UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 12 | g.65240029A>C | CA480666266 | LEMD3 | c.2022A>C (p.Ile674=) c.2019A>C (p.Ile673=) | |
| 12 | g.65240029A>G | CA385672117 | LEMD3 | c.2022A>G (p.Ile674Met) c.2019A>G (p.Ile673Met) | |
| 12 | g.65240029A>T | CA480666267 | LEMD3 | c.2022A>T (p.Ile674=) c.2019A>T (p.Ile673=) | |
| 12 | g.65240030G>A | CA385672119 | LEMD3 | c.2023G>A (p.Asp675Asn) c.2020G>A (p.Asp674Asn) | |
| 12 | g.65240030G>C | CA385672120 | LEMD3 | c.2023G>C (p.Asp675His) c.2020G>C (p.Asp674His) | |
| 12 | g.65240030G= | CA2042446683 | LEMD3 | c.2023G= (p.Asp675=) c.2020G= (p.Asp674=) | |
| 12 | g.65240030G>T | CA385672122 | LEMD3 | c.2023G>T (p.Asp675Tyr) c.2020G>T (p.Asp674Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.65240031G>A | CA385672124 | LEMD3 | c.2023+1G>A (n.2023+1G>A) c.2020+1G>A (n.2020+1G>A) | ClinVar dbSNP |
| 12 | g.65240031G>C | CA385672125 | LEMD3 | c.2023+1G>C (n.2023+1G>C) c.2020+1G>C (n.2020+1G>C) | |
| 12 | g.65240031G>T | CA385672126 | LEMD3 | c.2023+1G>T (n.2023+1G>T) c.2020+1G>T (n.2020+1G>T) | |
| 12 | g.65240032T>A | CA385672128 | LEMD3 | c.2023+2T>A (n.2023+2T>A) c.2020+2T>A (n.2020+2T>A) | |
| 12 | g.65240032T>C | CA385672130 | LEMD3 | c.2023+2T>C (n.2023+2T>C) c.2020+2T>C (n.2020+2T>C) | |
| 12 | g.65240032T>G | CA385672132 | LEMD3 | c.2023+2T>G (n.2023+2T>G) c.2020+2T>G (n.2020+2T>G) | |
| 12 | g.65240033A>G | CA2619669574 | LEMD3 | c.2023+3A>G (n.2023+3A>G) c.2020+3A>G (n.2020+3A>G) | gnomAD v4 |
| 12 | g.65240035_65240037del | CA2598240320 | LEMD3 | c.2023+5_2023+7del (n.2023+5_2023+7del) c.2020+5_2020+7del (n.2020+5_2020+7del) | gnomAD v3 gnomAD v4 |
| 12 | g.65240034T>A | CA605710066 | LEMD3 | c.2023+4T>A (n.2023+4T>A) c.2020+4T>A (n.2020+4T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.65240034T>C | CA2580086649 | LEMD3 | c.2023+4T>C (n.2023+4T>C) c.2020+4T>C (n.2020+4T>C) | ClinVar gnomAD v4 |
| 12 | g.65240034T= | CA2042446687 | LEMD3 | c.2023+4T= (n.2023+4T=) c.2020+4T= (n.2020+4T=) | |
| 12 | g.65240036A= | CA2042446692 | LEMD3 | c.2023+6A= (n.2023+6A=) c.2020+6A= (n.2020+6A=) | |
| 12 | g.65240036A>G | CA6671097 | LEMD3 | c.2023+6A>G (n.2023+6A>G) c.2020+6A>G (n.2020+6A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.65240040T>A | CA2619669575 | LEMD3 | c.2023+10T>A (n.2023+10T>A) c.2020+10T>A (n.2020+10T>A) | gnomAD v4 |
| 12 | g.65240040T>C | CA2575215407 | LEMD3 | c.2023+10T>C (n.2023+10T>C) c.2020+10T>C (n.2020+10T>C) | ClinVar gnomAD v4 |
| 12 | g.65240041T= | CA2042446695 | LEMD3 | c.2023+11T= (n.2023+11T=) c.2020+11T= (n.2020+11T=) | |
| 12 | g.65240041_65240042insCA | CA605710067 | LEMD3 | c.2023+11_2023+12insCA (n.2023+11_2023+12insCA) c.2020+11_2020+12insCA (n.2020+11_2020+12insCA) | dbSNP gnomAD v2 |
| 12 | g.65240042G>A | CA480666268 | LEMD3 | c.2023+12G>A (n.2023+12G>A) c.2020+12G>A (n.2020+12G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.65240042G= | CA2042446701 | LEMD3 | c.2023+12G= (n.2023+12G=) c.2020+12G= (n.2020+12G=) | |
| 12 | g.65240042G>T | CA6671098 | LEMD3 | c.2023+12G>T (n.2023+12G>T) c.2020+12G>T (n.2020+12G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65240043_65240045delinsTAA | CA2042446710 | LEMD3 | c.2023+13_2023+15delinsTAA (n.2023+13_2023+15delinsTAA) c.2020+13_2020+15delinsTAA (n.2020+13_2020+15delinsTAA) | |
| 12 | g.65240044A>G | CA2562669868 | LEMD3 | c.2023+14A>G (n.2023+14A>G) c.2020+14A>G (n.2020+14A>G) | |
| 12 | g.65240044_65240045del | CA605710068 | LEMD3 | c.2023+14_2023+15del (n.2023+14_2023+15del) c.2020+14_2020+15del (n.2020+14_2020+15del) | dbSNP gnomAD v2 |
| 12 | g.65240045A>G | CA2619669576 | LEMD3 | c.2023+15A>G (n.2023+15A>G) c.2020+15A>G (n.2020+15A>G) | gnomAD v4 |
| 12 | g.65240046G>A | CA2619669577 | LEMD3 | c.2023+16G>A (n.2023+16G>A) c.2020+16G>A (n.2020+16G>A) | gnomAD v4 |
| 12 | g.65240046G>C | CA2042446716 | LEMD3 | c.2023+16G>C (n.2023+16G>C) c.2020+16G>C (n.2020+16G>C) | dbSNP gnomAD v4 |
| 12 | g.65240046G= | CA2042446715 | LEMD3 | c.2023+16G= (n.2023+16G=) c.2020+16G= (n.2020+16G=) | |
| 12 | g.65240047A= | CA2042446717 | LEMD3 | c.2023+17A= (n.2023+17A=) c.2020+17A= (n.2020+17A=) | |
| 12 | g.65240047_65240048insTT | CA605710031 | LEMD3 | c.2023+17_2023+18insTT (n.2023+17_2023+18insTT) c.2020+17_2020+18insTT (n.2020+17_2020+18insTT) | dbSNP gnomAD v2 |
| 12 | g.65240048A>C | CA655048145 | LEMD3 | c.2023+18A>C (n.2023+18A>C) c.2020+18A>C (n.2020+18A>C) | COSMIC |
| 12 | g.65240048A>T | CA2575215408 | LEMD3 | c.2023+18A>T (n.2023+18A>T) c.2020+18A>T (n.2020+18A>T) | gnomAD v4 |
| 12 | g.65240049T>A | CA2619669578 | LEMD3 | c.2023+19T>A (n.2023+19T>A) c.2020+19T>A (n.2020+19T>A) | gnomAD v4 |
| 12 | g.65240052C>G | CA2619669579 | LEMD3 | c.2023+22C>G (n.2023+22C>G) c.2020+22C>G (n.2020+22C>G) | gnomAD v4 |
| 12 | g.65240052_65240056delinsCAACT | CA2042446722 | LEMD3 | c.2023+22_2023+26delinsCAACT (n.2023+22_2023+26delinsCAACT) c.2020+22_2020+26delinsCAACT (n.2020+22_2020+26delinsCAACT) | |
| 12 | g.65240053A>C | CA2575215409 | LEMD3 | c.2023+23A>C (n.2023+23A>C) c.2020+23A>C (n.2020+23A>C) | gnomAD v4 |
| 12 | g.65240053A>G | CA2575215410 | LEMD3 | c.2023+23A>G (n.2023+23A>G) c.2020+23A>G (n.2020+23A>G) | |
| 12 | g.65240054_65240057del | CA6671099 | LEMD3 | c.2023+24_2023+27del (n.2023+24_2023+27del) c.2020+24_2020+27del (n.2020+24_2020+27del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65240054A= | CA2042446726 | LEMD3 | c.2023+24A= (n.2023+24A=) c.2020+24A= (n.2020+24A=) | |
| 12 | g.65240054A>G | CA2042446727 | LEMD3 | c.2023+24A>G (n.2023+24A>G) c.2020+24A>G (n.2020+24A>G) | dbSNP gnomAD v4 |
| 12 | g.65240055C>A | CA2619669580 | LEMD3 | c.2023+25C>A (n.2023+25C>A) c.2020+25C>A (n.2020+25C>A) | gnomAD v4 |
| 12 | g.65240057A= | CA2042446739 | LEMD3 | c.2023+27A= (n.2023+27A=) c.2020+27A= (n.2020+27A=) | |
| 12 | g.65240057A>G | CA2042446742 | LEMD3 | c.2023+27A>G (n.2023+27A>G) c.2020+27A>G (n.2020+27A>G) | dbSNP gnomAD v4 |
| 12 | g.65240058T>G | CA6671100 | LEMD3 | c.2023+28T>G (n.2023+28T>G) c.2020+28T>G (n.2020+28T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.65240058T= | CA2042446747 | LEMD3 | c.2023+28T= (n.2023+28T=) c.2020+28T= (n.2020+28T=) | |
| 12 | g.65240061C>A | CA2619669581 | LEMD3 | c.2023+31C>A (n.2023+31C>A) c.2020+31C>A (n.2020+31C>A) | gnomAD v4 |
| 12 | g.65240063A= | CA2042446748 | LEMD3 | c.2023+33A= (n.2023+33A=) c.2020+33A= (n.2020+33A=) | |
| 12 | g.65240063A>G | CA2042446750 | LEMD3 | c.2023+33A>G (n.2023+33A>G) c.2020+33A>G (n.2020+33A>G) | dbSNP gnomAD v4 |
| 12 | g.65240066A>G | CA2619669582 | LEMD3 | c.2023+36A>G (n.2023+36A>G) c.2020+36A>G (n.2020+36A>G) | gnomAD v4 |
| 12 | g.65240067G= | CA2042446751 | LEMD3 | c.2023+37G= (n.2023+37G=) c.2020+37G= (n.2020+37G=) | |
| 12 | g.65240067G>T | CA2042446752 | LEMD3 | c.2023+37G>T (n.2023+37G>T) c.2020+37G>T (n.2020+37G>T) | dbSNP |
| 12 | g.65240069G>A | CA2619669583 | LEMD3 | c.2023+39G>A (n.2023+39G>A) c.2020+39G>A (n.2020+39G>A) | gnomAD v4 |
| 12 | g.65240071C>A | CA6671101 | LEMD3 | c.2023+41C>A (n.2023+41C>A) c.2020+41C>A (n.2020+41C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.65240071C= | CA2042446753 | LEMD3 | c.2023+41C= (n.2023+41C=) c.2020+41C= (n.2020+41C=) | |
| 12 | g.65240071C>T | CA2575215411 | LEMD3 | c.2023+41C>T (n.2023+41C>T) c.2020+41C>T (n.2020+41C>T) | gnomAD v4 |