Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129314604C>ACA2680319126LAMA2c.3412-51C>A (n.3412-51C>A)
c.3676-51C>A (n.3676-51C>A)
c.3682-51C>A (n.3682-51C>A)
c.1807-51C>A (n.1807-51C>A)
 gnomAD v4
6g.129314604C=CA1663078299LAMA2c.3412-51C= (n.3412-51C=)
c.3676-51C= (n.3676-51C=)
c.3682-51C= (n.3682-51C=)
c.1807-51C= (n.1807-51C=)
6g.129314604C>TCA570053434LAMA2c.3412-51C>T (n.3412-51C>T)
c.3676-51C>T (n.3676-51C>T)
c.3682-51C>T (n.3682-51C>T)
c.1807-51C>T (n.1807-51C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129314605T>CCA2680319127LAMA2c.3412-50T>C (n.3412-50T>C)
c.3676-50T>C (n.3676-50T>C)
c.3682-50T>C (n.3682-50T>C)
c.1807-50T>C (n.1807-50T>C)
 gnomAD v4
6g.129314606C>ACA2680319128LAMA2c.3412-49C>A (n.3412-49C>A)
c.3676-49C>A (n.3676-49C>A)
c.3682-49C>A (n.3682-49C>A)
c.1807-49C>A (n.1807-49C>A)
 gnomAD v4
6g.129314607C>ACA2680319129LAMA2c.3412-48C>A (n.3412-48C>A)
c.3676-48C>A (n.3676-48C>A)
c.3682-48C>A (n.3682-48C>A)
c.1807-48C>A (n.1807-48C>A)
 gnomAD v4
6g.129314607C>TCA2680319130LAMA2c.3412-48C>T (n.3412-48C>T)
c.3676-48C>T (n.3676-48C>T)
c.3682-48C>T (n.3682-48C>T)
c.1807-48C>T (n.1807-48C>T)
 gnomAD v4
6g.129314608C>ACA2578737074LAMA2c.3412-47C>A (n.3412-47C>A)
c.3676-47C>A (n.3676-47C>A)
c.3682-47C>A (n.3682-47C>A)
c.1807-47C>A (n.1807-47C>A)
 gnomAD v4
6g.129314609C=CA1663078300LAMA2c.3412-46C= (n.3412-46C=)
c.3676-46C= (n.3676-46C=)
c.3682-46C= (n.3682-46C=)
c.1807-46C= (n.1807-46C=)
6g.129314609C>TCA146913255LAMA2c.3412-46C>T (n.3412-46C>T)
c.3676-46C>T (n.3676-46C>T)
c.3682-46C>T (n.3682-46C>T)
c.1807-46C>T (n.1807-46C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129314611A>GCA2680319131LAMA2c.3412-44A>G (n.3412-44A>G)
c.3676-44A>G (n.3676-44A>G)
c.3682-44A>G (n.3682-44A>G)
c.1807-44A>G (n.1807-44A>G)
 gnomAD v4
6g.129314612A=CA1663078303LAMA2c.3412-43A= (n.3412-43A=)
c.3676-43A= (n.3676-43A=)
c.3682-43A= (n.3682-43A=)
c.1807-43A= (n.1807-43A=)
6g.129314612A>CCA570053435LAMA2c.3412-43A>C (n.3412-43A>C)
c.3676-43A>C (n.3676-43A>C)
c.3682-43A>C (n.3682-43A>C)
c.1807-43A>C (n.1807-43A>C)
 dbSNP gnomAD v2 gnomAD v4
6g.129314613C>ACA2680319132LAMA2c.3412-42C>A (n.3412-42C>A)
c.3676-42C>A (n.3676-42C>A)
c.3682-42C>A (n.3682-42C>A)
c.1807-42C>A (n.1807-42C>A)
 gnomAD v4
6g.129314614T>GCA2680319133LAMA2c.3412-41T>G (n.3412-41T>G)
c.3676-41T>G (n.3676-41T>G)
c.3682-41T>G (n.3682-41T>G)
c.1807-41T>G (n.1807-41T>G)
 gnomAD v4
6g.129314616T>CCA2680319134LAMA2c.3412-39T>C (n.3412-39T>C)
c.3676-39T>C (n.3676-39T>C)
c.3682-39T>C (n.3682-39T>C)
c.1807-39T>C (n.1807-39T>C)
 gnomAD v4
6g.129314617G>ACA3993251LAMA2c.3412-38G>A (n.3412-38G>A)
c.3676-38G>A (n.3676-38G>A)
c.3682-38G>A (n.3682-38G>A)
c.1807-38G>A (n.1807-38G>A)
 dbSNP ExAC gnomAD v4
6g.129314617G=CA1663078306LAMA2c.3412-38G= (n.3412-38G=)
c.3676-38G= (n.3676-38G=)
c.3682-38G= (n.3682-38G=)
c.1807-38G= (n.1807-38G=)
6g.129314618C>ACA818855759LAMA2c.3412-37C>A (n.3412-37C>A)
c.3676-37C>A (n.3676-37C>A)
c.3682-37C>A (n.3682-37C>A)
c.1807-37C>A (n.1807-37C>A)
 dbSNP gnomAD v3 gnomAD v4
6g.129314618C=CA1663078313LAMA2c.3412-37C= (n.3412-37C=)
c.3676-37C= (n.3676-37C=)
c.3682-37C= (n.3682-37C=)
c.1807-37C= (n.1807-37C=)
6g.129314618C>TCA3993252LAMA2c.3412-37C>T (n.3412-37C>T)
c.3676-37C>T (n.3676-37C>T)
c.3682-37C>T (n.3682-37C>T)
c.1807-37C>T (n.1807-37C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129314619C>ACA2680319135LAMA2c.3412-36C>A (n.3412-36C>A)
c.3676-36C>A (n.3676-36C>A)
c.3682-36C>A (n.3682-36C>A)
c.1807-36C>A (n.1807-36C>A)
 dbSNP gnomAD v4
6g.129314619C=CA1663078315LAMA2c.3412-36C= (n.3412-36C=)
c.3676-36C= (n.3676-36C=)
c.3682-36C= (n.3682-36C=)
c.1807-36C= (n.1807-36C=)
6g.129314619C>TCA3993253LAMA2c.3412-36C>T (n.3412-36C>T)
c.3676-36C>T (n.3676-36C>T)
c.3682-36C>T (n.3682-36C>T)
c.1807-36C>T (n.1807-36C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129314620G>ACA3993254LAMA2c.3412-35G>A (n.3412-35G>A)
c.3676-35G>A (n.3676-35G>A)
c.3682-35G>A (n.3682-35G>A)
c.1807-35G>A (n.1807-35G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129314620G=CA1663078318LAMA2c.3412-35G= (n.3412-35G=)
c.3676-35G= (n.3676-35G=)
c.3682-35G= (n.3682-35G=)
c.1807-35G= (n.1807-35G=)
6g.129314620G>TCA2680319136LAMA2c.3412-35G>T (n.3412-35G>T)
c.3676-35G>T (n.3676-35G>T)
c.3682-35G>T (n.3682-35G>T)
c.1807-35G>T (n.1807-35G>T)
 gnomAD v4
6g.129314622T>CCA2680319137LAMA2c.3412-33T>C (n.3412-33T>C)
c.3676-33T>C (n.3676-33T>C)
c.3682-33T>C (n.3682-33T>C)
c.1807-33T>C (n.1807-33T>C)
 gnomAD v4
6g.129314622T>GCA3993255LAMA2c.3412-33T>G (n.3412-33T>G)
c.3676-33T>G (n.3676-33T>G)
c.3682-33T>G (n.3682-33T>G)
c.1807-33T>G (n.1807-33T>G)
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.129314622T=CA1663078344LAMA2c.3412-33T= (n.3412-33T=)
c.3676-33T= (n.3676-33T=)
c.3682-33T= (n.3682-33T=)
c.1807-33T= (n.1807-33T=)
6g.129314623A=CA1663078351LAMA2c.3412-32A= (n.3412-32A=)
c.3676-32A= (n.3676-32A=)
c.3682-32A= (n.3682-32A=)
c.1807-32A= (n.1807-32A=)
6g.129314623A>GCA146913268LAMA2c.3412-32A>G (n.3412-32A>G)
c.3676-32A>G (n.3676-32A>G)
c.3682-32A>G (n.3682-32A>G)
c.1807-32A>G (n.1807-32A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129314624T>CCA2680319138LAMA2c.3412-31T>C (n.3412-31T>C)
c.3676-31T>C (n.3676-31T>C)
c.3682-31T>C (n.3682-31T>C)
c.1807-31T>C (n.1807-31T>C)
 gnomAD v4
6g.129314628C>ACA2680319139LAMA2c.3412-27C>A (n.3412-27C>A)
c.3676-27C>A (n.3676-27C>A)
c.3682-27C>A (n.3682-27C>A)
c.1807-27C>A (n.1807-27C>A)
 gnomAD v4
6g.129314628C>TCA2712945449LAMA2c.3412-27C>T (n.3412-27C>T)
c.3676-27C>T (n.3676-27C>T)
c.3682-27C>T (n.3682-27C>T)
c.1807-27C>T (n.1807-27C>T)
 dbSNP
6g.129314629T>CCA2680319140LAMA2c.3412-26T>C (n.3412-26T>C)
c.3676-26T>C (n.3676-26T>C)
c.3682-26T>C (n.3682-26T>C)
c.1807-26T>C (n.1807-26T>C)
 gnomAD v4
6g.129314629T>GCA1663078356LAMA2c.3412-26T>G (n.3412-26T>G)
c.3676-26T>G (n.3676-26T>G)
c.3682-26T>G (n.3682-26T>G)
c.1807-26T>G (n.1807-26T>G)
 dbSNP gnomAD v4
6g.129314629T=CA1663078353LAMA2c.3412-26T= (n.3412-26T=)
c.3676-26T= (n.3676-26T=)
c.3682-26T= (n.3682-26T=)
c.1807-26T= (n.1807-26T=)
6g.129314630C>ACA2680319141LAMA2c.3412-25C>A (n.3412-25C>A)
c.3676-25C>A (n.3676-25C>A)
c.3682-25C>A (n.3682-25C>A)
c.1807-25C>A (n.1807-25C>A)
 gnomAD v4
6g.129314631T>CCA1663078361LAMA2c.3412-24T>C (n.3412-24T>C)
c.3676-24T>C (n.3676-24T>C)
c.3682-24T>C (n.3682-24T>C)
c.1807-24T>C (n.1807-24T>C)
 dbSNP
6g.129314631T=CA1663078358LAMA2c.3412-24T= (n.3412-24T=)
c.3676-24T= (n.3676-24T=)
c.3682-24T= (n.3682-24T=)
c.1807-24T= (n.1807-24T=)
6g.129314632G>CCA818855766LAMA2c.3412-23G>C (n.3412-23G>C)
c.3676-23G>C (n.3676-23G>C)
c.3682-23G>C (n.3682-23G>C)
c.1807-23G>C (n.1807-23G>C)
 dbSNP
6g.129314632G=CA1663078365LAMA2c.3412-23G= (n.3412-23G=)
c.3676-23G= (n.3676-23G=)
c.3682-23G= (n.3682-23G=)
c.1807-23G= (n.1807-23G=)
6g.129314634G>TCA2680319142LAMA2c.3412-21G>T (n.3412-21G>T)
c.3676-21G>T (n.3676-21G>T)
c.3682-21G>T (n.3682-21G>T)
c.1807-21G>T (n.1807-21G>T)
 gnomAD v4
6g.129314636G=CA1663078371LAMA2c.3412-19G= (n.3412-19G=)
c.3676-19G= (n.3676-19G=)
c.3682-19G= (n.3682-19G=)
c.1807-19G= (n.1807-19G=)
6g.129314636G>TCA3993256LAMA2c.3412-19G>T (n.3412-19G>T)
c.3676-19G>T (n.3676-19G>T)
c.3682-19G>T (n.3682-19G>T)
c.1807-19G>T (n.1807-19G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129314637T>ACA2680319143LAMA2c.3412-18T>A (n.3412-18T>A)
c.3676-18T>A (n.3676-18T>A)
c.3682-18T>A (n.3682-18T>A)
c.1807-18T>A (n.1807-18T>A)
 ClinVar gnomAD v4
6g.129314638C>ACA3993257LAMA2c.3412-17C>A (n.3412-17C>A)
c.3676-17C>A (n.3676-17C>A)
c.3682-17C>A (n.3682-17C>A)
c.1807-17C>A (n.1807-17C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129314638C=CA1663078378LAMA2c.3412-17C= (n.3412-17C=)
c.3676-17C= (n.3676-17C=)
c.3682-17C= (n.3682-17C=)
c.1807-17C= (n.1807-17C=)
6g.129314638C>GCA570053440LAMA2c.3412-17C>G (n.3412-17C>G)
c.3676-17C>G (n.3676-17C>G)
c.3682-17C>G (n.3682-17C>G)
c.1807-17C>G (n.1807-17C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129314638C>TCA2740091476LAMA2c.3412-17C>T (n.3412-17C>T)
c.3676-17C>T (n.3676-17C>T)
c.3682-17C>T (n.3682-17C>T)
c.1807-17C>T (n.1807-17C>T)
 ClinVar
6g.129314640C>GCA2554460366LAMA2c.3412-15C>G (n.3412-15C>G)
c.3676-15C>G (n.3676-15C>G)
c.3682-15C>G (n.3682-15C>G)
c.1807-15C>G (n.1807-15C>G)
6g.129314640C>TCA2580074947LAMA2c.3412-15C>T (n.3412-15C>T)
c.3676-15C>T (n.3676-15C>T)
c.3682-15C>T (n.3682-15C>T)
c.1807-15C>T (n.1807-15C>T)
 ClinVar
6g.129314641T>ACA2680319144LAMA2c.3412-14T>A (n.3412-14T>A)
c.3676-14T>A (n.3676-14T>A)
c.3682-14T>A (n.3682-14T>A)
c.1807-14T>A (n.1807-14T>A)
 gnomAD v4
6g.129314641T>CCA1663078382LAMA2c.3412-14T>C (n.3412-14T>C)
c.3676-14T>C (n.3676-14T>C)
c.3682-14T>C (n.3682-14T>C)
c.1807-14T>C (n.1807-14T>C)
 ClinVar dbSNP gnomAD v4
6g.129314641T=CA1663078380LAMA2c.3412-14T= (n.3412-14T=)
c.3676-14T= (n.3676-14T=)
c.3682-14T= (n.3682-14T=)
c.1807-14T= (n.1807-14T=)
6g.129314643G>CCA2680319145LAMA2c.3412-12G>C (n.3412-12G>C)
c.3676-12G>C (n.3676-12G>C)
c.3682-12G>C (n.3682-12G>C)
c.1807-12G>C (n.1807-12G>C)
 gnomAD v4
6g.129314643G>TCA2578737075LAMA2c.3412-12G>T (n.3412-12G>T)
c.3676-12G>T (n.3676-12G>T)
c.3682-12G>T (n.3682-12G>T)
c.1807-12G>T (n.1807-12G>T)
 gnomAD v4
6g.129314645C>ACA2680319146LAMA2c.3412-10C>A (n.3412-10C>A)
c.3676-10C>A (n.3676-10C>A)
c.3682-10C>A (n.3682-10C>A)
c.1807-10C>A (n.1807-10C>A)
 gnomAD v4
6g.129314646T>CCA2680319147LAMA2c.3412-9T>C (n.3412-9T>C)
c.3676-9T>C (n.3676-9T>C)
c.3682-9T>C (n.3682-9T>C)
c.1807-9T>C (n.1807-9T>C)
 gnomAD v4
6g.129314646T>GCA2680319148LAMA2c.3412-9T>G (n.3412-9T>G)
c.3676-9T>G (n.3676-9T>G)
c.3682-9T>G (n.3682-9T>G)
c.1807-9T>G (n.1807-9T>G)
 gnomAD v4
6g.129314648T>CCA2580075041LAMA2c.3412-7T>C (n.3412-7T>C)
c.3676-7T>C (n.3676-7T>C)
c.3682-7T>C (n.3682-7T>C)
c.1807-7T>C (n.1807-7T>C)
 ClinVar
6g.129314649C=CA1663078383LAMA2c.3412-6C= (n.3412-6C=)
c.3676-6C= (n.3676-6C=)
c.3682-6C= (n.3682-6C=)
c.1807-6C= (n.1807-6C=)
6g.129314649C>GCA2578737076LAMA2c.3412-6C>G (n.3412-6C>G)
c.3676-6C>G (n.3676-6C>G)
c.3682-6C>G (n.3682-6C>G)
c.1807-6C>G (n.1807-6C>G)
 gnomAD v4
6g.129314649C>TCA3993258LAMA2c.3412-6C>T (n.3412-6C>T)
c.3676-6C>T (n.3676-6C>T)
c.3682-6C>T (n.3682-6C>T)
c.1807-6C>T (n.1807-6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129314650C>TCA2580075042LAMA2c.3412-5C>T (n.3412-5C>T)
c.3676-5C>T (n.3676-5C>T)
c.3682-5C>T (n.3682-5C>T)
c.1807-5C>T (n.1807-5C>T)
 ClinVar gnomAD v4
6g.129314652C>ACA570053441LAMA2c.3412-3C>A (n.3412-3C>A)
c.3676-3C>A (n.3676-3C>A)
c.3682-3C>A (n.3682-3C>A)
c.1807-3C>A (n.1807-3C>A)
 dbSNP gnomAD v2 gnomAD v4
6g.129314652C=CA1663078388LAMA2c.3412-3C= (n.3412-3C=)
c.3676-3C= (n.3676-3C=)
c.3682-3C= (n.3682-3C=)
c.1807-3C= (n.1807-3C=)
6g.129314652C>TCA2680319149LAMA2c.3412-3C>T (n.3412-3C>T)
c.3676-3C>T (n.3676-3C>T)
c.3682-3C>T (n.3682-3C>T)
c.1807-3C>T (n.1807-3C>T)
 gnomAD v4
6g.129314653A=CA1663078395LAMA2c.3412-2A= (n.3412-2A=)
c.3676-2A= (n.3676-2A=)
c.3682-2A= (n.3682-2A=)
c.1807-2A= (n.1807-2A=)
6g.129314653A>CCA365612164LAMA2c.3412-2A>C (n.3412-2A>C)
c.3676-2A>C (n.3676-2A>C)
c.3682-2A>C (n.3682-2A>C)
c.1807-2A>C (n.1807-2A>C)
 ClinVar dbSNP
6g.129314653A>GCA365612165LAMA2c.3412-2A>G (n.3412-2A>G)
c.3676-2A>G (n.3676-2A>G)
c.3682-2A>G (n.3682-2A>G)
c.1807-2A>G (n.1807-2A>G)
 gnomAD v4
6g.129314653A>TCA365612166LAMA2c.3412-2A>T (n.3412-2A>T)
c.3676-2A>T (n.3676-2A>T)
c.3682-2A>T (n.3682-2A>T)
c.1807-2A>T (n.1807-2A>T)
6g.129314654G>ACA365612167LAMA2c.3412-1G>A (n.3412-1G>A)
c.3676-1G>A (n.3676-1G>A)
c.3682-1G>A (n.3682-1G>A)
c.1807-1G>A (n.1807-1G>A)
6g.129314654G>CCA365612168LAMA2c.3412-1G>C (n.3412-1G>C)
c.3676-1G>C (n.3676-1G>C)
c.3682-1G>C (n.3682-1G>C)
c.1807-1G>C (n.1807-1G>C)
6g.129314654G>TCA365612169LAMA2c.3412-1G>T (n.3412-1G>T)
c.3676-1G>T (n.3676-1G>T)
c.3682-1G>T (n.3682-1G>T)
c.1807-1G>T (n.1807-1G>T)
6g.129314655G>ACA146115LAMA2c.3412G>A (p.Val1138Met)
c.3676G>A (p.Val1226Met)
c.3682G>A (p.Val1228Met)
c.1807G>A (p.Val603Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129314655G>CCA365612171LAMA2c.3412G>C (p.Val1138Leu)
c.3676G>C (p.Val1226Leu)
c.3682G>C (p.Val1228Leu)
c.1807G>C (p.Val603Leu)
6g.129314655G=CA1663078404LAMA2c.3412G= (p.Val1138=)
c.3676G= (p.Val1226=)
c.3682G= (p.Val1228=)
c.1807G= (p.Val603=)
6g.129314655G>TCA365612170LAMA2c.3412G>T (p.Val1138Leu)
c.3676G>T (p.Val1226Leu)
c.3682G>T (p.Val1228Leu)
c.1807G>T (p.Val603Leu)
6g.129314656T>ACA365612173LAMA2c.3413T>A (p.Val1138Glu)
c.3677T>A (p.Val1226Glu)
c.3683T>A (p.Val1228Glu)
c.1808T>A (p.Val603Glu)
 gnomAD v4
6g.129314656T>CCA365612172LAMA2c.3413T>C (p.Val1138Ala)
c.3677T>C (p.Val1226Ala)
c.3683T>C (p.Val1228Ala)
c.1808T>C (p.Val603Ala)
6g.129314656T>GCA365612174LAMA2c.3413T>G (p.Val1138Gly)
c.3677T>G (p.Val1226Gly)
c.3683T>G (p.Val1228Gly)
c.1808T>G (p.Val603Gly)
6g.129314657G>ACA451936602LAMA2c.3414G>A (p.Val1138=)
c.3678G>A (p.Val1226=)
c.3684G>A (p.Val1228=)
c.1809G>A (p.Val603=)
 dbSNP gnomAD v4
6g.129314657G>CCA451936601LAMA2c.3414G>C (p.Val1138=)
c.3678G>C (p.Val1226=)
c.3684G>C (p.Val1228=)
c.1809G>C (p.Val603=)
6g.129314657G=CA1663078412LAMA2c.3414G= (p.Val1138=)
c.3678G= (p.Val1226=)
c.3684G= (p.Val1228=)
c.1809G= (p.Val603=)
6g.129314657G>TCA451936600LAMA2c.3414G>T (p.Val1138=)
c.3678G>T (p.Val1226=)
c.3684G>T (p.Val1228=)
c.1809G>T (p.Val603=)
6g.129314658A=CA1663078416LAMA2c.3415A= (p.Asn1139=)
c.3679A= (p.Asn1227=)
c.3685A= (p.Asn1229=)
c.1810A= (p.Asn604=)
6g.129314658A>CCA365612175LAMA2c.3415A>C (p.Asn1139His)
c.3679A>C (p.Asn1227His)
c.3685A>C (p.Asn1229His)
c.1810A>C (p.Asn604His)
6g.129314658A>GCA365612176LAMA2c.3415A>G (p.Asn1139Asp)
c.3679A>G (p.Asn1227Asp)
c.3685A>G (p.Asn1229Asp)
c.1810A>G (p.Asn604Asp)
6g.129314658A>TCA365612177LAMA2c.3415A>T (p.Asn1139Tyr)
c.3679A>T (p.Asn1227Tyr)
c.3685A>T (p.Asn1229Tyr)
c.1810A>T (p.Asn604Tyr)
 dbSNP
6g.129314659A>CCA365612178LAMA2c.3416A>C (p.Asn1139Thr)
c.3680A>C (p.Asn1227Thr)
c.3686A>C (p.Asn1229Thr)
c.1811A>C (p.Asn604Thr)
6g.129314659A>GCA365612179LAMA2c.3416A>G (p.Asn1139Ser)
c.3680A>G (p.Asn1227Ser)
c.3686A>G (p.Asn1229Ser)
c.1811A>G (p.Asn604Ser)
6g.129314659A>TCA365612180LAMA2c.3416A>T (p.Asn1139Ile)
c.3680A>T (p.Asn1227Ile)
c.3686A>T (p.Asn1229Ile)
c.1811A>T (p.Asn604Ile)
6g.129314660T>ACA365612182LAMA2c.3417T>A (p.Asn1139Lys)
c.3681T>A (p.Asn1227Lys)
c.3687T>A (p.Asn1229Lys)
c.1812T>A (p.Asn604Lys)
6g.129314660T>CCA451936603LAMA2c.3417T>C (p.Asn1139=)
c.3681T>C (p.Asn1227=)
c.3687T>C (p.Asn1229=)
c.1812T>C (p.Asn604=)
6g.129314660T>GCA365612181LAMA2c.3417T>G (p.Asn1139Lys)
c.3681T>G (p.Asn1227Lys)
c.3687T>G (p.Asn1229Lys)
c.1812T>G (p.Asn604Lys)
6g.129314661G>ACA365612183LAMA2c.3418G>A (p.Val1140Met)
c.3682G>A (p.Val1228Met)
c.3688G>A (p.Val1230Met)
c.1813G>A (p.Val605Met)
6g.129314661G>CCA365612184LAMA2c.3418G>C (p.Val1140Leu)
c.3682G>C (p.Val1228Leu)
c.3688G>C (p.Val1230Leu)
c.1813G>C (p.Val605Leu)
6g.129314661G=CA1663078419LAMA2c.3418G= (p.Val1140=)
c.3682G= (p.Val1228=)
c.3688G= (p.Val1230=)
c.1813G= (p.Val605=)
6g.129314661G>TCA365612185LAMA2c.3418G>T (p.Val1140Leu)
c.3682G>T (p.Val1228Leu)
c.3688G>T (p.Val1230Leu)
c.1813G>T (p.Val605Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.129314662T>ACA365612186LAMA2c.3419T>A (p.Val1140Glu)
c.3683T>A (p.Val1228Glu)
c.3689T>A (p.Val1230Glu)
c.1814T>A (p.Val605Glu)
6g.129314662T>CCA365612187LAMA2c.3419T>C (p.Val1140Ala)
c.3683T>C (p.Val1228Ala)
c.3689T>C (p.Val1230Ala)
c.1814T>C (p.Val605Ala)
6g.129314662T>GCA365612188LAMA2c.3419T>G (p.Val1140Gly)
c.3683T>G (p.Val1228Gly)
c.3689T>G (p.Val1230Gly)
c.1814T>G (p.Val605Gly)
6g.129314663G>ACA451936604LAMA2c.3420G>A (p.Val1140=)
c.3684G>A (p.Val1228=)
c.3690G>A (p.Val1230=)
c.1815G>A (p.Val605=)
6g.129314663G>CCA451936605LAMA2c.3420G>C (p.Val1140=)
c.3684G>C (p.Val1228=)
c.3690G>C (p.Val1230=)
c.1815G>C (p.Val605=)
 ClinVar
6g.129314663G>TCA451936606LAMA2c.3420G>T (p.Val1140=)
c.3684G>T (p.Val1228=)
c.3690G>T (p.Val1230=)
c.1815G>T (p.Val605=)
6g.129314664delCA2580075044LAMA2c.3421del (p.Glu1141LysfsTer?)
c.3685del (p.Glu1229LysfsTer?)
c.3691del (p.Glu1231LysfsTer?)
c.1816del (p.Glu606LysfsTer?)
 ClinVar
6g.129314665_129314668delCA2578737077LAMA2c.3422_3425del (p.Glu1141AlafsTer?)
c.3686_3689del (p.Glu1229AlafsTer?)
c.3692_3695del (p.Glu1231AlafsTer?)
c.1817_1820del (p.Glu606AlafsTer?)
6g.129314664G>ACA365612189LAMA2c.3421G>A (p.Glu1141Lys)
c.3685G>A (p.Glu1229Lys)
c.3691G>A (p.Glu1231Lys)
c.1816G>A (p.Glu606Lys)
6g.129314664G>CCA365612191LAMA2c.3421G>C (p.Glu1141Gln)
c.3685G>C (p.Glu1229Gln)
c.3691G>C (p.Glu1231Gln)
c.1816G>C (p.Glu606Gln)
6g.129314664G>TCA365612190LAMA2c.3421G>T (p.Glu1141Ter)
c.3685G>T (p.Glu1229Ter)
c.3691G>T (p.Glu1231Ter)
c.1816G>T (p.Glu606Ter)
6g.129314665A>CCA365612192LAMA2c.3422A>C (p.Glu1141Ala)
c.3686A>C (p.Glu1229Ala)
c.3692A>C (p.Glu1231Ala)
c.1817A>C (p.Glu606Ala)
6g.129314665A>GCA365612193LAMA2c.3422A>G (p.Glu1141Gly)
c.3686A>G (p.Glu1229Gly)
c.3692A>G (p.Glu1231Gly)
c.1817A>G (p.Glu606Gly)
6g.129314665A>TCA365612194LAMA2c.3422A>T (p.Glu1141Val)
c.3686A>T (p.Glu1229Val)
c.3692A>T (p.Glu1231Val)
c.1817A>T (p.Glu606Val)
6g.129314666A>CCA365612195LAMA2c.3423A>C (p.Glu1141Asp)
c.3687A>C (p.Glu1229Asp)
c.3693A>C (p.Glu1231Asp)
c.1818A>C (p.Glu606Asp)
6g.129314666A>GCA451936607LAMA2c.3423A>G (p.Glu1141=)
c.3687A>G (p.Glu1229=)
c.3693A>G (p.Glu1231=)
c.1818A>G (p.Glu606=)
6g.129314666A>TCA365612196LAMA2c.3423A>T (p.Glu1141Asp)
c.3687A>T (p.Glu1229Asp)
c.3693A>T (p.Glu1231Asp)
c.1818A>T (p.Glu606Asp)
6g.129314667G>ACA365612197LAMA2c.3424G>A (p.Gly1142Ser)
c.3688G>A (p.Gly1230Ser)
c.3694G>A (p.Gly1232Ser)
c.1819G>A (p.Gly607Ser)
6g.129314667G>CCA365612198LAMA2c.3424G>C (p.Gly1142Arg)
c.3688G>C (p.Gly1230Arg)
c.3694G>C (p.Gly1232Arg)
c.1819G>C (p.Gly607Arg)
6g.129314667G>TCA365612199LAMA2c.3424G>T (p.Gly1142Cys)
c.3688G>T (p.Gly1230Cys)
c.3694G>T (p.Gly1232Cys)
c.1819G>T (p.Gly607Cys)
6g.129314668G>ACA365612200LAMA2c.3425G>A (p.Gly1142Asp)
c.3689G>A (p.Gly1230Asp)
c.3695G>A (p.Gly1232Asp)
c.1820G>A (p.Gly607Asp)
 gnomAD v4 COSMIC
6g.129314668G>CCA3993259LAMA2c.3425G>C (p.Gly1142Ala)
c.3689G>C (p.Gly1230Ala)
c.3695G>C (p.Gly1232Ala)
c.1820G>C (p.Gly607Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129314668G=CA1663078422LAMA2c.3425G= (p.Gly1142=)
c.3689G= (p.Gly1230=)
c.3695G= (p.Gly1232=)
c.1820G= (p.Gly607=)
6g.129314668G>TCA365612201LAMA2c.3425G>T (p.Gly1142Val)
c.3689G>T (p.Gly1230Val)
c.3695G>T (p.Gly1232Val)
c.1820G>T (p.Gly607Val)
 gnomAD v4
6g.129314669C>ACA451936608LAMA2c.3426C>A (p.Gly1142=)
c.3690C>A (p.Gly1230=)
c.3696C>A (p.Gly1232=)
c.1821C>A (p.Gly607=)
6g.129314669C>GCA451936609LAMA2c.3426C>G (p.Gly1142=)
c.3690C>G (p.Gly1230=)
c.3696C>G (p.Gly1232=)
c.1821C>G (p.Gly607=)
6g.129314669C>TCA451936610LAMA2c.3426C>T (p.Gly1142=)
c.3690C>T (p.Gly1230=)
c.3696C>T (p.Gly1232=)
c.1821C>T (p.Gly607=)
 ClinVar gnomAD v4
6g.129314670A>CCA365612204LAMA2c.3427A>C (p.Ile1143Leu)
c.3691A>C (p.Ile1231Leu)
c.3697A>C (p.Ile1233Leu)
c.1822A>C (p.Ile608Leu)
6g.129314670A>GCA365612203LAMA2c.3427A>G (p.Ile1143Val)
c.3691A>G (p.Ile1231Val)
c.3697A>G (p.Ile1233Val)
c.1822A>G (p.Ile608Val)
6g.129314670A>TCA365612202LAMA2c.3427A>T (p.Ile1143Phe)
c.3691A>T (p.Ile1231Phe)
c.3697A>T (p.Ile1233Phe)
c.1822A>T (p.Ile608Phe)
6g.129314671T>ACA365612205LAMA2c.3428T>A (p.Ile1143Asn)
c.3692T>A (p.Ile1231Asn)
c.3698T>A (p.Ile1233Asn)
c.1823T>A (p.Ile608Asn)
6g.129314671T>CCA3993260LAMA2c.3428T>C (p.Ile1143Thr)
c.3692T>C (p.Ile1231Thr)
c.3698T>C (p.Ile1233Thr)
c.1823T>C (p.Ile608Thr)
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.129314671T>GCA365612206LAMA2c.3428T>G (p.Ile1143Ser)
c.3692T>G (p.Ile1231Ser)
c.3698T>G (p.Ile1233Ser)
c.1823T>G (p.Ile608Ser)
6g.129314671T=CA1663078423LAMA2c.3428T= (p.Ile1143=)
c.3692T= (p.Ile1231=)
c.3698T= (p.Ile1233=)
c.1823T= (p.Ile608=)
6g.129314672C>ACA3993261LAMA2c.3429C>A (p.Ile1143=)
c.3693C>A (p.Ile1231=)
c.3699C>A (p.Ile1233=)
c.1824C>A (p.Ile608=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129314672C=CA1663078428LAMA2c.3429C= (p.Ile1143=)
c.3693C= (p.Ile1231=)
c.3699C= (p.Ile1233=)
c.1824C= (p.Ile608=)
6g.129314672C>GCA365612207LAMA2c.3429C>G (p.Ile1143Met)
c.3693C>G (p.Ile1231Met)
c.3699C>G (p.Ile1233Met)
c.1824C>G (p.Ile608Met)
6g.129314672C>TCA146913303LAMA2c.3429C>T (p.Ile1143=)
c.3693C>T (p.Ile1231=)
c.3699C>T (p.Ile1233=)
c.1824C>T (p.Ile608=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129314673C>ACA365612208LAMA2c.3430C>A (p.His1144Asn)
c.3694C>A (p.His1232Asn)
c.3700C>A (p.His1234Asn)
c.1825C>A (p.His609Asn)
6g.129314673C>GCA365612209LAMA2c.3430C>G (p.His1144Asp)
c.3694C>G (p.His1232Asp)
c.3700C>G (p.His1234Asp)
c.1825C>G (p.His609Asp)
6g.129314673C>TCA365612210LAMA2c.3430C>T (p.His1144Tyr)
c.3694C>T (p.His1232Tyr)
c.3700C>T (p.His1234Tyr)
c.1825C>T (p.His609Tyr)
6g.129314674A>CCA365612211LAMA2c.3431A>C (p.His1144Pro)
c.3695A>C (p.His1232Pro)
c.3701A>C (p.His1234Pro)
c.1826A>C (p.His609Pro)
6g.129314674A>GCA365612212LAMA2c.3431A>G (p.His1144Arg)
c.3695A>G (p.His1232Arg)
c.3701A>G (p.His1234Arg)
c.1826A>G (p.His609Arg)
6g.129314674A>TCA365612213LAMA2c.3431A>T (p.His1144Leu)
c.3695A>T (p.His1232Leu)
c.3701A>T (p.His1234Leu)
c.1826A>T (p.His609Leu)
6g.129314675C>ACA365612214LAMA2c.3432C>A (p.His1144Gln)
c.3696C>A (p.His1232Gln)
c.3702C>A (p.His1234Gln)
c.1827C>A (p.His609Gln)
6g.129314675C=CA1663078433LAMA2c.3432C= (p.His1144=)
c.3696C= (p.His1232=)
c.3702C= (p.His1234=)
c.1827C= (p.His609=)
6g.129314675C>GCA365612215LAMA2c.3432C>G (p.His1144Gln)
c.3696C>G (p.His1232Gln)
c.3702C>G (p.His1234Gln)
c.1827C>G (p.His609Gln)
6g.129314675C>TCA451936611LAMA2c.3432C>T (p.His1144=)
c.3696C>T (p.His1232=)
c.3702C>T (p.His1234=)
c.1827C>T (p.His609=)
 ClinVar dbSNP
6g.129314676T>ACA365612218LAMA2c.3433T>A (p.Cys1145Ser)
c.3697T>A (p.Cys1233Ser)
c.3703T>A (p.Cys1235Ser)
c.1828T>A (p.Cys610Ser)
6g.129314676T>CCA365612216LAMA2c.3433T>C (p.Cys1145Arg)
c.3697T>C (p.Cys1233Arg)
c.3703T>C (p.Cys1235Arg)
c.1828T>C (p.Cys610Arg)
 COSMIC
6g.129314676T>GCA365612217LAMA2c.3433T>G (p.Cys1145Gly)
c.3697T>G (p.Cys1233Gly)
c.3703T>G (p.Cys1235Gly)
c.1828T>G (p.Cys610Gly)
6g.129314677G>ACA3993262LAMA2c.3434G>A (p.Cys1145Tyr)
c.3698G>A (p.Cys1233Tyr)
c.3704G>A (p.Cys1235Tyr)
c.1829G>A (p.Cys610Tyr)
 dbSNP ExAC gnomAD v2
6g.129314677G>CCA365612219LAMA2c.3434G>C (p.Cys1145Ser)
c.3698G>C (p.Cys1233Ser)
c.3704G>C (p.Cys1235Ser)
c.1829G>C (p.Cys610Ser)
6g.129314677G=CA1663078434LAMA2c.3434G= (p.Cys1145=)
c.3698G= (p.Cys1233=)
c.3704G= (p.Cys1235=)
c.1829G= (p.Cys610=)
6g.129314677G>TCA365612220LAMA2c.3434G>T (p.Cys1145Phe)
c.3698G>T (p.Cys1233Phe)
c.3704G>T (p.Cys1235Phe)
c.1829G>T (p.Cys610Phe)
6g.129314678T>ACA365612221LAMA2c.3435T>A (p.Cys1145Ter)
c.3699T>A (p.Cys1233Ter)
c.3705T>A (p.Cys1235Ter)
c.1830T>A (p.Cys610Ter)
6g.129314678T>CCA451936612LAMA2c.3435T>C (p.Cys1145=)
c.3699T>C (p.Cys1233=)
c.3705T>C (p.Cys1235=)
c.1830T>C (p.Cys610=)
 gnomAD v4
6g.129314678T>GCA365612222LAMA2c.3435T>G (p.Cys1145Trp)
c.3699T>G (p.Cys1233Trp)
c.3705T>G (p.Cys1235Trp)
c.1830T>G (p.Cys610Trp)
 ClinVar dbSNP
6g.129314678T=CA1663078435LAMA2c.3435T= (p.Cys1145=)
c.3699T= (p.Cys1233=)
c.3705T= (p.Cys1235=)
c.1830T= (p.Cys610=)
6g.129314679G>ACA365612223LAMA2c.3436G>A (p.Asp1146Asn)
c.3700G>A (p.Asp1234Asn)
c.3706G>A (p.Asp1236Asn)
c.1831G>A (p.Asp611Asn)
6g.129314679G>CCA365612224LAMA2c.3436G>C (p.Asp1146His)
c.3700G>C (p.Asp1234His)
c.3706G>C (p.Asp1236His)
c.1831G>C (p.Asp611His)
6g.129314679G>TCA365612225LAMA2c.3436G>T (p.Asp1146Tyr)
c.3700G>T (p.Asp1234Tyr)
c.3706G>T (p.Asp1236Tyr)
c.1831G>T (p.Asp611Tyr)
6g.129314680A>CCA365612226LAMA2c.3437A>C (p.Asp1146Ala)
c.3701A>C (p.Asp1234Ala)
c.3707A>C (p.Asp1236Ala)
c.1832A>C (p.Asp611Ala)
 ClinVar
6g.129314680A>GCA365612227LAMA2c.3437A>G (p.Asp1146Gly)
c.3701A>G (p.Asp1234Gly)
c.3707A>G (p.Asp1236Gly)
c.1832A>G (p.Asp611Gly)
6g.129314680A>TCA365612228LAMA2c.3437A>T (p.Asp1146Val)
c.3701A>T (p.Asp1234Val)
c.3707A>T (p.Asp1236Val)
c.1832A>T (p.Asp611Val)
6g.129314681C>ACA365612229LAMA2c.3438C>A (p.Asp1146Glu)
c.3702C>A (p.Asp1234Glu)
c.3708C>A (p.Asp1236Glu)
c.1833C>A (p.Asp611Glu)
6g.129314681C>GCA365612230LAMA2c.3438C>G (p.Asp1146Glu)
c.3702C>G (p.Asp1234Glu)
c.3708C>G (p.Asp1236Glu)
c.1833C>G (p.Asp611Glu)
6g.129314681C>TCA451936613LAMA2c.3438C>T (p.Asp1146=)
c.3702C>T (p.Asp1234=)
c.3708C>T (p.Asp1236=)
c.1833C>T (p.Asp611=)
6g.129314682A>CCA451936614LAMA2c.3439A>C (p.Arg1147=)
c.3703A>C (p.Arg1235=)
c.3709A>C (p.Arg1237=)
c.1834A>C (p.Arg612=)
6g.129314682A>GCA365612231LAMA2c.3439A>G (p.Arg1147Gly)
c.3703A>G (p.Arg1235Gly)
c.3709A>G (p.Arg1237Gly)
c.1834A>G (p.Arg612Gly)
 gnomAD v4
6g.129314682A>TCA365612232LAMA2c.3439A>T (p.Arg1147Ter)
c.3703A>T (p.Arg1235Ter)
c.3709A>T (p.Arg1237Ter)
c.1834A>T (p.Arg612Ter)
6g.129314683G>ACA365612233LAMA2c.3440G>A (p.Arg1147Lys)
c.3704G>A (p.Arg1235Lys)
c.3710G>A (p.Arg1237Lys)
c.1835G>A (p.Arg612Lys)
6g.129314683G>CCA365612235LAMA2c.3440G>C (p.Arg1147Thr)
c.3704G>C (p.Arg1235Thr)
c.3710G>C (p.Arg1237Thr)
c.1835G>C (p.Arg612Thr)
6g.129314683G=CA1663078438LAMA2c.3440G= (p.Arg1147=)
c.3704G= (p.Arg1235=)
c.3710G= (p.Arg1237=)
c.1835G= (p.Arg612=)
6g.129314683G>TCA365612234LAMA2c.3440G>T (p.Arg1147Ile)
c.3704G>T (p.Arg1235Ile)
c.3710G>T (p.Arg1237Ile)
c.1835G>T (p.Arg612Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.129314684A=CA1663078441LAMA2c.3441A= (p.Arg1147=)
c.3705A= (p.Arg1235=)
c.3711A= (p.Arg1237=)
c.1836A= (p.Arg612=)
6g.129314684A>CCA365612236LAMA2c.3441A>C (p.Arg1147Ser)
c.3705A>C (p.Arg1235Ser)
c.3711A>C (p.Arg1237Ser)
c.1836A>C (p.Arg612Ser)
6g.129314684A>GCA3993263LAMA2c.3441A>G (p.Arg1147=)
c.3705A>G (p.Arg1235=)
c.3711A>G (p.Arg1237=)
c.1836A>G (p.Arg612=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129314684A>TCA365612237LAMA2c.3441A>T (p.Arg1147Ser)
c.3705A>T (p.Arg1235Ser)
c.3711A>T (p.Arg1237Ser)
c.1836A>T (p.Arg612Ser)
6g.129314685T>ACA365612238LAMA2c.3442T>A (p.Cys1148Ser)
c.3706T>A (p.Cys1236Ser)
c.3712T>A (p.Cys1238Ser)
c.1837T>A (p.Cys613Ser)
6g.129314685T>CCA365612239LAMA2c.3442T>C (p.Cys1148Arg)
c.3706T>C (p.Cys1236Arg)
c.3712T>C (p.Cys1238Arg)
c.1837T>C (p.Cys613Arg)
6g.129314685T>GCA365612240LAMA2c.3442T>G (p.Cys1148Gly)
c.3706T>G (p.Cys1236Gly)
c.3712T>G (p.Cys1238Gly)
c.1837T>G (p.Cys613Gly)
6g.129314686G>ACA365612241LAMA2c.3443G>A (p.Cys1148Tyr)
c.3707G>A (p.Cys1236Tyr)
c.3713G>A (p.Cys1238Tyr)
c.1838G>A (p.Cys613Tyr)
6g.129314686G>CCA365612242LAMA2c.3443G>C (p.Cys1148Ser)
c.3707G>C (p.Cys1236Ser)
c.3713G>C (p.Cys1238Ser)
c.1838G>C (p.Cys613Ser)
6g.129314686G>TCA365612243LAMA2c.3443G>T (p.Cys1148Phe)
c.3707G>T (p.Cys1236Phe)
c.3713G>T (p.Cys1238Phe)
c.1838G>T (p.Cys613Phe)
6g.129314687C>ACA365612244LAMA2c.3444C>A (p.Cys1148Ter)
c.3708C>A (p.Cys1236Ter)
c.3714C>A (p.Cys1238Ter)
c.1839C>A (p.Cys613Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129314687C=CA1663078443LAMA2c.3444C= (p.Cys1148=)
c.3708C= (p.Cys1236=)
c.3714C= (p.Cys1238=)
c.1839C= (p.Cys613=)
6g.129314687C>GCA365612245LAMA2c.3444C>G (p.Cys1148Trp)
c.3708C>G (p.Cys1236Trp)
c.3714C>G (p.Cys1238Trp)
c.1839C>G (p.Cys613Trp)
6g.129314687C>TCA451936615LAMA2c.3444C>T (p.Cys1148=)
c.3708C>T (p.Cys1236=)
c.3714C>T (p.Cys1238=)
c.1839C>T (p.Cys613=)
 gnomAD v4
6g.129314688C>ACA451936616LAMA2c.3445C>A (p.Arg1149=)
c.3709C>A (p.Arg1237=)
c.3715C>A (p.Arg1239=)
c.1840C>A (p.Arg614=)
6g.129314688C=CA1663078449LAMA2c.3445C= (p.Arg1149=)
c.3709C= (p.Arg1237=)
c.3715C= (p.Arg1239=)
c.1840C= (p.Arg614=)
6g.129314688C>GCA365612246LAMA2c.3445C>G (p.Arg1149Gly)
c.3709C>G (p.Arg1237Gly)
c.3715C>G (p.Arg1239Gly)
c.1840C>G (p.Arg614Gly)
6g.129314688C>TCA3993264LAMA2c.3445C>T (p.Arg1149Trp)
c.3709C>T (p.Arg1237Trp)
c.3715C>T (p.Arg1239Trp)
c.1840C>T (p.Arg614Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129314688_129314693delinsCGGCCTCA1663078451LAMA2c.3445_3450delinsCGGCCT (p.Arg1149=)
c.3709_3714delinsCGGCCT (p.Arg1237=)
c.3715_3720delinsCGGCCT (p.Arg1239=)
c.1840_1845delinsCGGCCT (p.Arg614=)
6g.129314689G>ACA146913342LAMA2c.3446G>A (p.Arg1149Gln)
c.3710G>A (p.Arg1237Gln)
c.3716G>A (p.Arg1239Gln)
c.1841G>A (p.Arg614Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129314689G>CCA365612248LAMA2c.3446G>C (p.Arg1149Pro)
c.3710G>C (p.Arg1237Pro)
c.3716G>C (p.Arg1239Pro)
c.1841G>C (p.Arg614Pro)
6g.129314689G=CA1663078456LAMA2c.3446G= (p.Arg1149=)
c.3710G= (p.Arg1237=)
c.3716G= (p.Arg1239=)
c.1841G= (p.Arg614=)
6g.129314689G>TCA365612247LAMA2c.3446G>T (p.Arg1149Leu)
c.3710G>T (p.Arg1237Leu)
c.3716G>T (p.Arg1239Leu)
c.1841G>T (p.Arg614Leu)
6g.129314692_129314696delCA916081483LAMA2c.3449_3453del (p.Pro1150GlnfsTer26)
c.3713_3717del (p.Pro1238GlnfsTer26)
c.3719_3723del (p.Pro1240GlnfsTer26)
c.1844_1848del (p.Pro615GlnfsTer26)
 ClinVar dbSNP
6g.129314690G>ACA451936617LAMA2c.3447G>A (p.Arg1149=)
c.3711G>A (p.Arg1237=)
c.3717G>A (p.Arg1239=)
c.1842G>A (p.Arg614=)
 ClinVar dbSNP gnomAD v4
6g.129314690G>CCA451936618LAMA2c.3447G>C (p.Arg1149=)
c.3711G>C (p.Arg1237=)
c.3717G>C (p.Arg1239=)
c.1842G>C (p.Arg614=)
6g.129314690G=CA1663078461LAMA2c.3447G= (p.Arg1149=)
c.3711G= (p.Arg1237=)
c.3717G= (p.Arg1239=)
c.1842G= (p.Arg614=)
6g.129314690G>TCA451936619LAMA2c.3447G>T (p.Arg1149=)
c.3711G>T (p.Arg1237=)
c.3717G>T (p.Arg1239=)
c.1842G>T (p.Arg614=)
6g.129314691C>ACA365612249LAMA2c.3448C>A (p.Pro1150Thr)
c.3712C>A (p.Pro1238Thr)
c.3718C>A (p.Pro1240Thr)
c.1843C>A (p.Pro615Thr)
6g.129314691C=CA1663078464LAMA2c.3448C= (p.Pro1150=)
c.3712C= (p.Pro1238=)
c.3718C= (p.Pro1240=)
c.1843C= (p.Pro615=)
6g.129314691C>GCA365612250LAMA2c.3448C>G (p.Pro1150Ala)
c.3712C>G (p.Pro1238Ala)
c.3718C>G (p.Pro1240Ala)
c.1843C>G (p.Pro615Ala)
6g.129314691C>TCA365612251LAMA2c.3448C>T (p.Pro1150Ser)
c.3712C>T (p.Pro1238Ser)
c.3718C>T (p.Pro1240Ser)
c.1843C>T (p.Pro615Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129314692C>ACA365612252LAMA2c.3449C>A (p.Pro1150His)
c.3713C>A (p.Pro1238His)
c.3719C>A (p.Pro1240His)
c.1844C>A (p.Pro615His)
6g.129314692C=CA1663078466LAMA2c.3449C= (p.Pro1150=)
c.3713C= (p.Pro1238=)
c.3719C= (p.Pro1240=)
c.1844C= (p.Pro615=)
6g.129314692C>GCA365612253LAMA2c.3449C>G (p.Pro1150Arg)
c.3713C>G (p.Pro1238Arg)
c.3719C>G (p.Pro1240Arg)
c.1844C>G (p.Pro615Arg)
6g.129314692C>TCA365612254LAMA2c.3449C>T (p.Pro1150Leu)
c.3713C>T (p.Pro1238Leu)
c.3719C>T (p.Pro1240Leu)
c.1844C>T (p.Pro615Leu)
 dbSNP
6g.129314693T>ACA451936621LAMA2c.3450T>A (p.Pro1150=)
c.3714T>A (p.Pro1238=)
c.3720T>A (p.Pro1240=)
c.1845T>A (p.Pro615=)
6g.129314693T>CCA3993265LAMA2c.3450T>C (p.Pro1150=)
c.3714T>C (p.Pro1238=)
c.3720T>C (p.Pro1240=)
c.1845T>C (p.Pro615=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129314693T>GCA451936620LAMA2c.3450T>G (p.Pro1150=)
c.3714T>G (p.Pro1238=)
c.3720T>G (p.Pro1240=)
c.1845T>G (p.Pro615=)
6g.129314693T=CA1663078469LAMA2c.3450T= (p.Pro1150=)
c.3714T= (p.Pro1238=)
c.3720T= (p.Pro1240=)
c.1845T= (p.Pro615=)
6g.129314694G>ACA365612255LAMA2c.3451G>A (p.Gly1151Ser)
c.3715G>A (p.Gly1239Ser)
c.3721G>A (p.Gly1241Ser)
c.1846G>A (p.Gly616Ser)
6g.129314694G>CCA365612256LAMA2c.3451G>C (p.Gly1151Arg)
c.3715G>C (p.Gly1239Arg)
c.3721G>C (p.Gly1241Arg)
c.1846G>C (p.Gly616Arg)
6g.129314694G>TCA365612257LAMA2c.3451G>T (p.Gly1151Cys)
c.3715G>T (p.Gly1239Cys)
c.3721G>T (p.Gly1241Cys)
c.1846G>T (p.Gly616Cys)
6g.129314695G>ACA146913365LAMA2c.3452G>A (p.Gly1151Asp)
c.3716G>A (p.Gly1239Asp)
c.3722G>A (p.Gly1241Asp)
c.1847G>A (p.Gly616Asp)
 dbSNP gnomAD v3 gnomAD v4
6g.129314695G>CCA365612259LAMA2c.3452G>C (p.Gly1151Ala)
c.3716G>C (p.Gly1239Ala)
c.3722G>C (p.Gly1241Ala)
c.1847G>C (p.Gly616Ala)
6g.129314695G=CA1663078473LAMA2c.3452G= (p.Gly1151=)
c.3716G= (p.Gly1239=)
c.3722G= (p.Gly1241=)
c.1847G= (p.Gly616=)
6g.129314695G>TCA365612258LAMA2c.3452G>T (p.Gly1151Val)
c.3716G>T (p.Gly1239Val)
c.3722G>T (p.Gly1241Val)
c.1847G>T (p.Gly616Val)
6g.129314696C>ACA146913371LAMA2c.3453C>A (p.Gly1151=)
c.3717C>A (p.Gly1239=)
c.3723C>A (p.Gly1241=)
c.1848C>A (p.Gly616=)
 dbSNP
6g.129314696C=CA1663078476LAMA2c.3453C= (p.Gly1151=)
c.3717C= (p.Gly1239=)
c.3723C= (p.Gly1241=)
c.1848C= (p.Gly616=)
6g.129314696C>GCA451936622LAMA2c.3453C>G (p.Gly1151=)
c.3717C>G (p.Gly1239=)
c.3723C>G (p.Gly1241=)
c.1848C>G (p.Gly616=)
 gnomAD v4
6g.129314696C>TCA451936623LAMA2c.3453C>T (p.Gly1151=)
c.3717C>T (p.Gly1239=)
c.3723C>T (p.Gly1241=)
c.1848C>T (p.Gly616=)
6g.129314697A=CA1663078482LAMA2c.3454A= (p.Lys1152=)
c.3718A= (p.Lys1240=)
c.3724A= (p.Lys1242=)
c.1849A= (p.Lys617=)
6g.129314697A>CCA365612260LAMA2c.3454A>C (p.Lys1152Gln)
c.3718A>C (p.Lys1240Gln)
c.3724A>C (p.Lys1242Gln)
c.1849A>C (p.Lys617Gln)
6g.129314697A>GCA365612261LAMA2c.3454A>G (p.Lys1152Glu)
c.3718A>G (p.Lys1240Glu)
c.3724A>G (p.Lys1242Glu)
c.1849A>G (p.Lys617Glu)
6g.129314697A>TCA365612262LAMA2c.3454A>T (p.Lys1152Ter)
c.3718A>T (p.Lys1240Ter)
c.3724A>T (p.Lys1242Ter)
c.1849A>T (p.Lys617Ter)
 ClinVar dbSNP
6g.129314698A>CCA365612263LAMA2c.3455A>C (p.Lys1152Thr)
c.3719A>C (p.Lys1240Thr)
c.3725A>C (p.Lys1242Thr)
c.1850A>C (p.Lys617Thr)
6g.129314698A>GCA365612264LAMA2c.3455A>G (p.Lys1152Arg)
c.3719A>G (p.Lys1240Arg)
c.3725A>G (p.Lys1242Arg)
c.1850A>G (p.Lys617Arg)
6g.129314698A>TCA365612265LAMA2c.3455A>T (p.Lys1152Ile)
c.3719A>T (p.Lys1240Ile)
c.3725A>T (p.Lys1242Ile)
c.1850A>T (p.Lys617Ile)
6g.129314699A>CCA365612266LAMA2c.3456A>C (p.Lys1152Asn)
c.3720A>C (p.Lys1240Asn)
c.3726A>C (p.Lys1242Asn)
c.1851A>C (p.Lys617Asn)
6g.129314699A>GCA451936624LAMA2c.3456A>G (p.Lys1152=)
c.3720A>G (p.Lys1240=)
c.3726A>G (p.Lys1242=)
c.1851A>G (p.Lys617=)
6g.129314699A>TCA365612267LAMA2c.3456A>T (p.Lys1152Asn)
c.3720A>T (p.Lys1240Asn)
c.3726A>T (p.Lys1242Asn)
c.1851A>T (p.Lys617Asn)
6g.129314700T>ACA365612268LAMA2c.3457T>A (p.Phe1153Ile)
c.3721T>A (p.Phe1241Ile)
c.3727T>A (p.Phe1243Ile)
c.1852T>A (p.Phe618Ile)
6g.129314700T>CCA365612269LAMA2c.3457T>C (p.Phe1153Leu)
c.3721T>C (p.Phe1241Leu)
c.3727T>C (p.Phe1243Leu)
c.1852T>C (p.Phe618Leu)
6g.129314700T>GCA365612270LAMA2c.3457T>G (p.Phe1153Val)
c.3721T>G (p.Phe1241Val)
c.3727T>G (p.Phe1243Val)
c.1852T>G (p.Phe618Val)
6g.129314701T>ACA365612271LAMA2c.3458T>A (p.Phe1153Tyr)
c.3722T>A (p.Phe1241Tyr)
c.3728T>A (p.Phe1243Tyr)
c.1853T>A (p.Phe618Tyr)
6g.129314701T>CCA365612272LAMA2c.3458T>C (p.Phe1153Ser)
c.3722T>C (p.Phe1241Ser)
c.3728T>C (p.Phe1243Ser)
c.1853T>C (p.Phe618Ser)
6g.129314701T>GCA365612273LAMA2c.3458T>G (p.Phe1153Cys)
c.3722T>G (p.Phe1241Cys)
c.3728T>G (p.Phe1243Cys)
c.1853T>G (p.Phe618Cys)
6g.129314702C>ACA365612274LAMA2c.3459C>A (p.Phe1153Leu)
c.3723C>A (p.Phe1241Leu)
c.3729C>A (p.Phe1243Leu)
c.1854C>A (p.Phe618Leu)
6g.129314702C=CA1663078491LAMA2c.3459C= (p.Phe1153=)
c.3723C= (p.Phe1241=)
c.3729C= (p.Phe1243=)
c.1854C= (p.Phe618=)
6g.129314702C>GCA365612275LAMA2c.3459C>G (p.Phe1153Leu)
c.3723C>G (p.Phe1241Leu)
c.3729C>G (p.Phe1243Leu)
c.1854C>G (p.Phe618Leu)
6g.129314702C>TCA451936625LAMA2c.3459C>T (p.Phe1153=)
c.3723C>T (p.Phe1241=)
c.3729C>T (p.Phe1243=)
c.1854C>T (p.Phe618=)
 dbSNP COSMIC
6g.129314703G>ACA3993266LAMA2c.3460G>A (p.Gly1154Arg)
c.3724G>A (p.Gly1242Arg)
c.3730G>A (p.Gly1244Arg)
c.1855G>A (p.Gly619Arg)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
6g.129314703G>CCA365612276LAMA2c.3460G>C (p.Gly1154Arg)
c.3724G>C (p.Gly1242Arg)
c.3730G>C (p.Gly1244Arg)
c.1855G>C (p.Gly619Arg)
6g.129314703G=CA1663078499LAMA2c.3460G= (p.Gly1154=)
c.3724G= (p.Gly1242=)
c.3730G= (p.Gly1244=)
c.1855G= (p.Gly619=)
6g.129314703G>TCA365612277LAMA2c.3460G>T (p.Gly1154Ter)
c.3724G>T (p.Gly1242Ter)
c.3730G>T (p.Gly1244Ter)
c.1855G>T (p.Gly619Ter)
6g.129314704G>ACA365612278LAMA2c.3461G>A (p.Gly1154Glu)
c.3725G>A (p.Gly1242Glu)
c.3731G>A (p.Gly1244Glu)
c.1856G>A (p.Gly619Glu)
6g.129314704G>CCA365612279LAMA2c.3461G>C (p.Gly1154Ala)
c.3725G>C (p.Gly1242Ala)
c.3731G>C (p.Gly1244Ala)
c.1856G>C (p.Gly619Ala)
6g.129314704G=CA1663078503LAMA2c.3461G= (p.Gly1154=)
c.3725G= (p.Gly1242=)
c.3731G= (p.Gly1244=)
c.1856G= (p.Gly619=)
6g.129314704G>TCA146913380LAMA2c.3461G>T (p.Gly1154Val)
c.3725G>T (p.Gly1242Val)
c.3731G>T (p.Gly1244Val)
c.1856G>T (p.Gly619Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched