Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.99862364_99862498delinsTATTACAT | CA2697552540 | AGL | c.401_460+75delinsTATTACAT n.612_671+75delinsTATTACAT c.353_412+75delinsTATTACAT c.350_409+75delinsTATTACAT | ClinVar |
1 | g.99862399_99862400delinsAG | CA1183924524 | AGL | c.436_437delinsAG (p.Arg146=) n.647_648delinsAG c.388_389delinsAG (p.Arg130=) c.385_386delinsAG (p.Arg129=) | |
1 | g.99862400del | CA16040825 | AGL | c.437del (p.Arg146AsnfsTer12) n.648del c.389del (p.Arg130AsnfsTer12) c.386del (p.Arg129AsnfsTer12) | ClinVar dbSNP |
1 | g.99862400G>A | CA341332628 | AGL | c.437G>A (p.Arg146Lys) n.648G>A c.389G>A (p.Arg130Lys) c.386G>A (p.Arg129Lys) | |
1 | g.99862400G>C | CA341332632 | AGL | c.437G>C (p.Arg146Thr) n.648G>C c.389G>C (p.Arg130Thr) c.386G>C (p.Arg129Thr) | |
1 | g.99862400G>T | CA341332657 | AGL | c.437G>T (p.Arg146Ile) n.648G>T c.389G>T (p.Arg130Ile) c.386G>T (p.Arg129Ile) | ClinVar |
1 | g.99862401A= | CA1183924530 | AGL | c.438A= (p.Arg146=) n.649A= c.390A= (p.Arg130=) c.387A= (p.Arg129=) | |
1 | g.99862401A>C | CA341332679 | AGL | c.438A>C (p.Arg146Ser) n.649A>C c.390A>C (p.Arg130Ser) c.387A>C (p.Arg129Ser) | |
1 | g.99862401A>G | CA419095875 | AGL | c.438A>G (p.Arg146=) n.649A>G c.390A>G (p.Arg130=) c.387A>G (p.Arg129=) | |
1 | g.99862401A>T | CA341332681 | AGL | c.438A>T (p.Arg146Ser) n.649A>T c.390A>T (p.Arg130Ser) c.387A>T (p.Arg129Ser) | dbSNP |
1 | g.99862402C>A | CA341332684 | AGL | c.439C>A (p.Leu147Ile) n.650C>A c.391C>A (p.Leu131Ile) c.388C>A (p.Leu130Ile) | |
1 | g.99862402C= | CA1183924532 | AGL | c.439C= (p.Leu147=) n.650C= c.391C= (p.Leu131=) c.388C= (p.Leu130=) | |
1 | g.99862402C>G | CA341332694 | AGL | c.439C>G (p.Leu147Val) n.650C>G c.391C>G (p.Leu131Val) c.388C>G (p.Leu130Val) | |
1 | g.99862402C>T | CA341332701 | AGL | c.439C>T (p.Leu147Phe) n.650C>T c.391C>T (p.Leu131Phe) c.388C>T (p.Leu130Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.99862402_99862404delinsCTT | CA1183924534 | AGL | c.439_441delinsCTT (p.Leu147=) n.650_652delinsCTT c.391_393delinsCTT (p.Leu131=) c.388_390delinsCTT (p.Leu130=) | |
1 | g.99862403T>A | CA341332707 | AGL | c.440T>A (p.Leu147His) n.651T>A c.392T>A (p.Leu131His) c.389T>A (p.Leu130His) | |
1 | g.99862403T>C | CA341332714 | AGL | c.440T>C (p.Leu147Pro) n.651T>C c.392T>C (p.Leu131Pro) c.389T>C (p.Leu130Pro) | |
1 | g.99862403T>G | CA341332717 | AGL | c.440T>G (p.Leu147Arg) n.651T>G c.392T>G (p.Leu131Arg) c.389T>G (p.Leu130Arg) | |
1 | g.99862403_99862404del | CA524878375 | AGL | c.440_441del (p.Leu147GlnfsTer23) n.651_652del c.392_393del (p.Leu131GlnfsTer23) c.389_390del (p.Leu130GlnfsTer23) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99862404T>A | CA419095877 | AGL | c.441T>A (p.Leu147=) n.652T>A c.393T>A (p.Leu131=) c.390T>A (p.Leu130=) | |
1 | g.99862404T>C | CA419095878 | AGL | c.441T>C (p.Leu147=) n.652T>C c.393T>C (p.Leu131=) c.390T>C (p.Leu130=) | |
1 | g.99862404T>G | CA419095879 | AGL | c.441T>G (p.Leu147=) n.652T>G c.393T>G (p.Leu131=) c.390T>G (p.Leu130=) | gnomAD v4 |
1 | g.99862404_99862405delinsTA | CA1183924542 | AGL | c.441_442delinsTA (p.Leu147=) n.652_653delinsTA c.393_394delinsTA (p.Leu131=) c.390_391delinsTA (p.Leu130=) | |
1 | g.99862405del | CA16040826 | AGL | c.442del (p.Arg148GlyfsTer10) n.653del c.394del (p.Arg132GlyfsTer10) c.391del (p.Arg131GlyfsTer10) | ClinVar dbSNP |
1 | g.99862405A= | CA1147819699 | AGL | c.442A= (p.Arg148=) n.653A= c.394A= (p.Arg132=) c.391A= (p.Arg131=) | |
1 | g.99862405A>C | CA419095880 | AGL | c.442A>C (p.Arg148=) n.653A>C c.394A>C (p.Arg132=) c.391A>C (p.Arg131=) | |
1 | g.99862405A>G | CA966161 | AGL | c.442A>G (p.Arg148Gly) n.653A>G c.394A>G (p.Arg132Gly) c.391A>G (p.Arg131Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862405A>T | CA341332742 | AGL | c.442A>T (p.Arg148Trp) n.653A>T c.394A>T (p.Arg132Trp) c.391A>T (p.Arg131Trp) | |
1 | g.99862406G>A | CA966162 | AGL | c.443G>A (p.Arg148Lys) n.654G>A c.395G>A (p.Arg132Lys) c.392G>A (p.Arg131Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99862406G>C | CA341332763 | AGL | c.443G>C (p.Arg148Thr) n.654G>C c.395G>C (p.Arg132Thr) c.392G>C (p.Arg131Thr) | |
1 | g.99862406G= | CA1145426729 | AGL | c.443G= (p.Arg148=) n.654G= c.395G= (p.Arg132=) c.392G= (p.Arg131=) | |
1 | g.99862406G>T | CA341332760 | AGL | c.443G>T (p.Arg148Met) n.654G>T c.395G>T (p.Arg132Met) c.392G>T (p.Arg131Met) | |
1 | g.99862407G>A | CA419095881 | AGL | c.444G>A (p.Arg148=) n.655G>A c.396G>A (p.Arg132=) c.393G>A (p.Arg131=) | |
1 | g.99862407G>C | CA341332767 | AGL | c.444G>C (p.Arg148Ser) n.655G>C c.396G>C (p.Arg132Ser) c.393G>C (p.Arg131Ser) | gnomAD v4 |
1 | g.99862407G>T | CA341332768 | AGL | c.444G>T (p.Arg148Ser) n.655G>T c.396G>T (p.Arg132Ser) c.393G>T (p.Arg131Ser) | gnomAD v4 |
1 | g.99862408G>A | CA341332780 | AGL | c.445G>A (p.Val149Ile) n.656G>A c.397G>A (p.Val133Ile) c.394G>A (p.Val132Ile) | gnomAD v4 |
1 | g.99862408G>C | CA341332786 | AGL | c.445G>C (p.Val149Leu) n.656G>C c.397G>C (p.Val133Leu) c.394G>C (p.Val132Leu) | |
1 | g.99862408G>T | CA341332787 | AGL | c.445G>T (p.Val149Phe) n.656G>T c.397G>T (p.Val133Phe) c.394G>T (p.Val132Phe) | |
1 | g.99862409T>A | CA341332791 | AGL | c.446T>A (p.Val149Asp) n.657T>A c.398T>A (p.Val133Asp) c.395T>A (p.Val132Asp) | |
1 | g.99862409T>C | CA966163 | AGL | c.446T>C (p.Val149Ala) n.657T>C c.398T>C (p.Val133Ala) c.395T>C (p.Val132Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99862409T>G | CA341332808 | AGL | c.446T>G (p.Val149Gly) n.657T>G c.398T>G (p.Val133Gly) c.395T>G (p.Val132Gly) | |
1 | g.99862409T= | CA1183924561 | AGL | c.446T= (p.Val149=) n.657T= c.398T= (p.Val133=) c.395T= (p.Val132=) | |
1 | g.99862410T>A | CA419095882 | AGL | c.447T>A (p.Val149=) n.658T>A c.399T>A (p.Val133=) c.396T>A (p.Val132=) | |
1 | g.99862410T>C | CA419095883 | AGL | c.447T>C (p.Val149=) n.658T>C c.399T>C (p.Val133=) c.396T>C (p.Val132=) | |
1 | g.99862410T>G | CA419095884 | AGL | c.447T>G (p.Val149=) n.658T>G c.399T>G (p.Val133=) c.396T>G (p.Val132=) | |
1 | g.99862411G>A | CA341332809 | AGL | c.448G>A (p.Ala150Thr) n.659G>A c.400G>A (p.Ala134Thr) c.397G>A (p.Ala133Thr) | |
1 | g.99862411G>C | CA341332817 | AGL | c.448G>C (p.Ala150Pro) n.659G>C c.400G>C (p.Ala134Pro) c.397G>C (p.Ala133Pro) | |
1 | g.99862411G>T | CA341332826 | AGL | c.448G>T (p.Ala150Ser) n.659G>T c.400G>T (p.Ala134Ser) c.397G>T (p.Ala133Ser) | |
1 | g.99862412C>A | CA341332848 | AGL | c.449C>A (p.Ala150Glu) n.660C>A c.401C>A (p.Ala134Glu) c.398C>A (p.Ala133Glu) | |
1 | g.99862412C>G | CA341332835 | AGL | c.449C>G (p.Ala150Gly) n.660C>G c.401C>G (p.Ala134Gly) c.398C>G (p.Ala133Gly) |