| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.32997210C>A | CA352000479 | GLB1 | c.1869G>T (p.Trp623Cys) c.1476G>T (p.Trp492Cys) c.1779G>T (p.Trp593Cys) c.2013G>T (p.Trp671Cys) c.1734+16846G>T (n.1734+16846G>T) | |
| 3 | g.32997210C>G | CA352000480 | GLB1 | c.1869G>C (p.Trp623Cys) c.1476G>C (p.Trp492Cys) c.1779G>C (p.Trp593Cys) c.2013G>C (p.Trp671Cys) c.1734+16846G>C (n.1734+16846G>C) | |
| 3 | g.32997210C>T | CA352000481 | GLB1 | c.1869G>A (p.Trp623Ter) c.1476G>A (p.Trp492Ter) c.1779G>A (p.Trp593Ter) c.2013G>A (p.Trp671Ter) c.1734+16846G>A (n.1734+16846G>A) | |
| 3 | g.32997211C>A | CA352000484 | GLB1 | c.1868G>T (p.Trp623Leu) c.1475G>T (p.Trp492Leu) c.1778G>T (p.Trp593Leu) c.2012G>T (p.Trp671Leu) c.1734+16845G>T (n.1734+16845G>T) | |
| 3 | g.32997211C>G | CA352000486 | GLB1 | c.1868G>C (p.Trp623Ser) c.1475G>C (p.Trp492Ser) c.1778G>C (p.Trp593Ser) c.2012G>C (p.Trp671Ser) c.1734+16845G>C (n.1734+16845G>C) | |
| 3 | g.32997211C>T | CA352000488 | GLB1 | c.1868G>A (p.Trp623Ter) c.1475G>A (p.Trp492Ter) c.1778G>A (p.Trp593Ter) c.2012G>A (p.Trp671Ter) c.1734+16845G>A (n.1734+16845G>A) | |
| 3 | g.32997212A= | CA1355976944 | GLB1 | c.1867T= (p.Trp623=) c.1474T= (p.Trp492=) c.1777T= (p.Trp593=) c.2011T= (p.Trp671=) c.1734+16844T= (n.1734+16844T=) | |
| 3 | g.32997212A>C | CA352000491 | GLB1 | c.1867T>G (p.Trp623Gly) c.1474T>G (p.Trp492Gly) c.1777T>G (p.Trp593Gly) c.2011T>G (p.Trp671Gly) c.1734+16844T>G (n.1734+16844T>G) | |
| 3 | g.32997212A>G | CA352000492 | GLB1 | c.1867T>C (p.Trp623Arg) c.1474T>C (p.Trp492Arg) c.1777T>C (p.Trp593Arg) c.2011T>C (p.Trp671Arg) c.1734+16844T>C (n.1734+16844T>C) | dbSNP |
| 3 | g.32997212A>T | CA352000493 | GLB1 | c.1867T>A (p.Trp623Arg) c.1474T>A (p.Trp492Arg) c.1777T>A (p.Trp593Arg) c.2011T>A (p.Trp671Arg) c.1734+16844T>A (n.1734+16844T>A) | |
| 3 | g.32997213C>A | CA352000498 | GLB1 | c.1866G>T (p.Glu622Asp) c.1473G>T (p.Glu491Asp) c.1776G>T (p.Glu592Asp) c.2010G>T (p.Glu670Asp) c.1734+16843G>T (n.1734+16843G>T) | |
| 3 | g.32997213C= | CA1355976945 | GLB1 | c.1866G= (p.Glu622=) c.1473G= (p.Glu491=) c.1776G= (p.Glu592=) c.2010G= (p.Glu670=) c.1734+16843G= (n.1734+16843G=) | |
| 3 | g.32997213C>G | CA352000495 | GLB1 | c.1866G>C (p.Glu622Asp) c.1473G>C (p.Glu491Asp) c.1776G>C (p.Glu592Asp) c.2010G>C (p.Glu670Asp) c.1734+16843G>C (n.1734+16843G>C) | dbSNP |
| 3 | g.32997213C>T | CA2299282 | GLB1 | c.1866G>A (p.Glu622=) c.1473G>A (p.Glu491=) c.1776G>A (p.Glu592=) c.2010G>A (p.Glu670=) c.1734+16843G>A (n.1734+16843G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.32997214T>A | CA352000500 | GLB1 | c.1865A>T (p.Glu622Val) c.1472A>T (p.Glu491Val) c.1775A>T (p.Glu592Val) c.2009A>T (p.Glu670Val) c.1734+16842A>T (n.1734+16842A>T) | |
| 3 | g.32997214T>C | CA352000501 | GLB1 | c.1865A>G (p.Glu622Gly) c.1472A>G (p.Glu491Gly) c.1775A>G (p.Glu592Gly) c.2009A>G (p.Glu670Gly) c.1734+16842A>G (n.1734+16842A>G) | |
| 3 | g.32997214T>G | CA352000503 | GLB1 | c.1865A>C (p.Glu622Ala) c.1472A>C (p.Glu491Ala) c.1775A>C (p.Glu592Ala) c.2009A>C (p.Glu670Ala) c.1734+16842A>C (n.1734+16842A>C) | |
| 3 | g.32997219_32997224dup | CA2664926659 | GLB1 | c.1860_1865dup (p.Glu622_Trp623insLeuGlu) c.1467_1472dup (p.Glu491_Trp492insLeuGlu) c.1770_1775dup (p.Glu592_Trp593insLeuGlu) c.2004_2009dup (p.Glu670_Trp671insLeuGlu) c.1734+16837_1734+16842dup (n.1734+16837_1734+16842dup) | gnomAD v4 |
| 3 | g.32997215C>A | CA352000505 | GLB1 | c.1864G>T (p.Glu622Ter) c.1471G>T (p.Glu491Ter) c.1774G>T (p.Glu592Ter) c.2008G>T (p.Glu670Ter) c.1734+16841G>T (n.1734+16841G>T) | |
| 3 | g.32997215C>G | CA352000507 | GLB1 | c.1864G>C (p.Glu622Gln) c.1471G>C (p.Glu491Gln) c.1774G>C (p.Glu592Gln) c.2008G>C (p.Glu670Gln) c.1734+16841G>C (n.1734+16841G>C) | |
| 3 | g.32997215C>T | CA352000509 | GLB1 | c.1864G>A (p.Glu622Lys) c.1471G>A (p.Glu491Lys) c.1774G>A (p.Glu592Lys) c.2008G>A (p.Glu670Lys) c.1734+16841G>A (n.1734+16841G>A) | |
| 3 | g.32997216C>A | CA432960297 | GLB1 | c.1863G>T (p.Leu621=) c.1470G>T (p.Leu490=) c.1773G>T (p.Leu591=) c.2007G>T (p.Leu669=) c.1734+16840G>T (n.1734+16840G>T) | |
| 3 | g.32997216C>G | CA432960298 | GLB1 | c.1863G>C (p.Leu621=) c.1470G>C (p.Leu490=) c.1773G>C (p.Leu591=) c.2007G>C (p.Leu669=) c.1734+16840G>C (n.1734+16840G>C) | |
| 3 | g.32997216C>T | CA432960299 | GLB1 | c.1863G>A (p.Leu621=) c.1470G>A (p.Leu490=) c.1773G>A (p.Leu591=) c.2007G>A (p.Leu669=) c.1734+16840G>A (n.1734+16840G>A) | |
| 3 | g.32997217A>C | CA352000511 | GLB1 | c.1862T>G (p.Leu621Arg) c.1469T>G (p.Leu490Arg) c.1772T>G (p.Leu591Arg) c.2006T>G (p.Leu669Arg) c.1734+16839T>G (n.1734+16839T>G) | |
| 3 | g.32997217A>G | CA352000513 | GLB1 | c.1862T>C (p.Leu621Pro) c.1469T>C (p.Leu490Pro) c.1772T>C (p.Leu591Pro) c.2006T>C (p.Leu669Pro) c.1734+16839T>C (n.1734+16839T>C) | |
| 3 | g.32997217A>T | CA352000515 | GLB1 | c.1862T>A (p.Leu621Gln) c.1469T>A (p.Leu490Gln) c.1772T>A (p.Leu591Gln) c.2006T>A (p.Leu669Gln) c.1734+16839T>A (n.1734+16839T>A) | |
| 3 | g.32997218G>A | CA2299283 | GLB1 | c.1861C>T (p.Leu621=) c.1468C>T (p.Leu490=) c.1771C>T (p.Leu591=) c.2005C>T (p.Leu669=) c.1734+16838C>T (n.1734+16838C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.32997218G>C | CA2299284 | GLB1 | c.1861C>G (p.Leu621Val) c.1468C>G (p.Leu490Val) c.1771C>G (p.Leu591Val) c.2005C>G (p.Leu669Val) c.1734+16838C>G (n.1734+16838C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.32997218G= | CA1355976946 | GLB1 | c.1861C= (p.Leu621=) c.1468C= (p.Leu490=) c.1771C= (p.Leu591=) c.2005C= (p.Leu669=) c.1734+16838C= (n.1734+16838C=) | |
| 3 | g.32997218G>T | CA352000517 | GLB1 | c.1861C>A (p.Leu621Met) c.1468C>A (p.Leu490Met) c.1771C>A (p.Leu591Met) c.2005C>A (p.Leu669Met) c.1734+16838C>A (n.1734+16838C>A) | |
| 3 | g.32997219T>A | CA352000519 | GLB1 | c.1860A>T (p.Glu620Asp) c.1467A>T (p.Glu489Asp) c.1770A>T (p.Glu590Asp) c.2004A>T (p.Glu668Asp) c.1734+16837A>T (n.1734+16837A>T) | |
| 3 | g.32997219T>C | CA432960300 | GLB1 | c.1860A>G (p.Glu620=) c.1467A>G (p.Glu489=) c.1770A>G (p.Glu590=) c.2004A>G (p.Glu668=) c.1734+16837A>G (n.1734+16837A>G) | |
| 3 | g.32997219T>G | CA352000521 | GLB1 | c.1860A>C (p.Glu620Asp) c.1467A>C (p.Glu489Asp) c.1770A>C (p.Glu590Asp) c.2004A>C (p.Glu668Asp) c.1734+16837A>C (n.1734+16837A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.32997219T= | CA1355976947 | GLB1 | c.1860A= (p.Glu620=) c.1467A= (p.Glu489=) c.1770A= (p.Glu590=) c.2004A= (p.Glu668=) c.1734+16837A= (n.1734+16837A=) | |
| 3 | g.32997220T>A | CA352000523 | GLB1 | c.1859A>T (p.Glu620Val) c.1466A>T (p.Glu489Val) c.1769A>T (p.Glu590Val) c.2003A>T (p.Glu668Val) c.1734+16836A>T (n.1734+16836A>T) | |
| 3 | g.32997220T>C | CA352000525 | GLB1 | c.1859A>G (p.Glu620Gly) c.1466A>G (p.Glu489Gly) c.1769A>G (p.Glu590Gly) c.2003A>G (p.Glu668Gly) c.1734+16836A>G (n.1734+16836A>G) | gnomAD v4 |
| 3 | g.32997220T>G | CA352000527 | GLB1 | c.1859A>C (p.Glu620Ala) c.1466A>C (p.Glu489Ala) c.1769A>C (p.Glu590Ala) c.2003A>C (p.Glu668Ala) c.1734+16836A>C (n.1734+16836A>C) | |
| 3 | g.32997221C>A | CA352000530 | GLB1 | c.1858G>T (p.Glu620Ter) c.1465G>T (p.Glu489Ter) c.1768G>T (p.Glu590Ter) c.2002G>T (p.Glu668Ter) c.1734+16835G>T (n.1734+16835G>T) | |
| 3 | g.32997221C>G | CA352000531 | GLB1 | c.1858G>C (p.Glu620Gln) c.1465G>C (p.Glu489Gln) c.1768G>C (p.Glu590Gln) c.2002G>C (p.Glu668Gln) c.1734+16835G>C (n.1734+16835G>C) | |
| 3 | g.32997221C>T | CA352000533 | GLB1 | c.1858G>A (p.Glu620Lys) c.1465G>A (p.Glu489Lys) c.1768G>A (p.Glu590Lys) c.2002G>A (p.Glu668Lys) c.1734+16835G>A (n.1734+16835G>A) | |
| 3 | g.32997222C>A | CA432960306 | GLB1 | c.1857G>T (p.Leu619=) c.1464G>T (p.Leu488=) c.1767G>T (p.Leu589=) c.2001G>T (p.Leu667=) c.1734+16834G>T (n.1734+16834G>T) | |
| 3 | g.32997222C>G | CA432960307 | GLB1 | c.1857G>C (p.Leu619=) c.1464G>C (p.Leu488=) c.1767G>C (p.Leu589=) c.2001G>C (p.Leu667=) c.1734+16834G>C (n.1734+16834G>C) | |
| 3 | g.32997222C>T | CA432960308 | GLB1 | c.1857G>A (p.Leu619=) c.1464G>A (p.Leu488=) c.1767G>A (p.Leu589=) c.2001G>A (p.Leu667=) c.1734+16834G>A (n.1734+16834G>A) | |
| 3 | g.32997223A>C | CA352000536 | GLB1 | c.1856T>G (p.Leu619Arg) c.1463T>G (p.Leu488Arg) c.1766T>G (p.Leu589Arg) c.2000T>G (p.Leu667Arg) c.1734+16833T>G (n.1734+16833T>G) | |
| 3 | g.32997223A>G | CA352000537 | GLB1 | c.1856T>C (p.Leu619Pro) c.1463T>C (p.Leu488Pro) c.1766T>C (p.Leu589Pro) c.2000T>C (p.Leu667Pro) c.1734+16833T>C (n.1734+16833T>C) | |
| 3 | g.32997223A>T | CA352000538 | GLB1 | c.1856T>A (p.Leu619Gln) c.1463T>A (p.Leu488Gln) c.1766T>A (p.Leu589Gln) c.2000T>A (p.Leu667Gln) c.1734+16833T>A (n.1734+16833T>A) | |
| 3 | g.32997224G>A | CA432960310 | GLB1 | c.1855C>T (p.Leu619=) c.1462C>T (p.Leu488=) c.1765C>T (p.Leu589=) c.1999C>T (p.Leu667=) c.1734+16832C>T (n.1734+16832C>T) | ClinVar |
| 3 | g.32997224G>C | CA352000540 | GLB1 | c.1855C>G (p.Leu619Val) c.1462C>G (p.Leu488Val) c.1765C>G (p.Leu589Val) c.1999C>G (p.Leu667Val) c.1734+16832C>G (n.1734+16832C>G) | |
| 3 | g.32997224G>T | CA352000542 | GLB1 | c.1855C>A (p.Leu619Met) c.1462C>A (p.Leu488Met) c.1765C>A (p.Leu589Met) c.1999C>A (p.Leu667Met) c.1734+16832C>A (n.1734+16832C>A) | ClinVar |