Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.108209245T>A | CA388614441 | LIG4 | c.1823A>T (p.Lys608Met) c.2024A>T (p.Lys675Met) c.2060A>T (p.Lys687Met) c.2036A>T (p.Lys679Met) | |
13 | g.108209245T>C | CA388614446 | LIG4 | c.1823A>G (p.Lys608Arg) c.2024A>G (p.Lys675Arg) c.2060A>G (p.Lys687Arg) c.2036A>G (p.Lys679Arg) | |
13 | g.108209245T>G | CA388614447 | LIG4 | c.1823A>C (p.Lys608Thr) c.2024A>C (p.Lys675Thr) c.2060A>C (p.Lys687Thr) c.2036A>C (p.Lys679Thr) | |
13 | g.108209246T>A | CA388614450 | LIG4 | c.1822A>T (p.Lys608Ter) c.2023A>T (p.Lys675Ter) c.2059A>T (p.Lys687Ter) c.2035A>T (p.Lys679Ter) | |
13 | g.108209246T>C | CA388614457 | LIG4 | c.1822A>G (p.Lys608Glu) c.2023A>G (p.Lys675Glu) c.2059A>G (p.Lys687Glu) c.2035A>G (p.Lys679Glu) | |
13 | g.108209246T>G | CA388614453 | LIG4 | c.1822A>C (p.Lys608Gln) c.2023A>C (p.Lys675Gln) c.2059A>C (p.Lys687Gln) c.2035A>C (p.Lys679Gln) | |
13 | g.108209247T>A | CA484975146 | LIG4 | c.1821A>T (p.Pro607=) c.2022A>T (p.Pro674=) c.2058A>T (p.Pro686=) c.2034A>T (p.Pro678=) | |
13 | g.108209247T>C | CA484975148 | LIG4 | c.1821A>G (p.Pro607=) c.2022A>G (p.Pro674=) c.2058A>G (p.Pro686=) c.2034A>G (p.Pro678=) | |
13 | g.108209247T>G | CA484975147 | LIG4 | c.1821A>C (p.Pro607=) c.2022A>C (p.Pro674=) c.2058A>C (p.Pro686=) c.2034A>C (p.Pro678=) | |
13 | g.108209247T= | CA2117794105 | LIG4 | c.1821A= (p.Pro607=) c.2022A= (p.Pro674=) c.2058A= (p.Pro686=) c.2034A= (p.Pro678=) | |
13 | g.108209248G>A | CA388614461 | LIG4 | c.1820C>T (p.Pro607Leu) c.2021C>T (p.Pro674Leu) c.2057C>T (p.Pro686Leu) c.2033C>T (p.Pro678Leu) | |
13 | g.108209248G>C | CA388614464 | LIG4 | c.1820C>G (p.Pro607Arg) c.2021C>G (p.Pro674Arg) c.2057C>G (p.Pro686Arg) c.2033C>G (p.Pro678Arg) | |
13 | g.108209248G>T | CA388614467 | LIG4 | c.1820C>A (p.Pro607Gln) c.2021C>A (p.Pro674Gln) c.2057C>A (p.Pro686Gln) c.2033C>A (p.Pro678Gln) | |
13 | g.108209249dup | CA2117794106 | LIG4 | c.1820dup (p.Pro609AlafsTer2) c.2021dup (p.Pro676AlafsTer2) c.2057dup (p.Pro688AlafsTer2) c.2033dup (p.Pro680AlafsTer2) | dbSNP |
13 | g.108209249G>A | CA388614472 | LIG4 | c.1819C>T (p.Pro607Ser) c.2020C>T (p.Pro674Ser) c.2056C>T (p.Pro686Ser) c.2032C>T (p.Pro678Ser) | |
13 | g.108209249G>C | CA388614475 | LIG4 | c.1819C>G (p.Pro607Ala) c.2020C>G (p.Pro674Ala) c.2056C>G (p.Pro686Ala) c.2032C>G (p.Pro678Ala) | |
13 | g.108209249G>T | CA388614477 | LIG4 | c.1819C>A (p.Pro607Thr) c.2020C>A (p.Pro674Thr) c.2056C>A (p.Pro686Thr) c.2032C>A (p.Pro678Thr) | |
13 | g.108209250C>A | CA388614481 | LIG4 | c.1818G>T (p.Gln606His) c.2019G>T (p.Gln673His) c.2055G>T (p.Gln685His) c.2031G>T (p.Gln677His) | |
13 | g.108209250C>G | CA388614483 | LIG4 | c.1818G>C (p.Gln606His) c.2019G>C (p.Gln673His) c.2055G>C (p.Gln685His) c.2031G>C (p.Gln677His) | |
13 | g.108209250C>T | CA484975152 | LIG4 | c.1818G>A (p.Gln606=) c.2019G>A (p.Gln673=) c.2055G>A (p.Gln685=) c.2031G>A (p.Gln677=) | |
13 | g.108209251T>A | CA388614487 | LIG4 | c.1817A>T (p.Gln606Leu) c.2018A>T (p.Gln673Leu) c.2054A>T (p.Gln685Leu) c.2030A>T (p.Gln677Leu) | |
13 | g.108209251T>C | CA388614490 | LIG4 | c.1817A>G (p.Gln606Arg) c.2018A>G (p.Gln673Arg) c.2054A>G (p.Gln685Arg) c.2030A>G (p.Gln677Arg) | |
13 | g.108209251T>G | CA388614498 | LIG4 | c.1817A>C (p.Gln606Pro) c.2018A>C (p.Gln673Pro) c.2054A>C (p.Gln685Pro) c.2030A>C (p.Gln677Pro) | |
13 | g.108209252G>A | CA388614507 | LIG4 | c.1816C>T (p.Gln606Ter) c.2017C>T (p.Gln673Ter) c.2053C>T (p.Gln685Ter) c.2029C>T (p.Gln677Ter) | |
13 | g.108209252G>C | CA388614504 | LIG4 | c.1816C>G (p.Gln606Glu) c.2017C>G (p.Gln673Glu) c.2053C>G (p.Gln685Glu) c.2029C>G (p.Gln677Glu) | |
13 | g.108209252G>T | CA388614502 | LIG4 | c.1816C>A (p.Gln606Lys) c.2017C>A (p.Gln673Lys) c.2053C>A (p.Gln685Lys) c.2029C>A (p.Gln677Lys) | |
13 | g.108209253G>A | CA484975159 | LIG4 | c.1815C>T (p.Ser605=) c.2016C>T (p.Ser672=) c.2052C>T (p.Ser684=) c.2028C>T (p.Ser676=) | |
13 | g.108209253G>C | CA206421 | LIG4 | c.1815C>G (p.Ser605Arg) c.2016C>G (p.Ser672Arg) c.2052C>G (p.Ser684Arg) c.2028C>G (p.Ser676Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209253G= | CA2117794107 | LIG4 | c.1815C= (p.Ser605=) c.2016C= (p.Ser672=) c.2052C= (p.Ser684=) c.2028C= (p.Ser676=) | |
13 | g.108209253G>T | CA388614528 | LIG4 | c.1815C>A (p.Ser605Arg) c.2016C>A (p.Ser672Arg) c.2052C>A (p.Ser684Arg) c.2028C>A (p.Ser676Arg) | |
13 | g.108209254C>A | CA388614532 | LIG4 | c.1814G>T (p.Ser605Ile) c.2015G>T (p.Ser672Ile) c.2051G>T (p.Ser684Ile) c.2027G>T (p.Ser676Ile) | |
13 | g.108209254C>G | CA388614535 | LIG4 | c.1814G>C (p.Ser605Thr) c.2015G>C (p.Ser672Thr) c.2051G>C (p.Ser684Thr) c.2027G>C (p.Ser676Thr) | |
13 | g.108209254C>T | CA388614538 | LIG4 | c.1814G>A (p.Ser605Asn) c.2015G>A (p.Ser672Asn) c.2051G>A (p.Ser684Asn) c.2027G>A (p.Ser676Asn) | |
13 | g.108209255T>A | CA388614543 | LIG4 | c.1813A>T (p.Ser605Cys) c.2014A>T (p.Ser672Cys) c.2050A>T (p.Ser684Cys) c.2026A>T (p.Ser676Cys) | |
13 | g.108209255T>C | CA388614546 | LIG4 | c.1813A>G (p.Ser605Gly) c.2014A>G (p.Ser672Gly) c.2050A>G (p.Ser684Gly) c.2026A>G (p.Ser676Gly) | |
13 | g.108209255T>G | CA388614552 | LIG4 | c.1813A>C (p.Ser605Arg) c.2014A>C (p.Ser672Arg) c.2050A>C (p.Ser684Arg) c.2026A>C (p.Ser676Arg) | |
13 | g.108209256A= | CA2117794108 | LIG4 | c.1812T= (p.Asp604=) c.2013T= (p.Asp671=) c.2049T= (p.Asp683=) c.2025T= (p.Asp675=) | |
13 | g.108209256A>C | CA388614556 | LIG4 | c.1812T>G (p.Asp604Glu) c.2013T>G (p.Asp671Glu) c.2049T>G (p.Asp683Glu) c.2025T>G (p.Asp675Glu) | |
13 | g.108209256A>G | CA256180214 | LIG4 | c.1812T>C (p.Asp604=) c.2013T>C (p.Asp671=) c.2049T>C (p.Asp683=) c.2025T>C (p.Asp675=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209256A>T | CA388614559 | LIG4 | c.1812T>A (p.Asp604Glu) c.2013T>A (p.Asp671Glu) c.2049T>A (p.Asp683Glu) c.2025T>A (p.Asp675Glu) | |
13 | g.108209257T>A | CA388614562 | LIG4 | c.1811A>T (p.Asp604Val) c.2012A>T (p.Asp671Val) c.2048A>T (p.Asp683Val) c.2024A>T (p.Asp675Val) | |
13 | g.108209257T>C | CA388614566 | LIG4 | c.1811A>G (p.Asp604Gly) c.2012A>G (p.Asp671Gly) c.2048A>G (p.Asp683Gly) c.2024A>G (p.Asp675Gly) | |
13 | g.108209257T>G | CA388614570 | LIG4 | c.1811A>C (p.Asp604Ala) c.2012A>C (p.Asp671Ala) c.2048A>C (p.Asp683Ala) c.2024A>C (p.Asp675Ala) | |
13 | g.108209258C>A | CA388614578 | LIG4 | c.1810G>T (p.Asp604Tyr) c.2011G>T (p.Asp671Tyr) c.2047G>T (p.Asp683Tyr) c.2023G>T (p.Asp675Tyr) | |
13 | g.108209258C= | CA2117794109 | LIG4 | c.1810G= (p.Asp604=) c.2011G= (p.Asp671=) c.2047G= (p.Asp683=) c.2023G= (p.Asp675=) | |
13 | g.108209258C>G | CA388614574 | LIG4 | c.1810G>C (p.Asp604His) c.2011G>C (p.Asp671His) c.2047G>C (p.Asp683His) c.2023G>C (p.Asp675His) | |
13 | g.108209258C>T | CA7043568 | LIG4 | c.1810G>A (p.Asp604Asn) c.2011G>A (p.Asp671Asn) c.2047G>A (p.Asp683Asn) c.2023G>A (p.Asp675Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209259T>A | CA484975165 | LIG4 | c.1809A>T (p.Thr603=) c.2010A>T (p.Thr670=) c.2046A>T (p.Thr682=) c.2022A>T (p.Thr674=) | dbSNP |
13 | g.108209259T>C | CA484975167 | LIG4 | c.1809A>G (p.Thr603=) c.2010A>G (p.Thr670=) c.2046A>G (p.Thr682=) c.2022A>G (p.Thr674=) | |
13 | g.108209259T>G | CA484975171 | LIG4 | c.1809A>C (p.Thr603=) c.2010A>C (p.Thr670=) c.2046A>C (p.Thr682=) c.2022A>C (p.Thr674=) | |
13 | g.108209259T= | CA2117794110 | LIG4 | c.1809A= (p.Thr603=) c.2010A= (p.Thr670=) c.2046A= (p.Thr682=) c.2022A= (p.Thr674=) | |
13 | g.108209260G>A | CA388614581 | LIG4 | c.1808C>T (p.Thr603Ile) c.2009C>T (p.Thr670Ile) c.2045C>T (p.Thr682Ile) c.2021C>T (p.Thr674Ile) | |
13 | g.108209260G>C | CA388614583 | LIG4 | c.1808C>G (p.Thr603Arg) c.2009C>G (p.Thr670Arg) c.2045C>G (p.Thr682Arg) c.2021C>G (p.Thr674Arg) | |
13 | g.108209260G>T | CA388614587 | LIG4 | c.1808C>A (p.Thr603Lys) c.2009C>A (p.Thr670Lys) c.2045C>A (p.Thr682Lys) c.2021C>A (p.Thr674Lys) | |
13 | g.108209261T>A | CA388614589 | LIG4 | c.1807A>T (p.Thr603Ser) c.2008A>T (p.Thr670Ser) c.2044A>T (p.Thr682Ser) c.2020A>T (p.Thr674Ser) | |
13 | g.108209261T>C | CA388614590 | LIG4 | c.1807A>G (p.Thr603Ala) c.2008A>G (p.Thr670Ala) c.2044A>G (p.Thr682Ala) c.2020A>G (p.Thr674Ala) | gnomAD v4 |
13 | g.108209261T>G | CA388614592 | LIG4 | c.1807A>C (p.Thr603Pro) c.2008A>C (p.Thr670Pro) c.2044A>C (p.Thr682Pro) c.2020A>C (p.Thr674Pro) | |
13 | g.108209262T>A | CA484975177 | LIG4 | c.1806A>T (p.Gly602=) c.2007A>T (p.Gly669=) c.2043A>T (p.Gly681=) c.2019A>T (p.Gly673=) | |
13 | g.108209262T>C | CA484975175 | LIG4 | c.1806A>G (p.Gly602=) c.2007A>G (p.Gly669=) c.2043A>G (p.Gly681=) c.2019A>G (p.Gly673=) | |
13 | g.108209262T>G | CA484975176 | LIG4 | c.1806A>C (p.Gly602=) c.2007A>C (p.Gly669=) c.2043A>C (p.Gly681=) c.2019A>C (p.Gly673=) | |
13 | g.108209263C>A | CA388614597 | LIG4 | c.1805G>T (p.Gly602Val) c.2006G>T (p.Gly669Val) c.2042G>T (p.Gly681Val) c.2018G>T (p.Gly673Val) | |
13 | g.108209263C>G | CA388614598 | LIG4 | c.1805G>C (p.Gly602Ala) c.2006G>C (p.Gly669Ala) c.2042G>C (p.Gly681Ala) c.2018G>C (p.Gly673Ala) | |
13 | g.108209263C>T | CA388614602 | LIG4 | c.1805G>A (p.Gly602Glu) c.2006G>A (p.Gly669Glu) c.2042G>A (p.Gly681Glu) c.2018G>A (p.Gly673Glu) | gnomAD v4 |
13 | g.108209264del | CA2623644102 | LIG4 | c.1805del (p.Gly602GlufsTer21) c.2006del (p.Gly669GlufsTer21) c.2042del (p.Gly681GlufsTer21) c.2018del (p.Gly673GlufsTer21) | gnomAD v4 |
13 | g.108209264C>A | CA388614612 | LIG4 | c.1804G>T (p.Gly602Ter) c.2005G>T (p.Gly669Ter) c.2041G>T (p.Gly681Ter) c.2017G>T (p.Gly673Ter) | |
13 | g.108209264C>G | CA388614616 | LIG4 | c.1804G>C (p.Gly602Arg) c.2005G>C (p.Gly669Arg) c.2041G>C (p.Gly681Arg) c.2017G>C (p.Gly673Arg) | |
13 | g.108209264C>T | CA388614618 | LIG4 | c.1804G>A (p.Gly602Arg) c.2005G>A (p.Gly669Arg) c.2041G>A (p.Gly681Arg) c.2017G>A (p.Gly673Arg) | gnomAD v4 |
13 | g.108209265A>C | CA388614620 | LIG4 | c.1803T>G (p.Ser601Arg) c.2004T>G (p.Ser668Arg) c.2040T>G (p.Ser680Arg) c.2016T>G (p.Ser672Arg) | |
13 | g.108209265A>G | CA484975183 | LIG4 | c.1803T>C (p.Ser601=) c.2004T>C (p.Ser668=) c.2040T>C (p.Ser680=) c.2016T>C (p.Ser672=) | |
13 | g.108209265A>T | CA388614624 | LIG4 | c.1803T>A (p.Ser601Arg) c.2004T>A (p.Ser668Arg) c.2040T>A (p.Ser680Arg) c.2016T>A (p.Ser672Arg) | |
13 | g.108209266C>A | CA388614638 | LIG4 | c.1802G>T (p.Ser601Ile) c.2003G>T (p.Ser668Ile) c.2039G>T (p.Ser680Ile) c.2015G>T (p.Ser672Ile) | |
13 | g.108209266C>G | CA388614635 | LIG4 | c.1802G>C (p.Ser601Thr) c.2003G>C (p.Ser668Thr) c.2039G>C (p.Ser680Thr) c.2015G>C (p.Ser672Thr) | |
13 | g.108209266C>T | CA388614633 | LIG4 | c.1802G>A (p.Ser601Asn) c.2003G>A (p.Ser668Asn) c.2039G>A (p.Ser680Asn) c.2015G>A (p.Ser672Asn) | gnomAD v4 |
13 | g.108209267T>A | CA388614641 | LIG4 | c.1801A>T (p.Ser601Cys) c.2002A>T (p.Ser668Cys) c.2038A>T (p.Ser680Cys) c.2014A>T (p.Ser672Cys) | |
13 | g.108209267T>C | CA388614645 | LIG4 | c.1801A>G (p.Ser601Gly) c.2002A>G (p.Ser668Gly) c.2038A>G (p.Ser680Gly) c.2014A>G (p.Ser672Gly) | |
13 | g.108209267T>G | CA388614646 | LIG4 | c.1801A>C (p.Ser601Arg) c.2002A>C (p.Ser668Arg) c.2038A>C (p.Ser680Arg) c.2014A>C (p.Ser672Arg) | |
13 | g.108209268C>A | CA388614650 | LIG4 | c.1800G>T (p.Met600Ile) c.2001G>T (p.Met667Ile) c.2037G>T (p.Met679Ile) c.2013G>T (p.Met671Ile) | |
13 | g.108209268C= | CA2117794111 | LIG4 | c.1800G= (p.Met600=) c.2001G= (p.Met667=) c.2037G= (p.Met679=) c.2013G= (p.Met671=) | |
13 | g.108209268C>G | CA388614662 | LIG4 | c.1800G>C (p.Met600Ile) c.2001G>C (p.Met667Ile) c.2037G>C (p.Met679Ile) c.2013G>C (p.Met671Ile) | gnomAD v4 COSMIC |
13 | g.108209268C>T | CA388614665 | LIG4 | c.1800G>A (p.Met600Ile) c.2001G>A (p.Met667Ile) c.2037G>A (p.Met679Ile) c.2013G>A (p.Met671Ile) | dbSNP gnomAD v4 |
13 | g.108209269A= | CA2117794112 | LIG4 | c.1799T= (p.Met600=) c.2000T= (p.Met667=) c.2036T= (p.Met679=) c.2012T= (p.Met671=) | |
13 | g.108209269A>C | CA388614670 | LIG4 | c.1799T>G (p.Met600Arg) c.2000T>G (p.Met667Arg) c.2036T>G (p.Met679Arg) c.2012T>G (p.Met671Arg) | |
13 | g.108209269A>G | CA388614671 | LIG4 | c.1799T>C (p.Met600Thr) c.2000T>C (p.Met667Thr) c.2036T>C (p.Met679Thr) c.2012T>C (p.Met671Thr) | dbSNP |
13 | g.108209269A>T | CA388614675 | LIG4 | c.1799T>A (p.Met600Lys) c.2000T>A (p.Met667Lys) c.2036T>A (p.Met679Lys) c.2012T>A (p.Met671Lys) | |
13 | g.108209270T>A | CA388614682 | LIG4 | c.1798A>T (p.Met600Leu) c.1999A>T (p.Met667Leu) c.2035A>T (p.Met679Leu) c.2011A>T (p.Met671Leu) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209270T>C | CA388614684 | LIG4 | c.1798A>G (p.Met600Val) c.1999A>G (p.Met667Val) c.2035A>G (p.Met679Val) c.2011A>G (p.Met671Val) | gnomAD v4 |
13 | g.108209270T>G | CA388614686 | LIG4 | c.1798A>C (p.Met600Leu) c.1999A>C (p.Met667Leu) c.2035A>C (p.Met679Leu) c.2011A>C (p.Met671Leu) | |
13 | g.108209270T= | CA2117794113 | LIG4 | c.1798A= (p.Met600=) c.1999A= (p.Met667=) c.2035A= (p.Met679=) c.2011A= (p.Met671=) | |
13 | g.108209271A= | CA2117794114 | LIG4 | c.1797T= (p.Val599=) c.1998T= (p.Val666=) c.2034T= (p.Val678=) c.2010T= (p.Val670=) | |
13 | g.108209271A>C | CA484975189 | LIG4 | c.1797T>G (p.Val599=) c.1998T>G (p.Val666=) c.2034T>G (p.Val678=) c.2010T>G (p.Val670=) | |
13 | g.108209271A>G | CA7043569 | LIG4 | c.1797T>C (p.Val599=) c.1998T>C (p.Val666=) c.2034T>C (p.Val678=) c.2010T>C (p.Val670=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209271A>T | CA484975191 | LIG4 | c.1797T>A (p.Val599=) c.1998T>A (p.Val666=) c.2034T>A (p.Val678=) c.2010T>A (p.Val670=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209272A>C | CA388614693 | LIG4 | c.1796T>G (p.Val599Gly) c.1997T>G (p.Val666Gly) c.2033T>G (p.Val678Gly) c.2009T>G (p.Val670Gly) | |
13 | g.108209272A>G | CA388614690 | LIG4 | c.1796T>C (p.Val599Ala) c.1997T>C (p.Val666Ala) c.2033T>C (p.Val678Ala) c.2009T>C (p.Val670Ala) | |
13 | g.108209272A>T | CA388614688 | LIG4 | c.1796T>A (p.Val599Asp) c.1997T>A (p.Val666Asp) c.2033T>A (p.Val678Asp) c.2009T>A (p.Val670Asp) | |
13 | g.108209273C>A | CA388614701 | LIG4 | c.1795G>T (p.Val599Phe) c.1996G>T (p.Val666Phe) c.2032G>T (p.Val678Phe) c.2008G>T (p.Val670Phe) | |
13 | g.108209273C>G | CA388614703 | LIG4 | c.1795G>C (p.Val599Leu) c.1996G>C (p.Val666Leu) c.2032G>C (p.Val678Leu) c.2008G>C (p.Val670Leu) | |
13 | g.108209273C>T | CA388614706 | LIG4 | c.1795G>A (p.Val599Ile) c.1996G>A (p.Val666Ile) c.2032G>A (p.Val678Ile) c.2008G>A (p.Val670Ile) | |
13 | g.108209273_108209274delinsCA | CA2117794115 | LIG4 | c.1794_1795delinsTG (p.Cys598=) c.1995_1996delinsTG (p.Cys665=) c.2031_2032delinsTG (p.Cys677=) c.2007_2008delinsTG (p.Cys669=) | |
13 | g.108209274del | CA694834712 | LIG4 | c.1794del (p.Cys598TrpfsTer3) c.1995del (p.Cys665TrpfsTer3) c.2031del (p.Cys677TrpfsTer3) c.2007del (p.Cys669TrpfsTer3) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209274A>C | CA388614707 | LIG4 | c.1794T>G (p.Cys598Trp) c.1995T>G (p.Cys665Trp) c.2031T>G (p.Cys677Trp) c.2007T>G (p.Cys669Trp) | |
13 | g.108209274A>G | CA484975196 | LIG4 | c.1794T>C (p.Cys598=) c.1995T>C (p.Cys665=) c.2031T>C (p.Cys677=) c.2007T>C (p.Cys669=) | |
13 | g.108209274A>T | CA388614713 | LIG4 | c.1794T>A (p.Cys598Ter) c.1995T>A (p.Cys665Ter) c.2031T>A (p.Cys677Ter) c.2007T>A (p.Cys669Ter) | |
13 | g.108209275C>A | CA388614716 | LIG4 | c.1793G>T (p.Cys598Phe) c.1994G>T (p.Cys665Phe) c.2030G>T (p.Cys677Phe) c.2006G>T (p.Cys669Phe) | |
13 | g.108209275C>G | CA388614718 | LIG4 | c.1793G>C (p.Cys598Ser) c.1994G>C (p.Cys665Ser) c.2030G>C (p.Cys677Ser) c.2006G>C (p.Cys669Ser) | |
13 | g.108209275C>T | CA388614720 | LIG4 | c.1793G>A (p.Cys598Tyr) c.1994G>A (p.Cys665Tyr) c.2030G>A (p.Cys677Tyr) c.2006G>A (p.Cys669Tyr) | |
13 | g.108209276A>C | CA388614723 | LIG4 | c.1792T>G (p.Cys598Gly) c.1993T>G (p.Cys665Gly) c.2029T>G (p.Cys677Gly) c.2005T>G (p.Cys669Gly) | |
13 | g.108209276A>G | CA388614726 | LIG4 | c.1792T>C (p.Cys598Arg) c.1993T>C (p.Cys665Arg) c.2029T>C (p.Cys677Arg) c.2005T>C (p.Cys669Arg) | |
13 | g.108209276A>T | CA388614728 | LIG4 | c.1792T>A (p.Cys598Ser) c.1993T>A (p.Cys665Ser) c.2029T>A (p.Cys677Ser) c.2005T>A (p.Cys669Ser) | |
13 | g.108209277A= | CA2117794116 | LIG4 | c.1791T= (p.Phe597=) c.1992T= (p.Phe664=) c.2028T= (p.Phe676=) c.2004T= (p.Phe668=) | |
13 | g.108209277A>C | CA388614731 | LIG4 | c.1791T>G (p.Phe597Leu) c.1992T>G (p.Phe664Leu) c.2028T>G (p.Phe676Leu) c.2004T>G (p.Phe668Leu) | gnomAD v4 |
13 | g.108209277A>G | CA484975209 | LIG4 | c.1791T>C (p.Phe597=) c.1992T>C (p.Phe664=) c.2028T>C (p.Phe676=) c.2004T>C (p.Phe668=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209277A>T | CA388614732 | LIG4 | c.1791T>A (p.Phe597Leu) c.1992T>A (p.Phe664Leu) c.2028T>A (p.Phe676Leu) c.2004T>A (p.Phe668Leu) | |
13 | g.108209278A>C | CA388614739 | LIG4 | c.1790T>G (p.Phe597Cys) c.1991T>G (p.Phe664Cys) c.2027T>G (p.Phe676Cys) c.2003T>G (p.Phe668Cys) | |
13 | g.108209278A>G | CA388614745 | LIG4 | c.1790T>C (p.Phe597Ser) c.1991T>C (p.Phe664Ser) c.2027T>C (p.Phe676Ser) c.2003T>C (p.Phe668Ser) | |
13 | g.108209278A>T | CA388614735 | LIG4 | c.1790T>A (p.Phe597Tyr) c.1991T>A (p.Phe664Tyr) c.2027T>A (p.Phe676Tyr) c.2003T>A (p.Phe668Tyr) | |
13 | g.108209279A>C | CA388614746 | LIG4 | c.1789T>G (p.Phe597Val) c.1990T>G (p.Phe664Val) c.2026T>G (p.Phe676Val) c.2002T>G (p.Phe668Val) | gnomAD v4 |
13 | g.108209279A>G | CA388614750 | LIG4 | c.1789T>C (p.Phe597Leu) c.1990T>C (p.Phe664Leu) c.2026T>C (p.Phe676Leu) c.2002T>C (p.Phe668Leu) | |
13 | g.108209279A>T | CA388614748 | LIG4 | c.1789T>A (p.Phe597Ile) c.1990T>A (p.Phe664Ile) c.2026T>A (p.Phe676Ile) c.2002T>A (p.Phe668Ile) | |
13 | g.108209279_108209281delinsACT | CA2117794117 | LIG4 | c.1787_1789delinsAGT (p.Glu596=) c.1988_1990delinsAGT (p.Glu663=) c.2024_2026delinsAGT (p.Glu675=) c.2000_2002delinsAGT (p.Glu667=) | |
13 | g.108209280C>A | CA388614755 | LIG4 | c.1788G>T (p.Glu596Asp) c.1989G>T (p.Glu663Asp) c.2025G>T (p.Glu675Asp) c.2001G>T (p.Glu667Asp) | |
13 | g.108209280C= | CA2117794119 | LIG4 | c.1788G= (p.Glu596=) c.1989G= (p.Glu663=) c.2025G= (p.Glu675=) c.2001G= (p.Glu667=) | |
13 | g.108209280C>G | CA7043570 | LIG4 | c.1788G>C (p.Glu596Asp) c.1989G>C (p.Glu663Asp) c.2025G>C (p.Glu675Asp) c.2001G>C (p.Glu667Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209280C>T | CA484975216 | LIG4 | c.1788G>A (p.Glu596=) c.1989G>A (p.Glu663=) c.2025G>A (p.Glu675=) c.2001G>A (p.Glu667=) | |
13 | g.108209282_108209283del | CA2117794118 | LIG4 | c.1787_1788del (p.Glu596ValfsTer9) c.1988_1989del (p.Glu663ValfsTer9) c.2024_2025del (p.Glu675ValfsTer9) c.2000_2001del (p.Glu667ValfsTer9) | dbSNP |
13 | g.108209281T>A | CA388614763 | LIG4 | c.1787A>T (p.Glu596Val) c.1988A>T (p.Glu663Val) c.2024A>T (p.Glu675Val) c.2000A>T (p.Glu667Val) | |
13 | g.108209281T>C | CA388614766 | LIG4 | c.1787A>G (p.Glu596Gly) c.1988A>G (p.Glu663Gly) c.2024A>G (p.Glu675Gly) c.2000A>G (p.Glu667Gly) | |
13 | g.108209281T>G | CA388614769 | LIG4 | c.1787A>C (p.Glu596Ala) c.1988A>C (p.Glu663Ala) c.2024A>C (p.Glu675Ala) c.2000A>C (p.Glu667Ala) | |
13 | g.108209282C>A | CA388614773 | LIG4 | c.1786G>T (p.Glu596Ter) c.1987G>T (p.Glu663Ter) c.2023G>T (p.Glu675Ter) c.1999G>T (p.Glu667Ter) | |
13 | g.108209282C>G | CA388614776 | LIG4 | c.1786G>C (p.Glu596Gln) c.1987G>C (p.Glu663Gln) c.2023G>C (p.Glu675Gln) c.1999G>C (p.Glu667Gln) | |
13 | g.108209282C>T | CA388614782 | LIG4 | c.1786G>A (p.Glu596Lys) c.1987G>A (p.Glu663Lys) c.2023G>A (p.Glu675Lys) c.1999G>A (p.Glu667Lys) | |
13 | g.108209283T>A | CA484975222 | LIG4 | c.1785A>T (p.Val595=) c.1986A>T (p.Val662=) c.2022A>T (p.Val674=) c.1998A>T (p.Val666=) | |
13 | g.108209283T>C | CA484975221 | LIG4 | c.1785A>G (p.Val595=) c.1986A>G (p.Val662=) c.2022A>G (p.Val674=) c.1998A>G (p.Val666=) | |
13 | g.108209283T>G | CA484975220 | LIG4 | c.1785A>C (p.Val595=) c.1986A>C (p.Val662=) c.2022A>C (p.Val674=) c.1998A>C (p.Val666=) | |
13 | g.108209284A= | CA2117794120 | LIG4 | c.1784T= (p.Val595=) c.1985T= (p.Val662=) c.2021T= (p.Val674=) c.1997T= (p.Val666=) | |
13 | g.108209284A>C | CA388614784 | LIG4 | c.1784T>G (p.Val595Gly) c.1985T>G (p.Val662Gly) c.2021T>G (p.Val674Gly) c.1997T>G (p.Val666Gly) | |
13 | g.108209284A>G | CA256180258 | LIG4 | c.1784T>C (p.Val595Ala) c.1985T>C (p.Val662Ala) c.2021T>C (p.Val674Ala) c.1997T>C (p.Val666Ala) | dbSNP gnomAD v4 |
13 | g.108209284A>T | CA388614788 | LIG4 | c.1784T>A (p.Val595Glu) c.1985T>A (p.Val662Glu) c.2021T>A (p.Val674Glu) c.1997T>A (p.Val666Glu) | |
13 | g.108209285C>A | CA388614797 | LIG4 | c.1783G>T (p.Val595Leu) c.1984G>T (p.Val662Leu) c.2020G>T (p.Val674Leu) c.1996G>T (p.Val666Leu) | gnomAD v4 |
13 | g.108209285C>G | CA388614796 | LIG4 | c.1783G>C (p.Val595Leu) c.1984G>C (p.Val662Leu) c.2020G>C (p.Val674Leu) c.1996G>C (p.Val666Leu) | |
13 | g.108209285C>T | CA388614794 | LIG4 | c.1783G>A (p.Val595Ile) c.1984G>A (p.Val662Ile) c.2020G>A (p.Val674Ile) c.1996G>A (p.Val666Ile) | |
13 | g.108209286A= | CA2117794121 | LIG4 | c.1782T= (p.Asp594=) c.1983T= (p.Asp661=) c.2019T= (p.Asp673=) c.1995T= (p.Asp665=) | |
13 | g.108209286A>C | CA388614801 | LIG4 | c.1782T>G (p.Asp594Glu) c.1983T>G (p.Asp661Glu) c.2019T>G (p.Asp673Glu) c.1995T>G (p.Asp665Glu) | |
13 | g.108209286A>G | CA7043571 | LIG4 | c.1782T>C (p.Asp594=) c.1983T>C (p.Asp661=) c.2019T>C (p.Asp673=) c.1995T>C (p.Asp665=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209286A>T | CA388614806 | LIG4 | c.1782T>A (p.Asp594Glu) c.1983T>A (p.Asp661Glu) c.2019T>A (p.Asp673Glu) c.1995T>A (p.Asp665Glu) | |
13 | g.108209287del | CA2695218921 | LIG4 | c.1781del (p.Asp594ValfsTer2) c.1982del (p.Asp661ValfsTer2) c.2018del (p.Asp673ValfsTer2) c.1994del (p.Asp665ValfsTer2) | |
13 | g.108209287T>A | CA388614816 | LIG4 | c.1781A>T (p.Asp594Val) c.1982A>T (p.Asp661Val) c.2018A>T (p.Asp673Val) c.1994A>T (p.Asp665Val) | dbSNP |
13 | g.108209287T>C | CA388614819 | LIG4 | c.1781A>G (p.Asp594Gly) c.1982A>G (p.Asp661Gly) c.2018A>G (p.Asp673Gly) c.1994A>G (p.Asp665Gly) | |
13 | g.108209287T>G | CA388614822 | LIG4 | c.1781A>C (p.Asp594Ala) c.1982A>C (p.Asp661Ala) c.2018A>C (p.Asp673Ala) c.1994A>C (p.Asp665Ala) | ClinVar dbSNP |
13 | g.108209287T= | CA2117794122 | LIG4 | c.1781A= (p.Asp594=) c.1982A= (p.Asp661=) c.2018A= (p.Asp673=) c.1994A= (p.Asp665=) | |
13 | g.108209288del | CA2623644103 | LIG4 | c.1780del (p.Asp594MetfsTer2) c.1981del (p.Asp661MetfsTer2) c.2017del (p.Asp673MetfsTer2) c.1993del (p.Asp665MetfsTer2) | gnomAD v4 |
13 | g.108209288C>A | CA388614826 | LIG4 | c.1780G>T (p.Asp594Tyr) c.1981G>T (p.Asp661Tyr) c.2017G>T (p.Asp673Tyr) c.1993G>T (p.Asp665Tyr) | COSMIC |
13 | g.108209288C= | CA2117794123 | LIG4 | c.1780G= (p.Asp594=) c.1981G= (p.Asp661=) c.2017G= (p.Asp673=) c.1993G= (p.Asp665=) | |
13 | g.108209288C>G | CA388614829 | LIG4 | c.1780G>C (p.Asp594His) c.1981G>C (p.Asp661His) c.2017G>C (p.Asp673His) c.1993G>C (p.Asp665His) | |
13 | g.108209288C>T | CA388614833 | LIG4 | c.1780G>A (p.Asp594Asn) c.1981G>A (p.Asp661Asn) c.2017G>A (p.Asp673Asn) c.1993G>A (p.Asp665Asn) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209289T>A | CA388614838 | LIG4 | c.1779A>T (p.Glu593Asp) c.1980A>T (p.Glu660Asp) c.2016A>T (p.Glu672Asp) c.1992A>T (p.Glu664Asp) | |
13 | g.108209289T>C | CA256180262 | LIG4 | c.1779A>G (p.Glu593=) c.1980A>G (p.Glu660=) c.2016A>G (p.Glu672=) c.1992A>G (p.Glu664=) | dbSNP |
13 | g.108209289T>G | CA388614843 | LIG4 | c.1779A>C (p.Glu593Asp) c.1980A>C (p.Glu660Asp) c.2016A>C (p.Glu672Asp) c.1992A>C (p.Glu664Asp) | |
13 | g.108209289T= | CA2018068608 | LIG4 | c.1779A= (p.Glu593=) c.1980A= (p.Glu660=) c.2016A= (p.Glu672=) c.1992A= (p.Glu664=) | |
13 | g.108209290T>A | CA388614856 | LIG4 | c.1778A>T (p.Glu593Val) c.1979A>T (p.Glu660Val) c.2015A>T (p.Glu672Val) c.1991A>T (p.Glu664Val) | |
13 | g.108209290T>C | CA388614850 | LIG4 | c.1778A>G (p.Glu593Gly) c.1979A>G (p.Glu660Gly) c.2015A>G (p.Glu672Gly) c.1991A>G (p.Glu664Gly) | |
13 | g.108209290T>G | CA388614847 | LIG4 | c.1778A>C (p.Glu593Ala) c.1979A>C (p.Glu660Ala) c.2015A>C (p.Glu672Ala) c.1991A>C (p.Glu664Ala) | |
13 | g.108209291C>A | CA388614860 | LIG4 | c.1777G>T (p.Glu593Ter) c.1978G>T (p.Glu660Ter) c.2014G>T (p.Glu672Ter) c.1990G>T (p.Glu664Ter) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209291C= | CA2117794124 | LIG4 | c.1777G= (p.Glu593=) c.1978G= (p.Glu660=) c.2014G= (p.Glu672=) c.1990G= (p.Glu664=) | |
13 | g.108209291C>G | CA388614863 | LIG4 | c.1777G>C (p.Glu593Gln) c.1978G>C (p.Glu660Gln) c.2014G>C (p.Glu672Gln) c.1990G>C (p.Glu664Gln) | |
13 | g.108209291C>T | CA388614869 | LIG4 | c.1777G>A (p.Glu593Lys) c.1978G>A (p.Glu660Lys) c.2014G>A (p.Glu672Lys) c.1990G>A (p.Glu664Lys) | |
13 | g.108209292A>C | CA388614872 | LIG4 | c.1776T>G (p.Phe592Leu) c.1977T>G (p.Phe659Leu) c.2013T>G (p.Phe671Leu) c.1989T>G (p.Phe663Leu) | |
13 | g.108209292A>G | CA484975246 | LIG4 | c.1776T>C (p.Phe592=) c.1977T>C (p.Phe659=) c.2013T>C (p.Phe671=) c.1989T>C (p.Phe663=) | |
13 | g.108209292A>T | CA388614880 | LIG4 | c.1776T>A (p.Phe592Leu) c.1977T>A (p.Phe659Leu) c.2013T>A (p.Phe671Leu) c.1989T>A (p.Phe663Leu) | |
13 | g.108209293A>C | CA388614885 | LIG4 | c.1775T>G (p.Phe592Cys) c.1976T>G (p.Phe659Cys) c.2012T>G (p.Phe671Cys) c.1988T>G (p.Phe663Cys) | |
13 | g.108209293A>G | CA388614888 | LIG4 | c.1775T>C (p.Phe592Ser) c.1976T>C (p.Phe659Ser) c.2012T>C (p.Phe671Ser) c.1988T>C (p.Phe663Ser) | gnomAD v4 |
13 | g.108209293A>T | CA388614894 | LIG4 | c.1775T>A (p.Phe592Tyr) c.1976T>A (p.Phe659Tyr) c.2012T>A (p.Phe671Tyr) c.1988T>A (p.Phe663Tyr) | |
13 | g.108209294A>C | CA388614895 | LIG4 | c.1774T>G (p.Phe592Val) c.1975T>G (p.Phe659Val) c.2011T>G (p.Phe671Val) c.1987T>G (p.Phe663Val) | |
13 | g.108209294A>G | CA388614897 | LIG4 | c.1774T>C (p.Phe592Leu) c.1975T>C (p.Phe659Leu) c.2011T>C (p.Phe671Leu) c.1987T>C (p.Phe663Leu) | |
13 | g.108209294A>T | CA388614900 | LIG4 | c.1774T>A (p.Phe592Ile) c.1975T>A (p.Phe659Ile) c.2011T>A (p.Phe671Ile) c.1987T>A (p.Phe663Ile) | |
13 | g.108209295T>A | CA484975256 | LIG4 | c.1773A>T (p.Ile591=) c.1974A>T (p.Ile658=) c.2010A>T (p.Ile670=) c.1986A>T (p.Ile662=) | |
13 | g.108209295T>C | CA7043572 | LIG4 | c.1773A>G (p.Ile591Met) c.1974A>G (p.Ile658Met) c.2010A>G (p.Ile670Met) c.1986A>G (p.Ile662Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209295T>G | CA484975257 | LIG4 | c.1773A>C (p.Ile591=) c.1974A>C (p.Ile658=) c.2010A>C (p.Ile670=) c.1986A>C (p.Ile662=) | |
13 | g.108209295T= | CA2117794125 | LIG4 | c.1773A= (p.Ile591=) c.1974A= (p.Ile658=) c.2010A= (p.Ile670=) c.1986A= (p.Ile662=) | |
13 | g.108209296del | CA2623644104 | LIG4 | c.1772del (p.Ile591AsnfsTer5) c.1973del (p.Ile658AsnfsTer5) c.2009del (p.Ile670AsnfsTer5) c.1985del (p.Ile662AsnfsTer5) | ClinVar gnomAD v4 |
13 | g.108209296A= | CA2117794126 | LIG4 | c.1772T= (p.Ile591=) c.1973T= (p.Ile658=) c.2009T= (p.Ile670=) c.1985T= (p.Ile662=) | |
13 | g.108209296A>C | CA388614911 | LIG4 | c.1772T>G (p.Ile591Arg) c.1973T>G (p.Ile658Arg) c.2009T>G (p.Ile670Arg) c.1985T>G (p.Ile662Arg) | |
13 | g.108209296A>G | CA388614908 | LIG4 | c.1772T>C (p.Ile591Thr) c.1973T>C (p.Ile658Thr) c.2009T>C (p.Ile670Thr) c.1985T>C (p.Ile662Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.108209296A>T | CA388614905 | LIG4 | c.1772T>A (p.Ile591Lys) c.1973T>A (p.Ile658Lys) c.2009T>A (p.Ile670Lys) c.1985T>A (p.Ile662Lys) | |
13 | g.108209297T>A | CA388614931 | LIG4 | c.1771A>T (p.Ile591Leu) c.1972A>T (p.Ile658Leu) c.2008A>T (p.Ile670Leu) c.1984A>T (p.Ile662Leu) | |
13 | g.108209297T>C | CA7043573 | LIG4 | c.1771A>G (p.Ile591Val) c.1972A>G (p.Ile658Val) c.2008A>G (p.Ile670Val) c.1984A>G (p.Ile662Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209297T>G | CA388614939 | LIG4 | c.1771A>C (p.Ile591Leu) c.1972A>C (p.Ile658Leu) c.2008A>C (p.Ile670Leu) c.1984A>C (p.Ile662Leu) | |
13 | g.108209297T= | CA2117794127 | LIG4 | c.1771A= (p.Ile591=) c.1972A= (p.Ile658=) c.2008A= (p.Ile670=) c.1984A= (p.Ile662=) | |
13 | g.108209298A= | CA2117794128 | LIG4 | c.1770T= (p.Asn590=) c.1971T= (p.Asn657=) c.2007T= (p.Asn669=) c.1983T= (p.Asn661=) | |
13 | g.108209298A>C | CA388614942 | LIG4 | c.1770T>G (p.Asn590Lys) c.1971T>G (p.Asn657Lys) c.2007T>G (p.Asn669Lys) c.1983T>G (p.Asn661Lys) | |
13 | g.108209298A>G | CA7043574 | LIG4 | c.1770T>C (p.Asn590=) c.1971T>C (p.Asn657=) c.2007T>C (p.Asn669=) c.1983T>C (p.Asn661=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209298A>T | CA388614950 | LIG4 | c.1770T>A (p.Asn590Lys) c.1971T>A (p.Asn657Lys) c.2007T>A (p.Asn669Lys) c.1983T>A (p.Asn661Lys) | |
13 | g.108209299T>A | CA388614955 | LIG4 | c.1769A>T (p.Asn590Ile) c.1970A>T (p.Asn657Ile) c.2006A>T (p.Asn669Ile) c.1982A>T (p.Asn661Ile) | |
13 | g.108209299T>C | CA7043575 | LIG4 | c.1769A>G (p.Asn590Ser) c.1970A>G (p.Asn657Ser) c.2006A>G (p.Asn669Ser) c.1982A>G (p.Asn661Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209299T>G | CA388614959 | LIG4 | c.1769A>C (p.Asn590Thr) c.1970A>C (p.Asn657Thr) c.2006A>C (p.Asn669Thr) c.1982A>C (p.Asn661Thr) | |
13 | g.108209299T= | CA2117794129 | LIG4 | c.1769A= (p.Asn590=) c.1970A= (p.Asn657=) c.2006A= (p.Asn669=) c.1982A= (p.Asn661=) | |
13 | g.108209300T>A | CA388614966 | LIG4 | c.1768A>T (p.Asn590Tyr) c.1969A>T (p.Asn657Tyr) c.2005A>T (p.Asn669Tyr) c.1981A>T (p.Asn661Tyr) | |
13 | g.108209300T>C | CA388614970 | LIG4 | c.1768A>G (p.Asn590Asp) c.1969A>G (p.Asn657Asp) c.2005A>G (p.Asn669Asp) c.1981A>G (p.Asn661Asp) | |
13 | g.108209300T>G | CA388614972 | LIG4 | c.1768A>C (p.Asn590His) c.1969A>C (p.Asn657His) c.2005A>C (p.Asn669His) c.1981A>C (p.Asn661His) | |
13 | g.108209301A= | CA2117794130 | LIG4 | c.1767T= (p.Ser589=) c.1968T= (p.Ser656=) c.2004T= (p.Ser668=) c.1980T= (p.Ser660=) | |
13 | g.108209301A>C | CA484975269 | LIG4 | c.1767T>G (p.Ser589=) c.1968T>G (p.Ser656=) c.2004T>G (p.Ser668=) c.1980T>G (p.Ser660=) | |
13 | g.108209301A>G | CA484975271 | LIG4 | c.1767T>C (p.Ser589=) c.1968T>C (p.Ser656=) c.2004T>C (p.Ser668=) c.1980T>C (p.Ser660=) | |
13 | g.108209301A>T | CA7043576 | LIG4 | c.1767T>A (p.Ser589=) c.1968T>A (p.Ser656=) c.2004T>A (p.Ser668=) c.1980T>A (p.Ser660=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209302G>A | CA388614980 | LIG4 | c.1766C>T (p.Ser589Phe) c.1967C>T (p.Ser656Phe) c.2003C>T (p.Ser668Phe) c.1979C>T (p.Ser660Phe) | |
13 | g.108209302G>C | CA388614984 | LIG4 | c.1766C>G (p.Ser589Cys) c.1967C>G (p.Ser656Cys) c.2003C>G (p.Ser668Cys) c.1979C>G (p.Ser660Cys) | |
13 | g.108209302G>T | CA388614977 | LIG4 | c.1766C>A (p.Ser589Tyr) c.1967C>A (p.Ser656Tyr) c.2003C>A (p.Ser668Tyr) c.1979C>A (p.Ser660Tyr) | |
13 | g.108209303A>C | CA388614989 | LIG4 | c.1765T>G (p.Ser589Ala) c.1966T>G (p.Ser656Ala) c.2002T>G (p.Ser668Ala) c.1978T>G (p.Ser660Ala) | |
13 | g.108209303A>G | CA388614986 | LIG4 | c.1765T>C (p.Ser589Pro) c.1966T>C (p.Ser656Pro) c.2002T>C (p.Ser668Pro) c.1978T>C (p.Ser660Pro) | |
13 | g.108209303A>T | CA388614993 | LIG4 | c.1765T>A (p.Ser589Thr) c.1966T>A (p.Ser656Thr) c.2002T>A (p.Ser668Thr) c.1978T>A (p.Ser660Thr) | |
13 | g.108209304A= | CA2117794131 | LIG4 | c.1764T= (p.Ile588=) c.1965T= (p.Ile655=) c.2001T= (p.Ile667=) c.1977T= (p.Ile659=) | |
13 | g.108209304A>C | CA7043577 | LIG4 | c.1764T>G (p.Ile588Met) c.1965T>G (p.Ile655Met) c.2001T>G (p.Ile667Met) c.1977T>G (p.Ile659Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209304A>G | CA484975278 | LIG4 | c.1764T>C (p.Ile588=) c.1965T>C (p.Ile655=) c.2001T>C (p.Ile667=) c.1977T>C (p.Ile659=) | |
13 | g.108209304A>T | CA484975282 | LIG4 | c.1764T>A (p.Ile588=) c.1965T>A (p.Ile655=) c.2001T>A (p.Ile667=) c.1977T>A (p.Ile659=) | |
13 | g.108209305A>C | CA388615005 | LIG4 | c.1763T>G (p.Ile588Ser) c.1964T>G (p.Ile655Ser) c.2000T>G (p.Ile667Ser) c.1976T>G (p.Ile659Ser) | |
13 | g.108209305A>G | CA388614999 | LIG4 | c.1763T>C (p.Ile588Thr) c.1964T>C (p.Ile655Thr) c.2000T>C (p.Ile667Thr) c.1976T>C (p.Ile659Thr) | |
13 | g.108209305A>T | CA388615003 | LIG4 | c.1763T>A (p.Ile588Asn) c.1964T>A (p.Ile655Asn) c.2000T>A (p.Ile667Asn) c.1976T>A (p.Ile659Asn) | |
13 | g.108209306T>A | CA388615008 | LIG4 | c.1762A>T (p.Ile588Phe) c.1963A>T (p.Ile655Phe) c.1999A>T (p.Ile667Phe) c.1975A>T (p.Ile659Phe) | |
13 | g.108209306T>C | CA388615009 | LIG4 | c.1762A>G (p.Ile588Val) c.1963A>G (p.Ile655Val) c.1999A>G (p.Ile667Val) c.1975A>G (p.Ile659Val) | |
13 | g.108209306T>G | CA388615013 | LIG4 | c.1762A>C (p.Ile588Leu) c.1963A>C (p.Ile655Leu) c.1999A>C (p.Ile667Leu) c.1975A>C (p.Ile659Leu) | |
13 | g.108209307T>A | CA388615017 | LIG4 | c.1761A>T (p.Lys587Asn) c.1962A>T (p.Lys654Asn) c.1998A>T (p.Lys666Asn) c.1974A>T (p.Lys658Asn) | |
13 | g.108209307T>C | CA484975293 | LIG4 | c.1761A>G (p.Lys587=) c.1962A>G (p.Lys654=) c.1998A>G (p.Lys666=) c.1974A>G (p.Lys658=) | |
13 | g.108209307T>G | CA7043578 | LIG4 | c.1761A>C (p.Lys587Asn) c.1962A>C (p.Lys654Asn) c.1998A>C (p.Lys666Asn) c.1974A>C (p.Lys658Asn) | dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.108209307T= | CA2117794132 | LIG4 | c.1761A= (p.Lys587=) c.1962A= (p.Lys654=) c.1998A= (p.Lys666=) c.1974A= (p.Lys658=) | |
13 | g.108209308T>A | CA388615030 | LIG4 | c.1760A>T (p.Lys587Ile) c.1961A>T (p.Lys654Ile) c.1997A>T (p.Lys666Ile) c.1973A>T (p.Lys658Ile) | |
13 | g.108209308T>C | CA388615024 | LIG4 | c.1760A>G (p.Lys587Arg) c.1961A>G (p.Lys654Arg) c.1997A>G (p.Lys666Arg) c.1973A>G (p.Lys658Arg) | |
13 | g.108209308T>G | CA388615027 | LIG4 | c.1760A>C (p.Lys587Thr) c.1961A>C (p.Lys654Thr) c.1997A>C (p.Lys666Thr) c.1973A>C (p.Lys658Thr) | gnomAD v4 |
13 | g.108209309T>A | CA388615032 | LIG4 | c.1759A>T (p.Lys587Ter) c.1960A>T (p.Lys654Ter) c.1996A>T (p.Lys666Ter) c.1972A>T (p.Lys658Ter) | |
13 | g.108209309T>C | CA388615048 | LIG4 | c.1759A>G (p.Lys587Glu) c.1960A>G (p.Lys654Glu) c.1996A>G (p.Lys666Glu) c.1972A>G (p.Lys658Glu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209309T>G | CA388615052 | LIG4 | c.1759A>C (p.Lys587Gln) c.1960A>C (p.Lys654Gln) c.1996A>C (p.Lys666Gln) c.1972A>C (p.Lys658Gln) | |
13 | g.108209309T= | CA2117794133 | LIG4 | c.1759A= (p.Lys587=) c.1960A= (p.Lys654=) c.1996A= (p.Lys666=) c.1972A= (p.Lys658=) | |
13 | g.108209310G>A | CA484975298 | LIG4 | c.1758C>T (p.Asn586=) c.1959C>T (p.Asn653=) c.1995C>T (p.Asn665=) c.1971C>T (p.Asn657=) | gnomAD v4 |
13 | g.108209310G>C | CA388615056 | LIG4 | c.1758C>G (p.Asn586Lys) c.1959C>G (p.Asn653Lys) c.1995C>G (p.Asn665Lys) c.1971C>G (p.Asn657Lys) | gnomAD v4 |
13 | g.108209310G>T | CA388615070 | LIG4 | c.1758C>A (p.Asn586Lys) c.1959C>A (p.Asn653Lys) c.1995C>A (p.Asn665Lys) c.1971C>A (p.Asn657Lys) | |
13 | g.108209310_108209311delinsGT | CA2117794134 | LIG4 | c.1757_1758delinsAC (p.Asn586=) c.1958_1959delinsAC (p.Asn653=) c.1994_1995delinsAC (p.Asn665=) c.1970_1971delinsAC (p.Asn657=) | |
13 | g.108209311T>A | CA388615073 | LIG4 | c.1757A>T (p.Asn586Ile) c.1958A>T (p.Asn653Ile) c.1994A>T (p.Asn665Ile) c.1970A>T (p.Asn657Ile) | |
13 | g.108209311T>C | CA388615085 | LIG4 | c.1757A>G (p.Asn586Ser) c.1958A>G (p.Asn653Ser) c.1994A>G (p.Asn665Ser) c.1970A>G (p.Asn657Ser) | gnomAD v4 |
13 | g.108209311T>G | CA388615081 | LIG4 | c.1757A>C (p.Asn586Thr) c.1958A>C (p.Asn653Thr) c.1994A>C (p.Asn665Thr) c.1970A>C (p.Asn657Thr) | |
13 | g.108209312del | CA612360448 | LIG4 | c.1757del (p.Asn586ThrfsTer10) c.1958del (p.Asn653ThrfsTer10) c.1994del (p.Asn665ThrfsTer10) c.1970del (p.Asn657ThrfsTer10) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209312T>A | CA388615087 | LIG4 | c.1756A>T (p.Asn586Tyr) c.1957A>T (p.Asn653Tyr) c.1993A>T (p.Asn665Tyr) c.1969A>T (p.Asn657Tyr) | |
13 | g.108209312T>C | CA388615088 | LIG4 | c.1756A>G (p.Asn586Asp) c.1957A>G (p.Asn653Asp) c.1993A>G (p.Asn665Asp) c.1969A>G (p.Asn657Asp) | |
13 | g.108209312T>G | CA388615091 | LIG4 | c.1756A>C (p.Asn586His) c.1957A>C (p.Asn653His) c.1993A>C (p.Asn665His) c.1969A>C (p.Asn657His) | |
13 | g.108209313A>C | CA484975303 | LIG4 | c.1755T>G (p.Val585=) c.1956T>G (p.Val652=) c.1992T>G (p.Val664=) c.1968T>G (p.Val656=) | |
13 | g.108209313A>G | CA484975305 | LIG4 | c.1755T>C (p.Val585=) c.1956T>C (p.Val652=) c.1992T>C (p.Val664=) c.1968T>C (p.Val656=) | |
13 | g.108209313A>T | CA484975307 | LIG4 | c.1755T>A (p.Val585=) c.1956T>A (p.Val652=) c.1992T>A (p.Val664=) c.1968T>A (p.Val656=) | |
13 | g.108209314A>C | CA388615099 | LIG4 | c.1754T>G (p.Val585Gly) c.1955T>G (p.Val652Gly) c.1991T>G (p.Val664Gly) c.1967T>G (p.Val656Gly) | |
13 | g.108209314A>G | CA388615100 | LIG4 | c.1754T>C (p.Val585Ala) c.1955T>C (p.Val652Ala) c.1991T>C (p.Val664Ala) c.1967T>C (p.Val656Ala) | |
13 | g.108209314A>T | CA388615109 | LIG4 | c.1754T>A (p.Val585Asp) c.1955T>A (p.Val652Asp) c.1991T>A (p.Val664Asp) c.1967T>A (p.Val656Asp) | |
13 | g.108209315C>A | CA388615112 | LIG4 | c.1753G>T (p.Val585Phe) c.1954G>T (p.Val652Phe) c.1990G>T (p.Val664Phe) c.1966G>T (p.Val656Phe) | |
13 | g.108209315C= | CA2117794135 | LIG4 | c.1753G= (p.Val585=) c.1954G= (p.Val652=) c.1990G= (p.Val664=) c.1966G= (p.Val656=) | |
13 | g.108209315C>G | CA388615114 | LIG4 | c.1753G>C (p.Val585Leu) c.1954G>C (p.Val652Leu) c.1990G>C (p.Val664Leu) c.1966G>C (p.Val656Leu) | |
13 | g.108209315C>T | CA7043579 | LIG4 | c.1753G>A (p.Val585Ile) c.1954G>A (p.Val652Ile) c.1990G>A (p.Val664Ile) c.1966G>A (p.Val656Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108209316G>A | CA7043580 | LIG4 | c.1752C>T (p.Asn584=) c.1953C>T (p.Asn651=) c.1989C>T (p.Asn663=) c.1965C>T (p.Asn655=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108209316G>C | CA388615121 | LIG4 | c.1752C>G (p.Asn584Lys) c.1953C>G (p.Asn651Lys) c.1989C>G (p.Asn663Lys) c.1965C>G (p.Asn655Lys) | |
13 | g.108209316G= | CA2117794136 | LIG4 | c.1752C= (p.Asn584=) c.1953C= (p.Asn651=) c.1989C= (p.Asn663=) c.1965C= (p.Asn655=) | |
13 | g.108209316G>T | CA388615125 | LIG4 | c.1752C>A (p.Asn584Lys) c.1953C>A (p.Asn651Lys) c.1989C>A (p.Asn663Lys) c.1965C>A (p.Asn655Lys) | |
13 | g.108209317T>A | CA388615138 | LIG4 | c.1751A>T (p.Asn584Ile) c.1952A>T (p.Asn651Ile) c.1988A>T (p.Asn663Ile) c.1964A>T (p.Asn655Ile) | |
13 | g.108209317T>C | CA388615131 | LIG4 | c.1751A>G (p.Asn584Ser) c.1952A>G (p.Asn651Ser) c.1988A>G (p.Asn663Ser) c.1964A>G (p.Asn655Ser) | |
13 | g.108209317T>G | CA388615135 | LIG4 | c.1751A>C (p.Asn584Thr) c.1952A>C (p.Asn651Thr) c.1988A>C (p.Asn663Thr) c.1964A>C (p.Asn655Thr) | |
13 | g.108209318T>A | CA388615144 | LIG4 | c.1750A>T (p.Asn584Tyr) c.1951A>T (p.Asn651Tyr) c.1987A>T (p.Asn663Tyr) c.1963A>T (p.Asn655Tyr) | |
13 | g.108209318T>C | CA388615147 | LIG4 | c.1750A>G (p.Asn584Asp) c.1951A>G (p.Asn651Asp) c.1987A>G (p.Asn663Asp) c.1963A>G (p.Asn655Asp) | |
13 | g.108209318T>G | CA7043581 | LIG4 | c.1750A>C (p.Asn584His) c.1951A>C (p.Asn651His) c.1987A>C (p.Asn663His) c.1963A>C (p.Asn655His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209318T= | CA2117794137 | LIG4 | c.1750A= (p.Asn584=) c.1951A= (p.Asn651=) c.1987A= (p.Asn663=) c.1963A= (p.Asn655=) | |
13 | g.108209319A>C | CA484975321 | LIG4 | c.1749T>G (p.Thr583=) c.1950T>G (p.Thr650=) c.1986T>G (p.Thr662=) c.1962T>G (p.Thr654=) | |
13 | g.108209319A>G | CA484975325 | LIG4 | c.1749T>C (p.Thr583=) c.1950T>C (p.Thr650=) c.1986T>C (p.Thr662=) c.1962T>C (p.Thr654=) | |
13 | g.108209319A>T | CA484975326 | LIG4 | c.1749T>A (p.Thr583=) c.1950T>A (p.Thr650=) c.1986T>A (p.Thr662=) c.1962T>A (p.Thr654=) | gnomAD v4 |
13 | g.108209320G>A | CA7043582 | LIG4 | c.1748C>T (p.Thr583Ile) c.1949C>T (p.Thr650Ile) c.1985C>T (p.Thr662Ile) c.1961C>T (p.Thr654Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209320G>C | CA388615150 | LIG4 | c.1748C>G (p.Thr583Ser) c.1949C>G (p.Thr650Ser) c.1985C>G (p.Thr662Ser) c.1961C>G (p.Thr654Ser) | |
13 | g.108209320G= | CA2117794138 | LIG4 | c.1748C= (p.Thr583=) c.1949C= (p.Thr650=) c.1985C= (p.Thr662=) c.1961C= (p.Thr654=) | |
13 | g.108209320G>T | CA388615151 | LIG4 | c.1748C>A (p.Thr583Asn) c.1949C>A (p.Thr650Asn) c.1985C>A (p.Thr662Asn) c.1961C>A (p.Thr654Asn) | COSMIC |
13 | g.108209321T>A | CA388615153 | LIG4 | c.1747A>T (p.Thr583Ser) c.1948A>T (p.Thr650Ser) c.1984A>T (p.Thr662Ser) c.1960A>T (p.Thr654Ser) | |
13 | g.108209321T>C | CA388615155 | LIG4 | c.1747A>G (p.Thr583Ala) c.1948A>G (p.Thr650Ala) c.1984A>G (p.Thr662Ala) c.1960A>G (p.Thr654Ala) | |
13 | g.108209321T>G | CA7043583 | LIG4 | c.1747A>C (p.Thr583Pro) c.1948A>C (p.Thr650Pro) c.1984A>C (p.Thr662Pro) c.1960A>C (p.Thr654Pro) | dbSNP ExAC gnomAD v4 |
13 | g.108209321T= | CA2117794139 | LIG4 | c.1747A= (p.Thr583=) c.1948A= (p.Thr650=) c.1984A= (p.Thr662=) c.1960A= (p.Thr654=) | |
13 | g.108209322A>C | CA484975330 | LIG4 | c.1746T>G (p.Leu582=) c.1947T>G (p.Leu649=) c.1983T>G (p.Leu661=) c.1959T>G (p.Leu653=) | |
13 | g.108209322A>G | CA484975331 | LIG4 | c.1746T>C (p.Leu582=) c.1947T>C (p.Leu649=) c.1983T>C (p.Leu661=) c.1959T>C (p.Leu653=) | gnomAD v4 |
13 | g.108209322A>T | CA484975332 | LIG4 | c.1746T>A (p.Leu582=) c.1947T>A (p.Leu649=) c.1983T>A (p.Leu661=) c.1959T>A (p.Leu653=) | |
13 | g.108209323A>C | CA388615158 | LIG4 | c.1745T>G (p.Leu582Arg) c.1946T>G (p.Leu649Arg) c.1982T>G (p.Leu661Arg) c.1958T>G (p.Leu653Arg) | |
13 | g.108209323A>G | CA388615161 | LIG4 | c.1745T>C (p.Leu582Pro) c.1946T>C (p.Leu649Pro) c.1982T>C (p.Leu661Pro) c.1958T>C (p.Leu653Pro) | |
13 | g.108209323A>T | CA388615162 | LIG4 | c.1745T>A (p.Leu582His) c.1946T>A (p.Leu649His) c.1982T>A (p.Leu661His) c.1958T>A (p.Leu653His) | |
13 | g.108209324G>A | CA388615165 | LIG4 | c.1744C>T (p.Leu582Phe) c.1945C>T (p.Leu649Phe) c.1981C>T (p.Leu661Phe) c.1957C>T (p.Leu653Phe) | COSMIC |
13 | g.108209324G>C | CA388615168 | LIG4 | c.1744C>G (p.Leu582Val) c.1945C>G (p.Leu649Val) c.1981C>G (p.Leu661Val) c.1957C>G (p.Leu653Val) | |
13 | g.108209324G>T | CA388615171 | LIG4 | c.1744C>A (p.Leu582Ile) c.1945C>A (p.Leu649Ile) c.1981C>A (p.Leu661Ile) c.1957C>A (p.Leu653Ile) | |
13 | g.108209325G>A | CA484975336 | LIG4 | c.1743C>T (p.Asn581=) c.1944C>T (p.Asn648=) c.1980C>T (p.Asn660=) c.1956C>T (p.Asn652=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209325G>C | CA388615174 | LIG4 | c.1743C>G (p.Asn581Lys) c.1944C>G (p.Asn648Lys) c.1980C>G (p.Asn660Lys) c.1956C>G (p.Asn652Lys) | |
13 | g.108209325G= | CA2117794140 | LIG4 | c.1743C= (p.Asn581=) c.1944C= (p.Asn648=) c.1980C= (p.Asn660=) c.1956C= (p.Asn652=) | |
13 | g.108209325G>T | CA7043584 | LIG4 | c.1743C>A (p.Asn581Lys) c.1944C>A (p.Asn648Lys) c.1980C>A (p.Asn660Lys) c.1956C>A (p.Asn652Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209326T>A | CA256180322 | LIG4 | c.1742A>T (p.Asn581Ile) c.1943A>T (p.Asn648Ile) c.1979A>T (p.Asn660Ile) c.1955A>T (p.Asn652Ile) | dbSNP gnomAD v4 |
13 | g.108209326T>C | CA388615186 | LIG4 | c.1742A>G (p.Asn581Ser) c.1943A>G (p.Asn648Ser) c.1979A>G (p.Asn660Ser) c.1955A>G (p.Asn652Ser) | |
13 | g.108209326T>G | CA388615189 | LIG4 | c.1742A>C (p.Asn581Thr) c.1943A>C (p.Asn648Thr) c.1979A>C (p.Asn660Thr) c.1955A>C (p.Asn652Thr) | |
13 | g.108209326T= | CA2117794141 | LIG4 | c.1742A= (p.Asn581=) c.1943A= (p.Asn648=) c.1979A= (p.Asn660=) c.1955A= (p.Asn652=) | |
13 | g.108209327T>A | CA388615190 | LIG4 | c.1741A>T (p.Asn581Tyr) c.1942A>T (p.Asn648Tyr) c.1978A>T (p.Asn660Tyr) c.1954A>T (p.Asn652Tyr) | |
13 | g.108209327T>C | CA388615191 | LIG4 | c.1741A>G (p.Asn581Asp) c.1942A>G (p.Asn648Asp) c.1978A>G (p.Asn660Asp) c.1954A>G (p.Asn652Asp) | gnomAD v4 |
13 | g.108209327T>G | CA388615192 | LIG4 | c.1741A>C (p.Asn581His) c.1942A>C (p.Asn648His) c.1978A>C (p.Asn660His) c.1954A>C (p.Asn652His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209327T= | CA2117794142 | LIG4 | c.1741A= (p.Asn581=) c.1942A= (p.Asn648=) c.1978A= (p.Asn660=) c.1954A= (p.Asn652=) | |
13 | g.108209328A>C | CA484975341 | LIG4 | c.1740T>G (p.Pro580=) c.1941T>G (p.Pro647=) c.1977T>G (p.Pro659=) c.1953T>G (p.Pro651=) | |
13 | g.108209328A>G | CA484975345 | LIG4 | c.1740T>C (p.Pro580=) c.1941T>C (p.Pro647=) c.1977T>C (p.Pro659=) c.1953T>C (p.Pro651=) | |
13 | g.108209328A>T | CA484975347 | LIG4 | c.1740T>A (p.Pro580=) c.1941T>A (p.Pro647=) c.1977T>A (p.Pro659=) c.1953T>A (p.Pro651=) | |
13 | g.108209329G>A | CA256180349 | LIG4 | c.1739C>T (p.Pro580Leu) c.1940C>T (p.Pro647Leu) c.1976C>T (p.Pro659Leu) c.1952C>T (p.Pro651Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.108209329G>C | CA388615195 | LIG4 | c.1739C>G (p.Pro580Arg) c.1940C>G (p.Pro647Arg) c.1976C>G (p.Pro659Arg) c.1952C>G (p.Pro651Arg) | gnomAD v4 |
13 | g.108209329G= | CA2117794143 | LIG4 | c.1739C= (p.Pro580=) c.1940C= (p.Pro647=) c.1976C= (p.Pro659=) c.1952C= (p.Pro651=) | |
13 | g.108209329G>T | CA388615198 | LIG4 | c.1739C>A (p.Pro580His) c.1940C>A (p.Pro647His) c.1976C>A (p.Pro659His) c.1952C>A (p.Pro651His) | |
13 | g.108209330G>A | CA256180357 | LIG4 | c.1738C>T (p.Pro580Ser) c.1939C>T (p.Pro647Ser) c.1975C>T (p.Pro659Ser) c.1951C>T (p.Pro651Ser) | ClinVar dbSNP |
13 | g.108209330G>C | CA388615207 | LIG4 | c.1738C>G (p.Pro580Ala) c.1939C>G (p.Pro647Ala) c.1975C>G (p.Pro659Ala) c.1951C>G (p.Pro651Ala) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209330G= | CA2117794144 | LIG4 | c.1738C= (p.Pro580=) c.1939C= (p.Pro647=) c.1975C= (p.Pro659=) c.1951C= (p.Pro651=) | |
13 | g.108209330G>T | CA388615209 | LIG4 | c.1738C>A (p.Pro580Thr) c.1939C>A (p.Pro647Thr) c.1975C>A (p.Pro659Thr) c.1951C>A (p.Pro651Thr) | |
13 | g.108209331T>A | CA256180388 | LIG4 | c.1737A>T (p.Ala579=) c.1938A>T (p.Ala646=) c.1974A>T (p.Ala658=) c.1950A>T (p.Ala650=) | dbSNP |
13 | g.108209331T>C | CA484975355 | LIG4 | c.1737A>G (p.Ala579=) c.1938A>G (p.Ala646=) c.1974A>G (p.Ala658=) c.1950A>G (p.Ala650=) | |
13 | g.108209331T>G | CA484975354 | LIG4 | c.1737A>C (p.Ala579=) c.1938A>C (p.Ala646=) c.1974A>C (p.Ala658=) c.1950A>C (p.Ala650=) | |
13 | g.108209331T= | CA2117794145 | LIG4 | c.1737A= (p.Ala579=) c.1938A= (p.Ala646=) c.1974A= (p.Ala658=) c.1950A= (p.Ala650=) | |
13 | g.108209332G>A | CA388615210 | LIG4 | c.1736C>T (p.Ala579Val) c.1937C>T (p.Ala646Val) c.1973C>T (p.Ala658Val) c.1949C>T (p.Ala650Val) | |
13 | g.108209332G>C | CA388615214 | LIG4 | c.1736C>G (p.Ala579Gly) c.1937C>G (p.Ala646Gly) c.1973C>G (p.Ala658Gly) c.1949C>G (p.Ala650Gly) | |
13 | g.108209332G>T | CA388615211 | LIG4 | c.1736C>A (p.Ala579Glu) c.1937C>A (p.Ala646Glu) c.1973C>A (p.Ala658Glu) c.1949C>A (p.Ala650Glu) | |
13 | g.108209333C>A | CA388615218 | LIG4 | c.1735G>T (p.Ala579Ser) c.1936G>T (p.Ala646Ser) c.1972G>T (p.Ala658Ser) c.1948G>T (p.Ala650Ser) | dbSNP gnomAD v4 |
13 | g.108209333C= | CA2117794146 | LIG4 | c.1735G= (p.Ala579=) c.1936G= (p.Ala646=) c.1972G= (p.Ala658=) c.1948G= (p.Ala650=) | |
13 | g.108209333C>G | CA388615225 | LIG4 | c.1735G>C (p.Ala579Pro) c.1936G>C (p.Ala646Pro) c.1972G>C (p.Ala658Pro) c.1948G>C (p.Ala650Pro) | |
13 | g.108209333C>T | CA388615222 | LIG4 | c.1735G>A (p.Ala579Thr) c.1936G>A (p.Ala646Thr) c.1972G>A (p.Ala658Thr) c.1948G>A (p.Ala650Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209334T>A | CA388615228 | LIG4 | c.1734A>T (p.Lys578Asn) c.1935A>T (p.Lys645Asn) c.1971A>T (p.Lys657Asn) c.1947A>T (p.Lys649Asn) | |
13 | g.108209334T>C | CA484975365 | LIG4 | c.1734A>G (p.Lys578=) c.1935A>G (p.Lys645=) c.1971A>G (p.Lys657=) c.1947A>G (p.Lys649=) | |
13 | g.108209334T>G | CA388615230 | LIG4 | c.1734A>C (p.Lys578Asn) c.1935A>C (p.Lys645Asn) c.1971A>C (p.Lys657Asn) c.1947A>C (p.Lys649Asn) | |
13 | g.108209335T>A | CA388615233 | LIG4 | c.1733A>T (p.Lys578Ile) c.1934A>T (p.Lys645Ile) c.1970A>T (p.Lys657Ile) c.1946A>T (p.Lys649Ile) | |
13 | g.108209335T>C | CA388615236 | LIG4 | c.1733A>G (p.Lys578Arg) c.1934A>G (p.Lys645Arg) c.1970A>G (p.Lys657Arg) c.1946A>G (p.Lys649Arg) | |
13 | g.108209335T>G | CA388615239 | LIG4 | c.1733A>C (p.Lys578Thr) c.1934A>C (p.Lys645Thr) c.1970A>C (p.Lys657Thr) c.1946A>C (p.Lys649Thr) | |
13 | g.108209336T>A | CA388615246 | LIG4 | c.1732A>T (p.Lys578Ter) c.1933A>T (p.Lys645Ter) c.1969A>T (p.Lys657Ter) c.1945A>T (p.Lys649Ter) | |
13 | g.108209336T>C | CA388615247 | LIG4 | c.1732A>G (p.Lys578Glu) c.1933A>G (p.Lys645Glu) c.1969A>G (p.Lys657Glu) c.1945A>G (p.Lys649Glu) | |
13 | g.108209336T>G | CA388615249 | LIG4 | c.1732A>C (p.Lys578Gln) c.1933A>C (p.Lys645Gln) c.1969A>C (p.Lys657Gln) c.1945A>C (p.Lys649Gln) | |
13 | g.108209337T>A | CA388615253 | LIG4 | c.1731A>T (p.Leu577Phe) c.1932A>T (p.Leu644Phe) c.1968A>T (p.Leu656Phe) c.1944A>T (p.Leu648Phe) | |
13 | g.108209337T>C | CA484975375 | LIG4 | c.1731A>G (p.Leu577=) c.1932A>G (p.Leu644=) c.1968A>G (p.Leu656=) c.1944A>G (p.Leu648=) | |
13 | g.108209337T>G | CA388615255 | LIG4 | c.1731A>C (p.Leu577Phe) c.1932A>C (p.Leu644Phe) c.1968A>C (p.Leu656Phe) c.1944A>C (p.Leu648Phe) | ClinVar dbSNP gnomAD v4 |
13 | g.108209338A>C | CA388615258 | LIG4 | c.1730T>G (p.Leu577Ter) c.1931T>G (p.Leu644Ter) c.1967T>G (p.Leu656Ter) c.1943T>G (p.Leu648Ter) | |
13 | g.108209338A>G | CA388615262 | LIG4 | c.1730T>C (p.Leu577Ser) c.1931T>C (p.Leu644Ser) c.1967T>C (p.Leu656Ser) c.1943T>C (p.Leu648Ser) | |
13 | g.108209338A>T | CA388615271 | LIG4 | c.1730T>A (p.Leu577Ter) c.1931T>A (p.Leu644Ter) c.1967T>A (p.Leu656Ter) c.1943T>A (p.Leu648Ter) | |
13 | g.108209339A>C | CA388615274 | LIG4 | c.1729T>G (p.Leu577Val) c.1930T>G (p.Leu644Val) c.1966T>G (p.Leu656Val) c.1942T>G (p.Leu648Val) | |
13 | g.108209339A>G | CA484975381 | LIG4 | c.1729T>C (p.Leu577=) c.1930T>C (p.Leu644=) c.1966T>C (p.Leu656=) c.1942T>C (p.Leu648=) | |
13 | g.108209339A>T | CA388615276 | LIG4 | c.1729T>A (p.Leu577Ile) c.1930T>A (p.Leu644Ile) c.1966T>A (p.Leu656Ile) c.1942T>A (p.Leu648Ile) | |
13 | g.108209340G>A | CA484975385 | LIG4 | c.1728C>T (p.His576=) c.1929C>T (p.His643=) c.1965C>T (p.His655=) c.1941C>T (p.His647=) | |
13 | g.108209340G>C | CA388615279 | LIG4 | c.1728C>G (p.His576Gln) c.1929C>G (p.His643Gln) c.1965C>G (p.His655Gln) c.1941C>G (p.His647Gln) | gnomAD v4 |
13 | g.108209340G>T | CA388615282 | LIG4 | c.1728C>A (p.His576Gln) c.1929C>A (p.His643Gln) c.1965C>A (p.His655Gln) c.1941C>A (p.His647Gln) | |
13 | g.108209341del | CA2575452314 | LIG4 | c.1727del (p.His576ProfsTer2) c.1928del (p.His643ProfsTer2) c.1964del (p.His655ProfsTer2) c.1940del (p.His647ProfsTer2) | ClinVar gnomAD v4 |
13 | g.108209341T>A | CA388615285 | LIG4 | c.1727A>T (p.His576Leu) c.1928A>T (p.His643Leu) c.1964A>T (p.His655Leu) c.1940A>T (p.His647Leu) | gnomAD v4 |
13 | g.108209341T>C | CA7043585 | LIG4 | c.1727A>G (p.His576Arg) c.1928A>G (p.His643Arg) c.1964A>G (p.His655Arg) c.1940A>G (p.His647Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209341T>G | CA388615299 | LIG4 | c.1727A>C (p.His576Pro) c.1928A>C (p.His643Pro) c.1964A>C (p.His655Pro) c.1940A>C (p.His647Pro) | gnomAD v4 |
13 | g.108209341T= | CA2117794147 | LIG4 | c.1727A= (p.His576=) c.1928A= (p.His643=) c.1964A= (p.His655=) c.1940A= (p.His647=) | |
13 | g.108209342G>A | CA7043586 | LIG4 | c.1726C>T (p.His576Tyr) c.1927C>T (p.His643Tyr) c.1963C>T (p.His655Tyr) c.1939C>T (p.His647Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209342G>C | CA388615304 | LIG4 | c.1726C>G (p.His576Asp) c.1927C>G (p.His643Asp) c.1963C>G (p.His655Asp) c.1939C>G (p.His647Asp) | |
13 | g.108209342G= | CA2117794148 | LIG4 | c.1726C= (p.His576=) c.1927C= (p.His643=) c.1963C= (p.His655=) c.1939C= (p.His647=) | |
13 | g.108209342G>T | CA388615307 | LIG4 | c.1726C>A (p.His576Asn) c.1927C>A (p.His643Asn) c.1963C>A (p.His655Asn) c.1939C>A (p.His647Asn) | |
13 | g.108209343C>A | CA388615312 | LIG4 | c.1725G>T (p.Glu575Asp) c.1926G>T (p.Glu642Asp) c.1962G>T (p.Glu654Asp) c.1938G>T (p.Glu646Asp) | |
13 | g.108209343C>G | CA388615316 | LIG4 | c.1725G>C (p.Glu575Asp) c.1926G>C (p.Glu642Asp) c.1962G>C (p.Glu654Asp) c.1938G>C (p.Glu646Asp) | |
13 | g.108209343C>T | CA484975392 | LIG4 | c.1725G>A (p.Glu575=) c.1926G>A (p.Glu642=) c.1962G>A (p.Glu654=) c.1938G>A (p.Glu646=) | gnomAD v4 |
13 | g.108209344T>A | CA388615331 | LIG4 | c.1724A>T (p.Glu575Val) c.1925A>T (p.Glu642Val) c.1961A>T (p.Glu654Val) c.1937A>T (p.Glu646Val) | |
13 | g.108209344T>C | CA7043587 | LIG4 | c.1724A>G (p.Glu575Gly) c.1925A>G (p.Glu642Gly) c.1961A>G (p.Glu654Gly) c.1937A>G (p.Glu646Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209344T>G | CA388615324 | LIG4 | c.1724A>C (p.Glu575Ala) c.1925A>C (p.Glu642Ala) c.1961A>C (p.Glu654Ala) c.1937A>C (p.Glu646Ala) | |
13 | g.108209344T= | CA2117794149 | LIG4 | c.1724A= (p.Glu575=) c.1925A= (p.Glu642=) c.1961A= (p.Glu654=) c.1937A= (p.Glu646=) | |
13 | g.108209345C>A | CA388615332 | LIG4 | c.1723G>T (p.Glu575Ter) c.1924G>T (p.Glu642Ter) c.1960G>T (p.Glu654Ter) c.1936G>T (p.Glu646Ter) | gnomAD v4 |
13 | g.108209345C>G | CA388615336 | LIG4 | c.1723G>C (p.Glu575Gln) c.1924G>C (p.Glu642Gln) c.1960G>C (p.Glu654Gln) c.1936G>C (p.Glu646Gln) | |
13 | g.108209345C>T | CA388615339 | LIG4 | c.1723G>A (p.Glu575Lys) c.1924G>A (p.Glu642Lys) c.1960G>A (p.Glu654Lys) c.1936G>A (p.Glu646Lys) |