| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.32997310del | CA2664926661 | GLB1 | c.1769del (p.Arg590ProfsTer10) c.1376del (p.Arg459ProfsTer10) c.1679del (p.Arg560ProfsTer10) c.1913del (p.Arg638ProfsTer10) c.1734+16746del (n.1734+16746del) | gnomAD v4 |
| 3 | g.32997310C>A | CA352000783 | GLB1 | c.1769G>T (p.Arg590Leu) c.1376G>T (p.Arg459Leu) c.1679G>T (p.Arg560Leu) c.1913G>T (p.Arg638Leu) c.1734+16746G>T (n.1734+16746G>T) | |
| 3 | g.32997310C= | CA1355976983 | GLB1 | c.1769G= (p.Arg590=) c.1376G= (p.Arg459=) c.1679G= (p.Arg560=) c.1913G= (p.Arg638=) c.1734+16746G= (n.1734+16746G=) | |
| 3 | g.32997310C>G | CA352000784 | GLB1 | c.1769G>C (p.Arg590Pro) c.1376G>C (p.Arg459Pro) c.1679G>C (p.Arg560Pro) c.1913G>C (p.Arg638Pro) c.1734+16746G>C (n.1734+16746G>C) | |
| 3 | g.32997310C>T | CA201251 | GLB1 | c.1769G>A (p.Arg590His) c.1376G>A (p.Arg459His) c.1679G>A (p.Arg560His) c.1913G>A (p.Arg638His) c.1734+16746G>A (n.1734+16746G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997311G>A | CA201253 | GLB1 | c.1768C>T (p.Arg590Cys) c.1375C>T (p.Arg459Cys) c.1678C>T (p.Arg560Cys) c.1912C>T (p.Arg638Cys) c.1734+16745C>T (n.1734+16745C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997311G>C | CA352000785 | GLB1 | c.1768C>G (p.Arg590Gly) c.1375C>G (p.Arg459Gly) c.1678C>G (p.Arg560Gly) c.1912C>G (p.Arg638Gly) c.1734+16745C>G (n.1734+16745C>G) | ClinVar |
| 3 | g.32997311G= | CA1355976984 | GLB1 | c.1768C= (p.Arg590=) c.1375C= (p.Arg459=) c.1678C= (p.Arg560=) c.1912C= (p.Arg638=) c.1734+16745C= (n.1734+16745C=) | |
| 3 | g.32997311G>T | CA352000786 | GLB1 | c.1768C>A (p.Arg590Ser) c.1375C>A (p.Arg459Ser) c.1678C>A (p.Arg560Ser) c.1912C>A (p.Arg638Ser) c.1734+16745C>A (n.1734+16745C>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.32997312G>A | CA2299299 | GLB1 | c.1767C>T (p.Gly589=) c.1374C>T (p.Gly458=) c.1677C>T (p.Gly559=) c.1911C>T (p.Gly637=) c.1734+16744C>T (n.1734+16744C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997312G>C | CA432960436 | GLB1 | c.1767C>G (p.Gly589=) c.1374C>G (p.Gly458=) c.1677C>G (p.Gly559=) c.1911C>G (p.Gly637=) c.1734+16744C>G (n.1734+16744C>G) | |
| 3 | g.32997312G= | CA1355976985 | GLB1 | c.1767C= (p.Gly589=) c.1374C= (p.Gly458=) c.1677C= (p.Gly559=) c.1911C= (p.Gly637=) c.1734+16744C= (n.1734+16744C=) | |
| 3 | g.32997312G>T | CA432960435 | GLB1 | c.1767C>A (p.Gly589=) c.1374C>A (p.Gly458=) c.1677C>A (p.Gly559=) c.1911C>A (p.Gly637=) c.1734+16744C>A (n.1734+16744C>A) | |
| 3 | g.32997313C>A | CA352000787 | GLB1 | c.1766G>T (p.Gly589Val) c.1373G>T (p.Gly458Val) c.1676G>T (p.Gly559Val) c.1910G>T (p.Gly637Val) c.1734+16743G>T (n.1734+16743G>T) | |
| 3 | g.32997313C= | CA1355976986 | GLB1 | c.1766G= (p.Gly589=) c.1373G= (p.Gly458=) c.1676G= (p.Gly559=) c.1910G= (p.Gly637=) c.1734+16743G= (n.1734+16743G=) | |
| 3 | g.32997313C>G | CA72667259 | GLB1 | c.1766G>C (p.Gly589Ala) c.1373G>C (p.Gly458Ala) c.1676G>C (p.Gly559Ala) c.1910G>C (p.Gly637Ala) c.1734+16743G>C (n.1734+16743G>C) | dbSNP |
| 3 | g.32997313C>T | CA352000788 | GLB1 | c.1766G>A (p.Gly589Asp) c.1373G>A (p.Gly458Asp) c.1676G>A (p.Gly559Asp) c.1910G>A (p.Gly637Asp) c.1734+16743G>A (n.1734+16743G>A) | gnomAD v4 |
| 3 | g.32997314C>A | CA352000790 | GLB1 | c.1765G>T (p.Gly589Cys) c.1372G>T (p.Gly458Cys) c.1675G>T (p.Gly559Cys) c.1909G>T (p.Gly637Cys) c.1734+16742G>T (n.1734+16742G>T) | |
| 3 | g.32997314C>G | CA352000791 | GLB1 | c.1765G>C (p.Gly589Arg) c.1372G>C (p.Gly458Arg) c.1675G>C (p.Gly559Arg) c.1909G>C (p.Gly637Arg) c.1734+16742G>C (n.1734+16742G>C) | |
| 3 | g.32997314C>T | CA352000789 | GLB1 | c.1765G>A (p.Gly589Ser) c.1372G>A (p.Gly458Ser) c.1675G>A (p.Gly559Ser) c.1909G>A (p.Gly637Ser) c.1734+16742G>A (n.1734+16742G>A) | |
| 3 | g.32997315A>C | CA432960437 | GLB1 | c.1764T>G (p.Leu588=) c.1371T>G (p.Leu457=) c.1674T>G (p.Leu558=) c.1908T>G (p.Leu636=) c.1734+16741T>G (n.1734+16741T>G) | gnomAD v4 |
| 3 | g.32997315A>G | CA432960438 | GLB1 | c.1764T>C (p.Leu588=) c.1371T>C (p.Leu457=) c.1674T>C (p.Leu558=) c.1908T>C (p.Leu636=) c.1734+16741T>C (n.1734+16741T>C) | ClinVar dbSNP |
| 3 | g.32997315A>T | CA432960439 | GLB1 | c.1764T>A (p.Leu588=) c.1371T>A (p.Leu457=) c.1674T>A (p.Leu558=) c.1908T>A (p.Leu636=) c.1734+16741T>A (n.1734+16741T>A) | |
| 3 | g.32997316A>C | CA352000794 | GLB1 | c.1763T>G (p.Leu588Arg) c.1370T>G (p.Leu457Arg) c.1673T>G (p.Leu558Arg) c.1907T>G (p.Leu636Arg) c.1734+16740T>G (n.1734+16740T>G) | dbSNP |
| 3 | g.32997316A>G | CA352000792 | GLB1 | c.1763T>C (p.Leu588Pro) c.1370T>C (p.Leu457Pro) c.1673T>C (p.Leu558Pro) c.1907T>C (p.Leu636Pro) c.1734+16740T>C (n.1734+16740T>C) | |
| 3 | g.32997316A>T | CA352000793 | GLB1 | c.1763T>A (p.Leu588His) c.1370T>A (p.Leu457His) c.1673T>A (p.Leu558His) c.1907T>A (p.Leu636His) c.1734+16740T>A (n.1734+16740T>A) | |
| 3 | g.32997317G>A | CA352000795 | GLB1 | c.1762C>T (p.Leu588Phe) c.1369C>T (p.Leu457Phe) c.1672C>T (p.Leu558Phe) c.1906C>T (p.Leu636Phe) c.1734+16739C>T (n.1734+16739C>T) | |
| 3 | g.32997317G>C | CA352000796 | GLB1 | c.1762C>G (p.Leu588Val) c.1369C>G (p.Leu457Val) c.1672C>G (p.Leu558Val) c.1906C>G (p.Leu636Val) c.1734+16739C>G (n.1734+16739C>G) | dbSNP gnomAD v4 |
| 3 | g.32997317G= | CA1355976987 | GLB1 | c.1762C= (p.Leu588=) c.1369C= (p.Leu457=) c.1672C= (p.Leu558=) c.1906C= (p.Leu636=) c.1734+16739C= (n.1734+16739C=) | |
| 3 | g.32997317G>T | CA352000797 | GLB1 | c.1762C>A (p.Leu588Ile) c.1369C>A (p.Leu457Ile) c.1672C>A (p.Leu558Ile) c.1906C>A (p.Leu636Ile) c.1734+16739C>A (n.1734+16739C>A) | COSMIC COSMIC |
| 3 | g.32997318G>A | CA432960440 | GLB1 | c.1761C>T (p.Asn587=) c.1368C>T (p.Asn456=) c.1671C>T (p.Asn557=) c.1905C>T (p.Asn635=) c.1734+16738C>T (n.1734+16738C>T) | ClinVar |
| 3 | g.32997318G>C | CA352000798 | GLB1 | c.1761C>G (p.Asn587Lys) c.1368C>G (p.Asn456Lys) c.1671C>G (p.Asn557Lys) c.1905C>G (p.Asn635Lys) c.1734+16738C>G (n.1734+16738C>G) | |
| 3 | g.32997318G>T | CA352000799 | GLB1 | c.1761C>A (p.Asn587Lys) c.1368C>A (p.Asn456Lys) c.1671C>A (p.Asn557Lys) c.1905C>A (p.Asn635Lys) c.1734+16738C>A (n.1734+16738C>A) | |
| 3 | g.32997319T>A | CA352000802 | GLB1 | c.1760A>T (p.Asn587Ile) c.1367A>T (p.Asn456Ile) c.1670A>T (p.Asn557Ile) c.1904A>T (p.Asn635Ile) c.1734+16737A>T (n.1734+16737A>T) | |
| 3 | g.32997319T>C | CA352000800 | GLB1 | c.1760A>G (p.Asn587Ser) c.1367A>G (p.Asn456Ser) c.1670A>G (p.Asn557Ser) c.1904A>G (p.Asn635Ser) c.1734+16737A>G (n.1734+16737A>G) | |
| 3 | g.32997319T>G | CA352000801 | GLB1 | c.1760A>C (p.Asn587Thr) c.1367A>C (p.Asn456Thr) c.1670A>C (p.Asn557Thr) c.1904A>C (p.Asn635Thr) c.1734+16737A>C (n.1734+16737A>C) | |
| 3 | g.32997320T>A | CA352000803 | GLB1 | c.1759A>T (p.Asn587Tyr) c.1366A>T (p.Asn456Tyr) c.1669A>T (p.Asn557Tyr) c.1903A>T (p.Asn635Tyr) c.1734+16736A>T (n.1734+16736A>T) | |
| 3 | g.32997320T>C | CA352000804 | GLB1 | c.1759A>G (p.Asn587Asp) c.1366A>G (p.Asn456Asp) c.1669A>G (p.Asn557Asp) c.1903A>G (p.Asn635Asp) c.1734+16736A>G (n.1734+16736A>G) | |
| 3 | g.32997320T>G | CA352000805 | GLB1 | c.1759A>C (p.Asn587His) c.1366A>C (p.Asn456His) c.1669A>C (p.Asn557His) c.1903A>C (p.Asn635His) c.1734+16736A>C (n.1734+16736A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.32997320T= | CA1355976988 | GLB1 | c.1759A= (p.Asn587=) c.1366A= (p.Asn456=) c.1669A= (p.Asn557=) c.1903A= (p.Asn635=) c.1734+16736A= (n.1734+16736A=) | |
| 3 | g.32997321A>C | CA352000806 | GLB1 | c.1758T>G (p.Phe586Leu) c.1365T>G (p.Phe455Leu) c.1668T>G (p.Phe556Leu) c.1902T>G (p.Phe634Leu) c.1734+16735T>G (n.1734+16735T>G) | |
| 3 | g.32997321A>G | CA432960441 | GLB1 | c.1758T>C (p.Phe586=) c.1365T>C (p.Phe455=) c.1668T>C (p.Phe556=) c.1902T>C (p.Phe634=) c.1734+16735T>C (n.1734+16735T>C) | |
| 3 | g.32997321A>T | CA352000807 | GLB1 | c.1758T>A (p.Phe586Leu) c.1365T>A (p.Phe455Leu) c.1668T>A (p.Phe556Leu) c.1902T>A (p.Phe634Leu) c.1734+16735T>A (n.1734+16735T>A) | |
| 3 | g.32997322A>C | CA352000808 | GLB1 | c.1757T>G (p.Phe586Cys) c.1364T>G (p.Phe455Cys) c.1667T>G (p.Phe556Cys) c.1901T>G (p.Phe634Cys) c.1734+16734T>G (n.1734+16734T>G) | |
| 3 | g.32997322A>G | CA352000810 | GLB1 | c.1757T>C (p.Phe586Ser) c.1364T>C (p.Phe455Ser) c.1667T>C (p.Phe556Ser) c.1901T>C (p.Phe634Ser) c.1734+16734T>C (n.1734+16734T>C) | |
| 3 | g.32997322A>T | CA352000809 | GLB1 | c.1757T>A (p.Phe586Tyr) c.1364T>A (p.Phe455Tyr) c.1667T>A (p.Phe556Tyr) c.1901T>A (p.Phe634Tyr) c.1734+16734T>A (n.1734+16734T>A) | |
| 3 | g.32997323A>C | CA352000811 | GLB1 | c.1756T>G (p.Phe586Val) c.1363T>G (p.Phe455Val) c.1666T>G (p.Phe556Val) c.1900T>G (p.Phe634Val) c.1734+16733T>G (n.1734+16733T>G) | |
| 3 | g.32997323A>G | CA352000812 | GLB1 | c.1756T>C (p.Phe586Leu) c.1363T>C (p.Phe455Leu) c.1666T>C (p.Phe556Leu) c.1900T>C (p.Phe634Leu) c.1734+16733T>C (n.1734+16733T>C) | |
| 3 | g.32997323A>T | CA352000813 | GLB1 | c.1756T>A (p.Phe586Ile) c.1363T>A (p.Phe455Ile) c.1666T>A (p.Phe556Ile) c.1900T>A (p.Phe634Ile) c.1734+16733T>A (n.1734+16733T>A) | |
| 3 | g.32997324G>A | CA432960442 | GLB1 | c.1755C>T (p.Gly585=) c.1362C>T (p.Gly454=) c.1665C>T (p.Gly555=) c.1899C>T (p.Gly633=) c.1734+16732C>T (n.1734+16732C>T) |