Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129250183_129250190dupCA342966LAMA2c.1854_1861dup (p.Leu621HisfsTer7)
c.1860_1867dup (p.Leu623HisfsTer7)
c.-16_-9dup (n.-16_-9dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129250187G>ACA365609625LAMA2c.1858G>A (p.Val620Ile)
c.1864G>A (p.Val622Ile)
c.-12G>A (n.-12G>A)
 ClinVar dbSNP gnomAD v4
6g.129250187G>CCA365609626LAMA2c.1858G>C (p.Val620Leu)
c.1864G>C (p.Val622Leu)
c.-12G>C (n.-12G>C)
6g.129250187G>TCA365609627LAMA2c.1858G>T (p.Val620Phe)
c.1864G>T (p.Val622Phe)
c.-12G>T (n.-12G>T)
6g.129250188T>ACA365609628LAMA2c.1859T>A (p.Val620Asp)
c.1865T>A (p.Val622Asp)
c.-11T>A (n.-11T>A)
 gnomAD v4
6g.129250188T>CCA365609629LAMA2c.1859T>C (p.Val620Ala)
c.1865T>C (p.Val622Ala)
c.-11T>C (n.-11T>C)
6g.129250188T>GCA365609630LAMA2c.1859T>G (p.Val620Gly)
c.1865T>G (p.Val622Gly)
c.-11T>G (n.-11T>G)
6g.129250189T>ACA451936428LAMA2c.1860T>A (p.Val620=)
c.1866T>A (p.Val622=)
c.-10T>A (n.-10T>A)
6g.129250189T>CCA451936430LAMA2c.1860T>C (p.Val620=)
c.1866T>C (p.Val622=)
c.-10T>C (n.-10T>C)
6g.129250189T>GCA451936431LAMA2c.1860T>G (p.Val620=)
c.1866T>G (p.Val622=)
c.-10T>G (n.-10T>G)
6g.129250190C>ACA365609631LAMA2c.1861C>A (p.Leu621Ile)
c.1867C>A (p.Leu623Ile)
c.-9C>A (n.-9C>A)
 gnomAD v4
6g.129250190C=CA1663060483LAMA2c.1861C= (p.Leu621=)
c.1867C= (p.Leu623=)
c.-9C= (n.-9C=)
6g.129250190C>GCA365609632LAMA2c.1861C>G (p.Leu621Val)
c.1867C>G (p.Leu623Val)
c.-9C>G (n.-9C>G)
 gnomAD v4
6g.129250190C>TCA3992759LAMA2c.1861C>T (p.Leu621Phe)
c.1867C>T (p.Leu623Phe)
c.-9C>T (n.-9C>T)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
6g.129250191T>ACA365609634LAMA2c.1862T>A (p.Leu621His)
c.1868T>A (p.Leu623His)
c.-8T>A (n.-8T>A)
6g.129250191T>CCA365609633LAMA2c.1862T>C (p.Leu621Pro)
c.1868T>C (p.Leu623Pro)
c.-8T>C (n.-8T>C)
6g.129250191T>GCA365609635LAMA2c.1862T>G (p.Leu621Arg)
c.1868T>G (p.Leu623Arg)
c.-8T>G (n.-8T>G)
6g.129250192C>ACA3992760LAMA2c.1863C>A (p.Leu621=)
c.1869C>A (p.Leu623=)
c.-7C>A (n.-7C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129250192C=CA1663060488LAMA2c.1863C= (p.Leu621=)
c.1869C= (p.Leu623=)
c.-7C= (n.-7C=)
6g.129250192C>GCA451936435LAMA2c.1863C>G (p.Leu621=)
c.1869C>G (p.Leu623=)
c.-7C>G (n.-7C>G)
6g.129250192C>TCA451936436LAMA2c.1863C>T (p.Leu621=)
c.1869C>T (p.Leu623=)
c.-7C>T (n.-7C>T)
 ClinVar dbSNP gnomAD v4
6g.129250193C>ACA146918274LAMA2c.1864C>A (p.Gln622Lys)
c.1870C>A (p.Gln624Lys)
c.-6C>A (n.-6C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129250193C=CA1663060493LAMA2c.1864C= (p.Gln622=)
c.1870C= (p.Gln624=)
c.-6C= (n.-6C=)
6g.129250193C>GCA365609636LAMA2c.1864C>G (p.Gln622Glu)
c.1870C>G (p.Gln624Glu)
c.-6C>G (n.-6C>G)
6g.129250193C>TCA365609637LAMA2c.1864C>T (p.Gln622Ter)
c.1870C>T (p.Gln624Ter)
c.-6C>T (n.-6C>T)
 gnomAD v4
6g.129250194A>CCA365609638LAMA2c.1865A>C (p.Gln622Pro)
c.1871A>C (p.Gln624Pro)
c.-5A>C (n.-5A>C)
6g.129250194A>GCA365609639LAMA2c.1865A>G (p.Gln622Arg)
c.1871A>G (p.Gln624Arg)
c.-5A>G (n.-5A>G)
 gnomAD v4
6g.129250194A>TCA365609640LAMA2c.1865A>T (p.Gln622Leu)
c.1871A>T (p.Gln624Leu)
c.-5A>T (n.-5A>T)
6g.129250195G>ACA451936437LAMA2c.1866G>A (p.Gln622=)
c.1872G>A (p.Gln624=)
c.-4G>A (n.-4G>A)
 dbSNP
6g.129250195G>CCA365609641LAMA2c.1866G>C (p.Gln622His)
c.1872G>C (p.Gln624His)
c.-4G>C (n.-4G>C)
6g.129250195G=CA1663060497LAMA2c.1866G= (p.Gln622=)
c.1872G= (p.Gln624=)
c.-4G= (n.-4G=)
6g.129250195G>TCA365609642LAMA2c.1866G>T (p.Gln622His)
c.1872G>T (p.Gln624His)
c.-4G>T (n.-4G>T)
6g.129250196C>ACA365609643LAMA2c.1867C>A (p.Leu623Ile)
c.1873C>A (p.Leu625Ile)
c.-3C>A (n.-3C>A)
 gnomAD v4
6g.129250196C=CA1663060500LAMA2c.1867C= (p.Leu623=)
c.1873C= (p.Leu625=)
c.-3C= (n.-3C=)
6g.129250196C>GCA365609644LAMA2c.1867C>G (p.Leu623Val)
c.1873C>G (p.Leu625Val)
c.-3C>G (n.-3C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129250196C>TCA3992761LAMA2c.1867C>T (p.Leu623Phe)
c.1873C>T (p.Leu625Phe)
c.-3C>T (n.-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129250197T>ACA365609645LAMA2c.1868T>A (p.Leu623His)
c.1874T>A (p.Leu625His)
c.-2T>A (n.-2T>A)
6g.129250197T>CCA365609646LAMA2c.1868T>C (p.Leu623Pro)
c.1874T>C (p.Leu625Pro)
c.-2T>C (n.-2T>C)
 gnomAD v4
6g.129250197T>GCA365609647LAMA2c.1868T>G (p.Leu623Arg)
c.1874T>G (p.Leu625Arg)
c.-2T>G (n.-2T>G)
6g.129250198delCA2680304576LAMA2c.1869del (p.Met624Ter)
c.1875del (p.Met626Ter)
c.-1del (n.-1del)
 gnomAD v4
6g.129250198T>ACA451936439LAMA2c.1869T>A (p.Leu623=)
c.1875T>A (p.Leu625=)
c.-1T>A (n.-1T>A)
6g.129250198T>CCA451936440LAMA2c.1869T>C (p.Leu623=)
c.1875T>C (p.Leu625=)
c.-1T>C (n.-1T>C)
 gnomAD v4
6g.129250198T>GCA451936441LAMA2c.1869T>G (p.Leu623=)
c.1875T>G (p.Leu625=)
c.-1T>G (n.-1T>G)
6g.129250199A>CCA365609650LAMA2c.1870A>C (p.Met624Leu)
c.1876A>C (p.Met626Leu)
c.1A>C (p.Met1Leu)
6g.129250199A>GCA365609648LAMA2c.1870A>G (p.Met624Val)
c.1876A>G (p.Met626Val)
c.1A>G (p.Met1Val)
 gnomAD v4
6g.129250199A>TCA365609649LAMA2c.1870A>T (p.Met624Leu)
c.1876A>T (p.Met626Leu)
c.1A>T (p.Met1Leu)
6g.129250200T>ACA365609651LAMA2c.1871T>A (p.Met624Lys)
c.1877T>A (p.Met626Lys)
c.2T>A (p.Met1Lys)
6g.129250200T>CCA365609652LAMA2c.1871T>C (p.Met624Thr)
c.1877T>C (p.Met626Thr)
c.2T>C (p.Met1Thr)
6g.129250200T>GCA365609653LAMA2c.1871T>G (p.Met624Arg)
c.1877T>G (p.Met626Arg)
c.2T>G (p.Met1Arg)
6g.129250201G>ACA365609654LAMA2c.1872G>A (p.Met624Ile)
c.1878G>A (p.Met626Ile)
c.3G>A (p.Met1Ile)

Number of alleles fetched