Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
1-32256229-T-G | c.3626A>C | p.E1209A | Missense | 16/16 | - | 1 |
1-32256230-C-T | c.3625G>A | p.E1209K | Missense | 16/16 | - | 1 |
1-32256234-GC-CT | c.3620_3621delinsAG | p.G1207E | Missense | 16/16 | - | 1 |
1-32256242-C-T | c.3613G>A | p.E1205K | Missense | 16/16 | - | 2 |
1-32256245-C-A | c.3610G>T | p.D1204Y | Missense | 16/16 | - | 1 |
1-32256251-G-A | c.3604C>T | p.P1202S | Missense | 16/16 | - | 1 |
1-32256256-A-T | c.3599T>A | p.L1200* | Nonsense | 16/16 | - | 1 |
1-32256261-G-A | c.3594C>T | p.S1198= | Synonymous | 16/16 | - | 2 |
1-32256261-G-C | c.3594C>G | p.S1198= | Synonymous | 16/16 | - | 1 |
1-32256268-C-T | c.3587G>A | p.R1196H | Missense | 16/16 | - | 1 |
1-32256275-G-A | c.3580C>T | p.P1194S | Missense | 16/16 | - | 2 |
1-32256277-C-T | c.3578G>A | p.G1193D | Missense | 16/16 | - | 1 |
1-32256280-G-A | c.3575C>T | p.P1192L | Missense | 16/16 | - | 1 |
1-32256280-GG-AA | c.3574_3575delinsTT | p.P1192F | Missense | 16/16 | - | 1 |
1-32256282-G-A | c.3573C>T | p.P1191= | Synonymous | 16/16 | - | 1 |
1-32256282-G-C | c.3573C>G | p.P1191= | Synonymous | 16/16 | - | 3 |
1-32256282-G-T | c.3573C>A | p.P1191= | Synonymous | 16/16 | - | 1 |
1-32256279-AG-A | c.3575del | p.P1192Lfs*36 | Frameshift | 16/16 | - | 2 |
1-32256285-C-T | c.3570G>A | p.E1190= | Synonymous | 16/16 | - | 1 |
1-32256287-C-CA | c.3567_3568insT | p.E1190* | Nonsense | 16/16 | - | 1 |
1-32256294-T-A | c.3561A>T | p.A1187= | Synonymous | 16/16 | - | 2 |
1-32256296-C-T | c.3559G>A | p.A1187T | Missense | 16/16 | - | 1 |
1-32256299-G-A | c.3556C>T | p.L1186F | Missense | 16/16 | - | 1 |
1-32256302-C-A | c.3553G>T | p.A1185S | Missense | 16/16 | - | 1 |
1-32256302-C-T | c.3553G>A | p.A1185T | Missense | 16/16 | - | 2 |
1-32256303-G-A | c.3552C>T | p.S1184= | Synonymous | 16/16 | - | 3 |
1-32256313-C-T | c.3542G>A | p.R1181H | Missense | 16/16 | - | 8 |
1-32256316-T-A | c.3539A>T | p.Q1180L | Missense | 16/16 | - | 1 |
1-32256320-G-A | c.3535C>T | p.L1179= | Synonymous | 16/16 | - | 1 |
1-32256325-C-T | c.3530G>A | p.R1177H | Missense | 16/16 | - | 1 |
1-32256328-G-A | c.3527C>T | p.P1176L | Missense | 16/16 | - | 2 |
1-32256329-G-A | c.3526C>T | p.P1176S | Missense | 16/16 | - | 3 |
1-32256332-T-G | c.3523A>C | p.I1175L | Missense | 16/16 | - | 1 |
1-32256336-G-C | c.3519C>G | p.S1173R | Missense | 16/16 | - | 1 |
1-32256336-G-T | c.3519C>A | p.S1173R | Missense | 16/16 | - | 2 |
1-32256338-T-G | c.3517A>C | p.S1173R | Missense | 16/16 | - | 1 |
1-32256344-T-G | c.3511A>C | p.T1171P | Missense | 16/16 | - | 1 |
1-32256348-G-A | c.3507C>T | p.P1169= | Synonymous | 16/16 | - | 1 |
1-32256346-T-TG | c.3508dup | p.Q1170Pfs*15 | Frameshift | 16/16 | - | 1 |
1-32256352-C-T | c.3503G>A | p.C1168Y | Missense | 16/16 | - | 2 |
1-32256355-A-T | c.3500T>A | p.L1167Q | Missense | 16/16 | - | 1 |
1-32256366-G-A | c.3489C>T | p.L1163= | Synonymous | 16/16 | - | 1 |
1-32256375-A-C | c.3480T>G | p.S1160R | Missense | 16/16 | - | 1 |
1-32256375-A-T | c.3480T>A | p.S1160R | Missense | 16/16 | - | 1 |
1-32256377-T-G | c.3478A>C | p.S1160R | Missense | 16/16 | - | 1 |
1-32256383-T-G | c.3472A>C | p.T1158P | Missense | 16/16 | - | 1 |
1-32256384-C-A | c.3471G>T | p.A1157= | Synonymous | 16/16 | - | 2 |
1-32256384-C-G | c.3471G>C | p.A1157= | Synonymous | 16/16 | - | 2 |
1-32256384-C-T | c.3471G>A | p.A1157= | Synonymous | 16/16 | - | 3 |
1-32256385-G-A | c.3470C>T | p.A1157V | Missense | 16/16 | - | 1 |
1-32256390-G-A | c.3465C>T | p.S1155= | Synonymous | 16/16 | - | 2 |
1-32256392-A-T | c.3463T>A | p.S1155T | Missense | 16/16 | - | 1 |
1-32256396-G-A | c.3459C>T | p.L1153= | Synonymous | 16/16 | - | 2 |
1-32256403-C-T | c.3452G>A | p.R1151Q | Missense | 16/16 | - | 1 |
1-32256411-G-A | c.3444C>T | p.A1148= | Synonymous | 16/16 | - | 1 |
1-32256417-G-A | c.3438C>T | p.H1146= | Synonymous | 16/16 | - | 1 |
1-32256419-G-A | c.3436C>T | p.H1146Y | Missense | 16/16 | - | 1 |
1-32256421-G-A | c.3434C>T | p.P1145L | Missense | 16/16 | - | 2 |
1-32256433-C-T | c.3422G>A | p.R1141K | Missense | 16/16 | - | 2 |
1-32256442-T-A | c.3413A>T | p.H1138L | Missense | 16/16 | - | 1 |
1-32256442-T-C | c.3413A>G | p.H1138R | Missense | 16/16 | - | 2 |
1-32256443-G-A | c.3412C>T | p.H1138Y | Missense | 16/16 | - | 2 |
1-32256451-C-T | c.3404G>A | p.R1135H | Missense | 16/16 | - | 1 |
1-32256464-G-A | c.3391C>T | p.H1131Y | Missense | 16/16 | - | 1 |
1-32256470-C-T | c.3385G>A | p.A1129T | Missense | 16/16 | - | 1 |
1-32256479-C-T | c.3376G>A | p.V1126I | Missense | 16/16 | - | 1 |
1-32256502-C-T | c.3353G>A | p.R1118H | Missense | 16/16 | - | 1 |
1-32256508-C-T | c.3347G>A | p.G1116D | Missense | 16/16 | - | 5 |
1-32256516-T-C | c.3339A>G | p.P1113= | Synonymous | 16/16 | - | 1 |
1-32256519-G-A | c.3336C>T | p.P1112= | Synonymous | 16/16 | - | 1 |
1-32256530-C-T | c.3325G>A | p.G1109R | Missense | 16/16 | - | 2 |
1-32256539-G-A | c.3316C>T | p.P1106S | Missense | 16/16 | - | 1 |
1-32256539-G-GT | c.3315_3316insA | p.P1106Tfs*79 | Frameshift | 16/16 | - | 1 |
1-32256541-T-A | c.3314A>T | p.H1105L | Missense | 16/16 | - | 1 |
1-32256546-C-T | c.3309G>A | p.W1103* | Nonsense | 16/16 | - | 1 |
1-32256547-C-T | c.3308G>A | p.W1103* | Nonsense | 16/16 | - | 1 |
1-32256560-C-T | c.3295G>A | p.E1099K | Missense | 16/16 | - | 1 |
1-32256562-G-T | c.3293C>A | p.P1098Q | Missense | 16/16 | - | 1 |
1-32256563-G-A | c.3292C>T | p.P1098S | Missense | 16/16 | - | 2 |
1-32256564-C-T | c.3291G>A | p.W1097* | Nonsense | 16/16 | - | 1 |
1-32256567-G-A | c.3288C>T | p.L1096= | Synonymous | 16/16 | - | 1 |
1-32256568-A-G | c.3287T>C | p.L1096P | Missense | 16/16 | - | 2 |
1-32256569-G-A | c.3286C>T | p.L1096F | Missense | 16/16 | - | 4 |
1-32256572-CT-C | c.3283del | p.R1095Gfs*32 | Frameshift | 16/16 | - | 1 |
1-32256572-T-C | c.3283A>G | p.R1095G | Missense | 16/16 | - | 2 |
1-32256575-C-A | c.3280G>T | p.G1094W | Missense | 16/16 | - | 1 |
1-32256577-C-T | c.3278G>A | p.R1093K | Missense | 16/16 | - | 1 |
1-32256580-C-T | c.3275G>A | p.G1092D | Missense | 16/16 | - | 1 |
1-32256582-TCT-ATG | c.3271_3273delinsCAT | p.R1091H | Missense | 16/16 | - | 1 |
1-32256584-T-TG | c.3270dup | p.R1091Qfs*11 | Frameshift | 16/16 | - | 1 |
1-32256590-G-A | c.3265C>T | p.P1089S | Missense | 16/16 | - | 5 |
1-32256592-C-T | c.3263G>A | p.R1088K | Missense | 16/16 | - | 3 |
1-32256594-C-A | c.3261G>T | p.Q1087H | Missense | 16/16 | - | 1 |
1-32256594-C-G | c.3261G>C | p.Q1087H | Missense | 16/16 | - | 1 |
1-32256606-G-C | c.3249C>G | p.I1083M | Missense | 16/16 | - | 1 |
1-32256606-G-T | c.3249C>A | p.I1083= | Synonymous | 16/16 | - | 1 |
1-32256610-C-T | c.3245G>A | p.G1082E | Missense | 16/16 | - | 5 |
1-32256616-G-A | c.3239C>T | p.P1080L | Missense | 16/16 | - | 1 |
1-32256625-C-A | c.3230G>T | p.S1077I | Missense | 16/16 | - | 1 |
1-32256625-C-G | c.3230G>C | p.S1077T | Missense | 16/16 | - | 1 |
1-32256627-G-A | c.3228C>T | p.G1076= | Synonymous | 16/16 | - | 1 |
1-32256628-C-T | c.3227G>A | p.G1076D | Missense | 16/16 | - | 2 |
1-32256633-G-A | c.3222C>T | p.G1074= | Synonymous | 16/16 | - | 2 |
1-32256633-G-C | c.3222C>G | p.G1074= | Synonymous | 16/16 | - | 2 |
1-32256633-G-T | c.3222C>A | p.G1074= | Synonymous | 16/16 | - | 3 |
1-32256642-C-A | c.3213G>T | p.Q1071H | Missense | 16/16 | - | 2 |
1-32256642-C-G | c.3213G>C | p.Q1071H | Missense | 16/16 | - | 1 |
1-32256655-C-G | c.3200G>C | p.G1067A | Missense | 16/16 | - | 1 |
1-32256658-C-T | c.3197G>A | p.G1066E | Missense | 16/16 | - | 2 |
1-32256659-C-T | c.3196G>A | p.G1066R | Missense | 16/16 | - | 1 |
1-32256665-G-A | c.3190C>T | p.P1064S | Missense | 16/16 | - | 1 |
1-32256665-G-T | c.3190C>A | p.P1064T | Missense | 16/16 | - | 1 |
1-32256678-C-T | c.3177G>A | p.L1059= | Synonymous | 16/16 | - | 2 |
1-32256690-C-T | c.3165G>A | p.P1055= | Synonymous | 16/16 | - | 1 |
1-32256702-A-G | c.3153T>C | p.D1051= | Synonymous | 16/16 | - | 2 |
1-32256710-G-A | c.3145C>T | p.Q1049* | Nonsense | 16/16 | - | 4 |
1-32256715-T-C | c.3140A>G | p.Y1047C | Missense | 16/16 | - | 1 |
1-32256717-T-A | c.3138A>T | p.R1046S | Missense | 16/16 | - | 1 |
1-32256723-C-T | c.3132G>A | p.E1044= | Synonymous | 16/16 | - | 1 |
1-32256728-C-T | c.3127G>A | p.V1043M | Missense | 16/16 | - | 2 |
1-32256732-A-G | c.3123T>C | p.S1041= | Synonymous | 16/16 | - | 1 |
1-32256742-G-A | c.3113C>T | p.S1038F | Missense | 16/16 | - | 5 |
1-32256746-C-A | c.3109G>T | p.V1037F | Missense | 16/16 | - | 1 |
1-32256746-C-T | c.3109G>A | p.V1037I | Missense | 16/16 | - | 1 |
1-32256753-T-A | c.3102A>T | p.Q1034H | Missense | 16/16 | - | 1 |
1-32256753-T-G | c.3102A>C | p.Q1034H | Missense | 16/16 | - | 1 |
1-32256755-G-C | c.3100C>G | p.Q1034E | Missense | 16/16 | - | 1 |
1-32256763-CC-TT | c.3091_3092delinsAA | p.G1031K | Missense | 16/16 | - | 1 |
1-32256764-C-G | c.3091G>C | p.G1031R | Missense | 16/16 | - | 2 |
1-32256764-C-T | c.3091G>A | p.G1031R | Missense | 16/16 | - | 2 |
1-32256761-TC-T | c.3093del | p.K1032Rfs*28 | Frameshift | 16/16 | - | 2 |
1-32256773-G-A | c.3082C>T | p.P1028S | Missense | 16/16 | - | 2 |
1-32256774-G-T | c.3081C>A | p.S1027R | Missense | 16/16 | - | 1 |
1-32256792-T-TGCTCCCCAA | c.3062_3063insTTGGGGAGC | p.P1021_D1022insWGA | InFrameInsertion | 16/16 | - | 1 |
1-32256799-C-G | c.3056G>C | p.G1019A | Missense | 16/16 | - | 1 |
1-32256803-C-T | c.3052G>A | p.E1018K | Missense | 16/16 | - | 1 |
1-32256804-C-CAGACACAGCAGGGTCCAGCCCCTGG | c.3050_3051insCCAGGGGCTGGACCCTGCTGTGTCT | p.K1017Nfs*34 | Frameshift | 16/16 | - | 1 |
1-32256809-G-A | c.3046C>T | p.P1016S | Missense | 16/16 | - | 1 |
1-32256815-G-A | c.3040C>T | p.L1014= | Synonymous | 16/16 | - | 1 |
1-32256822-C-A | c.3033G>T | p.L1011= | Synonymous | 16/16 | - | 2 |
1-32256822-C-G | c.3033G>C | p.L1011= | Synonymous | 16/16 | - | 1 |
1-32256822-C-T | c.3033G>A | p.L1011= | Synonymous | 16/16 | - | 1 |
1-32256824-G-A | c.3031C>T | p.L1011= | Synonymous | 16/16 | - | 1 |
1-32256838-T-C | c.3017A>G | p.H1006R | Missense | 16/16 | - | 1 |
1-32256846-C-T | c.3009G>A | p.E1003= | Synonymous | 16/16 | - | 3 |
1-32256853-C-T | c.3002G>A | p.G1001D | Missense | 16/16 | - | 1 |
1-32256878-G-A | c.2977C>T | p.P993S | Missense | 16/16 | - | 1 |
1-32256881-G-A | c.2974C>T | p.L992F | Missense | 16/16 | - | 5 |
1-32256885-C-A | c.2970G>T | p.W990C | Missense | 16/16 | - | 2 |
1-32256885-C-G | c.2970G>C | p.W990C | Missense | 16/16 | - | 1 |
1-32256891-GC-CT | c.2963_2964delinsAG | p.G988E | Missense | 16/16 | - | 1 |
1-32256892-C-T | c.2963G>A | p.G988D | Missense | 16/16 | - | 2 |
1-32257816-C-A | c.2962G>T | p.G988C | Missense | 15/16 | - | 1 |
1-32257818-G-T | c.2960C>A | p.P987Q | Missense | 15/16 | - | 1 |
1-32257825-C-T | c.2953G>A | p.G985R | Missense | 15/16 | - | 1 |
1-32257820-GC-G | c.2957del | p.G986Afs*74 | Frameshift | 15/16 | - | 1 |
1-32257830-GG-AA | c.2947_2948delinsTT | p.P983F | Missense | 15/16 | - | 1 |
1-32257831-G-A | c.2947C>T | p.P983S | Missense | 15/16 | - | 2 |
1-32257831-G-T | c.2947C>A | p.P983T | Missense | 15/16 | - | 1 |
1-32257833-C-T | c.2945G>A | p.R982H | Missense | 15/16 | - | 2 |
1-32257835-C-A | c.2943G>T | p.L981= | Synonymous | 15/16 | - | 2 |
1-32257835-C-G | c.2943G>C | p.L981= | Synonymous | 15/16 | - | 1 |
1-32257835-C-T | c.2943G>A | p.L981= | Synonymous | 15/16 | - | 1 |
1-32257837-G-A | c.2941C>T | p.L981= | Synonymous | 15/16 | - | 1 |
1-32257847-C-A | c.2931G>T | p.L977= | Synonymous | 15/16 | - | 2 |
1-32257847-C-G | c.2931G>C | p.L977= | Synonymous | 15/16 | - | 2 |
1-32257847-C-T | c.2931G>A | p.L977= | Synonymous | 15/16 | - | 3 |
1-32257849-G-A | c.2929C>T | p.L977= | Synonymous | 15/16 | - | 2 |
1-32257851-G-A | c.2927C>T | p.P976L | Missense | 15/16 | - | 2 |
1-32257852-G-C | c.2926C>G | p.P976A | Missense | 15/16 | - | 1 |
1-32257853-C-A | c.2925G>T | p.Q975H | Missense | 15/16 | - | 1 |
1-32257853-C-G | c.2925G>C | p.Q975H | Missense | 15/16 | - | 1 |
1-32257867-G-A | c.2911C>T | p.L971= | Synonymous | 15/16 | - | 2 |
1-32257868-G-A | c.2910C>T | p.P970= | Synonymous | 15/16 | - | 1 |
1-32257868-G-C | c.2910C>G | p.P970= | Synonymous | 15/16 | - | 1 |
1-32257868-G-T | c.2910C>A | p.P970= | Synonymous | 15/16 | - | 1 |
1-32257880-C-A | c.2898G>T | p.M966I | Missense | 15/16 | - | 1 |
1-32257880-C-G | c.2898G>C | p.M966I | Missense | 15/16 | - | 1 |
1-32257880-C-T | c.2898G>A | p.M966I | Missense | 15/16 | - | 1 |
1-32257887-A-G | c.2891T>C | p.M964T | Missense | 15/16 | - | 1 |
1-32257898-A-C | c.2880T>G | p.S960= | Synonymous | 15/16 | - | 1 |
1-32257898-A-G | c.2880T>C | p.S960= | Synonymous | 15/16 | - | 1 |
1-32257898-A-T | c.2880T>A | p.S960= | Synonymous | 15/16 | - | 2 |
1-32257899-G-A | c.2879C>T | p.S960F | Missense | 15/16 | - | 3 |
1-32257899-G-T | c.2879C>A | p.S960Y | Missense | 15/16 | - | 1 |
1-32257909-C-G | c.2869G>C | p.G957R | Missense | 15/16 | - | 1 |
1-32257909-C-T | c.2869G>A | p.G957R | Missense | 15/16 | - | 1 |
1-32257911-T-G | c.2867A>C | p.H956P | Missense | 15/16 | - | 1 |
1-32257914-C-T | c.2864G>A | p.R955H | Missense | 15/16 | - | 2 |
1-32257920-C-G | c.2858G>C | p.R953T | Missense | 15/16 | - | 1 |
1-32257920-C-T | c.2858G>A | p.R953K | Missense | 15/16 | - | 2 |
1-32257930-G-A | c.2848C>T | p.L950F | Missense | 15/16 | - | 1 |
1-32257932-T-C | c.2846A>G | p.Y949C | Missense | 15/16 | - | 1 |
1-32257942-G-A | c.2836C>T | p.L946F | Missense | 15/16 | - | 1 |
1-32257960-T-G | c.2818A>C | p.T940P | Missense | 15/16 | - | 3 |
1-32257964-CC-AT | c.2813_2814delinsAT | p.R938H | Missense | 15/16 | - | 1 |
1-32257964-C-T | c.2814G>A | p.R938= | Synonymous | 15/16 | - | 1 |
1-32257968-G-T | c.2810C>A | p.A937D | Missense | 15/16 | - | 2 |
1-32257971-C-A | c.2807G>T | p.G936V | Missense | 15/16 | - | 1 |
1-32257972-C-A | c.2806G>T | p.G936W | Missense | 15/16 | - | 1 |
1-32257977-G-A | c.2801C>T | p.P934L | Missense | 15/16 | - | 1 |
1-32257979-G-A | c.2799C>T | p.C933= | Synonymous | 15/16 | - | 1 |
1-32257986-C-G | c.2792G>C | p.R931T | Missense | 15/16 | - | 1 |
1-32257989-A-C | c.2789T>G | p.V930G | Missense | 15/16 | - | 1 |
1-32258000-G-A | c.2778C>T | p.D926= | Synonymous | 15/16 | - | 3 |
1-32258279-C-A | c.2775G>T | p.K925N | Missense | 14/16 | - | 2 |
1-32258279-C-G | c.2775G>C | p.K925N | Missense | 14/16 | - | 2 |
1-32258283-G-A | c.2771C>T | p.A924V | Missense | 14/16 | - | 1 |
1-32258294-G-A | c.2760C>T | p.C920= | Synonymous | 14/16 | - | 3 |
1-32258295-CA-GT | c.2758_2759delinsAC | p.C920T | Missense | 14/16 | - | 1 |
1-32258311-G-A | c.2743C>T | p.L915F | Missense | 14/16 | - | 4 |
1-32258314-C-A | c.2740G>T | p.D914Y | Missense | 14/16 | - | 1 |
1-32258315-C-T | c.2739G>A | p.W913* | Nonsense | 14/16 | - | 3 |
1-32258316-C-T | c.2738G>A | p.W913* | Nonsense | 14/16 | - | 4 |
1-32258337-CA-GT | c.2716_2717delinsAC | p.C906T | Missense | 14/16 | - | 1 |
1-32258345-C-T | c.2709G>A | p.S903= | Synonymous | 14/16 | - | 1 |
1-32258350-G-A | c.2704C>T | p.R902C | Missense | 14/16 | - | 4 |
1-32258358-G-A | c.2696C>T | p.T899I | Missense | 14/16 | - | 5 |
1-32258362-G-A | c.2692C>T | p.P898S | Missense | 14/16 | - | 2 |
1-32258805-AAG-A | c.2685+72_2685+73del | - | IntronicDeletion | - | 13/15 | 2 |
1-32258884-C-A | c.2680G>T | p.V894F | Missense | 13/16 | - | 1 |
1-32258889-C-G | c.2675G>C | p.R892P | Missense | 13/16 | - | 1 |
1-32258890-G-A | c.2674C>T | p.R892W | Missense | 13/16 | - | 1 |
1-32258906-G-A | c.2658C>T | p.V886= | Synonymous | 13/16 | - | 3 |
1-32258925-C-T | c.2639G>A | p.R880Q | Missense | 13/16 | - | 2 |
1-32258926-G-A | c.2638C>T | p.R880W | Missense | 13/16 | - | 2 |
1-32258931-C-T | c.2633G>A | p.R878Q | Missense | 13/16 | - | 7 |
1-32258947-T-C | c.2617A>G | p.M873V | Missense | 13/16 | - | 1 |
1-32258953-G-A | c.2611C>T | p.L871= | Synonymous | 13/16 | - | 1 |
1-32258961-T-G | c.2603A>C | p.E868A | Missense | 13/16 | - | 1 |
1-32258966-G-A | c.2598C>T | p.P866= | Synonymous | 13/16 | - | 2 |
1-32258968-G-A | c.2596C>T | p.P866S | Missense | 13/16 | - | 1 |
1-32258971-G-A | c.2593C>T | p.P865S | Missense | 13/16 | - | 1 |
1-32258976-C-T | c.2588G>A | p.C863Y | Missense | 13/16 | - | 1 |
1-32258980-G-T | c.2584C>A | p.P862T | Missense | 13/16 | - | 1 |
1-32258991-G-A | c.2573C>T | p.T858I | Missense | 13/16 | - | 1 |
1-32258994-G-T | c.2570C>A | p.P857H | Missense | 13/16 | - | 1 |
1-32258998-C-A | c.2566G>T | p.A856S | Missense | 13/16 | - | 1 |
1-32258999-A-C | c.2565T>G | p.A855= | Synonymous | 13/16 | - | 1 |
1-32258999-A-G | c.2565T>C | p.A855= | Synonymous | 13/16 | - | 1 |
1-32258999-A-T | c.2565T>A | p.A855= | Synonymous | 13/16 | - | 1 |
1-32259007-C-T | c.2557G>A | p.V853M | Missense | 13/16 | - | 1 |
1-32259011-G-A | c.2553C>T | p.L851= | Synonymous | 13/16 | - | 2 |
1-32259011-G-C | c.2553C>G | p.L851= | Synonymous | 13/16 | - | 2 |
1-32259011-G-T | c.2553C>A | p.L851= | Synonymous | 13/16 | - | 2 |
1-32259013-G-T | c.2551C>A | p.L851I | Missense | 13/16 | - | 1 |
1-32259014-C-T | c.2550G>A | p.G850= | Synonymous | 13/16 | - | 2 |
1-32259013-GCC-G | c.2549_2550del | p.G850Afs*102 | Frameshift | 13/16 | - | 1 |
1-32259018-G-C | c.2546C>G | p.S849C | Missense | 13/16 | - | 1 |
1-32259229-G-A | c.2534+119C>T | - | IntronicSNV | - | 12/15 | 1 |
1-32259323-C-T | c.2534+25G>A | - | IntronicSNV | - | 12/15 | 1 |
1-32259350-G-C | c.2532C>G | p.D844E | Missense | 12/16 | - | 1 |
1-32259350-G-T | c.2532C>A | p.D844E | Missense | 12/16 | - | 1 |
1-32259353-C-T | c.2529G>A | p.Q843= | Synonymous | 12/16 | - | 4 |
1-32259354-T-C | c.2528A>G | p.Q843R | Missense | 12/16 | - | 2 |
1-32259361-C-T | c.2521G>A | p.E841K | Missense | 12/16 | - | 8 |
1-32259362-C-A | c.2520G>T | p.T840= | Synonymous | 12/16 | - | 1 |
1-32259362-C-G | c.2520G>C | p.T840= | Synonymous | 12/16 | - | 1 |
1-32259362-C-T | c.2520G>A | p.T840= | Synonymous | 12/16 | - | 3 |
1-32259363-G-A | c.2519C>T | p.T840M | Missense | 12/16 | - | 1 |
1-32259366-G-A | c.2516C>T | p.P839L | Missense | 12/16 | - | 1 |
1-32259367-G-A | c.2515C>T | p.P839S | Missense | 12/16 | - | 3 |
1-32259372-A-T | c.2510T>A | p.L837* | Nonsense | 12/16 | - | 1 |
1-32259376-C-T | c.2506G>A | p.E836K | Missense | 12/16 | - | 2 |
1-32259377-C-T | c.2505G>A | p.R835= | Synonymous | 12/16 | - | 2 |
1-32259389-C-A | c.2493G>T | p.M831I | Missense | 12/16 | - | 3 |
1-32259389-C-G | c.2493G>C | p.M831I | Missense | 12/16 | - | 1 |
1-32259389-C-T | c.2493G>A | p.M831I | Missense | 12/16 | - | 1 |
1-32259394-C-A | c.2488G>T | p.E830* | Nonsense | 12/16 | - | 1 |
1-32259395-T-A | c.2487A>T | p.P829= | Synonymous | 12/16 | - | 1 |
1-32259395-T-C | c.2487A>G | p.P829= | Synonymous | 12/16 | - | 1 |
1-32259397-G-A | c.2485C>T | p.P829S | Missense | 12/16 | - | 2 |
1-32259408-G-A | c.2474C>T | p.P825L | Missense | 12/16 | - | 4 |
1-32259422-G-A | c.2460C>T | p.A820= | Synonymous | 12/16 | - | 1 |
1-32259422-G-C | c.2460C>G | p.A820= | Synonymous | 12/16 | - | 1 |
1-32259422-G-T | c.2460C>A | p.A820= | Synonymous | 12/16 | - | 2 |
1-32259423-G-A | c.2459C>T | p.A820V | Missense | 12/16 | - | 3 |
1-32259434-G-A | c.2448C>T | p.I816= | Synonymous | 12/16 | - | 1 |
1-32259438-T-C | c.2444A>G | p.N815S | Missense | 12/16 | - | 1 |
1-32259443-C-T | c.2439G>A | p.G813= | Synonymous | 12/16 | - | 2 |
1-32259445-C-A | c.2437G>T | p.G813W | Missense | 12/16 | - | 1 |
1-32259445-C-G | c.2437G>C | p.G813R | Missense | 12/16 | - | 2 |
1-32259445-C-T | c.2437G>A | p.G813R | Missense | 12/16 | - | 6 |
1-32259446-G-A | c.2436C>T | p.C812= | Synonymous | 12/16 | - | 2 |
1-32259447-C-T | c.2435G>A | p.C812Y | Missense | 12/16 | - | 1 |
1-32259457-C-T | c.2425G>A | p.A809T | Missense | 12/16 | - | 2 |
1-32259461-T-C | c.2421A>G | p.E807= | Synonymous | 12/16 | - | 1 |
1-32259463-C-T | c.2419G>A | p.E807K | Missense | 12/16 | - | 2 |
1-32259464-G-A | c.2418C>T | p.F806= | Synonymous | 12/16 | - | 2 |
1-32259468-G-A | c.2414C>T | p.S805F | Missense | 12/16 | - | 8 |
1-32259481-C-G | c.2401G>C | p.E801Q | Missense | 12/16 | - | 2 |
1-32259485-C-A | c.2397G>T | p.S799= | Synonymous | 12/16 | - | 1 |
1-32259485-C-G | c.2397G>C | p.S799= | Synonymous | 12/16 | - | 1 |
1-32259485-C-T | c.2397G>A | p.S799= | Synonymous | 12/16 | - | 3 |
1-32259486-G-A | c.2396C>T | p.S799L | Missense | 12/16 | - | 2 |
1-32259719-T-A | c.2383+6A>T | - | IntronicSNV | - | 11/15 | 1 |
1-32259726-C-G | c.2382G>C | p.K794N | Missense | 11/16 | - | 1 |
1-32259726-C-T | c.2382G>A | p.K794= | Synonymous | 11/16 | - | 1 |
1-32259727-T-A | c.2381A>T | p.K794M | Missense | 11/16 | - | 2 |
1-32259732-G-C | c.2376C>G | p.I792M | Missense | 11/16 | - | 1 |
1-32259738-G-A | c.2370C>T | p.C790= | Synonymous | 11/16 | - | 1 |
1-32259741-G-A | c.2367C>T | p.N789= | Synonymous | 11/16 | - | 1 |
1-32259745-G-T | c.2363C>A | p.P788H | Missense | 11/16 | - | 1 |
1-32259747-G-A | c.2361C>T | p.D787= | Synonymous | 11/16 | - | 1 |
1-32259753-G-C | c.2355C>G | p.F785L | Missense | 11/16 | - | 1 |
1-32259753-G-T | c.2355C>A | p.F785L | Missense | 11/16 | - | 1 |
1-32259755-A-G | c.2353T>C | p.F785L | Missense | 11/16 | - | 1 |
1-32259770-G-A | c.2338C>T | p.Q780* | Nonsense | 11/16 | - | 1 |
1-32259771-C-T | c.2337G>A | p.G779= | Synonymous | 11/16 | - | 2 |
1-32259773-C-T | c.2335G>A | p.G779R | Missense | 11/16 | - | 2 |
1-32259774-C-T | c.2334G>A | p.T778= | Synonymous | 11/16 | - | 1 |
1-32259775-G-A | c.2333C>T | p.T778M | Missense | 11/16 | - | 6 |
1-32259791-C-T | c.2317G>A | p.A773T | Missense | 11/16 | - | 5 |
1-32259792-G-A | c.2316C>T | p.I772= | Synonymous | 11/16 | - | 1 |
1-32259796-G-A | c.2312C>T | p.P771L | Missense | 11/16 | - | 1 |
1-32259811-C-T | c.2297G>A | p.S766N | Missense | 11/16 | - | 3 |
1-32259830-G-A | c.2278C>T | p.Q760* | Nonsense | 11/16 | - | 1 |
1-32259831-C-T | c.2277G>A | p.P759= | Synonymous | 11/16 | - | 2 |
1-32259832-G-A | c.2276C>T | p.P759L | Missense | 11/16 | - | 2 |
1-32259833-G-A | c.2275C>T | p.P759S | Missense | 11/16 | - | 1 |
1-32262191-C-T | c.2271G>A | p.V757= | Synonymous | 10/16 | - | 1 |
1-32262193-C-T | c.2269G>A | p.V757M | Missense | 10/16 | - | 2 |
1-32262195-A-G | c.2267T>C | p.L756P | Missense | 10/16 | - | 1 |
1-32262199-C-T | c.2263G>A | p.D755N | Missense | 10/16 | - | 1 |
1-32262201-T-C | c.2261A>G | p.E754G | Missense | 10/16 | - | 1 |
1-32262206-G-T | c.2256C>A | p.T752= | Synonymous | 10/16 | - | 1 |
1-32262211-GTGTC-G | c.2247_2250del | p.Q749Hfs*2 | Frameshift | 10/16 | - | 4 |
1-32262216-T-A | c.2246A>T | p.Q749L | Missense | 10/16 | - | 1 |
1-32262225-T-A | c.2237A>T | p.D746V | Missense | 10/16 | - | 4 |
1-32262226-C-T | c.2236G>A | p.D746N | Missense | 10/16 | - | 1 |
1-32262239-C-A | c.2223G>T | p.V741= | Synonymous | 10/16 | - | 3 |
1-32262239-CAC-GAT | c.2221_2223delinsATC | p.V741I | Missense | 10/16 | - | 1 |
1-32262239-C-G | c.2223G>C | p.V741= | Synonymous | 10/16 | - | 1 |
1-32262239-C-T | c.2223G>A | p.V741= | Synonymous | 10/16 | - | 1 |
1-32262245-G-A | c.2217C>T | p.G739= | Synonymous | 10/16 | - | 2 |
1-32262245-G-C | c.2217C>G | p.G739= | Synonymous | 10/16 | - | 1 |
1-32262245-G-T | c.2217C>A | p.G739= | Synonymous | 10/16 | - | 1 |
1-32262257-C-T | c.2205G>A | p.M735I | Missense | 10/16 | - | 1 |
1-32262259-T-G | c.2203A>C | p.M735L | Missense | 10/16 | - | 1 |
1-32262260-T-C | c.2202A>G | p.K734= | Synonymous | 10/16 | - | 1 |
1-32262262-T-A | c.2200A>T | p.K734* | Nonsense | 10/16 | - | 1 |
1-32262266-G-A | c.2196C>T | p.A732= | Synonymous | 10/16 | - | 2 |
1-32262268-C-T | c.2194G>A | p.A732T | Missense | 10/16 | - | 1 |
1-32262271-G-A | c.2191C>T | p.P731S | Missense | 10/16 | - | 2 |
1-32262281-C-T | c.2181G>A | p.P727= | Synonymous | 10/16 | - | 1 |
1-32262282-G-A | c.2180C>T | p.P727L | Missense | 10/16 | - | 1 |
1-32262286-C-A | c.2176G>T | p.E726* | Nonsense | 10/16 | - | 1 |
1-32262292-G-A | c.2170C>T | p.Q724* | Nonsense | 10/16 | - | 1 |
1-32262296-C-G | c.2166G>C | p.Q722H | Missense | 10/16 | - | 1 |
1-32262305-G-A | c.2157C>T | p.I719= | Synonymous | 10/16 | - | 3 |
1-32262305-G-T | c.2157C>A | p.I719= | Synonymous | 10/16 | - | 1 |
1-32262306-A-G | c.2156T>C | p.I719T | Missense | 10/16 | - | 2 |
1-32262312-A-G | c.2150T>C | p.L717P | Missense | 10/16 | - | 2 |
1-32262315-C-T | c.2147G>A | p.G716D | Missense | 10/16 | - | 3 |
1-32262316-C-T | c.2146G>A | p.G716S | Missense | 10/16 | - | 5 |
1-32263808-C-A | c.2145G>T | p.R715S | Missense | 9/16 | - | 1 |
1-32263808-C-G | c.2145G>C | p.R715S | Missense | 9/16 | - | 1 |
1-32263806-ACCCTTTTCTCCTCCTGGT-A | c.2129_2145+1del | - | SpliceDonorDeletion | 9/16 | - | 1 |
1-32263813-T-C | c.2140A>G | p.K714E | Missense | 9/16 | - | 1 |
1-32263816-C-T | c.2137G>A | p.E713K | Missense | 9/16 | - | 2 |
1-32263820-C-T | c.2133G>A | p.Q711= | Synonymous | 9/16 | - | 1 |
1-32263828-G-T | c.2125C>A | p.R709= | Synonymous | 9/16 | - | 1 |
1-32263830-C-A | c.2123G>T | p.W708L | Missense | 9/16 | - | 1 |
1-32263834-G-A | c.2119C>T | p.R707C | Missense | 9/16 | - | 3 |
1-32263835-G-A | c.2118C>T | p.A706= | Synonymous | 9/16 | - | 1 |
1-32263836-G-A | c.2117C>T | p.A706V | Missense | 9/16 | - | 1 |
1-32263837-C-A | c.2116G>T | p.A706S | Missense | 9/16 | - | 1 |
1-32263840-G-C | c.2113C>G | p.L705V | Missense | 9/16 | - | 1 |
1-32263844-C-CG | c.2108_2109insC | p.Q703Hfs*19 | Frameshift | 9/16 | - | 1 |
1-32263844-C-T | c.2109G>A | p.Q703= | Synonymous | 9/16 | - | 1 |
1-32263846-G-A | c.2107C>T | p.Q703* | Nonsense | 9/16 | - | 4 |
1-32263848-G-A | c.2105C>T | p.P702L | Missense | 9/16 | - | 1 |
1-32263851-G-T | c.2102C>A | p.A701D | Missense | 9/16 | - | 1 |
1-32263853-CAGCTGCATCG-C | c.2090_2099del | p.S697Wfs*18 | Frameshift | 9/16 | - | 1 |
1-32263859-C-T | c.2094G>A | p.M698I | Missense | 9/16 | - | 1 |
1-32263862-C-A | c.2091G>T | p.S697= | Synonymous | 9/16 | - | 1 |
1-32263862-C-G | c.2091G>C | p.S697= | Synonymous | 9/16 | - | 1 |
1-32263862-C-T | c.2091G>A | p.S697= | Synonymous | 9/16 | - | 2 |
1-32263863-G-C | c.2090C>G | p.S697W | Missense | 9/16 | - | 1 |
1-32263869-A-C | c.2084T>G | p.M695R | Missense | 9/16 | - | 3 |
1-32263879-G-T | c.2074C>A | p.L692M | Missense | 9/16 | - | 3 |
1-32263882-C-T | c.2071G>A | p.D691N | Missense | 9/16 | - | 6 |
1-32263883-G-A | c.2070C>T | p.Y690= | Synonymous | 9/16 | - | 1 |
1-32263887-G-T | c.2066C>A | p.P689H | Missense | 9/16 | - | 1 |
1-32263885-AG-A | c.2067del | p.Y690Tfs*6 | Frameshift | 9/16 | - | 1 |
1-32263903-G-A | c.2050C>T | p.H684Y | Missense | 9/16 | - | 1 |
1-32264044-A-G | c.2027T>C | p.L676P | Missense | 8/16 | - | 1 |
1-32264045-G-A | c.2026C>T | p.L676= | Synonymous | 8/16 | - | 1 |
1-32264049-C-T | c.2022G>A | p.R674= | Synonymous | 8/16 | - | 3 |
1-32264050-C-T | c.2021G>A | p.R674K | Missense | 8/16 | - | 5 |
1-32264052-G-A | c.2019C>T | p.P673= | Synonymous | 8/16 | - | 4 |
1-32264053-G-T | c.2018C>A | p.P673H | Missense | 8/16 | - | 1 |
1-32264057-C-T | c.2014G>A | p.D672N | Missense | 8/16 | - | 5 |
1-32264059-C-T | c.2012G>A | p.R671Q | Missense | 8/16 | - | 2 |
1-32264060-G-A | c.2011C>T | p.R671W | Missense | 8/16 | - | 5 |
1-32264065-T-C | c.2006A>G | p.N669S | Missense | 8/16 | - | 1 |
1-32264081-G-A | c.1990C>T | p.R664C | Missense | 8/16 | - | 5 |
1-32264083-T-C | c.1988A>G | p.Y663C | Missense | 8/16 | - | 1 |
1-32264087-T-C | c.1984A>G | p.K662E | Missense | 8/16 | - | 1 |
1-32264091-C-T | c.1980G>A | p.K660= | Synonymous | 8/16 | - | 1 |
1-32264099-G-A | c.1972C>T | p.R658W | Missense | 8/16 | - | 2 |
1-32264101-C-G | c.1970G>C | p.G657A | Missense | 8/16 | - | 1 |
1-32264102-C-A | c.1969G>T | p.G657C | Missense | 8/16 | - | 1 |
1-32264102-C-T | c.1969G>A | p.G657S | Missense | 8/16 | - | 1 |
1-32264106-GG-CA | c.1964_1965delinsTG | p.T655M | Missense | 8/16 | - | 1 |
1-32264124-C-A | c.1947G>T | p.W649C | Missense | 8/16 | - | 1 |
1-32264124-C-G | c.1947G>C | p.W649C | Missense | 8/16 | - | 1 |
1-32264124-C-T | c.1947G>A | p.W649* | Nonsense | 8/16 | - | 1 |
1-32264125-C-T | c.1946G>A | p.W649* | Nonsense | 8/16 | - | 1 |
1-32264127-G-A | c.1944C>T | p.L648= | Synonymous | 8/16 | - | 1 |
1-32264127-G-C | c.1944C>G | p.L648= | Synonymous | 8/16 | - | 1 |
1-32264127-G-T | c.1944C>A | p.L648= | Synonymous | 8/16 | - | 2 |
1-32264129-G-C | c.1942C>G | p.L648V | Missense | 8/16 | - | 1 |
1-32264135-C-T | c.1936G>A | p.A646T | Missense | 8/16 | - | 1 |
1-32264158-T-A | c.1913A>T | p.E638V | Missense | 8/16 | - | 1 |
1-32264163-CAC-GAT | c.1906_1908delinsATC | p.V636I | Missense | 8/16 | - | 1 |
1-32264175-C-A | c.1896G>T | p.L632= | Synonymous | 8/16 | - | 2 |
1-32264175-C-G | c.1896G>C | p.L632= | Synonymous | 8/16 | - | 2 |
1-32264175-C-T | c.1896G>A | p.L632= | Synonymous | 8/16 | - | 2 |
1-32264177-G-A | c.1894C>T | p.L632= | Synonymous | 8/16 | - | 2 |
1-32264178-C-G | c.1893G>C | p.V631= | Synonymous | 8/16 | - | 1 |
1-32264183-G-A | c.1888C>T | p.P630S | Missense | 8/16 | - | 1 |
1-32264191-A-C | c.1880T>G | p.L627R | Missense | 8/16 | - | 3 |
1-32264196-C-A | c.1875G>T | p.R625= | Synonymous | 8/16 | - | 1 |
1-32264196-C-G | c.1875G>C | p.R625= | Synonymous | 8/16 | - | 1 |
1-32264196-C-T | c.1875G>A | p.R625= | Synonymous | 8/16 | - | 1 |
1-32264198-G-A | c.1873C>T | p.R625W | Missense | 8/16 | - | 1 |
1-32264198-G-T | c.1873C>A | p.R625= | Synonymous | 8/16 | - | 1 |
1-32264201-G-A | c.1870C>T | p.L624F | Missense | 8/16 | - | 1 |
1-32264995-G-A | c.1868+7C>T | - | IntronicSNV | - | 7/15 | 1 |
1-32265002-C-T | c.1868G>A | p.R623H | Missense | 7/16 | - | 1 |
1-32265012-G-A | c.1858C>T | p.L620= | Synonymous | 7/16 | - | 1 |
1-32265012-G-T | c.1858C>A | p.L620I | Missense | 7/16 | - | 1 |
1-32265013-T-C | c.1857A>G | p.V619= | Synonymous | 7/16 | - | 2 |
1-32265019-C-A | c.1851G>T | p.Q617H | Missense | 7/16 | - | 1 |
1-32265019-C-G | c.1851G>C | p.Q617H | Missense | 7/16 | - | 1 |
1-32265021-G-T | c.1849C>A | p.Q617K | Missense | 7/16 | - | 1 |
1-32265028-A-G | c.1842T>C | p.R614= | Synonymous | 7/16 | - | 4 |
1-32265030-G-A | c.1840C>T | p.R614C | Missense | 7/16 | - | 1 |
1-32265031-G-A | c.1839C>T | p.V613= | Synonymous | 7/16 | - | 1 |
1-32265031-G-C | c.1839C>G | p.V613= | Synonymous | 7/16 | - | 1 |
1-32265031-G-T | c.1839C>A | p.V613= | Synonymous | 7/16 | - | 1 |
1-32265036-C-T | c.1834G>A | p.V612I | Missense | 7/16 | - | 1 |
1-32265041-C-A | c.1829G>T | p.G610V | Missense | 7/16 | - | 2 |
1-32265041-C-T | c.1829G>A | p.G610D | Missense | 7/16 | - | 1 |
1-32265045-G-A | c.1825C>T | p.R609W | Missense | 7/16 | - | 5 |
1-32265054-T-C | c.1816A>G | p.I606V | Missense | 7/16 | - | 1 |
1-32265058-C-A | c.1812G>T | p.L604= | Synonymous | 7/16 | - | 1 |
1-32265058-CAG-AAA | c.1810_1812delinsTTT | p.L604F | Missense | 7/16 | - | 2 |
1-32265058-C-G | c.1812G>C | p.L604= | Synonymous | 7/16 | - | 1 |
1-32265058-C-T | c.1812G>A | p.L604= | Synonymous | 7/16 | - | 1 |
1-32265060-G-A | c.1810C>T | p.L604= | Synonymous | 7/16 | - | 1 |
1-32265061-G-A | c.1809C>T | p.S603= | Synonymous | 7/16 | - | 1 |
1-32265062-G-T | c.1808C>A | p.S603Y | Missense | 7/16 | - | 2 |
1-32265064-T-A | c.1806A>T | p.P602= | Synonymous | 7/16 | - | 1 |
1-32265064-T-C | c.1806A>G | p.P602= | Synonymous | 7/16 | - | 1 |
1-32265064-T-G | c.1806A>C | p.P602= | Synonymous | 7/16 | - | 1 |
1-32265070-C-A | c.1800G>T | p.E600D | Missense | 7/16 | - | 1 |
1-32265075-G-A | c.1795C>T | p.Q599* | Nonsense | 7/16 | - | 1 |
1-32265075-G-GT | c.1794dup | p.Q599Tfs*36 | Frameshift | 7/16 | - | 1 |
1-32265419-C-G | c.1774G>C | p.E592Q | Missense | 6/16 | - | 1 |
1-32265425-G-A | c.1768C>T | p.Q590* | Nonsense | 6/16 | - | 1 |
1-32265425-G-T | c.1768C>A | p.Q590K | Missense | 6/16 | - | 1 |
1-32265440-C-T | c.1753G>A | p.D585N | Missense | 6/16 | - | 1 |
1-32265443-C-G | c.1750G>C | p.E584Q | Missense | 6/16 | - | 1 |
1-32265448-G-A | c.1745C>T | p.A582V | Missense | 6/16 | - | 1 |
1-32265452-C-T | c.1741G>A | p.E581K | Missense | 6/16 | - | 1 |
1-32265458-G-C | c.1735C>G | p.P579A | Missense | 6/16 | - | 5 |
1-32265458-G-T | c.1735C>A | p.P579T | Missense | 6/16 | - | 1 |
1-32265460-C-T | c.1733G>A | p.G578D | Missense | 6/16 | - | 2 |
1-32265463-CT-AG | c.1729_1730inv | p.S577L | Missense | 6/16 | - | 1 |
1-32265621-G-A | c.1724C>T | p.S575F | Missense | 5/16 | - | 2 |
1-32265624-C-A | c.1721G>T | p.C574F | Missense | 5/16 | - | 1 |
1-32265624-CA-GT | c.1720_1721delinsAC | p.C574T | Missense | 5/16 | - | 1 |
1-32265624-C-T | c.1721G>A | p.C574Y | Missense | 5/16 | - | 1 |
1-32265630-G-A | c.1715C>T | p.P572L | Missense | 5/16 | - | 1 |
1-32265632-G-A | c.1713C>T | p.D571= | Synonymous | 5/16 | - | 1 |
1-32265634-C-CA | c.1710_1711insT | p.D571* | Nonsense | 5/16 | - | 1 |
1-32265635-C-A | c.1710G>T | p.S570= | Synonymous | 5/16 | - | 1 |
1-32265635-C-G | c.1710G>C | p.S570= | Synonymous | 5/16 | - | 1 |
1-32265635-C-T | c.1710G>A | p.S570= | Synonymous | 5/16 | - | 2 |
1-32265636-G-A | c.1709C>T | p.S570L | Missense | 5/16 | - | 1 |
1-32265646-C-T | c.1699G>A | p.D567N | Missense | 5/16 | - | 2 |
1-32265647-G-A | c.1698C>T | p.G566= | Synonymous | 5/16 | - | 1 |
1-32265647-G-C | c.1698C>G | p.G566= | Synonymous | 5/16 | - | 1 |
1-32265647-G-T | c.1698C>A | p.G566= | Synonymous | 5/16 | - | 1 |
1-32265652-G-A | c.1693C>T | p.L565F | Missense | 5/16 | - | 1 |
1-32265660-G-A | c.1685C>T | p.S562F | Missense | 5/16 | - | 5 |
1-32265665-G-A | c.1680C>T | p.S560= | Synonymous | 5/16 | - | 2 |
1-32265669-C-A | c.1676G>T | p.R559I | Missense | 5/16 | - | 1 |
1-32265670-T-A | c.1675A>T | p.R559* | Nonsense | 5/16 | - | 1 |
1-32265673-G-A | c.1672C>T | p.P558S | Missense | 5/16 | - | 5 |
1-32265675-G-A | c.1670C>T | p.P557L | Missense | 5/16 | - | 1 |
1-32265684-G-A | c.1661C>T | p.P554L | Missense | 5/16 | - | 2 |
1-32265698-A-G | c.1647T>C | p.G549= | Synonymous | 5/16 | - | 1 |
1-32265700-C-T | c.1645G>A | p.G549S | Missense | 5/16 | - | 2 |
1-32265703-G-A | c.1642C>T | p.P548S | Missense | 5/16 | - | 1 |
1-32265704-G-A | c.1641C>T | p.D547= | Synonymous | 5/16 | - | 1 |
1-32265706-C-T | c.1639G>A | p.D547N | Missense | 5/16 | - | 1 |
1-32265708-C-T | c.1637G>A | p.G546E | Missense | 5/16 | - | 1 |
1-32265709-C-G | c.1636G>C | p.G546R | Missense | 5/16 | - | 2 |
1-32265709-C-T | c.1636G>A | p.G546R | Missense | 5/16 | - | 2 |
1-32265720-C-T | c.1625G>A | p.G542E | Missense | 5/16 | - | 1 |
1-32265727-G-A | c.1618C>T | p.P540S | Missense | 5/16 | - | 5 |
1-32265742-C-T | c.1603G>A | p.V535I | Missense | 5/16 | - | 5 |
1-32266026-A-G | c.1602+16T>C | - | IntronicSNV | - | 4/15 | 1 |
1-32266056-G-A | c.1588C>T | p.P530S | Missense | 4/16 | - | 1 |
1-32266058-C-A | c.1586G>T | p.G529V | Missense | 4/16 | - | 1 |
1-32266070-G-A | c.1574C>T | p.P525L | Missense | 4/16 | - | 1 |
1-32266072-CCT-ATG | c.1570_1572delinsCAT | p.R524H | Missense | 4/16 | - | 1 |
1-32266081-C-T | c.1563G>A | p.R521= | Synonymous | 4/16 | - | 4 |
1-32266083-T-A | c.1561A>T | p.R521W | Missense | 4/16 | - | 1 |
1-32266085-C-T | c.1559G>A | p.R520K | Missense | 4/16 | - | 2 |
1-32266088-A-G | c.1556T>C | p.L519P | Missense | 4/16 | - | 1 |
1-32266091-C-T | c.1553G>A | p.R518K | Missense | 4/16 | - | 1 |
1-32266092-T-C | c.1552A>G | p.R518G | Missense | 4/16 | - | 2 |
1-32266112-CT-AG | c.1531_1532inv | p.S511L | Missense | 4/16 | - | 1 |
1-32266115-A-T | c.1529T>A | p.V510D | Missense | 4/16 | - | 2 |
1-32266120-C-A | c.1524G>T | p.M508I | Missense | 4/16 | - | 1 |
1-32266120-C-G | c.1524G>C | p.M508I | Missense | 4/16 | - | 1 |
1-32266120-C-T | c.1524G>A | p.M508I | Missense | 4/16 | - | 1 |
1-32266122-T-A | c.1522A>T | p.M508L | Missense | 4/16 | - | 1 |
1-32266122-T-G | c.1522A>C | p.M508L | Missense | 4/16 | - | 1 |
1-32266144-C-T | c.1500G>A | p.K500= | Synonymous | 4/16 | - | 2 |
1-32266149-G-C | c.1495C>G | p.P499A | Missense | 4/16 | - | 2 |
1-32266152-G-A | c.1492C>T | p.P498S | Missense | 4/16 | - | 1 |
1-32266158-TG-T | c.1486del | p.Q496Sfs*9 | Frameshift | 4/16 | - | 2 |
1-32266160-C-T | c.1484G>A | p.G495E | Missense | 4/16 | - | 1 |
1-32266161-C-G | c.1483G>C | p.G495R | Missense | 4/16 | - | 1 |
1-32266161-C-T | c.1483G>A | p.G495R | Missense | 4/16 | - | 1 |
1-32266172-C-T | c.1472G>A | p.G491D | Missense | 4/16 | - | 1 |
1-32266178-CT-GG | c.1465_1466delinsCC | p.S489P | Missense | 4/16 | - | 1 |
1-32266180-G-A | c.1464C>T | p.I488= | Synonymous | 4/16 | - | 1 |
1-32266180-G-T | c.1464C>A | p.I488= | Synonymous | 4/16 | - | 1 |
1-32266183-G-A | c.1461C>T | p.A487= | Synonymous | 4/16 | - | 1 |
1-32266183-G-C | c.1461C>G | p.A487= | Synonymous | 4/16 | - | 1 |
1-32266183-G-T | c.1461C>A | p.A487= | Synonymous | 4/16 | - | 2 |
1-32266182-TG-T | c.1461del | p.I488Sfs*17 | Frameshift | 4/16 | - | 1 |
1-32266185-C-T | c.1459G>A | p.A487T | Missense | 4/16 | - | 2 |
1-32266186-C-A | c.1458G>T | p.G486= | Synonymous | 4/16 | - | 1 |
1-32266186-C-G | c.1458G>C | p.G486= | Synonymous | 4/16 | - | 1 |
1-32266186-C-T | c.1458G>A | p.G486= | Synonymous | 4/16 | - | 4 |
1-32266187-C-G | c.1457G>C | p.G486A | Missense | 4/16 | - | 1 |
1-32266187-C-T | c.1457G>A | p.G486E | Missense | 4/16 | - | 1 |
1-32266192-G-A | c.1452C>T | p.L484= | Synonymous | 4/16 | - | 1 |
1-32266193-A-G | c.1451T>C | p.L484P | Missense | 4/16 | - | 1 |
1-32266210-G-A | c.1434C>T | p.S478= | Synonymous | 4/16 | - | 2 |
1-32266210-G-C | c.1434C>G | p.S478= | Synonymous | 4/16 | - | 1 |
1-32266210-G-T | c.1434C>A | p.S478= | Synonymous | 4/16 | - | 1 |
1-32267264-C-T | c.1425+1G>A | - | IntronicSNV | - | 3/15 | 1 |
1-32267265-G-A | c.1425C>T | p.Y475= | Synonymous | 3/16 | - | 1 |
1-32267266-T-C | c.1424A>G | p.Y475C | Missense | 3/16 | - | 3 |
1-32267280-CAC-GAT | c.1408_1410delinsATC | p.V470I | Missense | 3/16 | - | 1 |
1-32267284-C-G | c.1406G>C | p.G469A | Missense | 3/16 | - | 1 |
1-32267288-G-T | c.1402C>A | p.H468N | Missense | 3/16 | - | 1 |
1-32267298-C-A | c.1392G>T | p.V464= | Synonymous | 3/16 | - | 1 |
1-32267298-C-G | c.1392G>C | p.V464= | Synonymous | 3/16 | - | 1 |
1-32267298-C-T | c.1392G>A | p.V464= | Synonymous | 3/16 | - | 2 |
1-32267300-C-T | c.1390G>A | p.V464M | Missense | 3/16 | - | 1 |
1-32267303-C-T | c.1387G>A | p.E463K | Missense | 3/16 | - | 1 |
1-32267306-C-T | c.1384G>A | p.E462K | Missense | 3/16 | - | 3 |
1-32278210-C-T | c.1383+1342G>A | - | IntronicSNV | - | 2/15 | 1 |
1-32279559-G-C | c.1376C>G | p.P459R | Missense | 2/16 | - | 1 |
1-32279561-G-A | c.1374C>T | p.C458= | Synonymous | 2/16 | - | 1 |
1-32279573-G-A | c.1362C>T | p.S454= | Synonymous | 2/16 | - | 2 |
1-32279574-C-A | c.1361G>T | p.S454I | Missense | 2/16 | - | 7 |
1-32279574-C-G | c.1361G>C | p.S454T | Missense | 2/16 | - | 1 |
1-32279579-T-C | c.1356A>G | p.E452= | Synonymous | 2/16 | - | 1 |
1-32279584-C-G | c.1351G>C | p.E451Q | Missense | 2/16 | - | 1 |
1-32279589-C-T | c.1346G>A | p.R449K | Missense | 2/16 | - | 4 |
1-32279600-G-A | c.1335C>T | p.S445= | Synonymous | 2/16 | - | 4 |
1-32279601-G-A | c.1334C>T | p.S445F | Missense | 2/16 | - | 2 |
1-32279606-G-C | c.1329C>G | p.D443E | Missense | 2/16 | - | 1 |
1-32279606-G-T | c.1329C>A | p.D443E | Missense | 2/16 | - | 2 |
1-32279607-T-C | c.1328A>G | p.D443G | Missense | 2/16 | - | 1 |
1-32279608-C-G | c.1327G>C | p.D443H | Missense | 2/16 | - | 3 |
1-32279614-T-C | c.1321A>G | p.S441G | Missense | 2/16 | - | 1 |
1-32279616-C-T | c.1319G>A | p.R440K | Missense | 2/16 | - | 5 |
1-32279617-T-A | c.1318A>T | p.R440* | Nonsense | 2/16 | - | 1 |
1-32279626-C-CCAAGA | c.1308_1309insTCTTG | p.G437Sfs*30 | Frameshift | 2/16 | - | 1 |
1-32279627-C-A | c.1308G>T | p.R436= | Synonymous | 2/16 | - | 1 |
1-32279627-C-G | c.1308G>C | p.R436= | Synonymous | 2/16 | - | 1 |
1-32279627-C-T | c.1308G>A | p.R436= | Synonymous | 2/16 | - | 1 |
1-32279629-G-A | c.1306C>T | p.R436W | Missense | 2/16 | - | 23 |
1-32279629-G-T | c.1306C>A | p.R436= | Synonymous | 2/16 | - | 1 |
1-32279636-G-A | c.1299C>T | p.A433= | Synonymous | 2/16 | - | 1 |
1-32279642-G-A | c.1293C>T | p.P431= | Synonymous | 2/16 | - | 2 |
1-32279645-C-A | c.1290G>T | p.V430= | Synonymous | 2/16 | - | 1 |
1-32279659-T-A | c.1276A>T | p.K426* | Nonsense | 2/16 | - | 1 |
1-32279659-TTC-T | c.1275_1276del | p.K426Efs*127 | Frameshift | 2/16 | - | 1 |
1-32279661-AG-GA | c.1273_1274delinsTC | p.L425S | Missense | 2/16 | - | 1 |
1-32279662-G-A | c.1273C>T | p.L425= | Synonymous | 2/16 | - | 1 |
1-32279666-C-A | c.1269G>T | p.K423N | Missense | 2/16 | - | 1 |
1-32279666-C-G | c.1269G>C | p.K423N | Missense | 2/16 | - | 1 |
1-32279666-C-T | c.1269G>A | p.K423= | Synonymous | 2/16 | - | 1 |
1-32279670-G-A | c.1265C>T | p.T422I | Missense | 2/16 | - | 1 |
1-32279672-G-A | c.1263C>T | p.G421= | Synonymous | 2/16 | - | 1 |
1-32279672-G-C | c.1263C>G | p.G421= | Synonymous | 2/16 | - | 1 |
1-32279672-G-T | c.1263C>A | p.G421= | Synonymous | 2/16 | - | 1 |
1-32279674-C-G | c.1261G>C | p.G421R | Missense | 2/16 | - | 1 |
1-32279675-C-T | c.1260G>A | p.K420= | Synonymous | 2/16 | - | 1 |
1-32279681-T-C | c.1254A>G | p.R418= | Synonymous | 2/16 | - | 1 |
1-32279683-T-G | c.1252A>C | p.R418= | Synonymous | 2/16 | - | 1 |
1-32279682-C-G | c.1253G>C | p.R418T | Missense | 2/16 | - | 4 |
1-32279692-C-A | c.1243G>T | p.E415* | Nonsense | 2/16 | - | 1 |
1-32279698-A-C | c.1237T>G | p.F413V | Missense | 2/16 | - | 1 |
1-32279700-G-A | c.1235C>T | p.P412L | Missense | 2/16 | - | 2 |
1-32279703-C-T | c.1232G>A | p.G411D | Missense | 2/16 | - | 1 |
1-32279706-G-A | c.1229C>T | p.S410L | Missense | 2/16 | - | 8 |
1-32279709-CA-GT | c.1225_1226delinsAC | p.C409T | Missense | 2/16 | - | 1 |
1-32279711-G-C | c.1224C>G | p.A408= | Synonymous | 2/16 | - | 1 |
1-32279714-CCT-ACA | c.1219_1221delinsTGT | p.R407C | Missense | 2/16 | - | 2 |
1-32279724-T-G | c.1211A>C | p.E404A | Missense | 2/16 | - | 1 |
1-32279730-T-A | c.1205A>T | p.D402V | Missense | 2/16 | - | 1 |
1-32279733-AG-A | c.1201del | p.L401Wfs*25 | Frameshift | 2/16 | - | 1 |
1-32279736-G-A | c.1199C>T | p.S400F | Missense | 2/16 | - | 2 |
1-32279739-G-A | c.1196C>T | p.S399F | Missense | 2/16 | - | 5 |
1-32279763-C-T | c.1172G>A | p.R391Q | Missense | 2/16 | - | 3 |
1-32279765-G-A | c.1170C>T | p.S390= | Synonymous | 2/16 | - | 1 |
1-32279765-G-C | c.1170C>G | p.S390= | Synonymous | 2/16 | - | 1 |
1-32279765-G-T | c.1170C>A | p.S390= | Synonymous | 2/16 | - | 1 |
1-32279766-GA-AG | c.1168_1169delinsCT | p.S390L | Missense | 2/16 | - | 1 |
1-32279768-G-C | c.1167C>G | p.S389R | Missense | 2/16 | - | 2 |
1-32279768-G-T | c.1167C>A | p.S389R | Missense | 2/16 | - | 2 |
1-32279770-T-G | c.1165A>C | p.S389R | Missense | 2/16 | - | 2 |
1-32279769-CT-AG | c.1165_1166inv | p.S389L | Missense | 2/16 | - | 1 |
1-32279772-G-A | c.1163C>T | p.A388V | Missense | 2/16 | - | 3 |
1-32279773-C-A | c.1162G>T | p.A388S | Missense | 2/16 | - | 1 |
1-32279775-C-T | c.1160G>A | p.C387Y | Missense | 2/16 | - | 1 |
1-32279777-GG-CC | c.1157_1158inv | p.T386R | Missense | 2/16 | - | 1 |
1-32279779-T-C | c.1156A>G | p.T386A | Missense | 2/16 | - | 1 |
1-32279785-C-A | c.1150G>T | p.A384S | Missense | 2/16 | - | 1 |
1-32279790-G-T | c.1145C>A | p.A382D | Missense | 2/16 | - | 1 |
1-32279793-G-C | c.1142C>G | p.A381G | Missense | 2/16 | - | 1 |
1-32279794-C-T | c.1141G>A | p.A381T | Missense | 2/16 | - | 1 |
1-32279798-T-A | c.1137A>T | p.G379= | Synonymous | 2/16 | - | 1 |
1-32279798-T-C | c.1137A>G | p.G379= | Synonymous | 2/16 | - | 2 |
1-32279798-T-G | c.1137A>C | p.G379= | Synonymous | 2/16 | - | 1 |
1-32279799-C-CG | c.1135_1136insC | p.G379Afs*7 | Frameshift | 2/16 | - | 1 |
1-32279800-C-T | c.1135G>A | p.G379R | Missense | 2/16 | - | 5 |
1-32279802-T-C | c.1133A>G | p.Q378R | Missense | 2/16 | - | 1 |
1-32279806-C-G | c.1129G>C | p.E377Q | Missense | 2/16 | - | 2 |
1-32279814-C-T | c.1121G>A | p.G374E | Missense | 2/16 | - | 1 |
1-32279818-T-G | c.1117A>C | p.R373= | Synonymous | 2/16 | - | 1 |
1-32279820-G-A | c.1115C>T | p.S372F | Missense | 2/16 | - | 2 |
1-32279824-C-T | c.1111G>A | p.A371T | Missense | 2/16 | - | 1 |
1-32279827-G-A | c.1108C>T | p.P370S | Missense | 2/16 | - | 2 |
1-32279837-G-C | c.1098C>G | p.A366= | Synonymous | 2/16 | - | 1 |
1-32279845-G-T | c.1090C>A | p.L364M | Missense | 2/16 | - | 2 |
1-32279848-C-T | c.1087G>A | p.E363K | Missense | 2/16 | - | 1 |
1-32279851-C-T | c.1084G>A | p.E362K | Missense | 2/16 | - | 2 |
1-32279859-T-C | c.1076A>G | p.Q359R | Missense | 2/16 | - | 1 |
1-32279859-TG-GC | c.1075_1076delinsGC | p.Q359A | Missense | 2/16 | - | 1 |
1-32279863-C-A | c.1072G>T | p.A358S | Missense | 2/16 | - | 1 |
1-32279865-G-A | c.1070C>T | p.P357L | Missense | 2/16 | - | 2 |
1-32279866-G-A | c.1069C>T | p.P357S | Missense | 2/16 | - | 1 |
1-32279871-T-C | c.1064A>G | p.Q355R | Missense | 2/16 | - | 2 |
1-32279877-T-C | c.1058A>G | p.E353G | Missense | 2/16 | - | 1 |
1-32279881-C-T | c.1054G>A | p.D352N | Missense | 2/16 | - | 3 |
1-32279883-C-T | c.1052G>A | p.S351N | Missense | 2/16 | - | 1 |
1-32279890-T-C | c.1045A>G | p.T349A | Missense | 2/16 | - | 2 |
1-32279890-T-G | c.1045A>C | p.T349P | Missense | 2/16 | - | 1 |
1-32279891-C-A | c.1044G>T | p.R348= | Synonymous | 2/16 | - | 1 |
1-32279891-CCG-ACA | c.1042_1044delinsTGT | p.R348C | Missense | 2/16 | - | 1 |
1-32279891-C-T | c.1044G>A | p.R348= | Synonymous | 2/16 | - | 4 |
1-32279891-CCGCA-C | c.1040_1043del | p.V347Gfs*78 | Frameshift | 2/16 | - | 1 |
1-32279905-C-A | c.1030G>T | p.V344L | Missense | 2/16 | - | 1 |
1-32279905-C-G | c.1030G>C | p.V344L | Missense | 2/16 | - | 1 |
1-32279907-G-A | c.1028C>T | p.A343V | Missense | 2/16 | - | 2 |
1-32279907-G-T | c.1028C>A | p.A343D | Missense | 2/16 | - | 1 |
1-32279908-C-T | c.1027G>A | p.A343T | Missense | 2/16 | - | 2 |
1-32279914-G-A | c.1021C>T | p.Q341* | Nonsense | 2/16 | - | 1 |
1-32279920-C-A | c.1015G>T | p.E339* | Nonsense | 2/16 | - | 1 |
1-32279929-C-T | c.1006G>A | p.A336T | Missense | 2/16 | - | 2 |
1-32279930-C-A | c.1005G>T | p.Q335H | Missense | 2/16 | - | 2 |
1-32279930-C-G | c.1005G>C | p.Q335H | Missense | 2/16 | - | 2 |
1-32279932-G-A | c.1003C>T | p.Q335* | Nonsense | 2/16 | - | 1 |
1-32279934-G-A | c.1001C>T | p.A334V | Missense | 2/16 | - | 2 |
1-32279937-G-A | c.998C>T | p.S333L | Missense | 2/16 | - | 1 |
1-32279942-C-T | c.993G>A | p.G331= | Synonymous | 2/16 | - | 1 |
1-32279944-C-T | c.991G>A | p.G331R | Missense | 2/16 | - | 2 |
1-32279940-G-GC | c.994dup | p.A332Gfs*22 | Frameshift | 2/16 | - | 1 |
1-32279948-G-A | c.987C>T | p.C329= | Synonymous | 2/16 | - | 1 |
1-32279949-C-T | c.986G>A | p.C329Y | Missense | 2/16 | - | 1 |
1-32279954-T-A | c.981A>T | p.A327= | Synonymous | 2/16 | - | 1 |
1-32279960-G-A | c.975C>T | p.S325= | Synonymous | 2/16 | - | 1 |
1-32279960-G-T | c.975C>A | p.S325R | Missense | 2/16 | - | 1 |
1-32279962-T-A | c.973A>T | p.S325C | Missense | 2/16 | - | 1 |
1-32279967-G-T | c.968C>A | p.P323Q | Missense | 2/16 | - | 1 |
1-32279974-C-A | c.961G>T | p.A321S | Missense | 2/16 | - | 1 |
1-32279974-C-T | c.961G>A | p.A321T | Missense | 2/16 | - | 1 |
1-32279975-C-A | c.960G>T | p.Q320H | Missense | 2/16 | - | 1 |
1-32279975-C-T | c.960G>A | p.Q320= | Synonymous | 2/16 | - | 1 |
1-32279985-G-A | c.950C>T | p.S317L | Missense | 2/16 | - | 1 |
1-32279987-ACT-TCA | c.946_948delinsTGA | p.S316* | Nonsense | 2/16 | - | 1 |
1-32279990-G-A | c.945C>T | p.L315= | Synonymous | 2/16 | - | 4 |
1-32279993-G-A | c.942C>T | p.S314= | Synonymous | 2/16 | - | 5 |
1-32279999-C-A | c.936G>T | p.G312= | Synonymous | 2/16 | - | 1 |
1-32279999-C-G | c.936G>C | p.G312= | Synonymous | 2/16 | - | 1 |
1-32279999-C-T | c.936G>A | p.G312= | Synonymous | 2/16 | - | 1 |
1-32280000-C-T | c.935G>A | p.G312E | Missense | 2/16 | - | 1 |
1-32280006-C-T | c.929G>A | p.S310N | Missense | 2/16 | - | 1 |
1-32280015-G-T | c.920C>A | p.P307Q | Missense | 2/16 | - | 1 |
1-32280022-C-A | c.913G>T | p.G305W | Missense | 2/16 | - | 1 |
1-32280022-C-T | c.913G>A | p.G305R | Missense | 2/16 | - | 1 |
1-32280023-G-A | c.912C>T | p.V304= | Synonymous | 2/16 | - | 1 |
1-32280031-C-T | c.904G>A | p.G302S | Missense | 2/16 | - | 1 |
1-32280035-G-A | c.900C>T | p.P300= | Synonymous | 2/16 | - | 2 |
1-32280035-G-C | c.900C>G | p.P300= | Synonymous | 2/16 | - | 1 |
1-32280035-G-T | c.900C>A | p.P300= | Synonymous | 2/16 | - | 1 |
1-32280036-G-C | c.899C>G | p.P300R | Missense | 2/16 | - | 1 |
1-32280037-G-A | c.898C>T | p.P300S | Missense | 2/16 | - | 1 |
1-32280039-C-A | c.896G>T | p.S299I | Missense | 2/16 | - | 1 |
1-32280041-G-A | c.894C>T | p.G298= | Synonymous | 2/16 | - | 1 |
1-32280041-G-C | c.894C>G | p.G298= | Synonymous | 2/16 | - | 1 |
1-32280041-G-T | c.894C>A | p.G298= | Synonymous | 2/16 | - | 1 |
1-32280043-C-T | c.892G>A | p.G298S | Missense | 2/16 | - | 1 |
1-32280045-G-T | c.890C>A | p.P297Q | Missense | 2/16 | - | 1 |
1-32280050-G-A | c.885C>T | p.P295= | Synonymous | 2/16 | - | 1 |
1-32280050-G-C | c.885C>G | p.P295= | Synonymous | 2/16 | - | 1 |
1-32280050-G-T | c.885C>A | p.P295= | Synonymous | 2/16 | - | 1 |
1-32280054-C-A | c.881G>T | p.G294V | Missense | 2/16 | - | 1 |
1-32280058-C-T | c.877G>A | p.D293N | Missense | 2/16 | - | 5 |
1-32280060-C-T | c.875G>A | p.G292E | Missense | 2/16 | - | 5 |
1-32280061-C-G | c.874G>C | p.G292R | Missense | 2/16 | - | 1 |
1-32280061-C-T | c.874G>A | p.G292R | Missense | 2/16 | - | 2 |
1-32280061-CTG-C | c.872_873del | p.T291Rfs*62 | Frameshift | 2/16 | - | 1 |
1-32280063-G-A | c.872C>T | p.T291I | Missense | 2/16 | - | 6 |
1-32280066-G-C | c.869C>G | p.A290G | Missense | 2/16 | - | 1 |
1-32280067-C-T | c.868G>A | p.A290T | Missense | 2/16 | - | 5 |
1-32280068-G-A | c.867C>T | p.P289= | Synonymous | 2/16 | - | 1 |
1-32280069-G-C | c.866C>G | p.P289R | Missense | 2/16 | - | 1 |
1-32280070-G-A | c.865C>T | p.P289S | Missense | 2/16 | - | 1 |
1-32280072-A-C | c.863T>G | p.L288W | Missense | 2/16 | - | 1 |
1-32280086-C-A | c.849G>T | p.E283D | Missense | 2/16 | - | 2 |
1-32280086-C-G | c.849G>C | p.E283D | Missense | 2/16 | - | 1 |
1-32280093-C-T | c.842G>A | p.G281E | Missense | 2/16 | - | 1 |
1-32280096-G-A | c.839C>T | p.S280L | Missense | 2/16 | - | 3 |
1-32280099-G-A | c.836C>T | p.A279V | Missense | 2/16 | - | 1 |
1-32280101-A-G | c.834T>C | p.C278= | Synonymous | 2/16 | - | 1 |
1-32280102-C-G | c.833G>C | p.C278S | Missense | 2/16 | - | 1 |
1-32280103-A-T | c.832T>A | p.C278S | Missense | 2/16 | - | 1 |
1-32280110-C-T | c.825G>A | p.G275= | Synonymous | 2/16 | - | 1 |
1-32280112-C-T | c.823G>A | p.G275R | Missense | 2/16 | - | 1 |
1-32280117-C-A | c.818G>T | p.G273V | Missense | 2/16 | - | 1 |
1-32280119-A-C | c.816T>G | p.G272= | Synonymous | 2/16 | - | 1 |
1-32280119-A-G | c.816T>C | p.G272= | Synonymous | 2/16 | - | 1 |
1-32280119-A-T | c.816T>A | p.G272= | Synonymous | 2/16 | - | 1 |
1-32280121-C-G | c.814G>C | p.G272R | Missense | 2/16 | - | 2 |
1-32280128-T-A | c.807A>T | p.G269= | Synonymous | 2/16 | - | 1 |
1-32280128-T-C | c.807A>G | p.G269= | Synonymous | 2/16 | - | 2 |
1-32280128-T-G | c.807A>C | p.G269= | Synonymous | 2/16 | - | 1 |
1-32280133-G-T | c.802C>A | p.P268T | Missense | 2/16 | - | 1 |
1-32280139-A-C | c.796T>G | p.S266A | Missense | 2/16 | - | 1 |
1-32280141-C-A | c.794G>T | p.G265V | Missense | 2/16 | - | 3 |
1-32280156-G-A | c.779C>T | p.S260F | Missense | 2/16 | - | 1 |
1-32280158-G-A | c.777C>T | p.P259= | Synonymous | 2/16 | - | 2 |
1-32280158-G-T | c.777delinsA | p.P259P | Missense | 2/16 | - | 1 |
1-32280163-G-A | c.772C>T | p.P258S | Missense | 2/16 | - | 2 |
1-32280165-C-A | c.770G>T | p.R257I | Missense | 2/16 | - | 1 |
1-32280167-G-T | c.768C>A | p.C256* | Nonsense | 2/16 | - | 2 |
1-32280168-CA-GT | c.766_767delinsAC | p.C256T | Missense | 2/16 | - | 1 |
1-32280171-G-T | c.764C>A | p.P255H | Missense | 2/16 | - | 1 |
1-32280174-C-A | c.761G>T | p.G254V | Missense | 2/16 | - | 1 |
1-32280174-C-T | c.761G>A | p.G254D | Missense | 2/16 | - | 1 |
1-32280177-C-T | c.758G>A | p.G253E | Missense | 2/16 | - | 4 |
1-32280182-G-A | c.753C>T | p.S251= | Synonymous | 2/16 | - | 2 |
1-32280198-A-T | c.737T>A | p.V246D | Missense | 2/16 | - | 1 |
1-32280200-T-C | c.735A>G | p.Q245= | Synonymous | 2/16 | - | 1 |
1-32280203-G-T | c.732C>A | p.P244= | Synonymous | 2/16 | - | 1 |
1-32280204-G-A | c.731C>T | p.P244L | Missense | 2/16 | - | 4 |
1-32280205-G-A | c.730C>T | p.P244S | Missense | 2/16 | - | 4 |
1-32280206-A-C | c.729T>G | p.P243= | Synonymous | 2/16 | - | 1 |
1-32280209-G-T | c.726C>A | p.D242E | Missense | 2/16 | - | 1 |
1-32280219-GA-AT | c.715_716delinsAT | p.S239I | Missense | 2/16 | - | 1 |
1-32280221-C-A | c.714G>T | p.L238= | Synonymous | 2/16 | - | 1 |
1-32280221-C-G | c.714G>C | p.L238= | Synonymous | 2/16 | - | 1 |
1-32280221-C-T | c.714G>A | p.L238= | Synonymous | 2/16 | - | 1 |
1-32280223-G-A | c.712C>T | p.L238= | Synonymous | 2/16 | - | 1 |
1-32280222-A-C | c.713T>G | p.L238R | Missense | 2/16 | - | 1 |
1-32280228-T-C | c.707A>G | p.N236S | Missense | 2/16 | - | 1 |
1-32280232-C-T | c.703G>A | p.D235N | Missense | 2/16 | - | 1 |
1-32280233-C-A | c.702G>T | p.G234= | Synonymous | 2/16 | - | 2 |
1-32280233-C-G | c.702G>C | p.G234= | Synonymous | 2/16 | - | 2 |
1-32280233-C-T | c.702G>A | p.G234= | Synonymous | 2/16 | - | 4 |
1-32280234-C-T | c.701G>A | p.G234E | Missense | 2/16 | - | 2 |
1-32280237-C-A | c.698G>T | p.R233L | Missense | 2/16 | - | 1 |
1-32280237-C-T | c.698G>A | p.R233H | Missense | 2/16 | - | 1 |
1-32280241-G-T | c.694C>A | p.P232T | Missense | 2/16 | - | 2 |
1-32280247-G-A | c.688C>T | p.Q230* | Nonsense | 2/16 | - | 1 |
1-32280251-A-C | c.684T>G | p.L228= | Synonymous | 2/16 | - | 1 |
1-32280251-A-G | c.684T>C | p.L228= | Synonymous | 2/16 | - | 1 |
1-32280251-A-T | c.684T>A | p.L228= | Synonymous | 2/16 | - | 1 |
1-32280264-T-C | c.671A>G | p.D224G | Missense | 2/16 | - | 1 |
1-32280273-C-G | c.662G>C | p.G221A | Missense | 2/16 | - | 1 |
1-32280277-C-T | c.658G>A | p.E220K | Missense | 2/16 | - | 1 |
1-32280291-T-C | c.644A>G | p.H215R | Missense | 2/16 | - | 1 |
1-32280295-C-A | c.640G>T | p.A214S | Missense | 2/16 | - | 1 |
1-32280295-C-T | c.640G>A | p.A214T | Missense | 2/16 | - | 1 |
1-32280298-C-A | c.637G>T | p.G213W | Missense | 2/16 | - | 1 |
1-32280298-C-T | c.637G>A | p.G213R | Missense | 2/16 | - | 1 |
1-32280314-C-A | c.621G>T | p.K207N | Missense | 2/16 | - | 2 |
1-32280314-C-G | c.621G>C | p.K207N | Missense | 2/16 | - | 1 |
1-32280316-T-C | c.619A>G | p.K207E | Missense | 2/16 | - | 1 |
1-32280317-T-C | c.618A>G | p.R206= | Synonymous | 2/16 | - | 2 |
1-32280317-TCT-ATG | c.616_618delinsCAT | p.R206H | Missense | 2/16 | - | 1 |
1-32280319-T-G | c.616A>C | p.R206= | Synonymous | 2/16 | - | 2 |
1-32280318-C-G | c.617G>C | p.R206T | Missense | 2/16 | - | 1 |
1-32280324-C-A | c.611G>T | p.R204M | Missense | 2/16 | - | 3 |
1-32280332-G-A | c.603C>T | p.V201= | Synonymous | 2/16 | - | 2 |
1-32280340-C-A | c.595G>T | p.D199Y | Missense | 2/16 | - | 1 |
1-32280340-C-T | c.595G>A | p.D199N | Missense | 2/16 | - | 1 |
1-32280347-G-A | c.588C>T | p.S196= | Synonymous | 2/16 | - | 2 |
1-32280359-C-T | c.576G>A | p.R192= | Synonymous | 2/16 | - | 1 |
1-32280360-C-A | c.575G>T | p.R192M | Missense | 2/16 | - | 1 |
1-32280360-C-T | c.575G>A | p.R192K | Missense | 2/16 | - | 1 |
1-32280360-CT-TG | c.574_575delinsCA | p.R192Q | Missense | 2/16 | - | 1 |
1-32280369-G-A | c.566C>T | p.P189L | Missense | 2/16 | - | 8 |
1-32280373-C-T | c.562G>A | p.E188K | Missense | 2/16 | - | 5 |
1-32280379-T-TA | c.555_556insT | p.K186* | Nonsense | 2/16 | - | 1 |
1-32280381-C-G | c.554G>C | p.S185T | Missense | 2/16 | - | 1 |
1-32280381-C-T | c.554G>A | p.S185N | Missense | 2/16 | - | 1 |
1-32280385-G-T | c.550C>A | p.L184I | Missense | 2/16 | - | 1 |
1-32280393-C-T | c.542G>A | p.S181N | Missense | 2/16 | - | 2 |
1-32280394-T-C | c.541A>G | p.S181G | Missense | 2/16 | - | 1 |
1-32280395-T-A | c.540A>T | p.R180S | Missense | 2/16 | - | 1 |
1-32280395-T-G | c.540A>C | p.R180S | Missense | 2/16 | - | 1 |
1-32280408-CC-TT | c.526_527delinsAA | p.G176K | Missense | 2/16 | - | 2 |
1-32280408-C-T | c.527G>A | p.G176E | Missense | 2/16 | - | 3 |
1-32280409-C-G | c.526G>C | p.G176R | Missense | 2/16 | - | 1 |
1-32280409-C-T | c.526G>A | p.G176R | Missense | 2/16 | - | 3 |
1-32280414-G-T | c.521C>A | p.S174Y | Missense | 2/16 | - | 4 |
1-32280423-C-G | c.512G>C | p.G171A | Missense | 2/16 | - | 1 |
1-32280423-C-T | c.512G>A | p.G171E | Missense | 2/16 | - | 2 |
1-32280424-C-G | c.511G>C | p.G171R | Missense | 2/16 | - | 2 |
1-32280424-C-T | c.511G>A | p.G171R | Missense | 2/16 | - | 2 |
1-32280427-C-T | c.508G>A | p.G170S | Missense | 2/16 | - | 3 |
1-32280428-G-A | c.507C>T | p.D169= | Synonymous | 2/16 | - | 1 |
1-32280430-C-A | c.505G>T | p.D169Y | Missense | 2/16 | - | 1 |
1-32280430-C-T | c.505G>A | p.D169N | Missense | 2/16 | - | 1 |
1-32280432-CT-AG | c.502_503inv | p.R168L | Missense | 2/16 | - | 1 |
1-32280436-C-A | c.499G>T | p.A167S | Missense | 2/16 | - | 1 |
1-32280436-C-T | c.499G>A | p.A167T | Missense | 2/16 | - | 2 |
1-32280437-C-A | c.498G>T | p.E166D | Missense | 2/16 | - | 2 |
1-32280437-C-G | c.498G>C | p.E166D | Missense | 2/16 | - | 1 |
1-32280440-C-G | c.495G>C | p.R165S | Missense | 2/16 | - | 1 |
1-32280440-C-T | c.495G>A | p.R165= | Synonymous | 2/16 | - | 2 |
1-32280442-T-G | c.493A>C | p.R165= | Synonymous | 2/16 | - | 1 |
1-32280448-T-A | c.487A>T | p.R163W | Missense | 2/16 | - | 1 |
1-32280449-G-A | c.486C>T | p.L162= | Synonymous | 2/16 | - | 2 |
1-32280449-G-C | c.486C>G | p.L162= | Synonymous | 2/16 | - | 3 |
1-32280449-G-T | c.486C>A | p.L162= | Synonymous | 2/16 | - | 2 |
1-32280456-C-G | c.479G>C | p.S160T | Missense | 2/16 | - | 1 |
1-32280457-T-A | c.478A>T | p.S160C | Missense | 2/16 | - | 1 |
1-32280464-C-T | c.471G>A | p.E157= | Synonymous | 2/16 | - | 1 |
1-32280466-C-CA | c.468_469insT | p.E157* | Nonsense | 2/16 | - | 1 |
1-32280468-A-C | c.467T>G | p.V156G | Missense | 2/16 | - | 1 |
1-32280472-C-T | c.463G>A | p.G155R | Missense | 2/16 | - | 1 |
1-32280474-G-A | c.461C>T | p.A154V | Missense | 2/16 | - | 1 |
1-32280479-C-T | c.456G>A | p.R152= | Synonymous | 2/16 | - | 2 |
1-32280481-T-G | c.454A>C | p.R152= | Synonymous | 2/16 | - | 1 |
1-32280489-C-A | c.446G>T | p.C149F | Missense | 2/16 | - | 1 |
1-32280492-G-T | c.443C>A | p.A148D | Missense | 2/16 | - | 5 |
1-32280497-AG-CT | c.437_438inv | p.A146E | Missense | 2/16 | - | 1 |
1-32280501-C-T | c.434G>A | p.R145K | Missense | 2/16 | - | 5 |
1-32280503-C-A | c.432G>T | p.E144D | Missense | 2/16 | - | 3 |
1-32280503-C-G | c.432G>C | p.E144D | Missense | 2/16 | - | 4 |
1-32280509-G-A | c.426C>T | p.L142= | Synonymous | 2/16 | - | 3 |
1-32280516-G-A | c.419C>T | p.A140V | Missense | 2/16 | - | 1 |
1-32280536-C-T | c.399G>A | p.R133= | Synonymous | 2/16 | - | 4 |
1-32280548-G-T | c.387C>A | p.D129E | Missense | 2/16 | - | 1 |
1-32280581-CCT-ATG | c.352_354delinsCAT | p.R118H | Missense | 2/16 | - | 1 |
1-32280583-T-A | c.352A>T | p.R118W | Missense | 2/16 | - | 1 |
1-32280589-A-T | c.346T>A | p.S116T | Missense | 2/16 | - | 1 |
1-32280597-G-A | c.338C>T | p.A113V | Missense | 2/16 | - | 1 |
1-32280600-CT-TG | c.334_335delinsCA | p.R112Q | Missense | 2/16 | - | 1 |
1-32280603-C-G | c.332G>C | p.G111A | Missense | 2/16 | - | 1 |
1-32280601-TC-T | c.333del | p.R112Efs*3 | Frameshift | 2/16 | - | 1 |
1-32280607-G-A | c.328C>T | p.Q110* | Nonsense | 2/16 | - | 1 |
1-32280608-A-C | c.327T>G | p.T109= | Synonymous | 2/16 | - | 1 |
1-32280608-A-G | c.327T>C | p.T109= | Synonymous | 2/16 | - | 1 |
1-32280608-A-T | c.327T>A | p.T109= | Synonymous | 2/16 | - | 1 |
1-32280609-G-C | c.326C>G | p.T109S | Missense | 2/16 | - | 1 |
1-32280610-T-C | c.325A>G | p.T109A | Missense | 2/16 | - | 26 |
1-32280615-A-C | c.320T>G | p.V107G | Missense | 2/16 | - | 5 |
1-32280615-A-G | c.320T>C | p.V107A | Missense | 2/16 | - | 1 |
1-32280618-G-A | c.317C>T | p.S106L | Missense | 2/16 | - | 1 |
1-32280618-G-T | c.317C>A | p.S106* | Nonsense | 2/16 | - | 1 |
1-32280620-G-A | c.315C>T | p.P105= | Synonymous | 2/16 | - | 1 |
1-32280620-G-C | c.315C>G | p.P105= | Synonymous | 2/16 | - | 1 |
1-32280620-G-T | c.315C>A | p.P105= | Synonymous | 2/16 | - | 3 |
1-32280622-G-A | c.313C>T | p.P105S | Missense | 2/16 | - | 2 |
1-32280625-G-T | c.310C>A | p.L104M | Missense | 2/16 | - | 2 |
1-32280643-G-A | c.292C>T | p.P98S | Missense | 2/16 | - | 5 |
1-32280649-G-A | c.286C>T | p.L96= | Synonymous | 2/16 | - | 1 |
1-32280653-CG-AA | c.281_282delinsTT | p.S94F | Missense | 2/16 | - | 1 |
1-32280654-G-T | c.281C>A | p.S94* | Nonsense | 2/16 | - | 1 |
1-32280656-G-A | c.279C>T | p.G93= | Synonymous | 2/16 | - | 1 |
1-32280658-C-T | c.277G>A | p.G93S | Missense | 2/16 | - | 3 |
1-32280674-AGC-TTG | c.259_261delinsCAA | p.A87Q | Missense | 2/16 | - | 1 |
1-32280675-G-A | c.260C>T | p.A87V | Missense | 2/16 | - | 2 |
1-32280685-C-T | c.250G>A | p.E84K | Missense | 2/16 | - | 1 |
1-32280686-C-CA | c.248dup | p.L83Ffs*43 | Frameshift | 2/16 | - | 1 |
1-32280694-C-G | c.241G>C | p.G81R | Missense | 2/16 | - | 1 |
1-32280694-C-T | c.241G>A | p.G81R | Missense | 2/16 | - | 1 |
1-32280698-CCG-ACA | c.235_237delinsTGT | p.R79C | Missense | 2/16 | - | 1 |
1-32280698-C-T | c.237G>A | p.R79= | Synonymous | 2/16 | - | 1 |
1-32280699-C-A | c.236G>T | p.R79L | Missense | 2/16 | - | 1 |
1-32280699-C-T | c.236G>A | p.R79Q | Missense | 2/16 | - | 2 |
1-32280703-C-T | c.232G>A | p.V78I | Missense | 2/16 | - | 2 |
1-32280707-A-C | c.228T>G | p.A76= | Synonymous | 2/16 | - | 1 |
1-32280707-A-G | c.228T>C | p.A76= | Synonymous | 2/16 | - | 1 |
1-32280707-A-T | c.228T>A | p.A76= | Synonymous | 2/16 | - | 1 |
1-32280710-AGC-TTA | c.223_225delinsTAA | p.A75* | Nonsense | 2/16 | - | 1 |
1-32280716-T-A | c.219A>T | p.A73= | Synonymous | 2/16 | - | 1 |
1-32280716-T-C | c.219A>G | p.A73= | Synonymous | 2/16 | - | 2 |
1-32280716-T-G | c.219A>C | p.A73= | Synonymous | 2/16 | - | 1 |
1-32280722-CC-AT | c.212_213delinsAT | p.R71H | Missense | 2/16 | - | 1 |
1-32280723-C-A | c.212G>T | p.R71L | Missense | 2/16 | - | 1 |
1-32280723-C-G | c.212G>C | p.R71P | Missense | 2/16 | - | 1 |
1-32280723-C-T | c.212G>A | p.R71Q | Missense | 2/16 | - | 1 |
1-32280724-G-A | c.211C>T | p.R71W | Missense | 2/16 | - | 5 |
1-32280732-C-T | c.203G>A | p.G68D | Missense | 2/16 | - | 1 |
1-32280737-TCG-CCA | c.196_198delinsTGG | p.R66W | Missense | 2/16 | - | 1 |
1-32280738-C-T | c.197G>A | p.R66Q | Missense | 2/16 | - | 2 |
1-32280739-G-A | c.196C>T | p.R66* | Nonsense | 2/16 | - | 4 |
1-32280743-G-A | c.192C>T | p.A64= | Synonymous | 2/16 | - | 4 |
1-32280744-G-A | c.191C>T | p.A64V | Missense | 2/16 | - | 1 |
1-32280748-C-T | c.187G>A | p.E63K | Missense | 2/16 | - | 3 |
1-32280755-G-A | c.180C>T | p.P60= | Synonymous | 2/16 | - | 1 |
1-32280755-G-C | c.180C>G | p.P60= | Synonymous | 2/16 | - | 1 |
1-32280755-G-T | c.180C>A | p.P60= | Synonymous | 2/16 | - | 1 |
1-32280756-G-T | c.179C>A | p.P60H | Missense | 2/16 | - | 1 |
1-32280757-G-A | c.178C>T | p.P60S | Missense | 2/16 | - | 1 |
1-32280758-G-A | c.177C>T | p.I59= | Synonymous | 2/16 | - | 2 |
1-32280758-G-T | c.177C>A | p.I59= | Synonymous | 2/16 | - | 1 |
1-32280764-C-T | c.171G>A | p.R57= | Synonymous | 2/16 | - | 4 |
1-32280765-CT-TG | c.169_170delinsCA | p.R57Q | Missense | 2/16 | - | 1 |
1-32280771-CT-AA | c.163_164delinsTT | p.S55F | Missense | 2/16 | - | 1 |
1-32280775-C-A | c.160G>T | p.G54C | Missense | 2/16 | - | 1 |
1-32280779-CC-GA | c.155_156delinsTC | p.R52I | Missense | 2/16 | - | 1 |
1-32280785-TCC-GCT | c.148_150delinsAGC | p.G50S | Missense | 2/16 | - | 2 |
1-32280786-C-T | c.149G>A | p.G50E | Missense | 2/16 | - | 1 |
1-32280787-C-G | c.148G>C | p.G50R | Missense | 2/16 | - | 2 |
1-32280787-C-T | c.148G>A | p.G50R | Missense | 2/16 | - | 3 |
1-32280788-G-A | c.147C>T | p.P49= | Synonymous | 2/16 | - | 1 |
1-32280788-G-C | c.147C>G | p.P49= | Synonymous | 2/16 | - | 1 |
1-32280790-G-A | c.145C>T | p.P49S | Missense | 2/16 | - | 1 |
1-32280795-G-T | c.140C>A | p.S47Y | Missense | 2/16 | - | 1 |
1-32280800-TG-GT | c.134_135delinsAC | p.A45D | Missense | 2/16 | - | 1 |
1-32280802-C-G | c.133G>C | p.A45P | Missense | 2/16 | - | 2 |
1-32280807-G-A | c.128C>T | p.P43L | Missense | 2/16 | - | 2 |
1-32280812-A-G | c.123T>C | p.D41= | Synonymous | 2/16 | - | 1 |
1-32280820-A-T | c.115T>A | p.S39T | Missense | 2/16 | - | 1 |
1-32280827-T-A | c.108A>T | p.P36= | Synonymous | 2/16 | - | 1 |
1-32280827-T-C | c.108A>G | p.P36= | Synonymous | 2/16 | - | 1 |
1-32280827-T-G | c.108A>C | p.P36= | Synonymous | 2/16 | - | 1 |
1-32280833-G-A | c.102C>T | p.S34= | Synonymous | 2/16 | - | 1 |
1-32280833-G-C | c.102C>G | p.S34= | Synonymous | 2/16 | - | 1 |
1-32280833-G-T | c.102C>A | p.S34= | Synonymous | 2/16 | - | 1 |
1-32280837-CT-AA | c.97_98delinsTT | p.S33F | Missense | 2/16 | - | 1 |
1-32280838-T-A | c.97A>T | p.S33C | Missense | 2/16 | - | 1 |
1-32280840-GC-TT | c.94_95delinsAA | p.A32N | Missense | 2/16 | - | 1 |
1-32280841-C-T | c.94G>A | p.A32T | Missense | 2/16 | - | 1 |
1-32280842-T-C | c.93A>G | p.G31= | Synonymous | 2/16 | - | 1 |
1-32280843-C-G | c.92G>C | p.G31A | Missense | 2/16 | - | 1 |
1-32280843-C-T | c.92G>A | p.G31E | Missense | 2/16 | - | 3 |
1-32280844-C-G | c.91G>C | p.G31R | Missense | 2/16 | - | 1 |
1-32280844-C-T | c.91G>A | p.G31R | Missense | 2/16 | - | 2 |
1-32280865-C-T | c.70G>A | p.E24K | Missense | 2/16 | - | 3 |
1-32280879-G-A | c.56C>T | p.P19L | Missense | 2/16 | - | 2 |
1-32280885-A-G | c.50T>C | p.L17P | Missense | 2/16 | - | 2 |
1-32280887-C-A | c.48G>T | p.V16= | Synonymous | 2/16 | - | 1 |
1-32280887-C-G | c.48G>C | p.V16= | Synonymous | 2/16 | - | 1 |
1-32280887-C-T | c.48G>A | p.V16= | Synonymous | 2/16 | - | 1 |
1-32280897-C-T | c.38G>A | p.G13E | Missense | 2/16 | - | 3 |
1-32280898-C-G | c.37G>C | p.G13R | Missense | 2/16 | - | 1 |
1-32280898-C-T | c.37G>A | p.G13R | Missense | 2/16 | - | 1 |
1-32280900-G-A | c.35C>T | p.T12I | Missense | 2/16 | - | 1 |
1-32280900-TG-T | c.35del | p.T12Kfs*75 | Frameshift | 2/16 | - | 1 |
1-32280901-T-C | c.34A>G | p.T12A | Missense | 2/16 | - | 1 |
1-32280903-C-T | c.32G>A | p.S11N | Missense | 2/16 | - | 1 |
1-32280906-G-A | c.29C>T | p.P10L | Missense | 2/16 | - | 1 |
1-32280908-G-A | c.27C>T | p.G9= | Synonymous | 2/16 | - | 1 |
1-32280917-G-A | c.18C>T | p.D6= | Synonymous | 2/16 | - | 1 |
1-32280921-C-A | c.14G>T | p.G5V | Missense | 2/16 | - | 1 |
1-32280922-C-T | c.13G>A | p.G5R | Missense | 2/16 | - | 5 |
1-32280924-G-A | c.11C>T | p.A4V | Missense | 2/16 | - | 2 |
1-32280926-C-A | c.9G>T | p.Q3H | Missense | 2/16 | - | 1 |
1-32280926-C-G | c.9G>C | p.Q3H | Missense | 2/16 | - | 1 |