Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
15-43016475-A-G | c.*214T>C | - | 3-UTRSNV | 28/28 | - | 6 |
15-43016547-T-C | c.*142A>G | - | 3-UTRSNV | 28/28 | - | 4 |
15-43016708-GT-CA | c.3664_3665delinsTG | p.T1222C | Missense | 28/28 | - | 1 |
15-43016712-C-A | c.3661G>T | p.G1221C | Missense | 28/28 | - | 1 |
15-43016715-G-A | c.3658C>T | p.R1220W | Missense | 28/28 | - | 1 |
15-43016720-G-A | c.3653C>T | p.P1218L | Missense | 28/28 | - | 4 |
15-43016723-T-C | c.3650A>G | p.Q1217R | Missense | 28/28 | - | 1 |
15-43016731-C-A | c.3642G>T | p.E1214D | Missense | 28/28 | - | 1 |
15-43016733-C-T | c.3640G>A | p.E1214K | Missense | 28/28 | - | 1 |
15-43016737-G-A | c.3636C>T | p.A1212= | Synonymous | 28/28 | - | 1 |
15-43016737-G-C | c.3636C>G | p.A1212= | Synonymous | 28/28 | - | 1 |
15-43016737-G-T | c.3636C>A | p.A1212= | Synonymous | 28/28 | - | 1 |
15-43016740-TCT-ATG | c.3631_3633delinsCAT | p.R1211H | Missense | 28/28 | - | 1 |
15-43016744-A-C | c.3629T>G | p.L1210R | Missense | 28/28 | - | 1 |
15-43016750-G-C | c.3623C>G | p.P1208R | Missense | 28/28 | - | 1 |
15-43016751-G-A | c.3622C>T | p.P1208S | Missense | 28/28 | - | 1 |
15-43016756-G-C | c.3617C>G | p.P1206R | Missense | 28/28 | - | 1 |
15-43016769-C-T | c.3604G>A | p.E1202K | Missense | 28/28 | - | 2 |
15-43016771-G-T | c.3602C>A | p.A1201D | Missense | 28/28 | - | 1 |
15-43016775-G-T | c.3598C>A | p.L1200I | Missense | 28/28 | - | 1 |
15-43016796-C-G | c.3577G>C | p.A1193P | Missense | 28/28 | - | 1 |
15-43016798-A-C | c.3575T>G | p.L1192* | Nonsense | 28/28 | - | 1 |
15-43016798-A-G | c.3575T>C | p.L1192S | Missense | 28/28 | - | 1 |
15-43016798-A-T | c.3575T>A | p.L1192* | Nonsense | 28/28 | - | 1 |
15-43016802-C-A | c.3571G>T | p.E1191* | Nonsense | 28/28 | - | 1 |
15-43016807-G-T | c.3566C>A | p.A1189D | Missense | 28/28 | - | 1 |
15-43016883-T-TAAAG | c.3559-73_3559-70dup | - | IntronicInsertion | - | 27/27 | 2 |
15-43017081-G-A | c.3558+261C>T | - | IntronicSNV | - | 27/27 | 3 |
15-43017153-C-T | c.3558+189G>A | - | IntronicSNV | - | 27/27 | 1 |
15-43017348-C-G | c.3552G>C | p.W1184C | Missense | 27/28 | - | 1 |
15-43017349-C-A | c.3551G>T | p.W1184L | Missense | 27/28 | - | 1 |
15-43017355-G-A | c.3545C>T | p.A1182V | Missense | 27/28 | - | 4 |
15-43017368-T-C | c.3532A>G | p.S1178G | Missense | 27/28 | - | 1 |
15-43017376-CA-GT | c.3523_3524delinsAC | p.C1175T | Missense | 27/28 | - | 1 |
15-43017376-C-T | c.3524G>A | p.C1175Y | Missense | 27/28 | - | 1 |
15-43017381-C-A | c.3519G>T | p.E1173D | Missense | 27/28 | - | 2 |
15-43017381-C-G | c.3519G>C | p.E1173D | Missense | 27/28 | - | 5 |
15-43017383-C-T | c.3517G>A | p.E1173K | Missense | 27/28 | - | 2 |
15-43017385-A-G | c.3515T>C | p.I1172T | Missense | 27/28 | - | 1 |
15-43017386-T-G | c.3514A>C | p.I1172L | Missense | 27/28 | - | 1 |
15-43017391-A-G | c.3509T>C | p.M1170T | Missense | 27/28 | - | 1 |
15-43017394-C-G | c.3506G>C | p.R1169P | Missense | 27/28 | - | 1 |
15-43017395-G-A | c.3505C>T | p.R1169W | Missense | 27/28 | - | 2 |
15-43017395-G-C | c.3505C>G | p.R1169G | Missense | 27/28 | - | 1 |
15-43017395-G-T | c.3505C>A | p.R1169= | Synonymous | 27/28 | - | 1 |
15-43017403-A-G | c.3497T>C | p.L1166P | Missense | 27/28 | - | 1 |
15-43017404-G-A | c.3496C>T | p.L1166= | Synonymous | 27/28 | - | 1 |
15-43017413-C-G | c.3487G>C | p.E1163Q | Missense | 27/28 | - | 3 |
15-43017419-G-C | c.3481C>G | p.L1161V | Missense | 27/28 | - | 1 |
15-43017419-G-T | c.3481C>A | p.L1161M | Missense | 27/28 | - | 1 |
15-43017422-C-T | c.3478G>A | p.E1160K | Missense | 27/28 | - | 1 |
15-43017425-G-A | c.3475C>T | p.R1159W | Missense | 27/28 | - | 2 |
15-43017426-T-A | c.3474A>T | p.L1158= | Synonymous | 27/28 | - | 19 |
15-43017426-T-C | c.3474A>G | p.L1158= | Synonymous | 27/28 | - | 20 |
15-43017426-T-G | c.3474A>C | p.L1158= | Synonymous | 27/28 | - | 22 |
15-43017428-G-A | c.3472C>T | p.L1158= | Synonymous | 27/28 | - | 1 |
15-43017427-A-G | c.3473T>C | p.L1158P | Missense | 27/28 | - | 1 |
15-43017432-G-C | c.3468C>G | p.F1156L | Missense | 27/28 | - | 1 |
15-43017432-G-T | c.3468C>A | p.F1156L | Missense | 27/28 | - | 1 |
15-43017438-C-T | c.3462G>A | p.L1154= | Synonymous | 27/28 | - | 1 |
15-43017448-C-T | c.3452G>A | p.W1151* | Nonsense | 27/28 | - | 1 |
15-43017676-G-A | c.3450+11C>T | - | IntronicSNV | - | 26/27 | 3 |
15-43017687-C-G | c.3450G>C | p.E1150D | Missense | 26/28 | - | 1 |
15-43017689-C-A | c.3448G>T | p.E1150* | Nonsense | 26/28 | - | 1 |
15-43017689-C-T | c.3448G>A | p.E1150K | Missense | 26/28 | - | 1 |
15-43017696-CCT-ATG | c.3439_3441delinsCAT | p.R1147H | Missense | 26/28 | - | 1 |
15-43017700-G-GT | c.3436dup | p.T1146Nfs*45 | Frameshift | 26/28 | - | 1 |
15-43017702-G-A | c.3435C>T | p.D1145= | Synonymous | 26/28 | - | 1 |
15-43017718-A-G | c.3419T>C | p.V1140A | Missense | 26/28 | - | 3 |
15-43017723-T-A | c.3414A>T | p.R1138S | Missense | 26/28 | - | 1 |
15-43017723-T-G | c.3414A>C | p.R1138S | Missense | 26/28 | - | 1 |
15-43017724-C-G | c.3413G>C | p.R1138T | Missense | 26/28 | - | 1 |
15-43017728-G-A | c.3409C>T | p.P1137S | Missense | 26/28 | - | 1 |
15-43017731-T-A | c.3406A>T | p.S1136C | Missense | 26/28 | - | 1 |
15-43017731-T-G | c.3406A>C | p.S1136R | Missense | 26/28 | - | 1 |
15-43017735-C-T | c.3402G>A | p.L1134= | Synonymous | 26/28 | - | 1 |
15-43017739-A-G | c.3398T>C | p.L1133P | Missense | 26/28 | - | 1 |
15-43017747-C-A | c.3390G>T | p.P1130= | Synonymous | 26/28 | - | 1 |
15-43017747-C-G | c.3390G>C | p.P1130= | Synonymous | 26/28 | - | 1 |
15-43017747-C-T | c.3390G>A | p.P1130= | Synonymous | 26/28 | - | 3 |
15-43017748-G-A | c.3389C>T | p.P1130L | Missense | 26/28 | - | 9 |
15-43017749-G-A | c.3388C>T | p.P1130S | Missense | 26/28 | - | 1 |
15-43017752-C-T | c.3385G>A | p.V1129I | Missense | 26/28 | - | 3 |
15-43017754-G-A | c.3383C>T | p.P1128L | Missense | 26/28 | - | 4 |
15-43017755-G-A | c.3382C>T | p.P1128S | Missense | 26/28 | - | 4 |
15-43017765-G-A | c.3372C>T | p.D1124= | Synonymous | 26/28 | - | 1 |
15-43017772-T-G | c.3365A>C | p.K1122T | Missense | 26/28 | - | 1 |
15-43017773-T-C | c.3364A>G | p.K1122E | Missense | 26/28 | - | 1 |
15-43017789-C-T | c.3348G>A | p.M1116I | Missense | 26/28 | - | 1 |
15-43017799-A-G | c.3338T>C | p.L1113P | Missense | 26/28 | - | 1 |
15-43017805-C-T | c.3332G>A | p.R1111Q | Missense | 26/28 | - | 2 |
15-43017809-C-T | c.3328G>A | p.A1110T | Missense | 26/28 | - | 1 |
15-43017815-C-T | c.3322G>A | p.G1108R | Missense | 26/28 | - | 1 |
15-43017817-C-T | c.3320G>A | p.R1107K | Missense | 26/28 | - | 1 |
15-43017821-C-A | c.3316G>T | p.E1106* | Nonsense | 26/28 | - | 1 |
15-43017826-C-T | c.3311G>A | p.R1104K | Missense | 26/28 | - | 1 |
15-43017832-T-C | c.3305A>G | p.Q1102R | Missense | 26/28 | - | 2 |
15-43017838-G-A | c.3299C>T | p.P1100L | Missense | 26/28 | - | 3 |
15-43017841-G-A | c.3296C>T | p.P1099L | Missense | 26/28 | - | 1 |
15-43017841-G-T | c.3296C>A | p.P1099H | Missense | 26/28 | - | 1 |
15-43017843-C-A | c.3294G>T | p.G1098= | Synonymous | 26/28 | - | 1 |
15-43017843-C-G | c.3294G>C | p.G1098= | Synonymous | 26/28 | - | 1 |
15-43017843-C-T | c.3294G>A | p.G1098= | Synonymous | 26/28 | - | 1 |
15-43017849-G-A | c.3288C>T | p.I1096= | Synonymous | 26/28 | - | 1 |
15-43017851-T-C | c.3286A>G | p.I1096V | Missense | 26/28 | - | 1 |
15-43017853-G-A | c.3284C>T | p.P1095L | Missense | 26/28 | - | 1 |
15-43017912-C-T | c.3269-44G>A | - | IntronicSNV | - | 25/27 | 1 |
15-43017919-G-A | c.3269-51C>T | - | IntronicSNV | - | 25/27 | 5 |
15-43018173-CAAAA-C | c.3268+118_3268+121del | - | IntronicDeletion | - | 25/27 | 1 |
15-43018173-CAAA-C | c.3268+119_3268+121del | - | IntronicDeletion | - | 25/27 | 1 |
15-43018295-C-G | c.3268G>C | p.V1090L | Missense | 25/28 | - | 1 |
15-43018295-C-T | c.3268G>A | p.V1090I | Missense | 25/28 | - | 5 |
15-43018316-C-A | c.3247G>T | p.V1083L | Missense | 25/28 | - | 1 |
15-43018316-C-G | c.3247G>C | p.V1083L | Missense | 25/28 | - | 1 |
15-43018324-T-A | c.3239A>T | p.K1080M | Missense | 25/28 | - | 1 |
15-43018325-T-C | c.3238A>G | p.K1080E | Missense | 25/28 | - | 1 |
15-43018327-G-A | c.3236C>T | p.A1079V | Missense | 25/28 | - | 1 |
15-43018334-G-A | c.3229C>T | p.H1077Y | Missense | 25/28 | - | 1 |
15-43018336-T-G | c.3227A>C | p.Q1076P | Missense | 25/28 | - | 1 |
15-43018339-T-G | c.3224A>C | p.E1075A | Missense | 25/28 | - | 1 |
15-43018340-C-A | c.3223G>T | p.E1075* | Nonsense | 25/28 | - | 1 |
15-43018340-C-T | c.3223G>A | p.E1075K | Missense | 25/28 | - | 1 |
15-43018345-G-T | c.3218C>A | p.P1073H | Missense | 25/28 | - | 1 |
15-43018346-G-A | c.3217C>T | p.P1073S | Missense | 25/28 | - | 2 |
15-43018347-T-A | c.3216A>T | p.P1072= | Synonymous | 25/28 | - | 1 |
15-43018347-T-C | c.3216A>G | p.P1072= | Synonymous | 25/28 | - | 1 |
15-43018347-T-G | c.3216A>C | p.P1072= | Synonymous | 25/28 | - | 1 |
15-43018349-G-T | c.3214C>A | p.P1072T | Missense | 25/28 | - | 1 |
15-43018353-C-A | c.3210G>T | p.L1070= | Synonymous | 25/28 | - | 1 |
15-43018470-C-T | c.3204+38G>A | - | IntronicSNV | - | 24/27 | 1 |
15-43018486-G-A | c.3204+22C>T | - | IntronicSNV | - | 24/27 | 7 |
15-43018503-C-T | c.3204+5G>A | - | IntronicSNV | - | 24/27 | 1 |
15-43018505-C-CA | c.3204+2dup | - | SpliceDonorInsertion | - | 24/27 | 1 |
15-43018511-G-A | c.3201C>T | p.R1067= | Synonymous | 24/28 | - | 3 |
15-43018512-C-T | c.3200G>A | p.R1067H | Missense | 24/28 | - | 1 |
15-43018513-G-A | c.3199C>T | p.R1067C | Missense | 24/28 | - | 1 |
15-43018518-C-T | c.3194G>A | p.R1065Q | Missense | 24/28 | - | 10 |
15-43018519-G-A | c.3193C>T | p.R1065W | Missense | 24/28 | - | 1 |
15-43018526-C-T | c.3186G>A | p.Q1062= | Synonymous | 24/28 | - | 1 |
15-43018530-C-A | c.3182G>T | p.G1061V | Missense | 24/28 | - | 1 |
15-43018530-C-T | c.3182G>A | p.G1061D | Missense | 24/28 | - | 1 |
15-43018535-C-T | c.3177G>A | p.Q1059= | Synonymous | 24/28 | - | 1 |
15-43018541-T-A | c.3171A>T | p.L1057= | Synonymous | 24/28 | - | 1 |
15-43018541-T-C | c.3171A>G | p.L1057= | Synonymous | 24/28 | - | 1 |
15-43018541-T-G | c.3171A>C | p.L1057= | Synonymous | 24/28 | - | 1 |
15-43018543-G-A | c.3169C>T | p.L1057= | Synonymous | 24/28 | - | 2 |
15-43018546-G-A | c.3166C>T | p.L1056F | Missense | 24/28 | - | 1 |
15-43018558-G-A | c.3154C>T | p.H1052Y | Missense | 24/28 | - | 3 |
15-43018559-C-A | c.3153G>T | p.E1051D | Missense | 24/28 | - | 1 |
15-43018559-C-T | c.3153G>A | p.E1051= | Synonymous | 24/28 | - | 4 |
15-43018563-G-A | c.3149C>T | p.P1050L | Missense | 24/28 | - | 1 |
15-43018564-G-T | c.3148C>A | p.P1050T | Missense | 24/28 | - | 1 |
15-43018566-G-A | c.3146C>T | p.S1049F | Missense | 24/28 | - | 1 |
15-43018571-T-A | c.3141A>T | p.G1047= | Synonymous | 24/28 | - | 1 |
15-43018571-T-C | c.3141A>G | p.G1047= | Synonymous | 24/28 | - | 1 |
15-43018571-T-G | c.3141A>C | p.G1047= | Synonymous | 24/28 | - | 1 |
15-43018584-T-A | c.3128A>T | p.D1043V | Missense | 24/28 | - | 4 |
15-43018584-T-G | c.3128A>C | p.D1043A | Missense | 24/28 | - | 1 |
15-43018585-C-A | c.3127G>T | p.D1043Y | Missense | 24/28 | - | 1 |
15-43018586-C-T | c.3126G>A | p.R1042= | Synonymous | 24/28 | - | 3 |
15-43018587-C-T | c.3125G>A | p.R1042Q | Missense | 24/28 | - | 1 |
15-43018586-C-A | c.3126G>T | p.R1042= | Synonymous | 24/28 | - | 2 |
15-43018586-C-G | c.3126G>C | p.R1042= | Synonymous | 24/28 | - | 2 |
15-43018588-G-A | c.3124C>T | p.R1042W | Missense | 24/28 | - | 14 |
15-43018588-G-T | c.3124C>A | p.R1042= | Synonymous | 24/28 | - | 2 |
15-43018593-C-T | c.3119G>A | p.G1040E | Missense | 24/28 | - | 1 |
15-43018597-C-A | c.3115G>T | p.V1039L | Missense | 24/28 | - | 1 |
15-43018602-A-C | c.3110T>G | p.L1037W | Missense | 24/28 | - | 1 |
15-43018605-G-A | c.3107C>T | p.S1036F | Missense | 24/28 | - | 1 |
15-43018605-G-C | c.3107C>G | p.S1036C | Missense | 24/28 | - | 1 |
15-43018606-A-G | c.3106T>C | p.S1036P | Missense | 24/28 | - | 1 |
15-43018607-G-A | c.3105C>T | p.L1035= | Synonymous | 24/28 | - | 1 |
15-43018607-G-C | c.3105C>G | p.L1035= | Synonymous | 24/28 | - | 1 |
15-43018607-G-T | c.3105C>A | p.L1035= | Synonymous | 24/28 | - | 1 |
15-43018691-T-G | c.3097-76A>C | - | IntronicSNV | - | 23/27 | 5 |
15-43019838-T-G | c.3077A>C | p.H1026P | Missense | 23/28 | - | 1 |
15-43019839-G-A | c.3076C>T | p.H1026Y | Missense | 23/28 | - | 1 |
15-43019841-G-C | c.3074C>G | p.S1025C | Missense | 23/28 | - | 2 |
15-43019843-G-A | c.3072C>T | p.P1024= | Synonymous | 23/28 | - | 1 |
15-43019844-G-A | c.3071C>T | p.P1024L | Missense | 23/28 | - | 1 |
15-43019844-G-T | c.3071C>A | p.P1024H | Missense | 23/28 | - | 1 |
15-43019845-G-A | c.3070C>T | p.P1024S | Missense | 23/28 | - | 1 |
15-43019865-CA-GT | c.3049_3050delinsAC | p.C1017T | Missense | 23/28 | - | 1 |
15-43019869-C-CG | c.3045dup | p.A1016Rfs*3 | Frameshift | 23/28 | - | 1 |
15-43019870-G-A | c.3045C>T | p.R1015= | Synonymous | 23/28 | - | 3 |
15-43019870-G-T | c.3045C>A | p.R1015= | Synonymous | 23/28 | - | 1 |
15-43019886-C-T | c.3029G>A | p.R1010Q | Missense | 23/28 | - | 1 |
15-43019887-G-A | c.3028C>T | p.R1010W | Missense | 23/28 | - | 1 |
15-43019887-G-C | c.3028C>G | p.R1010G | Missense | 23/28 | - | 1 |
15-43019887-G-GC | c.3027dup | p.R1010Afs*9 | Frameshift | 23/28 | - | 1 |
15-43019889-T-A | c.3026A>T | p.E1009V | Missense | 23/28 | - | 1 |
15-43019890-C-CAA | c.3024_3025insTT | p.E1009Lfs*24 | Frameshift | 23/28 | - | 1 |
15-43019893-C-A | c.3022G>T | p.G1008W | Missense | 23/28 | - | 3 |
15-43019889-TC-T | c.3025del | p.E1009Sfs*23 | Frameshift | 23/28 | - | 1 |
15-43019889-T-TC | c.3025dup | p.E1009Gfs*10 | Frameshift | 23/28 | - | 1 |
15-43019895-C-T | c.3020G>A | p.R1007Q | Missense | 23/28 | - | 2 |
15-43019896-G-A | c.3019C>T | p.R1007W | Missense | 23/28 | - | 2 |
15-43019906-T-C | c.3009A>G | p.E1003= | Synonymous | 23/28 | - | 1 |
15-43019913-C-A | c.3002G>T | p.G1001V | Missense | 23/28 | - | 1 |
15-43019913-C-T | c.3002G>A | p.G1001D | Missense | 23/28 | - | 1 |
15-43019920-C-T | c.2995G>A | p.A999T | Missense | 23/28 | - | 1 |
15-43019922-C-G | c.2993G>C | p.R998P | Missense | 23/28 | - | 1 |
15-43019922-C-T | c.2993G>A | p.R998Q | Missense | 23/28 | - | 1 |
15-43019923-G-A | c.2992C>T | p.R998* | Nonsense | 23/28 | - | 3 |
15-43019930-GC-TT | c.2984_2985delinsAA | p.R995Q | Missense | 23/28 | - | 1 |
15-43019931-C-A | c.2984G>T | p.R995L | Missense | 23/28 | - | 1 |
15-43019931-C-G | c.2984G>C | p.R995P | Missense | 23/28 | - | 2 |
15-43019931-C-T | c.2984G>A | p.R995H | Missense | 23/28 | - | 8 |
15-43019933-A-T | c.2982T>A | p.S994R | Missense | 23/28 | - | 1 |
15-43019946-T-C | c.2969A>G | p.K990R | Missense | 23/28 | - | 1 |
15-43019948-C-G | c.2967G>C | p.V989= | Synonymous | 23/28 | - | 1 |
15-43019958-C-A | c.2957G>T | p.R986M | Missense | 23/28 | - | 1 |
15-43019963-C-A | c.2952G>T | p.L984= | Synonymous | 23/28 | - | 1 |
15-43019963-C-G | c.2952G>C | p.L984= | Synonymous | 23/28 | - | 1 |
15-43019963-C-T | c.2952G>A | p.L984= | Synonymous | 23/28 | - | 1 |
15-43019965-G-A | c.2950C>T | p.L984= | Synonymous | 23/28 | - | 1 |
15-43019967-G-A | c.2948C>T | p.A983V | Missense | 23/28 | - | 1 |
15-43019980-G-A | c.2948-13C>T | - | IntronicSNV | - | 22/27 | 1 |
15-43020159-T-C | c.2941A>G | p.I981V | Missense | 22/28 | - | 2 |
15-43020165-C-A | c.2935G>T | p.A979S | Missense | 22/28 | - | 1 |
15-43020167-G-A | c.2933C>T | p.S978L | Missense | 22/28 | - | 1 |
15-43020171-G-A | c.2929C>T | p.L977= | Synonymous | 22/28 | - | 1 |
15-43020176-G-A | c.2924C>T | p.A975V | Missense | 22/28 | - | 1 |
15-43020179-C-G | c.2921G>C | p.C974S | Missense | 22/28 | - | 1 |
15-43020180-A-T | c.2920T>A | p.C974S | Missense | 22/28 | - | 1 |
15-43020183-C-A | c.2917G>T | p.A973S | Missense | 22/28 | - | 1 |
15-43020185-T-G | c.2915A>C | p.K972T | Missense | 22/28 | - | 1 |
15-43020189-C-T | c.2911G>A | p.E971K | Missense | 22/28 | - | 2 |
15-43020192-T-C | c.2908A>G | p.T970A | Missense | 22/28 | - | 2 |
15-43020194-G-C | c.2906C>G | p.A969G | Missense | 22/28 | - | 1 |
15-43020195-C-T | c.2905G>A | p.A969T | Missense | 22/28 | - | 1 |
15-43020200-C-T | c.2900G>A | p.G967E | Missense | 22/28 | - | 1 |
15-43020202-C-A | c.2898G>T | p.V966= | Synonymous | 22/28 | - | 1 |
15-43020202-C-G | c.2898G>C | p.V966= | Synonymous | 22/28 | - | 1 |
15-43020202-C-T | c.2898G>A | p.V966= | Synonymous | 22/28 | - | 1 |
15-43020204-C-T | c.2896G>A | p.V966M | Missense | 22/28 | - | 2 |
15-43020207-C-T | c.2893G>A | p.A965T | Missense | 22/28 | - | 1 |
15-43020212-T-C | c.2888A>G | p.N963S | Missense | 22/28 | - | 2 |
15-43020218-G-A | c.2882C>T | p.A961V | Missense | 22/28 | - | 1 |
15-43020226-C-T | c.2874G>A | p.L958= | Synonymous | 22/28 | - | 1 |
15-43020231-C-T | c.2869G>A | p.V957I | Missense | 22/28 | - | 1 |
15-43020236-G-A | c.2869-5C>T | - | IntronicSNV | - | 21/27 | 1 |
15-43020365-G-A | c.2868+37C>T | - | IntronicSNV | - | 21/27 | 1 |
15-43020389-C-A | c.2868+13G>T | - | IntronicSNV | - | 21/27 | 1 |
15-43020395-CACGT-C | c.2868+3_2868+6del | - | IntronicDeletion | 21/28 | 21/27 | 3 |
15-43020406-G-A | c.2864C>T | p.A955V | Missense | 21/28 | - | 1 |
15-43020407-C-G | c.2863G>C | p.A955P | Missense | 21/28 | - | 1 |
15-43020408-C-T | c.2862G>A | p.P954= | Synonymous | 21/28 | - | 1 |
15-43020409-G-A | c.2861C>T | p.P954L | Missense | 21/28 | - | 2 |
15-43020410-G-A | c.2860C>T | p.P954S | Missense | 21/28 | - | 1 |
15-43020412-G-C | c.2858C>G | p.T953S | Missense | 21/28 | - | 1 |
15-43020419-C-A | c.2851G>T | p.E951* | Nonsense | 21/28 | - | 1 |
15-43020421-G-A | c.2849C>T | p.P950L | Missense | 21/28 | - | 1 |
15-43020431-C-G | c.2839G>C | p.A947P | Missense | 21/28 | - | 1 |
15-43020433-CG-AT | c.2836_2837delinsAT | p.R946M | Missense | 21/28 | - | 1 |
15-43020433-C-T | c.2837G>A | p.R946Q | Missense | 21/28 | - | 1 |
15-43020434-G-A | c.2836C>T | p.R946W | Missense | 21/28 | - | 7 |
15-43020437-C-T | c.2833G>A | p.V945M | Missense | 21/28 | - | 1 |
15-43020439-G-C | c.2831C>G | p.A944G | Missense | 21/28 | - | 2 |
15-43020440-C-A | c.2830G>T | p.A944S | Missense | 21/28 | - | 2 |
15-43020443-C-G | c.2827G>C | p.G943R | Missense | 21/28 | - | 1 |
15-43020443-C-T | c.2827G>A | p.G943R | Missense | 21/28 | - | 1 |
15-43020446-G-A | c.2824C>T | p.P942S | Missense | 21/28 | - | 1 |
15-43020454-C-A | c.2816G>T | p.R939M | Missense | 21/28 | - | 1 |
15-43020459-A-G | c.2811T>C | p.C937= | Synonymous | 21/28 | - | 1 |
15-43020594-C-T | c.2805-129G>A | - | IntronicSNV | - | 20/27 | 2 |
15-43020850-T-C | c.2804A>G | p.E935G | Missense | 20/28 | - | 2 |
15-43020851-C-G | c.2803G>C | p.E935Q | Missense | 20/28 | - | 1 |
15-43020852-C-T | c.2802G>A | p.R934= | Synonymous | 20/28 | - | 1 |
15-43020853-C-T | c.2801G>A | p.R934Q | Missense | 20/28 | - | 1 |
15-43020854-G-A | c.2800C>T | p.R934W | Missense | 20/28 | - | 2 |
15-43020858-CAG-GAT | c.2794_2796delinsATC | p.L932I | Missense | 20/28 | - | 1 |
15-43020859-A-C | c.2795T>G | p.L932R | Missense | 20/28 | - | 1 |
15-43020862-G-A | c.2792C>T | p.A931V | Missense | 20/28 | - | 1 |
15-43020871-CT-C | c.2783del | p.Q928Rfs*31 | Frameshift | 20/28 | - | 2 |
15-43020875-C-G | c.2779G>C | p.A927P | Missense | 20/28 | - | 1 |
15-43020877-C-T | c.2777G>A | p.G926E | Missense | 20/28 | - | 2 |
15-43020878-C-G | c.2776G>C | p.G926R | Missense | 20/28 | - | 3 |
15-43020878-C-T | c.2776G>A | p.G926R | Missense | 20/28 | - | 4 |
15-43020879-G-A | c.2775C>T | p.H925= | Synonymous | 20/28 | - | 3 |
15-43020879-G-C | c.2775C>G | p.H925Q | Missense | 20/28 | - | 1 |
15-43020881-G-A | c.2773C>T | p.H925Y | Missense | 20/28 | - | 1 |
15-43020883-G-C | c.2771C>G | p.P924R | Missense | 20/28 | - | 1 |
15-43020883-G-T | c.2771C>A | p.P924H | Missense | 20/28 | - | 1 |
15-43020884-G-A | c.2770C>T | p.P924S | Missense | 20/28 | - | 1 |
15-43020890-G-T | c.2764C>A | p.L922M | Missense | 20/28 | - | 1 |
15-43020891-C-A | c.2763G>T | p.Q921H | Missense | 20/28 | - | 1 |
15-43020891-C-G | c.2763G>C | p.Q921H | Missense | 20/28 | - | 1 |
15-43020894-G-A | c.2760C>T | p.S920= | Synonymous | 20/28 | - | 1 |
15-43020899-A-G | c.2755T>C | p.C919R | Missense | 20/28 | - | 1 |
15-43020903-G-A | c.2751C>T | p.I917= | Synonymous | 20/28 | - | 1 |
15-43020903-G-T | c.2751C>A | p.I917= | Synonymous | 20/28 | - | 1 |
15-43020904-A-C | c.2750T>G | p.I917S | Missense | 20/28 | - | 1 |
15-43020908-C-T | c.2746G>A | p.E916K | Missense | 20/28 | - | 1 |
15-43020907-TC-T | c.2746del | p.E916Rfs*43 | Frameshift | 20/28 | - | 1 |
15-43020920-C-A | c.2734G>T | p.A912S | Missense | 20/28 | - | 1 |
15-43020923-G-C | c.2731C>G | p.P911A | Missense | 20/28 | - | 3 |
15-43020925-T-C | c.2729A>G | p.D910G | Missense | 20/28 | - | 1 |
15-43020929-C-G | c.2725G>C | p.G909R | Missense | 20/28 | - | 1 |
15-43020929-C-T | c.2725G>A | p.G909R | Missense | 20/28 | - | 3 |
15-43020931-C-T | c.2723G>A | p.G908E | Missense | 20/28 | - | 1 |
15-43020932-C-G | c.2722G>C | p.G908R | Missense | 20/28 | - | 16 |
15-43020932-C-T | c.2722G>A | p.G908R | Missense | 20/28 | - | 16 |
15-43020943-T-G | c.2711A>C | p.Q904P | Missense | 20/28 | - | 1 |
15-43020950-C-A | c.2704G>T | p.V902L | Missense | 20/28 | - | 4 |
15-43020950-C-G | c.2704G>C | p.V902L | Missense | 20/28 | - | 2 |
15-43020968-G-A | c.2686C>T | p.L896F | Missense | 20/28 | - | 1 |
15-43020977-C-T | c.2677G>A | p.A893T | Missense | 20/28 | - | 1 |
15-43020982-C-A | c.2672G>T | p.R891L | Missense | 20/28 | - | 1 |
15-43020982-C-T | c.2672G>A | p.R891H | Missense | 20/28 | - | 2 |
15-43020983-G-A | c.2671C>T | p.R891C | Missense | 20/28 | - | 35 |
15-43020987-C-A | c.2667G>T | p.L889= | Synonymous | 20/28 | - | 1 |
15-43020987-CAG-GAT | c.2665_2667delinsATC | p.L889I | Missense | 20/28 | - | 1 |
15-43020988-A-C | c.2666T>G | p.L889R | Missense | 20/28 | - | 1 |
15-43020990-A-C | c.2664T>G | p.D888E | Missense | 20/28 | - | 2 |
15-43020990-A-T | c.2664T>A | p.D888E | Missense | 20/28 | - | 1 |
15-43020992-C-G | c.2662G>C | p.D888H | Missense | 20/28 | - | 1 |
15-43020994-G-A | c.2660C>T | p.A887V | Missense | 20/28 | - | 1 |
15-43020998-C-T | c.2656G>A | p.V886M | Missense | 20/28 | - | 1 |
15-43021004-T-C | c.2650A>G | p.T884A | Missense | 20/28 | - | 1 |
15-43021004-T-G | c.2650A>C | p.T884P | Missense | 20/28 | - | 1 |
15-43021058-G-A | c.2646-50C>T | - | IntronicSNV | - | 19/27 | 2 |
15-43021218-T-TA | c.2645+2dup | - | SpliceDonorInsertion | - | 19/27 | 1 |
15-43021222-T-G | c.2644A>C | p.K882Q | Missense | 19/28 | - | 1 |
15-43021228-G-A | c.2638C>T | p.H880Y | Missense | 19/28 | - | 2 |
15-43021230-T-G | c.2636A>C | p.K879T | Missense | 19/28 | - | 1 |
15-43021241-T-A | c.2625A>T | p.S875= | Synonymous | 19/28 | - | 1 |
15-43021241-T-C | c.2625A>G | p.S875= | Synonymous | 19/28 | - | 1 |
15-43021241-T-G | c.2625A>C | p.S875= | Synonymous | 19/28 | - | 1 |
15-43021246-C-G | c.2620G>C | p.G874R | Missense | 19/28 | - | 1 |
15-43021246-C-T | c.2620G>A | p.G874R | Missense | 19/28 | - | 1 |
15-43021249-T-G | c.2617A>C | p.I873L | Missense | 19/28 | - | 2 |
15-43021251-C-A | c.2615G>T | p.R872I | Missense | 19/28 | - | 2 |
15-43021257-G-A | c.2609C>T | p.A870V | Missense | 19/28 | - | 2 |
15-43021258-C-A | c.2608G>T | p.A870S | Missense | 19/28 | - | 1 |
15-43021258-C-T | c.2608G>A | p.A870T | Missense | 19/28 | - | 1 |
15-43021261-C-T | c.2605G>A | p.V869M | Missense | 19/28 | - | 4 |
15-43021262-G-A | c.2604C>T | p.F868= | Synonymous | 19/28 | - | 6 |
15-43021264-A-T | c.2602T>A | p.F868I | Missense | 19/28 | - | 2 |
15-43021270-C-T | c.2596G>A | p.V866I | Missense | 19/28 | - | 4 |
15-43021270-C-CG | c.2595dup | p.V866Rfs*138 | Frameshift | 19/28 | - | 1 |
15-43021275-C-A | c.2591G>T | p.R864L | Missense | 19/28 | - | 2 |
15-43021275-C-T | c.2591G>A | p.R864Q | Missense | 19/28 | - | 1 |
15-43021278-C-A | c.2588G>T | p.R863L | Missense | 19/28 | - | 1 |
15-43021278-C-T | c.2588G>A | p.R863H | Missense | 19/28 | - | 1 |
15-43021279-G-A | c.2587C>T | p.R863C | Missense | 19/28 | - | 4 |
15-43021281-A-G | c.2585T>C | p.L862S | Missense | 19/28 | - | 1 |
15-43021284-G-A | c.2582C>T | p.S861F | Missense | 19/28 | - | 1 |
15-43021288-G-T | c.2578C>A | p.P860T | Missense | 19/28 | - | 2 |
15-43021289-C-T | c.2577G>A | p.P859= | Synonymous | 19/28 | - | 1 |
15-43021290-G-A | c.2576C>T | p.P859L | Missense | 19/28 | - | 1 |
15-43021289-CG-C | c.2576del | p.P859Rfs*8 | Frameshift | 19/28 | - | 1 |
15-43021296-T-C | c.2570A>G | p.N857S | Missense | 19/28 | - | 2 |
15-43021302-A-G | c.2564T>C | p.F855S | Missense | 19/28 | - | 1 |
15-43021301-GA-G | c.2564del | p.F855Sfs*12 | Frameshift | 19/28 | - | 1 |
15-43021308-G-A | c.2558C>T | p.A853V | Missense | 19/28 | - | 2 |
15-43021312-G-A | c.2554C>T | p.Q852* | Nonsense | 19/28 | - | 1 |
15-43021314-G-A | c.2552C>T | p.A851V | Missense | 19/28 | - | 1 |
15-43021315-C-T | c.2551G>A | p.A851T | Missense | 19/28 | - | 1 |
15-43021376-G-C | c.2541+51C>G | - | IntronicSNV | - | 18/27 | 1 |
15-43021382-A-C | c.2541+45T>G | - | IntronicSNV | - | 18/27 | 1 |
15-43021383-A-C | c.2541+44T>G | - | IntronicSNV | - | 18/27 | 1 |
15-43021391-T-C | c.2541+36A>G | - | IntronicSNV | - | 18/27 | 2 |
15-43021394-T-A | c.2541+33A>T | - | IntronicSNV | - | 18/27 | 1 |
15-43021429-G-A | c.2539C>T | p.Q847* | Nonsense | 18/28 | - | 2 |
15-43021434-C-G | c.2534G>C | p.G845A | Missense | 18/28 | - | 1 |
15-43021434-C-T | c.2534G>A | p.G845E | Missense | 18/28 | - | 1 |
15-43021435-C-G | c.2533G>C | p.G845R | Missense | 18/28 | - | 1 |
15-43021435-C-T | c.2533G>A | p.G845R | Missense | 18/28 | - | 1 |
15-43021437-T-C | c.2531A>G | p.Q844R | Missense | 18/28 | - | 2 |
15-43021439-G-C | c.2529C>G | p.S843R | Missense | 18/28 | - | 1 |
15-43021439-G-T | c.2529C>A | p.S843R | Missense | 18/28 | - | 1 |
15-43021441-T-G | c.2527A>C | p.S843R | Missense | 18/28 | - | 1 |
15-43021442-G-A | c.2526C>T | p.T842= | Synonymous | 18/28 | - | 1 |
15-43021443-G-A | c.2525C>T | p.T842I | Missense | 18/28 | - | 1 |
15-43021444-T-C | c.2524A>G | p.T842A | Missense | 18/28 | - | 1 |
15-43021446-T-A | c.2522A>T | p.Q841L | Missense | 18/28 | - | 1 |
15-43021458-G-A | c.2510C>T | p.A837V | Missense | 18/28 | - | 1 |
15-43021458-G-T | c.2510C>A | p.A837D | Missense | 18/28 | - | 1 |
15-43021465-G-A | c.2503C>T | p.L835= | Synonymous | 18/28 | - | 1 |
15-43021472-G-A | c.2496C>T | p.T832= | Synonymous | 18/28 | - | 1 |
15-43021473-G-A | c.2495C>T | p.T832I | Missense | 18/28 | - | 2 |
15-43021476-GT-CA | c.2491_2492delinsTG | p.T831C | Missense | 18/28 | - | 1 |
15-43021486-T-G | c.2482A>C | p.T828P | Missense | 18/28 | - | 3 |
15-43021505-C-A | c.2463G>T | p.G821= | Synonymous | 18/28 | - | 1 |
15-43021505-C-G | c.2463G>C | p.G821= | Synonymous | 18/28 | - | 1 |
15-43021505-C-T | c.2463G>A | p.G821= | Synonymous | 18/28 | - | 2 |
15-43021512-C-T | c.2456G>A | p.R819Q | Missense | 18/28 | - | 1 |
15-43021518-CT-AA | c.2449_2450delinsTT | p.S817F | Missense | 18/28 | - | 1 |
15-43021520-A-G | c.2448T>C | p.S816= | Synonymous | 18/28 | - | 1 |
15-43021527-G-A | c.2441C>T | p.S814L | Missense | 18/28 | - | 1 |
15-43021535-C-G | c.2433G>C | p.S811= | Synonymous | 18/28 | - | 1 |
15-43021535-C-T | c.2433G>A | p.S811= | Synonymous | 18/28 | - | 3 |
15-43021536-G-A | c.2432C>T | p.S811L | Missense | 18/28 | - | 5 |
15-43021540-C-G | c.2428G>C | p.A810P | Missense | 18/28 | - | 1 |
15-43021540-C-T | c.2428G>A | p.A810T | Missense | 18/28 | - | 1 |
15-43021546-G-A | c.2422C>T | p.L808= | Synonymous | 18/28 | - | 1 |
15-43021550-C-T | c.2418G>A | p.R806= | Synonymous | 18/28 | - | 1 |
15-43021551-C-T | c.2417G>A | p.R806Q | Missense | 18/28 | - | 2 |
15-43021552-G-A | c.2416C>T | p.R806W | Missense | 18/28 | - | 2 |
15-43021552-G-T | c.2416C>A | p.R806= | Synonymous | 18/28 | - | 2 |
15-43021553-G-A | c.2415C>T | p.L805= | Synonymous | 18/28 | - | 1 |
15-43021563-G-A | c.2408-3C>T | - | IntronicSNV | - | 17/27 | 14 |
15-43021563-G-T | c.2408-3C>A | - | IntronicSNV | - | 17/27 | 14 |
15-43021628-C-T | c.2408-68G>A | - | IntronicSNV | - | 17/27 | 8 |
15-43021764-AC-A | c.2407+1del | - | Frameshift | 17/28 | - | 1 |
15-43021766-C-A | c.2407G>T | p.G803* | Nonsense | 17/28 | - | 1 |
15-43021776-G-A | c.2397C>T | p.C799= | Synonymous | 17/28 | - | 1 |
15-43021780-C-A | c.2393G>T | p.C798F | Missense | 17/28 | - | 1 |
15-43021785-G-A | c.2388C>T | p.Y796= | Synonymous | 17/28 | - | 1 |
15-43021788-G-A | c.2385C>T | p.L795= | Synonymous | 17/28 | - | 1 |
15-43021788-G-C | c.2385C>G | p.L795= | Synonymous | 17/28 | - | 1 |
15-43021788-G-T | c.2385C>A | p.L795= | Synonymous | 17/28 | - | 1 |
15-43021811-G-A | c.2362C>T | p.P788S | Missense | 17/28 | - | 3 |
15-43021813-G-A | c.2360C>T | p.A787V | Missense | 17/28 | - | 4 |
15-43021816-T-C | c.2357A>G | p.N786S | Missense | 17/28 | - | 1 |
15-43021908-C-T | c.2352+86G>A | - | IntronicSNV | - | 16/27 | 2 |
15-43021986-G-A | c.2352+8C>T | - | IntronicSNV | - | 16/27 | 13 |
15-43021986-G-C | c.2352+8C>G | - | IntronicSNV | - | 16/27 | 6 |
15-43022001-T-C | c.2345A>G | p.H782R | Missense | 16/28 | - | 1 |
15-43022005-C-G | c.2341G>C | p.E781Q | Missense | 16/28 | - | 1 |
15-43022008-G-A | c.2338C>T | p.P780S | Missense | 16/28 | - | 1 |
15-43022011-C-T | c.2335G>A | p.A779T | Missense | 16/28 | - | 1 |
15-43022017-T-C | c.2329A>G | p.T777A | Missense | 16/28 | - | 1 |
15-43022019-T-C | c.2327A>G | p.D776G | Missense | 16/28 | - | 1 |
15-43022029-A-G | c.2317T>C | p.F773L | Missense | 16/28 | - | 1 |
15-43022040-G-A | c.2306C>T | p.P769L | Missense | 16/28 | - | 1 |
15-43022043-C-T | c.2303G>A | p.G768D | Missense | 16/28 | - | 1 |
15-43022044-C-T | c.2302G>A | p.G768S | Missense | 16/28 | - | 1 |
15-43022047-C-T | c.2299G>A | p.E767K | Missense | 16/28 | - | 1 |
15-43022054-A-G | c.2292T>C | p.F764= | Synonymous | 16/28 | - | 1 |
15-43022057-G-C | c.2289C>G | p.F763L | Missense | 16/28 | - | 1 |
15-43022057-G-T | c.2289C>A | p.F763L | Missense | 16/28 | - | 1 |
15-43022059-A-G | c.2287T>C | p.F763L | Missense | 16/28 | - | 1 |
15-43022061-A-G | c.2285T>C | p.L762S | Missense | 16/28 | - | 1 |
15-43022062-A-C | c.2284T>G | p.L762V | Missense | 16/28 | - | 1 |
15-43022064-T-C | c.2282A>G | p.D761G | Missense | 16/28 | - | 1 |
15-43022068-C-T | c.2278G>A | p.E760K | Missense | 16/28 | - | 2 |
15-43022071-G-A | c.2275C>T | p.P759S | Missense | 16/28 | - | 1 |
15-43022072-G-A | c.2274C>T | p.V758= | Synonymous | 16/28 | - | 1 |
15-43022080-G-T | c.2266C>A | p.P756T | Missense | 16/28 | - | 1 |
15-43022126-A-C | c.2263-43T>G | - | IntronicSNV | - | 15/27 | 1 |
15-43022252-G-A | c.2262+74C>T | - | IntronicSNV | - | 15/27 | 1 |
15-43022310-C-A | c.2262+16G>T | - | IntronicSNV | - | 15/27 | 1 |
15-43022310-C-T | c.2262+16G>A | - | IntronicSNV | - | 15/27 | 1 |
15-43022340-C-A | c.2248G>T | p.G750C | Missense | 15/28 | - | 1 |
15-43022340-C-T | c.2248G>A | p.G750S | Missense | 15/28 | - | 1 |
15-43022366-T-C | c.2222A>G | p.N741S | Missense | 15/28 | - | 1 |
15-43022371-G-A | c.2217C>T | p.F739= | Synonymous | 15/28 | - | 1 |
15-43022383-C-G | c.2205G>C | p.G735= | Synonymous | 15/28 | - | 1 |
15-43022384-C-G | c.2204G>C | p.G735A | Missense | 15/28 | - | 1 |
15-43022388-C-A | c.2200G>T | p.E734* | Nonsense | 15/28 | - | 1 |
15-43022392-C-G | c.2196G>C | p.E732D | Missense | 15/28 | - | 1 |
15-43022394-C-T | c.2194G>A | p.E732K | Missense | 15/28 | - | 1 |
15-43022399-G-A | c.2189C>T | p.S730L | Missense | 15/28 | - | 1 |
15-43022403-A-C | c.2185T>G | p.L729V | Missense | 15/28 | - | 1 |
15-43022407-C-A | c.2181G>T | p.L727F | Missense | 15/28 | - | 1 |
15-43022529-T-C | c.2175-116A>G | - | IntronicSNV | - | 14/27 | 2 |
15-43022690-C-A | c.2174+106G>T | - | IntronicSNV | - | 14/27 | 5 |
15-43022690-C-G | c.2174+106G>C | - | IntronicSNV | - | 14/27 | 3 |
15-43022729-A-G | c.2174+67T>C | - | IntronicSNV | - | 14/27 | 1 |
15-43022790-CA-C | c.2174+6del | - | IntronicDeletion | - | 14/27 | 1 |
15-43022796-C-T | c.2174G>A | p.R725Q | Missense | 14/28 | - | 2 |
15-43022797-G-A | c.2173C>T | p.R725W | Missense | 14/28 | - | 3 |
15-43022806-G-A | c.2164C>T | p.R722C | Missense | 14/28 | - | 6 |
15-43022811-A-G | c.2159T>C | p.L720P | Missense | 14/28 | - | 2 |
15-43022815-G-T | c.2155C>A | p.L719I | Missense | 14/28 | - | 1 |
15-43022827-C-T | c.2143G>A | p.D715N | Missense | 14/28 | - | 3 |
15-43022829-C-T | c.2141G>A | p.R714Q | Missense | 14/28 | - | 3 |
15-43022830-G-A | c.2140C>T | p.R714W | Missense | 14/28 | - | 11 |
15-43022832-T-G | c.2138A>C | p.Y713S | Missense | 14/28 | - | 1 |
15-43022839-C-T | c.2131G>A | p.E711K | Missense | 14/28 | - | 1 |
15-43022843-GCAA-G | c.2125_2127del | p.L710del | InFrameDeletion | 14/28 | - | 1 |
15-43022854-C-T | c.2116G>A | p.V706I | Missense | 14/28 | - | 1 |
15-43022862-G-A | c.2108C>T | p.A703V | Missense | 14/28 | - | 2 |
15-43022867-G-A | c.2103C>T | p.S701= | Synonymous | 14/28 | - | 2 |
15-43022867-G-C | c.2103C>G | p.S701= | Synonymous | 14/28 | - | 2 |
15-43022867-G-T | c.2103C>A | p.S701= | Synonymous | 14/28 | - | 2 |
15-43022874-A-C | c.2096T>G | p.F699C | Missense | 14/28 | - | 3 |
15-43022877-T-A | c.2093A>T | p.E698V | Missense | 14/28 | - | 1 |
15-43022878-C-T | c.2092G>A | p.E698K | Missense | 14/28 | - | 2 |
15-43022880-A-C | c.2090T>G | p.V697G | Missense | 14/28 | - | 2 |
15-43022882-C-T | c.2088G>A | p.L696= | Synonymous | 14/28 | - | 1 |
15-43022883-A-G | c.2087T>C | p.L696P | Missense | 14/28 | - | 1 |
15-43022884-G-A | c.2086C>T | p.L696= | Synonymous | 14/28 | - | 1 |
15-43022889-G-A | c.2081C>T | p.P694L | Missense | 14/28 | - | 1 |
15-43022892-A-G | c.2078T>C | p.V693A | Missense | 14/28 | - | 1 |
15-43022894-G-A | c.2076C>T | p.T692= | Synonymous | 14/28 | - | 3 |
15-43022894-G-C | c.2076C>G | p.T692= | Synonymous | 14/28 | - | 1 |
15-43022894-G-T | c.2076C>A | p.T692= | Synonymous | 14/28 | - | 1 |
15-43022897-G-GA | c.2072dup | p.T692Hfs*13 | Frameshift | 14/28 | - | 1 |
15-43022904-G-A | c.2066C>T | p.A689V | Missense | 14/28 | - | 1 |
15-43022904-G-T | c.2066C>A | p.A689E | Missense | 14/28 | - | 1 |
15-43022905-C-T | c.2065G>A | p.A689T | Missense | 14/28 | - | 1 |
15-43022906-CCG-ACA | c.2062_2064delinsTGT | p.R688C | Missense | 14/28 | - | 1 |
15-43022907-C-T | c.2063G>A | p.R688Q | Missense | 14/28 | - | 1 |
15-43022908-G-A | c.2062C>T | p.R688W | Missense | 14/28 | - | 3 |
15-43022911-G-A | c.2059C>T | p.R687C | Missense | 14/28 | - | 4 |
15-43022914-C-A | c.2056G>T | p.A686S | Missense | 14/28 | - | 1 |
15-43022914-C-T | c.2056G>A | p.A686T | Missense | 14/28 | - | 1 |
15-43022916-T-A | c.2054A>T | p.Q685L | Missense | 14/28 | - | 1 |
15-43022920-G-C | c.2050C>G | p.L684V | Missense | 14/28 | - | 1 |
15-43022921-C-T | c.2049G>A | p.G683= | Synonymous | 14/28 | - | 1 |
15-43022922-C-G | c.2048G>C | p.G683A | Missense | 14/28 | - | 1 |
15-43022925-C-T | c.2045G>A | p.R682Q | Missense | 14/28 | - | 5 |
15-43022926-G-A | c.2044C>T | p.R682* | Nonsense | 14/28 | - | 1 |
15-43022932-G-A | c.2038C>T | p.L680= | Synonymous | 14/28 | - | 1 |
15-43022933-C-A | c.2037G>T | p.L679= | Synonymous | 14/28 | - | 2 |
15-43022933-C-G | c.2037G>C | p.L679= | Synonymous | 14/28 | - | 2 |
15-43022933-C-T | c.2037G>A | p.L679= | Synonymous | 14/28 | - | 3 |
15-43022935-G-A | c.2035C>T | p.L679= | Synonymous | 14/28 | - | 2 |
15-43022935-G-C | c.2035C>G | p.L679V | Missense | 14/28 | - | 1 |
15-43022940-C-T | c.2030G>A | p.R677Q | Missense | 14/28 | - | 7 |
15-43022941-G-A | c.2029C>T | p.R677W | Missense | 14/28 | - | 1 |
15-43022951-G-A | c.2019C>T | p.V673= | Synonymous | 14/28 | - | 1 |
15-43022954-C-A | c.2016G>T | p.P672= | Synonymous | 14/28 | - | 1 |
15-43022954-C-G | c.2016G>C | p.P672= | Synonymous | 14/28 | - | 1 |
15-43022954-C-T | c.2016G>A | p.P672= | Synonymous | 14/28 | - | 1 |
15-43022955-G-A | c.2015C>T | p.P672L | Missense | 14/28 | - | 8 |
15-43022956-G-A | c.2014C>T | p.P672S | Missense | 14/28 | - | 1 |
15-43022958-G-A | c.2012C>T | p.P671L | Missense | 14/28 | - | 2 |
15-43022959-G-A | c.2011C>T | p.P671S | Missense | 14/28 | - | 1 |
15-43023121-A-G | c.2007+2T>C | - | IntronicSNV | - | 13/27 | 1 |
15-43023123-C-A | c.2007G>T | p.Q669H | Missense | 13/28 | - | 1 |
15-43023123-C-G | c.2007G>C | p.Q669H | Missense | 13/28 | - | 1 |
15-43023129-C-T | c.2001G>A | p.R667= | Synonymous | 13/28 | - | 1 |
15-43023130-CT-AG | c.1999_2000inv | p.R667L | Missense | 13/28 | - | 1 |
15-43023132-G-A | c.1998C>T | p.L666= | Synonymous | 13/28 | - | 1 |
15-43023132-G-C | c.1998C>G | p.L666= | Synonymous | 13/28 | - | 1 |
15-43023132-G-T | c.1998C>A | p.L666= | Synonymous | 13/28 | - | 1 |
15-43023135-G-A | c.1995C>T | p.A665= | Synonymous | 13/28 | - | 2 |
15-43023135-G-C | c.1995C>G | p.A665= | Synonymous | 13/28 | - | 1 |
15-43023135-G-T | c.1995C>A | p.A665= | Synonymous | 13/28 | - | 1 |
15-43023136-G-T | c.1994C>A | p.A665D | Missense | 13/28 | - | 1 |
15-43023142-A-T | c.1988T>A | p.I663N | Missense | 13/28 | - | 1 |
15-43023149-C-A | c.1981G>T | p.D661Y | Missense | 13/28 | - | 1 |
15-43023151-T-C | c.1979A>G | p.Q660R | Missense | 13/28 | - | 2 |
15-43023155-G-A | c.1975C>T | p.L659F | Missense | 13/28 | - | 5 |
15-43023161-C-A | c.1969G>T | p.G657C | Missense | 13/28 | - | 1 |
15-43023161-C-T | c.1969G>A | p.G657S | Missense | 13/28 | - | 5 |
15-43023163-G-C | c.1967C>G | p.T656S | Missense | 13/28 | - | 6 |
15-43023164-T-A | c.1966A>T | p.T656S | Missense | 13/28 | - | 2 |
15-43023166-G-A | c.1964C>T | p.P655L | Missense | 13/28 | - | 1 |
15-43023168-G-A | c.1962C>T | p.P654= | Synonymous | 13/28 | - | 1 |
15-43023168-G-C | c.1962C>G | p.P654= | Synonymous | 13/28 | - | 1 |
15-43023168-G-T | c.1962C>A | p.P654= | Synonymous | 13/28 | - | 1 |
15-43023171-A-C | c.1959T>G | p.P653= | Synonymous | 13/28 | - | 1 |
15-43023171-A-G | c.1959T>C | p.P653= | Synonymous | 13/28 | - | 1 |
15-43023171-A-T | c.1959T>A | p.P653= | Synonymous | 13/28 | - | 1 |
15-43023181-C-G | c.1949G>C | p.G650A | Missense | 13/28 | - | 1 |
15-43023182-C-A | c.1948G>T | p.G650W | Missense | 13/28 | - | 1 |
15-43023185-G-A | c.1945C>T | p.R649W | Missense | 13/28 | - | 4 |
15-43023191-G-A | c.1939C>T | p.P647S | Missense | 13/28 | - | 1 |
15-43023192-C-A | c.1938G>T | p.L646= | Synonymous | 13/28 | - | 1 |
15-43023192-C-G | c.1938G>C | p.L646= | Synonymous | 13/28 | - | 1 |
15-43023192-C-T | c.1938G>A | p.L646= | Synonymous | 13/28 | - | 1 |
15-43023194-G-A | c.1936C>T | p.L646= | Synonymous | 13/28 | - | 1 |
15-43023193-A-AG | c.1936dup | p.L646Pfs*7 | Frameshift | 13/28 | - | 2 |
15-43023195-G-A | c.1935C>T | p.F645= | Synonymous | 13/28 | - | 1 |
15-43023196-A-G | c.1934T>C | p.F645S | Missense | 13/28 | - | 1 |
15-43023204-A-C | c.1926T>G | p.F642L | Missense | 13/28 | - | 1 |
15-43023204-A-T | c.1926T>A | p.F642L | Missense | 13/28 | - | 1 |
15-43023206-A-G | c.1924T>C | p.F642L | Missense | 13/28 | - | 1 |
15-43023208-C-T | c.1922G>A | p.G641D | Missense | 13/28 | - | 1 |
15-43023212-G-C | c.1918C>G | p.L640V | Missense | 13/28 | - | 1 |
15-43023221-C-T | c.1909G>A | p.A637T | Missense | 13/28 | - | 1 |
15-43023229-C-T | c.1901G>A | p.R634K | Missense | 13/28 | - | 1 |
15-43023229-CT-TG | c.1900_1901delinsCA | p.R634Q | Missense | 13/28 | - | 1 |
15-43023242-G-A | c.1888C>T | p.L630F | Missense | 13/28 | - | 2 |
15-43023242-G-C | c.1888C>G | p.L630V | Missense | 13/28 | - | 1 |
15-43023247-A-C | c.1883T>G | p.V628G | Missense | 13/28 | - | 3 |
15-43023250-G-A | c.1880C>T | p.A627V | Missense | 13/28 | - | 1 |
15-43023262-C-T | c.1868G>A | p.R623Q | Missense | 13/28 | - | 1 |
15-43023263-G-A | c.1867C>T | p.R623W | Missense | 13/28 | - | 1 |
15-43023268-C-T | c.1862G>A | p.G621D | Missense | 13/28 | - | 1 |
15-43023269-C-A | c.1861G>T | p.G621C | Missense | 13/28 | - | 1 |
15-43023269-C-T | c.1861G>A | p.G621S | Missense | 13/28 | - | 2 |
15-43023304-A-C | c.1861-35T>G | - | IntronicSNV | - | 12/27 | 6 |
15-43023304-A-G | c.1861-35T>C | - | IntronicSNV | - | 12/27 | 6 |
15-43023404-C-T | c.1860+5G>A | - | IntronicSNV | - | 12/27 | 2 |
15-43023407-A-C | c.1860+2T>G | - | IntronicSNV | - | 12/27 | 1 |
15-43023418-TAC-AAA | c.1849_1851delinsTTT | p.V617F | Missense | 12/28 | - | 2 |
15-43023420-C-A | c.1849G>T | p.V617L | Missense | 12/28 | - | 1 |
15-43023420-C-T | c.1849G>A | p.V617I | Missense | 12/28 | - | 1 |
15-43023430-C-A | c.1839G>T | p.G613= | Synonymous | 12/28 | - | 1 |
15-43023432-C-A | c.1837G>T | p.G613W | Missense | 12/28 | - | 1 |
15-43023433-G-A | c.1836C>T | p.D612= | Synonymous | 12/28 | - | 1 |
15-43023436-T-G | c.1833A>C | p.E611D | Missense | 12/28 | - | 1 |
15-43023439-A-G | c.1830T>C | p.D610= | Synonymous | 12/28 | - | 1 |
15-43023439-A-T | c.1830T>A | p.D610E | Missense | 12/28 | - | 1 |
15-43023443-T-C | c.1826A>G | p.N609S | Missense | 12/28 | - | 3 |
15-43023450-C-T | c.1819G>A | p.E607K | Missense | 12/28 | - | 1 |
15-43023454-C-T | c.1815G>A | p.Q605= | Synonymous | 12/28 | - | 2 |
15-43023455-T-C | c.1814A>G | p.Q605R | Missense | 12/28 | - | 2 |
15-43023458-G-A | c.1811C>T | p.P604L | Missense | 12/28 | - | 1 |
15-43023460-C-A | c.1809G>T | p.L603= | Synonymous | 12/28 | - | 1 |
15-43023460-C-G | c.1809G>C | p.L603= | Synonymous | 12/28 | - | 1 |
15-43023460-C-T | c.1809G>A | p.L603= | Synonymous | 12/28 | - | 1 |
15-43023462-G-A | c.1807C>T | p.L603= | Synonymous | 12/28 | - | 1 |
15-43023463-G-A | c.1806C>T | p.A602= | Synonymous | 12/28 | - | 1 |
15-43023464-G-T | c.1805C>A | p.A602D | Missense | 12/28 | - | 1 |
15-43023473-T-C | c.1796A>G | p.N599S | Missense | 12/28 | - | 6 |
15-43023479-T-G | c.1790A>C | p.E597A | Missense | 12/28 | - | 1 |
15-43023480-C-T | c.1789G>A | p.E597K | Missense | 12/28 | - | 1 |
15-43023481-C-A | c.1788G>T | p.Q596H | Missense | 12/28 | - | 1 |
15-43023481-C-G | c.1788G>C | p.Q596H | Missense | 12/28 | - | 1 |
15-43023481-C-T | c.1788G>A | p.Q596= | Synonymous | 12/28 | - | 1 |
15-43023482-T-A | c.1787A>T | p.Q596L | Missense | 12/28 | - | 1 |
15-43023482-T-C | c.1787A>G | p.Q596R | Missense | 12/28 | - | 39 |
15-43023487-C-T | c.1782G>A | p.K594= | Synonymous | 12/28 | - | 1 |
15-43023498-G-A | c.1771C>T | p.L591= | Synonymous | 12/28 | - | 1 |
15-43023504-C-T | c.1765G>A | p.D589N | Missense | 12/28 | - | 1 |
15-43023506-A-G | c.1763T>C | p.M588T | Missense | 12/28 | - | 1 |
15-43023510-G-A | c.1759C>T | p.L587F | Missense | 12/28 | - | 1 |
15-43023512-T-C | c.1757A>G | p.H586R | Missense | 12/28 | - | 1 |
15-43023515-T-C | c.1754A>G | p.Q585R | Missense | 12/28 | - | 1 |
15-43023524-T-C | c.1745A>G | p.Q582R | Missense | 12/28 | - | 2 |
15-43023525-G-A | c.1744C>T | p.Q582* | Nonsense | 12/28 | - | 1 |
15-43023820-G-C | c.1737C>G | p.S579R | Missense | 11/28 | - | 1 |
15-43023821-C-T | c.1736G>A | p.S579N | Missense | 11/28 | - | 1 |
15-43023824-G-A | c.1733C>T | p.A578V | Missense | 11/28 | - | 1 |
15-43023831-G-A | c.1726C>T | p.L576F | Missense | 11/28 | - | 1 |
15-43023833-A-C | c.1724T>G | p.I575S | Missense | 11/28 | - | 2 |
15-43023837-A-G | c.1720T>C | p.F574L | Missense | 11/28 | - | 1 |
15-43023839-T-A | c.1718A>T | p.D573V | Missense | 11/28 | - | 1 |
15-43023841-C-T | c.1716G>A | p.R572= | Synonymous | 11/28 | - | 1 |
15-43023842-C-G | c.1715G>C | p.R572T | Missense | 11/28 | - | 1 |
15-43023852-C-G | c.1705G>C | p.G569R | Missense | 11/28 | - | 3 |
15-43023854-T-C | c.1703A>G | p.Q568R | Missense | 11/28 | - | 1 |
15-43023860-C-A | c.1697G>T | p.G566V | Missense | 11/28 | - | 1 |
15-43023863-G-A | c.1694C>T | p.P565L | Missense | 11/28 | - | 1 |
15-43023867-A-AG | c.1689dup | p.F564Lfs*9 | Frameshift | 11/28 | - | 1 |
15-43023869-G-A | c.1688C>T | p.T563I | Missense | 11/28 | - | 3 |
15-43023870-GT-G | c.1687del | p.T563Pfs*29 | Frameshift | 11/28 | - | 2 |
15-43023870-T-C | c.1687A>G | p.T563A | Missense | 11/28 | - | 1 |
15-43023871-G-C | c.1686C>G | p.P562= | Synonymous | 11/28 | - | 1 |
15-43023871-G-T | c.1686C>A | p.P562= | Synonymous | 11/28 | - | 1 |
15-43023873-G-T | c.1684C>A | p.P562T | Missense | 11/28 | - | 2 |
15-43023870-TG-T | c.1686del | p.T563Pfs*29 | Frameshift | 11/28 | - | 2 |
15-43023876-G-A | c.1681C>T | p.P561S | Missense | 11/28 | - | 1 |
15-43023880-G-A | c.1677C>T | p.C559= | Synonymous | 11/28 | - | 1 |
15-43023884-G-A | c.1673C>T | p.P558L | Missense | 11/28 | - | 2 |
15-43023885-G-T | c.1672C>A | p.P558T | Missense | 11/28 | - | 1 |
15-43023887-C-T | c.1670G>A | p.G557E | Missense | 11/28 | - | 2 |
15-43023885-G-GC | c.1671dup | p.P558Afs*15 | Frameshift | 11/28 | - | 1 |
15-43023895-G-C | c.1662C>G | p.S554R | Missense | 11/28 | - | 1 |
15-43023895-G-T | c.1662C>A | p.S554R | Missense | 11/28 | - | 1 |
15-43023897-T-G | c.1660A>C | p.S554R | Missense | 11/28 | - | 1 |
15-43023908-A-G | c.1649T>C | p.M550T | Missense | 11/28 | - | 3 |
15-43023913-CC-AT | c.1643_1644delinsAT | p.R548H | Missense | 11/28 | - | 1 |
15-43023914-C-T | c.1643G>A | p.R548Q | Missense | 11/28 | - | 2 |
15-43023915-G-A | c.1642C>T | p.R548W | Missense | 11/28 | - | 1 |
15-43023921-G-A | c.1636C>T | p.Q546* | Nonsense | 11/28 | - | 2 |
15-43023923-A-G | c.1634T>C | p.L545P | Missense | 11/28 | - | 1 |
15-43023925-GCG-CCA | c.1630_1632delinsTGG | p.R544W | Missense | 11/28 | - | 1 |
15-43023927-G-A | c.1630C>T | p.R544C | Missense | 11/28 | - | 2 |
15-43023928-C-T | c.1629G>A | p.W543* | Nonsense | 11/28 | - | 1 |
15-43023929-C-T | c.1628G>A | p.W543* | Nonsense | 11/28 | - | 1 |
15-43023935-C-T | c.1622G>A | p.R541Q | Missense | 11/28 | - | 3 |
15-43023936-G-A | c.1621C>T | p.R541W | Missense | 11/28 | - | 3 |
15-43023950-G-C | c.1607C>G | p.A536G | Missense | 11/28 | - | 1 |
15-43023959-A-G | c.1598T>C | p.M533T | Missense | 11/28 | - | 1 |
15-43023960-T-C | c.1597A>G | p.M533V | Missense | 11/28 | - | 1 |
15-43023962-C-T | c.1595G>A | p.S532N | Missense | 11/28 | - | 1 |
15-43023966-ACACATCTGGGGCCTCGCCCAAGACGGTGCCCCCAG-A | c.1556_1590del | p.A519Vfs*7 | Frameshift | 11/28 | - | 1 |
15-43023972-C-A | c.1585G>T | p.D529Y | Missense | 11/28 | - | 1 |
15-43023972-C-G | c.1585G>C | p.D529H | Missense | 11/28 | - | 1 |
15-43023976-G-A | c.1581C>T | p.A527= | Synonymous | 11/28 | - | 1 |
15-43023977-G-A | c.1580C>T | p.A527V | Missense | 11/28 | - | 2 |
15-43023981-C-T | c.1576G>A | p.E526K | Missense | 11/28 | - | 3 |
15-43023983-C-T | c.1574G>A | p.G525D | Missense | 11/28 | - | 1 |
15-43023988-G-C | c.1569C>G | p.V523= | Synonymous | 11/28 | - | 1 |
15-43023991-G-A | c.1566C>T | p.T522= | Synonymous | 11/28 | - | 1 |
15-43023991-G-C | c.1566C>G | p.T522= | Synonymous | 11/28 | - | 1 |
15-43023991-G-T | c.1566C>A | p.T522= | Synonymous | 11/28 | - | 1 |
15-43023996-C-A | c.1561G>T | p.G521C | Missense | 11/28 | - | 1 |
15-43023999-C-A | c.1558G>T | p.G520W | Missense | 11/28 | - | 2 |
15-43024004-C-A | c.1553G>T | p.G518V | Missense | 11/28 | - | 1 |
15-43024004-C-T | c.1553G>A | p.G518D | Missense | 11/28 | - | 1 |
15-43024007-C-G | c.1550G>C | p.G517A | Missense | 11/28 | - | 1 |
15-43024007-C-T | c.1550G>A | p.G517D | Missense | 11/28 | - | 1 |
15-43024010-G-A | c.1547C>T | p.P516L | Missense | 11/28 | - | 1 |
15-43024016-T-C | c.1541A>G | p.Q514R | Missense | 11/28 | - | 1 |
15-43024018-A-C | c.1539T>G | p.C513W | Missense | 11/28 | - | 1 |
15-43024023-T-C | c.1534A>G | p.M512V | Missense | 11/28 | - | 1 |
15-43024063-C-A | c.1534-40G>T | - | IntronicSNV | - | 10/27 | 6 |
15-43024063-C-G | c.1534-40G>C | - | IntronicSNV | - | 10/27 | 6 |
15-43024063-C-T | c.1534-40G>A | - | IntronicSNV | - | 10/27 | 6 |
15-43024068-G-A | c.1534-45C>T | - | IntronicSNV | - | 10/27 | 1 |
15-43024535-A-C | c.1529T>G | p.L510R | Missense | 10/28 | - | 1 |
15-43024536-G-A | c.1528C>T | p.L510F | Missense | 10/28 | - | 2 |
15-43024540-T-C | c.1524A>G | p.Q508= | Synonymous | 10/28 | - | 2 |
15-43024541-T-C | c.1523A>G | p.Q508R | Missense | 10/28 | - | 1 |
15-43024548-G-A | c.1516C>T | p.Q506* | Nonsense | 10/28 | - | 1 |
15-43024549-G-A | c.1515C>T | p.F505= | Synonymous | 10/28 | - | 1 |
15-43024555-CC-AT | c.1508_1509delinsAT | p.R503H | Missense | 10/28 | - | 1 |
15-43024556-C-A | c.1508G>T | p.R503L | Missense | 10/28 | - | 1 |
15-43024556-C-T | c.1508G>A | p.R503Q | Missense | 10/28 | - | 2 |
15-43024557-G-A | c.1507C>T | p.R503W | Missense | 10/28 | - | 3 |
15-43024567-G-T | c.1497C>A | p.S499R | Missense | 10/28 | - | 1 |
15-43024571-T-G | c.1493A>C | p.H498P | Missense | 10/28 | - | 1 |
15-43024574-C-T | c.1490G>A | p.S497N | Missense | 10/28 | - | 1 |
15-43024584-C-T | c.1480G>A | p.A494T | Missense | 10/28 | - | 5 |
15-43024588-G-A | c.1476C>T | p.L492= | Synonymous | 10/28 | - | 1 |
15-43024588-G-C | c.1476C>G | p.L492= | Synonymous | 10/28 | - | 1 |
15-43024588-G-T | c.1476C>A | p.L492= | Synonymous | 10/28 | - | 1 |
15-43024600-C-A | c.1464G>T | p.M488I | Missense | 10/28 | - | 1 |
15-43024600-C-G | c.1464G>C | p.M488I | Missense | 10/28 | - | 1 |
15-43024600-C-T | c.1464G>A | p.M488I | Missense | 10/28 | - | 1 |
15-43024605-C-T | c.1459G>A | p.A487T | Missense | 10/28 | - | 1 |
15-43024606-C-A | c.1458G>T | p.R486S | Missense | 10/28 | - | 1 |
15-43024606-C-G | c.1458G>C | p.R486S | Missense | 10/28 | - | 1 |
15-43025174-T-A | c.1457+121A>T | - | IntronicSNV | - | 9/27 | 5 |
15-43025174-T-C | c.1457+121A>G | - | IntronicSNV | - | 9/27 | 3 |
15-43025209-A-AG | c.1457+85_1457+86insC | - | IntronicInsertion | - | 9/27 | 5 |
15-43025209-A-G | c.1457+86T>C | - | IntronicSNV | - | 9/27 | 1 |
15-43025297-G-A | c.1455C>T | p.I485= | Synonymous | 9/28 | - | 2 |
15-43025300-T-A | c.1452A>T | p.R484S | Missense | 9/28 | - | 1 |
15-43025301-C-T | c.1451G>A | p.R484K | Missense | 9/28 | - | 1 |
15-43025311-A-T | c.1441T>A | p.L481M | Missense | 9/28 | - | 1 |
15-43025316-T-C | c.1436A>G | p.K479R | Missense | 9/28 | - | 1 |
15-43025322-A-G | c.1430T>C | p.F477S | Missense | 9/28 | - | 1 |
15-43025327-C-T | c.1425G>A | p.W475* | Nonsense | 9/28 | - | 2 |
15-43025328-C-T | c.1424G>A | p.W475* | Nonsense | 9/28 | - | 4 |
15-43025345-G-A | c.1407C>T | p.H469= | Synonymous | 9/28 | - | 1 |
15-43025346-T-G | c.1406A>C | p.H469P | Missense | 9/28 | - | 1 |
15-43025349-T-C | c.1403A>G | p.D468G | Missense | 9/28 | - | 1 |
15-43025350-C-G | c.1402G>C | p.D468H | Missense | 9/28 | - | 1 |
15-43025351-T-G | c.1401A>C | p.E467D | Missense | 9/28 | - | 2 |
15-43025353-C-T | c.1399G>A | p.E467K | Missense | 9/28 | - | 1 |
15-43025355-C-T | c.1397G>A | p.W466* | Nonsense | 9/28 | - | 1 |
15-43025359-C-T | c.1393G>A | p.E465K | Missense | 9/28 | - | 1 |
15-43025361-C-T | c.1391G>A | p.R464Q | Missense | 9/28 | - | 1 |
15-43025362-G-A | c.1390C>T | p.R464* | Nonsense | 9/28 | - | 4 |
15-43025371-C-T | c.1381G>A | p.E461K | Missense | 9/28 | - | 1 |
15-43025373-T-C | c.1379A>G | p.Y460C | Missense | 9/28 | - | 1 |
15-43025378-CAC-AAA | c.1372_1374delinsTTT | p.V458F | Missense | 9/28 | - | 1 |
15-43025389-C-T | c.1368-5G>A | - | IntronicSNV | - | 8/27 | 1 |
15-43025399-C-T | c.1368-15G>A | - | IntronicSNV | - | 8/27 | 1 |
15-43025524-T-G | c.1368-140A>C | - | IntronicSNV | - | 8/27 | 3 |
15-43026137-T-C | c.1366A>G | p.R456G | Missense | 8/28 | - | 1 |
15-43026140-G-C | c.1363C>G | p.Q455E | Missense | 8/28 | - | 2 |
15-43026154-T-C | c.1349A>G | p.H450R | Missense | 8/28 | - | 1 |
15-43026155-G-A | c.1348C>T | p.H450Y | Missense | 8/28 | - | 2 |
15-43026160-G-A | c.1343C>T | p.A448V | Missense | 8/28 | - | 2 |
15-43026161-C-T | c.1342G>A | p.A448T | Missense | 8/28 | - | 1 |
15-43026163-C-T | c.1340G>A | p.R447Q | Missense | 8/28 | - | 6 |
15-43026169-C-G | c.1334G>C | p.S445T | Missense | 8/28 | - | 1 |
15-43026175-A-G | c.1328T>C | p.F443S | Missense | 8/28 | - | 1 |
15-43026179-T-C | c.1324A>G | p.N442D | Missense | 8/28 | - | 1 |
15-43026182-C-T | c.1321G>A | p.A441T | Missense | 8/28 | - | 1 |
15-43026184-C-T | c.1319G>A | p.R440H | Missense | 8/28 | - | 1 |
15-43026186-A-C | c.1317T>G | p.N439K | Missense | 8/28 | - | 1 |
15-43026186-A-T | c.1317T>A | p.N439K | Missense | 8/28 | - | 1 |
15-43026195-C-A | c.1308G>T | p.E436D | Missense | 8/28 | - | 1 |
15-43026197-C-T | c.1306G>A | p.E436K | Missense | 8/28 | - | 1 |
15-43026214-G-A | c.1289C>T | p.A430V | Missense | 8/28 | - | 1 |
15-43026217-T-C | c.1286A>G | p.Q429R | Missense | 8/28 | - | 1 |
15-43026218-G-C | c.1285C>G | p.Q429E | Missense | 8/28 | - | 3 |
15-43026223-G-A | c.1280C>T | p.S427F | Missense | 8/28 | - | 2 |
15-43026223-G-C | c.1280C>G | p.S427C | Missense | 8/28 | - | 1 |
15-43026223-G-T | c.1280C>A | p.S427Y | Missense | 8/28 | - | 1 |
15-43026227-G-A | c.1276C>T | p.P426S | Missense | 8/28 | - | 1 |
15-43026228-A-C | c.1275T>G | p.P425= | Synonymous | 8/28 | - | 1 |
15-43026228-A-G | c.1275T>C | p.P425= | Synonymous | 8/28 | - | 2 |
15-43026228-A-T | c.1275T>A | p.P425= | Synonymous | 8/28 | - | 1 |
15-43026230-G-C | c.1273C>G | p.P425A | Missense | 8/28 | - | 1 |
15-43026234-C-G | c.1269G>C | p.V423= | Synonymous | 8/28 | - | 2 |
15-43026238-AG-TA | c.1264_1265delinsTA | p.L422* | Nonsense | 8/28 | - | 1 |
15-43026240-A-AG | c.1262dup | p.L422Sfs*17 | Frameshift | 8/28 | - | 1 |
15-43026237-CAG-C | c.1264_1265del | p.L422Gfs*16 | Frameshift | 8/28 | - | 1 |
15-43026359-C-T | c.1257+65G>A | - | IntronicSNV | - | 7/27 | 1 |
15-43026426-T-A | c.1255A>T | p.K419* | Nonsense | 7/28 | - | 1 |
15-43026431-A-C | c.1250T>G | p.V417G | Missense | 7/28 | - | 3 |
15-43026432-C-T | c.1249G>A | p.V417I | Missense | 7/28 | - | 2 |
15-43026439-C-G | c.1242G>C | p.E414D | Missense | 7/28 | - | 1 |
15-43026441-C-T | c.1240G>A | p.E414K | Missense | 7/28 | - | 1 |
15-43026447-C-G | c.1234G>C | p.A412P | Missense | 7/28 | - | 1 |
15-43026449-G-C | c.1232C>G | p.A411G | Missense | 7/28 | - | 3 |
15-43026450-C-T | c.1231G>A | p.A411T | Missense | 7/28 | - | 1 |
15-43026451-TCG-ACA | c.1228_1230delinsTGT | p.R410C | Missense | 7/28 | - | 1 |
15-43026452-C-G | c.1229G>C | p.R410P | Missense | 7/28 | - | 1 |
15-43026452-CG-TT | c.1228_1229delinsAA | p.R410K | Missense | 7/28 | - | 1 |
15-43026452-C-T | c.1229G>A | p.R410Q | Missense | 7/28 | - | 3 |
15-43026456-G-T | c.1225C>A | p.L409I | Missense | 7/28 | - | 1 |
15-43026457-GC-TT | c.1223_1224delinsAA | p.R408Q | Missense | 7/28 | - | 1 |
15-43026468-G-C | c.1213C>G | p.L405V | Missense | 7/28 | - | 1 |
15-43026473-G-T | c.1208C>A | p.P403Q | Missense | 7/28 | - | 2 |
15-43026474-G-T | c.1207C>A | p.P403T | Missense | 7/28 | - | 2 |
15-43026479-A-C | c.1202T>G | p.F401C | Missense | 7/28 | - | 1 |
15-43026491-C-T | c.1190G>A | p.R397Q | Missense | 7/28 | - | 1 |
15-43026492-G-A | c.1189C>T | p.R397W | Missense | 7/28 | - | 7 |
15-43026495-C-T | c.1186G>A | p.E396K | Missense | 7/28 | - | 1 |
15-43026498-T-C | c.1183A>G | p.N395D | Missense | 7/28 | - | 1 |
15-43026507-G-A | c.1174C>T | p.L392= | Synonymous | 7/28 | - | 1 |
15-43026518-G-A | c.1163C>T | p.T388I | Missense | 7/28 | - | 2 |
15-43026521-C-T | c.1160G>A | p.G387E | Missense | 7/28 | - | 1 |
15-43026529-CA-AT | c.1151_1152delinsAT | p.L384H | Missense | 7/28 | - | 1 |
15-43026533-T-C | c.1148A>G | p.N383S | Missense | 7/28 | - | 1 |
15-43026537-A-G | c.1144T>C | p.S382P | Missense | 7/28 | - | 1 |
15-43026540-G-A | c.1141C>T | p.L381F | Missense | 7/28 | - | 1 |
15-43026540-G-T | c.1141C>A | p.L381I | Missense | 7/28 | - | 1 |
15-43026542-A-G | c.1139T>C | p.V380A | Missense | 7/28 | - | 1 |
15-43026544-C-T | c.1137G>A | p.Q379= | Synonymous | 7/28 | - | 1 |
15-43026625-T-A | c.1137-81A>T | - | IntronicSNV | - | 6/27 | 2 |
15-43026628-C-CT | c.1137-85dup | - | IntronicInsertion | - | 6/27 | 1 |
15-43026892-A-G | c.1137-348T>C | - | IntronicSNV | - | 6/27 | 1 |
15-43027299-G-A | c.1135C>T | p.Q379* | Nonsense | 6/28 | - | 1 |
15-43027300-A-C | c.1134T>G | p.F378L | Missense | 6/28 | - | 1 |
15-43027307-CA-GT | c.1126_1127delinsAC | p.C376T | Missense | 6/28 | - | 1 |
15-43027307-C-T | c.1127G>A | p.C376Y | Missense | 6/28 | - | 1 |
15-43027311-C-T | c.1123G>A | p.E375K | Missense | 6/28 | - | 1 |
15-43027312-C-A | c.1122G>T | p.L374F | Missense | 6/28 | - | 1 |
15-43027312-C-G | c.1122G>C | p.L374F | Missense | 6/28 | - | 1 |
15-43027315-A-C | c.1119T>G | p.V373= | Synonymous | 6/28 | - | 1 |
15-43027316-AACC-A | c.1116_1118del | p.Q372_V373delinsH | MultiAAMissense | 6/28 | - | 1 |
15-43027318-C-A | c.1116G>T | p.Q372H | Missense | 6/28 | - | 1 |
15-43027318-C-G | c.1116G>C | p.Q372H | Missense | 6/28 | - | 1 |
15-43027318-C-T | c.1116G>A | p.Q372= | Synonymous | 6/28 | - | 1 |
15-43027322-A-G | c.1112T>C | p.V371A | Missense | 6/28 | - | 1 |
15-43027323-C-A | c.1111G>T | p.V371L | Missense | 6/28 | - | 1 |
15-43027323-C-G | c.1111G>C | p.V371L | Missense | 6/28 | - | 1 |
15-43027323-C-T | c.1111G>A | p.V371M | Missense | 6/28 | - | 1 |
15-43027330-G-C | c.1104C>G | p.F368L | Missense | 6/28 | - | 1 |
15-43027330-G-T | c.1104C>A | p.F368L | Missense | 6/28 | - | 1 |
15-43027332-A-G | c.1102T>C | p.F368L | Missense | 6/28 | - | 1 |
15-43027335-C-T | c.1099G>A | p.V367I | Missense | 6/28 | - | 1 |
15-43027342-G-A | c.1092C>T | p.H364= | Synonymous | 6/28 | - | 1 |
15-43027343-T-A | c.1091A>T | p.H364L | Missense | 6/28 | - | 1 |
15-43027349-C-T | c.1085G>A | p.S362N | Missense | 6/28 | - | 2 |
15-43027354-G-C | c.1080C>G | p.F360L | Missense | 6/28 | - | 1 |
15-43027354-G-T | c.1080C>A | p.F360L | Missense | 6/28 | - | 1 |
15-43027356-A-G | c.1078T>C | p.F360L | Missense | 6/28 | - | 2 |
15-43027356-A-T | c.1078T>A | p.F360I | Missense | 6/28 | - | 3 |
15-43027362-G-C | c.1072C>G | p.P358A | Missense | 6/28 | - | 1 |
15-43027367-T-C | c.1067A>G | p.E356G | Missense | 6/28 | - | 1 |
15-43027368-C-T | c.1066G>A | p.E356K | Missense | 6/28 | - | 6 |
15-43027370-A-T | c.1064T>A | p.L355Q | Missense | 6/28 | - | 1 |
15-43027370-AG-A | c.1063del | p.L355Wfs*35 | Frameshift | 6/28 | - | 1 |
15-43027375-A-C | c.1059T>G | p.D353E | Missense | 6/28 | - | 2 |
15-43027375-A-T | c.1059T>A | p.D353E | Missense | 6/28 | - | 2 |
15-43027467-G-A | c.1049C>T | p.A350V | Missense | 5/28 | - | 2 |
15-43027468-C-A | c.1048G>T | p.A350S | Missense | 5/28 | - | 1 |
15-43027470-GG-TA | c.1045_1046delinsTA | p.P349* | Nonsense | 5/28 | - | 1 |
15-43027471-G-GT | c.1044_1045insA | p.P349Tfs*46 | Frameshift | 5/28 | - | 1 |
15-43027472-A-T | c.1044T>A | p.S348R | Missense | 5/28 | - | 1 |
15-43027486-C-T | c.1030G>A | p.D344N | Missense | 5/28 | - | 1 |
15-43027493-C-T | c.1023G>A | p.K341= | Synonymous | 5/28 | - | 3 |
15-43027497-G-A | c.1019C>T | p.A340V | Missense | 5/28 | - | 1 |
15-43027500-G-A | c.1016C>T | p.T339I | Missense | 5/28 | - | 1 |
15-43027504-C-A | c.1012G>T | p.V338L | Missense | 5/28 | - | 1 |
15-43027504-C-G | c.1012G>C | p.V338L | Missense | 5/28 | - | 1 |
15-43027505-C-A | c.1011G>T | p.M337I | Missense | 5/28 | - | 1 |
15-43027505-C-G | c.1011G>C | p.M337I | Missense | 5/28 | - | 1 |
15-43027505-C-T | c.1011G>A | p.M337I | Missense | 5/28 | - | 1 |
15-43027511-C-A | c.1005G>T | p.R335= | Synonymous | 5/28 | - | 1 |
15-43027511-C-G | c.1005G>C | p.R335= | Synonymous | 5/28 | - | 1 |
15-43027511-C-T | c.1005G>A | p.R335= | Synonymous | 5/28 | - | 1 |
15-43027513-G-A | c.1003C>T | p.R335W | Missense | 5/28 | - | 2 |
15-43027513-G-T | c.1003C>A | p.R335= | Synonymous | 5/28 | - | 1 |
15-43027515-G-C | c.1001C>G | p.A334G | Missense | 5/28 | - | 1 |
15-43027522-G-A | c.994C>T | p.L332F | Missense | 5/28 | - | 1 |
15-43027526-C-A | c.990G>T | p.Q330H | Missense | 5/28 | - | 1 |
15-43027526-C-G | c.990G>C | p.Q330H | Missense | 5/28 | - | 1 |
15-43027529-A-C | c.987T>G | p.F329L | Missense | 5/28 | - | 1 |
15-43027529-A-T | c.987T>A | p.F329L | Missense | 5/28 | - | 1 |
15-43027531-A-G | c.985T>C | p.F329L | Missense | 5/28 | - | 2 |
15-43027534-C-T | c.982G>A | p.V328I | Missense | 5/28 | - | 2 |
15-43027535-G-A | c.981C>T | p.F327= | Synonymous | 5/28 | - | 2 |
15-43027544-C-A | c.972G>T | p.E324D | Missense | 5/28 | - | 1 |
15-43027544-C-G | c.972G>C | p.E324D | Missense | 5/28 | - | 1 |
15-43027546-C-T | c.970G>A | p.E324K | Missense | 5/28 | - | 1 |
15-43027545-TC-T | c.970del | p.E324Sfs*15 | Frameshift | 5/28 | - | 1 |
15-43027549-A-G | c.967T>C | p.L323= | Synonymous | 5/28 | - | 1 |
15-43027553-G-A | c.963C>T | p.L321= | Synonymous | 5/28 | - | 1 |
15-43027555-G-A | c.961C>T | p.L321F | Missense | 5/28 | - | 1 |
15-43027562-T-C | c.954A>G | p.V318= | Synonymous | 5/28 | - | 1 |
15-43027565-C-T | c.951G>A | p.L317= | Synonymous | 5/28 | - | 1 |
15-43027708-C-T | c.943G>A | p.E315K | Missense | 4/28 | - | 1 |
15-43027713-A-G | c.938T>C | p.I313T | Missense | 4/28 | - | 1 |
15-43027716-CA-GT | c.934_935delinsAC | p.C312T | Missense | 4/28 | - | 1 |
15-43027719-G-A | c.932C>T | p.S311L | Missense | 4/28 | - | 2 |
15-43027722-G-A | c.929C>T | p.S310F | Missense | 4/28 | - | 1 |
15-43027732-G-A | c.919C>T | p.L307F | Missense | 4/28 | - | 1 |
15-43027740-A-G | c.911T>C | p.L304P | Missense | 4/28 | - | 1 |
15-43027741-G-A | c.910C>T | p.L304F | Missense | 4/28 | - | 1 |
15-43027744-C-G | c.907G>C | p.E303Q | Missense | 4/28 | - | 1 |
15-43027745-C-T | c.906G>A | p.L302= | Synonymous | 4/28 | - | 1 |
15-43027747-G-C | c.904C>G | p.L302V | Missense | 4/28 | - | 2 |
15-43027748-GCG-CCA | c.901_903delinsTGG | p.R301W | Missense | 4/28 | - | 1 |
15-43027753-G-C | c.898C>G | p.Q300E | Missense | 4/28 | - | 1 |
15-43027754-GCG-CCA | c.895_897delinsTGG | p.R299W | Missense | 4/28 | - | 1 |
15-43027754-G-T | c.897C>A | p.R299= | Synonymous | 4/28 | - | 1 |
15-43027756-G-A | c.895C>T | p.R299C | Missense | 4/28 | - | 1 |
15-43027756-G-T | c.895C>A | p.R299S | Missense | 4/28 | - | 1 |
15-43027758-G-A | c.893C>T | p.S298F | Missense | 4/28 | - | 2 |
15-43027766-T-C | c.885A>G | p.R295= | Synonymous | 4/28 | - | 1 |
15-43027768-T-G | c.883A>C | p.R295= | Synonymous | 4/28 | - | 1 |
15-43027767-C-T | c.884G>A | p.R295K | Missense | 4/28 | - | 1 |
15-43027770-G-C | c.881C>G | p.A294G | Missense | 4/28 | - | 1 |
15-43027773-G-C | c.878C>G | p.P293R | Missense | 4/28 | - | 1 |
15-43027774-G-A | c.877C>T | p.P293S | Missense | 4/28 | - | 1 |
15-43027777-C-T | c.874G>A | p.D292N | Missense | 4/28 | - | 1 |
15-43027786-C-A | c.865G>T | p.E289* | Nonsense | 4/28 | - | 1 |
15-43027795-G-A | c.856C>T | p.L286F | Missense | 4/28 | - | 1 |
15-43027795-G-T | c.856C>A | p.L286I | Missense | 4/28 | - | 1 |
15-43027796-G-A | c.855C>T | p.S285= | Synonymous | 4/28 | - | 1 |
15-43027796-G-C | c.855C>G | p.S285R | Missense | 4/28 | - | 2 |
15-43027796-G-T | c.855C>A | p.S285R | Missense | 4/28 | - | 2 |
15-43027798-T-G | c.853A>C | p.S285R | Missense | 4/28 | - | 2 |
15-43027797-C-T | c.854G>A | p.S285N | Missense | 4/28 | - | 1 |
15-43027800-C-T | c.851G>A | p.G284E | Missense | 4/28 | - | 3 |
15-43027805-C-G | c.846G>C | p.R282= | Synonymous | 4/28 | - | 1 |
15-43027806-C-T | c.845G>A | p.R282Q | Missense | 4/28 | - | 1 |
15-43027807-G-A | c.844C>T | p.R282W | Missense | 4/28 | - | 4 |
15-43027808-G-T | c.843C>A | p.S281R | Missense | 4/28 | - | 1 |
15-43027818-G-A | c.833C>T | p.P278L | Missense | 4/28 | - | 1 |
15-43027819-G-A | c.832C>T | p.P278S | Missense | 4/28 | - | 1 |
15-43027820-C-A | c.831G>T | p.S277= | Synonymous | 4/28 | - | 1 |
15-43027820-C-G | c.831G>C | p.S277= | Synonymous | 4/28 | - | 1 |
15-43027820-C-T | c.831G>A | p.S277= | Synonymous | 4/28 | - | 3 |
15-43027821-G-A | c.830C>T | p.S277L | Missense | 4/28 | - | 2 |
15-43027824-C-T | c.827G>A | p.G276E | Missense | 4/28 | - | 1 |
15-43027827-A-G | c.824T>C | p.L275S | Missense | 4/28 | - | 1 |
15-43027831-C-A | c.820G>T | p.E274* | Nonsense | 4/28 | - | 1 |
15-43027835-G-A | c.816C>T | p.T272= | Synonymous | 4/28 | - | 1 |
15-43027835-G-C | c.816C>G | p.T272= | Synonymous | 4/28 | - | 1 |
15-43027835-G-T | c.816C>A | p.T272= | Synonymous | 4/28 | - | 8 |
15-43027837-TG-T | c.813del | p.T272Pfs*34 | Frameshift | 4/28 | - | 1 |
15-43027843-A-C | c.808T>G | p.C270G | Missense | 4/28 | - | 1 |
15-43027843-A-G | c.808T>C | p.C270R | Missense | 4/28 | - | 2 |
15-43027844-G-A | c.807C>T | p.T269= | Synonymous | 4/28 | - | 2 |
15-43027848-G-C | c.803C>G | p.P268R | Missense | 4/28 | - | 1 |
15-43027849-G-A | c.802C>T | p.P268S | Missense | 4/28 | - | 1 |
15-43027850-G-A | c.801C>T | p.T267= | Synonymous | 4/28 | - | 1 |
15-43027850-G-C | c.801C>G | p.T267= | Synonymous | 4/28 | - | 1 |
15-43027850-G-T | c.801C>A | p.T267= | Synonymous | 4/28 | - | 1 |
15-43027852-T-A | c.799A>T | p.T267S | Missense | 4/28 | - | 1 |
15-43027859-C-A | c.792G>T | p.Q264H | Missense | 4/28 | - | 1 |
15-43027859-C-G | c.792G>C | p.Q264H | Missense | 4/28 | - | 1 |
15-43027860-T-C | c.791A>G | p.Q264R | Missense | 4/28 | - | 1 |
15-43027860-T-G | c.791A>C | p.Q264P | Missense | 4/28 | - | 1 |
15-43027864-G-C | c.787C>G | p.Q263E | Missense | 4/28 | - | 1 |
15-43027966-C-A | c.774-89G>T | - | IntronicSNV | - | 3/27 | 1 |
15-43028074-G-A | c.772C>T | p.R258C | Missense | 3/28 | - | 1 |
15-43028084-G-A | c.762C>T | p.L254= | Synonymous | 3/28 | - | 1 |
15-43028085-A-G | c.761T>C | p.L254P | Missense | 3/28 | - | 1 |
15-43028088-ATC-A | c.756_757del | p.E252Dfs*8 | Frameshift | 3/28 | - | 1 |
15-43028094-C-T | c.752G>A | p.R251Q | Missense | 3/28 | - | 1 |
15-43028093-T-A | c.753A>T | p.R251= | Synonymous | 3/28 | - | 1 |
15-43028093-T-C | c.753A>G | p.R251= | Synonymous | 3/28 | - | 1 |
15-43028093-T-G | c.753A>C | p.R251= | Synonymous | 3/28 | - | 1 |
15-43028095-G-A | c.751C>T | p.R251* | Nonsense | 3/28 | - | 1 |
15-43028095-G-T | c.751C>A | p.R251= | Synonymous | 3/28 | - | 1 |
15-43028098-C-T | c.748G>A | p.E250K | Missense | 3/28 | - | 1 |
15-43028099-C-T | c.747G>A | p.E249= | Synonymous | 3/28 | - | 1 |
15-43028100-T-C | c.746A>G | p.E249G | Missense | 3/28 | - | 1 |
15-43028101-C-T | c.745G>A | p.E249K | Missense | 3/28 | - | 1 |
15-43028102-T-A | c.744A>T | p.Q248H | Missense | 3/28 | - | 1 |
15-43028102-T-G | c.744A>C | p.Q248H | Missense | 3/28 | - | 1 |
15-43028107-G-C | c.739C>G | p.L247V | Missense | 3/28 | - | 1 |
15-43028111-TCT-ACA | c.733_735delinsTGT | p.R245C | Missense | 3/28 | - | 1 |
15-43028115-CA-GT | c.730_731delinsAC | p.C244T | Missense | 3/28 | - | 1 |
15-43028115-C-T | c.731G>A | p.C244Y | Missense | 3/28 | - | 1 |
15-43028117-C-G | c.729G>C | p.G243= | Synonymous | 3/28 | - | 1 |
15-43028118-C-T | c.728G>A | p.G243E | Missense | 3/28 | - | 1 |
15-43028119-C-G | c.727G>C | p.G243R | Missense | 3/28 | - | 1 |
15-43028119-C-T | c.727G>A | p.G243R | Missense | 3/28 | - | 1 |
15-43028122-G-C | c.724C>G | p.P242A | Missense | 3/28 | - | 1 |
15-43028124-G-A | c.722C>T | p.P241L | Missense | 3/28 | - | 4 |
15-43028125-G-A | c.721C>T | p.P241S | Missense | 3/28 | - | 2 |
15-43028126-A-C | c.720T>G | p.L240= | Synonymous | 3/28 | - | 1 |
15-43028126-A-G | c.720T>C | p.L240= | Synonymous | 3/28 | - | 1 |
15-43028126-A-T | c.720T>A | p.L240= | Synonymous | 3/28 | - | 1 |
15-43028129-GC-CT | c.716_717delinsAG | p.G239E | Missense | 3/28 | - | 1 |
15-43028130-C-T | c.716G>A | p.G239D | Missense | 3/28 | - | 1 |
15-43028135-G-A | c.711C>T | p.G237= | Synonymous | 3/28 | - | 3 |
15-43028135-G-C | c.711C>G | p.G237= | Synonymous | 3/28 | - | 2 |
15-43028135-G-T | c.711C>A | p.G237= | Synonymous | 3/28 | - | 2 |
15-43028139-C-T | c.707G>A | p.W236* | Nonsense | 3/28 | - | 1 |
15-43028142-G-T | c.704C>A | p.P235H | Missense | 3/28 | - | 1 |
15-43028143-G-T | c.703C>A | p.P235T | Missense | 3/28 | - | 1 |
15-43028145-C-T | c.701G>A | p.S234N | Missense | 3/28 | - | 1 |
15-43028148-G-A | c.698C>T | p.T233I | Missense | 3/28 | - | 2 |
15-43028150-G-A | c.696C>T | p.D232= | Synonymous | 3/28 | - | 2 |
15-43028157-G-T | c.689C>A | p.A230D | Missense | 3/28 | - | 1 |
15-43028158-C-T | c.688G>A | p.A230T | Missense | 3/28 | - | 6 |
15-43028164-G-A | c.682C>T | p.P228S | Missense | 3/28 | - | 1 |
15-43028165-T-C | c.681A>G | p.Q227= | Synonymous | 3/28 | - | 1 |
15-43028169-G-A | c.677C>T | p.S226F | Missense | 3/28 | - | 1 |
15-43028173-T-C | c.673A>G | p.S225G | Missense | 3/28 | - | 1 |
15-43028180-A-G | c.666T>C | p.C222= | Synonymous | 3/28 | - | 1 |
15-43028181-CAGCTGATTGGGGGTGAGGTGA-C | c.644_664del | p.F215_S221del | InFrameDeletion | 3/28 | - | 1 |
15-43028186-G-A | c.660C>T | p.I220= | Synonymous | 3/28 | - | 2 |
15-43028186-G-T | c.660C>A | p.I220= | Synonymous | 3/28 | - | 1 |
15-43028188-T-C | c.658A>G | p.I220V | Missense | 3/28 | - | 1 |
15-43028191-G-A | c.655C>T | p.P219S | Missense | 3/28 | - | 1 |
15-43028191-G-C | c.655C>G | p.P219A | Missense | 3/28 | - | 1 |
15-43028192-G-A | c.654C>T | p.P218= | Synonymous | 3/28 | - | 1 |
15-43028192-G-C | c.654C>G | p.P218= | Synonymous | 3/28 | - | 1 |
15-43028192-G-T | c.654C>A | p.P218= | Synonymous | 3/28 | - | 1 |
15-43028194-G-A | c.652C>T | p.P218S | Missense | 3/28 | - | 1 |
15-43028199-G-C | c.647C>G | p.T216S | Missense | 3/28 | - | 1 |
15-43028200-T-A | c.646A>T | p.T216S | Missense | 3/28 | - | 1 |
15-43028205-C-T | c.641G>A | p.C214Y | Missense | 3/28 | - | 2 |
15-43028212-T-A | c.634A>T | p.K212* | Nonsense | 3/28 | - | 1 |
15-43028213-G-A | c.633C>T | p.P211= | Synonymous | 3/28 | - | 1 |
15-43028213-G-C | c.633C>G | p.P211= | Synonymous | 3/28 | - | 1 |
15-43028213-G-T | c.633C>A | p.P211= | Synonymous | 3/28 | - | 1 |
15-43028214-G-A | c.632C>T | p.P211L | Missense | 3/28 | - | 1 |
15-43028221-A-C | c.625T>G | p.S209A | Missense | 3/28 | - | 1 |
15-43028222-G-A | c.624C>T | p.L208= | Synonymous | 3/28 | - | 2 |
15-43028222-G-C | c.624C>G | p.L208= | Synonymous | 3/28 | - | 4 |
15-43028222-G-T | c.624C>A | p.L208= | Synonymous | 3/28 | - | 3 |
15-43028224-G-T | c.622C>A | p.L208I | Missense | 3/28 | - | 1 |
15-43028229-C-T | c.617G>A | p.R206Q | Missense | 3/28 | - | 1 |
15-43028230-G-A | c.616C>T | p.R206W | Missense | 3/28 | - | 3 |
15-43028231-C-G | c.615G>C | p.E205D | Missense | 3/28 | - | 1 |
15-43028233-C-T | c.613G>A | p.E205K | Missense | 3/28 | - | 3 |
15-43028241-A-G | c.605T>C | p.V202A | Missense | 3/28 | - | 1 |
15-43028242-C-T | c.604G>A | p.V202M | Missense | 3/28 | - | 1 |
15-43028247-G-C | c.599C>G | p.T200S | Missense | 3/28 | - | 1 |
15-43028248-T-A | c.598A>T | p.T200S | Missense | 3/28 | - | 1 |
15-43028256-A-G | c.590T>C | p.I197T | Missense | 3/28 | - | 1 |
15-43028258-C-T | c.588G>A | p.R196= | Synonymous | 3/28 | - | 1 |
15-43028260-T-G | c.586A>C | p.R196= | Synonymous | 3/28 | - | 1 |
15-43028259-C-A | c.587G>T | p.R196M | Missense | 3/28 | - | 2 |
15-43028260-T-C | c.586A>G | p.R196G | Missense | 3/28 | - | 1 |
15-43028261-G-T | c.585C>A | p.R195= | Synonymous | 3/28 | - | 1 |
15-43028262-C-T | c.584G>A | p.R195H | Missense | 3/28 | - | 1 |
15-43028265-G-A | c.581C>T | p.S194F | Missense | 3/28 | - | 2 |
15-43028266-A-G | c.580T>C | p.S194P | Missense | 3/28 | - | 2 |
15-43028268-G-A | c.578C>T | p.P193L | Missense | 3/28 | - | 1 |
15-43028273-C-T | c.573G>A | p.T191= | Synonymous | 3/28 | - | 1 |
15-43028274-G-A | c.572C>T | p.T191M | Missense | 3/28 | - | 1 |
15-43028500-C-T | c.569G>A | p.G190E | Missense | 2/28 | - | 2 |
15-43028502-T-C | c.567A>G | p.T189= | Synonymous | 2/28 | - | 1 |
15-43028509-C-T | c.560G>A | p.G187D | Missense | 2/28 | - | 2 |
15-43028510-C-T | c.559G>A | p.G187S | Missense | 2/28 | - | 2 |
15-43028511-G-C | c.558C>G | p.P186= | Synonymous | 2/28 | - | 4 |
15-43028512-G-A | c.557C>T | p.P186L | Missense | 2/28 | - | 1 |
15-43028512-G-C | c.557C>G | p.P186R | Missense | 2/28 | - | 1 |
15-43028512-G-T | c.557C>A | p.P186H | Missense | 2/28 | - | 1 |
15-43028515-G-A | c.554C>T | p.P185L | Missense | 2/28 | - | 3 |
15-43028515-G-T | c.554C>A | p.P185H | Missense | 2/28 | - | 2 |
15-43028510-C-CG | c.558dup | p.G187Rfs*48 | Frameshift | 2/28 | - | 1 |
15-43028518-A-T | c.551T>A | p.V184D | Missense | 2/28 | - | 1 |
15-43028520-C-A | c.549G>T | p.S183= | Synonymous | 2/28 | - | 1 |
15-43028520-C-G | c.549G>C | p.S183= | Synonymous | 2/28 | - | 1 |
15-43028520-C-T | c.549G>A | p.S183= | Synonymous | 2/28 | - | 1 |
15-43028521-G-A | c.548C>T | p.S183L | Missense | 2/28 | - | 1 |
15-43028529-G-A | c.540C>T | p.P180= | Synonymous | 2/28 | - | 1 |
15-43028529-G-C | c.540C>G | p.P180= | Synonymous | 2/28 | - | 1 |
15-43028530-G-A | c.539C>T | p.P180L | Missense | 2/28 | - | 2 |
15-43028533-G-A | c.536C>T | p.P179L | Missense | 2/28 | - | 3 |
15-43028534-G-A | c.535C>T | p.P179S | Missense | 2/28 | - | 1 |
15-43028535-G-A | c.534C>T | p.F178= | Synonymous | 2/28 | - | 3 |
15-43028536-A-T | c.533T>A | p.F178Y | Missense | 2/28 | - | 1 |
15-43028537-A-T | c.532T>A | p.F178I | Missense | 2/28 | - | 1 |
15-43028542-T-A | c.527A>T | p.E176V | Missense | 2/28 | - | 2 |
15-43028552-T-C | c.517A>G | p.S173G | Missense | 2/28 | - | 1 |
15-43028574-C-A | c.495G>T | p.T165= | Synonymous | 2/28 | - | 1 |
15-43028574-C-G | c.495G>C | p.T165= | Synonymous | 2/28 | - | 1 |
15-43028574-C-T | c.495G>A | p.T165= | Synonymous | 2/28 | - | 1 |
15-43028575-G-A | c.494C>T | p.T165M | Missense | 2/28 | - | 1 |
15-43028583-G-A | c.486C>T | p.P162= | Synonymous | 2/28 | - | 1 |
15-43028586-GC-TT | c.482_483delinsAA | p.R161Q | Missense | 2/28 | - | 1 |
15-43028587-C-A | c.482G>T | p.R161L | Missense | 2/28 | - | 1 |
15-43028588-G-A | c.481C>T | p.R161C | Missense | 2/28 | - | 1 |
15-43028589-G-A | c.480C>T | p.S160= | Synonymous | 2/28 | - | 1 |
15-43028592-G-A | c.477C>T | p.P159= | Synonymous | 2/28 | - | 13 |
15-43028592-G-C | c.477C>G | p.P159= | Synonymous | 2/28 | - | 1 |
15-43028592-G-T | c.477C>A | p.P159= | Synonymous | 2/28 | - | 1 |
15-43028595-G-A | c.474C>T | p.S158= | Synonymous | 2/28 | - | 1 |
15-43028592-G-GGGGCGGCTA | c.476_477insTAGCCGCCC | p.R161_S163dup | InFrameInsertion | 2/28 | - | 2 |
15-43028598-G-A | c.471C>T | p.G157= | Synonymous | 2/28 | - | 1 |
15-43028598-G-C | c.471C>G | p.G157= | Synonymous | 2/28 | - | 1 |
15-43028598-G-T | c.471C>A | p.G157= | Synonymous | 2/28 | - | 1 |
15-43028599-C-T | c.470G>A | p.G157D | Missense | 2/28 | - | 2 |
15-43028603-A-C | c.466T>G | p.S156A | Missense | 2/28 | - | 1 |
15-43028617-CG-AT | c.451_452delinsAT | p.R151M | Missense | 2/28 | - | 1 |
15-43028618-G-C | c.451C>G | p.R151G | Missense | 2/28 | - | 1 |
15-43028619-G-A | c.450C>T | p.G150= | Synonymous | 2/28 | - | 2 |
15-43028619-G-C | c.450C>G | p.G150= | Synonymous | 2/28 | - | 2 |
15-43028619-G-T | c.450C>A | p.G150= | Synonymous | 2/28 | - | 2 |
15-43028620-C-A | c.449G>T | p.G150V | Missense | 2/28 | - | 1 |
15-43028620-C-T | c.449G>A | p.G150D | Missense | 2/28 | - | 1 |
15-43028621-C-T | c.448G>A | p.G150S | Missense | 2/28 | - | 1 |
15-43028626-G-A | c.443C>T | p.A148V | Missense | 2/28 | - | 7 |
15-43028638-CT-AA | c.430_431delinsTT | p.S144F | Missense | 2/28 | - | 1 |
15-43028640-C-A | c.429G>T | p.E143D | Missense | 2/28 | - | 1 |
15-43028640-C-G | c.429G>C | p.E143D | Missense | 2/28 | - | 1 |
15-43028643-C-T | c.426G>A | p.G142= | Synonymous | 2/28 | - | 1 |
15-43028651-C-A | c.418G>T | p.V140F | Missense | 2/28 | - | 1 |
15-43028656-T-G | c.413A>C | p.E138A | Missense | 2/28 | - | 1 |
15-43028660-C-T | c.409G>A | p.E137K | Missense | 2/28 | - | 1 |
15-43028661-C-A | c.408G>T | p.L136= | Synonymous | 2/28 | - | 1 |
15-43028661-C-G | c.408G>C | p.L136= | Synonymous | 2/28 | - | 1 |
15-43028661-C-T | c.408G>A | p.L136= | Synonymous | 2/28 | - | 1 |
15-43028663-G-A | c.406C>T | p.L136= | Synonymous | 2/28 | - | 1 |
15-43028664-G-A | c.405C>T | p.G135= | Synonymous | 2/28 | - | 1 |
15-43028666-C-T | c.403G>A | p.G135S | Missense | 2/28 | - | 1 |
15-43028673-T-A | c.396A>T | p.G132= | Synonymous | 2/28 | - | 1 |
15-43028673-T-C | c.396A>G | p.G132= | Synonymous | 2/28 | - | 1 |
15-43028673-T-G | c.396A>C | p.G132= | Synonymous | 2/28 | - | 1 |
15-43028674-C-T | c.395G>A | p.G132E | Missense | 2/28 | - | 1 |
15-43028677-C-T | c.392G>A | p.R131H | Missense | 2/28 | - | 1 |
15-43028681-C-T | c.388G>A | p.E130K | Missense | 2/28 | - | 1 |
15-43028683-C-A | c.386G>T | p.R129L | Missense | 2/28 | - | 1 |
15-43028683-C-T | c.386G>A | p.R129H | Missense | 2/28 | - | 3 |
15-43028684-G-T | c.385C>A | p.R129S | Missense | 2/28 | - | 1 |
15-43028686-G-T | c.383C>A | p.A128D | Missense | 2/28 | - | 1 |
15-43028687-C-G | c.382G>C | p.A128P | Missense | 2/28 | - | 1 |
15-43028689-G-A | c.380C>T | p.P127L | Missense | 2/28 | - | 1 |
15-43028691-CCC-GCT | c.376_378delinsAGC | p.G126S | Missense | 2/28 | - | 1 |
15-43028697-G-C | c.372C>G | p.G124= | Synonymous | 2/28 | - | 1 |
15-43028700-CCG-ACA | c.367_369delinsTGT | p.R123C | Missense | 2/28 | - | 1 |
15-43028701-C-T | c.368G>A | p.R123Q | Missense | 2/28 | - | 1 |
15-43028710-C-T | c.359G>A | p.G120D | Missense | 2/28 | - | 1 |
15-43028711-C-T | c.358G>A | p.G120S | Missense | 2/28 | - | 1 |
15-43028719-C-T | c.350G>A | p.R117H | Missense | 2/28 | - | 1 |
15-43028722-G-A | c.347C>T | p.A116V | Missense | 2/28 | - | 2 |
15-43028730-G-A | c.339C>T | p.A113= | Synonymous | 2/28 | - | 1 |
15-43028730-G-C | c.339C>G | p.A113= | Synonymous | 2/28 | - | 1 |
15-43028730-G-T | c.339C>A | p.A113= | Synonymous | 2/28 | - | 1 |
15-43028743-G-A | c.326C>T | p.T109I | Missense | 2/28 | - | 1 |
15-43028749-T-A | c.320A>T | p.Q107L | Missense | 2/28 | - | 30 |
15-43028753-C-T | c.316G>A | p.A106T | Missense | 2/28 | - | 1 |
15-43028758-G-A | c.311C>T | p.T104I | Missense | 2/28 | - | 1 |
15-43028759-T-C | c.310A>G | p.T104A | Missense | 2/28 | - | 1 |
15-43028771-G-C | c.298C>G | p.L100V | Missense | 2/28 | - | 1 |
15-43028773-T-C | c.296A>G | p.Q99R | Missense | 2/28 | - | 1 |
15-43028776-CT-AA | c.292_293delinsTT | p.S98F | Missense | 2/28 | - | 1 |
15-43028780-G-A | c.289C>T | p.R97C | Missense | 2/28 | - | 1 |
15-43028780-G-C | c.289C>G | p.R97G | Missense | 2/28 | - | 1 |
15-43028782-G-A | c.287C>T | p.A96V | Missense | 2/28 | - | 1 |
15-43028791-C-T | c.278G>A | p.S93N | Missense | 2/28 | - | 1 |
15-43028796-C-A | c.273G>T | p.R91= | Synonymous | 2/28 | - | 1 |
15-43028796-C-G | c.273G>C | p.R91= | Synonymous | 2/28 | - | 1 |
15-43028796-C-T | c.273G>A | p.R91= | Synonymous | 2/28 | - | 1 |
15-43028798-G-A | c.271C>T | p.R91W | Missense | 2/28 | - | 1 |
15-43028798-G-T | c.271C>A | p.R91= | Synonymous | 2/28 | - | 1 |
15-43028803-G-A | c.266C>T | p.P89L | Missense | 2/28 | - | 1 |
15-43028809-C-T | c.260G>A | p.G87E | Missense | 2/28 | - | 1 |
15-43028813-G-A | c.256C>T | p.P86S | Missense | 2/28 | - | 3 |
15-43028814-C-T | c.255G>A | p.R85= | Synonymous | 2/28 | - | 1 |
15-43028816-T-G | c.253A>C | p.R85= | Synonymous | 2/28 | - | 1 |
15-43028819-C-G | c.250G>C | p.G84R | Missense | 2/28 | - | 1 |
15-43028819-C-T | c.250G>A | p.G84R | Missense | 2/28 | - | 1 |
15-43028825-AG-A | c.243del | p.L82Cfs*100 | Frameshift | 2/28 | - | 1 |
15-43028832-C-A | c.237G>T | p.S79= | Synonymous | 2/28 | - | 2 |
15-43028832-C-G | c.237G>C | p.S79= | Synonymous | 2/28 | - | 2 |
15-43028832-C-T | c.237G>A | p.S79= | Synonymous | 2/28 | - | 2 |
15-43028840-C-G | c.229G>C | p.G77R | Missense | 2/28 | - | 1 |
15-43028840-C-T | c.229G>A | p.G77S | Missense | 2/28 | - | 1 |
15-43028845-G-A | c.224C>T | p.T75I | Missense | 2/28 | - | 1 |
15-43028846-T-C | c.223A>G | p.T75A | Missense | 2/28 | - | 1 |
15-43028856-G-A | c.213C>T | p.T71= | Synonymous | 2/28 | - | 1 |
15-43028856-G-C | c.213C>G | p.T71= | Synonymous | 2/28 | - | 1 |
15-43028856-G-T | c.213C>A | p.T71= | Synonymous | 2/28 | - | 1 |
15-43028859-CG-C | c.209del | p.P70Rfs*112 | Frameshift | 2/28 | - | 1 |
15-43028868-C-A | c.201G>T | p.Q67H | Missense | 2/28 | - | 1 |
15-43028872-G-A | c.197C>T | p.P66L | Missense | 2/28 | - | 1 |
15-43028872-G-T | c.197C>A | p.P66Q | Missense | 2/28 | - | 1 |
15-43028873-G-T | c.196C>A | p.P66T | Missense | 2/28 | - | 1 |
15-43028875-A-G | c.194T>C | p.L65P | Missense | 2/28 | - | 1 |
15-43028880-GCG-CCA | c.187_189delinsTGG | p.R63W | Missense | 2/28 | - | 1 |
15-43028882-G-A | c.187C>T | p.R63C | Missense | 2/28 | - | 1 |
15-43028887-C-A | c.182G>T | p.S61I | Missense | 2/28 | - | 1 |
15-43028889-C-A | c.180G>T | p.Q60H | Missense | 2/28 | - | 1 |
15-43028894-C-A | c.175G>T | p.E59* | Nonsense | 2/28 | - | 1 |
15-43028895-C-T | c.174G>A | p.R58= | Synonymous | 2/28 | - | 1 |
15-43028896-C-T | c.173G>A | p.R58K | Missense | 2/28 | - | 1 |
15-43028899-A-G | c.170T>C | p.L57P | Missense | 2/28 | - | 1 |
15-43028902-A-C | c.167T>G | p.F56C | Missense | 2/28 | - | 1 |
15-43028906-T-C | c.163A>G | p.N55D | Missense | 2/28 | - | 1 |
15-43028909-A-C | c.160T>G | p.L54V | Missense | 2/28 | - | 1 |
15-43028912-G-A | c.157C>T | p.L53= | Synonymous | 2/28 | - | 2 |
15-43028913-G-A | c.156C>T | p.F52= | Synonymous | 2/28 | - | 1 |
15-43028913-G-C | c.156C>G | p.F52L | Missense | 2/28 | - | 4 |
15-43028913-G-T | c.156C>A | p.F52L | Missense | 2/28 | - | 1 |
15-43028915-A-G | c.154T>C | p.F52L | Missense | 2/28 | - | 1 |
15-43028917-G-A | c.152C>T | p.P51L | Missense | 2/28 | - | 2 |
15-43028927-C-A | c.142G>T | p.E48* | Nonsense | 2/28 | - | 1 |
15-43028938-GC-CG | c.130_131delinsCG | p.A44R | Missense | 2/28 | - | 1 |
15-43028939-C-G | c.130G>C | p.A44P | Missense | 2/28 | - | 1 |
15-43028939-C-T | c.130G>A | p.A44T | Missense | 2/28 | - | 2 |
15-43028941-C-T | c.128G>A | p.R43Q | Missense | 2/28 | - | 1 |
15-43028942-G-A | c.127C>T | p.R43W | Missense | 2/28 | - | 2 |
15-43028946-T-G | c.123A>C | p.S41= | Synonymous | 2/28 | - | 1 |
15-43028949-G-C | c.120C>G | p.S40R | Missense | 2/28 | - | 1 |
15-43028949-G-T | c.120C>A | p.S40R | Missense | 2/28 | - | 1 |
15-43028951-T-G | c.118A>C | p.S40R | Missense | 2/28 | - | 1 |
15-43028955-C-T | c.114G>A | p.A38= | Synonymous | 2/28 | - | 1 |
15-43028957-C-T | c.112G>A | p.A38T | Missense | 2/28 | - | 1 |
15-43028961-C-A | c.108G>T | p.A36= | Synonymous | 2/28 | - | 1 |
15-43028962-G-A | c.107C>T | p.A36V | Missense | 2/28 | - | 2 |
15-43028963-C-T | c.106G>A | p.A36T | Missense | 2/28 | - | 2 |
15-43028965-T-C | c.104A>G | p.E35G | Missense | 2/28 | - | 1 |
15-43028967-C-T | c.102G>A | p.G34= | Synonymous | 2/28 | - | 1 |
15-43028972-C-G | c.97G>C | p.A33P | Missense | 2/28 | - | 1 |
15-43028972-C-T | c.97G>A | p.A33T | Missense | 2/28 | - | 1 |
15-43028973-G-C | c.96C>G | p.N32K | Missense | 2/28 | - | 1 |
15-43028973-G-T | c.96C>A | p.N32K | Missense | 2/28 | - | 2 |
15-43028976-TA-T | c.93del | p.D31Efs*9 | Frameshift | 2/28 | - | 1 |
15-43029111-G-A | c.90+100C>T | - | IntronicSNV | - | 1/27 | 1 |
15-43029213-C-G | c.88G>C | p.E30Q | Missense | 1/28 | - | 1 |
15-43029216-A-C | c.85T>G | p.S29A | Missense | 1/28 | - | 2 |
15-43029217-A-C | c.84T>G | p.G28= | Synonymous | 1/28 | - | 1 |
15-43029217-A-G | c.84T>C | p.G28= | Synonymous | 1/28 | - | 1 |
15-43029217-A-T | c.84T>A | p.G28= | Synonymous | 1/28 | - | 1 |
15-43029218-C-T | c.83G>A | p.G28D | Missense | 1/28 | - | 1 |
15-43029235-G-A | c.66C>T | p.I22= | Synonymous | 1/28 | - | 1 |
15-43029236-A-G | c.65T>C | p.I22T | Missense | 1/28 | - | 1 |
15-43029237-T-C | c.64A>G | p.I22V | Missense | 1/28 | - | 1 |
15-43029240-A-C | c.61T>G | p.W21G | Missense | 1/28 | - | 4 |
15-43029241-C-A | c.60G>T | p.R20= | Synonymous | 1/28 | - | 1 |
15-43029241-C-G | c.60G>C | p.R20= | Synonymous | 1/28 | - | 1 |
15-43029241-C-T | c.60G>A | p.R20= | Synonymous | 1/28 | - | 1 |
15-43029243-G-T | c.58C>A | p.R20= | Synonymous | 1/28 | - | 1 |
15-43029246-C-G | c.55G>C | p.V19L | Missense | 1/28 | - | 1 |
15-43029247-GAC-CAT | c.52_54delinsATG | p.V18M | Missense | 1/28 | - | 1 |
15-43029250-G-A | c.51C>T | p.A17= | Synonymous | 1/28 | - | 1 |
15-43029250-G-C | c.51C>G | p.A17= | Synonymous | 1/28 | - | 1 |
15-43029250-GGC-TTG | c.49_51delinsCAA | p.A17Q | Missense | 1/28 | - | 2 |
15-43029250-G-T | c.51C>A | p.A17= | Synonymous | 1/28 | - | 1 |
15-43029251-G-A | c.50C>T | p.A17V | Missense | 1/28 | - | 1 |
15-43029253-TGC-ATA | c.46_48delinsTAT | p.A16Y | Missense | 1/28 | - | 2 |
15-43029253-TG-GT | c.47_48delinsAC | p.A16D | Missense | 1/28 | - | 1 |
15-43029254-GC-TA | c.46_47delinsTA | p.A16* | Nonsense | 1/28 | - | 1 |
15-43029257-A-C | c.44T>G | p.V15G | Missense | 1/28 | - | 1 |
15-43029259-CG-AC | c.41_42delinsGT | p.S14C | Missense | 1/28 | - | 1 |
15-43029261-A-C | c.40T>G | p.S14A | Missense | 1/28 | - | 1 |
15-43029266-TC-CA | c.34_35delinsTG | p.E12W | Missense | 1/28 | - | 1 |
15-43029267-C-G | c.34G>C | p.E12Q | Missense | 1/28 | - | 1 |
15-43029267-C-T | c.34G>A | p.E12K | Missense | 1/28 | - | 1 |
15-43029271-TCG-GCT | c.28_30delinsAGC | p.R10S | Missense | 1/28 | - | 1 |
15-43029276-G-C | c.25C>G | p.L9V | Missense | 1/28 | - | 1 |
15-43029280-C-G | c.21G>C | p.S7= | Synonymous | 1/28 | - | 1 |
15-43029281-G-A | c.20C>T | p.S7L | Missense | 1/28 | - | 1 |
15-43029285-C-G | c.16G>C | p.E6Q | Missense | 1/28 | - | 1 |
15-43029289-A-C | c.12T>G | p.V4= | Synonymous | 1/28 | - | 1 |
15-43029289-A-G | c.12T>C | p.V4= | Synonymous | 1/28 | - | 1 |
15-43029289-A-T | c.12T>A | p.V4= | Synonymous | 1/28 | - | 1 |
15-43029290-A-C | c.11T>G | p.V4G | Missense | 1/28 | - | 2 |
15-43029290-A-G | c.11T>C | p.V4A | Missense | 1/28 | - | 1 |
15-43029290-A-T | c.11T>A | p.V4D | Missense | 1/28 | - | 1 |
15-43029292-G-A | c.9C>T | p.A3= | Synonymous | 1/28 | - | 1 |
15-43029292-G-C | c.9C>G | p.A3= | Synonymous | 1/28 | - | 1 |
15-43029292-G-T | c.9C>A | p.A3= | Synonymous | 1/28 | - | 1 |
15-43029293-G-A | c.8C>T | p.A3V | Missense | 1/28 | - | 1 |
15-43029314-C-T | c.-14G>A | - | 5-UTRSNV | 1/28 | - | 1 |