| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.1496097_1496099delinsCTG | CA2242889311 | INPP5K | c.1251_1253delinsCAG (p.Asn417=) c.1023_1025delinsCAG (p.Asn341=) c.*842_*844delinsCAG (n.*842_*844delinsCAG) n.363_365delinsCAG c.975_977delinsCAG (p.Asn325=) c.846_848delinsCAG (p.Asn282=) | |
| 17 | g.1496099_1496100del | CA16609679 | INPP5K | c.1251_1252del (p.Asn417LysfsTer26) c.1023_1024del (p.Asn341LysfsTer26) c.*842_*843del (n.*842_*843del) n.363_364del c.975_976del (p.Asn325LysfsTer26) c.846_847del (p.Asn282LysfsTer26) | ClinVar dbSNP |
| 17 | g.1496099G>A | CA497278660 | INPP5K | c.1251C>T (p.Asn417=) c.1023C>T (p.Asn341=) c.*842C>T (n.*842C>T) n.363C>T c.975C>T (p.Asn325=) c.846C>T (p.Asn282=) | |
| 17 | g.1496099G>C | CA397536150 | INPP5K | c.1251C>G (p.Asn417Lys) c.1023C>G (p.Asn341Lys) c.*842C>G (n.*842C>G) n.363C>G c.975C>G (p.Asn325Lys) c.846C>G (p.Asn282Lys) | |
| 17 | g.1496099G= | CA2242889313 | INPP5K | c.1251C= (p.Asn417=) c.1023C= (p.Asn341=) c.*842C= (n.*842C=) n.363C= c.975C= (p.Asn325=) c.846C= (p.Asn282=) | |
| 17 | g.1496099G>T | CA397536153 | INPP5K | c.1251C>A (p.Asn417Lys) c.1023C>A (p.Asn341Lys) c.*842C>A (n.*842C>A) n.363C>A c.975C>A (p.Asn325Lys) c.846C>A (p.Asn282Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1496100T>A | CA397536160 | INPP5K | c.1250A>T (p.Asn417Ile) c.1022A>T (p.Asn341Ile) c.*841A>T (n.*841A>T) n.362A>T c.974A>T (p.Asn325Ile) c.845A>T (p.Asn282Ile) | |
| 17 | g.1496100T>C | CA397536155 | INPP5K | c.1250A>G (p.Asn417Ser) c.1022A>G (p.Asn341Ser) c.*841A>G (n.*841A>G) n.362A>G c.974A>G (p.Asn325Ser) c.845A>G (p.Asn282Ser) | gnomAD v4 |
| 17 | g.1496100T>G | CA397536158 | INPP5K | c.1250A>C (p.Asn417Thr) c.1022A>C (p.Asn341Thr) c.*841A>C (n.*841A>C) n.362A>C c.974A>C (p.Asn325Thr) c.845A>C (p.Asn282Thr) | |
| 17 | g.1496101T>A | CA397536163 | INPP5K | c.1249A>T (p.Asn417Tyr) c.1021A>T (p.Asn341Tyr) c.*840A>T (n.*840A>T) n.361A>T c.973A>T (p.Asn325Tyr) c.844A>T (p.Asn282Tyr) | |
| 17 | g.1496101T>C | CA397536164 | INPP5K | c.1249A>G (p.Asn417Asp) c.1021A>G (p.Asn341Asp) c.*840A>G (n.*840A>G) n.361A>G c.973A>G (p.Asn325Asp) c.844A>G (p.Asn282Asp) | |
| 17 | g.1496101T>G | CA397536165 | INPP5K | c.1249A>C (p.Asn417His) c.1021A>C (p.Asn341His) c.*840A>C (n.*840A>C) n.361A>C c.973A>C (p.Asn325His) c.844A>C (p.Asn282His) | |
| 17 | g.1496102G>A | CA497278664 | INPP5K | c.1248C>T (p.Ser416=) c.1020C>T (p.Ser340=) c.*839C>T (n.*839C>T) n.360C>T c.972C>T (p.Ser324=) c.843C>T (p.Ser281=) | |
| 17 | g.1496102G>C | CA397536166 | INPP5K | c.1248C>G (p.Ser416Arg) c.1020C>G (p.Ser340Arg) c.*839C>G (n.*839C>G) n.360C>G c.972C>G (p.Ser324Arg) c.843C>G (p.Ser281Arg) | |
| 17 | g.1496102G>T | CA286807829 | INPP5K | c.1248C>A (p.Ser416Arg) c.1020C>A (p.Ser340Arg) c.*839C>A (n.*839C>A) n.360C>A c.972C>A (p.Ser324Arg) c.843C>A (p.Ser281Arg) | |
| 17 | g.1496103C>A | CA397536168 | INPP5K | c.1247G>T (p.Ser416Ile) c.1019G>T (p.Ser340Ile) c.*838G>T (n.*838G>T) n.359G>T c.971G>T (p.Ser324Ile) c.842G>T (p.Ser281Ile) | |
| 17 | g.1496103C= | CA2242889314 | INPP5K | c.1247G= (p.Ser416=) c.1019G= (p.Ser340=) c.*838G= (n.*838G=) n.359G= c.971G= (p.Ser324=) c.842G= (p.Ser281=) | |
| 17 | g.1496103C>G | CA8268313 | INPP5K | c.1247G>C (p.Ser416Thr) c.1019G>C (p.Ser340Thr) c.*838G>C (n.*838G>C) n.359G>C c.971G>C (p.Ser324Thr) c.842G>C (p.Ser281Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.1496103C>T | CA397536170 | INPP5K | c.1247G>A (p.Ser416Asn) c.1019G>A (p.Ser340Asn) c.*838G>A (n.*838G>A) n.359G>A c.971G>A (p.Ser324Asn) c.842G>A (p.Ser281Asn) | |
| 17 | g.1496104T>A | CA397536171 | INPP5K | c.1246A>T (p.Ser416Cys) c.1018A>T (p.Ser340Cys) c.*837A>T (n.*837A>T) n.358A>T c.970A>T (p.Ser324Cys) c.841A>T (p.Ser281Cys) | |
| 17 | g.1496104T>C | CA397536172 | INPP5K | c.1246A>G (p.Ser416Gly) c.1018A>G (p.Ser340Gly) c.*837A>G (n.*837A>G) n.358A>G c.970A>G (p.Ser324Gly) c.841A>G (p.Ser281Gly) | |
| 17 | g.1496104T>G | CA397536173 | INPP5K | c.1246A>C (p.Ser416Arg) c.1018A>C (p.Ser340Arg) c.*837A>C (n.*837A>C) n.358A>C c.970A>C (p.Ser324Arg) c.841A>C (p.Ser281Arg) | |
| 17 | g.1496105G>A | CA8268314 | INPP5K | c.1245C>T (p.Tyr415=) c.1017C>T (p.Tyr339=) c.*836C>T (n.*836C>T) n.357C>T c.969C>T (p.Tyr323=) c.840C>T (p.Tyr280=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1496105G>C | CA397536177 | INPP5K | c.1245C>G (p.Tyr415Ter) c.1017C>G (p.Tyr339Ter) c.*836C>G (n.*836C>G) n.357C>G c.969C>G (p.Tyr323Ter) c.840C>G (p.Tyr280Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1496105G= | CA2242889315 | INPP5K | c.1245C= (p.Tyr415=) c.1017C= (p.Tyr339=) c.*836C= (n.*836C=) n.357C= c.969C= (p.Tyr323=) c.840C= (p.Tyr280=) | |
| 17 | g.1496105G>T | CA397536174 | INPP5K | c.1245C>A (p.Tyr415Ter) c.1017C>A (p.Tyr339Ter) c.*836C>A (n.*836C>A) n.357C>A c.969C>A (p.Tyr323Ter) c.840C>A (p.Tyr280Ter) | |
| 17 | g.1496106T>A | CA397536180 | INPP5K | c.1244A>T (p.Tyr415Phe) c.1016A>T (p.Tyr339Phe) c.*835A>T (n.*835A>T) n.356A>T c.968A>T (p.Tyr323Phe) c.839A>T (p.Tyr280Phe) | |
| 17 | g.1496106T>C | CA397536182 | INPP5K | c.1244A>G (p.Tyr415Cys) c.1016A>G (p.Tyr339Cys) c.*835A>G (n.*835A>G) n.356A>G c.968A>G (p.Tyr323Cys) c.839A>G (p.Tyr280Cys) | |
| 17 | g.1496106T>G | CA397536184 | INPP5K | c.1244A>C (p.Tyr415Ser) c.1016A>C (p.Tyr339Ser) c.*835A>C (n.*835A>C) n.356A>C c.968A>C (p.Tyr323Ser) c.839A>C (p.Tyr280Ser) | |
| 17 | g.1496107A>C | CA397536186 | INPP5K | c.1243T>G (p.Tyr415Asp) c.1015T>G (p.Tyr339Asp) c.*834T>G (n.*834T>G) n.355T>G c.967T>G (p.Tyr323Asp) c.838T>G (p.Tyr280Asp) | |
| 17 | g.1496107A>G | CA397536189 | INPP5K | c.1243T>C (p.Tyr415His) c.1015T>C (p.Tyr339His) c.*834T>C (n.*834T>C) n.355T>C c.967T>C (p.Tyr323His) c.838T>C (p.Tyr280His) | |
| 17 | g.1496107A>T | CA397536192 | INPP5K | c.1243T>A (p.Tyr415Asn) c.1015T>A (p.Tyr339Asn) c.*834T>A (n.*834T>A) n.355T>A c.967T>A (p.Tyr323Asn) c.838T>A (p.Tyr280Asn) | |
| 17 | g.1496108G>A | CA497278671 | INPP5K | c.1242C>T (p.Tyr414=) c.1014C>T (p.Tyr338=) c.*833C>T (n.*833C>T) n.354C>T c.966C>T (p.Tyr322=) c.837C>T (p.Tyr279=) | |
| 17 | g.1496108G>C | CA397536196 | INPP5K | c.1242C>G (p.Tyr414Ter) c.1014C>G (p.Tyr338Ter) c.*833C>G (n.*833C>G) n.354C>G c.966C>G (p.Tyr322Ter) c.837C>G (p.Tyr279Ter) | |
| 17 | g.1496108G>T | CA397536197 | INPP5K | c.1242C>A (p.Tyr414Ter) c.1014C>A (p.Tyr338Ter) c.*833C>A (n.*833C>A) n.354C>A c.966C>A (p.Tyr322Ter) c.837C>A (p.Tyr279Ter) | |
| 17 | g.1496109T>A | CA397536199 | INPP5K | c.1241A>T (p.Tyr414Phe) c.1013A>T (p.Tyr338Phe) c.*832A>T (n.*832A>T) n.353A>T c.965A>T (p.Tyr322Phe) c.836A>T (p.Tyr279Phe) | |
| 17 | g.1496109T>C | CA397536202 | INPP5K | c.1241A>G (p.Tyr414Cys) c.1013A>G (p.Tyr338Cys) c.*832A>G (n.*832A>G) n.353A>G c.965A>G (p.Tyr322Cys) c.836A>G (p.Tyr279Cys) | |
| 17 | g.1496109T>G | CA397536205 | INPP5K | c.1241A>C (p.Tyr414Ser) c.1013A>C (p.Tyr338Ser) c.*832A>C (n.*832A>C) n.353A>C c.965A>C (p.Tyr322Ser) c.836A>C (p.Tyr279Ser) | dbSNP |
| 17 | g.1496109T= | CA2242889316 | INPP5K | c.1241A= (p.Tyr414=) c.1013A= (p.Tyr338=) c.*832A= (n.*832A=) n.353A= c.965A= (p.Tyr322=) c.836A= (p.Tyr279=) | |
| 17 | g.1496110A>C | CA397536207 | INPP5K | c.1240T>G (p.Tyr414Asp) c.1012T>G (p.Tyr338Asp) c.*831T>G (n.*831T>G) n.352T>G c.964T>G (p.Tyr322Asp) c.835T>G (p.Tyr279Asp) | |
| 17 | g.1496110A>G | CA397536209 | INPP5K | c.1240T>C (p.Tyr414His) c.1012T>C (p.Tyr338His) c.*831T>C (n.*831T>C) n.352T>C c.964T>C (p.Tyr322His) c.835T>C (p.Tyr279His) | |
| 17 | g.1496110A>T | CA397536212 | INPP5K | c.1240T>A (p.Tyr414Asn) c.1012T>A (p.Tyr338Asn) c.*831T>A (n.*831T>A) n.352T>A c.964T>A (p.Tyr322Asn) c.835T>A (p.Tyr279Asn) | |
| 17 | g.1496111A>C | CA397536221 | INPP5K | c.1239T>G (p.Cys413Trp) c.1011T>G (p.Cys337Trp) c.*830T>G (n.*830T>G) n.351T>G c.963T>G (p.Cys321Trp) c.834T>G (p.Cys278Trp) | |
| 17 | g.1496111A>G | CA497278672 | INPP5K | c.1239T>C (p.Cys413=) c.1011T>C (p.Cys337=) c.*830T>C (n.*830T>C) n.351T>C c.963T>C (p.Cys321=) c.834T>C (p.Cys278=) | |
| 17 | g.1496111A>T | CA397536225 | INPP5K | c.1239T>A (p.Cys413Ter) c.1011T>A (p.Cys337Ter) c.*830T>A (n.*830T>A) n.351T>A c.963T>A (p.Cys321Ter) c.834T>A (p.Cys278Ter) | |
| 17 | g.1496112C>A | CA397536229 | INPP5K | c.1238G>T (p.Cys413Phe) c.1010G>T (p.Cys337Phe) c.*829G>T (n.*829G>T) n.350G>T c.962G>T (p.Cys321Phe) c.833G>T (p.Cys278Phe) | |
| 17 | g.1496112C= | CA2242889318 | INPP5K | c.1238G= (p.Cys413=) c.1010G= (p.Cys337=) c.*829G= (n.*829G=) n.350G= c.962G= (p.Cys321=) c.833G= (p.Cys278=) | |
| 17 | g.1496112C>G | CA397536235 | INPP5K | c.1238G>C (p.Cys413Ser) c.1010G>C (p.Cys337Ser) c.*829G>C (n.*829G>C) n.350G>C c.962G>C (p.Cys321Ser) c.833G>C (p.Cys278Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.1496112C>T | CA397536238 | INPP5K | c.1238G>A (p.Cys413Tyr) c.1010G>A (p.Cys337Tyr) c.*829G>A (n.*829G>A) n.350G>A c.962G>A (p.Cys321Tyr) c.833G>A (p.Cys278Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.1496112_1496114delinsCAG | CA2242889317 | INPP5K | c.1236_1238delinsCTG (p.Leu412=) c.1008_1010delinsCTG (p.Leu336=) c.*827_*829delinsCTG (n.*827_*829delinsCTG) n.348_350delinsCTG c.960_962delinsCTG (p.Leu320=) c.831_833delinsCTG (p.Leu277=) |