Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129315472G>ACA451936685LAMA2c.3556-4G>A (n.3556-4G>A)
c.3820-4G>A (n.3820-4G>A)
c.3826-4G>A (n.3826-4G>A)
c.1951-4G>A (n.1951-4G>A)
 ClinVar COSMIC
6g.129315472G=CA1663079591LAMA2c.3556-4G= (n.3556-4G=)
c.3820-4G= (n.3820-4G=)
c.3826-4G= (n.3826-4G=)
c.1951-4G= (n.1951-4G=)
6g.129315472G>TCA146913820LAMA2c.3556-4G>T (n.3556-4G>T)
c.3820-4G>T (n.3820-4G>T)
c.3826-4G>T (n.3826-4G>T)
c.1951-4G>T (n.1951-4G>T)
 dbSNP gnomAD v4
6g.129315473C>ACA2580074919LAMA2c.3556-3C>A (n.3556-3C>A)
c.3820-3C>A (n.3820-3C>A)
c.3826-3C>A (n.3826-3C>A)
c.1951-3C>A (n.1951-3C>A)
 ClinVar
6g.129315473C>TCA2680313962LAMA2c.3556-3C>T (n.3556-3C>T)
c.3820-3C>T (n.3820-3C>T)
c.3826-3C>T (n.3826-3C>T)
c.1951-3C>T (n.1951-3C>T)
 gnomAD v4
6g.129315474A>CCA365612575LAMA2c.3556-2A>C (n.3556-2A>C)
c.3820-2A>C (n.3820-2A>C)
c.3826-2A>C (n.3826-2A>C)
c.1951-2A>C (n.1951-2A>C)
6g.129315474A>GCA365612573LAMA2c.3556-2A>G (n.3556-2A>G)
c.3820-2A>G (n.3820-2A>G)
c.3826-2A>G (n.3826-2A>G)
c.1951-2A>G (n.1951-2A>G)
 gnomAD v4
6g.129315474A>TCA365612572LAMA2c.3556-2A>T (n.3556-2A>T)
c.3820-2A>T (n.3820-2A>T)
c.3826-2A>T (n.3826-2A>T)
c.1951-2A>T (n.1951-2A>T)
 ClinVar
6g.129315475G>ACA365612577LAMA2c.3556-1G>A (n.3556-1G>A)
c.3820-1G>A (n.3820-1G>A)
c.3826-1G>A (n.3826-1G>A)
c.1951-1G>A (n.1951-1G>A)
6g.129315475G>CCA365612578LAMA2c.3556-1G>C (n.3556-1G>C)
c.3820-1G>C (n.3820-1G>C)
c.3826-1G>C (n.3826-1G>C)
c.1951-1G>C (n.1951-1G>C)
 ClinVar dbSNP
6g.129315475G>TCA365612580LAMA2c.3556-1G>T (n.3556-1G>T)
c.3820-1G>T (n.3820-1G>T)
c.3826-1G>T (n.3826-1G>T)
c.1951-1G>T (n.1951-1G>T)
6g.129315476G>ACA365612581LAMA2c.3556G>A (p.Val1186Met)
c.3820G>A (p.Val1274Met)
c.3826G>A (p.Val1276Met)
c.1951G>A (p.Val651Met)
6g.129315476G>CCA365612582LAMA2c.3556G>C (p.Val1186Leu)
c.3820G>C (p.Val1274Leu)
c.3826G>C (p.Val1276Leu)
c.1951G>C (p.Val651Leu)
6g.129315476G>TCA365612584LAMA2c.3556G>T (p.Val1186Leu)
c.3820G>T (p.Val1274Leu)
c.3826G>T (p.Val1276Leu)
c.1951G>T (p.Val651Leu)
6g.129315477T>ACA365612586LAMA2c.3557T>A (p.Val1186Glu)
c.3821T>A (p.Val1274Glu)
c.3827T>A (p.Val1276Glu)
c.1952T>A (p.Val651Glu)
6g.129315477T>CCA365612587LAMA2c.3557T>C (p.Val1186Ala)
c.3821T>C (p.Val1274Ala)
c.3827T>C (p.Val1276Ala)
c.1952T>C (p.Val651Ala)
6g.129315477T>GCA365612588LAMA2c.3557T>G (p.Val1186Gly)
c.3821T>G (p.Val1274Gly)
c.3827T>G (p.Val1276Gly)
c.1952T>G (p.Val651Gly)
6g.129315478G>ACA146913828LAMA2c.3558G>A (p.Val1186=)
c.3822G>A (p.Val1274=)
c.3828G>A (p.Val1276=)
c.1953G>A (p.Val651=)
 dbSNP gnomAD v4
6g.129315478G>CCA451936686LAMA2c.3558G>C (p.Val1186=)
c.3822G>C (p.Val1274=)
c.3828G>C (p.Val1276=)
c.1953G>C (p.Val651=)
6g.129315478G=CA1663079594LAMA2c.3558G= (p.Val1186=)
c.3822G= (p.Val1274=)
c.3828G= (p.Val1276=)
c.1953G= (p.Val651=)
6g.129315478G>TCA451936687LAMA2c.3558G>T (p.Val1186=)
c.3822G>T (p.Val1274=)
c.3828G>T (p.Val1276=)
c.1953G>T (p.Val651=)
6g.129315479A=CA1663079599LAMA2c.3559A= (p.Thr1187=)
c.3823A= (p.Thr1275=)
c.3829A= (p.Thr1277=)
c.1954A= (p.Thr652=)
6g.129315479A>CCA365612589LAMA2c.3559A>C (p.Thr1187Pro)
c.3823A>C (p.Thr1275Pro)
c.3829A>C (p.Thr1277Pro)
c.1954A>C (p.Thr652Pro)
6g.129315479A>GCA365612590LAMA2c.3559A>G (p.Thr1187Ala)
c.3823A>G (p.Thr1275Ala)
c.3829A>G (p.Thr1277Ala)
c.1954A>G (p.Thr652Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129315479A>TCA365612592LAMA2c.3559A>T (p.Thr1187Ser)
c.3823A>T (p.Thr1275Ser)
c.3829A>T (p.Thr1277Ser)
c.1954A>T (p.Thr652Ser)
6g.129315479_129315481delinsACTCA1663079600LAMA2c.3559_3561delinsACT (p.Thr1187=)
c.3823_3825delinsACT (p.Thr1275=)
c.3829_3831delinsACT (p.Thr1277=)
c.1954_1956delinsACT (p.Thr652=)
6g.129315480C>ACA365612594LAMA2c.3560C>A (p.Thr1187Asn)
c.3824C>A (p.Thr1275Asn)
c.3830C>A (p.Thr1277Asn)
c.1955C>A (p.Thr652Asn)
6g.129315480C>GCA365612595LAMA2c.3560C>G (p.Thr1187Ser)
c.3824C>G (p.Thr1275Ser)
c.3830C>G (p.Thr1277Ser)
c.1955C>G (p.Thr652Ser)
6g.129315480C>TCA365612593LAMA2c.3560C>T (p.Thr1187Ile)
c.3824C>T (p.Thr1275Ile)
c.3830C>T (p.Thr1277Ile)
c.1955C>T (p.Thr652Ile)
6g.129315482_129315483delCA915943608LAMA2c.3562_3563del (p.Leu1188GlufsTer3)
c.3826_3827del (p.Leu1276GlufsTer3)
c.3832_3833del (p.Leu1278GlufsTer3)
c.1957_1958del (p.Leu653GlufsTer3)
 ClinVar dbSNP
6g.129315480_129315489delCA2695206984LAMA2c.3560_3569del (p.Thr1187MetfsTer9)
c.3824_3833del (p.Thr1275MetfsTer9)
c.3830_3839del (p.Thr1277MetfsTer9)
c.1955_1964del (p.Thr652MetfsTer9)
6g.129315481T>ACA451936688LAMA2c.3561T>A (p.Thr1187=)
c.3825T>A (p.Thr1275=)
c.3831T>A (p.Thr1277=)
c.1956T>A (p.Thr652=)
6g.129315481T>CCA451936689LAMA2c.3561T>C (p.Thr1187=)
c.3825T>C (p.Thr1275=)
c.3831T>C (p.Thr1277=)
c.1956T>C (p.Thr652=)
6g.129315481T>GCA451936690LAMA2c.3561T>G (p.Thr1187=)
c.3825T>G (p.Thr1275=)
c.3831T>G (p.Thr1277=)
c.1956T>G (p.Thr652=)
6g.129315482C>ACA365612596LAMA2c.3562C>A (p.Leu1188Met)
c.3826C>A (p.Leu1276Met)
c.3832C>A (p.Leu1278Met)
c.1957C>A (p.Leu653Met)
6g.129315482C>GCA365612598LAMA2c.3562C>G (p.Leu1188Val)
c.3826C>G (p.Leu1276Val)
c.3832C>G (p.Leu1278Val)
c.1957C>G (p.Leu653Val)
6g.129315482C>TCA451936691LAMA2c.3562C>T (p.Leu1188=)
c.3826C>T (p.Leu1276=)
c.3832C>T (p.Leu1278=)
c.1957C>T (p.Leu653=)
6g.129315483T>ACA365612599LAMA2c.3563T>A (p.Leu1188Gln)
c.3827T>A (p.Leu1276Gln)
c.3833T>A (p.Leu1278Gln)
c.1958T>A (p.Leu653Gln)
6g.129315483T>CCA365612601LAMA2c.3563T>C (p.Leu1188Pro)
c.3827T>C (p.Leu1276Pro)
c.3833T>C (p.Leu1278Pro)
c.1958T>C (p.Leu653Pro)
 gnomAD v4
6g.129315483T>GCA365612602LAMA2c.3563T>G (p.Leu1188Arg)
c.3827T>G (p.Leu1276Arg)
c.3833T>G (p.Leu1278Arg)
c.1958T>G (p.Leu653Arg)
6g.129315484G>ACA451936692LAMA2c.3564G>A (p.Leu1188=)
c.3828G>A (p.Leu1276=)
c.3834G>A (p.Leu1278=)
c.1959G>A (p.Leu653=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.129315484G>CCA451936693LAMA2c.3564G>C (p.Leu1188=)
c.3828G>C (p.Leu1276=)
c.3834G>C (p.Leu1278=)
c.1959G>C (p.Leu653=)
6g.129315484G=CA1663079606LAMA2c.3564G= (p.Leu1188=)
c.3828G= (p.Leu1276=)
c.3834G= (p.Leu1278=)
c.1959G= (p.Leu653=)
6g.129315484G>TCA451936694LAMA2c.3564G>T (p.Leu1188=)
c.3828G>T (p.Leu1276=)
c.3834G>T (p.Leu1278=)
c.1959G>T (p.Leu653=)
6g.129315485A>CCA365612606LAMA2c.3565A>C (p.Lys1189Gln)
c.3829A>C (p.Lys1277Gln)
c.3835A>C (p.Lys1279Gln)
c.1960A>C (p.Lys654Gln)
6g.129315485A>GCA365612604LAMA2c.3565A>G (p.Lys1189Glu)
c.3829A>G (p.Lys1277Glu)
c.3835A>G (p.Lys1279Glu)
c.1960A>G (p.Lys654Glu)
6g.129315485A>TCA365612605LAMA2c.3565A>T (p.Lys1189Ter)
c.3829A>T (p.Lys1277Ter)
c.3835A>T (p.Lys1279Ter)
c.1960A>T (p.Lys654Ter)
6g.129315486A>CCA365612608LAMA2c.3566A>C (p.Lys1189Thr)
c.3830A>C (p.Lys1277Thr)
c.3836A>C (p.Lys1279Thr)
c.1961A>C (p.Lys654Thr)
6g.129315486A>GCA365612609LAMA2c.3566A>G (p.Lys1189Arg)
c.3830A>G (p.Lys1277Arg)
c.3836A>G (p.Lys1279Arg)
c.1961A>G (p.Lys654Arg)
6g.129315486A>TCA365612611LAMA2c.3566A>T (p.Lys1189Met)
c.3830A>T (p.Lys1277Met)
c.3836A>T (p.Lys1279Met)
c.1961A>T (p.Lys654Met)
6g.129315487G>ACA451936695LAMA2c.3567G>A (p.Lys1189=)
c.3831G>A (p.Lys1277=)
c.3837G>A (p.Lys1279=)
c.1962G>A (p.Lys654=)
 COSMIC
6g.129315487G>CCA365612613LAMA2c.3567G>C (p.Lys1189Asn)
c.3831G>C (p.Lys1277Asn)
c.3837G>C (p.Lys1279Asn)
c.1962G>C (p.Lys654Asn)
6g.129315487G>TCA365612614LAMA2c.3567G>T (p.Lys1189Asn)
c.3831G>T (p.Lys1277Asn)
c.3837G>T (p.Lys1279Asn)
c.1962G>T (p.Lys654Asn)
 dbSNP gnomAD v4
6g.129315488G>ACA365612615LAMA2c.3568G>A (p.Ala1190Thr)
c.3832G>A (p.Ala1278Thr)
c.3838G>A (p.Ala1280Thr)
c.1963G>A (p.Ala655Thr)
6g.129315488G>CCA365612618LAMA2c.3568G>C (p.Ala1190Pro)
c.3832G>C (p.Ala1278Pro)
c.3838G>C (p.Ala1280Pro)
c.1963G>C (p.Ala655Pro)
6g.129315488G=CA1663079608LAMA2c.3568G= (p.Ala1190=)
c.3832G= (p.Ala1278=)
c.3838G= (p.Ala1280=)
c.1963G= (p.Ala655=)
6g.129315488G>TCA365612616LAMA2c.3568G>T (p.Ala1190Ser)
c.3832G>T (p.Ala1278Ser)
c.3838G>T (p.Ala1280Ser)
c.1963G>T (p.Ala655Ser)
6g.129315488_129315489insTCA1663079609LAMA2c.3568_3569insT (p.Ala1190ValfsTer2)
c.3832_3833insT (p.Ala1278ValfsTer2)
c.3838_3839insT (p.Ala1280ValfsTer2)
c.1963_1964insT (p.Ala655ValfsTer2)
 dbSNP
6g.129315489C>ACA365612619LAMA2c.3569C>A (p.Ala1190Asp)
c.3833C>A (p.Ala1278Asp)
c.3839C>A (p.Ala1280Asp)
c.1964C>A (p.Ala655Asp)
6g.129315489C>GCA365612621LAMA2c.3569C>G (p.Ala1190Gly)
c.3833C>G (p.Ala1278Gly)
c.3839C>G (p.Ala1280Gly)
c.1964C>G (p.Ala655Gly)
6g.129315489C>TCA365612622LAMA2c.3569C>T (p.Ala1190Val)
c.3833C>T (p.Ala1278Val)
c.3839C>T (p.Ala1280Val)
c.1964C>T (p.Ala655Val)
6g.129315490T>ACA451936696LAMA2c.3570T>A (p.Ala1190=)
c.3834T>A (p.Ala1278=)
c.3840T>A (p.Ala1280=)
c.1965T>A (p.Ala655=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129315490T>CCA3993303LAMA2c.3570T>C (p.Ala1190=)
c.3834T>C (p.Ala1278=)
c.3840T>C (p.Ala1280=)
c.1965T>C (p.Ala655=)
 ClinVar dbSNP ExAC gnomAD v2
6g.129315490T>GCA451936697LAMA2c.3570T>G (p.Ala1190=)
c.3834T>G (p.Ala1278=)
c.3840T>G (p.Ala1280=)
c.1965T>G (p.Ala655=)
 dbSNP gnomAD v2 gnomAD v4
6g.129315490T=CA1663079614LAMA2c.3570T= (p.Ala1190=)
c.3834T= (p.Ala1278=)
c.3840T= (p.Ala1280=)
c.1965T= (p.Ala655=)
6g.129315491G>ACA365612625LAMA2c.3571G>A (p.Glu1191Lys)
c.3835G>A (p.Glu1279Lys)
c.3841G>A (p.Glu1281Lys)
c.1966G>A (p.Glu656Lys)
 gnomAD v4 COSMIC
6g.129315491G>CCA365612626LAMA2c.3571G>C (p.Glu1191Gln)
c.3835G>C (p.Glu1279Gln)
c.3841G>C (p.Glu1281Gln)
c.1966G>C (p.Glu656Gln)
6g.129315491G>TCA365612628LAMA2c.3571G>T (p.Glu1191Ter)
c.3835G>T (p.Glu1279Ter)
c.3841G>T (p.Glu1281Ter)
c.1966G>T (p.Glu656Ter)
 COSMIC
6g.129315492A=CA1663079622LAMA2c.3572A= (p.Glu1191=)
c.3836A= (p.Glu1279=)
c.3842A= (p.Glu1281=)
c.1967A= (p.Glu656=)
6g.129315492A>CCA365612630LAMA2c.3572A>C (p.Glu1191Ala)
c.3836A>C (p.Glu1279Ala)
c.3842A>C (p.Glu1281Ala)
c.1967A>C (p.Glu656Ala)
6g.129315492A>GCA365612631LAMA2c.3572A>G (p.Glu1191Gly)
c.3836A>G (p.Glu1279Gly)
c.3842A>G (p.Glu1281Gly)
c.1967A>G (p.Glu656Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129315492A>TCA365612632LAMA2c.3572A>T (p.Glu1191Val)
c.3836A>T (p.Glu1279Val)
c.3842A>T (p.Glu1281Val)
c.1967A>T (p.Glu656Val)
6g.129315493G>ACA451936698LAMA2c.3573G>A (p.Glu1191=)
c.3837G>A (p.Glu1279=)
c.3843G>A (p.Glu1281=)
c.1968G>A (p.Glu656=)
6g.129315493G>CCA365612634LAMA2c.3573G>C (p.Glu1191Asp)
c.3837G>C (p.Glu1279Asp)
c.3843G>C (p.Glu1281Asp)
c.1968G>C (p.Glu656Asp)
6g.129315493G=CA1663079625LAMA2c.3573G= (p.Glu1191=)
c.3837G= (p.Glu1279=)
c.3843G= (p.Glu1281=)
c.1968G= (p.Glu656=)
6g.129315493G>TCA3993304LAMA2c.3573G>T (p.Glu1191Asp)
c.3837G>T (p.Glu1279Asp)
c.3843G>T (p.Glu1281Asp)
c.1968G>T (p.Glu656Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315494C>ACA146913858LAMA2c.3574C>A (p.Gln1192Lys)
c.3838C>A (p.Gln1280Lys)
c.3844C>A (p.Gln1282Lys)
c.1969C>A (p.Gln657Lys)
 dbSNP gnomAD v4
6g.129315494C=CA1663079630LAMA2c.3574C= (p.Gln1192=)
c.3838C= (p.Gln1280=)
c.3844C= (p.Gln1282=)
c.1969C= (p.Gln657=)
6g.129315494C>GCA365612638LAMA2c.3574C>G (p.Gln1192Glu)
c.3838C>G (p.Gln1280Glu)
c.3844C>G (p.Gln1282Glu)
c.1969C>G (p.Gln657Glu)
6g.129315494C>TCA365612636LAMA2c.3574C>T (p.Gln1192Ter)
c.3838C>T (p.Gln1280Ter)
c.3844C>T (p.Gln1282Ter)
c.1969C>T (p.Gln657Ter)
6g.129315495A>CCA365612639LAMA2c.3575A>C (p.Gln1192Pro)
c.3839A>C (p.Gln1280Pro)
c.3845A>C (p.Gln1282Pro)
c.1970A>C (p.Gln657Pro)
6g.129315495A>GCA365612641LAMA2c.3575A>G (p.Gln1192Arg)
c.3839A>G (p.Gln1280Arg)
c.3845A>G (p.Gln1282Arg)
c.1970A>G (p.Gln657Arg)
6g.129315495A>TCA365612643LAMA2c.3575A>T (p.Gln1192Leu)
c.3839A>T (p.Gln1280Leu)
c.3845A>T (p.Gln1282Leu)
c.1970A>T (p.Gln657Leu)
6g.129315496G>ACA451936699LAMA2c.3576G>A (p.Gln1192=)
c.3840G>A (p.Gln1280=)
c.3846G>A (p.Gln1282=)
c.1971G>A (p.Gln657=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129315496G>CCA365612644LAMA2c.3576G>C (p.Gln1192His)
c.3840G>C (p.Gln1280His)
c.3846G>C (p.Gln1282His)
c.1971G>C (p.Gln657His)
 gnomAD v4
6g.129315496G=CA1663079635LAMA2c.3576G= (p.Gln1192=)
c.3840G= (p.Gln1280=)
c.3846G= (p.Gln1282=)
c.1971G= (p.Gln657=)
6g.129315496G>TCA365612646LAMA2c.3576G>T (p.Gln1192His)
c.3840G>T (p.Gln1280His)
c.3846G>T (p.Gln1282His)
c.1971G>T (p.Gln657His)
6g.129315497A=CA1663079640LAMA2c.3577A= (p.Thr1193=)
c.3841A= (p.Thr1281=)
c.3847A= (p.Thr1283=)
c.1972A= (p.Thr658=)
6g.129315497A>CCA365612650LAMA2c.3577A>C (p.Thr1193Pro)
c.3841A>C (p.Thr1281Pro)
c.3847A>C (p.Thr1283Pro)
c.1972A>C (p.Thr658Pro)
6g.129315497A>GCA365612648LAMA2c.3577A>G (p.Thr1193Ala)
c.3841A>G (p.Thr1281Ala)
c.3847A>G (p.Thr1283Ala)
c.1972A>G (p.Thr658Ala)
6g.129315497A>TCA365612647LAMA2c.3577A>T (p.Thr1193Ser)
c.3841A>T (p.Thr1281Ser)
c.3847A>T (p.Thr1283Ser)
c.1972A>T (p.Thr658Ser)
 dbSNP
6g.129315498C>ACA365612651LAMA2c.3578C>A (p.Thr1193Asn)
c.3842C>A (p.Thr1281Asn)
c.3848C>A (p.Thr1283Asn)
c.1973C>A (p.Thr658Asn)
6g.129315498C=CA1663079645LAMA2c.3578C= (p.Thr1193=)
c.3842C= (p.Thr1281=)
c.3848C= (p.Thr1283=)
c.1973C= (p.Thr658=)
6g.129315498C>GCA3993305LAMA2c.3578C>G (p.Thr1193Ser)
c.3842C>G (p.Thr1281Ser)
c.3848C>G (p.Thr1283Ser)
c.1973C>G (p.Thr658Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315498C>TCA365612652LAMA2c.3578C>T (p.Thr1193Ile)
c.3842C>T (p.Thr1281Ile)
c.3848C>T (p.Thr1283Ile)
c.1973C>T (p.Thr658Ile)
 gnomAD v4
6g.129315499C>ACA451936700LAMA2c.3579C>A (p.Thr1193=)
c.3843C>A (p.Thr1281=)
c.3849C>A (p.Thr1283=)
c.1974C>A (p.Thr658=)
 ClinVar dbSNP gnomAD v4
6g.129315499C=CA1663079650LAMA2c.3579C= (p.Thr1193=)
c.3843C= (p.Thr1281=)
c.3849C= (p.Thr1283=)
c.1974C= (p.Thr658=)
6g.129315499C>GCA3993306LAMA2c.3579C>G (p.Thr1193=)
c.3843C>G (p.Thr1281=)
c.3849C>G (p.Thr1283=)
c.1974C>G (p.Thr658=)
 dbSNP ExAC gnomAD v2
6g.129315499C>TCA451936701LAMA2c.3579C>T (p.Thr1193=)
c.3843C>T (p.Thr1281=)
c.3849C>T (p.Thr1283=)
c.1974C>T (p.Thr658=)
6g.129315500A=CA1663079653LAMA2c.3580A= (p.Ile1194=)
c.3844A= (p.Ile1282=)
c.3850A= (p.Ile1284=)
c.1975A= (p.Ile659=)
6g.129315500A>CCA365612654LAMA2c.3580A>C (p.Ile1194Leu)
c.3844A>C (p.Ile1282Leu)
c.3850A>C (p.Ile1284Leu)
c.1975A>C (p.Ile659Leu)
6g.129315500A>GCA365612656LAMA2c.3580A>G (p.Ile1194Val)
c.3844A>G (p.Ile1282Val)
c.3850A>G (p.Ile1284Val)
c.1975A>G (p.Ile659Val)
 dbSNP gnomAD v3 gnomAD v4
6g.129315500A>TCA365612658LAMA2c.3580A>T (p.Ile1194Phe)
c.3844A>T (p.Ile1282Phe)
c.3850A>T (p.Ile1284Phe)
c.1975A>T (p.Ile659Phe)
6g.129315501T>ACA365612660LAMA2c.3581T>A (p.Ile1194Asn)
c.3845T>A (p.Ile1282Asn)
c.3851T>A (p.Ile1284Asn)
c.1976T>A (p.Ile659Asn)
6g.129315501T>CCA365612662LAMA2c.3581T>C (p.Ile1194Thr)
c.3845T>C (p.Ile1282Thr)
c.3851T>C (p.Ile1284Thr)
c.1976T>C (p.Ile659Thr)
6g.129315501T>GCA365612661LAMA2c.3581T>G (p.Ile1194Ser)
c.3845T>G (p.Ile1282Ser)
c.3851T>G (p.Ile1284Ser)
c.1976T>G (p.Ile659Ser)
6g.129315502T>ACA451936702LAMA2c.3582T>A (p.Ile1194=)
c.3846T>A (p.Ile1282=)
c.3852T>A (p.Ile1284=)
c.1977T>A (p.Ile659=)
6g.129315502T>CCA3993307LAMA2c.3582T>C (p.Ile1194=)
c.3846T>C (p.Ile1282=)
c.3852T>C (p.Ile1284=)
c.1977T>C (p.Ile659=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315502T>GCA365612664LAMA2c.3582T>G (p.Ile1194Met)
c.3846T>G (p.Ile1282Met)
c.3852T>G (p.Ile1284Met)
c.1977T>G (p.Ile659Met)
6g.129315502T=CA1663079657LAMA2c.3582T= (p.Ile1194=)
c.3846T= (p.Ile1282=)
c.3852T= (p.Ile1284=)
c.1977T= (p.Ile659=)
6g.129315503C>ACA365612666LAMA2c.3583C>A (p.Leu1195Ile)
c.3847C>A (p.Leu1283Ile)
c.3853C>A (p.Leu1285Ile)
c.1978C>A (p.Leu660Ile)
6g.129315503C=CA1663079665LAMA2c.3583C= (p.Leu1195=)
c.3847C= (p.Leu1283=)
c.3853C= (p.Leu1285=)
c.1978C= (p.Leu660=)
6g.129315503C>GCA365612668LAMA2c.3583C>G (p.Leu1195Val)
c.3847C>G (p.Leu1283Val)
c.3853C>G (p.Leu1285Val)
c.1978C>G (p.Leu660Val)
6g.129315503C>TCA146913877LAMA2c.3583C>T (p.Leu1195=)
c.3847C>T (p.Leu1283=)
c.3853C>T (p.Leu1285=)
c.1978C>T (p.Leu660=)
 dbSNP COSMIC
6g.129315504T>ACA365612669LAMA2c.3584T>A (p.Leu1195Gln)
c.3848T>A (p.Leu1283Gln)
c.3854T>A (p.Leu1285Gln)
c.1979T>A (p.Leu660Gln)
 dbSNP gnomAD v4
6g.129315504T>CCA3993308LAMA2c.3584T>C (p.Leu1195Pro)
c.3848T>C (p.Leu1283Pro)
c.3854T>C (p.Leu1285Pro)
c.1979T>C (p.Leu660Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315504T>GCA365612672LAMA2c.3584T>G (p.Leu1195Arg)
c.3848T>G (p.Leu1283Arg)
c.3854T>G (p.Leu1285Arg)
c.1979T>G (p.Leu660Arg)
6g.129315504T=CA1663079669LAMA2c.3584T= (p.Leu1195=)
c.3848T= (p.Leu1283=)
c.3854T= (p.Leu1285=)
c.1979T= (p.Leu660=)
6g.129315505A=CA1663079672LAMA2c.3585A= (p.Leu1195=)
c.3849A= (p.Leu1283=)
c.3855A= (p.Leu1285=)
c.1980A= (p.Leu660=)
6g.129315505A>CCA451936703LAMA2c.3585A>C (p.Leu1195=)
c.3849A>C (p.Leu1283=)
c.3855A>C (p.Leu1285=)
c.1980A>C (p.Leu660=)
6g.129315505A>GCA242505LAMA2c.3585A>G (p.Leu1195=)
c.3849A>G (p.Leu1283=)
c.3855A>G (p.Leu1285=)
c.1980A>G (p.Leu660=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315505A>TCA451936704LAMA2c.3585A>T (p.Leu1195=)
c.3849A>T (p.Leu1283=)
c.3855A>T (p.Leu1285=)
c.1980A>T (p.Leu660=)
6g.129315506C>ACA365612674LAMA2c.3586C>A (p.Pro1196Thr)
c.3850C>A (p.Pro1284Thr)
c.3856C>A (p.Pro1286Thr)
c.1981C>A (p.Pro661Thr)
6g.129315506C=CA1663079678LAMA2c.3586C= (p.Pro1196=)
c.3850C= (p.Pro1284=)
c.3856C= (p.Pro1286=)
c.1981C= (p.Pro661=)
6g.129315506C>GCA365612676LAMA2c.3586C>G (p.Pro1196Ala)
c.3850C>G (p.Pro1284Ala)
c.3856C>G (p.Pro1286Ala)
c.1981C>G (p.Pro661Ala)
6g.129315506C>TCA3993309LAMA2c.3586C>T (p.Pro1196Ser)
c.3850C>T (p.Pro1284Ser)
c.3856C>T (p.Pro1286Ser)
c.1981C>T (p.Pro661Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315509delCA645546660LAMA2c.3589del (p.Leu1197TrpfsTer2)
c.3853del (p.Leu1285TrpfsTer2)
c.3859del (p.Leu1287TrpfsTer2)
c.1984del (p.Leu662TrpfsTer2)
 COSMIC
6g.129315507C>ACA365612678LAMA2c.3587C>A (p.Pro1196His)
c.3851C>A (p.Pro1284His)
c.3857C>A (p.Pro1286His)
c.1982C>A (p.Pro661His)
 gnomAD v4
6g.129315507C=CA1663079684LAMA2c.3587C= (p.Pro1196=)
c.3851C= (p.Pro1284=)
c.3857C= (p.Pro1286=)
c.1982C= (p.Pro661=)
6g.129315507C>GCA365612681LAMA2c.3587C>G (p.Pro1196Arg)
c.3851C>G (p.Pro1284Arg)
c.3857C>G (p.Pro1286Arg)
c.1982C>G (p.Pro661Arg)
6g.129315507C>TCA365612680LAMA2c.3587C>T (p.Pro1196Leu)
c.3851C>T (p.Pro1284Leu)
c.3857C>T (p.Pro1286Leu)
c.1982C>T (p.Pro661Leu)
 dbSNP gnomAD v4
6g.129315508C>ACA451936707LAMA2c.3588C>A (p.Pro1196=)
c.3852C>A (p.Pro1284=)
c.3858C>A (p.Pro1286=)
c.1983C>A (p.Pro661=)
 gnomAD v4
6g.129315508C>GCA451936706LAMA2c.3588C>G (p.Pro1196=)
c.3852C>G (p.Pro1284=)
c.3858C>G (p.Pro1286=)
c.1983C>G (p.Pro661=)
6g.129315508C>TCA451936705LAMA2c.3588C>T (p.Pro1196=)
c.3852C>T (p.Pro1284=)
c.3858C>T (p.Pro1286=)
c.1983C>T (p.Pro661=)
 gnomAD v4 COSMIC
6g.129315509C>ACA365612682LAMA2c.3589C>A (p.Leu1197Met)
c.3853C>A (p.Leu1285Met)
c.3859C>A (p.Leu1287Met)
c.1984C>A (p.Leu662Met)
6g.129315509C>GCA365612684LAMA2c.3589C>G (p.Leu1197Val)
c.3853C>G (p.Leu1285Val)
c.3859C>G (p.Leu1287Val)
c.1984C>G (p.Leu662Val)
6g.129315509C>TCA451936708LAMA2c.3589C>T (p.Leu1197=)
c.3853C>T (p.Leu1285=)
c.3859C>T (p.Leu1287=)
c.1984C>T (p.Leu662=)
6g.129315510T>ACA365612686LAMA2c.3590T>A (p.Leu1197Gln)
c.3854T>A (p.Leu1285Gln)
c.3860T>A (p.Leu1287Gln)
c.1985T>A (p.Leu662Gln)
6g.129315510T>CCA365612687LAMA2c.3590T>C (p.Leu1197Pro)
c.3854T>C (p.Leu1285Pro)
c.3860T>C (p.Leu1287Pro)
c.1985T>C (p.Leu662Pro)
 ClinVar dbSNP
6g.129315510T>GCA365612689LAMA2c.3590T>G (p.Leu1197Arg)
c.3854T>G (p.Leu1285Arg)
c.3860T>G (p.Leu1287Arg)
c.1985T>G (p.Leu662Arg)
6g.129315511G>ACA451936709LAMA2c.3591G>A (p.Leu1197=)
c.3855G>A (p.Leu1285=)
c.3861G>A (p.Leu1287=)
c.1986G>A (p.Leu662=)
 ClinVar
6g.129315511G>CCA3993310LAMA2c.3591G>C (p.Leu1197=)
c.3855G>C (p.Leu1285=)
c.3861G>C (p.Leu1287=)
c.1986G>C (p.Leu662=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315511G=CA1663079689LAMA2c.3591G= (p.Leu1197=)
c.3855G= (p.Leu1285=)
c.3861G= (p.Leu1287=)
c.1986G= (p.Leu662=)
6g.129315511G>TCA451936710LAMA2c.3591G>T (p.Leu1197=)
c.3855G>T (p.Leu1285=)
c.3861G>T (p.Leu1287=)
c.1986G>T (p.Leu662=)
 gnomAD v4
6g.129315512G>ACA365612691LAMA2c.3592G>A (p.Val1198Ile)
c.3856G>A (p.Val1286Ile)
c.3862G>A (p.Val1288Ile)
c.1987G>A (p.Val663Ile)
6g.129315512G>CCA365612693LAMA2c.3592G>C (p.Val1198Leu)
c.3856G>C (p.Val1286Leu)
c.3862G>C (p.Val1288Leu)
c.1987G>C (p.Val663Leu)
 gnomAD v4
6g.129315512G=CA1663079692LAMA2c.3592G= (p.Val1198=)
c.3856G= (p.Val1286=)
c.3862G= (p.Val1288=)
c.1987G= (p.Val663=)
6g.129315512G>TCA365612695LAMA2c.3592G>T (p.Val1198Leu)
c.3856G>T (p.Val1286Leu)
c.3862G>T (p.Val1288Leu)
c.1987G>T (p.Val663Leu)
 dbSNP
6g.129315513T>ACA365612696LAMA2c.3593T>A (p.Val1198Glu)
c.3857T>A (p.Val1286Glu)
c.3863T>A (p.Val1288Glu)
c.1988T>A (p.Val663Glu)
6g.129315513T>CCA3993311LAMA2c.3593T>C (p.Val1198Ala)
c.3857T>C (p.Val1286Ala)
c.3863T>C (p.Val1288Ala)
c.1988T>C (p.Val663Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315513T>GCA365612698LAMA2c.3593T>G (p.Val1198Gly)
c.3857T>G (p.Val1286Gly)
c.3863T>G (p.Val1288Gly)
c.1988T>G (p.Val663Gly)
6g.129315513T=CA1663079693LAMA2c.3593T= (p.Val1198=)
c.3857T= (p.Val1286=)
c.3863T= (p.Val1288=)
c.1988T= (p.Val663=)
6g.129315513_129315525delCA2573052577LAMA2c.3593_3605del (p.Val1198GlyfsTer22)
c.3857_3869del (p.Val1286GlyfsTer22)
c.3863_3875del (p.Val1288GlyfsTer22)
c.1988_2000del (p.Val663GlyfsTer22)
 ClinVar dbSNP
6g.129315514A=CA1663079696LAMA2c.3594A= (p.Val1198=)
c.3858A= (p.Val1286=)
c.3864A= (p.Val1288=)
c.1989A= (p.Val663=)
6g.129315514A>CCA451936711LAMA2c.3594A>C (p.Val1198=)
c.3858A>C (p.Val1286=)
c.3864A>C (p.Val1288=)
c.1989A>C (p.Val663=)
6g.129315514A>GCA3993312LAMA2c.3594A>G (p.Val1198=)
c.3858A>G (p.Val1286=)
c.3864A>G (p.Val1288=)
c.1989A>G (p.Val663=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315514A>TCA451936712LAMA2c.3594A>T (p.Val1198=)
c.3858A>T (p.Val1286=)
c.3864A>T (p.Val1288=)
c.1989A>T (p.Val663=)
6g.129315515G>ACA365612704LAMA2c.3595G>A (p.Asp1199Asn)
c.3859G>A (p.Asp1287Asn)
c.3865G>A (p.Asp1289Asn)
c.1990G>A (p.Asp664Asn)
6g.129315515G>CCA365612701LAMA2c.3595G>C (p.Asp1199His)
c.3859G>C (p.Asp1287His)
c.3865G>C (p.Asp1289His)
c.1990G>C (p.Asp664His)
6g.129315515G>TCA365612702LAMA2c.3595G>T (p.Asp1199Tyr)
c.3859G>T (p.Asp1287Tyr)
c.3865G>T (p.Asp1289Tyr)
c.1990G>T (p.Asp664Tyr)
6g.129315516A=CA1663079702LAMA2c.3596A= (p.Asp1199=)
c.3860A= (p.Asp1287=)
c.3866A= (p.Asp1289=)
c.1991A= (p.Asp664=)
6g.129315516A>CCA365612706LAMA2c.3596A>C (p.Asp1199Ala)
c.3860A>C (p.Asp1287Ala)
c.3866A>C (p.Asp1289Ala)
c.1991A>C (p.Asp664Ala)
 gnomAD v4
6g.129315516A>GCA365612707LAMA2c.3596A>G (p.Asp1199Gly)
c.3860A>G (p.Asp1287Gly)
c.3866A>G (p.Asp1289Gly)
c.1991A>G (p.Asp664Gly)
6g.129315516A>TCA365612708LAMA2c.3596A>T (p.Asp1199Val)
c.3860A>T (p.Asp1287Val)
c.3866A>T (p.Asp1289Val)
c.1991A>T (p.Asp664Val)
 dbSNP gnomAD v4
6g.129315517T>ACA365612709LAMA2c.3597T>A (p.Asp1199Glu)
c.3861T>A (p.Asp1287Glu)
c.3867T>A (p.Asp1289Glu)
c.1992T>A (p.Asp664Glu)
6g.129315517T>CCA3993313LAMA2c.3597T>C (p.Asp1199=)
c.3861T>C (p.Asp1287=)
c.3867T>C (p.Asp1289=)
c.1992T>C (p.Asp664=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315517T>GCA365612711LAMA2c.3597T>G (p.Asp1199Glu)
c.3861T>G (p.Asp1287Glu)
c.3867T>G (p.Asp1289Glu)
c.1992T>G (p.Asp664Glu)
6g.129315517T=CA1663079708LAMA2c.3597T= (p.Asp1199=)
c.3861T= (p.Asp1287=)
c.3867T= (p.Asp1289=)
c.1992T= (p.Asp664=)
6g.129315518G>ACA365612713LAMA2c.3598G>A (p.Glu1200Lys)
c.3862G>A (p.Glu1288Lys)
c.3868G>A (p.Glu1290Lys)
c.1993G>A (p.Glu665Lys)
 dbSNP gnomAD v4
6g.129315518G>CCA365612715LAMA2c.3598G>C (p.Glu1200Gln)
c.3862G>C (p.Glu1288Gln)
c.3868G>C (p.Glu1290Gln)
c.1993G>C (p.Glu665Gln)
6g.129315518G=CA1663079710LAMA2c.3598G= (p.Glu1200=)
c.3862G= (p.Glu1288=)
c.3868G= (p.Glu1290=)
c.1993G= (p.Glu665=)
6g.129315518G>TCA365612716LAMA2c.3598G>T (p.Glu1200Ter)
c.3862G>T (p.Glu1288Ter)
c.3868G>T (p.Glu1290Ter)
c.1993G>T (p.Glu665Ter)
6g.129315519A>CCA365612717LAMA2c.3599A>C (p.Glu1200Ala)
c.3863A>C (p.Glu1288Ala)
c.3869A>C (p.Glu1290Ala)
c.1994A>C (p.Glu665Ala)
6g.129315519A>GCA365612719LAMA2c.3599A>G (p.Glu1200Gly)
c.3863A>G (p.Glu1288Gly)
c.3869A>G (p.Glu1290Gly)
c.1994A>G (p.Glu665Gly)
6g.129315519A>TCA365612720LAMA2c.3599A>T (p.Glu1200Val)
c.3863A>T (p.Glu1288Val)
c.3869A>T (p.Glu1290Val)
c.1994A>T (p.Glu665Val)
6g.129315520G>ACA451936713LAMA2c.3600G>A (p.Glu1200=)
c.3864G>A (p.Glu1288=)
c.3870G>A (p.Glu1290=)
c.1995G>A (p.Glu665=)
 gnomAD v4 COSMIC
6g.129315520G>CCA365612722LAMA2c.3600G>C (p.Glu1200Asp)
c.3864G>C (p.Glu1288Asp)
c.3870G>C (p.Glu1290Asp)
c.1995G>C (p.Glu665Asp)
6g.129315520G>TCA365612724LAMA2c.3600G>T (p.Glu1200Asp)
c.3864G>T (p.Glu1288Asp)
c.3870G>T (p.Glu1290Asp)
c.1995G>T (p.Glu665Asp)
 gnomAD v4
6g.129315521G>ACA365612725LAMA2c.3601G>A (p.Ala1201Thr)
c.3865G>A (p.Ala1289Thr)
c.3871G>A (p.Ala1291Thr)
c.1996G>A (p.Ala666Thr)
 gnomAD v4
6g.129315521G>CCA365612726LAMA2c.3601G>C (p.Ala1201Pro)
c.3865G>C (p.Ala1289Pro)
c.3871G>C (p.Ala1291Pro)
c.1996G>C (p.Ala666Pro)
6g.129315521G=CA1663079714LAMA2c.3601G= (p.Ala1201=)
c.3865G= (p.Ala1289=)
c.3871G= (p.Ala1291=)
c.1996G= (p.Ala666=)
6g.129315521G>TCA3993314LAMA2c.3601G>T (p.Ala1201Ser)
c.3865G>T (p.Ala1289Ser)
c.3871G>T (p.Ala1291Ser)
c.1996G>T (p.Ala666Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315522C>ACA365612728LAMA2c.3602C>A (p.Ala1201Asp)
c.3866C>A (p.Ala1289Asp)
c.3872C>A (p.Ala1291Asp)
c.1997C>A (p.Ala666Asp)
6g.129315522C=CA1663079717LAMA2c.3602C= (p.Ala1201=)
c.3866C= (p.Ala1289=)
c.3872C= (p.Ala1291=)
c.1997C= (p.Ala666=)
6g.129315522C>GCA365612731LAMA2c.3602C>G (p.Ala1201Gly)
c.3866C>G (p.Ala1289Gly)
c.3872C>G (p.Ala1291Gly)
c.1997C>G (p.Ala666Gly)
6g.129315522C>TCA365612729LAMA2c.3602C>T (p.Ala1201Val)
c.3866C>T (p.Ala1289Val)
c.3872C>T (p.Ala1291Val)
c.1997C>T (p.Ala666Val)
 ClinVar dbSNP
6g.129315523T>ACA451936714LAMA2c.3603T>A (p.Ala1201=)
c.3867T>A (p.Ala1289=)
c.3873T>A (p.Ala1291=)
c.1998T>A (p.Ala666=)
6g.129315523T>CCA451936715LAMA2c.3603T>C (p.Ala1201=)
c.3867T>C (p.Ala1289=)
c.3873T>C (p.Ala1291=)
c.1998T>C (p.Ala666=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129315523T>GCA451936716LAMA2c.3603T>G (p.Ala1201=)
c.3867T>G (p.Ala1289=)
c.3873T>G (p.Ala1291=)
c.1998T>G (p.Ala666=)
6g.129315523T=CA1663079721LAMA2c.3603T= (p.Ala1201=)
c.3867T= (p.Ala1289=)
c.3873T= (p.Ala1291=)
c.1998T= (p.Ala666=)
6g.129315524C>ACA365612732LAMA2c.3604C>A (p.Leu1202Met)
c.3868C>A (p.Leu1290Met)
c.3874C>A (p.Leu1292Met)
c.1999C>A (p.Leu667Met)
6g.129315524C=CA1663079726LAMA2c.3604C= (p.Leu1202=)
c.3868C= (p.Leu1290=)
c.3874C= (p.Leu1292=)
c.1999C= (p.Leu667=)
6g.129315524C>GCA3993315LAMA2c.3604C>G (p.Leu1202Val)
c.3868C>G (p.Leu1290Val)
c.3874C>G (p.Leu1292Val)
c.1999C>G (p.Leu667Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315524C>TCA451936717LAMA2c.3604C>T (p.Leu1202=)
c.3868C>T (p.Leu1290=)
c.3874C>T (p.Leu1292=)
c.1999C>T (p.Leu667=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129315525T>ACA365612734LAMA2c.3605T>A (p.Leu1202Gln)
c.3869T>A (p.Leu1290Gln)
c.3875T>A (p.Leu1292Gln)
c.2000T>A (p.Leu667Gln)
6g.129315525T>CCA365612736LAMA2c.3605T>C (p.Leu1202Pro)
c.3869T>C (p.Leu1290Pro)
c.3875T>C (p.Leu1292Pro)
c.2000T>C (p.Leu667Pro)
 dbSNP
6g.129315525T>GCA365612737LAMA2c.3605T>G (p.Leu1202Arg)
c.3869T>G (p.Leu1290Arg)
c.3875T>G (p.Leu1292Arg)
c.2000T>G (p.Leu667Arg)
6g.129315525T=CA1663079734LAMA2c.3605T= (p.Leu1202=)
c.3869T= (p.Leu1290=)
c.3875T= (p.Leu1292=)
c.2000T= (p.Leu667=)
6g.129315526G>ACA451936718LAMA2c.3606G>A (p.Leu1202=)
c.3870G>A (p.Leu1290=)
c.3876G>A (p.Leu1292=)
c.2001G>A (p.Leu667=)
6g.129315526G>CCA451936719LAMA2c.3606G>C (p.Leu1202=)
c.3870G>C (p.Leu1290=)
c.3876G>C (p.Leu1292=)
c.2001G>C (p.Leu667=)
6g.129315526G>TCA451936720LAMA2c.3606G>T (p.Leu1202=)
c.3870G>T (p.Leu1290=)
c.3876G>T (p.Leu1292=)
c.2001G>T (p.Leu667=)
 COSMIC
6g.129315527C>ACA3993316LAMA2c.3607C>A (p.Gln1203Lys)
c.3871C>A (p.Gln1291Lys)
c.3877C>A (p.Gln1293Lys)
c.2002C>A (p.Gln668Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315527C=CA1663079739LAMA2c.3607C= (p.Gln1203=)
c.3871C= (p.Gln1291=)
c.3877C= (p.Gln1293=)
c.2002C= (p.Gln668=)
6g.129315527C>GCA365612739LAMA2c.3607C>G (p.Gln1203Glu)
c.3871C>G (p.Gln1291Glu)
c.3877C>G (p.Gln1293Glu)
c.2002C>G (p.Gln668Glu)
6g.129315527C>TCA365612741LAMA2c.3607C>T (p.Gln1203Ter)
c.3871C>T (p.Gln1291Ter)
c.3877C>T (p.Gln1293Ter)
c.2002C>T (p.Gln668Ter)
 ClinVar gnomAD v4
6g.129315528A=CA1663079745LAMA2c.3608A= (p.Gln1203=)
c.3872A= (p.Gln1291=)
c.3878A= (p.Gln1293=)
c.2003A= (p.Gln668=)
6g.129315528A>CCA365612743LAMA2c.3608A>C (p.Gln1203Pro)
c.3872A>C (p.Gln1291Pro)
c.3878A>C (p.Gln1293Pro)
c.2003A>C (p.Gln668Pro)
6g.129315528A>GCA365612744LAMA2c.3608A>G (p.Gln1203Arg)
c.3872A>G (p.Gln1291Arg)
c.3878A>G (p.Gln1293Arg)
c.2003A>G (p.Gln668Arg)
6g.129315528A>TCA365612746LAMA2c.3608A>T (p.Gln1203Leu)
c.3872A>T (p.Gln1291Leu)
c.3878A>T (p.Gln1293Leu)
c.2003A>T (p.Gln668Leu)
 dbSNP
6g.129315529G>ACA451936721LAMA2c.3609G>A (p.Gln1203=)
c.3873G>A (p.Gln1291=)
c.3879G>A (p.Gln1293=)
c.2004G>A (p.Gln668=)
 gnomAD v4
6g.129315529G>CCA365612748LAMA2c.3609G>C (p.Gln1203His)
c.3873G>C (p.Gln1291His)
c.3879G>C (p.Gln1293His)
c.2004G>C (p.Gln668His)
6g.129315529G>TCA365612749LAMA2c.3609G>T (p.Gln1203His)
c.3873G>T (p.Gln1291His)
c.3879G>T (p.Gln1293His)
c.2004G>T (p.Gln668His)
6g.129315530C>ACA365612750LAMA2c.3610C>A (p.His1204Asn)
c.3874C>A (p.His1292Asn)
c.3880C>A (p.His1294Asn)
c.2005C>A (p.His669Asn)
6g.129315530C=CA1663079750LAMA2c.3610C= (p.His1204=)
c.3874C= (p.His1292=)
c.3880C= (p.His1294=)
c.2005C= (p.His669=)
6g.129315530C>GCA365612752LAMA2c.3610C>G (p.His1204Asp)
c.3874C>G (p.His1292Asp)
c.3880C>G (p.His1294Asp)
c.2005C>G (p.His669Asp)
6g.129315530C>TCA3993317LAMA2c.3610C>T (p.His1204Tyr)
c.3874C>T (p.His1292Tyr)
c.3880C>T (p.His1294Tyr)
c.2005C>T (p.His669Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.129315531A>CCA365612754LAMA2c.3611A>C (p.His1204Pro)
c.3875A>C (p.His1292Pro)
c.3881A>C (p.His1294Pro)
c.2006A>C (p.His669Pro)
6g.129315531A>GCA365612756LAMA2c.3611A>G (p.His1204Arg)
c.3875A>G (p.His1292Arg)
c.3881A>G (p.His1294Arg)
c.2006A>G (p.His669Arg)
6g.129315531A>TCA365612757LAMA2c.3611A>T (p.His1204Leu)
c.3875A>T (p.His1292Leu)
c.3881A>T (p.His1294Leu)
c.2006A>T (p.His669Leu)
6g.129315532C>ACA365612759LAMA2c.3612C>A (p.His1204Gln)
c.3876C>A (p.His1292Gln)
c.3882C>A (p.His1294Gln)
c.2007C>A (p.His669Gln)
6g.129315532C>GCA365612760LAMA2c.3612C>G (p.His1204Gln)
c.3876C>G (p.His1292Gln)
c.3882C>G (p.His1294Gln)
c.2007C>G (p.His669Gln)
6g.129315532C>TCA451936722LAMA2c.3612C>T (p.His1204=)
c.3876C>T (p.His1292=)
c.3882C>T (p.His1294=)
c.2007C>T (p.His669=)
 gnomAD v4
6g.129315533A=CA1663079753LAMA2c.3613A= (p.Thr1205=)
c.3877A= (p.Thr1293=)
c.3883A= (p.Thr1295=)
c.2008A= (p.Thr670=)
6g.129315533A>CCA365612762LAMA2c.3613A>C (p.Thr1205Pro)
c.3877A>C (p.Thr1293Pro)
c.3883A>C (p.Thr1295Pro)
c.2008A>C (p.Thr670Pro)
6g.129315533A>GCA153439LAMA2c.3613A>G (p.Thr1205Ala)
c.3877A>G (p.Thr1293Ala)
c.3883A>G (p.Thr1295Ala)
c.2008A>G (p.Thr670Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315533A>TCA365612764LAMA2c.3613A>T (p.Thr1205Ser)
c.3877A>T (p.Thr1293Ser)
c.3883A>T (p.Thr1295Ser)
c.2008A>T (p.Thr670Ser)
6g.129315534C>ACA365612766LAMA2c.3614C>A (p.Thr1205Lys)
c.3878C>A (p.Thr1293Lys)
c.3884C>A (p.Thr1295Lys)
c.2009C>A (p.Thr670Lys)
6g.129315534C=CA1663079762LAMA2c.3614C= (p.Thr1205=)
c.3878C= (p.Thr1293=)
c.3884C= (p.Thr1295=)
c.2009C= (p.Thr670=)
6g.129315534C>GCA365612767LAMA2c.3614C>G (p.Thr1205Arg)
c.3878C>G (p.Thr1293Arg)
c.3884C>G (p.Thr1295Arg)
c.2009C>G (p.Thr670Arg)
 gnomAD v4
6g.129315534C>TCA146913982LAMA2c.3614C>T (p.Thr1205Met)
c.3878C>T (p.Thr1293Met)
c.3884C>T (p.Thr1295Met)
c.2009C>T (p.Thr670Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.129315535G>ACA3993318LAMA2c.3615G>A (p.Thr1205=)
c.3879G>A (p.Thr1293=)
c.3885G>A (p.Thr1295=)
c.2010G>A (p.Thr670=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315535G>CCA451936723LAMA2c.3615G>C (p.Thr1205=)
c.3879G>C (p.Thr1293=)
c.3885G>C (p.Thr1295=)
c.2010G>C (p.Thr670=)
6g.129315535G=CA1663079771LAMA2c.3615G= (p.Thr1205=)
c.3879G= (p.Thr1293=)
c.3885G= (p.Thr1295=)
c.2010G= (p.Thr670=)
6g.129315535G>TCA451936724LAMA2c.3615G>T (p.Thr1205=)
c.3879G>T (p.Thr1293=)
c.3885G>T (p.Thr1295=)
c.2010G>T (p.Thr670=)
 gnomAD v4
6g.129315536A=CA1663079776LAMA2c.3616A= (p.Thr1206=)
c.3880A= (p.Thr1294=)
c.3886A= (p.Thr1296=)
c.2011A= (p.Thr671=)
6g.129315536A>CCA365612771LAMA2c.3616A>C (p.Thr1206Pro)
c.3880A>C (p.Thr1294Pro)
c.3886A>C (p.Thr1296Pro)
c.2011A>C (p.Thr671Pro)
6g.129315536A>GCA3993319LAMA2c.3616A>G (p.Thr1206Ala)
c.3880A>G (p.Thr1294Ala)
c.3886A>G (p.Thr1296Ala)
c.2011A>G (p.Thr671Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315536A>TCA365612770LAMA2c.3616A>T (p.Thr1206Ser)
c.3880A>T (p.Thr1294Ser)
c.3886A>T (p.Thr1296Ser)
c.2011A>T (p.Thr671Ser)
6g.129315537C>ACA365612773LAMA2c.3617C>A (p.Thr1206Asn)
c.3881C>A (p.Thr1294Asn)
c.3887C>A (p.Thr1296Asn)
c.2012C>A (p.Thr671Asn)
6g.129315537C>GCA365612774LAMA2c.3617C>G (p.Thr1206Ser)
c.3881C>G (p.Thr1294Ser)
c.3887C>G (p.Thr1296Ser)
c.2012C>G (p.Thr671Ser)
6g.129315537C>TCA365612775LAMA2c.3617C>T (p.Thr1206Ile)
c.3881C>T (p.Thr1294Ile)
c.3887C>T (p.Thr1296Ile)
c.2012C>T (p.Thr671Ile)
6g.129315538C>ACA451936725LAMA2c.3618C>A (p.Thr1206=)
c.3882C>A (p.Thr1294=)
c.3888C>A (p.Thr1296=)
c.2013C>A (p.Thr671=)
 ClinVar gnomAD v4
6g.129315538C=CA1663079780LAMA2c.3618C= (p.Thr1206=)
c.3882C= (p.Thr1294=)
c.3888C= (p.Thr1296=)
c.2013C= (p.Thr671=)
6g.129315538C>GCA451936726LAMA2c.3618C>G (p.Thr1206=)
c.3882C>G (p.Thr1294=)
c.3888C>G (p.Thr1296=)
c.2013C>G (p.Thr671=)
6g.129315538C>TCA451936727LAMA2c.3618C>T (p.Thr1206=)
c.3882C>T (p.Thr1294=)
c.3888C>T (p.Thr1296=)
c.2013C>T (p.Thr671=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129315539A=CA1663079787LAMA2c.3619A= (p.Thr1207=)
c.3883A= (p.Thr1295=)
c.3889A= (p.Thr1297=)
c.2014A= (p.Thr672=)
6g.129315539A>CCA365612776LAMA2c.3619A>C (p.Thr1207Pro)
c.3883A>C (p.Thr1295Pro)
c.3889A>C (p.Thr1297Pro)
c.2014A>C (p.Thr672Pro)
6g.129315539A>GCA365612778LAMA2c.3619A>G (p.Thr1207Ala)
c.3883A>G (p.Thr1295Ala)
c.3889A>G (p.Thr1297Ala)
c.2014A>G (p.Thr672Ala)
6g.129315539A>TCA365612779LAMA2c.3619A>T (p.Thr1207Ser)
c.3883A>T (p.Thr1295Ser)
c.3889A>T (p.Thr1297Ser)
c.2014A>T (p.Thr672Ser)
 dbSNP gnomAD v4
6g.129315539_129315562delinsACCAAGGGCATTGTTTTTCAACATCA1663079785LAMA2c.3619_3642delinsACCAAGGGCATTGTTTTTCAACAT (p.Thr1207=)
c.3883_3906delinsACCAAGGGCATTGTTTTTCAACAT (p.Thr1295=)
c.3889_3912delinsACCAAGGGCATTGTTTTTCAACAT (p.Thr1297=)
c.2014_2037delinsACCAAGGGCATTGTTTTTCAACAT (p.Thr672=)
6g.129315540C>ACA365612782LAMA2c.3620C>A (p.Thr1207Asn)
c.3884C>A (p.Thr1295Asn)
c.3890C>A (p.Thr1297Asn)
c.2015C>A (p.Thr672Asn)
6g.129315540C>GCA365612784LAMA2c.3620C>G (p.Thr1207Ser)
c.3884C>G (p.Thr1295Ser)
c.3890C>G (p.Thr1297Ser)
c.2015C>G (p.Thr672Ser)
6g.129315540C>TCA365612785LAMA2c.3620C>T (p.Thr1207Ile)
c.3884C>T (p.Thr1295Ile)
c.3890C>T (p.Thr1297Ile)
c.2015C>T (p.Thr672Ile)
 gnomAD v4
6g.129315543_129315565delCA234201LAMA2c.3623_3645del (p.Lys1208ArgfsTer27)
c.3887_3909del (p.Lys1296ArgfsTer27)
c.3893_3915del (p.Lys1298ArgfsTer27)
c.2018_2040del (p.Lys673ArgfsTer27)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315541C>ACA451936728LAMA2c.3621C>A (p.Thr1207=)
c.3885C>A (p.Thr1295=)
c.3891C>A (p.Thr1297=)
c.2016C>A (p.Thr672=)
 ClinVar
6g.129315541C=CA1663079794LAMA2c.3621C= (p.Thr1207=)
c.3885C= (p.Thr1295=)
c.3891C= (p.Thr1297=)
c.2016C= (p.Thr672=)
6g.129315541C>GCA451936729LAMA2c.3621C>G (p.Thr1207=)
c.3885C>G (p.Thr1295=)
c.3891C>G (p.Thr1297=)
c.2016C>G (p.Thr672=)
 gnomAD v4
6g.129315541C>TCA451936730LAMA2c.3621C>T (p.Thr1207=)
c.3885C>T (p.Thr1295=)
c.3891C>T (p.Thr1297=)
c.2016C>T (p.Thr672=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129315542A>CCA365612792LAMA2c.3622A>C (p.Lys1208Gln)
c.3886A>C (p.Lys1296Gln)
c.3892A>C (p.Lys1298Gln)
c.2017A>C (p.Lys673Gln)
6g.129315542A>GCA365612790LAMA2c.3622A>G (p.Lys1208Glu)
c.3886A>G (p.Lys1296Glu)
c.3892A>G (p.Lys1298Glu)
c.2017A>G (p.Lys673Glu)
6g.129315542A>TCA365612789LAMA2c.3622A>T (p.Lys1208Ter)
c.3886A>T (p.Lys1296Ter)
c.3892A>T (p.Lys1298Ter)
c.2017A>T (p.Lys673Ter)
6g.129315543A>CCA365612793LAMA2c.3623A>C (p.Lys1208Thr)
c.3887A>C (p.Lys1296Thr)
c.3893A>C (p.Lys1298Thr)
c.2018A>C (p.Lys673Thr)
6g.129315543A>GCA365612795LAMA2c.3623A>G (p.Lys1208Arg)
c.3887A>G (p.Lys1296Arg)
c.3893A>G (p.Lys1298Arg)
c.2018A>G (p.Lys673Arg)
6g.129315543A>TCA365612796LAMA2c.3623A>T (p.Lys1208Met)
c.3887A>T (p.Lys1296Met)
c.3893A>T (p.Lys1298Met)
c.2018A>T (p.Lys673Met)
6g.129315544G>ACA3993320LAMA2c.3624G>A (p.Lys1208=)
c.3888G>A (p.Lys1296=)
c.3894G>A (p.Lys1298=)
c.2019G>A (p.Lys673=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315544G>CCA365612798LAMA2c.3624G>C (p.Lys1208Asn)
c.3888G>C (p.Lys1296Asn)
c.3894G>C (p.Lys1298Asn)
c.2019G>C (p.Lys673Asn)
6g.129315544G=CA1663079799LAMA2c.3624G= (p.Lys1208=)
c.3888G= (p.Lys1296=)
c.3894G= (p.Lys1298=)
c.2019G= (p.Lys673=)
6g.129315544G>TCA365612800LAMA2c.3624G>T (p.Lys1208Asn)
c.3888G>T (p.Lys1296Asn)
c.3894G>T (p.Lys1298Asn)
c.2019G>T (p.Lys673Asn)
6g.129315546delCA2580074929LAMA2c.3626del (p.Gly1209AlafsTer15)
c.3890del (p.Gly1297AlafsTer15)
c.3896del (p.Gly1299AlafsTer15)
c.2021del (p.Gly674AlafsTer15)
 ClinVar gnomAD v4
6g.129315545G>ACA365612802LAMA2c.3625G>A (p.Gly1209Ser)
c.3889G>A (p.Gly1297Ser)
c.3895G>A (p.Gly1299Ser)
c.2020G>A (p.Gly674Ser)
6g.129315545G>CCA365612803LAMA2c.3625G>C (p.Gly1209Arg)
c.3889G>C (p.Gly1297Arg)
c.3895G>C (p.Gly1299Arg)
c.2020G>C (p.Gly674Arg)
6g.129315545G>TCA365612804LAMA2c.3625G>T (p.Gly1209Cys)
c.3889G>T (p.Gly1297Cys)
c.3895G>T (p.Gly1299Cys)
c.2020G>T (p.Gly674Cys)
6g.129315546G>ACA365612806LAMA2c.3626G>A (p.Gly1209Asp)
c.3890G>A (p.Gly1297Asp)
c.3896G>A (p.Gly1299Asp)
c.2021G>A (p.Gly674Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129315546G>CCA365612808LAMA2c.3626G>C (p.Gly1209Ala)
c.3890G>C (p.Gly1297Ala)
c.3896G>C (p.Gly1299Ala)
c.2021G>C (p.Gly674Ala)
6g.129315546G=CA1663079805LAMA2c.3626G= (p.Gly1209=)
c.3890G= (p.Gly1297=)
c.3896G= (p.Gly1299=)
c.2021G= (p.Gly674=)
6g.129315546G>TCA365612810LAMA2c.3626G>T (p.Gly1209Val)
c.3890G>T (p.Gly1297Val)
c.3896G>T (p.Gly1299Val)
c.2021G>T (p.Gly674Val)
 dbSNP
6g.129315547C>ACA451936731LAMA2c.3627C>A (p.Gly1209=)
c.3891C>A (p.Gly1297=)
c.3897C>A (p.Gly1299=)
c.2022C>A (p.Gly674=)
 dbSNP
6g.129315547C=CA1663079808LAMA2c.3627C= (p.Gly1209=)
c.3891C= (p.Gly1297=)
c.3897C= (p.Gly1299=)
c.2022C= (p.Gly674=)
6g.129315547C>GCA451936732LAMA2c.3627C>G (p.Gly1209=)
c.3891C>G (p.Gly1297=)
c.3897C>G (p.Gly1299=)
c.2022C>G (p.Gly674=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129315547C>TCA451936733LAMA2c.3627C>T (p.Gly1209=)
c.3891C>T (p.Gly1297=)
c.3897C>T (p.Gly1299=)
c.2022C>T (p.Gly674=)
6g.129315548A=CA1663079822LAMA2c.3628A= (p.Ile1210=)
c.3892A= (p.Ile1298=)
c.3898A= (p.Ile1300=)
c.2023A= (p.Ile675=)
6g.129315548A>CCA365612811LAMA2c.3628A>C (p.Ile1210Leu)
c.3892A>C (p.Ile1298Leu)
c.3898A>C (p.Ile1300Leu)
c.2023A>C (p.Ile675Leu)
6g.129315548A>GCA3993321LAMA2c.3628A>G (p.Ile1210Val)
c.3892A>G (p.Ile1298Val)
c.3898A>G (p.Ile1300Val)
c.2023A>G (p.Ile675Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315548A>TCA365612813LAMA2c.3628A>T (p.Ile1210Phe)
c.3892A>T (p.Ile1298Phe)
c.3898A>T (p.Ile1300Phe)
c.2023A>T (p.Ile675Phe)
6g.129315548_129315549delinsATCA1663079817LAMA2c.3628_3629delinsAT (p.Ile1210=)
c.3892_3893delinsAT (p.Ile1298=)
c.3898_3899delinsAT (p.Ile1300=)
c.2023_2024delinsAT (p.Ile675=)
6g.129315549T>ACA365612816LAMA2c.3629T>A (p.Ile1210Asn)
c.3893T>A (p.Ile1298Asn)
c.3899T>A (p.Ile1300Asn)
c.2024T>A (p.Ile675Asn)
 dbSNP
6g.129315549T>CCA365612818LAMA2c.3629T>C (p.Ile1210Thr)
c.3893T>C (p.Ile1298Thr)
c.3899T>C (p.Ile1300Thr)
c.2024T>C (p.Ile675Thr)
6g.129315549T>GCA365612820LAMA2c.3629T>G (p.Ile1210Ser)
c.3893T>G (p.Ile1298Ser)
c.3899T>G (p.Ile1300Ser)
c.2024T>G (p.Ile675Ser)
6g.129315550delCA220761LAMA2c.3630del (p.Ile1210MetfsTer14)
c.3894del (p.Ile1298MetfsTer14)
c.3900del (p.Ile1300MetfsTer14)
c.2025del (p.Ile675MetfsTer14)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129315550T>ACA451936734LAMA2c.3630T>A (p.Ile1210=)
c.3894T>A (p.Ile1298=)
c.3900T>A (p.Ile1300=)
c.2025T>A (p.Ile675=)
6g.129315550T>CCA451936735LAMA2c.3630T>C (p.Ile1210=)
c.3894T>C (p.Ile1298=)
c.3900T>C (p.Ile1300=)
c.2025T>C (p.Ile675=)
6g.129315550T>GCA365612821LAMA2c.3630T>G (p.Ile1210Met)
c.3894T>G (p.Ile1298Met)
c.3900T>G (p.Ile1300Met)
c.2025T>G (p.Ile675Met)
6g.129315551G>ACA365612823LAMA2c.3631G>A (p.Val1211Ile)
c.3895G>A (p.Val1299Ile)
c.3901G>A (p.Val1301Ile)
c.2026G>A (p.Val676Ile)
 gnomAD v4
6g.129315551G>CCA365612825LAMA2c.3631G>C (p.Val1211Leu)
c.3895G>C (p.Val1299Leu)
c.3901G>C (p.Val1301Leu)
c.2026G>C (p.Val676Leu)
6g.129315551G>TCA365612826LAMA2c.3631G>T (p.Val1211Phe)
c.3895G>T (p.Val1299Phe)
c.3901G>T (p.Val1301Phe)
c.2026G>T (p.Val676Phe)
6g.129315551_129315552delinsGTCA1663079836LAMA2c.3631_3632delinsGT (p.Val1211=)
c.3895_3896delinsGT (p.Val1299=)
c.3901_3902delinsGT (p.Val1301=)
c.2026_2027delinsGT (p.Val676=)
6g.129315552T>ACA365612828LAMA2c.3632T>A (p.Val1211Asp)
c.3896T>A (p.Val1299Asp)
c.3902T>A (p.Val1301Asp)
c.2027T>A (p.Val676Asp)
6g.129315552T>CCA365612829LAMA2c.3632T>C (p.Val1211Ala)
c.3896T>C (p.Val1299Ala)
c.3902T>C (p.Val1301Ala)
c.2027T>C (p.Val676Ala)
 COSMIC
6g.129315552T>GCA365612831LAMA2c.3632T>G (p.Val1211Gly)
c.3896T>G (p.Val1299Gly)
c.3902T>G (p.Val1301Gly)
c.2027T>G (p.Val676Gly)
 gnomAD v4
6g.129315556dupCA2680313963LAMA2c.3636dup (p.Gln1213SerfsTer30)
c.3900dup (p.Gln1301SerfsTer30)
c.3906dup (p.Gln1303SerfsTer30)
c.2031dup (p.Gln678SerfsTer30)
 gnomAD v4
6g.129315556delCA16618241LAMA2c.3636del (p.Gln1213AsnfsTer11)
c.3900del (p.Gln1301AsnfsTer11)
c.3906del (p.Gln1303AsnfsTer11)
c.2031del (p.Gln678AsnfsTer11)
 ClinVar dbSNP
6g.129315553T>ACA451936736LAMA2c.3633T>A (p.Val1211=)
c.3897T>A (p.Val1299=)
c.3903T>A (p.Val1301=)
c.2028T>A (p.Val676=)
6g.129315553T>CCA451936738LAMA2c.3633T>C (p.Val1211=)
c.3897T>C (p.Val1299=)
c.3903T>C (p.Val1301=)
c.2028T>C (p.Val676=)
6g.129315553T>GCA451936737LAMA2c.3633T>G (p.Val1211=)
c.3897T>G (p.Val1299=)
c.3903T>G (p.Val1301=)
c.2028T>G (p.Val676=)
6g.129315554T>ACA365612833LAMA2c.3634T>A (p.Phe1212Ile)
c.3898T>A (p.Phe1300Ile)
c.3904T>A (p.Phe1302Ile)
c.2029T>A (p.Phe677Ile)
6g.129315554T>CCA365612834LAMA2c.3634T>C (p.Phe1212Leu)
c.3898T>C (p.Phe1300Leu)
c.3904T>C (p.Phe1302Leu)
c.2029T>C (p.Phe677Leu)
6g.129315554T>GCA365612835LAMA2c.3634T>G (p.Phe1212Val)
c.3898T>G (p.Phe1300Val)
c.3904T>G (p.Phe1302Val)
c.2029T>G (p.Phe677Val)
6g.129315555T>ACA365612840LAMA2c.3635T>A (p.Phe1212Tyr)
c.3899T>A (p.Phe1300Tyr)
c.3905T>A (p.Phe1302Tyr)
c.2030T>A (p.Phe677Tyr)
6g.129315555T>CCA365612837LAMA2c.3635T>C (p.Phe1212Ser)
c.3899T>C (p.Phe1300Ser)
c.3905T>C (p.Phe1302Ser)
c.2030T>C (p.Phe677Ser)
6g.129315555T>GCA365612839LAMA2c.3635T>G (p.Phe1212Cys)
c.3899T>G (p.Phe1300Cys)
c.3905T>G (p.Phe1302Cys)
c.2030T>G (p.Phe677Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129315555T=CA1663079853LAMA2c.3635T= (p.Phe1212=)
c.3899T= (p.Phe1300=)
c.3905T= (p.Phe1302=)
c.2030T= (p.Phe677=)
6g.129315556T>ACA365612842LAMA2c.3636T>A (p.Phe1212Leu)
c.3900T>A (p.Phe1300Leu)
c.3906T>A (p.Phe1302Leu)
c.2031T>A (p.Phe677Leu)
 dbSNP gnomAD v2
6g.129315556T>CCA451936739LAMA2c.3636T>C (p.Phe1212=)
c.3900T>C (p.Phe1300=)
c.3906T>C (p.Phe1302=)
c.2031T>C (p.Phe677=)
6g.129315556T>GCA365612843LAMA2c.3636T>G (p.Phe1212Leu)
c.3900T>G (p.Phe1300Leu)
c.3906T>G (p.Phe1302Leu)
c.2031T>G (p.Phe677Leu)
6g.129315556T=CA1663079858LAMA2c.3636T= (p.Phe1212=)
c.3900T= (p.Phe1300=)
c.3906T= (p.Phe1302=)
c.2031T= (p.Phe677=)
6g.129315557C>ACA365612845LAMA2c.3637C>A (p.Gln1213Lys)
c.3901C>A (p.Gln1301Lys)
c.3907C>A (p.Gln1303Lys)
c.2032C>A (p.Gln678Lys)
 gnomAD v4
6g.129315557C>GCA365612847LAMA2c.3637C>G (p.Gln1213Glu)
c.3901C>G (p.Gln1301Glu)
c.3907C>G (p.Gln1303Glu)
c.2032C>G (p.Gln678Glu)
6g.129315557C>TCA365612848LAMA2c.3637C>T (p.Gln1213Ter)
c.3901C>T (p.Gln1301Ter)
c.3907C>T (p.Gln1303Ter)
c.2032C>T (p.Gln678Ter)
 gnomAD v4
6g.129315558A>CCA365612850LAMA2c.3638A>C (p.Gln1213Pro)
c.3902A>C (p.Gln1301Pro)
c.3908A>C (p.Gln1303Pro)
c.2033A>C (p.Gln678Pro)
6g.129315558A>GCA365612851LAMA2c.3638A>G (p.Gln1213Arg)
c.3902A>G (p.Gln1301Arg)
c.3908A>G (p.Gln1303Arg)
c.2033A>G (p.Gln678Arg)
6g.129315558A>TCA365612853LAMA2c.3638A>T (p.Gln1213Leu)
c.3902A>T (p.Gln1301Leu)
c.3908A>T (p.Gln1303Leu)
c.2033A>T (p.Gln678Leu)
6g.129315559A>CCA365612855LAMA2c.3639A>C (p.Gln1213His)
c.3903A>C (p.Gln1301His)
c.3909A>C (p.Gln1303His)
c.2034A>C (p.Gln678His)
6g.129315559A>GCA451936740LAMA2c.3639A>G (p.Gln1213=)
c.3903A>G (p.Gln1301=)
c.3909A>G (p.Gln1303=)
c.2034A>G (p.Gln678=)
 COSMIC
6g.129315559A>TCA365612856LAMA2c.3639A>T (p.Gln1213His)
c.3903A>T (p.Gln1301His)
c.3909A>T (p.Gln1303His)
c.2034A>T (p.Gln678His)
6g.129315560C>ACA365612861LAMA2c.3640C>A (p.His1214Asn)
c.3904C>A (p.His1302Asn)
c.3910C>A (p.His1304Asn)
c.2035C>A (p.His679Asn)
 gnomAD v4
6g.129315560C=CA1663079861LAMA2c.3640C= (p.His1214=)
c.3904C= (p.His1302=)
c.3910C= (p.His1304=)
c.2035C= (p.His679=)
6g.129315560C>GCA365612860LAMA2c.3640C>G (p.His1214Asp)
c.3904C>G (p.His1302Asp)
c.3910C>G (p.His1304Asp)
c.2035C>G (p.His679Asp)
6g.129315560C>TCA365612858LAMA2c.3640C>T (p.His1214Tyr)
c.3904C>T (p.His1302Tyr)
c.3910C>T (p.His1304Tyr)
c.2035C>T (p.His679Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.129315561A>CCA365612863LAMA2c.3641A>C (p.His1214Pro)
c.3905A>C (p.His1302Pro)
c.3911A>C (p.His1304Pro)
c.2036A>C (p.His679Pro)
6g.129315561A>GCA365612864LAMA2c.3641A>G (p.His1214Arg)
c.3905A>G (p.His1302Arg)
c.3911A>G (p.His1304Arg)
c.2036A>G (p.His679Arg)
 gnomAD v4
6g.129315561A>TCA365612865LAMA2c.3641A>T (p.His1214Leu)
c.3905A>T (p.His1302Leu)
c.3911A>T (p.His1304Leu)
c.2036A>T (p.His679Leu)
6g.129315562T>ACA365612867LAMA2c.3642T>A (p.His1214Gln)
c.3906T>A (p.His1302Gln)
c.3912T>A (p.His1304Gln)
c.2037T>A (p.His679Gln)
6g.129315562T>CCA451936741LAMA2c.3642T>C (p.His1214=)
c.3906T>C (p.His1302=)
c.3912T>C (p.His1304=)
c.2037T>C (p.His679=)
6g.129315562T>GCA365612869LAMA2c.3642T>G (p.His1214Gln)
c.3906T>G (p.His1302Gln)
c.3912T>G (p.His1304Gln)
c.2037T>G (p.His679Gln)
6g.129315563C>ACA365612870LAMA2c.3643C>A (p.Pro1215Thr)
c.3907C>A (p.Pro1303Thr)
c.3913C>A (p.Pro1305Thr)
c.2038C>A (p.Pro680Thr)
6g.129315563C>GCA365612872LAMA2c.3643C>G (p.Pro1215Ala)
c.3907C>G (p.Pro1303Ala)
c.3913C>G (p.Pro1305Ala)
c.2038C>G (p.Pro680Ala)
 gnomAD v4
6g.129315563C>TCA365612873LAMA2c.3643C>T (p.Pro1215Ser)
c.3907C>T (p.Pro1303Ser)
c.3913C>T (p.Pro1305Ser)
c.2038C>T (p.Pro680Ser)
6g.129315564C>ACA365612875LAMA2c.3644C>A (p.Pro1215Gln)
c.3908C>A (p.Pro1303Gln)
c.3914C>A (p.Pro1305Gln)
c.2039C>A (p.Pro680Gln)
6g.129315564C>GCA365612877LAMA2c.3644C>G (p.Pro1215Arg)
c.3908C>G (p.Pro1303Arg)
c.3914C>G (p.Pro1305Arg)
c.2039C>G (p.Pro680Arg)
6g.129315564C>TCA365612878LAMA2c.3644C>T (p.Pro1215Leu)
c.3908C>T (p.Pro1303Leu)
c.3914C>T (p.Pro1305Leu)
c.2039C>T (p.Pro680Leu)
6g.129315565A=CA1663079869LAMA2c.3645A= (p.Pro1215=)
c.3909A= (p.Pro1303=)
c.3915A= (p.Pro1305=)
c.2040A= (p.Pro680=)
6g.129315565A>CCA451936742LAMA2c.3645A>C (p.Pro1215=)
c.3909A>C (p.Pro1303=)
c.3915A>C (p.Pro1305=)
c.2040A>C (p.Pro680=)
6g.129315565A>GCA242502LAMA2c.3645A>G (p.Pro1215=)
c.3909A>G (p.Pro1303=)
c.3915A>G (p.Pro1305=)
c.2040A>G (p.Pro680=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129315565A>TCA451936743LAMA2c.3645A>T (p.Pro1215=)
c.3909A>T (p.Pro1303=)
c.3915A>T (p.Pro1305=)
c.2040A>T (p.Pro680=)
 dbSNP
6g.129315566G>ACA365612883LAMA2c.3646G>A (p.Glu1216Lys)
c.3910G>A (p.Glu1304Lys)
c.3916G>A (p.Glu1306Lys)
c.2041G>A (p.Glu681Lys)
6g.129315566G>CCA365612880LAMA2c.3646G>C (p.Glu1216Gln)
c.3910G>C (p.Glu1304Gln)
c.3916G>C (p.Glu1306Gln)
c.2041G>C (p.Glu681Gln)
6g.129315566G=CA1663079872LAMA2c.3646G= (p.Glu1216=)
c.3910G= (p.Glu1304=)
c.3916G= (p.Glu1306=)
c.2041G= (p.Glu681=)
6g.129315566G>TCA365612882LAMA2c.3646G>T (p.Glu1216Ter)
c.3910G>T (p.Glu1304Ter)
c.3916G>T (p.Glu1306Ter)
c.2041G>T (p.Glu681Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129315567A>CCA365612885LAMA2c.3647A>C (p.Glu1216Ala)
c.3911A>C (p.Glu1304Ala)
c.3917A>C (p.Glu1306Ala)
c.2042A>C (p.Glu681Ala)
6g.129315567A>GCA365612886LAMA2c.3647A>G (p.Glu1216Gly)
c.3911A>G (p.Glu1304Gly)
c.3917A>G (p.Glu1306Gly)
c.2042A>G (p.Glu681Gly)
6g.129315567A>TCA365612887LAMA2c.3647A>T (p.Glu1216Val)
c.3911A>T (p.Glu1304Val)
c.3917A>T (p.Glu1306Val)
c.2042A>T (p.Glu681Val)
6g.129315568G>ACA451936744LAMA2c.3648G>A (p.Glu1216=)
c.3912G>A (p.Glu1304=)
c.3918G>A (p.Glu1306=)
c.2043G>A (p.Glu681=)
6g.129315568G>CCA365612889LAMA2c.3648G>C (p.Glu1216Asp)
c.3912G>C (p.Glu1304Asp)
c.3918G>C (p.Glu1306Asp)
c.2043G>C (p.Glu681Asp)
6g.129315568G>TCA365612891LAMA2c.3648G>T (p.Glu1216Asp)
c.3912G>T (p.Glu1304Asp)
c.3918G>T (p.Glu1306Asp)
c.2043G>T (p.Glu681Asp)
6g.129315569A=CA1663079876LAMA2c.3649A= (p.Ile1217=)
c.3913A= (p.Ile1305=)
c.3919A= (p.Ile1307=)
c.2044A= (p.Ile682=)
6g.129315569A>CCA365612892LAMA2c.3649A>C (p.Ile1217Leu)
c.3913A>C (p.Ile1305Leu)
c.3919A>C (p.Ile1307Leu)
c.2044A>C (p.Ile682Leu)
6g.129315569A>GCA365612894LAMA2c.3649A>G (p.Ile1217Val)
c.3913A>G (p.Ile1305Val)
c.3919A>G (p.Ile1307Val)
c.2044A>G (p.Ile682Val)
 dbSNP gnomAD v3 gnomAD v4
6g.129315569A>TCA365612895LAMA2c.3649A>T (p.Ile1217Phe)
c.3913A>T (p.Ile1305Phe)
c.3919A>T (p.Ile1307Phe)
c.2044A>T (p.Ile682Phe)
6g.129315569_129315571delCA2680313964LAMA2c.3649_3651del (p.Ile1217del)
c.3913_3915del (p.Ile1305del)
c.3919_3921del (p.Ile1307del)
c.2044_2046del (p.Ile682del)
 gnomAD v4
6g.129315570T>ACA365612896LAMA2c.3650T>A (p.Ile1217Asn)
c.3914T>A (p.Ile1305Asn)
c.3920T>A (p.Ile1307Asn)
c.2045T>A (p.Ile682Asn)
6g.129315570T>CCA3993322LAMA2c.3650T>C (p.Ile1217Thr)
c.3914T>C (p.Ile1305Thr)
c.3920T>C (p.Ile1307Thr)
c.2045T>C (p.Ile682Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129315570T>GCA365612897LAMA2c.3650T>G (p.Ile1217Ser)
c.3914T>G (p.Ile1305Ser)
c.3920T>G (p.Ile1307Ser)
c.2045T>G (p.Ile682Ser)
6g.129315570T=CA1663079882LAMA2c.3650T= (p.Ile1217=)
c.3914T= (p.Ile1305=)
c.3920T= (p.Ile1307=)
c.2045T= (p.Ile682=)
6g.129315571delCA2695206985LAMA2c.3651del (p.Ile1217MetfsTer7)
c.3915del (p.Ile1305MetfsTer7)
c.3921del (p.Ile1307MetfsTer7)
c.2046del (p.Ile682MetfsTer7)
6g.129315571T>ACA451936745LAMA2c.3651T>A (p.Ile1217=)
c.3915T>A (p.Ile1305=)
c.3921T>A (p.Ile1307=)
c.2046T>A (p.Ile682=)
 gnomAD v4
6g.129315571T>CCA451936746LAMA2c.3651T>C (p.Ile1217=)
c.3915T>C (p.Ile1305=)
c.3921T>C (p.Ile1307=)
c.2046T>C (p.Ile682=)
6g.129315571T>GCA365612899LAMA2c.3651T>G (p.Ile1217Met)
c.3915T>G (p.Ile1305Met)
c.3921T>G (p.Ile1307Met)
c.2046T>G (p.Ile682Met)
6g.129315572G>ACA365612902LAMA2c.3652G>A (p.Val1218Ile)
c.3916G>A (p.Val1306Ile)
c.3922G>A (p.Val1308Ile)
c.2047G>A (p.Val683Ile)
 dbSNP
6g.129315572G>CCA365612904LAMA2c.3652G>C (p.Val1218Leu)
c.3916G>C (p.Val1306Leu)
c.3922G>C (p.Val1308Leu)
c.2047G>C (p.Val683Leu)
6g.129315572G=CA1663079886LAMA2c.3652G= (p.Val1218=)
c.3916G= (p.Val1306=)
c.3922G= (p.Val1308=)
c.2047G= (p.Val683=)
6g.129315572G>TCA365612901LAMA2c.3652G>T (p.Val1218Phe)
c.3916G>T (p.Val1306Phe)
c.3922G>T (p.Val1308Phe)
c.2047G>T (p.Val683Phe)

Number of alleles fetched