Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23898999A=CA2290322257LAMA3c.943A= (p.Asn315=)
c.5770A= (p.Asn1924=)
c.2662A= (p.Asn888=)
n.158A=
c.548A=
n.348A=
c.5797A= (p.Asn1933=)
c.5788A= (p.Asn1930=)
c.5779A= (p.Asn1927=)
c.5665A= (p.Asn1889=)
c.3649A= (p.Asn1217=)
c.1339A= (p.Asn447=)
n.6038A=
18g.23898999A>CCA402046980LAMA3c.943A>C (p.Asn315His)
c.5770A>C (p.Asn1924His)
c.2662A>C (p.Asn888His)
n.158A>C
c.548A>C
n.348A>C
c.5797A>C (p.Asn1933His)
c.5788A>C (p.Asn1930His)
c.5779A>C (p.Asn1927His)
c.5665A>C (p.Asn1889His)
c.3649A>C (p.Asn1217His)
c.1339A>C (p.Asn447His)
n.6038A>C
18g.23898999A>GCA402046982LAMA3c.943A>G (p.Asn315Asp)
c.5770A>G (p.Asn1924Asp)
c.2662A>G (p.Asn888Asp)
n.158A>G
c.548A>G
n.348A>G
c.5797A>G (p.Asn1933Asp)
c.5788A>G (p.Asn1930Asp)
c.5779A>G (p.Asn1927Asp)
c.5665A>G (p.Asn1889Asp)
c.3649A>G (p.Asn1217Asp)
c.1339A>G (p.Asn447Asp)
n.6038A>G
 dbSNP
18g.23898999A>TCA402046981LAMA3c.943A>T (p.Asn315Tyr)
c.5770A>T (p.Asn1924Tyr)
c.2662A>T (p.Asn888Tyr)
n.158A>T
c.548A>T
n.348A>T
c.5797A>T (p.Asn1933Tyr)
c.5788A>T (p.Asn1930Tyr)
c.5779A>T (p.Asn1927Tyr)
c.5665A>T (p.Asn1889Tyr)
c.3649A>T (p.Asn1217Tyr)
c.1339A>T (p.Asn447Tyr)
n.6038A>T
18g.23899000A>CCA402046983LAMA3c.944A>C (p.Asn315Thr)
c.5771A>C (p.Asn1924Thr)
c.2663A>C (p.Asn888Thr)
n.159A>C
c.549A>C
n.349A>C
c.5798A>C (p.Asn1933Thr)
c.5789A>C (p.Asn1930Thr)
c.5780A>C (p.Asn1927Thr)
c.5666A>C (p.Asn1889Thr)
c.3650A>C (p.Asn1217Thr)
c.1340A>C (p.Asn447Thr)
n.6039A>C
18g.23899000A>GCA402046984LAMA3c.944A>G (p.Asn315Ser)
c.5771A>G (p.Asn1924Ser)
c.2663A>G (p.Asn888Ser)
n.159A>G
c.549A>G
n.349A>G
c.5798A>G (p.Asn1933Ser)
c.5789A>G (p.Asn1930Ser)
c.5780A>G (p.Asn1927Ser)
c.5666A>G (p.Asn1889Ser)
c.3650A>G (p.Asn1217Ser)
c.1340A>G (p.Asn447Ser)
n.6039A>G
 gnomAD v4
18g.23899000A>TCA402046985LAMA3c.944A>T (p.Asn315Ile)
c.5771A>T (p.Asn1924Ile)
c.2663A>T (p.Asn888Ile)
n.159A>T
c.549A>T
n.349A>T
c.5798A>T (p.Asn1933Ile)
c.5789A>T (p.Asn1930Ile)
c.5780A>T (p.Asn1927Ile)
c.5666A>T (p.Asn1889Ile)
c.3650A>T (p.Asn1217Ile)
c.1340A>T (p.Asn447Ile)
n.6039A>T
18g.23899001T>ACA402046986LAMA3c.945T>A (p.Asn315Lys)
c.5772T>A (p.Asn1924Lys)
c.2664T>A (p.Asn888Lys)
n.160T>A
c.550T>A
n.350T>A
c.5799T>A (p.Asn1933Lys)
c.5790T>A (p.Asn1930Lys)
c.5781T>A (p.Asn1927Lys)
c.5667T>A (p.Asn1889Lys)
c.3651T>A (p.Asn1217Lys)
c.1341T>A (p.Asn447Lys)
n.6040T>A
18g.23899001T>CCA503522309LAMA3c.945T>C (p.Asn315=)
c.5772T>C (p.Asn1924=)
c.2664T>C (p.Asn888=)
n.160T>C
c.550T>C
n.350T>C
c.5799T>C (p.Asn1933=)
c.5790T>C (p.Asn1930=)
c.5781T>C (p.Asn1927=)
c.5667T>C (p.Asn1889=)
c.3651T>C (p.Asn1217=)
c.1341T>C (p.Asn447=)
n.6040T>C
 dbSNP
18g.23899001T>GCA402046987LAMA3c.945T>G (p.Asn315Lys)
c.5772T>G (p.Asn1924Lys)
c.2664T>G (p.Asn888Lys)
n.160T>G
c.550T>G
n.350T>G
c.5799T>G (p.Asn1933Lys)
c.5790T>G (p.Asn1930Lys)
c.5781T>G (p.Asn1927Lys)
c.5667T>G (p.Asn1889Lys)
c.3651T>G (p.Asn1217Lys)
c.1341T>G (p.Asn447Lys)
n.6040T>G
18g.23899001T=CA2290322258LAMA3c.945T= (p.Asn315=)
c.5772T= (p.Asn1924=)
c.2664T= (p.Asn888=)
n.160T=
c.550T=
n.350T=
c.5799T= (p.Asn1933=)
c.5790T= (p.Asn1930=)
c.5781T= (p.Asn1927=)
c.5667T= (p.Asn1889=)
c.3651T= (p.Asn1217=)
c.1341T= (p.Asn447=)
n.6040T=
18g.23899002C>ACA503522310LAMA3c.946C>A (p.Arg316=)
c.5773C>A (p.Arg1925=)
c.2665C>A (p.Arg889=)
n.161C>A
c.551C>A
n.351C>A
c.5800C>A (p.Arg1934=)
c.5791C>A (p.Arg1931=)
c.5782C>A (p.Arg1928=)
c.5668C>A (p.Arg1890=)
c.3652C>A (p.Arg1218=)
c.1342C>A (p.Arg448=)
n.6041C>A
18g.23899002C=CA2290322259LAMA3c.946C= (p.Arg316=)
c.5773C= (p.Arg1925=)
c.2665C= (p.Arg889=)
n.161C=
c.551C=
n.351C=
c.5800C= (p.Arg1934=)
c.5791C= (p.Arg1931=)
c.5782C= (p.Arg1928=)
c.5668C= (p.Arg1890=)
c.3652C= (p.Arg1218=)
c.1342C= (p.Arg448=)
n.6041C=
18g.23899002C>GCA402046988LAMA3c.946C>G (p.Arg316Gly)
c.5773C>G (p.Arg1925Gly)
c.2665C>G (p.Arg889Gly)
n.161C>G
c.551C>G
n.351C>G
c.5800C>G (p.Arg1934Gly)
c.5791C>G (p.Arg1931Gly)
c.5782C>G (p.Arg1928Gly)
c.5668C>G (p.Arg1890Gly)
c.3652C>G (p.Arg1218Gly)
c.1342C>G (p.Arg448Gly)
n.6041C>G
18g.23899002C>TCA8916166LAMA3c.946C>T (p.Arg316Trp)
c.5773C>T (p.Arg1925Trp)
c.2665C>T (p.Arg889Trp)
n.161C>T
c.551C>T
n.351C>T
c.5800C>T (p.Arg1934Trp)
c.5791C>T (p.Arg1931Trp)
c.5782C>T (p.Arg1928Trp)
c.5668C>T (p.Arg1890Trp)
c.3652C>T (p.Arg1218Trp)
c.1342C>T (p.Arg448Trp)
n.6041C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23899003G>ACA8916167LAMA3c.947G>A (p.Arg316Gln)
c.5774G>A (p.Arg1925Gln)
c.2666G>A (p.Arg889Gln)
n.162G>A
c.552G>A
n.352G>A
c.5801G>A (p.Arg1934Gln)
c.5792G>A (p.Arg1931Gln)
c.5783G>A (p.Arg1928Gln)
c.5669G>A (p.Arg1890Gln)
c.3653G>A (p.Arg1218Gln)
c.1343G>A (p.Arg448Gln)
n.6042G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23899003G>CCA402046990LAMA3c.947G>C (p.Arg316Pro)
c.5774G>C (p.Arg1925Pro)
c.2666G>C (p.Arg889Pro)
n.162G>C
c.552G>C
n.352G>C
c.5801G>C (p.Arg1934Pro)
c.5792G>C (p.Arg1931Pro)
c.5783G>C (p.Arg1928Pro)
c.5669G>C (p.Arg1890Pro)
c.3653G>C (p.Arg1218Pro)
c.1343G>C (p.Arg448Pro)
n.6042G>C
18g.23899003G=CA2290322260LAMA3c.947G= (p.Arg316=)
c.5774G= (p.Arg1925=)
c.2666G= (p.Arg889=)
n.162G=
c.552G=
n.352G=
c.5801G= (p.Arg1934=)
c.5792G= (p.Arg1931=)
c.5783G= (p.Arg1928=)
c.5669G= (p.Arg1890=)
c.3653G= (p.Arg1218=)
c.1343G= (p.Arg448=)
n.6042G=
18g.23899003G>TCA402046989LAMA3c.947G>T (p.Arg316Leu)
c.5774G>T (p.Arg1925Leu)
c.2666G>T (p.Arg889Leu)
n.162G>T
c.552G>T
n.352G>T
c.5801G>T (p.Arg1934Leu)
c.5792G>T (p.Arg1931Leu)
c.5783G>T (p.Arg1928Leu)
c.5669G>T (p.Arg1890Leu)
c.3653G>T (p.Arg1218Leu)
c.1343G>T (p.Arg448Leu)
n.6042G>T
18g.23899005delCA503522311LAMA3c.949del (p.Ala317GlnfsTer10)
c.5776del (p.Ala1926GlnfsTer10)
c.2668del (p.Ala890GlnfsTer10)
n.164del
c.554del
n.354del
c.5803del (p.Ala1935GlnfsTer10)
c.5794del (p.Ala1932GlnfsTer10)
c.5785del (p.Ala1929GlnfsTer10)
c.5671del (p.Ala1891GlnfsTer10)
c.3655del (p.Ala1219GlnfsTer10)
c.1345del (p.Ala449GlnfsTer10)
n.6044del
 COSMIC COSMIC
18g.23899004G>ACA8916168LAMA3c.948G>A (p.Arg316=)
c.5775G>A (p.Arg1925=)
c.2667G>A (p.Arg889=)
n.163G>A
c.553G>A
n.353G>A
c.5802G>A (p.Arg1934=)
c.5793G>A (p.Arg1931=)
c.5784G>A (p.Arg1928=)
c.5670G>A (p.Arg1890=)
c.3654G>A (p.Arg1218=)
c.1344G>A (p.Arg448=)
n.6043G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23899004G>CCA503522313LAMA3c.948G>C (p.Arg316=)
c.5775G>C (p.Arg1925=)
c.2667G>C (p.Arg889=)
n.163G>C
c.553G>C
n.353G>C
c.5802G>C (p.Arg1934=)
c.5793G>C (p.Arg1931=)
c.5784G>C (p.Arg1928=)
c.5670G>C (p.Arg1890=)
c.3654G>C (p.Arg1218=)
c.1344G>C (p.Arg448=)
n.6043G>C
18g.23899004G=CA2290322261LAMA3c.948G= (p.Arg316=)
c.5775G= (p.Arg1925=)
c.2667G= (p.Arg889=)
n.163G=
c.553G=
n.353G=
c.5802G= (p.Arg1934=)
c.5793G= (p.Arg1931=)
c.5784G= (p.Arg1928=)
c.5670G= (p.Arg1890=)
c.3654G= (p.Arg1218=)
c.1344G= (p.Arg448=)
n.6043G=
18g.23899004G>TCA503522312LAMA3c.948G>T (p.Arg316=)
c.5775G>T (p.Arg1925=)
c.2667G>T (p.Arg889=)
n.163G>T
c.553G>T
n.353G>T
c.5802G>T (p.Arg1934=)
c.5793G>T (p.Arg1931=)
c.5784G>T (p.Arg1928=)
c.5670G>T (p.Arg1890=)
c.3654G>T (p.Arg1218=)
c.1344G>T (p.Arg448=)
n.6043G>T
18g.23899005G>ACA402046991LAMA3c.949G>A (p.Ala317Thr)
c.5776G>A (p.Ala1926Thr)
c.2668G>A (p.Ala890Thr)
n.164G>A
c.554G>A
n.354G>A
c.5803G>A (p.Ala1935Thr)
c.5794G>A (p.Ala1932Thr)
c.5785G>A (p.Ala1929Thr)
c.5671G>A (p.Ala1891Thr)
c.3655G>A (p.Ala1219Thr)
c.1345G>A (p.Ala449Thr)
n.6044G>A
 dbSNP gnomAD v2 gnomAD v4
18g.23899005G>CCA402046992LAMA3c.949G>C (p.Ala317Pro)
c.5776G>C (p.Ala1926Pro)
c.2668G>C (p.Ala890Pro)
n.164G>C
c.554G>C
n.354G>C
c.5803G>C (p.Ala1935Pro)
c.5794G>C (p.Ala1932Pro)
c.5785G>C (p.Ala1929Pro)
c.5671G>C (p.Ala1891Pro)
c.3655G>C (p.Ala1219Pro)
c.1345G>C (p.Ala449Pro)
n.6044G>C
18g.23899005G=CA2290322262LAMA3c.949G= (p.Ala317=)
c.5776G= (p.Ala1926=)
c.2668G= (p.Ala890=)
n.164G=
c.554G=
n.354G=
c.5803G= (p.Ala1935=)
c.5794G= (p.Ala1932=)
c.5785G= (p.Ala1929=)
c.5671G= (p.Ala1891=)
c.3655G= (p.Ala1219=)
c.1345G= (p.Ala449=)
n.6044G=
18g.23899005G>TCA402046993LAMA3c.949G>T (p.Ala317Ser)
c.5776G>T (p.Ala1926Ser)
c.2668G>T (p.Ala890Ser)
n.164G>T
c.554G>T
n.354G>T
c.5803G>T (p.Ala1935Ser)
c.5794G>T (p.Ala1932Ser)
c.5785G>T (p.Ala1929Ser)
c.5671G>T (p.Ala1891Ser)
c.3655G>T (p.Ala1219Ser)
c.1345G>T (p.Ala449Ser)
n.6044G>T
18g.23899006C>ACA402046994LAMA3c.950C>A (p.Ala317Glu)
c.5777C>A (p.Ala1926Glu)
c.2669C>A (p.Ala890Glu)
n.165C>A
c.555C>A
n.355C>A
c.5804C>A (p.Ala1935Glu)
c.5795C>A (p.Ala1932Glu)
c.5786C>A (p.Ala1929Glu)
c.5672C>A (p.Ala1891Glu)
c.3656C>A (p.Ala1219Glu)
c.1346C>A (p.Ala449Glu)
n.6045C>A
18g.23899006C>GCA402046995LAMA3c.950C>G (p.Ala317Gly)
c.5777C>G (p.Ala1926Gly)
c.2669C>G (p.Ala890Gly)
n.165C>G
c.555C>G
n.355C>G
c.5804C>G (p.Ala1935Gly)
c.5795C>G (p.Ala1932Gly)
c.5786C>G (p.Ala1929Gly)
c.5672C>G (p.Ala1891Gly)
c.3656C>G (p.Ala1219Gly)
c.1346C>G (p.Ala449Gly)
n.6045C>G
18g.23899006C>TCA402046996LAMA3c.950C>T (p.Ala317Val)
c.5777C>T (p.Ala1926Val)
c.2669C>T (p.Ala890Val)
n.165C>T
c.555C>T
n.355C>T
c.5804C>T (p.Ala1935Val)
c.5795C>T (p.Ala1932Val)
c.5786C>T (p.Ala1929Val)
c.5672C>T (p.Ala1891Val)
c.3656C>T (p.Ala1219Val)
c.1346C>T (p.Ala449Val)
n.6045C>T
18g.23899007A=CA2290322263LAMA3c.951A= (p.Ala317=)
c.5778A= (p.Ala1926=)
c.2670A= (p.Ala890=)
n.166A=
c.556A=
n.356A=
c.5805A= (p.Ala1935=)
c.5796A= (p.Ala1932=)
c.5787A= (p.Ala1929=)
c.5673A= (p.Ala1891=)
c.3657A= (p.Ala1219=)
c.1347A= (p.Ala449=)
n.6046A=
18g.23899007A>CCA8916169LAMA3c.951A>C (p.Ala317=)
c.5778A>C (p.Ala1926=)
c.2670A>C (p.Ala890=)
n.166A>C
c.556A>C
n.356A>C
c.5805A>C (p.Ala1935=)
c.5796A>C (p.Ala1932=)
c.5787A>C (p.Ala1929=)
c.5673A>C (p.Ala1891=)
c.3657A>C (p.Ala1219=)
c.1347A>C (p.Ala449=)
n.6046A>C
 dbSNP ExAC
18g.23899007A>GCA503522314LAMA3c.951A>G (p.Ala317=)
c.5778A>G (p.Ala1926=)
c.2670A>G (p.Ala890=)
n.166A>G
c.556A>G
n.356A>G
c.5805A>G (p.Ala1935=)
c.5796A>G (p.Ala1932=)
c.5787A>G (p.Ala1929=)
c.5673A>G (p.Ala1891=)
c.3657A>G (p.Ala1219=)
c.1347A>G (p.Ala449=)
n.6046A>G
18g.23899007A>TCA503522315LAMA3c.951A>T (p.Ala317=)
c.5778A>T (p.Ala1926=)
c.2670A>T (p.Ala890=)
n.166A>T
c.556A>T
n.356A>T
c.5805A>T (p.Ala1935=)
c.5796A>T (p.Ala1932=)
c.5787A>T (p.Ala1929=)
c.5673A>T (p.Ala1891=)
c.3657A>T (p.Ala1219=)
c.1347A>T (p.Ala449=)
n.6046A>T
18g.23899008A=CA2290322264LAMA3c.952A= (p.Thr318=)
c.5779A= (p.Thr1927=)
c.2671A= (p.Thr891=)
n.167A=
c.557A=
n.357A=
c.5806A= (p.Thr1936=)
c.5797A= (p.Thr1933=)
c.5788A= (p.Thr1930=)
c.5674A= (p.Thr1892=)
c.3658A= (p.Thr1220=)
c.1348A= (p.Thr450=)
n.6047A=
18g.23899008A>CCA402046997LAMA3c.952A>C (p.Thr318Pro)
c.5779A>C (p.Thr1927Pro)
c.2671A>C (p.Thr891Pro)
n.167A>C
c.557A>C
n.357A>C
c.5806A>C (p.Thr1936Pro)
c.5797A>C (p.Thr1933Pro)
c.5788A>C (p.Thr1930Pro)
c.5674A>C (p.Thr1892Pro)
c.3658A>C (p.Thr1220Pro)
c.1348A>C (p.Thr450Pro)
n.6047A>C
 dbSNP
18g.23899008A>GCA402046998LAMA3c.952A>G (p.Thr318Ala)
c.5779A>G (p.Thr1927Ala)
c.2671A>G (p.Thr891Ala)
n.167A>G
c.557A>G
n.357A>G
c.5806A>G (p.Thr1936Ala)
c.5797A>G (p.Thr1933Ala)
c.5788A>G (p.Thr1930Ala)
c.5674A>G (p.Thr1892Ala)
c.3658A>G (p.Thr1220Ala)
c.1348A>G (p.Thr450Ala)
n.6047A>G
18g.23899008A>TCA402046999LAMA3c.952A>T (p.Thr318Ser)
c.5779A>T (p.Thr1927Ser)
c.2671A>T (p.Thr891Ser)
n.167A>T
c.557A>T
n.357A>T
c.5806A>T (p.Thr1936Ser)
c.5797A>T (p.Thr1933Ser)
c.5788A>T (p.Thr1930Ser)
c.5674A>T (p.Thr1892Ser)
c.3658A>T (p.Thr1220Ser)
c.1348A>T (p.Thr450Ser)
n.6047A>T
18g.23899009C>ACA402047001LAMA3c.953C>A (p.Thr318Lys)
c.5780C>A (p.Thr1927Lys)
c.2672C>A (p.Thr891Lys)
n.168C>A
c.558C>A
n.358C>A
c.5807C>A (p.Thr1936Lys)
c.5798C>A (p.Thr1933Lys)
c.5789C>A (p.Thr1930Lys)
c.5675C>A (p.Thr1892Lys)
c.3659C>A (p.Thr1220Lys)
c.1349C>A (p.Thr450Lys)
n.6048C>A
18g.23899009C=CA2290322265LAMA3c.953C= (p.Thr318=)
c.5780C= (p.Thr1927=)
c.2672C= (p.Thr891=)
n.168C=
c.558C=
n.358C=
c.5807C= (p.Thr1936=)
c.5798C= (p.Thr1933=)
c.5789C= (p.Thr1930=)
c.5675C= (p.Thr1892=)
c.3659C= (p.Thr1220=)
c.1349C= (p.Thr450=)
n.6048C=
18g.23899009C>GCA402047000LAMA3c.953C>G (p.Thr318Arg)
c.5780C>G (p.Thr1927Arg)
c.2672C>G (p.Thr891Arg)
n.168C>G
c.558C>G
n.358C>G
c.5807C>G (p.Thr1936Arg)
c.5798C>G (p.Thr1933Arg)
c.5789C>G (p.Thr1930Arg)
c.5675C>G (p.Thr1892Arg)
c.3659C>G (p.Thr1220Arg)
c.1349C>G (p.Thr450Arg)
n.6048C>G
18g.23899009C>TCA8916170LAMA3c.953C>T (p.Thr318Ile)
c.5780C>T (p.Thr1927Ile)
c.2672C>T (p.Thr891Ile)
n.168C>T
c.558C>T
n.358C>T
c.5807C>T (p.Thr1936Ile)
c.5798C>T (p.Thr1933Ile)
c.5789C>T (p.Thr1930Ile)
c.5675C>T (p.Thr1892Ile)
c.3659C>T (p.Thr1220Ile)
c.1349C>T (p.Thr450Ile)
n.6048C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23899010A>CCA503522316LAMA3c.954A>C (p.Thr318=)
c.5781A>C (p.Thr1927=)
c.2673A>C (p.Thr891=)
n.169A>C
c.559A>C
n.359A>C
c.5808A>C (p.Thr1936=)
c.5799A>C (p.Thr1933=)
c.5790A>C (p.Thr1930=)
c.5676A>C (p.Thr1892=)
c.3660A>C (p.Thr1220=)
c.1350A>C (p.Thr450=)
n.6049A>C
18g.23899010A>GCA503522317LAMA3c.954A>G (p.Thr318=)
c.5781A>G (p.Thr1927=)
c.2673A>G (p.Thr891=)
n.169A>G
c.559A>G
n.359A>G
c.5808A>G (p.Thr1936=)
c.5799A>G (p.Thr1933=)
c.5790A>G (p.Thr1930=)
c.5676A>G (p.Thr1892=)
c.3660A>G (p.Thr1220=)
c.1350A>G (p.Thr450=)
n.6049A>G
18g.23899010A>TCA503522318LAMA3c.954A>T (p.Thr318=)
c.5781A>T (p.Thr1927=)
c.2673A>T (p.Thr891=)
n.169A>T
c.559A>T
n.359A>T
c.5808A>T (p.Thr1936=)
c.5799A>T (p.Thr1933=)
c.5790A>T (p.Thr1930=)
c.5676A>T (p.Thr1892=)
c.3660A>T (p.Thr1220=)
c.1350A>T (p.Thr450=)
n.6049A>T
 ClinVar
18g.23899011C>ACA402047002LAMA3c.955C>A (p.Gln319Lys)
c.5782C>A (p.Gln1928Lys)
c.2674C>A (p.Gln892Lys)
n.170C>A
c.560C>A
n.360C>A
c.5809C>A (p.Gln1937Lys)
c.5800C>A (p.Gln1934Lys)
c.5791C>A (p.Gln1931Lys)
c.5677C>A (p.Gln1893Lys)
c.3661C>A (p.Gln1221Lys)
c.1351C>A (p.Gln451Lys)
n.6050C>A
18g.23899011C=CA2290322266LAMA3c.955C= (p.Gln319=)
c.5782C= (p.Gln1928=)
c.2674C= (p.Gln892=)
n.170C=
c.560C=
n.360C=
c.5809C= (p.Gln1937=)
c.5800C= (p.Gln1934=)
c.5791C= (p.Gln1931=)
c.5677C= (p.Gln1893=)
c.3661C= (p.Gln1221=)
c.1351C= (p.Gln451=)
n.6050C=
18g.23899011C>GCA402047003LAMA3c.955C>G (p.Gln319Glu)
c.5782C>G (p.Gln1928Glu)
c.2674C>G (p.Gln892Glu)
n.170C>G
c.560C>G
n.360C>G
c.5809C>G (p.Gln1937Glu)
c.5800C>G (p.Gln1934Glu)
c.5791C>G (p.Gln1931Glu)
c.5677C>G (p.Gln1893Glu)
c.3661C>G (p.Gln1221Glu)
c.1351C>G (p.Gln451Glu)
n.6050C>G
18g.23899011C>TCA402047004LAMA3c.955C>T (p.Gln319Ter)
c.5782C>T (p.Gln1928Ter)
c.2674C>T (p.Gln892Ter)
n.170C>T
c.560C>T
n.360C>T
c.5809C>T (p.Gln1937Ter)
c.5800C>T (p.Gln1934Ter)
c.5791C>T (p.Gln1931Ter)
c.5677C>T (p.Gln1893Ter)
c.3661C>T (p.Gln1221Ter)
c.1351C>T (p.Gln451Ter)
n.6050C>T
 ClinVar dbSNP

Number of alleles fetched