Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21575823_21575826dupCA16040722ALPLc.1088_1091dup (p.Ser364ArgfsTer?)
n.357_360dup
c.163_166dup
c.857_860dup (p.Ser287ArgfsTer?)
c.923_926dup (p.Ser309ArgfsTer?)
c.932_935dup (p.Ser312ArgfsTer?)
 ClinVar dbSNP
1g.21575823G>ACA338881206ALPLc.1088G>A (p.Gly363Asp)
n.357G>A
c.163G>A
c.857G>A (p.Gly286Asp)
c.923G>A (p.Gly308Asp)
c.932G>A (p.Gly311Asp)
1g.21575823G>CCA338881207ALPLc.1088G>C (p.Gly363Ala)
n.357G>C
c.163G>C
c.857G>C (p.Gly286Ala)
c.923G>C (p.Gly308Ala)
c.932G>C (p.Gly311Ala)
1g.21575823G>TCA338881208ALPLc.1088G>T (p.Gly363Val)
n.357G>T
c.163G>T
c.857G>T (p.Gly286Val)
c.923G>T (p.Gly308Val)
c.932G>T (p.Gly311Val)
1g.21575824C>ACA416533149ALPLc.1089C>A (p.Gly363=)
n.358C>A
c.164C>A
c.858C>A (p.Gly286=)
c.924C>A (p.Gly308=)
c.933C>A (p.Gly311=)
 COSMIC
1g.21575824C>GCA416533152ALPLc.1089C>G (p.Gly363=)
n.358C>G
c.164C>G
c.858C>G (p.Gly286=)
c.924C>G (p.Gly308=)
c.933C>G (p.Gly311=)
1g.21575824C>TCA416533153ALPLc.1089C>T (p.Gly363=)
n.358C>T
c.164C>T
c.858C>T (p.Gly286=)
c.924C>T (p.Gly308=)
c.933C>T (p.Gly311=)
 ClinVar
1g.21575825A>CCA338881209ALPLc.1090A>C (p.Ser364Arg)
n.359A>C
c.165A>C
c.859A>C (p.Ser287Arg)
c.925A>C (p.Ser309Arg)
c.934A>C (p.Ser312Arg)
1g.21575825A>GCA338881210ALPLc.1090A>G (p.Ser364Gly)
n.359A>G
c.165A>G
c.859A>G (p.Ser287Gly)
c.925A>G (p.Ser309Gly)
c.934A>G (p.Ser312Gly)
1g.21575825A>TCA338881211ALPLc.1090A>T (p.Ser364Cys)
n.359A>T
c.165A>T
c.859A>T (p.Ser287Cys)
c.925A>T (p.Ser309Cys)
c.934A>T (p.Ser312Cys)
1g.21575826G>ACA338881212ALPLc.1091G>A (p.Ser364Asn)
n.360G>A
c.166G>A
c.860G>A (p.Ser287Asn)
c.926G>A (p.Ser309Asn)
c.935G>A (p.Ser312Asn)
1g.21575826G>CCA338881213ALPLc.1091G>C (p.Ser364Thr)
n.360G>C
c.166G>C
c.860G>C (p.Ser287Thr)
c.926G>C (p.Ser309Thr)
c.935G>C (p.Ser312Thr)
1g.21575826G>TCA338881214ALPLc.1091G>T (p.Ser364Ile)
n.360G>T
c.166G>T
c.860G>T (p.Ser287Ile)
c.926G>T (p.Ser309Ile)
c.935G>T (p.Ser312Ile)
1g.21575827C>ACA338881215ALPLc.1092C>A (p.Ser364Arg)
n.361C>A
c.167C>A
c.861C>A (p.Ser287Arg)
c.927C>A (p.Ser309Arg)
c.936C>A (p.Ser312Arg)
1g.21575827C=CA1158019311ALPLc.1092C= (p.Ser364=)
n.361C=
c.167C=
c.861C= (p.Ser287=)
c.927C= (p.Ser309=)
c.936C= (p.Ser312=)
1g.21575827C>GCA338881216ALPLc.1092C>G (p.Ser364Arg)
n.361C>G
c.167C>G
c.861C>G (p.Ser287Arg)
c.927C>G (p.Ser309Arg)
c.936C>G (p.Ser312Arg)
1g.21575827C>TCA416533168ALPLc.1092C>T (p.Ser364=)
n.361C>T
c.167C>T
c.861C>T (p.Ser287=)
c.927C>T (p.Ser309=)
c.936C>T (p.Ser312=)
 ClinVar dbSNP gnomAD v4
1g.21575828T>ACA338881218ALPLc.1093T>A (p.Leu365Met)
n.362T>A
c.168T>A
c.862T>A (p.Leu288Met)
c.928T>A (p.Leu310Met)
c.937T>A (p.Leu313Met)
1g.21575828T>CCA416533173ALPLc.1093T>C (p.Leu365=)
n.362T>C
c.168T>C
c.862T>C (p.Leu288=)
c.928T>C (p.Leu310=)
c.937T>C (p.Leu313=)
 dbSNP
1g.21575828T>GCA338881217ALPLc.1093T>G (p.Leu365Val)
n.362T>G
c.168T>G
c.862T>G (p.Leu288Val)
c.928T>G (p.Leu310Val)
c.937T>G (p.Leu313Val)
1g.21575829T>ACA338881219ALPLc.1094T>A (p.Leu365Ter)
n.363T>A
c.169T>A
c.863T>A (p.Leu288Ter)
c.929T>A (p.Leu310Ter)
c.938T>A (p.Leu313Ter)
1g.21575829T>CCA338881221ALPLc.1094T>C (p.Leu365Ser)
n.363T>C
c.169T>C
c.863T>C (p.Leu288Ser)
c.929T>C (p.Leu310Ser)
c.938T>C (p.Leu313Ser)
1g.21575829T>GCA338881220ALPLc.1094T>G (p.Leu365Trp)
n.363T>G
c.169T>G
c.863T>G (p.Leu288Trp)
c.929T>G (p.Leu310Trp)
c.938T>G (p.Leu313Trp)
 ClinVar dbSNP
1g.21575830G>ACA416533175ALPLc.1095G>A (p.Leu365=)
n.364G>A
c.170G>A
c.864G>A (p.Leu288=)
c.930G>A (p.Leu310=)
c.939G>A (p.Leu313=)
1g.21575830G>CCA338881222ALPLc.1095G>C (p.Leu365Phe)
n.364G>C
c.170G>C
c.864G>C (p.Leu288Phe)
c.930G>C (p.Leu310Phe)
c.939G>C (p.Leu313Phe)
1g.21575830G>TCA338881223ALPLc.1095G>T (p.Leu365Phe)
n.364G>T
c.170G>T
c.864G>T (p.Leu288Phe)
c.930G>T (p.Leu310Phe)
c.939G>T (p.Leu313Phe)
1g.21575831A>CCA338881224ALPLc.1096A>C (p.Thr366Pro)
n.365A>C
c.171A>C
c.865A>C (p.Thr289Pro)
c.931A>C (p.Thr311Pro)
c.940A>C (p.Thr314Pro)
1g.21575831A>GCA338881225ALPLc.1096A>G (p.Thr366Ala)
n.365A>G
c.171A>G
c.865A>G (p.Thr289Ala)
c.931A>G (p.Thr311Ala)
c.940A>G (p.Thr314Ala)
1g.21575831A>TCA338881226ALPLc.1096A>T (p.Thr366Ser)
n.365A>T
c.171A>T
c.865A>T (p.Thr289Ser)
c.931A>T (p.Thr311Ser)
c.940A>T (p.Thr314Ser)
1g.21575831_21575834delinsACCTCA1158019312ALPLc.1096_1099delinsACCT (p.Thr366=)
n.365_368delinsACCT
c.171_174delinsACCT
c.865_868delinsACCT (p.Thr289=)
c.931_934delinsACCT (p.Thr311=)
c.940_943delinsACCT (p.Thr314=)
1g.21575832C>ACA338881227ALPLc.1097C>A (p.Thr366Asn)
n.366C>A
c.172C>A
c.866C>A (p.Thr289Asn)
c.932C>A (p.Thr311Asn)
c.941C>A (p.Thr314Asn)
1g.21575832C>GCA338881228ALPLc.1097C>G (p.Thr366Ser)
n.366C>G
c.172C>G
c.866C>G (p.Thr289Ser)
c.932C>G (p.Thr311Ser)
c.941C>G (p.Thr314Ser)
1g.21575832C>TCA338881229ALPLc.1097C>T (p.Thr366Ile)
n.366C>T
c.172C>T
c.866C>T (p.Thr289Ile)
c.932C>T (p.Thr311Ile)
c.941C>T (p.Thr314Ile)
 ClinVar gnomAD v4
1g.21575836_21575838delCA891842433ALPLc.1101_1103del (p.Ser368del)
n.370_372del
c.176_178del
c.870_872del (p.Ser291del)
c.936_938del (p.Ser313del)
c.945_947del (p.Ser316del)
 ClinVar dbSNP gnomAD v4
1g.21575833C>ACA416533191ALPLc.1098C>A (p.Thr366=)
n.367C>A
c.173C>A
c.867C>A (p.Thr289=)
c.933C>A (p.Thr311=)
c.942C>A (p.Thr314=)
1g.21575833C=CA1158019313ALPLc.1098C= (p.Thr366=)
n.367C=
c.173C=
c.867C= (p.Thr289=)
c.933C= (p.Thr311=)
c.942C= (p.Thr314=)
1g.21575833C>GCA416533187ALPLc.1098C>G (p.Thr366=)
n.367C>G
c.173C>G
c.867C>G (p.Thr289=)
c.933C>G (p.Thr311=)
c.942C>G (p.Thr314=)
 ClinVar dbSNP COSMIC
1g.21575833C>TCA416533189ALPLc.1098C>T (p.Thr366=)
n.367C>T
c.173C>T
c.867C>T (p.Thr289=)
c.933C>T (p.Thr311=)
c.942C>T (p.Thr314=)
 dbSNP gnomAD v2 gnomAD v4
1g.21575834T>ACA338881230ALPLc.1099T>A (p.Ser367Thr)
n.368T>A
c.174T>A
c.868T>A (p.Ser290Thr)
c.934T>A (p.Ser312Thr)
c.943T>A (p.Ser315Thr)
 ClinVar
1g.21575834T>CCA338881231ALPLc.1099T>C (p.Ser367Pro)
n.368T>C
c.174T>C
c.868T>C (p.Ser290Pro)
c.934T>C (p.Ser312Pro)
c.943T>C (p.Ser315Pro)
1g.21575834T>GCA338881232ALPLc.1099T>G (p.Ser367Ala)
n.368T>G
c.174T>G
c.868T>G (p.Ser290Ala)
c.934T>G (p.Ser312Ala)
c.943T>G (p.Ser315Ala)
1g.21575835C>ACA338881235ALPLc.1100C>A (p.Ser367Tyr)
n.369C>A
c.175C>A
c.869C>A (p.Ser290Tyr)
c.935C>A (p.Ser312Tyr)
c.944C>A (p.Ser315Tyr)
1g.21575835C=CA1158019314ALPLc.1100C= (p.Ser367=)
n.369C=
c.175C=
c.869C= (p.Ser290=)
c.935C= (p.Ser312=)
c.944C= (p.Ser315=)
1g.21575835C>GCA338881233ALPLc.1100C>G (p.Ser367Cys)
n.369C>G
c.175C>G
c.869C>G (p.Ser290Cys)
c.935C>G (p.Ser312Cys)
c.944C>G (p.Ser315Cys)
1g.21575835C>TCA338881234ALPLc.1100C>T (p.Ser367Phe)
n.369C>T
c.175C>T
c.869C>T (p.Ser290Phe)
c.935C>T (p.Ser312Phe)
c.944C>T (p.Ser315Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21575836C>ACA416533200ALPLc.1101C>A (p.Ser367=)
n.370C>A
c.176C>A
c.870C>A (p.Ser290=)
c.936C>A (p.Ser312=)
c.945C>A (p.Ser315=)
 COSMIC
1g.21575836C=CA1158019315ALPLc.1101C= (p.Ser367=)
n.370C=
c.176C=
c.870C= (p.Ser290=)
c.936C= (p.Ser312=)
c.945C= (p.Ser315=)
1g.21575836C>GCA416533203ALPLc.1101C>G (p.Ser367=)
n.370C>G
c.176C>G
c.870C>G (p.Ser290=)
c.936C>G (p.Ser312=)
c.945C>G (p.Ser315=)
1g.21575836C>TCA666731ALPLc.1101C>T (p.Ser367=)
n.370C>T
c.176C>T
c.870C>T (p.Ser290=)
c.936C>T (p.Ser312=)
c.945C>T (p.Ser315=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575837T>ACA338881236ALPLc.1102T>A (p.Ser368Thr)
n.371T>A
c.177T>A
c.871T>A (p.Ser291Thr)
c.937T>A (p.Ser313Thr)
c.946T>A (p.Ser316Thr)
1g.21575837T>CCA338881237ALPLc.1102T>C (p.Ser368Pro)
n.371T>C
c.177T>C
c.871T>C (p.Ser291Pro)
c.937T>C (p.Ser313Pro)
c.946T>C (p.Ser316Pro)
1g.21575837T>GCA338881238ALPLc.1102T>G (p.Ser368Ala)
n.371T>G
c.177T>G
c.871T>G (p.Ser291Ala)
c.937T>G (p.Ser313Ala)
c.946T>G (p.Ser316Ala)
1g.21575838C>ACA338881239ALPLc.1103C>A (p.Ser368Ter)
n.372C>A
c.178C>A
c.872C>A (p.Ser291Ter)
c.938C>A (p.Ser313Ter)
c.947C>A (p.Ser316Ter)
1g.21575838C=CA1143621752ALPLc.1103C= (p.Ser368=)
n.372C=
c.178C=
c.872C= (p.Ser291=)
c.938C= (p.Ser313=)
c.947C= (p.Ser316=)
1g.21575838C>GCA338881241ALPLc.1103C>G (p.Ser368Trp)
n.372C>G
c.178C>G
c.872C>G (p.Ser291Trp)
c.938C>G (p.Ser313Trp)
c.947C>G (p.Ser316Trp)
 dbSNP gnomAD v2 gnomAD v4
1g.21575838C>TCA666732ALPLc.1103C>T (p.Ser368Leu)
n.372C>T
c.178C>T
c.872C>T (p.Ser291Leu)
c.938C>T (p.Ser313Leu)
c.947C>T (p.Ser316Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575839G>ACA416533214ALPLc.1104G>A (p.Ser368=)
n.373G>A
c.179G>A
c.873G>A (p.Ser291=)
c.939G>A (p.Ser313=)
c.948G>A (p.Ser316=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21575839G>CCA416533220ALPLc.1104G>C (p.Ser368=)
n.373G>C
c.179G>C
c.873G>C (p.Ser291=)
c.939G>C (p.Ser313=)
c.948G>C (p.Ser316=)
1g.21575839G=CA1158019316ALPLc.1104G= (p.Ser368=)
n.373G=
c.179G=
c.873G= (p.Ser291=)
c.939G= (p.Ser313=)
c.948G= (p.Ser316=)
1g.21575839G>TCA416533211ALPLc.1104G>T (p.Ser368=)
n.373G>T
c.179G>T
c.873G>T (p.Ser291=)
c.939G>T (p.Ser313=)
c.948G>T (p.Ser316=)
 ClinVar
1g.21575840G>ACA338881244ALPLc.1105G>A (p.Glu369Lys)
n.374G>A
c.180G>A
c.874G>A (p.Glu292Lys)
c.940G>A (p.Glu314Lys)
c.949G>A (p.Glu317Lys)
1g.21575840G>CCA338881245ALPLc.1105G>C (p.Glu369Gln)
n.374G>C
c.180G>C
c.874G>C (p.Glu292Gln)
c.940G>C (p.Glu314Gln)
c.949G>C (p.Glu317Gln)
1g.21575840G>TCA338881247ALPLc.1105G>T (p.Glu369Ter)
n.374G>T
c.180G>T
c.874G>T (p.Glu292Ter)
c.940G>T (p.Glu314Ter)
c.949G>T (p.Glu317Ter)
1g.21575841A>CCA338881251ALPLc.1106A>C (p.Glu369Ala)
n.375A>C
c.181A>C
c.875A>C (p.Glu292Ala)
c.941A>C (p.Glu314Ala)
c.950A>C (p.Glu317Ala)
1g.21575841A>GCA338881252ALPLc.1106A>G (p.Glu369Gly)
n.375A>G
c.181A>G
c.875A>G (p.Glu292Gly)
c.941A>G (p.Glu314Gly)
c.950A>G (p.Glu317Gly)
1g.21575841A>TCA338881249ALPLc.1106A>T (p.Glu369Val)
n.375A>T
c.181A>T
c.875A>T (p.Glu292Val)
c.941A>T (p.Glu314Val)
c.950A>T (p.Glu317Val)
1g.21575842A>CCA338881254ALPLc.1107A>C (p.Glu369Asp)
n.376A>C
c.182A>C
c.876A>C (p.Glu292Asp)
c.942A>C (p.Glu314Asp)
c.951A>C (p.Glu317Asp)
1g.21575842A>GCA416533228ALPLc.1107A>G (p.Glu369=)
n.376A>G
c.182A>G
c.876A>G (p.Glu292=)
c.942A>G (p.Glu314=)
c.951A>G (p.Glu317=)
1g.21575842A>TCA338881256ALPLc.1107A>T (p.Glu369Asp)
n.376A>T
c.182A>T
c.876A>T (p.Glu292Asp)
c.942A>T (p.Glu314Asp)
c.951A>T (p.Glu317Asp)
1g.21575843G>ACA338881258ALPLc.1108G>A (p.Asp370Asn)
n.377G>A
c.183G>A
c.877G>A (p.Asp293Asn)
c.943G>A (p.Asp315Asn)
c.952G>A (p.Asp318Asn)
1g.21575843G>CCA338881259ALPLc.1108G>C (p.Asp370His)
n.377G>C
c.183G>C
c.877G>C (p.Asp293His)
c.943G>C (p.Asp315His)
c.952G>C (p.Asp318His)
1g.21575843G>TCA338881260ALPLc.1108G>T (p.Asp370Tyr)
n.377G>T
c.183G>T
c.877G>T (p.Asp293Tyr)
c.943G>T (p.Asp315Tyr)
c.952G>T (p.Asp318Tyr)
1g.21575844A>CCA338881263ALPLc.1109A>C (p.Asp370Ala)
n.378A>C
c.184A>C
c.878A>C (p.Asp293Ala)
c.944A>C (p.Asp315Ala)
c.953A>C (p.Asp318Ala)
1g.21575844A>GCA338881264ALPLc.1109A>G (p.Asp370Gly)
n.378A>G
c.184A>G
c.878A>G (p.Asp293Gly)
c.944A>G (p.Asp315Gly)
c.953A>G (p.Asp318Gly)
1g.21575844A>TCA338881266ALPLc.1109A>T (p.Asp370Val)
n.378A>T
c.184A>T
c.878A>T (p.Asp293Val)
c.944A>T (p.Asp315Val)
c.953A>T (p.Asp318Val)
1g.21575845C>ACA338881268ALPLc.1110C>A (p.Asp370Glu)
n.379C>A
c.185C>A
c.879C>A (p.Asp293Glu)
c.945C>A (p.Asp315Glu)
c.954C>A (p.Asp318Glu)
1g.21575845C>GCA338881270ALPLc.1110C>G (p.Asp370Glu)
n.379C>G
c.185C>G
c.879C>G (p.Asp293Glu)
c.945C>G (p.Asp315Glu)
c.954C>G (p.Asp318Glu)
1g.21575845C>TCA416533243ALPLc.1110C>T (p.Asp370=)
n.379C>T
c.185C>T
c.879C>T (p.Asp293=)
c.945C>T (p.Asp315=)
c.954C>T (p.Asp318=)
 ClinVar dbSNP gnomAD v4
1g.21575846A=CA1158019318ALPLc.1111A= (p.Thr371=)
n.380A=
c.186A=
c.880A= (p.Thr294=)
c.946A= (p.Thr316=)
c.955A= (p.Thr319=)
1g.21575846A>CCA338881271ALPLc.1111A>C (p.Thr371Pro)
n.380A>C
c.186A>C
c.880A>C (p.Thr294Pro)
c.946A>C (p.Thr316Pro)
c.955A>C (p.Thr319Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.21575846A>GCA338881273ALPLc.1111A>G (p.Thr371Ala)
n.380A>G
c.186A>G
c.880A>G (p.Thr294Ala)
c.946A>G (p.Thr316Ala)
c.955A>G (p.Thr319Ala)
1g.21575846A>TCA338881275ALPLc.1111A>T (p.Thr371Ser)
n.380A>T
c.186A>T
c.880A>T (p.Thr294Ser)
c.946A>T (p.Thr316Ser)
c.955A>T (p.Thr319Ser)
1g.21575846_21575848delCA913072855ALPLc.1111_1113del (p.Thr371del)
n.380_382del
c.186_188del
c.880_882del (p.Thr294del)
c.946_948del (p.Thr316del)
c.955_957del (p.Thr319del)
1g.21575846_21575848delinsACTCA1158019317ALPLc.1111_1113delinsACT (p.Thr371=)
n.380_382delinsACT
c.186_188delinsACT
c.880_882delinsACT (p.Thr294=)
c.946_948delinsACT (p.Thr316=)
c.955_957delinsACT (p.Thr319=)
1g.21575847C>ACA338881279ALPLc.1112C>A (p.Thr371Asn)
n.381C>A
c.187C>A
c.881C>A (p.Thr294Asn)
c.947C>A (p.Thr316Asn)
c.956C>A (p.Thr319Asn)
1g.21575847C=CA1158019319ALPLc.1112C= (p.Thr371=)
n.381C=
c.187C=
c.881C= (p.Thr294=)
c.947C= (p.Thr316=)
c.956C= (p.Thr319=)
1g.21575847C>GCA338881277ALPLc.1112C>G (p.Thr371Ser)
n.381C>G
c.187C>G
c.881C>G (p.Thr294Ser)
c.947C>G (p.Thr316Ser)
c.956C>G (p.Thr319Ser)
1g.21575847C>TCA666733ALPLc.1112C>T (p.Thr371Ile)
n.381C>T
c.187C>T
c.881C>T (p.Thr294Ile)
c.947C>T (p.Thr316Ile)
c.956C>T (p.Thr319Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21575849_21575850delCA658820991ALPLc.1114_1115del (p.Leu372AspfsTer?)
n.383_384del
c.189_190del
c.883_884del (p.Leu295AspfsTer?)
c.949_950del (p.Leu317AspfsTer?)
c.958_959del (p.Leu320AspfsTer?)
 ClinVar dbSNP gnomAD v4
1g.21575848T>ACA416533254ALPLc.1113T>A (p.Thr371=)
n.382T>A
c.188T>A
c.882T>A (p.Thr294=)
c.948T>A (p.Thr316=)
c.957T>A (p.Thr319=)
 ClinVar
1g.21575848T>CCA416533256ALPLc.1113T>C (p.Thr371=)
n.382T>C
c.188T>C
c.882T>C (p.Thr294=)
c.948T>C (p.Thr316=)
c.957T>C (p.Thr319=)
1g.21575848T>GCA416533251ALPLc.1113T>G (p.Thr371=)
n.382T>G
c.188T>G
c.882T>G (p.Thr294=)
c.948T>G (p.Thr316=)
c.957T>G (p.Thr319=)
1g.21575849C>ACA338881281ALPLc.1114C>A (p.Leu372Met)
n.383C>A
c.189C>A
c.883C>A (p.Leu295Met)
c.949C>A (p.Leu317Met)
c.958C>A (p.Leu320Met)
1g.21575849C=CA1158019320ALPLc.1114C= (p.Leu372=)
n.383C=
c.189C=
c.883C= (p.Leu295=)
c.949C= (p.Leu317=)
c.958C= (p.Leu320=)
1g.21575849C>GCA338881282ALPLc.1114C>G (p.Leu372Val)
n.383C>G
c.189C>G
c.883C>G (p.Leu295Val)
c.949C>G (p.Leu317Val)
c.958C>G (p.Leu320Val)
 dbSNP gnomAD v2
1g.21575849C>TCA416533261ALPLc.1114C>T (p.Leu372=)
n.383C>T
c.189C>T
c.883C>T (p.Leu295=)
c.949C>T (p.Leu317=)
c.958C>T (p.Leu320=)
1g.21575850T>ACA338881284ALPLc.1115T>A (p.Leu372Gln)
n.384T>A
c.190T>A
c.884T>A (p.Leu295Gln)
c.950T>A (p.Leu317Gln)
c.959T>A (p.Leu320Gln)
1g.21575850T>CCA338881286ALPLc.1115T>C (p.Leu372Pro)
n.384T>C
c.190T>C
c.884T>C (p.Leu295Pro)
c.950T>C (p.Leu317Pro)
c.959T>C (p.Leu320Pro)
1g.21575850T>GCA338881288ALPLc.1115T>G (p.Leu372Arg)
n.384T>G
c.190T>G
c.884T>G (p.Leu295Arg)
c.950T>G (p.Leu317Arg)
c.959T>G (p.Leu320Arg)
1g.21575851G>ACA416533269ALPLc.1116G>A (p.Leu372=)
n.385G>A
c.191G>A
c.885G>A (p.Leu295=)
c.951G>A (p.Leu317=)
c.960G>A (p.Leu320=)
 ClinVar
1g.21575851G>CCA19070253ALPLc.1116G>C (p.Leu372=)
n.385G>C
c.191G>C
c.885G>C (p.Leu295=)
c.951G>C (p.Leu317=)
c.960G>C (p.Leu320=)
 dbSNP gnomAD v4
1g.21575851G=CA1143398688ALPLc.1116G= (p.Leu372=)
n.385G=
c.191G=
c.885G= (p.Leu295=)
c.951G= (p.Leu317=)
c.960G= (p.Leu320=)
1g.21575851G>TCA416533272ALPLc.1116G>T (p.Leu372=)
n.385G>T
c.191G>T
c.885G>T (p.Leu295=)
c.951G>T (p.Leu317=)
c.960G>T (p.Leu320=)
1g.21575852A>CCA338881290ALPLc.1117A>C (p.Thr373Pro)
n.386A>C
c.192A>C
c.886A>C (p.Thr296Pro)
c.952A>C (p.Thr318Pro)
c.961A>C (p.Thr321Pro)
1g.21575852A>GCA338881291ALPLc.1117A>G (p.Thr373Ala)
n.386A>G
c.192A>G
c.886A>G (p.Thr296Ala)
c.952A>G (p.Thr318Ala)
c.961A>G (p.Thr321Ala)
1g.21575852A>TCA338881293ALPLc.1117A>T (p.Thr373Ser)
n.386A>T
c.192A>T
c.886A>T (p.Thr296Ser)
c.952A>T (p.Thr318Ser)
c.961A>T (p.Thr321Ser)
1g.21575853C>ACA338881295ALPLc.1118C>A (p.Thr373Asn)
n.387C>A
c.193C>A
c.887C>A (p.Thr296Asn)
c.953C>A (p.Thr318Asn)
c.962C>A (p.Thr321Asn)
1g.21575853C>GCA338881296ALPLc.1118C>G (p.Thr373Ser)
n.387C>G
c.193C>G
c.887C>G (p.Thr296Ser)
c.953C>G (p.Thr318Ser)
c.962C>G (p.Thr321Ser)
1g.21575853C>TCA338881297ALPLc.1118C>T (p.Thr373Ile)
n.387C>T
c.193C>T
c.887C>T (p.Thr296Ile)
c.953C>T (p.Thr318Ile)
c.962C>T (p.Thr321Ile)
1g.21575854C>ACA416533288ALPLc.1119C>A (p.Thr373=)
n.388C>A
c.194C>A
c.888C>A (p.Thr296=)
c.954C>A (p.Thr318=)
c.963C>A (p.Thr321=)
1g.21575854C=CA1141262812ALPLc.1119C= (p.Thr373=)
n.388C=
c.194C=
c.888C= (p.Thr296=)
c.954C= (p.Thr318=)
c.963C= (p.Thr321=)
1g.21575854C>GCA416533290ALPLc.1119C>G (p.Thr373=)
n.388C>G
c.194C>G
c.888C>G (p.Thr296=)
c.954C>G (p.Thr318=)
c.963C>G (p.Thr321=)
1g.21575854C>TCA666734ALPLc.1119C>T (p.Thr373=)
n.388C>T
c.194C>T
c.888C>T (p.Thr296=)
c.954C>T (p.Thr318=)
c.963C>T (p.Thr321=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575855G>ACA666735ALPLc.1120G>A (p.Val374Met)
n.389G>A
c.195G>A
c.889G>A (p.Val297Met)
c.955G>A (p.Val319Met)
c.964G>A (p.Val322Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21575855G>CCA338881302ALPLc.1120G>C (p.Val374Leu)
n.389G>C
c.195G>C
c.889G>C (p.Val297Leu)
c.955G>C (p.Val319Leu)
c.964G>C (p.Val322Leu)
1g.21575855G=CA1146184802ALPLc.1120G= (p.Val374=)
n.389G=
c.195G=
c.889G= (p.Val297=)
c.955G= (p.Val319=)
c.964G= (p.Val322=)
1g.21575855G>TCA338881300ALPLc.1120G>T (p.Val374Leu)
n.389G>T
c.195G>T
c.889G>T (p.Val297Leu)
c.955G>T (p.Val319Leu)
c.964G>T (p.Val322Leu)
 gnomAD v4
1g.21575856T>ACA338881308ALPLc.1121T>A (p.Val374Glu)
n.390T>A
c.196T>A
c.890T>A (p.Val297Glu)
c.956T>A (p.Val319Glu)
c.965T>A (p.Val322Glu)
1g.21575856T>CCA338881304ALPLc.1121T>C (p.Val374Ala)
n.390T>C
c.196T>C
c.890T>C (p.Val297Ala)
c.956T>C (p.Val319Ala)
c.965T>C (p.Val322Ala)
1g.21575856T>GCA338881306ALPLc.1121T>G (p.Val374Gly)
n.390T>G
c.196T>G
c.890T>G (p.Val297Gly)
c.956T>G (p.Val319Gly)
c.965T>G (p.Val322Gly)
1g.21575857G>ACA666736ALPLc.1122G>A (p.Val374=)
n.391G>A
c.197G>A
c.891G>A (p.Val297=)
c.957G>A (p.Val319=)
c.966G>A (p.Val322=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21575857G>CCA416533306ALPLc.1122G>C (p.Val374=)
n.391G>C
c.197G>C
c.891G>C (p.Val297=)
c.957G>C (p.Val319=)
c.966G>C (p.Val322=)
1g.21575857G=CA1148875596ALPLc.1122G= (p.Val374=)
n.391G=
c.197G=
c.891G= (p.Val297=)
c.957G= (p.Val319=)
c.966G= (p.Val322=)
1g.21575857G>TCA416533303ALPLc.1122G>T (p.Val374=)
n.391G>T
c.197G>T
c.891G>T (p.Val297=)
c.957G>T (p.Val319=)
c.966G>T (p.Val322=)
1g.21575858G>ACA338881310ALPLc.1123G>A (p.Val375Ile)
n.392G>A
c.198G>A
c.892G>A (p.Val298Ile)
c.958G>A (p.Val320Ile)
c.967G>A (p.Val323Ile)
1g.21575858G>CCA338881311ALPLc.1123G>C (p.Val375Leu)
n.392G>C
c.198G>C
c.892G>C (p.Val298Leu)
c.958G>C (p.Val320Leu)
c.967G>C (p.Val323Leu)
1g.21575858G>TCA338881313ALPLc.1123G>T (p.Val375Phe)
n.392G>T
c.198G>T
c.892G>T (p.Val298Phe)
c.958G>T (p.Val320Phe)
c.967G>T (p.Val323Phe)
1g.21575859T>ACA338881316ALPLc.1124T>A (p.Val375Asp)
n.393T>A
c.199T>A
c.893T>A (p.Val298Asp)
c.959T>A (p.Val320Asp)
c.968T>A (p.Val323Asp)
1g.21575859T>CCA19070287ALPLc.1124T>C (p.Val375Ala)
n.393T>C
c.199T>C
c.893T>C (p.Val298Ala)
c.959T>C (p.Val320Ala)
c.968T>C (p.Val323Ala)
 dbSNP
1g.21575859T>GCA338881315ALPLc.1124T>G (p.Val375Gly)
n.393T>G
c.199T>G
c.893T>G (p.Val298Gly)
c.959T>G (p.Val320Gly)
c.968T>G (p.Val323Gly)
1g.21575859T=CA1158019321ALPLc.1124T= (p.Val375=)
n.393T=
c.199T=
c.893T= (p.Val298=)
c.959T= (p.Val320=)
c.968T= (p.Val323=)
1g.21575860C>ACA416533318ALPLc.1125C>A (p.Val375=)
n.394C>A
c.200C>A
c.894C>A (p.Val298=)
c.960C>A (p.Val320=)
c.969C>A (p.Val323=)
 gnomAD v4
1g.21575860C=CA1158019322ALPLc.1125C= (p.Val375=)
n.394C=
c.200C=
c.894C= (p.Val298=)
c.960C= (p.Val320=)
c.969C= (p.Val323=)
1g.21575860C>GCA19070301ALPLc.1125C>G (p.Val375=)
n.394C>G
c.200C>G
c.894C>G (p.Val298=)
c.960C>G (p.Val320=)
c.969C>G (p.Val323=)
 dbSNP
1g.21575860C>TCA416533315ALPLc.1125C>T (p.Val375=)
n.394C>T
c.200C>T
c.894C>T (p.Val298=)
c.960C>T (p.Val320=)
c.969C>T (p.Val323=)
1g.21575861A>CCA338881318ALPLc.1126A>C (p.Thr376Pro)
n.395A>C
c.201A>C
c.895A>C (p.Thr299Pro)
c.961A>C (p.Thr321Pro)
c.970A>C (p.Thr324Pro)
1g.21575861A>GCA338881320ALPLc.1126A>G (p.Thr376Ala)
n.395A>G
c.201A>G
c.895A>G (p.Thr299Ala)
c.961A>G (p.Thr321Ala)
c.970A>G (p.Thr324Ala)
 gnomAD v4
1g.21575861A>TCA338881322ALPLc.1126A>T (p.Thr376Ser)
n.395A>T
c.201A>T
c.895A>T (p.Thr299Ser)
c.961A>T (p.Thr321Ser)
c.970A>T (p.Thr324Ser)
1g.21575862C>ACA338881324ALPLc.1127C>A (p.Thr376Asn)
n.396C>A
c.202C>A
c.896C>A (p.Thr299Asn)
c.962C>A (p.Thr321Asn)
c.971C>A (p.Thr324Asn)
1g.21575862C>GCA338881325ALPLc.1127C>G (p.Thr376Ser)
n.396C>G
c.202C>G
c.896C>G (p.Thr299Ser)
c.962C>G (p.Thr321Ser)
c.971C>G (p.Thr324Ser)
 gnomAD v4
1g.21575862C>TCA338881327ALPLc.1127C>T (p.Thr376Ile)
n.396C>T
c.202C>T
c.896C>T (p.Thr299Ile)
c.962C>T (p.Thr321Ile)
c.971C>T (p.Thr324Ile)
1g.21575863T>ACA416533330ALPLc.1128T>A (p.Thr376=)
n.397T>A
c.203T>A
c.897T>A (p.Thr299=)
c.963T>A (p.Thr321=)
c.972T>A (p.Thr324=)
1g.21575863T>CCA416533327ALPLc.1128T>C (p.Thr376=)
n.397T>C
c.203T>C
c.897T>C (p.Thr299=)
c.963T>C (p.Thr321=)
c.972T>C (p.Thr324=)
1g.21575863T>GCA416533331ALPLc.1128T>G (p.Thr376=)
n.397T>G
c.203T>G
c.897T>G (p.Thr299=)
c.963T>G (p.Thr321=)
c.972T>G (p.Thr324=)
1g.21575864G>ACA338881329ALPLc.1129G>A (p.Ala377Thr)
n.398G>A
c.204G>A
c.898G>A (p.Ala300Thr)
c.964G>A (p.Ala322Thr)
c.973G>A (p.Ala325Thr)
1g.21575864G>CCA338881333ALPLc.1129G>C (p.Ala377Pro)
n.398G>C
c.204G>C
c.898G>C (p.Ala300Pro)
c.964G>C (p.Ala322Pro)
c.973G>C (p.Ala325Pro)
1g.21575864G>TCA338881331ALPLc.1129G>T (p.Ala377Ser)
n.398G>T
c.204G>T
c.898G>T (p.Ala300Ser)
c.964G>T (p.Ala322Ser)
c.973G>T (p.Ala325Ser)
 COSMIC
1g.21575865C>ACA338881334ALPLc.1130C>A (p.Ala377Glu)
n.399C>A
c.205C>A
c.899C>A (p.Ala300Glu)
c.965C>A (p.Ala322Glu)
c.974C>A (p.Ala325Glu)
1g.21575865C=CA1158019323ALPLc.1130C= (p.Ala377=)
n.399C=
c.205C=
c.899C= (p.Ala300=)
c.965C= (p.Ala322=)
c.974C= (p.Ala325=)
1g.21575865C>GCA338881335ALPLc.1130C>G (p.Ala377Gly)
n.399C>G
c.205C>G
c.899C>G (p.Ala300Gly)
c.965C>G (p.Ala322Gly)
c.974C>G (p.Ala325Gly)
1g.21575865C>TCA666737ALPLc.1130C>T (p.Ala377Val)
n.399C>T
c.205C>T
c.899C>T (p.Ala300Val)
c.965C>T (p.Ala322Val)
c.974C>T (p.Ala325Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.21575866G>ACA666738ALPLc.1131G>A (p.Ala377=)
n.400G>A
c.206G>A
c.900G>A (p.Ala300=)
c.966G>A (p.Ala322=)
c.975G>A (p.Ala325=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575866G>CCA416533345ALPLc.1131G>C (p.Ala377=)
n.400G>C
c.206G>C
c.900G>C (p.Ala300=)
c.966G>C (p.Ala322=)
c.975G>C (p.Ala325=)
1g.21575866G=CA1158019324ALPLc.1131G= (p.Ala377=)
n.400G=
c.206G=
c.900G= (p.Ala300=)
c.966G= (p.Ala322=)
c.975G= (p.Ala325=)
1g.21575866G>TCA416533343ALPLc.1131G>T (p.Ala377=)
n.400G>T
c.206G>T
c.900G>T (p.Ala300=)
c.966G>T (p.Ala322=)
c.975G>T (p.Ala325=)
 COSMIC
1g.21575867G>ACA338881338ALPLc.1132G>A (p.Asp378Asn)
n.401G>A
c.207G>A
c.901G>A (p.Asp301Asn)
c.967G>A (p.Asp323Asn)
c.976G>A (p.Asp326Asn)
1g.21575867G>CCA338881339ALPLc.1132G>C (p.Asp378His)
n.401G>C
c.207G>C
c.901G>C (p.Asp301His)
c.967G>C (p.Asp323His)
c.976G>C (p.Asp326His)
 ClinVar dbSNP gnomAD v4
1g.21575867G=CA1158019325ALPLc.1132G= (p.Asp378=)
n.401G=
c.207G=
c.901G= (p.Asp301=)
c.967G= (p.Asp323=)
c.976G= (p.Asp326=)
1g.21575867G>TCA338881341ALPLc.1132G>T (p.Asp378Tyr)
n.401G>T
c.207G>T
c.901G>T (p.Asp301Tyr)
c.967G>T (p.Asp323Tyr)
c.976G>T (p.Asp326Tyr)
 ClinVar
1g.21575868A=CA1141580648ALPLc.1133A= (p.Asp378=)
n.402A=
c.208A=
c.902A= (p.Asp301=)
c.968A= (p.Asp323=)
c.977A= (p.Asp326=)
1g.21575868A>CCA338881343ALPLc.1133A>C (p.Asp378Ala)
n.402A>C
c.208A>C
c.902A>C (p.Asp301Ala)
c.968A>C (p.Asp323Ala)
c.977A>C (p.Asp326Ala)
1g.21575868A>GCA338881345ALPLc.1133A>G (p.Asp378Gly)
n.402A>G
c.208A>G
c.902A>G (p.Asp301Gly)
c.968A>G (p.Asp323Gly)
c.977A>G (p.Asp326Gly)
1g.21575868A>TCA256928ALPLc.1133A>T (p.Asp378Val)
n.402A>T
c.208A>T
c.902A>T (p.Asp301Val)
c.968A>T (p.Asp323Val)
c.977A>T (p.Asp326Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21575869C>ACA338881347ALPLc.1134C>A (p.Asp378Glu)
n.403C>A
c.209C>A
c.903C>A (p.Asp301Glu)
c.969C>A (p.Asp323Glu)
c.978C>A (p.Asp326Glu)
1g.21575869C>GCA338881349ALPLc.1134C>G (p.Asp378Glu)
n.403C>G
c.209C>G
c.903C>G (p.Asp301Glu)
c.969C>G (p.Asp323Glu)
c.978C>G (p.Asp326Glu)
1g.21575869C>TCA416533355ALPLc.1134C>T (p.Asp378=)
n.403C>T
c.209C>T
c.903C>T (p.Asp301=)
c.969C>T (p.Asp323=)
c.978C>T (p.Asp326=)
 gnomAD v4
1g.21575870C>ACA338881351ALPLc.1135C>A (p.His379Asn)
n.404C>A
c.210C>A
c.904C>A (p.His302Asn)
c.970C>A (p.His324Asn)
c.979C>A (p.His327Asn)
1g.21575870C>GCA338881354ALPLc.1135C>G (p.His379Asp)
n.404C>G
c.210C>G
c.904C>G (p.His302Asp)
c.970C>G (p.His324Asp)
c.979C>G (p.His327Asp)
1g.21575870C>TCA338881352ALPLc.1135C>T (p.His379Tyr)
n.404C>T
c.210C>T
c.904C>T (p.His302Tyr)
c.970C>T (p.His324Tyr)
c.979C>T (p.His327Tyr)
1g.21575871A>CCA338881356ALPLc.1136A>C (p.His379Pro)
n.405A>C
c.211A>C
c.905A>C (p.His302Pro)
c.971A>C (p.His324Pro)
c.980A>C (p.His327Pro)
1g.21575871A>GCA338881357ALPLc.1136A>G (p.His379Arg)
n.405A>G
c.211A>G
c.905A>G (p.His302Arg)
c.971A>G (p.His324Arg)
c.980A>G (p.His327Arg)
1g.21575871A>TCA338881359ALPLc.1136A>T (p.His379Leu)
n.405A>T
c.211A>T
c.905A>T (p.His302Leu)
c.971A>T (p.His324Leu)
c.980A>T (p.His327Leu)
1g.21575872T>ACA338881360ALPLc.1137T>A (p.His379Gln)
n.406T>A
c.212T>A
c.906T>A (p.His302Gln)
c.972T>A (p.His324Gln)
c.981T>A (p.His327Gln)
1g.21575872T>CCA19070333ALPLc.1137T>C (p.His379=)
n.406T>C
c.212T>C
c.906T>C (p.His302=)
c.972T>C (p.His324=)
c.981T>C (p.His327=)
 ClinVar dbSNP gnomAD v4
1g.21575872T>GCA338881362ALPLc.1137T>G (p.His379Gln)
n.406T>G
c.212T>G
c.906T>G (p.His302Gln)
c.972T>G (p.His324Gln)
c.981T>G (p.His327Gln)
 ClinVar
1g.21575872T=CA1158019326ALPLc.1137T= (p.His379=)
n.406T=
c.212T=
c.906T= (p.His302=)
c.972T= (p.His324=)
c.981T= (p.His327=)
1g.21575873T>ACA338881364ALPLc.1138T>A (p.Ser380Thr)
n.407T>A
c.213T>A
c.907T>A (p.Ser303Thr)
c.973T>A (p.Ser325Thr)
c.982T>A (p.Ser328Thr)
1g.21575873T>CCA338881365ALPLc.1138T>C (p.Ser380Pro)
n.407T>C
c.213T>C
c.907T>C (p.Ser303Pro)
c.973T>C (p.Ser325Pro)
c.982T>C (p.Ser328Pro)
1g.21575873T>GCA338881366ALPLc.1138T>G (p.Ser380Ala)
n.407T>G
c.213T>G
c.907T>G (p.Ser303Ala)
c.973T>G (p.Ser325Ala)
c.982T>G (p.Ser328Ala)
1g.21575873_21575874delinsTCCA1158019327ALPLc.1138_1139delinsTC (p.Ser380=)
n.407_408delinsTC
c.213_214delinsTC
c.907_908delinsTC (p.Ser303=)
c.973_974delinsTC (p.Ser325=)
c.982_983delinsTC (p.Ser328=)
1g.21575874C>ACA338881367ALPLc.1139C>A (p.Ser380Tyr)
n.408C>A
c.214C>A
c.908C>A (p.Ser303Tyr)
c.974C>A (p.Ser325Tyr)
c.983C>A (p.Ser328Tyr)
1g.21575874C=CA1158019328ALPLc.1139C= (p.Ser380=)
n.408C=
c.214C=
c.908C= (p.Ser303=)
c.974C= (p.Ser325=)
c.983C= (p.Ser328=)
1g.21575874C>GCA338881369ALPLc.1139C>G (p.Ser380Cys)
n.408C>G
c.214C>G
c.908C>G (p.Ser303Cys)
c.974C>G (p.Ser325Cys)
c.983C>G (p.Ser328Cys)
1g.21575874C>TCA338881370ALPLc.1139C>T (p.Ser380Phe)
n.408C>T
c.214C>T
c.908C>T (p.Ser303Phe)
c.974C>T (p.Ser325Phe)
c.983C>T (p.Ser328Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.21575876delCA666739ALPLc.1141del (p.His381ThrfsTer22)
n.410del
c.216del
c.910del (p.His304ThrfsTer22)
c.976del (p.His326ThrfsTer22)
c.985del (p.His329ThrfsTer22)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575875C>ACA416533377ALPLc.1140C>A (p.Ser380=)
n.409C>A
c.215C>A
c.909C>A (p.Ser303=)
c.975C>A (p.Ser325=)
c.984C>A (p.Ser328=)
1g.21575875C>GCA416533380ALPLc.1140C>G (p.Ser380=)
n.409C>G
c.215C>G
c.909C>G (p.Ser303=)
c.975C>G (p.Ser325=)
c.984C>G (p.Ser328=)
1g.21575875C>TCA416533379ALPLc.1140C>T (p.Ser380=)
n.409C>T
c.215C>T
c.909C>T (p.Ser303=)
c.975C>T (p.Ser325=)
c.984C>T (p.Ser328=)
1g.21575876C>ACA338881374ALPLc.1141C>A (p.His381Asn)
n.410C>A
c.216C>A
c.910C>A (p.His304Asn)
c.976C>A (p.His326Asn)
c.985C>A (p.His329Asn)
1g.21575876C>GCA338881372ALPLc.1141C>G (p.His381Asp)
n.410C>G
c.216C>G
c.910C>G (p.His304Asp)
c.976C>G (p.His326Asp)
c.985C>G (p.His329Asp)
1g.21575876C>TCA338881371ALPLc.1141C>T (p.His381Tyr)
n.410C>T
c.216C>T
c.910C>T (p.His304Tyr)
c.976C>T (p.His326Tyr)
c.985C>T (p.His329Tyr)
1g.21575877A=CA1158019329ALPLc.1142A= (p.His381=)
n.411A=
c.217A=
c.911A= (p.His304=)
c.977A= (p.His326=)
c.986A= (p.His329=)
1g.21575877A>CCA338881375ALPLc.1142A>C (p.His381Pro)
n.411A>C
c.217A>C
c.911A>C (p.His304Pro)
c.977A>C (p.His326Pro)
c.986A>C (p.His329Pro)
1g.21575877A>GCA338881377ALPLc.1142A>G (p.His381Arg)
n.411A>G
c.217A>G
c.911A>G (p.His304Arg)
c.977A>G (p.His326Arg)
c.986A>G (p.His329Arg)
 ClinVar dbSNP
1g.21575877A>TCA338881378ALPLc.1142A>T (p.His381Leu)
n.411A>T
c.217A>T
c.911A>T (p.His304Leu)
c.977A>T (p.His326Leu)
c.986A>T (p.His329Leu)
1g.21575878C>ACA338881380ALPLc.1143C>A (p.His381Gln)
n.412C>A
c.218C>A
c.912C>A (p.His304Gln)
c.978C>A (p.His326Gln)
c.987C>A (p.His329Gln)
1g.21575878C=CA1149115573ALPLc.1143C= (p.His381=)
n.412C=
c.218C=
c.912C= (p.His304=)
c.978C= (p.His326=)
c.987C= (p.His329=)
1g.21575878C>GCA338881382ALPLc.1143C>G (p.His381Gln)
n.412C>G
c.218C>G
c.912C>G (p.His304Gln)
c.978C>G (p.His326Gln)
c.987C>G (p.His329Gln)
 ClinVar dbSNP
1g.21575878C>TCA666740ALPLc.1143C>T (p.His381=)
n.412C>T
c.218C>T
c.912C>T (p.His304=)
c.978C>T (p.His326=)
c.987C>T (p.His329=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575879G>ACA666741ALPLc.1144G>A (p.Val382Ile)
n.413G>A
c.219G>A
c.913G>A (p.Val305Ile)
c.979G>A (p.Val327Ile)
c.988G>A (p.Val330Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.21575879G>CCA338881384ALPLc.1144G>C (p.Val382Leu)
n.413G>C
c.219G>C
c.913G>C (p.Val305Leu)
c.979G>C (p.Val327Leu)
c.988G>C (p.Val330Leu)
 ClinVar
1g.21575879G=CA1158019330ALPLc.1144G= (p.Val382=)
n.413G=
c.219G=
c.913G= (p.Val305=)
c.979G= (p.Val327=)
c.988G= (p.Val330=)
1g.21575879G>TCA338881386ALPLc.1144G>T (p.Val382Phe)
n.413G>T
c.219G>T
c.913G>T (p.Val305Phe)
c.979G>T (p.Val327Phe)
c.988G>T (p.Val330Phe)
1g.21575880T>ACA338881388ALPLc.1145T>A (p.Val382Asp)
n.414T>A
c.220T>A
c.914T>A (p.Val305Asp)
c.980T>A (p.Val327Asp)
c.989T>A (p.Val330Asp)
 ClinVar dbSNP
1g.21575880T>CCA338881390ALPLc.1145T>C (p.Val382Ala)
n.414T>C
c.220T>C
c.914T>C (p.Val305Ala)
c.980T>C (p.Val327Ala)
c.989T>C (p.Val330Ala)
1g.21575880T>GCA338881392ALPLc.1145T>G (p.Val382Gly)
n.414T>G
c.220T>G
c.914T>G (p.Val305Gly)
c.980T>G (p.Val327Gly)
c.989T>G (p.Val330Gly)
1g.21575881C>ACA416533398ALPLc.1146C>A (p.Val382=)
n.415C>A
c.221C>A
c.915C>A (p.Val305=)
c.981C>A (p.Val327=)
c.990C>A (p.Val330=)
1g.21575881C>GCA416533400ALPLc.1146C>G (p.Val382=)
n.415C>G
c.221C>G
c.915C>G (p.Val305=)
c.981C>G (p.Val327=)
c.990C>G (p.Val330=)
1g.21575881C>TCA416533402ALPLc.1146C>T (p.Val382=)
n.415C>T
c.221C>T
c.915C>T (p.Val305=)
c.981C>T (p.Val327=)
c.990C>T (p.Val330=)
1g.21575882T>ACA338881397ALPLc.1147T>A (p.Phe383Ile)
n.416T>A
c.222T>A
c.916T>A (p.Phe306Ile)
c.982T>A (p.Phe328Ile)
c.991T>A (p.Phe331Ile)
1g.21575882T>CCA338881395ALPLc.1147T>C (p.Phe383Leu)
n.416T>C
c.222T>C
c.916T>C (p.Phe306Leu)
c.982T>C (p.Phe328Leu)
c.991T>C (p.Phe331Leu)
1g.21575882T>GCA338881394ALPLc.1147T>G (p.Phe383Val)
n.416T>G
c.222T>G
c.916T>G (p.Phe306Val)
c.982T>G (p.Phe328Val)
c.991T>G (p.Phe331Val)
1g.21575882_21575885dupCA2643931723ALPLc.1147_1150dup (p.Thr384IlefsTer22)
n.416_419dup
c.222_225dup
c.916_919dup (p.Thr307IlefsTer22)
c.982_985dup (p.Thr329IlefsTer22)
c.991_994dup (p.Thr332IlefsTer22)
 gnomAD v4
1g.21575883T>ACA338881399ALPLc.1148T>A (p.Phe383Tyr)
n.417T>A
c.223T>A
c.917T>A (p.Phe306Tyr)
c.983T>A (p.Phe328Tyr)
c.992T>A (p.Phe331Tyr)
1g.21575883T>CCA338881402ALPLc.1148T>C (p.Phe383Ser)
n.417T>C
c.223T>C
c.917T>C (p.Phe306Ser)
c.983T>C (p.Phe328Ser)
c.992T>C (p.Phe331Ser)
1g.21575883T>GCA338881401ALPLc.1148T>G (p.Phe383Cys)
n.417T>G
c.223T>G
c.917T>G (p.Phe306Cys)
c.983T>G (p.Phe328Cys)
c.992T>G (p.Phe331Cys)
1g.21575884C>ACA338881404ALPLc.1149C>A (p.Phe383Leu)
n.418C>A
c.224C>A
c.918C>A (p.Phe306Leu)
c.984C>A (p.Phe328Leu)
c.993C>A (p.Phe331Leu)
1g.21575884C>GCA338881406ALPLc.1149C>G (p.Phe383Leu)
n.418C>G
c.224C>G
c.918C>G (p.Phe306Leu)
c.984C>G (p.Phe328Leu)
c.993C>G (p.Phe331Leu)
1g.21575884C>TCA416533413ALPLc.1149C>T (p.Phe383=)
n.418C>T
c.224C>T
c.918C>T (p.Phe306=)
c.984C>T (p.Phe328=)
c.993C>T (p.Phe331=)
1g.21575885A>CCA338881407ALPLc.1150A>C (p.Thr384Pro)
n.419A>C
c.225A>C
c.919A>C (p.Thr307Pro)
c.985A>C (p.Thr329Pro)
c.994A>C (p.Thr332Pro)
1g.21575885A>GCA338881408ALPLc.1150A>G (p.Thr384Ala)
n.419A>G
c.225A>G
c.919A>G (p.Thr307Ala)
c.985A>G (p.Thr329Ala)
c.994A>G (p.Thr332Ala)
1g.21575885A>TCA338881411ALPLc.1150A>T (p.Thr384Ser)
n.419A>T
c.225A>T
c.919A>T (p.Thr307Ser)
c.985A>T (p.Thr329Ser)
c.994A>T (p.Thr332Ser)
1g.21575886C>ACA338881413ALPLc.1151C>A (p.Thr384Lys)
n.420C>A
c.226C>A
c.920C>A (p.Thr307Lys)
c.986C>A (p.Thr329Lys)
c.995C>A (p.Thr332Lys)
1g.21575886C>GCA338881414ALPLc.1151C>G (p.Thr384Arg)
n.420C>G
c.226C>G
c.920C>G (p.Thr307Arg)
c.986C>G (p.Thr329Arg)
c.995C>G (p.Thr332Arg)
 ClinVar
1g.21575886C>TCA338881415ALPLc.1151C>T (p.Thr384Ile)
n.420C>T
c.226C>T
c.920C>T (p.Thr307Ile)
c.986C>T (p.Thr329Ile)
c.995C>T (p.Thr332Ile)
 ClinVar dbSNP
1g.21575887A=CA1158019331ALPLc.1152A= (p.Thr384=)
n.421A=
c.227A=
c.921A= (p.Thr307=)
c.987A= (p.Thr329=)
c.996A= (p.Thr332=)
1g.21575887A>CCA416533424ALPLc.1152A>C (p.Thr384=)
n.421A>C
c.227A>C
c.921A>C (p.Thr307=)
c.987A>C (p.Thr329=)
c.996A>C (p.Thr332=)
 gnomAD v4
1g.21575887A>GCA416533426ALPLc.1152A>G (p.Thr384=)
n.421A>G
c.227A>G
c.921A>G (p.Thr307=)
c.987A>G (p.Thr329=)
c.996A>G (p.Thr332=)
 dbSNP gnomAD v2 gnomAD v4
1g.21575887A>TCA416533422ALPLc.1152A>T (p.Thr384=)
n.421A>T
c.227A>T
c.921A>T (p.Thr307=)
c.987A>T (p.Thr329=)
c.996A>T (p.Thr332=)
 ClinVar dbSNP gnomAD v4
1g.21575888T>ACA338881417ALPLc.1153T>A (p.Phe385Ile)
n.422T>A
c.228T>A
c.922T>A (p.Phe308Ile)
c.988T>A (p.Phe330Ile)
c.997T>A (p.Phe333Ile)
1g.21575888T>CCA338881419ALPLc.1153T>C (p.Phe385Leu)
n.422T>C
c.228T>C
c.922T>C (p.Phe308Leu)
c.988T>C (p.Phe330Leu)
c.997T>C (p.Phe333Leu)
1g.21575888T>GCA338881421ALPLc.1153T>G (p.Phe385Val)
n.422T>G
c.228T>G
c.922T>G (p.Phe308Val)
c.988T>G (p.Phe330Val)
c.997T>G (p.Phe333Val)
1g.21575889T>ACA338881425ALPLc.1154T>A (p.Phe385Tyr)
n.423T>A
c.229T>A
c.923T>A (p.Phe308Tyr)
c.989T>A (p.Phe330Tyr)
c.998T>A (p.Phe333Tyr)
1g.21575889T>CCA338881422ALPLc.1154T>C (p.Phe385Ser)
n.423T>C
c.229T>C
c.923T>C (p.Phe308Ser)
c.989T>C (p.Phe330Ser)
c.998T>C (p.Phe333Ser)
1g.21575889T>GCA338881423ALPLc.1154T>G (p.Phe385Cys)
n.423T>G
c.229T>G
c.923T>G (p.Phe308Cys)
c.989T>G (p.Phe330Cys)
c.998T>G (p.Phe333Cys)
1g.21575890T>ACA338881427ALPLc.1155T>A (p.Phe385Leu)
n.424T>A
c.230T>A
c.924T>A (p.Phe308Leu)
c.990T>A (p.Phe330Leu)
c.999T>A (p.Phe333Leu)
1g.21575890T>CCA416533435ALPLc.1155T>C (p.Phe385=)
n.424T>C
c.230T>C
c.924T>C (p.Phe308=)
c.990T>C (p.Phe330=)
c.999T>C (p.Phe333=)
1g.21575890T>GCA338881428ALPLc.1155T>G (p.Phe385Leu)
n.424T>G
c.230T>G
c.924T>G (p.Phe308Leu)
c.990T>G (p.Phe330Leu)
c.999T>G (p.Phe333Leu)
1g.21575891G>ACA338881430ALPLc.1156G>A (p.Gly386Ser)
n.425G>A
c.231G>A
c.925G>A (p.Gly309Ser)
c.991G>A (p.Gly331Ser)
c.1000G>A (p.Gly334Ser)
1g.21575891G>CCA338881432ALPLc.1156G>C (p.Gly386Arg)
n.425G>C
c.231G>C
c.925G>C (p.Gly309Arg)
c.991G>C (p.Gly331Arg)
c.1000G>C (p.Gly334Arg)
1g.21575891G>TCA338881434ALPLc.1156G>T (p.Gly386Cys)
n.425G>T
c.231G>T
c.925G>T (p.Gly309Cys)
c.991G>T (p.Gly331Cys)
c.1000G>T (p.Gly334Cys)
 gnomAD v4
1g.21575892G>ACA338881435ALPLc.1157G>A (p.Gly386Asp)
n.426G>A
c.232G>A
c.926G>A (p.Gly309Asp)
c.992G>A (p.Gly331Asp)
c.1001G>A (p.Gly334Asp)
 ClinVar
1g.21575892G>CCA338881437ALPLc.1157G>C (p.Gly386Ala)
n.426G>C
c.232G>C
c.926G>C (p.Gly309Ala)
c.992G>C (p.Gly331Ala)
c.1001G>C (p.Gly334Ala)
1g.21575892G>TCA338881439ALPLc.1157G>T (p.Gly386Val)
n.426G>T
c.232G>T
c.926G>T (p.Gly309Val)
c.992G>T (p.Gly331Val)
c.1001G>T (p.Gly334Val)
1g.21575893T>ACA416533445ALPLc.1158T>A (p.Gly386=)
n.427T>A
c.233T>A
c.927T>A (p.Gly309=)
c.993T>A (p.Gly331=)
c.1002T>A (p.Gly334=)
1g.21575893T>CCA416533447ALPLc.1158T>C (p.Gly386=)
n.427T>C
c.233T>C
c.927T>C (p.Gly309=)
c.993T>C (p.Gly331=)
c.1002T>C (p.Gly334=)
1g.21575893T>GCA416533449ALPLc.1158T>G (p.Gly386=)
n.427T>G
c.233T>G
c.927T>G (p.Gly309=)
c.993T>G (p.Gly331=)
c.1002T>G (p.Gly334=)
 dbSNP gnomAD v4
1g.21575893T=CA1158019332ALPLc.1158T= (p.Gly386=)
n.427T=
c.233T=
c.927T= (p.Gly309=)
c.993T= (p.Gly331=)
c.1002T= (p.Gly334=)
1g.21575894G>ACA19070354ALPLc.1159G>A (p.Gly387Arg)
n.428G>A
c.234G>A
c.928G>A (p.Gly310Arg)
c.994G>A (p.Gly332Arg)
c.1003G>A (p.Gly335Arg)
 dbSNP COSMIC
1g.21575894G>CCA338881441ALPLc.1159G>C (p.Gly387Arg)
n.428G>C
c.234G>C
c.928G>C (p.Gly310Arg)
c.994G>C (p.Gly332Arg)
c.1003G>C (p.Gly335Arg)
1g.21575894G=CA1142373864ALPLc.1159G= (p.Gly387=)
n.428G=
c.234G=
c.928G= (p.Gly310=)
c.994G= (p.Gly332=)
c.1003G= (p.Gly335=)
1g.21575894G>TCA338881442ALPLc.1159G>T (p.Gly387Ter)
n.428G>T
c.234G>T
c.928G>T (p.Gly310Ter)
c.994G>T (p.Gly332Ter)
c.1003G>T (p.Gly335Ter)
1g.21575895G>ACA338881445ALPLc.1160G>A (p.Gly387Glu)
n.429G>A
c.235G>A
c.929G>A (p.Gly310Glu)
c.995G>A (p.Gly332Glu)
c.1004G>A (p.Gly335Glu)
1g.21575895G>CCA338881447ALPLc.1160G>C (p.Gly387Ala)
n.429G>C
c.235G>C
c.929G>C (p.Gly310Ala)
c.995G>C (p.Gly332Ala)
c.1004G>C (p.Gly335Ala)
1g.21575895G>TCA338881444ALPLc.1160G>T (p.Gly387Val)
n.429G>T
c.235G>T
c.929G>T (p.Gly310Val)
c.995G>T (p.Gly332Val)
c.1004G>T (p.Gly335Val)
1g.21575896A>CCA416533451ALPLc.1161A>C (p.Gly387=)
n.430A>C
c.236A>C
c.930A>C (p.Gly310=)
c.996A>C (p.Gly332=)
c.1005A>C (p.Gly335=)
1g.21575896A>GCA416533452ALPLc.1161A>G (p.Gly387=)
n.430A>G
c.236A>G
c.930A>G (p.Gly310=)
c.996A>G (p.Gly332=)
c.1005A>G (p.Gly335=)
 ClinVar gnomAD v4
1g.21575896A>TCA416533454ALPLc.1161A>T (p.Gly387=)
n.430A>T
c.236A>T
c.930A>T (p.Gly310=)
c.996A>T (p.Gly332=)
c.1005A>T (p.Gly335=)
1g.21575897T>ACA338881448ALPLc.1162T>A (p.Tyr388Asn)
n.431T>A
c.237T>A
c.931T>A (p.Tyr311Asn)
c.997T>A (p.Tyr333Asn)
c.1006T>A (p.Tyr336Asn)
1g.21575897T>CCA338881450ALPLc.1162T>C (p.Tyr388His)
n.431T>C
c.237T>C
c.931T>C (p.Tyr311His)
c.997T>C (p.Tyr333His)
c.1006T>C (p.Tyr336His)
 ClinVar dbSNP gnomAD v4
1g.21575897T>GCA338881452ALPLc.1162T>G (p.Tyr388Asp)
n.431T>G
c.237T>G
c.931T>G (p.Tyr311Asp)
c.997T>G (p.Tyr333Asp)
c.1006T>G (p.Tyr336Asp)
 ClinVar
1g.21575897T=CA1158019333ALPLc.1162T= (p.Tyr388=)
n.431T=
c.237T=
c.931T= (p.Tyr311=)
c.997T= (p.Tyr333=)
c.1006T= (p.Tyr336=)
1g.21575898A=CA1158019334ALPLc.1163A= (p.Tyr388=)
n.432A=
c.238A=
c.932A= (p.Tyr311=)
c.998A= (p.Tyr333=)
c.1007A= (p.Tyr336=)
1g.21575898A>CCA338881454ALPLc.1163A>C (p.Tyr388Ser)
n.432A>C
c.238A>C
c.932A>C (p.Tyr311Ser)
c.998A>C (p.Tyr333Ser)
c.1007A>C (p.Tyr336Ser)
1g.21575898A>GCA338881455ALPLc.1163A>G (p.Tyr388Cys)
n.432A>G
c.238A>G
c.932A>G (p.Tyr311Cys)
c.998A>G (p.Tyr333Cys)
c.1007A>G (p.Tyr336Cys)
 ClinVar dbSNP
1g.21575898A>TCA338881456ALPLc.1163A>T (p.Tyr388Phe)
n.432A>T
c.238A>T
c.932A>T (p.Tyr311Phe)
c.998A>T (p.Tyr333Phe)
c.1007A>T (p.Tyr336Phe)
1g.21575899C>ACA338881459ALPLc.1164C>A (p.Tyr388Ter)
n.433C>A
c.239C>A
c.933C>A (p.Tyr311Ter)
c.999C>A (p.Tyr333Ter)
c.1008C>A (p.Tyr336Ter)
 ClinVar dbSNP
1g.21575899C>GCA338881461ALPLc.1164C>G (p.Tyr388Ter)
n.433C>G
c.239C>G
c.933C>G (p.Tyr311Ter)
c.999C>G (p.Tyr333Ter)
c.1008C>G (p.Tyr336Ter)
1g.21575899C>TCA416533463ALPLc.1164C>T (p.Tyr388=)
n.433C>T
c.239C>T
c.933C>T (p.Tyr311=)
c.999C>T (p.Tyr333=)
c.1008C>T (p.Tyr336=)
1g.21575900A=CA1158019336ALPLc.1165A= (p.Thr389=)
n.434A=
c.240A=
c.934A= (p.Thr312=)
c.1000A= (p.Thr334=)
c.1009A= (p.Thr337=)
1g.21575900A>CCA338881462ALPLc.1165A>C (p.Thr389Pro)
n.434A>C
c.240A>C
c.934A>C (p.Thr312Pro)
c.1000A>C (p.Thr334Pro)
c.1009A>C (p.Thr337Pro)
 ClinVar
1g.21575900A>GCA666744ALPLc.1165A>G (p.Thr389Ala)
n.434A>G
c.240A>G
c.934A>G (p.Thr312Ala)
c.1000A>G (p.Thr334Ala)
c.1009A>G (p.Thr337Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575900A>TCA338881465ALPLc.1165A>T (p.Thr389Ser)
n.434A>T
c.240A>T
c.934A>T (p.Thr312Ser)
c.1000A>T (p.Thr334Ser)
c.1009A>T (p.Thr337Ser)
1g.21575900_21575901delinsACCA1158019335ALPLc.1165_1166delinsAC (p.Thr389=)
n.434_435delinsAC
c.240_241delinsAC
c.934_935delinsAC (p.Thr312=)
c.1000_1001delinsAC (p.Thr334=)
c.1009_1010delinsAC (p.Thr337=)
1g.21575901C>ACA666745ALPLc.1166C>A (p.Thr389Asn)
n.435C>A
c.241C>A
c.935C>A (p.Thr312Asn)
c.1001C>A (p.Thr334Asn)
c.1010C>A (p.Thr337Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21575901C=CA1148306658ALPLc.1166C= (p.Thr389=)
n.435C=
c.241C=
c.935C= (p.Thr312=)
c.1001C= (p.Thr334=)
c.1010C= (p.Thr337=)
1g.21575901C>GCA338881471ALPLc.1166C>G (p.Thr389Ser)
n.435C>G
c.241C>G
c.935C>G (p.Thr312Ser)
c.1001C>G (p.Thr334Ser)
c.1010C>G (p.Thr337Ser)
 ClinVar dbSNP
1g.21575901C>TCA338881467ALPLc.1166C>T (p.Thr389Ile)
n.435C>T
c.241C>T
c.935C>T (p.Thr312Ile)
c.1001C>T (p.Thr334Ile)
c.1010C>T (p.Thr337Ile)
 gnomAD v4
1g.21575906dupCA666743ALPLc.1171dup (p.Arg391ProfsTer14)
n.440dup
c.246dup
c.940dup (p.Arg314ProfsTer14)
c.1006dup (p.Arg336ProfsTer14)
c.1015dup (p.Arg339ProfsTer14)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21575906delCA666742ALPLc.1171del (p.Arg391ValfsTer12)
n.440del
c.246del
c.940del (p.Arg314ValfsTer12)
c.1006del (p.Arg336ValfsTer12)
c.1015del (p.Arg339ValfsTer12)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21575902C>ACA416533478ALPLc.1167C>A (p.Thr389=)
n.436C>A
c.242C>A
c.936C>A (p.Thr312=)
c.1002C>A (p.Thr334=)
c.1011C>A (p.Thr337=)
 gnomAD v4
1g.21575902C=CA1158019337ALPLc.1167C= (p.Thr389=)
n.436C=
c.242C=
c.936C= (p.Thr312=)
c.1002C= (p.Thr334=)
c.1011C= (p.Thr337=)
1g.21575902C>GCA416533477ALPLc.1167C>G (p.Thr389=)
n.436C>G
c.242C>G
c.936C>G (p.Thr312=)
c.1002C>G (p.Thr334=)
c.1011C>G (p.Thr337=)
1g.21575902C>TCA666746ALPLc.1167C>T (p.Thr389=)
n.436C>T
c.242C>T
c.936C>T (p.Thr312=)
c.1002C>T (p.Thr334=)
c.1011C>T (p.Thr337=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21575903C>ACA338881473ALPLc.1168C>A (p.Pro390Thr)
n.437C>A
c.243C>A
c.937C>A (p.Pro313Thr)
c.1003C>A (p.Pro335Thr)
c.1012C>A (p.Pro338Thr)
 dbSNP gnomAD v4
1g.21575903C=CA1158019338ALPLc.1168C= (p.Pro390=)
n.437C=
c.243C=
c.937C= (p.Pro313=)
c.1003C= (p.Pro335=)
c.1012C= (p.Pro338=)
1g.21575903C>GCA338881475ALPLc.1168C>G (p.Pro390Ala)
n.437C>G
c.243C>G
c.937C>G (p.Pro313Ala)
c.1003C>G (p.Pro335Ala)
c.1012C>G (p.Pro338Ala)
1g.21575903C>TCA338881476ALPLc.1168C>T (p.Pro390Ser)
n.437C>T
c.243C>T
c.937C>T (p.Pro313Ser)
c.1003C>T (p.Pro335Ser)
c.1012C>T (p.Pro338Ser)
1g.21575904C>ACA19070384ALPLc.1169C>A (p.Pro390His)
n.438C>A
c.244C>A
c.938C>A (p.Pro313His)
c.1004C>A (p.Pro335His)
c.1013C>A (p.Pro338His)
 dbSNP gnomAD v4
1g.21575904C=CA1158019339ALPLc.1169C= (p.Pro390=)
n.438C=
c.244C=
c.938C= (p.Pro313=)
c.1004C= (p.Pro335=)
c.1013C= (p.Pro338=)
1g.21575904C>GCA338881479ALPLc.1169C>G (p.Pro390Arg)
n.438C>G
c.244C>G
c.938C>G (p.Pro313Arg)
c.1004C>G (p.Pro335Arg)
c.1013C>G (p.Pro338Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21575904C>TCA338881478ALPLc.1169C>T (p.Pro390Leu)
n.438C>T
c.244C>T
c.938C>T (p.Pro313Leu)
c.1004C>T (p.Pro335Leu)
c.1013C>T (p.Pro338Leu)
 gnomAD v4 COSMIC
1g.21575905C>ACA416533484ALPLc.1170C>A (p.Pro390=)
n.439C>A
c.245C>A
c.939C>A (p.Pro313=)
c.1005C>A (p.Pro335=)
c.1014C>A (p.Pro338=)
1g.21575905C=CA1158019340ALPLc.1170C= (p.Pro390=)
n.439C=
c.245C=
c.939C= (p.Pro313=)
c.1005C= (p.Pro335=)
c.1014C= (p.Pro338=)
1g.21575905C>GCA416533486ALPLc.1170C>G (p.Pro390=)
n.439C>G
c.245C>G
c.939C>G (p.Pro313=)
c.1005C>G (p.Pro335=)
c.1014C>G (p.Pro338=)
 dbSNP gnomAD v2 gnomAD v4
1g.21575905C>TCA416533489ALPLc.1170C>T (p.Pro390=)
n.439C>T
c.245C>T
c.939C>T (p.Pro313=)
c.1005C>T (p.Pro335=)
c.1014C>T (p.Pro338=)
 COSMIC
1g.21575906C>ACA338881482ALPLc.1171C>A (p.Arg391Ser)
n.440C>A
c.246C>A
c.940C>A (p.Arg314Ser)
c.1006C>A (p.Arg336Ser)
c.1015C>A (p.Arg339Ser)
 ClinVar
1g.21575906C=CA1143782795ALPLc.1171C= (p.Arg391=)
n.440C=
c.246C=
c.940C= (p.Arg314=)
c.1006C= (p.Arg336=)
c.1015C= (p.Arg339=)
1g.21575906C>GCA338881484ALPLc.1171C>G (p.Arg391Gly)
n.440C>G
c.246C>G
c.940C>G (p.Arg314Gly)
c.1006C>G (p.Arg336Gly)
c.1015C>G (p.Arg339Gly)
1g.21575906C>TCA666747ALPLc.1171C>T (p.Arg391Cys)
n.440C>T
c.246C>T
c.940C>T (p.Arg314Cys)
c.1006C>T (p.Arg336Cys)
c.1015C>T (p.Arg339Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575907delCA2643931724ALPLc.1172del (p.Arg391LeufsTer12)
n.441del
c.247del
c.941del (p.Arg314LeufsTer12)
c.1007del (p.Arg336LeufsTer12)
c.1016del (p.Arg339LeufsTer12)
 gnomAD v4
1g.21575907G>ACA338881485ALPLc.1172G>A (p.Arg391His)
n.441G>A
c.247G>A
c.941G>A (p.Arg314His)
c.1007G>A (p.Arg336His)
c.1016G>A (p.Arg339His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21575907G>CCA338881487ALPLc.1172G>C (p.Arg391Pro)
n.441G>C
c.247G>C
c.941G>C (p.Arg314Pro)
c.1007G>C (p.Arg336Pro)
c.1016G>C (p.Arg339Pro)
1g.21575907G=CA1158019341ALPLc.1172G= (p.Arg391=)
n.441G=
c.247G=
c.941G= (p.Arg314=)
c.1007G= (p.Arg336=)
c.1016G= (p.Arg339=)
1g.21575907G>TCA338881489ALPLc.1172G>T (p.Arg391Leu)
n.441G>T
c.247G>T
c.941G>T (p.Arg314Leu)
c.1007G>T (p.Arg336Leu)
c.1016G>T (p.Arg339Leu)
1g.21575908T>ACA416533499ALPLc.1173T>A (p.Arg391=)
n.442T>A
c.248T>A
c.942T>A (p.Arg314=)
c.1008T>A (p.Arg336=)
c.1017T>A (p.Arg339=)
1g.21575908T>CCA416533501ALPLc.1173T>C (p.Arg391=)
n.442T>C
c.248T>C
c.942T>C (p.Arg314=)
c.1008T>C (p.Arg336=)
c.1017T>C (p.Arg339=)
 ClinVar dbSNP
1g.21575908T>GCA416533497ALPLc.1173T>G (p.Arg391=)
n.442T>G
c.248T>G
c.942T>G (p.Arg314=)
c.1008T>G (p.Arg336=)
c.1017T>G (p.Arg339=)
1g.21575909G>ACA338881493ALPLc.1174G>A (p.Gly392Ser)
n.443G>A
c.249G>A
c.943G>A (p.Gly315Ser)
c.1009G>A (p.Gly337Ser)
c.1018G>A (p.Gly340Ser)
 ClinVar dbSNP
1g.21575909G>CCA338881492ALPLc.1174G>C (p.Gly392Arg)
n.443G>C
c.249G>C
c.943G>C (p.Gly315Arg)
c.1009G>C (p.Gly337Arg)
c.1018G>C (p.Gly340Arg)
1g.21575909G=CA1158019342ALPLc.1174G= (p.Gly392=)
n.443G=
c.249G=
c.943G= (p.Gly315=)
c.1009G= (p.Gly337=)
c.1018G= (p.Gly340=)
1g.21575909G>TCA338881491ALPLc.1174G>T (p.Gly392Cys)
n.443G>T
c.249G>T
c.943G>T (p.Gly315Cys)
c.1009G>T (p.Gly337Cys)
c.1018G>T (p.Gly340Cys)
1g.21575910G>ACA338881495ALPLc.1175G>A (p.Gly392Asp)
n.444G>A
c.250G>A
c.944G>A (p.Gly315Asp)
c.1010G>A (p.Gly337Asp)
c.1019G>A (p.Gly340Asp)
 dbSNP gnomAD v2
1g.21575910G>CCA338881499ALPLc.1175G>C (p.Gly392Ala)
n.444G>C
c.250G>C
c.944G>C (p.Gly315Ala)
c.1010G>C (p.Gly337Ala)
c.1019G>C (p.Gly340Ala)
 gnomAD v4
1g.21575910G=CA1158019343ALPLc.1175G= (p.Gly392=)
n.444G=
c.250G=
c.944G= (p.Gly315=)
c.1010G= (p.Gly337=)
c.1019G= (p.Gly340=)
1g.21575910G>TCA338881497ALPLc.1175G>T (p.Gly392Val)
n.444G>T
c.250G>T
c.944G>T (p.Gly315Val)
c.1010G>T (p.Gly337Val)
c.1019G>T (p.Gly340Val)
1g.21575911C>ACA416533509ALPLc.1176C>A (p.Gly392=)
n.445C>A
c.251C>A
c.945C>A (p.Gly315=)
c.1011C>A (p.Gly337=)
c.1020C>A (p.Gly340=)
1g.21575911C=CA1144082189ALPLc.1176C= (p.Gly392=)
n.445C=
c.251C=
c.945C= (p.Gly315=)
c.1011C= (p.Gly337=)
c.1020C= (p.Gly340=)
1g.21575911C>GCA666748ALPLc.1176C>G (p.Gly392=)
n.445C>G
c.251C>G
c.945C>G (p.Gly315=)
c.1011C>G (p.Gly337=)
c.1020C>G (p.Gly340=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575911C>TCA416533511ALPLc.1176C>T (p.Gly392=)
n.445C>T
c.251C>T
c.945C>T (p.Gly315=)
c.1011C>T (p.Gly337=)
c.1020C>T (p.Gly340=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21575912A>CCA338881503ALPLc.1177A>C (p.Asn393His)
n.446A>C
c.252A>C
c.946A>C (p.Asn316His)
c.1012A>C (p.Asn338His)
c.1021A>C (p.Asn341His)
1g.21575912A>GCA338881502ALPLc.1177A>G (p.Asn393Asp)
n.446A>G
c.252A>G
c.946A>G (p.Asn316Asp)
c.1012A>G (p.Asn338Asp)
c.1021A>G (p.Asn341Asp)
1g.21575912A>TCA338881504ALPLc.1177A>T (p.Asn393Tyr)
n.446A>T
c.252A>T
c.946A>T (p.Asn316Tyr)
c.1012A>T (p.Asn338Tyr)
c.1021A>T (p.Asn341Tyr)
1g.21575913A>CCA338881506ALPLc.1178A>C (p.Asn393Thr)
n.447A>C
c.253A>C
c.947A>C (p.Asn316Thr)
c.1013A>C (p.Asn338Thr)
c.1022A>C (p.Asn341Thr)
1g.21575913A>GCA338881507ALPLc.1178A>G (p.Asn393Ser)
n.447A>G
c.253A>G
c.947A>G (p.Asn316Ser)
c.1013A>G (p.Asn338Ser)
c.1022A>G (p.Asn341Ser)
1g.21575913A>TCA338881508ALPLc.1178A>T (p.Asn393Ile)
n.447A>T
c.253A>T
c.947A>T (p.Asn316Ile)
c.1013A>T (p.Asn338Ile)
c.1022A>T (p.Asn341Ile)
1g.21575913_21575915delCA913072856ALPLc.1178_1180del (p.Asn393_Ser394delinsThr)
n.447_449del
c.253_255del
c.947_949del (p.Asn316_Ser317delinsThr)
c.1013_1015del (p.Asn338_Ser339delinsThr)
c.1022_1024del (p.Asn341_Ser342delinsThr)
1g.21575913_21575915delinsACTCA1158019344ALPLc.1178_1180delinsACT (p.Asn393=)
n.447_449delinsACT
c.253_255delinsACT
c.947_949delinsACT (p.Asn316=)
c.1013_1015delinsACT (p.Asn338=)
c.1022_1024delinsACT (p.Asn341=)
1g.21575913_21575919delCA913072857ALPLc.1178_1184del (p.Asn393ThrfsTer8)
n.447_453del
c.253_259del
c.947_953del (p.Asn316ThrfsTer8)
c.1013_1019del (p.Asn338ThrfsTer8)
c.1022_1028del (p.Asn341ThrfsTer8)
1g.21575913_21575919delinsACTCTATCA1158019345ALPLc.1178_1184delinsACTCTAT (p.Asn393=)
n.447_453delinsACTCTAT
c.253_259delinsACTCTAT
c.947_953delinsACTCTAT (p.Asn316=)
c.1013_1019delinsACTCTAT (p.Asn338=)
c.1022_1028delinsACTCTAT (p.Asn341=)
1g.21575914C>ACA338881510ALPLc.1179C>A (p.Asn393Lys)
n.448C>A
c.254C>A
c.948C>A (p.Asn316Lys)
c.1014C>A (p.Asn338Lys)
c.1023C>A (p.Asn341Lys)
1g.21575914C>GCA338881511ALPLc.1179C>G (p.Asn393Lys)
n.448C>G
c.254C>G
c.948C>G (p.Asn316Lys)
c.1014C>G (p.Asn338Lys)
c.1023C>G (p.Asn341Lys)
1g.21575914C>TCA416533523ALPLc.1179C>T (p.Asn393=)
n.448C>T
c.254C>T
c.948C>T (p.Asn316=)
c.1014C>T (p.Asn338=)
c.1023C>T (p.Asn341=)
1g.21575916_21575917delCA338881513ALPLc.1181_1182del (p.Ser394TyrfsTer10)
n.450_451del
c.256_257del
c.950_951del (p.Ser317TyrfsTer10)
c.1016_1017del (p.Ser339TyrfsTer10)
c.1025_1026del (p.Ser342TyrfsTer10)
 ClinVar dbSNP gnomAD v4
1g.21575916_21575921delCA658820992ALPLc.1181_1186del (p.Ser394_Ile395del)
n.450_455del
c.256_261del
c.950_955del (p.Ser317_Ile318del)
c.1016_1021del (p.Ser339_Ile340del)
c.1025_1030del (p.Ser342_Ile343del)
 ClinVar dbSNP
1g.21575915T>ACA338881514ALPLc.1180T>A (p.Ser394Thr)
n.449T>A
c.255T>A
c.949T>A (p.Ser317Thr)
c.1015T>A (p.Ser339Thr)
c.1024T>A (p.Ser342Thr)
1g.21575915T>CCA338881515ALPLc.1180T>C (p.Ser394Pro)
n.449T>C
c.255T>C
c.949T>C (p.Ser317Pro)
c.1015T>C (p.Ser339Pro)
c.1024T>C (p.Ser342Pro)
1g.21575915T>GCA338881517ALPLc.1180T>G (p.Ser394Ala)
n.449T>G
c.255T>G
c.949T>G (p.Ser317Ala)
c.1015T>G (p.Ser339Ala)
c.1024T>G (p.Ser342Ala)
1g.21575916C>ACA338881519ALPLc.1181C>A (p.Ser394Tyr)
n.450C>A
c.256C>A
c.950C>A (p.Ser317Tyr)
c.1016C>A (p.Ser339Tyr)
c.1025C>A (p.Ser342Tyr)
1g.21575916C=CA1158019346ALPLc.1181C= (p.Ser394=)
n.450C=
c.256C=
c.950C= (p.Ser317=)
c.1016C= (p.Ser339=)
c.1025C= (p.Ser342=)
1g.21575916C>GCA338881521ALPLc.1181C>G (p.Ser394Cys)
n.450C>G
c.256C>G
c.950C>G (p.Ser317Cys)
c.1016C>G (p.Ser339Cys)
c.1025C>G (p.Ser342Cys)
1g.21575916C>TCA338881522ALPLc.1181C>T (p.Ser394Phe)
n.450C>T
c.256C>T
c.950C>T (p.Ser317Phe)
c.1016C>T (p.Ser339Phe)
c.1025C>T (p.Ser342Phe)
 gnomAD v4
1g.21575917T>ACA416533533ALPLc.1182T>A (p.Ser394=)
n.451T>A
c.257T>A
c.951T>A (p.Ser317=)
c.1017T>A (p.Ser339=)
c.1026T>A (p.Ser342=)
 ClinVar
1g.21575917T>CCA666750ALPLc.1182T>C (p.Ser394=)
n.451T>C
c.257T>C
c.951T>C (p.Ser317=)
c.1017T>C (p.Ser339=)
c.1026T>C (p.Ser342=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21575917T>GCA416533535ALPLc.1182T>G (p.Ser394=)
n.451T>G
c.257T>G
c.951T>G (p.Ser317=)
c.1017T>G (p.Ser339=)
c.1026T>G (p.Ser342=)
1g.21575917T=CA1158019347ALPLc.1182T= (p.Ser394=)
n.451T=
c.257T=
c.951T= (p.Ser317=)
c.1017T= (p.Ser339=)
c.1026T= (p.Ser342=)
1g.21575917dupCA666749ALPLc.1182dup (p.Ile395TyrfsTer10)
n.451dup
c.257dup
c.951dup (p.Ile318TyrfsTer10)
c.1017dup (p.Ile340TyrfsTer10)
c.1026dup (p.Ile343TyrfsTer10)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575918A=CA1158019348ALPLc.1183A= (p.Ile395=)
n.452A=
c.258A=
c.952A= (p.Ile318=)
c.1018A= (p.Ile340=)
c.1027A= (p.Ile343=)
1g.21575918A>CCA338881525ALPLc.1183A>C (p.Ile395Leu)
n.452A>C
c.258A>C
c.952A>C (p.Ile318Leu)
c.1018A>C (p.Ile340Leu)
c.1027A>C (p.Ile343Leu)
1g.21575918A>GCA666751ALPLc.1183A>G (p.Ile395Val)
n.452A>G
c.258A>G
c.952A>G (p.Ile318Val)
c.1018A>G (p.Ile340Val)
c.1027A>G (p.Ile343Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21575918A>TCA338881527ALPLc.1183A>T (p.Ile395Phe)
n.452A>T
c.258A>T
c.952A>T (p.Ile318Phe)
c.1018A>T (p.Ile340Phe)
c.1027A>T (p.Ile343Phe)
 ClinVar dbSNP
1g.21575919T>ACA338881529ALPLc.1184T>A (p.Ile395Asn)
n.453T>A
c.259T>A
c.953T>A (p.Ile318Asn)
c.1019T>A (p.Ile340Asn)
c.1028T>A (p.Ile343Asn)
1g.21575919T>CCA19070423ALPLc.1184T>C (p.Ile395Thr)
n.453T>C
c.259T>C
c.953T>C (p.Ile318Thr)
c.1019T>C (p.Ile340Thr)
c.1028T>C (p.Ile343Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21575919T>GCA338881531ALPLc.1184T>G (p.Ile395Ser)
n.453T>G
c.259T>G
c.953T>G (p.Ile318Ser)
c.1019T>G (p.Ile340Ser)
c.1028T>G (p.Ile343Ser)
1g.21575919T=CA1158019349ALPLc.1184T= (p.Ile395=)
n.453T=
c.259T=
c.953T= (p.Ile318=)
c.1019T= (p.Ile340=)
c.1028T= (p.Ile343=)
1g.21575920_21575923delCA2697552239ALPLc.1185_1188del (p.Ile395MetfsTer7)
n.454_457del
c.260_263del
c.954_957del (p.Ile318MetfsTer7)
c.1020_1023del (p.Ile340MetfsTer7)
c.1029_1032del (p.Ile343MetfsTer7)
 ClinVar
1g.21575920C>ACA416533549ALPLc.1185C>A (p.Ile395=)
n.454C>A
c.260C>A
c.954C>A (p.Ile318=)
c.1020C>A (p.Ile340=)
c.1029C>A (p.Ile343=)
 gnomAD v4
1g.21575920C>GCA338881532ALPLc.1185C>G (p.Ile395Met)
n.454C>G
c.260C>G
c.954C>G (p.Ile318Met)
c.1020C>G (p.Ile340Met)
c.1029C>G (p.Ile343Met)
1g.21575920C>TCA416533547ALPLc.1185C>T (p.Ile395=)
n.454C>T
c.260C>T
c.954C>T (p.Ile318=)
c.1020C>T (p.Ile340=)
c.1029C>T (p.Ile343=)
1g.21575921T>ACA338881534ALPLc.1186T>A (p.Phe396Ile)
n.455T>A
c.261T>A
c.955T>A (p.Phe319Ile)
c.1021T>A (p.Phe341Ile)
c.1030T>A (p.Phe344Ile)
1g.21575921T>CCA338881535ALPLc.1186T>C (p.Phe396Leu)
n.455T>C
c.261T>C
c.955T>C (p.Phe319Leu)
c.1021T>C (p.Phe341Leu)
c.1030T>C (p.Phe344Leu)
 COSMIC
1g.21575921T>GCA338881536ALPLc.1186T>G (p.Phe396Val)
n.455T>G
c.261T>G
c.955T>G (p.Phe319Val)
c.1021T>G (p.Phe341Val)
c.1030T>G (p.Phe344Val)
1g.21575922T>ACA338881538ALPLc.1187T>A (p.Phe396Tyr)
n.456T>A
c.262T>A
c.956T>A (p.Phe319Tyr)
c.1022T>A (p.Phe341Tyr)
c.1031T>A (p.Phe344Tyr)
1g.21575922T>CCA338881539ALPLc.1187T>C (p.Phe396Ser)
n.456T>C
c.262T>C
c.956T>C (p.Phe319Ser)
c.1022T>C (p.Phe341Ser)
c.1031T>C (p.Phe344Ser)
1g.21575922T>GCA338881541ALPLc.1187T>G (p.Phe396Cys)
n.456T>G
c.262T>G
c.956T>G (p.Phe319Cys)
c.1022T>G (p.Phe341Cys)
c.1031T>G (p.Phe344Cys)
1g.21575923T>ACA338881542ALPLc.1188T>A (p.Phe396Leu)
n.457T>A
c.263T>A
c.957T>A (p.Phe319Leu)
c.1023T>A (p.Phe341Leu)
c.1032T>A (p.Phe344Leu)
1g.21575923T>CCA416533558ALPLc.1188T>C (p.Phe396=)
n.457T>C
c.263T>C
c.957T>C (p.Phe319=)
c.1023T>C (p.Phe341=)
c.1032T>C (p.Phe344=)
1g.21575923T>GCA338881545ALPLc.1188T>G (p.Phe396Leu)
n.457T>G
c.263T>G
c.957T>G (p.Phe319Leu)
c.1023T>G (p.Phe341Leu)
c.1032T>G (p.Phe344Leu)

Number of alleles fetched