| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209623849_209623869del | CA913072630 | LAMB3 | c.2108_2128del (p.Phe703_Asp710delinsTyr) c.1916_1936del (p.Phe639_Asp646delinsTyr) | |
| 1 | g.209623849_209623869delinsCAGCACTGCTTATTTTTTCAA | CA2484298409 | LAMB3 | c.2108_2128delinsTTGAAAAAATAAGCAGTGCTG (p.Phe703=) c.1916_1936delinsTTGAAAAAATAAGCAGTGCTG (p.Phe639=) | |
| 1 | g.209623851_209623870del | CA658822565 | LAMB3 | c.2108_2127del (p.Phe703Ter) c.1916_1935del (p.Phe639Ter) | ClinVar dbSNP |
| 1 | g.209623869A= | CA2484298418 | LAMB3 | c.2108T= (p.Phe703=) c.1916T= (p.Phe639=) | |
| 1 | g.209623869A>C | CA344588715 | LAMB3 | c.2108T>G (p.Phe703Cys) c.1916T>G (p.Phe639Cys) | |
| 1 | g.209623869A>G | CA1375383 | LAMB3 | c.2108T>C (p.Phe703Ser) c.1916T>C (p.Phe639Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623869A>T | CA344588716 | LAMB3 | c.2108T>A (p.Phe703Tyr) c.1916T>A (p.Phe639Tyr) | |
| 1 | g.209623870A>C | CA344588717 | LAMB3 | c.2107T>G (p.Phe703Val) c.1915T>G (p.Phe639Val) | |
| 1 | g.209623870A>G | CA344588718 | LAMB3 | c.2107T>C (p.Phe703Leu) c.1915T>C (p.Phe639Leu) | |
| 1 | g.209623870A>T | CA344588719 | LAMB3 | c.2107T>A (p.Phe703Ile) c.1915T>A (p.Phe639Ile) | |
| 1 | g.209623871del | CA2586964548 | LAMB3 | c.2106del (p.Gln702HisfsTer5) c.1914del (p.Gln638HisfsTer5) | |
| 1 | g.209623871C>A | CA344588720 | LAMB3 | c.2106G>T (p.Gln702His) c.1914G>T (p.Gln638His) | |
| 1 | g.209623871C>G | CA344588721 | LAMB3 | c.2106G>C (p.Gln702His) c.1914G>C (p.Gln638His) | |
| 1 | g.209623871C>T | CA423142199 | LAMB3 | c.2106G>A (p.Gln702=) c.1914G>A (p.Gln638=) | ClinVar dbSNP gnomAD v4 |
| 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 |