Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209623965_209623966delinsAG | CA2484298451 | LAMB3 | c.2011_2012delinsCT (p.Leu671=) c.1819_1820delinsCT (p.Leu607=) | |
1 | g.209623966G>A | CA423142491 | LAMB3 | c.2011C>T (p.Leu671=) c.1819C>T (p.Leu607=) | gnomAD v4 |
1 | g.209623966G>C | CA344588932 | LAMB3 | c.2011C>G (p.Leu671Val) c.1819C>G (p.Leu607Val) | |
1 | g.209623966G>T | CA344588933 | LAMB3 | c.2011C>A (p.Leu671Met) c.1819C>A (p.Leu607Met) | |
1 | g.209623969del | CA16040693 | LAMB3 | c.2011del (p.Leu671TrpfsTer?) c.1819del (p.Leu607TrpfsTer?) | ClinVar dbSNP |
1 | g.209623967G>A | CA423142494 | LAMB3 | c.2010C>T (p.Pro670=) c.1818C>T (p.Pro606=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.209623967G>C | CA423142492 | LAMB3 | c.2010C>G (p.Pro670=) c.1818C>G (p.Pro606=) | |
1 | g.209623967G= | CA2484298453 | LAMB3 | c.2010C= (p.Pro670=) c.1818C= (p.Pro606=) | |
1 | g.209623967G>T | CA423142493 | LAMB3 | c.2010C>A (p.Pro670=) c.1818C>A (p.Pro606=) | |
1 | g.209623968G>A | CA344588934 | LAMB3 | c.2009C>T (p.Pro670Leu) c.1817C>T (p.Pro606Leu) | |
1 | g.209623968G>C | CA344588935 | LAMB3 | c.2009C>G (p.Pro670Arg) c.1817C>G (p.Pro606Arg) | |
1 | g.209623968G>T | CA344588936 | LAMB3 | c.2009C>A (p.Pro670His) c.1817C>A (p.Pro606His) | |
1 | g.209623969G>A | CA344588937 | LAMB3 | c.2008C>T (p.Pro670Ser) c.1816C>T (p.Pro606Ser) | |
1 | g.209623969G>C | CA344588938 | LAMB3 | c.2008C>G (p.Pro670Ala) c.1816C>G (p.Pro606Ala) | |
1 | g.209623969G= | CA2484298454 | LAMB3 | c.2008C= (p.Pro670=) c.1816C= (p.Pro606=) | |
1 | g.209623969G>T | CA344588939 | LAMB3 | c.2008C>A (p.Pro670Thr) c.1816C>A (p.Pro606Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209623970C>A | CA423142503 | LAMB3 | c.2007G>T (p.Leu669=) c.1815G>T (p.Leu605=) | |
1 | g.209623970C= | CA2484298455 | LAMB3 | c.2007G= (p.Leu669=) c.1815G= (p.Leu605=) | |
1 | g.209623970C>G | CA423142504 | LAMB3 | c.2007G>C (p.Leu669=) c.1815G>C (p.Leu605=) | |
1 | g.209623970C>T | CA423142505 | LAMB3 | c.2007G>A (p.Leu669=) c.1815G>A (p.Leu605=) | dbSNP gnomAD v4 |
1 | g.209623971A= | CA1139989112 | LAMB3 | c.2006T= (p.Leu669=) c.1814T= (p.Leu605=) | |
1 | g.209623971A>C | CA344588940 | LAMB3 | c.2006T>G (p.Leu669Arg) c.1814T>G (p.Leu605Arg) | |
1 | g.209623971A>G | CA344588941 | LAMB3 | c.2006T>C (p.Leu669Pro) c.1814T>C (p.Leu605Pro) | |
1 | g.209623971A>T | CA36752917 | LAMB3 | c.2006T>A (p.Leu669Gln) c.1814T>A (p.Leu605Gln) | dbSNP |
1 | g.209623972G>A | CA423142509 | LAMB3 | c.2005C>T (p.Leu669=) c.1813C>T (p.Leu605=) | ClinVar dbSNP gnomAD v4 |
1 | g.209623972G>C | CA344588943 | LAMB3 | c.2005C>G (p.Leu669Val) c.1813C>G (p.Leu605Val) | |
1 | g.209623972G= | CA2484298456 | LAMB3 | c.2005C= (p.Leu669=) c.1813C= (p.Leu605=) | |
1 | g.209623972G>T | CA344588942 | LAMB3 | c.2005C>A (p.Leu669Met) c.1813C>A (p.Leu605Met) | |
1 | g.209623973A>C | CA344588944 | LAMB3 | c.2004T>G (p.Asp668Glu) c.1812T>G (p.Asp604Glu) | |
1 | g.209623973A>G | CA423142512 | LAMB3 | c.2004T>C (p.Asp668=) c.1812T>C (p.Asp604=) | |
1 | g.209623973A>T | CA344588945 | LAMB3 | c.2004T>A (p.Asp668Glu) c.1812T>A (p.Asp604Glu) | |
1 | g.209623974T>A | CA344588946 | LAMB3 | c.2003A>T (p.Asp668Val) c.1811A>T (p.Asp604Val) | |
1 | g.209623974T>C | CA344588947 | LAMB3 | c.2003A>G (p.Asp668Gly) c.1811A>G (p.Asp604Gly) | |
1 | g.209623974T>G | CA344588948 | LAMB3 | c.2003A>C (p.Asp668Ala) c.1811A>C (p.Asp604Ala) | |
1 | g.209623975C>A | CA344588949 | LAMB3 | c.2002G>T (p.Asp668Tyr) c.1810G>T (p.Asp604Tyr) | |
1 | g.209623975C= | CA2484298457 | LAMB3 | c.2002G= (p.Asp668=) c.1810G= (p.Asp604=) | |
1 | g.209623975C>G | CA344588950 | LAMB3 | c.2002G>C (p.Asp668His) c.1810G>C (p.Asp604His) | |
1 | g.209623975C>T | CA344588951 | LAMB3 | c.2002G>A (p.Asp668Asn) c.1810G>A (p.Asp604Asn) | dbSNP gnomAD v4 |
1 | g.209623976C>A | CA423142518 | LAMB3 | c.2001G>T (p.Leu667=) c.1809G>T (p.Leu603=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209623976C= | CA2484298458 | LAMB3 | c.2001G= (p.Leu667=) c.1809G= (p.Leu603=) | |
1 | g.209623976C>G | CA423142520 | LAMB3 | c.2001G>C (p.Leu667=) c.1809G>C (p.Leu603=) | |
1 | g.209623976C>T | CA423142521 | LAMB3 | c.2001G>A (p.Leu667=) c.1809G>A (p.Leu603=) | gnomAD v4 |
1 | g.209623977A>C | CA344588952 | LAMB3 | c.2000T>G (p.Leu667Arg) c.1808T>G (p.Leu603Arg) | |
1 | g.209623977A>G | CA344588953 | LAMB3 | c.2000T>C (p.Leu667Pro) c.1808T>C (p.Leu603Pro) | |
1 | g.209623977A>T | CA344588954 | LAMB3 | c.2000T>A (p.Leu667Gln) c.1808T>A (p.Leu603Gln) | |
1 | g.209623978G>A | CA423142526 | LAMB3 | c.1999C>T (p.Leu667=) c.1807C>T (p.Leu603=) | |
1 | g.209623978G>C | CA344588955 | LAMB3 | c.1999C>G (p.Leu667Val) c.1807C>G (p.Leu603Val) | |
1 | g.209623978G>T | CA344588956 | LAMB3 | c.1999C>A (p.Leu667Met) c.1807C>A (p.Leu603Met) | |
1 | g.209623979C>A | CA344588957 | LAMB3 | c.1998G>T (p.Gln666His) c.1806G>T (p.Gln602His) | |
1 | g.209623979C>G | CA344588958 | LAMB3 | c.1998G>C (p.Gln666His) c.1806G>C (p.Gln602His) |