AKT1 AKT serine/threonine kinase 1

Canonical transcript: NM_005163

523 unique variant annotations were identified in 1047 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
14-105235824-G-C c.*854C>G - 3-UTRSNV 14/14 - 1
14-105236287-A-C c.*391T>G - 3-UTRSNV 14/14 - 1
14-105236377-G-A c.*301C>T - 3-UTRSNV 14/14 - 1
14-105236557-G-A c.*121C>T - 3-UTRSNV 14/14 - 1
14-105236557-G-C c.*121C>G - 3-UTRSNV 14/14 - 1
14-105236568-G-A c.*110C>T - 3-UTRSNV 14/14 - 1
14-105236685-G-A c.1436C>T p.Thr479Met Missense 14/14 - 1
14-105236686-T-C c.1435A>G p.Thr479Ala Missense 14/14 - 4
14-105236689-C-T c.1432G>A p.Gly478Ser Missense 14/14 - 1
14-105236691-CT-GA c.1429_1430delinsTC p.Ser477Ser Missense 14/14 - 2
14-105236691-CT-GC c.1429_1430delinsGC p.Ser477Ala Missense 14/14 - 2
14-105236700-T-A c.1421A>T p.Tyr474Phe Missense 14/14 - 1
14-105236700-TA-GC c.1420_1421delinsGC p.Tyr474Ala Missense 14/14 - 1
14-105236702-G-A c.1419C>T p.Ser473Ser Synonymous 14/14 - 1
14-105236702-G-C c.1419C>G p.Ser473Ser Synonymous 14/14 - 1
14-105236702-GGA-GAG c.1417_1418delinsCT p.Ser473Leu Missense 14/14 - 3
14-105236702-G-T c.1419C>A p.Ser473Ser Synonymous 14/14 - 1
14-105236703-GA-GG c.1417delinsC p.Ser473Pro Missense 14/14 - 1
14-105236704-A-C c.1417T>G p.Ser473Ala Missense 14/14 - 59
14-105236704-A-G c.1417T>C p.Ser473Pro Missense 14/14 - 10
14-105236721-G-A c.1400C>T p.Pro467Leu Missense 14/14 - 2
14-105236722-G-C c.1399C>G p.Pro467Ala Missense 14/14 - 1
14-105236724-CT-CA c.1396delinsT p.Arg466Trp Missense 14/14 - 1
14-105236724-CT-GC c.1396_1397delinsGC p.Arg466Ala Missense 14/14 - 2
14-105236725-T-A c.1396A>T p.Arg466Trp Missense 14/14 - 1
14-105236727-CG-GC c.1393_1394delinsGC p.Arg465Ala Missense 14/14 - 1
14-105236728-G-A c.1393C>T p.Arg465Cys Missense 14/14 - 3
14-105236728-G-T c.1393C>A p.Arg465Ser Missense 14/14 - 1
14-105236740-C-A c.1381G>T p.Val461Leu Missense 14/14 - 6
14-105236741-A-C c.1380T>G p.Cys460Trp Missense 14/14 - 1
14-105236742-C-G c.1379G>C p.Cys460Ser Missense 14/14 - 4
14-105236743-A-T c.1378T>A p.Cys460Ser Missense 14/14 - 4
14-105236746-C-T c.1375G>A p.Glu459Lys Missense 14/14 - 1
14-105236747-C-A c.1374G>T p.Met458Ile Missense 14/14 - 1
14-105236747-C-G c.1374G>C p.Met458Ile Missense 14/14 - 1
14-105236747-C-T c.1374G>A p.Met458Ile Missense 14/14 - 1
14-105237095-T-A c.1350A>T p.Thr450Thr Synonymous 13/14 - 1
14-105237095-T-C c.1350A>G p.Thr450Thr Synonymous 13/14 - 1
14-105237095-T-G c.1350A>C p.Thr450Thr Synonymous 13/14 - 1
14-105237095-TGT-GAC c.1348_1350delinsGTC p.Thr450Val Missense 13/14 - 1
14-105237096-GT-GA c.1348delinsT p.Thr450Ser Missense 13/14 - 1
14-105237097-T-C c.1348A>G p.Thr450Ala Missense 13/14 - 5
14-105237117-G-A c.1328C>T p.Thr443Met Missense 13/14 - 1
14-105237120-AA-GC c.1324_1325delinsGC p.Phe442Ala Missense 13/14 - 32
14-105237132-A-G c.1313T>C p.Phe438Ser Missense 13/14 - 1
14-105237135-TA-GC c.1309_1310delinsGC p.Tyr437Ala Missense 13/14 - 1
14-105237142-T-C c.1303A>G p.Thr435Ala Missense 13/14 - 1
14-105237142-T-G c.1303A>C p.Thr435Pro Missense 13/14 - 1
14-105237154-A-C c.1291T>G p.Ser431Ala Missense 13/14 - 2
14-105237157-T-C c.1288A>G p.Thr430Ala Missense 13/14 - 1
14-105237167-CT-GC c.1277_1278delinsGC p.Lys426Ser Missense 13/14 - 1
14-105237168-T-C c.1277A>G p.Lys426Arg Missense 13/14 - 2
14-105237168-TT-GC c.1276_1277delinsGC p.Lys426Ala Missense 13/14 - 2
14-105237175-G-C c.1270C>G p.Pro424Ala Missense 13/14 - 1
14-105237180-CT-GC c.1264_1265delinsGC p.Ser422Ala Missense 13/14 - 3
14-105237401-A-G c.1261-217T>C - IntronicSNV - 12/13 1
14-105237680-G-C c.1261-496C>G - IntronicSNV - 12/13 8
14-105238604-C-T c.1260+98G>A - IntronicSNV - 12/13 1
14-105238636-G-A c.1260+66C>T - IntronicSNV - 12/13 1
14-105238636-G-C c.1260+66C>G - IntronicSNV - 12/13 1
14-105238636-G-T c.1260+66C>A - IntronicSNV - 12/13 1
14-105238702-CT-GC c.1259_1260delinsGC p.Lys420Ser Missense 12/14 - 1
14-105238715-A-G c.1247T>C p.Val416Ala Missense 12/14 - 1
14-105238728-C-T c.1234G>A p.Val412Met Missense 12/14 - 1
14-105238732-AC-AG c.1229delinsC p.Gly410Ala Missense 12/14 - 1
14-105238734-C-T c.1228G>A p.Gly410Ser Missense 12/14 - 1
14-105238736-G-A c.1226C>T p.Ala409Val Missense 12/14 - 1
14-105238745-C-T c.1217G>A p.Arg406His Missense 12/14 - 1
14-105238763-TT-GC c.1198_1199delinsGC p.Lys400Ala Missense 12/14 - 1
14-105238766-G-C c.1196C>G p.Ala399Gly Missense 12/14 - 1
14-105238767-C-T c.1195G>A p.Ala399Thr Missense 12/14 - 2
14-105238778-C-G c.1184G>C p.Gly395Ala Missense 12/14 - 1
14-105239146-C-G c.1172+69G>C - IntronicSNV - 11/13 24
14-105239192-T-C c.1172+23A>G - IntronicSNV - 11/13 61
14-105239215-CT-TA c.1171_1172delinsTA p.Arg391* Nonsense 11/14 - 1
14-105239221-TT-GC c.1165_1166delinsGC p.Lys389Ala Missense 11/14 - 1
14-105239225-G-T c.1162C>A p.Pro388Thr Missense 11/14 - 8
14-105239227-T-G c.1160A>C p.Asp387Ala Missense 11/14 - 2
14-105239230-TT-GC c.1156_1157delinsGC p.Lys386Ala Missense 11/14 - 2
14-105239233-TT-GC c.1153_1154delinsGC p.Lys385Ala Missense 11/14 - 1
14-105239239-AG-TC c.1147_1148delinsGA p.Leu383Glu Missense 11/14 - 1
14-105239242-C-G c.1145G>C p.Gly382Ala Missense 11/14 - 1
14-105239246-A-C c.1141T>G p.Ser381Ala Missense 11/14 - 2
14-105239255-A-G c.1132T>C p.Ser378Pro Missense 11/14 - 1
14-105239264-C-T c.1123G>A p.Glu375Lys Missense 11/14 - 1
14-105239279-G-A c.1108C>T p.Arg370Cys Missense 11/14 - 1
14-105239286-GCG-TGA c.1099_1101delinsTCA p.Arg367Ser Nonsense 11/14 - 1
14-105239287-C-T c.1100G>A p.Arg367His Missense 11/14 - 1
14-105239288-G-A c.1099C>T p.Arg367Cys Missense 11/14 - 1
14-105239293-T-G c.1094A>C p.Glu365Ala Missense 11/14 - 1
14-105239294-C-T c.1093G>A p.Glu365Lys Missense 11/14 - 2
14-105239296-T-G c.1091A>C p.Glu364Ala Missense 11/14 - 1
14-105239297-C-G c.1090G>C p.Glu364Gln Missense 11/14 - 1
14-105239300-T-C c.1087A>G p.Met363Val Missense 11/14 - 1
14-105239302-A-C c.1085T>G p.Leu362Arg Missense 11/14 - 1
14-105239317-A-G c.1070T>C p.Leu357Pro Missense 11/14 - 7
14-105239317-AG-AC c.1069delinsG p.Leu357Val Missense 11/14 - 2
14-105239323-T-C c.1064A>G p.Glu355Gly Missense 11/14 - 2
14-105239338-T-A c.1049A>T p.Tyr350Phe Missense 11/14 - 2
14-105239345-G-A c.1042C>T p.Pro348Ser Missense 11/14 - 1
14-105239349-GCG-TGG c.1037_1038delinsCA p.Arg346Pro Missense 11/14 - 1
14-105239352-A-T c.1035T>A p.Gly345Gly Synonymous 11/14 - 1
14-105239354-C-G c.1033G>C p.Gly345Arg Missense 11/14 - 2
14-105239367-GTA-GAG c.1018_1019delinsCT p.Tyr340Leu Missense 11/14 - 2
14-105239368-T-A c.1019A>T p.Tyr340Phe Missense 11/14 - 2
14-105239369-A-C c.1018T>G p.Tyr340Asp Missense 11/14 - 1
14-105239377-AC-TC c.1010delinsA p.Val337Glu Missense 11/14 - 1
14-105239388-C-T c.999G>A p.Trp333* Nonsense 11/14 - 1
14-105239389-C-T c.998G>A p.Trp333* Nonsense 11/14 - 1
14-105239392-CA-GC c.994_995delinsGC p.Trp332Ala Missense 11/14 - 1
14-105239403-ACG-GAG c.983_984delinsTC p.Arg328Leu Missense 11/14 - 1
14-105239403-ACG-TGG c.983_984delinsCA p.Arg328Pro Missense 11/14 - 1
14-105239404-CG-GC c.982_983delinsGC p.Arg328Ala Missense 11/14 - 1
14-105239410-T-A c.977A>T p.Tyr326Phe Missense 11/14 - 1
14-105239410-TA-GC c.976_977delinsGC p.Tyr326Ala Missense 11/14 - 2
14-105239413-T-G c.974A>C p.Asp325Ala Missense 11/14 - 1
14-105239419-T-G c.968A>C p.Asp323Ala Missense 11/14 - 1
14-105239420-C-A c.967G>T p.Asp323Tyr Missense 11/14 - 1
14-105239420-C-G c.967G>C p.Asp323His Missense 11/14 - 7
14-105239420-C-T c.967G>A p.Asp323Asn Missense 11/14 - 1
14-105239423-C-T c.964G>A p.Glu322Lys Missense 11/14 - 1
14-105239425-AG-GC c.961_962delinsGC p.Leu321Ala Missense 11/14 - 1
14-105239428-A-C c.959T>G p.Val320Gly Missense 11/14 - 1
14-105239589-T-C c.956A>G p.Glu319Gly Missense 10/14 - 9
14-105239591-GGG-TAA c.952_954delinsTTA p.Pro318Leu Nonsense 10/14 - 1
14-105239592-G-A c.953C>T p.Pro318Leu Missense 10/14 - 1
14-105239600-GTA-GAG c.943_944delinsCT p.Tyr315Leu Missense 10/14 - 1
14-105239601-T-A c.944A>T p.Tyr315Phe Missense 10/14 - 2
14-105239606-AGG-TAA c.937_939delinsTTA p.Pro313Leu Nonsense 10/14 - 1
14-105239608-G-C c.937C>G p.Pro313Ala Missense 10/14 - 1
14-105239610-G-A c.935C>T p.Thr312Ile Missense 10/14 - 1
14-105239611-T-C c.934A>G p.Thr312Ala Missense 10/14 - 2
14-105239613-C-T c.932G>A p.Gly311Asp Missense 10/14 - 3
14-105239614-C-G c.931G>C p.Gly311Arg Missense 10/14 - 1
14-105239614-C-T c.931G>A p.Gly311Ser Missense 10/14 - 1
14-105239616-CA-GC c.928_929delinsGC p.Cys310Ala Missense 10/14 - 3
14-105239619-AA-GA c.926delinsC p.Phe309Ser Missense 10/14 - 2
14-105239621-GGT-TAA c.922_924delinsTTA p.Thr308Leu Nonsense 10/14 - 1
14-105239622-GT-GA c.922delinsT p.Thr308Ser Missense 10/14 - 56
14-105239622-GT-GG c.922delinsC p.Thr308Pro Missense 10/14 - 1
14-105239623-T-C c.922A>G p.Thr308Ala Missense 10/14 - 59
14-105239623-T-G c.922A>C p.Thr308Pro Missense 10/14 - 7
14-105239631-GT-GA c.913delinsT p.Thr305Ser Missense 10/14 - 1
14-105239631-GT-TA c.913_914delinsTA p.Thr305Tyr Missense 10/14 - 1
14-105239632-T-C c.913A>G p.Thr305Ala Missense 10/14 - 3
14-105239651-C-A c.894G>T p.Glu298Asp Missense 10/14 - 1
14-105239651-C-G c.894G>C p.Glu298Asp Missense 10/14 - 1
14-105239655-T-A c.890A>T p.Lys297Met Missense 10/14 - 2
14-105239655-T-C c.890A>G p.Lys297Arg Missense 10/14 - 3
14-105239655-TT-GC c.889_890delinsGC p.Lys297Ala Missense 10/14 - 1
14-105239670-T-G c.875A>C p.Asp292Ala Missense 10/14 - 2
14-105239694-T-A c.851A>T p.Lys284Met Missense 10/14 - 1
14-105239700-AG-GC c.844_845delinsGC p.Leu282Ala Missense 10/14 - 1
14-105239715-AG-GC c.829_830delinsGC p.Leu277Ala Missense 10/14 - 1
14-105239793-T-C c.827A>G p.Lys276Arg Missense 9/14 - 4
14-105239799-T-G c.821A>C p.Asp274Ala Missense 9/14 - 2
14-105239800-C-G c.820G>C p.Asp274His Missense 9/14 - 1
14-105239801-CC-AT c.818_819delinsAT p.Arg273His Missense 9/14 - 7
14-105239801-CCG-AAC c.817_819delinsGTT p.Arg273Val Missense 9/14 - 2
14-105239801-CCG-TGT c.817_819delinsACA p.Arg273Thr Missense 9/14 - 2
14-105239802-C-A c.818G>T p.Arg273Leu Missense 9/14 - 1
14-105239802-CG-GC c.817_818delinsGC p.Arg273Ala Missense 9/14 - 4
14-105239808-A-G c.812T>C p.Val271Ala Missense 9/14 - 1
14-105239811-A-G c.809T>C p.Val270Ala Missense 9/14 - 1
14-105239816-CTT-TGT c.803_804delinsCA p.Lys268Thr Missense 9/14 - 1
14-105239817-TT-GC c.802_803delinsGC p.Lys268Ala Missense 9/14 - 1
14-105239820-T-C c.800A>G p.Glu267Gly Missense 9/14 - 1
14-105239821-C-T c.799G>A p.Glu267Lys Missense 9/14 - 1
14-105239823-G-A c.797C>T p.Ser266Leu Missense 9/14 - 1
14-105239826-T-A c.794A>T p.His265Leu Missense 9/14 - 1
14-105239834-G-C c.786C>G p.Asp262Glu Missense 9/14 - 1
14-105239834-G-T c.786C>A p.Asp262Glu Missense 9/14 - 1
14-105239836-C-T c.784G>A p.Asp262Asn Missense 9/14 - 1
14-105239838-AG-GC c.781_782delinsGC p.Leu261Ala Missense 9/14 - 2
14-105239845-A-C c.775T>G p.Ser259Ala Missense 9/14 - 3
14-105239857-C-T c.763G>A p.Ala255Thr Missense 9/14 - 2
14-105239862-T-A c.758A>T p.Tyr253Phe Missense 9/14 - 8
14-105239863-A-G c.757T>C p.Tyr253His Missense 9/14 - 9
14-105239873-C-A c.747G>T p.Arg249Arg Synonymous 9/14 - 1
14-105239873-CC-AT c.746_747delinsAT p.Arg249His Missense 9/14 - 1
14-105239874-CG-GC c.745_746delinsGC p.Arg249Ala Missense 9/14 - 1
14-105239894-C-A c.726G>T p.Glu242Asp Missense 9/14 - 1
14-105239894-C-G c.726G>C p.Glu242Asp Missense 9/14 - 1
14-105239894-C-T c.726G>A p.Glu242Glu Synonymous 9/14 - 54
14-105239900-GGA-GAG c.718_719delinsCT p.Ser240Leu Missense 9/14 - 1
14-105239902-A-C c.718T>G p.Ser240Ala Missense 9/14 - 3
14-105239902-A-G c.718T>C p.Ser240Pro Missense 9/14 - 1
14-105239904-A-G c.716T>C p.Leu239Pro Missense 9/14 - 1
14-105239916-AG-GC c.703_704delinsGC p.Leu235Ala Missense 9/14 - 2
14-105239940-C-T c.703-23G>A - IntronicSNV - 8/13 1
14-105240216-G-A c.702+33C>T - IntronicSNV - 8/13 1
14-105240216-G-T c.702+33C>A - IntronicSNV - 8/13 1
14-105240257-C-A c.694G>T p.Gly232Trp Missense 8/14 - 1
14-105240268-T-G c.683A>C p.Glu228Ala Missense 8/14 - 1
14-105240271-AT-CA c.679_680delinsTG p.Met227Trp Missense 8/14 - 1
14-105240271-AT-GA c.679_680delinsTC p.Met227Ser Missense 8/14 - 1
14-105240283-A-C c.668T>G p.Leu223Arg Missense 8/14 - 1
14-105240286-C-T c.665G>A p.Arg222His Missense 8/14 - 1
14-105240290-C-G c.661G>C p.Asp221His Missense 8/14 - 1
14-105240295-G-A c.656C>T p.Thr219Ile Missense 8/14 - 1
14-105240295-GT-GA c.655delinsT p.Thr219Ser Missense 8/14 - 1
14-105240296-T-C c.655A>G p.Thr219Ala Missense 8/14 - 1
14-105240298-TG-GC c.652_653delinsGC p.Gln218Ala Missense 8/14 - 1
14-105240307-T-A c.644A>T p.Tyr215Phe Missense 8/14 - 1
14-105240310-TT-GC c.640_641delinsGC p.Lys214Ala Missense 8/14 - 2
14-105240885-C-A c.633+390G>T - IntronicSNV - 7/13 4
14-105240885-C-G c.633+390G>C - IntronicSNV - 7/13 4
14-105241290-C-A c.618G>T p.Arg206Ser Missense 7/14 - 1
14-105241290-C-G c.618G>C p.Arg206Ser Missense 7/14 - 1
14-105241295-A-C c.613T>G p.Ser205Ala Missense 7/14 - 1
14-105241302-CAG-TTT c.604_606delinsAAA p.Leu202Lys Missense 7/14 - 1
14-105241304-G-A c.604C>T p.Leu202Leu Synonymous 7/14 - 1
14-105241309-CG-GA c.598_599delinsTC p.Arg200Ser Missense 7/14 - 1
14-105241309-CG-GC c.598_599delinsGC p.Arg200Ala Missense 7/14 - 1
14-105241309-C-T c.599G>A p.Arg200His Missense 7/14 - 1
14-105241310-G-A c.598C>T p.Arg200Cys Missense 7/14 - 1
14-105241319-T-C c.589A>G p.Thr197Ala Missense 7/14 - 5
14-105241324-G-A c.584C>T p.Thr195Ile Missense 7/14 - 1
14-105241325-T-C c.583A>G p.Thr195Ala Missense 7/14 - 2
14-105241327-TG-GC c.580_581delinsGC p.His194Ala Missense 7/14 - 1
14-105241331-C-T c.577G>A p.Ala193Thr Missense 7/14 - 1
14-105241336-T-G c.572A>C p.Glu191Ala Missense 7/14 - 1
14-105241337-C-T c.571G>A p.Glu191Lys Missense 7/14 - 1
14-105241378-C-A c.567+35G>T - IntronicSNV - 6/13 1
14-105241378-C-T c.567+35G>A - IntronicSNV - 6/13 1
14-105241413-C-A c.567G>T p.Lys189Asn Missense 6/14 - 2
14-105241413-C-G c.567G>C p.Lys189Asn Missense 6/14 - 2
14-105241418-C-T c.562G>A p.Ala188Thr Missense 6/14 - 1
14-105241422-G-A c.558C>T p.Ile186Ile Synonymous 6/14 - 1
14-105241429-T-G c.551A>C p.Glu184Ala Missense 6/14 - 1
14-105241432-T-A c.548A>T p.Lys183Met Missense 6/14 - 1
14-105241432-T-C c.548A>G p.Lys183Arg Missense 6/14 - 2
14-105241434-CT-GC c.545_546delinsGC p.Lys182Ser Missense 6/14 - 1
14-105241435-TT-GC c.544_545delinsGC p.Lys182Ala Missense 6/14 - 1
14-105241442-T-A c.538A>T p.Ile180Phe Missense 6/14 - 1
14-105241443-CTT-GAC c.535_537delinsGTC p.Lys179Val Missense 6/14 - 1
14-105241444-T-A c.536A>T p.Lys179Met Missense 6/14 - 74
14-105241444-TT-GC c.535_536delinsGC p.Lys179Ala Missense 6/14 - 30
14-105241445-T-G c.535A>C p.Lys179Gln Missense 6/14 - 1
14-105241448-T-C c.532A>G p.Met178Val Missense 6/14 - 1
14-105241452-G-C c.528C>G p.Tyr176* Nonsense 6/14 - 1
14-105241452-G-T c.528C>A p.Tyr176* Nonsense 6/14 - 1
14-105241453-T-A c.527A>T p.Tyr176Phe Missense 6/14 - 2
14-105241453-TA-GC c.526_527delinsGC p.Tyr176Ala Missense 6/14 - 1
14-105241456-T-A c.524A>T p.Tyr175Phe Missense 6/14 - 1
14-105241459-C-A c.521G>T p.Arg174Leu Missense 6/14 - 1
14-105241463-C-G c.517G>C p.Gly173Arg Missense 6/14 - 1
14-105241471-TT-GC c.508_509delinsGC p.Lys170Ala Missense 6/14 - 1
14-105241476-CT-GC c.503_504delinsGC p.Lys168Ser Missense 6/14 - 1
14-105241479-CAC-TTT c.499_501delinsAAA p.Val167Lys Missense 6/14 - 1
14-105241480-A-G c.500T>C p.Val167Ala Missense 6/14 - 6
14-105241484-G-A c.496C>T p.Leu166Leu Synonymous 6/14 - 1
14-105241489-A-G c.491T>C p.Val164Ala Missense 6/14 - 1
14-105241491-CT-GC c.488_489delinsGC p.Lys163Ser Missense 6/14 - 1
14-105241497-GA-GG c.482delinsC p.Phe161Ser Missense 6/14 - 1
14-105241497-G-C c.483C>G p.Phe161Leu Missense 6/14 - 2
14-105241497-G-T c.483C>A p.Phe161Leu Missense 6/14 - 2
14-105241499-A-G c.481T>C p.Phe161Leu Missense 6/14 - 2
14-105241507-T-C c.473A>G p.Lys158Arg Missense 6/14 - 2
14-105241507-T-G c.473A>C p.Lys158Thr Missense 6/14 - 1
14-105241511-C-G c.469G>C p.Gly157Arg Missense 6/14 - 1
14-105241515-CAG-GAC c.463_465delinsGTC p.Leu155Val Missense 6/14 - 1
14-105241516-AG-GA c.463_464delinsTC p.Leu155Ser Missense 6/14 - 23
14-105241516-AG-GC c.463_464delinsGC p.Leu155Ala Missense 6/14 - 3
14-105241516-AG-TC c.463_464delinsGA p.Leu155Glu Missense 6/14 - 2
14-105241517-G-C c.463C>G p.Leu155Val Missense 6/14 - 1
14-105241531-AA-AC c.448delinsG p.Phe150Val Missense 6/14 - 1
14-105241534-T-G c.446A>C p.Glu149Ala Missense 6/14 - 1
14-105241540-AT-GG c.439_440delinsCC p.Met147Pro Missense 6/14 - 1
14-105241576-G-A c.436-32C>T - IntronicSNV - 5/13 2
14-105241993-CG-GC c.430_431delinsGC p.Arg144Ala Missense 5/14 - 1
14-105241999-T-C c.425A>G p.Lys142Arg Missense 5/14 - 2
14-105242003-G-C c.421C>G p.Pro141Ala Missense 5/14 - 1
14-105242005-T-C c.419A>G p.Lys140Arg Missense 5/14 - 1
14-105242026-TC-AT c.397_398delinsAT p.Glu133Met Missense 5/14 - 1
14-105242026-T-G c.398A>C p.Glu133Ala Missense 5/14 - 2
14-105242037-TGA-GAC c.385_387delinsGTC p.Ser129Val Missense 5/14 - 2
14-105242039-A-C c.385T>G p.Ser129Ala Missense 5/14 - 3
14-105242047-CT-GC c.376_377delinsGC p.Ser126Ala Missense 5/14 - 2
14-105242051-G-C c.373C>G p.Pro125Ala Missense 5/14 - 2
14-105242052-TGA-GAC c.370_372delinsGTC p.Ser124Val Missense 5/14 - 1
14-105242054-A-C c.370T>G p.Ser124Ala Missense 5/14 - 2
14-105242058-CG-AT c.365_366delinsAT p.Ser122Tyr Missense 5/14 - 1
14-105242060-A-C c.364T>G p.Ser122Ala Missense 5/14 - 2
14-105242061-CC-AT c.362_363delinsAT p.Arg121His Missense 5/14 - 1
14-105242061-CCG-TGT c.361_363delinsACA p.Arg121Thr Missense 5/14 - 1
14-105242062-CG-GA c.361_362delinsTC p.Arg121Ser Missense 5/14 - 1
14-105242065-AA-GC c.358_359delinsGC p.Phe120Ala Missense 5/14 - 1
14-105242068-T-G c.356A>C p.Asp119Ala Missense 5/14 - 1
14-105242069-C-T c.355G>A p.Asp119Asn Missense 5/14 - 1
14-105242075-C-T c.349G>A p.Glu117Lys Missense 5/14 - 1
14-105242080-T-C c.344A>G p.Glu115Gly Missense 5/14 - 1
14-105242084-TCCT-T c.349_351del p.Glu117del InFrameDeletion 5/14 - 1
14-105242086-TG-GC c.337_338delinsGC p.Gln113Ala Missense 5/14 - 1
14-105242089-T-C c.335A>G p.Lys112Arg Missense 5/14 - 1
14-105242090-T-C c.334A>G p.Lys112Glu Missense 5/14 - 1
14-105242091-C-G c.333G>C p.Lys111Asn Missense 5/14 - 2
14-105242092-TT-GC c.331_332delinsGC p.Lys111Ala Missense 5/14 - 3
14-105242093-T-C c.331A>G p.Lys111Glu Missense 5/14 - 1
14-105242095-AG-GC c.328_329delinsGC p.Leu110Ala Missense 5/14 - 1
14-105242106-CAC-TGT c.316_318delinsACA p.Val106Thr Missense 5/14 - 3
14-105242107-A-G c.317T>C p.Val106Ala Missense 5/14 - 4
14-105242111-T-C c.313A>G p.Thr105Ala Missense 5/14 - 2
14-105242111-T-G c.313A>C p.Thr105Pro Missense 5/14 - 1
14-105242119-G-A c.305C>T p.Ala102Val Missense 5/14 - 2
14-105242122-GT-GA c.301delinsT p.Thr101Ser Missense 5/14 - 1
14-105242123-T-C c.301A>G p.Thr101Ala Missense 5/14 - 6
14-105242126-T-C c.298A>G p.Thr100Ala Missense 5/14 - 3
14-105242130-C-T c.294G>A p.Glu98Glu Synonymous 5/14 - 1
14-105242132-C-T c.292G>A p.Glu98Lys Missense 5/14 - 1
14-105242133-C-A c.291G>T p.Glu97Asp Missense 5/14 - 1
14-105242133-C-G c.291G>C p.Glu97Asp Missense 5/14 - 1
14-105242133-CTC-TGT c.289_291delinsACA p.Glu97Thr Missense 5/14 - 1
14-105242143-G-A c.288-7C>T - IntronicSNV - 4/13 1
14-105242831-C-T c.287+165G>A - IntronicSNV - 4/13 2
14-105242925-C-G c.287+71G>C - IntronicSNV - 4/13 1
14-105242925-C-T c.287+71G>A - IntronicSNV - 4/13 1
14-105242926-G-A c.287+70C>T - IntronicSNV - 4/13 1
14-105242966-T-C c.287+30A>G - IntronicSNV - 4/13 3
14-105242996-CG-GC c.286_287delinsGC p.Arg96Ala Missense 4/14 - 7
14-105242997-G-A c.286C>T p.Arg96Trp Missense 4/14 - 1
14-105242997-G-C c.286C>G p.Arg96Gly Missense 4/14 - 1
14-105242998-CTC-TGT c.283_285delinsACA p.Glu95Thr Missense 4/14 - 1
14-105242999-T-G c.284A>C p.Glu95Ala Missense 4/14 - 1
14-105243002-T-G c.281A>C p.Glu94Ala Missense 4/14 - 1
14-105243008-GT-GA c.274delinsT p.Thr92Ser Missense 4/14 - 2
14-105243009-T-C c.274A>G p.Thr92Ala Missense 4/14 - 4
14-105243010-CTC-AAC c.272_273delinsTT p.Glu91Val Missense 4/14 - 1
14-105243010-CTC-TTT c.271_273delinsAAA p.Glu91Lys Missense 4/14 - 1
14-105243014-A-G c.269T>C p.Val90Ala Missense 4/14 - 1
14-105243015-C-A c.268G>T p.Val90Leu Missense 4/14 - 1
14-105243015-C-G c.268G>C p.Val90Leu Missense 4/14 - 1
14-105243016-A-G c.267T>C p.His89His Synonymous 4/14 - 1
14-105243020-AA-GC c.262_263delinsGC p.Phe88Ala Missense 4/14 - 1
14-105243023-GT-GG c.259delinsC p.Thr87Pro Missense 4/14 - 1
14-105243025-GCG-AAG c.257_258delinsTT p.Arg86Leu Missense 4/14 - 1
14-105243026-CG-GC c.256_257delinsGC p.Arg86Ala Missense 4/14 - 3
14-105243033-T-C c.250A>G p.Ile84Val Missense 4/14 - 1
14-105243037-AGT-GAG c.244_246delinsCTC p.Thr82Leu Missense 4/14 - 1
14-105243038-GT-GA c.244delinsT p.Thr82Ser Missense 4/14 - 1
14-105243039-T-C c.244A>G p.Thr82Ala Missense 4/14 - 1
14-105243041-GT-TA c.241_242delinsTA p.Thr81Tyr Missense 4/14 - 1
14-105243041-GT-TG c.241_242delinsCA p.Thr81His Missense 4/14 - 1
14-105243043-C-A c.240G>T p.Trp80Cys Missense 4/14 - 1
14-105243043-C-G c.240G>C p.Trp80Cys Missense 4/14 - 1
14-105243044-CA-GC c.238_239delinsGC p.Trp80Ala Missense 4/14 - 7
14-105243045-A-C c.238T>G p.Trp80Gly Missense 4/14 - 1
14-105243045-A-G c.238T>C p.Trp80Arg Missense 4/14 - 4
14-105243045-A-T c.238T>A p.Trp80Arg Missense 4/14 - 4
14-105243047-T-A c.236A>T p.Gln79Leu Missense 4/14 - 7
14-105243047-T-C c.236A>G p.Gln79Arg Missense 4/14 - 1
14-105243048-G-C c.235C>G p.Gln79Glu Missense 4/14 - 2
14-105243048-G-T c.235C>A p.Gln79Lys Missense 4/14 - 31
14-105243050-AG-AC c.232delinsG p.Leu78Val Missense 4/14 - 1
14-105243052-G-A c.231C>T p.Cys77Cys Synonymous 4/14 - 1
14-105243052-GCA-GAG c.229_230delinsCT p.Cys77Leu Missense 4/14 - 1
14-105243053-C-A c.230G>T p.Cys77Phe Missense 4/14 - 4
14-105243053-C-G c.230G>C p.Cys77Ser Missense 4/14 - 1
14-105243054-A-C c.229T>G p.Cys77Gly Missense 4/14 - 2
14-105243054-A-T c.229T>A p.Cys77Ser Missense 4/14 - 1
14-105243055-GCG-TGG c.227_228delinsCA p.Arg76Pro Missense 4/14 - 3
14-105243056-CG-GC c.226_227delinsGC p.Arg76Ala Missense 4/14 - 2
14-105243063-T-C c.220A>G p.Ile74Val Missense 4/14 - 1
14-105243068-G-C c.215C>G p.Thr72Ser Missense 4/14 - 1
14-105243069-T-A c.214A>T p.Thr72Ser Missense 4/14 - 1
14-105243073-GGG-AAG c.209_210delinsTT p.Pro70Leu Missense 4/14 - 1
14-105243075-G-A c.208C>T p.Pro70Ser Missense 4/14 - 9
14-105243077-C-T c.206G>A p.Arg69Gln Missense 4/14 - 1
14-105243083-CG-GC c.199_200delinsGC p.Arg67Ala Missense 4/14 - 1
14-105243085-CTC-TGT c.196_198delinsACA p.Glu66Thr Missense 4/14 - 1
14-105243100-C-A c.183G>T p.Gln61His Missense 4/14 - 7
14-105243100-C-G c.183G>C p.Gln61His Missense 4/14 - 7
14-105243101-T-A c.182A>T p.Gln61Leu Missense 4/14 - 37
14-105243101-T-C c.182A>G p.Gln61Arg Missense 4/14 - 16
14-105243101-TG-TC c.181delinsG p.Gln61Glu Missense 4/14 - 1
14-105243102-G-T c.181C>A p.Gln61Lys Missense 4/14 - 28
14-105243103-G-A c.180C>T p.Cys60Cys Synonymous 4/14 - 1
14-105243104-C-A c.179G>T p.Cys60Phe Missense 4/14 - 2
14-105243220-G-A c.176-113C>T - IntronicSNV - 3/13 7
14-105244651-C-T c.176-1544G>A - IntronicSNV - 3/13 1
14-105245251-A-G c.175+1174T>C - IntronicSNV - 3/13 2
14-105246325-T-A c.175+100A>T - IntronicSNV - 3/13 4
14-105246407-G-A c.175+18C>T - IntronicSNV - 3/13 24
14-105246407-G-C c.175+18C>G - IntronicSNV - 3/13 23
14-105246425-G-C c.175C>G p.Gln59Glu Missense 3/14 - 1
14-105246426-C-A c.174G>T p.Ala58Ala Synonymous 3/14 - 1
14-105246426-C-G c.174G>C p.Ala58Ala Synonymous 3/14 - 1
14-105246426-CGC-TGT c.172_174delinsACA p.Ala58Thr Missense 3/14 - 1
14-105246426-CGC-TTT c.172_174delinsAAA p.Ala58Lys Missense 3/14 - 2
14-105246426-C-T c.174G>A p.Ala58Ala Synonymous 3/14 - 1
14-105246429-CAC-ATC c.170_171delinsAT p.Val57Asp Missense 3/14 - 1
14-105246436-A-T c.164T>A p.Phe55Tyr Missense 3/14 - 2
14-105246442-TT-GC c.157_158delinsGC p.Asn53Ala Missense 3/14 - 1
14-105246443-T-G c.157A>C p.Asn53His Missense 3/14 - 1
14-105246445-A-C c.155T>G p.Leu52Arg Missense 3/14 - 15
14-105246445-AG-GC c.154_155delinsGC p.Leu52Ala Missense 3/14 - 2
14-105246445-A-T c.155T>A p.Leu52His Missense 3/14 - 1
14-105246448-G-A c.152C>T p.Pro51Leu Missense 3/14 - 2
14-105246449-G-A c.151C>T p.Pro51Ser Missense 3/14 - 1
14-105246451-GC-TG c.148_149delinsCA p.Ala50His Missense 3/14 - 2
14-105246451-G-T c.149C>A p.Ala50Asp Missense 3/14 - 1
14-105246455-C-T c.145G>A p.Glu49Lys Missense 3/14 - 10
14-105246460-T-A c.140A>T p.Gln47Leu Missense 3/14 - 1
14-105246462-G-A c.138C>T p.Asp46Asp Synonymous 3/14 - 1
14-105246462-G-C c.138C>G p.Asp46Glu Missense 3/14 - 3
14-105246462-G-T c.138C>A p.Asp46Glu Missense 3/14 - 3
14-105246464-C-G c.136G>C p.Asp46His Missense 3/14 - 1
14-105246464-C-T c.136G>A p.Asp46Asn Missense 3/14 - 1
14-105246466-A-T c.134T>A p.Val45Glu Missense 3/14 - 1
14-105246468-A-C c.132T>G p.Asp44Glu Missense 3/14 - 1
14-105246468-A-T c.132T>A p.Asp44Glu Missense 3/14 - 1
14-105246469-T-G c.131A>C p.Asp44Ala Missense 3/14 - 2
14-105246470-C-T c.130G>A p.Asp44Asn Missense 3/14 - 2
14-105246473-G-A c.127C>T p.Gln43* Nonsense 3/14 - 5
14-105246476-G-T c.124C>A p.Pro42Thr Missense 3/14 - 3
14-105246477-CCG-TGT c.121_123delinsACA p.Arg41Thr Missense 3/14 - 1
14-105246482-C-T c.118G>A p.Glu40Lys Missense 3/14 - 19
14-105246483-C-A c.117G>T p.Lys39Asn Missense 3/14 - 2
14-105246483-CT-TC c.116_117delinsGA p.Lys39Arg Missense 3/14 - 1
14-105246484-TT-GC c.115_116delinsGC p.Lys39Ala Missense 3/14 - 1
14-105246490-C-G c.110G>C p.Gly37Ala Missense 3/14 - 1
14-105246491-C-G c.109G>C p.Gly37Arg Missense 3/14 - 3
14-105246495-GAA-GAG c.103delinsC p.Phe35Leu Missense 3/14 - 1
14-105246496-AA-GA c.104delinsC p.Phe35Ser Missense 3/14 - 1
14-105246495-G-C c.105C>G p.Phe35Leu Missense 3/14 - 1
14-105246495-G-T c.105C>A p.Phe35Leu Missense 3/14 - 1
14-105246497-A-G c.103T>C p.Phe35Leu Missense 3/14 - 1
14-105246500-T-C c.100A>G p.Thr34Ala Missense 3/14 - 3
14-105246502-C-T c.98G>A p.Gly33Asp Missense 3/14 - 1
14-105246504-A-C c.96T>G p.Asp32Glu Missense 3/14 - 1
14-105246504-A-G c.96T>C p.Asp32Asp Synonymous 3/14 - 1
14-105246506-C-A c.94G>T p.Asp32Tyr Missense 3/14 - 3
14-105246506-C-G c.94G>C p.Asp32His Missense 3/14 - 3
14-105246506-C-T c.94G>A p.Asp32Asn Missense 3/14 - 1
14-105246508-T-C c.92A>G p.Asn31Ser Missense 3/14 - 1
14-105246511-TT-GC c.88_89delinsGC p.Lys30Ala Missense 3/14 - 3
14-105246513-GAG-ATG c.86_87delinsAT p.Leu29His Missense 3/14 - 1
14-105246513-GAG-TAA c.85_87delinsTTA p.Leu29Leu Nonsense 3/14 - 1
14-105246514-AG-TA c.85_86delinsTA p.Leu29Tyr Missense 3/14 - 1
14-105246517-A-G c.83T>C p.Leu28Pro Missense 3/14 - 1
14-105246518-G-A c.82C>T p.Leu28Phe Missense 3/14 - 2
14-105246518-G-C c.82C>G p.Leu28Val Missense 3/14 - 1
14-105246520-AA-GA c.80delinsC p.Phe27Ser Missense 3/14 - 1
14-105246521-A-C c.79T>G p.Phe27Val Missense 3/14 - 1
14-105246522-GTA-AAG c.76_78delinsCTT p.Tyr26Leu Missense 3/14 - 1
14-105246523-TA-GC c.76_77delinsGC p.Tyr26Ala Missense 3/14 - 1
14-105246523-T-C c.77A>G p.Tyr26Cys Missense 3/14 - 1
14-105246524-A-C c.76T>G p.Tyr26Asp Missense 3/14 - 1
14-105246525-G-A c.75C>T p.Arg25Arg Synonymous 3/14 - 1
14-105246525-GCG-GAG c.74delinsT p.Arg25Leu Missense 3/14 - 1
14-105246526-C-G c.74G>C p.Arg25Pro Missense 3/14 - 1
14-105246526-CG-AC c.73_74delinsGT p.Arg25Val Missense 3/14 - 6
14-105246526-CG-GC c.73_74delinsGC p.Arg25Ala Missense 3/14 - 6
14-105246526-C-T c.74G>A p.Arg25His Missense 3/14 - 3
14-105246527-G-A c.73C>T p.Arg25Cys Missense 3/14 - 14
14-105246528-TG-AT c.71_72delinsAT p.Pro24His Missense 3/14 - 1
14-105246528-TGG-ATG c.71_72delinsAT p.Pro24His Missense 3/14 - 1
14-105246529-G-A c.71C>T p.Pro24Leu Missense 3/14 - 2
14-105246530-G-C c.70C>G p.Pro24Ala Missense 3/14 - 1
14-105246531-CCG-GAC c.67_69delinsGTC p.Arg23Val Missense 3/14 - 1
14-105246532-CG-AA c.67_68delinsTT p.Arg23Leu Missense 3/14 - 1
14-105246532-CG-GC c.67_68delinsGC p.Arg23Ala Missense 3/14 - 3
14-105246532-C-T c.68G>A p.Arg23Gln Missense 3/14 - 1
14-105246536-A-C c.64T>G p.Trp22Gly Missense 3/14 - 1
14-105246537-GGT-CAA c.61_63delinsTTG p.Thr21Leu Missense 3/14 - 1
14-105246537-GGT-GAG c.61_62delinsCT p.Thr21Leu Missense 3/14 - 1
14-105246538-G-A c.62C>T p.Thr21Ile Missense 3/14 - 2
14-105246538-G-T c.62C>A p.Thr21Asn Missense 3/14 - 1
14-105246538-GT-CT c.62delinsG p.Thr21Ser Missense 3/14 - 1
14-105246539-T-C c.61A>G p.Thr21Ala Missense 3/14 - 1
14-105246540-CTT-TAT c.59_60delinsTA p.Lys20Ile Missense 3/14 - 1
14-105246540-CTT-TTT c.60delinsA p.Lys20Lys Missense 3/14 - 1
14-105246541-T-C c.59A>G p.Lys20Arg Missense 3/14 - 3
14-105246541-TT-GC c.58_59delinsGC p.Lys20Ala Missense 3/14 - 1
14-105246542-T-A c.58A>T p.Lys20* Nonsense 3/14 - 1
14-105246542-T-G c.58A>C p.Lys20Gln Missense 3/14 - 1
14-105246543-GAT-GAG c.55delinsC p.Ile19Leu Missense 3/14 - 1
14-105246545-T-G c.55A>C p.Ile19Leu Missense 3/14 - 1
14-105246547-T-G c.53A>C p.Tyr18Ser Missense 3/14 - 1
14-105246550-CTCC-C c.49_51del p.Glu17del InFrameDeletion 3/14 - 2
14-105246550-T-C c.50A>G p.Glu17Gly Missense 3/14 - 1
14-105246550-TC-AG c.49_50delinsCT p.Glu17Leu Missense 3/14 - 1
14-105246550-TC-CT c.49_50delinsAG p.Glu17Arg Missense 3/14 - 1
14-105246551-C-G c.49G>C p.Glu17Gln Missense 3/14 - 2
14-105246551-C-T c.49G>A p.Glu17Lys Missense 3/14 - 551
14-105246552-C-A c.48G>T p.Gly16Gly Synonymous 3/14 - 1
14-105246552-C-G c.48G>C p.Gly16Gly Synonymous 3/14 - 1
14-105246552-C-T c.48G>A p.Gly16Gly Synonymous 3/14 - 1
14-105246553-C-T c.47G>A p.Gly16Glu Missense 3/14 - 1
14-105246565-C-T c.47-12G>A - IntronicSNV - 2/13 1
14-105246629-G-A c.47-76C>T - IntronicSNV - 2/13 1
14-105246686-G-A c.47-133C>T - IntronicSNV - 2/13 17
14-105247881-A-T c.47-1328T>A - IntronicSNV - 2/13 3
14-105250045-A-G c.47-3492T>C - IntronicSNV - 2/13 5
14-105251086-G-A c.47-4533C>T - IntronicSNV - 2/13 1
14-105251720-T-C c.47-5167A>G - IntronicSNV - 2/13 4
14-105253009-A-G c.46+5926T>C - IntronicSNV - 2/13 2
14-105255814-A-G c.46+3121T>C - IntronicSNV - 2/13 2
14-105256581-T-C c.46+2354A>G - IntronicSNV - 2/13 1
14-105257719-C-G c.46+1216G>C - IntronicSNV - 2/13 7
14-105258892-C-T c.46+43G>A - IntronicSNV - 2/13 2
14-105258893-A-C c.46+42T>G - IntronicSNV - 2/13 2
14-105258893-A-G c.46+42T>C - IntronicSNV - 2/13 2
14-105258935-C-T c.46G>A p.Gly16Arg Missense 2/14 - 1
14-105258936-TCG-GAC c.43_45delinsGTC p.Arg15Val Missense 2/14 - 1
14-105258937-CG-GA c.43_44delinsTC p.Arg15Ser Missense 2/14 - 1
14-105258937-CG-GC c.43_44delinsGC p.Arg15Ala Missense 2/14 - 2
14-105258937-CG-GT c.43_44delinsAC p.Arg15Thr Missense 2/14 - 1
14-105258937-C-T c.44G>A p.Arg15Gln Missense 2/14 - 1
14-105258940-T-C c.41A>G p.Lys14Arg Missense 2/14 - 10
14-105258940-TT-GC c.40_41delinsGC p.Lys14Ala Missense 2/14 - 2
14-105258941-T-G c.40A>C p.Lys14Gln Missense 2/14 - 2
14-105258943-TG-GC c.37_38delinsGC p.His13Ala Missense 2/14 - 2
14-105258944-G-C c.37C>G p.His13Asp Missense 2/14 - 1
14-105258946-A-C c.35T>G p.Leu12Arg Missense 2/14 - 1
14-105258949-C-T c.32G>A p.Trp11* Nonsense 2/14 - 1
14-105258951-A-C c.30T>G p.Gly10Gly Synonymous 2/14 - 1
14-105258951-A-G c.30T>C p.Gly10Gly Synonymous 2/14 - 1
14-105258951-A-T c.30T>A p.Gly10Gly Synonymous 2/14 - 1
14-105258952-C-A c.29G>T p.Gly10Val Missense 2/14 - 1
14-105258966-A-C c.15T>G p.Ala5Ala Synonymous 2/14 - 1
14-105259706-C-T c.-322G>A - 5_prime_UTR_variant 1/14 - 5
14-105259734-C-A c.-350G>T - 5_prime_UTR_variant 1/14 - 58