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.72230149T>A | CA381723808 | INPPL1 | c.968T>A (p.Leu323Gln) c.242T>A (p.Leu81Gln) c.152T>A (p.Leu51Gln) c.770T>A (p.Leu257Gln) c.1034T>A (p.Leu345Gln) c.1004T>A (p.Leu335Gln) | |
| 11 | g.72230149T>C | CA381723813 | INPPL1 | c.968T>C (p.Leu323Pro) c.242T>C (p.Leu81Pro) c.152T>C (p.Leu51Pro) c.770T>C (p.Leu257Pro) c.1034T>C (p.Leu345Pro) c.1004T>C (p.Leu335Pro) | gnomAD v4 |
| 11 | g.72230149T>G | CA381723817 | INPPL1 | c.968T>G (p.Leu323Arg) c.242T>G (p.Leu81Arg) c.152T>G (p.Leu51Arg) c.770T>G (p.Leu257Arg) c.1034T>G (p.Leu345Arg) c.1004T>G (p.Leu335Arg) | |
| 11 | g.72230151_72230160dup | CA2573147665 | INPPL1 | c.970_979dup (p.Gly327AspfsTer?) c.244_253dup (p.Gly85AspfsTer?) c.154_163dup (p.Gly55AspfsTer?) c.772_781dup (p.Gly261AspfsTer?) c.1036_1045dup (p.Gly349AspfsTer?) c.1006_1015dup (p.Gly339AspfsTer?) | ClinVar dbSNP |
| 11 | g.72230150G>A | CA475865972 | INPPL1 | c.969G>A (p.Leu323=) c.243G>A (p.Leu81=) c.153G>A (p.Leu51=) c.771G>A (p.Leu257=) c.1035G>A (p.Leu345=) c.1005G>A (p.Leu335=) | |
| 11 | g.72230150G>C | CA475865973 | INPPL1 | c.969G>C (p.Leu323=) c.243G>C (p.Leu81=) c.153G>C (p.Leu51=) c.771G>C (p.Leu257=) c.1035G>C (p.Leu345=) c.1005G>C (p.Leu335=) | |
| 11 | g.72230150G>T | CA475865974 | INPPL1 | c.969G>T (p.Leu323=) c.243G>T (p.Leu81=) c.153G>T (p.Leu51=) c.771G>T (p.Leu257=) c.1035G>T (p.Leu345=) c.1005G>T (p.Leu335=) | gnomAD v4 |
| 11 | g.72230151A>C | CA381723823 | INPPL1 | c.970A>C (p.Thr324Pro) c.244A>C (p.Thr82Pro) c.154A>C (p.Thr52Pro) c.772A>C (p.Thr258Pro) c.1036A>C (p.Thr346Pro) c.1006A>C (p.Thr336Pro) | |
| 11 | g.72230151A>G | CA381723821 | INPPL1 | c.970A>G (p.Thr324Ala) c.244A>G (p.Thr82Ala) c.154A>G (p.Thr52Ala) c.772A>G (p.Thr258Ala) c.1036A>G (p.Thr346Ala) c.1006A>G (p.Thr336Ala) | |
| 11 | g.72230151A>T | CA381723819 | INPPL1 | c.970A>T (p.Thr324Ser) c.244A>T (p.Thr82Ser) c.154A>T (p.Thr52Ser) c.772A>T (p.Thr258Ser) c.1036A>T (p.Thr346Ser) c.1006A>T (p.Thr336Ser) | |
| 11 | g.72230151_72230152delinsAC | CA1981897945 | INPPL1 | c.970_971delinsAC (p.Thr324=) c.244_245delinsAC (p.Thr82=) c.154_155delinsAC (p.Thr52=) c.772_773delinsAC (p.Thr258=) c.1036_1037delinsAC (p.Thr346=) c.1006_1007delinsAC (p.Thr336=) | |
| 11 | g.72230152C>A | CA381723825 | INPPL1 | c.971C>A (p.Thr324Asn) c.245C>A (p.Thr82Asn) c.155C>A (p.Thr52Asn) c.773C>A (p.Thr258Asn) c.1037C>A (p.Thr346Asn) c.1007C>A (p.Thr336Asn) | gnomAD v4 |
| 11 | g.72230152C>G | CA381723830 | INPPL1 | c.971C>G (p.Thr324Ser) c.245C>G (p.Thr82Ser) c.155C>G (p.Thr52Ser) c.773C>G (p.Thr258Ser) c.1037C>G (p.Thr346Ser) c.1007C>G (p.Thr336Ser) | |
| 11 | g.72230152C>T | CA381723827 | INPPL1 | c.971C>T (p.Thr324Ile) c.245C>T (p.Thr82Ile) c.155C>T (p.Thr52Ile) c.773C>T (p.Thr258Ile) c.1037C>T (p.Thr346Ile) c.1007C>T (p.Thr336Ile) | |
| 11 | g.72230153del | CA679976559 | INPPL1 | c.972del (p.Lys325ArgfsTer10) c.246del (p.Lys83ArgfsTer10) c.156del (p.Lys53ArgfsTer10) c.774del (p.Lys259ArgfsTer10) c.1038del (p.Lys347ArgfsTer10) c.1008del (p.Lys337ArgfsTer10) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72230153C>A | CA475865975 | INPPL1 | c.972C>A (p.Thr324=) c.246C>A (p.Thr82=) c.156C>A (p.Thr52=) c.774C>A (p.Thr258=) c.1038C>A (p.Thr346=) c.1008C>A (p.Thr336=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72230153C= | CA1981897946 | INPPL1 | c.972C= (p.Thr324=) c.246C= (p.Thr82=) c.156C= (p.Thr52=) c.774C= (p.Thr258=) c.1038C= (p.Thr346=) c.1008C= (p.Thr336=) | |
| 11 | g.72230153C>G | CA475865976 | INPPL1 | c.972C>G (p.Thr324=) c.246C>G (p.Thr82=) c.156C>G (p.Thr52=) c.774C>G (p.Thr258=) c.1038C>G (p.Thr346=) c.1008C>G (p.Thr336=) | |
| 11 | g.72230153C>T | CA475865977 | INPPL1 | c.972C>T (p.Thr324=) c.246C>T (p.Thr82=) c.156C>T (p.Thr52=) c.774C>T (p.Thr258=) c.1038C>T (p.Thr346=) c.1008C>T (p.Thr336=) | |
| 11 | g.72230154A>C | CA381723840 | INPPL1 | c.973A>C (p.Lys325Gln) c.247A>C (p.Lys83Gln) c.157A>C (p.Lys53Gln) c.775A>C (p.Lys259Gln) c.1039A>C (p.Lys347Gln) c.1009A>C (p.Lys337Gln) | |
| 11 | g.72230154A>G | CA381723842 | INPPL1 | c.973A>G (p.Lys325Glu) c.247A>G (p.Lys83Glu) c.157A>G (p.Lys53Glu) c.775A>G (p.Lys259Glu) c.1039A>G (p.Lys347Glu) c.1009A>G (p.Lys337Glu) | |
| 11 | g.72230154A>T | CA381723841 | INPPL1 | c.973A>T (p.Lys325Ter) c.247A>T (p.Lys83Ter) c.157A>T (p.Lys53Ter) c.775A>T (p.Lys259Ter) c.1039A>T (p.Lys347Ter) c.1009A>T (p.Lys337Ter) | |
| 11 | g.72230155A>C | CA381723845 | INPPL1 | c.974A>C (p.Lys325Thr) c.248A>C (p.Lys83Thr) c.158A>C (p.Lys53Thr) c.776A>C (p.Lys259Thr) c.1040A>C (p.Lys347Thr) c.1010A>C (p.Lys337Thr) | |
| 11 | g.72230155A>G | CA381723847 | INPPL1 | c.974A>G (p.Lys325Arg) c.248A>G (p.Lys83Arg) c.158A>G (p.Lys53Arg) c.776A>G (p.Lys259Arg) c.1040A>G (p.Lys347Arg) c.1010A>G (p.Lys337Arg) | |
| 11 | g.72230155A>T | CA381723846 | INPPL1 | c.974A>T (p.Lys325Met) c.248A>T (p.Lys83Met) c.158A>T (p.Lys53Met) c.776A>T (p.Lys259Met) c.1040A>T (p.Lys347Met) c.1010A>T (p.Lys337Met) | |
| 11 | g.72230156G>A | CA475865978 | INPPL1 | c.975G>A (p.Lys325=) c.249G>A (p.Lys83=) c.159G>A (p.Lys53=) c.777G>A (p.Lys259=) c.1041G>A (p.Lys347=) c.1011G>A (p.Lys337=) | |
| 11 | g.72230156G>C | CA381723849 | INPPL1 | c.975G>C (p.Lys325Asn) c.249G>C (p.Lys83Asn) c.159G>C (p.Lys53Asn) c.777G>C (p.Lys259Asn) c.1041G>C (p.Lys347Asn) c.1011G>C (p.Lys337Asn) | |
| 11 | g.72230156G>T | CA381723851 | INPPL1 | c.975G>T (p.Lys325Asn) c.249G>T (p.Lys83Asn) c.159G>T (p.Lys53Asn) c.777G>T (p.Lys259Asn) c.1041G>T (p.Lys347Asn) c.1011G>T (p.Lys337Asn) | |
| 11 | g.72230157A>C | CA381723852 | INPPL1 | c.976A>C (p.Ile326Leu) c.250A>C (p.Ile84Leu) c.160A>C (p.Ile54Leu) c.778A>C (p.Ile260Leu) c.1042A>C (p.Ile348Leu) c.1012A>C (p.Ile338Leu) | |
| 11 | g.72230157A>G | CA381723856 | INPPL1 | c.976A>G (p.Ile326Val) c.250A>G (p.Ile84Val) c.160A>G (p.Ile54Val) c.778A>G (p.Ile260Val) c.1042A>G (p.Ile348Val) c.1012A>G (p.Ile338Val) | |
| 11 | g.72230157A>T | CA381723858 | INPPL1 | c.976A>T (p.Ile326Phe) c.250A>T (p.Ile84Phe) c.160A>T (p.Ile54Phe) c.778A>T (p.Ile260Phe) c.1042A>T (p.Ile348Phe) c.1012A>T (p.Ile338Phe) | |
| 11 | g.72230158T>A | CA381723881 | INPPL1 | c.977T>A (p.Ile326Asn) c.251T>A (p.Ile84Asn) c.161T>A (p.Ile54Asn) c.779T>A (p.Ile260Asn) c.1043T>A (p.Ile348Asn) c.1013T>A (p.Ile338Asn) | |
| 11 | g.72230158T>C | CA381723889 | INPPL1 | c.977T>C (p.Ile326Thr) c.251T>C (p.Ile84Thr) c.161T>C (p.Ile54Thr) c.779T>C (p.Ile260Thr) c.1043T>C (p.Ile348Thr) c.1013T>C (p.Ile338Thr) | gnomAD v4 |
| 11 | g.72230158T>G | CA381723893 | INPPL1 | c.977T>G (p.Ile326Ser) c.251T>G (p.Ile84Ser) c.161T>G (p.Ile54Ser) c.779T>G (p.Ile260Ser) c.1043T>G (p.Ile348Ser) c.1013T>G (p.Ile338Ser) | |
| 11 | g.72230159del | CA2614932043 | INPPL1 | c.978del (p.Ile326MetfsTer9) c.252del (p.Ile84MetfsTer9) c.162del (p.Ile54MetfsTer9) c.780del (p.Ile260MetfsTer9) c.1044del (p.Ile348MetfsTer9) c.1014del (p.Ile338MetfsTer9) | gnomAD v4 |
| 11 | g.72230159T>A | CA475865979 | INPPL1 | c.978T>A (p.Ile326=) c.252T>A (p.Ile84=) c.162T>A (p.Ile54=) c.780T>A (p.Ile260=) c.1044T>A (p.Ile348=) c.1014T>A (p.Ile338=) | |
| 11 | g.72230159T>C | CA475865980 | INPPL1 | c.978T>C (p.Ile326=) c.252T>C (p.Ile84=) c.162T>C (p.Ile54=) c.780T>C (p.Ile260=) c.1044T>C (p.Ile348=) c.1014T>C (p.Ile338=) | |
| 11 | g.72230159T>G | CA381723895 | INPPL1 | c.978T>G (p.Ile326Met) c.252T>G (p.Ile84Met) c.162T>G (p.Ile54Met) c.780T>G (p.Ile260Met) c.1044T>G (p.Ile348Met) c.1014T>G (p.Ile338Met) | |
| 11 | g.72230160G>A | CA381723898 | INPPL1 | c.979G>A (p.Gly327Arg) c.253G>A (p.Gly85Arg) c.163G>A (p.Gly55Arg) c.781G>A (p.Gly261Arg) c.1045G>A (p.Gly349Arg) c.1015G>A (p.Gly339Arg) | dbSNP gnomAD v2 |
| 11 | g.72230160G>C | CA381723900 | INPPL1 | c.979G>C (p.Gly327Arg) c.253G>C (p.Gly85Arg) c.163G>C (p.Gly55Arg) c.781G>C (p.Gly261Arg) c.1045G>C (p.Gly349Arg) c.1015G>C (p.Gly339Arg) | |
| 11 | g.72230160G= | CA1981897947 | INPPL1 | c.979G= (p.Gly327=) c.253G= (p.Gly85=) c.163G= (p.Gly55=) c.781G= (p.Gly261=) c.1045G= (p.Gly349=) c.1015G= (p.Gly339=) | |
| 11 | g.72230160G>T | CA381723913 | INPPL1 | c.979G>T (p.Gly327Trp) c.253G>T (p.Gly85Trp) c.163G>T (p.Gly55Trp) c.781G>T (p.Gly261Trp) c.1045G>T (p.Gly349Trp) c.1015G>T (p.Gly339Trp) | |
| 11 | g.72230161G>A | CA381723929 | INPPL1 | c.980G>A (p.Gly327Glu) c.254G>A (p.Gly85Glu) c.164G>A (p.Gly55Glu) c.782G>A (p.Gly261Glu) c.1046G>A (p.Gly349Glu) c.1016G>A (p.Gly339Glu) | gnomAD v4 |
| 11 | g.72230161G>C | CA381723920 | INPPL1 | c.980G>C (p.Gly327Ala) c.254G>C (p.Gly85Ala) c.164G>C (p.Gly55Ala) c.782G>C (p.Gly261Ala) c.1046G>C (p.Gly349Ala) c.1016G>C (p.Gly339Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72230161G= | CA1981897948 | INPPL1 | c.980G= (p.Gly327=) c.254G= (p.Gly85=) c.164G= (p.Gly55=) c.782G= (p.Gly261=) c.1046G= (p.Gly349=) c.1016G= (p.Gly339=) | |
| 11 | g.72230161G>T | CA381723917 | INPPL1 | c.980G>T (p.Gly327Val) c.254G>T (p.Gly85Val) c.164G>T (p.Gly55Val) c.782G>T (p.Gly261Val) c.1046G>T (p.Gly349Val) c.1016G>T (p.Gly339Val) | |
| 11 | g.72230162G>A | CA475865981 | INPPL1 | c.981G>A (p.Gly327=) c.255G>A (p.Gly85=) c.165G>A (p.Gly55=) c.783G>A (p.Gly261=) c.1047G>A (p.Gly349=) c.1017G>A (p.Gly339=) | |
| 11 | g.72230162G>C | CA475865983 | INPPL1 | c.981G>C (p.Gly327=) c.255G>C (p.Gly85=) c.165G>C (p.Gly55=) c.783G>C (p.Gly261=) c.1047G>C (p.Gly349=) c.1017G>C (p.Gly339=) | |
| 11 | g.72230162G>T | CA475865982 | INPPL1 | c.981G>T (p.Gly327=) c.255G>T (p.Gly85=) c.165G>T (p.Gly55=) c.783G>T (p.Gly261=) c.1047G>T (p.Gly349=) c.1017G>T (p.Gly339=) | |
| 11 | g.72230163A>C | CA381723930 | INPPL1 | c.982A>C (p.Lys328Gln) c.256A>C (p.Lys86Gln) c.166A>C (p.Lys56Gln) c.784A>C (p.Lys262Gln) c.1048A>C (p.Lys350Gln) c.1018A>C (p.Lys340Gln) |