Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.108209465G>A | CA388615946 | LIG4 | c.1603C>T (p.Leu535Phe) c.1804C>T (p.Leu602Phe) c.1840C>T (p.Leu614Phe) c.1816C>T (p.Leu606Phe) | |
13 | g.108209465G>C | CA388615949 | LIG4 | c.1603C>G (p.Leu535Val) c.1804C>G (p.Leu602Val) c.1840C>G (p.Leu614Val) c.1816C>G (p.Leu606Val) | |
13 | g.108209465G>T | CA388615951 | LIG4 | c.1603C>A (p.Leu535Ile) c.1804C>A (p.Leu602Ile) c.1840C>A (p.Leu614Ile) c.1816C>A (p.Leu606Ile) | |
13 | g.108209466T>A | CA388615954 | LIG4 | c.1602A>T (p.Gln534His) c.1803A>T (p.Gln601His) c.1839A>T (p.Gln613His) c.1815A>T (p.Gln605His) | |
13 | g.108209466T>C | CA484975926 | LIG4 | c.1602A>G (p.Gln534=) c.1803A>G (p.Gln601=) c.1839A>G (p.Gln613=) c.1815A>G (p.Gln605=) | |
13 | g.108209466T>G | CA388615956 | LIG4 | c.1602A>C (p.Gln534His) c.1803A>C (p.Gln601His) c.1839A>C (p.Gln613His) c.1815A>C (p.Gln605His) | |
13 | g.108209467T>A | CA388615959 | LIG4 | c.1601A>T (p.Gln534Leu) c.1802A>T (p.Gln601Leu) c.1838A>T (p.Gln613Leu) c.1814A>T (p.Gln605Leu) | |
13 | g.108209467T>C | CA388615963 | LIG4 | c.1601A>G (p.Gln534Arg) c.1802A>G (p.Gln601Arg) c.1838A>G (p.Gln613Arg) c.1814A>G (p.Gln605Arg) | |
13 | g.108209467T>G | CA388615966 | LIG4 | c.1601A>C (p.Gln534Pro) c.1802A>C (p.Gln601Pro) c.1838A>C (p.Gln613Pro) c.1814A>C (p.Gln605Pro) | |
13 | g.108209468G>A | CA388615970 | LIG4 | c.1600C>T (p.Gln534Ter) c.1801C>T (p.Gln601Ter) c.1837C>T (p.Gln613Ter) c.1813C>T (p.Gln605Ter) | |
13 | g.108209468G>C | CA388615972 | LIG4 | c.1600C>G (p.Gln534Glu) c.1801C>G (p.Gln601Glu) c.1837C>G (p.Gln613Glu) c.1813C>G (p.Gln605Glu) | |
13 | g.108209468G>T | CA388615973 | LIG4 | c.1600C>A (p.Gln534Lys) c.1801C>A (p.Gln601Lys) c.1837C>A (p.Gln613Lys) c.1813C>A (p.Gln605Lys) | |
13 | g.108209469T>A | CA388615977 | LIG4 | c.1599A>T (p.Glu533Asp) c.1800A>T (p.Glu600Asp) c.1836A>T (p.Glu612Asp) c.1812A>T (p.Glu604Asp) | |
13 | g.108209469T>C | CA484975934 | LIG4 | c.1599A>G (p.Glu533=) c.1800A>G (p.Glu600=) c.1836A>G (p.Glu612=) c.1812A>G (p.Glu604=) | ClinVar dbSNP gnomAD v4 |
13 | g.108209469T>G | CA388615976 | LIG4 | c.1599A>C (p.Glu533Asp) c.1800A>C (p.Glu600Asp) c.1836A>C (p.Glu612Asp) c.1812A>C (p.Glu604Asp) | |
13 | g.108209469T= | CA2117794206 | LIG4 | c.1599A= (p.Glu533=) c.1800A= (p.Glu600=) c.1836A= (p.Glu612=) c.1812A= (p.Glu604=) | |
13 | g.108209470T>A | CA388615978 | LIG4 | c.1598A>T (p.Glu533Val) c.1799A>T (p.Glu600Val) c.1835A>T (p.Glu612Val) c.1811A>T (p.Glu604Val) | |
13 | g.108209470T>C | CA388615979 | LIG4 | c.1598A>G (p.Glu533Gly) c.1799A>G (p.Glu600Gly) c.1835A>G (p.Glu612Gly) c.1811A>G (p.Glu604Gly) | |
13 | g.108209470T>G | CA388615980 | LIG4 | c.1598A>C (p.Glu533Ala) c.1799A>C (p.Glu600Ala) c.1835A>C (p.Glu612Ala) c.1811A>C (p.Glu604Ala) | |
13 | g.108209471C>A | CA388615982 | LIG4 | c.1597G>T (p.Glu533Ter) c.1798G>T (p.Glu600Ter) c.1834G>T (p.Glu612Ter) c.1810G>T (p.Glu604Ter) | ClinVar |
13 | g.108209471C= | CA2117794207 | LIG4 | c.1597G= (p.Glu533=) c.1798G= (p.Glu600=) c.1834G= (p.Glu612=) c.1810G= (p.Glu604=) | |
13 | g.108209471C>G | CA388615984 | LIG4 | c.1597G>C (p.Glu533Gln) c.1798G>C (p.Glu600Gln) c.1834G>C (p.Glu612Gln) c.1810G>C (p.Glu604Gln) | |
13 | g.108209471C>T | CA209412 | LIG4 | c.1597G>A (p.Glu533Lys) c.1798G>A (p.Glu600Lys) c.1834G>A (p.Glu612Lys) c.1810G>A (p.Glu604Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209472T>A | CA484975941 | LIG4 | c.1596A>T (p.Leu532=) c.1797A>T (p.Leu599=) c.1833A>T (p.Leu611=) c.1809A>T (p.Leu603=) | |
13 | g.108209472T>C | CA7043612 | LIG4 | c.1596A>G (p.Leu532=) c.1797A>G (p.Leu599=) c.1833A>G (p.Leu611=) c.1809A>G (p.Leu603=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209472T>G | CA484975946 | LIG4 | c.1596A>C (p.Leu532=) c.1797A>C (p.Leu599=) c.1833A>C (p.Leu611=) c.1809A>C (p.Leu603=) | |
13 | g.108209472T= | CA2117794208 | LIG4 | c.1596A= (p.Leu532=) c.1797A= (p.Leu599=) c.1833A= (p.Leu611=) c.1809A= (p.Leu603=) | |
13 | g.108209473A= | CA2117794209 | LIG4 | c.1595T= (p.Leu532=) c.1796T= (p.Leu599=) c.1832T= (p.Leu611=) c.1808T= (p.Leu603=) | |
13 | g.108209473A>C | CA388615991 | LIG4 | c.1595T>G (p.Leu532Arg) c.1796T>G (p.Leu599Arg) c.1832T>G (p.Leu611Arg) c.1808T>G (p.Leu603Arg) | |
13 | g.108209473A>G | CA388615995 | LIG4 | c.1595T>C (p.Leu532Pro) c.1796T>C (p.Leu599Pro) c.1832T>C (p.Leu611Pro) c.1808T>C (p.Leu603Pro) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209473A>T | CA388615994 | LIG4 | c.1595T>A (p.Leu532Gln) c.1796T>A (p.Leu599Gln) c.1832T>A (p.Leu611Gln) c.1808T>A (p.Leu603Gln) | |
13 | g.108209474G>A | CA484975951 | LIG4 | c.1594C>T (p.Leu532=) c.1795C>T (p.Leu599=) c.1831C>T (p.Leu611=) c.1807C>T (p.Leu603=) | gnomAD v4 |
13 | g.108209474G>C | CA388615996 | LIG4 | c.1594C>G (p.Leu532Val) c.1795C>G (p.Leu599Val) c.1831C>G (p.Leu611Val) c.1807C>G (p.Leu603Val) | |
13 | g.108209474G>T | CA388615997 | LIG4 | c.1594C>A (p.Leu532Ile) c.1795C>A (p.Leu599Ile) c.1831C>A (p.Leu611Ile) c.1807C>A (p.Leu603Ile) | |
13 | g.108209475G>A | CA484975101 | LIG4 | c.1593C>T (p.Asp531=) c.1794C>T (p.Asp598=) c.1830C>T (p.Asp610=) c.1806C>T (p.Asp602=) | dbSNP |
13 | g.108209475G>C | CA388615998 | LIG4 | c.1593C>G (p.Asp531Glu) c.1794C>G (p.Asp598Glu) c.1830C>G (p.Asp610Glu) c.1806C>G (p.Asp602Glu) | |
13 | g.108209475G= | CA2117794210 | LIG4 | c.1593C= (p.Asp531=) c.1794C= (p.Asp598=) c.1830C= (p.Asp610=) c.1806C= (p.Asp602=) | |
13 | g.108209475G>T | CA388615999 | LIG4 | c.1593C>A (p.Asp531Glu) c.1794C>A (p.Asp598Glu) c.1830C>A (p.Asp610Glu) c.1806C>A (p.Asp602Glu) | |
13 | g.108209476T>A | CA388616004 | LIG4 | c.1592A>T (p.Asp531Val) c.1793A>T (p.Asp598Val) c.1829A>T (p.Asp610Val) c.1805A>T (p.Asp602Val) | |
13 | g.108209476T>C | CA388616001 | LIG4 | c.1592A>G (p.Asp531Gly) c.1793A>G (p.Asp598Gly) c.1829A>G (p.Asp610Gly) c.1805A>G (p.Asp602Gly) | dbSNP |
13 | g.108209476T>G | CA388616002 | LIG4 | c.1592A>C (p.Asp531Ala) c.1793A>C (p.Asp598Ala) c.1829A>C (p.Asp610Ala) c.1805A>C (p.Asp602Ala) | |
13 | g.108209476T= | CA2117794211 | LIG4 | c.1592A= (p.Asp531=) c.1793A= (p.Asp598=) c.1829A= (p.Asp610=) c.1805A= (p.Asp602=) | |
13 | g.108209477C>A | CA388616006 | LIG4 | c.1591G>T (p.Asp531Tyr) c.1792G>T (p.Asp598Tyr) c.1828G>T (p.Asp610Tyr) c.1804G>T (p.Asp602Tyr) | gnomAD v4 |
13 | g.108209477C= | CA2117794212 | LIG4 | c.1591G= (p.Asp531=) c.1792G= (p.Asp598=) c.1828G= (p.Asp610=) c.1804G= (p.Asp602=) | |
13 | g.108209477C>G | CA388616009 | LIG4 | c.1591G>C (p.Asp531His) c.1792G>C (p.Asp598His) c.1828G>C (p.Asp610His) c.1804G>C (p.Asp602His) | |
13 | g.108209477C>T | CA7043613 | LIG4 | c.1591G>A (p.Asp531Asn) c.1792G>A (p.Asp598Asn) c.1828G>A (p.Asp610Asn) c.1804G>A (p.Asp602Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209478G>A | CA7043614 | LIG4 | c.1590C>T (p.Asp530=) c.1791C>T (p.Asp597=) c.1827C>T (p.Asp609=) c.1803C>T (p.Asp601=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108209478G>C | CA388616014 | LIG4 | c.1590C>G (p.Asp530Glu) c.1791C>G (p.Asp597Glu) c.1827C>G (p.Asp609Glu) c.1803C>G (p.Asp601Glu) | |
13 | g.108209478G= | CA2117794213 | LIG4 | c.1590C= (p.Asp530=) c.1791C= (p.Asp597=) c.1827C= (p.Asp609=) c.1803C= (p.Asp601=) | |
13 | g.108209478G>T | CA388616016 | LIG4 | c.1590C>A (p.Asp530Glu) c.1791C>A (p.Asp597Glu) c.1827C>A (p.Asp609Glu) c.1803C>A (p.Asp601Glu) | dbSNP gnomAD v4 |