| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |