Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
6g.129250201G>CCA365609655LAMA2c.1872G>C (p.Met624Ile)
c.1878G>C (p.Met626Ile)
c.3G>C (p.Met1Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.129250201G=CA1663060504LAMA2c.1872G= (p.Met624=)
c.1878G= (p.Met626=)
c.3G= (p.Met1=)
6g.129250201G>TCA365609656LAMA2c.1872G>T (p.Met624Ile)
c.1878G>T (p.Met626Ile)
c.3G>T (p.Met1Ile)
6g.129250202A=CA1663060508LAMA2c.1873A= (p.Ile625=)
c.1879A= (p.Ile627=)
c.4A= (p.Ile2=)
6g.129250202A>CCA365609657LAMA2c.1873A>C (p.Ile625Leu)
c.1879A>C (p.Ile627Leu)
c.4A>C (p.Ile2Leu)
6g.129250202A>GCA3992762LAMA2c.1873A>G (p.Ile625Val)
c.1879A>G (p.Ile627Val)
c.4A>G (p.Ile2Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129250202A>TCA365609658LAMA2c.1873A>T (p.Ile625Phe)
c.1879A>T (p.Ile627Phe)
c.4A>T (p.Ile2Phe)
 dbSNP gnomAD v3 gnomAD v4
6g.129250203T>ACA365609659LAMA2c.1874T>A (p.Ile625Asn)
c.1880T>A (p.Ile627Asn)
c.5T>A (p.Ile2Asn)
6g.129250203T>CCA146918280LAMA2c.1874T>C (p.Ile625Thr)
c.1880T>C (p.Ile627Thr)
c.5T>C (p.Ile2Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129250203T>GCA365609660LAMA2c.1874T>G (p.Ile625Ser)
c.1880T>G (p.Ile627Ser)
c.5T>G (p.Ile2Ser)
6g.129250203T=CA1663060514LAMA2c.1874T= (p.Ile625=)
c.1880T= (p.Ile627=)
c.5T= (p.Ile2=)
6g.129250204dupCA2773033467LAMA2c.1875dup (p.Ile626TyrfsTer5)
c.1881dup (p.Ile628TyrfsTer5)
c.6dup (p.Ile3TyrfsTer5)
6g.129250204delCA2680304577LAMA2c.1875del (p.Ile626SerfsTer2)
c.1881del (p.Ile628SerfsTer2)
c.6del (p.Ile3SerfsTer2)
 gnomAD v4
6g.129250204T>ACA3992763LAMA2c.1875T>A (p.Ile625=)
c.1881T>A (p.Ile627=)
c.6T>A (p.Ile2=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129250204T>CCA451936443LAMA2c.1875T>C (p.Ile625=)
c.1881T>C (p.Ile627=)
c.6T>C (p.Ile2=)
6g.129250204T>GCA365609661LAMA2c.1875T>G (p.Ile625Met)
c.1881T>G (p.Ile627Met)
c.6T>G (p.Ile2Met)
6g.129250204T=CA1663060520LAMA2c.1875T= (p.Ile625=)
c.1881T= (p.Ile627=)
c.6T= (p.Ile2=)
6g.129250205A>CCA365609662LAMA2c.1876A>C (p.Ile626Leu)
c.1882A>C (p.Ile628Leu)
c.7A>C (p.Ile3Leu)
6g.129250205A>GCA365609663LAMA2c.1876A>G (p.Ile626Val)
c.1882A>G (p.Ile628Val)
c.7A>G (p.Ile3Val)
6g.129250205A>TCA365609664LAMA2c.1876A>T (p.Ile626Phe)
c.1882A>T (p.Ile628Phe)
c.7A>T (p.Ile3Phe)
6g.129250206delCA2573140445LAMA2c.1877del (p.Ile626ThrfsTer2)
c.1883del (p.Ile628ThrfsTer2)
c.8del (p.Ile3ThrfsTer2)
 ClinVar dbSNP
6g.129250206T>ACA365609665LAMA2c.1877T>A (p.Ile626Asn)
c.1883T>A (p.Ile628Asn)
c.8T>A (p.Ile3Asn)
 gnomAD v4
6g.129250206T>CCA365609666LAMA2c.1877T>C (p.Ile626Thr)
c.1883T>C (p.Ile628Thr)
c.8T>C (p.Ile3Thr)
6g.129250206T>GCA365609667LAMA2c.1877T>G (p.Ile626Ser)
c.1883T>G (p.Ile628Ser)
c.8T>G (p.Ile3Ser)
6g.129250207C>ACA451936445LAMA2c.1878C>A (p.Ile626=)
c.1884C>A (p.Ile628=)
c.9C>A (p.Ile3=)
 ClinVar dbSNP gnomAD v4
6g.129250207C=CA1663060525LAMA2c.1878C= (p.Ile626=)
c.1884C= (p.Ile628=)
c.9C= (p.Ile3=)
6g.129250207C>GCA365609668LAMA2c.1878C>G (p.Ile626Met)
c.1884C>G (p.Ile628Met)
c.9C>G (p.Ile3Met)
6g.129250207C>TCA451936446LAMA2c.1878C>T (p.Ile626=)
c.1884C>T (p.Ile628=)
c.9C>T (p.Ile3=)
 dbSNP gnomAD v3 gnomAD v4
6g.129250208T>ACA365609669LAMA2c.1879T>A (p.Leu627Ile)
c.1885T>A (p.Leu629Ile)
c.10T>A (p.Leu4Ile)
6g.129250208T>CCA451936447LAMA2c.1879T>C (p.Leu627=)
c.1885T>C (p.Leu629=)
c.10T>C (p.Leu4=)
 ClinVar gnomAD v4
6g.129250208T>GCA365609670LAMA2c.1879T>G (p.Leu627Val)
c.1885T>G (p.Leu629Val)
c.10T>G (p.Leu4Val)
 COSMIC
6g.129250209delCA2680304578LAMA2c.1880del (p.Leu627Ter)
c.1886del (p.Leu629Ter)
c.11del (p.Leu4Ter)
 gnomAD v4

Number of alleles fetched