Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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=) | |
17 | g.1496113A>C | CA397536239 | INPP5K | c.1237T>G (p.Cys413Gly) c.1009T>G (p.Cys337Gly) c.*828T>G (n.*828T>G) n.349T>G c.961T>G (p.Cys321Gly) c.832T>G (p.Cys278Gly) | |
17 | g.1496113A>G | CA397536242 | INPP5K | c.1237T>C (p.Cys413Arg) c.1009T>C (p.Cys337Arg) c.*828T>C (n.*828T>C) n.349T>C c.961T>C (p.Cys321Arg) c.832T>C (p.Cys278Arg) | |
17 | g.1496113A>T | CA397536245 | INPP5K | c.1237T>A (p.Cys413Ser) c.1009T>A (p.Cys337Ser) c.*828T>A (n.*828T>A) n.349T>A c.961T>A (p.Cys321Ser) c.832T>A (p.Cys278Ser) | |
17 | g.1496115_1496116del | CA8268315 | INPP5K | c.1236_1237del (p.Cys413LeufsTer?) c.1008_1009del (p.Cys337LeufsTer?) c.*827_*828del (n.*827_*828del) n.348_349del c.960_961del (p.Cys321LeufsTer?) c.831_832del (p.Cys278LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.1496114G>A | CA497278675 | INPP5K | c.1236C>T (p.Leu412=) c.1008C>T (p.Leu336=) c.*827C>T (n.*827C>T) n.348C>T c.960C>T (p.Leu320=) c.831C>T (p.Leu277=) | |
17 | g.1496114G>C | CA8268316 | INPP5K | c.1236C>G (p.Leu412=) c.1008C>G (p.Leu336=) c.*827C>G (n.*827C>G) n.348C>G c.960C>G (p.Leu320=) c.831C>G (p.Leu277=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496114G= | CA2242889319 | INPP5K | c.1236C= (p.Leu412=) c.1008C= (p.Leu336=) c.*827C= (n.*827C=) n.348C= c.960C= (p.Leu320=) c.831C= (p.Leu277=) | |
17 | g.1496114G>T | CA497278674 | INPP5K | c.1236C>A (p.Leu412=) c.1008C>A (p.Leu336=) c.*827C>A (n.*827C>A) n.348C>A c.960C>A (p.Leu320=) c.831C>A (p.Leu277=) | |
17 | g.1496115A>C | CA397536252 | INPP5K | c.1235T>G (p.Leu412Arg) c.1007T>G (p.Leu336Arg) c.*826T>G (n.*826T>G) n.347T>G c.959T>G (p.Leu320Arg) c.830T>G (p.Leu277Arg) | |
17 | g.1496115A>G | CA397536255 | INPP5K | c.1235T>C (p.Leu412Pro) c.1007T>C (p.Leu336Pro) c.*826T>C (n.*826T>C) n.347T>C c.959T>C (p.Leu320Pro) c.830T>C (p.Leu277Pro) | |
17 | g.1496115A>T | CA397536262 | INPP5K | c.1235T>A (p.Leu412His) c.1007T>A (p.Leu336His) c.*826T>A (n.*826T>A) n.347T>A c.959T>A (p.Leu320His) c.830T>A (p.Leu277His) | |
17 | g.1496116G>A | CA397536264 | INPP5K | c.1234C>T (p.Leu412Phe) c.1006C>T (p.Leu336Phe) c.*825C>T (n.*825C>T) n.346C>T c.958C>T (p.Leu320Phe) c.829C>T (p.Leu277Phe) | dbSNP gnomAD v4 |
17 | g.1496116G>C | CA397536268 | INPP5K | c.1234C>G (p.Leu412Val) c.1006C>G (p.Leu336Val) c.*825C>G (n.*825C>G) n.346C>G c.958C>G (p.Leu320Val) c.829C>G (p.Leu277Val) | |
17 | g.1496116G= | CA2242889320 | INPP5K | c.1234C= (p.Leu412=) c.1006C= (p.Leu336=) c.*825C= (n.*825C=) n.346C= c.958C= (p.Leu320=) c.829C= (p.Leu277=) | |
17 | g.1496116G>T | CA397536267 | INPP5K | c.1234C>A (p.Leu412Ile) c.1006C>A (p.Leu336Ile) c.*825C>A (n.*825C>A) n.346C>A c.958C>A (p.Leu320Ile) c.829C>A (p.Leu277Ile) | |
17 | g.1496117G>A | CA497278681 | INPP5K | c.1233C>T (p.Leu411=) c.1005C>T (p.Leu335=) c.*824C>T (n.*824C>T) n.345C>T c.957C>T (p.Leu319=) c.828C>T (p.Leu276=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1496117G>C | CA497278679 | INPP5K | c.1233C>G (p.Leu411=) c.1005C>G (p.Leu335=) c.*824C>G (n.*824C>G) n.345C>G c.957C>G (p.Leu319=) c.828C>G (p.Leu276=) | |
17 | g.1496117G= | CA2242889321 | INPP5K | c.1233C= (p.Leu411=) c.1005C= (p.Leu335=) c.*824C= (n.*824C=) n.345C= c.957C= (p.Leu319=) c.828C= (p.Leu276=) | |
17 | g.1496117G>T | CA497278678 | INPP5K | c.1233C>A (p.Leu411=) c.1005C>A (p.Leu335=) c.*824C>A (n.*824C>A) n.345C>A c.957C>A (p.Leu319=) c.828C>A (p.Leu276=) | |
17 | g.1496118A>C | CA397536270 | INPP5K | c.1232T>G (p.Leu411Arg) c.1004T>G (p.Leu335Arg) c.*823T>G (n.*823T>G) n.344T>G c.956T>G (p.Leu319Arg) c.827T>G (p.Leu276Arg) | |
17 | g.1496118A>G | CA397536272 | INPP5K | c.1232T>C (p.Leu411Pro) c.1004T>C (p.Leu335Pro) c.*823T>C (n.*823T>C) n.344T>C c.956T>C (p.Leu319Pro) c.827T>C (p.Leu276Pro) | |
17 | g.1496118A>T | CA397536271 | INPP5K | c.1232T>A (p.Leu411His) c.1004T>A (p.Leu335His) c.*823T>A (n.*823T>A) n.344T>A c.956T>A (p.Leu319His) c.827T>A (p.Leu276His) | |
17 | g.1496119G>A | CA8268317 | INPP5K | c.1231C>T (p.Leu411Phe) c.1003C>T (p.Leu335Phe) c.*822C>T (n.*822C>T) n.343C>T c.955C>T (p.Leu319Phe) c.826C>T (p.Leu276Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1496119G>C | CA397536277 | INPP5K | c.1231C>G (p.Leu411Val) c.1003C>G (p.Leu335Val) c.*822C>G (n.*822C>G) n.343C>G c.955C>G (p.Leu319Val) c.826C>G (p.Leu276Val) | |
17 | g.1496119G= | CA2242889322 | INPP5K | c.1231C= (p.Leu411=) c.1003C= (p.Leu335=) c.*822C= (n.*822C=) n.343C= c.955C= (p.Leu319=) c.826C= (p.Leu276=) | |
17 | g.1496119G>T | CA397536275 | INPP5K | c.1231C>A (p.Leu411Ile) c.1003C>A (p.Leu335Ile) c.*822C>A (n.*822C>A) n.343C>A c.955C>A (p.Leu319Ile) c.826C>A (p.Leu276Ile) | |
17 | g.1496120A>C | CA397536284 | INPP5K | c.1230T>G (p.Phe410Leu) c.1002T>G (p.Phe334Leu) c.*821T>G (n.*821T>G) n.342T>G c.954T>G (p.Phe318Leu) c.825T>G (p.Phe275Leu) | |
17 | g.1496120A>G | CA497278683 | INPP5K | c.1230T>C (p.Phe410=) c.1002T>C (p.Phe334=) c.*821T>C (n.*821T>C) n.342T>C c.954T>C (p.Phe318=) c.825T>C (p.Phe275=) | |
17 | g.1496120A>T | CA397536286 | INPP5K | c.1230T>A (p.Phe410Leu) c.1002T>A (p.Phe334Leu) c.*821T>A (n.*821T>A) n.342T>A c.954T>A (p.Phe318Leu) c.825T>A (p.Phe275Leu) | |
17 | g.1496121_1496122del | CA2580092427 | INPP5K | c.1229_1230del (p.Phe410SerfsTer?) c.1001_1002del (p.Phe334SerfsTer?) c.*820_*821del (n.*820_*821del) n.341_342del c.953_954del (p.Phe318SerfsTer?) c.824_825del (p.Phe275SerfsTer?) | ClinVar |
17 | g.1496121A= | CA2242889323 | INPP5K | c.1229T= (p.Phe410=) c.1001T= (p.Phe334=) c.*820T= (n.*820T=) n.341T= c.953T= (p.Phe318=) c.824T= (p.Phe275=) | |
17 | g.1496121A>C | CA397536289 | INPP5K | c.1229T>G (p.Phe410Cys) c.1001T>G (p.Phe334Cys) c.*820T>G (n.*820T>G) n.341T>G c.953T>G (p.Phe318Cys) c.824T>G (p.Phe275Cys) | dbSNP |
17 | g.1496121A>G | CA397536291 | INPP5K | c.1229T>C (p.Phe410Ser) c.1001T>C (p.Phe334Ser) c.*820T>C (n.*820T>C) n.341T>C c.953T>C (p.Phe318Ser) c.824T>C (p.Phe275Ser) | |
17 | g.1496121A>T | CA397536295 | INPP5K | c.1229T>A (p.Phe410Tyr) c.1001T>A (p.Phe334Tyr) c.*820T>A (n.*820T>A) n.341T>A c.953T>A (p.Phe318Tyr) c.824T>A (p.Phe275Tyr) | |
17 | g.1496122A>C | CA397536298 | INPP5K | c.1228T>G (p.Phe410Val) c.1000T>G (p.Phe334Val) c.*819T>G (n.*819T>G) n.340T>G c.952T>G (p.Phe318Val) c.823T>G (p.Phe275Val) | |
17 | g.1496122A>G | CA397536302 | INPP5K | c.1228T>C (p.Phe410Leu) c.1000T>C (p.Phe334Leu) c.*819T>C (n.*819T>C) n.340T>C c.952T>C (p.Phe318Leu) c.823T>C (p.Phe275Leu) | gnomAD v4 |
17 | g.1496122A>T | CA397536305 | INPP5K | c.1228T>A (p.Phe410Ile) c.1000T>A (p.Phe334Ile) c.*819T>A (n.*819T>A) n.340T>A c.952T>A (p.Phe318Ile) c.823T>A (p.Phe275Ile) | |
17 | g.1496123C>A | CA397536308 | INPP5K | c.1227G>T (p.Glu409Asp) c.999G>T (p.Glu333Asp) c.*818G>T (n.*818G>T) n.339G>T c.951G>T (p.Glu317Asp) c.822G>T (p.Glu274Asp) | |
17 | g.1496123C= | CA2242889324 | INPP5K | c.1227G= (p.Glu409=) c.999G= (p.Glu333=) c.*818G= (n.*818G=) n.339G= c.951G= (p.Glu317=) c.822G= (p.Glu274=) | |
17 | g.1496123C>G | CA397536311 | INPP5K | c.1227G>C (p.Glu409Asp) c.999G>C (p.Glu333Asp) c.*818G>C (n.*818G>C) n.339G>C c.951G>C (p.Glu317Asp) c.822G>C (p.Glu274Asp) | |
17 | g.1496123C>T | CA8268318 | INPP5K | c.1227G>A (p.Glu409=) c.999G>A (p.Glu333=) c.*818G>A (n.*818G>A) n.339G>A c.951G>A (p.Glu317=) c.822G>A (p.Glu274=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.1496124T>A | CA397536315 | INPP5K | c.1226A>T (p.Glu409Val) c.998A>T (p.Glu333Val) c.*817A>T (n.*817A>T) n.338A>T c.950A>T (p.Glu317Val) c.821A>T (p.Glu274Val) | |
17 | g.1496124T>C | CA397536318 | INPP5K | c.1226A>G (p.Glu409Gly) c.998A>G (p.Glu333Gly) c.*817A>G (n.*817A>G) n.338A>G c.950A>G (p.Glu317Gly) c.821A>G (p.Glu274Gly) | |
17 | g.1496124T>G | CA397536321 | INPP5K | c.1226A>C (p.Glu409Ala) c.998A>C (p.Glu333Ala) c.*817A>C (n.*817A>C) n.338A>C c.950A>C (p.Glu317Ala) c.821A>C (p.Glu274Ala) | |
17 | g.1496125C>A | CA397536329 | INPP5K | c.1225G>T (p.Glu409Ter) c.997G>T (p.Glu333Ter) c.*816G>T (n.*816G>T) n.337G>T c.949G>T (p.Glu317Ter) c.820G>T (p.Glu274Ter) | |
17 | g.1496125C= | CA2242889325 | INPP5K | c.1225G= (p.Glu409=) c.997G= (p.Glu333=) c.*816G= (n.*816G=) n.337G= c.949G= (p.Glu317=) c.820G= (p.Glu274=) | |
17 | g.1496125C>G | CA397536325 | INPP5K | c.1225G>C (p.Glu409Gln) c.997G>C (p.Glu333Gln) c.*816G>C (n.*816G>C) n.337G>C c.949G>C (p.Glu317Gln) c.820G>C (p.Glu274Gln) | |
17 | g.1496125C>T | CA397536328 | INPP5K | c.1225G>A (p.Glu409Lys) c.997G>A (p.Glu333Lys) c.*816G>A (n.*816G>A) n.337G>A c.949G>A (p.Glu317Lys) c.820G>A (p.Glu274Lys) | dbSNP gnomAD v4 |
17 | g.1496126A>C | CA397536330 | INPP5K | c.1224T>G (p.Asp408Glu) c.996T>G (p.Asp332Glu) c.*815T>G (n.*815T>G) n.336T>G c.948T>G (p.Asp316Glu) c.819T>G (p.Asp273Glu) | gnomAD v4 |
17 | g.1496126A>G | CA497278686 | INPP5K | c.1224T>C (p.Asp408=) c.996T>C (p.Asp332=) c.*815T>C (n.*815T>C) n.336T>C c.948T>C (p.Asp316=) c.819T>C (p.Asp273=) | gnomAD v4 |
17 | g.1496126A>T | CA397536332 | INPP5K | c.1224T>A (p.Asp408Glu) c.996T>A (p.Asp332Glu) c.*815T>A (n.*815T>A) n.336T>A c.948T>A (p.Asp316Glu) c.819T>A (p.Asp273Glu) | |
17 | g.1496126dup | CA8268319 | INPP5K | c.1224dup (p.Glu409Ter) c.996dup (p.Glu333Ter) c.*815dup (n.*815dup) n.336dup c.948dup (p.Glu317Ter) c.819dup (p.Glu274Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1496127T>A | CA397536341 | INPP5K | c.1223A>T (p.Asp408Val) c.995A>T (p.Asp332Val) c.*814A>T (n.*814A>T) n.335A>T c.947A>T (p.Asp316Val) c.818A>T (p.Asp273Val) | |
17 | g.1496127T>C | CA397536342 | INPP5K | c.1223A>G (p.Asp408Gly) c.995A>G (p.Asp332Gly) c.*814A>G (n.*814A>G) n.335A>G c.947A>G (p.Asp316Gly) c.818A>G (p.Asp273Gly) | gnomAD v4 |
17 | g.1496127T>G | CA397536343 | INPP5K | c.1223A>C (p.Asp408Ala) c.995A>C (p.Asp332Ala) c.*814A>C (n.*814A>C) n.335A>C c.947A>C (p.Asp316Ala) c.818A>C (p.Asp273Ala) | |
17 | g.1496128C>A | CA397536344 | INPP5K | c.1222G>T (p.Asp408Tyr) c.994G>T (p.Asp332Tyr) c.*813G>T (n.*813G>T) n.334G>T c.946G>T (p.Asp316Tyr) c.817G>T (p.Asp273Tyr) | |
17 | g.1496128C= | CA2242889326 | INPP5K | c.1222G= (p.Asp408=) c.994G= (p.Asp332=) c.*813G= (n.*813G=) n.334G= c.946G= (p.Asp316=) c.817G= (p.Asp273=) | |
17 | g.1496128C>G | CA397536346 | INPP5K | c.1222G>C (p.Asp408His) c.994G>C (p.Asp332His) c.*813G>C (n.*813G>C) n.334G>C c.946G>C (p.Asp316His) c.817G>C (p.Asp273His) | |
17 | g.1496128C>T | CA397536348 | INPP5K | c.1222G>A (p.Asp408Asn) c.994G>A (p.Asp332Asn) c.*813G>A (n.*813G>A) n.334G>A c.946G>A (p.Asp316Asn) c.817G>A (p.Asp273Asn) | dbSNP gnomAD v2 |
17 | g.1496129T>A | CA397536351 | INPP5K | c.1221A>T (p.Glu407Asp) c.993A>T (p.Glu331Asp) c.*812A>T (n.*812A>T) n.333A>T c.945A>T (p.Glu315Asp) c.816A>T (p.Glu272Asp) | |
17 | g.1496129T>C | CA497278689 | INPP5K | c.1221A>G (p.Glu407=) c.993A>G (p.Glu331=) c.*812A>G (n.*812A>G) n.333A>G c.945A>G (p.Glu315=) c.816A>G (p.Glu272=) | |
17 | g.1496129T>G | CA397536352 | INPP5K | c.1221A>C (p.Glu407Asp) c.993A>C (p.Glu331Asp) c.*812A>C (n.*812A>C) n.333A>C c.945A>C (p.Glu315Asp) c.816A>C (p.Glu272Asp) | |
17 | g.1496130T>A | CA397536358 | INPP5K | c.1220A>T (p.Glu407Val) c.992A>T (p.Glu331Val) c.*811A>T (n.*811A>T) n.332A>T c.944A>T (p.Glu315Val) c.815A>T (p.Glu272Val) | |
17 | g.1496130T>C | CA397536356 | INPP5K | c.1220A>G (p.Glu407Gly) c.992A>G (p.Glu331Gly) c.*811A>G (n.*811A>G) n.332A>G c.944A>G (p.Glu315Gly) c.815A>G (p.Glu272Gly) | |
17 | g.1496130T>G | CA397536354 | INPP5K | c.1220A>C (p.Glu407Ala) c.992A>C (p.Glu331Ala) c.*811A>C (n.*811A>C) n.332A>C c.944A>C (p.Glu315Ala) c.815A>C (p.Glu272Ala) | |
17 | g.1496131C>A | CA397536361 | INPP5K | c.1219G>T (p.Glu407Ter) c.991G>T (p.Glu331Ter) c.*810G>T (n.*810G>T) n.331G>T c.943G>T (p.Glu315Ter) c.814G>T (p.Glu272Ter) | |
17 | g.1496131C= | CA2242889327 | INPP5K | c.1219G= (p.Glu407=) c.991G= (p.Glu331=) c.*810G= (n.*810G=) n.331G= c.943G= (p.Glu315=) c.814G= (p.Glu272=) | |
17 | g.1496131C>G | CA397536363 | INPP5K | c.1219G>C (p.Glu407Gln) c.991G>C (p.Glu331Gln) c.*810G>C (n.*810G>C) n.331G>C c.943G>C (p.Glu315Gln) c.814G>C (p.Glu272Gln) | |
17 | g.1496131C>T | CA397536365 | INPP5K | c.1219G>A (p.Glu407Lys) c.991G>A (p.Glu331Lys) c.*810G>A (n.*810G>A) n.331G>A c.943G>A (p.Glu315Lys) c.814G>A (p.Glu272Lys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1496132A>C | CA497278691 | INPP5K | c.1218T>G (p.Thr406=) c.990T>G (p.Thr330=) c.*809T>G (n.*809T>G) n.330T>G c.942T>G (p.Thr314=) c.813T>G (p.Thr271=) | |
17 | g.1496132A>G | CA497278692 | INPP5K | c.1218T>C (p.Thr406=) c.990T>C (p.Thr330=) c.*809T>C (n.*809T>C) n.330T>C c.942T>C (p.Thr314=) c.813T>C (p.Thr271=) | gnomAD v4 |
17 | g.1496132A>T | CA497278693 | INPP5K | c.1218T>A (p.Thr406=) c.990T>A (p.Thr330=) c.*809T>A (n.*809T>A) n.330T>A c.942T>A (p.Thr314=) c.813T>A (p.Thr271=) | |
17 | g.1496133G>A | CA397536367 | INPP5K | c.1217C>T (p.Thr406Ile) c.989C>T (p.Thr330Ile) c.*808C>T (n.*808C>T) n.329C>T c.941C>T (p.Thr314Ile) c.812C>T (p.Thr271Ile) | |
17 | g.1496133G>C | CA397536368 | INPP5K | c.1217C>G (p.Thr406Ser) c.989C>G (p.Thr330Ser) c.*808C>G (n.*808C>G) n.329C>G c.941C>G (p.Thr314Ser) c.812C>G (p.Thr271Ser) | |
17 | g.1496133G>T | CA397536369 | INPP5K | c.1217C>A (p.Thr406Asn) c.989C>A (p.Thr330Asn) c.*808C>A (n.*808C>A) n.329C>A c.941C>A (p.Thr314Asn) c.812C>A (p.Thr271Asn) | |
17 | g.1496134T>A | CA397536370 | INPP5K | c.1216A>T (p.Thr406Ser) c.988A>T (p.Thr330Ser) c.*807A>T (n.*807A>T) n.328A>T c.940A>T (p.Thr314Ser) c.811A>T (p.Thr271Ser) | |
17 | g.1496134T>C | CA397536371 | INPP5K | c.1216A>G (p.Thr406Ala) c.988A>G (p.Thr330Ala) c.*807A>G (n.*807A>G) n.328A>G c.940A>G (p.Thr314Ala) c.811A>G (p.Thr271Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496134T>G | CA397536373 | INPP5K | c.1216A>C (p.Thr406Pro) c.988A>C (p.Thr330Pro) c.*807A>C (n.*807A>C) n.328A>C c.940A>C (p.Thr314Pro) c.811A>C (p.Thr271Pro) | |
17 | g.1496134T= | CA2242889328 | INPP5K | c.1216A= (p.Thr406=) c.988A= (p.Thr330=) c.*807A= (n.*807A=) n.328A= c.940A= (p.Thr314=) c.811A= (p.Thr271=) | |
17 | g.1496135G>A | CA8268320 | INPP5K | c.1215C>T (p.Thr405=) c.987C>T (p.Thr329=) c.*806C>T (n.*806C>T) n.327C>T c.939C>T (p.Thr313=) c.810C>T (p.Thr270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496135G>C | CA497278697 | INPP5K | c.1215C>G (p.Thr405=) c.987C>G (p.Thr329=) c.*806C>G (n.*806C>G) n.327C>G c.939C>G (p.Thr313=) c.810C>G (p.Thr270=) | |
17 | g.1496135G= | CA2242889329 | INPP5K | c.1215C= (p.Thr405=) c.987C= (p.Thr329=) c.*806C= (n.*806C=) n.327C= c.939C= (p.Thr313=) c.810C= (p.Thr270=) | |
17 | g.1496135G>T | CA497278698 | INPP5K | c.1215C>A (p.Thr405=) c.987C>A (p.Thr329=) c.*806C>A (n.*806C>A) n.327C>A c.939C>A (p.Thr313=) c.810C>A (p.Thr270=) | |
17 | g.1496136G>A | CA8268321 | INPP5K | c.1214C>T (p.Thr405Ile) c.986C>T (p.Thr329Ile) c.*805C>T (n.*805C>T) n.326C>T c.938C>T (p.Thr313Ile) c.809C>T (p.Thr270Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1496136G>C | CA397536380 | INPP5K | c.1214C>G (p.Thr405Ser) c.986C>G (p.Thr329Ser) c.*805C>G (n.*805C>G) n.326C>G c.938C>G (p.Thr313Ser) c.809C>G (p.Thr270Ser) | |
17 | g.1496136G= | CA2242889330 | INPP5K | c.1214C= (p.Thr405=) c.986C= (p.Thr329=) c.*805C= (n.*805C=) n.326C= c.938C= (p.Thr313=) c.809C= (p.Thr270=) | |
17 | g.1496136G>T | CA397536383 | INPP5K | c.1214C>A (p.Thr405Asn) c.986C>A (p.Thr329Asn) c.*805C>A (n.*805C>A) n.326C>A c.938C>A (p.Thr313Asn) c.809C>A (p.Thr270Asn) | |
17 | g.1496137T>A | CA397536388 | INPP5K | c.1213A>T (p.Thr405Ser) c.985A>T (p.Thr329Ser) c.*804A>T (n.*804A>T) n.325A>T c.937A>T (p.Thr313Ser) c.808A>T (p.Thr270Ser) | |
17 | g.1496137T>C | CA397536394 | INPP5K | c.1213A>G (p.Thr405Ala) c.985A>G (p.Thr329Ala) c.*804A>G (n.*804A>G) n.325A>G c.937A>G (p.Thr313Ala) c.808A>G (p.Thr270Ala) | |
17 | g.1496137T>G | CA397536391 | INPP5K | c.1213A>C (p.Thr405Pro) c.985A>C (p.Thr329Pro) c.*804A>C (n.*804A>C) n.325A>C c.937A>C (p.Thr313Pro) c.808A>C (p.Thr270Pro) | |
17 | g.1496138A>C | CA497278704 | INPP5K | c.1212T>G (p.Pro404=) c.984T>G (p.Pro328=) c.*803T>G (n.*803T>G) n.324T>G c.936T>G (p.Pro312=) c.807T>G (p.Pro269=) | |
17 | g.1496138A>G | CA497278703 | INPP5K | c.1212T>C (p.Pro404=) c.984T>C (p.Pro328=) c.*803T>C (n.*803T>C) n.324T>C c.936T>C (p.Pro312=) c.807T>C (p.Pro269=) | COSMIC COSMIC |
17 | g.1496138A>T | CA497278702 | INPP5K | c.1212T>A (p.Pro404=) c.984T>A (p.Pro328=) c.*803T>A (n.*803T>A) n.324T>A c.936T>A (p.Pro312=) c.807T>A (p.Pro269=) | |
17 | g.1496139G>A | CA397536396 | INPP5K | c.1211C>T (p.Pro404Leu) c.983C>T (p.Pro328Leu) c.*802C>T (n.*802C>T) n.323C>T c.935C>T (p.Pro312Leu) c.806C>T (p.Pro269Leu) | |
17 | g.1496139G>C | CA397536398 | INPP5K | c.1211C>G (p.Pro404Arg) c.983C>G (p.Pro328Arg) c.*802C>G (n.*802C>G) n.323C>G c.935C>G (p.Pro312Arg) c.806C>G (p.Pro269Arg) | |
17 | g.1496139G>T | CA397536400 | INPP5K | c.1211C>A (p.Pro404His) c.983C>A (p.Pro328His) c.*802C>A (n.*802C>A) n.323C>A c.935C>A (p.Pro312His) c.806C>A (p.Pro269His) | |
17 | g.1496140G>A | CA397536402 | INPP5K | c.1210C>T (p.Pro404Ser) c.982C>T (p.Pro328Ser) c.*801C>T (n.*801C>T) n.322C>T c.934C>T (p.Pro312Ser) c.805C>T (p.Pro269Ser) | |
17 | g.1496140G>C | CA8268322 | INPP5K | c.1210C>G (p.Pro404Ala) c.982C>G (p.Pro328Ala) c.*801C>G (n.*801C>G) n.322C>G c.934C>G (p.Pro312Ala) c.805C>G (p.Pro269Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1496140G= | CA2242889331 | INPP5K | c.1210C= (p.Pro404=) c.982C= (p.Pro328=) c.*801C= (n.*801C=) n.322C= c.934C= (p.Pro312=) c.805C= (p.Pro269=) | |
17 | g.1496140G>T | CA397536405 | INPP5K | c.1210C>A (p.Pro404Thr) c.982C>A (p.Pro328Thr) c.*801C>A (n.*801C>A) n.322C>A c.934C>A (p.Pro312Thr) c.805C>A (p.Pro269Thr) | |
17 | g.1496141G>A | CA497278705 | INPP5K | c.1209C>T (p.Ile403=) c.981C>T (p.Ile327=) c.*800C>T (n.*800C>T) n.321C>T c.933C>T (p.Ile311=) c.804C>T (p.Ile268=) | |
17 | g.1496141G>C | CA397536407 | INPP5K | c.1209C>G (p.Ile403Met) c.981C>G (p.Ile327Met) c.*800C>G (n.*800C>G) n.321C>G c.933C>G (p.Ile311Met) c.804C>G (p.Ile268Met) | |
17 | g.1496141G= | CA2242889332 | INPP5K | c.1209C= (p.Ile403=) c.981C= (p.Ile327=) c.*800C= (n.*800C=) n.321C= c.933C= (p.Ile311=) c.804C= (p.Ile268=) | |
17 | g.1496141G>T | CA497278706 | INPP5K | c.1209C>A (p.Ile403=) c.981C>A (p.Ile327=) c.*800C>A (n.*800C>A) n.321C>A c.933C>A (p.Ile311=) c.804C>A (p.Ile268=) | dbSNP |
17 | g.1496142A= | CA2242889333 | INPP5K | c.1208T= (p.Ile403=) c.980T= (p.Ile327=) c.*799T= (n.*799T=) n.320T= c.932T= (p.Ile311=) c.803T= (p.Ile268=) | |
17 | g.1496142A>C | CA397536410 | INPP5K | c.1208T>G (p.Ile403Ser) c.980T>G (p.Ile327Ser) c.*799T>G (n.*799T>G) n.320T>G c.932T>G (p.Ile311Ser) c.803T>G (p.Ile268Ser) | |
17 | g.1496142A>G | CA397536413 | INPP5K | c.1208T>C (p.Ile403Thr) c.980T>C (p.Ile327Thr) c.*799T>C (n.*799T>C) n.320T>C c.932T>C (p.Ile311Thr) c.803T>C (p.Ile268Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1496142A>T | CA397536416 | INPP5K | c.1208T>A (p.Ile403Asn) c.980T>A (p.Ile327Asn) c.*799T>A (n.*799T>A) n.320T>A c.932T>A (p.Ile311Asn) c.803T>A (p.Ile268Asn) | |
17 | g.1496143T>A | CA397536424 | INPP5K | c.1207A>T (p.Ile403Phe) c.979A>T (p.Ile327Phe) c.*798A>T (n.*798A>T) n.319A>T c.931A>T (p.Ile311Phe) c.802A>T (p.Ile268Phe) | |
17 | g.1496143T>C | CA397536422 | INPP5K | c.1207A>G (p.Ile403Val) c.979A>G (p.Ile327Val) c.*798A>G (n.*798A>G) n.319A>G c.931A>G (p.Ile311Val) c.802A>G (p.Ile268Val) | gnomAD v4 |
17 | g.1496143T>G | CA397536419 | INPP5K | c.1207A>C (p.Ile403Leu) c.979A>C (p.Ile327Leu) c.*798A>C (n.*798A>C) n.319A>C c.931A>C (p.Ile311Leu) c.802A>C (p.Ile268Leu) | |
17 | g.1496144A>C | CA397536426 | INPP5K | c.1206T>G (p.Asn402Lys) c.978T>G (p.Asn326Lys) c.*797T>G (n.*797T>G) n.318T>G c.930T>G (p.Asn310Lys) c.801T>G (p.Asn267Lys) | |
17 | g.1496144A>G | CA497278708 | INPP5K | c.1206T>C (p.Asn402=) c.978T>C (p.Asn326=) c.*797T>C (n.*797T>C) n.318T>C c.930T>C (p.Asn310=) c.801T>C (p.Asn267=) | gnomAD v4 |
17 | g.1496144A>T | CA397536429 | INPP5K | c.1206T>A (p.Asn402Lys) c.978T>A (p.Asn326Lys) c.*797T>A (n.*797T>A) n.318T>A c.930T>A (p.Asn310Lys) c.801T>A (p.Asn267Lys) | |
17 | g.1496145T>A | CA397536432 | INPP5K | c.1205A>T (p.Asn402Ile) c.977A>T (p.Asn326Ile) c.*796A>T (n.*796A>T) n.317A>T c.929A>T (p.Asn310Ile) c.800A>T (p.Asn267Ile) | |
17 | g.1496145T>C | CA286807867 | INPP5K | c.1205A>G (p.Asn402Ser) c.977A>G (p.Asn326Ser) c.*796A>G (n.*796A>G) n.317A>G c.929A>G (p.Asn310Ser) c.800A>G (p.Asn267Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496145T>G | CA397536435 | INPP5K | c.1205A>C (p.Asn402Thr) c.977A>C (p.Asn326Thr) c.*796A>C (n.*796A>C) n.317A>C c.929A>C (p.Asn310Thr) c.800A>C (p.Asn267Thr) | |
17 | g.1496145T= | CA2242889334 | INPP5K | c.1205A= (p.Asn402=) c.977A= (p.Asn326=) c.*796A= (n.*796A=) n.317A= c.929A= (p.Asn310=) c.800A= (p.Asn267=) | |
17 | g.1496145_1496146insAA | CA2635219255 | INPP5K | c.1204_1205insTT (p.Asn402IlefsTer25) c.976_977insTT (p.Asn326IlefsTer25) c.*795_*796insTT (n.*795_*796insTT) n.316_317insTT c.928_929insTT (p.Asn310IlefsTer25) c.799_800insTT (p.Asn267IlefsTer25) | gnomAD v4 |
17 | g.1496146T>A | CA397536439 | INPP5K | c.1204A>T (p.Asn402Tyr) c.976A>T (p.Asn326Tyr) c.*795A>T (n.*795A>T) n.316A>T c.928A>T (p.Asn310Tyr) c.799A>T (p.Asn267Tyr) | |
17 | g.1496146T>C | CA397536441 | INPP5K | c.1204A>G (p.Asn402Asp) c.976A>G (p.Asn326Asp) c.*795A>G (n.*795A>G) n.316A>G c.928A>G (p.Asn310Asp) c.799A>G (p.Asn267Asp) | gnomAD v4 |
17 | g.1496146T>G | CA397536442 | INPP5K | c.1204A>C (p.Asn402His) c.976A>C (p.Asn326His) c.*795A>C (n.*795A>C) n.316A>C c.928A>C (p.Asn310His) c.799A>C (p.Asn267His) | |
17 | g.1496146_1496147insA | CA2635219256 | INPP5K | c.1203_1204insT (p.Asn402Ter) c.975_976insT (p.Asn326Ter) c.*794_*795insT (n.*794_*795insT) n.315_316insT c.927_928insT (p.Asn310Ter) c.798_799insT (p.Asn267Ter) | gnomAD v4 |
17 | g.1496147G>A | CA497278712 | INPP5K | c.1203C>T (p.Ser401=) c.975C>T (p.Ser325=) c.*794C>T (n.*794C>T) n.315C>T c.927C>T (p.Ser309=) c.798C>T (p.Ser266=) | |
17 | g.1496147G>C | CA397536444 | INPP5K | c.1203C>G (p.Ser401Arg) c.975C>G (p.Ser325Arg) c.*794C>G (n.*794C>G) n.315C>G c.927C>G (p.Ser309Arg) c.798C>G (p.Ser266Arg) | |
17 | g.1496147G>T | CA397536446 | INPP5K | c.1203C>A (p.Ser401Arg) c.975C>A (p.Ser325Arg) c.*794C>A (n.*794C>A) n.315C>A c.927C>A (p.Ser309Arg) c.798C>A (p.Ser266Arg) | |
17 | g.1496148C>A | CA397536448 | INPP5K | c.1202G>T (p.Ser401Ile) c.974G>T (p.Ser325Ile) c.*793G>T (n.*793G>T) n.314G>T c.926G>T (p.Ser309Ile) c.797G>T (p.Ser266Ile) | |
17 | g.1496148C= | CA2242889335 | INPP5K | c.1202G= (p.Ser401=) c.974G= (p.Ser325=) c.*793G= (n.*793G=) n.314G= c.926G= (p.Ser309=) c.797G= (p.Ser266=) | |
17 | g.1496148C>G | CA397536451 | INPP5K | c.1202G>C (p.Ser401Thr) c.974G>C (p.Ser325Thr) c.*793G>C (n.*793G>C) n.314G>C c.926G>C (p.Ser309Thr) c.797G>C (p.Ser266Thr) | dbSNP |
17 | g.1496148C>T | CA8268323 | INPP5K | c.1202G>A (p.Ser401Asn) c.974G>A (p.Ser325Asn) c.*793G>A (n.*793G>A) n.314G>A c.926G>A (p.Ser309Asn) c.797G>A (p.Ser266Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496149T>A | CA397536462 | INPP5K | c.1201A>T (p.Ser401Cys) c.973A>T (p.Ser325Cys) c.*792A>T (n.*792A>T) n.313A>T c.925A>T (p.Ser309Cys) c.796A>T (p.Ser266Cys) | |
17 | g.1496149T>C | CA397536459 | INPP5K | c.1201A>G (p.Ser401Gly) c.973A>G (p.Ser325Gly) c.*792A>G (n.*792A>G) n.313A>G c.925A>G (p.Ser309Gly) c.796A>G (p.Ser266Gly) | |
17 | g.1496149T>G | CA397536457 | INPP5K | c.1201A>C (p.Ser401Arg) c.973A>C (p.Ser325Arg) c.*792A>C (n.*792A>C) n.313A>C c.925A>C (p.Ser309Arg) c.796A>C (p.Ser266Arg) | |
17 | g.1496150G>A | CA497278714 | INPP5K | c.1200C>T (p.Ile400=) c.972C>T (p.Ile324=) c.*791C>T (n.*791C>T) n.312C>T c.924C>T (p.Ile308=) c.795C>T (p.Ile265=) | dbSNP gnomAD v4 |
17 | g.1496150G>C | CA397536465 | INPP5K | c.1200C>G (p.Ile400Met) c.972C>G (p.Ile324Met) c.*791C>G (n.*791C>G) n.312C>G c.924C>G (p.Ile308Met) c.795C>G (p.Ile265Met) | |
17 | g.1496150G= | CA2242889336 | INPP5K | c.1200C= (p.Ile400=) c.972C= (p.Ile324=) c.*791C= (n.*791C=) n.312C= c.924C= (p.Ile308=) c.795C= (p.Ile265=) | |
17 | g.1496150G>T | CA497278713 | INPP5K | c.1200C>A (p.Ile400=) c.972C>A (p.Ile324=) c.*791C>A (n.*791C>A) n.312C>A c.924C>A (p.Ile308=) c.795C>A (p.Ile265=) | gnomAD v4 |
17 | g.1496151A>C | CA397536470 | INPP5K | c.1199T>G (p.Ile400Ser) c.971T>G (p.Ile324Ser) c.*790T>G (n.*790T>G) n.311T>G c.923T>G (p.Ile308Ser) c.794T>G (p.Ile265Ser) | |
17 | g.1496151A>G | CA397536472 | INPP5K | c.1199T>C (p.Ile400Thr) c.971T>C (p.Ile324Thr) c.*790T>C (n.*790T>C) n.311T>C c.923T>C (p.Ile308Thr) c.794T>C (p.Ile265Thr) | |
17 | g.1496151A>T | CA397536475 | INPP5K | c.1199T>A (p.Ile400Asn) c.971T>A (p.Ile324Asn) c.*790T>A (n.*790T>A) n.311T>A c.923T>A (p.Ile308Asn) c.794T>A (p.Ile265Asn) | |
17 | g.1496152T>A | CA397536477 | INPP5K | c.1198A>T (p.Ile400Phe) c.970A>T (p.Ile324Phe) c.*789A>T (n.*789A>T) n.310A>T c.922A>T (p.Ile308Phe) c.793A>T (p.Ile265Phe) | |
17 | g.1496152T>C | CA397536479 | INPP5K | c.1198A>G (p.Ile400Val) c.970A>G (p.Ile324Val) c.*789A>G (n.*789A>G) n.310A>G c.922A>G (p.Ile308Val) c.793A>G (p.Ile265Val) | |
17 | g.1496152T>G | CA397536482 | INPP5K | c.1198A>C (p.Ile400Leu) c.970A>C (p.Ile324Leu) c.*789A>C (n.*789A>C) n.310A>C c.922A>C (p.Ile308Leu) c.793A>C (p.Ile265Leu) | dbSNP |
17 | g.1496152T= | CA2242889337 | INPP5K | c.1198A= (p.Ile400=) c.970A= (p.Ile324=) c.*789A= (n.*789A=) n.310A= c.922A= (p.Ile308=) c.793A= (p.Ile265=) | |
17 | g.1496153G>A | CA497278715 | INPP5K | c.1197C>T (p.Asp399=) c.969C>T (p.Asp323=) c.*788C>T (n.*788C>T) n.309C>T c.921C>T (p.Asp307=) c.792C>T (p.Asp264=) | |
17 | g.1496153G>C | CA397536485 | INPP5K | c.1197C>G (p.Asp399Glu) c.969C>G (p.Asp323Glu) c.*788C>G (n.*788C>G) n.309C>G c.921C>G (p.Asp307Glu) c.792C>G (p.Asp264Glu) | |
17 | g.1496153G>T | CA397536488 | INPP5K | c.1197C>A (p.Asp399Glu) c.969C>A (p.Asp323Glu) c.*788C>A (n.*788C>A) n.309C>A c.921C>A (p.Asp307Glu) c.792C>A (p.Asp264Glu) | |
17 | g.1496154T>A | CA397536492 | INPP5K | c.1196A>T (p.Asp399Val) c.968A>T (p.Asp323Val) c.*787A>T (n.*787A>T) n.308A>T c.920A>T (p.Asp307Val) c.791A>T (p.Asp264Val) | |
17 | g.1496154T>C | CA397536494 | INPP5K | c.1196A>G (p.Asp399Gly) c.968A>G (p.Asp323Gly) c.*787A>G (n.*787A>G) n.308A>G c.920A>G (p.Asp307Gly) c.791A>G (p.Asp264Gly) | |
17 | g.1496154T>G | CA397536496 | INPP5K | c.1196A>C (p.Asp399Ala) c.968A>C (p.Asp323Ala) c.*787A>C (n.*787A>C) n.308A>C c.920A>C (p.Asp307Ala) c.791A>C (p.Asp264Ala) | |
17 | g.1496155C>A | CA397536503 | INPP5K | c.1195G>T (p.Asp399Tyr) c.967G>T (p.Asp323Tyr) c.*786G>T (n.*786G>T) n.307G>T c.463G>T c.919G>T (p.Asp307Tyr) c.790G>T (p.Asp264Tyr) | |
17 | g.1496155C= | CA2242889338 | INPP5K | c.1195G= (p.Asp399=) c.967G= (p.Asp323=) c.*786G= (n.*786G=) n.307G= c.463G= c.919G= (p.Asp307=) c.790G= (p.Asp264=) | |
17 | g.1496155C>G | CA397536500 | INPP5K | c.1195G>C (p.Asp399His) c.967G>C (p.Asp323His) c.*786G>C (n.*786G>C) n.307G>C c.463G>C c.919G>C (p.Asp307His) c.790G>C (p.Asp264His) | |
17 | g.1496155C>T | CA286807869 | INPP5K | c.1195G>A (p.Asp399Asn) c.967G>A (p.Asp323Asn) c.*786G>A (n.*786G>A) n.307G>A c.463G>A c.919G>A (p.Asp307Asn) c.790G>A (p.Asp264Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496156G>A | CA8268324 | INPP5K | c.1194C>T (p.Ile398=) c.966C>T (p.Ile322=) c.*785C>T (n.*785C>T) n.306C>T c.462C>T (p.Ile154=) c.918C>T (p.Ile306=) c.789C>T (p.Ile263=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1496156G>C | CA397536505 | INPP5K | c.1194C>G (p.Ile398Met) c.966C>G (p.Ile322Met) c.*785C>G (n.*785C>G) n.306C>G c.462C>G (p.Ile154Met) c.918C>G (p.Ile306Met) c.789C>G (p.Ile263Met) | gnomAD v4 |
17 | g.1496156G= | CA2242889339 | INPP5K | c.1194C= (p.Ile398=) c.966C= (p.Ile322=) c.*785C= (n.*785C=) n.306C= c.462C= (p.Ile154=) c.918C= (p.Ile306=) c.789C= (p.Ile263=) | |
17 | g.1496156G>T | CA497278716 | INPP5K | c.1194C>A (p.Ile398=) c.966C>A (p.Ile322=) c.*785C>A (n.*785C>A) n.306C>A c.462C>A (p.Ile154=) c.918C>A (p.Ile306=) c.789C>A (p.Ile263=) | gnomAD v4 |
17 | g.1496157A>C | CA397536506 | INPP5K | c.1193T>G (p.Ile398Ser) c.965T>G (p.Ile322Ser) c.*784T>G (n.*784T>G) n.305T>G c.461T>G (p.Ile154Ser) c.917T>G (p.Ile306Ser) c.788T>G (p.Ile263Ser) | |
17 | g.1496157A>G | CA397536507 | INPP5K | c.1193T>C (p.Ile398Thr) c.965T>C (p.Ile322Thr) c.*784T>C (n.*784T>C) n.305T>C c.461T>C (p.Ile154Thr) c.917T>C (p.Ile306Thr) c.788T>C (p.Ile263Thr) | |
17 | g.1496157A>T | CA397536508 | INPP5K | c.1193T>A (p.Ile398Asn) c.965T>A (p.Ile322Asn) c.*784T>A (n.*784T>A) n.305T>A c.461T>A (p.Ile154Asn) c.917T>A (p.Ile306Asn) c.788T>A (p.Ile263Asn) | |
17 | g.1496158T>A | CA397536510 | INPP5K | c.1192A>T (p.Ile398Phe) c.964A>T (p.Ile322Phe) c.*783A>T (n.*783A>T) n.304A>T c.460A>T (p.Ile154Phe) c.916A>T (p.Ile306Phe) c.787A>T (p.Ile263Phe) | |
17 | g.1496158T>C | CA397536511 | INPP5K | c.1192A>G (p.Ile398Val) c.964A>G (p.Ile322Val) c.*783A>G (n.*783A>G) n.304A>G c.460A>G (p.Ile154Val) c.916A>G (p.Ile306Val) c.787A>G (p.Ile263Val) | gnomAD v4 |
17 | g.1496158T>G | CA397536513 | INPP5K | c.1192A>C (p.Ile398Leu) c.964A>C (p.Ile322Leu) c.*783A>C (n.*783A>C) n.304A>C c.460A>C (p.Ile154Leu) c.916A>C (p.Ile306Leu) c.787A>C (p.Ile263Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1496158T= | CA2242889340 | INPP5K | c.1192A= (p.Ile398=) c.964A= (p.Ile322=) c.*783A= (n.*783A=) n.304A= c.460A= (p.Ile154=) c.916A= (p.Ile306=) c.787A= (p.Ile263=) | |
17 | g.1496159G>A | CA497278718 | INPP5K | c.1191C>T (p.Tyr397=) c.963C>T (p.Tyr321=) c.*782C>T (n.*782C>T) n.303C>T c.459C>T (p.Tyr153=) c.915C>T (p.Tyr305=) c.786C>T (p.Tyr262=) | gnomAD v4 |
17 | g.1496159G>C | CA397536515 | INPP5K | c.1191C>G (p.Tyr397Ter) c.963C>G (p.Tyr321Ter) c.*782C>G (n.*782C>G) n.303C>G c.459C>G (p.Tyr153Ter) c.915C>G (p.Tyr305Ter) c.786C>G (p.Tyr262Ter) | |
17 | g.1496159G>T | CA397536517 | INPP5K | c.1191C>A (p.Tyr397Ter) c.963C>A (p.Tyr321Ter) c.*782C>A (n.*782C>A) n.303C>A c.459C>A (p.Tyr153Ter) c.915C>A (p.Tyr305Ter) c.786C>A (p.Tyr262Ter) | |
17 | g.1496160T>A | CA397536520 | INPP5K | c.1190A>T (p.Tyr397Phe) c.962A>T (p.Tyr321Phe) c.*781A>T (n.*781A>T) n.302A>T c.458A>T (p.Tyr153Phe) c.914A>T (p.Tyr305Phe) c.785A>T (p.Tyr262Phe) | |
17 | g.1496160T>C | CA397536523 | INPP5K | c.1190A>G (p.Tyr397Cys) c.962A>G (p.Tyr321Cys) c.*781A>G (n.*781A>G) n.302A>G c.458A>G (p.Tyr153Cys) c.914A>G (p.Tyr305Cys) c.785A>G (p.Tyr262Cys) | |
17 | g.1496160T>G | CA397536526 | INPP5K | c.1190A>C (p.Tyr397Ser) c.962A>C (p.Tyr321Ser) c.*781A>C (n.*781A>C) n.302A>C c.458A>C (p.Tyr153Ser) c.914A>C (p.Tyr305Ser) c.785A>C (p.Tyr262Ser) | |
17 | g.1496161A>C | CA397536535 | INPP5K | c.1189T>G (p.Tyr397Asp) c.961T>G (p.Tyr321Asp) c.*780T>G (n.*780T>G) n.301T>G c.457T>G (p.Tyr153Asp) c.913T>G (p.Tyr305Asp) c.784T>G (p.Tyr262Asp) | |
17 | g.1496161A>G | CA397536531 | INPP5K | c.1189T>C (p.Tyr397His) c.961T>C (p.Tyr321His) c.*780T>C (n.*780T>C) n.301T>C c.457T>C (p.Tyr153His) c.913T>C (p.Tyr305His) c.784T>C (p.Tyr262His) | |
17 | g.1496161A>T | CA397536533 | INPP5K | c.1189T>A (p.Tyr397Asn) c.961T>A (p.Tyr321Asn) c.*780T>A (n.*780T>A) n.301T>A c.457T>A (p.Tyr153Asn) c.913T>A (p.Tyr305Asn) c.784T>A (p.Tyr262Asn) | |
17 | g.1496162A>C | CA497278719 | INPP5K | c.1188T>G (p.Val396=) c.960T>G (p.Val320=) c.*779T>G (n.*779T>G) n.300T>G c.456T>G (p.Val152=) c.912T>G (p.Val304=) c.783T>G (p.Val261=) | |
17 | g.1496162A>G | CA497278720 | INPP5K | c.1188T>C (p.Val396=) c.960T>C (p.Val320=) c.*779T>C (n.*779T>C) n.300T>C c.456T>C (p.Val152=) c.912T>C (p.Val304=) c.783T>C (p.Val261=) | |
17 | g.1496162A>T | CA497278721 | INPP5K | c.1188T>A (p.Val396=) c.960T>A (p.Val320=) c.*779T>A (n.*779T>A) n.300T>A c.456T>A (p.Val152=) c.912T>A (p.Val304=) c.783T>A (p.Val261=) | |
17 | g.1496163A>C | CA397536539 | INPP5K | c.1187T>G (p.Val396Gly) c.959T>G (p.Val320Gly) c.*778T>G (n.*778T>G) n.299T>G c.455T>G (p.Val152Gly) c.911T>G (p.Val304Gly) c.782T>G (p.Val261Gly) | |
17 | g.1496163A>G | CA397536541 | INPP5K | c.1187T>C (p.Val396Ala) c.959T>C (p.Val320Ala) c.*778T>C (n.*778T>C) n.299T>C c.455T>C (p.Val152Ala) c.911T>C (p.Val304Ala) c.782T>C (p.Val261Ala) | |
17 | g.1496163A>T | CA397536542 | INPP5K | c.1187T>A (p.Val396Asp) c.959T>A (p.Val320Asp) c.*778T>A (n.*778T>A) n.299T>A c.455T>A (p.Val152Asp) c.911T>A (p.Val304Asp) c.782T>A (p.Val261Asp) | |
17 | g.1496164C>A | CA397536547 | INPP5K | c.1186G>T (p.Val396Phe) c.958G>T (p.Val320Phe) c.*777G>T (n.*777G>T) n.298G>T c.454G>T (p.Val152Phe) c.910G>T (p.Val304Phe) c.781G>T (p.Val261Phe) | |
17 | g.1496164C>G | CA397536549 | INPP5K | c.1186G>C (p.Val396Leu) c.958G>C (p.Val320Leu) c.*777G>C (n.*777G>C) n.298G>C c.454G>C (p.Val152Leu) c.910G>C (p.Val304Leu) c.781G>C (p.Val261Leu) | dbSNP gnomAD v4 |
17 | g.1496164C>T | CA397536552 | INPP5K | c.1186G>A (p.Val396Ile) c.958G>A (p.Val320Ile) c.*777G>A (n.*777G>A) n.298G>A c.454G>A (p.Val152Ile) c.910G>A (p.Val304Ile) c.781G>A (p.Val261Ile) | gnomAD v4 |
17 | g.1496165C>A | CA397536557 | INPP5K | c.1186-1G>T (n.1186-1G>T) c.958-1G>T (n.958-1G>T) c.*777-1G>T (n.*777-1G>T) n.297G>T c.454-1G>T (n.454-1G>T) c.910-1G>T (n.910-1G>T) c.781-1G>T (n.781-1G>T) | |
17 | g.1496165C= | CA2242889341 | INPP5K | c.1186-1G= (n.1186-1G=) c.958-1G= (n.958-1G=) c.*777-1G= (n.*777-1G=) n.297G= c.454-1G= (n.454-1G=) c.910-1G= (n.910-1G=) c.781-1G= (n.781-1G=) | |
17 | g.1496165C>G | CA397536559 | INPP5K | c.1186-1G>C (n.1186-1G>C) c.958-1G>C (n.958-1G>C) c.*777-1G>C (n.*777-1G>C) n.297G>C c.454-1G>C (n.454-1G>C) c.910-1G>C (n.910-1G>C) c.781-1G>C (n.781-1G>C) | |
17 | g.1496165C>T | CA397536561 | INPP5K | c.1186-1G>A (n.1186-1G>A) c.958-1G>A (n.958-1G>A) c.*777-1G>A (n.*777-1G>A) n.297G>A c.454-1G>A (n.454-1G>A) c.910-1G>A (n.910-1G>A) c.781-1G>A (n.781-1G>A) | dbSNP |
17 | g.1496166T>A | CA397536564 | INPP5K | c.1186-2A>T (n.1186-2A>T) c.958-2A>T (n.958-2A>T) c.*777-2A>T (n.*777-2A>T) n.296A>T c.454-2A>T (n.454-2A>T) c.910-2A>T (n.910-2A>T) c.781-2A>T (n.781-2A>T) | |
17 | g.1496166T>C | CA397536566 | INPP5K | c.1186-2A>G (n.1186-2A>G) c.958-2A>G (n.958-2A>G) c.*777-2A>G (n.*777-2A>G) n.296A>G c.454-2A>G (n.454-2A>G) c.910-2A>G (n.910-2A>G) c.781-2A>G (n.781-2A>G) | dbSNP |
17 | g.1496166T>G | CA397536568 | INPP5K | c.1186-2A>C (n.1186-2A>C) c.958-2A>C (n.958-2A>C) c.*777-2A>C (n.*777-2A>C) n.296A>C c.454-2A>C (n.454-2A>C) c.910-2A>C (n.910-2A>C) c.781-2A>C (n.781-2A>C) | |
17 | g.1496166T= | CA2242889342 | INPP5K | c.1186-2A= (n.1186-2A=) c.958-2A= (n.958-2A=) c.*777-2A= (n.*777-2A=) n.296A= c.454-2A= (n.454-2A=) c.910-2A= (n.910-2A=) c.781-2A= (n.781-2A=) | |
17 | g.1496167G>A | CA286807891 | INPP5K | c.1186-3C>T (n.1186-3C>T) c.958-3C>T (n.958-3C>T) c.*777-3C>T (n.*777-3C>T) n.295C>T c.454-3C>T (n.454-3C>T) c.910-3C>T (n.910-3C>T) c.781-3C>T (n.781-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1496167G= | CA2242889343 | INPP5K | c.1186-3C= (n.1186-3C=) c.958-3C= (n.958-3C=) c.*777-3C= (n.*777-3C=) n.295C= c.454-3C= (n.454-3C=) c.910-3C= (n.910-3C=) c.781-3C= (n.781-3C=) | |
17 | g.1496168G= | CA2242889344 | INPP5K | c.1186-4C= (n.1186-4C=) c.958-4C= (n.958-4C=) c.*777-4C= (n.*777-4C=) n.294C= c.454-4C= (n.454-4C=) c.910-4C= (n.910-4C=) c.781-4C= (n.781-4C=) | |
17 | g.1496168G>T | CA624458174 | INPP5K | c.1186-4C>A (n.1186-4C>A) c.958-4C>A (n.958-4C>A) c.*777-4C>A (n.*777-4C>A) n.294C>A c.454-4C>A (n.454-4C>A) c.910-4C>A (n.910-4C>A) c.781-4C>A (n.781-4C>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1496170G>A | CA2635219257 | INPP5K | c.1186-6C>T (n.1186-6C>T) c.958-6C>T (n.958-6C>T) c.*777-6C>T (n.*777-6C>T) n.292C>T c.454-6C>T (n.454-6C>T) c.910-6C>T (n.910-6C>T) c.781-6C>T (n.781-6C>T) | gnomAD v4 |
17 | g.1496170G>T | CA2635219258 | INPP5K | c.1186-6C>A (n.1186-6C>A) c.958-6C>A (n.958-6C>A) c.*777-6C>A (n.*777-6C>A) n.292C>A c.454-6C>A (n.454-6C>A) c.910-6C>A (n.910-6C>A) c.781-6C>A (n.781-6C>A) | gnomAD v4 |
17 | g.1496171G>A | CA645579639 | INPP5K | c.1186-7C>T (n.1186-7C>T) c.958-7C>T (n.958-7C>T) c.*777-7C>T (n.*777-7C>T) n.291C>T c.454-7C>T (n.454-7C>T) c.910-7C>T (n.910-7C>T) c.781-7C>T (n.781-7C>T) | gnomAD v4 COSMIC COSMIC |
17 | g.1496171G>T | CA2576110913 | INPP5K | c.1186-7C>A (n.1186-7C>A) c.958-7C>A (n.958-7C>A) c.*777-7C>A (n.*777-7C>A) n.291C>A c.454-7C>A (n.454-7C>A) c.910-7C>A (n.910-7C>A) c.781-7C>A (n.781-7C>A) | |
17 | g.1496172G>T | CA2635219259 | INPP5K | c.1186-8C>A (n.1186-8C>A) c.958-8C>A (n.958-8C>A) c.*777-8C>A (n.*777-8C>A) n.290C>A c.454-8C>A (n.454-8C>A) c.910-8C>A (n.910-8C>A) c.781-8C>A (n.781-8C>A) | gnomAD v4 |
17 | g.1496173G>A | CA2808185641 | INPP5K | c.1186-9C>T (n.1186-9C>T) c.958-9C>T (n.958-9C>T) c.*777-9C>T (n.*777-9C>T) n.289C>T c.454-9C>T (n.454-9C>T) c.910-9C>T (n.910-9C>T) c.781-9C>T (n.781-9C>T) | |
17 | g.1496173G>C | CA286807897 | INPP5K | c.1186-9C>G (n.1186-9C>G) c.958-9C>G (n.958-9C>G) c.*777-9C>G (n.*777-9C>G) n.289C>G c.454-9C>G (n.454-9C>G) c.910-9C>G (n.910-9C>G) c.781-9C>G (n.781-9C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496173G= | CA2242889345 | INPP5K | c.1186-9C= (n.1186-9C=) c.958-9C= (n.958-9C=) c.*777-9C= (n.*777-9C=) n.289C= c.454-9C= (n.454-9C=) c.910-9C= (n.910-9C=) c.781-9C= (n.781-9C=) | |
17 | g.1496173G>T | CA2635219260 | INPP5K | c.1186-9C>A (n.1186-9C>A) c.958-9C>A (n.958-9C>A) c.*777-9C>A (n.*777-9C>A) n.289C>A c.454-9C>A (n.454-9C>A) c.910-9C>A (n.910-9C>A) c.781-9C>A (n.781-9C>A) | gnomAD v4 |
17 | g.1496174G>C | CA2741511621 | INPP5K | c.1186-10C>G (n.1186-10C>G) c.958-10C>G (n.958-10C>G) c.*777-10C>G (n.*777-10C>G) n.288C>G c.454-10C>G (n.454-10C>G) c.910-10C>G (n.910-10C>G) c.781-10C>G (n.781-10C>G) | |
17 | g.1496174G>T | CA2635219261 | INPP5K | c.1186-10C>A (n.1186-10C>A) c.958-10C>A (n.958-10C>A) c.*777-10C>A (n.*777-10C>A) n.288C>A c.454-10C>A (n.454-10C>A) c.910-10C>A (n.910-10C>A) c.781-10C>A (n.781-10C>A) | gnomAD v4 |
17 | g.1496175A= | CA2242889346 | INPP5K | c.1186-11T= (n.1186-11T=) c.958-11T= (n.958-11T=) c.*777-11T= (n.*777-11T=) n.287T= c.454-11T= (n.454-11T=) c.910-11T= (n.910-11T=) c.781-11T= (n.781-11T=) | |
17 | g.1496175A>G | CA2576110914 | INPP5K | c.1186-11T>C (n.1186-11T>C) c.958-11T>C (n.958-11T>C) c.*777-11T>C (n.*777-11T>C) n.287T>C c.454-11T>C (n.454-11T>C) c.910-11T>C (n.910-11T>C) c.781-11T>C (n.781-11T>C) | gnomAD v4 |
17 | g.1496175A>T | CA8268325 | INPP5K | c.1186-11T>A (n.1186-11T>A) c.958-11T>A (n.958-11T>A) c.*777-11T>A (n.*777-11T>A) n.287T>A c.454-11T>A (n.454-11T>A) c.910-11T>A (n.910-11T>A) c.781-11T>A (n.781-11T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1496176T>C | CA2635219262 | INPP5K | c.1186-12A>G (n.1186-12A>G) c.958-12A>G (n.958-12A>G) c.*777-12A>G (n.*777-12A>G) n.286A>G c.454-12A>G (n.454-12A>G) c.910-12A>G (n.910-12A>G) c.781-12A>G (n.781-12A>G) | gnomAD v4 |
17 | g.1496176T>G | CA8268326 | INPP5K | c.1186-12A>C (n.1186-12A>C) c.958-12A>C (n.958-12A>C) c.*777-12A>C (n.*777-12A>C) n.286A>C c.454-12A>C (n.454-12A>C) c.910-12A>C (n.910-12A>C) c.781-12A>C (n.781-12A>C) | dbSNP ExAC gnomAD v4 |
17 | g.1496176T= | CA2242889347 | INPP5K | c.1186-12A= (n.1186-12A=) c.958-12A= (n.958-12A=) c.*777-12A= (n.*777-12A=) n.286A= c.454-12A= (n.454-12A=) c.910-12A= (n.910-12A=) c.781-12A= (n.781-12A=) | |
17 | g.1496177G>T | CA2635219263 | INPP5K | c.1186-13C>A (n.1186-13C>A) c.958-13C>A (n.958-13C>A) c.*777-13C>A (n.*777-13C>A) n.285C>A c.454-13C>A (n.454-13C>A) c.910-13C>A (n.910-13C>A) c.781-13C>A (n.781-13C>A) | gnomAD v4 |
17 | g.1496178G>A | CA2635219264 | INPP5K | c.1186-14C>T (n.1186-14C>T) c.958-14C>T (n.958-14C>T) c.*777-14C>T (n.*777-14C>T) n.284C>T c.454-14C>T (n.454-14C>T) c.910-14C>T (n.910-14C>T) c.781-14C>T (n.781-14C>T) | gnomAD v4 |
17 | g.1496178G= | CA2242889348 | INPP5K | c.1186-14C= (n.1186-14C=) c.958-14C= (n.958-14C=) c.*777-14C= (n.*777-14C=) n.284C= c.454-14C= (n.454-14C=) c.910-14C= (n.910-14C=) c.781-14C= (n.781-14C=) | |
17 | g.1496178G>T | CA8268327 | INPP5K | c.1186-14C>A (n.1186-14C>A) c.958-14C>A (n.958-14C>A) c.*777-14C>A (n.*777-14C>A) n.284C>A c.454-14C>A (n.454-14C>A) c.910-14C>A (n.910-14C>A) c.781-14C>A (n.781-14C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1496182G>A | CA2635219265 | INPP5K | c.1186-18C>T (n.1186-18C>T) c.958-18C>T (n.958-18C>T) c.*777-18C>T (n.*777-18C>T) n.280C>T c.454-18C>T (n.454-18C>T) c.910-18C>T (n.910-18C>T) c.781-18C>T (n.781-18C>T) | gnomAD v4 |
17 | g.1496182G>T | CA2635219266 | INPP5K | c.1186-18C>A (n.1186-18C>A) c.958-18C>A (n.958-18C>A) c.*777-18C>A (n.*777-18C>A) n.280C>A c.454-18C>A (n.454-18C>A) c.910-18C>A (n.910-18C>A) c.781-18C>A (n.781-18C>A) | gnomAD v4 |
17 | g.1496183G>T | CA2635219267 | INPP5K | c.1186-19C>A (n.1186-19C>A) c.958-19C>A (n.958-19C>A) c.*777-19C>A (n.*777-19C>A) n.279C>A c.454-19C>A (n.454-19C>A) c.910-19C>A (n.910-19C>A) c.781-19C>A (n.781-19C>A) | gnomAD v4 |
17 | g.1496188G>A | CA2635219268 | INPP5K | c.1186-24C>T (n.1186-24C>T) c.958-24C>T (n.958-24C>T) c.*777-24C>T (n.*777-24C>T) n.274C>T c.454-24C>T (n.454-24C>T) c.910-24C>T (n.910-24C>T) c.781-24C>T (n.781-24C>T) | gnomAD v4 |
17 | g.1496189G>A | CA8268328 | INPP5K | c.1186-25C>T (n.1186-25C>T) c.958-25C>T (n.958-25C>T) c.*777-25C>T (n.*777-25C>T) n.273C>T c.454-25C>T (n.454-25C>T) c.910-25C>T (n.910-25C>T) c.781-25C>T (n.781-25C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1496189G>C | CA2808185643 | INPP5K | c.1186-25C>G (n.1186-25C>G) c.958-25C>G (n.958-25C>G) c.*777-25C>G (n.*777-25C>G) n.273C>G c.454-25C>G (n.454-25C>G) c.910-25C>G (n.910-25C>G) c.781-25C>G (n.781-25C>G) | |
17 | g.1496189G= | CA2242889349 | INPP5K | c.1186-25C= (n.1186-25C=) c.958-25C= (n.958-25C=) c.*777-25C= (n.*777-25C=) n.273C= c.454-25C= (n.454-25C=) c.910-25C= (n.910-25C=) c.781-25C= (n.781-25C=) | |
17 | g.1496189G>T | CA2635219269 | INPP5K | c.1186-25C>A (n.1186-25C>A) c.958-25C>A (n.958-25C>A) c.*777-25C>A (n.*777-25C>A) n.273C>A c.454-25C>A (n.454-25C>A) c.910-25C>A (n.910-25C>A) c.781-25C>A (n.781-25C>A) | gnomAD v4 |
17 | g.1496190G>T | CA2635219270 | INPP5K | c.1186-26C>A (n.1186-26C>A) c.958-26C>A (n.958-26C>A) c.*777-26C>A (n.*777-26C>A) n.272C>A c.454-26C>A (n.454-26C>A) c.910-26C>A (n.910-26C>A) c.781-26C>A (n.781-26C>A) | gnomAD v4 |
17 | g.1496192C>A | CA2501232084 | INPP5K | c.1186-28G>T (n.1186-28G>T) c.958-28G>T (n.958-28G>T) c.*777-28G>T (n.*777-28G>T) n.270G>T c.454-28G>T (n.454-28G>T) c.910-28G>T (n.910-28G>T) c.781-28G>T (n.781-28G>T) | |
17 | g.1496192C= | CA2242889350 | INPP5K | c.1186-28G= (n.1186-28G=) c.958-28G= (n.958-28G=) c.*777-28G= (n.*777-28G=) n.270G= c.454-28G= (n.454-28G=) c.910-28G= (n.910-28G=) c.781-28G= (n.781-28G=) | |
17 | g.1496192C>T | CA726340733 | INPP5K | c.1186-28G>A (n.1186-28G>A) c.958-28G>A (n.958-28G>A) c.*777-28G>A (n.*777-28G>A) n.270G>A c.454-28G>A (n.454-28G>A) c.910-28G>A (n.910-28G>A) c.781-28G>A (n.781-28G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1496194G>A | CA286807904 | INPP5K | c.1186-30C>T (n.1186-30C>T) c.958-30C>T (n.958-30C>T) c.*777-30C>T (n.*777-30C>T) n.268C>T c.454-30C>T (n.454-30C>T) c.910-30C>T (n.910-30C>T) c.781-30C>T (n.781-30C>T) | dbSNP gnomAD v4 |
17 | g.1496194G= | CA2242889351 | INPP5K | c.1186-30C= (n.1186-30C=) c.958-30C= (n.958-30C=) c.*777-30C= (n.*777-30C=) n.268C= c.454-30C= (n.454-30C=) c.910-30C= (n.910-30C=) c.781-30C= (n.781-30C=) | |
17 | g.1496194G>T | CA2635219271 | INPP5K | c.1186-30C>A (n.1186-30C>A) c.958-30C>A (n.958-30C>A) c.*777-30C>A (n.*777-30C>A) n.268C>A c.454-30C>A (n.454-30C>A) c.910-30C>A (n.910-30C>A) c.781-30C>A (n.781-30C>A) | gnomAD v4 |
17 | g.1496195C= | CA2242889352 | INPP5K | c.1186-31G= (n.1186-31G=) c.958-31G= (n.958-31G=) c.*777-31G= (n.*777-31G=) n.267G= c.454-31G= (n.454-31G=) c.910-31G= (n.910-31G=) c.781-31G= (n.781-31G=) | |
17 | g.1496195C>T | CA726340737 | INPP5K | c.1186-31G>A (n.1186-31G>A) c.958-31G>A (n.958-31G>A) c.*777-31G>A (n.*777-31G>A) n.267G>A c.454-31G>A (n.454-31G>A) c.910-31G>A (n.910-31G>A) c.781-31G>A (n.781-31G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1496196T>C | CA286807916 | INPP5K | c.1186-32A>G (n.1186-32A>G) c.958-32A>G (n.958-32A>G) c.*777-32A>G (n.*777-32A>G) n.266A>G c.454-32A>G (n.454-32A>G) c.910-32A>G (n.910-32A>G) c.781-32A>G (n.781-32A>G) | dbSNP gnomAD v4 |
17 | g.1496196T>G | CA2576110915 | INPP5K | c.1186-32A>C (n.1186-32A>C) c.958-32A>C (n.958-32A>C) c.*777-32A>C (n.*777-32A>C) n.266A>C c.454-32A>C (n.454-32A>C) c.910-32A>C (n.910-32A>C) c.781-32A>C (n.781-32A>C) | gnomAD v4 |
17 | g.1496196T= | CA2242889353 | INPP5K | c.1186-32A= (n.1186-32A=) c.958-32A= (n.958-32A=) c.*777-32A= (n.*777-32A=) n.266A= c.454-32A= (n.454-32A=) c.910-32A= (n.910-32A=) c.781-32A= (n.781-32A=) | |
17 | g.1496197C>A | CA980651311 | INPP5K | c.1186-33G>T (n.1186-33G>T) c.958-33G>T (n.958-33G>T) c.*777-33G>T (n.*777-33G>T) n.265G>T c.454-33G>T (n.454-33G>T) c.910-33G>T (n.910-33G>T) c.781-33G>T (n.781-33G>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1496197C= | CA2242889354 | INPP5K | c.1186-33G= (n.1186-33G=) c.958-33G= (n.958-33G=) c.*777-33G= (n.*777-33G=) n.265G= c.454-33G= (n.454-33G=) c.910-33G= (n.910-33G=) c.781-33G= (n.781-33G=) | |
17 | g.1496198C>G | CA2635219272 | INPP5K | c.1186-34G>C (n.1186-34G>C) c.958-34G>C (n.958-34G>C) c.*777-34G>C (n.*777-34G>C) n.264G>C c.454-34G>C (n.454-34G>C) c.910-34G>C (n.910-34G>C) c.781-34G>C (n.781-34G>C) | gnomAD v4 |
17 | g.1496200G>A | CA2576110916 | INPP5K | c.1186-36C>T (n.1186-36C>T) c.958-36C>T (n.958-36C>T) c.*777-36C>T (n.*777-36C>T) n.262C>T c.454-36C>T (n.454-36C>T) c.910-36C>T (n.910-36C>T) c.781-36C>T (n.781-36C>T) | |
17 | g.1496200G>C | CA726340741 | INPP5K | c.1186-36C>G (n.1186-36C>G) c.958-36C>G (n.958-36C>G) c.*777-36C>G (n.*777-36C>G) n.262C>G c.454-36C>G (n.454-36C>G) c.910-36C>G (n.910-36C>G) c.781-36C>G (n.781-36C>G) | dbSNP |
17 | g.1496200G= | CA2242889355 | INPP5K | c.1186-36C= (n.1186-36C=) c.958-36C= (n.958-36C=) c.*777-36C= (n.*777-36C=) n.262C= c.454-36C= (n.454-36C=) c.910-36C= (n.910-36C=) c.781-36C= (n.781-36C=) |