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.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 |
| 11 | g.72230261G>A | CA6169881 | INPPL1 | c.1080G>A (p.Thr360=) c.354G>A (p.Thr118=) c.264G>A (p.Thr88=) c.882G>A (p.Thr294=) c.1146G>A (p.Thr382=) c.1116G>A (p.Thr372=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.72230261G>C | CA475866046 | INPPL1 | c.1080G>C (p.Thr360=) c.354G>C (p.Thr118=) c.264G>C (p.Thr88=) c.882G>C (p.Thr294=) c.1146G>C (p.Thr382=) c.1116G>C (p.Thr372=) | |
| 11 | g.72230261G= | CA1981897990 | INPPL1 | c.1080G= (p.Thr360=) c.354G= (p.Thr118=) c.264G= (p.Thr88=) c.882G= (p.Thr294=) c.1146G= (p.Thr382=) c.1116G= (p.Thr372=) | |
| 11 | g.72230261G>T | CA475866047 | INPPL1 | c.1080G>T (p.Thr360=) c.354G>T (p.Thr118=) c.264G>T (p.Thr88=) c.882G>T (p.Thr294=) c.1146G>T (p.Thr382=) c.1116G>T (p.Thr372=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72230262C>A | CA381724847 | INPPL1 | c.1081C>A (p.His361Asn) c.355C>A (p.His119Asn) c.265C>A (p.His89Asn) c.883C>A (p.His295Asn) c.1147C>A (p.His383Asn) c.1117C>A (p.His373Asn) | |
| 11 | g.72230262C= | CA1981897991 | INPPL1 | c.1081C= (p.His361=) c.355C= (p.His119=) c.265C= (p.His89=) c.883C= (p.His295=) c.1147C= (p.His383=) c.1117C= (p.His373=) | |
| 11 | g.72230262C>G | CA6169882 | INPPL1 | c.1081C>G (p.His361Asp) c.355C>G (p.His119Asp) c.265C>G (p.His89Asp) c.883C>G (p.His295Asp) c.1147C>G (p.His383Asp) c.1117C>G (p.His373Asp) | dbSNP ExAC gnomAD v2 |
| 11 | g.72230262C>T | CA381724849 | INPPL1 | c.1081C>T (p.His361Tyr) c.355C>T (p.His119Tyr) c.265C>T (p.His89Tyr) c.883C>T (p.His295Tyr) c.1147C>T (p.His383Tyr) c.1117C>T (p.His373Tyr) | |
| 11 | g.72230263A= | CA1981897992 | INPPL1 | c.1082A= (p.His361=) c.356A= (p.His119=) c.266A= (p.His89=) c.884A= (p.His295=) c.1148A= (p.His383=) c.1118A= (p.His373=) | |
| 11 | g.72230263A>C | CA381724853 | INPPL1 | c.1082A>C (p.His361Pro) c.356A>C (p.His119Pro) c.266A>C (p.His89Pro) c.884A>C (p.His295Pro) c.1148A>C (p.His383Pro) c.1118A>C (p.His373Pro) | |
| 11 | g.72230263A>G | CA6169883 | INPPL1 | c.1082A>G (p.His361Arg) c.356A>G (p.His119Arg) c.266A>G (p.His89Arg) c.884A>G (p.His295Arg) c.1148A>G (p.His383Arg) c.1118A>G (p.His373Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.72230263A>T | CA381724856 | INPPL1 | c.1082A>T (p.His361Leu) c.356A>T (p.His119Leu) c.266A>T (p.His89Leu) c.884A>T (p.His295Leu) c.1148A>T (p.His383Leu) c.1118A>T (p.His373Leu) | |
| 11 | g.72230264C>A | CA381724857 | INPPL1 | c.1083C>A (p.His361Gln) c.357C>A (p.His119Gln) c.267C>A (p.His89Gln) c.885C>A (p.His295Gln) c.1149C>A (p.His383Gln) c.1119C>A (p.His373Gln) |