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.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) | |
| 11 | g.72230252dup | CA2614932146 | INPPL1 | c.1071dup (p.Thr358HisfsTer12) c.345dup (p.Thr116HisfsTer12) c.255dup (p.Thr86HisfsTer12) c.873dup (p.Thr292HisfsTer12) c.1137dup (p.Thr380HisfsTer12) c.1107dup (p.Thr370HisfsTer12) | gnomAD v4 |
| 11 | g.72230252C>A | CA475866041 | INPPL1 | c.1071C>A (p.Thr357=) c.345C>A (p.Thr115=) c.255C>A (p.Thr85=) c.873C>A (p.Thr291=) c.1137C>A (p.Thr379=) c.1107C>A (p.Thr369=) | |
| 11 | g.72230252C= | CA1981897984 | INPPL1 | c.1071C= (p.Thr357=) c.345C= (p.Thr115=) c.255C= (p.Thr85=) c.873C= (p.Thr291=) c.1137C= (p.Thr379=) c.1107C= (p.Thr369=) | |
| 11 | g.72230252C>G | CA475866042 | INPPL1 | c.1071C>G (p.Thr357=) c.345C>G (p.Thr115=) c.255C>G (p.Thr85=) c.873C>G (p.Thr291=) c.1137C>G (p.Thr379=) c.1107C>G (p.Thr369=) | |
| 11 | g.72230252C>T | CA6169876 | INPPL1 | c.1071C>T (p.Thr357=) c.345C>T (p.Thr115=) c.255C>T (p.Thr85=) c.873C>T (p.Thr291=) c.1137C>T (p.Thr379=) c.1107C>T (p.Thr369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.72230253A= | CA1981897985 | INPPL1 | c.1072A= (p.Thr358=) c.346A= (p.Thr116=) c.256A= (p.Thr86=) c.874A= (p.Thr292=) c.1138A= (p.Thr380=) c.1108A= (p.Thr370=) | |
| 11 | g.72230253A>C | CA381724781 | INPPL1 | c.1072A>C (p.Thr358Pro) c.346A>C (p.Thr116Pro) c.256A>C (p.Thr86Pro) c.874A>C (p.Thr292Pro) c.1138A>C (p.Thr380Pro) c.1108A>C (p.Thr370Pro) | |
| 11 | g.72230253A>G | CA6169877 | INPPL1 | c.1072A>G (p.Thr358Ala) c.346A>G (p.Thr116Ala) c.256A>G (p.Thr86Ala) c.874A>G (p.Thr292Ala) c.1138A>G (p.Thr380Ala) c.1108A>G (p.Thr370Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72230253A>T | CA381724784 | INPPL1 | c.1072A>T (p.Thr358Ser) c.346A>T (p.Thr116Ser) c.256A>T (p.Thr86Ser) c.874A>T (p.Thr292Ser) c.1138A>T (p.Thr380Ser) c.1108A>T (p.Thr370Ser) | gnomAD v4 |
| 11 | g.72230254C>A | CA381724794 | INPPL1 | c.1073C>A (p.Thr358Asn) c.347C>A (p.Thr116Asn) c.257C>A (p.Thr86Asn) c.875C>A (p.Thr292Asn) c.1139C>A (p.Thr380Asn) c.1109C>A (p.Thr370Asn) | gnomAD v4 |
| 11 | g.72230254C= | CA1981897986 | INPPL1 | c.1073C= (p.Thr358=) c.347C= (p.Thr116=) c.257C= (p.Thr86=) c.875C= (p.Thr292=) c.1139C= (p.Thr380=) c.1109C= (p.Thr370=) | |
| 11 | g.72230254C>G | CA381724788 | INPPL1 | c.1073C>G (p.Thr358Ser) c.347C>G (p.Thr116Ser) c.257C>G (p.Thr86Ser) c.875C>G (p.Thr292Ser) c.1139C>G (p.Thr380Ser) c.1109C>G (p.Thr370Ser) | |
| 11 | g.72230254C>T | CA381724791 | INPPL1 | c.1073C>T (p.Thr358Ile) c.347C>T (p.Thr116Ile) c.257C>T (p.Thr86Ile) c.875C>T (p.Thr292Ile) c.1139C>T (p.Thr380Ile) c.1109C>T (p.Thr370Ile) | dbSNP gnomAD v2 |
| 11 | g.72230255C>A | CA475866043 | INPPL1 | c.1074C>A (p.Thr358=) c.348C>A (p.Thr116=) c.258C>A (p.Thr86=) c.876C>A (p.Thr292=) c.1140C>A (p.Thr380=) c.1110C>A (p.Thr370=) | |
| 11 | g.72230255C= | CA1981897987 | INPPL1 | c.1074C= (p.Thr358=) c.348C= (p.Thr116=) c.258C= (p.Thr86=) c.876C= (p.Thr292=) c.1140C= (p.Thr380=) c.1110C= (p.Thr370=) | |
| 11 | g.72230255C>G | CA475866044 | INPPL1 | c.1074C>G (p.Thr358=) c.348C>G (p.Thr116=) c.258C>G (p.Thr86=) c.876C>G (p.Thr292=) c.1140C>G (p.Thr380=) c.1110C>G (p.Thr370=) | |
| 11 | g.72230255C>T | CA475866045 | INPPL1 | c.1074C>T (p.Thr358=) c.348C>T (p.Thr116=) c.258C>T (p.Thr86=) c.876C>T (p.Thr292=) c.1140C>T (p.Thr380=) c.1110C>T (p.Thr370=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72230256T>A | CA381724797 | INPPL1 | c.1075T>A (p.Phe359Ile) c.349T>A (p.Phe117Ile) c.259T>A (p.Phe87Ile) c.877T>A (p.Phe293Ile) c.1141T>A (p.Phe381Ile) c.1111T>A (p.Phe371Ile) | |
| 11 | g.72230256T>C | CA381724799 | INPPL1 | c.1075T>C (p.Phe359Leu) c.349T>C (p.Phe117Leu) c.259T>C (p.Phe87Leu) c.877T>C (p.Phe293Leu) c.1141T>C (p.Phe381Leu) c.1111T>C (p.Phe371Leu) | |
| 11 | g.72230256T>G | CA381724802 | INPPL1 | c.1075T>G (p.Phe359Val) c.349T>G (p.Phe117Val) c.259T>G (p.Phe87Val) c.877T>G (p.Phe293Val) c.1141T>G (p.Phe381Val) c.1111T>G (p.Phe371Val) | |
| 11 | g.72230257T>A | CA381724806 | INPPL1 | c.1076T>A (p.Phe359Tyr) c.350T>A (p.Phe117Tyr) c.260T>A (p.Phe87Tyr) c.878T>A (p.Phe293Tyr) c.1142T>A (p.Phe381Tyr) c.1112T>A (p.Phe371Tyr) | |
| 11 | g.72230257T>C | CA381724808 | INPPL1 | c.1076T>C (p.Phe359Ser) c.350T>C (p.Phe117Ser) c.260T>C (p.Phe87Ser) c.878T>C (p.Phe293Ser) c.1142T>C (p.Phe381Ser) c.1112T>C (p.Phe371Ser) | gnomAD v4 |
| 11 | g.72230257T>G | CA381724811 | INPPL1 | c.1076T>G (p.Phe359Cys) c.350T>G (p.Phe117Cys) c.260T>G (p.Phe87Cys) c.878T>G (p.Phe293Cys) c.1142T>G (p.Phe381Cys) c.1112T>G (p.Phe371Cys) | |
| 11 | g.72230258C>A | CA381724814 | INPPL1 | c.1077C>A (p.Phe359Leu) c.351C>A (p.Phe117Leu) c.261C>A (p.Phe87Leu) c.879C>A (p.Phe293Leu) c.1143C>A (p.Phe381Leu) c.1113C>A (p.Phe371Leu) | gnomAD v4 |
| 11 | g.72230258C= | CA1981897988 | INPPL1 | c.1077C= (p.Phe359=) c.351C= (p.Phe117=) c.261C= (p.Phe87=) c.879C= (p.Phe293=) c.1143C= (p.Phe381=) c.1113C= (p.Phe371=) | |
| 11 | g.72230258C>G | CA381724815 | INPPL1 | c.1077C>G (p.Phe359Leu) c.351C>G (p.Phe117Leu) c.261C>G (p.Phe87Leu) c.879C>G (p.Phe293Leu) c.1143C>G (p.Phe381Leu) c.1113C>G (p.Phe371Leu) | |
| 11 | g.72230258C>T | CA6169878 | INPPL1 | c.1077C>T (p.Phe359=) c.351C>T (p.Phe117=) c.261C>T (p.Phe87=) c.879C>T (p.Phe293=) c.1143C>T (p.Phe381=) c.1113C>T (p.Phe371=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72230259A>C | CA381724819 | INPPL1 | c.1078A>C (p.Thr360Pro) c.352A>C (p.Thr118Pro) c.262A>C (p.Thr88Pro) c.880A>C (p.Thr294Pro) c.1144A>C (p.Thr382Pro) c.1114A>C (p.Thr372Pro) | |
| 11 | g.72230259A>G | CA381724822 | INPPL1 | c.1078A>G (p.Thr360Ala) c.352A>G (p.Thr118Ala) c.262A>G (p.Thr88Ala) c.880A>G (p.Thr294Ala) c.1144A>G (p.Thr382Ala) c.1114A>G (p.Thr372Ala) | |
| 11 | g.72230259A>T | CA381724831 | INPPL1 | c.1078A>T (p.Thr360Ser) c.352A>T (p.Thr118Ser) c.262A>T (p.Thr88Ser) c.880A>T (p.Thr294Ser) c.1144A>T (p.Thr382Ser) c.1114A>T (p.Thr372Ser) | |
| 11 | g.72230260C>A | CA6169879 | INPPL1 | c.1079C>A (p.Thr360Lys) c.353C>A (p.Thr118Lys) c.263C>A (p.Thr88Lys) c.881C>A (p.Thr294Lys) c.1145C>A (p.Thr382Lys) c.1115C>A (p.Thr372Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.72230260C= | CA1981897989 | INPPL1 | c.1079C= (p.Thr360=) c.353C= (p.Thr118=) c.263C= (p.Thr88=) c.881C= (p.Thr294=) c.1145C= (p.Thr382=) c.1115C= (p.Thr372=) | |
| 11 | g.72230260C>G | CA381724836 | INPPL1 | c.1079C>G (p.Thr360Arg) c.353C>G (p.Thr118Arg) c.263C>G (p.Thr88Arg) c.881C>G (p.Thr294Arg) c.1145C>G (p.Thr382Arg) c.1115C>G (p.Thr372Arg) | |
| 11 | g.72230260C>T | CA6169880 | INPPL1 | c.1079C>T (p.Thr360Met) c.353C>T (p.Thr118Met) c.263C>T (p.Thr88Met) c.881C>T (p.Thr294Met) c.1145C>T (p.Thr382Met) c.1115C>T (p.Thr372Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |