| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490036A= | CA1980172263 | AIP | c.446-2A= c.280-2A= (n.280-2A=) n.979A= c.468+581A= (n.468+581A=) c.100-2A= (n.100-2A=) c.469-2A= (n.469-2A=) c.292-2A= (n.292-2A=) c.289-2A= (n.289-2A=) c.121-2A= (n.121-2A=) | |
| 11 | g.67490036A>C | CA381550216 | AIP | c.446-2A>C c.280-2A>C (n.280-2A>C) n.979A>C c.468+581A>C (n.468+581A>C) c.100-2A>C (n.100-2A>C) c.469-2A>C (n.469-2A>C) c.292-2A>C (n.292-2A>C) c.289-2A>C (n.289-2A>C) c.121-2A>C (n.121-2A>C) | |
| 11 | g.67490036A>G | CA344115 | AIP | c.446-2A>G c.280-2A>G (n.280-2A>G) n.979A>G c.468+581A>G (n.468+581A>G) c.100-2A>G (n.100-2A>G) c.469-2A>G (n.469-2A>G) c.292-2A>G (n.292-2A>G) c.289-2A>G (n.289-2A>G) c.121-2A>G (n.121-2A>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490036A>T | CA381550217 | AIP | c.446-2A>T c.280-2A>T (n.280-2A>T) n.979A>T c.468+581A>T (n.468+581A>T) c.100-2A>T (n.100-2A>T) c.469-2A>T (n.469-2A>T) c.292-2A>T (n.292-2A>T) c.289-2A>T (n.289-2A>T) c.121-2A>T (n.121-2A>T) | |
| 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 |