Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129460186_129460187delinsATCA1663188096LAMA2c.6868-14_6868-13delinsAT (n.6868-14_6868-13delinsAT)
c.7132-14_7132-13delinsAT (n.7132-14_7132-13delinsAT)
n.499-14_499-13delinsAT
n.207-14_207-13delinsAT
c.6865-14_6865-13delinsAT (n.6865-14_6865-13delinsAT)
c.7126-14_7126-13delinsAT (n.7126-14_7126-13delinsAT)
c.7138-14_7138-13delinsAT (n.7138-14_7138-13delinsAT)
c.5263-14_5263-13delinsAT (n.5263-14_5263-13delinsAT)
6g.129460189delCA818841474LAMA2c.6868-11del (n.6868-11del)
c.7132-11del (n.7132-11del)
n.499-11del
n.207-11del
c.6865-11del (n.6865-11del)
c.7126-11del (n.7126-11del)
c.7138-11del (n.7138-11del)
c.5263-11del (n.5263-11del)
 dbSNP gnomAD v3 gnomAD v4
6g.129460188T>CCA1094392012LAMA2c.6868-12T>C (n.6868-12T>C)
c.7132-12T>C (n.7132-12T>C)
n.499-12T>C
n.207-12T>C
c.6865-12T>C (n.6865-12T>C)
c.7126-12T>C (n.7126-12T>C)
c.7138-12T>C (n.7138-12T>C)
c.5263-12T>C (n.5263-12T>C)
 dbSNP gnomAD v3 gnomAD v4
6g.129460188T>GCA2680306995LAMA2c.6868-12T>G (n.6868-12T>G)
c.7132-12T>G (n.7132-12T>G)
n.499-12T>G
n.207-12T>G
c.6865-12T>G (n.6865-12T>G)
c.7126-12T>G (n.7126-12T>G)
c.7138-12T>G (n.7138-12T>G)
c.5263-12T>G (n.5263-12T>G)
 gnomAD v4
6g.129460188T=CA1663188099LAMA2c.6868-12T= (n.6868-12T=)
c.7132-12T= (n.7132-12T=)
n.499-12T=
n.207-12T=
c.6865-12T= (n.6865-12T=)
c.7126-12T= (n.7126-12T=)
c.7138-12T= (n.7138-12T=)
c.5263-12T= (n.5263-12T=)
6g.129460190C>ACA1663188103LAMA2c.6868-10C>A (n.6868-10C>A)
c.7132-10C>A (n.7132-10C>A)
n.499-10C>A
n.207-10C>A
c.6865-10C>A (n.6865-10C>A)
c.7126-10C>A (n.7126-10C>A)
c.7138-10C>A (n.7138-10C>A)
c.5263-10C>A (n.5263-10C>A)
 dbSNP
6g.129460190C=CA1663188101LAMA2c.6868-10C= (n.6868-10C=)
c.7132-10C= (n.7132-10C=)
n.499-10C=
n.207-10C=
c.6865-10C= (n.6865-10C=)
c.7126-10C= (n.7126-10C=)
c.7138-10C= (n.7138-10C=)
c.5263-10C= (n.5263-10C=)
6g.129460190C>TCA1663188104LAMA2c.6868-10C>T (n.6868-10C>T)
c.7132-10C>T (n.7132-10C>T)
n.499-10C>T
n.207-10C>T
c.6865-10C>T (n.6865-10C>T)
c.7126-10C>T (n.7126-10C>T)
c.7138-10C>T (n.7138-10C>T)
c.5263-10C>T (n.5263-10C>T)
 dbSNP
6g.129460191T>CCA146888504LAMA2c.6868-9T>C (n.6868-9T>C)
c.7132-9T>C (n.7132-9T>C)
n.499-9T>C
n.207-9T>C
c.6865-9T>C (n.6865-9T>C)
c.7126-9T>C (n.7126-9T>C)
c.7138-9T>C (n.7138-9T>C)
c.5263-9T>C (n.5263-9T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129460191T=CA1663188105LAMA2c.6868-9T= (n.6868-9T=)
c.7132-9T= (n.7132-9T=)
n.499-9T=
n.207-9T=
c.6865-9T= (n.6865-9T=)
c.7126-9T= (n.7126-9T=)
c.7138-9T= (n.7138-9T=)
c.5263-9T= (n.5263-9T=)
6g.129460195T>GCA2578756770LAMA2c.6868-5T>G (n.6868-5T>G)
c.7132-5T>G (n.7132-5T>G)
n.499-5T>G
n.207-5T>G
c.6865-5T>G (n.6865-5T>G)
c.7126-5T>G (n.7126-5T>G)
c.7138-5T>G (n.7138-5T>G)
c.5263-5T>G (n.5263-5T>G)
6g.129460196G>ACA2580074963LAMA2c.6868-4G>A (n.6868-4G>A)
c.7132-4G>A (n.7132-4G>A)
n.499-4G>A
n.207-4G>A
c.6865-4G>A (n.6865-4G>A)
c.7126-4G>A (n.7126-4G>A)
c.7138-4G>A (n.7138-4G>A)
c.5263-4G>A (n.5263-4G>A)
 ClinVar
6g.129460196G=CA1663188106LAMA2c.6868-4G= (n.6868-4G=)
c.7132-4G= (n.7132-4G=)
n.499-4G=
n.207-4G=
c.6865-4G= (n.6865-4G=)
c.7126-4G= (n.7126-4G=)
c.7138-4G= (n.7138-4G=)
c.5263-4G= (n.5263-4G=)
6g.129460196G>TCA146888512LAMA2c.6868-4G>T (n.6868-4G>T)
c.7132-4G>T (n.7132-4G>T)
n.499-4G>T
n.207-4G>T
c.6865-4G>T (n.6865-4G>T)
c.7126-4G>T (n.7126-4G>T)
c.7138-4G>T (n.7138-4G>T)
c.5263-4G>T (n.5263-4G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129460196_129460197insACA2773026623LAMA2c.6868-4_6868-3insA (n.6868-4_6868-3insA)
c.7132-4_7132-3insA (n.7132-4_7132-3insA)
n.499-4_499-3insA
n.207-4_207-3insA
c.6865-4_6865-3insA (n.6865-4_6865-3insA)
c.7126-4_7126-3insA (n.7126-4_7126-3insA)
c.7138-4_7138-3insA (n.7138-4_7138-3insA)
c.5263-4_5263-3insA (n.5263-4_5263-3insA)
6g.129460197C=CA1663188109LAMA2c.6868-3C= (n.6868-3C=)
c.7132-3C= (n.7132-3C=)
n.499-3C=
n.207-3C=
c.6865-3C= (n.6865-3C=)
c.7126-3C= (n.7126-3C=)
c.7138-3C= (n.7138-3C=)
c.5263-3C= (n.5263-3C=)
6g.129460197C>GCA2680306996LAMA2c.6868-3C>G (n.6868-3C>G)
c.7132-3C>G (n.7132-3C>G)
n.499-3C>G
n.207-3C>G
c.6865-3C>G (n.6865-3C>G)
c.7126-3C>G (n.7126-3C>G)
c.7138-3C>G (n.7138-3C>G)
c.5263-3C>G (n.5263-3C>G)
 gnomAD v4
6g.129460197C>TCA570054374LAMA2c.6868-3C>T (n.6868-3C>T)
c.7132-3C>T (n.7132-3C>T)
n.499-3C>T
n.207-3C>T
c.6865-3C>T (n.6865-3C>T)
c.7126-3C>T (n.7126-3C>T)
c.7138-3C>T (n.7138-3C>T)
c.5263-3C>T (n.5263-3C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129460198A>CCA365619004LAMA2c.6868-2A>C (n.6868-2A>C)
c.7132-2A>C (n.7132-2A>C)
n.499-2A>C
n.207-2A>C
c.6865-2A>C (n.6865-2A>C)
c.7126-2A>C (n.7126-2A>C)
c.7138-2A>C (n.7138-2A>C)
c.5263-2A>C (n.5263-2A>C)
6g.129460198A>GCA365619005LAMA2c.6868-2A>G (n.6868-2A>G)
c.7132-2A>G (n.7132-2A>G)
n.499-2A>G
n.207-2A>G
c.6865-2A>G (n.6865-2A>G)
c.7126-2A>G (n.7126-2A>G)
c.7138-2A>G (n.7138-2A>G)
c.5263-2A>G (n.5263-2A>G)
6g.129460198A>TCA365619006LAMA2c.6868-2A>T (n.6868-2A>T)
c.7132-2A>T (n.7132-2A>T)
n.499-2A>T
n.207-2A>T
c.6865-2A>T (n.6865-2A>T)
c.7126-2A>T (n.7126-2A>T)
c.7138-2A>T (n.7138-2A>T)
c.5263-2A>T (n.5263-2A>T)
6g.129460199G>ACA365619007LAMA2c.6868-1G>A (n.6868-1G>A)
c.7132-1G>A (n.7132-1G>A)
n.499-1G>A
n.207-1G>A
c.6865-1G>A (n.6865-1G>A)
c.7126-1G>A (n.7126-1G>A)
c.7138-1G>A (n.7138-1G>A)
c.5263-1G>A (n.5263-1G>A)
6g.129460199G>CCA365619008LAMA2c.6868-1G>C (n.6868-1G>C)
c.7132-1G>C (n.7132-1G>C)
n.499-1G>C
n.207-1G>C
c.6865-1G>C (n.6865-1G>C)
c.7126-1G>C (n.7126-1G>C)
c.7138-1G>C (n.7138-1G>C)
c.5263-1G>C (n.5263-1G>C)
6g.129460199G>TCA365619009LAMA2c.6868-1G>T (n.6868-1G>T)
c.7132-1G>T (n.7132-1G>T)
n.499-1G>T
n.207-1G>T
c.6865-1G>T (n.6865-1G>T)
c.7126-1G>T (n.7126-1G>T)
c.7138-1G>T (n.7138-1G>T)
c.5263-1G>T (n.5263-1G>T)
6g.129460200A>CCA365619010LAMA2c.6868A>C (p.Lys2290Gln)
c.7132A>C (p.Lys2378Gln)
n.499A>C
n.207A>C
c.6865A>C (p.Lys2289Gln)
c.7126A>C (p.Lys2376Gln)
c.7138A>C (p.Lys2380Gln)
c.5263A>C (p.Lys1755Gln)
6g.129460200A>GCA365619016LAMA2c.6868A>G (p.Lys2290Glu)
c.7132A>G (p.Lys2378Glu)
n.499A>G
n.207A>G
c.6865A>G (p.Lys2289Glu)
c.7126A>G (p.Lys2376Glu)
c.7138A>G (p.Lys2380Glu)
c.5263A>G (p.Lys1755Glu)
 gnomAD v4
6g.129460200A>TCA365619012LAMA2c.6868A>T (p.Lys2290Ter)
c.7132A>T (p.Lys2378Ter)
n.499A>T
n.207A>T
c.6865A>T (p.Lys2289Ter)
c.7126A>T (p.Lys2376Ter)
c.7138A>T (p.Lys2380Ter)
c.5263A>T (p.Lys1755Ter)
6g.129460201A=CA1663188111LAMA2c.6869A= (p.Lys2290=)
c.7133A= (p.Lys2378=)
n.500A=
n.208A=
c.6866A= (p.Lys2289=)
c.7127A= (p.Lys2376=)
c.7139A= (p.Lys2380=)
c.5264A= (p.Lys1755=)
6g.129460201A>CCA365619018LAMA2c.6869A>C (p.Lys2290Thr)
c.7133A>C (p.Lys2378Thr)
n.500A>C
n.208A>C
c.6866A>C (p.Lys2289Thr)
c.7127A>C (p.Lys2376Thr)
c.7139A>C (p.Lys2380Thr)
c.5264A>C (p.Lys1755Thr)
6g.129460201A>GCA3994386LAMA2c.6869A>G (p.Lys2290Arg)
c.7133A>G (p.Lys2378Arg)
n.500A>G
n.208A>G
c.6866A>G (p.Lys2289Arg)
c.7127A>G (p.Lys2376Arg)
c.7139A>G (p.Lys2380Arg)
c.5264A>G (p.Lys1755Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129460201A>TCA365619020LAMA2c.6869A>T (p.Lys2290Met)
c.7133A>T (p.Lys2378Met)
n.500A>T
n.208A>T
c.6866A>T (p.Lys2289Met)
c.7127A>T (p.Lys2376Met)
c.7139A>T (p.Lys2380Met)
c.5264A>T (p.Lys1755Met)
6g.129460202G>ACA3994387LAMA2c.6870G>A (p.Lys2290=)
c.7134G>A (p.Lys2378=)
n.501G>A
n.209G>A
c.6867G>A (p.Lys2289=)
c.7128G>A (p.Lys2376=)
c.7140G>A (p.Lys2380=)
c.5265G>A (p.Lys1755=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129460202G>CCA365619023LAMA2c.6870G>C (p.Lys2290Asn)
c.7134G>C (p.Lys2378Asn)
n.501G>C
n.209G>C
c.6867G>C (p.Lys2289Asn)
c.7128G>C (p.Lys2376Asn)
c.7140G>C (p.Lys2380Asn)
c.5265G>C (p.Lys1755Asn)
6g.129460202G=CA1663188115LAMA2c.6870G= (p.Lys2290=)
c.7134G= (p.Lys2378=)
n.501G=
n.209G=
c.6867G= (p.Lys2289=)
c.7128G= (p.Lys2376=)
c.7140G= (p.Lys2380=)
c.5265G= (p.Lys1755=)
6g.129460202G>TCA365619024LAMA2c.6870G>T (p.Lys2290Asn)
c.7134G>T (p.Lys2378Asn)
n.501G>T
n.209G>T
c.6867G>T (p.Lys2289Asn)
c.7128G>T (p.Lys2376Asn)
c.7140G>T (p.Lys2380Asn)
c.5265G>T (p.Lys1755Asn)
6g.129460203G>ACA365619028LAMA2c.6871G>A (p.Ala2291Thr)
c.7135G>A (p.Ala2379Thr)
n.502G>A
n.210G>A
c.6868G>A (p.Ala2290Thr)
c.7129G>A (p.Ala2377Thr)
c.7141G>A (p.Ala2381Thr)
c.5266G>A (p.Ala1756Thr)
 dbSNP gnomAD v3 gnomAD v4
6g.129460203G>CCA365619029LAMA2c.6871G>C (p.Ala2291Pro)
c.7135G>C (p.Ala2379Pro)
n.502G>C
n.210G>C
c.6868G>C (p.Ala2290Pro)
c.7129G>C (p.Ala2377Pro)
c.7141G>C (p.Ala2381Pro)
c.5266G>C (p.Ala1756Pro)
 dbSNP gnomAD v4
6g.129460203G=CA1663188121LAMA2c.6871G= (p.Ala2291=)
c.7135G= (p.Ala2379=)
n.502G=
n.210G=
c.6868G= (p.Ala2290=)
c.7129G= (p.Ala2377=)
c.7141G= (p.Ala2381=)
c.5266G= (p.Ala1756=)
6g.129460203G>TCA365619030LAMA2c.6871G>T (p.Ala2291Ser)
c.7135G>T (p.Ala2379Ser)
n.502G>T
n.210G>T
c.6868G>T (p.Ala2290Ser)
c.7129G>T (p.Ala2377Ser)
c.7141G>T (p.Ala2381Ser)
c.5266G>T (p.Ala1756Ser)
 dbSNP
6g.129460204C>ACA365619031LAMA2c.6872C>A (p.Ala2291Asp)
c.7136C>A (p.Ala2379Asp)
n.503C>A
n.211C>A
c.6869C>A (p.Ala2290Asp)
c.7130C>A (p.Ala2377Asp)
c.7142C>A (p.Ala2381Asp)
c.5267C>A (p.Ala1756Asp)
6g.129460204C>GCA365619032LAMA2c.6872C>G (p.Ala2291Gly)
c.7136C>G (p.Ala2379Gly)
n.503C>G
n.211C>G
c.6869C>G (p.Ala2290Gly)
c.7130C>G (p.Ala2377Gly)
c.7142C>G (p.Ala2381Gly)
c.5267C>G (p.Ala1756Gly)
6g.129460204C>TCA365619034LAMA2c.6872C>T (p.Ala2291Val)
c.7136C>T (p.Ala2379Val)
n.503C>T
n.211C>T
c.6869C>T (p.Ala2290Val)
c.7130C>T (p.Ala2377Val)
c.7142C>T (p.Ala2381Val)
c.5267C>T (p.Ala1756Val)
 COSMIC
6g.129460205T>ACA451924872LAMA2c.6873T>A (p.Ala2291=)
c.7137T>A (p.Ala2379=)
n.504T>A
n.212T>A
c.6870T>A (p.Ala2290=)
c.7131T>A (p.Ala2377=)
c.7143T>A (p.Ala2381=)
c.5268T>A (p.Ala1756=)
6g.129460205T>CCA451924873LAMA2c.6873T>C (p.Ala2291=)
c.7137T>C (p.Ala2379=)
n.504T>C
n.212T>C
c.6870T>C (p.Ala2290=)
c.7131T>C (p.Ala2377=)
c.7143T>C (p.Ala2381=)
c.5268T>C (p.Ala1756=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129460205T>GCA451924874LAMA2c.6873T>G (p.Ala2291=)
c.7137T>G (p.Ala2379=)
n.504T>G
n.212T>G
c.6870T>G (p.Ala2290=)
c.7131T>G (p.Ala2377=)
c.7143T>G (p.Ala2381=)
c.5268T>G (p.Ala1756=)
6g.129460205T=CA1663188126LAMA2c.6873T= (p.Ala2291=)
c.7137T= (p.Ala2379=)
n.504T=
n.212T=
c.6870T= (p.Ala2290=)
c.7131T= (p.Ala2377=)
c.7143T= (p.Ala2381=)
c.5268T= (p.Ala1756=)
6g.129460206G>ACA365619038LAMA2c.6874G>A (p.Asp2292Asn)
c.7138G>A (p.Asp2380Asn)
n.505G>A
n.213G>A
c.6871G>A (p.Asp2291Asn)
c.7132G>A (p.Asp2378Asn)
c.7144G>A (p.Asp2382Asn)
c.5269G>A (p.Asp1757Asn)
 gnomAD v4
6g.129460206G>CCA365619035LAMA2c.6874G>C (p.Asp2292His)
c.7138G>C (p.Asp2380His)
n.505G>C
n.213G>C
c.6871G>C (p.Asp2291His)
c.7132G>C (p.Asp2378His)
c.7144G>C (p.Asp2382His)
c.5269G>C (p.Asp1757His)
6g.129460206G>TCA365619037LAMA2c.6874G>T (p.Asp2292Tyr)
c.7138G>T (p.Asp2380Tyr)
n.505G>T
n.213G>T
c.6871G>T (p.Asp2291Tyr)
c.7132G>T (p.Asp2378Tyr)
c.7144G>T (p.Asp2382Tyr)
c.5269G>T (p.Asp1757Tyr)
6g.129460207A=CA1663188134LAMA2c.6875A= (p.Asp2292=)
c.7139A= (p.Asp2380=)
n.506A=
n.214A=
c.6872A= (p.Asp2291=)
c.7133A= (p.Asp2378=)
c.7145A= (p.Asp2382=)
c.5270A= (p.Asp1757=)
6g.129460207A>CCA365619040LAMA2c.6875A>C (p.Asp2292Ala)
c.7139A>C (p.Asp2380Ala)
n.506A>C
n.214A>C
c.6872A>C (p.Asp2291Ala)
c.7133A>C (p.Asp2378Ala)
c.7145A>C (p.Asp2382Ala)
c.5270A>C (p.Asp1757Ala)
6g.129460207A>GCA365619042LAMA2c.6875A>G (p.Asp2292Gly)
c.7139A>G (p.Asp2380Gly)
n.506A>G
n.214A>G
c.6872A>G (p.Asp2291Gly)
c.7133A>G (p.Asp2378Gly)
c.7145A>G (p.Asp2382Gly)
c.5270A>G (p.Asp1757Gly)
6g.129460207A>TCA3994388LAMA2c.6875A>T (p.Asp2292Val)
c.7139A>T (p.Asp2380Val)
n.506A>T
n.214A>T
c.6872A>T (p.Asp2291Val)
c.7133A>T (p.Asp2378Val)
c.7145A>T (p.Asp2382Val)
c.5270A>T (p.Asp1757Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129460208T>ACA365619043LAMA2c.6876T>A (p.Asp2292Glu)
c.7140T>A (p.Asp2380Glu)
n.507T>A
n.215T>A
c.6873T>A (p.Asp2291Glu)
c.7134T>A (p.Asp2378Glu)
c.7146T>A (p.Asp2382Glu)
c.5271T>A (p.Asp1757Glu)
6g.129460208T>CCA451924875LAMA2c.6876T>C (p.Asp2292=)
c.7140T>C (p.Asp2380=)
n.507T>C
n.215T>C
c.6873T>C (p.Asp2291=)
c.7134T>C (p.Asp2378=)
c.7146T>C (p.Asp2382=)
c.5271T>C (p.Asp1757=)
6g.129460208T>GCA365619044LAMA2c.6876T>G (p.Asp2292Glu)
c.7140T>G (p.Asp2380Glu)
n.507T>G
n.215T>G
c.6873T>G (p.Asp2291Glu)
c.7134T>G (p.Asp2378Glu)
c.7146T>G (p.Asp2382Glu)
c.5271T>G (p.Asp1757Glu)
6g.129460209G>ACA365619046LAMA2c.6877G>A (p.Ala2293Thr)
c.7141G>A (p.Ala2381Thr)
n.508G>A
n.216G>A
c.6874G>A (p.Ala2292Thr)
c.7135G>A (p.Ala2379Thr)
c.7147G>A (p.Ala2383Thr)
c.5272G>A (p.Ala1758Thr)
6g.129460209G>CCA365619047LAMA2c.6877G>C (p.Ala2293Pro)
c.7141G>C (p.Ala2381Pro)
n.508G>C
n.216G>C
c.6874G>C (p.Ala2292Pro)
c.7135G>C (p.Ala2379Pro)
c.7147G>C (p.Ala2383Pro)
c.5272G>C (p.Ala1758Pro)
6g.129460209G>TCA365619048LAMA2c.6877G>T (p.Ala2293Ser)
c.7141G>T (p.Ala2381Ser)
n.508G>T
n.216G>T
c.6874G>T (p.Ala2292Ser)
c.7135G>T (p.Ala2379Ser)
c.7147G>T (p.Ala2383Ser)
c.5272G>T (p.Ala1758Ser)
6g.129460210C>ACA365619049LAMA2c.6878C>A (p.Ala2293Asp)
c.7142C>A (p.Ala2381Asp)
n.509C>A
n.217C>A
c.6875C>A (p.Ala2292Asp)
c.7136C>A (p.Ala2379Asp)
c.7148C>A (p.Ala2383Asp)
c.5273C>A (p.Ala1758Asp)
6g.129460210C>GCA365619050LAMA2c.6878C>G (p.Ala2293Gly)
c.7142C>G (p.Ala2381Gly)
n.509C>G
n.217C>G
c.6875C>G (p.Ala2292Gly)
c.7136C>G (p.Ala2379Gly)
c.7148C>G (p.Ala2383Gly)
c.5273C>G (p.Ala1758Gly)
6g.129460210C>TCA365619051LAMA2c.6878C>T (p.Ala2293Val)
c.7142C>T (p.Ala2381Val)
n.509C>T
n.217C>T
c.6875C>T (p.Ala2292Val)
c.7136C>T (p.Ala2379Val)
c.7148C>T (p.Ala2383Val)
c.5273C>T (p.Ala1758Val)
 COSMIC
6g.129460211T>ACA451924876LAMA2c.6879T>A (p.Ala2293=)
c.7143T>A (p.Ala2381=)
n.510T>A
n.218T>A
c.6876T>A (p.Ala2292=)
c.7137T>A (p.Ala2379=)
c.7149T>A (p.Ala2383=)
c.5274T>A (p.Ala1758=)
6g.129460211T>CCA451924877LAMA2c.6879T>C (p.Ala2293=)
c.7143T>C (p.Ala2381=)
n.510T>C
n.218T>C
c.6876T>C (p.Ala2292=)
c.7137T>C (p.Ala2379=)
c.7149T>C (p.Ala2383=)
c.5274T>C (p.Ala1758=)
6g.129460211T>GCA451924878LAMA2c.6879T>G (p.Ala2293=)
c.7143T>G (p.Ala2381=)
n.510T>G
n.218T>G
c.6876T>G (p.Ala2292=)
c.7137T>G (p.Ala2379=)
c.7149T>G (p.Ala2383=)
c.5274T>G (p.Ala1758=)
6g.129460212G>ACA365619054LAMA2c.6880G>A (p.Val2294Ile)
c.7144G>A (p.Val2382Ile)
n.511G>A
n.219G>A
c.6877G>A (p.Val2293Ile)
c.7138G>A (p.Val2380Ile)
c.7150G>A (p.Val2384Ile)
c.5275G>A (p.Val1759Ile)
 ClinVar
6g.129460212G>CCA365619053LAMA2c.6880G>C (p.Val2294Leu)
c.7144G>C (p.Val2382Leu)
n.511G>C
n.219G>C
c.6877G>C (p.Val2293Leu)
c.7138G>C (p.Val2380Leu)
c.7150G>C (p.Val2384Leu)
c.5275G>C (p.Val1759Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.129460212G=CA1663188140LAMA2c.6880G= (p.Val2294=)
c.7144G= (p.Val2382=)
n.511G=
n.219G=
c.6877G= (p.Val2293=)
c.7138G= (p.Val2380=)
c.7150G= (p.Val2384=)
c.5275G= (p.Val1759=)
6g.129460212G>TCA146888527LAMA2c.6880G>T (p.Val2294Leu)
c.7144G>T (p.Val2382Leu)
n.511G>T
n.219G>T
c.6877G>T (p.Val2293Leu)
c.7138G>T (p.Val2380Leu)
c.7150G>T (p.Val2384Leu)
c.5275G>T (p.Val1759Leu)
 ClinVar dbSNP gnomAD v4 COSMIC
6g.129460213T>ACA365619056LAMA2c.6881T>A (p.Val2294Glu)
c.7145T>A (p.Val2382Glu)
n.512T>A
n.220T>A
c.6878T>A (p.Val2293Glu)
c.7139T>A (p.Val2380Glu)
c.7151T>A (p.Val2384Glu)
c.5276T>A (p.Val1759Glu)
6g.129460213T>CCA365619061LAMA2c.6881T>C (p.Val2294Ala)
c.7145T>C (p.Val2382Ala)
n.512T>C
n.220T>C
c.6878T>C (p.Val2293Ala)
c.7139T>C (p.Val2380Ala)
c.7151T>C (p.Val2384Ala)
c.5276T>C (p.Val1759Ala)
6g.129460213T>GCA365619058LAMA2c.6881T>G (p.Val2294Gly)
c.7145T>G (p.Val2382Gly)
n.512T>G
n.220T>G
c.6878T>G (p.Val2293Gly)
c.7139T>G (p.Val2380Gly)
c.7151T>G (p.Val2384Gly)
c.5276T>G (p.Val1759Gly)
6g.129460214A>CCA451924880LAMA2c.6882A>C (p.Val2294=)
c.7146A>C (p.Val2382=)
n.513A>C
n.221A>C
c.6879A>C (p.Val2293=)
c.7140A>C (p.Val2380=)
c.7152A>C (p.Val2384=)
c.5277A>C (p.Val1759=)
6g.129460214A>GCA451924882LAMA2c.6882A>G (p.Val2294=)
c.7146A>G (p.Val2382=)
n.513A>G
n.221A>G
c.6879A>G (p.Val2293=)
c.7140A>G (p.Val2380=)
c.7152A>G (p.Val2384=)
c.5277A>G (p.Val1759=)
6g.129460214A>TCA451924881LAMA2c.6882A>T (p.Val2294=)
c.7146A>T (p.Val2382=)
n.513A>T
n.221A>T
c.6879A>T (p.Val2293=)
c.7140A>T (p.Val2380=)
c.7152A>T (p.Val2384=)
c.5277A>T (p.Val1759=)
6g.129460215C>ACA365619063LAMA2c.6883C>A (p.Arg2295Ser)
c.7147C>A (p.Arg2383Ser)
n.514C>A
n.222C>A
c.6880C>A (p.Arg2294Ser)
c.7141C>A (p.Arg2381Ser)
c.7153C>A (p.Arg2385Ser)
c.5278C>A (p.Arg1760Ser)
6g.129460215C=CA1663188146LAMA2c.6883C= (p.Arg2295=)
c.7147C= (p.Arg2383=)
n.514C=
n.222C=
c.6880C= (p.Arg2294=)
c.7141C= (p.Arg2381=)
c.7153C= (p.Arg2385=)
c.5278C= (p.Arg1760=)
6g.129460215C>GCA365619067LAMA2c.6883C>G (p.Arg2295Gly)
c.7147C>G (p.Arg2383Gly)
n.514C>G
n.222C>G
c.6880C>G (p.Arg2294Gly)
c.7141C>G (p.Arg2381Gly)
c.7153C>G (p.Arg2385Gly)
c.5278C>G (p.Arg1760Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.129460215C>TCA3994389LAMA2c.6883C>T (p.Arg2295Cys)
c.7147C>T (p.Arg2383Cys)
n.514C>T
n.222C>T
c.6880C>T (p.Arg2294Cys)
c.7141C>T (p.Arg2381Cys)
c.7153C>T (p.Arg2385Cys)
c.5278C>T (p.Arg1760Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129460216G>ACA3994390LAMA2c.6884G>A (p.Arg2295His)
c.7148G>A (p.Arg2383His)
n.515G>A
n.223G>A
c.6881G>A (p.Arg2294His)
c.7142G>A (p.Arg2381His)
c.7154G>A (p.Arg2385His)
c.5279G>A (p.Arg1760His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129460216G>CCA365619071LAMA2c.6884G>C (p.Arg2295Pro)
c.7148G>C (p.Arg2383Pro)
n.515G>C
n.223G>C
c.6881G>C (p.Arg2294Pro)
c.7142G>C (p.Arg2381Pro)
c.7154G>C (p.Arg2385Pro)
c.5279G>C (p.Arg1760Pro)
 dbSNP
6g.129460216G=CA1663188154LAMA2c.6884G= (p.Arg2295=)
c.7148G= (p.Arg2383=)
n.515G=
n.223G=
c.6881G= (p.Arg2294=)
c.7142G= (p.Arg2381=)
c.7154G= (p.Arg2385=)
c.5279G= (p.Arg1760=)
6g.129460216G>TCA365619072LAMA2c.6884G>T (p.Arg2295Leu)
c.7148G>T (p.Arg2383Leu)
n.515G>T
n.223G>T
c.6881G>T (p.Arg2294Leu)
c.7142G>T (p.Arg2381Leu)
c.7154G>T (p.Arg2385Leu)
c.5279G>T (p.Arg1760Leu)
6g.129460217T>ACA451924886LAMA2c.6885T>A (p.Arg2295=)
c.7149T>A (p.Arg2383=)
n.516T>A
n.224T>A
c.6882T>A (p.Arg2294=)
c.7143T>A (p.Arg2381=)
c.7155T>A (p.Arg2385=)
c.5280T>A (p.Arg1760=)
 ClinVar dbSNP gnomAD v4
6g.129460217T>CCA451924887LAMA2c.6885T>C (p.Arg2295=)
c.7149T>C (p.Arg2383=)
n.516T>C
n.224T>C
c.6882T>C (p.Arg2294=)
c.7143T>C (p.Arg2381=)
c.7155T>C (p.Arg2385=)
c.5280T>C (p.Arg1760=)
6g.129460217T>GCA451924888LAMA2c.6885T>G (p.Arg2295=)
c.7149T>G (p.Arg2383=)
n.516T>G
n.224T>G
c.6882T>G (p.Arg2294=)
c.7143T>G (p.Arg2381=)
c.7155T>G (p.Arg2385=)
c.5280T>G (p.Arg1760=)
6g.129460217T=CA1663188157LAMA2c.6885T= (p.Arg2295=)
c.7149T= (p.Arg2383=)
n.516T=
n.224T=
c.6882T= (p.Arg2294=)
c.7143T= (p.Arg2381=)
c.7155T= (p.Arg2385=)
c.5280T= (p.Arg1760=)
6g.129460218G>ACA365619074LAMA2c.6886G>A (p.Val2296Met)
c.7150G>A (p.Val2384Met)
n.517G>A
n.225G>A
c.6883G>A (p.Val2295Met)
c.7144G>A (p.Val2382Met)
c.7156G>A (p.Val2386Met)
c.5281G>A (p.Val1761Met)
 gnomAD v4
6g.129460218G>CCA365619075LAMA2c.6886G>C (p.Val2296Leu)
c.7150G>C (p.Val2384Leu)
n.517G>C
n.225G>C
c.6883G>C (p.Val2295Leu)
c.7144G>C (p.Val2382Leu)
c.7156G>C (p.Val2386Leu)
c.5281G>C (p.Val1761Leu)
 gnomAD v4
6g.129460218G>TCA365619077LAMA2c.6886G>T (p.Val2296Leu)
c.7150G>T (p.Val2384Leu)
n.517G>T
n.225G>T
c.6883G>T (p.Val2295Leu)
c.7144G>T (p.Val2382Leu)
c.7156G>T (p.Val2386Leu)
c.5281G>T (p.Val1761Leu)
6g.129460219T>ACA365619079LAMA2c.6887T>A (p.Val2296Glu)
c.7151T>A (p.Val2384Glu)
n.518T>A
n.226T>A
c.6884T>A (p.Val2295Glu)
c.7145T>A (p.Val2382Glu)
c.7157T>A (p.Val2386Glu)
c.5282T>A (p.Val1761Glu)
6g.129460219T>CCA365619081LAMA2c.6887T>C (p.Val2296Ala)
c.7151T>C (p.Val2384Ala)
n.518T>C
n.226T>C
c.6884T>C (p.Val2295Ala)
c.7145T>C (p.Val2382Ala)
c.7157T>C (p.Val2386Ala)
c.5282T>C (p.Val1761Ala)
6g.129460219T>GCA365619083LAMA2c.6887T>G (p.Val2296Gly)
c.7151T>G (p.Val2384Gly)
n.518T>G
n.226T>G
c.6884T>G (p.Val2295Gly)
c.7145T>G (p.Val2382Gly)
c.7157T>G (p.Val2386Gly)
c.5282T>G (p.Val1761Gly)
6g.129460220G>ACA451924889LAMA2c.6888G>A (p.Val2296=)
c.7152G>A (p.Val2384=)
n.519G>A
n.227G>A
c.6885G>A (p.Val2295=)
c.7146G>A (p.Val2382=)
c.7158G>A (p.Val2386=)
c.5283G>A (p.Val1761=)
 dbSNP gnomAD v3 gnomAD v4
6g.129460220G>CCA451924891LAMA2c.6888G>C (p.Val2296=)
c.7152G>C (p.Val2384=)
n.519G>C
n.227G>C
c.6885G>C (p.Val2295=)
c.7146G>C (p.Val2382=)
c.7158G>C (p.Val2386=)
c.5283G>C (p.Val1761=)
6g.129460220G=CA1663188160LAMA2c.6888G= (p.Val2296=)
c.7152G= (p.Val2384=)
n.519G=
n.227G=
c.6885G= (p.Val2295=)
c.7146G= (p.Val2382=)
c.7158G= (p.Val2386=)
c.5283G= (p.Val1761=)
6g.129460220G>TCA451924890LAMA2c.6888G>T (p.Val2296=)
c.7152G>T (p.Val2384=)
n.519G>T
n.227G>T
c.6885G>T (p.Val2295=)
c.7146G>T (p.Val2382=)
c.7158G>T (p.Val2386=)
c.5283G>T (p.Val1761=)
6g.129460221A>CCA365619089LAMA2c.6889A>C (p.Ile2297Leu)
c.7153A>C (p.Ile2385Leu)
n.520A>C
n.228A>C
c.6886A>C (p.Ile2296Leu)
c.7147A>C (p.Ile2383Leu)
c.7159A>C (p.Ile2387Leu)
c.5284A>C (p.Ile1762Leu)
6g.129460221A>GCA365619086LAMA2c.6889A>G (p.Ile2297Val)
c.7153A>G (p.Ile2385Val)
n.520A>G
n.228A>G
c.6886A>G (p.Ile2296Val)
c.7147A>G (p.Ile2383Val)
c.7159A>G (p.Ile2387Val)
c.5284A>G (p.Ile1762Val)
 gnomAD v4
6g.129460221A>TCA365619087LAMA2c.6889A>T (p.Ile2297Phe)
c.7153A>T (p.Ile2385Phe)
n.520A>T
n.228A>T
c.6886A>T (p.Ile2296Phe)
c.7147A>T (p.Ile2383Phe)
c.7159A>T (p.Ile2387Phe)
c.5284A>T (p.Ile1762Phe)
6g.129460222T>ACA365619091LAMA2c.6890T>A (p.Ile2297Asn)
c.7154T>A (p.Ile2385Asn)
n.521T>A
n.229T>A
c.6887T>A (p.Ile2296Asn)
c.7148T>A (p.Ile2383Asn)
c.7160T>A (p.Ile2387Asn)
c.5285T>A (p.Ile1762Asn)
 gnomAD v4
6g.129460222T>CCA365619093LAMA2c.6890T>C (p.Ile2297Thr)
c.7154T>C (p.Ile2385Thr)
n.521T>C
n.229T>C
c.6887T>C (p.Ile2296Thr)
c.7148T>C (p.Ile2383Thr)
c.7160T>C (p.Ile2387Thr)
c.5285T>C (p.Ile1762Thr)
 ClinVar dbSNP gnomAD v4
6g.129460222T>GCA365619094LAMA2c.6890T>G (p.Ile2297Ser)
c.7154T>G (p.Ile2385Ser)
n.521T>G
n.229T>G
c.6887T>G (p.Ile2296Ser)
c.7148T>G (p.Ile2383Ser)
c.7160T>G (p.Ile2387Ser)
c.5285T>G (p.Ile1762Ser)
6g.129460222T=CA1663188166LAMA2c.6890T= (p.Ile2297=)
c.7154T= (p.Ile2385=)
n.521T=
n.229T=
c.6887T= (p.Ile2296=)
c.7148T= (p.Ile2383=)
c.7160T= (p.Ile2387=)
c.5285T= (p.Ile1762=)
6g.129460223T>ACA451924893LAMA2c.6891T>A (p.Ile2297=)
c.7155T>A (p.Ile2385=)
n.522T>A
n.230T>A
c.6888T>A (p.Ile2296=)
c.7149T>A (p.Ile2383=)
c.7161T>A (p.Ile2387=)
c.5286T>A (p.Ile1762=)
6g.129460223T>CCA451924894LAMA2c.6891T>C (p.Ile2297=)
c.7155T>C (p.Ile2385=)
n.522T>C
n.230T>C
c.6888T>C (p.Ile2296=)
c.7149T>C (p.Ile2383=)
c.7161T>C (p.Ile2387=)
c.5286T>C (p.Ile1762=)
6g.129460223T>GCA365619095LAMA2c.6891T>G (p.Ile2297Met)
c.7155T>G (p.Ile2385Met)
n.522T>G
n.230T>G
c.6888T>G (p.Ile2296Met)
c.7149T>G (p.Ile2383Met)
c.7161T>G (p.Ile2387Met)
c.5286T>G (p.Ile1762Met)
6g.129460224A>CCA365619096LAMA2c.6892A>C (p.Thr2298Pro)
c.7156A>C (p.Thr2386Pro)
n.523A>C
n.231A>C
c.6889A>C (p.Thr2297Pro)
c.7150A>C (p.Thr2384Pro)
c.7162A>C (p.Thr2388Pro)
c.5287A>C (p.Thr1763Pro)
6g.129460224A>GCA365619097LAMA2c.6892A>G (p.Thr2298Ala)
c.7156A>G (p.Thr2386Ala)
n.523A>G
n.231A>G
c.6889A>G (p.Thr2297Ala)
c.7150A>G (p.Thr2384Ala)
c.7162A>G (p.Thr2388Ala)
c.5287A>G (p.Thr1763Ala)
6g.129460224A>TCA365619098LAMA2c.6892A>T (p.Thr2298Ser)
c.7156A>T (p.Thr2386Ser)
n.523A>T
n.231A>T
c.6889A>T (p.Thr2297Ser)
c.7150A>T (p.Thr2384Ser)
c.7162A>T (p.Thr2388Ser)
c.5287A>T (p.Thr1763Ser)
6g.129460225C>ACA365619100LAMA2c.6893C>A (p.Thr2298Lys)
c.7157C>A (p.Thr2386Lys)
n.524C>A
n.232C>A
c.6890C>A (p.Thr2297Lys)
c.7151C>A (p.Thr2384Lys)
c.7163C>A (p.Thr2388Lys)
c.5288C>A (p.Thr1763Lys)
6g.129460225C=CA1663188171LAMA2c.6893C= (p.Thr2298=)
c.7157C= (p.Thr2386=)
n.524C=
n.232C=
c.6890C= (p.Thr2297=)
c.7151C= (p.Thr2384=)
c.7163C= (p.Thr2388=)
c.5288C= (p.Thr1763=)
6g.129460225C>GCA365619102LAMA2c.6893C>G (p.Thr2298Arg)
c.7157C>G (p.Thr2386Arg)
n.524C>G
n.232C>G
c.6890C>G (p.Thr2297Arg)
c.7151C>G (p.Thr2384Arg)
c.7163C>G (p.Thr2388Arg)
c.5288C>G (p.Thr1763Arg)
6g.129460225C>TCA365619103LAMA2c.6893C>T (p.Thr2298Ile)
c.7157C>T (p.Thr2386Ile)
n.524C>T
n.232C>T
c.6890C>T (p.Thr2297Ile)
c.7151C>T (p.Thr2384Ile)
c.7163C>T (p.Thr2388Ile)
c.5288C>T (p.Thr1763Ile)
 dbSNP gnomAD v3 gnomAD v4
6g.129460226A=CA1663188173LAMA2c.6894A= (p.Thr2298=)
c.7158A= (p.Thr2386=)
n.525A=
n.233A=
c.6891A= (p.Thr2297=)
c.7152A= (p.Thr2384=)
c.7164A= (p.Thr2388=)
c.5289A= (p.Thr1763=)
6g.129460226A>CCA451924899LAMA2c.6894A>C (p.Thr2298=)
c.7158A>C (p.Thr2386=)
n.525A>C
n.233A>C
c.6891A>C (p.Thr2297=)
c.7152A>C (p.Thr2384=)
c.7164A>C (p.Thr2388=)
c.5289A>C (p.Thr1763=)
6g.129460226A>GCA146888545LAMA2c.6894A>G (p.Thr2298=)
c.7158A>G (p.Thr2386=)
n.525A>G
n.233A>G
c.6891A>G (p.Thr2297=)
c.7152A>G (p.Thr2384=)
c.7164A>G (p.Thr2388=)
c.5289A>G (p.Thr1763=)
 ClinVar dbSNP gnomAD v4
6g.129460226A>TCA451924900LAMA2c.6894A>T (p.Thr2298=)
c.7158A>T (p.Thr2386=)
n.525A>T
n.233A>T
c.6891A>T (p.Thr2297=)
c.7152A>T (p.Thr2384=)
c.7164A>T (p.Thr2388=)
c.5289A>T (p.Thr1763=)
6g.129460227T>ACA365619108LAMA2c.6895T>A (p.Phe2299Ile)
c.7159T>A (p.Phe2387Ile)
n.526T>A
n.234T>A
c.6892T>A (p.Phe2298Ile)
c.7153T>A (p.Phe2385Ile)
c.7165T>A (p.Phe2389Ile)
c.5290T>A (p.Phe1764Ile)
6g.129460227T>CCA365619107LAMA2c.6895T>C (p.Phe2299Leu)
c.7159T>C (p.Phe2387Leu)
n.526T>C
n.234T>C
c.6892T>C (p.Phe2298Leu)
c.7153T>C (p.Phe2385Leu)
c.7165T>C (p.Phe2389Leu)
c.5290T>C (p.Phe1764Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.129460227T>GCA365619105LAMA2c.6895T>G (p.Phe2299Val)
c.7159T>G (p.Phe2387Val)
n.526T>G
n.234T>G
c.6892T>G (p.Phe2298Val)
c.7153T>G (p.Phe2385Val)
c.7165T>G (p.Phe2389Val)
c.5290T>G (p.Phe1764Val)
6g.129460227T=CA1663188175LAMA2c.6895T= (p.Phe2299=)
c.7159T= (p.Phe2387=)
n.526T=
n.234T=
c.6892T= (p.Phe2298=)
c.7153T= (p.Phe2385=)
c.7165T= (p.Phe2389=)
c.5290T= (p.Phe1764=)
6g.129460228T>ACA365619109LAMA2c.6896T>A (p.Phe2299Tyr)
c.7160T>A (p.Phe2387Tyr)
n.527T>A
n.235T>A
c.6893T>A (p.Phe2298Tyr)
c.7154T>A (p.Phe2385Tyr)
c.7166T>A (p.Phe2389Tyr)
c.5291T>A (p.Phe1764Tyr)
6g.129460228T>CCA365619110LAMA2c.6896T>C (p.Phe2299Ser)
c.7160T>C (p.Phe2387Ser)
n.527T>C
n.235T>C
c.6893T>C (p.Phe2298Ser)
c.7154T>C (p.Phe2385Ser)
c.7166T>C (p.Phe2389Ser)
c.5291T>C (p.Phe1764Ser)
6g.129460228T>GCA365619112LAMA2c.6896T>G (p.Phe2299Cys)
c.7160T>G (p.Phe2387Cys)
n.527T>G
n.235T>G
c.6893T>G (p.Phe2298Cys)
c.7154T>G (p.Phe2385Cys)
c.7166T>G (p.Phe2389Cys)
c.5291T>G (p.Phe1764Cys)
6g.129460229C>ACA365619114LAMA2c.6897C>A (p.Phe2299Leu)
c.7161C>A (p.Phe2387Leu)
n.528C>A
n.236C>A
c.6894C>A (p.Phe2298Leu)
c.7155C>A (p.Phe2385Leu)
c.7167C>A (p.Phe2389Leu)
c.5292C>A (p.Phe1764Leu)
6g.129460229C>GCA365619115LAMA2c.6897C>G (p.Phe2299Leu)
c.7161C>G (p.Phe2387Leu)
n.528C>G
n.236C>G
c.6894C>G (p.Phe2298Leu)
c.7155C>G (p.Phe2385Leu)
c.7167C>G (p.Phe2389Leu)
c.5292C>G (p.Phe1764Leu)
6g.129460229C>TCA451924902LAMA2c.6897C>T (p.Phe2299=)
c.7161C>T (p.Phe2387=)
n.528C>T
n.236C>T
c.6894C>T (p.Phe2298=)
c.7155C>T (p.Phe2385=)
c.7167C>T (p.Phe2389=)
c.5292C>T (p.Phe1764=)
6g.129460230A=CA1663188181LAMA2c.6898A= (p.Thr2300=)
c.7162A= (p.Thr2388=)
n.529A=
n.237A=
c.6895A= (p.Thr2299=)
c.7156A= (p.Thr2386=)
c.7168A= (p.Thr2390=)
c.5293A= (p.Thr1765=)
6g.129460230A>CCA365619119LAMA2c.6898A>C (p.Thr2300Pro)
c.7162A>C (p.Thr2388Pro)
n.529A>C
n.237A>C
c.6895A>C (p.Thr2299Pro)
c.7156A>C (p.Thr2386Pro)
c.7168A>C (p.Thr2390Pro)
c.5293A>C (p.Thr1765Pro)
6g.129460230A>GCA3994391LAMA2c.6898A>G (p.Thr2300Ala)
c.7162A>G (p.Thr2388Ala)
n.529A>G
n.237A>G
c.6895A>G (p.Thr2299Ala)
c.7156A>G (p.Thr2386Ala)
c.7168A>G (p.Thr2390Ala)
c.5293A>G (p.Thr1765Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129460230A>TCA365619117LAMA2c.6898A>T (p.Thr2300Ser)
c.7162A>T (p.Thr2388Ser)
n.529A>T
n.237A>T
c.6895A>T (p.Thr2299Ser)
c.7156A>T (p.Thr2386Ser)
c.7168A>T (p.Thr2390Ser)
c.5293A>T (p.Thr1765Ser)
6g.129460231C>ACA365619120LAMA2c.6899C>A (p.Thr2300Asn)
c.7163C>A (p.Thr2388Asn)
n.530C>A
n.238C>A
c.6896C>A (p.Thr2299Asn)
c.7157C>A (p.Thr2386Asn)
c.7169C>A (p.Thr2390Asn)
c.5294C>A (p.Thr1765Asn)
6g.129460231C>GCA365619122LAMA2c.6899C>G (p.Thr2300Ser)
c.7163C>G (p.Thr2388Ser)
n.530C>G
n.238C>G
c.6896C>G (p.Thr2299Ser)
c.7157C>G (p.Thr2386Ser)
c.7169C>G (p.Thr2390Ser)
c.5294C>G (p.Thr1765Ser)
6g.129460231C>TCA365619123LAMA2c.6899C>T (p.Thr2300Ile)
c.7163C>T (p.Thr2388Ile)
n.530C>T
n.238C>T
c.6896C>T (p.Thr2299Ile)
c.7157C>T (p.Thr2386Ile)
c.7169C>T (p.Thr2390Ile)
c.5294C>T (p.Thr1765Ile)
6g.129460232T>ACA451924903LAMA2c.6900T>A (p.Thr2300=)
c.7164T>A (p.Thr2388=)
n.531T>A
n.239T>A
c.6897T>A (p.Thr2299=)
c.7158T>A (p.Thr2386=)
c.7170T>A (p.Thr2390=)
c.5295T>A (p.Thr1765=)
6g.129460232T>CCA451924904LAMA2c.6900T>C (p.Thr2300=)
c.7164T>C (p.Thr2388=)
n.531T>C
n.239T>C
c.6897T>C (p.Thr2299=)
c.7158T>C (p.Thr2386=)
c.7170T>C (p.Thr2390=)
c.5295T>C (p.Thr1765=)
 ClinVar dbSNP
6g.129460232T>GCA451924905LAMA2c.6900T>G (p.Thr2300=)
c.7164T>G (p.Thr2388=)
n.531T>G
n.239T>G
c.6897T>G (p.Thr2299=)
c.7158T>G (p.Thr2386=)
c.7170T>G (p.Thr2390=)
c.5295T>G (p.Thr1765=)
6g.129460233G>ACA365619125LAMA2c.6901G>A (p.Gly2301Ser)
c.7165G>A (p.Gly2389Ser)
n.532G>A
n.240G>A
c.6898G>A (p.Gly2300Ser)
c.7159G>A (p.Gly2387Ser)
c.7171G>A (p.Gly2391Ser)
c.5296G>A (p.Gly1766Ser)
 gnomAD v4
6g.129460233G>CCA365619127LAMA2c.6901G>C (p.Gly2301Arg)
c.7165G>C (p.Gly2389Arg)
n.532G>C
n.240G>C
c.6898G>C (p.Gly2300Arg)
c.7159G>C (p.Gly2387Arg)
c.7171G>C (p.Gly2391Arg)
c.5296G>C (p.Gly1766Arg)
6g.129460233G>TCA365619129LAMA2c.6901G>T (p.Gly2301Cys)
c.7165G>T (p.Gly2389Cys)
n.532G>T
n.240G>T
c.6898G>T (p.Gly2300Cys)
c.7159G>T (p.Gly2387Cys)
c.7171G>T (p.Gly2391Cys)
c.5296G>T (p.Gly1766Cys)
6g.129460234G>ACA365619131LAMA2c.6902G>A (p.Gly2301Asp)
c.7166G>A (p.Gly2389Asp)
n.533G>A
n.241G>A
c.6899G>A (p.Gly2300Asp)
c.7160G>A (p.Gly2387Asp)
c.7172G>A (p.Gly2391Asp)
c.5297G>A (p.Gly1766Asp)
6g.129460234G>CCA365619133LAMA2c.6902G>C (p.Gly2301Ala)
c.7166G>C (p.Gly2389Ala)
n.533G>C
n.241G>C
c.6899G>C (p.Gly2300Ala)
c.7160G>C (p.Gly2387Ala)
c.7172G>C (p.Gly2391Ala)
c.5297G>C (p.Gly1766Ala)
6g.129460234G>TCA365619132LAMA2c.6902G>T (p.Gly2301Val)
c.7166G>T (p.Gly2389Val)
n.533G>T
n.241G>T
c.6899G>T (p.Gly2300Val)
c.7160G>T (p.Gly2387Val)
c.7172G>T (p.Gly2391Val)
c.5297G>T (p.Gly1766Val)
6g.129460235C>ACA451924907LAMA2c.6903C>A (p.Gly2301=)
c.7167C>A (p.Gly2389=)
n.534C>A
n.242C>A
c.6900C>A (p.Gly2300=)
c.7161C>A (p.Gly2387=)
c.7173C>A (p.Gly2391=)
c.5298C>A (p.Gly1766=)
6g.129460235C>GCA451924909LAMA2c.6903C>G (p.Gly2301=)
c.7167C>G (p.Gly2389=)
n.534C>G
n.242C>G
c.6900C>G (p.Gly2300=)
c.7161C>G (p.Gly2387=)
c.7173C>G (p.Gly2391=)
c.5298C>G (p.Gly1766=)
 gnomAD v4
6g.129460235C>TCA451924908LAMA2c.6903C>T (p.Gly2301=)
c.7167C>T (p.Gly2389=)
n.534C>T
n.242C>T
c.6900C>T (p.Gly2300=)
c.7161C>T (p.Gly2387=)
c.7173C>T (p.Gly2391=)
c.5298C>T (p.Gly1766=)
6g.129460236T>ACA365619134LAMA2c.6904T>A (p.Cys2302Ser)
c.7168T>A (p.Cys2390Ser)
n.535T>A
n.243T>A
c.6901T>A (p.Cys2301Ser)
c.7162T>A (p.Cys2388Ser)
c.7174T>A (p.Cys2392Ser)
c.5299T>A (p.Cys1767Ser)
6g.129460236T>CCA365619138LAMA2c.6904T>C (p.Cys2302Arg)
c.7168T>C (p.Cys2390Arg)
n.535T>C
n.243T>C
c.6901T>C (p.Cys2301Arg)
c.7162T>C (p.Cys2388Arg)
c.7174T>C (p.Cys2392Arg)
c.5299T>C (p.Cys1767Arg)
6g.129460236T>GCA365619139LAMA2c.6904T>G (p.Cys2302Gly)
c.7168T>G (p.Cys2390Gly)
n.535T>G
n.243T>G
c.6901T>G (p.Cys2301Gly)
c.7162T>G (p.Cys2388Gly)
c.7174T>G (p.Cys2392Gly)
c.5299T>G (p.Cys1767Gly)
6g.129460237G>ACA365619141LAMA2c.6905G>A (p.Cys2302Tyr)
c.7169G>A (p.Cys2390Tyr)
n.536G>A
n.244G>A
c.6902G>A (p.Cys2301Tyr)
c.7163G>A (p.Cys2388Tyr)
c.7175G>A (p.Cys2392Tyr)
c.5300G>A (p.Cys1767Tyr)
 dbSNP
6g.129460237G>CCA365619143LAMA2c.6905G>C (p.Cys2302Ser)
c.7169G>C (p.Cys2390Ser)
n.536G>C
n.244G>C
c.6902G>C (p.Cys2301Ser)
c.7163G>C (p.Cys2388Ser)
c.7175G>C (p.Cys2392Ser)
c.5300G>C (p.Cys1767Ser)
 dbSNP
6g.129460237G=CA1663188339LAMA2c.6905G= (p.Cys2302=)
c.7169G= (p.Cys2390=)
n.536G=
n.244G=
c.6902G= (p.Cys2301=)
c.7163G= (p.Cys2388=)
c.7175G= (p.Cys2392=)
c.5300G= (p.Cys1767=)
6g.129460237G>TCA365619147LAMA2c.6905G>T (p.Cys2302Phe)
c.7169G>T (p.Cys2390Phe)
n.536G>T
n.244G>T
c.6902G>T (p.Cys2301Phe)
c.7163G>T (p.Cys2388Phe)
c.7175G>T (p.Cys2392Phe)
c.5300G>T (p.Cys1767Phe)
6g.129460238C>ACA365619149LAMA2c.6906C>A (p.Cys2302Ter)
c.7170C>A (p.Cys2390Ter)
n.537C>A
n.245C>A
c.6903C>A (p.Cys2301Ter)
c.7164C>A (p.Cys2388Ter)
c.7176C>A (p.Cys2392Ter)
c.5301C>A (p.Cys1767Ter)
6g.129460238C>GCA365619152LAMA2c.6906C>G (p.Cys2302Trp)
c.7170C>G (p.Cys2390Trp)
n.537C>G
n.245C>G
c.6903C>G (p.Cys2301Trp)
c.7164C>G (p.Cys2388Trp)
c.7176C>G (p.Cys2392Trp)
c.5301C>G (p.Cys1767Trp)
6g.129460238C>TCA451924911LAMA2c.6906C>T (p.Cys2302=)
c.7170C>T (p.Cys2390=)
n.537C>T
n.245C>T
c.6903C>T (p.Cys2301=)
c.7164C>T (p.Cys2388=)
c.7176C>T (p.Cys2392=)
c.5301C>T (p.Cys1767=)
6g.129460239A=CA1663188343LAMA2c.6907A= (p.Met2303=)
c.7171A= (p.Met2391=)
n.538A=
n.246A=
c.6904A= (p.Met2302=)
c.7165A= (p.Met2389=)
c.7177A= (p.Met2393=)
c.5302A= (p.Met1768=)
6g.129460239A>CCA365619153LAMA2c.6907A>C (p.Met2303Leu)
c.7171A>C (p.Met2391Leu)
n.538A>C
n.246A>C
c.6904A>C (p.Met2302Leu)
c.7165A>C (p.Met2389Leu)
c.7177A>C (p.Met2393Leu)
c.5302A>C (p.Met1768Leu)
6g.129460239A>GCA365619154LAMA2c.6907A>G (p.Met2303Val)
c.7171A>G (p.Met2391Val)
n.538A>G
n.246A>G
c.6904A>G (p.Met2302Val)
c.7165A>G (p.Met2389Val)
c.7177A>G (p.Met2393Val)
c.5302A>G (p.Met1768Val)
 dbSNP gnomAD v2 gnomAD v4
6g.129460239A>TCA365619155LAMA2c.6907A>T (p.Met2303Leu)
c.7171A>T (p.Met2391Leu)
n.538A>T
n.246A>T
c.6904A>T (p.Met2302Leu)
c.7165A>T (p.Met2389Leu)
c.7177A>T (p.Met2393Leu)
c.5302A>T (p.Met1768Leu)
6g.129460240T>ACA365619156LAMA2c.6908T>A (p.Met2303Lys)
c.7172T>A (p.Met2391Lys)
n.539T>A
n.247T>A
c.6905T>A (p.Met2302Lys)
c.7166T>A (p.Met2389Lys)
c.7178T>A (p.Met2393Lys)
c.5303T>A (p.Met1768Lys)
6g.129460240T>CCA3994392LAMA2c.6908T>C (p.Met2303Thr)
c.7172T>C (p.Met2391Thr)
n.539T>C
n.247T>C
c.6905T>C (p.Met2302Thr)
c.7166T>C (p.Met2389Thr)
c.7178T>C (p.Met2393Thr)
c.5303T>C (p.Met1768Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129460240T>GCA365619157LAMA2c.6908T>G (p.Met2303Arg)
c.7172T>G (p.Met2391Arg)
n.539T>G
n.247T>G
c.6905T>G (p.Met2302Arg)
c.7166T>G (p.Met2389Arg)
c.7178T>G (p.Met2393Arg)
c.5303T>G (p.Met1768Arg)
6g.129460240T=CA1663188347LAMA2c.6908T= (p.Met2303=)
c.7172T= (p.Met2391=)
n.539T=
n.247T=
c.6905T= (p.Met2302=)
c.7166T= (p.Met2389=)
c.7178T= (p.Met2393=)
c.5303T= (p.Met1768=)
6g.129460241G>ACA365619161LAMA2c.6909G>A (p.Met2303Ile)
c.7173G>A (p.Met2391Ile)
n.540G>A
n.248G>A
c.6906G>A (p.Met2302Ile)
c.7167G>A (p.Met2389Ile)
c.7179G>A (p.Met2393Ile)
c.5304G>A (p.Met1768Ile)
 ClinVar dbSNP gnomAD v4
6g.129460241G>CCA365619163LAMA2c.6909G>C (p.Met2303Ile)
c.7173G>C (p.Met2391Ile)
n.540G>C
n.248G>C
c.6906G>C (p.Met2302Ile)
c.7167G>C (p.Met2389Ile)
c.7179G>C (p.Met2393Ile)
c.5304G>C (p.Met1768Ile)
6g.129460241G>TCA365619162LAMA2c.6909G>T (p.Met2303Ile)
c.7173G>T (p.Met2391Ile)
n.540G>T
n.248G>T
c.6906G>T (p.Met2302Ile)
c.7167G>T (p.Met2389Ile)
c.7179G>T (p.Met2393Ile)
c.5304G>T (p.Met1768Ile)
6g.129460242G>ACA365619165LAMA2c.6910G>A (p.Gly2304Arg)
c.7174G>A (p.Gly2392Arg)
n.541G>A
n.249G>A
c.6907G>A (p.Gly2303Arg)
c.7168G>A (p.Gly2390Arg)
c.7180G>A (p.Gly2394Arg)
c.5305G>A (p.Gly1769Arg)
6g.129460242G>CCA365619168LAMA2c.6910G>C (p.Gly2304Arg)
c.7174G>C (p.Gly2392Arg)
n.541G>C
n.249G>C
c.6907G>C (p.Gly2303Arg)
c.7168G>C (p.Gly2390Arg)
c.7180G>C (p.Gly2394Arg)
c.5305G>C (p.Gly1769Arg)
6g.129460242G>TCA365619167LAMA2c.6910G>T (p.Gly2304Ter)
c.7174G>T (p.Gly2392Ter)
n.541G>T
n.249G>T
c.6907G>T (p.Gly2303Ter)
c.7168G>T (p.Gly2390Ter)
c.7180G>T (p.Gly2394Ter)
c.5305G>T (p.Gly1769Ter)
 gnomAD v4
6g.129460243G>ACA365619170LAMA2c.6911G>A (p.Gly2304Glu)
c.7175G>A (p.Gly2392Glu)
n.542G>A
n.250G>A
c.6908G>A (p.Gly2303Glu)
c.7169G>A (p.Gly2390Glu)
c.7181G>A (p.Gly2394Glu)
c.5306G>A (p.Gly1769Glu)
 gnomAD v4
6g.129460243G>CCA365619171LAMA2c.6911G>C (p.Gly2304Ala)
c.7175G>C (p.Gly2392Ala)
n.542G>C
n.250G>C
c.6908G>C (p.Gly2303Ala)
c.7169G>C (p.Gly2390Ala)
c.7181G>C (p.Gly2394Ala)
c.5306G>C (p.Gly1769Ala)
6g.129460243G>TCA365619173LAMA2c.6911G>T (p.Gly2304Val)
c.7175G>T (p.Gly2392Val)
n.542G>T
n.250G>T
c.6908G>T (p.Gly2303Val)
c.7169G>T (p.Gly2390Val)
c.7181G>T (p.Gly2394Val)
c.5306G>T (p.Gly1769Val)
6g.129460244A>CCA451924917LAMA2c.6912A>C (p.Gly2304=)
c.7176A>C (p.Gly2392=)
n.543A>C
n.251A>C
c.6909A>C (p.Gly2303=)
c.7170A>C (p.Gly2390=)
c.7182A>C (p.Gly2394=)
c.5307A>C (p.Gly1769=)
6g.129460244A>GCA451924918LAMA2c.6912A>G (p.Gly2304=)
c.7176A>G (p.Gly2392=)
n.543A>G
n.251A>G
c.6909A>G (p.Gly2303=)
c.7170A>G (p.Gly2390=)
c.7182A>G (p.Gly2394=)
c.5307A>G (p.Gly1769=)
 ClinVar dbSNP
6g.129460244A>TCA451924916LAMA2c.6912A>T (p.Gly2304=)
c.7176A>T (p.Gly2392=)
n.543A>T
n.251A>T
c.6909A>T (p.Gly2303=)
c.7170A>T (p.Gly2390=)
c.7182A>T (p.Gly2394=)
c.5307A>T (p.Gly1769=)
6g.129460245G>ACA365619174LAMA2c.6913G>A (p.Glu2305Lys)
c.7177G>A (p.Glu2393Lys)
n.544G>A
n.252G>A
c.6910G>A (p.Glu2304Lys)
c.7171G>A (p.Glu2391Lys)
c.7183G>A (p.Glu2395Lys)
c.5308G>A (p.Glu1770Lys)
6g.129460245G>CCA365619175LAMA2c.6913G>C (p.Glu2305Gln)
c.7177G>C (p.Glu2393Gln)
n.544G>C
n.252G>C
c.6910G>C (p.Glu2304Gln)
c.7171G>C (p.Glu2391Gln)
c.7183G>C (p.Glu2395Gln)
c.5308G>C (p.Glu1770Gln)
 COSMIC
6g.129460245G>TCA365619176LAMA2c.6913G>T (p.Glu2305Ter)
c.7177G>T (p.Glu2393Ter)
n.544G>T
n.252G>T
c.6910G>T (p.Glu2304Ter)
c.7171G>T (p.Glu2391Ter)
c.7183G>T (p.Glu2395Ter)
c.5308G>T (p.Glu1770Ter)
6g.129460246A>CCA365619184LAMA2c.6914A>C (p.Glu2305Ala)
c.7178A>C (p.Glu2393Ala)
n.545A>C
n.253A>C
c.6911A>C (p.Glu2304Ala)
c.7172A>C (p.Glu2391Ala)
c.7184A>C (p.Glu2395Ala)
c.5309A>C (p.Glu1770Ala)
6g.129460246A>GCA365619180LAMA2c.6914A>G (p.Glu2305Gly)
c.7178A>G (p.Glu2393Gly)
n.545A>G
n.253A>G
c.6911A>G (p.Glu2304Gly)
c.7172A>G (p.Glu2391Gly)
c.7184A>G (p.Glu2395Gly)
c.5309A>G (p.Glu1770Gly)
6g.129460246A>TCA365619182LAMA2c.6914A>T (p.Glu2305Val)
c.7178A>T (p.Glu2393Val)
n.545A>T
n.253A>T
c.6911A>T (p.Glu2304Val)
c.7172A>T (p.Glu2391Val)
c.7184A>T (p.Glu2395Val)
c.5309A>T (p.Glu1770Val)
6g.129460247A=CA1663188350LAMA2c.6915A= (p.Glu2305=)
c.7179A= (p.Glu2393=)
n.546A=
n.254A=
c.6912A= (p.Glu2304=)
c.7173A= (p.Glu2391=)
c.7185A= (p.Glu2395=)
c.5310A= (p.Glu1770=)
6g.129460247A>CCA365619185LAMA2c.6915A>C (p.Glu2305Asp)
c.7179A>C (p.Glu2393Asp)
n.546A>C
n.254A>C
c.6912A>C (p.Glu2304Asp)
c.7173A>C (p.Glu2391Asp)
c.7185A>C (p.Glu2395Asp)
c.5310A>C (p.Glu1770Asp)
6g.129460247A>GCA451924922LAMA2c.6915A>G (p.Glu2305=)
c.7179A>G (p.Glu2393=)
n.546A>G
n.254A>G
c.6912A>G (p.Glu2304=)
c.7173A>G (p.Glu2391=)
c.7185A>G (p.Glu2395=)
c.5310A>G (p.Glu1770=)
6g.129460247A>TCA365619186LAMA2c.6915A>T (p.Glu2305Asp)
c.7179A>T (p.Glu2393Asp)
n.546A>T
n.254A>T
c.6912A>T (p.Glu2304Asp)
c.7173A>T (p.Glu2391Asp)
c.7185A>T (p.Glu2395Asp)
c.5310A>T (p.Glu1770Asp)
 dbSNP gnomAD v2
6g.129460248A=CA1663188352LAMA2c.6916A= (p.Thr2306=)
c.7180A= (p.Thr2394=)
n.547A=
n.255A=
c.6913A= (p.Thr2305=)
c.7174A= (p.Thr2392=)
c.7186A= (p.Thr2396=)
c.5311A= (p.Thr1771=)
6g.129460248A>CCA365619187LAMA2c.6916A>C (p.Thr2306Pro)
c.7180A>C (p.Thr2394Pro)
n.547A>C
n.255A>C
c.6913A>C (p.Thr2305Pro)
c.7174A>C (p.Thr2392Pro)
c.7186A>C (p.Thr2396Pro)
c.5311A>C (p.Thr1771Pro)
6g.129460248A>GCA365619188LAMA2c.6916A>G (p.Thr2306Ala)
c.7180A>G (p.Thr2394Ala)
n.547A>G
n.255A>G
c.6913A>G (p.Thr2305Ala)
c.7174A>G (p.Thr2392Ala)
c.7186A>G (p.Thr2396Ala)
c.5311A>G (p.Thr1771Ala)
6g.129460248A>TCA3994393LAMA2c.6916A>T (p.Thr2306Ser)
c.7180A>T (p.Thr2394Ser)
n.547A>T
n.255A>T
c.6913A>T (p.Thr2305Ser)
c.7174A>T (p.Thr2392Ser)
c.7186A>T (p.Thr2396Ser)
c.5311A>T (p.Thr1771Ser)
 dbSNP ExAC gnomAD v2
6g.129460249C>ACA365619194LAMA2c.6917C>A (p.Thr2306Lys)
c.7181C>A (p.Thr2394Lys)
n.548C>A
n.256C>A
c.6914C>A (p.Thr2305Lys)
c.7175C>A (p.Thr2392Lys)
c.7187C>A (p.Thr2396Lys)
c.5312C>A (p.Thr1771Lys)
6g.129460249C>GCA365619196LAMA2c.6917C>G (p.Thr2306Arg)
c.7181C>G (p.Thr2394Arg)
n.548C>G
n.256C>G
c.6914C>G (p.Thr2305Arg)
c.7175C>G (p.Thr2392Arg)
c.7187C>G (p.Thr2396Arg)
c.5312C>G (p.Thr1771Arg)
6g.129460249C>TCA365619195LAMA2c.6917C>T (p.Thr2306Ile)
c.7181C>T (p.Thr2394Ile)
n.548C>T
n.256C>T
c.6914C>T (p.Thr2305Ile)
c.7175C>T (p.Thr2392Ile)
c.7187C>T (p.Thr2396Ile)
c.5312C>T (p.Thr1771Ile)
6g.129460249_129460251delCA913109498LAMA2c.6917_6919del (p.Thr2306_Tyr2307delinsAsn)
c.7181_7183del (p.Thr2394_Tyr2395delinsAsn)
n.548_550del
n.256_258del
c.6914_6916del (p.Thr2305_Tyr2306delinsAsn)
c.7175_7177del (p.Thr2392_Tyr2393delinsAsn)
c.7187_7189del (p.Thr2396_Tyr2397delinsAsn)
c.5312_5314del (p.Thr1771_Tyr1772delinsAsn)
6g.129460249_129460251delinsCATCA1663188358LAMA2c.6917_6919delinsCAT (p.Thr2306=)
c.7181_7183delinsCAT (p.Thr2394=)
n.548_550delinsCAT
n.256_258delinsCAT
c.6914_6916delinsCAT (p.Thr2305=)
c.7175_7177delinsCAT (p.Thr2392=)
c.7187_7189delinsCAT (p.Thr2396=)
c.5312_5314delinsCAT (p.Thr1771=)
6g.129460250A=CA1663188363LAMA2c.6918A= (p.Thr2306=)
c.7182A= (p.Thr2394=)
n.549A=
n.257A=
c.6915A= (p.Thr2305=)
c.7176A= (p.Thr2392=)
c.7188A= (p.Thr2396=)
c.5313A= (p.Thr1771=)
6g.129460250A>CCA451924924LAMA2c.6918A>C (p.Thr2306=)
c.7182A>C (p.Thr2394=)
n.549A>C
n.257A>C
c.6915A>C (p.Thr2305=)
c.7176A>C (p.Thr2392=)
c.7188A>C (p.Thr2396=)
c.5313A>C (p.Thr1771=)
6g.129460250A>GCA3994395LAMA2c.6918A>G (p.Thr2306=)
c.7182A>G (p.Thr2394=)
n.549A>G
n.257A>G
c.6915A>G (p.Thr2305=)
c.7176A>G (p.Thr2392=)
c.7188A>G (p.Thr2396=)
c.5313A>G (p.Thr1771=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129460250A>TCA451924925LAMA2c.6918A>T (p.Thr2306=)
c.7182A>T (p.Thr2394=)
n.549A>T
n.257A>T
c.6915A>T (p.Thr2305=)
c.7176A>T (p.Thr2392=)
c.7188A>T (p.Thr2396=)
c.5313A>T (p.Thr1771=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129460251_129460252delCA3994394LAMA2c.6919_6920del (p.Tyr2307LeufsTer2)
c.7183_7184del (p.Tyr2395LeufsTer2)
n.550_551del
n.258_259del
c.6916_6917del (p.Tyr2306LeufsTer2)
c.7177_7178del (p.Tyr2393LeufsTer2)
c.7189_7190del (p.Tyr2397LeufsTer2)
c.5314_5315del (p.Tyr1772LeufsTer2)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129460251T>ACA365619197LAMA2c.6919T>A (p.Tyr2307Asn)
c.7183T>A (p.Tyr2395Asn)
n.550T>A
n.258T>A
c.6916T>A (p.Tyr2306Asn)
c.7177T>A (p.Tyr2393Asn)
c.7189T>A (p.Tyr2397Asn)
c.5314T>A (p.Tyr1772Asn)
6g.129460251T>CCA365619199LAMA2c.6919T>C (p.Tyr2307His)
c.7183T>C (p.Tyr2395His)
n.550T>C
n.258T>C
c.6916T>C (p.Tyr2306His)
c.7177T>C (p.Tyr2393His)
c.7189T>C (p.Tyr2397His)
c.5314T>C (p.Tyr1772His)
 dbSNP gnomAD v4
6g.129460251T>GCA365619200LAMA2c.6919T>G (p.Tyr2307Asp)
c.7183T>G (p.Tyr2395Asp)
n.550T>G
n.258T>G
c.6916T>G (p.Tyr2306Asp)
c.7177T>G (p.Tyr2393Asp)
c.7189T>G (p.Tyr2397Asp)
c.5314T>G (p.Tyr1772Asp)
6g.129460252A>CCA365619201LAMA2c.6920A>C (p.Tyr2307Ser)
c.7184A>C (p.Tyr2395Ser)
n.551A>C
n.259A>C
c.6917A>C (p.Tyr2306Ser)
c.7178A>C (p.Tyr2393Ser)
c.7190A>C (p.Tyr2397Ser)
c.5315A>C (p.Tyr1772Ser)
6g.129460252A>GCA365619202LAMA2c.6920A>G (p.Tyr2307Cys)
c.7184A>G (p.Tyr2395Cys)
n.551A>G
n.259A>G
c.6917A>G (p.Tyr2306Cys)
c.7178A>G (p.Tyr2393Cys)
c.7190A>G (p.Tyr2397Cys)
c.5315A>G (p.Tyr1772Cys)
6g.129460252A>TCA365619203LAMA2c.6920A>T (p.Tyr2307Phe)
c.7184A>T (p.Tyr2395Phe)
n.551A>T
n.259A>T
c.6917A>T (p.Tyr2306Phe)
c.7178A>T (p.Tyr2393Phe)
c.7190A>T (p.Tyr2397Phe)
c.5315A>T (p.Tyr1772Phe)
6g.129460253C>ACA365619204LAMA2c.6921C>A (p.Tyr2307Ter)
c.7185C>A (p.Tyr2395Ter)
n.552C>A
n.260C>A
c.6918C>A (p.Tyr2306Ter)
c.7179C>A (p.Tyr2393Ter)
c.7191C>A (p.Tyr2397Ter)
c.5316C>A (p.Tyr1772Ter)
 dbSNP gnomAD v3 gnomAD v4
6g.129460253C=CA1663188367LAMA2c.6921C= (p.Tyr2307=)
c.7185C= (p.Tyr2395=)
n.552C=
n.260C=
c.6918C= (p.Tyr2306=)
c.7179C= (p.Tyr2393=)
c.7191C= (p.Tyr2397=)
c.5316C= (p.Tyr1772=)
6g.129460253C>GCA365619205LAMA2c.6921C>G (p.Tyr2307Ter)
c.7185C>G (p.Tyr2395Ter)
n.552C>G
n.260C>G
c.6918C>G (p.Tyr2306Ter)
c.7179C>G (p.Tyr2393Ter)
c.7191C>G (p.Tyr2397Ter)
c.5316C>G (p.Tyr1772Ter)
6g.129460253C>TCA3994396LAMA2c.6921C>T (p.Tyr2307=)
c.7185C>T (p.Tyr2395=)
n.552C>T
n.260C>T
c.6918C>T (p.Tyr2306=)
c.7179C>T (p.Tyr2393=)
c.7191C>T (p.Tyr2397=)
c.5316C>T (p.Tyr1772=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129460254T>ACA365619210LAMA2c.6922T>A (p.Phe2308Ile)
c.7186T>A (p.Phe2396Ile)
n.553T>A
n.261T>A
c.6919T>A (p.Phe2307Ile)
c.7180T>A (p.Phe2394Ile)
c.7192T>A (p.Phe2398Ile)
c.5317T>A (p.Phe1773Ile)
6g.129460254T>CCA365619212LAMA2c.6922T>C (p.Phe2308Leu)
c.7186T>C (p.Phe2396Leu)
n.553T>C
n.261T>C
c.6919T>C (p.Phe2307Leu)
c.7180T>C (p.Phe2394Leu)
c.7192T>C (p.Phe2398Leu)
c.5317T>C (p.Phe1773Leu)
6g.129460254T>GCA365619211LAMA2c.6922T>G (p.Phe2308Val)
c.7186T>G (p.Phe2396Val)
n.553T>G
n.261T>G
c.6919T>G (p.Phe2307Val)
c.7180T>G (p.Phe2394Val)
c.7192T>G (p.Phe2398Val)
c.5317T>G (p.Phe1773Val)
6g.129460256dupCA2580074969LAMA2c.6924dup (p.Asp2309Ter)
c.7188dup (p.Asp2397Ter)
n.555dup
n.263dup
c.6921dup (p.Asp2308Ter)
c.7182dup (p.Asp2395Ter)
c.7194dup (p.Asp2399Ter)
c.5319dup (p.Asp1774Ter)
 ClinVar
6g.129460255T>ACA365619214LAMA2c.6923T>A (p.Phe2308Tyr)
c.7187T>A (p.Phe2396Tyr)
n.554T>A
n.262T>A
c.6920T>A (p.Phe2307Tyr)
c.7181T>A (p.Phe2394Tyr)
c.7193T>A (p.Phe2398Tyr)
c.5318T>A (p.Phe1773Tyr)
6g.129460255T>CCA365619216LAMA2c.6923T>C (p.Phe2308Ser)
c.7187T>C (p.Phe2396Ser)
n.554T>C
n.262T>C
c.6920T>C (p.Phe2307Ser)
c.7181T>C (p.Phe2394Ser)
c.7193T>C (p.Phe2398Ser)
c.5318T>C (p.Phe1773Ser)
 dbSNP
6g.129460255T>GCA365619219LAMA2c.6923T>G (p.Phe2308Cys)
c.7187T>G (p.Phe2396Cys)
n.554T>G
n.262T>G
c.6920T>G (p.Phe2307Cys)
c.7181T>G (p.Phe2394Cys)
c.7193T>G (p.Phe2398Cys)
c.5318T>G (p.Phe1773Cys)
6g.129460255T=CA1663188371LAMA2c.6923T= (p.Phe2308=)
c.7187T= (p.Phe2396=)
n.554T=
n.262T=
c.6920T= (p.Phe2307=)
c.7181T= (p.Phe2394=)
c.7193T= (p.Phe2398=)
c.5318T= (p.Phe1773=)
6g.129460256T>ACA365619221LAMA2c.6924T>A (p.Phe2308Leu)
c.7188T>A (p.Phe2396Leu)
n.555T>A
n.263T>A
c.6921T>A (p.Phe2307Leu)
c.7182T>A (p.Phe2394Leu)
c.7194T>A (p.Phe2398Leu)
c.5319T>A (p.Phe1773Leu)
6g.129460256T>CCA451924927LAMA2c.6924T>C (p.Phe2308=)
c.7188T>C (p.Phe2396=)
n.555T>C
n.263T>C
c.6921T>C (p.Phe2307=)
c.7182T>C (p.Phe2394=)
c.7194T>C (p.Phe2398=)
c.5319T>C (p.Phe1773=)
6g.129460256T>GCA365619223LAMA2c.6924T>G (p.Phe2308Leu)
c.7188T>G (p.Phe2396Leu)
n.555T>G
n.263T>G
c.6921T>G (p.Phe2307Leu)
c.7182T>G (p.Phe2394Leu)
c.7194T>G (p.Phe2398Leu)
c.5319T>G (p.Phe1773Leu)
6g.129460257G>ACA365619224LAMA2c.6925G>A (p.Asp2309Asn)
c.7189G>A (p.Asp2397Asn)
n.556G>A
n.264G>A
c.6922G>A (p.Asp2308Asn)
c.7183G>A (p.Asp2395Asn)
c.7195G>A (p.Asp2399Asn)
c.5320G>A (p.Asp1774Asn)
6g.129460257G>CCA365619229LAMA2c.6925G>C (p.Asp2309His)
c.7189G>C (p.Asp2397His)
n.556G>C
n.264G>C
c.6922G>C (p.Asp2308His)
c.7183G>C (p.Asp2395His)
c.7195G>C (p.Asp2399His)
c.5320G>C (p.Asp1774His)
6g.129460257G=CA1663188372LAMA2c.6925G= (p.Asp2309=)
c.7189G= (p.Asp2397=)
n.556G=
n.264G=
c.6922G= (p.Asp2308=)
c.7183G= (p.Asp2395=)
c.7195G= (p.Asp2399=)
c.5320G= (p.Asp1774=)
6g.129460257G>TCA365619231LAMA2c.6925G>T (p.Asp2309Tyr)
c.7189G>T (p.Asp2397Tyr)
n.556G>T
n.264G>T
c.6922G>T (p.Asp2308Tyr)
c.7183G>T (p.Asp2395Tyr)
c.7195G>T (p.Asp2399Tyr)
c.5320G>T (p.Asp1774Tyr)
 dbSNP gnomAD v3 gnomAD v4
6g.129460258A>CCA365619233LAMA2c.6926A>C (p.Asp2309Ala)
c.7190A>C (p.Asp2397Ala)
n.557A>C
n.265A>C
c.6923A>C (p.Asp2308Ala)
c.7184A>C (p.Asp2395Ala)
c.7196A>C (p.Asp2399Ala)
c.5321A>C (p.Asp1774Ala)
6g.129460258A>GCA365619234LAMA2c.6926A>G (p.Asp2309Gly)
c.7190A>G (p.Asp2397Gly)
n.557A>G
n.265A>G
c.6923A>G (p.Asp2308Gly)
c.7184A>G (p.Asp2395Gly)
c.7196A>G (p.Asp2399Gly)
c.5321A>G (p.Asp1774Gly)
6g.129460258A>TCA365619235LAMA2c.6926A>T (p.Asp2309Val)
c.7190A>T (p.Asp2397Val)
n.557A>T
n.265A>T
c.6923A>T (p.Asp2308Val)
c.7184A>T (p.Asp2395Val)
c.7196A>T (p.Asp2399Val)
c.5321A>T (p.Asp1774Val)
6g.129460262_129460264delCA2680306997LAMA2c.6930_6932del (p.Asn2310del)
c.7194_7196del (p.Asn2398del)
n.561_563del
n.269_271del
c.6927_6929del (p.Asn2309del)
c.7188_7190del (p.Asn2396del)
c.7200_7202del (p.Asn2400del)
c.5325_5327del (p.Asn1775del)
 gnomAD v4
6g.129460259C>ACA365619239LAMA2c.6927C>A (p.Asp2309Glu)
c.7191C>A (p.Asp2397Glu)
n.558C>A
n.266C>A
c.6924C>A (p.Asp2308Glu)
c.7185C>A (p.Asp2395Glu)
c.7197C>A (p.Asp2399Glu)
c.5322C>A (p.Asp1774Glu)
6g.129460259C=CA1663188376LAMA2c.6927C= (p.Asp2309=)
c.7191C= (p.Asp2397=)
n.558C=
n.266C=
c.6924C= (p.Asp2308=)
c.7185C= (p.Asp2395=)
c.7197C= (p.Asp2399=)
c.5322C= (p.Asp1774=)
6g.129460259C>GCA365619237LAMA2c.6927C>G (p.Asp2309Glu)
c.7191C>G (p.Asp2397Glu)
n.558C>G
n.266C>G
c.6924C>G (p.Asp2308Glu)
c.7185C>G (p.Asp2395Glu)
c.7197C>G (p.Asp2399Glu)
c.5322C>G (p.Asp1774Glu)
6g.129460259C>TCA3994397LAMA2c.6927C>T (p.Asp2309=)
c.7191C>T (p.Asp2397=)
n.558C>T
n.266C>T
c.6924C>T (p.Asp2308=)
c.7185C>T (p.Asp2395=)
c.7197C>T (p.Asp2399=)
c.5322C>T (p.Asp1774=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129460260A>CCA365619240LAMA2c.6928A>C (p.Asn2310His)
c.7192A>C (p.Asn2398His)
n.559A>C
n.267A>C
c.6925A>C (p.Asn2309His)
c.7186A>C (p.Asn2396His)
c.7198A>C (p.Asn2400His)
c.5323A>C (p.Asn1775His)
6g.129460260A>GCA365619241LAMA2c.6928A>G (p.Asn2310Asp)
c.7192A>G (p.Asn2398Asp)
n.559A>G
n.267A>G
c.6925A>G (p.Asn2309Asp)
c.7186A>G (p.Asn2396Asp)
c.7198A>G (p.Asn2400Asp)
c.5323A>G (p.Asn1775Asp)
 gnomAD v4
6g.129460260A>TCA365619242LAMA2c.6928A>T (p.Asn2310Tyr)
c.7192A>T (p.Asn2398Tyr)
n.559A>T
n.267A>T
c.6925A>T (p.Asn2309Tyr)
c.7186A>T (p.Asn2396Tyr)
c.7198A>T (p.Asn2400Tyr)
c.5323A>T (p.Asn1775Tyr)
6g.129460261A>CCA365619243LAMA2c.6929A>C (p.Asn2310Thr)
c.7193A>C (p.Asn2398Thr)
n.560A>C
n.268A>C
c.6926A>C (p.Asn2309Thr)
c.7187A>C (p.Asn2396Thr)
c.7199A>C (p.Asn2400Thr)
c.5324A>C (p.Asn1775Thr)
6g.129460261A>GCA365619244LAMA2c.6929A>G (p.Asn2310Ser)
c.7193A>G (p.Asn2398Ser)
n.560A>G
n.268A>G
c.6926A>G (p.Asn2309Ser)
c.7187A>G (p.Asn2396Ser)
c.7199A>G (p.Asn2400Ser)
c.5324A>G (p.Asn1775Ser)
6g.129460261A>TCA365619247LAMA2c.6929A>T (p.Asn2310Ile)
c.7193A>T (p.Asn2398Ile)
n.560A>T
n.268A>T
c.6926A>T (p.Asn2309Ile)
c.7187A>T (p.Asn2396Ile)
c.7199A>T (p.Asn2400Ile)
c.5324A>T (p.Asn1775Ile)
6g.129460262C>ACA365619248LAMA2c.6930C>A (p.Asn2310Lys)
c.7194C>A (p.Asn2398Lys)
n.561C>A
n.269C>A
c.6927C>A (p.Asn2309Lys)
c.7188C>A (p.Asn2396Lys)
c.7200C>A (p.Asn2400Lys)
c.5325C>A (p.Asn1775Lys)
 gnomAD v4
6g.129460262C>GCA365619249LAMA2c.6930C>G (p.Asn2310Lys)
c.7194C>G (p.Asn2398Lys)
n.561C>G
n.269C>G
c.6927C>G (p.Asn2309Lys)
c.7188C>G (p.Asn2396Lys)
c.7200C>G (p.Asn2400Lys)
c.5325C>G (p.Asn1775Lys)
6g.129460262C>TCA451924932LAMA2c.6930C>T (p.Asn2310=)
c.7194C>T (p.Asn2398=)
n.561C>T
n.269C>T
c.6927C>T (p.Asn2309=)
c.7188C>T (p.Asn2396=)
c.7200C>T (p.Asn2400=)
c.5325C>T (p.Asn1775=)
6g.129460263A=CA1663188382LAMA2c.6931A= (p.Lys2311=)
c.7195A= (p.Lys2399=)
n.562A=
n.270A=
c.6928A= (p.Lys2310=)
c.7189A= (p.Lys2397=)
c.7201A= (p.Lys2401=)
c.5326A= (p.Lys1776=)
6g.129460263A>CCA365619251LAMA2c.6931A>C (p.Lys2311Gln)
c.7195A>C (p.Lys2399Gln)
n.562A>C
n.270A>C
c.6928A>C (p.Lys2310Gln)
c.7189A>C (p.Lys2397Gln)
c.7201A>C (p.Lys2401Gln)
c.5326A>C (p.Lys1776Gln)
6g.129460263A>GCA365619252LAMA2c.6931A>G (p.Lys2311Glu)
c.7195A>G (p.Lys2399Glu)
n.562A>G
n.270A>G
c.6928A>G (p.Lys2310Glu)
c.7189A>G (p.Lys2397Glu)
c.7201A>G (p.Lys2401Glu)
c.5326A>G (p.Lys1776Glu)
6g.129460263A>TCA365619254LAMA2c.6931A>T (p.Lys2311Ter)
c.7195A>T (p.Lys2399Ter)
n.562A>T
n.270A>T
c.6928A>T (p.Lys2310Ter)
c.7189A>T (p.Lys2397Ter)
c.7201A>T (p.Lys2401Ter)
c.5326A>T (p.Lys1776Ter)
 dbSNP gnomAD v2 gnomAD v4
6g.129460264A>CCA365619257LAMA2c.6932A>C (p.Lys2311Thr)
c.7196A>C (p.Lys2399Thr)
n.563A>C
n.271A>C
c.6929A>C (p.Lys2310Thr)
c.7190A>C (p.Lys2397Thr)
c.7202A>C (p.Lys2401Thr)
c.5327A>C (p.Lys1776Thr)
6g.129460264A>GCA365619256LAMA2c.6932A>G (p.Lys2311Arg)
c.7196A>G (p.Lys2399Arg)
n.563A>G
n.271A>G
c.6929A>G (p.Lys2310Arg)
c.7190A>G (p.Lys2397Arg)
c.7202A>G (p.Lys2401Arg)
c.5327A>G (p.Lys1776Arg)
6g.129460264A>TCA365619255LAMA2c.6932A>T (p.Lys2311Ile)
c.7196A>T (p.Lys2399Ile)
n.563A>T
n.271A>T
c.6929A>T (p.Lys2310Ile)
c.7190A>T (p.Lys2397Ile)
c.7202A>T (p.Lys2401Ile)
c.5327A>T (p.Lys1776Ile)
6g.129460265A>CCA365619258LAMA2c.6933A>C (p.Lys2311Asn)
c.7197A>C (p.Lys2399Asn)
n.564A>C
n.272A>C
c.6930A>C (p.Lys2310Asn)
c.7191A>C (p.Lys2397Asn)
c.7203A>C (p.Lys2401Asn)
c.5328A>C (p.Lys1776Asn)
6g.129460265A>GCA451924934LAMA2c.6933A>G (p.Lys2311=)
c.7197A>G (p.Lys2399=)
n.564A>G
n.272A>G
c.6930A>G (p.Lys2310=)
c.7191A>G (p.Lys2397=)
c.7203A>G (p.Lys2401=)
c.5328A>G (p.Lys1776=)
6g.129460265A>TCA365619259LAMA2c.6933A>T (p.Lys2311Asn)
c.7197A>T (p.Lys2399Asn)
n.564A>T
n.272A>T
c.6930A>T (p.Lys2310Asn)
c.7191A>T (p.Lys2397Asn)
c.7203A>T (p.Lys2401Asn)
c.5328A>T (p.Lys1776Asn)
6g.129460266C>ACA365619261LAMA2c.6934C>A (p.Pro2312Thr)
c.7198C>A (p.Pro2400Thr)
n.565C>A
n.273C>A
c.6931C>A (p.Pro2311Thr)
c.7192C>A (p.Pro2398Thr)
c.7204C>A (p.Pro2402Thr)
c.5329C>A (p.Pro1777Thr)
6g.129460266C=CA1663188385LAMA2c.6934C= (p.Pro2312=)
c.7198C= (p.Pro2400=)
n.565C=
n.273C=
c.6931C= (p.Pro2311=)
c.7192C= (p.Pro2398=)
c.7204C= (p.Pro2402=)
c.5329C= (p.Pro1777=)
6g.129460266C>GCA365619263LAMA2c.6934C>G (p.Pro2312Ala)
c.7198C>G (p.Pro2400Ala)
n.565C>G
n.273C>G
c.6931C>G (p.Pro2311Ala)
c.7192C>G (p.Pro2398Ala)
c.7204C>G (p.Pro2402Ala)
c.5329C>G (p.Pro1777Ala)
6g.129460266C>TCA3994398LAMA2c.6934C>T (p.Pro2312Ser)
c.7198C>T (p.Pro2400Ser)
n.565C>T
n.273C>T
c.6931C>T (p.Pro2311Ser)
c.7192C>T (p.Pro2398Ser)
c.7204C>T (p.Pro2402Ser)
c.5329C>T (p.Pro1777Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129460267C>ACA365619265LAMA2c.6935C>A (p.Pro2312His)
c.7199C>A (p.Pro2400His)
n.566C>A
n.274C>A
c.6932C>A (p.Pro2311His)
c.7193C>A (p.Pro2398His)
c.7205C>A (p.Pro2402His)
c.5330C>A (p.Pro1777His)
6g.129460267C=CA1663188388LAMA2c.6935C= (p.Pro2312=)
c.7199C= (p.Pro2400=)
n.566C=
n.274C=
c.6932C= (p.Pro2311=)
c.7193C= (p.Pro2398=)
c.7205C= (p.Pro2402=)
c.5330C= (p.Pro1777=)
6g.129460267C>GCA365619266LAMA2c.6935C>G (p.Pro2312Arg)
c.7199C>G (p.Pro2400Arg)
n.566C>G
n.274C>G
c.6932C>G (p.Pro2311Arg)
c.7193C>G (p.Pro2398Arg)
c.7205C>G (p.Pro2402Arg)
c.5330C>G (p.Pro1777Arg)
6g.129460267C>TCA365619267LAMA2c.6935C>T (p.Pro2312Leu)
c.7199C>T (p.Pro2400Leu)
n.566C>T
n.274C>T
c.6932C>T (p.Pro2311Leu)
c.7193C>T (p.Pro2398Leu)
c.7205C>T (p.Pro2402Leu)
c.5330C>T (p.Pro1777Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.129460268T>ACA451924936LAMA2c.6936T>A (p.Pro2312=)
c.7200T>A (p.Pro2400=)
n.567T>A
n.275T>A
c.6933T>A (p.Pro2311=)
c.7194T>A (p.Pro2398=)
c.7206T>A (p.Pro2402=)
c.5331T>A (p.Pro1777=)
6g.129460268T>CCA451924937LAMA2c.6936T>C (p.Pro2312=)
c.7200T>C (p.Pro2400=)
n.567T>C
n.275T>C
c.6933T>C (p.Pro2311=)
c.7194T>C (p.Pro2398=)
c.7206T>C (p.Pro2402=)
c.5331T>C (p.Pro1777=)
6g.129460268T>GCA451924938LAMA2c.6936T>G (p.Pro2312=)
c.7200T>G (p.Pro2400=)
n.567T>G
n.275T>G
c.6933T>G (p.Pro2311=)
c.7194T>G (p.Pro2398=)
c.7206T>G (p.Pro2402=)
c.5331T>G (p.Pro1777=)
6g.129460269A>CCA365619269LAMA2c.6937A>C (p.Ile2313Leu)
c.7201A>C (p.Ile2401Leu)
n.568A>C
n.276A>C
c.6934A>C (p.Ile2312Leu)
c.7195A>C (p.Ile2399Leu)
c.7207A>C (p.Ile2403Leu)
c.5332A>C (p.Ile1778Leu)
6g.129460269A>GCA365619271LAMA2c.6937A>G (p.Ile2313Val)
c.7201A>G (p.Ile2401Val)
n.568A>G
n.276A>G
c.6934A>G (p.Ile2312Val)
c.7195A>G (p.Ile2399Val)
c.7207A>G (p.Ile2403Val)
c.5332A>G (p.Ile1778Val)
6g.129460269A>TCA365619273LAMA2c.6937A>T (p.Ile2313Leu)
c.7201A>T (p.Ile2401Leu)
n.568A>T
n.276A>T
c.6934A>T (p.Ile2312Leu)
c.7195A>T (p.Ile2399Leu)
c.7207A>T (p.Ile2403Leu)
c.5332A>T (p.Ile1778Leu)
6g.129460270T>ACA365619275LAMA2c.6938T>A (p.Ile2313Lys)
c.7202T>A (p.Ile2401Lys)
n.569T>A
n.277T>A
c.6935T>A (p.Ile2312Lys)
c.7196T>A (p.Ile2399Lys)
c.7208T>A (p.Ile2403Lys)
c.5333T>A (p.Ile1778Lys)
6g.129460270T>CCA365619277LAMA2c.6938T>C (p.Ile2313Thr)
c.7202T>C (p.Ile2401Thr)
n.569T>C
n.277T>C
c.6935T>C (p.Ile2312Thr)
c.7196T>C (p.Ile2399Thr)
c.7208T>C (p.Ile2403Thr)
c.5333T>C (p.Ile1778Thr)
 gnomAD v4
6g.129460270T>GCA365619278LAMA2c.6938T>G (p.Ile2313Arg)
c.7202T>G (p.Ile2401Arg)
n.569T>G
n.277T>G
c.6935T>G (p.Ile2312Arg)
c.7196T>G (p.Ile2399Arg)
c.7208T>G (p.Ile2403Arg)
c.5333T>G (p.Ile1778Arg)
6g.129460271A>CCA451924940LAMA2c.6939A>C (p.Ile2313=)
c.7203A>C (p.Ile2401=)
n.570A>C
n.278A>C
c.6936A>C (p.Ile2312=)
c.7197A>C (p.Ile2399=)
c.7209A>C (p.Ile2403=)
c.5334A>C (p.Ile1778=)
6g.129460271A>GCA365619280LAMA2c.6939A>G (p.Ile2313Met)
c.7203A>G (p.Ile2401Met)
n.570A>G
n.278A>G
c.6936A>G (p.Ile2312Met)
c.7197A>G (p.Ile2399Met)
c.7209A>G (p.Ile2403Met)
c.5334A>G (p.Ile1778Met)
6g.129460271A>TCA451924941LAMA2c.6939A>T (p.Ile2313=)
c.7203A>T (p.Ile2401=)
n.570A>T
n.278A>T
c.6936A>T (p.Ile2312=)
c.7197A>T (p.Ile2399=)
c.7209A>T (p.Ile2403=)
c.5334A>T (p.Ile1778=)
6g.129460272G>ACA365619282LAMA2c.6940G>A (p.Gly2314Ser)
c.7204G>A (p.Gly2402Ser)
n.571G>A
n.279G>A
c.6937G>A (p.Gly2313Ser)
c.7198G>A (p.Gly2400Ser)
c.7210G>A (p.Gly2404Ser)
c.5335G>A (p.Gly1779Ser)
 gnomAD v4
6g.129460272G>CCA365619285LAMA2c.6940G>C (p.Gly2314Arg)
c.7204G>C (p.Gly2402Arg)
n.571G>C
n.279G>C
c.6937G>C (p.Gly2313Arg)
c.7198G>C (p.Gly2400Arg)
c.7210G>C (p.Gly2404Arg)
c.5335G>C (p.Gly1779Arg)
 gnomAD v4
6g.129460272G>TCA365619284LAMA2c.6940G>T (p.Gly2314Cys)
c.7204G>T (p.Gly2402Cys)
n.571G>T
n.279G>T
c.6937G>T (p.Gly2313Cys)
c.7198G>T (p.Gly2400Cys)
c.7210G>T (p.Gly2404Cys)
c.5335G>T (p.Gly1779Cys)
6g.129460273G>ACA365619287LAMA2c.6941G>A (p.Gly2314Asp)
c.7205G>A (p.Gly2402Asp)
n.572G>A
n.280G>A
c.6938G>A (p.Gly2313Asp)
c.7199G>A (p.Gly2400Asp)
c.7211G>A (p.Gly2404Asp)
c.5336G>A (p.Gly1779Asp)
6g.129460273G>CCA365619289LAMA2c.6941G>C (p.Gly2314Ala)
c.7205G>C (p.Gly2402Ala)
n.572G>C
n.280G>C
c.6938G>C (p.Gly2313Ala)
c.7199G>C (p.Gly2400Ala)
c.7211G>C (p.Gly2404Ala)
c.5336G>C (p.Gly1779Ala)
6g.129460273G>TCA365619291LAMA2c.6941G>T (p.Gly2314Val)
c.7205G>T (p.Gly2402Val)
n.572G>T
n.280G>T
c.6938G>T (p.Gly2313Val)
c.7199G>T (p.Gly2400Val)
c.7211G>T (p.Gly2404Val)
c.5336G>T (p.Gly1779Val)
6g.129460274T>ACA451924943LAMA2c.6942T>A (p.Gly2314=)
c.7206T>A (p.Gly2402=)
n.573T>A
n.281T>A
c.6939T>A (p.Gly2313=)
c.7200T>A (p.Gly2400=)
c.7212T>A (p.Gly2404=)
c.5337T>A (p.Gly1779=)
 gnomAD v4
6g.129460274T>CCA451924944LAMA2c.6942T>C (p.Gly2314=)
c.7206T>C (p.Gly2402=)
n.573T>C
n.281T>C
c.6939T>C (p.Gly2313=)
c.7200T>C (p.Gly2400=)
c.7212T>C (p.Gly2404=)
c.5337T>C (p.Gly1779=)
6g.129460274T>GCA451924945LAMA2c.6942T>G (p.Gly2314=)
c.7206T>G (p.Gly2402=)
n.573T>G
n.281T>G
c.6939T>G (p.Gly2313=)
c.7200T>G (p.Gly2400=)
c.7212T>G (p.Gly2404=)
c.5337T>G (p.Gly1779=)
6g.129460275T>ACA365619292LAMA2c.6943T>A (p.Leu2315Met)
c.7207T>A (p.Leu2403Met)
n.574T>A
n.282T>A
c.6940T>A (p.Leu2314Met)
c.7201T>A (p.Leu2401Met)
c.7213T>A (p.Leu2405Met)
c.5338T>A (p.Leu1780Met)
6g.129460275T>CCA451924946LAMA2c.6943T>C (p.Leu2315=)
c.7207T>C (p.Leu2403=)
n.574T>C
n.282T>C
c.6940T>C (p.Leu2314=)
c.7201T>C (p.Leu2401=)
c.7213T>C (p.Leu2405=)
c.5338T>C (p.Leu1780=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129460275T>GCA365619293LAMA2c.6943T>G (p.Leu2315Val)
c.7207T>G (p.Leu2403Val)
n.574T>G
n.282T>G
c.6940T>G (p.Leu2314Val)
c.7201T>G (p.Leu2401Val)
c.7213T>G (p.Leu2405Val)
c.5338T>G (p.Leu1780Val)
6g.129460275T=CA1663188390LAMA2c.6943T= (p.Leu2315=)
c.7207T= (p.Leu2403=)
n.574T=
n.282T=
c.6940T= (p.Leu2314=)
c.7201T= (p.Leu2401=)
c.7213T= (p.Leu2405=)
c.5338T= (p.Leu1780=)
6g.129460276T>ACA365619295LAMA2c.6944T>A (p.Leu2315Ter)
c.7208T>A (p.Leu2403Ter)
n.575T>A
n.283T>A
c.6941T>A (p.Leu2314Ter)
c.7202T>A (p.Leu2401Ter)
c.7214T>A (p.Leu2405Ter)
c.5339T>A (p.Leu1780Ter)
6g.129460276T>CCA365619297LAMA2c.6944T>C (p.Leu2315Ser)
c.7208T>C (p.Leu2403Ser)
n.575T>C
n.283T>C
c.6941T>C (p.Leu2314Ser)
c.7202T>C (p.Leu2401Ser)
c.7214T>C (p.Leu2405Ser)
c.5339T>C (p.Leu1780Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.129460276T>GCA365619298LAMA2c.6944T>G (p.Leu2315Trp)
c.7208T>G (p.Leu2403Trp)
n.575T>G
n.283T>G
c.6941T>G (p.Leu2314Trp)
c.7202T>G (p.Leu2401Trp)
c.7214T>G (p.Leu2405Trp)
c.5339T>G (p.Leu1780Trp)
6g.129460276T=CA1663188394LAMA2c.6944T= (p.Leu2315=)
c.7208T= (p.Leu2403=)
n.575T=
n.283T=
c.6941T= (p.Leu2314=)
c.7202T= (p.Leu2401=)
c.7214T= (p.Leu2405=)
c.5339T= (p.Leu1780=)
6g.129460277G>ACA451924948LAMA2c.6945G>A (p.Leu2315=)
c.7209G>A (p.Leu2403=)
n.576G>A
n.284G>A
c.6942G>A (p.Leu2314=)
c.7203G>A (p.Leu2401=)
c.7215G>A (p.Leu2405=)
c.5340G>A (p.Leu1780=)
 dbSNP
6g.129460277G>CCA365619300LAMA2c.6945G>C (p.Leu2315Phe)
c.7209G>C (p.Leu2403Phe)
n.576G>C
n.284G>C
c.6942G>C (p.Leu2314Phe)
c.7203G>C (p.Leu2401Phe)
c.7215G>C (p.Leu2405Phe)
c.5340G>C (p.Leu1780Phe)
 gnomAD v4
6g.129460277G=CA1663188398LAMA2c.6945G= (p.Leu2315=)
c.7209G= (p.Leu2403=)
n.576G=
n.284G=
c.6942G= (p.Leu2314=)
c.7203G= (p.Leu2401=)
c.7215G= (p.Leu2405=)
c.5340G= (p.Leu1780=)
6g.129460277G>TCA365619302LAMA2c.6945G>T (p.Leu2315Phe)
c.7209G>T (p.Leu2403Phe)
n.576G>T
n.284G>T
c.6942G>T (p.Leu2314Phe)
c.7203G>T (p.Leu2401Phe)
c.7215G>T (p.Leu2405Phe)
c.5340G>T (p.Leu1780Phe)
6g.129460278T>ACA365619308LAMA2c.6946T>A (p.Trp2316Arg)
c.7210T>A (p.Trp2404Arg)
n.577T>A
n.285T>A
c.6943T>A (p.Trp2315Arg)
c.7204T>A (p.Trp2402Arg)
c.7216T>A (p.Trp2406Arg)
c.5341T>A (p.Trp1781Arg)
6g.129460278T>CCA365619306LAMA2c.6946T>C (p.Trp2316Arg)
c.7210T>C (p.Trp2404Arg)
n.577T>C
n.285T>C
c.6943T>C (p.Trp2315Arg)
c.7204T>C (p.Trp2402Arg)
c.7216T>C (p.Trp2406Arg)
c.5341T>C (p.Trp1781Arg)
6g.129460278T>GCA365619304LAMA2c.6946T>G (p.Trp2316Gly)
c.7210T>G (p.Trp2404Gly)
n.577T>G
n.285T>G
c.6943T>G (p.Trp2315Gly)
c.7204T>G (p.Trp2402Gly)
c.7216T>G (p.Trp2406Gly)
c.5341T>G (p.Trp1781Gly)
6g.129460279G>ACA3994399LAMA2c.6947G>A (p.Trp2316Ter)
c.7211G>A (p.Trp2404Ter)
n.578G>A
n.286G>A
c.6944G>A (p.Trp2315Ter)
c.7205G>A (p.Trp2402Ter)
c.7217G>A (p.Trp2406Ter)
c.5342G>A (p.Trp1781Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129460279G>CCA365619309LAMA2c.6947G>C (p.Trp2316Ser)
c.7211G>C (p.Trp2404Ser)
n.578G>C
n.286G>C
c.6944G>C (p.Trp2315Ser)
c.7205G>C (p.Trp2402Ser)
c.7217G>C (p.Trp2406Ser)
c.5342G>C (p.Trp1781Ser)
6g.129460279G=CA1663188401LAMA2c.6947G= (p.Trp2316=)
c.7211G= (p.Trp2404=)
n.578G=
n.286G=
c.6944G= (p.Trp2315=)
c.7205G= (p.Trp2402=)
c.7217G= (p.Trp2406=)
c.5342G= (p.Trp1781=)
6g.129460279G>TCA365619311LAMA2c.6947G>T (p.Trp2316Leu)
c.7211G>T (p.Trp2404Leu)
n.578G>T
n.286G>T
c.6944G>T (p.Trp2315Leu)
c.7205G>T (p.Trp2402Leu)
c.7217G>T (p.Trp2406Leu)
c.5342G>T (p.Trp1781Leu)
6g.129460280G>ACA365619313LAMA2c.6948G>A (p.Trp2316Ter)
c.7212G>A (p.Trp2404Ter)
n.579G>A
n.287G>A
c.6945G>A (p.Trp2315Ter)
c.7206G>A (p.Trp2402Ter)
c.7218G>A (p.Trp2406Ter)
c.5343G>A (p.Trp1781Ter)
 ClinVar dbSNP
6g.129460280G>CCA365619315LAMA2c.6948G>C (p.Trp2316Cys)
c.7212G>C (p.Trp2404Cys)
n.579G>C
n.287G>C
c.6945G>C (p.Trp2315Cys)
c.7206G>C (p.Trp2402Cys)
c.7218G>C (p.Trp2406Cys)
c.5343G>C (p.Trp1781Cys)
6g.129460280G=CA1663188404LAMA2c.6948G= (p.Trp2316=)
c.7212G= (p.Trp2404=)
n.579G=
n.287G=
c.6945G= (p.Trp2315=)
c.7206G= (p.Trp2402=)
c.7218G= (p.Trp2406=)
c.5343G= (p.Trp1781=)
6g.129460280G>TCA365619316LAMA2c.6948G>T (p.Trp2316Cys)
c.7212G>T (p.Trp2404Cys)
n.579G>T
n.287G>T
c.6945G>T (p.Trp2315Cys)
c.7206G>T (p.Trp2402Cys)
c.7218G>T (p.Trp2406Cys)
c.5343G>T (p.Trp1781Cys)
6g.129460281A=CA1663188409LAMA2c.6949A= (p.Asn2317=)
c.7213A= (p.Asn2405=)
n.580A=
n.288A=
c.6946A= (p.Asn2316=)
c.7207A= (p.Asn2403=)
c.7219A= (p.Asn2407=)
c.5344A= (p.Asn1782=)
6g.129460281A>CCA365619318LAMA2c.6949A>C (p.Asn2317His)
c.7213A>C (p.Asn2405His)
n.580A>C
n.288A>C
c.6946A>C (p.Asn2316His)
c.7207A>C (p.Asn2403His)
c.7219A>C (p.Asn2407His)
c.5344A>C (p.Asn1782His)
6g.129460281A>GCA146888586LAMA2c.6949A>G (p.Asn2317Asp)
c.7213A>G (p.Asn2405Asp)
n.580A>G
n.288A>G
c.6946A>G (p.Asn2316Asp)
c.7207A>G (p.Asn2403Asp)
c.7219A>G (p.Asn2407Asp)
c.5344A>G (p.Asn1782Asp)
 dbSNP gnomAD v4
6g.129460281A>TCA365619320LAMA2c.6949A>T (p.Asn2317Tyr)
c.7213A>T (p.Asn2405Tyr)
n.580A>T
n.288A>T
c.6946A>T (p.Asn2316Tyr)
c.7207A>T (p.Asn2403Tyr)
c.7219A>T (p.Asn2407Tyr)
c.5344A>T (p.Asn1782Tyr)
6g.129460282A>CCA365619321LAMA2c.6950A>C (p.Asn2317Thr)
c.7214A>C (p.Asn2405Thr)
n.581A>C
n.289A>C
c.6947A>C (p.Asn2316Thr)
c.7208A>C (p.Asn2403Thr)
c.7220A>C (p.Asn2407Thr)
c.5345A>C (p.Asn1782Thr)
6g.129460282A>GCA365619322LAMA2c.6950A>G (p.Asn2317Ser)
c.7214A>G (p.Asn2405Ser)
n.581A>G
n.289A>G
c.6947A>G (p.Asn2316Ser)
c.7208A>G (p.Asn2403Ser)
c.7220A>G (p.Asn2407Ser)
c.5345A>G (p.Asn1782Ser)
6g.129460282A>TCA365619323LAMA2c.6950A>T (p.Asn2317Ile)
c.7214A>T (p.Asn2405Ile)
n.581A>T
n.289A>T
c.6947A>T (p.Asn2316Ile)
c.7208A>T (p.Asn2403Ile)
c.7220A>T (p.Asn2407Ile)
c.5345A>T (p.Asn1782Ile)
6g.129460283T>ACA365619326LAMA2c.6951T>A (p.Asn2317Lys)
c.7215T>A (p.Asn2405Lys)
n.582T>A
n.290T>A
c.6948T>A (p.Asn2316Lys)
c.7209T>A (p.Asn2403Lys)
c.7221T>A (p.Asn2407Lys)
c.5346T>A (p.Asn1782Lys)
6g.129460283T>CCA451924951LAMA2c.6951T>C (p.Asn2317=)
c.7215T>C (p.Asn2405=)
n.582T>C
n.290T>C
c.6948T>C (p.Asn2316=)
c.7209T>C (p.Asn2403=)
c.7221T>C (p.Asn2407=)
c.5346T>C (p.Asn1782=)
6g.129460283T>GCA365619324LAMA2c.6951T>G (p.Asn2317Lys)
c.7215T>G (p.Asn2405Lys)
n.582T>G
n.290T>G
c.6948T>G (p.Asn2316Lys)
c.7209T>G (p.Asn2403Lys)
c.7221T>G (p.Asn2407Lys)
c.5346T>G (p.Asn1782Lys)
6g.129460284T>ACA3994400LAMA2c.6952T>A (p.Phe2318Ile)
c.7216T>A (p.Phe2406Ile)
n.583T>A
n.291T>A
c.6949T>A (p.Phe2317Ile)
c.7210T>A (p.Phe2404Ile)
c.7222T>A (p.Phe2408Ile)
c.5347T>A (p.Phe1783Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129460284T>CCA365619328LAMA2c.6952T>C (p.Phe2318Leu)
c.7216T>C (p.Phe2406Leu)
n.583T>C
n.291T>C
c.6949T>C (p.Phe2317Leu)
c.7210T>C (p.Phe2404Leu)
c.7222T>C (p.Phe2408Leu)
c.5347T>C (p.Phe1783Leu)
6g.129460284T>GCA365619329LAMA2c.6952T>G (p.Phe2318Val)
c.7216T>G (p.Phe2406Val)
n.583T>G
n.291T>G
c.6949T>G (p.Phe2317Val)
c.7210T>G (p.Phe2404Val)
c.7222T>G (p.Phe2408Val)
c.5347T>G (p.Phe1783Val)
6g.129460284T=CA1663188414LAMA2c.6952T= (p.Phe2318=)
c.7216T= (p.Phe2406=)
n.583T=
n.291T=
c.6949T= (p.Phe2317=)
c.7210T= (p.Phe2404=)
c.7222T= (p.Phe2408=)
c.5347T= (p.Phe1783=)
6g.129460285T>ACA365619330LAMA2c.6953T>A (p.Phe2318Tyr)
c.7217T>A (p.Phe2406Tyr)
n.584T>A
n.292T>A
c.6950T>A (p.Phe2317Tyr)
c.7211T>A (p.Phe2404Tyr)
c.7223T>A (p.Phe2408Tyr)
c.5348T>A (p.Phe1783Tyr)
6g.129460285T>CCA365619332LAMA2c.6953T>C (p.Phe2318Ser)
c.7217T>C (p.Phe2406Ser)
n.584T>C
n.292T>C
c.6950T>C (p.Phe2317Ser)
c.7211T>C (p.Phe2404Ser)
c.7223T>C (p.Phe2408Ser)
c.5348T>C (p.Phe1783Ser)
6g.129460285T>GCA365619334LAMA2c.6953T>G (p.Phe2318Cys)
c.7217T>G (p.Phe2406Cys)
n.584T>G
n.292T>G
c.6950T>G (p.Phe2317Cys)
c.7211T>G (p.Phe2404Cys)
c.7223T>G (p.Phe2408Cys)
c.5348T>G (p.Phe1783Cys)
6g.129460286C>ACA365619336LAMA2c.6954C>A (p.Phe2318Leu)
c.7218C>A (p.Phe2406Leu)
n.585C>A
n.293C>A
c.6951C>A (p.Phe2317Leu)
c.7212C>A (p.Phe2404Leu)
c.7224C>A (p.Phe2408Leu)
c.5349C>A (p.Phe1783Leu)
6g.129460286C=CA1663188421LAMA2c.6954C= (p.Phe2318=)
c.7218C= (p.Phe2406=)
n.585C=
n.293C=
c.6951C= (p.Phe2317=)
c.7212C= (p.Phe2404=)
c.7224C= (p.Phe2408=)
c.5349C= (p.Phe1783=)
6g.129460286C>GCA365619337LAMA2c.6954C>G (p.Phe2318Leu)
c.7218C>G (p.Phe2406Leu)
n.585C>G
n.293C>G
c.6951C>G (p.Phe2317Leu)
c.7212C>G (p.Phe2404Leu)
c.7224C>G (p.Phe2408Leu)
c.5349C>G (p.Phe1783Leu)
6g.129460286C>TCA451924954LAMA2c.6954C>T (p.Phe2318=)
c.7218C>T (p.Phe2406=)
n.585C>T
n.293C>T
c.6951C>T (p.Phe2317=)
c.7212C>T (p.Phe2404=)
c.7224C>T (p.Phe2408=)
c.5349C>T (p.Phe1783=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129460287C>ACA451924955LAMA2c.6955C>A (p.Arg2319=)
c.7219C>A (p.Arg2407=)
n.586C>A
n.294C>A
c.6952C>A (p.Arg2318=)
c.7213C>A (p.Arg2405=)
c.7225C>A (p.Arg2409=)
c.5350C>A (p.Arg1784=)
6g.129460287C=CA1663188427LAMA2c.6955C= (p.Arg2319=)
c.7219C= (p.Arg2407=)
n.586C=
n.294C=
c.6952C= (p.Arg2318=)
c.7213C= (p.Arg2405=)
c.7225C= (p.Arg2409=)
c.5350C= (p.Arg1784=)
6g.129460287C>GCA365619339LAMA2c.6955C>G (p.Arg2319Gly)
c.7219C>G (p.Arg2407Gly)
n.586C>G
n.294C>G
c.6952C>G (p.Arg2318Gly)
c.7213C>G (p.Arg2405Gly)
c.7225C>G (p.Arg2409Gly)
c.5350C>G (p.Arg1784Gly)
6g.129460287C>TCA220792LAMA2c.6955C>T (p.Arg2319Ter)
c.7219C>T (p.Arg2407Ter)
n.586C>T
n.294C>T
c.6952C>T (p.Arg2318Ter)
c.7213C>T (p.Arg2405Ter)
c.7225C>T (p.Arg2409Ter)
c.5350C>T (p.Arg1784Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched