Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.65239928G>A | CA385671713 | LEMD3 | c.1922-1G>A (n.1922-1G>A) c.1919-1G>A (n.1919-1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65239928G>C | CA385671710 | LEMD3 | c.1922-1G>C (n.1922-1G>C) c.1919-1G>C (n.1919-1G>C) | |
12 | g.65239928G= | CA2042446378 | LEMD3 | c.1922-1G= (n.1922-1G=) c.1919-1G= (n.1919-1G=) | |
12 | g.65239928G>T | CA385671711 | LEMD3 | c.1922-1G>T (n.1922-1G>T) c.1919-1G>T (n.1919-1G>T) | |
12 | g.65239929G>A | CA385671715 | LEMD3 | c.1922G>A (p.Gly641Asp) c.1919G>A (p.Gly640Asp) | |
12 | g.65239929G>C | CA385671716 | LEMD3 | c.1922G>C (p.Gly641Ala) c.1919G>C (p.Gly640Ala) | |
12 | g.65239929G>T | CA385671718 | LEMD3 | c.1922G>T (p.Gly641Val) c.1919G>T (p.Gly640Val) | |
12 | g.65239930T>A | CA480666205 | LEMD3 | c.1923T>A (p.Gly641=) c.1920T>A (p.Gly640=) | |
12 | g.65239930T>C | CA480666206 | LEMD3 | c.1923T>C (p.Gly641=) c.1920T>C (p.Gly640=) | dbSNP gnomAD v4 |
12 | g.65239930T>G | CA480666207 | LEMD3 | c.1923T>G (p.Gly641=) c.1920T>G (p.Gly640=) | gnomAD v4 |
12 | g.65239930T= | CA2042446383 | LEMD3 | c.1923T= (p.Gly641=) c.1920T= (p.Gly640=) | |
12 | g.65239931G>A | CA385671724 | LEMD3 | c.1924G>A (p.Val642Ile) c.1921G>A (p.Val641Ile) | dbSNP gnomAD v4 |
12 | g.65239931G>C | CA385671722 | LEMD3 | c.1924G>C (p.Val642Leu) c.1921G>C (p.Val641Leu) | |
12 | g.65239931G= | CA2042446389 | LEMD3 | c.1924G= (p.Val642=) c.1921G= (p.Val641=) | |
12 | g.65239931G>T | CA385671720 | LEMD3 | c.1924G>T (p.Val642Leu) c.1921G>T (p.Val641Leu) | |
12 | g.65239932T>A | CA385671726 | LEMD3 | c.1925T>A (p.Val642Glu) c.1922T>A (p.Val641Glu) | |
12 | g.65239932T>C | CA385671728 | LEMD3 | c.1925T>C (p.Val642Ala) c.1922T>C (p.Val641Ala) | gnomAD v4 |
12 | g.65239932T>G | CA385671730 | LEMD3 | c.1925T>G (p.Val642Gly) c.1922T>G (p.Val641Gly) | |
12 | g.65239933A= | CA2042446409 | LEMD3 | c.1926A= (p.Val642=) c.1923A= (p.Val641=) | |
12 | g.65239933A>C | CA480666208 | LEMD3 | c.1926A>C (p.Val642=) c.1923A>C (p.Val641=) | dbSNP |
12 | g.65239933A>G | CA480666209 | LEMD3 | c.1926A>G (p.Val642=) c.1923A>G (p.Val641=) | gnomAD v4 |
12 | g.65239933A>T | CA480666210 | LEMD3 | c.1926A>T (p.Val642=) c.1923A>T (p.Val641=) | |
12 | g.65239934G>A | CA385671732 | LEMD3 | c.1927G>A (p.Val643Met) c.1924G>A (p.Val642Met) | |
12 | g.65239934G>C | CA385671734 | LEMD3 | c.1927G>C (p.Val643Leu) c.1924G>C (p.Val642Leu) | |
12 | g.65239934G>T | CA385671736 | LEMD3 | c.1927G>T (p.Val643Leu) c.1924G>T (p.Val642Leu) | gnomAD v4 |
12 | g.65239935T>A | CA385671738 | LEMD3 | c.1928T>A (p.Val643Glu) c.1925T>A (p.Val642Glu) | |
12 | g.65239935T>C | CA385671742 | LEMD3 | c.1928T>C (p.Val643Ala) c.1925T>C (p.Val642Ala) | |
12 | g.65239935T>G | CA385671740 | LEMD3 | c.1928T>G (p.Val643Gly) c.1925T>G (p.Val642Gly) | |
12 | g.65239936del | CA2726559137 | LEMD3 | c.1929del (p.Met644TrpfsTer9) c.1926del (p.Met643TrpfsTer9) | dbSNP |
12 | g.65239936G>A | CA480666211 | LEMD3 | c.1929G>A (p.Val643=) c.1926G>A (p.Val642=) | |
12 | g.65239936G>C | CA480666212 | LEMD3 | c.1929G>C (p.Val643=) c.1926G>C (p.Val642=) | gnomAD v4 |
12 | g.65239936G>T | CA480666213 | LEMD3 | c.1929G>T (p.Val643=) c.1926G>T (p.Val642=) | |
12 | g.65239937A= | CA2042446428 | LEMD3 | c.1930A= (p.Met644=) c.1927A= (p.Met643=) | |
12 | g.65239937A>C | CA385671744 | LEMD3 | c.1930A>C (p.Met644Leu) c.1927A>C (p.Met643Leu) | |
12 | g.65239937A>G | CA385671746 | LEMD3 | c.1930A>G (p.Met644Val) c.1927A>G (p.Met643Val) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239937A>T | CA385671748 | LEMD3 | c.1930A>T (p.Met644Leu) c.1927A>T (p.Met643Leu) | |
12 | g.65239938T>A | CA385671750 | LEMD3 | c.1931T>A (p.Met644Lys) c.1928T>A (p.Met643Lys) | gnomAD v4 |
12 | g.65239938T>C | CA6671081 | LEMD3 | c.1931T>C (p.Met644Thr) c.1928T>C (p.Met643Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65239938T>G | CA385671753 | LEMD3 | c.1931T>G (p.Met644Arg) c.1928T>G (p.Met643Arg) | |
12 | g.65239938T= | CA2042446435 | LEMD3 | c.1931T= (p.Met644=) c.1928T= (p.Met643=) | |
12 | g.65239939G>A | CA385671754 | LEMD3 | c.1932G>A (p.Met644Ile) c.1929G>A (p.Met643Ile) | |
12 | g.65239939G>C | CA385671756 | LEMD3 | c.1932G>C (p.Met644Ile) c.1929G>C (p.Met643Ile) | |
12 | g.65239939G>T | CA385671758 | LEMD3 | c.1932G>T (p.Met644Ile) c.1929G>T (p.Met643Ile) | gnomAD v4 |
12 | g.65239940G>A | CA6671082 | LEMD3 | c.1933G>A (p.Val645Ile) c.1930G>A (p.Val644Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65239940G>C | CA385671761 | LEMD3 | c.1933G>C (p.Val645Leu) c.1930G>C (p.Val644Leu) | |
12 | g.65239940G= | CA2042446438 | LEMD3 | c.1933G= (p.Val645=) c.1930G= (p.Val644=) | |
12 | g.65239940G>T | CA385671763 | LEMD3 | c.1933G>T (p.Val645Phe) c.1930G>T (p.Val644Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.65239941T>A | CA385671768 | LEMD3 | c.1934T>A (p.Val645Asp) c.1931T>A (p.Val644Asp) | |
12 | g.65239941T>C | CA385671770 | LEMD3 | c.1934T>C (p.Val645Ala) c.1931T>C (p.Val644Ala) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239941T>G | CA385671766 | LEMD3 | c.1934T>G (p.Val645Gly) c.1931T>G (p.Val644Gly) | |
12 | g.65239941T= | CA2042446441 | LEMD3 | c.1934T= (p.Val645=) c.1931T= (p.Val644=) | |
12 | g.65239942T>A | CA480666216 | LEMD3 | c.1935T>A (p.Val645=) c.1932T>A (p.Val644=) | |
12 | g.65239942T>C | CA480666217 | LEMD3 | c.1935T>C (p.Val645=) c.1932T>C (p.Val644=) | |
12 | g.65239942T>G | CA480666218 | LEMD3 | c.1935T>G (p.Val645=) c.1932T>G (p.Val644=) | |
12 | g.65239943T>A | CA385671772 | LEMD3 | c.1936T>A (p.Cys646Ser) c.1933T>A (p.Cys645Ser) | |
12 | g.65239943T>C | CA385671776 | LEMD3 | c.1936T>C (p.Cys646Arg) c.1933T>C (p.Cys645Arg) | |
12 | g.65239943T>G | CA385671774 | LEMD3 | c.1936T>G (p.Cys646Gly) c.1933T>G (p.Cys645Gly) | |
12 | g.65239944G>A | CA385671778 | LEMD3 | c.1937G>A (p.Cys646Tyr) c.1934G>A (p.Cys645Tyr) | |
12 | g.65239944G>C | CA385671780 | LEMD3 | c.1937G>C (p.Cys646Ser) c.1934G>C (p.Cys645Ser) | gnomAD v4 |
12 | g.65239944G>T | CA385671782 | LEMD3 | c.1937G>T (p.Cys646Phe) c.1934G>T (p.Cys645Phe) | |
12 | g.65239945T>A | CA385671784 | LEMD3 | c.1938T>A (p.Cys646Ter) c.1935T>A (p.Cys645Ter) | |
12 | g.65239945T>C | CA480666219 | LEMD3 | c.1938T>C (p.Cys646=) c.1935T>C (p.Cys645=) | |
12 | g.65239945T>G | CA385671786 | LEMD3 | c.1938T>G (p.Cys646Trp) c.1935T>G (p.Cys645Trp) | |
12 | g.65239946G>A | CA385671787 | LEMD3 | c.1939G>A (p.Val647Ile) c.1936G>A (p.Val646Ile) | |
12 | g.65239946G>C | CA385671788 | LEMD3 | c.1939G>C (p.Val647Leu) c.1936G>C (p.Val646Leu) | |
12 | g.65239946G>T | CA385671791 | LEMD3 | c.1939G>T (p.Val647Phe) c.1936G>T (p.Val646Phe) | |
12 | g.65239947T>A | CA385671793 | LEMD3 | c.1940T>A (p.Val647Asp) c.1937T>A (p.Val646Asp) | |
12 | g.65239947T>C | CA385671795 | LEMD3 | c.1940T>C (p.Val647Ala) c.1937T>C (p.Val646Ala) | |
12 | g.65239947T>G | CA385671797 | LEMD3 | c.1940T>G (p.Val647Gly) c.1937T>G (p.Val646Gly) | |
12 | g.65239948C>A | CA480666222 | LEMD3 | c.1941C>A (p.Val647=) c.1938C>A (p.Val646=) | gnomAD v4 |
12 | g.65239948C= | CA2042446446 | LEMD3 | c.1941C= (p.Val647=) c.1938C= (p.Val646=) | |
12 | g.65239948C>G | CA6671083 | LEMD3 | c.1941C>G (p.Val647=) c.1938C>G (p.Val646=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65239948C>T | CA480666221 | LEMD3 | c.1941C>T (p.Val647=) c.1938C>T (p.Val646=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65239949G>A | CA385671804 | LEMD3 | c.1942G>A (p.Val648Ile) c.1939G>A (p.Val647Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65239949G>C | CA385671800 | LEMD3 | c.1942G>C (p.Val648Leu) c.1939G>C (p.Val647Leu) | |
12 | g.65239949G= | CA2042446461 | LEMD3 | c.1942G= (p.Val648=) c.1939G= (p.Val647=) | |
12 | g.65239949G>T | CA385671802 | LEMD3 | c.1942G>T (p.Val648Phe) c.1939G>T (p.Val647Phe) | |
12 | g.65239950T>A | CA385671807 | LEMD3 | c.1943T>A (p.Val648Asp) c.1940T>A (p.Val647Asp) | |
12 | g.65239950T>C | CA385671808 | LEMD3 | c.1943T>C (p.Val648Ala) c.1940T>C (p.Val647Ala) | ClinVar dbSNP |
12 | g.65239950T>G | CA385671810 | LEMD3 | c.1943T>G (p.Val648Gly) c.1940T>G (p.Val647Gly) | |
12 | g.65239950T= | CA2042446464 | LEMD3 | c.1943T= (p.Val648=) c.1940T= (p.Val647=) | |
12 | g.65239951T>A | CA480666223 | LEMD3 | c.1944T>A (p.Val648=) c.1941T>A (p.Val647=) | |
12 | g.65239951T>C | CA480666225 | LEMD3 | c.1944T>C (p.Val648=) c.1941T>C (p.Val647=) | |
12 | g.65239951T>G | CA480666224 | LEMD3 | c.1944T>G (p.Val648=) c.1941T>G (p.Val647=) | |
12 | g.65239952C>A | CA385671812 | LEMD3 | c.1945C>A (p.Leu649Met) c.1942C>A (p.Leu648Met) | |
12 | g.65239952C>G | CA385671814 | LEMD3 | c.1945C>G (p.Leu649Val) c.1942C>G (p.Leu648Val) | |
12 | g.65239952C>T | CA480666227 | LEMD3 | c.1945C>T (p.Leu649=) c.1942C>T (p.Leu648=) | gnomAD v4 |
12 | g.65239952dup | CA2619669570 | LEMD3 | c.1945dup (p.Leu649ProfsTer20) c.1942dup (p.Leu648ProfsTer20) | gnomAD v4 |
12 | g.65239953T>A | CA385671817 | LEMD3 | c.1946T>A (p.Leu649Gln) c.1943T>A (p.Leu648Gln) | |
12 | g.65239953T>C | CA385671818 | LEMD3 | c.1946T>C (p.Leu649Pro) c.1943T>C (p.Leu648Pro) | |
12 | g.65239953T>G | CA385671820 | LEMD3 | c.1946T>G (p.Leu649Arg) c.1943T>G (p.Leu648Arg) | |
12 | g.65239954G>A | CA480666228 | LEMD3 | c.1947G>A (p.Leu649=) c.1944G>A (p.Leu648=) | COSMIC |
12 | g.65239954G>C | CA480666229 | LEMD3 | c.1947G>C (p.Leu649=) c.1944G>C (p.Leu648=) | |
12 | g.65239954G>T | CA480666230 | LEMD3 | c.1947G>T (p.Leu649=) c.1944G>T (p.Leu648=) | |
12 | g.65239955C>A | CA238915173 | LEMD3 | c.1948C>A (p.Arg650Ser) c.1945C>A (p.Arg649Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.65239955C= | CA2042446469 | LEMD3 | c.1948C= (p.Arg650=) c.1945C= (p.Arg649=) | |
12 | g.65239955C>G | CA385671823 | LEMD3 | c.1948C>G (p.Arg650Gly) c.1945C>G (p.Arg649Gly) | ClinVar |
12 | g.65239955C>T | CA385671825 | LEMD3 | c.1948C>T (p.Arg650Cys) c.1945C>T (p.Arg649Cys) | gnomAD v4 |
12 | g.65239956G>A | CA6671084 | LEMD3 | c.1949G>A (p.Arg650His) c.1946G>A (p.Arg649His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65239956G>C | CA385671828 | LEMD3 | c.1949G>C (p.Arg650Pro) c.1946G>C (p.Arg649Pro) | |
12 | g.65239956G= | CA2042446472 | LEMD3 | c.1949G= (p.Arg650=) c.1946G= (p.Arg649=) | |
12 | g.65239956G>T | CA385671827 | LEMD3 | c.1949G>T (p.Arg650Leu) c.1946G>T (p.Arg649Leu) | |
12 | g.65239957T>A | CA480666231 | LEMD3 | c.1950T>A (p.Arg650=) c.1947T>A (p.Arg649=) | |
12 | g.65239957T>C | CA480666232 | LEMD3 | c.1950T>C (p.Arg650=) c.1947T>C (p.Arg649=) | |
12 | g.65239957T>G | CA480666233 | LEMD3 | c.1950T>G (p.Arg650=) c.1947T>G (p.Arg649=) | |
12 | g.65239958T>A | CA385671830 | LEMD3 | c.1951T>A (p.Tyr651Asn) c.1948T>A (p.Tyr650Asn) | |
12 | g.65239958T>C | CA385671832 | LEMD3 | c.1951T>C (p.Tyr651His) c.1948T>C (p.Tyr650His) | |
12 | g.65239958T>G | CA6671085 | LEMD3 | c.1951T>G (p.Tyr651Asp) c.1948T>G (p.Tyr650Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65239958T= | CA2042446478 | LEMD3 | c.1951T= (p.Tyr651=) c.1948T= (p.Tyr650=) | |
12 | g.65239959A>C | CA385671835 | LEMD3 | c.1952A>C (p.Tyr651Ser) c.1949A>C (p.Tyr650Ser) | |
12 | g.65239959A>G | CA385671837 | LEMD3 | c.1952A>G (p.Tyr651Cys) c.1949A>G (p.Tyr650Cys) | |
12 | g.65239959A>T | CA385671839 | LEMD3 | c.1952A>T (p.Tyr651Phe) c.1949A>T (p.Tyr650Phe) | |
12 | g.65239960del | CA2575215403 | LEMD3 | c.1953del (p.Tyr651Ter) c.1950del (p.Tyr650Ter) | gnomAD v4 |
12 | g.65239960C>A | CA385671843 | LEMD3 | c.1953C>A (p.Tyr651Ter) c.1950C>A (p.Tyr650Ter) | |
12 | g.65239960C>G | CA385671841 | LEMD3 | c.1953C>G (p.Tyr651Ter) c.1950C>G (p.Tyr650Ter) | |
12 | g.65239960C>T | CA480666234 | LEMD3 | c.1953C>T (p.Tyr651=) c.1950C>T (p.Tyr650=) | gnomAD v4 |
12 | g.65239961A= | CA2042446487 | LEMD3 | c.1954A= (p.Met652=) c.1951A= (p.Met651=) | |
12 | g.65239961A>C | CA385671845 | LEMD3 | c.1954A>C (p.Met652Leu) c.1951A>C (p.Met651Leu) | |
12 | g.65239961A>G | CA385671846 | LEMD3 | c.1954A>G (p.Met652Val) c.1951A>G (p.Met651Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239961A>T | CA385671848 | LEMD3 | c.1954A>T (p.Met652Leu) c.1951A>T (p.Met651Leu) | |
12 | g.65239962T>A | CA385671850 | LEMD3 | c.1955T>A (p.Met652Lys) c.1952T>A (p.Met651Lys) | |
12 | g.65239962T>C | CA385671852 | LEMD3 | c.1955T>C (p.Met652Thr) c.1952T>C (p.Met651Thr) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65239962T>G | CA385671854 | LEMD3 | c.1955T>G (p.Met652Arg) c.1952T>G (p.Met651Arg) | gnomAD v4 |
12 | g.65239962T= | CA2042446493 | LEMD3 | c.1955T= (p.Met652=) c.1952T= (p.Met651=) | |
12 | g.65239963G>A | CA6671086 | LEMD3 | c.1956G>A (p.Met652Ile) c.1953G>A (p.Met651Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65239963G>C | CA385671859 | LEMD3 | c.1956G>C (p.Met652Ile) c.1953G>C (p.Met651Ile) | |
12 | g.65239963G= | CA2042446497 | LEMD3 | c.1956G= (p.Met652=) c.1953G= (p.Met651=) | |
12 | g.65239963G>T | CA385671857 | LEMD3 | c.1956G>T (p.Met652Ile) c.1953G>T (p.Met651Ile) | |
12 | g.65239964A>C | CA385671861 | LEMD3 | c.1957A>C (p.Lys653Gln) c.1954A>C (p.Lys652Gln) | |
12 | g.65239964A>G | CA385671862 | LEMD3 | c.1957A>G (p.Lys653Glu) c.1954A>G (p.Lys652Glu) | |
12 | g.65239964A>T | CA385671864 | LEMD3 | c.1957A>T (p.Lys653Ter) c.1954A>T (p.Lys652Ter) | |
12 | g.65239965A>C | CA385671865 | LEMD3 | c.1958A>C (p.Lys653Thr) c.1955A>C (p.Lys652Thr) | dbSNP |
12 | g.65239965A>G | CA385671866 | LEMD3 | c.1958A>G (p.Lys653Arg) c.1955A>G (p.Lys652Arg) | |
12 | g.65239965A>T | CA385671868 | LEMD3 | c.1958A>T (p.Lys653Ile) c.1955A>T (p.Lys652Ile) | |
12 | g.65239966A= | CA2042446511 | LEMD3 | c.1959A= (p.Lys653=) c.1956A= (p.Lys652=) | |
12 | g.65239966A>C | CA385671870 | LEMD3 | c.1959A>C (p.Lys653Asn) c.1956A>C (p.Lys652Asn) | |
12 | g.65239966A>G | CA480666237 | LEMD3 | c.1959A>G (p.Lys653=) c.1956A>G (p.Lys652=) | dbSNP |
12 | g.65239966A>T | CA385671871 | LEMD3 | c.1959A>T (p.Lys653Asn) c.1956A>T (p.Lys652Asn) | |
12 | g.65239967T>A | CA385671874 | LEMD3 | c.1960T>A (p.Tyr654Asn) c.1957T>A (p.Tyr653Asn) | |
12 | g.65239967T>C | CA385671875 | LEMD3 | c.1960T>C (p.Tyr654His) c.1957T>C (p.Tyr653His) | |
12 | g.65239967T>G | CA385671876 | LEMD3 | c.1960T>G (p.Tyr654Asp) c.1957T>G (p.Tyr653Asp) | |
12 | g.65239968A>C | CA385671880 | LEMD3 | c.1961A>C (p.Tyr654Ser) c.1958A>C (p.Tyr653Ser) | |
12 | g.65239968A>G | CA385671882 | LEMD3 | c.1961A>G (p.Tyr654Cys) c.1958A>G (p.Tyr653Cys) | |
12 | g.65239968A>T | CA385671878 | LEMD3 | c.1961A>T (p.Tyr654Phe) c.1958A>T (p.Tyr653Phe) | |
12 | g.65239969T>A | CA385671887 | LEMD3 | c.1962T>A (p.Tyr654Ter) c.1959T>A (p.Tyr653Ter) | |
12 | g.65239969T>C | CA480666238 | LEMD3 | c.1962T>C (p.Tyr654=) c.1959T>C (p.Tyr653=) | gnomAD v4 |
12 | g.65239969T>G | CA385671885 | LEMD3 | c.1962T>G (p.Tyr654Ter) c.1959T>G (p.Tyr653Ter) | |
12 | g.65239970C>A | CA480666239 | LEMD3 | c.1963C>A (p.Arg655=) c.1960C>A (p.Arg654=) | |
12 | g.65239970C= | CA2042446523 | LEMD3 | c.1963C= (p.Arg655=) c.1960C= (p.Arg654=) | |
12 | g.65239970C>G | CA385671889 | LEMD3 | c.1963C>G (p.Arg655Gly) c.1960C>G (p.Arg654Gly) | |
12 | g.65239970C>T | CA115738 | LEMD3 | c.1963C>T (p.Arg655Ter) c.1960C>T (p.Arg654Ter) | ClinVar dbSNP gnomAD v4 |
12 | g.65239971G>A | CA6671087 | LEMD3 | c.1964G>A (p.Arg655Gln) c.1961G>A (p.Arg654Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65239971G>C | CA385671892 | LEMD3 | c.1964G>C (p.Arg655Pro) c.1961G>C (p.Arg654Pro) | |
12 | g.65239971G= | CA2042446534 | LEMD3 | c.1964G= (p.Arg655=) c.1961G= (p.Arg654=) | |
12 | g.65239971G>T | CA385671894 | LEMD3 | c.1964G>T (p.Arg655Leu) c.1961G>T (p.Arg654Leu) | |
12 | g.65239972A>C | CA480666240 | LEMD3 | c.1965A>C (p.Arg655=) c.1962A>C (p.Arg654=) | |
12 | g.65239972A>G | CA480666241 | LEMD3 | c.1965A>G (p.Arg655=) c.1962A>G (p.Arg654=) | gnomAD v4 |
12 | g.65239972A>T | CA480666242 | LEMD3 | c.1965A>T (p.Arg655=) c.1962A>T (p.Arg654=) | |
12 | g.65239973T>A | CA385671896 | LEMD3 | c.1966T>A (p.Trp656Arg) c.1963T>A (p.Trp655Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239973T>C | CA385671900 | LEMD3 | c.1966T>C (p.Trp656Arg) c.1963T>C (p.Trp655Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239973T>G | CA385671898 | LEMD3 | c.1966T>G (p.Trp656Gly) c.1963T>G (p.Trp655Gly) | |
12 | g.65239973T= | CA2042446540 | LEMD3 | c.1966T= (p.Trp656=) c.1963T= (p.Trp655=) | |
12 | g.65239974G>A | CA385671902 | LEMD3 | c.1967G>A (p.Trp656Ter) c.1964G>A (p.Trp655Ter) | |
12 | g.65239974G>C | CA385671903 | LEMD3 | c.1967G>C (p.Trp656Ser) c.1964G>C (p.Trp655Ser) | |
12 | g.65239974G>T | CA385671904 | LEMD3 | c.1967G>T (p.Trp656Leu) c.1964G>T (p.Trp655Leu) | |
12 | g.65239975del | CA2575215404 | LEMD3 | c.1968del (p.Trp656Ter) c.1965del (p.Trp655Ter) | |
12 | g.65239975G>A | CA385671907 | LEMD3 | c.1968G>A (p.Trp656Ter) c.1965G>A (p.Trp655Ter) | |
12 | g.65239975G>C | CA385671909 | LEMD3 | c.1968G>C (p.Trp656Cys) c.1965G>C (p.Trp655Cys) | |
12 | g.65239975G>T | CA385671910 | LEMD3 | c.1968G>T (p.Trp656Cys) c.1965G>T (p.Trp655Cys) | |
12 | g.65239976A>C | CA385671914 | LEMD3 | c.1969A>C (p.Thr657Pro) c.1966A>C (p.Thr656Pro) | |
12 | g.65239976A>G | CA385671913 | LEMD3 | c.1969A>G (p.Thr657Ala) c.1966A>G (p.Thr656Ala) | |
12 | g.65239976A>T | CA385671912 | LEMD3 | c.1969A>T (p.Thr657Ser) c.1966A>T (p.Thr656Ser) | |
12 | g.65239977C>A | CA385671916 | LEMD3 | c.1970C>A (p.Thr657Lys) c.1967C>A (p.Thr656Lys) | dbSNP gnomAD v4 |
12 | g.65239977C= | CA2042446544 | LEMD3 | c.1970C= (p.Thr657=) c.1967C= (p.Thr656=) | |
12 | g.65239977C>G | CA385671918 | LEMD3 | c.1970C>G (p.Thr657Arg) c.1967C>G (p.Thr656Arg) | |
12 | g.65239977C>T | CA385671919 | LEMD3 | c.1970C>T (p.Thr657Ile) c.1967C>T (p.Thr656Ile) | |
12 | g.65239978A= | CA2042446552 | LEMD3 | c.1971A= (p.Thr657=) c.1968A= (p.Thr656=) | |
12 | g.65239978A>C | CA480666243 | LEMD3 | c.1971A>C (p.Thr657=) c.1968A>C (p.Thr656=) | |
12 | g.65239978A>G | CA480666246 | LEMD3 | c.1971A>G (p.Thr657=) c.1968A>G (p.Thr656=) | dbSNP |
12 | g.65239978A>T | CA480666244 | LEMD3 | c.1971A>T (p.Thr657=) c.1968A>T (p.Thr656=) | |
12 | g.65239979_65239981del | CA2619669571 | LEMD3 | c.1972_1974del (p.Lys658del) c.1969_1971del (p.Lys657del) | gnomAD v4 |
12 | g.65239979A>C | CA385671921 | LEMD3 | c.1972A>C (p.Lys658Gln) c.1969A>C (p.Lys657Gln) | |
12 | g.65239979A>G | CA385671923 | LEMD3 | c.1972A>G (p.Lys658Glu) c.1969A>G (p.Lys657Glu) | |
12 | g.65239979A>T | CA385671924 | LEMD3 | c.1972A>T (p.Lys658Ter) c.1969A>T (p.Lys657Ter) | |
12 | g.65239979_65239982delinsAAAG | CA2042446559 | LEMD3 | c.1972_1975delinsAAAG (p.Lys658=) c.1969_1972delinsAAAG (p.Lys657=) | |
12 | g.65239980A>C | CA385671930 | LEMD3 | c.1973A>C (p.Lys658Thr) c.1970A>C (p.Lys657Thr) | COSMIC |
12 | g.65239980A>G | CA385671927 | LEMD3 | c.1973A>G (p.Lys658Arg) c.1970A>G (p.Lys657Arg) | |
12 | g.65239980A>T | CA385671929 | LEMD3 | c.1973A>T (p.Lys658Ile) c.1970A>T (p.Lys657Ile) | |
12 | g.65239984_65239986del | CA691028971 | LEMD3 | c.1977_1979del (p.Glu660del) c.1974_1976del (p.Glu659del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65239981A>C | CA385671932 | LEMD3 | c.1974A>C (p.Lys658Asn) c.1971A>C (p.Lys657Asn) | |
12 | g.65239981A>G | CA480666247 | LEMD3 | c.1974A>G (p.Lys658=) c.1971A>G (p.Lys657=) | |
12 | g.65239981A>T | CA385671933 | LEMD3 | c.1974A>T (p.Lys658Asn) c.1971A>T (p.Lys657Asn) | |
12 | g.65239982G>A | CA385671936 | LEMD3 | c.1975G>A (p.Glu659Lys) c.1972G>A (p.Glu658Lys) | |
12 | g.65239982G>C | CA385671937 | LEMD3 | c.1975G>C (p.Glu659Gln) c.1972G>C (p.Glu658Gln) | |
12 | g.65239982G>T | CA385671939 | LEMD3 | c.1975G>T (p.Glu659Ter) c.1972G>T (p.Glu658Ter) | |
12 | g.65239983A>C | CA385671941 | LEMD3 | c.1976A>C (p.Glu659Ala) c.1973A>C (p.Glu658Ala) | |
12 | g.65239983A>G | CA385671943 | LEMD3 | c.1976A>G (p.Glu659Gly) c.1973A>G (p.Glu658Gly) | |
12 | g.65239983A>T | CA385671946 | LEMD3 | c.1976A>T (p.Glu659Val) c.1973A>T (p.Glu658Val) | |
12 | g.65239984del | CA2575215405 | LEMD3 | c.1977del (p.Glu660ArgfsTer12) c.1974del (p.Glu659ArgfsTer12) | |
12 | g.65239984A= | CA2042446566 | LEMD3 | c.1977A= (p.Glu659=) c.1974A= (p.Glu658=) | |
12 | g.65239984A>C | CA238915174 | LEMD3 | c.1977A>C (p.Glu659Asp) c.1974A>C (p.Glu658Asp) | dbSNP gnomAD v4 |
12 | g.65239984A>G | CA480666248 | LEMD3 | c.1977A>G (p.Glu659=) c.1974A>G (p.Glu658=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65239984A>T | CA385671948 | LEMD3 | c.1977A>T (p.Glu659Asp) c.1974A>T (p.Glu658Asp) | |
12 | g.65239985G>A | CA385671951 | LEMD3 | c.1978G>A (p.Glu660Lys) c.1975G>A (p.Glu659Lys) | |
12 | g.65239985G>C | CA385671952 | LEMD3 | c.1978G>C (p.Glu660Gln) c.1975G>C (p.Glu659Gln) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239985G= | CA2042446571 | LEMD3 | c.1978G= (p.Glu660=) c.1975G= (p.Glu659=) | |
12 | g.65239985G>T | CA385671954 | LEMD3 | c.1978G>T (p.Glu660Ter) c.1975G>T (p.Glu659Ter) | dbSNP |
12 | g.65239986A>C | CA385671956 | LEMD3 | c.1979A>C (p.Glu660Ala) c.1976A>C (p.Glu659Ala) | |
12 | g.65239986A>G | CA385671960 | LEMD3 | c.1979A>G (p.Glu660Gly) c.1976A>G (p.Glu659Gly) | |
12 | g.65239986A>T | CA385671958 | LEMD3 | c.1979A>T (p.Glu660Val) c.1976A>T (p.Glu659Val) | |
12 | g.65239987G>A | CA6671088 | LEMD3 | c.1980G>A (p.Glu660=) c.1977G>A (p.Glu659=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.65239987G>C | CA385671963 | LEMD3 | c.1980G>C (p.Glu660Asp) c.1977G>C (p.Glu659Asp) | gnomAD v4 |
12 | g.65239987G= | CA2042446576 | LEMD3 | c.1980G= (p.Glu660=) c.1977G= (p.Glu659=) | |
12 | g.65239987G>T | CA385671965 | LEMD3 | c.1980G>T (p.Glu660Asp) c.1977G>T (p.Glu659Asp) | |
12 | g.65239988G>A | CA238915175 | LEMD3 | c.1981G>A (p.Glu661Lys) c.1978G>A (p.Glu660Lys) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65239988G>C | CA385671968 | LEMD3 | c.1981G>C (p.Glu661Gln) c.1978G>C (p.Glu660Gln) | |
12 | g.65239988G= | CA2042446589 | LEMD3 | c.1981G= (p.Glu661=) c.1978G= (p.Glu660=) | |
12 | g.65239988G>T | CA385671970 | LEMD3 | c.1981G>T (p.Glu661Ter) c.1978G>T (p.Glu660Ter) | |
12 | g.65239989A= | CA2042446594 | LEMD3 | c.1982A= (p.Glu661=) c.1979A= (p.Glu660=) | |
12 | g.65239989A>C | CA385671975 | LEMD3 | c.1982A>C (p.Glu661Ala) c.1979A>C (p.Glu660Ala) | dbSNP |
12 | g.65239989A>G | CA385671971 | LEMD3 | c.1982A>G (p.Glu661Gly) c.1979A>G (p.Glu660Gly) | ClinVar |
12 | g.65239989A>T | CA385671973 | LEMD3 | c.1982A>T (p.Glu661Val) c.1979A>T (p.Glu660Val) | |
12 | g.65239990G>A | CA480666250 | LEMD3 | c.1983G>A (p.Glu661=) c.1980G>A (p.Glu660=) | ClinVar dbSNP gnomAD v4 |
12 | g.65239990G>C | CA385671977 | LEMD3 | c.1983G>C (p.Glu661Asp) c.1980G>C (p.Glu660Asp) | |
12 | g.65239990G= | CA2042446605 | LEMD3 | c.1983G= (p.Glu661=) c.1980G= (p.Glu660=) | |
12 | g.65239990G>T | CA385671978 | LEMD3 | c.1983G>T (p.Glu661Asp) c.1980G>T (p.Glu660Asp) | |
12 | g.65239991G>A | CA385671980 | LEMD3 | c.1984G>A (p.Glu662Lys) c.1981G>A (p.Glu661Lys) | |
12 | g.65239991G>C | CA385671982 | LEMD3 | c.1984G>C (p.Glu662Gln) c.1981G>C (p.Glu661Gln) | gnomAD v4 |
12 | g.65239991G>T | CA385671983 | LEMD3 | c.1984G>T (p.Glu662Ter) c.1981G>T (p.Glu661Ter) | |
12 | g.65239992A>C | CA385671985 | LEMD3 | c.1985A>C (p.Glu662Ala) c.1982A>C (p.Glu661Ala) | |
12 | g.65239992A>G | CA385671989 | LEMD3 | c.1985A>G (p.Glu662Gly) c.1982A>G (p.Glu661Gly) | |
12 | g.65239992A>T | CA385671987 | LEMD3 | c.1985A>T (p.Glu662Val) c.1982A>T (p.Glu661Val) | |
12 | g.65239993A>C | CA385671990 | LEMD3 | c.1986A>C (p.Glu662Asp) c.1983A>C (p.Glu661Asp) | |
12 | g.65239993A>G | CA480666251 | LEMD3 | c.1986A>G (p.Glu662=) c.1983A>G (p.Glu661=) | |
12 | g.65239993A>T | CA385671991 | LEMD3 | c.1986A>T (p.Glu662Asp) c.1983A>T (p.Glu661Asp) | |
12 | g.65239994A>C | CA385671992 | LEMD3 | c.1987A>C (p.Thr663Pro) c.1984A>C (p.Thr662Pro) | |
12 | g.65239994A>G | CA385671994 | LEMD3 | c.1987A>G (p.Thr663Ala) c.1984A>G (p.Thr662Ala) | |
12 | g.65239994A>T | CA385671996 | LEMD3 | c.1987A>T (p.Thr663Ser) c.1984A>T (p.Thr662Ser) | |
12 | g.65239995C>A | CA385671998 | LEMD3 | c.1988C>A (p.Thr663Lys) c.1985C>A (p.Thr662Lys) | |
12 | g.65239995C= | CA2042446609 | LEMD3 | c.1988C= (p.Thr663=) c.1985C= (p.Thr662=) | |
12 | g.65239995C>G | CA385671999 | LEMD3 | c.1988C>G (p.Thr663Arg) c.1985C>G (p.Thr662Arg) | |
12 | g.65239995C>T | CA385672000 | LEMD3 | c.1988C>T (p.Thr663Ile) c.1985C>T (p.Thr662Ile) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65239996A>C | CA480666252 | LEMD3 | c.1989A>C (p.Thr663=) c.1986A>C (p.Thr662=) | |
12 | g.65239996A>G | CA480666253 | LEMD3 | c.1989A>G (p.Thr663=) c.1986A>G (p.Thr662=) | |
12 | g.65239996A>T | CA480666254 | LEMD3 | c.1989A>T (p.Thr663=) c.1986A>T (p.Thr662=) | |
12 | g.65239997A>C | CA480666255 | LEMD3 | c.1990A>C (p.Arg664=) c.1987A>C (p.Arg663=) | |
12 | g.65239997A>G | CA385672001 | LEMD3 | c.1990A>G (p.Arg664Gly) c.1987A>G (p.Arg663Gly) | |
12 | g.65239997A>T | CA385672002 | LEMD3 | c.1990A>T (p.Arg664Trp) c.1987A>T (p.Arg663Trp) | |
12 | g.65239998G>A | CA385672003 | LEMD3 | c.1991G>A (p.Arg664Lys) c.1988G>A (p.Arg663Lys) | |
12 | g.65239998G>C | CA385672005 | LEMD3 | c.1991G>C (p.Arg664Thr) c.1988G>C (p.Arg663Thr) | |
12 | g.65239998G>T | CA385672004 | LEMD3 | c.1991G>T (p.Arg664Met) c.1988G>T (p.Arg663Met) | |
12 | g.65239999G>A | CA480666256 | LEMD3 | c.1992G>A (p.Arg664=) c.1989G>A (p.Arg663=) | |
12 | g.65239999G>C | CA385672008 | LEMD3 | c.1992G>C (p.Arg664Ser) c.1989G>C (p.Arg663Ser) | |
12 | g.65239999G>T | CA385672010 | LEMD3 | c.1992G>T (p.Arg664Ser) c.1989G>T (p.Arg663Ser) | |
12 | g.65240000C>A | CA385672013 | LEMD3 | c.1993C>A (p.Gln665Lys) c.1990C>A (p.Gln664Lys) | gnomAD v4 COSMIC |
12 | g.65240000C>G | CA385672014 | LEMD3 | c.1993C>G (p.Gln665Glu) c.1990C>G (p.Gln664Glu) | |
12 | g.65240000C>T | CA385672015 | LEMD3 | c.1993C>T (p.Gln665Ter) c.1990C>T (p.Gln664Ter) | |
12 | g.65240001A>C | CA385672018 | LEMD3 | c.1994A>C (p.Gln665Pro) c.1991A>C (p.Gln664Pro) | |
12 | g.65240001A>G | CA385672019 | LEMD3 | c.1994A>G (p.Gln665Arg) c.1991A>G (p.Gln664Arg) | ClinVar dbSNP |
12 | g.65240001A>T | CA385672020 | LEMD3 | c.1994A>T (p.Gln665Leu) c.1991A>T (p.Gln664Leu) | |
12 | g.65240002G>A | CA6671089 | LEMD3 | c.1995G>A (p.Gln665=) c.1992G>A (p.Gln664=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65240002G>C | CA385672023 | LEMD3 | c.1995G>C (p.Gln665His) c.1992G>C (p.Gln664His) | |
12 | g.65240002G= | CA2042446611 | LEMD3 | c.1995G= (p.Gln665=) c.1992G= (p.Gln664=) | |
12 | g.65240002G>T | CA385672024 | LEMD3 | c.1995G>T (p.Gln665His) c.1992G>T (p.Gln664His) | |
12 | g.65240003A>C | CA385672025 | LEMD3 | c.1996A>C (p.Met666Leu) c.1993A>C (p.Met665Leu) | |
12 | g.65240003A>G | CA385672027 | LEMD3 | c.1996A>G (p.Met666Val) c.1993A>G (p.Met665Val) | |
12 | g.65240003A>T | CA385672028 | LEMD3 | c.1996A>T (p.Met666Leu) c.1993A>T (p.Met665Leu) | gnomAD v4 |
12 | g.65240004T>A | CA385672031 | LEMD3 | c.1997T>A (p.Met666Lys) c.1994T>A (p.Met665Lys) | |
12 | g.65240004T>C | CA385672029 | LEMD3 | c.1997T>C (p.Met666Thr) c.1994T>C (p.Met665Thr) | |
12 | g.65240004T>G | CA385672030 | LEMD3 | c.1997T>G (p.Met666Arg) c.1994T>G (p.Met665Arg) | |
12 | g.65240005G>A | CA238915176 | LEMD3 | c.1998G>A (p.Met666Ile) c.1995G>A (p.Met665Ile) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65240005G>C | CA385672032 | LEMD3 | c.1998G>C (p.Met666Ile) c.1995G>C (p.Met665Ile) | |
12 | g.65240005G= | CA2042446616 | LEMD3 | c.1998G= (p.Met666=) c.1995G= (p.Met665=) | |
12 | g.65240005G>T | CA385672033 | LEMD3 | c.1998G>T (p.Met666Ile) c.1995G>T (p.Met665Ile) | |
12 | g.65240006T>A | CA385672034 | LEMD3 | c.1999T>A (p.Tyr667Asn) c.1996T>A (p.Tyr666Asn) | |
12 | g.65240006T>C | CA385672035 | LEMD3 | c.1999T>C (p.Tyr667His) c.1996T>C (p.Tyr666His) | |
12 | g.65240006T>G | CA385672036 | LEMD3 | c.1999T>G (p.Tyr667Asp) c.1996T>G (p.Tyr666Asp) | |
12 | g.65240007A= | CA2042446622 | LEMD3 | c.2000A= (p.Tyr667=) c.1997A= (p.Tyr666=) | |
12 | g.65240007A>C | CA385672037 | LEMD3 | c.2000A>C (p.Tyr667Ser) c.1997A>C (p.Tyr666Ser) | |
12 | g.65240007A>G | CA385672039 | LEMD3 | c.2000A>G (p.Tyr667Cys) c.1997A>G (p.Tyr666Cys) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.65240007A>T | CA385672040 | LEMD3 | c.2000A>T (p.Tyr667Phe) c.1997A>T (p.Tyr666Phe) | |
12 | g.65240008T>A | CA385672041 | LEMD3 | c.2001T>A (p.Tyr667Ter) c.1998T>A (p.Tyr666Ter) | |
12 | g.65240008T>C | CA480666257 | LEMD3 | c.2001T>C (p.Tyr667=) c.1998T>C (p.Tyr666=) | |
12 | g.65240008T>G | CA385672043 | LEMD3 | c.2001T>G (p.Tyr667Ter) c.1998T>G (p.Tyr666Ter) | |
12 | g.65240009G>A | CA385672048 | LEMD3 | c.2002G>A (p.Asp668Asn) c.1999G>A (p.Asp667Asn) | |
12 | g.65240009G>C | CA385672046 | LEMD3 | c.2002G>C (p.Asp668His) c.1999G>C (p.Asp667His) | |
12 | g.65240009G>T | CA385672044 | LEMD3 | c.2002G>T (p.Asp668Tyr) c.1999G>T (p.Asp667Tyr) | gnomAD v4 |
12 | g.65240010A>C | CA385672049 | LEMD3 | c.2003A>C (p.Asp668Ala) c.2000A>C (p.Asp667Ala) | |
12 | g.65240010A>G | CA385672050 | LEMD3 | c.2003A>G (p.Asp668Gly) c.2000A>G (p.Asp667Gly) | |
12 | g.65240010A>T | CA385672052 | LEMD3 | c.2003A>T (p.Asp668Val) c.2000A>T (p.Asp667Val) | |
12 | g.65240011T>A | CA385672053 | LEMD3 | c.2004T>A (p.Asp668Glu) c.2001T>A (p.Asp667Glu) | |
12 | g.65240011T>C | CA480666258 | LEMD3 | c.2004T>C (p.Asp668=) c.2001T>C (p.Asp667=) | |
12 | g.65240011T>G | CA385672054 | LEMD3 | c.2004T>G (p.Asp668Glu) c.2001T>G (p.Asp667Glu) | |
12 | g.65240012A>C | CA385672060 | LEMD3 | c.2005A>C (p.Met669Leu) c.2002A>C (p.Met668Leu) | |
12 | g.65240012A>G | CA385672058 | LEMD3 | c.2005A>G (p.Met669Val) c.2002A>G (p.Met668Val) | gnomAD v4 |
12 | g.65240012A>T | CA385672056 | LEMD3 | c.2005A>T (p.Met669Leu) c.2002A>T (p.Met668Leu) | |
12 | g.65240012_65240014del | CA2619669572 | LEMD3 | c.2005_2007del (p.Met669del) c.2002_2004del (p.Met668del) | gnomAD v4 |
12 | g.65240013T>A | CA385672062 | LEMD3 | c.2006T>A (p.Met669Lys) c.2003T>A (p.Met668Lys) | |
12 | g.65240013T>C | CA6671090 | LEMD3 | c.2006T>C (p.Met669Thr) c.2003T>C (p.Met668Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.65240013T>G | CA385672064 | LEMD3 | c.2006T>G (p.Met669Arg) c.2003T>G (p.Met668Arg) | |
12 | g.65240013T= | CA2042446632 | LEMD3 | c.2006T= (p.Met669=) c.2003T= (p.Met668=) | |
12 | g.65240014G>A | CA16603216 | LEMD3 | c.2007G>A (p.Met669Ile) c.2004G>A (p.Met668Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.65240014G>C | CA385672066 | LEMD3 | c.2007G>C (p.Met669Ile) c.2004G>C (p.Met668Ile) | |
12 | g.65240014G= | CA2042446638 | LEMD3 | c.2007G= (p.Met669=) c.2004G= (p.Met668=) | |
12 | g.65240014G>T | CA385672068 | LEMD3 | c.2007G>T (p.Met669Ile) c.2004G>T (p.Met668Ile) | |
12 | g.65240015del | CA2619669573 | LEMD3 | c.2008del (p.Val670TrpfsTer2) c.2005del (p.Val669TrpfsTer2) | gnomAD v4 |
12 | g.65240015G>A | CA385672070 | LEMD3 | c.2008G>A (p.Val670Met) c.2005G>A (p.Val669Met) | |
12 | g.65240015G>C | CA385672073 | LEMD3 | c.2008G>C (p.Val670Leu) c.2005G>C (p.Val669Leu) | |
12 | g.65240015G>T | CA385672071 | LEMD3 | c.2008G>T (p.Val670Leu) c.2005G>T (p.Val669Leu) | |
12 | g.65240016T>A | CA385672074 | LEMD3 | c.2009T>A (p.Val670Glu) c.2006T>A (p.Val669Glu) | |
12 | g.65240016T>C | CA385672076 | LEMD3 | c.2009T>C (p.Val670Ala) c.2006T>C (p.Val669Ala) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.65240016T>G | CA385672077 | LEMD3 | c.2009T>G (p.Val670Gly) c.2006T>G (p.Val669Gly) | |
12 | g.65240016T= | CA2042446644 | LEMD3 | c.2009T= (p.Val670=) c.2006T= (p.Val669=) | |
12 | g.65240017G>A | CA480666259 | LEMD3 | c.2010G>A (p.Val670=) c.2007G>A (p.Val669=) | |
12 | g.65240017G>C | CA480666261 | LEMD3 | c.2010G>C (p.Val670=) c.2007G>C (p.Val669=) | |
12 | g.65240017G>T | CA480666260 | LEMD3 | c.2010G>T (p.Val670=) c.2007G>T (p.Val669=) | |
12 | g.65240018G>A | CA385672079 | LEMD3 | c.2011G>A (p.Val671Ile) c.2008G>A (p.Val670Ile) | gnomAD v4 |
12 | g.65240018G>C | CA385672080 | LEMD3 | c.2011G>C (p.Val671Leu) c.2008G>C (p.Val670Leu) | |
12 | g.65240018G>T | CA385672081 | LEMD3 | c.2011G>T (p.Val671Leu) c.2008G>T (p.Val670Leu) | |
12 | g.65240019del | CA2575215406 | LEMD3 | c.2012del (p.Val671GlufsTer4) c.2009del (p.Val670GlufsTer4) | |
12 | g.65240019T>A | CA385672083 | LEMD3 | c.2012T>A (p.Val671Glu) c.2009T>A (p.Val670Glu) | |
12 | g.65240019T>C | CA385672085 | LEMD3 | c.2012T>C (p.Val671Ala) c.2009T>C (p.Val670Ala) | |
12 | g.65240019T>G | CA385672087 | LEMD3 | c.2012T>G (p.Val671Gly) c.2009T>G (p.Val670Gly) | |
12 | g.65240020A= | CA2042446649 | LEMD3 | c.2013A= (p.Val671=) c.2010A= (p.Val670=) | |
12 | g.65240020A>C | CA6671091 | LEMD3 | c.2013A>C (p.Val671=) c.2010A>C (p.Val670=) | dbSNP ExAC gnomAD v2 |
12 | g.65240020A>G | CA480666262 | LEMD3 | c.2013A>G (p.Val671=) c.2010A>G (p.Val670=) | |
12 | g.65240020A>T | CA480666263 | LEMD3 | c.2013A>T (p.Val671=) c.2010A>T (p.Val670=) | |
12 | g.65240021A= | CA2042446654 | LEMD3 | c.2014A= (p.Lys672=) c.2011A= (p.Lys671=) | |
12 | g.65240021A>C | CA385672091 | LEMD3 | c.2014A>C (p.Lys672Gln) c.2011A>C (p.Lys671Gln) | |
12 | g.65240021A>G | CA6671092 | LEMD3 | c.2014A>G (p.Lys672Glu) c.2011A>G (p.Lys671Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.65240021A>T | CA385672088 | LEMD3 | c.2014A>T (p.Lys672Ter) c.2011A>T (p.Lys671Ter) | |
12 | g.65240022A= | CA2042446660 | LEMD3 | c.2015A= (p.Lys672=) c.2012A= (p.Lys671=) | |
12 | g.65240022A>C | CA6671093 | LEMD3 | c.2015A>C (p.Lys672Thr) c.2012A>C (p.Lys671Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65240022A>G | CA385672095 | LEMD3 | c.2015A>G (p.Lys672Arg) c.2012A>G (p.Lys671Arg) | |
12 | g.65240022A>T | CA385672094 | LEMD3 | c.2015A>T (p.Lys672Met) c.2012A>T (p.Lys671Met) | |
12 | g.65240023G>A | CA480666264 | LEMD3 | c.2016G>A (p.Lys672=) c.2013G>A (p.Lys671=) | gnomAD v4 |
12 | g.65240023G>C | CA385672097 | LEMD3 | c.2016G>C (p.Lys672Asn) c.2013G>C (p.Lys671Asn) | |
12 | g.65240023G= | CA2042446666 | LEMD3 | c.2016G= (p.Lys672=) c.2013G= (p.Lys671=) | |
12 | g.65240023G>T | CA6671094 | LEMD3 | c.2016G>T (p.Lys672Asn) c.2013G>T (p.Lys671Asn) | dbSNP ExAC gnomAD v2 |
12 | g.65240024A= | CA2042446674 | LEMD3 | c.2017A= (p.Ile673=) c.2014A= (p.Ile672=) | |
12 | g.65240024A>C | CA385672099 | LEMD3 | c.2017A>C (p.Ile673Leu) c.2014A>C (p.Ile672Leu) | |
12 | g.65240024A>G | CA385672101 | LEMD3 | c.2017A>G (p.Ile673Val) c.2014A>G (p.Ile672Val) | |
12 | g.65240024A>T | CA6671095 | LEMD3 | c.2017A>T (p.Ile673Phe) c.2014A>T (p.Ile672Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65240025T>A | CA385672103 | LEMD3 | c.2018T>A (p.Ile673Asn) c.2015T>A (p.Ile672Asn) | |
12 | g.65240025T>C | CA385672105 | LEMD3 | c.2018T>C (p.Ile673Thr) c.2015T>C (p.Ile672Thr) | |
12 | g.65240025T>G | CA385672106 | LEMD3 | c.2018T>G (p.Ile673Ser) c.2015T>G (p.Ile672Ser) | |
12 | g.65240025_65240026insCATTCAA | CA605710065 | LEMD3 | c.2018_2019insCATTCAA (p.Asp675GlnfsTer9) c.2015_2016insCATTCAA (p.Asp674GlnfsTer9) | gnomAD v2 |
12 | g.65240025_65240026insCATTCAATAA | CA605710064 | LEMD3 | c.2018_2019insCATTCAATAA (p.Asp675GlnfsTer2) c.2015_2016insCATTCAATAA (p.Asp674GlnfsTer2) | gnomAD v2 |
12 | g.65240026T>A | CA480666265 | LEMD3 | c.2019T>A (p.Ile673=) c.2016T>A (p.Ile672=) | |
12 | g.65240026T>C | CA6671096 | LEMD3 | c.2019T>C (p.Ile673=) c.2016T>C (p.Ile672=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.65240026T>G | CA385672109 | LEMD3 | c.2019T>G (p.Ile673Met) c.2016T>G (p.Ile672Met) | gnomAD v4 |
12 | g.65240026T= | CA2042446675 | LEMD3 | c.2019T= (p.Ile673=) c.2016T= (p.Ile672=) | |
12 | g.65240027A= | CA2042446680 | LEMD3 | c.2020A= (p.Ile674=) c.2017A= (p.Ile673=) | |
12 | g.65240027A>C | CA385672111 | LEMD3 | c.2020A>C (p.Ile674Leu) c.2017A>C (p.Ile673Leu) | |
12 | g.65240027A>G | CA385672112 | LEMD3 | c.2020A>G (p.Ile674Val) c.2017A>G (p.Ile673Val) | |
12 | g.65240027A>T | CA238915177 | LEMD3 | c.2020A>T (p.Ile674Leu) c.2017A>T (p.Ile673Leu) | dbSNP |
12 | g.65240028T>A | CA385672116 | LEMD3 | c.2021T>A (p.Ile674Lys) c.2018T>A (p.Ile673Lys) | |
12 | g.65240028T>C | CA385672114 | LEMD3 | c.2021T>C (p.Ile674Thr) c.2018T>C (p.Ile673Thr) | dbSNP gnomAD v4 |
12 | g.65240028T>G | CA385672115 | LEMD3 | c.2021T>G (p.Ile674Arg) c.2018T>G (p.Ile673Arg) | |
12 | g.65240028T= | CA2042446681 | LEMD3 | c.2021T= (p.Ile674=) c.2018T= (p.Ile673=) |