Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129314713C>ACA365612295LAMA2c.3470C>A (p.Ala1157Asp)
c.3734C>A (p.Ala1245Asp)
c.3740C>A (p.Ala1247Asp)
c.1865C>A (p.Ala622Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129314713C=CA1663078543LAMA2c.3470C= (p.Ala1157=)
c.3734C= (p.Ala1245=)
c.3740C= (p.Ala1247=)
c.1865C= (p.Ala622=)
6g.129314713C>GCA365612296LAMA2c.3470C>G (p.Ala1157Gly)
c.3734C>G (p.Ala1245Gly)
c.3740C>G (p.Ala1247Gly)
c.1865C>G (p.Ala622Gly)
6g.129314713C>TCA365612297LAMA2c.3470C>T (p.Ala1157Val)
c.3734C>T (p.Ala1245Val)
c.3740C>T (p.Ala1247Val)
c.1865C>T (p.Ala622Val)
6g.129314714C>ACA451936631LAMA2c.3471C>A (p.Ala1157=)
c.3735C>A (p.Ala1245=)
c.3741C>A (p.Ala1247=)
c.1866C>A (p.Ala622=)
6g.129314714C=CA1663078546LAMA2c.3471C= (p.Ala1157=)
c.3735C= (p.Ala1245=)
c.3741C= (p.Ala1247=)
c.1866C= (p.Ala622=)
6g.129314714C>GCA451936632LAMA2c.3471C>G (p.Ala1157=)
c.3735C>G (p.Ala1245=)
c.3741C>G (p.Ala1247=)
c.1866C>G (p.Ala622=)
6g.129314714C>TCA3993271LAMA2c.3471C>T (p.Ala1157=)
c.3735C>T (p.Ala1245=)
c.3741C>T (p.Ala1247=)
c.1866C>T (p.Ala622=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129314715A>CCA365612298LAMA2c.3472A>C (p.Lys1158Gln)
c.3736A>C (p.Lys1246Gln)
c.3742A>C (p.Lys1248Gln)
c.1867A>C (p.Lys623Gln)
6g.129314715A>GCA365612299LAMA2c.3472A>G (p.Lys1158Glu)
c.3736A>G (p.Lys1246Glu)
c.3742A>G (p.Lys1248Glu)
c.1867A>G (p.Lys623Glu)
6g.129314715A>TCA365612300LAMA2c.3472A>T (p.Lys1158Ter)
c.3736A>T (p.Lys1246Ter)
c.3742A>T (p.Lys1248Ter)
c.1867A>T (p.Lys623Ter)
6g.129314716A>CCA365612303LAMA2c.3473A>C (p.Lys1158Thr)
c.3737A>C (p.Lys1246Thr)
c.3743A>C (p.Lys1248Thr)
c.1868A>C (p.Lys623Thr)
6g.129314716A>GCA365612302LAMA2c.3473A>G (p.Lys1158Arg)
c.3737A>G (p.Lys1246Arg)
c.3743A>G (p.Lys1248Arg)
c.1868A>G (p.Lys623Arg)
6g.129314716A>TCA365612301LAMA2c.3473A>T (p.Lys1158Met)
c.3737A>T (p.Lys1246Met)
c.3743A>T (p.Lys1248Met)
c.1868A>T (p.Lys623Met)
6g.129314717G>ACA451936633LAMA2c.3474G>A (p.Lys1158=)
c.3738G>A (p.Lys1246=)
c.3744G>A (p.Lys1248=)
c.1869G>A (p.Lys623=)
 ClinVar gnomAD v4
6g.129314717G>CCA365612304LAMA2c.3474G>C (p.Lys1158Asn)
c.3738G>C (p.Lys1246Asn)
c.3744G>C (p.Lys1248Asn)
c.1869G>C (p.Lys623Asn)
6g.129314717G>TCA365612305LAMA2c.3474G>T (p.Lys1158Asn)
c.3738G>T (p.Lys1246Asn)
c.3744G>T (p.Lys1248Asn)
c.1869G>T (p.Lys623Asn)
6g.129314718A>CCA365612306LAMA2c.3475A>C (p.Asn1159His)
c.3739A>C (p.Asn1247His)
c.3745A>C (p.Asn1249His)
c.1870A>C (p.Asn624His)
6g.129314718A>GCA365612307LAMA2c.3475A>G (p.Asn1159Asp)
c.3739A>G (p.Asn1247Asp)
c.3745A>G (p.Asn1249Asp)
c.1870A>G (p.Asn624Asp)
6g.129314718A>TCA365612308LAMA2c.3475A>T (p.Asn1159Tyr)
c.3739A>T (p.Asn1247Tyr)
c.3745A>T (p.Asn1249Tyr)
c.1870A>T (p.Asn624Tyr)
 gnomAD v4
6g.129314719A>CCA365612309LAMA2c.3476A>C (p.Asn1159Thr)
c.3740A>C (p.Asn1247Thr)
c.3746A>C (p.Asn1249Thr)
c.1871A>C (p.Asn624Thr)
6g.129314719A>GCA365612310LAMA2c.3476A>G (p.Asn1159Ser)
c.3740A>G (p.Asn1247Ser)
c.3746A>G (p.Asn1249Ser)
c.1871A>G (p.Asn624Ser)
6g.129314719A>TCA365612311LAMA2c.3476A>T (p.Asn1159Ile)
c.3740A>T (p.Asn1247Ile)
c.3746A>T (p.Asn1249Ile)
c.1871A>T (p.Asn624Ile)
6g.129314720T>ACA365612312LAMA2c.3477T>A (p.Asn1159Lys)
c.3741T>A (p.Asn1247Lys)
c.3747T>A (p.Asn1249Lys)
c.1872T>A (p.Asn624Lys)
6g.129314720T>CCA451936634LAMA2c.3477T>C (p.Asn1159=)
c.3741T>C (p.Asn1247=)
c.3747T>C (p.Asn1249=)
c.1872T>C (p.Asn624=)
6g.129314720T>GCA365612313LAMA2c.3477T>G (p.Asn1159Lys)
c.3741T>G (p.Asn1247Lys)
c.3747T>G (p.Asn1249Lys)
c.1872T>G (p.Asn624Lys)
 gnomAD v4
6g.129314721C>ACA146913407LAMA2c.3478C>A (p.Pro1160Thr)
c.3742C>A (p.Pro1248Thr)
c.3748C>A (p.Pro1250Thr)
c.1873C>A (p.Pro625Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129314721C=CA1663078554LAMA2c.3478C= (p.Pro1160=)
c.3742C= (p.Pro1248=)
c.3748C= (p.Pro1250=)
c.1873C= (p.Pro625=)
6g.129314721C>GCA365612314LAMA2c.3478C>G (p.Pro1160Ala)
c.3742C>G (p.Pro1248Ala)
c.3748C>G (p.Pro1250Ala)
c.1873C>G (p.Pro625Ala)
 COSMIC
6g.129314721C>TCA365612315LAMA2c.3478C>T (p.Pro1160Ser)
c.3742C>T (p.Pro1248Ser)
c.3748C>T (p.Pro1250Ser)
c.1873C>T (p.Pro625Ser)
 gnomAD v4
6g.129314722C>ACA365612317LAMA2c.3479C>A (p.Pro1160Gln)
c.3743C>A (p.Pro1248Gln)
c.3749C>A (p.Pro1250Gln)
c.1874C>A (p.Pro625Gln)
6g.129314722C>GCA365612318LAMA2c.3479C>G (p.Pro1160Arg)
c.3743C>G (p.Pro1248Arg)
c.3749C>G (p.Pro1250Arg)
c.1874C>G (p.Pro625Arg)
6g.129314722C>TCA365612316LAMA2c.3479C>T (p.Pro1160Leu)
c.3743C>T (p.Pro1248Leu)
c.3749C>T (p.Pro1250Leu)
c.1874C>T (p.Pro625Leu)
6g.129314723A=CA1663078557LAMA2c.3480A= (p.Pro1160=)
c.3744A= (p.Pro1248=)
c.3750A= (p.Pro1250=)
c.1875A= (p.Pro625=)
6g.129314723A>CCA451936635LAMA2c.3480A>C (p.Pro1160=)
c.3744A>C (p.Pro1248=)
c.3750A>C (p.Pro1250=)
c.1875A>C (p.Pro625=)
6g.129314723A>GCA451936636LAMA2c.3480A>G (p.Pro1160=)
c.3744A>G (p.Pro1248=)
c.3750A>G (p.Pro1250=)
c.1875A>G (p.Pro625=)
 gnomAD v4
6g.129314723A>TCA451936637LAMA2c.3480A>T (p.Pro1160=)
c.3744A>T (p.Pro1248=)
c.3750A>T (p.Pro1250=)
c.1875A>T (p.Pro625=)
 ClinVar dbSNP gnomAD v4
6g.129314724C>ACA365612319LAMA2c.3481C>A (p.Leu1161Ile)
c.3745C>A (p.Leu1249Ile)
c.3751C>A (p.Leu1251Ile)
c.1876C>A (p.Leu626Ile)
6g.129314724C=CA1663078559LAMA2c.3481C= (p.Leu1161=)
c.3745C= (p.Leu1249=)
c.3751C= (p.Leu1251=)
c.1876C= (p.Leu626=)
6g.129314724C>GCA365612320LAMA2c.3481C>G (p.Leu1161Val)
c.3745C>G (p.Leu1249Val)
c.3751C>G (p.Leu1251Val)
c.1876C>G (p.Leu626Val)
6g.129314724C>TCA365612321LAMA2c.3481C>T (p.Leu1161Phe)
c.3745C>T (p.Leu1249Phe)
c.3751C>T (p.Leu1251Phe)
c.1876C>T (p.Leu626Phe)
 dbSNP gnomAD v3 gnomAD v4
6g.129314725T>ACA365612322LAMA2c.3482T>A (p.Leu1161His)
c.3746T>A (p.Leu1249His)
c.3752T>A (p.Leu1251His)
c.1877T>A (p.Leu626His)
6g.129314725T>CCA365612323LAMA2c.3482T>C (p.Leu1161Pro)
c.3746T>C (p.Leu1249Pro)
c.3752T>C (p.Leu1251Pro)
c.1877T>C (p.Leu626Pro)
6g.129314725T>GCA365612324LAMA2c.3482T>G (p.Leu1161Arg)
c.3746T>G (p.Leu1249Arg)
c.3752T>G (p.Leu1251Arg)
c.1877T>G (p.Leu626Arg)
6g.129314726T>ACA451936638LAMA2c.3483T>A (p.Leu1161=)
c.3747T>A (p.Leu1249=)
c.3753T>A (p.Leu1251=)
c.1878T>A (p.Leu626=)
6g.129314726T>CCA451936639LAMA2c.3483T>C (p.Leu1161=)
c.3747T>C (p.Leu1249=)
c.3753T>C (p.Leu1251=)
c.1878T>C (p.Leu626=)
6g.129314726T>GCA451936640LAMA2c.3483T>G (p.Leu1161=)
c.3747T>G (p.Leu1249=)
c.3753T>G (p.Leu1251=)
c.1878T>G (p.Leu626=)
 ClinVar gnomAD v4
6g.129314727G>ACA365612325LAMA2c.3484G>A (p.Gly1162Ser)
c.3748G>A (p.Gly1250Ser)
c.3754G>A (p.Gly1252Ser)
c.1879G>A (p.Gly627Ser)
 ClinVar dbSNP gnomAD v4
6g.129314727G>CCA365612326LAMA2c.3484G>C (p.Gly1162Arg)
c.3748G>C (p.Gly1250Arg)
c.3754G>C (p.Gly1252Arg)
c.1879G>C (p.Gly627Arg)
6g.129314727G=CA1663078563LAMA2c.3484G= (p.Gly1162=)
c.3748G= (p.Gly1250=)
c.3754G= (p.Gly1252=)
c.1879G= (p.Gly627=)
6g.129314727G>TCA365612327LAMA2c.3484G>T (p.Gly1162Cys)
c.3748G>T (p.Gly1250Cys)
c.3754G>T (p.Gly1252Cys)
c.1879G>T (p.Gly627Cys)
6g.129314728G>ACA365612328LAMA2c.3485G>A (p.Gly1162Asp)
c.3749G>A (p.Gly1250Asp)
c.3755G>A (p.Gly1252Asp)
c.1880G>A (p.Gly627Asp)
6g.129314728G>CCA365612329LAMA2c.3485G>C (p.Gly1162Ala)
c.3749G>C (p.Gly1250Ala)
c.3755G>C (p.Gly1252Ala)
c.1880G>C (p.Gly627Ala)
6g.129314728G>TCA365612330LAMA2c.3485G>T (p.Gly1162Val)
c.3749G>T (p.Gly1250Val)
c.3755G>T (p.Gly1252Val)
c.1880G>T (p.Gly627Val)
6g.129314729C>ACA451936641LAMA2c.3486C>A (p.Gly1162=)
c.3750C>A (p.Gly1250=)
c.3756C>A (p.Gly1252=)
c.1881C>A (p.Gly627=)
 gnomAD v4
6g.129314729C=CA1663078567LAMA2c.3486C= (p.Gly1162=)
c.3750C= (p.Gly1250=)
c.3756C= (p.Gly1252=)
c.1881C= (p.Gly627=)
6g.129314729C>GCA451936642LAMA2c.3486C>G (p.Gly1162=)
c.3750C>G (p.Gly1250=)
c.3756C>G (p.Gly1252=)
c.1881C>G (p.Gly627=)
6g.129314729C>TCA451936643LAMA2c.3486C>T (p.Gly1162=)
c.3750C>T (p.Gly1250=)
c.3756C>T (p.Gly1252=)
c.1881C>T (p.Gly627=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129314730T>ACA365612333LAMA2c.3487T>A (p.Cys1163Ser)
c.3751T>A (p.Cys1251Ser)
c.3757T>A (p.Cys1253Ser)
c.1882T>A (p.Cys628Ser)
6g.129314730T>CCA365612331LAMA2c.3487T>C (p.Cys1163Arg)
c.3751T>C (p.Cys1251Arg)
c.3757T>C (p.Cys1253Arg)
c.1882T>C (p.Cys628Arg)
 ClinVar dbSNP
6g.129314730T>GCA365612332LAMA2c.3487T>G (p.Cys1163Gly)
c.3751T>G (p.Cys1251Gly)
c.3757T>G (p.Cys1253Gly)
c.1882T>G (p.Cys628Gly)
6g.129314730T=CA1663078572LAMA2c.3487T= (p.Cys1163=)
c.3751T= (p.Cys1251=)
c.3757T= (p.Cys1253=)
c.1882T= (p.Cys628=)
6g.129314731G>ACA365612334LAMA2c.3488G>A (p.Cys1163Tyr)
c.3752G>A (p.Cys1251Tyr)
c.3758G>A (p.Cys1253Tyr)
c.1883G>A (p.Cys628Tyr)
6g.129314731G>CCA365612335LAMA2c.3488G>C (p.Cys1163Ser)
c.3752G>C (p.Cys1251Ser)
c.3758G>C (p.Cys1253Ser)
c.1883G>C (p.Cys628Ser)
 dbSNP
6g.129314731G=CA1663078576LAMA2c.3488G= (p.Cys1163=)
c.3752G= (p.Cys1251=)
c.3758G= (p.Cys1253=)
c.1883G= (p.Cys628=)
6g.129314731G>TCA365612336LAMA2c.3488G>T (p.Cys1163Phe)
c.3752G>T (p.Cys1251Phe)
c.3758G>T (p.Cys1253Phe)
c.1883G>T (p.Cys628Phe)
6g.129314732C>ACA365612337LAMA2c.3489C>A (p.Cys1163Ter)
c.3753C>A (p.Cys1251Ter)
c.3759C>A (p.Cys1253Ter)
c.1884C>A (p.Cys628Ter)
6g.129314732C>GCA365612338LAMA2c.3489C>G (p.Cys1163Trp)
c.3753C>G (p.Cys1251Trp)
c.3759C>G (p.Cys1253Trp)
c.1884C>G (p.Cys628Trp)
6g.129314732C>TCA451936644LAMA2c.3489C>T (p.Cys1163=)
c.3753C>T (p.Cys1251=)
c.3759C>T (p.Cys1253=)
c.1884C>T (p.Cys628=)
6g.129314733A=CA1663078581LAMA2c.3490A= (p.Ser1164=)
c.3754A= (p.Ser1252=)
c.3760A= (p.Ser1254=)
c.1885A= (p.Ser629=)
6g.129314733A>CCA365612339LAMA2c.3490A>C (p.Ser1164Arg)
c.3754A>C (p.Ser1252Arg)
c.3760A>C (p.Ser1254Arg)
c.1885A>C (p.Ser629Arg)
6g.129314733A>GCA3993272LAMA2c.3490A>G (p.Ser1164Gly)
c.3754A>G (p.Ser1252Gly)
c.3760A>G (p.Ser1254Gly)
c.1885A>G (p.Ser629Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129314733A>TCA365612340LAMA2c.3490A>T (p.Ser1164Cys)
c.3754A>T (p.Ser1252Cys)
c.3760A>T (p.Ser1254Cys)
c.1885A>T (p.Ser629Cys)
6g.129314734G>ACA365612341LAMA2c.3491G>A (p.Ser1164Asn)
c.3755G>A (p.Ser1252Asn)
c.3761G>A (p.Ser1254Asn)
c.1886G>A (p.Ser629Asn)
 gnomAD v4
6g.129314734G>CCA365612342LAMA2c.3491G>C (p.Ser1164Thr)
c.3755G>C (p.Ser1252Thr)
c.3761G>C (p.Ser1254Thr)
c.1886G>C (p.Ser629Thr)
6g.129314734G>TCA365612343LAMA2c.3491G>T (p.Ser1164Ile)
c.3755G>T (p.Ser1252Ile)
c.3761G>T (p.Ser1254Ile)
c.1886G>T (p.Ser629Ile)
6g.129314735C>ACA365612345LAMA2c.3492C>A (p.Ser1164Arg)
c.3756C>A (p.Ser1252Arg)
c.3762C>A (p.Ser1254Arg)
c.1887C>A (p.Ser629Arg)
6g.129314735C>GCA365612344LAMA2c.3492C>G (p.Ser1164Arg)
c.3756C>G (p.Ser1252Arg)
c.3762C>G (p.Ser1254Arg)
c.1887C>G (p.Ser629Arg)
6g.129314735C>TCA451936645LAMA2c.3492C>T (p.Ser1164=)
c.3756C>T (p.Ser1252=)
c.3762C>T (p.Ser1254=)
c.1887C>T (p.Ser629=)
 ClinVar
6g.129314736A=CA1663078585LAMA2c.3493A= (p.Ser1165=)
c.3757A= (p.Ser1253=)
c.3763A= (p.Ser1255=)
c.1888A= (p.Ser630=)
6g.129314736A>CCA365612346LAMA2c.3493A>C (p.Ser1165Arg)
c.3757A>C (p.Ser1253Arg)
c.3763A>C (p.Ser1255Arg)
c.1888A>C (p.Ser630Arg)
6g.129314736A>GCA365612348LAMA2c.3493A>G (p.Ser1165Gly)
c.3757A>G (p.Ser1253Gly)
c.3763A>G (p.Ser1255Gly)
c.1888A>G (p.Ser630Gly)
 dbSNP gnomAD v3 gnomAD v4
6g.129314736A>TCA365612347LAMA2c.3493A>T (p.Ser1165Cys)
c.3757A>T (p.Ser1253Cys)
c.3763A>T (p.Ser1255Cys)
c.1888A>T (p.Ser630Cys)
6g.129314737G>ACA365612349LAMA2c.3494G>A (p.Ser1165Asn)
c.3758G>A (p.Ser1253Asn)
c.3764G>A (p.Ser1255Asn)
c.1889G>A (p.Ser630Asn)
6g.129314737G>CCA365612350LAMA2c.3494G>C (p.Ser1165Thr)
c.3758G>C (p.Ser1253Thr)
c.3764G>C (p.Ser1255Thr)
c.1889G>C (p.Ser630Thr)
6g.129314737G>TCA365612351LAMA2c.3494G>T (p.Ser1165Ile)
c.3758G>T (p.Ser1253Ile)
c.3764G>T (p.Ser1255Ile)
c.1889G>T (p.Ser630Ile)
6g.129314738C>ACA365612352LAMA2c.3495C>A (p.Ser1165Arg)
c.3759C>A (p.Ser1253Arg)
c.3765C>A (p.Ser1255Arg)
c.1890C>A (p.Ser630Arg)
6g.129314738C=CA1663078588LAMA2c.3495C= (p.Ser1165=)
c.3759C= (p.Ser1253=)
c.3765C= (p.Ser1255=)
c.1890C= (p.Ser630=)
6g.129314738C>GCA365612353LAMA2c.3495C>G (p.Ser1165Arg)
c.3759C>G (p.Ser1253Arg)
c.3765C>G (p.Ser1255Arg)
c.1890C>G (p.Ser630Arg)
6g.129314738C>TCA451936646LAMA2c.3495C>T (p.Ser1165=)
c.3759C>T (p.Ser1253=)
c.3765C>T (p.Ser1255=)
c.1890C>T (p.Ser630=)
 dbSNP gnomAD v2 gnomAD v4
6g.129314739T>ACA365612354LAMA2c.3496T>A (p.Cys1166Ser)
c.3760T>A (p.Cys1254Ser)
c.3766T>A (p.Cys1256Ser)
c.1891T>A (p.Cys631Ser)
6g.129314739T>CCA365612355LAMA2c.3496T>C (p.Cys1166Arg)
c.3760T>C (p.Cys1254Arg)
c.3766T>C (p.Cys1256Arg)
c.1891T>C (p.Cys631Arg)
6g.129314739T>GCA365612356LAMA2c.3496T>G (p.Cys1166Gly)
c.3760T>G (p.Cys1254Gly)
c.3766T>G (p.Cys1256Gly)
c.1891T>G (p.Cys631Gly)
6g.129314740G>ACA365612357LAMA2c.3497G>A (p.Cys1166Tyr)
c.3761G>A (p.Cys1254Tyr)
c.3767G>A (p.Cys1256Tyr)
c.1892G>A (p.Cys631Tyr)
6g.129314740G>CCA365612358LAMA2c.3497G>C (p.Cys1166Ser)
c.3761G>C (p.Cys1254Ser)
c.3767G>C (p.Cys1256Ser)
c.1892G>C (p.Cys631Ser)
6g.129314740G>TCA365612359LAMA2c.3497G>T (p.Cys1166Phe)
c.3761G>T (p.Cys1254Phe)
c.3767G>T (p.Cys1256Phe)
c.1892G>T (p.Cys631Phe)
6g.129314741C>ACA365612360LAMA2c.3498C>A (p.Cys1166Ter)
c.3762C>A (p.Cys1254Ter)
c.3768C>A (p.Cys1256Ter)
c.1893C>A (p.Cys631Ter)
6g.129314741C>GCA365612361LAMA2c.3498C>G (p.Cys1166Trp)
c.3762C>G (p.Cys1254Trp)
c.3768C>G (p.Cys1256Trp)
c.1893C>G (p.Cys631Trp)
 gnomAD v4
6g.129314741C>TCA451936647LAMA2c.3498C>T (p.Cys1166=)
c.3762C>T (p.Cys1254=)
c.3768C>T (p.Cys1256=)
c.1893C>T (p.Cys631=)
6g.129314742T>ACA365612362LAMA2c.3499T>A (p.Tyr1167Asn)
c.3763T>A (p.Tyr1255Asn)
c.3769T>A (p.Tyr1257Asn)
c.1894T>A (p.Tyr632Asn)
6g.129314742T>CCA146913424LAMA2c.3499T>C (p.Tyr1167His)
c.3763T>C (p.Tyr1255His)
c.3769T>C (p.Tyr1257His)
c.1894T>C (p.Tyr632His)
 dbSNP gnomAD v3 gnomAD v4
6g.129314742T>GCA365612363LAMA2c.3499T>G (p.Tyr1167Asp)
c.3763T>G (p.Tyr1255Asp)
c.3769T>G (p.Tyr1257Asp)
c.1894T>G (p.Tyr632Asp)
6g.129314742T=CA1663078592LAMA2c.3499T= (p.Tyr1167=)
c.3763T= (p.Tyr1255=)
c.3769T= (p.Tyr1257=)
c.1894T= (p.Tyr632=)
6g.129314743A=CA1663078594LAMA2c.3500A= (p.Tyr1167=)
c.3764A= (p.Tyr1255=)
c.3770A= (p.Tyr1257=)
c.1895A= (p.Tyr632=)
6g.129314743A>CCA365612364LAMA2c.3500A>C (p.Tyr1167Ser)
c.3764A>C (p.Tyr1255Ser)
c.3770A>C (p.Tyr1257Ser)
c.1895A>C (p.Tyr632Ser)
6g.129314743A>GCA365612365LAMA2c.3500A>G (p.Tyr1167Cys)
c.3764A>G (p.Tyr1255Cys)
c.3770A>G (p.Tyr1257Cys)
c.1895A>G (p.Tyr632Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129314743A>TCA365612366LAMA2c.3500A>T (p.Tyr1167Phe)
c.3764A>T (p.Tyr1255Phe)
c.3770A>T (p.Tyr1257Phe)
c.1895A>T (p.Tyr632Phe)
6g.129314744T>ACA365612367LAMA2c.3501T>A (p.Tyr1167Ter)
c.3765T>A (p.Tyr1255Ter)
c.3771T>A (p.Tyr1257Ter)
c.1896T>A (p.Tyr632Ter)
6g.129314744T>CCA451936648LAMA2c.3501T>C (p.Tyr1167=)
c.3765T>C (p.Tyr1255=)
c.3771T>C (p.Tyr1257=)
c.1896T>C (p.Tyr632=)
6g.129314744T>GCA365612368LAMA2c.3501T>G (p.Tyr1167Ter)
c.3765T>G (p.Tyr1255Ter)
c.3771T>G (p.Tyr1257Ter)
c.1896T>G (p.Tyr632Ter)
6g.129314745T>ACA365612369LAMA2c.3502T>A (p.Cys1168Ser)
c.3766T>A (p.Cys1256Ser)
c.3772T>A (p.Cys1258Ser)
c.1897T>A (p.Cys633Ser)
6g.129314745T>CCA365612370LAMA2c.3502T>C (p.Cys1168Arg)
c.3766T>C (p.Cys1256Arg)
c.3772T>C (p.Cys1258Arg)
c.1897T>C (p.Cys633Arg)
6g.129314745T>GCA365612371LAMA2c.3502T>G (p.Cys1168Gly)
c.3766T>G (p.Cys1256Gly)
c.3772T>G (p.Cys1258Gly)
c.1897T>G (p.Cys633Gly)
6g.129314746G>ACA365612372LAMA2c.3503G>A (p.Cys1168Tyr)
c.3767G>A (p.Cys1256Tyr)
c.3773G>A (p.Cys1258Tyr)
c.1898G>A (p.Cys633Tyr)
 gnomAD v4
6g.129314746G>CCA365612373LAMA2c.3503G>C (p.Cys1168Ser)
c.3767G>C (p.Cys1256Ser)
c.3773G>C (p.Cys1258Ser)
c.1898G>C (p.Cys633Ser)
 gnomAD v4
6g.129314746G>TCA365612374LAMA2c.3503G>T (p.Cys1168Phe)
c.3767G>T (p.Cys1256Phe)
c.3773G>T (p.Cys1258Phe)
c.1898G>T (p.Cys633Phe)
6g.129314747C>ACA365612375LAMA2c.3504C>A (p.Cys1168Ter)
c.3768C>A (p.Cys1256Ter)
c.3774C>A (p.Cys1258Ter)
c.1899C>A (p.Cys633Ter)
6g.129314747C=CA1663078597LAMA2c.3504C= (p.Cys1168=)
c.3768C= (p.Cys1256=)
c.3774C= (p.Cys1258=)
c.1899C= (p.Cys633=)
6g.129314747C>GCA365612376LAMA2c.3504C>G (p.Cys1168Trp)
c.3768C>G (p.Cys1256Trp)
c.3774C>G (p.Cys1258Trp)
c.1899C>G (p.Cys633Trp)
 gnomAD v4
6g.129314747C>TCA451936649LAMA2c.3504C>T (p.Cys1168=)
c.3768C>T (p.Cys1256=)
c.3774C>T (p.Cys1258=)
c.1899C>T (p.Cys633=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.129314748T>ACA365612377LAMA2c.3505T>A (p.Phe1169Ile)
c.3769T>A (p.Phe1257Ile)
c.3775T>A (p.Phe1259Ile)
c.1900T>A (p.Phe634Ile)
6g.129314748T>CCA365612378LAMA2c.3505T>C (p.Phe1169Leu)
c.3769T>C (p.Phe1257Leu)
c.3775T>C (p.Phe1259Leu)
c.1900T>C (p.Phe634Leu)
6g.129314748T>GCA365612379LAMA2c.3505T>G (p.Phe1169Val)
c.3769T>G (p.Phe1257Val)
c.3775T>G (p.Phe1259Val)
c.1900T>G (p.Phe634Val)
6g.129314749T>ACA365612380LAMA2c.3506T>A (p.Phe1169Tyr)
c.3770T>A (p.Phe1257Tyr)
c.3776T>A (p.Phe1259Tyr)
c.1901T>A (p.Phe634Tyr)
6g.129314749T>CCA365612381LAMA2c.3506T>C (p.Phe1169Ser)
c.3770T>C (p.Phe1257Ser)
c.3776T>C (p.Phe1259Ser)
c.1901T>C (p.Phe634Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129314749T>GCA365612382LAMA2c.3506T>G (p.Phe1169Cys)
c.3770T>G (p.Phe1257Cys)
c.3776T>G (p.Phe1259Cys)
c.1901T>G (p.Phe634Cys)
6g.129314749T=CA1663078601LAMA2c.3506T= (p.Phe1169=)
c.3770T= (p.Phe1257=)
c.3776T= (p.Phe1259=)
c.1901T= (p.Phe634=)
6g.129314750C>ACA365612383LAMA2c.3507C>A (p.Phe1169Leu)
c.3771C>A (p.Phe1257Leu)
c.3777C>A (p.Phe1259Leu)
c.1902C>A (p.Phe634Leu)
6g.129314750C=CA1663078602LAMA2c.3507C= (p.Phe1169=)
c.3771C= (p.Phe1257=)
c.3777C= (p.Phe1259=)
c.1902C= (p.Phe634=)
6g.129314750C>GCA365612384LAMA2c.3507C>G (p.Phe1169Leu)
c.3771C>G (p.Phe1257Leu)
c.3777C>G (p.Phe1259Leu)
c.1902C>G (p.Phe634Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129314750C>TCA3993273LAMA2c.3507C>T (p.Phe1169=)
c.3771C>T (p.Phe1257=)
c.3777C>T (p.Phe1259=)
c.1902C>T (p.Phe634=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129314751G>ACA3993274LAMA2c.3508G>A (p.Gly1170Ser)
c.3772G>A (p.Gly1258Ser)
c.3778G>A (p.Gly1260Ser)
c.1903G>A (p.Gly635Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129314751G>CCA365612385LAMA2c.3508G>C (p.Gly1170Arg)
c.3772G>C (p.Gly1258Arg)
c.3778G>C (p.Gly1260Arg)
c.1903G>C (p.Gly635Arg)
6g.129314751G=CA1663078605LAMA2c.3508G= (p.Gly1170=)
c.3772G= (p.Gly1258=)
c.3778G= (p.Gly1260=)
c.1903G= (p.Gly635=)
6g.129314751G>TCA365612386LAMA2c.3508G>T (p.Gly1170Cys)
c.3772G>T (p.Gly1258Cys)
c.3778G>T (p.Gly1260Cys)
c.1903G>T (p.Gly635Cys)
6g.129314752G>ACA365612388LAMA2c.3509G>A (p.Gly1170Asp)
c.3773G>A (p.Gly1258Asp)
c.3779G>A (p.Gly1260Asp)
c.1904G>A (p.Gly635Asp)
6g.129314752G>CCA365612389LAMA2c.3509G>C (p.Gly1170Ala)
c.3773G>C (p.Gly1258Ala)
c.3779G>C (p.Gly1260Ala)
c.1904G>C (p.Gly635Ala)
6g.129314752G>TCA365612387LAMA2c.3509G>T (p.Gly1170Val)
c.3773G>T (p.Gly1258Val)
c.3779G>T (p.Gly1260Val)
c.1904G>T (p.Gly635Val)
6g.129314753C>ACA451936650LAMA2c.3510C>A (p.Gly1170=)
c.3774C>A (p.Gly1258=)
c.3780C>A (p.Gly1260=)
c.1905C>A (p.Gly635=)
6g.129314753C>GCA451936651LAMA2c.3510C>G (p.Gly1170=)
c.3774C>G (p.Gly1258=)
c.3780C>G (p.Gly1260=)
c.1905C>G (p.Gly635=)
6g.129314753C>TCA451936652LAMA2c.3510C>T (p.Gly1170=)
c.3774C>T (p.Gly1258=)
c.3780C>T (p.Gly1260=)
c.1905C>T (p.Gly635=)
 gnomAD v4
6g.129314754_129314755delCA2506539554LAMA2c.3511_3512del (p.Thr1171TyrfsTer6)
c.3775_3776del (p.Thr1259TyrfsTer6)
c.3781_3782del (p.Thr1261TyrfsTer6)
c.1906_1907del (p.Thr636TyrfsTer6)
6g.129314754A=CA1663078612LAMA2c.3511A= (p.Thr1171=)
c.3775A= (p.Thr1259=)
c.3781A= (p.Thr1261=)
c.1906A= (p.Thr636=)
6g.129314754A>CCA365612390LAMA2c.3511A>C (p.Thr1171Pro)
c.3775A>C (p.Thr1259Pro)
c.3781A>C (p.Thr1261Pro)
c.1906A>C (p.Thr636Pro)
6g.129314754A>GCA365612391LAMA2c.3511A>G (p.Thr1171Ala)
c.3775A>G (p.Thr1259Ala)
c.3781A>G (p.Thr1261Ala)
c.1906A>G (p.Thr636Ala)
6g.129314754A>TCA365612392LAMA2c.3511A>T (p.Thr1171Ser)
c.3775A>T (p.Thr1259Ser)
c.3781A>T (p.Thr1261Ser)
c.1906A>T (p.Thr636Ser)
 dbSNP
6g.129314755C>ACA365612393LAMA2c.3512C>A (p.Thr1171Asn)
c.3776C>A (p.Thr1259Asn)
c.3782C>A (p.Thr1261Asn)
c.1907C>A (p.Thr636Asn)
6g.129314755C>GCA365612394LAMA2c.3512C>G (p.Thr1171Ser)
c.3776C>G (p.Thr1259Ser)
c.3782C>G (p.Thr1261Ser)
c.1907C>G (p.Thr636Ser)
6g.129314755C>TCA365612396LAMA2c.3512C>T (p.Thr1171Ile)
c.3776C>T (p.Thr1259Ile)
c.3782C>T (p.Thr1261Ile)
c.1907C>T (p.Thr636Ile)
 gnomAD v4
6g.129314756T>ACA451936653LAMA2c.3513T>A (p.Thr1171=)
c.3777T>A (p.Thr1259=)
c.3783T>A (p.Thr1261=)
c.1908T>A (p.Thr636=)
6g.129314756T>CCA3993275LAMA2c.3513T>C (p.Thr1171=)
c.3777T>C (p.Thr1259=)
c.3783T>C (p.Thr1261=)
c.1908T>C (p.Thr636=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129314756T>GCA451936654LAMA2c.3513T>G (p.Thr1171=)
c.3777T>G (p.Thr1259=)
c.3783T>G (p.Thr1261=)
c.1908T>G (p.Thr636=)
 ClinVar dbSNP
6g.129314756T=CA1663078617LAMA2c.3513T= (p.Thr1171=)
c.3777T= (p.Thr1259=)
c.3783T= (p.Thr1261=)
c.1908T= (p.Thr636=)
6g.129314756_129314757insTGCA2524124222LAMA2c.3513_3514insTG (p.Thr1172Ter)
c.3777_3778insTG (p.Thr1260Ter)
c.3783_3784insTG (p.Thr1262Ter)
c.1908_1909insTG (p.Thr637Ter)
6g.129314757A=CA1663078623LAMA2c.3514A= (p.Thr1172=)
c.3778A= (p.Thr1260=)
c.3784A= (p.Thr1262=)
c.1909A= (p.Thr637=)
6g.129314757A>CCA365612398LAMA2c.3514A>C (p.Thr1172Pro)
c.3778A>C (p.Thr1260Pro)
c.3784A>C (p.Thr1262Pro)
c.1909A>C (p.Thr637Pro)
6g.129314757A>GCA365612399LAMA2c.3514A>G (p.Thr1172Ala)
c.3778A>G (p.Thr1260Ala)
c.3784A>G (p.Thr1262Ala)
c.1909A>G (p.Thr637Ala)
 dbSNP gnomAD v2 gnomAD v4
6g.129314757A>TCA365612401LAMA2c.3514A>T (p.Thr1172Ser)
c.3778A>T (p.Thr1260Ser)
c.3784A>T (p.Thr1262Ser)
c.1909A>T (p.Thr637Ser)
6g.129314758C>ACA365612402LAMA2c.3515C>A (p.Thr1172Asn)
c.3779C>A (p.Thr1260Asn)
c.3785C>A (p.Thr1262Asn)
c.1910C>A (p.Thr637Asn)
6g.129314758C>GCA365612403LAMA2c.3515C>G (p.Thr1172Ser)
c.3779C>G (p.Thr1260Ser)
c.3785C>G (p.Thr1262Ser)
c.1910C>G (p.Thr637Ser)
6g.129314758C>TCA365612405LAMA2c.3515C>T (p.Thr1172Ile)
c.3779C>T (p.Thr1260Ile)
c.3785C>T (p.Thr1262Ile)
c.1910C>T (p.Thr637Ile)
6g.129314759T>ACA451936655LAMA2c.3516T>A (p.Thr1172=)
c.3780T>A (p.Thr1260=)
c.3786T>A (p.Thr1262=)
c.1911T>A (p.Thr637=)
6g.129314759T>CCA451936656LAMA2c.3516T>C (p.Thr1172=)
c.3780T>C (p.Thr1260=)
c.3786T>C (p.Thr1262=)
c.1911T>C (p.Thr637=)
 gnomAD v4
6g.129314759T>GCA451936657LAMA2c.3516T>G (p.Thr1172=)
c.3780T>G (p.Thr1260=)
c.3786T>G (p.Thr1262=)
c.1911T>G (p.Thr637=)
 ClinVar dbSNP gnomAD v4
6g.129314759T=CA1663078626LAMA2c.3516T= (p.Thr1172=)
c.3780T= (p.Thr1260=)
c.3786T= (p.Thr1262=)
c.1911T= (p.Thr637=)
6g.129314760A=CA1663078630LAMA2c.3517A= (p.Thr1173=)
c.3781A= (p.Thr1261=)
c.3787A= (p.Thr1263=)
c.1912A= (p.Thr638=)
6g.129314760A>CCA365612410LAMA2c.3517A>C (p.Thr1173Pro)
c.3781A>C (p.Thr1261Pro)
c.3787A>C (p.Thr1263Pro)
c.1912A>C (p.Thr638Pro)
 dbSNP gnomAD v2 gnomAD v4
6g.129314760A>GCA365612408LAMA2c.3517A>G (p.Thr1173Ala)
c.3781A>G (p.Thr1261Ala)
c.3787A>G (p.Thr1263Ala)
c.1912A>G (p.Thr638Ala)
 dbSNP gnomAD v2
6g.129314760A>TCA365612406LAMA2c.3517A>T (p.Thr1173Ser)
c.3781A>T (p.Thr1261Ser)
c.3787A>T (p.Thr1263Ser)
c.1912A>T (p.Thr638Ser)
6g.129314761C>ACA365612412LAMA2c.3518C>A (p.Thr1173Asn)
c.3782C>A (p.Thr1261Asn)
c.3788C>A (p.Thr1263Asn)
c.1913C>A (p.Thr638Asn)
6g.129314761C>GCA365612415LAMA2c.3518C>G (p.Thr1173Ser)
c.3782C>G (p.Thr1261Ser)
c.3788C>G (p.Thr1263Ser)
c.1913C>G (p.Thr638Ser)
6g.129314761C>TCA365612413LAMA2c.3518C>T (p.Thr1173Ile)
c.3782C>T (p.Thr1261Ile)
c.3788C>T (p.Thr1263Ile)
c.1913C>T (p.Thr638Ile)
6g.129314762C>ACA451936658LAMA2c.3519C>A (p.Thr1173=)
c.3783C>A (p.Thr1261=)
c.3789C>A (p.Thr1263=)
c.1914C>A (p.Thr638=)
6g.129314762C=CA1663078635LAMA2c.3519C= (p.Thr1173=)
c.3783C= (p.Thr1261=)
c.3789C= (p.Thr1263=)
c.1914C= (p.Thr638=)
6g.129314762C>GCA451936659LAMA2c.3519C>G (p.Thr1173=)
c.3783C>G (p.Thr1261=)
c.3789C>G (p.Thr1263=)
c.1914C>G (p.Thr638=)
 gnomAD v4
6g.129314762C>TCA146913443LAMA2c.3519C>T (p.Thr1173=)
c.3783C>T (p.Thr1261=)
c.3789C>T (p.Thr1263=)
c.1914C>T (p.Thr638=)
 ClinVar dbSNP gnomAD v4
6g.129314763C>ACA365612418LAMA2c.3520C>A (p.Gln1174Lys)
c.3784C>A (p.Gln1262Lys)
c.3790C>A (p.Gln1264Lys)
c.1915C>A (p.Gln639Lys)
6g.129314763C=CA1663078639LAMA2c.3520C= (p.Gln1174=)
c.3784C= (p.Gln1262=)
c.3790C= (p.Gln1264=)
c.1915C= (p.Gln639=)
6g.129314763C>GCA365612416LAMA2c.3520C>G (p.Gln1174Glu)
c.3784C>G (p.Gln1262Glu)
c.3790C>G (p.Gln1264Glu)
c.1915C>G (p.Gln639Glu)
6g.129314763C>TCA365612419LAMA2c.3520C>T (p.Gln1174Ter)
c.3784C>T (p.Gln1262Ter)
c.3790C>T (p.Gln1264Ter)
c.1915C>T (p.Gln639Ter)
 dbSNP
6g.129314764A>CCA365612421LAMA2c.3521A>C (p.Gln1174Pro)
c.3785A>C (p.Gln1262Pro)
c.3791A>C (p.Gln1264Pro)
c.1916A>C (p.Gln639Pro)
6g.129314764A>GCA365612423LAMA2c.3521A>G (p.Gln1174Arg)
c.3785A>G (p.Gln1262Arg)
c.3791A>G (p.Gln1264Arg)
c.1916A>G (p.Gln639Arg)
6g.129314764A>TCA365612422LAMA2c.3521A>T (p.Gln1174Leu)
c.3785A>T (p.Gln1262Leu)
c.3791A>T (p.Gln1264Leu)
c.1916A>T (p.Gln639Leu)
6g.129314765G>ACA3993276LAMA2c.3522G>A (p.Gln1174=)
c.3786G>A (p.Gln1262=)
c.3792G>A (p.Gln1264=)
c.1917G>A (p.Gln639=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129314765G>CCA365612426LAMA2c.3522G>C (p.Gln1174His)
c.3786G>C (p.Gln1262His)
c.3792G>C (p.Gln1264His)
c.1917G>C (p.Gln639His)
6g.129314765G=CA1663078644LAMA2c.3522G= (p.Gln1174=)
c.3786G= (p.Gln1262=)
c.3792G= (p.Gln1264=)
c.1917G= (p.Gln639=)
6g.129314765G>TCA365612427LAMA2c.3522G>T (p.Gln1174His)
c.3786G>T (p.Gln1262His)
c.3792G>T (p.Gln1264His)
c.1917G>T (p.Gln639His)
6g.129314766T>ACA365612429LAMA2c.3523T>A (p.Cys1175Ser)
c.3787T>A (p.Cys1263Ser)
c.3793T>A (p.Cys1265Ser)
c.1918T>A (p.Cys640Ser)
6g.129314766T>CCA365612430LAMA2c.3523T>C (p.Cys1175Arg)
c.3787T>C (p.Cys1263Arg)
c.3793T>C (p.Cys1265Arg)
c.1918T>C (p.Cys640Arg)
6g.129314766T>GCA365612431LAMA2c.3523T>G (p.Cys1175Gly)
c.3787T>G (p.Cys1263Gly)
c.3793T>G (p.Cys1265Gly)
c.1918T>G (p.Cys640Gly)
6g.129314767G>ACA365612432LAMA2c.3524G>A (p.Cys1175Tyr)
c.3788G>A (p.Cys1263Tyr)
c.3794G>A (p.Cys1265Tyr)
c.1919G>A (p.Cys640Tyr)
 gnomAD v4
6g.129314767G>CCA365612434LAMA2c.3524G>C (p.Cys1175Ser)
c.3788G>C (p.Cys1263Ser)
c.3794G>C (p.Cys1265Ser)
c.1919G>C (p.Cys640Ser)
6g.129314767G>TCA365612436LAMA2c.3524G>T (p.Cys1175Phe)
c.3788G>T (p.Cys1263Phe)
c.3794G>T (p.Cys1265Phe)
c.1919G>T (p.Cys640Phe)
6g.129314768C>ACA365612437LAMA2c.3525C>A (p.Cys1175Ter)
c.3789C>A (p.Cys1263Ter)
c.3795C>A (p.Cys1265Ter)
c.1920C>A (p.Cys640Ter)
6g.129314768C=CA1663078647LAMA2c.3525C= (p.Cys1175=)
c.3789C= (p.Cys1263=)
c.3795C= (p.Cys1265=)
c.1920C= (p.Cys640=)
6g.129314768C>GCA365612439LAMA2c.3525C>G (p.Cys1175Trp)
c.3789C>G (p.Cys1263Trp)
c.3795C>G (p.Cys1265Trp)
c.1920C>G (p.Cys640Trp)
6g.129314768C>TCA451936660LAMA2c.3525C>T (p.Cys1175=)
c.3789C>T (p.Cys1263=)
c.3795C>T (p.Cys1265=)
c.1920C>T (p.Cys640=)
 ClinVar dbSNP gnomAD v4
6g.129314769T>ACA365612443LAMA2c.3526T>A (p.Ser1176Thr)
c.3790T>A (p.Ser1264Thr)
c.3796T>A (p.Ser1266Thr)
c.1921T>A (p.Ser641Thr)
6g.129314769T>CCA365612442LAMA2c.3526T>C (p.Ser1176Pro)
c.3790T>C (p.Ser1264Pro)
c.3796T>C (p.Ser1266Pro)
c.1921T>C (p.Ser641Pro)
 gnomAD v4
6g.129314769T>GCA365612440LAMA2c.3526T>G (p.Ser1176Ala)
c.3790T>G (p.Ser1264Ala)
c.3796T>G (p.Ser1266Ala)
c.1921T>G (p.Ser641Ala)
6g.129314770C>ACA365612445LAMA2c.3527C>A (p.Ser1176Tyr)
c.3791C>A (p.Ser1264Tyr)
c.3797C>A (p.Ser1266Tyr)
c.1922C>A (p.Ser641Tyr)
6g.129314770C=CA1663078649LAMA2c.3527C= (p.Ser1176=)
c.3791C= (p.Ser1264=)
c.3797C= (p.Ser1266=)
c.1922C= (p.Ser641=)
6g.129314770C>GCA365612447LAMA2c.3527C>G (p.Ser1176Cys)
c.3791C>G (p.Ser1264Cys)
c.3797C>G (p.Ser1266Cys)
c.1922C>G (p.Ser641Cys)
 ClinVar dbSNP gnomAD v4
6g.129314770C>TCA365612448LAMA2c.3527C>T (p.Ser1176Phe)
c.3791C>T (p.Ser1264Phe)
c.3797C>T (p.Ser1266Phe)
c.1922C>T (p.Ser641Phe)
6g.129314771T>ACA451936661LAMA2c.3528T>A (p.Ser1176=)
c.3792T>A (p.Ser1264=)
c.3798T>A (p.Ser1266=)
c.1923T>A (p.Ser641=)
6g.129314771T>CCA451936662LAMA2c.3528T>C (p.Ser1176=)
c.3792T>C (p.Ser1264=)
c.3798T>C (p.Ser1266=)
c.1923T>C (p.Ser641=)
 ClinVar dbSNP gnomAD v4
6g.129314771T>GCA451936663LAMA2c.3528T>G (p.Ser1176=)
c.3792T>G (p.Ser1264=)
c.3798T>G (p.Ser1266=)
c.1923T>G (p.Ser641=)
 ClinVar dbSNP
6g.129314771T=CA1663078654LAMA2c.3528T= (p.Ser1176=)
c.3792T= (p.Ser1264=)
c.3798T= (p.Ser1266=)
c.1923T= (p.Ser641=)
6g.129314772G>ACA365612449LAMA2c.3529G>A (p.Glu1177Lys)
c.3793G>A (p.Glu1265Lys)
c.3799G>A (p.Glu1267Lys)
c.1924G>A (p.Glu642Lys)
 gnomAD v4
6g.129314772G>CCA365612451LAMA2c.3529G>C (p.Glu1177Gln)
c.3793G>C (p.Glu1265Gln)
c.3799G>C (p.Glu1267Gln)
c.1924G>C (p.Glu642Gln)
 ClinVar dbSNP gnomAD v4
6g.129314772G=CA1663078661LAMA2c.3529G= (p.Glu1177=)
c.3793G= (p.Glu1265=)
c.3799G= (p.Glu1267=)
c.1924G= (p.Glu642=)
6g.129314772G>TCA365612453LAMA2c.3529G>T (p.Glu1177Ter)
c.3793G>T (p.Glu1265Ter)
c.3799G>T (p.Glu1267Ter)
c.1924G>T (p.Glu642Ter)
6g.129314773A=CA1663078663LAMA2c.3530A= (p.Glu1177=)
c.3794A= (p.Glu1265=)
c.3800A= (p.Glu1267=)
c.1925A= (p.Glu642=)
6g.129314773A>CCA365612454LAMA2c.3530A>C (p.Glu1177Ala)
c.3794A>C (p.Glu1265Ala)
c.3800A>C (p.Glu1267Ala)
c.1925A>C (p.Glu642Ala)
6g.129314773A>GCA365612456LAMA2c.3530A>G (p.Glu1177Gly)
c.3794A>G (p.Glu1265Gly)
c.3800A>G (p.Glu1267Gly)
c.1925A>G (p.Glu642Gly)
6g.129314773A>TCA365612457LAMA2c.3530A>T (p.Glu1177Val)
c.3794A>T (p.Glu1265Val)
c.3800A>T (p.Glu1267Val)
c.1925A>T (p.Glu642Val)
 dbSNP gnomAD v2 gnomAD v4
6g.129314774A=CA1663078666LAMA2c.3531A= (p.Glu1177=)
c.3795A= (p.Glu1265=)
c.3801A= (p.Glu1267=)
c.1926A= (p.Glu642=)
6g.129314774A>CCA365612459LAMA2c.3531A>C (p.Glu1177Asp)
c.3795A>C (p.Glu1265Asp)
c.3801A>C (p.Glu1267Asp)
c.1926A>C (p.Glu642Asp)
6g.129314774A>GCA451936664LAMA2c.3531A>G (p.Glu1177=)
c.3795A>G (p.Glu1265=)
c.3801A>G (p.Glu1267=)
c.1926A>G (p.Glu642=)
 dbSNP
6g.129314774A>TCA365612460LAMA2c.3531A>T (p.Glu1177Asp)
c.3795A>T (p.Glu1265Asp)
c.3801A>T (p.Glu1267Asp)
c.1926A>T (p.Glu642Asp)
6g.129314775G>ACA295392LAMA2c.3532G>A (p.Ala1178Thr)
c.3796G>A (p.Ala1266Thr)
c.3802G>A (p.Ala1268Thr)
c.1927G>A (p.Ala643Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129314775G>CCA365612464LAMA2c.3532G>C (p.Ala1178Pro)
c.3796G>C (p.Ala1266Pro)
c.3802G>C (p.Ala1268Pro)
c.1927G>C (p.Ala643Pro)
 gnomAD v4
6g.129314775G=CA1663078672LAMA2c.3532G= (p.Ala1178=)
c.3796G= (p.Ala1266=)
c.3802G= (p.Ala1268=)
c.1927G= (p.Ala643=)
6g.129314775G>TCA365612462LAMA2c.3532G>T (p.Ala1178Ser)
c.3796G>T (p.Ala1266Ser)
c.3802G>T (p.Ala1268Ser)
c.1927G>T (p.Ala643Ser)
6g.129314776C>ACA3993277LAMA2c.3533C>A (p.Ala1178Glu)
c.3797C>A (p.Ala1266Glu)
c.3803C>A (p.Ala1268Glu)
c.1928C>A (p.Ala643Glu)
 dbSNP ExAC gnomAD v2
6g.129314776C=CA1663078675LAMA2c.3533C= (p.Ala1178=)
c.3797C= (p.Ala1266=)
c.3803C= (p.Ala1268=)
c.1928C= (p.Ala643=)
6g.129314776C>GCA365612467LAMA2c.3533C>G (p.Ala1178Gly)
c.3797C>G (p.Ala1266Gly)
c.3803C>G (p.Ala1268Gly)
c.1928C>G (p.Ala643Gly)
6g.129314776C>TCA365612468LAMA2c.3533C>T (p.Ala1178Val)
c.3797C>T (p.Ala1266Val)
c.3803C>T (p.Ala1268Val)
c.1928C>T (p.Ala643Val)
 ClinVar
6g.129314777A>CCA451936665LAMA2c.3534A>C (p.Ala1178=)
c.3798A>C (p.Ala1266=)
c.3804A>C (p.Ala1268=)
c.1929A>C (p.Ala643=)
6g.129314777A>GCA451936666LAMA2c.3534A>G (p.Ala1178=)
c.3798A>G (p.Ala1266=)
c.3804A>G (p.Ala1268=)
c.1929A>G (p.Ala643=)
 gnomAD v4
6g.129314777A>TCA451936667LAMA2c.3534A>T (p.Ala1178=)
c.3798A>T (p.Ala1266=)
c.3804A>T (p.Ala1268=)
c.1929A>T (p.Ala643=)
6g.129314778A>CCA365612470LAMA2c.3535A>C (p.Lys1179Gln)
c.3799A>C (p.Lys1267Gln)
c.3805A>C (p.Lys1269Gln)
c.1930A>C (p.Lys644Gln)
6g.129314778A>GCA365612471LAMA2c.3535A>G (p.Lys1179Glu)
c.3799A>G (p.Lys1267Glu)
c.3805A>G (p.Lys1269Glu)
c.1930A>G (p.Lys644Glu)
6g.129314778A>TCA365612473LAMA2c.3535A>T (p.Lys1179Ter)
c.3799A>T (p.Lys1267Ter)
c.3805A>T (p.Lys1269Ter)
c.1930A>T (p.Lys644Ter)
6g.129314779A=CA1663078678LAMA2c.3536A= (p.Lys1179=)
c.3800A= (p.Lys1267=)
c.3806A= (p.Lys1269=)
c.1931A= (p.Lys644=)
6g.129314779A>CCA365612477LAMA2c.3536A>C (p.Lys1179Thr)
c.3800A>C (p.Lys1267Thr)
c.3806A>C (p.Lys1269Thr)
c.1931A>C (p.Lys644Thr)
6g.129314779A>GCA365612475LAMA2c.3536A>G (p.Lys1179Arg)
c.3800A>G (p.Lys1267Arg)
c.3806A>G (p.Lys1269Arg)
c.1931A>G (p.Lys644Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.129314779A>TCA365612476LAMA2c.3536A>T (p.Lys1179Ile)
c.3800A>T (p.Lys1267Ile)
c.3806A>T (p.Lys1269Ile)
c.1931A>T (p.Lys644Ile)
6g.129314780A>CCA365612479LAMA2c.3537A>C (p.Lys1179Asn)
c.3801A>C (p.Lys1267Asn)
c.3807A>C (p.Lys1269Asn)
c.1932A>C (p.Lys644Asn)
6g.129314780A>GCA451936668LAMA2c.3537A>G (p.Lys1179=)
c.3801A>G (p.Lys1267=)
c.3807A>G (p.Lys1269=)
c.1932A>G (p.Lys644=)
6g.129314780A>TCA365612481LAMA2c.3537A>T (p.Lys1179Asn)
c.3801A>T (p.Lys1267Asn)
c.3807A>T (p.Lys1269Asn)
c.1932A>T (p.Lys644Asn)
6g.129314781G>ACA3993278LAMA2c.3538G>A (p.Gly1180Arg)
c.3802G>A (p.Gly1268Arg)
c.3808G>A (p.Gly1270Arg)
c.1933G>A (p.Gly645Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129314781G>CCA365612483LAMA2c.3538G>C (p.Gly1180Arg)
c.3802G>C (p.Gly1268Arg)
c.3808G>C (p.Gly1270Arg)
c.1933G>C (p.Gly645Arg)
6g.129314781G=CA1663078681LAMA2c.3538G= (p.Gly1180=)
c.3802G= (p.Gly1268=)
c.3808G= (p.Gly1270=)
c.1933G= (p.Gly645=)
6g.129314781G>TCA365612484LAMA2c.3538G>T (p.Gly1180Ter)
c.3802G>T (p.Gly1268Ter)
c.3808G>T (p.Gly1270Ter)
c.1933G>T (p.Gly645Ter)
6g.129314782G>ACA365612486LAMA2c.3539G>A (p.Gly1180Glu)
c.3803G>A (p.Gly1268Glu)
c.3809G>A (p.Gly1270Glu)
c.1934G>A (p.Gly645Glu)
6g.129314782G>CCA3993279LAMA2c.3539G>C (p.Gly1180Ala)
c.3803G>C (p.Gly1268Ala)
c.3809G>C (p.Gly1270Ala)
c.1934G>C (p.Gly645Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129314782G=CA1663078686LAMA2c.3539G= (p.Gly1180=)
c.3803G= (p.Gly1268=)
c.3809G= (p.Gly1270=)
c.1934G= (p.Gly645=)
6g.129314782G>TCA3993280LAMA2c.3539G>T (p.Gly1180Val)
c.3803G>T (p.Gly1268Val)
c.3809G>T (p.Gly1270Val)
c.1934G>T (p.Gly645Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129314783A>CCA451936669LAMA2c.3540A>C (p.Gly1180=)
c.3804A>C (p.Gly1268=)
c.3810A>C (p.Gly1270=)
c.1935A>C (p.Gly645=)
6g.129314783A>GCA451936670LAMA2c.3540A>G (p.Gly1180=)
c.3804A>G (p.Gly1268=)
c.3810A>G (p.Gly1270=)
c.1935A>G (p.Gly645=)
6g.129314783A>TCA451936671LAMA2c.3540A>T (p.Gly1180=)
c.3804A>T (p.Gly1268=)
c.3810A>T (p.Gly1270=)
c.1935A>T (p.Gly645=)
6g.129314784C>ACA365612489LAMA2c.3541C>A (p.Leu1181Met)
c.3805C>A (p.Leu1269Met)
c.3811C>A (p.Leu1271Met)
c.1936C>A (p.Leu646Met)
6g.129314784C>GCA365612490LAMA2c.3541C>G (p.Leu1181Val)
c.3805C>G (p.Leu1269Val)
c.3811C>G (p.Leu1271Val)
c.1936C>G (p.Leu646Val)
6g.129314784C>TCA451936672LAMA2c.3541C>T (p.Leu1181=)
c.3805C>T (p.Leu1269=)
c.3811C>T (p.Leu1271=)
c.1936C>T (p.Leu646=)
6g.129314785T>ACA365612492LAMA2c.3542T>A (p.Leu1181Gln)
c.3806T>A (p.Leu1269Gln)
c.3812T>A (p.Leu1271Gln)
c.1937T>A (p.Leu646Gln)
6g.129314785T>CCA365612493LAMA2c.3542T>C (p.Leu1181Pro)
c.3806T>C (p.Leu1269Pro)
c.3812T>C (p.Leu1271Pro)
c.1937T>C (p.Leu646Pro)
6g.129314785T>GCA365612494LAMA2c.3542T>G (p.Leu1181Arg)
c.3806T>G (p.Leu1269Arg)
c.3812T>G (p.Leu1271Arg)
c.1937T>G (p.Leu646Arg)
6g.129314786G>ACA451936673LAMA2c.3543G>A (p.Leu1181=)
c.3807G>A (p.Leu1269=)
c.3813G>A (p.Leu1271=)
c.1938G>A (p.Leu646=)
6g.129314786G>CCA451936674LAMA2c.3543G>C (p.Leu1181=)
c.3807G>C (p.Leu1269=)
c.3813G>C (p.Leu1271=)
c.1938G>C (p.Leu646=)
6g.129314786G>TCA451936675LAMA2c.3543G>T (p.Leu1181=)
c.3807G>T (p.Leu1269=)
c.3813G>T (p.Leu1271=)
c.1938G>T (p.Leu646=)
6g.129314787A>CCA365612496LAMA2c.3544A>C (p.Ile1182Leu)
c.3808A>C (p.Ile1270Leu)
c.3814A>C (p.Ile1272Leu)
c.1939A>C (p.Ile647Leu)
6g.129314787A>GCA365612498LAMA2c.3544A>G (p.Ile1182Val)
c.3808A>G (p.Ile1270Val)
c.3814A>G (p.Ile1272Val)
c.1939A>G (p.Ile647Val)
6g.129314787A>TCA365612499LAMA2c.3544A>T (p.Ile1182Phe)
c.3808A>T (p.Ile1270Phe)
c.3814A>T (p.Ile1272Phe)
c.1939A>T (p.Ile647Phe)
6g.129314788T>ACA365612501LAMA2c.3545T>A (p.Ile1182Asn)
c.3809T>A (p.Ile1270Asn)
c.3815T>A (p.Ile1272Asn)
c.1940T>A (p.Ile647Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129314788T>CCA365612502LAMA2c.3545T>C (p.Ile1182Thr)
c.3809T>C (p.Ile1270Thr)
c.3815T>C (p.Ile1272Thr)
c.1940T>C (p.Ile647Thr)
6g.129314788T>GCA365612504LAMA2c.3545T>G (p.Ile1182Ser)
c.3809T>G (p.Ile1270Ser)
c.3815T>G (p.Ile1272Ser)
c.1940T>G (p.Ile647Ser)
6g.129314788T=CA1663078690LAMA2c.3545T= (p.Ile1182=)
c.3809T= (p.Ile1270=)
c.3815T= (p.Ile1272=)
c.1940T= (p.Ile647=)
6g.129314789C>ACA451936677LAMA2c.3546C>A (p.Ile1182=)
c.3810C>A (p.Ile1270=)
c.3816C>A (p.Ile1272=)
c.1941C>A (p.Ile647=)
6g.129314789C=CA1663078694LAMA2c.3546C= (p.Ile1182=)
c.3810C= (p.Ile1270=)
c.3816C= (p.Ile1272=)
c.1941C= (p.Ile647=)
6g.129314789C>GCA146913452LAMA2c.3546C>G (p.Ile1182Met)
c.3810C>G (p.Ile1270Met)
c.3816C>G (p.Ile1272Met)
c.1941C>G (p.Ile647Met)
 dbSNP
6g.129314789C>TCA451936676LAMA2c.3546C>T (p.Ile1182=)
c.3810C>T (p.Ile1270=)
c.3816C>T (p.Ile1272=)
c.1941C>T (p.Ile647=)
 dbSNP gnomAD v4
6g.129314790C>ACA451936678LAMA2c.3547C>A (p.Arg1183=)
c.3811C>A (p.Arg1271=)
c.3817C>A (p.Arg1273=)
c.1942C>A (p.Arg648=)
6g.129314790C=CA1663078700LAMA2c.3547C= (p.Arg1183=)
c.3811C= (p.Arg1271=)
c.3817C= (p.Arg1273=)
c.1942C= (p.Arg648=)
6g.129314790C>GCA365612506LAMA2c.3547C>G (p.Arg1183Gly)
c.3811C>G (p.Arg1271Gly)
c.3817C>G (p.Arg1273Gly)
c.1942C>G (p.Arg648Gly)
6g.129314790C>TCA146913454LAMA2c.3547C>T (p.Arg1183Trp)
c.3811C>T (p.Arg1271Trp)
c.3817C>T (p.Arg1273Trp)
c.1942C>T (p.Arg648Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.129314791G>ACA365612510LAMA2c.3548G>A (p.Arg1183Gln)
c.3812G>A (p.Arg1271Gln)
c.3818G>A (p.Arg1273Gln)
c.1943G>A (p.Arg648Gln)
 dbSNP gnomAD v2 gnomAD v4
6g.129314791G>CCA365612507LAMA2c.3548G>C (p.Arg1183Pro)
c.3812G>C (p.Arg1271Pro)
c.3818G>C (p.Arg1273Pro)
c.1943G>C (p.Arg648Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129314791G=CA1663078704LAMA2c.3548G= (p.Arg1183=)
c.3812G= (p.Arg1271=)
c.3818G= (p.Arg1273=)
c.1943G= (p.Arg648=)
6g.129314791G>TCA365612509LAMA2c.3548G>T (p.Arg1183Leu)
c.3812G>T (p.Arg1271Leu)
c.3818G>T (p.Arg1273Leu)
c.1943G>T (p.Arg648Leu)
6g.129314792G>ACA451936681LAMA2c.3549G>A (p.Arg1183=)
c.3813G>A (p.Arg1271=)
c.3819G>A (p.Arg1273=)
c.1944G>A (p.Arg648=)
6g.129314792G>CCA451936680LAMA2c.3549G>C (p.Arg1183=)
c.3813G>C (p.Arg1271=)
c.3819G>C (p.Arg1273=)
c.1944G>C (p.Arg648=)
6g.129314792G>TCA451936679LAMA2c.3549G>T (p.Arg1183=)
c.3813G>T (p.Arg1271=)
c.3819G>T (p.Arg1273=)
c.1944G>T (p.Arg648=)
6g.129314793A>CCA365612512LAMA2c.3550A>C (p.Thr1184Pro)
c.3814A>C (p.Thr1272Pro)
c.3820A>C (p.Thr1274Pro)
c.1945A>C (p.Thr649Pro)
6g.129314793A>GCA365612514LAMA2c.3550A>G (p.Thr1184Ala)
c.3814A>G (p.Thr1272Ala)
c.3820A>G (p.Thr1274Ala)
c.1945A>G (p.Thr649Ala)
6g.129314793A>TCA365612515LAMA2c.3550A>T (p.Thr1184Ser)
c.3814A>T (p.Thr1272Ser)
c.3820A>T (p.Thr1274Ser)
c.1945A>T (p.Thr649Ser)
6g.129314794C>ACA365612520LAMA2c.3551C>A (p.Thr1184Lys)
c.3815C>A (p.Thr1272Lys)
c.3821C>A (p.Thr1274Lys)
c.1946C>A (p.Thr649Lys)
 dbSNP
6g.129314794C=CA1663078709LAMA2c.3551C= (p.Thr1184=)
c.3815C= (p.Thr1272=)
c.3821C= (p.Thr1274=)
c.1946C= (p.Thr649=)
6g.129314794C>GCA365612518LAMA2c.3551C>G (p.Thr1184Arg)
c.3815C>G (p.Thr1272Arg)
c.3821C>G (p.Thr1274Arg)
c.1946C>G (p.Thr649Arg)
6g.129314794C>TCA365612517LAMA2c.3551C>T (p.Thr1184Met)
c.3815C>T (p.Thr1272Met)
c.3821C>T (p.Thr1274Met)
c.1946C>T (p.Thr649Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129314795G>ACA451936682LAMA2c.3552G>A (p.Thr1184=)
c.3816G>A (p.Thr1272=)
c.3822G>A (p.Thr1274=)
c.1947G>A (p.Thr649=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129314795G>CCA451936684LAMA2c.3552G>C (p.Thr1184=)
c.3816G>C (p.Thr1272=)
c.3822G>C (p.Thr1274=)
c.1947G>C (p.Thr649=)
 ClinVar
6g.129314795G=CA1663078712LAMA2c.3552G= (p.Thr1184=)
c.3816G= (p.Thr1272=)
c.3822G= (p.Thr1274=)
c.1947G= (p.Thr649=)
6g.129314795G>TCA451936683LAMA2c.3552G>T (p.Thr1184=)
c.3816G>T (p.Thr1272=)
c.3822G>T (p.Thr1274=)
c.1947G>T (p.Thr649=)
 ClinVar gnomAD v4 COSMIC
6g.129314796T>ACA365612522LAMA2c.3553T>A (p.Trp1185Arg)
c.3817T>A (p.Trp1273Arg)
c.3823T>A (p.Trp1275Arg)
c.1948T>A (p.Trp650Arg)
6g.129314796T>CCA365612523LAMA2c.3553T>C (p.Trp1185Arg)
c.3817T>C (p.Trp1273Arg)
c.3823T>C (p.Trp1275Arg)
c.1948T>C (p.Trp650Arg)
6g.129314796T>GCA365612524LAMA2c.3553T>G (p.Trp1185Gly)
c.3817T>G (p.Trp1273Gly)
c.3823T>G (p.Trp1275Gly)
c.1948T>G (p.Trp650Gly)
6g.129314797G>ACA365612526LAMA2c.3554G>A (p.Trp1185Ter)
c.3818G>A (p.Trp1273Ter)
c.3824G>A (p.Trp1275Ter)
c.1949G>A (p.Trp650Ter)
6g.129314797G>CCA365612528LAMA2c.3554G>C (p.Trp1185Ser)
c.3818G>C (p.Trp1273Ser)
c.3824G>C (p.Trp1275Ser)
c.1949G>C (p.Trp650Ser)
6g.129314797G>TCA365612529LAMA2c.3554G>T (p.Trp1185Leu)
c.3818G>T (p.Trp1273Leu)
c.3824G>T (p.Trp1275Leu)
c.1949G>T (p.Trp650Leu)
6g.129314797_129314798delinsTTCA645546657LAMA2c.3554_3555delinsTT (p.Trp1185Phe)
c.3818_3819delinsTT (p.Trp1273Phe)
c.3824_3825delinsTT (p.Trp1275Phe)
c.1949_1950delinsTT (p.Trp650Phe)
 COSMIC
6g.129314798G>ACA365612531LAMA2c.3555G>A (p.Trp1185Ter)
c.3819G>A (p.Trp1273Ter)
c.3825G>A (p.Trp1275Ter)
c.1950G>A (p.Trp650Ter)
 ClinVar dbSNP
6g.129314798G>CCA3993281LAMA2c.3555G>C (p.Trp1185Cys)
c.3819G>C (p.Trp1273Cys)
c.3825G>C (p.Trp1275Cys)
c.1950G>C (p.Trp650Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129314798G=CA1663078716LAMA2c.3555G= (p.Trp1185=)
c.3819G= (p.Trp1273=)
c.3825G= (p.Trp1275=)
c.1950G= (p.Trp650=)
6g.129314798G>TCA365612532LAMA2c.3555G>T (p.Trp1185Cys)
c.3819G>T (p.Trp1273Cys)
c.3825G>T (p.Trp1275Cys)
c.1950G>T (p.Trp650Cys)
 COSMIC
6g.129314799G>ACA16042627LAMA2c.3555+1G>A (n.3555+1G>A)
c.3819+1G>A (n.3819+1G>A)
c.3825+1G>A (n.3825+1G>A)
c.1950+1G>A (n.1950+1G>A)
 ClinVar dbSNP gnomAD v4 COSMIC
6g.129314799G>CCA365612534LAMA2c.3555+1G>C (n.3555+1G>C)
c.3819+1G>C (n.3819+1G>C)
c.3825+1G>C (n.3825+1G>C)
c.1950+1G>C (n.1950+1G>C)
6g.129314799G=CA1663078720LAMA2c.3555+1G= (n.3555+1G=)
c.3819+1G= (n.3819+1G=)
c.3825+1G= (n.3825+1G=)
c.1950+1G= (n.1950+1G=)
6g.129314799G>TCA365612536LAMA2c.3555+1G>T (n.3555+1G>T)
c.3819+1G>T (n.3819+1G>T)
c.3825+1G>T (n.3825+1G>T)
c.1950+1G>T (n.1950+1G>T)
6g.129314800T>ACA365612537LAMA2c.3555+2T>A (n.3555+2T>A)
c.3819+2T>A (n.3819+2T>A)
c.3825+2T>A (n.3825+2T>A)
c.1950+2T>A (n.1950+2T>A)
6g.129314800T>CCA365612539LAMA2c.3555+2T>C (n.3555+2T>C)
c.3819+2T>C (n.3819+2T>C)
c.3825+2T>C (n.3825+2T>C)
c.1950+2T>C (n.1950+2T>C)
6g.129314800T>GCA365612541LAMA2c.3555+2T>G (n.3555+2T>G)
c.3819+2T>G (n.3819+2T>G)
c.3825+2T>G (n.3825+2T>G)
c.1950+2T>G (n.1950+2T>G)
6g.129314802A>GCA2680319150LAMA2c.3555+4A>G (n.3555+4A>G)
c.3819+4A>G (n.3819+4A>G)
c.3825+4A>G (n.3825+4A>G)
c.1950+4A>G (n.1950+4A>G)
 gnomAD v4
6g.129314803G>ACA2573052576LAMA2c.3555+5G>A (n.3555+5G>A)
c.3819+5G>A (n.3819+5G>A)
c.3825+5G>A (n.3825+5G>A)
c.1950+5G>A (n.1950+5G>A)
 ClinVar dbSNP
6g.129314804T>ACA2573140462LAMA2c.3555+6T>A (n.3555+6T>A)
c.3819+6T>A (n.3819+6T>A)
c.3825+6T>A (n.3825+6T>A)
c.1950+6T>A (n.1950+6T>A)
 ClinVar dbSNP
6g.129314804T>CCA2712938575LAMA2c.3555+6T>C (n.3555+6T>C)
c.3819+6T>C (n.3819+6T>C)
c.3825+6T>C (n.3825+6T>C)
c.1950+6T>C (n.1950+6T>C)
 dbSNP
6g.129314805A=CA1663078721LAMA2c.3555+7A= (n.3555+7A=)
c.3819+7A= (n.3819+7A=)
c.3825+7A= (n.3825+7A=)
c.1950+7A= (n.1950+7A=)
6g.129314805A>GCA3993282LAMA2c.3555+7A>G (n.3555+7A>G)
c.3819+7A>G (n.3819+7A>G)
c.3825+7A>G (n.3825+7A>G)
c.1950+7A>G (n.1950+7A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129314806G>ACA645546658LAMA2c.3555+8G>A (n.3555+8G>A)
c.3819+8G>A (n.3819+8G>A)
c.3825+8G>A (n.3825+8G>A)
c.1950+8G>A (n.1950+8G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.129314806G=CA1663078724LAMA2c.3555+8G= (n.3555+8G=)
c.3819+8G= (n.3819+8G=)
c.3825+8G= (n.3825+8G=)
c.1950+8G= (n.1950+8G=)
6g.129314807G=CA1663078727LAMA2c.3555+9G= (n.3555+9G=)
c.3819+9G= (n.3819+9G=)
c.3825+9G= (n.3825+9G=)
c.1950+9G= (n.1950+9G=)
6g.129314807G>TCA1663078728LAMA2c.3555+9G>T (n.3555+9G>T)
c.3819+9G>T (n.3819+9G>T)
c.3825+9G>T (n.3825+9G>T)
c.1950+9G>T (n.1950+9G>T)
 dbSNP
6g.129314808G>ACA3993283LAMA2c.3555+10G>A (n.3555+10G>A)
c.3819+10G>A (n.3819+10G>A)
c.3825+10G>A (n.3825+10G>A)
c.1950+10G>A (n.1950+10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129314808G=CA1663078731LAMA2c.3555+10G= (n.3555+10G=)
c.3819+10G= (n.3819+10G=)
c.3825+10G= (n.3825+10G=)
c.1950+10G= (n.1950+10G=)
6g.129314810_129314811insTTACA2680319151LAMA2c.3555+12_3555+13insTTA (n.3555+12_3555+13insTTA)
c.3819+12_3819+13insTTA (n.3819+12_3819+13insTTA)
c.3825+12_3825+13insTTA (n.3825+12_3825+13insTTA)
c.1950+12_1950+13insTTA (n.1950+12_1950+13insTTA)
 gnomAD v4
6g.129314811delCA2680319152LAMA2c.3555+13del (n.3555+13del)
c.3819+13del (n.3819+13del)
c.3825+13del (n.3825+13del)
c.1950+13del (n.1950+13del)
 gnomAD v4
6g.129314811C>GCA2580074917LAMA2c.3555+13C>G (n.3555+13C>G)
c.3819+13C>G (n.3819+13C>G)
c.3825+13C>G (n.3825+13C>G)
c.1950+13C>G (n.1950+13C>G)
 ClinVar
6g.129314811C>TCA2578737078LAMA2c.3555+13C>T (n.3555+13C>T)
c.3819+13C>T (n.3819+13C>T)
c.3825+13C>T (n.3825+13C>T)
c.1950+13C>T (n.1950+13C>T)
 gnomAD v4
6g.129314811_129314812insATTACACA2680319153LAMA2c.3555+13_3555+14insATTACA (n.3555+13_3555+14insATTACA)
c.3819+13_3819+14insATTACA (n.3819+13_3819+14insATTACA)
c.3825+13_3825+14insATTACA (n.3825+13_3825+14insATTACA)
c.1950+13_1950+14insATTACA (n.1950+13_1950+14insATTACA)
 gnomAD v4
6g.129314813G>ACA2680319154LAMA2c.3555+15G>A (n.3555+15G>A)
c.3819+15G>A (n.3819+15G>A)
c.3825+15G>A (n.3825+15G>A)
c.1950+15G>A (n.1950+15G>A)
 gnomAD v4
6g.129314813G>TCA2680319155LAMA2c.3555+15G>T (n.3555+15G>T)
c.3819+15G>T (n.3819+15G>T)
c.3825+15G>T (n.3825+15G>T)
c.1950+15G>T (n.1950+15G>T)
 gnomAD v4

Number of alleles fetched