| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |