arg2439=)
c.7329T= (p.Arg2443=)
c.5454T= (p.Arg1818=)

Number of alleles fetched