| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.72230237C>A | CA475866037 | INPPL1 | c.1056C>A (p.Ser352=) c.330C>A (p.Ser110=) c.240C>A (p.Ser80=) c.858C>A (p.Ser286=) c.1122C>A (p.Ser374=) c.1092C>A (p.Ser364=) | |
| 11 | g.72230237C= | CA1981897979 | INPPL1 | c.1056C= (p.Ser352=) c.330C= (p.Ser110=) c.240C= (p.Ser80=) c.858C= (p.Ser286=) c.1122C= (p.Ser374=) c.1092C= (p.Ser364=) | |
| 11 | g.72230237C>G | CA224375936 | INPPL1 | c.1056C>G (p.Ser352=) c.330C>G (p.Ser110=) c.240C>G (p.Ser80=) c.858C>G (p.Ser286=) c.1122C>G (p.Ser374=) c.1092C>G (p.Ser364=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72230237C>T | CA475866036 | INPPL1 | c.1056C>T (p.Ser352=) c.330C>T (p.Ser110=) c.240C>T (p.Ser80=) c.858C>T (p.Ser286=) c.1122C>T (p.Ser374=) c.1092C>T (p.Ser364=) | gnomAD v4 |
| 11 | g.72230238C>A | CA381724660 | INPPL1 | c.1057C>A (p.Gln353Lys) c.331C>A (p.Gln111Lys) c.241C>A (p.Gln81Lys) c.859C>A (p.Gln287Lys) c.1123C>A (p.Gln375Lys) c.1093C>A (p.Gln365Lys) | |
| 11 | g.72230238C= | CA1981897980 | INPPL1 | c.1057C= (p.Gln353=) c.331C= (p.Gln111=) c.241C= (p.Gln81=) c.859C= (p.Gln287=) c.1123C= (p.Gln375=) c.1093C= (p.Gln365=) | |
| 11 | g.72230238C>G | CA6169874 | INPPL1 | c.1057C>G (p.Gln353Glu) c.331C>G (p.Gln111Glu) c.241C>G (p.Gln81Glu) c.859C>G (p.Gln287Glu) c.1123C>G (p.Gln375Glu) c.1093C>G (p.Gln365Glu) | dbSNP ExAC gnomAD v2 |
| 11 | g.72230238C>T | CA381724663 | INPPL1 | c.1057C>T (p.Gln353Ter) c.331C>T (p.Gln111Ter) c.241C>T (p.Gln81Ter) c.859C>T (p.Gln287Ter) c.1123C>T (p.Gln375Ter) c.1093C>T (p.Gln365Ter) | gnomAD v4 |
| 11 | g.72230239A>C | CA381724671 | INPPL1 | c.1058A>C (p.Gln353Pro) c.332A>C (p.Gln111Pro) c.242A>C (p.Gln81Pro) c.860A>C (p.Gln287Pro) c.1124A>C (p.Gln375Pro) c.1094A>C (p.Gln365Pro) | |
| 11 | g.72230239A>G | CA381724667 | INPPL1 | c.1058A>G (p.Gln353Arg) c.332A>G (p.Gln111Arg) c.242A>G (p.Gln81Arg) c.860A>G (p.Gln287Arg) c.1124A>G (p.Gln375Arg) c.1094A>G (p.Gln365Arg) | |
| 11 | g.72230239A>T | CA381724668 | INPPL1 | c.1058A>T (p.Gln353Leu) c.332A>T (p.Gln111Leu) c.242A>T (p.Gln81Leu) c.860A>T (p.Gln287Leu) c.1124A>T (p.Gln375Leu) c.1094A>T (p.Gln365Leu) | |
| 11 | g.72230240G>A | CA475866038 | INPPL1 | c.1059G>A (p.Gln353=) c.333G>A (p.Gln111=) c.243G>A (p.Gln81=) c.861G>A (p.Gln287=) c.1125G>A (p.Gln375=) c.1095G>A (p.Gln365=) | |
| 11 | g.72230240G>C | CA381724676 | INPPL1 | c.1059G>C (p.Gln353His) c.333G>C (p.Gln111His) c.243G>C (p.Gln81His) c.861G>C (p.Gln287His) c.1125G>C (p.Gln375His) c.1095G>C (p.Gln365His) | |
| 11 | g.72230240G= | CA1981897981 | INPPL1 | c.1059G= (p.Gln353=) c.333G= (p.Gln111=) c.243G= (p.Gln81=) c.861G= (p.Gln287=) c.1125G= (p.Gln375=) c.1095G= (p.Gln365=) | |
| 11 | g.72230240G>T | CA6169875 | INPPL1 | c.1059G>T (p.Gln353His) c.333G>T (p.Gln111His) c.243G>T (p.Gln81His) c.861G>T (p.Gln287His) c.1125G>T (p.Gln375His) c.1095G>T (p.Gln365His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.72230241G>A | CA381724680 | INPPL1 | c.1060G>A (p.Glu354Lys) c.334G>A (p.Glu112Lys) c.244G>A (p.Glu82Lys) c.862G>A (p.Glu288Lys) c.1126G>A (p.Glu376Lys) c.1096G>A (p.Glu366Lys) | |
| 11 | g.72230241G>C | CA381724682 | INPPL1 | c.1060G>C (p.Glu354Gln) c.334G>C (p.Glu112Gln) c.244G>C (p.Glu82Gln) c.862G>C (p.Glu288Gln) c.1126G>C (p.Glu376Gln) c.1096G>C (p.Glu366Gln) | |
| 11 | g.72230241G>T | CA381724686 | INPPL1 | c.1060G>T (p.Glu354Ter) c.334G>T (p.Glu112Ter) c.244G>T (p.Glu82Ter) c.862G>T (p.Glu288Ter) c.1126G>T (p.Glu376Ter) c.1096G>T (p.Glu366Ter) | |
| 11 | g.72230242A>C | CA381724695 | INPPL1 | c.1061A>C (p.Glu354Ala) c.335A>C (p.Glu112Ala) c.245A>C (p.Glu82Ala) c.863A>C (p.Glu288Ala) c.1127A>C (p.Glu376Ala) c.1097A>C (p.Glu366Ala) | |
| 11 | g.72230242A>G | CA381724689 | INPPL1 | c.1061A>G (p.Glu354Gly) c.335A>G (p.Glu112Gly) c.245A>G (p.Glu82Gly) c.863A>G (p.Glu288Gly) c.1127A>G (p.Glu376Gly) c.1097A>G (p.Glu366Gly) | |
| 11 | g.72230242A>T | CA381724694 | INPPL1 | c.1061A>T (p.Glu354Val) c.335A>T (p.Glu112Val) c.245A>T (p.Glu82Val) c.863A>T (p.Glu288Val) c.1127A>T (p.Glu376Val) c.1097A>T (p.Glu366Val) | |
| 11 | g.72230243G>A | CA475866039 | INPPL1 | c.1062G>A (p.Glu354=) c.336G>A (p.Glu112=) c.246G>A (p.Glu82=) c.864G>A (p.Glu288=) c.1128G>A (p.Glu376=) c.1098G>A (p.Glu366=) | gnomAD v4 |
| 11 | g.72230243G>C | CA381724698 | INPPL1 | c.1062G>C (p.Glu354Asp) c.336G>C (p.Glu112Asp) c.246G>C (p.Glu82Asp) c.864G>C (p.Glu288Asp) c.1128G>C (p.Glu376Asp) c.1098G>C (p.Glu366Asp) | dbSNP |
| 11 | g.72230243G= | CA1981897982 | INPPL1 | c.1062G= (p.Glu354=) c.336G= (p.Glu112=) c.246G= (p.Glu82=) c.864G= (p.Glu288=) c.1128G= (p.Glu376=) c.1098G= (p.Glu366=) | |
| 11 | g.72230243G>T | CA381724709 | INPPL1 | c.1062G>T (p.Glu354Asp) c.336G>T (p.Glu112Asp) c.246G>T (p.Glu82Asp) c.864G>T (p.Glu288Asp) c.1128G>T (p.Glu376Asp) c.1098G>T (p.Glu366Asp) | |
| 11 | g.72230244G>A | CA381724711 | INPPL1 | c.1063G>A (p.Asp355Asn) c.337G>A (p.Asp113Asn) c.247G>A (p.Asp83Asn) c.865G>A (p.Asp289Asn) c.1129G>A (p.Asp377Asn) c.1099G>A (p.Asp367Asn) | |
| 11 | g.72230244G>C | CA381724715 | INPPL1 | c.1063G>C (p.Asp355His) c.337G>C (p.Asp113His) c.247G>C (p.Asp83His) c.865G>C (p.Asp289His) c.1129G>C (p.Asp377His) c.1099G>C (p.Asp367His) | |
| 11 | g.72230244G>T | CA381724718 | INPPL1 | c.1063G>T (p.Asp355Tyr) c.337G>T (p.Asp113Tyr) c.247G>T (p.Asp83Tyr) c.865G>T (p.Asp289Tyr) c.1129G>T (p.Asp377Tyr) c.1099G>T (p.Asp367Tyr) | |
| 11 | g.72230245A>C | CA381724721 | INPPL1 | c.1064A>C (p.Asp355Ala) c.338A>C (p.Asp113Ala) c.248A>C (p.Asp83Ala) c.866A>C (p.Asp289Ala) c.1130A>C (p.Asp377Ala) c.1100A>C (p.Asp367Ala) | |
| 11 | g.72230245A>G | CA381724723 | INPPL1 | c.1064A>G (p.Asp355Gly) c.338A>G (p.Asp113Gly) c.248A>G (p.Asp83Gly) c.866A>G (p.Asp289Gly) c.1130A>G (p.Asp377Gly) c.1100A>G (p.Asp367Gly) | gnomAD v4 |
| 11 | g.72230245A>T | CA381724726 | INPPL1 | c.1064A>T (p.Asp355Val) c.338A>T (p.Asp113Val) c.248A>T (p.Asp83Val) c.866A>T (p.Asp289Val) c.1130A>T (p.Asp377Val) c.1100A>T (p.Asp367Val) | |
| 11 | g.72230246C>A | CA381724730 | INPPL1 | c.1065C>A (p.Asp355Glu) c.339C>A (p.Asp113Glu) c.249C>A (p.Asp83Glu) c.867C>A (p.Asp289Glu) c.1131C>A (p.Asp377Glu) c.1101C>A (p.Asp367Glu) | |
| 11 | g.72230246C>G | CA381724734 | INPPL1 | c.1065C>G (p.Asp355Glu) c.339C>G (p.Asp113Glu) c.249C>G (p.Asp83Glu) c.867C>G (p.Asp289Glu) c.1131C>G (p.Asp377Glu) c.1101C>G (p.Asp367Glu) | |
| 11 | g.72230246C>T | CA475866040 | INPPL1 | c.1065C>T (p.Asp355=) c.339C>T (p.Asp113=) c.249C>T (p.Asp83=) c.867C>T (p.Asp289=) c.1131C>T (p.Asp377=) c.1101C>T (p.Asp367=) | |
| 11 | g.72230247T>A | CA381724736 | INPPL1 | c.1066T>A (p.Trp356Arg) c.340T>A (p.Trp114Arg) c.250T>A (p.Trp84Arg) c.868T>A (p.Trp290Arg) c.1132T>A (p.Trp378Arg) c.1102T>A (p.Trp368Arg) | |
| 11 | g.72230247T>C | CA381724737 | INPPL1 | c.1066T>C (p.Trp356Arg) c.340T>C (p.Trp114Arg) c.250T>C (p.Trp84Arg) c.868T>C (p.Trp290Arg) c.1132T>C (p.Trp378Arg) c.1102T>C (p.Trp368Arg) | |
| 11 | g.72230247T>G | CA381724738 | INPPL1 | c.1066T>G (p.Trp356Gly) c.340T>G (p.Trp114Gly) c.250T>G (p.Trp84Gly) c.868T>G (p.Trp290Gly) c.1132T>G (p.Trp378Gly) c.1102T>G (p.Trp368Gly) | |
| 11 | g.72230248G>A | CA381724741 | INPPL1 | c.1067G>A (p.Trp356Ter) c.341G>A (p.Trp114Ter) c.251G>A (p.Trp84Ter) c.869G>A (p.Trp290Ter) c.1133G>A (p.Trp378Ter) c.1103G>A (p.Trp368Ter) | |
| 11 | g.72230248G>C | CA381724745 | INPPL1 | c.1067G>C (p.Trp356Ser) c.341G>C (p.Trp114Ser) c.251G>C (p.Trp84Ser) c.869G>C (p.Trp290Ser) c.1133G>C (p.Trp378Ser) c.1103G>C (p.Trp368Ser) | |
| 11 | g.72230248G>T | CA381724742 | INPPL1 | c.1067G>T (p.Trp356Leu) c.341G>T (p.Trp114Leu) c.251G>T (p.Trp84Leu) c.869G>T (p.Trp290Leu) c.1133G>T (p.Trp378Leu) c.1103G>T (p.Trp368Leu) | |
| 11 | g.72230249G>A | CA381724748 | INPPL1 | c.1068G>A (p.Trp356Ter) c.342G>A (p.Trp114Ter) c.252G>A (p.Trp84Ter) c.870G>A (p.Trp290Ter) c.1134G>A (p.Trp378Ter) c.1104G>A (p.Trp368Ter) | gnomAD v4 |
| 11 | g.72230249G>C | CA381724751 | INPPL1 | c.1068G>C (p.Trp356Cys) c.342G>C (p.Trp114Cys) c.252G>C (p.Trp84Cys) c.870G>C (p.Trp290Cys) c.1134G>C (p.Trp378Cys) c.1104G>C (p.Trp368Cys) | |
| 11 | g.72230249G>T | CA381724753 | INPPL1 | c.1068G>T (p.Trp356Cys) c.342G>T (p.Trp114Cys) c.252G>T (p.Trp84Cys) c.870G>T (p.Trp290Cys) c.1134G>T (p.Trp378Cys) c.1104G>T (p.Trp368Cys) | |
| 11 | g.72230250A= | CA1981897983 | INPPL1 | c.1069A= (p.Thr357=) c.343A= (p.Thr115=) c.253A= (p.Thr85=) c.871A= (p.Thr291=) c.1135A= (p.Thr379=) c.1105A= (p.Thr369=) | |
| 11 | g.72230250A>C | CA381724757 | INPPL1 | c.1069A>C (p.Thr357Pro) c.343A>C (p.Thr115Pro) c.253A>C (p.Thr85Pro) c.871A>C (p.Thr291Pro) c.1135A>C (p.Thr379Pro) c.1105A>C (p.Thr369Pro) | dbSNP gnomAD v4 |
| 11 | g.72230250A>G | CA381724759 | INPPL1 | c.1069A>G (p.Thr357Ala) c.343A>G (p.Thr115Ala) c.253A>G (p.Thr85Ala) c.871A>G (p.Thr291Ala) c.1135A>G (p.Thr379Ala) c.1105A>G (p.Thr369Ala) | |
| 11 | g.72230250A>T | CA381724761 | INPPL1 | c.1069A>T (p.Thr357Ser) c.343A>T (p.Thr115Ser) c.253A>T (p.Thr85Ser) c.871A>T (p.Thr291Ser) c.1135A>T (p.Thr379Ser) c.1105A>T (p.Thr369Ser) | gnomAD v4 |
| 11 | g.72230251C>A | CA381724765 | INPPL1 | c.1070C>A (p.Thr357Asn) c.344C>A (p.Thr115Asn) c.254C>A (p.Thr85Asn) c.872C>A (p.Thr291Asn) c.1136C>A (p.Thr379Asn) c.1106C>A (p.Thr369Asn) | gnomAD v4 |
| 11 | g.72230251C>G | CA381724772 | INPPL1 | c.1070C>G (p.Thr357Ser) c.344C>G (p.Thr115Ser) c.254C>G (p.Thr85Ser) c.872C>G (p.Thr291Ser) c.1136C>G (p.Thr379Ser) c.1106C>G (p.Thr369Ser) | |
| 11 | g.72230251C>T | CA381724775 | INPPL1 | c.1070C>T (p.Thr357Ile) c.344C>T (p.Thr115Ile) c.254C>T (p.Thr85Ile) c.872C>T (p.Thr291Ile) c.1136C>T (p.Thr379Ile) c.1106C>T (p.Thr369Ile) |