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.209623873_209623879del | CA2573998099 | LAMB3 | c.2100_2106del (p.Arg700SerfsTer5) c.1908_1914del (p.Arg636SerfsTer5) | |
| 1 | g.209623872T>A | CA344588722 | LAMB3 | c.2105A>T (p.Gln702Leu) c.1913A>T (p.Gln638Leu) | |
| 1 | g.209623872T>C | CA344588723 | LAMB3 | c.2105A>G (p.Gln702Arg) c.1913A>G (p.Gln638Arg) | |
| 1 | g.209623872T>G | CA344588724 | LAMB3 | c.2105A>C (p.Gln702Pro) c.1913A>C (p.Gln638Pro) | |
| 1 | g.209623873G>A | CA344588727 | LAMB3 | c.2104C>T (p.Gln702Ter) c.1912C>T (p.Gln638Ter) | gnomAD v4 |
| 1 | g.209623873G>C | CA344588726 | LAMB3 | c.2104C>G (p.Gln702Glu) c.1912C>G (p.Gln638Glu) | |
| 1 | g.209623873G>T | CA344588725 | LAMB3 | c.2104C>A (p.Gln702Lys) c.1912C>A (p.Gln638Lys) | gnomAD v4 |
| 1 | g.209623874C>A | CA344588728 | LAMB3 | c.2103G>T (p.Glu701Asp) c.1911G>T (p.Glu637Asp) | |
| 1 | g.209623874C= | CA2484298419 | LAMB3 | c.2103G= (p.Glu701=) c.1911G= (p.Glu637=) | |
| 1 | g.209623874C>G | CA344588729 | LAMB3 | c.2103G>C (p.Glu701Asp) c.1911G>C (p.Glu637Asp) | |
| 1 | g.209623874C>T | CA423142205 | LAMB3 | c.2103G>A (p.Glu701=) c.1911G>A (p.Glu637=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623875T>A | CA344588730 | LAMB3 | c.2102A>T (p.Glu701Val) c.1910A>T (p.Glu637Val) | |
| 1 | g.209623875T>C | CA344588731 | LAMB3 | c.2102A>G (p.Glu701Gly) c.1910A>G (p.Glu637Gly) | |
| 1 | g.209623875T>G | CA344588732 | LAMB3 | c.2102A>C (p.Glu701Ala) c.1910A>C (p.Glu637Ala) | |
| 1 | g.209623876C>A | CA344588733 | LAMB3 | c.2101G>T (p.Glu701Ter) c.1909G>T (p.Glu637Ter) | |
| 1 | g.209623876C>G | CA344588734 | LAMB3 | c.2101G>C (p.Glu701Gln) c.1909G>C (p.Glu637Gln) | |
| 1 | g.209623876C>T | CA344588735 | LAMB3 | c.2101G>A (p.Glu701Lys) c.1909G>A (p.Glu637Lys) | COSMIC |
| 1 | g.209623877C>A | CA344588736 | LAMB3 | c.2100G>T (p.Arg700Ser) c.1908G>T (p.Arg636Ser) | |
| 1 | g.209623877C>G | CA344588737 | LAMB3 | c.2100G>C (p.Arg700Ser) c.1908G>C (p.Arg636Ser) | gnomAD v4 |
| 1 | g.209623877C>T | CA423142212 | LAMB3 | c.2100G>A (p.Arg700=) c.1908G>A (p.Arg636=) | COSMIC |
| 1 | g.209623877_209623888delinsT | CA2580061977 | LAMB3 | c.2089_2100delinsA (p.Gln697ArgfsTer4) c.1897_1908delinsA (p.Gln633ArgfsTer4) | ClinVar |
| 1 | g.209623878C>A | CA344588738 | LAMB3 | c.2099G>T (p.Arg700Met) c.1907G>T (p.Arg636Met) | |
| 1 | g.209623878C>G | CA344588739 | LAMB3 | c.2099G>C (p.Arg700Thr) c.1907G>C (p.Arg636Thr) | |
| 1 | g.209623878C>T | CA344588740 | LAMB3 | c.2099G>A (p.Arg700Lys) c.1907G>A (p.Arg636Lys) | |
| 1 | g.209623879T>A | CA344588741 | LAMB3 | c.2098A>T (p.Arg700Trp) c.1906A>T (p.Arg636Trp) | |
| 1 | g.209623879T>C | CA1375384 | LAMB3 | c.2098A>G (p.Arg700Gly) c.1906A>G (p.Arg636Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209623879T>G | CA423142225 | LAMB3 | c.2098A>C (p.Arg700=) c.1906A>C (p.Arg636=) | |
| 1 | g.209623879T= | CA1144041457 | LAMB3 | c.2098A= (p.Arg700=) c.1906A= (p.Arg636=) | |
| 1 | g.209623880C>A | CA344588742 | LAMB3 | c.2097G>T (p.Lys699Asn) c.1905G>T (p.Lys635Asn) | |
| 1 | g.209623880C= | CA2484298420 | LAMB3 | c.2097G= (p.Lys699=) c.1905G= (p.Lys635=) | |
| 1 | g.209623880C>G | CA344588743 | LAMB3 | c.2097G>C (p.Lys699Asn) c.1905G>C (p.Lys635Asn) | dbSNP |
| 1 | g.209623880C>T | CA423142227 | LAMB3 | c.2097G>A (p.Lys699=) c.1905G>A (p.Lys635=) | |
| 1 | g.209623881T>A | CA344588744 | LAMB3 | c.2096A>T (p.Lys699Met) c.1904A>T (p.Lys635Met) | |
| 1 | g.209623881T>C | CA344588745 | LAMB3 | c.2096A>G (p.Lys699Arg) c.1904A>G (p.Lys635Arg) | |
| 1 | g.209623881T>G | CA344588746 | LAMB3 | c.2096A>C (p.Lys699Thr) c.1904A>C (p.Lys635Thr) | |
| 1 | g.209623882T>A | CA344588747 | LAMB3 | c.2095A>T (p.Lys699Ter) c.1903A>T (p.Lys635Ter) | COSMIC |
| 1 | g.209623882T>C | CA344588748 | LAMB3 | c.2095A>G (p.Lys699Glu) c.1903A>G (p.Lys635Glu) | |
| 1 | g.209623882T>G | CA344588749 | LAMB3 | c.2095A>C (p.Lys699Gln) c.1903A>C (p.Lys635Gln) | |
| 1 | g.209623883C>A | CA344588750 | LAMB3 | c.2094G>T (p.Arg698Ser) c.1902G>T (p.Arg634Ser) | |
| 1 | g.209623883C= | CA1141483169 | LAMB3 | c.2094G= (p.Arg698=) c.1902G= (p.Arg634=) | |
| 1 | g.209623883C>G | CA344588751 | LAMB3 | c.2094G>C (p.Arg698Ser) c.1902G>C (p.Arg634Ser) | |
| 1 | g.209623883C>T | CA1375385 | LAMB3 | c.2094G>A (p.Arg698=) c.1902G>A (p.Arg634=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623884C>A | CA344588754 | LAMB3 | c.2093G>T (p.Arg698Met) c.1901G>T (p.Arg634Met) | |
| 1 | g.209623884C>G | CA344588753 | LAMB3 | c.2093G>C (p.Arg698Thr) c.1901G>C (p.Arg634Thr) | |
| 1 | g.209623884C>T | CA344588752 | LAMB3 | c.2093G>A (p.Arg698Lys) c.1901G>A (p.Arg634Lys) | gnomAD v4 |
| 1 | g.209623885T>A | CA344588755 | LAMB3 | c.2092A>T (p.Arg698Trp) c.1900A>T (p.Arg634Trp) | |
| 1 | g.209623885T>C | CA344588756 | LAMB3 | c.2092A>G (p.Arg698Gly) c.1900A>G (p.Arg634Gly) | |
| 1 | g.209623885T>G | CA423142251 | LAMB3 | c.2092A>C (p.Arg698=) c.1900A>C (p.Arg634=) | |
| 1 | g.209623886C>A | CA344588757 | LAMB3 | c.2091G>T (p.Gln697His) c.1899G>T (p.Gln633His) | |
| 1 | g.209623886C>G | CA344588758 | LAMB3 | c.2091G>C (p.Gln697His) c.1899G>C (p.Gln633His) | dbSNP |
| 1 | g.209623886C>T | CA423142252 | LAMB3 | c.2091G>A (p.Gln697=) c.1899G>A (p.Gln633=) | COSMIC |
| 1 | g.209623887T>A | CA344588759 | LAMB3 | c.2090A>T (p.Gln697Leu) c.1898A>T (p.Gln633Leu) | |
| 1 | g.209623887T>C | CA344588760 | LAMB3 | c.2090A>G (p.Gln697Arg) c.1898A>G (p.Gln633Arg) | |
| 1 | g.209623887T>G | CA344588761 | LAMB3 | c.2090A>C (p.Gln697Pro) c.1898A>C (p.Gln633Pro) | |
| 1 | g.209623888G>A | CA344588762 | LAMB3 | c.2089C>T (p.Gln697Ter) c.1897C>T (p.Gln633Ter) | |
| 1 | g.209623888G>C | CA344588763 | LAMB3 | c.2089C>G (p.Gln697Glu) c.1897C>G (p.Gln633Glu) | |
| 1 | g.209623888G>T | CA344588764 | LAMB3 | c.2089C>A (p.Gln697Lys) c.1897C>A (p.Gln633Lys) | |
| 1 | g.209623889A= | CA2484298421 | LAMB3 | c.2088T= (p.Tyr696=) c.1896T= (p.Tyr632=) | |
| 1 | g.209623889A>C | CA344588765 | LAMB3 | c.2088T>G (p.Tyr696Ter) c.1896T>G (p.Tyr632Ter) | |
| 1 | g.209623889A>G | CA423142262 | LAMB3 | c.2088T>C (p.Tyr696=) c.1896T>C (p.Tyr632=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623889A>T | CA344588766 | LAMB3 | c.2088T>A (p.Tyr696Ter) c.1896T>A (p.Tyr632Ter) | |
| 1 | g.209623890T>A | CA344588767 | LAMB3 | c.2087A>T (p.Tyr696Phe) c.1895A>T (p.Tyr632Phe) | |
| 1 | g.209623890T>C | CA344588768 | LAMB3 | c.2087A>G (p.Tyr696Cys) c.1895A>G (p.Tyr632Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623890T>G | CA344588769 | LAMB3 | c.2087A>C (p.Tyr696Ser) c.1895A>C (p.Tyr632Ser) | |
| 1 | g.209623890T= | CA2484298422 | LAMB3 | c.2087A= (p.Tyr696=) c.1895A= (p.Tyr632=) | |
| 1 | g.209623891A>C | CA344588770 | LAMB3 | c.2086T>G (p.Tyr696Asp) c.1894T>G (p.Tyr632Asp) | gnomAD v4 |
| 1 | g.209623891A>G | CA344588772 | LAMB3 | c.2086T>C (p.Tyr696His) c.1894T>C (p.Tyr632His) | |
| 1 | g.209623891A>T | CA344588771 | LAMB3 | c.2086T>A (p.Tyr696Asn) c.1894T>A (p.Tyr632Asn) | |
| 1 | g.209623892C>A | CA344588773 | LAMB3 | c.2085G>T (p.Met695Ile) c.1893G>T (p.Met631Ile) | |
| 1 | g.209623892C= | CA2484298423 | LAMB3 | c.2085G= (p.Met695=) c.1893G= (p.Met631=) | |
| 1 | g.209623892C>G | CA344588774 | LAMB3 | c.2085G>C (p.Met695Ile) c.1893G>C (p.Met631Ile) | |
| 1 | g.209623892C>T | CA1375386 | LAMB3 | c.2085G>A (p.Met695Ile) c.1893G>A (p.Met631Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623893A= | CA2484298424 | LAMB3 | c.2084T= (p.Met695=) c.1892T= (p.Met631=) | |
| 1 | g.209623893A>C | CA344588775 | LAMB3 | c.2084T>G (p.Met695Arg) c.1892T>G (p.Met631Arg) | gnomAD v4 |
| 1 | g.209623893A>G | CA1375387 | LAMB3 | c.2084T>C (p.Met695Thr) c.1892T>C (p.Met631Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623893A>T | CA344588776 | LAMB3 | c.2084T>A (p.Met695Lys) c.1892T>A (p.Met631Lys) | |
| 1 | g.209623894T>A | CA344588777 | LAMB3 | c.2083A>T (p.Met695Leu) c.1891A>T (p.Met631Leu) | |
| 1 | g.209623894T>C | CA36752867 | LAMB3 | c.2083A>G (p.Met695Val) c.1891A>G (p.Met631Val) | dbSNP gnomAD v4 |
| 1 | g.209623894T>G | CA344588778 | LAMB3 | c.2083A>C (p.Met695Leu) c.1891A>C (p.Met631Leu) | |
| 1 | g.209623894T= | CA1141355669 | LAMB3 | c.2083A= (p.Met695=) c.1891A= (p.Met631=) | |
| 1 | g.209623895A= | CA2484298425 | LAMB3 | c.2082T= (p.Thr694=) c.1890T= (p.Thr630=) | |
| 1 | g.209623895A>C | CA423142278 | LAMB3 | c.2082T>G (p.Thr694=) c.1890T>G (p.Thr630=) | |
| 1 | g.209623895A>G | CA1375388 | LAMB3 | c.2082T>C (p.Thr694=) c.1890T>C (p.Thr630=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623895A>T | CA423142279 | LAMB3 | c.2082T>A (p.Thr694=) c.1890T>A (p.Thr630=) | |
| 1 | g.209623896G>A | CA344588781 | LAMB3 | c.2081C>T (p.Thr694Ile) c.1889C>T (p.Thr630Ile) | |
| 1 | g.209623896G>C | CA344588780 | LAMB3 | c.2081C>G (p.Thr694Ser) c.1889C>G (p.Thr630Ser) | ClinVar |
| 1 | g.209623896G>T | CA344588779 | LAMB3 | c.2081C>A (p.Thr694Asn) c.1889C>A (p.Thr630Asn) | |
| 1 | g.209623897T>A | CA344588782 | LAMB3 | c.2080A>T (p.Thr694Ser) c.1888A>T (p.Thr630Ser) | gnomAD v4 |
| 1 | g.209623897T>C | CA344588783 | LAMB3 | c.2080A>G (p.Thr694Ala) c.1888A>G (p.Thr630Ala) | gnomAD v4 |
| 1 | g.209623897T>G | CA344588784 | LAMB3 | c.2080A>C (p.Thr694Pro) c.1888A>C (p.Thr630Pro) | |
| 1 | g.209623898A>C | CA423142293 | LAMB3 | c.2079T>G (p.Leu693=) c.1887T>G (p.Leu629=) | |
| 1 | g.209623898A>G | CA423142296 | LAMB3 | c.2079T>C (p.Leu693=) c.1887T>C (p.Leu629=) | |
| 1 | g.209623898A>T | CA423142298 | LAMB3 | c.2079T>A (p.Leu693=) c.1887T>A (p.Leu629=) | |
| 1 | g.209623899A= | CA2484298426 | LAMB3 | c.2078T= (p.Leu693=) c.1886T= (p.Leu629=) | |
| 1 | g.209623899A>C | CA344588785 | LAMB3 | c.2078T>G (p.Leu693Arg) c.1886T>G (p.Leu629Arg) | |
| 1 | g.209623899A>G | CA344588786 | LAMB3 | c.2078T>C (p.Leu693Pro) c.1886T>C (p.Leu629Pro) | |
| 1 | g.209623899A>T | CA344588787 | LAMB3 | c.2078T>A (p.Leu693His) c.1886T>A (p.Leu629His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623900G>A | CA344588788 | LAMB3 | c.2077C>T (p.Leu693Phe) c.1885C>T (p.Leu629Phe) | |
| 1 | g.209623900G>C | CA344588789 | LAMB3 | c.2077C>G (p.Leu693Val) c.1885C>G (p.Leu629Val) | |
| 1 | g.209623900G>T | CA344588790 | LAMB3 | c.2077C>A (p.Leu693Ile) c.1885C>A (p.Leu629Ile) | |
| 1 | g.209623901G>A | CA1375389 | LAMB3 | c.2076C>T (p.Leu692=) c.1884C>T (p.Leu628=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623901G>C | CA423142305 | LAMB3 | c.2076C>G (p.Leu692=) c.1884C>G (p.Leu628=) | ClinVar dbSNP |
| 1 | g.209623901G= | CA1141731162 | LAMB3 | c.2076C= (p.Leu692=) c.1884C= (p.Leu628=) | |
| 1 | g.209623901G>T | CA423142300 | LAMB3 | c.2076C>A (p.Leu692=) c.1884C>A (p.Leu628=) | |
| 1 | g.209623902A>C | CA344588791 | LAMB3 | c.2075T>G (p.Leu692Arg) c.1883T>G (p.Leu628Arg) | |
| 1 | g.209623902A>G | CA344588792 | LAMB3 | c.2075T>C (p.Leu692Pro) c.1883T>C (p.Leu628Pro) | |
| 1 | g.209623902A>T | CA344588793 | LAMB3 | c.2075T>A (p.Leu692His) c.1883T>A (p.Leu628His) | |
| 1 | g.209623903G>A | CA344588794 | LAMB3 | c.2074C>T (p.Leu692Phe) c.1882C>T (p.Leu628Phe) | |
| 1 | g.209623903G>C | CA344588796 | LAMB3 | c.2074C>G (p.Leu692Val) c.1882C>G (p.Leu628Val) | |
| 1 | g.209623903G>T | CA344588795 | LAMB3 | c.2074C>A (p.Leu692Ile) c.1882C>A (p.Leu628Ile) | |
| 1 | g.209623904A>C | CA423142323 | LAMB3 | c.2073T>G (p.Gly691=) c.1881T>G (p.Gly627=) | |
| 1 | g.209623904A>G | CA423142316 | LAMB3 | c.2073T>C (p.Gly691=) c.1881T>C (p.Gly627=) | COSMIC |
| 1 | g.209623904A>T | CA423142314 | LAMB3 | c.2073T>A (p.Gly691=) c.1881T>A (p.Gly627=) | |
| 1 | g.209623905C>A | CA344588797 | LAMB3 | c.2072G>T (p.Gly691Val) c.1880G>T (p.Gly627Val) | |
| 1 | g.209623905C= | CA2484298427 | LAMB3 | c.2072G= (p.Gly691=) c.1880G= (p.Gly627=) | |
| 1 | g.209623905C>G | CA344588798 | LAMB3 | c.2072G>C (p.Gly691Ala) c.1880G>C (p.Gly627Ala) | |
| 1 | g.209623905C>T | CA1375390 | LAMB3 | c.2072G>A (p.Gly691Asp) c.1880G>A (p.Gly627Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.209623906C>A | CA344588799 | LAMB3 | c.2071G>T (p.Gly691Cys) c.1879G>T (p.Gly627Cys) | gnomAD v4 |
| 1 | g.209623906C= | CA1141998374 | LAMB3 | c.2071G= (p.Gly691=) c.1879G= (p.Gly627=) | |
| 1 | g.209623906C>G | CA344588800 | LAMB3 | c.2071G>C (p.Gly691Arg) c.1879G>C (p.Gly627Arg) | |
| 1 | g.209623906C>T | CA1375391 | LAMB3 | c.2071G>A (p.Gly691Ser) c.1879G>A (p.Gly627Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623907A= | CA2484298428 | LAMB3 | c.2070T= (p.Asn690=) c.1878T= (p.Asn626=) | |
| 1 | g.209623907A>C | CA344588801 | LAMB3 | c.2070T>G (p.Asn690Lys) c.1878T>G (p.Asn626Lys) | |
| 1 | g.209623907A>G | CA423142343 | LAMB3 | c.2070T>C (p.Asn690=) c.1878T>C (p.Asn626=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623907A>T | CA344588802 | LAMB3 | c.2070T>A (p.Asn690Lys) c.1878T>A (p.Asn626Lys) | |
| 1 | g.209623908T>A | CA344588803 | LAMB3 | c.2069A>T (p.Asn690Ile) c.1877A>T (p.Asn626Ile) | |
| 1 | g.209623908T>C | CA1375392 | LAMB3 | c.2069A>G (p.Asn690Ser) c.1877A>G (p.Asn626Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623908T>G | CA344588804 | LAMB3 | c.2069A>C (p.Asn690Thr) c.1877A>C (p.Asn626Thr) | dbSNP |
| 1 | g.209623908T= | CA1139922145 | LAMB3 | c.2069A= (p.Asn690=) c.1877A= (p.Asn626=) | |
| 1 | g.209623909T>A | CA344588806 | LAMB3 | c.2068A>T (p.Asn690Tyr) c.1876A>T (p.Asn626Tyr) | |
| 1 | g.209623909T>C | CA344588807 | LAMB3 | c.2068A>G (p.Asn690Asp) c.1876A>G (p.Asn626Asp) | |
| 1 | g.209623909T>G | CA344588805 | LAMB3 | c.2068A>C (p.Asn690His) c.1876A>C (p.Asn626His) | |
| 1 | g.209623910G>A | CA423142349 | LAMB3 | c.2067C>T (p.Phe689=) c.1875C>T (p.Phe625=) | |
| 1 | g.209623910G>C | CA344588809 | LAMB3 | c.2067C>G (p.Phe689Leu) c.1875C>G (p.Phe625Leu) | |
| 1 | g.209623910G>T | CA344588808 | LAMB3 | c.2067C>A (p.Phe689Leu) c.1875C>A (p.Phe625Leu) | |
| 1 | g.209623911A= | CA1142286285 | LAMB3 | c.2066T= (p.Phe689=) c.1874T= (p.Phe625=) | |
| 1 | g.209623911A>C | CA344588810 | LAMB3 | c.2066T>G (p.Phe689Cys) c.1874T>G (p.Phe625Cys) | |
| 1 | g.209623911A>G | CA1375393 | LAMB3 | c.2066T>C (p.Phe689Ser) c.1874T>C (p.Phe625Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623911A>T | CA344588811 | LAMB3 | c.2066T>A (p.Phe689Tyr) c.1874T>A (p.Phe625Tyr) | |
| 1 | g.209623912A>C | CA344588812 | LAMB3 | c.2065T>G (p.Phe689Val) c.1873T>G (p.Phe625Val) | |
| 1 | g.209623912A>G | CA344588813 | LAMB3 | c.2065T>C (p.Phe689Leu) c.1873T>C (p.Phe625Leu) | |
| 1 | g.209623912A>T | CA344588814 | LAMB3 | c.2065T>A (p.Phe689Ile) c.1873T>A (p.Phe625Ile) | |
| 1 | g.209623913G>A | CA423142359 | LAMB3 | c.2064C>T (p.Ser688=) c.1872C>T (p.Ser624=) | gnomAD v4 |
| 1 | g.209623913G>C | CA344588815 | LAMB3 | c.2064C>G (p.Ser688Arg) c.1872C>G (p.Ser624Arg) | |
| 1 | g.209623913G>T | CA344588816 | LAMB3 | c.2064C>A (p.Ser688Arg) c.1872C>A (p.Ser624Arg) | |
| 1 | g.209623914C>A | CA344588817 | LAMB3 | c.2063G>T (p.Ser688Ile) c.1871G>T (p.Ser624Ile) | |
| 1 | g.209623914C= | CA1146103806 | LAMB3 | c.2063G= (p.Ser688=) c.1871G= (p.Ser624=) | |
| 1 | g.209623914C>G | CA344588818 | LAMB3 | c.2063G>C (p.Ser688Thr) c.1871G>C (p.Ser624Thr) | |
| 1 | g.209623914C>T | CA1375394 | LAMB3 | c.2063G>A (p.Ser688Asn) c.1871G>A (p.Ser624Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623915T>A | CA344588819 | LAMB3 | c.2062A>T (p.Ser688Cys) c.1870A>T (p.Ser624Cys) | |
| 1 | g.209623915T>C | CA344588820 | LAMB3 | c.2062A>G (p.Ser688Gly) c.1870A>G (p.Ser624Gly) | |
| 1 | g.209623915T>G | CA344588821 | LAMB3 | c.2062A>C (p.Ser688Arg) c.1870A>C (p.Ser624Arg) | |
| 1 | g.209623916T>A | CA344588822 | LAMB3 | c.2061A>T (p.Arg687Ser) c.1869A>T (p.Arg623Ser) | |
| 1 | g.209623916T>C | CA423142370 | LAMB3 | c.2061A>G (p.Arg687=) c.1869A>G (p.Arg623=) | |
| 1 | g.209623916T>G | CA344588823 | LAMB3 | c.2061A>C (p.Arg687Ser) c.1869A>C (p.Arg623Ser) | |
| 1 | g.209623917C>A | CA344588824 | LAMB3 | c.2060G>T (p.Arg687Ile) c.1868G>T (p.Arg623Ile) | dbSNP gnomAD v2 |
| 1 | g.209623917C= | CA2484298429 | LAMB3 | c.2060G= (p.Arg687=) c.1868G= (p.Arg623=) | |
| 1 | g.209623917C>G | CA344588825 | LAMB3 | c.2060G>C (p.Arg687Thr) c.1868G>C (p.Arg623Thr) | |
| 1 | g.209623917C>T | CA344588826 | LAMB3 | c.2060G>A (p.Arg687Lys) c.1868G>A (p.Arg623Lys) | |
| 1 | g.209623918T>A | CA344588827 | LAMB3 | c.2059A>T (p.Arg687Ter) c.1867A>T (p.Arg623Ter) | |
| 1 | g.209623918T>C | CA344588828 | LAMB3 | c.2059A>G (p.Arg687Gly) c.1867A>G (p.Arg623Gly) | gnomAD v4 |
| 1 | g.209623918T>G | CA423142372 | LAMB3 | c.2059A>C (p.Arg687=) c.1867A>C (p.Arg623=) | ClinVar |
| 1 | g.209623919G>A | CA423142374 | LAMB3 | c.2058C>T (p.Asp686=) c.1866C>T (p.Asp622=) | COSMIC |
| 1 | g.209623919G>C | CA344588829 | LAMB3 | c.2058C>G (p.Asp686Glu) c.1866C>G (p.Asp622Glu) | gnomAD v4 |
| 1 | g.209623919G>T | CA344588830 | LAMB3 | c.2058C>A (p.Asp686Glu) c.1866C>A (p.Asp622Glu) | dbSNP |
| 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) |