UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490037G>A | CA340297 | AIP | c.446-1G>A c.280-1G>A (n.280-1G>A) n.980G>A c.468+582G>A (n.468+582G>A) c.100-1G>A (n.100-1G>A) c.469-1G>A (n.469-1G>A) c.292-1G>A (n.292-1G>A) c.289-1G>A (n.289-1G>A) c.121-1G>A (n.121-1G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490037G>C | CA381550221 | AIP | c.446-1G>C c.280-1G>C (n.280-1G>C) n.980G>C c.468+582G>C (n.468+582G>C) c.100-1G>C (n.100-1G>C) c.469-1G>C (n.469-1G>C) c.292-1G>C (n.292-1G>C) c.289-1G>C (n.289-1G>C) c.121-1G>C (n.121-1G>C) | |
| 11 | g.67490037G= | CA1980172264 | AIP | c.446-1G= c.280-1G= (n.280-1G=) n.980G= c.468+582G= (n.468+582G=) c.100-1G= (n.100-1G=) c.469-1G= (n.469-1G=) c.292-1G= (n.292-1G=) c.289-1G= (n.289-1G=) c.121-1G= (n.121-1G=) | |
| 11 | g.67490037G>T | CA381550219 | AIP | c.446-1G>T c.280-1G>T (n.280-1G>T) n.980G>T c.468+582G>T (n.468+582G>T) c.100-1G>T (n.100-1G>T) c.469-1G>T (n.469-1G>T) c.292-1G>T (n.292-1G>T) c.289-1G>T (n.289-1G>T) c.121-1G>T (n.121-1G>T) | gnomAD v4 |
| 11 | g.67490038G>A | CA381550222 | AIP | c.446G>A c.280G>A (p.Val94Met) n.981G>A c.468+583G>A (n.468+583G>A) c.100G>A (p.Val34Met) c.469G>A (p.Val157Met) c.292G>A (p.Val98Met) c.289G>A (p.Val97Met) c.121G>A (p.Val41Met) | ClinVar gnomAD v4 |
| 11 | g.67490038G>C | CA381550226 | AIP | c.446G>C c.280G>C (p.Val94Leu) n.981G>C c.468+583G>C (n.468+583G>C) c.100G>C (p.Val34Leu) c.469G>C (p.Val157Leu) c.292G>C (p.Val98Leu) c.289G>C (p.Val97Leu) c.121G>C (p.Val41Leu) | |
| 11 | g.67490038G>T | CA381550224 | AIP | c.446G>T c.280G>T (p.Val94Leu) n.981G>T c.468+583G>T (n.468+583G>T) c.100G>T (p.Val34Leu) c.469G>T (p.Val157Leu) c.292G>T (p.Val98Leu) c.289G>T (p.Val97Leu) c.121G>T (p.Val41Leu) | |
| 11 | g.67490039T>A | CA381550229 | AIP | c.447T>A c.281T>A (p.Val94Glu) n.982T>A c.468+584T>A (n.468+584T>A) c.101T>A (p.Val34Glu) c.470T>A (p.Val157Glu) c.293T>A (p.Val98Glu) c.290T>A (p.Val97Glu) c.122T>A (p.Val41Glu) | ClinVar |
| 11 | g.67490039T>C | CA381550231 | AIP | c.447T>C c.281T>C (p.Val94Ala) n.982T>C c.468+584T>C (n.468+584T>C) c.101T>C (p.Val34Ala) c.470T>C (p.Val157Ala) c.293T>C (p.Val98Ala) c.290T>C (p.Val97Ala) c.122T>C (p.Val41Ala) | |
| 11 | g.67490039T>G | CA381550233 | AIP | c.447T>G c.281T>G (p.Val94Gly) n.982T>G c.468+584T>G (n.468+584T>G) c.101T>G (p.Val34Gly) c.470T>G (p.Val157Gly) c.293T>G (p.Val98Gly) c.290T>G (p.Val97Gly) c.122T>G (p.Val41Gly) | |
| 11 | g.67490040G>A | CA475509104 | AIP | c.448G>A c.282G>A (p.Val94=) n.983G>A c.468+585G>A (n.468+585G>A) c.102G>A (p.Val34=) c.471G>A (p.Val157=) c.294G>A (p.Val98=) c.291G>A (p.Val97=) c.123G>A (p.Val41=) | gnomAD v4 |
| 11 | g.67490040G>C | CA475509105 | AIP | c.448G>C c.282G>C (p.Val94=) n.983G>C c.468+585G>C (n.468+585G>C) c.102G>C (p.Val34=) c.471G>C (p.Val157=) c.294G>C (p.Val98=) c.291G>C (p.Val97=) c.123G>C (p.Val41=) | |
| 11 | g.67490040G>T | CA475509106 | AIP | c.448G>T c.282G>T (p.Val94=) n.983G>T c.468+585G>T (n.468+585G>T) c.102G>T (p.Val34=) c.471G>T (p.Val157=) c.294G>T (p.Val98=) c.291G>T (p.Val97=) c.123G>T (p.Val41=) | |
| 11 | g.67490041G>A | CA381550234 | AIP | c.449G>A c.283G>A (p.Glu95Lys) n.984G>A c.468+586G>A (n.468+586G>A) c.103G>A (p.Glu35Lys) c.472G>A (p.Glu158Lys) c.295G>A (p.Glu99Lys) c.292G>A (p.Glu98Lys) c.124G>A (p.Glu42Lys) | |
| 11 | g.67490041G>C | CA381550235 | AIP | c.449G>C c.283G>C (p.Glu95Gln) n.984G>C c.468+586G>C (n.468+586G>C) c.103G>C (p.Glu35Gln) c.472G>C (p.Glu158Gln) c.295G>C (p.Glu99Gln) c.292G>C (p.Glu98Gln) c.124G>C (p.Glu42Gln) | |
| 11 | g.67490041G>T | CA381550236 | AIP | c.449G>T c.283G>T (p.Glu95Ter) n.984G>T c.468+586G>T (n.468+586G>T) c.103G>T (p.Glu35Ter) c.472G>T (p.Glu158Ter) c.295G>T (p.Glu99Ter) c.292G>T (p.Glu98Ter) c.124G>T (p.Glu42Ter) | |
| 11 | g.67490042A>C | CA381550237 | AIP | c.450A>C c.284A>C (p.Glu95Ala) n.985A>C c.468+587A>C (n.468+587A>C) c.104A>C (p.Glu35Ala) c.473A>C (p.Glu158Ala) c.296A>C (p.Glu99Ala) c.293A>C (p.Glu98Ala) c.125A>C (p.Glu42Ala) | |
| 11 | g.67490042A>G | CA381550240 | AIP | c.450A>G c.284A>G (p.Glu95Gly) n.985A>G c.468+587A>G (n.468+587A>G) c.104A>G (p.Glu35Gly) c.473A>G (p.Glu158Gly) c.296A>G (p.Glu99Gly) c.293A>G (p.Glu98Gly) c.125A>G (p.Glu42Gly) | gnomAD v4 |
| 11 | g.67490042A>T | CA381550242 | AIP | c.450A>T c.284A>T (p.Glu95Val) n.985A>T c.468+587A>T (n.468+587A>T) c.104A>T (p.Glu35Val) c.473A>T (p.Glu158Val) c.296A>T (p.Glu99Val) c.293A>T (p.Glu98Val) c.125A>T (p.Glu42Val) | |
| 11 | g.67490043G>A | CA475509110 | AIP | c.451G>A c.285G>A (p.Glu95=) n.986G>A c.468+588G>A (n.468+588G>A) c.105G>A (p.Glu35=) c.474G>A (p.Glu158=) c.297G>A (p.Glu99=) c.294G>A (p.Glu98=) c.126G>A (p.Glu42=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490043G>C | CA381550246 | AIP | c.451G>C c.285G>C (p.Glu95Asp) n.986G>C c.468+588G>C (n.468+588G>C) c.105G>C (p.Glu35Asp) c.474G>C (p.Glu158Asp) c.297G>C (p.Glu99Asp) c.294G>C (p.Glu98Asp) c.126G>C (p.Glu42Asp) | ClinVar gnomAD v4 |
| 11 | g.67490043G= | CA1980172265 | AIP | c.451G= c.285G= (p.Glu95=) n.986G= c.468+588G= (n.468+588G=) c.105G= (p.Glu35=) c.474G= (p.Glu158=) c.297G= (p.Glu99=) c.294G= (p.Glu98=) c.126G= (p.Glu42=) | |
| 11 | g.67490043G>T | CA381550248 | AIP | c.451G>T c.285G>T (p.Glu95Asp) n.986G>T c.468+588G>T (n.468+588G>T) c.105G>T (p.Glu35Asp) c.474G>T (p.Glu158Asp) c.297G>T (p.Glu99Asp) c.294G>T (p.Glu98Asp) c.126G>T (p.Glu42Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490044A>C | CA381550256 | AIP | c.452A>C c.286A>C (p.Ser96Arg) n.987A>C c.468+589A>C (n.468+589A>C) c.106A>C (p.Ser36Arg) c.475A>C (p.Ser159Arg) c.298A>C (p.Ser100Arg) c.295A>C (p.Ser99Arg) c.127A>C (p.Ser43Arg) | |
| 11 | g.67490044A>G | CA381550255 | AIP | c.452A>G c.286A>G (p.Ser96Gly) n.987A>G c.468+589A>G (n.468+589A>G) c.106A>G (p.Ser36Gly) c.475A>G (p.Ser159Gly) c.298A>G (p.Ser100Gly) c.295A>G (p.Ser99Gly) c.127A>G (p.Ser43Gly) | |
| 11 | g.67490044A>T | CA381550253 | AIP | c.452A>T c.286A>T (p.Ser96Cys) n.987A>T c.468+589A>T (n.468+589A>T) c.106A>T (p.Ser36Cys) c.475A>T (p.Ser159Cys) c.298A>T (p.Ser100Cys) c.295A>T (p.Ser99Cys) c.127A>T (p.Ser43Cys) | |
| 11 | g.67490045G>A | CA6140857 | AIP | c.453G>A c.287G>A (p.Ser96Asn) n.988G>A c.468+590G>A (n.468+590G>A) c.107G>A (p.Ser36Asn) c.476G>A (p.Ser159Asn) c.299G>A (p.Ser100Asn) c.296G>A (p.Ser99Asn) c.128G>A (p.Ser43Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490045G>C | CA381550271 | AIP | c.453G>C c.287G>C (p.Ser96Thr) n.988G>C c.468+590G>C (n.468+590G>C) c.107G>C (p.Ser36Thr) c.476G>C (p.Ser159Thr) c.299G>C (p.Ser100Thr) c.296G>C (p.Ser99Thr) c.128G>C (p.Ser43Thr) | |
| 11 | g.67490045G= | CA1980172266 | AIP | c.453G= c.287G= (p.Ser96=) n.988G= c.468+590G= (n.468+590G=) c.107G= (p.Ser36=) c.476G= (p.Ser159=) c.299G= (p.Ser100=) c.296G= (p.Ser99=) c.128G= (p.Ser43=) | |
| 11 | g.67490045G>T | CA381550275 | AIP | c.453G>T c.287G>T (p.Ser96Ile) n.988G>T c.468+590G>T (n.468+590G>T) c.107G>T (p.Ser36Ile) c.476G>T (p.Ser159Ile) c.299G>T (p.Ser100Ile) c.296G>T (p.Ser99Ile) c.128G>T (p.Ser43Ile) | |
| 11 | g.67490046C>A | CA381550278 | AIP | c.454C>A c.288C>A (p.Ser96Arg) n.989C>A c.468+591C>A (n.468+591C>A) c.108C>A (p.Ser36Arg) c.477C>A (p.Ser159Arg) c.300C>A (p.Ser100Arg) c.297C>A (p.Ser99Arg) c.129C>A (p.Ser43Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490046C= | CA1980172267 | AIP | c.454C= c.288C= (p.Ser96=) n.989C= c.468+591C= (n.468+591C=) c.108C= (p.Ser36=) c.477C= (p.Ser159=) c.300C= (p.Ser100=) c.297C= (p.Ser99=) c.129C= (p.Ser43=) | |
| 11 | g.67490046C>G | CA381550279 | AIP | c.454C>G c.288C>G (p.Ser96Arg) n.989C>G c.468+591C>G (n.468+591C>G) c.108C>G (p.Ser36Arg) c.477C>G (p.Ser159Arg) c.300C>G (p.Ser100Arg) c.297C>G (p.Ser99Arg) c.129C>G (p.Ser43Arg) | |
| 11 | g.67490046C>T | CA475509115 | AIP | c.454C>T c.288C>T (p.Ser96=) n.989C>T c.468+591C>T (n.468+591C>T) c.108C>T (p.Ser36=) c.477C>T (p.Ser159=) c.300C>T (p.Ser100=) c.297C>T (p.Ser99=) c.129C>T (p.Ser43=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490047C>A | CA381550280 | AIP | c.455C>A c.289C>A (p.Pro97Thr) n.990C>A c.468+592C>A (n.468+592C>A) c.109C>A (p.Pro37Thr) c.478C>A (p.Pro160Thr) c.301C>A (p.Pro101Thr) c.298C>A (p.Pro100Thr) c.130C>A (p.Pro44Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490047C= | CA1980172268 | AIP | c.455C= c.289C= (p.Pro97=) n.990C= c.468+592C= (n.468+592C=) c.109C= (p.Pro37=) c.478C= (p.Pro160=) c.301C= (p.Pro101=) c.298C= (p.Pro100=) c.130C= (p.Pro44=) | |
| 11 | g.67490047C>G | CA381550282 | AIP | c.455C>G c.289C>G (p.Pro97Ala) n.990C>G c.468+592C>G (n.468+592C>G) c.109C>G (p.Pro37Ala) c.478C>G (p.Pro160Ala) c.301C>G (p.Pro101Ala) c.298C>G (p.Pro100Ala) c.130C>G (p.Pro44Ala) | |
| 11 | g.67490047C>T | CA381550284 | AIP | c.455C>T c.289C>T (p.Pro97Ser) n.990C>T c.468+592C>T (n.468+592C>T) c.109C>T (p.Pro37Ser) c.478C>T (p.Pro160Ser) c.301C>T (p.Pro101Ser) c.298C>T (p.Pro100Ser) c.130C>T (p.Pro44Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490048C>A | CA381550286 | AIP | c.456C>A c.290C>A (p.Pro97His) n.991C>A c.468+593C>A (n.468+593C>A) c.110C>A (p.Pro37His) c.479C>A (p.Pro160His) c.302C>A (p.Pro101His) c.299C>A (p.Pro100His) c.131C>A (p.Pro44His) | gnomAD v4 |
| 11 | g.67490048C= | CA1980172269 | AIP | c.456C= c.290C= (p.Pro97=) n.991C= c.468+593C= (n.468+593C=) c.110C= (p.Pro37=) c.479C= (p.Pro160=) c.302C= (p.Pro101=) c.299C= (p.Pro100=) c.131C= (p.Pro44=) | |
| 11 | g.67490048C>G | CA6140858 | AIP | c.456C>G c.290C>G (p.Pro97Arg) n.991C>G c.468+593C>G (n.468+593C>G) c.110C>G (p.Pro37Arg) c.479C>G (p.Pro160Arg) c.302C>G (p.Pro101Arg) c.299C>G (p.Pro100Arg) c.131C>G (p.Pro44Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490048C>T | CA381550290 | AIP | c.456C>T c.290C>T (p.Pro97Leu) n.991C>T c.468+593C>T (n.468+593C>T) c.110C>T (p.Pro37Leu) c.479C>T (p.Pro160Leu) c.302C>T (p.Pro101Leu) c.299C>T (p.Pro100Leu) c.131C>T (p.Pro44Leu) | |
| 11 | g.67490049T>A | CA475509118 | AIP | c.457T>A c.291T>A (p.Pro97=) n.992T>A c.468+594T>A (n.468+594T>A) c.111T>A (p.Pro37=) c.480T>A (p.Pro160=) c.303T>A (p.Pro101=) c.300T>A (p.Pro100=) c.132T>A (p.Pro44=) | gnomAD v4 |
| 11 | g.67490049T>C | CA475509120 | AIP | c.457T>C c.291T>C (p.Pro97=) n.992T>C c.468+594T>C (n.468+594T>C) c.111T>C (p.Pro37=) c.480T>C (p.Pro160=) c.303T>C (p.Pro101=) c.300T>C (p.Pro100=) c.132T>C (p.Pro44=) | |
| 11 | g.67490049T>G | CA475509119 | AIP | c.457T>G c.291T>G (p.Pro97=) n.992T>G c.468+594T>G (n.468+594T>G) c.111T>G (p.Pro37=) c.480T>G (p.Pro160=) c.303T>G (p.Pro101=) c.300T>G (p.Pro100=) c.132T>G (p.Pro44=) | |
| 11 | g.67490050G>A | CA381550299 | AIP | c.458G>A c.292G>A (p.Gly98Ser) n.993G>A c.468+595G>A (n.468+595G>A) c.112G>A (p.Gly38Ser) c.481G>A (p.Gly161Ser) c.304G>A (p.Gly102Ser) c.301G>A (p.Gly101Ser) c.133G>A (p.Gly45Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490050G>C | CA224164905 | AIP | c.458G>C c.292G>C (p.Gly98Arg) n.993G>C c.468+595G>C (n.468+595G>C) c.112G>C (p.Gly38Arg) c.481G>C (p.Gly161Arg) c.304G>C (p.Gly102Arg) c.301G>C (p.Gly101Arg) c.133G>C (p.Gly45Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490050G= | CA1980172270 | AIP | c.458G= c.292G= (p.Gly98=) n.993G= c.468+595G= (n.468+595G=) c.112G= (p.Gly38=) c.481G= (p.Gly161=) c.304G= (p.Gly102=) c.301G= (p.Gly101=) c.133G= (p.Gly45=) | |
| 11 | g.67490050G>T | CA381550294 | AIP | c.458G>T c.292G>T (p.Gly98Cys) n.993G>T c.468+595G>T (n.468+595G>T) c.112G>T (p.Gly38Cys) c.481G>T (p.Gly161Cys) c.304G>T (p.Gly102Cys) c.301G>T (p.Gly101Cys) c.133G>T (p.Gly45Cys) | |
| 11 | g.67490051del | CA2724392179 | AIP | c.459del c.293del (p.Gly98AlafsTer10) n.994del c.468+596del (n.468+596del) c.113del (p.Gly38AlafsTer10) c.482del (p.Gly161AlafsTer10) c.305del (p.Gly102AlafsTer10) c.302del (p.Gly101AlafsTer10) c.134del (p.Gly45AlafsTer10) | dbSNP |
| 11 | g.67490051G>A | CA381550304 | AIP | c.459G>A c.293G>A (p.Gly98Asp) n.994G>A c.468+596G>A (n.468+596G>A) c.113G>A (p.Gly38Asp) c.482G>A (p.Gly161Asp) c.305G>A (p.Gly102Asp) c.302G>A (p.Gly101Asp) c.134G>A (p.Gly45Asp) | COSMIC |
| 11 | g.67490051G>C | CA381550308 | AIP | c.459G>C c.293G>C (p.Gly98Ala) n.994G>C c.468+596G>C (n.468+596G>C) c.113G>C (p.Gly38Ala) c.482G>C (p.Gly161Ala) c.305G>C (p.Gly102Ala) c.302G>C (p.Gly101Ala) c.134G>C (p.Gly45Ala) | ClinVar dbSNP |
| 11 | g.67490051G>T | CA381550315 | AIP | c.459G>T c.293G>T (p.Gly98Val) n.994G>T c.468+596G>T (n.468+596G>T) c.113G>T (p.Gly38Val) c.482G>T (p.Gly161Val) c.305G>T (p.Gly102Val) c.302G>T (p.Gly101Val) c.134G>T (p.Gly45Val) | |
| 11 | g.67490052C>A | CA475509125 | AIP | c.460C>A c.294C>A (p.Gly98=) n.995C>A c.468+597C>A (n.468+597C>A) c.114C>A (p.Gly38=) c.483C>A (p.Gly161=) c.306C>A (p.Gly102=) c.303C>A (p.Gly101=) c.135C>A (p.Gly45=) | gnomAD v4 |
| 11 | g.67490052C>G | CA475509126 | AIP | c.460C>G c.294C>G (p.Gly98=) n.995C>G c.468+597C>G (n.468+597C>G) c.114C>G (p.Gly38=) c.483C>G (p.Gly161=) c.306C>G (p.Gly102=) c.303C>G (p.Gly101=) c.135C>G (p.Gly45=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490052C>T | CA475509127 | AIP | c.460C>T c.294C>T (p.Gly98=) n.995C>T c.468+597C>T (n.468+597C>T) c.114C>T (p.Gly38=) c.483C>T (p.Gly161=) c.306C>T (p.Gly102=) c.303C>T (p.Gly101=) c.135C>T (p.Gly45=) | ClinVar gnomAD v4 |
| 11 | g.67490053A>C | CA381550317 | AIP | c.461A>C c.295A>C (p.Thr99Pro) n.996A>C c.468+598A>C (n.468+598A>C) c.115A>C (p.Thr39Pro) c.484A>C (p.Thr162Pro) c.307A>C (p.Thr103Pro) c.304A>C (p.Thr102Pro) c.136A>C (p.Thr46Pro) | |
| 11 | g.67490053A>G | CA381550318 | AIP | c.461A>G c.295A>G (p.Thr99Ala) n.996A>G c.468+598A>G (n.468+598A>G) c.115A>G (p.Thr39Ala) c.484A>G (p.Thr162Ala) c.307A>G (p.Thr103Ala) c.304A>G (p.Thr102Ala) c.136A>G (p.Thr46Ala) | ClinVar gnomAD v4 |
| 11 | g.67490053A>T | CA381550319 | AIP | c.461A>T c.295A>T (p.Thr99Ser) n.996A>T c.468+598A>T (n.468+598A>T) c.115A>T (p.Thr39Ser) c.484A>T (p.Thr162Ser) c.307A>T (p.Thr103Ser) c.304A>T (p.Thr102Ser) c.136A>T (p.Thr46Ser) | |
| 11 | g.67490054C>A | CA381550320 | AIP | c.462C>A c.296C>A (p.Thr99Lys) n.997C>A c.468+599C>A (n.468+599C>A) c.116C>A (p.Thr39Lys) c.485C>A (p.Thr162Lys) c.308C>A (p.Thr103Lys) c.305C>A (p.Thr102Lys) c.137C>A (p.Thr46Lys) | dbSNP gnomAD v4 |
| 11 | g.67490054C= | CA1980172271 | AIP | c.462C= c.296C= (p.Thr99=) n.997C= c.468+599C= (n.468+599C=) c.116C= (p.Thr39=) c.485C= (p.Thr162=) c.308C= (p.Thr103=) c.305C= (p.Thr102=) c.137C= (p.Thr46=) | |
| 11 | g.67490054C>G | CA381550323 | AIP | c.462C>G c.296C>G (p.Thr99Arg) n.997C>G c.468+599C>G (n.468+599C>G) c.116C>G (p.Thr39Arg) c.485C>G (p.Thr162Arg) c.308C>G (p.Thr103Arg) c.305C>G (p.Thr102Arg) c.137C>G (p.Thr46Arg) | |
| 11 | g.67490054C>T | CA224164910 | AIP | c.462C>T c.296C>T (p.Thr99Met) n.997C>T c.468+599C>T (n.468+599C>T) c.116C>T (p.Thr39Met) c.485C>T (p.Thr162Met) c.308C>T (p.Thr103Met) c.305C>T (p.Thr102Met) c.137C>T (p.Thr46Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490055G>A | CA6140859 | AIP | c.463G>A c.297G>A (p.Thr99=) n.998G>A c.468+600G>A (n.468+600G>A) c.117G>A (p.Thr39=) c.486G>A (p.Thr162=) c.309G>A (p.Thr103=) c.306G>A (p.Thr102=) c.138G>A (p.Thr46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490055G>C | CA475509131 | AIP | c.463G>C c.297G>C (p.Thr99=) n.998G>C c.468+600G>C (n.468+600G>C) c.117G>C (p.Thr39=) c.486G>C (p.Thr162=) c.309G>C (p.Thr103=) c.306G>C (p.Thr102=) c.138G>C (p.Thr46=) | ClinVar |
| 11 | g.67490055G= | CA1980172272 | AIP | c.463G= c.297G= (p.Thr99=) n.998G= c.468+600G= (n.468+600G=) c.117G= (p.Thr39=) c.486G= (p.Thr162=) c.309G= (p.Thr103=) c.306G= (p.Thr102=) c.138G= (p.Thr46=) | |
| 11 | g.67490055G>T | CA475509132 | AIP | c.463G>T c.297G>T (p.Thr99=) n.998G>T c.468+600G>T (n.468+600G>T) c.117G>T (p.Thr39=) c.486G>T (p.Thr162=) c.309G>T (p.Thr103=) c.306G>T (p.Thr102=) c.138G>T (p.Thr46=) | |
| 11 | g.67490056T>A | CA381550331 | AIP | c.464T>A c.298T>A (p.Tyr100Asn) n.999T>A c.468+601T>A (n.468+601T>A) c.118T>A (p.Tyr40Asn) c.487T>A (p.Tyr163Asn) c.310T>A (p.Tyr104Asn) c.307T>A (p.Tyr103Asn) c.139T>A (p.Tyr47Asn) | |
| 11 | g.67490056T>C | CA381550337 | AIP | c.464T>C c.298T>C (p.Tyr100His) n.999T>C c.468+601T>C (n.468+601T>C) c.118T>C (p.Tyr40His) c.487T>C (p.Tyr163His) c.310T>C (p.Tyr104His) c.307T>C (p.Tyr103His) c.139T>C (p.Tyr47His) | |
| 11 | g.67490056T>G | CA381550338 | AIP | c.464T>G c.298T>G (p.Tyr100Asp) n.999T>G c.468+601T>G (n.468+601T>G) c.118T>G (p.Tyr40Asp) c.487T>G (p.Tyr163Asp) c.310T>G (p.Tyr104Asp) c.307T>G (p.Tyr103Asp) c.139T>G (p.Tyr47Asp) | |
| 11 | g.67490056_67490065delinsTACCAGCAGG | CA1980172273 | AIP | c.464_473delinsTACCAGCAGG c.298_307delinsTACCAGCAGG (p.Tyr100=) n.999_1008delinsTACCAGCAGG c.468+601_468+610delinsTACCAGCAGG (n.468+601_468+610delinsTACCAGCAGG) c.118_127delinsTACCAGCAGG (p.Tyr40=) c.487_496delinsTACCAGCAGG (p.Tyr163=) c.310_319delinsTACCAGCAGG (p.Tyr104=) c.307_316delinsTACCAGCAGG (p.Tyr103=) c.139_148delinsTACCAGCAGG (p.Tyr47=) | |
| 11 | g.67490057A>C | CA381550342 | AIP | c.465A>C c.299A>C (p.Tyr100Ser) n.1000A>C c.468+602A>C (n.468+602A>C) c.119A>C (p.Tyr40Ser) c.488A>C (p.Tyr163Ser) c.311A>C (p.Tyr104Ser) c.308A>C (p.Tyr103Ser) c.140A>C (p.Tyr47Ser) | |
| 11 | g.67490057A>G | CA381550339 | AIP | c.465A>G c.299A>G (p.Tyr100Cys) n.1000A>G c.468+602A>G (n.468+602A>G) c.119A>G (p.Tyr40Cys) c.488A>G (p.Tyr163Cys) c.311A>G (p.Tyr104Cys) c.308A>G (p.Tyr103Cys) c.140A>G (p.Tyr47Cys) | |
| 11 | g.67490057A>T | CA381550341 | AIP | c.465A>T c.299A>T (p.Tyr100Phe) n.1000A>T c.468+602A>T (n.468+602A>T) c.119A>T (p.Tyr40Phe) c.488A>T (p.Tyr163Phe) c.311A>T (p.Tyr104Phe) c.308A>T (p.Tyr103Phe) c.140A>T (p.Tyr47Phe) | gnomAD v4 |
| 11 | g.67490060_67490068del | CA1980172274 | AIP | c.468_476del c.302_310del (p.Gln101_Asp103del) n.1003_1011del c.468+605_468+613del (n.468+605_468+613del) c.122_130del (p.Gln41_Asp43del) c.491_499del (p.Gln164_Asp166del) c.314_322del (p.Gln105_Asp107del) c.311_319del (p.Gln104_Asp106del) c.143_151del (p.Gln48_Asp50del) | dbSNP |
| 11 | g.67490058C>A | CA381550346 | AIP | c.466C>A c.300C>A (p.Tyr100Ter) n.1001C>A c.468+603C>A (n.468+603C>A) c.120C>A (p.Tyr40Ter) c.489C>A (p.Tyr163Ter) c.312C>A (p.Tyr104Ter) c.309C>A (p.Tyr103Ter) c.141C>A (p.Tyr47Ter) | |
| 11 | g.67490058C>G | CA381550353 | AIP | c.466C>G c.300C>G (p.Tyr100Ter) n.1001C>G c.468+603C>G (n.468+603C>G) c.120C>G (p.Tyr40Ter) c.489C>G (p.Tyr163Ter) c.312C>G (p.Tyr104Ter) c.309C>G (p.Tyr103Ter) c.141C>G (p.Tyr47Ter) | |
| 11 | g.67490058C>T | CA475509134 | AIP | c.466C>T c.300C>T (p.Tyr100=) n.1001C>T c.468+603C>T (n.468+603C>T) c.120C>T (p.Tyr40=) c.489C>T (p.Tyr163=) c.312C>T (p.Tyr104=) c.309C>T (p.Tyr103=) c.141C>T (p.Tyr47=) | ClinVar dbSNP |
| 11 | g.67490059C>A | CA381550364 | AIP | c.467C>A c.301C>A (p.Gln101Lys) n.1002C>A c.468+604C>A (n.468+604C>A) c.121C>A (p.Gln41Lys) c.490C>A (p.Gln164Lys) c.313C>A (p.Gln105Lys) c.310C>A (p.Gln104Lys) c.142C>A (p.Gln48Lys) | |
| 11 | g.67490059C= | CA1980172275 | AIP | c.467C= c.301C= (p.Gln101=) n.1002C= c.468+604C= (n.468+604C=) c.121C= (p.Gln41=) c.490C= (p.Gln164=) c.313C= (p.Gln105=) c.310C= (p.Gln104=) c.142C= (p.Gln48=) | |
| 11 | g.67490059C>G | CA381550365 | AIP | c.467C>G c.301C>G (p.Gln101Glu) n.1002C>G c.468+604C>G (n.468+604C>G) c.121C>G (p.Gln41Glu) c.490C>G (p.Gln164Glu) c.313C>G (p.Gln105Glu) c.310C>G (p.Gln104Glu) c.142C>G (p.Gln48Glu) | gnomAD v4 |
| 11 | g.67490059C>T | CA344120 | AIP | c.467C>T c.301C>T (p.Gln101Ter) n.1002C>T c.468+604C>T (n.468+604C>T) c.121C>T (p.Gln41Ter) c.490C>T (p.Gln164Ter) c.313C>T (p.Gln105Ter) c.310C>T (p.Gln104Ter) c.142C>T (p.Gln48Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490060A>C | CA381550371 | AIP | c.468A>C c.302A>C (p.Gln101Pro) n.1003A>C c.468+605A>C (n.468+605A>C) c.122A>C (p.Gln41Pro) c.491A>C (p.Gln164Pro) c.314A>C (p.Gln105Pro) c.311A>C (p.Gln104Pro) c.143A>C (p.Gln48Pro) | |
| 11 | g.67490060A>G | CA381550373 | AIP | c.468A>G c.302A>G (p.Gln101Arg) n.1003A>G c.468+605A>G (n.468+605A>G) c.122A>G (p.Gln41Arg) c.491A>G (p.Gln164Arg) c.314A>G (p.Gln105Arg) c.311A>G (p.Gln104Arg) c.143A>G (p.Gln48Arg) | |
| 11 | g.67490060A>T | CA381550375 | AIP | c.468A>T c.302A>T (p.Gln101Leu) n.1003A>T c.468+605A>T (n.468+605A>T) c.122A>T (p.Gln41Leu) c.491A>T (p.Gln164Leu) c.314A>T (p.Gln105Leu) c.311A>T (p.Gln104Leu) c.143A>T (p.Gln48Leu) | |
| 11 | g.67490061G>A | CA6140860 | AIP | c.469G>A c.303G>A (p.Gln101=) n.1004G>A c.468+606G>A (n.468+606G>A) c.123G>A (p.Gln41=) c.492G>A (p.Gln164=) c.315G>A (p.Gln105=) c.312G>A (p.Gln104=) c.144G>A (p.Gln48=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490061G>C | CA381550378 | AIP | c.469G>C c.303G>C (p.Gln101His) n.1004G>C c.468+606G>C (n.468+606G>C) c.123G>C (p.Gln41His) c.492G>C (p.Gln164His) c.315G>C (p.Gln105His) c.312G>C (p.Gln104His) c.144G>C (p.Gln48His) | |
| 11 | g.67490061G= | CA1980172276 | AIP | c.469G= c.303G= (p.Gln101=) n.1004G= c.468+606G= (n.468+606G=) c.123G= (p.Gln41=) c.492G= (p.Gln164=) c.315G= (p.Gln105=) c.312G= (p.Gln104=) c.144G= (p.Gln48=) | |
| 11 | g.67490061G>T | CA381550387 | AIP | c.469G>T c.303G>T (p.Gln101His) n.1004G>T c.468+606G>T (n.468+606G>T) c.123G>T (p.Gln41His) c.492G>T (p.Gln164His) c.315G>T (p.Gln105His) c.312G>T (p.Gln104His) c.144G>T (p.Gln48His) | |
| 11 | g.67490062C>A | CA381550395 | AIP | c.470C>A c.304C>A (p.Gln102Lys) n.1005C>A c.468+607C>A (n.468+607C>A) c.124C>A (p.Gln42Lys) c.493C>A (p.Gln165Lys) c.316C>A (p.Gln106Lys) c.313C>A (p.Gln105Lys) c.145C>A (p.Gln49Lys) | gnomAD v4 |
| 11 | g.67490062C>G | CA381550392 | AIP | c.470C>G c.304C>G (p.Gln102Glu) n.1005C>G c.468+607C>G (n.468+607C>G) c.124C>G (p.Gln42Glu) c.493C>G (p.Gln165Glu) c.316C>G (p.Gln106Glu) c.313C>G (p.Gln105Glu) c.145C>G (p.Gln49Glu) | |
| 11 | g.67490062C>T | CA381550390 | AIP | c.470C>T c.304C>T (p.Gln102Ter) n.1005C>T c.468+607C>T (n.468+607C>T) c.124C>T (p.Gln42Ter) c.493C>T (p.Gln165Ter) c.316C>T (p.Gln106Ter) c.313C>T (p.Gln105Ter) c.145C>T (p.Gln49Ter) | ClinVar |
| 11 | g.67490063A= | CA1980172277 | AIP | c.471A= c.305A= (p.Gln102=) n.1006A= c.468+608A= (n.468+608A=) c.125A= (p.Gln42=) c.494A= (p.Gln165=) c.317A= (p.Gln106=) c.314A= (p.Gln105=) c.146A= (p.Gln49=) | |
| 11 | g.67490063A>C | CA381550398 | AIP | c.471A>C c.305A>C (p.Gln102Pro) n.1006A>C c.468+608A>C (n.468+608A>C) c.125A>C (p.Gln42Pro) c.494A>C (p.Gln165Pro) c.317A>C (p.Gln106Pro) c.314A>C (p.Gln105Pro) c.146A>C (p.Gln49Pro) | |
| 11 | g.67490063A>G | CA381550400 | AIP | c.471A>G c.305A>G (p.Gln102Arg) n.1006A>G c.468+608A>G (n.468+608A>G) c.125A>G (p.Gln42Arg) c.494A>G (p.Gln165Arg) c.317A>G (p.Gln106Arg) c.314A>G (p.Gln105Arg) c.146A>G (p.Gln49Arg) | dbSNP |
| 11 | g.67490063A>T | CA381550402 | AIP | c.471A>T c.305A>T (p.Gln102Leu) n.1006A>T c.468+608A>T (n.468+608A>T) c.125A>T (p.Gln42Leu) c.494A>T (p.Gln165Leu) c.317A>T (p.Gln106Leu) c.314A>T (p.Gln105Leu) c.146A>T (p.Gln49Leu) | |
| 11 | g.67490064G>A | CA475509141 | AIP | c.472G>A c.306G>A (p.Gln102=) n.1007G>A c.468+609G>A (n.468+609G>A) c.126G>A (p.Gln42=) c.495G>A (p.Gln165=) c.318G>A (p.Gln106=) c.315G>A (p.Gln105=) c.147G>A (p.Gln49=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490064G>C | CA381550405 | AIP | c.472G>C c.306G>C (p.Gln102His) n.1007G>C c.468+609G>C (n.468+609G>C) c.126G>C (p.Gln42His) c.495G>C (p.Gln165His) c.318G>C (p.Gln106His) c.315G>C (p.Gln105His) c.147G>C (p.Gln49His) | |
| 11 | g.67490064G= | CA1980172278 | AIP | c.472G= c.306G= (p.Gln102=) n.1007G= c.468+609G= (n.468+609G=) c.126G= (p.Gln42=) c.495G= (p.Gln165=) c.318G= (p.Gln106=) c.315G= (p.Gln105=) c.147G= (p.Gln49=) | |
| 11 | g.67490064G>T | CA381550406 | AIP | c.472G>T c.306G>T (p.Gln102His) n.1007G>T c.468+609G>T (n.468+609G>T) c.126G>T (p.Gln42His) c.495G>T (p.Gln165His) c.318G>T (p.Gln106His) c.315G>T (p.Gln105His) c.147G>T (p.Gln49His) | |
| 11 | g.67490065G>A | CA381550411 | AIP | c.473G>A c.307G>A (p.Asp103Asn) n.1008G>A c.468+610G>A (n.468+610G>A) c.127G>A (p.Asp43Asn) c.496G>A (p.Asp166Asn) c.319G>A (p.Asp107Asn) c.316G>A (p.Asp106Asn) c.148G>A (p.Asp50Asn) | ClinVar gnomAD v4 |
| 11 | g.67490065G>C | CA381550413 | AIP | c.473G>C c.307G>C (p.Asp103His) n.1008G>C c.468+610G>C (n.468+610G>C) c.127G>C (p.Asp43His) c.496G>C (p.Asp166His) c.319G>C (p.Asp107His) c.316G>C (p.Asp106His) c.148G>C (p.Asp50His) | |
| 11 | g.67490065G>T | CA381550417 | AIP | c.473G>T c.307G>T (p.Asp103Tyr) n.1008G>T c.468+610G>T (n.468+610G>T) c.127G>T (p.Asp43Tyr) c.496G>T (p.Asp166Tyr) c.319G>T (p.Asp107Tyr) c.316G>T (p.Asp106Tyr) c.148G>T (p.Asp50Tyr) | |
| 11 | g.67490066A>C | CA381550422 | AIP | c.474A>C c.308A>C (p.Asp103Ala) n.1009A>C c.468+611A>C (n.468+611A>C) c.128A>C (p.Asp43Ala) c.497A>C (p.Asp166Ala) c.320A>C (p.Asp107Ala) c.317A>C (p.Asp106Ala) c.149A>C (p.Asp50Ala) | |
| 11 | g.67490066A>G | CA381550425 | AIP | c.474A>G c.308A>G (p.Asp103Gly) n.1009A>G c.468+611A>G (n.468+611A>G) c.128A>G (p.Asp43Gly) c.497A>G (p.Asp166Gly) c.320A>G (p.Asp107Gly) c.317A>G (p.Asp106Gly) c.149A>G (p.Asp50Gly) | |
| 11 | g.67490066A>T | CA381550429 | AIP | c.474A>T c.308A>T (p.Asp103Val) n.1009A>T c.468+611A>T (n.468+611A>T) c.128A>T (p.Asp43Val) c.497A>T (p.Asp166Val) c.320A>T (p.Asp107Val) c.317A>T (p.Asp106Val) c.149A>T (p.Asp50Val) | ClinVar dbSNP |
| 11 | g.67490066_67490067delinsAC | CA1980172279 | AIP | c.474_475delinsAC c.308_309delinsAC (p.Asp103=) n.1009_1010delinsAC c.468+611_468+612delinsAC (n.468+611_468+612delinsAC) c.128_129delinsAC (p.Asp43=) c.497_498delinsAC (p.Asp166=) c.320_321delinsAC (p.Asp107=) c.317_318delinsAC (p.Asp106=) c.149_150delinsAC (p.Asp50=) | |
| 11 | g.67490067C>A | CA381550435 | AIP | c.475C>A c.309C>A (p.Asp103Glu) n.1010C>A c.468+612C>A (n.468+612C>A) c.129C>A (p.Asp43Glu) c.498C>A (p.Asp166Glu) c.321C>A (p.Asp107Glu) c.318C>A (p.Asp106Glu) c.150C>A (p.Asp50Glu) | |
| 11 | g.67490067C>G | CA381550443 | AIP | c.475C>G c.309C>G (p.Asp103Glu) n.1010C>G c.468+612C>G (n.468+612C>G) c.129C>G (p.Asp43Glu) c.498C>G (p.Asp166Glu) c.321C>G (p.Asp107Glu) c.318C>G (p.Asp106Glu) c.150C>G (p.Asp50Glu) | |
| 11 | g.67490067C>T | CA475509145 | AIP | c.475C>T c.309C>T (p.Asp103=) n.1010C>T c.468+612C>T (n.468+612C>T) c.129C>T (p.Asp43=) c.498C>T (p.Asp166=) c.321C>T (p.Asp107=) c.318C>T (p.Asp106=) c.150C>T (p.Asp50=) | ClinVar gnomAD v4 |
| 11 | g.67490069del | CA344124 | AIP | c.477del c.311del (p.Pro104HisfsTer4) n.1012del c.468+614del (n.468+614del) c.131del (p.Pro44HisfsTer4) c.500del (p.Pro167HisfsTer4) c.323del (p.Pro108HisfsTer4) c.320del (p.Pro107HisfsTer4) c.152del (p.Pro51HisfsTer4) | ClinVar dbSNP |
| 11 | g.67490068C>A | CA381550452 | AIP | c.476C>A c.310C>A (p.Pro104Thr) n.1011C>A c.468+613C>A (n.468+613C>A) c.130C>A (p.Pro44Thr) c.499C>A (p.Pro167Thr) c.322C>A (p.Pro108Thr) c.319C>A (p.Pro107Thr) c.151C>A (p.Pro51Thr) | |
| 11 | g.67490068C= | CA1980172280 | AIP | c.476C= c.310C= (p.Pro104=) n.1011C= c.468+613C= (n.468+613C=) c.130C= (p.Pro44=) c.499C= (p.Pro167=) c.322C= (p.Pro108=) c.319C= (p.Pro107=) c.151C= (p.Pro51=) | |
| 11 | g.67490068C>G | CA381550451 | AIP | c.476C>G c.310C>G (p.Pro104Ala) n.1011C>G c.468+613C>G (n.468+613C>G) c.130C>G (p.Pro44Ala) c.499C>G (p.Pro167Ala) c.322C>G (p.Pro108Ala) c.319C>G (p.Pro107Ala) c.151C>G (p.Pro51Ala) | |
| 11 | g.67490068C>T | CA381550450 | AIP | c.476C>T c.310C>T (p.Pro104Ser) n.1011C>T c.468+613C>T (n.468+613C>T) c.130C>T (p.Pro44Ser) c.499C>T (p.Pro167Ser) c.322C>T (p.Pro108Ser) c.319C>T (p.Pro107Ser) c.151C>T (p.Pro51Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490073_67490079del | CA2582341884 | AIP | c.481_487del c.315_321del (p.Trp105Ter) n.1016_1022del c.468+618_468+624del (n.468+618_468+624del) c.135_141del (p.Trp45Ter) c.504_510del (p.Trp168Ter) c.327_333del (p.Trp109Ter) c.324_330del (p.Trp108Ter) c.156_162del (p.Trp52Ter) | ClinVar |
| 11 | g.67490069C>A | CA381550454 | AIP | c.477C>A c.311C>A (p.Pro104Gln) n.1012C>A c.468+614C>A (n.468+614C>A) c.131C>A (p.Pro44Gln) c.500C>A (p.Pro167Gln) c.323C>A (p.Pro108Gln) c.320C>A (p.Pro107Gln) c.152C>A (p.Pro51Gln) | |
| 11 | g.67490069C>G | CA381550456 | AIP | c.477C>G c.311C>G (p.Pro104Arg) n.1012C>G c.468+614C>G (n.468+614C>G) c.131C>G (p.Pro44Arg) c.500C>G (p.Pro167Arg) c.323C>G (p.Pro108Arg) c.320C>G (p.Pro107Arg) c.152C>G (p.Pro51Arg) | |
| 11 | g.67490069C>T | CA381550457 | AIP | c.477C>T c.311C>T (p.Pro104Leu) n.1012C>T c.468+614C>T (n.468+614C>T) c.131C>T (p.Pro44Leu) c.500C>T (p.Pro167Leu) c.323C>T (p.Pro108Leu) c.320C>T (p.Pro107Leu) c.152C>T (p.Pro51Leu) | gnomAD v4 |
| 11 | g.67490070A= | CA1980172281 | AIP | c.478A= c.312A= (p.Pro104=) n.1013A= c.468+615A= (n.468+615A=) c.132A= (p.Pro44=) c.501A= (p.Pro167=) c.324A= (p.Pro108=) c.321A= (p.Pro107=) c.153A= (p.Pro51=) | |
| 11 | g.67490070A>C | CA475509148 | AIP | c.478A>C c.312A>C (p.Pro104=) n.1013A>C c.468+615A>C (n.468+615A>C) c.132A>C (p.Pro44=) c.501A>C (p.Pro167=) c.324A>C (p.Pro108=) c.321A>C (p.Pro107=) c.153A>C (p.Pro51=) | ClinVar |
| 11 | g.67490070A>G | CA475509146 | AIP | c.478A>G c.312A>G (p.Pro104=) n.1013A>G c.468+615A>G (n.468+615A>G) c.132A>G (p.Pro44=) c.501A>G (p.Pro167=) c.324A>G (p.Pro108=) c.321A>G (p.Pro107=) c.153A>G (p.Pro51=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490070A>T | CA475509147 | AIP | c.478A>T c.312A>T (p.Pro104=) n.1013A>T c.468+615A>T (n.468+615A>T) c.132A>T (p.Pro44=) c.501A>T (p.Pro167=) c.324A>T (p.Pro108=) c.321A>T (p.Pro107=) c.153A>T (p.Pro51=) | |
| 11 | g.67490071T>A | CA381550458 | AIP | c.479T>A c.313T>A (p.Trp105Arg) n.1014T>A c.468+616T>A (n.468+616T>A) c.133T>A (p.Trp45Arg) c.502T>A (p.Trp168Arg) c.325T>A (p.Trp109Arg) c.322T>A (p.Trp108Arg) c.154T>A (p.Trp52Arg) | |
| 11 | g.67490071T>C | CA224164933 | AIP | c.479T>C c.313T>C (p.Trp105Arg) n.1014T>C c.468+616T>C (n.468+616T>C) c.133T>C (p.Trp45Arg) c.502T>C (p.Trp168Arg) c.325T>C (p.Trp109Arg) c.322T>C (p.Trp108Arg) c.154T>C (p.Trp52Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490071T>G | CA224164935 | AIP | c.479T>G c.313T>G (p.Trp105Gly) n.1014T>G c.468+616T>G (n.468+616T>G) c.133T>G (p.Trp45Gly) c.502T>G (p.Trp168Gly) c.325T>G (p.Trp109Gly) c.322T>G (p.Trp108Gly) c.154T>G (p.Trp52Gly) | ClinVar dbSNP |
| 11 | g.67490071T= | CA1980172282 | AIP | c.479T= c.313T= (p.Trp105=) n.1014T= c.468+616T= (n.468+616T=) c.133T= (p.Trp45=) c.502T= (p.Trp168=) c.325T= (p.Trp109=) c.322T= (p.Trp108=) c.154T= (p.Trp52=) | |
| 11 | g.67490072G>A | CA381550460 | AIP | c.480G>A c.314G>A (p.Trp105Ter) n.1015G>A c.468+617G>A (n.468+617G>A) c.134G>A (p.Trp45Ter) c.503G>A (p.Trp168Ter) c.326G>A (p.Trp109Ter) c.323G>A (p.Trp108Ter) c.155G>A (p.Trp52Ter) | |
| 11 | g.67490072G>C | CA381550461 | AIP | c.480G>C c.314G>C (p.Trp105Ser) n.1015G>C c.468+617G>C (n.468+617G>C) c.134G>C (p.Trp45Ser) c.503G>C (p.Trp168Ser) c.326G>C (p.Trp109Ser) c.323G>C (p.Trp108Ser) c.155G>C (p.Trp52Ser) | |
| 11 | g.67490072G>T | CA381550462 | AIP | c.480G>T c.314G>T (p.Trp105Leu) n.1015G>T c.468+617G>T (n.468+617G>T) c.134G>T (p.Trp45Leu) c.503G>T (p.Trp168Leu) c.326G>T (p.Trp109Leu) c.323G>T (p.Trp108Leu) c.155G>T (p.Trp52Leu) | |
| 11 | g.67490073G>A | CA381550463 | AIP | c.481G>A c.315G>A (p.Trp105Ter) n.1016G>A c.468+618G>A (n.468+618G>A) c.135G>A (p.Trp45Ter) c.504G>A (p.Trp168Ter) c.327G>A (p.Trp109Ter) c.324G>A (p.Trp108Ter) c.156G>A (p.Trp52Ter) | ClinVar dbSNP |
| 11 | g.67490073G>C | CA381550464 | AIP | c.481G>C c.315G>C (p.Trp105Cys) n.1016G>C c.468+618G>C (n.468+618G>C) c.135G>C (p.Trp45Cys) c.504G>C (p.Trp168Cys) c.327G>C (p.Trp109Cys) c.324G>C (p.Trp108Cys) c.156G>C (p.Trp52Cys) | |
| 11 | g.67490073G>T | CA381550465 | AIP | c.481G>T c.315G>T (p.Trp105Cys) n.1016G>T c.468+618G>T (n.468+618G>T) c.135G>T (p.Trp45Cys) c.504G>T (p.Trp168Cys) c.327G>T (p.Trp109Cys) c.324G>T (p.Trp108Cys) c.156G>T (p.Trp52Cys) | COSMIC |
| 11 | g.67490074G>A | CA381550471 | AIP | c.482G>A c.316G>A (p.Ala106Thr) n.1017G>A c.468+619G>A (n.468+619G>A) c.136G>A (p.Ala46Thr) c.505G>A (p.Ala169Thr) c.328G>A (p.Ala110Thr) c.325G>A (p.Ala109Thr) c.157G>A (p.Ala53Thr) | gnomAD v4 |
| 11 | g.67490074G>C | CA381550468 | AIP | c.482G>C c.316G>C (p.Ala106Pro) n.1017G>C c.468+619G>C (n.468+619G>C) c.136G>C (p.Ala46Pro) c.505G>C (p.Ala169Pro) c.328G>C (p.Ala110Pro) c.325G>C (p.Ala109Pro) c.157G>C (p.Ala53Pro) | |
| 11 | g.67490074G>T | CA381550470 | AIP | c.482G>T c.316G>T (p.Ala106Ser) n.1017G>T c.468+619G>T (n.468+619G>T) c.136G>T (p.Ala46Ser) c.505G>T (p.Ala169Ser) c.328G>T (p.Ala110Ser) c.325G>T (p.Ala109Ser) c.157G>T (p.Ala53Ser) | |
| 11 | g.67490075C>A | CA6140861 | AIP | c.483C>A c.317C>A (p.Ala106Asp) n.1018C>A c.468+620C>A (n.468+620C>A) c.137C>A (p.Ala46Asp) c.506C>A (p.Ala169Asp) c.329C>A (p.Ala110Asp) c.326C>A (p.Ala109Asp) c.158C>A (p.Ala53Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490075C= | CA1980172283 | AIP | c.483C= c.317C= (p.Ala106=) n.1018C= c.468+620C= (n.468+620C=) c.137C= (p.Ala46=) c.506C= (p.Ala169=) c.329C= (p.Ala110=) c.326C= (p.Ala109=) c.158C= (p.Ala53=) | |
| 11 | g.67490075C>G | CA381550476 | AIP | c.483C>G c.317C>G (p.Ala106Gly) n.1018C>G c.468+620C>G (n.468+620C>G) c.137C>G (p.Ala46Gly) c.506C>G (p.Ala169Gly) c.329C>G (p.Ala110Gly) c.326C>G (p.Ala109Gly) c.158C>G (p.Ala53Gly) | |
| 11 | g.67490075C>T | CA381550478 | AIP | c.483C>T c.317C>T (p.Ala106Val) n.1018C>T c.468+620C>T (n.468+620C>T) c.137C>T (p.Ala46Val) c.506C>T (p.Ala169Val) c.329C>T (p.Ala110Val) c.326C>T (p.Ala109Val) c.158C>T (p.Ala53Val) | |
| 11 | g.67490076C>A | CA475509149 | AIP | c.484C>A c.318C>A (p.Ala106=) n.1019C>A c.468+621C>A (n.468+621C>A) c.138C>A (p.Ala46=) c.507C>A (p.Ala169=) c.330C>A (p.Ala110=) c.327C>A (p.Ala109=) c.159C>A (p.Ala53=) | |
| 11 | g.67490076C>G | CA475509151 | AIP | c.484C>G c.318C>G (p.Ala106=) n.1019C>G c.468+621C>G (n.468+621C>G) c.138C>G (p.Ala46=) c.507C>G (p.Ala169=) c.330C>G (p.Ala110=) c.327C>G (p.Ala109=) c.159C>G (p.Ala53=) | |
| 11 | g.67490076C>T | CA475509150 | AIP | c.484C>T c.318C>T (p.Ala106=) n.1019C>T c.468+621C>T (n.468+621C>T) c.138C>T (p.Ala46=) c.507C>T (p.Ala169=) c.330C>T (p.Ala110=) c.327C>T (p.Ala109=) c.159C>T (p.Ala53=) | |
| 11 | g.67490077A>C | CA381550480 | AIP | c.485A>C c.319A>C (p.Met107Leu) n.1020A>C c.468+622A>C (n.468+622A>C) c.139A>C (p.Met47Leu) c.508A>C (p.Met170Leu) c.331A>C (p.Met111Leu) c.328A>C (p.Met110Leu) c.160A>C (p.Met54Leu) | |
| 11 | g.67490077A>G | CA381550482 | AIP | c.485A>G c.319A>G (p.Met107Val) n.1020A>G c.468+622A>G (n.468+622A>G) c.139A>G (p.Met47Val) c.508A>G (p.Met170Val) c.331A>G (p.Met111Val) c.328A>G (p.Met110Val) c.160A>G (p.Met54Val) | gnomAD v4 |
| 11 | g.67490077A>T | CA381550484 | AIP | c.485A>T c.319A>T (p.Met107Leu) n.1020A>T c.468+622A>T (n.468+622A>T) c.139A>T (p.Met47Leu) c.508A>T (p.Met170Leu) c.331A>T (p.Met111Leu) c.328A>T (p.Met110Leu) c.160A>T (p.Met54Leu) | |
| 11 | g.67490078T>A | CA381550489 | AIP | c.486T>A c.320T>A (p.Met107Lys) n.1021T>A c.468+623T>A (n.468+623T>A) c.140T>A (p.Met47Lys) c.509T>A (p.Met170Lys) c.332T>A (p.Met111Lys) c.329T>A (p.Met110Lys) c.161T>A (p.Met54Lys) | |
| 11 | g.67490078T>C | CA381550491 | AIP | c.486T>C c.320T>C (p.Met107Thr) n.1021T>C c.468+623T>C (n.468+623T>C) c.140T>C (p.Met47Thr) c.509T>C (p.Met170Thr) c.332T>C (p.Met111Thr) c.329T>C (p.Met110Thr) c.161T>C (p.Met54Thr) | |
| 11 | g.67490078T>G | CA381550493 | AIP | c.486T>G c.320T>G (p.Met107Arg) n.1021T>G c.468+623T>G (n.468+623T>G) c.140T>G (p.Met47Arg) c.509T>G (p.Met170Arg) c.332T>G (p.Met111Arg) c.329T>G (p.Met110Arg) c.161T>G (p.Met54Arg) | |
| 11 | g.67490079G>A | CA381550500 | AIP | c.487G>A c.321G>A (p.Met107Ile) n.1022G>A c.468+624G>A (n.468+624G>A) c.141G>A (p.Met47Ile) c.510G>A (p.Met170Ile) c.333G>A (p.Met111Ile) c.330G>A (p.Met110Ile) c.162G>A (p.Met54Ile) | ClinVar gnomAD v4 |
| 11 | g.67490079G>C | CA381550501 | AIP | c.487G>C c.321G>C (p.Met107Ile) n.1022G>C c.468+624G>C (n.468+624G>C) c.141G>C (p.Met47Ile) c.510G>C (p.Met170Ile) c.333G>C (p.Met111Ile) c.330G>C (p.Met110Ile) c.162G>C (p.Met54Ile) | |
| 11 | g.67490079G>T | CA381550503 | AIP | c.487G>T c.321G>T (p.Met107Ile) n.1022G>T c.468+624G>T (n.468+624G>T) c.141G>T (p.Met47Ile) c.510G>T (p.Met170Ile) c.333G>T (p.Met111Ile) c.330G>T (p.Met110Ile) c.162G>T (p.Met54Ile) | |
| 11 | g.67490080A>C | CA381550508 | AIP | c.488A>C c.322A>C (p.Thr108Pro) n.1023A>C c.468+625A>C (n.468+625A>C) c.142A>C (p.Thr48Pro) c.511A>C (p.Thr171Pro) c.334A>C (p.Thr112Pro) c.331A>C (p.Thr111Pro) c.163A>C (p.Thr55Pro) | |
| 11 | g.67490080A>G | CA381550507 | AIP | c.488A>G c.322A>G (p.Thr108Ala) n.1023A>G c.468+625A>G (n.468+625A>G) c.142A>G (p.Thr48Ala) c.511A>G (p.Thr171Ala) c.334A>G (p.Thr112Ala) c.331A>G (p.Thr111Ala) c.163A>G (p.Thr55Ala) | ClinVar dbSNP |
| 11 | g.67490080A>T | CA381550505 | AIP | c.488A>T c.322A>T (p.Thr108Ser) n.1023A>T c.468+625A>T (n.468+625A>T) c.142A>T (p.Thr48Ser) c.511A>T (p.Thr171Ser) c.334A>T (p.Thr112Ser) c.331A>T (p.Thr111Ser) c.163A>T (p.Thr55Ser) | |
| 11 | g.67490081C>A | CA381550511 | AIP | c.489C>A c.323C>A (p.Thr108Lys) n.1024C>A c.468+626C>A (n.468+626C>A) c.143C>A (p.Thr48Lys) c.512C>A (p.Thr171Lys) c.335C>A (p.Thr112Lys) c.332C>A (p.Thr111Lys) c.164C>A (p.Thr55Lys) | |
| 11 | g.67490081C= | CA1980172284 | AIP | c.489C= c.323C= (p.Thr108=) n.1024C= c.468+626C= (n.468+626C=) c.143C= (p.Thr48=) c.512C= (p.Thr171=) c.335C= (p.Thr112=) c.332C= (p.Thr111=) c.164C= (p.Thr55=) | |
| 11 | g.67490081C>G | CA381550513 | AIP | c.489C>G c.323C>G (p.Thr108Arg) n.1024C>G c.468+626C>G (n.468+626C>G) c.143C>G (p.Thr48Arg) c.512C>G (p.Thr171Arg) c.335C>G (p.Thr112Arg) c.332C>G (p.Thr111Arg) c.164C>G (p.Thr55Arg) | ClinVar |
| 11 | g.67490081C>T | CA381550514 | AIP | c.489C>T c.323C>T (p.Thr108Ile) n.1024C>T c.468+626C>T (n.468+626C>T) c.143C>T (p.Thr48Ile) c.512C>T (p.Thr171Ile) c.335C>T (p.Thr112Ile) c.332C>T (p.Thr111Ile) c.164C>T (p.Thr55Ile) | ClinVar dbSNP |
| 11 | g.67490082A= | CA1980172285 | AIP | c.490A= c.324A= (p.Thr108=) n.1025A= c.468+627A= (n.468+627A=) c.144A= (p.Thr48=) c.513A= (p.Thr171=) c.336A= (p.Thr112=) c.333A= (p.Thr111=) c.165A= (p.Thr55=) | |
| 11 | g.67490082A>C | CA475509153 | AIP | c.490A>C c.324A>C (p.Thr108=) n.1025A>C c.468+627A>C (n.468+627A>C) c.144A>C (p.Thr48=) c.513A>C (p.Thr171=) c.336A>C (p.Thr112=) c.333A>C (p.Thr111=) c.165A>C (p.Thr55=) | |
| 11 | g.67490082A>G | CA475509154 | AIP | c.490A>G c.324A>G (p.Thr108=) n.1025A>G c.468+627A>G (n.468+627A>G) c.144A>G (p.Thr48=) c.513A>G (p.Thr171=) c.336A>G (p.Thr112=) c.333A>G (p.Thr111=) c.165A>G (p.Thr55=) | ClinVar dbSNP gnomAD v2 |
| 11 | g.67490082A>T | CA475509155 | AIP | c.490A>T c.324A>T (p.Thr108=) n.1025A>T c.468+627A>T (n.468+627A>T) c.144A>T (p.Thr48=) c.513A>T (p.Thr171=) c.336A>T (p.Thr112=) c.333A>T (p.Thr111=) c.165A>T (p.Thr55=) | |
| 11 | g.67490083_67490084del | CA2561363674 | AIP | c.491_492del c.325_326del (p.Asp109ArgfsTer?) n.1026_1027del c.468+628_468+629del (n.468+628_468+629del) c.145_146del (p.Asp49ArgfsTer?) c.514_515del (p.Asp172ArgfsTer?) c.337_338del (p.Asp113ArgfsTer?) c.334_335del (p.Asp112ArgfsTer?) c.166_167del (p.Asp56ArgfsTer?) | |
| 11 | g.67490083G>A | CA381550517 | AIP | c.491G>A c.325G>A (p.Asp109Asn) n.1026G>A c.468+628G>A (n.468+628G>A) c.145G>A (p.Asp49Asn) c.514G>A (p.Asp172Asn) c.337G>A (p.Asp113Asn) c.334G>A (p.Asp112Asn) c.166G>A (p.Asp56Asn) | |
| 11 | g.67490083G>C | CA381550520 | AIP | c.491G>C c.325G>C (p.Asp109His) n.1026G>C c.468+628G>C (n.468+628G>C) c.145G>C (p.Asp49His) c.514G>C (p.Asp172His) c.337G>C (p.Asp113His) c.334G>C (p.Asp112His) c.166G>C (p.Asp56His) | |
| 11 | g.67490083G= | CA1980172286 | AIP | c.491G= c.325G= (p.Asp109=) n.1026G= c.468+628G= (n.468+628G=) c.145G= (p.Asp49=) c.514G= (p.Asp172=) c.337G= (p.Asp113=) c.334G= (p.Asp112=) c.166G= (p.Asp56=) | |
| 11 | g.67490083G>T | CA381550524 | AIP | c.491G>T c.325G>T (p.Asp109Tyr) n.1026G>T c.468+628G>T (n.468+628G>T) c.145G>T (p.Asp49Tyr) c.514G>T (p.Asp172Tyr) c.337G>T (p.Asp113Tyr) c.334G>T (p.Asp112Tyr) c.166G>T (p.Asp56Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490084A>C | CA381550527 | AIP | c.492A>C c.326A>C (p.Asp109Ala) n.1027A>C c.468+629A>C (n.468+629A>C) c.146A>C (p.Asp49Ala) c.515A>C (p.Asp172Ala) c.338A>C (p.Asp113Ala) c.335A>C (p.Asp112Ala) c.167A>C (p.Asp56Ala) | |
| 11 | g.67490084A>G | CA381550528 | AIP | c.492A>G c.326A>G (p.Asp109Gly) n.1027A>G c.468+629A>G (n.468+629A>G) c.146A>G (p.Asp49Gly) c.515A>G (p.Asp172Gly) c.338A>G (p.Asp113Gly) c.335A>G (p.Asp112Gly) c.167A>G (p.Asp56Gly) | gnomAD v4 |
| 11 | g.67490084A>T | CA381550533 | AIP | c.492A>T c.326A>T (p.Asp109Val) n.1027A>T c.468+629A>T (n.468+629A>T) c.146A>T (p.Asp49Val) c.515A>T (p.Asp172Val) c.338A>T (p.Asp113Val) c.335A>T (p.Asp112Val) c.167A>T (p.Asp56Val) | |
| 11 | g.67490085C>A | CA381550536 | AIP | c.493C>A c.327C>A (p.Asp109Glu) n.1028C>A c.468+630C>A (n.468+630C>A) c.147C>A (p.Asp49Glu) c.516C>A (p.Asp172Glu) c.339C>A (p.Asp113Glu) c.336C>A (p.Asp112Glu) c.168C>A (p.Asp56Glu) | |
| 11 | g.67490085C= | CA1980172287 | AIP | c.493C= c.327C= (p.Asp109=) n.1028C= c.468+630C= (n.468+630C=) c.147C= (p.Asp49=) c.516C= (p.Asp172=) c.339C= (p.Asp113=) c.336C= (p.Asp112=) c.168C= (p.Asp56=) | |
| 11 | g.67490085C>G | CA224164938 | AIP | c.493C>G c.327C>G (p.Asp109Glu) n.1028C>G c.468+630C>G (n.468+630C>G) c.147C>G (p.Asp49Glu) c.516C>G (p.Asp172Glu) c.339C>G (p.Asp113Glu) c.336C>G (p.Asp112Glu) c.168C>G (p.Asp56Glu) | dbSNP gnomAD v4 |
| 11 | g.67490085C>T | CA6140862 | AIP | c.493C>T c.327C>T (p.Asp109=) n.1028C>T c.468+630C>T (n.468+630C>T) c.147C>T (p.Asp49=) c.516C>T (p.Asp172=) c.339C>T (p.Asp113=) c.336C>T (p.Asp112=) c.168C>T (p.Asp56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490085_67490090delinsCGAAGA | CA1980172288 | AIP | c.493_498delinsCGAAGA c.327_332delinsCGAAGA (p.Asp109=) n.1028_1033delinsCGAAGA c.468+630_468+635delinsCGAAGA (n.468+630_468+635delinsCGAAGA) c.147_152delinsCGAAGA (p.Asp49=) c.516_521delinsCGAAGA (p.Asp172=) c.339_344delinsCGAAGA (p.Asp113=) c.336_341delinsCGAAGA (p.Asp112=) c.168_173delinsCGAAGA (p.Asp56=) | |
| 11 | g.67490086G>A | CA6140863 | AIP | c.494G>A c.328G>A (p.Glu110Lys) n.1029G>A c.468+631G>A (n.468+631G>A) c.148G>A (p.Glu50Lys) c.517G>A (p.Glu173Lys) c.340G>A (p.Glu114Lys) c.337G>A (p.Glu113Lys) c.169G>A (p.Glu57Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490086G>C | CA381550544 | AIP | c.494G>C c.328G>C (p.Glu110Gln) n.1029G>C c.468+631G>C (n.468+631G>C) c.148G>C (p.Glu50Gln) c.517G>C (p.Glu173Gln) c.340G>C (p.Glu114Gln) c.337G>C (p.Glu113Gln) c.169G>C (p.Glu57Gln) | |
| 11 | g.67490086G= | CA1980172289 | AIP | c.494G= c.328G= (p.Glu110=) n.1029G= c.468+631G= (n.468+631G=) c.148G= (p.Glu50=) c.517G= (p.Glu173=) c.340G= (p.Glu114=) c.337G= (p.Glu113=) c.169G= (p.Glu57=) | |
| 11 | g.67490086G>T | CA381550540 | AIP | c.494G>T c.328G>T (p.Glu110Ter) n.1029G>T c.468+631G>T (n.468+631G>T) c.148G>T (p.Glu50Ter) c.517G>T (p.Glu173Ter) c.340G>T (p.Glu114Ter) c.337G>T (p.Glu113Ter) c.169G>T (p.Glu57Ter) | |
| 11 | g.67490090_67490094del | CA344125 | AIP | c.498_502del c.332_336del (p.Glu111GlyfsTer?) n.1033_1037del c.468+635_468+639del (n.468+635_468+639del) c.152_156del (p.Glu51GlyfsTer?) c.521_525del (p.Glu174GlyfsTer?) c.344_348del (p.Glu115GlyfsTer?) c.341_345del (p.Glu114GlyfsTer?) c.173_177del (p.Glu58GlyfsTer?) | ClinVar dbSNP |
| 11 | g.67490087A>C | CA381550552 | AIP | c.495A>C c.329A>C (p.Glu110Ala) n.1030A>C c.468+632A>C (n.468+632A>C) c.149A>C (p.Glu50Ala) c.518A>C (p.Glu173Ala) c.341A>C (p.Glu114Ala) c.338A>C (p.Glu113Ala) c.170A>C (p.Glu57Ala) | |
| 11 | g.67490087A>G | CA381550547 | AIP | c.495A>G c.329A>G (p.Glu110Gly) n.1030A>G c.468+632A>G (n.468+632A>G) c.149A>G (p.Glu50Gly) c.518A>G (p.Glu173Gly) c.341A>G (p.Glu114Gly) c.338A>G (p.Glu113Gly) c.170A>G (p.Glu57Gly) | |
| 11 | g.67490087A>T | CA381550550 | AIP | c.495A>T c.329A>T (p.Glu110Val) n.1030A>T c.468+632A>T (n.468+632A>T) c.149A>T (p.Glu50Val) c.518A>T (p.Glu173Val) c.341A>T (p.Glu114Val) c.338A>T (p.Glu113Val) c.170A>T (p.Glu57Val) | |
| 11 | g.67490088A= | CA1980172290 | AIP | c.496A= c.330A= (p.Glu110=) n.1031A= c.468+633A= (n.468+633A=) c.150A= (p.Glu50=) c.519A= (p.Glu173=) c.342A= (p.Glu114=) c.339A= (p.Glu113=) c.171A= (p.Glu57=) | |
| 11 | g.67490088A>C | CA381550553 | AIP | c.496A>C c.330A>C (p.Glu110Asp) n.1031A>C c.468+633A>C (n.468+633A>C) c.150A>C (p.Glu50Asp) c.519A>C (p.Glu173Asp) c.342A>C (p.Glu114Asp) c.339A>C (p.Glu113Asp) c.171A>C (p.Glu57Asp) | gnomAD v4 |
| 11 | g.67490088A>G | CA475509156 | AIP | c.496A>G c.330A>G (p.Glu110=) n.1031A>G c.468+633A>G (n.468+633A>G) c.150A>G (p.Glu50=) c.519A>G (p.Glu173=) c.342A>G (p.Glu114=) c.339A>G (p.Glu113=) c.171A>G (p.Glu57=) | ClinVar |
| 11 | g.67490088A>T | CA381550554 | AIP | c.496A>T c.330A>T (p.Glu110Asp) n.1031A>T c.468+633A>T (n.468+633A>T) c.150A>T (p.Glu50Asp) c.519A>T (p.Glu173Asp) c.342A>T (p.Glu114Asp) c.339A>T (p.Glu113Asp) c.171A>T (p.Glu57Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490089G>A | CA381550555 | AIP | c.497G>A c.331G>A (p.Glu111Lys) n.1032G>A c.468+634G>A (n.468+634G>A) c.151G>A (p.Glu51Lys) c.520G>A (p.Glu174Lys) c.343G>A (p.Glu115Lys) c.340G>A (p.Glu114Lys) c.172G>A (p.Glu58Lys) | |
| 11 | g.67490089G>C | CA381550556 | AIP | c.497G>C c.331G>C (p.Glu111Gln) n.1032G>C c.468+634G>C (n.468+634G>C) c.151G>C (p.Glu51Gln) c.520G>C (p.Glu174Gln) c.343G>C (p.Glu115Gln) c.340G>C (p.Glu114Gln) c.172G>C (p.Glu58Gln) | ClinVar dbSNP |
| 11 | g.67490089G= | CA1980172291 | AIP | c.497G= c.331G= (p.Glu111=) n.1032G= c.468+634G= (n.468+634G=) c.151G= (p.Glu51=) c.520G= (p.Glu174=) c.343G= (p.Glu115=) c.340G= (p.Glu114=) c.172G= (p.Glu58=) | |
| 11 | g.67490089G>T | CA381550558 | AIP | c.497G>T c.331G>T (p.Glu111Ter) n.1032G>T c.468+634G>T (n.468+634G>T) c.151G>T (p.Glu51Ter) c.520G>T (p.Glu174Ter) c.343G>T (p.Glu115Ter) c.340G>T (p.Glu114Ter) c.172G>T (p.Glu58Ter) | |
| 11 | g.67490090A>C | CA381550563 | AIP | c.498A>C c.332A>C (p.Glu111Ala) n.1033A>C c.468+635A>C (n.468+635A>C) c.152A>C (p.Glu51Ala) c.521A>C (p.Glu174Ala) c.344A>C (p.Glu115Ala) c.341A>C (p.Glu114Ala) c.173A>C (p.Glu58Ala) | |
| 11 | g.67490090A>G | CA381550566 | AIP | c.498A>G c.332A>G (p.Glu111Gly) n.1033A>G c.468+635A>G (n.468+635A>G) c.152A>G (p.Glu51Gly) c.521A>G (p.Glu174Gly) c.344A>G (p.Glu115Gly) c.341A>G (p.Glu114Gly) c.173A>G (p.Glu58Gly) | |
| 11 | g.67490090A>T | CA381550567 | AIP | c.498A>T c.332A>T (p.Glu111Val) n.1033A>T c.468+635A>T (n.468+635A>T) c.152A>T (p.Glu51Val) c.521A>T (p.Glu174Val) c.344A>T (p.Glu115Val) c.341A>T (p.Glu114Val) c.173A>T (p.Glu58Val) | |
| 11 | g.67490091G>A | CA6140864 | AIP | c.499G>A c.333G>A (p.Glu111=) n.1034G>A c.468+636G>A (n.468+636G>A) c.153G>A (p.Glu51=) c.522G>A (p.Glu174=) c.345G>A (p.Glu115=) c.342G>A (p.Glu114=) c.174G>A (p.Glu58=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490091G>C | CA381550571 | AIP | c.499G>C c.333G>C (p.Glu111Asp) n.1034G>C c.468+636G>C (n.468+636G>C) c.153G>C (p.Glu51Asp) c.522G>C (p.Glu174Asp) c.345G>C (p.Glu115Asp) c.342G>C (p.Glu114Asp) c.174G>C (p.Glu58Asp) | |
| 11 | g.67490091G= | CA1980172292 | AIP | c.499G= c.333G= (p.Glu111=) n.1034G= c.468+636G= (n.468+636G=) c.153G= (p.Glu51=) c.522G= (p.Glu174=) c.345G= (p.Glu115=) c.342G= (p.Glu114=) c.174G= (p.Glu58=) | |
| 11 | g.67490091G>T | CA381550574 | AIP | c.499G>T c.333G>T (p.Glu111Asp) n.1034G>T c.468+636G>T (n.468+636G>T) c.153G>T (p.Glu51Asp) c.522G>T (p.Glu174Asp) c.345G>T (p.Glu115Asp) c.342G>T (p.Glu114Asp) c.174G>T (p.Glu58Asp) | |
| 11 | g.67490092A>C | CA381550580 | AIP | c.500A>C c.334A>C (p.Lys112Gln) n.1035A>C c.468+637A>C (n.468+637A>C) c.154A>C (p.Lys52Gln) c.523A>C (p.Lys175Gln) c.346A>C (p.Lys116Gln) c.343A>C (p.Lys115Gln) c.175A>C (p.Lys59Gln) | ClinVar gnomAD v4 |
| 11 | g.67490092A>G | CA381550584 | AIP | c.500A>G c.334A>G (p.Lys112Glu) n.1035A>G c.468+637A>G (n.468+637A>G) c.154A>G (p.Lys52Glu) c.523A>G (p.Lys175Glu) c.346A>G (p.Lys116Glu) c.343A>G (p.Lys115Glu) c.175A>G (p.Lys59Glu) | |
| 11 | g.67490092A>T | CA381550582 | AIP | c.500A>T c.334A>T (p.Lys112Ter) n.1035A>T c.468+637A>T (n.468+637A>T) c.154A>T (p.Lys52Ter) c.523A>T (p.Lys175Ter) c.346A>T (p.Lys116Ter) c.343A>T (p.Lys115Ter) c.175A>T (p.Lys59Ter) | |
| 11 | g.67490093A>C | CA381550588 | AIP | c.501A>C c.335A>C (p.Lys112Thr) n.1036A>C c.468+638A>C (n.468+638A>C) c.155A>C (p.Lys52Thr) c.524A>C (p.Lys175Thr) c.347A>C (p.Lys116Thr) c.344A>C (p.Lys115Thr) c.176A>C (p.Lys59Thr) | |
| 11 | g.67490093A>G | CA381550590 | AIP | c.501A>G c.335A>G (p.Lys112Arg) n.1036A>G c.468+638A>G (n.468+638A>G) c.155A>G (p.Lys52Arg) c.524A>G (p.Lys175Arg) c.347A>G (p.Lys116Arg) c.344A>G (p.Lys115Arg) c.176A>G (p.Lys59Arg) | |
| 11 | g.67490093A>T | CA381550594 | AIP | c.501A>T c.335A>T (p.Lys112Met) n.1036A>T c.468+638A>T (n.468+638A>T) c.155A>T (p.Lys52Met) c.524A>T (p.Lys175Met) c.347A>T (p.Lys116Met) c.344A>T (p.Lys115Met) c.176A>T (p.Lys59Met) | gnomAD v4 |
| 11 | g.67490094G>A | CA475509157 | AIP | c.502G>A c.336G>A (p.Lys112=) n.1037G>A c.468+639G>A (n.468+639G>A) c.156G>A (p.Lys52=) c.525G>A (p.Lys175=) c.348G>A (p.Lys116=) c.345G>A (p.Lys115=) c.177G>A (p.Lys59=) | ClinVar |
| 11 | g.67490094G>C | CA381550596 | AIP | c.502G>C c.336G>C (p.Lys112Asn) n.1037G>C c.468+639G>C (n.468+639G>C) c.156G>C (p.Lys52Asn) c.525G>C (p.Lys175Asn) c.348G>C (p.Lys116Asn) c.345G>C (p.Lys115Asn) c.177G>C (p.Lys59Asn) | |
| 11 | g.67490094G>T | CA381550599 | AIP | c.502G>T c.336G>T (p.Lys112Asn) n.1037G>T c.468+639G>T (n.468+639G>T) c.156G>T (p.Lys52Asn) c.525G>T (p.Lys175Asn) c.348G>T (p.Lys116Asn) c.345G>T (p.Lys115Asn) c.177G>T (p.Lys59Asn) | |
| 11 | g.67490095G>A | CA381550601 | AIP | c.503G>A c.337G>A (p.Ala113Thr) n.1038G>A c.468+640G>A (n.468+640G>A) c.157G>A (p.Ala53Thr) c.526G>A (p.Ala176Thr) c.349G>A (p.Ala117Thr) c.346G>A (p.Ala116Thr) c.178G>A (p.Ala60Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490095G>C | CA381550604 | AIP | c.503G>C c.337G>C (p.Ala113Pro) n.1038G>C c.468+640G>C (n.468+640G>C) c.157G>C (p.Ala53Pro) c.526G>C (p.Ala176Pro) c.349G>C (p.Ala117Pro) c.346G>C (p.Ala116Pro) c.178G>C (p.Ala60Pro) | |
| 11 | g.67490095G= | CA1980172293 | AIP | c.503G= c.337G= (p.Ala113=) n.1038G= c.468+640G= (n.468+640G=) c.157G= (p.Ala53=) c.526G= (p.Ala176=) c.349G= (p.Ala117=) c.346G= (p.Ala116=) c.178G= (p.Ala60=) | |
| 11 | g.67490095G>T | CA381550606 | AIP | c.503G>T c.337G>T (p.Ala113Ser) n.1038G>T c.468+640G>T (n.468+640G>T) c.157G>T (p.Ala53Ser) c.526G>T (p.Ala176Ser) c.349G>T (p.Ala117Ser) c.346G>T (p.Ala116Ser) c.178G>T (p.Ala60Ser) | |
| 11 | g.67490096C>A | CA381550609 | AIP | c.504C>A c.338C>A (p.Ala113Glu) n.1039C>A c.468+641C>A (n.468+641C>A) c.158C>A (p.Ala53Glu) c.527C>A (p.Ala176Glu) c.350C>A (p.Ala117Glu) c.347C>A (p.Ala116Glu) c.179C>A (p.Ala60Glu) | |
| 11 | g.67490096C>G | CA381550611 | AIP | c.504C>G c.338C>G (p.Ala113Gly) n.1039C>G c.468+641C>G (n.468+641C>G) c.158C>G (p.Ala53Gly) c.527C>G (p.Ala176Gly) c.350C>G (p.Ala117Gly) c.347C>G (p.Ala116Gly) c.179C>G (p.Ala60Gly) | |
| 11 | g.67490096C>T | CA381550615 | AIP | c.504C>T c.338C>T (p.Ala113Val) n.1039C>T c.468+641C>T (n.468+641C>T) c.158C>T (p.Ala53Val) c.527C>T (p.Ala176Val) c.350C>T (p.Ala117Val) c.347C>T (p.Ala116Val) c.179C>T (p.Ala60Val) | gnomAD v4 |
| 11 | g.67490097A>C | CA475509160 | AIP | c.505A>C c.339A>C (p.Ala113=) n.1040A>C c.468+642A>C (n.468+642A>C) c.159A>C (p.Ala53=) c.528A>C (p.Ala176=) c.351A>C (p.Ala117=) c.348A>C (p.Ala116=) c.180A>C (p.Ala60=) | |
| 11 | g.67490097A>G | CA475509159 | AIP | c.505A>G c.339A>G (p.Ala113=) n.1040A>G c.468+642A>G (n.468+642A>G) c.159A>G (p.Ala53=) c.528A>G (p.Ala176=) c.351A>G (p.Ala117=) c.348A>G (p.Ala116=) c.180A>G (p.Ala60=) | |
| 11 | g.67490097A>T | CA475509158 | AIP | c.505A>T c.339A>T (p.Ala113=) n.1040A>T c.468+642A>T (n.468+642A>T) c.159A>T (p.Ala53=) c.528A>T (p.Ala176=) c.351A>T (p.Ala117=) c.348A>T (p.Ala116=) c.180A>T (p.Ala60=) | ClinVar |
| 11 | g.67490098A>C | CA381550622 | AIP | c.506A>C c.340A>C (p.Lys114Gln) n.1041A>C c.468+643A>C (n.468+643A>C) c.160A>C (p.Lys54Gln) c.529A>C (p.Lys177Gln) c.352A>C (p.Lys118Gln) c.349A>C (p.Lys117Gln) c.181A>C (p.Lys61Gln) | |
| 11 | g.67490098A>G | CA381550626 | AIP | c.506A>G c.340A>G (p.Lys114Glu) n.1041A>G c.468+643A>G (n.468+643A>G) c.160A>G (p.Lys54Glu) c.529A>G (p.Lys177Glu) c.352A>G (p.Lys118Glu) c.349A>G (p.Lys117Glu) c.181A>G (p.Lys61Glu) | |
| 11 | g.67490098A>T | CA381550620 | AIP | c.506A>T c.340A>T (p.Lys114Ter) n.1041A>T c.468+643A>T (n.468+643A>T) c.160A>T (p.Lys54Ter) c.529A>T (p.Lys177Ter) c.352A>T (p.Lys118Ter) c.349A>T (p.Lys117Ter) c.181A>T (p.Lys61Ter) | |
| 11 | g.67490099A>C | CA381550631 | AIP | c.507A>C c.341A>C (p.Lys114Thr) n.1042A>C c.468+644A>C (n.468+644A>C) c.161A>C (p.Lys54Thr) c.530A>C (p.Lys177Thr) c.353A>C (p.Lys118Thr) c.350A>C (p.Lys117Thr) c.182A>C (p.Lys61Thr) | |
| 11 | g.67490099A>G | CA381550633 | AIP | c.507A>G c.341A>G (p.Lys114Arg) n.1042A>G c.468+644A>G (n.468+644A>G) c.161A>G (p.Lys54Arg) c.530A>G (p.Lys177Arg) c.353A>G (p.Lys118Arg) c.350A>G (p.Lys117Arg) c.182A>G (p.Lys61Arg) | |
| 11 | g.67490099A>T | CA381550635 | AIP | c.507A>T c.341A>T (p.Lys114Met) n.1042A>T c.468+644A>T (n.468+644A>T) c.161A>T (p.Lys54Met) c.530A>T (p.Lys177Met) c.353A>T (p.Lys118Met) c.350A>T (p.Lys117Met) c.182A>T (p.Lys61Met) | |
| 11 | g.67490100G>A | CA475509161 | AIP | c.508G>A c.342G>A (p.Lys114=) n.1043G>A c.468+645G>A (n.468+645G>A) c.162G>A (p.Lys54=) c.531G>A (p.Lys177=) c.354G>A (p.Lys118=) c.351G>A (p.Lys117=) c.183G>A (p.Lys61=) | ClinVar |
| 11 | g.67490100G>C | CA381550638 | AIP | c.508G>C c.342G>C (p.Lys114Asn) n.1043G>C c.468+645G>C (n.468+645G>C) c.162G>C (p.Lys54Asn) c.531G>C (p.Lys177Asn) c.354G>C (p.Lys118Asn) c.351G>C (p.Lys117Asn) c.183G>C (p.Lys61Asn) | |
| 11 | g.67490100G>T | CA381550640 | AIP | c.508G>T c.342G>T (p.Lys114Asn) n.1043G>T c.468+645G>T (n.468+645G>T) c.162G>T (p.Lys54Asn) c.531G>T (p.Lys177Asn) c.354G>T (p.Lys118Asn) c.351G>T (p.Lys117Asn) c.183G>T (p.Lys61Asn) | |
| 11 | g.67490101G>A | CA6140865 | AIP | c.509G>A c.343G>A (p.Ala115Thr) n.1044G>A c.468+646G>A (n.468+646G>A) c.163G>A (p.Ala55Thr) c.532G>A (p.Ala178Thr) c.355G>A (p.Ala119Thr) c.352G>A (p.Ala118Thr) c.184G>A (p.Ala62Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490101G>C | CA381550645 | AIP | c.509G>C c.343G>C (p.Ala115Pro) n.1044G>C c.468+646G>C (n.468+646G>C) c.163G>C (p.Ala55Pro) c.532G>C (p.Ala178Pro) c.355G>C (p.Ala119Pro) c.352G>C (p.Ala118Pro) c.184G>C (p.Ala62Pro) | |
| 11 | g.67490101G= | CA1980172294 | AIP | c.509G= c.343G= (p.Ala115=) n.1044G= c.468+646G= (n.468+646G=) c.163G= (p.Ala55=) c.532G= (p.Ala178=) c.355G= (p.Ala119=) c.352G= (p.Ala118=) c.184G= (p.Ala62=) | |
| 11 | g.67490101G>T | CA381550649 | AIP | c.509G>T c.343G>T (p.Ala115Ser) n.1044G>T c.468+646G>T (n.468+646G>T) c.163G>T (p.Ala55Ser) c.532G>T (p.Ala178Ser) c.355G>T (p.Ala119Ser) c.352G>T (p.Ala118Ser) c.184G>T (p.Ala62Ser) | |
| 11 | g.67490102C>A | CA381550654 | AIP | c.510C>A c.344C>A (p.Ala115Glu) n.1045C>A c.468+647C>A (n.468+647C>A) c.164C>A (p.Ala55Glu) c.533C>A (p.Ala178Glu) c.356C>A (p.Ala119Glu) c.353C>A (p.Ala118Glu) c.185C>A (p.Ala62Glu) | |
| 11 | g.67490102C= | CA1980172295 | AIP | c.510C= c.344C= (p.Ala115=) n.1045C= c.468+647C= (n.468+647C=) c.164C= (p.Ala55=) c.533C= (p.Ala178=) c.356C= (p.Ala119=) c.353C= (p.Ala118=) c.185C= (p.Ala62=) | |
| 11 | g.67490102C>G | CA381550655 | AIP | c.510C>G c.344C>G (p.Ala115Gly) n.1045C>G c.468+647C>G (n.468+647C>G) c.164C>G (p.Ala55Gly) c.533C>G (p.Ala178Gly) c.356C>G (p.Ala119Gly) c.353C>G (p.Ala118Gly) c.185C>G (p.Ala62Gly) | |
| 11 | g.67490102C>T | CA6140866 | AIP | c.510C>T c.344C>T (p.Ala115Val) n.1045C>T c.468+647C>T (n.468+647C>T) c.164C>T (p.Ala55Val) c.533C>T (p.Ala178Val) c.356C>T (p.Ala119Val) c.353C>T (p.Ala118Val) c.185C>T (p.Ala62Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490103A= | CA1980172296 | AIP | c.511A= c.345A= (p.Ala115=) n.1046A= c.468+648A= (n.468+648A=) c.165A= (p.Ala55=) c.534A= (p.Ala178=) c.357A= (p.Ala119=) c.354A= (p.Ala118=) c.186A= (p.Ala62=) | |
| 11 | g.67490103A>C | CA475509162 | AIP | c.511A>C c.345A>C (p.Ala115=) n.1046A>C c.468+648A>C (n.468+648A>C) c.165A>C (p.Ala55=) c.534A>C (p.Ala178=) c.357A>C (p.Ala119=) c.354A>C (p.Ala118=) c.186A>C (p.Ala62=) | |
| 11 | g.67490103A>G | CA224164996 | AIP | c.511A>G c.345A>G (p.Ala115=) n.1046A>G c.468+648A>G (n.468+648A>G) c.165A>G (p.Ala55=) c.534A>G (p.Ala178=) c.357A>G (p.Ala119=) c.354A>G (p.Ala118=) c.186A>G (p.Ala62=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490103A>T | CA475509163 | AIP | c.511A>T c.345A>T (p.Ala115=) n.1046A>T c.468+648A>T (n.468+648A>T) c.165A>T (p.Ala55=) c.534A>T (p.Ala178=) c.357A>T (p.Ala119=) c.354A>T (p.Ala118=) c.186A>T (p.Ala62=) | |
| 11 | g.67490104G>A | CA381550659 | AIP | c.512G>A c.346G>A (p.Val116Met) n.1047G>A c.468+649G>A (n.468+649G>A) c.166G>A (p.Val56Met) c.535G>A (p.Val179Met) c.358G>A (p.Val120Met) c.355G>A (p.Val119Met) c.187G>A (p.Val63Met) | |
| 11 | g.67490104G>C | CA381550661 | AIP | c.512G>C c.346G>C (p.Val116Leu) n.1047G>C c.468+649G>C (n.468+649G>C) c.166G>C (p.Val56Leu) c.535G>C (p.Val179Leu) c.358G>C (p.Val120Leu) c.355G>C (p.Val119Leu) c.187G>C (p.Val63Leu) | |
| 11 | g.67490104G>T | CA381550663 | AIP | c.512G>T c.346G>T (p.Val116Leu) n.1047G>T c.468+649G>T (n.468+649G>T) c.166G>T (p.Val56Leu) c.535G>T (p.Val179Leu) c.358G>T (p.Val120Leu) c.355G>T (p.Val119Leu) c.187G>T (p.Val63Leu) | |
| 11 | g.67490105T>A | CA381550671 | AIP | c.513T>A c.347T>A (p.Val116Glu) n.1048T>A c.468+650T>A (n.468+650T>A) c.167T>A (p.Val56Glu) c.536T>A (p.Val179Glu) c.359T>A (p.Val120Glu) c.356T>A (p.Val119Glu) c.188T>A (p.Val63Glu) | |
| 11 | g.67490105T>C | CA381550668 | AIP | c.513T>C c.347T>C (p.Val116Ala) n.1048T>C c.468+650T>C (n.468+650T>C) c.167T>C (p.Val56Ala) c.536T>C (p.Val179Ala) c.359T>C (p.Val120Ala) c.356T>C (p.Val119Ala) c.188T>C (p.Val63Ala) | |
| 11 | g.67490105T>G | CA381550666 | AIP | c.513T>G c.347T>G (p.Val116Gly) n.1048T>G c.468+650T>G (n.468+650T>G) c.167T>G (p.Val56Gly) c.536T>G (p.Val179Gly) c.359T>G (p.Val120Gly) c.356T>G (p.Val119Gly) c.188T>G (p.Val63Gly) | |
| 11 | g.67490106G>A | CA475509164 | AIP | c.514G>A c.348G>A (p.Val116=) n.1049G>A c.468+651G>A (n.468+651G>A) c.168G>A (p.Val56=) c.537G>A (p.Val179=) c.360G>A (p.Val120=) c.357G>A (p.Val119=) c.189G>A (p.Val63=) | gnomAD v4 |
| 11 | g.67490106G>C | CA475509165 | AIP | c.514G>C c.348G>C (p.Val116=) n.1049G>C c.468+651G>C (n.468+651G>C) c.168G>C (p.Val56=) c.537G>C (p.Val179=) c.360G>C (p.Val120=) c.357G>C (p.Val119=) c.189G>C (p.Val63=) | ClinVar |
| 11 | g.67490106G>T | CA475509166 | AIP | c.514G>T c.348G>T (p.Val116=) n.1049G>T c.468+651G>T (n.468+651G>T) c.168G>T (p.Val56=) c.537G>T (p.Val179=) c.360G>T (p.Val120=) c.357G>T (p.Val119=) c.189G>T (p.Val63=) | ClinVar |
| 11 | g.67490107C>A | CA381550673 | AIP | c.515C>A c.349C>A (p.Pro117Thr) n.1050C>A c.468+652C>A (n.468+652C>A) c.169C>A (p.Pro57Thr) c.538C>A (p.Pro180Thr) c.361C>A (p.Pro121Thr) c.358C>A (p.Pro120Thr) c.190C>A (p.Pro64Thr) | |
| 11 | g.67490107C>G | CA381550676 | AIP | c.515C>G c.349C>G (p.Pro117Ala) n.1050C>G c.468+652C>G (n.468+652C>G) c.169C>G (p.Pro57Ala) c.538C>G (p.Pro180Ala) c.361C>G (p.Pro121Ala) c.358C>G (p.Pro120Ala) c.190C>G (p.Pro64Ala) | |
| 11 | g.67490107C>T | CA381550679 | AIP | c.515C>T c.349C>T (p.Pro117Ser) n.1050C>T c.468+652C>T (n.468+652C>T) c.169C>T (p.Pro57Ser) c.538C>T (p.Pro180Ser) c.361C>T (p.Pro121Ser) c.358C>T (p.Pro120Ser) c.190C>T (p.Pro64Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490108C>A | CA381550683 | AIP | c.516C>A c.350C>A (p.Pro117Gln) n.1051C>A c.468+653C>A (n.468+653C>A) c.170C>A (p.Pro57Gln) c.539C>A (p.Pro180Gln) c.362C>A (p.Pro121Gln) c.359C>A (p.Pro120Gln) c.191C>A (p.Pro64Gln) | ClinVar |
| 11 | g.67490108C= | CA1980172297 | AIP | c.516C= c.350C= (p.Pro117=) n.1051C= c.468+653C= (n.468+653C=) c.170C= (p.Pro57=) c.539C= (p.Pro180=) c.362C= (p.Pro121=) c.359C= (p.Pro120=) c.191C= (p.Pro64=) | |
| 11 | g.67490108C>G | CA381550686 | AIP | c.516C>G c.350C>G (p.Pro117Arg) n.1051C>G c.468+653C>G (n.468+653C>G) c.170C>G (p.Pro57Arg) c.539C>G (p.Pro180Arg) c.362C>G (p.Pro121Arg) c.359C>G (p.Pro120Arg) c.191C>G (p.Pro64Arg) | |
| 11 | g.67490108C>T | CA381550688 | AIP | c.516C>T c.350C>T (p.Pro117Leu) n.1051C>T c.468+653C>T (n.468+653C>T) c.170C>T (p.Pro57Leu) c.539C>T (p.Pro180Leu) c.362C>T (p.Pro121Leu) c.359C>T (p.Pro120Leu) c.191C>T (p.Pro64Leu) | ClinVar dbSNP |
| 11 | g.67490109A>C | CA475509169 | AIP | c.517A>C c.351A>C (p.Pro117=) n.1052A>C c.468+654A>C (n.468+654A>C) c.171A>C (p.Pro57=) c.540A>C (p.Pro180=) c.363A>C (p.Pro121=) c.360A>C (p.Pro120=) c.192A>C (p.Pro64=) | ClinVar |
| 11 | g.67490109A>G | CA475509167 | AIP | c.517A>G c.351A>G (p.Pro117=) n.1052A>G c.468+654A>G (n.468+654A>G) c.171A>G (p.Pro57=) c.540A>G (p.Pro180=) c.363A>G (p.Pro121=) c.360A>G (p.Pro120=) c.192A>G (p.Pro64=) | ClinVar dbSNP |
| 11 | g.67490109A>T | CA475509168 | AIP | c.517A>T c.351A>T (p.Pro117=) n.1052A>T c.468+654A>T (n.468+654A>T) c.171A>T (p.Pro57=) c.540A>T (p.Pro180=) c.363A>T (p.Pro121=) c.360A>T (p.Pro120=) c.192A>T (p.Pro64=) | ClinVar |
| 11 | g.67490110C>A | CA381550692 | AIP | c.518C>A c.352C>A (p.Leu118Ile) n.1053C>A c.468+655C>A (n.468+655C>A) c.172C>A (p.Leu58Ile) c.541C>A (p.Leu181Ile) c.364C>A (p.Leu122Ile) c.361C>A (p.Leu121Ile) c.193C>A (p.Leu65Ile) | COSMIC |
| 11 | g.67490110C= | CA1980172299 | AIP | c.518C= c.352C= (p.Leu118=) n.1053C= c.468+655C= (n.468+655C=) c.172C= (p.Leu58=) c.541C= (p.Leu181=) c.364C= (p.Leu122=) c.361C= (p.Leu121=) c.193C= (p.Leu65=) | |
| 11 | g.67490110C>G | CA381550695 | AIP | c.518C>G c.352C>G (p.Leu118Val) n.1053C>G c.468+655C>G (n.468+655C>G) c.172C>G (p.Leu58Val) c.541C>G (p.Leu181Val) c.364C>G (p.Leu122Val) c.361C>G (p.Leu121Val) c.193C>G (p.Leu65Val) | |
| 11 | g.67490110C>T | CA381550696 | AIP | c.518C>T c.352C>T (p.Leu118Phe) n.1053C>T c.468+655C>T (n.468+655C>T) c.172C>T (p.Leu58Phe) c.541C>T (p.Leu181Phe) c.364C>T (p.Leu122Phe) c.361C>T (p.Leu121Phe) c.193C>T (p.Leu65Phe) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490110_67490111delinsCT | CA1980172298 | AIP | c.518_519delinsCT c.352_353delinsCT (p.Leu118=) n.1053_1054delinsCT c.468+655_468+656delinsCT (n.468+655_468+656delinsCT) c.172_173delinsCT (p.Leu58=) c.541_542delinsCT (p.Leu181=) c.364_365delinsCT (p.Leu122=) c.361_362delinsCT (p.Leu121=) c.193_194delinsCT (p.Leu65=) | |
| 11 | g.67490111T>A | CA381550700 | AIP | c.519T>A c.353T>A (p.Leu118His) n.1054T>A c.468+656T>A (n.468+656T>A) c.173T>A (p.Leu58His) c.542T>A (p.Leu181His) c.365T>A (p.Leu122His) c.362T>A (p.Leu121His) c.194T>A (p.Leu65His) | |
| 11 | g.67490111T>C | CA381550702 | AIP | c.519T>C c.353T>C (p.Leu118Pro) n.1054T>C c.468+656T>C (n.468+656T>C) c.173T>C (p.Leu58Pro) c.542T>C (p.Leu181Pro) c.365T>C (p.Leu122Pro) c.362T>C (p.Leu121Pro) c.194T>C (p.Leu65Pro) | |
| 11 | g.67490111T>G | CA381550703 | AIP | c.519T>G c.353T>G (p.Leu118Arg) n.1054T>G c.468+656T>G (n.468+656T>G) c.173T>G (p.Leu58Arg) c.542T>G (p.Leu181Arg) c.365T>G (p.Leu122Arg) c.362T>G (p.Leu121Arg) c.194T>G (p.Leu65Arg) | ClinVar dbSNP gnomAD v2 |
| 11 | g.67490111T= | CA1980172300 | AIP | c.519T= c.353T= (p.Leu118=) n.1054T= c.468+656T= (n.468+656T=) c.173T= (p.Leu58=) c.542T= (p.Leu181=) c.365T= (p.Leu122=) c.362T= (p.Leu121=) c.194T= (p.Leu65=) | |
| 11 | g.67490112del | CA340307 | AIP | c.520del c.354del (p.Ile119SerfsTer14) n.1055del c.468+657del (n.468+657del) c.174del (p.Ile59SerfsTer14) c.543del (p.Ile182SerfsTer14) c.366del (p.Ile123SerfsTer14) c.363del (p.Ile122SerfsTer14) c.195del (p.Ile66SerfsTer14) | ClinVar dbSNP |
| 11 | g.67490112T>A | CA475509170 | AIP | c.520T>A c.354T>A (p.Leu118=) n.1055T>A c.468+657T>A (n.468+657T>A) c.174T>A (p.Leu58=) c.543T>A (p.Leu181=) c.366T>A (p.Leu122=) c.363T>A (p.Leu121=) c.195T>A (p.Leu65=) | |
| 11 | g.67490112T>C | CA475509171 | AIP | c.520T>C c.354T>C (p.Leu118=) n.1055T>C c.468+657T>C (n.468+657T>C) c.174T>C (p.Leu58=) c.543T>C (p.Leu181=) c.366T>C (p.Leu122=) c.363T>C (p.Leu121=) c.195T>C (p.Leu65=) | |
| 11 | g.67490112T>G | CA475509172 | AIP | c.520T>G c.354T>G (p.Leu118=) n.1055T>G c.468+657T>G (n.468+657T>G) c.174T>G (p.Leu58=) c.543T>G (p.Leu181=) c.366T>G (p.Leu122=) c.363T>G (p.Leu121=) c.195T>G (p.Leu65=) | dbSNP |
| 11 | g.67490112T= | CA1980172301 | AIP | c.520T= c.354T= (p.Leu118=) n.1055T= c.468+657T= (n.468+657T=) c.174T= (p.Leu58=) c.543T= (p.Leu181=) c.366T= (p.Leu122=) c.363T= (p.Leu121=) c.195T= (p.Leu65=) | |
| 11 | g.67490113A= | CA1980172302 | AIP | c.521A= c.355A= (p.Ile119=) n.1056A= c.468+658A= (n.468+658A=) c.175A= (p.Ile59=) c.544A= (p.Ile182=) c.367A= (p.Ile123=) c.364A= (p.Ile122=) c.196A= (p.Ile66=) | |
| 11 | g.67490113A>C | CA381550704 | AIP | c.521A>C c.355A>C (p.Ile119Leu) n.1056A>C c.468+658A>C (n.468+658A>C) c.175A>C (p.Ile59Leu) c.544A>C (p.Ile182Leu) c.367A>C (p.Ile123Leu) c.364A>C (p.Ile122Leu) c.196A>C (p.Ile66Leu) | |
| 11 | g.67490113A>G | CA381550706 | AIP | c.521A>G c.355A>G (p.Ile119Val) n.1056A>G c.468+658A>G (n.468+658A>G) c.175A>G (p.Ile59Val) c.544A>G (p.Ile182Val) c.367A>G (p.Ile123Val) c.364A>G (p.Ile122Val) c.196A>G (p.Ile66Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490113A>T | CA381550705 | AIP | c.521A>T c.355A>T (p.Ile119Phe) n.1056A>T c.468+658A>T (n.468+658A>T) c.175A>T (p.Ile59Phe) c.544A>T (p.Ile182Phe) c.367A>T (p.Ile123Phe) c.364A>T (p.Ile122Phe) c.196A>T (p.Ile66Phe) | ClinVar gnomAD v4 |
| 11 | g.67490114T>A | CA381550709 | AIP | c.522T>A c.356T>A (p.Ile119Asn) n.1057T>A c.468+659T>A (n.468+659T>A) c.176T>A (p.Ile59Asn) c.545T>A (p.Ile182Asn) c.368T>A (p.Ile123Asn) c.365T>A (p.Ile122Asn) c.197T>A (p.Ile66Asn) | |
| 11 | g.67490114T>C | CA381550715 | AIP | c.522T>C c.356T>C (p.Ile119Thr) n.1057T>C c.468+659T>C (n.468+659T>C) c.176T>C (p.Ile59Thr) c.545T>C (p.Ile182Thr) c.368T>C (p.Ile123Thr) c.365T>C (p.Ile122Thr) c.197T>C (p.Ile66Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490114T>G | CA381550712 | AIP | c.522T>G c.356T>G (p.Ile119Ser) n.1057T>G c.468+659T>G (n.468+659T>G) c.176T>G (p.Ile59Ser) c.545T>G (p.Ile182Ser) c.368T>G (p.Ile123Ser) c.365T>G (p.Ile122Ser) c.197T>G (p.Ile66Ser) | |
| 11 | g.67490114T= | CA1980172303 | AIP | c.522T= c.356T= (p.Ile119=) n.1057T= c.468+659T= (n.468+659T=) c.176T= (p.Ile59=) c.545T= (p.Ile182=) c.368T= (p.Ile123=) c.365T= (p.Ile122=) c.197T= (p.Ile66=) | |
| 11 | g.67490115C>A | CA475509173 | AIP | c.523C>A c.357C>A (p.Ile119=) n.1058C>A c.468+660C>A (n.468+660C>A) c.177C>A (p.Ile59=) c.546C>A (p.Ile182=) c.369C>A (p.Ile123=) c.366C>A (p.Ile122=) c.198C>A (p.Ile66=) | |
| 11 | g.67490115C>G | CA381550720 | AIP | c.523C>G c.357C>G (p.Ile119Met) n.1058C>G c.468+660C>G (n.468+660C>G) c.177C>G (p.Ile59Met) c.546C>G (p.Ile182Met) c.369C>G (p.Ile123Met) c.366C>G (p.Ile122Met) c.198C>G (p.Ile66Met) | |
| 11 | g.67490115C>T | CA475509174 | AIP | c.523C>T c.357C>T (p.Ile119=) n.1058C>T c.468+660C>T (n.468+660C>T) c.177C>T (p.Ile59=) c.546C>T (p.Ile182=) c.369C>T (p.Ile123=) c.366C>T (p.Ile122=) c.198C>T (p.Ile66=) | ClinVar |
| 11 | g.67490116C>A | CA381550730 | AIP | c.524C>A c.358C>A (p.His120Asn) n.1059C>A c.468+661C>A (n.468+661C>A) c.178C>A (p.His60Asn) c.547C>A (p.His183Asn) c.370C>A (p.His124Asn) c.367C>A (p.His123Asn) c.199C>A (p.His67Asn) | |
| 11 | g.67490116C= | CA1980172304 | AIP | c.524C= c.358C= (p.His120=) n.1059C= c.468+661C= (n.468+661C=) c.178C= (p.His60=) c.547C= (p.His183=) c.370C= (p.His124=) c.367C= (p.His123=) c.199C= (p.His67=) | |
| 11 | g.67490116C>G | CA381550727 | AIP | c.524C>G c.358C>G (p.His120Asp) n.1059C>G c.468+661C>G (n.468+661C>G) c.178C>G (p.His60Asp) c.547C>G (p.His183Asp) c.370C>G (p.His124Asp) c.367C>G (p.His123Asp) c.199C>G (p.His67Asp) | |
| 11 | g.67490116C>T | CA224164998 | AIP | c.524C>T c.358C>T (p.His120Tyr) n.1059C>T c.468+661C>T (n.468+661C>T) c.178C>T (p.His60Tyr) c.547C>T (p.His183Tyr) c.370C>T (p.His124Tyr) c.367C>T (p.His123Tyr) c.199C>T (p.His67Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490117A>C | CA381550734 | AIP | c.525A>C c.359A>C (p.His120Pro) n.1060A>C c.468+662A>C (n.468+662A>C) c.179A>C (p.His60Pro) c.548A>C (p.His183Pro) c.371A>C (p.His124Pro) c.368A>C (p.His123Pro) c.200A>C (p.His67Pro) | |
| 11 | g.67490117A>G | CA381550737 | AIP | c.525A>G c.359A>G (p.His120Arg) n.1060A>G c.468+662A>G (n.468+662A>G) c.179A>G (p.His60Arg) c.548A>G (p.His183Arg) c.371A>G (p.His124Arg) c.368A>G (p.His123Arg) c.200A>G (p.His67Arg) | |
| 11 | g.67490117A>T | CA381550739 | AIP | c.525A>T c.359A>T (p.His120Leu) n.1060A>T c.468+662A>T (n.468+662A>T) c.179A>T (p.His60Leu) c.548A>T (p.His183Leu) c.371A>T (p.His124Leu) c.368A>T (p.His123Leu) c.200A>T (p.His67Leu) | |
| 11 | g.67490118C>A | CA381550744 | AIP | c.526C>A c.360C>A (p.His120Gln) n.1061C>A c.468+663C>A (n.468+663C>A) c.180C>A (p.His60Gln) c.549C>A (p.His183Gln) c.372C>A (p.His124Gln) c.369C>A (p.His123Gln) c.201C>A (p.His67Gln) | |
| 11 | g.67490118C>G | CA381550746 | AIP | c.526C>G c.360C>G (p.His120Gln) n.1061C>G c.468+663C>G (n.468+663C>G) c.180C>G (p.His60Gln) c.549C>G (p.His183Gln) c.372C>G (p.His124Gln) c.369C>G (p.His123Gln) c.201C>G (p.His67Gln) | |
| 11 | g.67490118C>T | CA475509175 | AIP | c.526C>T c.360C>T (p.His120=) n.1061C>T c.468+663C>T (n.468+663C>T) c.180C>T (p.His60=) c.549C>T (p.His183=) c.372C>T (p.His124=) c.369C>T (p.His123=) c.201C>T (p.His67=) | ClinVar |
| 11 | g.67490119C>A | CA6140867 | AIP | c.527C>A c.361C>A (p.Gln121Lys) n.1062C>A c.468+664C>A (n.468+664C>A) c.181C>A (p.Gln61Lys) c.550C>A (p.Gln184Lys) c.373C>A (p.Gln125Lys) c.370C>A (p.Gln124Lys) c.202C>A (p.Gln68Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490119C= | CA1980172305 | AIP | c.527C= c.361C= (p.Gln121=) n.1062C= c.468+664C= (n.468+664C=) c.181C= (p.Gln61=) c.550C= (p.Gln184=) c.373C= (p.Gln125=) c.370C= (p.Gln124=) c.202C= (p.Gln68=) | |
| 11 | g.67490119C>G | CA381550751 | AIP | c.527C>G c.361C>G (p.Gln121Glu) n.1062C>G c.468+664C>G (n.468+664C>G) c.181C>G (p.Gln61Glu) c.550C>G (p.Gln184Glu) c.373C>G (p.Gln125Glu) c.370C>G (p.Gln124Glu) c.202C>G (p.Gln68Glu) | |
| 11 | g.67490119C>T | CA344126 | AIP | c.527C>T c.361C>T (p.Gln121Ter) n.1062C>T c.468+664C>T (n.468+664C>T) c.181C>T (p.Gln61Ter) c.550C>T (p.Gln184Ter) c.373C>T (p.Gln125Ter) c.370C>T (p.Gln124Ter) c.202C>T (p.Gln68Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490120A>C | CA381550758 | AIP | c.528A>C c.362A>C (p.Gln121Pro) n.1063A>C c.468+665A>C (n.468+665A>C) c.182A>C (p.Gln61Pro) c.551A>C (p.Gln184Pro) c.374A>C (p.Gln125Pro) c.371A>C (p.Gln124Pro) c.203A>C (p.Gln68Pro) | |
| 11 | g.67490120A>G | CA381550762 | AIP | c.528A>G c.362A>G (p.Gln121Arg) n.1063A>G c.468+665A>G (n.468+665A>G) c.182A>G (p.Gln61Arg) c.551A>G (p.Gln184Arg) c.374A>G (p.Gln125Arg) c.371A>G (p.Gln124Arg) c.203A>G (p.Gln68Arg) | |
| 11 | g.67490120A>T | CA381550765 | AIP | c.528A>T c.362A>T (p.Gln121Leu) n.1063A>T c.468+665A>T (n.468+665A>T) c.182A>T (p.Gln61Leu) c.551A>T (p.Gln184Leu) c.374A>T (p.Gln125Leu) c.371A>T (p.Gln124Leu) c.203A>T (p.Gln68Leu) | |
| 11 | g.67490123_67490125del | CA2614623231 | AIP | c.531_533del c.365_367del (p.Glu122del) n.1066_1068del c.468+668_468+670del (n.468+668_468+670del) c.185_187del (p.Glu62del) c.554_556del (p.Glu185del) c.377_379del (p.Glu126del) c.374_376del (p.Glu125del) c.206_208del (p.Glu69del) | gnomAD v4 |
| 11 | g.67490121G>A | CA475509177 | AIP | c.529G>A c.363G>A (p.Gln121=) n.1064G>A c.468+666G>A (n.468+666G>A) c.183G>A (p.Gln61=) c.552G>A (p.Gln184=) c.375G>A (p.Gln125=) c.372G>A (p.Gln124=) c.204G>A (p.Gln68=) | |
| 11 | g.67490121G>C | CA381550776 | AIP | c.529G>C c.363G>C (p.Gln121His) n.1064G>C c.468+666G>C (n.468+666G>C) c.183G>C (p.Gln61His) c.552G>C (p.Gln184His) c.375G>C (p.Gln125His) c.372G>C (p.Gln124His) c.204G>C (p.Gln68His) | |
| 11 | g.67490121G>T | CA381550777 | AIP | c.529G>T c.363G>T (p.Gln121His) n.1064G>T c.468+666G>T (n.468+666G>T) c.183G>T (p.Gln61His) c.552G>T (p.Gln184His) c.375G>T (p.Gln125His) c.372G>T (p.Gln124His) c.204G>T (p.Gln68His) | |
| 11 | g.67490122G>A | CA224165001 | AIP | c.530G>A c.364G>A (p.Glu122Lys) n.1065G>A c.468+667G>A (n.468+667G>A) c.184G>A (p.Glu62Lys) c.553G>A (p.Glu185Lys) c.376G>A (p.Glu126Lys) c.373G>A (p.Glu125Lys) c.205G>A (p.Glu69Lys) | ClinVar dbSNP |
| 11 | g.67490122G>C | CA381550784 | AIP | c.530G>C c.364G>C (p.Glu122Gln) n.1065G>C c.468+667G>C (n.468+667G>C) c.184G>C (p.Glu62Gln) c.553G>C (p.Glu185Gln) c.376G>C (p.Glu126Gln) c.373G>C (p.Glu125Gln) c.205G>C (p.Glu69Gln) | |
| 11 | g.67490122G= | CA1980172306 | AIP | c.530G= c.364G= (p.Glu122=) n.1065G= c.468+667G= (n.468+667G=) c.184G= (p.Glu62=) c.553G= (p.Glu185=) c.376G= (p.Glu126=) c.373G= (p.Glu125=) c.205G= (p.Glu69=) | |
| 11 | g.67490122G>T | CA381550781 | AIP | c.530G>T c.364G>T (p.Glu122Ter) n.1065G>T c.468+667G>T (n.468+667G>T) c.184G>T (p.Glu62Ter) c.553G>T (p.Glu185Ter) c.376G>T (p.Glu126Ter) c.373G>T (p.Glu125Ter) c.205G>T (p.Glu69Ter) | ClinVar dbSNP |
| 11 | g.67490123A>C | CA381550787 | AIP | c.531A>C c.365A>C (p.Glu122Ala) n.1066A>C c.468+668A>C (n.468+668A>C) c.185A>C (p.Glu62Ala) c.554A>C (p.Glu185Ala) c.377A>C (p.Glu126Ala) c.374A>C (p.Glu125Ala) c.206A>C (p.Glu69Ala) | |
| 11 | g.67490123A>G | CA381550790 | AIP | c.531A>G c.365A>G (p.Glu122Gly) n.1066A>G c.468+668A>G (n.468+668A>G) c.185A>G (p.Glu62Gly) c.554A>G (p.Glu185Gly) c.377A>G (p.Glu126Gly) c.374A>G (p.Glu125Gly) c.206A>G (p.Glu69Gly) | |
| 11 | g.67490123A>T | CA381550792 | AIP | c.531A>T c.365A>T (p.Glu122Val) n.1066A>T c.468+668A>T (n.468+668A>T) c.185A>T (p.Glu62Val) c.554A>T (p.Glu185Val) c.377A>T (p.Glu126Val) c.374A>T (p.Glu125Val) c.206A>T (p.Glu69Val) | |
| 11 | g.67490124G>A | CA475509179 | AIP | c.532G>A c.366G>A (p.Glu122=) n.1067G>A c.468+669G>A (n.468+669G>A) c.186G>A (p.Glu62=) c.555G>A (p.Glu185=) c.378G>A (p.Glu126=) c.375G>A (p.Glu125=) c.207G>A (p.Glu69=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490124G>C | CA381550796 | AIP | c.532G>C c.366G>C (p.Glu122Asp) n.1067G>C c.468+669G>C (n.468+669G>C) c.186G>C (p.Glu62Asp) c.555G>C (p.Glu185Asp) c.378G>C (p.Glu126Asp) c.375G>C (p.Glu125Asp) c.207G>C (p.Glu69Asp) | |
| 11 | g.67490124G= | CA1980172307 | AIP | c.532G= c.366G= (p.Glu122=) n.1067G= c.468+669G= (n.468+669G=) c.186G= (p.Glu62=) c.555G= (p.Glu185=) c.378G= (p.Glu126=) c.375G= (p.Glu125=) c.207G= (p.Glu69=) | |
| 11 | g.67490124G>T | CA381550799 | AIP | c.532G>T c.366G>T (p.Glu122Asp) n.1067G>T c.468+669G>T (n.468+669G>T) c.186G>T (p.Glu62Asp) c.555G>T (p.Glu185Asp) c.378G>T (p.Glu126Asp) c.375G>T (p.Glu125Asp) c.207G>T (p.Glu69Asp) | |
| 11 | g.67490125G>A | CA381550801 | AIP | c.533G>A c.367G>A (p.Gly123Ser) n.1068G>A c.468+670G>A (n.468+670G>A) c.187G>A (p.Gly63Ser) c.556G>A (p.Gly186Ser) c.379G>A (p.Gly127Ser) c.376G>A (p.Gly126Ser) c.208G>A (p.Gly70Ser) | |
| 11 | g.67490125G>C | CA381550803 | AIP | c.533G>C c.367G>C (p.Gly123Arg) n.1068G>C c.468+670G>C (n.468+670G>C) c.187G>C (p.Gly63Arg) c.556G>C (p.Gly186Arg) c.379G>C (p.Gly127Arg) c.376G>C (p.Gly126Arg) c.208G>C (p.Gly70Arg) | |
| 11 | g.67490125G>T | CA381550807 | AIP | c.533G>T c.367G>T (p.Gly123Cys) n.1068G>T c.468+670G>T (n.468+670G>T) c.187G>T (p.Gly63Cys) c.556G>T (p.Gly186Cys) c.379G>T (p.Gly127Cys) c.376G>T (p.Gly126Cys) c.208G>T (p.Gly70Cys) | |
| 11 | g.67490126G>A | CA381550811 | AIP | c.534G>A c.368G>A (p.Gly123Asp) n.1069G>A c.468+671G>A (n.468+671G>A) c.188G>A (p.Gly63Asp) c.557G>A (p.Gly186Asp) c.380G>A (p.Gly127Asp) c.377G>A (p.Gly126Asp) c.209G>A (p.Gly70Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.67490126G>C | CA381550813 | AIP | c.534G>C c.368G>C (p.Gly123Ala) n.1069G>C c.468+671G>C (n.468+671G>C) c.188G>C (p.Gly63Ala) c.557G>C (p.Gly186Ala) c.380G>C (p.Gly127Ala) c.377G>C (p.Gly126Ala) c.209G>C (p.Gly70Ala) | |
| 11 | g.67490126G= | CA1980172308 | AIP | c.534G= c.368G= (p.Gly123=) n.1069G= c.468+671G= (n.468+671G=) c.188G= (p.Gly63=) c.557G= (p.Gly186=) c.380G= (p.Gly127=) c.377G= (p.Gly126=) c.209G= (p.Gly70=) | |
| 11 | g.67490126G>T | CA381550817 | AIP | c.534G>T c.368G>T (p.Gly123Val) n.1069G>T c.468+671G>T (n.468+671G>T) c.188G>T (p.Gly63Val) c.557G>T (p.Gly186Val) c.380G>T (p.Gly127Val) c.377G>T (p.Gly126Val) c.209G>T (p.Gly70Val) | |
| 11 | g.67490127C>A | CA475509186 | AIP | c.535C>A c.369C>A (p.Gly123=) n.1070C>A c.468+672C>A (n.468+672C>A) c.189C>A (p.Gly63=) c.558C>A (p.Gly186=) c.381C>A (p.Gly127=) c.378C>A (p.Gly126=) c.210C>A (p.Gly70=) | |
| 11 | g.67490127C= | CA1980172309 | AIP | c.535C= c.369C= (p.Gly123=) n.1070C= c.468+672C= (n.468+672C=) c.189C= (p.Gly63=) c.558C= (p.Gly186=) c.381C= (p.Gly127=) c.378C= (p.Gly126=) c.210C= (p.Gly70=) | |
| 11 | g.67490127C>G | CA475509187 | AIP | c.535C>G c.369C>G (p.Gly123=) n.1070C>G c.468+672C>G (n.468+672C>G) c.189C>G (p.Gly63=) c.558C>G (p.Gly186=) c.381C>G (p.Gly127=) c.378C>G (p.Gly126=) c.210C>G (p.Gly70=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490127C>T | CA475509188 | AIP | c.535C>T c.369C>T (p.Gly123=) n.1070C>T c.468+672C>T (n.468+672C>T) c.189C>T (p.Gly63=) c.558C>T (p.Gly186=) c.381C>T (p.Gly127=) c.378C>T (p.Gly126=) c.210C>T (p.Gly70=) | |
| 11 | g.67490128A>C | CA381550823 | AIP | c.536A>C c.370A>C (p.Asn124His) n.1071A>C c.468+673A>C (n.468+673A>C) c.190A>C (p.Asn64His) c.559A>C (p.Asn187His) c.382A>C (p.Asn128His) c.379A>C (p.Asn127His) c.211A>C (p.Asn71His) | |
| 11 | g.67490128A>G | CA381550829 | AIP | c.536A>G c.370A>G (p.Asn124Asp) n.1071A>G c.468+673A>G (n.468+673A>G) c.190A>G (p.Asn64Asp) c.559A>G (p.Asn187Asp) c.382A>G (p.Asn128Asp) c.379A>G (p.Asn127Asp) c.211A>G (p.Asn71Asp) | |
| 11 | g.67490128A>T | CA381550826 | AIP | c.536A>T c.370A>T (p.Asn124Tyr) n.1071A>T c.468+673A>T (n.468+673A>T) c.190A>T (p.Asn64Tyr) c.559A>T (p.Asn187Tyr) c.382A>T (p.Asn128Tyr) c.379A>T (p.Asn127Tyr) c.211A>T (p.Asn71Tyr) | |
| 11 | g.67490129A>C | CA381550833 | AIP | c.537A>C c.371A>C (p.Asn124Thr) n.1072A>C c.468+674A>C (n.468+674A>C) c.191A>C (p.Asn64Thr) c.560A>C (p.Asn187Thr) c.383A>C (p.Asn128Thr) c.380A>C (p.Asn127Thr) c.212A>C (p.Asn71Thr) | |
| 11 | g.67490129A>G | CA381550836 | AIP | c.537A>G c.371A>G (p.Asn124Ser) n.1072A>G c.468+674A>G (n.468+674A>G) c.191A>G (p.Asn64Ser) c.560A>G (p.Asn187Ser) c.383A>G (p.Asn128Ser) c.380A>G (p.Asn127Ser) c.212A>G (p.Asn71Ser) | |
| 11 | g.67490129A>T | CA381550838 | AIP | c.537A>T c.371A>T (p.Asn124Ile) n.1072A>T c.468+674A>T (n.468+674A>T) c.191A>T (p.Asn64Ile) c.560A>T (p.Asn187Ile) c.383A>T (p.Asn128Ile) c.380A>T (p.Asn127Ile) c.212A>T (p.Asn71Ile) | |
| 11 | g.67490130C>A | CA381550841 | AIP | c.538C>A c.372C>A (p.Asn124Lys) n.1073C>A c.468+675C>A (n.468+675C>A) c.192C>A (p.Asn64Lys) c.561C>A (p.Asn187Lys) c.384C>A (p.Asn128Lys) c.381C>A (p.Asn127Lys) c.213C>A (p.Asn71Lys) | |
| 11 | g.67490130C= | CA1980172310 | AIP | c.538C= c.372C= (p.Asn124=) n.1073C= c.468+675C= (n.468+675C=) c.192C= (p.Asn64=) c.561C= (p.Asn187=) c.384C= (p.Asn128=) c.381C= (p.Asn127=) c.213C= (p.Asn71=) | |
| 11 | g.67490130C>G | CA381550845 | AIP | c.538C>G c.372C>G (p.Asn124Lys) n.1073C>G c.468+675C>G (n.468+675C>G) c.192C>G (p.Asn64Lys) c.561C>G (p.Asn187Lys) c.384C>G (p.Asn128Lys) c.381C>G (p.Asn127Lys) c.213C>G (p.Asn71Lys) | |
| 11 | g.67490130C>T | CA6140868 | AIP | c.538C>T c.372C>T (p.Asn124=) n.1073C>T c.468+675C>T (n.468+675C>T) c.192C>T (p.Asn64=) c.561C>T (p.Asn187=) c.384C>T (p.Asn128=) c.381C>T (p.Asn127=) c.213C>T (p.Asn71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490131C>A | CA475509194 | AIP | c.539C>A c.373C>A (p.Arg125=) n.1074C>A c.468+676C>A (n.468+676C>A) c.193C>A (p.Arg65=) c.562C>A (p.Arg188=) c.385C>A (p.Arg129=) c.382C>A (p.Arg128=) c.214C>A (p.Arg72=) | |
| 11 | g.67490131C= | CA1980172311 | AIP | c.539C= c.373C= (p.Arg125=) n.1074C= c.468+676C= (n.468+676C=) c.193C= (p.Arg65=) c.562C= (p.Arg188=) c.385C= (p.Arg129=) c.382C= (p.Arg128=) c.214C= (p.Arg72=) | |
| 11 | g.67490131C>G | CA381550851 | AIP | c.539C>G c.373C>G (p.Arg125Gly) n.1074C>G c.468+676C>G (n.468+676C>G) c.193C>G (p.Arg65Gly) c.562C>G (p.Arg188Gly) c.385C>G (p.Arg129Gly) c.382C>G (p.Arg128Gly) c.214C>G (p.Arg72Gly) | |
| 11 | g.67490131C>T | CA6140869 | AIP | c.539C>T c.373C>T (p.Arg125Trp) n.1074C>T c.468+676C>T (n.468+676C>T) c.193C>T (p.Arg65Trp) c.562C>T (p.Arg188Trp) c.385C>T (p.Arg129Trp) c.382C>T (p.Arg128Trp) c.214C>T (p.Arg72Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490132G>A | CA224165016 | AIP | c.540G>A c.374G>A (p.Arg125Gln) n.1075G>A c.468+677G>A (n.468+677G>A) c.194G>A (p.Arg65Gln) c.563G>A (p.Arg188Gln) c.386G>A (p.Arg129Gln) c.383G>A (p.Arg128Gln) c.215G>A (p.Arg72Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.67490132G>C | CA381550856 | AIP | c.540G>C c.374G>C (p.Arg125Pro) n.1075G>C c.468+677G>C (n.468+677G>C) c.194G>C (p.Arg65Pro) c.563G>C (p.Arg188Pro) c.386G>C (p.Arg129Pro) c.383G>C (p.Arg128Pro) c.215G>C (p.Arg72Pro) | |
| 11 | g.67490132G= | CA1980172312 | AIP | c.540G= c.374G= (p.Arg125=) n.1075G= c.468+677G= (n.468+677G=) c.194G= (p.Arg65=) c.563G= (p.Arg188=) c.386G= (p.Arg129=) c.383G= (p.Arg128=) c.215G= (p.Arg72=) | |
| 11 | g.67490132G>T | CA381550858 | AIP | c.540G>T c.374G>T (p.Arg125Leu) n.1075G>T c.468+677G>T (n.468+677G>T) c.194G>T (p.Arg65Leu) c.563G>T (p.Arg188Leu) c.386G>T (p.Arg129Leu) c.383G>T (p.Arg128Leu) c.215G>T (p.Arg72Leu) | |
| 11 | g.67490133G>A | CA475509196 | AIP | c.541G>A c.375G>A (p.Arg125=) n.1076G>A c.468+678G>A (n.468+678G>A) c.195G>A (p.Arg65=) c.564G>A (p.Arg188=) c.387G>A (p.Arg129=) c.384G>A (p.Arg128=) c.216G>A (p.Arg72=) | ClinVar |
| 11 | g.67490133G>C | CA475509197 | AIP | c.541G>C c.375G>C (p.Arg125=) n.1076G>C c.468+678G>C (n.468+678G>C) c.195G>C (p.Arg65=) c.564G>C (p.Arg188=) c.387G>C (p.Arg129=) c.384G>C (p.Arg128=) c.216G>C (p.Arg72=) | |
| 11 | g.67490133G>T | CA475509198 | AIP | c.541G>T c.375G>T (p.Arg125=) n.1076G>T c.468+678G>T (n.468+678G>T) c.195G>T (p.Arg65=) c.564G>T (p.Arg188=) c.387G>T (p.Arg129=) c.384G>T (p.Arg128=) c.216G>T (p.Arg72=) | |
| 11 | g.67490133_67490134insCTGCGGCACCCCCTCGAC | CA2534074633 | AIP | c.541_542insCTGCGGCACCCCCTCGAC c.375_376insCTGCGGCACCCCCTCGAC (p.Arg125_Leu126insLeuArgHisProLeuAsp) n.1076_1077insCTGCGGCACCCCCTCGAC c.468+678_468+679insCTGCGGCACCCCCTCGAC (n.468+678_468+679insCTGCGGCACCCCCTCGAC) c.195_196insCTGCGGCACCCCCTCGAC (p.Arg65_Leu66insLeuArgHisProLeuAsp) c.564_565insCTGCGGCACCCCCTCGAC (p.Arg188_Leu189insLeuArgHisProLeuAsp) c.387_388insCTGCGGCACCCCCTCGAC (p.Arg129_Leu130insLeuArgHisProLeuAsp) c.384_385insCTGCGGCACCCCCTCGAC (p.Arg128_Leu129insLeuArgHisProLeuAsp) c.216_217insCTGCGGCACCCCCTCGAC (p.Arg72_Leu73insLeuArgHisProLeuAsp) | |
| 11 | g.67490133_67490134insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC | CA2568274812 | AIP | c.541_542insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC c.375_376insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr127ArgfsTer?) n.1076_1077insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC c.468+678_468+679insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (n.468+678_468+679insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC) c.195_196insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr67ArgfsTer?) c.564_565insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr190ArgfsTer?) c.387_388insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr131ArgfsTer?) c.384_385insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr130ArgfsTer?) c.216_217insCTGCGGCACCCCCTCGACTTTCGTTTCCAGGACGGGACCGCTCGGGTCGACGCCGCCCGCCAGCCACAGGCCATCCAGCTCTCGGTCCATGAGTGCCTCCTTCGCCTCGACCAGGCGC (p.Tyr74ArgfsTer?) | |
| 11 | g.67490134T>A | CA381550861 | AIP | c.542T>A c.376T>A (p.Leu126Met) n.1077T>A c.468+679T>A (n.468+679T>A) c.196T>A (p.Leu66Met) c.565T>A (p.Leu189Met) c.388T>A (p.Leu130Met) c.385T>A (p.Leu129Met) c.217T>A (p.Leu73Met) | |
| 11 | g.67490134T>C | CA475509199 | AIP | c.542T>C c.376T>C (p.Leu126=) n.1077T>C c.468+679T>C (n.468+679T>C) c.196T>C (p.Leu66=) c.565T>C (p.Leu189=) c.388T>C (p.Leu130=) c.385T>C (p.Leu129=) c.217T>C (p.Leu73=) | |
| 11 | g.67490134T>G | CA381550863 | AIP | c.542T>G c.376T>G (p.Leu126Val) n.1077T>G c.468+679T>G (n.468+679T>G) c.196T>G (p.Leu66Val) c.565T>G (p.Leu189Val) c.388T>G (p.Leu130Val) c.385T>G (p.Leu129Val) c.217T>G (p.Leu73Val) | |
| 11 | g.67490135T>A | CA381550867 | AIP | c.543T>A c.377T>A (p.Leu126Ter) n.1078T>A c.468+680T>A (n.468+680T>A) c.197T>A (p.Leu66Ter) c.566T>A (p.Leu189Ter) c.389T>A (p.Leu130Ter) c.386T>A (p.Leu129Ter) c.218T>A (p.Leu73Ter) | |
| 11 | g.67490135T>C | CA381550872 | AIP | c.543T>C c.377T>C (p.Leu126Ser) n.1078T>C c.468+680T>C (n.468+680T>C) c.197T>C (p.Leu66Ser) c.566T>C (p.Leu189Ser) c.389T>C (p.Leu130Ser) c.386T>C (p.Leu129Ser) c.218T>C (p.Leu73Ser) | |
| 11 | g.67490135T>G | CA381550869 | AIP | c.543T>G c.377T>G (p.Leu126Trp) n.1078T>G c.468+680T>G (n.468+680T>G) c.197T>G (p.Leu66Trp) c.566T>G (p.Leu189Trp) c.389T>G (p.Leu130Trp) c.386T>G (p.Leu129Trp) c.218T>G (p.Leu73Trp) | |
| 11 | g.67490135_67490136insTC | CA2507801261 | AIP | c.543_544insTC c.377_378insTC (p.Leu126PhefsTer8) n.1078_1079insTC c.468+680_468+681insTC (n.468+680_468+681insTC) c.197_198insTC (p.Leu66PhefsTer8) c.566_567insTC (p.Leu189PhefsTer8) c.389_390insTC (p.Leu130PhefsTer8) c.386_387insTC (p.Leu129PhefsTer8) c.218_219insTC (p.Leu73PhefsTer8) | |
| 11 | g.67490136G>A | CA475509202 | AIP | c.544G>A c.378G>A (p.Leu126=) n.1079G>A c.468+681G>A (n.468+681G>A) c.198G>A (p.Leu66=) c.567G>A (p.Leu189=) c.390G>A (p.Leu130=) c.387G>A (p.Leu129=) c.219G>A (p.Leu73=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490136G>C | CA6140870 | AIP | c.544G>C c.378G>C (p.Leu126Phe) n.1079G>C c.468+681G>C (n.468+681G>C) c.198G>C (p.Leu66Phe) c.567G>C (p.Leu189Phe) c.390G>C (p.Leu130Phe) c.387G>C (p.Leu129Phe) c.219G>C (p.Leu73Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490136G= | CA1980172313 | AIP | c.544G= c.378G= (p.Leu126=) n.1079G= c.468+681G= (n.468+681G=) c.198G= (p.Leu66=) c.567G= (p.Leu189=) c.390G= (p.Leu130=) c.387G= (p.Leu129=) c.219G= (p.Leu73=) | |
| 11 | g.67490136G>T | CA381550878 | AIP | c.544G>T c.378G>T (p.Leu126Phe) n.1079G>T c.468+681G>T (n.468+681G>T) c.198G>T (p.Leu66Phe) c.567G>T (p.Leu189Phe) c.390G>T (p.Leu130Phe) c.387G>T (p.Leu129Phe) c.219G>T (p.Leu73Phe) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490137T>A | CA381550883 | AIP | c.545T>A c.379T>A (p.Tyr127Asn) n.1080T>A c.468+682T>A (n.468+682T>A) c.199T>A (p.Tyr67Asn) c.568T>A (p.Tyr190Asn) c.391T>A (p.Tyr131Asn) c.388T>A (p.Tyr130Asn) c.220T>A (p.Tyr74Asn) | |
| 11 | g.67490137T>C | CA381550885 | AIP | c.545T>C c.379T>C (p.Tyr127His) n.1080T>C c.468+682T>C (n.468+682T>C) c.199T>C (p.Tyr67His) c.568T>C (p.Tyr190His) c.391T>C (p.Tyr131His) c.388T>C (p.Tyr130His) c.220T>C (p.Tyr74His) | |
| 11 | g.67490137T>G | CA381550889 | AIP | c.545T>G c.379T>G (p.Tyr127Asp) n.1080T>G c.468+682T>G (n.468+682T>G) c.199T>G (p.Tyr67Asp) c.568T>G (p.Tyr190Asp) c.391T>G (p.Tyr131Asp) c.388T>G (p.Tyr130Asp) c.220T>G (p.Tyr74Asp) |