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 |
|---|---|---|---|---|---|
| 1 | g.209623920T>A | CA344588831 | LAMB3 | c.2057A>T (p.Asp686Val) c.1865A>T (p.Asp622Val) | |
| 1 | g.209623920T>C | CA344588832 | LAMB3 | c.2057A>G (p.Asp686Gly) c.1865A>G (p.Asp622Gly) | gnomAD v4 |
| 1 | g.209623920T>G | CA344588833 | LAMB3 | c.2057A>C (p.Asp686Ala) c.1865A>C (p.Asp622Ala) | |
| 1 | g.209623921C>A | CA344588834 | LAMB3 | c.2056G>T (p.Asp686Tyr) c.1864G>T (p.Asp622Tyr) | |
| 1 | g.209623921C>G | CA344588835 | LAMB3 | c.2056G>C (p.Asp686His) c.1864G>C (p.Asp622His) | |
| 1 | g.209623921C>T | CA344588836 | LAMB3 | c.2056G>A (p.Asp686Asn) c.1864G>A (p.Asp622Asn) | |
| 1 | g.209623922A>C | CA423142385 | LAMB3 | c.2055T>G (p.Leu685=) c.1863T>G (p.Leu621=) | dbSNP |
| 1 | g.209623922A>G | CA423142391 | LAMB3 | c.2055T>C (p.Leu685=) c.1863T>C (p.Leu621=) | |
| 1 | g.209623922A>T | CA423142388 | LAMB3 | c.2055T>A (p.Leu685=) c.1863T>A (p.Leu621=) | |
| 1 | g.209623923A= | CA2484298430 | LAMB3 | c.2054T= (p.Leu685=) c.1862T= (p.Leu621=) | |
| 1 | g.209623923A>C | CA344588837 | LAMB3 | c.2054T>G (p.Leu685Arg) c.1862T>G (p.Leu621Arg) | dbSNP |
| 1 | g.209623923A>G | CA344588839 | LAMB3 | c.2054T>C (p.Leu685Pro) c.1862T>C (p.Leu621Pro) | |
| 1 | g.209623923A>T | CA344588838 | LAMB3 | c.2054T>A (p.Leu685His) c.1862T>A (p.Leu621His) | |
| 1 | g.209623924G>A | CA344588840 | LAMB3 | c.2053C>T (p.Leu685Phe) c.1861C>T (p.Leu621Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623924G>C | CA344588841 | LAMB3 | c.2053C>G (p.Leu685Val) c.1861C>G (p.Leu621Val) | |
| 1 | g.209623924G= | CA2484298431 | LAMB3 | c.2053C= (p.Leu685=) c.1861C= (p.Leu621=) | |
| 1 | g.209623924G>T | CA344588842 | LAMB3 | c.2053C>A (p.Leu685Ile) c.1861C>A (p.Leu621Ile) | |
| 1 | g.209623925A>C | CA344588843 | LAMB3 | c.2052T>G (p.Ser684Arg) c.1860T>G (p.Ser620Arg) | |
| 1 | g.209623925A>G | CA423142400 | LAMB3 | c.2052T>C (p.Ser684=) c.1860T>C (p.Ser620=) | gnomAD v4 |
| 1 | g.209623925A>T | CA344588844 | LAMB3 | c.2052T>A (p.Ser684Arg) c.1860T>A (p.Ser620Arg) | |
| 1 | g.209623926C>A | CA344588845 | LAMB3 | c.2051G>T (p.Ser684Ile) c.1859G>T (p.Ser620Ile) | |
| 1 | g.209623926C= | CA2484298432 | LAMB3 | c.2051G= (p.Ser684=) c.1859G= (p.Ser620=) | |
| 1 | g.209623926C>G | CA344588846 | LAMB3 | c.2051G>C (p.Ser684Thr) c.1859G>C (p.Ser620Thr) | |
| 1 | g.209623926C>T | CA1375395 | LAMB3 | c.2051G>A (p.Ser684Asn) c.1859G>A (p.Ser620Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623927T>A | CA344588847 | LAMB3 | c.2050A>T (p.Ser684Cys) c.1858A>T (p.Ser620Cys) | |
| 1 | g.209623927T>C | CA344588848 | LAMB3 | c.2050A>G (p.Ser684Gly) c.1858A>G (p.Ser620Gly) | dbSNP gnomAD v4 |
| 1 | g.209623927T>G | CA344588849 | LAMB3 | c.2050A>C (p.Ser684Arg) c.1858A>C (p.Ser620Arg) | gnomAD v4 |
| 1 | g.209623927T= | CA2484298433 | LAMB3 | c.2050A= (p.Ser684=) c.1858A= (p.Ser620=) | |
| 1 | g.209623928C>A | CA344588850 | LAMB3 | c.2049G>T (p.Glu683Asp) c.1857G>T (p.Glu619Asp) | |
| 1 | g.209623928C>G | CA344588851 | LAMB3 | c.2049G>C (p.Glu683Asp) c.1857G>C (p.Glu619Asp) | |
| 1 | g.209623928C>T | CA423142408 | LAMB3 | c.2049G>A (p.Glu683=) c.1857G>A (p.Glu619=) | ClinVar |
| 1 | g.209623929T>A | CA344588852 | LAMB3 | c.2048A>T (p.Glu683Val) c.1856A>T (p.Glu619Val) | |
| 1 | g.209623929T>C | CA344588854 | LAMB3 | c.2048A>G (p.Glu683Gly) c.1856A>G (p.Glu619Gly) | gnomAD v4 |
| 1 | g.209623929T>G | CA344588853 | LAMB3 | c.2048A>C (p.Glu683Ala) c.1856A>C (p.Glu619Ala) | |
| 1 | g.209623929_209623930delinsTC | CA2484298434 | LAMB3 | c.2047_2048delinsGA (p.Glu683=) c.1855_1856delinsGA (p.Glu619=) | |
| 1 | g.209623930C>A | CA344588855 | LAMB3 | c.2047G>T (p.Glu683Ter) c.1855G>T (p.Glu619Ter) | |
| 1 | g.209623930C>G | CA344588856 | LAMB3 | c.2047G>C (p.Glu683Gln) c.1855G>C (p.Glu619Gln) | |
| 1 | g.209623930C>T | CA344588857 | LAMB3 | c.2047G>A (p.Glu683Lys) c.1855G>A (p.Glu619Lys) | |
| 1 | g.209623931del | CA2484298435 | LAMB3 | c.2047del (p.Glu683ArgfsTer24) c.1855del (p.Glu619ArgfsTer24) | ClinVar dbSNP |
| 1 | g.209623931C>A | CA423142417 | LAMB3 | c.2046G>T (p.Leu682=) c.1854G>T (p.Leu618=) | |
| 1 | g.209623931C= | CA2484298436 | LAMB3 | c.2046G= (p.Leu682=) c.1854G= (p.Leu618=) | |
| 1 | g.209623931C>G | CA423142418 | LAMB3 | c.2046G>C (p.Leu682=) c.1854G>C (p.Leu618=) | |
| 1 | g.209623931C>T | CA423142419 | LAMB3 | c.2046G>A (p.Leu682=) c.1854G>A (p.Leu618=) | dbSNP gnomAD v2 |
| 1 | g.209623932A>C | CA344588858 | LAMB3 | c.2045T>G (p.Leu682Arg) c.1853T>G (p.Leu618Arg) | |
| 1 | g.209623932A>G | CA344588859 | LAMB3 | c.2045T>C (p.Leu682Pro) c.1853T>C (p.Leu618Pro) | |
| 1 | g.209623932A>T | CA344588860 | LAMB3 | c.2045T>A (p.Leu682Gln) c.1853T>A (p.Leu618Gln) | |
| 1 | g.209623933G>A | CA423142420 | LAMB3 | c.2044C>T (p.Leu682=) c.1852C>T (p.Leu618=) | gnomAD v4 |
| 1 | g.209623933G>C | CA344588861 | LAMB3 | c.2044C>G (p.Leu682Val) c.1852C>G (p.Leu618Val) | |
| 1 | g.209623933G>T | CA344588862 | LAMB3 | c.2044C>A (p.Leu682Met) c.1852C>A (p.Leu618Met) | |
| 1 | g.209623934G>A | CA423142424 | LAMB3 | c.2043C>T (p.Asp681=) c.1851C>T (p.Asp617=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209623934G>C | CA344588863 | LAMB3 | c.2043C>G (p.Asp681Glu) c.1851C>G (p.Asp617Glu) | |
| 1 | g.209623934G= | CA2484298437 | LAMB3 | c.2043C= (p.Asp681=) c.1851C= (p.Asp617=) | |
| 1 | g.209623934G>T | CA344588864 | LAMB3 | c.2043C>A (p.Asp681Glu) c.1851C>A (p.Asp617Glu) | |
| 1 | g.209623935T>A | CA344588867 | LAMB3 | c.2042A>T (p.Asp681Val) c.1850A>T (p.Asp617Val) | |
| 1 | g.209623935T>C | CA344588866 | LAMB3 | c.2042A>G (p.Asp681Gly) c.1850A>G (p.Asp617Gly) | |
| 1 | g.209623935T>G | CA344588865 | LAMB3 | c.2042A>C (p.Asp681Ala) c.1850A>C (p.Asp617Ala) | |
| 1 | g.209623936C>A | CA344588868 | LAMB3 | c.2041G>T (p.Asp681Tyr) c.1849G>T (p.Asp617Tyr) | |
| 1 | g.209623936C= | CA2484298438 | LAMB3 | c.2041G= (p.Asp681=) c.1849G= (p.Asp617=) | |
| 1 | g.209623936C>G | CA344588870 | LAMB3 | c.2041G>C (p.Asp681His) c.1849G>C (p.Asp617His) | |
| 1 | g.209623936C>T | CA344588869 | LAMB3 | c.2041G>A (p.Asp681Asn) c.1849G>A (p.Asp617Asn) | dbSNP |
| 1 | g.209623937T>A | CA344588871 | LAMB3 | c.2040A>T (p.Arg680Ser) c.1848A>T (p.Arg616Ser) | |
| 1 | g.209623937T>C | CA423142439 | LAMB3 | c.2040A>G (p.Arg680=) c.1848A>G (p.Arg616=) | |
| 1 | g.209623937T>G | CA344588872 | LAMB3 | c.2040A>C (p.Arg680Ser) c.1848A>C (p.Arg616Ser) | |
| 1 | g.209623938C>A | CA344588873 | LAMB3 | c.2039G>T (p.Arg680Ile) c.1847G>T (p.Arg616Ile) | |
| 1 | g.209623938C>G | CA344588874 | LAMB3 | c.2039G>C (p.Arg680Thr) c.1847G>C (p.Arg616Thr) | gnomAD v4 |
| 1 | g.209623938C>T | CA344588875 | LAMB3 | c.2039G>A (p.Arg680Lys) c.1847G>A (p.Arg616Lys) | |
| 1 | g.209623939T>A | CA344588876 | LAMB3 | c.2038A>T (p.Arg680Ter) c.1846A>T (p.Arg616Ter) | COSMIC |
| 1 | g.209623939T>C | CA344588877 | LAMB3 | c.2038A>G (p.Arg680Gly) c.1846A>G (p.Arg616Gly) | |
| 1 | g.209623939T>G | CA423142443 | LAMB3 | c.2038A>C (p.Arg680=) c.1846A>C (p.Arg616=) | |
| 1 | g.209623940C>A | CA423142449 | LAMB3 | c.2037G>T (p.Pro679=) c.1845G>T (p.Pro615=) | ClinVar dbSNP |
| 1 | g.209623940C= | CA2484298439 | LAMB3 | c.2037G= (p.Pro679=) c.1845G= (p.Pro615=) | |
| 1 | g.209623940C>G | CA1375396 | LAMB3 | c.2037G>C (p.Pro679=) c.1845G>C (p.Pro615=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623940C>T | CA1375397 | LAMB3 | c.2037G>A (p.Pro679=) c.1845G>A (p.Pro615=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623941G>A | CA1375398 | LAMB3 | c.2036C>T (p.Pro679Leu) c.1844C>T (p.Pro615Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623941G>C | CA344588878 | LAMB3 | c.2036C>G (p.Pro679Arg) c.1844C>G (p.Pro615Arg) | |
| 1 | g.209623941G= | CA1143469367 | LAMB3 | c.2036C= (p.Pro679=) c.1844C= (p.Pro615=) | |
| 1 | g.209623941G>T | CA344588879 | LAMB3 | c.2036C>A (p.Pro679Gln) c.1844C>A (p.Pro615Gln) | gnomAD v4 |
| 1 | g.209623942G>A | CA344588881 | LAMB3 | c.2035C>T (p.Pro679Ser) c.1843C>T (p.Pro615Ser) | COSMIC |
| 1 | g.209623942G>C | CA1375399 | LAMB3 | c.2035C>G (p.Pro679Ala) c.1843C>G (p.Pro615Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623942G= | CA2484298440 | LAMB3 | c.2035C= (p.Pro679=) c.1843C= (p.Pro615=) | |
| 1 | g.209623942G>T | CA344588880 | LAMB3 | c.2035C>A (p.Pro679Thr) c.1843C>A (p.Pro615Thr) | |
| 1 | g.209623943A>C | CA423142458 | LAMB3 | c.2034T>G (p.Leu678=) c.1842T>G (p.Leu614=) | |
| 1 | g.209623943A>G | CA423142460 | LAMB3 | c.2034T>C (p.Leu678=) c.1842T>C (p.Leu614=) | |
| 1 | g.209623943A>T | CA423142461 | LAMB3 | c.2034T>A (p.Leu678=) c.1842T>A (p.Leu614=) | |
| 1 | g.209623944A>C | CA344588882 | LAMB3 | c.2033T>G (p.Leu678Arg) c.1841T>G (p.Leu614Arg) | |
| 1 | g.209623944A>G | CA344588883 | LAMB3 | c.2033T>C (p.Leu678Pro) c.1841T>C (p.Leu614Pro) | |
| 1 | g.209623944A>T | CA344588884 | LAMB3 | c.2033T>A (p.Leu678His) c.1841T>A (p.Leu614His) | |
| 1 | g.209623945G>A | CA344588885 | LAMB3 | c.2032C>T (p.Leu678Phe) c.1840C>T (p.Leu614Phe) | COSMIC |
| 1 | g.209623945G>C | CA344588886 | LAMB3 | c.2032C>G (p.Leu678Val) c.1840C>G (p.Leu614Val) | |
| 1 | g.209623945G>T | CA344588887 | LAMB3 | c.2032C>A (p.Leu678Ile) c.1840C>A (p.Leu614Ile) | |
| 1 | g.209623946G>A | CA423142466 | LAMB3 | c.2031C>T (p.Ser677=) c.1839C>T (p.Ser613=) | COSMIC |
| 1 | g.209623946G>C | CA423142467 | LAMB3 | c.2031C>G (p.Ser677=) c.1839C>G (p.Ser613=) | |
| 1 | g.209623946G= | CA2484298441 | LAMB3 | c.2031C= (p.Ser677=) c.1839C= (p.Ser613=) | |
| 1 | g.209623946G>T | CA36752898 | LAMB3 | c.2031C>A (p.Ser677=) c.1839C>A (p.Ser613=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209623947G>A | CA344588888 | LAMB3 | c.2030C>T (p.Ser677Phe) c.1838C>T (p.Ser613Phe) | |
| 1 | g.209623947G>C | CA344588889 | LAMB3 | c.2030C>G (p.Ser677Cys) c.1838C>G (p.Ser613Cys) | |
| 1 | g.209623947G>T | CA344588890 | LAMB3 | c.2030C>A (p.Ser677Tyr) c.1838C>A (p.Ser613Tyr) | |
| 1 | g.209623947_209623950del | CA913072631 | LAMB3 | c.2027_2030del (p.Leu676SerfsTer30) c.1835_1838del (p.Leu612SerfsTer30) | |
| 1 | g.209623947_209623950delinsGACA | CA2484298442 | LAMB3 | c.2027_2030delinsTGTC (p.Leu676=) c.1835_1838delinsTGTC (p.Leu612=) | |
| 1 | g.209623948A>C | CA344588891 | LAMB3 | c.2029T>G (p.Ser677Ala) c.1837T>G (p.Ser613Ala) | |
| 1 | g.209623948A>G | CA344588892 | LAMB3 | c.2029T>C (p.Ser677Pro) c.1837T>C (p.Ser613Pro) | |
| 1 | g.209623948A>T | CA344588893 | LAMB3 | c.2029T>A (p.Ser677Thr) c.1837T>A (p.Ser613Thr) | |
| 1 | g.209623949_209623950dup | CA2650321626 | LAMB3 | c.2028_2029dup (p.Ser677CysfsTer31) c.1836_1837dup (p.Ser613CysfsTer31) | gnomAD v4 |
| 1 | g.209623950_209623952del | CA658822566 | LAMB3 | c.2027_2029del (p.Leu676del) c.1835_1837del (p.Leu612del) | ClinVar dbSNP |
| 1 | g.209623949C>A | CA344588894 | LAMB3 | c.2028G>T (p.Leu676Phe) c.1836G>T (p.Leu612Phe) | |
| 1 | g.209623949C= | CA2484298443 | LAMB3 | c.2028G= (p.Leu676=) c.1836G= (p.Leu612=) | |
| 1 | g.209623949C>G | CA344588895 | LAMB3 | c.2028G>C (p.Leu676Phe) c.1836G>C (p.Leu612Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623949C>T | CA423142474 | LAMB3 | c.2028G>A (p.Leu676=) c.1836G>A (p.Leu612=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209623950A= | CA2484298444 | LAMB3 | c.2027T= (p.Leu676=) c.1835T= (p.Leu612=) | |
| 1 | g.209623950A>C | CA344588896 | LAMB3 | c.2027T>G (p.Leu676Trp) c.1835T>G (p.Leu612Trp) | |
| 1 | g.209623950A>G | CA344588897 | LAMB3 | c.2027T>C (p.Leu676Ser) c.1835T>C (p.Leu612Ser) | ClinVar dbSNP |
| 1 | g.209623950A>T | CA344588898 | LAMB3 | c.2027T>A (p.Leu676Ter) c.1835T>A (p.Leu612Ter) | |
| 1 | g.209623951A= | CA2484298445 | LAMB3 | c.2026T= (p.Leu676=) c.1834T= (p.Leu612=) | |
| 1 | g.209623951A>C | CA344588899 | LAMB3 | c.2026T>G (p.Leu676Val) c.1834T>G (p.Leu612Val) | |
| 1 | g.209623951A>G | CA423142478 | LAMB3 | c.2026T>C (p.Leu676=) c.1834T>C (p.Leu612=) | dbSNP |
| 1 | g.209623951A>T | CA1375400 | LAMB3 | c.2026T>A (p.Leu676Met) c.1834T>A (p.Leu612Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623952C>A | CA1375401 | LAMB3 | c.2025G>T (p.Thr675=) c.1833G>T (p.Thr611=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623952C= | CA2484298446 | LAMB3 | c.2025G= (p.Thr675=) c.1833G= (p.Thr611=) | |
| 1 | g.209623952C>G | CA423142479 | LAMB3 | c.2025G>C (p.Thr675=) c.1833G>C (p.Thr611=) | |
| 1 | g.209623952C>T | CA1375402 | LAMB3 | c.2025G>A (p.Thr675=) c.1833G>A (p.Thr611=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623953G>A | CA1375403 | LAMB3 | c.2024C>T (p.Thr675Met) c.1832C>T (p.Thr611Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209623953G>C | CA344588900 | LAMB3 | c.2024C>G (p.Thr675Arg) c.1832C>G (p.Thr611Arg) | |
| 1 | g.209623953G= | CA1143890001 | LAMB3 | c.2024C= (p.Thr675=) c.1832C= (p.Thr611=) | |
| 1 | g.209623953G>T | CA344588901 | LAMB3 | c.2024C>A (p.Thr675Lys) c.1832C>A (p.Thr611Lys) | gnomAD v4 |
| 1 | g.209623954T>A | CA344588902 | LAMB3 | c.2023A>T (p.Thr675Ser) c.1831A>T (p.Thr611Ser) | |
| 1 | g.209623954T>C | CA344588903 | LAMB3 | c.2023A>G (p.Thr675Ala) c.1831A>G (p.Thr611Ala) | |
| 1 | g.209623954T>G | CA344588904 | LAMB3 | c.2023A>C (p.Thr675Pro) c.1831A>C (p.Thr611Pro) | |
| 1 | g.209623955C>A | CA344588906 | LAMB3 | c.2022G>T (p.Glu674Asp) c.1830G>T (p.Glu610Asp) | |
| 1 | g.209623955C>G | CA344588905 | LAMB3 | c.2022G>C (p.Glu674Asp) c.1830G>C (p.Glu610Asp) | |
| 1 | g.209623955C>T | CA423142481 | LAMB3 | c.2022G>A (p.Glu674=) c.1830G>A (p.Glu610=) | |
| 1 | g.209623956T>A | CA344588907 | LAMB3 | c.2021A>T (p.Glu674Val) c.1829A>T (p.Glu610Val) | |
| 1 | g.209623956T>C | CA344588908 | LAMB3 | c.2021A>G (p.Glu674Gly) c.1829A>G (p.Glu610Gly) | |
| 1 | g.209623956T>G | CA344588909 | LAMB3 | c.2021A>C (p.Glu674Ala) c.1829A>C (p.Glu610Ala) | |
| 1 | g.209623957C>A | CA344588910 | LAMB3 | c.2020G>T (p.Glu674Ter) c.1828G>T (p.Glu610Ter) | gnomAD v4 |
| 1 | g.209623957C>G | CA344588911 | LAMB3 | c.2020G>C (p.Glu674Gln) c.1828G>C (p.Glu610Gln) | |
| 1 | g.209623957C>T | CA344588912 | LAMB3 | c.2020G>A (p.Glu674Lys) c.1828G>A (p.Glu610Lys) | gnomAD v4 COSMIC |
| 1 | g.209623958C>A | CA344588913 | LAMB3 | c.2019G>T (p.Glu673Asp) c.1827G>T (p.Glu609Asp) | |
| 1 | g.209623958C>G | CA344588914 | LAMB3 | c.2019G>C (p.Glu673Asp) c.1827G>C (p.Glu609Asp) | |
| 1 | g.209623958C>T | CA423142482 | LAMB3 | c.2019G>A (p.Glu673=) c.1827G>A (p.Glu609=) | |
| 1 | g.209623959T>A | CA344588915 | LAMB3 | c.2018A>T (p.Glu673Val) c.1826A>T (p.Glu609Val) | |
| 1 | g.209623959T>C | CA344588917 | LAMB3 | c.2018A>G (p.Glu673Gly) c.1826A>G (p.Glu609Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623959T>G | CA1375404 | LAMB3 | c.2018A>C (p.Glu673Ala) c.1826A>C (p.Glu609Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623959T= | CA2484298447 | LAMB3 | c.2018A= (p.Glu673=) c.1826A= (p.Glu609=) | |
| 1 | g.209623960C>A | CA344588918 | LAMB3 | c.2017G>T (p.Glu673Ter) c.1825G>T (p.Glu609Ter) | |
| 1 | g.209623960C= | CA2484298448 | LAMB3 | c.2017G= (p.Glu673=) c.1825G= (p.Glu609=) | |
| 1 | g.209623960C>G | CA344588919 | LAMB3 | c.2017G>C (p.Glu673Gln) c.1825G>C (p.Glu609Gln) | |
| 1 | g.209623960C>T | CA344588920 | LAMB3 | c.2017G>A (p.Glu673Lys) c.1825G>A (p.Glu609Lys) | dbSNP gnomAD v4 |
| 1 | g.209623961C>A | CA344588922 | LAMB3 | c.2016G>T (p.Glu672Asp) c.1824G>T (p.Glu608Asp) | |
| 1 | g.209623961C= | CA2484298449 | LAMB3 | c.2016G= (p.Glu672=) c.1824G= (p.Glu608=) | |
| 1 | g.209623961C>G | CA344588921 | LAMB3 | c.2016G>C (p.Glu672Asp) c.1824G>C (p.Glu608Asp) | |
| 1 | g.209623961C>T | CA423142485 | LAMB3 | c.2016G>A (p.Glu672=) c.1824G>A (p.Glu608=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623962T>A | CA344588923 | LAMB3 | c.2015A>T (p.Glu672Val) c.1823A>T (p.Glu608Val) | |
| 1 | g.209623962T>C | CA344588925 | LAMB3 | c.2015A>G (p.Glu672Gly) c.1823A>G (p.Glu608Gly) | |
| 1 | g.209623962T>G | CA344588924 | LAMB3 | c.2015A>C (p.Glu672Ala) c.1823A>C (p.Glu608Ala) | |
| 1 | g.209623963C>A | CA344588926 | LAMB3 | c.2014G>T (p.Glu672Ter) c.1822G>T (p.Glu608Ter) | |
| 1 | g.209623963C= | CA2484298450 | LAMB3 | c.2014G= (p.Glu672=) c.1822G= (p.Glu608=) | |
| 1 | g.209623963C>G | CA344588928 | LAMB3 | c.2014G>C (p.Glu672Gln) c.1822G>C (p.Glu608Gln) | gnomAD v4 |
| 1 | g.209623963C>T | CA344588927 | LAMB3 | c.2014G>A (p.Glu672Lys) c.1822G>A (p.Glu608Lys) | dbSNP |
| 1 | g.209623964del | CA2573130648 | LAMB3 | c.2014del (p.Glu672ArgfsTer?) c.1822del (p.Glu608ArgfsTer?) | ClinVar dbSNP |
| 1 | g.209623964C>A | CA423142489 | LAMB3 | c.2013G>T (p.Leu671=) c.1821G>T (p.Leu607=) | |
| 1 | g.209623964C= | CA1142200767 | LAMB3 | c.2013G= (p.Leu671=) c.1821G= (p.Leu607=) | |
| 1 | g.209623964C>G | CA423142490 | LAMB3 | c.2013G>C (p.Leu671=) c.1821G>C (p.Leu607=) | |
| 1 | g.209623964C>T | CA36752910 | LAMB3 | c.2013G>A (p.Leu671=) c.1821G>A (p.Leu607=) | dbSNP gnomAD v4 COSMIC |
| 1 | g.209623965A= | CA2484298452 | LAMB3 | c.2012T= (p.Leu671=) c.1820T= (p.Leu607=) | |
| 1 | g.209623965A>C | CA344588930 | LAMB3 | c.2012T>G (p.Leu671Arg) c.1820T>G (p.Leu607Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623965A>G | CA344588929 | LAMB3 | c.2012T>C (p.Leu671Pro) c.1820T>C (p.Leu607Pro) | dbSNP gnomAD v4 |
| 1 | g.209623965A>T | CA344588931 | LAMB3 | c.2012T>A (p.Leu671Gln) c.1820T>A (p.Leu607Gln) | |
| 1 | g.209623965_209623966delinsAG | CA2484298451 | LAMB3 | c.2011_2012delinsCT (p.Leu671=) c.1819_1820delinsCT (p.Leu607=) | |
| 1 | g.209623966G>A | CA423142491 | LAMB3 | c.2011C>T (p.Leu671=) c.1819C>T (p.Leu607=) | gnomAD v4 |
| 1 | g.209623966G>C | CA344588932 | LAMB3 | c.2011C>G (p.Leu671Val) c.1819C>G (p.Leu607Val) | |
| 1 | g.209623966G>T | CA344588933 | LAMB3 | c.2011C>A (p.Leu671Met) c.1819C>A (p.Leu607Met) | |
| 1 | g.209623969del | CA16040693 | LAMB3 | c.2011del (p.Leu671TrpfsTer?) c.1819del (p.Leu607TrpfsTer?) | ClinVar dbSNP |
| 1 | g.209623967G>A | CA423142494 | LAMB3 | c.2010C>T (p.Pro670=) c.1818C>T (p.Pro606=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.209623967G>C | CA423142492 | LAMB3 | c.2010C>G (p.Pro670=) c.1818C>G (p.Pro606=) | |
| 1 | g.209623967G= | CA2484298453 | LAMB3 | c.2010C= (p.Pro670=) c.1818C= (p.Pro606=) | |
| 1 | g.209623967G>T | CA423142493 | LAMB3 | c.2010C>A (p.Pro670=) c.1818C>A (p.Pro606=) | |
| 1 | g.209623968G>A | CA344588934 | LAMB3 | c.2009C>T (p.Pro670Leu) c.1817C>T (p.Pro606Leu) | |
| 1 | g.209623968G>C | CA344588935 | LAMB3 | c.2009C>G (p.Pro670Arg) c.1817C>G (p.Pro606Arg) | |
| 1 | g.209623968G>T | CA344588936 | LAMB3 | c.2009C>A (p.Pro670His) c.1817C>A (p.Pro606His) | |
| 1 | g.209623969G>A | CA344588937 | LAMB3 | c.2008C>T (p.Pro670Ser) c.1816C>T (p.Pro606Ser) | |
| 1 | g.209623969G>C | CA344588938 | LAMB3 | c.2008C>G (p.Pro670Ala) c.1816C>G (p.Pro606Ala) | |
| 1 | g.209623969G= | CA2484298454 | LAMB3 | c.2008C= (p.Pro670=) c.1816C= (p.Pro606=) | |
| 1 | g.209623969G>T | CA344588939 | LAMB3 | c.2008C>A (p.Pro670Thr) c.1816C>A (p.Pro606Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623970C>A | CA423142503 | LAMB3 | c.2007G>T (p.Leu669=) c.1815G>T (p.Leu605=) | |
| 1 | g.209623970C= | CA2484298455 | LAMB3 | c.2007G= (p.Leu669=) c.1815G= (p.Leu605=) | |
| 1 | g.209623970C>G | CA423142504 | LAMB3 | c.2007G>C (p.Leu669=) c.1815G>C (p.Leu605=) | |
| 1 | g.209623970C>T | CA423142505 | LAMB3 | c.2007G>A (p.Leu669=) c.1815G>A (p.Leu605=) | dbSNP gnomAD v4 |
| 1 | g.209623971A= | CA1139989112 | LAMB3 | c.2006T= (p.Leu669=) c.1814T= (p.Leu605=) | |
| 1 | g.209623971A>C | CA344588940 | LAMB3 | c.2006T>G (p.Leu669Arg) c.1814T>G (p.Leu605Arg) | |
| 1 | g.209623971A>G | CA344588941 | LAMB3 | c.2006T>C (p.Leu669Pro) c.1814T>C (p.Leu605Pro) | |
| 1 | g.209623971A>T | CA36752917 | LAMB3 | c.2006T>A (p.Leu669Gln) c.1814T>A (p.Leu605Gln) | dbSNP |
| 1 | g.209623972G>A | CA423142509 | LAMB3 | c.2005C>T (p.Leu669=) c.1813C>T (p.Leu605=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209623972G>C | CA344588943 | LAMB3 | c.2005C>G (p.Leu669Val) c.1813C>G (p.Leu605Val) | |
| 1 | g.209623972G= | CA2484298456 | LAMB3 | c.2005C= (p.Leu669=) c.1813C= (p.Leu605=) | |
| 1 | g.209623972G>T | CA344588942 | LAMB3 | c.2005C>A (p.Leu669Met) c.1813C>A (p.Leu605Met) | |
| 1 | g.209623973A>C | CA344588944 | LAMB3 | c.2004T>G (p.Asp668Glu) c.1812T>G (p.Asp604Glu) | |
| 1 | g.209623973A>G | CA423142512 | LAMB3 | c.2004T>C (p.Asp668=) c.1812T>C (p.Asp604=) | |
| 1 | g.209623973A>T | CA344588945 | LAMB3 | c.2004T>A (p.Asp668Glu) c.1812T>A (p.Asp604Glu) | |
| 1 | g.209623974T>A | CA344588946 | LAMB3 | c.2003A>T (p.Asp668Val) c.1811A>T (p.Asp604Val) | |
| 1 | g.209623974T>C | CA344588947 | LAMB3 | c.2003A>G (p.Asp668Gly) c.1811A>G (p.Asp604Gly) | |
| 1 | g.209623974T>G | CA344588948 | LAMB3 | c.2003A>C (p.Asp668Ala) c.1811A>C (p.Asp604Ala) | |
| 1 | g.209623975C>A | CA344588949 | LAMB3 | c.2002G>T (p.Asp668Tyr) c.1810G>T (p.Asp604Tyr) | |
| 1 | g.209623975C= | CA2484298457 | LAMB3 | c.2002G= (p.Asp668=) c.1810G= (p.Asp604=) | |
| 1 | g.209623975C>G | CA344588950 | LAMB3 | c.2002G>C (p.Asp668His) c.1810G>C (p.Asp604His) | |
| 1 | g.209623975C>T | CA344588951 | LAMB3 | c.2002G>A (p.Asp668Asn) c.1810G>A (p.Asp604Asn) | dbSNP gnomAD v4 |
| 1 | g.209623976C>A | CA423142518 | LAMB3 | c.2001G>T (p.Leu667=) c.1809G>T (p.Leu603=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623976C= | CA2484298458 | LAMB3 | c.2001G= (p.Leu667=) c.1809G= (p.Leu603=) | |
| 1 | g.209623976C>G | CA423142520 | LAMB3 | c.2001G>C (p.Leu667=) c.1809G>C (p.Leu603=) | |
| 1 | g.209623976C>T | CA423142521 | LAMB3 | c.2001G>A (p.Leu667=) c.1809G>A (p.Leu603=) | gnomAD v4 |
| 1 | g.209623977A>C | CA344588952 | LAMB3 | c.2000T>G (p.Leu667Arg) c.1808T>G (p.Leu603Arg) | |
| 1 | g.209623977A>G | CA344588953 | LAMB3 | c.2000T>C (p.Leu667Pro) c.1808T>C (p.Leu603Pro) | |
| 1 | g.209623977A>T | CA344588954 | LAMB3 | c.2000T>A (p.Leu667Gln) c.1808T>A (p.Leu603Gln) | |
| 1 | g.209623978G>A | CA423142526 | LAMB3 | c.1999C>T (p.Leu667=) c.1807C>T (p.Leu603=) | |
| 1 | g.209623978G>C | CA344588955 | LAMB3 | c.1999C>G (p.Leu667Val) c.1807C>G (p.Leu603Val) | |
| 1 | g.209623978G>T | CA344588956 | LAMB3 | c.1999C>A (p.Leu667Met) c.1807C>A (p.Leu603Met) | |
| 1 | g.209623979C>A | CA344588957 | LAMB3 | c.1998G>T (p.Gln666His) c.1806G>T (p.Gln602His) | |
| 1 | g.209623979C>G | CA344588958 | LAMB3 | c.1998G>C (p.Gln666His) c.1806G>C (p.Gln602His) | |
| 1 | g.209623979C>T | CA423142530 | LAMB3 | c.1998G>A (p.Gln666=) c.1806G>A (p.Gln602=) | |
| 1 | g.209623980T>A | CA344588959 | LAMB3 | c.1997A>T (p.Gln666Leu) c.1805A>T (p.Gln602Leu) | |
| 1 | g.209623980T>C | CA344588960 | LAMB3 | c.1997A>G (p.Gln666Arg) c.1805A>G (p.Gln602Arg) | |
| 1 | g.209623980T>G | CA344588961 | LAMB3 | c.1997A>C (p.Gln666Pro) c.1805A>C (p.Gln602Pro) | |
| 1 | g.209623981G>A | CA344588962 | LAMB3 | c.1996C>T (p.Gln666Ter) c.1804C>T (p.Gln602Ter) | gnomAD v4 |
| 1 | g.209623981G>C | CA344588963 | LAMB3 | c.1996C>G (p.Gln666Glu) c.1804C>G (p.Gln602Glu) | |
| 1 | g.209623981G>T | CA344588964 | LAMB3 | c.1996C>A (p.Gln666Lys) c.1804C>A (p.Gln602Lys) | gnomAD v4 |
| 1 | g.209623982C>A | CA423142538 | LAMB3 | c.1995G>T (p.Leu665=) c.1803G>T (p.Leu601=) | |
| 1 | g.209623982C= | CA2484298459 | LAMB3 | c.1995G= (p.Leu665=) c.1803G= (p.Leu601=) | |
| 1 | g.209623982C>G | CA423142539 | LAMB3 | c.1995G>C (p.Leu665=) c.1803G>C (p.Leu601=) | |
| 1 | g.209623982C>T | CA1375405 | LAMB3 | c.1995G>A (p.Leu665=) c.1803G>A (p.Leu601=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623983A>C | CA344588965 | LAMB3 | c.1994T>G (p.Leu665Arg) c.1802T>G (p.Leu601Arg) | |
| 1 | g.209623983A>G | CA344588966 | LAMB3 | c.1994T>C (p.Leu665Pro) c.1802T>C (p.Leu601Pro) | |
| 1 | g.209623983A>T | CA344588967 | LAMB3 | c.1994T>A (p.Leu665Gln) c.1802T>A (p.Leu601Gln) | |
| 1 | g.209623984G>A | CA423142543 | LAMB3 | c.1993C>T (p.Leu665=) c.1801C>T (p.Leu601=) | |
| 1 | g.209623984G>C | CA344588968 | LAMB3 | c.1993C>G (p.Leu665Val) c.1801C>G (p.Leu601Val) | |
| 1 | g.209623984G>T | CA344588969 | LAMB3 | c.1993C>A (p.Leu665Met) c.1801C>A (p.Leu601Met) | |
| 1 | g.209623985G>A | CA423142546 | LAMB3 | c.1992C>T (p.Gly664=) c.1800C>T (p.Gly600=) | gnomAD v3 gnomAD v4 |
| 1 | g.209623985G>C | CA423142549 | LAMB3 | c.1992C>G (p.Gly664=) c.1800C>G (p.Gly600=) | |
| 1 | g.209623985G>T | CA423142544 | LAMB3 | c.1992C>A (p.Gly664=) c.1800C>A (p.Gly600=) | |
| 1 | g.209623986C>A | CA344588972 | LAMB3 | c.1991G>T (p.Gly664Val) c.1799G>T (p.Gly600Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623986C= | CA2484298460 | LAMB3 | c.1991G= (p.Gly664=) c.1799G= (p.Gly600=) | |
| 1 | g.209623986C>G | CA344588970 | LAMB3 | c.1991G>C (p.Gly664Ala) c.1799G>C (p.Gly600Ala) | |
| 1 | g.209623986C>T | CA344588971 | LAMB3 | c.1991G>A (p.Gly664Asp) c.1799G>A (p.Gly600Asp) | dbSNP gnomAD v4 |
| 1 | g.209623987C>A | CA344588973 | LAMB3 | c.1990G>T (p.Gly664Cys) c.1798G>T (p.Gly600Cys) | |
| 1 | g.209623987C>G | CA344588974 | LAMB3 | c.1990G>C (p.Gly664Arg) c.1798G>C (p.Gly600Arg) | |
| 1 | g.209623987C>T | CA344588975 | LAMB3 | c.1990G>A (p.Gly664Ser) c.1798G>A (p.Gly600Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623988C>A | CA344588976 | LAMB3 | c.1989G>T (p.Gln663His) c.1797G>T (p.Gln599His) | |
| 1 | g.209623988C= | CA1147492737 | LAMB3 | c.1989G= (p.Gln663=) c.1797G= (p.Gln599=) | |
| 1 | g.209623988C>G | CA1375406 | LAMB3 | c.1989G>C (p.Gln663His) c.1797G>C (p.Gln599His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623988C>T | CA423142553 | LAMB3 | c.1989G>A (p.Gln663=) c.1797G>A (p.Gln599=) | |
| 1 | g.209623989T>A | CA344588977 | LAMB3 | c.1988A>T (p.Gln663Leu) c.1796A>T (p.Gln599Leu) | |
| 1 | g.209623989T>C | CA344588978 | LAMB3 | c.1988A>G (p.Gln663Arg) c.1796A>G (p.Gln599Arg) | |
| 1 | g.209623989T>G | CA344588979 | LAMB3 | c.1988A>C (p.Gln663Pro) c.1796A>C (p.Gln599Pro) | |
| 1 | g.209623990G>A | CA344588980 | LAMB3 | c.1987C>T (p.Gln663Ter) c.1795C>T (p.Gln599Ter) | |
| 1 | g.209623990G>C | CA344588981 | LAMB3 | c.1987C>G (p.Gln663Glu) c.1795C>G (p.Gln599Glu) | |
| 1 | g.209623990G>T | CA344588982 | LAMB3 | c.1987C>A (p.Gln663Lys) c.1795C>A (p.Gln599Lys) | |
| 1 | g.209623991G>A | CA1375407 | LAMB3 | c.1986C>T (p.Leu662=) c.1794C>T (p.Leu598=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623991G>C | CA423142556 | LAMB3 | c.1986C>G (p.Leu662=) c.1794C>G (p.Leu598=) | gnomAD v4 COSMIC |
| 1 | g.209623991G= | CA2484298461 | LAMB3 | c.1986C= (p.Leu662=) c.1794C= (p.Leu598=) | |
| 1 | g.209623991G>T | CA423142557 | LAMB3 | c.1986C>A (p.Leu662=) c.1794C>A (p.Leu598=) | |
| 1 | g.209623992A= | CA2484298462 | LAMB3 | c.1985T= (p.Leu662=) c.1793T= (p.Leu598=) | |
| 1 | g.209623992A>C | CA344588984 | LAMB3 | c.1985T>G (p.Leu662Arg) c.1793T>G (p.Leu598Arg) | |
| 1 | g.209623992A>G | CA344588985 | LAMB3 | c.1985T>C (p.Leu662Pro) c.1793T>C (p.Leu598Pro) | |
| 1 | g.209623992A>T | CA344588983 | LAMB3 | c.1985T>A (p.Leu662His) c.1793T>A (p.Leu598His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209623993G>A | CA344588988 | LAMB3 | c.1984C>T (p.Leu662Phe) c.1792C>T (p.Leu598Phe) | |
| 1 | g.209623993G>C | CA344588986 | LAMB3 | c.1984C>G (p.Leu662Val) c.1792C>G (p.Leu598Val) | |
| 1 | g.209623993G>T | CA344588987 | LAMB3 | c.1984C>A (p.Leu662Ile) c.1792C>A (p.Leu598Ile) | gnomAD v4 |
| 1 | g.209623993dup | CA2650321627 | LAMB3 | c.1984dup (p.Leu662ProfsTer25) c.1792dup (p.Leu598ProfsTer25) | gnomAD v4 |
| 1 | g.209623994A>C | CA423142562 | LAMB3 | c.1983T>G (p.Thr661=) c.1791T>G (p.Thr597=) | |
| 1 | g.209623994A>G | CA423142563 | LAMB3 | c.1983T>C (p.Thr661=) c.1791T>C (p.Thr597=) | gnomAD v4 |
| 1 | g.209623994A>T | CA423142564 | LAMB3 | c.1983T>A (p.Thr661=) c.1791T>A (p.Thr597=) | |
| 1 | g.209623995G>A | CA344588989 | LAMB3 | c.1982C>T (p.Thr661Ile) c.1790C>T (p.Thr597Ile) | COSMIC |
| 1 | g.209623995G>C | CA344588990 | LAMB3 | c.1982C>G (p.Thr661Ser) c.1790C>G (p.Thr597Ser) | |
| 1 | g.209623995G>T | CA344588991 | LAMB3 | c.1982C>A (p.Thr661Asn) c.1790C>A (p.Thr597Asn) | |
| 1 | g.209623996T>A | CA344588992 | LAMB3 | c.1981A>T (p.Thr661Ser) c.1789A>T (p.Thr597Ser) | |
| 1 | g.209623996T>C | CA344588993 | LAMB3 | c.1981A>G (p.Thr661Ala) c.1789A>G (p.Thr597Ala) | |
| 1 | g.209623996T>G | CA344588994 | LAMB3 | c.1981A>C (p.Thr661Pro) c.1789A>C (p.Thr597Pro) | |
| 1 | g.209623997T>A | CA423142568 | LAMB3 | c.1980A>T (p.Arg660=) c.1788A>T (p.Arg596=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209623997T>C | CA423142569 | LAMB3 | c.1980A>G (p.Arg660=) c.1788A>G (p.Arg596=) | |
| 1 | g.209623997T>G | CA423142570 | LAMB3 | c.1980A>C (p.Arg660=) c.1788A>C (p.Arg596=) | |
| 1 | g.209623998C>A | CA344588995 | LAMB3 | c.1979G>T (p.Arg660Leu) c.1787G>T (p.Arg596Leu) | |
| 1 | g.209623998C= | CA1144094706 | LAMB3 | c.1979G= (p.Arg660=) c.1787G= (p.Arg596=) | |
| 1 | g.209623998C>G | CA344588996 | LAMB3 | c.1979G>C (p.Arg660Pro) c.1787G>C (p.Arg596Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623998C>T | CA1375408 | LAMB3 | c.1979G>A (p.Arg660Gln) c.1787G>A (p.Arg596Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209623999G>A | CA274294 | LAMB3 | c.1978C>T (p.Arg660Ter) c.1786C>T (p.Arg596Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623999G>C | CA344588997 | LAMB3 | c.1978C>G (p.Arg660Gly) c.1786C>G (p.Arg596Gly) | gnomAD v4 |
| 1 | g.209623999G= | CA1142138029 | LAMB3 | c.1978C= (p.Arg660=) c.1786C= (p.Arg596=) | |
| 1 | g.209623999G>T | CA423142574 | LAMB3 | c.1978C>A (p.Arg660=) c.1786C>A (p.Arg596=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209624000C>A | CA344588999 | LAMB3 | c.1977G>T (p.Arg659Ser) c.1785G>T (p.Arg595Ser) | |
| 1 | g.209624000C>G | CA344588998 | LAMB3 | c.1977G>C (p.Arg659Ser) c.1785G>C (p.Arg595Ser) | |
| 1 | g.209624000C>T | CA423142577 | LAMB3 | c.1977G>A (p.Arg659=) c.1785G>A (p.Arg595=) | gnomAD v4 |
| 1 | g.209624001C>A | CA344589000 | LAMB3 | c.1977-1G>T (n.1977-1G>T) c.1785-1G>T (n.1785-1G>T) | |
| 1 | g.209624001C= | CA2484298463 | LAMB3 | c.1977-1G= (n.1977-1G=) c.1785-1G= (n.1785-1G=) | |
| 1 | g.209624001C>G | CA344589001 | LAMB3 | c.1977-1G>C (n.1977-1G>C) c.1785-1G>C (n.1785-1G>C) | |
| 1 | g.209624001C>T | CA235774 | LAMB3 | c.1977-1G>A (n.1977-1G>A) c.1785-1G>A (n.1785-1G>A) | ClinVar dbSNP |
| 1 | g.209624002T>A | CA344589002 | LAMB3 | c.1977-2A>T (n.1977-2A>T) c.1785-2A>T (n.1785-2A>T) | |
| 1 | g.209624002T>C | CA344589003 | LAMB3 | c.1977-2A>G (n.1977-2A>G) c.1785-2A>G (n.1785-2A>G) | |
| 1 | g.209624002T>G | CA344589004 | LAMB3 | c.1977-2A>C (n.1977-2A>C) c.1785-2A>C (n.1785-2A>C) | gnomAD v4 |
| 1 | g.209624003G>A | CA2650321628 | LAMB3 | c.1977-3C>T (n.1977-3C>T) c.1785-3C>T (n.1785-3C>T) | gnomAD v4 |
| 1 | g.209624004A>G | CA2697554867 | LAMB3 | c.1977-4T>C (n.1977-4T>C) c.1785-4T>C (n.1785-4T>C) | ClinVar |
| 1 | g.209624006_209624008del | CA2697961092 | LAMB3 | c.1977-6_1977-4del (n.1977-6_1977-4del) c.1785-6_1785-4del (n.1785-6_1785-4del) | dbSNP |
| 1 | g.209624005G>A | CA2573130649 | LAMB3 | c.1977-5C>T (n.1977-5C>T) c.1785-5C>T (n.1785-5C>T) | ClinVar dbSNP |
| 1 | g.209624005G>C | CA2650321630 | LAMB3 | c.1977-5C>G (n.1977-5C>G) c.1785-5C>G (n.1785-5C>G) | gnomAD v4 |
| 1 | g.209624005G>T | CA2650321629 | LAMB3 | c.1977-5C>A (n.1977-5C>A) c.1785-5C>A (n.1785-5C>A) | gnomAD v4 |
| 1 | g.209624007A>G | CA2650321631 | LAMB3 | c.1977-7T>C (n.1977-7T>C) c.1785-7T>C (n.1785-7T>C) | gnomAD v4 |
| 1 | g.209624008G>A | CA2650321632 | LAMB3 | c.1977-8C>T (n.1977-8C>T) c.1785-8C>T (n.1785-8C>T) | gnomAD v4 |
| 1 | g.209624008G>C | CA529000169 | LAMB3 | c.1977-8C>G (n.1977-8C>G) c.1785-8C>G (n.1785-8C>G) | dbSNP gnomAD v2 |
| 1 | g.209624008G= | CA2484298464 | LAMB3 | c.1977-8C= (n.1977-8C=) c.1785-8C= (n.1785-8C=) | |
| 1 | g.209624008G>T | CA2650321633 | LAMB3 | c.1977-8C>A (n.1977-8C>A) c.1785-8C>A (n.1785-8C>A) | gnomAD v4 |
| 1 | g.209624010G>A | CA2650321634 | LAMB3 | c.1977-10C>T (n.1977-10C>T) c.1785-10C>T (n.1785-10C>T) | ClinVar gnomAD v4 |
| 1 | g.209624011A>G | CA646385977 | LAMB3 | c.1977-11T>C (n.1977-11T>C) c.1785-11T>C (n.1785-11T>C) | COSMIC |
| 1 | g.209624012G>C | CA2650321635 | LAMB3 | c.1977-12C>G (n.1977-12C>G) c.1785-12C>G (n.1785-12C>G) | gnomAD v4 |
| 1 | g.209624012G>T | CA2650321636 | LAMB3 | c.1977-12C>A (n.1977-12C>A) c.1785-12C>A (n.1785-12C>A) | gnomAD v4 |
| 1 | g.209624015G>A | CA2573998285 | LAMB3 | c.1977-15C>T (n.1977-15C>T) c.1785-15C>T (n.1785-15C>T) | ClinVar gnomAD v4 |
| 1 | g.209624016A>C | CA2650321637 | LAMB3 | c.1977-16T>G (n.1977-16T>G) c.1785-16T>G (n.1785-16T>G) | gnomAD v4 |
| 1 | g.209624016A>G | CA2573998350 | LAMB3 | c.1977-16T>C (n.1977-16T>C) c.1785-16T>C (n.1785-16T>C) | gnomAD v4 |
| 1 | g.209624017G>A | CA2650321638 | LAMB3 | c.1977-17C>T (n.1977-17C>T) c.1785-17C>T (n.1785-17C>T) | gnomAD v4 |
| 1 | g.209624017G= | CA2484298466 | LAMB3 | c.1977-17C= (n.1977-17C=) c.1785-17C= (n.1785-17C=) | |
| 1 | g.209624017G>T | CA1375410 | LAMB3 | c.1977-17C>A (n.1977-17C>A) c.1785-17C>A (n.1785-17C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209624017_209624018delinsGC | CA2484298465 | LAMB3 | c.1977-18_1977-17delinsGC (n.1977-18_1977-17delinsGC) c.1785-18_1785-17delinsGC (n.1785-18_1785-17delinsGC) | |
| 1 | g.209624018del | CA1375409 | LAMB3 | c.1977-18del (n.1977-18del) c.1785-18del (n.1785-18del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209624018C= | CA2484298467 | LAMB3 | c.1977-18G= (n.1977-18G=) c.1785-18G= (n.1785-18G=) | |
| 1 | g.209624018C>T | CA529000170 | LAMB3 | c.1977-18G>A (n.1977-18G>A) c.1785-18G>A (n.1785-18G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209624018_209624019delinsCT | CA2484298468 | LAMB3 | c.1977-19_1977-18delinsAG (n.1977-19_1977-18delinsAG) c.1785-19_1785-18delinsAG (n.1785-19_1785-18delinsAG) | |
| 1 | g.209624020del | CA730826524 | LAMB3 | c.1977-19del (n.1977-19del) c.1785-19del (n.1785-19del) | dbSNP gnomAD v3 gnomAD v4 |