Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.208326183_208326209del | CA2754053494 | PIKFYVE | c.3372_3398del (p.Ile1125_Leu1133del) c.3204_3230del (p.Ile1069_Leu1077del) c.3408_3434del (p.Ile1137_Leu1145del) c.3405_3431del (p.Ile1136_Leu1144del) c.3390_3416del (p.Ile1131_Leu1139del) c.3240_3266del (p.Ile1081_Leu1089del) c.3237_3263del (p.Ile1080_Leu1088del) c.3222_3248del (p.Ile1075_Leu1083del) c.3117_3143del (p.Ile1040_Leu1048del) c.3114_3140del (p.Ile1039_Leu1047del) c.3081_3107del (p.Ile1028_Leu1036del) c.2931_2957del (p.Ile978_Leu986del) c.2415_2441del (p.Ile806_Leu814del) n.3545_3571del c.3354_3380del (p.Ile1119_Leu1127del) c.3186_3212del (p.Ile1063_Leu1071del) c.2913_2939del (p.Ile972_Leu980del) c.2763_2789del (p.Ile922_Leu930del) | |
2 | g.208326205G>A | CA350115443 | PIKFYVE | c.3394G>A (p.Glu1132Lys) c.3226G>A (p.Glu1076Lys) c.3430G>A (p.Glu1144Lys) c.3427G>A (p.Glu1143Lys) c.3412G>A (p.Glu1138Lys) c.3262G>A (p.Glu1088Lys) c.3259G>A (p.Glu1087Lys) c.3244G>A (p.Glu1082Lys) c.3139G>A (p.Glu1047Lys) c.3136G>A (p.Glu1046Lys) c.3103G>A (p.Glu1035Lys) c.2953G>A (p.Glu985Lys) c.2437G>A (p.Glu813Lys) n.3567G>A c.3376G>A (p.Glu1126Lys) c.3208G>A (p.Glu1070Lys) c.2935G>A (p.Glu979Lys) c.2785G>A (p.Glu929Lys) | |
2 | g.208326205G>C | CA350115444 | PIKFYVE | c.3394G>C (p.Glu1132Gln) c.3226G>C (p.Glu1076Gln) c.3430G>C (p.Glu1144Gln) c.3427G>C (p.Glu1143Gln) c.3412G>C (p.Glu1138Gln) c.3262G>C (p.Glu1088Gln) c.3259G>C (p.Glu1087Gln) c.3244G>C (p.Glu1082Gln) c.3139G>C (p.Glu1047Gln) c.3136G>C (p.Glu1046Gln) c.3103G>C (p.Glu1035Gln) c.2953G>C (p.Glu985Gln) c.2437G>C (p.Glu813Gln) n.3567G>C c.3376G>C (p.Glu1126Gln) c.3208G>C (p.Glu1070Gln) c.2935G>C (p.Glu979Gln) c.2785G>C (p.Glu929Gln) | |
2 | g.208326205G>T | CA350115445 | PIKFYVE | c.3394G>T (p.Glu1132Ter) c.3226G>T (p.Glu1076Ter) c.3430G>T (p.Glu1144Ter) c.3427G>T (p.Glu1143Ter) c.3412G>T (p.Glu1138Ter) c.3262G>T (p.Glu1088Ter) c.3259G>T (p.Glu1087Ter) c.3244G>T (p.Glu1082Ter) c.3139G>T (p.Glu1047Ter) c.3136G>T (p.Glu1046Ter) c.3103G>T (p.Glu1035Ter) c.2953G>T (p.Glu985Ter) c.2437G>T (p.Glu813Ter) n.3567G>T c.3376G>T (p.Glu1126Ter) c.3208G>T (p.Glu1070Ter) c.2935G>T (p.Glu979Ter) c.2785G>T (p.Glu929Ter) | |
2 | g.208326206A>C | CA350115446 | PIKFYVE | c.3395A>C (p.Glu1132Ala) c.3227A>C (p.Glu1076Ala) c.3431A>C (p.Glu1144Ala) c.3428A>C (p.Glu1143Ala) c.3413A>C (p.Glu1138Ala) c.3263A>C (p.Glu1088Ala) c.3260A>C (p.Glu1087Ala) c.3245A>C (p.Glu1082Ala) c.3140A>C (p.Glu1047Ala) c.3137A>C (p.Glu1046Ala) c.3104A>C (p.Glu1035Ala) c.2954A>C (p.Glu985Ala) c.2438A>C (p.Glu813Ala) n.3568A>C c.3377A>C (p.Glu1126Ala) c.3209A>C (p.Glu1070Ala) c.2936A>C (p.Glu979Ala) c.2786A>C (p.Glu929Ala) | |
2 | g.208326206A>G | CA350115447 | PIKFYVE | c.3395A>G (p.Glu1132Gly) c.3227A>G (p.Glu1076Gly) c.3431A>G (p.Glu1144Gly) c.3428A>G (p.Glu1143Gly) c.3413A>G (p.Glu1138Gly) c.3263A>G (p.Glu1088Gly) c.3260A>G (p.Glu1087Gly) c.3245A>G (p.Glu1082Gly) c.3140A>G (p.Glu1047Gly) c.3137A>G (p.Glu1046Gly) c.3104A>G (p.Glu1035Gly) c.2954A>G (p.Glu985Gly) c.2438A>G (p.Glu813Gly) n.3568A>G c.3377A>G (p.Glu1126Gly) c.3209A>G (p.Glu1070Gly) c.2936A>G (p.Glu979Gly) c.2786A>G (p.Glu929Gly) | |
2 | g.208326206A>T | CA350115448 | PIKFYVE | c.3395A>T (p.Glu1132Val) c.3227A>T (p.Glu1076Val) c.3431A>T (p.Glu1144Val) c.3428A>T (p.Glu1143Val) c.3413A>T (p.Glu1138Val) c.3263A>T (p.Glu1088Val) c.3260A>T (p.Glu1087Val) c.3245A>T (p.Glu1082Val) c.3140A>T (p.Glu1047Val) c.3137A>T (p.Glu1046Val) c.3104A>T (p.Glu1035Val) c.2954A>T (p.Glu985Val) c.2438A>T (p.Glu813Val) n.3568A>T c.3377A>T (p.Glu1126Val) c.3209A>T (p.Glu1070Val) c.2936A>T (p.Glu979Val) c.2786A>T (p.Glu929Val) | |
2 | g.208326207G>A | CA431117655 | PIKFYVE | c.3396G>A (p.Glu1132=) c.3228G>A (p.Glu1076=) c.3432G>A (p.Glu1144=) c.3429G>A (p.Glu1143=) c.3414G>A (p.Glu1138=) c.3264G>A (p.Glu1088=) c.3261G>A (p.Glu1087=) c.3246G>A (p.Glu1082=) c.3141G>A (p.Glu1047=) c.3138G>A (p.Glu1046=) c.3105G>A (p.Glu1035=) c.2955G>A (p.Glu985=) c.2439G>A (p.Glu813=) n.3569G>A c.3378G>A (p.Glu1126=) c.3210G>A (p.Glu1070=) c.2937G>A (p.Glu979=) c.2787G>A (p.Glu929=) | gnomAD v4 |
2 | g.208326207G>C | CA350115449 | PIKFYVE | c.3396G>C (p.Glu1132Asp) c.3228G>C (p.Glu1076Asp) c.3432G>C (p.Glu1144Asp) c.3429G>C (p.Glu1143Asp) c.3414G>C (p.Glu1138Asp) c.3264G>C (p.Glu1088Asp) c.3261G>C (p.Glu1087Asp) c.3246G>C (p.Glu1082Asp) c.3141G>C (p.Glu1047Asp) c.3138G>C (p.Glu1046Asp) c.3105G>C (p.Glu1035Asp) c.2955G>C (p.Glu985Asp) c.2439G>C (p.Glu813Asp) n.3569G>C c.3378G>C (p.Glu1126Asp) c.3210G>C (p.Glu1070Asp) c.2937G>C (p.Glu979Asp) c.2787G>C (p.Glu929Asp) | |
2 | g.208326207G>T | CA350115450 | PIKFYVE | c.3396G>T (p.Glu1132Asp) c.3228G>T (p.Glu1076Asp) c.3432G>T (p.Glu1144Asp) c.3429G>T (p.Glu1143Asp) c.3414G>T (p.Glu1138Asp) c.3264G>T (p.Glu1088Asp) c.3261G>T (p.Glu1087Asp) c.3246G>T (p.Glu1082Asp) c.3141G>T (p.Glu1047Asp) c.3138G>T (p.Glu1046Asp) c.3105G>T (p.Glu1035Asp) c.2955G>T (p.Glu985Asp) c.2439G>T (p.Glu813Asp) n.3569G>T c.3378G>T (p.Glu1126Asp) c.3210G>T (p.Glu1070Asp) c.2937G>T (p.Glu979Asp) c.2787G>T (p.Glu929Asp) | |
2 | g.208326208C>A | CA64596672 | PIKFYVE | c.3397C>A (p.Leu1133Ile) c.3229C>A (p.Leu1077Ile) c.3433C>A (p.Leu1145Ile) c.3430C>A (p.Leu1144Ile) c.3415C>A (p.Leu1139Ile) c.3265C>A (p.Leu1089Ile) c.3262C>A (p.Leu1088Ile) c.3247C>A (p.Leu1083Ile) c.3142C>A (p.Leu1048Ile) c.3139C>A (p.Leu1047Ile) c.3106C>A (p.Leu1036Ile) c.2956C>A (p.Leu986Ile) c.2440C>A (p.Leu814Ile) n.3570C>A c.3379C>A (p.Leu1127Ile) c.3211C>A (p.Leu1071Ile) c.2938C>A (p.Leu980Ile) c.2788C>A (p.Leu930Ile) | dbSNP |
2 | g.208326208C= | CA1324023415 | PIKFYVE | c.3397C= (p.Leu1133=) c.3229C= (p.Leu1077=) c.3433C= (p.Leu1145=) c.3430C= (p.Leu1144=) c.3415C= (p.Leu1139=) c.3265C= (p.Leu1089=) c.3262C= (p.Leu1088=) c.3247C= (p.Leu1083=) c.3142C= (p.Leu1048=) c.3139C= (p.Leu1047=) c.3106C= (p.Leu1036=) c.2956C= (p.Leu986=) c.2440C= (p.Leu814=) n.3570C= c.3379C= (p.Leu1127=) c.3211C= (p.Leu1071=) c.2938C= (p.Leu980=) c.2788C= (p.Leu930=) | |
2 | g.208326208C>G | CA350115451 | PIKFYVE | c.3397C>G (p.Leu1133Val) c.3229C>G (p.Leu1077Val) c.3433C>G (p.Leu1145Val) c.3430C>G (p.Leu1144Val) c.3415C>G (p.Leu1139Val) c.3265C>G (p.Leu1089Val) c.3262C>G (p.Leu1088Val) c.3247C>G (p.Leu1083Val) c.3142C>G (p.Leu1048Val) c.3139C>G (p.Leu1047Val) c.3106C>G (p.Leu1036Val) c.2956C>G (p.Leu986Val) c.2440C>G (p.Leu814Val) n.3570C>G c.3379C>G (p.Leu1127Val) c.3211C>G (p.Leu1071Val) c.2938C>G (p.Leu980Val) c.2788C>G (p.Leu930Val) | |
2 | g.208326208C>T | CA431117658 | PIKFYVE | c.3397C>T (p.Leu1133=) c.3229C>T (p.Leu1077=) c.3433C>T (p.Leu1145=) c.3430C>T (p.Leu1144=) c.3415C>T (p.Leu1139=) c.3265C>T (p.Leu1089=) c.3262C>T (p.Leu1088=) c.3247C>T (p.Leu1083=) c.3142C>T (p.Leu1048=) c.3139C>T (p.Leu1047=) c.3106C>T (p.Leu1036=) c.2956C>T (p.Leu986=) c.2440C>T (p.Leu814=) n.3570C>T c.3379C>T (p.Leu1127=) c.3211C>T (p.Leu1071=) c.2938C>T (p.Leu980=) c.2788C>T (p.Leu930=) | |
2 | g.208326209T>A | CA350115452 | PIKFYVE | c.3398T>A (p.Leu1133Gln) c.3230T>A (p.Leu1077Gln) c.3434T>A (p.Leu1145Gln) c.3431T>A (p.Leu1144Gln) c.3416T>A (p.Leu1139Gln) c.3266T>A (p.Leu1089Gln) c.3263T>A (p.Leu1088Gln) c.3248T>A (p.Leu1083Gln) c.3143T>A (p.Leu1048Gln) c.3140T>A (p.Leu1047Gln) c.3107T>A (p.Leu1036Gln) c.2957T>A (p.Leu986Gln) c.2441T>A (p.Leu814Gln) n.3571T>A c.3380T>A (p.Leu1127Gln) c.3212T>A (p.Leu1071Gln) c.2939T>A (p.Leu980Gln) c.2789T>A (p.Leu930Gln) | |
2 | g.208326209T>C | CA350115453 | PIKFYVE | c.3398T>C (p.Leu1133Pro) c.3230T>C (p.Leu1077Pro) c.3434T>C (p.Leu1145Pro) c.3431T>C (p.Leu1144Pro) c.3416T>C (p.Leu1139Pro) c.3266T>C (p.Leu1089Pro) c.3263T>C (p.Leu1088Pro) c.3248T>C (p.Leu1083Pro) c.3143T>C (p.Leu1048Pro) c.3140T>C (p.Leu1047Pro) c.3107T>C (p.Leu1036Pro) c.2957T>C (p.Leu986Pro) c.2441T>C (p.Leu814Pro) n.3571T>C c.3380T>C (p.Leu1127Pro) c.3212T>C (p.Leu1071Pro) c.2939T>C (p.Leu980Pro) c.2789T>C (p.Leu930Pro) | |
2 | g.208326209T>G | CA350115454 | PIKFYVE | c.3398T>G (p.Leu1133Arg) c.3230T>G (p.Leu1077Arg) c.3434T>G (p.Leu1145Arg) c.3431T>G (p.Leu1144Arg) c.3416T>G (p.Leu1139Arg) c.3266T>G (p.Leu1089Arg) c.3263T>G (p.Leu1088Arg) c.3248T>G (p.Leu1083Arg) c.3143T>G (p.Leu1048Arg) c.3140T>G (p.Leu1047Arg) c.3107T>G (p.Leu1036Arg) c.2957T>G (p.Leu986Arg) c.2441T>G (p.Leu814Arg) n.3571T>G c.3380T>G (p.Leu1127Arg) c.3212T>G (p.Leu1071Arg) c.2939T>G (p.Leu980Arg) c.2789T>G (p.Leu930Arg) | |
2 | g.208326210A>C | CA431117662 | PIKFYVE | c.3399A>C (p.Leu1133=) c.3231A>C (p.Leu1077=) c.3435A>C (p.Leu1145=) c.3432A>C (p.Leu1144=) c.3417A>C (p.Leu1139=) c.3267A>C (p.Leu1089=) c.3264A>C (p.Leu1088=) c.3249A>C (p.Leu1083=) c.3144A>C (p.Leu1048=) c.3141A>C (p.Leu1047=) c.3108A>C (p.Leu1036=) c.2958A>C (p.Leu986=) c.2442A>C (p.Leu814=) n.3572A>C c.3381A>C (p.Leu1127=) c.3213A>C (p.Leu1071=) c.2940A>C (p.Leu980=) c.2790A>C (p.Leu930=) | |
2 | g.208326210A>G | CA431117663 | PIKFYVE | c.3399A>G (p.Leu1133=) c.3231A>G (p.Leu1077=) c.3435A>G (p.Leu1145=) c.3432A>G (p.Leu1144=) c.3417A>G (p.Leu1139=) c.3267A>G (p.Leu1089=) c.3264A>G (p.Leu1088=) c.3249A>G (p.Leu1083=) c.3144A>G (p.Leu1048=) c.3141A>G (p.Leu1047=) c.3108A>G (p.Leu1036=) c.2958A>G (p.Leu986=) c.2442A>G (p.Leu814=) n.3572A>G c.3381A>G (p.Leu1127=) c.3213A>G (p.Leu1071=) c.2940A>G (p.Leu980=) c.2790A>G (p.Leu930=) | |
2 | g.208326210A>T | CA431117664 | PIKFYVE | c.3399A>T (p.Leu1133=) c.3231A>T (p.Leu1077=) c.3435A>T (p.Leu1145=) c.3432A>T (p.Leu1144=) c.3417A>T (p.Leu1139=) c.3267A>T (p.Leu1089=) c.3264A>T (p.Leu1088=) c.3249A>T (p.Leu1083=) c.3144A>T (p.Leu1048=) c.3141A>T (p.Leu1047=) c.3108A>T (p.Leu1036=) c.2958A>T (p.Leu986=) c.2442A>T (p.Leu814=) n.3572A>T c.3381A>T (p.Leu1127=) c.3213A>T (p.Leu1071=) c.2940A>T (p.Leu980=) c.2790A>T (p.Leu930=) | |
2 | g.208326211G>A | CA350115455 | PIKFYVE | c.3400G>A (p.Val1134Met) c.3232G>A (p.Val1078Met) c.3436G>A (p.Val1146Met) c.3433G>A (p.Val1145Met) c.3418G>A (p.Val1140Met) c.3268G>A (p.Val1090Met) c.3265G>A (p.Val1089Met) c.3250G>A (p.Val1084Met) c.3145G>A (p.Val1049Met) c.3142G>A (p.Val1048Met) c.3109G>A (p.Val1037Met) c.2959G>A (p.Val987Met) c.2443G>A (p.Val815Met) n.3573G>A c.3382G>A (p.Val1128Met) c.3214G>A (p.Val1072Met) c.2941G>A (p.Val981Met) c.2791G>A (p.Val931Met) | |
2 | g.208326211G>C | CA350115457 | PIKFYVE | c.3400G>C (p.Val1134Leu) c.3232G>C (p.Val1078Leu) c.3436G>C (p.Val1146Leu) c.3433G>C (p.Val1145Leu) c.3418G>C (p.Val1140Leu) c.3268G>C (p.Val1090Leu) c.3265G>C (p.Val1089Leu) c.3250G>C (p.Val1084Leu) c.3145G>C (p.Val1049Leu) c.3142G>C (p.Val1048Leu) c.3109G>C (p.Val1037Leu) c.2959G>C (p.Val987Leu) c.2443G>C (p.Val815Leu) n.3573G>C c.3382G>C (p.Val1128Leu) c.3214G>C (p.Val1072Leu) c.2941G>C (p.Val981Leu) c.2791G>C (p.Val931Leu) | gnomAD v4 |
2 | g.208326211G>T | CA350115456 | PIKFYVE | c.3400G>T (p.Val1134Leu) c.3232G>T (p.Val1078Leu) c.3436G>T (p.Val1146Leu) c.3433G>T (p.Val1145Leu) c.3418G>T (p.Val1140Leu) c.3268G>T (p.Val1090Leu) c.3265G>T (p.Val1089Leu) c.3250G>T (p.Val1084Leu) c.3145G>T (p.Val1049Leu) c.3142G>T (p.Val1048Leu) c.3109G>T (p.Val1037Leu) c.2959G>T (p.Val987Leu) c.2443G>T (p.Val815Leu) n.3573G>T c.3382G>T (p.Val1128Leu) c.3214G>T (p.Val1072Leu) c.2941G>T (p.Val981Leu) c.2791G>T (p.Val931Leu) | |
2 | g.208326212T>A | CA350115458 | PIKFYVE | c.3401T>A (p.Val1134Glu) c.3233T>A (p.Val1078Glu) c.3437T>A (p.Val1146Glu) c.3434T>A (p.Val1145Glu) c.3419T>A (p.Val1140Glu) c.3269T>A (p.Val1090Glu) c.3266T>A (p.Val1089Glu) c.3251T>A (p.Val1084Glu) c.3146T>A (p.Val1049Glu) c.3143T>A (p.Val1048Glu) c.3110T>A (p.Val1037Glu) c.2960T>A (p.Val987Glu) c.2444T>A (p.Val815Glu) n.3574T>A c.3383T>A (p.Val1128Glu) c.3215T>A (p.Val1072Glu) c.2942T>A (p.Val981Glu) c.2792T>A (p.Val931Glu) | |
2 | g.208326212T>C | CA350115459 | PIKFYVE | c.3401T>C (p.Val1134Ala) c.3233T>C (p.Val1078Ala) c.3437T>C (p.Val1146Ala) c.3434T>C (p.Val1145Ala) c.3419T>C (p.Val1140Ala) c.3269T>C (p.Val1090Ala) c.3266T>C (p.Val1089Ala) c.3251T>C (p.Val1084Ala) c.3146T>C (p.Val1049Ala) c.3143T>C (p.Val1048Ala) c.3110T>C (p.Val1037Ala) c.2960T>C (p.Val987Ala) c.2444T>C (p.Val815Ala) n.3574T>C c.3383T>C (p.Val1128Ala) c.3215T>C (p.Val1072Ala) c.2942T>C (p.Val981Ala) c.2792T>C (p.Val931Ala) | gnomAD v4 |
2 | g.208326212T>G | CA350115460 | PIKFYVE | c.3401T>G (p.Val1134Gly) c.3233T>G (p.Val1078Gly) c.3437T>G (p.Val1146Gly) c.3434T>G (p.Val1145Gly) c.3419T>G (p.Val1140Gly) c.3269T>G (p.Val1090Gly) c.3266T>G (p.Val1089Gly) c.3251T>G (p.Val1084Gly) c.3146T>G (p.Val1049Gly) c.3143T>G (p.Val1048Gly) c.3110T>G (p.Val1037Gly) c.2960T>G (p.Val987Gly) c.2444T>G (p.Val815Gly) n.3574T>G c.3383T>G (p.Val1128Gly) c.3215T>G (p.Val1072Gly) c.2942T>G (p.Val981Gly) c.2792T>G (p.Val931Gly) | |
2 | g.208326213G>A | CA431117669 | PIKFYVE | c.3402G>A (p.Val1134=) c.3234G>A (p.Val1078=) c.3438G>A (p.Val1146=) c.3435G>A (p.Val1145=) c.3420G>A (p.Val1140=) c.3270G>A (p.Val1090=) c.3267G>A (p.Val1089=) c.3252G>A (p.Val1084=) c.3147G>A (p.Val1049=) c.3144G>A (p.Val1048=) c.3111G>A (p.Val1037=) c.2961G>A (p.Val987=) c.2445G>A (p.Val815=) n.3575G>A c.3384G>A (p.Val1128=) c.3216G>A (p.Val1072=) c.2943G>A (p.Val981=) c.2793G>A (p.Val931=) | |
2 | g.208326213G>C | CA431117670 | PIKFYVE | c.3402G>C (p.Val1134=) c.3234G>C (p.Val1078=) c.3438G>C (p.Val1146=) c.3435G>C (p.Val1145=) c.3420G>C (p.Val1140=) c.3270G>C (p.Val1090=) c.3267G>C (p.Val1089=) c.3252G>C (p.Val1084=) c.3147G>C (p.Val1049=) c.3144G>C (p.Val1048=) c.3111G>C (p.Val1037=) c.2961G>C (p.Val987=) c.2445G>C (p.Val815=) n.3575G>C c.3384G>C (p.Val1128=) c.3216G>C (p.Val1072=) c.2943G>C (p.Val981=) c.2793G>C (p.Val931=) | |
2 | g.208326213G>T | CA431117671 | PIKFYVE | c.3402G>T (p.Val1134=) c.3234G>T (p.Val1078=) c.3438G>T (p.Val1146=) c.3435G>T (p.Val1145=) c.3420G>T (p.Val1140=) c.3270G>T (p.Val1090=) c.3267G>T (p.Val1089=) c.3252G>T (p.Val1084=) c.3147G>T (p.Val1049=) c.3144G>T (p.Val1048=) c.3111G>T (p.Val1037=) c.2961G>T (p.Val987=) c.2445G>T (p.Val815=) n.3575G>T c.3384G>T (p.Val1128=) c.3216G>T (p.Val1072=) c.2943G>T (p.Val981=) c.2793G>T (p.Val931=) | |
2 | g.208326214A>C | CA350115461 | PIKFYVE | c.3403A>C (p.Ser1135Arg) c.3235A>C (p.Ser1079Arg) c.3439A>C (p.Ser1147Arg) c.3436A>C (p.Ser1146Arg) c.3421A>C (p.Ser1141Arg) c.3271A>C (p.Ser1091Arg) c.3268A>C (p.Ser1090Arg) c.3253A>C (p.Ser1085Arg) c.3148A>C (p.Ser1050Arg) c.3145A>C (p.Ser1049Arg) c.3112A>C (p.Ser1038Arg) c.2962A>C (p.Ser988Arg) c.2446A>C (p.Ser816Arg) n.3576A>C c.3385A>C (p.Ser1129Arg) c.3217A>C (p.Ser1073Arg) c.2944A>C (p.Ser982Arg) c.2794A>C (p.Ser932Arg) | |
2 | g.208326214A>G | CA350115462 | PIKFYVE | c.3403A>G (p.Ser1135Gly) c.3235A>G (p.Ser1079Gly) c.3439A>G (p.Ser1147Gly) c.3436A>G (p.Ser1146Gly) c.3421A>G (p.Ser1141Gly) c.3271A>G (p.Ser1091Gly) c.3268A>G (p.Ser1090Gly) c.3253A>G (p.Ser1085Gly) c.3148A>G (p.Ser1050Gly) c.3145A>G (p.Ser1049Gly) c.3112A>G (p.Ser1038Gly) c.2962A>G (p.Ser988Gly) c.2446A>G (p.Ser816Gly) n.3576A>G c.3385A>G (p.Ser1129Gly) c.3217A>G (p.Ser1073Gly) c.2944A>G (p.Ser982Gly) c.2794A>G (p.Ser932Gly) | |
2 | g.208326214A>T | CA350115463 | PIKFYVE | c.3403A>T (p.Ser1135Cys) c.3235A>T (p.Ser1079Cys) c.3439A>T (p.Ser1147Cys) c.3436A>T (p.Ser1146Cys) c.3421A>T (p.Ser1141Cys) c.3271A>T (p.Ser1091Cys) c.3268A>T (p.Ser1090Cys) c.3253A>T (p.Ser1085Cys) c.3148A>T (p.Ser1050Cys) c.3145A>T (p.Ser1049Cys) c.3112A>T (p.Ser1038Cys) c.2962A>T (p.Ser988Cys) c.2446A>T (p.Ser816Cys) n.3576A>T c.3385A>T (p.Ser1129Cys) c.3217A>T (p.Ser1073Cys) c.2944A>T (p.Ser982Cys) c.2794A>T (p.Ser932Cys) | |
2 | g.208326215G>A | CA350115464 | PIKFYVE | c.3404G>A (p.Ser1135Asn) c.3236G>A (p.Ser1079Asn) c.3440G>A (p.Ser1147Asn) c.3437G>A (p.Ser1146Asn) c.3422G>A (p.Ser1141Asn) c.3272G>A (p.Ser1091Asn) c.3269G>A (p.Ser1090Asn) c.3254G>A (p.Ser1085Asn) c.3149G>A (p.Ser1050Asn) c.3146G>A (p.Ser1049Asn) c.3113G>A (p.Ser1038Asn) c.2963G>A (p.Ser988Asn) c.2447G>A (p.Ser816Asn) n.3577G>A c.3386G>A (p.Ser1129Asn) c.3218G>A (p.Ser1073Asn) c.2945G>A (p.Ser982Asn) c.2795G>A (p.Ser932Asn) | |
2 | g.208326215G>C | CA350115465 | PIKFYVE | c.3404G>C (p.Ser1135Thr) c.3236G>C (p.Ser1079Thr) c.3440G>C (p.Ser1147Thr) c.3437G>C (p.Ser1146Thr) c.3422G>C (p.Ser1141Thr) c.3272G>C (p.Ser1091Thr) c.3269G>C (p.Ser1090Thr) c.3254G>C (p.Ser1085Thr) c.3149G>C (p.Ser1050Thr) c.3146G>C (p.Ser1049Thr) c.3113G>C (p.Ser1038Thr) c.2963G>C (p.Ser988Thr) c.2447G>C (p.Ser816Thr) n.3577G>C c.3386G>C (p.Ser1129Thr) c.3218G>C (p.Ser1073Thr) c.2945G>C (p.Ser982Thr) c.2795G>C (p.Ser932Thr) | |
2 | g.208326215G>T | CA350115466 | PIKFYVE | c.3404G>T (p.Ser1135Ile) c.3236G>T (p.Ser1079Ile) c.3440G>T (p.Ser1147Ile) c.3437G>T (p.Ser1146Ile) c.3422G>T (p.Ser1141Ile) c.3272G>T (p.Ser1091Ile) c.3269G>T (p.Ser1090Ile) c.3254G>T (p.Ser1085Ile) c.3149G>T (p.Ser1050Ile) c.3146G>T (p.Ser1049Ile) c.3113G>T (p.Ser1038Ile) c.2963G>T (p.Ser988Ile) c.2447G>T (p.Ser816Ile) n.3577G>T c.3386G>T (p.Ser1129Ile) c.3218G>T (p.Ser1073Ile) c.2945G>T (p.Ser982Ile) c.2795G>T (p.Ser932Ile) | gnomAD v4 |
2 | g.208326216C>A | CA350115467 | PIKFYVE | c.3405C>A (p.Ser1135Arg) c.3237C>A (p.Ser1079Arg) c.3441C>A (p.Ser1147Arg) c.3438C>A (p.Ser1146Arg) c.3423C>A (p.Ser1141Arg) c.3273C>A (p.Ser1091Arg) c.3270C>A (p.Ser1090Arg) c.3255C>A (p.Ser1085Arg) c.3150C>A (p.Ser1050Arg) c.3147C>A (p.Ser1049Arg) c.3114C>A (p.Ser1038Arg) c.2964C>A (p.Ser988Arg) c.2448C>A (p.Ser816Arg) n.3578C>A c.3387C>A (p.Ser1129Arg) c.3219C>A (p.Ser1073Arg) c.2946C>A (p.Ser982Arg) c.2796C>A (p.Ser932Arg) | dbSNP |
2 | g.208326216C= | CA1324023416 | PIKFYVE | c.3405C= (p.Ser1135=) c.3237C= (p.Ser1079=) c.3441C= (p.Ser1147=) c.3438C= (p.Ser1146=) c.3423C= (p.Ser1141=) c.3273C= (p.Ser1091=) c.3270C= (p.Ser1090=) c.3255C= (p.Ser1085=) c.3150C= (p.Ser1050=) c.3147C= (p.Ser1049=) c.3114C= (p.Ser1038=) c.2964C= (p.Ser988=) c.2448C= (p.Ser816=) n.3578C= c.3387C= (p.Ser1129=) c.3219C= (p.Ser1073=) c.2946C= (p.Ser982=) c.2796C= (p.Ser932=) | |
2 | g.208326216C>G | CA350115468 | PIKFYVE | c.3405C>G (p.Ser1135Arg) c.3237C>G (p.Ser1079Arg) c.3441C>G (p.Ser1147Arg) c.3438C>G (p.Ser1146Arg) c.3423C>G (p.Ser1141Arg) c.3273C>G (p.Ser1091Arg) c.3270C>G (p.Ser1090Arg) c.3255C>G (p.Ser1085Arg) c.3150C>G (p.Ser1050Arg) c.3147C>G (p.Ser1049Arg) c.3114C>G (p.Ser1038Arg) c.2964C>G (p.Ser988Arg) c.2448C>G (p.Ser816Arg) n.3578C>G c.3387C>G (p.Ser1129Arg) c.3219C>G (p.Ser1073Arg) c.2946C>G (p.Ser982Arg) c.2796C>G (p.Ser932Arg) | |
2 | g.208326216C>T | CA431117673 | PIKFYVE | c.3405C>T (p.Ser1135=) c.3237C>T (p.Ser1079=) c.3441C>T (p.Ser1147=) c.3438C>T (p.Ser1146=) c.3423C>T (p.Ser1141=) c.3273C>T (p.Ser1091=) c.3270C>T (p.Ser1090=) c.3255C>T (p.Ser1085=) c.3150C>T (p.Ser1050=) c.3147C>T (p.Ser1049=) c.3114C>T (p.Ser1038=) c.2964C>T (p.Ser988=) c.2448C>T (p.Ser816=) n.3578C>T c.3387C>T (p.Ser1129=) c.3219C>T (p.Ser1073=) c.2946C>T (p.Ser982=) c.2796C>T (p.Ser932=) | |
2 | g.208326217A>C | CA350115471 | PIKFYVE | c.3406A>C (p.Thr1136Pro) c.3238A>C (p.Thr1080Pro) c.3442A>C (p.Thr1148Pro) c.3439A>C (p.Thr1147Pro) c.3424A>C (p.Thr1142Pro) c.3274A>C (p.Thr1092Pro) c.3271A>C (p.Thr1091Pro) c.3256A>C (p.Thr1086Pro) c.3151A>C (p.Thr1051Pro) c.3148A>C (p.Thr1050Pro) c.3115A>C (p.Thr1039Pro) c.2965A>C (p.Thr989Pro) c.2449A>C (p.Thr817Pro) n.3579A>C c.3388A>C (p.Thr1130Pro) c.3220A>C (p.Thr1074Pro) c.2947A>C (p.Thr983Pro) c.2797A>C (p.Thr933Pro) | |
2 | g.208326217A>G | CA350115469 | PIKFYVE | c.3406A>G (p.Thr1136Ala) c.3238A>G (p.Thr1080Ala) c.3442A>G (p.Thr1148Ala) c.3439A>G (p.Thr1147Ala) c.3424A>G (p.Thr1142Ala) c.3274A>G (p.Thr1092Ala) c.3271A>G (p.Thr1091Ala) c.3256A>G (p.Thr1086Ala) c.3151A>G (p.Thr1051Ala) c.3148A>G (p.Thr1050Ala) c.3115A>G (p.Thr1039Ala) c.2965A>G (p.Thr989Ala) c.2449A>G (p.Thr817Ala) n.3579A>G c.3388A>G (p.Thr1130Ala) c.3220A>G (p.Thr1074Ala) c.2947A>G (p.Thr983Ala) c.2797A>G (p.Thr933Ala) | |
2 | g.208326217A>T | CA350115470 | PIKFYVE | c.3406A>T (p.Thr1136Ser) c.3238A>T (p.Thr1080Ser) c.3442A>T (p.Thr1148Ser) c.3439A>T (p.Thr1147Ser) c.3424A>T (p.Thr1142Ser) c.3274A>T (p.Thr1092Ser) c.3271A>T (p.Thr1091Ser) c.3256A>T (p.Thr1086Ser) c.3151A>T (p.Thr1051Ser) c.3148A>T (p.Thr1050Ser) c.3115A>T (p.Thr1039Ser) c.2965A>T (p.Thr989Ser) c.2449A>T (p.Thr817Ser) n.3579A>T c.3388A>T (p.Thr1130Ser) c.3220A>T (p.Thr1074Ser) c.2947A>T (p.Thr983Ser) c.2797A>T (p.Thr933Ser) | |
2 | g.208326218C>A | CA350115472 | PIKFYVE | c.3407C>A (p.Thr1136Asn) c.3239C>A (p.Thr1080Asn) c.3443C>A (p.Thr1148Asn) c.3440C>A (p.Thr1147Asn) c.3425C>A (p.Thr1142Asn) c.3275C>A (p.Thr1092Asn) c.3272C>A (p.Thr1091Asn) c.3257C>A (p.Thr1086Asn) c.3152C>A (p.Thr1051Asn) c.3149C>A (p.Thr1050Asn) c.3116C>A (p.Thr1039Asn) c.2966C>A (p.Thr989Asn) c.2450C>A (p.Thr817Asn) n.3580C>A c.3389C>A (p.Thr1130Asn) c.3221C>A (p.Thr1074Asn) c.2948C>A (p.Thr983Asn) c.2798C>A (p.Thr933Asn) | |
2 | g.208326218C= | CA1324023417 | PIKFYVE | c.3407C= (p.Thr1136=) c.3239C= (p.Thr1080=) c.3443C= (p.Thr1148=) c.3440C= (p.Thr1147=) c.3425C= (p.Thr1142=) c.3275C= (p.Thr1092=) c.3272C= (p.Thr1091=) c.3257C= (p.Thr1086=) c.3152C= (p.Thr1051=) c.3149C= (p.Thr1050=) c.3116C= (p.Thr1039=) c.2966C= (p.Thr989=) c.2450C= (p.Thr817=) n.3580C= c.3389C= (p.Thr1130=) c.3221C= (p.Thr1074=) c.2948C= (p.Thr983=) c.2798C= (p.Thr933=) | |
2 | g.208326218C>G | CA350115473 | PIKFYVE | c.3407C>G (p.Thr1136Ser) c.3239C>G (p.Thr1080Ser) c.3443C>G (p.Thr1148Ser) c.3440C>G (p.Thr1147Ser) c.3425C>G (p.Thr1142Ser) c.3275C>G (p.Thr1092Ser) c.3272C>G (p.Thr1091Ser) c.3257C>G (p.Thr1086Ser) c.3152C>G (p.Thr1051Ser) c.3149C>G (p.Thr1050Ser) c.3116C>G (p.Thr1039Ser) c.2966C>G (p.Thr989Ser) c.2450C>G (p.Thr817Ser) n.3580C>G c.3389C>G (p.Thr1130Ser) c.3221C>G (p.Thr1074Ser) c.2948C>G (p.Thr983Ser) c.2798C>G (p.Thr933Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.208326218C>T | CA350115474 | PIKFYVE | c.3407C>T (p.Thr1136Ile) c.3239C>T (p.Thr1080Ile) c.3443C>T (p.Thr1148Ile) c.3440C>T (p.Thr1147Ile) c.3425C>T (p.Thr1142Ile) c.3275C>T (p.Thr1092Ile) c.3272C>T (p.Thr1091Ile) c.3257C>T (p.Thr1086Ile) c.3152C>T (p.Thr1051Ile) c.3149C>T (p.Thr1050Ile) c.3116C>T (p.Thr1039Ile) c.2966C>T (p.Thr989Ile) c.2450C>T (p.Thr817Ile) n.3580C>T c.3389C>T (p.Thr1130Ile) c.3221C>T (p.Thr1074Ile) c.2948C>T (p.Thr983Ile) c.2798C>T (p.Thr933Ile) | |
2 | g.208326219T>A | CA431117680 | PIKFYVE | c.3408T>A (p.Thr1136=) c.3240T>A (p.Thr1080=) c.3444T>A (p.Thr1148=) c.3441T>A (p.Thr1147=) c.3426T>A (p.Thr1142=) c.3276T>A (p.Thr1092=) c.3273T>A (p.Thr1091=) c.3258T>A (p.Thr1086=) c.3153T>A (p.Thr1051=) c.3150T>A (p.Thr1050=) c.3117T>A (p.Thr1039=) c.2967T>A (p.Thr989=) c.2451T>A (p.Thr817=) n.3581T>A c.3390T>A (p.Thr1130=) c.3222T>A (p.Thr1074=) c.2949T>A (p.Thr983=) c.2799T>A (p.Thr933=) | |
2 | g.208326219T>C | CA431117681 | PIKFYVE | c.3408T>C (p.Thr1136=) c.3240T>C (p.Thr1080=) c.3444T>C (p.Thr1148=) c.3441T>C (p.Thr1147=) c.3426T>C (p.Thr1142=) c.3276T>C (p.Thr1092=) c.3273T>C (p.Thr1091=) c.3258T>C (p.Thr1086=) c.3153T>C (p.Thr1051=) c.3150T>C (p.Thr1050=) c.3117T>C (p.Thr1039=) c.2967T>C (p.Thr989=) c.2451T>C (p.Thr817=) n.3581T>C c.3390T>C (p.Thr1130=) c.3222T>C (p.Thr1074=) c.2949T>C (p.Thr983=) c.2799T>C (p.Thr933=) | |
2 | g.208326219T>G | CA431117682 | PIKFYVE | c.3408T>G (p.Thr1136=) c.3240T>G (p.Thr1080=) c.3444T>G (p.Thr1148=) c.3441T>G (p.Thr1147=) c.3426T>G (p.Thr1142=) c.3276T>G (p.Thr1092=) c.3273T>G (p.Thr1091=) c.3258T>G (p.Thr1086=) c.3153T>G (p.Thr1051=) c.3150T>G (p.Thr1050=) c.3117T>G (p.Thr1039=) c.2967T>G (p.Thr989=) c.2451T>G (p.Thr817=) n.3581T>G c.3390T>G (p.Thr1130=) c.3222T>G (p.Thr1074=) c.2949T>G (p.Thr983=) c.2799T>G (p.Thr933=) | |
2 | g.208326220A= | CA1324023418 | PIKFYVE | c.3409A= (p.Arg1137=) c.3241A= (p.Arg1081=) c.3445A= (p.Arg1149=) c.3442A= (p.Arg1148=) c.3427A= (p.Arg1143=) c.3277A= (p.Arg1093=) c.3274A= (p.Arg1092=) c.3259A= (p.Arg1087=) c.3154A= (p.Arg1052=) c.3151A= (p.Arg1051=) c.3118A= (p.Arg1040=) c.2968A= (p.Arg990=) c.2452A= (p.Arg818=) n.3582A= c.3391A= (p.Arg1131=) c.3223A= (p.Arg1075=) c.2950A= (p.Arg984=) c.2800A= (p.Arg934=) | |
2 | g.208326220A>C | CA431117683 | PIKFYVE | c.3409A>C (p.Arg1137=) c.3241A>C (p.Arg1081=) c.3445A>C (p.Arg1149=) c.3442A>C (p.Arg1148=) c.3427A>C (p.Arg1143=) c.3277A>C (p.Arg1093=) c.3274A>C (p.Arg1092=) c.3259A>C (p.Arg1087=) c.3154A>C (p.Arg1052=) c.3151A>C (p.Arg1051=) c.3118A>C (p.Arg1040=) c.2968A>C (p.Arg990=) c.2452A>C (p.Arg818=) n.3582A>C c.3391A>C (p.Arg1131=) c.3223A>C (p.Arg1075=) c.2950A>C (p.Arg984=) c.2800A>C (p.Arg934=) | |
2 | g.208326220A>G | CA350115475 | PIKFYVE | c.3409A>G (p.Arg1137Gly) c.3241A>G (p.Arg1081Gly) c.3445A>G (p.Arg1149Gly) c.3442A>G (p.Arg1148Gly) c.3427A>G (p.Arg1143Gly) c.3277A>G (p.Arg1093Gly) c.3274A>G (p.Arg1092Gly) c.3259A>G (p.Arg1087Gly) c.3154A>G (p.Arg1052Gly) c.3151A>G (p.Arg1051Gly) c.3118A>G (p.Arg1040Gly) c.2968A>G (p.Arg990Gly) c.2452A>G (p.Arg818Gly) n.3582A>G c.3391A>G (p.Arg1131Gly) c.3223A>G (p.Arg1075Gly) c.2950A>G (p.Arg984Gly) c.2800A>G (p.Arg934Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208326220A>T | CA350115476 | PIKFYVE | c.3409A>T (p.Arg1137Ter) c.3241A>T (p.Arg1081Ter) c.3445A>T (p.Arg1149Ter) c.3442A>T (p.Arg1148Ter) c.3427A>T (p.Arg1143Ter) c.3277A>T (p.Arg1093Ter) c.3274A>T (p.Arg1092Ter) c.3259A>T (p.Arg1087Ter) c.3154A>T (p.Arg1052Ter) c.3151A>T (p.Arg1051Ter) c.3118A>T (p.Arg1040Ter) c.2968A>T (p.Arg990Ter) c.2452A>T (p.Arg818Ter) n.3582A>T c.3391A>T (p.Arg1131Ter) c.3223A>T (p.Arg1075Ter) c.2950A>T (p.Arg984Ter) c.2800A>T (p.Arg934Ter) | |
2 | g.208326221G>A | CA350115477 | PIKFYVE | c.3410G>A (p.Arg1137Lys) c.3242G>A (p.Arg1081Lys) c.3446G>A (p.Arg1149Lys) c.3443G>A (p.Arg1148Lys) c.3428G>A (p.Arg1143Lys) c.3278G>A (p.Arg1093Lys) c.3275G>A (p.Arg1092Lys) c.3260G>A (p.Arg1087Lys) c.3155G>A (p.Arg1052Lys) c.3152G>A (p.Arg1051Lys) c.3119G>A (p.Arg1040Lys) c.2969G>A (p.Arg990Lys) c.2453G>A (p.Arg818Lys) n.3583G>A c.3392G>A (p.Arg1131Lys) c.3224G>A (p.Arg1075Lys) c.2951G>A (p.Arg984Lys) c.2801G>A (p.Arg934Lys) | |
2 | g.208326221G>C | CA350115478 | PIKFYVE | c.3410G>C (p.Arg1137Thr) c.3242G>C (p.Arg1081Thr) c.3446G>C (p.Arg1149Thr) c.3443G>C (p.Arg1148Thr) c.3428G>C (p.Arg1143Thr) c.3278G>C (p.Arg1093Thr) c.3275G>C (p.Arg1092Thr) c.3260G>C (p.Arg1087Thr) c.3155G>C (p.Arg1052Thr) c.3152G>C (p.Arg1051Thr) c.3119G>C (p.Arg1040Thr) c.2969G>C (p.Arg990Thr) c.2453G>C (p.Arg818Thr) n.3583G>C c.3392G>C (p.Arg1131Thr) c.3224G>C (p.Arg1075Thr) c.2951G>C (p.Arg984Thr) c.2801G>C (p.Arg934Thr) | |
2 | g.208326221G>T | CA350115479 | PIKFYVE | c.3410G>T (p.Arg1137Ile) c.3242G>T (p.Arg1081Ile) c.3446G>T (p.Arg1149Ile) c.3443G>T (p.Arg1148Ile) c.3428G>T (p.Arg1143Ile) c.3278G>T (p.Arg1093Ile) c.3275G>T (p.Arg1092Ile) c.3260G>T (p.Arg1087Ile) c.3155G>T (p.Arg1052Ile) c.3152G>T (p.Arg1051Ile) c.3119G>T (p.Arg1040Ile) c.2969G>T (p.Arg990Ile) c.2453G>T (p.Arg818Ile) n.3583G>T c.3392G>T (p.Arg1131Ile) c.3224G>T (p.Arg1075Ile) c.2951G>T (p.Arg984Ile) c.2801G>T (p.Arg934Ile) | |
2 | g.208326222A>C | CA350115480 | PIKFYVE | c.3411A>C (p.Arg1137Ser) c.3243A>C (p.Arg1081Ser) c.3447A>C (p.Arg1149Ser) c.3444A>C (p.Arg1148Ser) c.3429A>C (p.Arg1143Ser) c.3279A>C (p.Arg1093Ser) c.3276A>C (p.Arg1092Ser) c.3261A>C (p.Arg1087Ser) c.3156A>C (p.Arg1052Ser) c.3153A>C (p.Arg1051Ser) c.3120A>C (p.Arg1040Ser) c.2970A>C (p.Arg990Ser) c.2454A>C (p.Arg818Ser) n.3584A>C c.3393A>C (p.Arg1131Ser) c.3225A>C (p.Arg1075Ser) c.2952A>C (p.Arg984Ser) c.2802A>C (p.Arg934Ser) | |
2 | g.208326222A>G | CA431117685 | PIKFYVE | c.3411A>G (p.Arg1137=) c.3243A>G (p.Arg1081=) c.3447A>G (p.Arg1149=) c.3444A>G (p.Arg1148=) c.3429A>G (p.Arg1143=) c.3279A>G (p.Arg1093=) c.3276A>G (p.Arg1092=) c.3261A>G (p.Arg1087=) c.3156A>G (p.Arg1052=) c.3153A>G (p.Arg1051=) c.3120A>G (p.Arg1040=) c.2970A>G (p.Arg990=) c.2454A>G (p.Arg818=) n.3584A>G c.3393A>G (p.Arg1131=) c.3225A>G (p.Arg1075=) c.2952A>G (p.Arg984=) c.2802A>G (p.Arg934=) | |
2 | g.208326222A>T | CA350115481 | PIKFYVE | c.3411A>T (p.Arg1137Ser) c.3243A>T (p.Arg1081Ser) c.3447A>T (p.Arg1149Ser) c.3444A>T (p.Arg1148Ser) c.3429A>T (p.Arg1143Ser) c.3279A>T (p.Arg1093Ser) c.3276A>T (p.Arg1092Ser) c.3261A>T (p.Arg1087Ser) c.3156A>T (p.Arg1052Ser) c.3153A>T (p.Arg1051Ser) c.3120A>T (p.Arg1040Ser) c.2970A>T (p.Arg990Ser) c.2454A>T (p.Arg818Ser) n.3584A>T c.3393A>T (p.Arg1131Ser) c.3225A>T (p.Arg1075Ser) c.2952A>T (p.Arg984Ser) c.2802A>T (p.Arg934Ser) | |
2 | g.208326223A>C | CA350115482 | PIKFYVE | c.3412A>C (p.Ile1138Leu) c.3244A>C (p.Ile1082Leu) c.3448A>C (p.Ile1150Leu) c.3445A>C (p.Ile1149Leu) c.3430A>C (p.Ile1144Leu) c.3280A>C (p.Ile1094Leu) c.3277A>C (p.Ile1093Leu) c.3262A>C (p.Ile1088Leu) c.3157A>C (p.Ile1053Leu) c.3154A>C (p.Ile1052Leu) c.3121A>C (p.Ile1041Leu) c.2971A>C (p.Ile991Leu) c.2455A>C (p.Ile819Leu) n.3585A>C c.3394A>C (p.Ile1132Leu) c.3226A>C (p.Ile1076Leu) c.2953A>C (p.Ile985Leu) c.2803A>C (p.Ile935Leu) | |
2 | g.208326223A>G | CA350115483 | PIKFYVE | c.3412A>G (p.Ile1138Val) c.3244A>G (p.Ile1082Val) c.3448A>G (p.Ile1150Val) c.3445A>G (p.Ile1149Val) c.3430A>G (p.Ile1144Val) c.3280A>G (p.Ile1094Val) c.3277A>G (p.Ile1093Val) c.3262A>G (p.Ile1088Val) c.3157A>G (p.Ile1053Val) c.3154A>G (p.Ile1052Val) c.3121A>G (p.Ile1041Val) c.2971A>G (p.Ile991Val) c.2455A>G (p.Ile819Val) n.3585A>G c.3394A>G (p.Ile1132Val) c.3226A>G (p.Ile1076Val) c.2953A>G (p.Ile985Val) c.2803A>G (p.Ile935Val) | |
2 | g.208326223A>T | CA350115484 | PIKFYVE | c.3412A>T (p.Ile1138Phe) c.3244A>T (p.Ile1082Phe) c.3448A>T (p.Ile1150Phe) c.3445A>T (p.Ile1149Phe) c.3430A>T (p.Ile1144Phe) c.3280A>T (p.Ile1094Phe) c.3277A>T (p.Ile1093Phe) c.3262A>T (p.Ile1088Phe) c.3157A>T (p.Ile1053Phe) c.3154A>T (p.Ile1052Phe) c.3121A>T (p.Ile1041Phe) c.2971A>T (p.Ile991Phe) c.2455A>T (p.Ile819Phe) n.3585A>T c.3394A>T (p.Ile1132Phe) c.3226A>T (p.Ile1076Phe) c.2953A>T (p.Ile985Phe) c.2803A>T (p.Ile935Phe) | |
2 | g.208326224T>A | CA350115487 | PIKFYVE | c.3413T>A (p.Ile1138Asn) c.3245T>A (p.Ile1082Asn) c.3449T>A (p.Ile1150Asn) c.3446T>A (p.Ile1149Asn) c.3431T>A (p.Ile1144Asn) c.3281T>A (p.Ile1094Asn) c.3278T>A (p.Ile1093Asn) c.3263T>A (p.Ile1088Asn) c.3158T>A (p.Ile1053Asn) c.3155T>A (p.Ile1052Asn) c.3122T>A (p.Ile1041Asn) c.2972T>A (p.Ile991Asn) c.2456T>A (p.Ile819Asn) n.3586T>A c.3395T>A (p.Ile1132Asn) c.3227T>A (p.Ile1076Asn) c.2954T>A (p.Ile985Asn) c.2804T>A (p.Ile935Asn) | |
2 | g.208326224T>C | CA350115485 | PIKFYVE | c.3413T>C (p.Ile1138Thr) c.3245T>C (p.Ile1082Thr) c.3449T>C (p.Ile1150Thr) c.3446T>C (p.Ile1149Thr) c.3431T>C (p.Ile1144Thr) c.3281T>C (p.Ile1094Thr) c.3278T>C (p.Ile1093Thr) c.3263T>C (p.Ile1088Thr) c.3158T>C (p.Ile1053Thr) c.3155T>C (p.Ile1052Thr) c.3122T>C (p.Ile1041Thr) c.2972T>C (p.Ile991Thr) c.2456T>C (p.Ile819Thr) n.3586T>C c.3395T>C (p.Ile1132Thr) c.3227T>C (p.Ile1076Thr) c.2954T>C (p.Ile985Thr) c.2804T>C (p.Ile935Thr) | gnomAD v4 |
2 | g.208326224T>G | CA350115486 | PIKFYVE | c.3413T>G (p.Ile1138Ser) c.3245T>G (p.Ile1082Ser) c.3449T>G (p.Ile1150Ser) c.3446T>G (p.Ile1149Ser) c.3431T>G (p.Ile1144Ser) c.3281T>G (p.Ile1094Ser) c.3278T>G (p.Ile1093Ser) c.3263T>G (p.Ile1088Ser) c.3158T>G (p.Ile1053Ser) c.3155T>G (p.Ile1052Ser) c.3122T>G (p.Ile1041Ser) c.2972T>G (p.Ile991Ser) c.2456T>G (p.Ile819Ser) n.3586T>G c.3395T>G (p.Ile1132Ser) c.3227T>G (p.Ile1076Ser) c.2954T>G (p.Ile985Ser) c.2804T>G (p.Ile935Ser) | |
2 | g.208326225T>A | CA431117691 | PIKFYVE | c.3414T>A (p.Ile1138=) c.3246T>A (p.Ile1082=) c.3450T>A (p.Ile1150=) c.3447T>A (p.Ile1149=) c.3432T>A (p.Ile1144=) c.3282T>A (p.Ile1094=) c.3279T>A (p.Ile1093=) c.3264T>A (p.Ile1088=) c.3159T>A (p.Ile1053=) c.3156T>A (p.Ile1052=) c.3123T>A (p.Ile1041=) c.2973T>A (p.Ile991=) c.2457T>A (p.Ile819=) n.3587T>A c.3396T>A (p.Ile1132=) c.3228T>A (p.Ile1076=) c.2955T>A (p.Ile985=) c.2805T>A (p.Ile935=) | |
2 | g.208326225T>C | CA431117692 | PIKFYVE | c.3414T>C (p.Ile1138=) c.3246T>C (p.Ile1082=) c.3450T>C (p.Ile1150=) c.3447T>C (p.Ile1149=) c.3432T>C (p.Ile1144=) c.3282T>C (p.Ile1094=) c.3279T>C (p.Ile1093=) c.3264T>C (p.Ile1088=) c.3159T>C (p.Ile1053=) c.3156T>C (p.Ile1052=) c.3123T>C (p.Ile1041=) c.2973T>C (p.Ile991=) c.2457T>C (p.Ile819=) n.3587T>C c.3396T>C (p.Ile1132=) c.3228T>C (p.Ile1076=) c.2955T>C (p.Ile985=) c.2805T>C (p.Ile935=) | |
2 | g.208326225T>G | CA350115488 | PIKFYVE | c.3414T>G (p.Ile1138Met) c.3246T>G (p.Ile1082Met) c.3450T>G (p.Ile1150Met) c.3447T>G (p.Ile1149Met) c.3432T>G (p.Ile1144Met) c.3282T>G (p.Ile1094Met) c.3279T>G (p.Ile1093Met) c.3264T>G (p.Ile1088Met) c.3159T>G (p.Ile1053Met) c.3156T>G (p.Ile1052Met) c.3123T>G (p.Ile1041Met) c.2973T>G (p.Ile991Met) c.2457T>G (p.Ile819Met) n.3587T>G c.3396T>G (p.Ile1132Met) c.3228T>G (p.Ile1076Met) c.2955T>G (p.Ile985Met) c.2805T>G (p.Ile935Met) | |
2 | g.208326226G>A | CA350115489 | PIKFYVE | c.3415G>A (p.Ala1139Thr) c.3247G>A (p.Ala1083Thr) c.3451G>A (p.Ala1151Thr) c.3448G>A (p.Ala1150Thr) c.3433G>A (p.Ala1145Thr) c.3283G>A (p.Ala1095Thr) c.3280G>A (p.Ala1094Thr) c.3265G>A (p.Ala1089Thr) c.3160G>A (p.Ala1054Thr) c.3157G>A (p.Ala1053Thr) c.3124G>A (p.Ala1042Thr) c.2974G>A (p.Ala992Thr) c.2458G>A (p.Ala820Thr) n.3588G>A c.3397G>A (p.Ala1133Thr) c.3229G>A (p.Ala1077Thr) c.2956G>A (p.Ala986Thr) c.2806G>A (p.Ala936Thr) | |
2 | g.208326226G>C | CA350115490 | PIKFYVE | c.3415G>C (p.Ala1139Pro) c.3247G>C (p.Ala1083Pro) c.3451G>C (p.Ala1151Pro) c.3448G>C (p.Ala1150Pro) c.3433G>C (p.Ala1145Pro) c.3283G>C (p.Ala1095Pro) c.3280G>C (p.Ala1094Pro) c.3265G>C (p.Ala1089Pro) c.3160G>C (p.Ala1054Pro) c.3157G>C (p.Ala1053Pro) c.3124G>C (p.Ala1042Pro) c.2974G>C (p.Ala992Pro) c.2458G>C (p.Ala820Pro) n.3588G>C c.3397G>C (p.Ala1133Pro) c.3229G>C (p.Ala1077Pro) c.2956G>C (p.Ala986Pro) c.2806G>C (p.Ala936Pro) | |
2 | g.208326226G>T | CA350115491 | PIKFYVE | c.3415G>T (p.Ala1139Ser) c.3247G>T (p.Ala1083Ser) c.3451G>T (p.Ala1151Ser) c.3448G>T (p.Ala1150Ser) c.3433G>T (p.Ala1145Ser) c.3283G>T (p.Ala1095Ser) c.3280G>T (p.Ala1094Ser) c.3265G>T (p.Ala1089Ser) c.3160G>T (p.Ala1054Ser) c.3157G>T (p.Ala1053Ser) c.3124G>T (p.Ala1042Ser) c.2974G>T (p.Ala992Ser) c.2458G>T (p.Ala820Ser) n.3588G>T c.3397G>T (p.Ala1133Ser) c.3229G>T (p.Ala1077Ser) c.2956G>T (p.Ala986Ser) c.2806G>T (p.Ala936Ser) | |
2 | g.208326227C>A | CA350115492 | PIKFYVE | c.3416C>A (p.Ala1139Asp) c.3248C>A (p.Ala1083Asp) c.3452C>A (p.Ala1151Asp) c.3449C>A (p.Ala1150Asp) c.3434C>A (p.Ala1145Asp) c.3284C>A (p.Ala1095Asp) c.3281C>A (p.Ala1094Asp) c.3266C>A (p.Ala1089Asp) c.3161C>A (p.Ala1054Asp) c.3158C>A (p.Ala1053Asp) c.3125C>A (p.Ala1042Asp) c.2975C>A (p.Ala992Asp) c.2459C>A (p.Ala820Asp) n.3589C>A c.3398C>A (p.Ala1133Asp) c.3230C>A (p.Ala1077Asp) c.2957C>A (p.Ala986Asp) c.2807C>A (p.Ala936Asp) | gnomAD v4 |
2 | g.208326227C>G | CA350115493 | PIKFYVE | c.3416C>G (p.Ala1139Gly) c.3248C>G (p.Ala1083Gly) c.3452C>G (p.Ala1151Gly) c.3449C>G (p.Ala1150Gly) c.3434C>G (p.Ala1145Gly) c.3284C>G (p.Ala1095Gly) c.3281C>G (p.Ala1094Gly) c.3266C>G (p.Ala1089Gly) c.3161C>G (p.Ala1054Gly) c.3158C>G (p.Ala1053Gly) c.3125C>G (p.Ala1042Gly) c.2975C>G (p.Ala992Gly) c.2459C>G (p.Ala820Gly) n.3589C>G c.3398C>G (p.Ala1133Gly) c.3230C>G (p.Ala1077Gly) c.2957C>G (p.Ala986Gly) c.2807C>G (p.Ala936Gly) | |
2 | g.208326227C>T | CA350115494 | PIKFYVE | c.3416C>T (p.Ala1139Val) c.3248C>T (p.Ala1083Val) c.3452C>T (p.Ala1151Val) c.3449C>T (p.Ala1150Val) c.3434C>T (p.Ala1145Val) c.3284C>T (p.Ala1095Val) c.3281C>T (p.Ala1094Val) c.3266C>T (p.Ala1089Val) c.3161C>T (p.Ala1054Val) c.3158C>T (p.Ala1053Val) c.3125C>T (p.Ala1042Val) c.2975C>T (p.Ala992Val) c.2459C>T (p.Ala820Val) n.3589C>T c.3398C>T (p.Ala1133Val) c.3230C>T (p.Ala1077Val) c.2957C>T (p.Ala986Val) c.2807C>T (p.Ala936Val) | |
2 | g.208326228T>A | CA431117697 | PIKFYVE | c.3417T>A (p.Ala1139=) c.3249T>A (p.Ala1083=) c.3453T>A (p.Ala1151=) c.3450T>A (p.Ala1150=) c.3435T>A (p.Ala1145=) c.3285T>A (p.Ala1095=) c.3282T>A (p.Ala1094=) c.3267T>A (p.Ala1089=) c.3162T>A (p.Ala1054=) c.3159T>A (p.Ala1053=) c.3126T>A (p.Ala1042=) c.2976T>A (p.Ala992=) c.2460T>A (p.Ala820=) n.3590T>A c.3399T>A (p.Ala1133=) c.3231T>A (p.Ala1077=) c.2958T>A (p.Ala986=) c.2808T>A (p.Ala936=) | |
2 | g.208326228T>C | CA2080029 | PIKFYVE | c.3417T>C (p.Ala1139=) c.3249T>C (p.Ala1083=) c.3453T>C (p.Ala1151=) c.3450T>C (p.Ala1150=) c.3435T>C (p.Ala1145=) c.3285T>C (p.Ala1095=) c.3282T>C (p.Ala1094=) c.3267T>C (p.Ala1089=) c.3162T>C (p.Ala1054=) c.3159T>C (p.Ala1053=) c.3126T>C (p.Ala1042=) c.2976T>C (p.Ala992=) c.2460T>C (p.Ala820=) n.3590T>C c.3399T>C (p.Ala1133=) c.3231T>C (p.Ala1077=) c.2958T>C (p.Ala986=) c.2808T>C (p.Ala936=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208326228T>G | CA431117700 | PIKFYVE | c.3417T>G (p.Ala1139=) c.3249T>G (p.Ala1083=) c.3453T>G (p.Ala1151=) c.3450T>G (p.Ala1150=) c.3435T>G (p.Ala1145=) c.3285T>G (p.Ala1095=) c.3282T>G (p.Ala1094=) c.3267T>G (p.Ala1089=) c.3162T>G (p.Ala1054=) c.3159T>G (p.Ala1053=) c.3126T>G (p.Ala1042=) c.2976T>G (p.Ala992=) c.2460T>G (p.Ala820=) n.3590T>G c.3399T>G (p.Ala1133=) c.3231T>G (p.Ala1077=) c.2958T>G (p.Ala986=) c.2808T>G (p.Ala936=) | |
2 | g.208326228T= | CA1324023419 | PIKFYVE | c.3417T= (p.Ala1139=) c.3249T= (p.Ala1083=) c.3453T= (p.Ala1151=) c.3450T= (p.Ala1150=) c.3435T= (p.Ala1145=) c.3285T= (p.Ala1095=) c.3282T= (p.Ala1094=) c.3267T= (p.Ala1089=) c.3162T= (p.Ala1054=) c.3159T= (p.Ala1053=) c.3126T= (p.Ala1042=) c.2976T= (p.Ala992=) c.2460T= (p.Ala820=) n.3590T= c.3399T= (p.Ala1133=) c.3231T= (p.Ala1077=) c.2958T= (p.Ala986=) c.2808T= (p.Ala936=) | |
2 | g.208326229G>A | CA350115495 | PIKFYVE | c.3418G>A (p.Glu1140Lys) c.3250G>A (p.Glu1084Lys) c.3454G>A (p.Glu1152Lys) c.3451G>A (p.Glu1151Lys) c.3436G>A (p.Glu1146Lys) c.3286G>A (p.Glu1096Lys) c.3283G>A (p.Glu1095Lys) c.3268G>A (p.Glu1090Lys) c.3163G>A (p.Glu1055Lys) c.3160G>A (p.Glu1054Lys) c.3127G>A (p.Glu1043Lys) c.2977G>A (p.Glu993Lys) c.2461G>A (p.Glu821Lys) n.3591G>A c.3400G>A (p.Glu1134Lys) c.3232G>A (p.Glu1078Lys) c.2959G>A (p.Glu987Lys) c.2809G>A (p.Glu937Lys) | |
2 | g.208326229G>C | CA350115496 | PIKFYVE | c.3418G>C (p.Glu1140Gln) c.3250G>C (p.Glu1084Gln) c.3454G>C (p.Glu1152Gln) c.3451G>C (p.Glu1151Gln) c.3436G>C (p.Glu1146Gln) c.3286G>C (p.Glu1096Gln) c.3283G>C (p.Glu1095Gln) c.3268G>C (p.Glu1090Gln) c.3163G>C (p.Glu1055Gln) c.3160G>C (p.Glu1054Gln) c.3127G>C (p.Glu1043Gln) c.2977G>C (p.Glu993Gln) c.2461G>C (p.Glu821Gln) n.3591G>C c.3400G>C (p.Glu1134Gln) c.3232G>C (p.Glu1078Gln) c.2959G>C (p.Glu987Gln) c.2809G>C (p.Glu937Gln) | gnomAD v4 |
2 | g.208326229G>T | CA350115497 | PIKFYVE | c.3418G>T (p.Glu1140Ter) c.3250G>T (p.Glu1084Ter) c.3454G>T (p.Glu1152Ter) c.3451G>T (p.Glu1151Ter) c.3436G>T (p.Glu1146Ter) c.3286G>T (p.Glu1096Ter) c.3283G>T (p.Glu1095Ter) c.3268G>T (p.Glu1090Ter) c.3163G>T (p.Glu1055Ter) c.3160G>T (p.Glu1054Ter) c.3127G>T (p.Glu1043Ter) c.2977G>T (p.Glu993Ter) c.2461G>T (p.Glu821Ter) n.3591G>T c.3400G>T (p.Glu1134Ter) c.3232G>T (p.Glu1078Ter) c.2959G>T (p.Glu987Ter) c.2809G>T (p.Glu937Ter) | |
2 | g.208326230A>C | CA350115498 | PIKFYVE | c.3419A>C (p.Glu1140Ala) c.3251A>C (p.Glu1084Ala) c.3455A>C (p.Glu1152Ala) c.3452A>C (p.Glu1151Ala) c.3437A>C (p.Glu1146Ala) c.3287A>C (p.Glu1096Ala) c.3284A>C (p.Glu1095Ala) c.3269A>C (p.Glu1090Ala) c.3164A>C (p.Glu1055Ala) c.3161A>C (p.Glu1054Ala) c.3128A>C (p.Glu1043Ala) c.2978A>C (p.Glu993Ala) c.2462A>C (p.Glu821Ala) n.3592A>C c.3401A>C (p.Glu1134Ala) c.3233A>C (p.Glu1078Ala) c.2960A>C (p.Glu987Ala) c.2810A>C (p.Glu937Ala) | |
2 | g.208326230A>G | CA350115500 | PIKFYVE | c.3419A>G (p.Glu1140Gly) c.3251A>G (p.Glu1084Gly) c.3455A>G (p.Glu1152Gly) c.3452A>G (p.Glu1151Gly) c.3437A>G (p.Glu1146Gly) c.3287A>G (p.Glu1096Gly) c.3284A>G (p.Glu1095Gly) c.3269A>G (p.Glu1090Gly) c.3164A>G (p.Glu1055Gly) c.3161A>G (p.Glu1054Gly) c.3128A>G (p.Glu1043Gly) c.2978A>G (p.Glu993Gly) c.2462A>G (p.Glu821Gly) n.3592A>G c.3401A>G (p.Glu1134Gly) c.3233A>G (p.Glu1078Gly) c.2960A>G (p.Glu987Gly) c.2810A>G (p.Glu937Gly) | |
2 | g.208326230A>T | CA350115499 | PIKFYVE | c.3419A>T (p.Glu1140Val) c.3251A>T (p.Glu1084Val) c.3455A>T (p.Glu1152Val) c.3452A>T (p.Glu1151Val) c.3437A>T (p.Glu1146Val) c.3287A>T (p.Glu1096Val) c.3284A>T (p.Glu1095Val) c.3269A>T (p.Glu1090Val) c.3164A>T (p.Glu1055Val) c.3161A>T (p.Glu1054Val) c.3128A>T (p.Glu1043Val) c.2978A>T (p.Glu993Val) c.2462A>T (p.Glu821Val) n.3592A>T c.3401A>T (p.Glu1134Val) c.3233A>T (p.Glu1078Val) c.2960A>T (p.Glu987Val) c.2810A>T (p.Glu937Val) | COSMIC |
2 | g.208326231G>A | CA431117702 | PIKFYVE | c.3420G>A (p.Glu1140=) c.3252G>A (p.Glu1084=) c.3456G>A (p.Glu1152=) c.3453G>A (p.Glu1151=) c.3438G>A (p.Glu1146=) c.3288G>A (p.Glu1096=) c.3285G>A (p.Glu1095=) c.3270G>A (p.Glu1090=) c.3165G>A (p.Glu1055=) c.3162G>A (p.Glu1054=) c.3129G>A (p.Glu1043=) c.2979G>A (p.Glu993=) c.2463G>A (p.Glu821=) n.3593G>A c.3402G>A (p.Glu1134=) c.3234G>A (p.Glu1078=) c.2961G>A (p.Glu987=) c.2811G>A (p.Glu937=) | |
2 | g.208326231G>C | CA350115501 | PIKFYVE | c.3420G>C (p.Glu1140Asp) c.3252G>C (p.Glu1084Asp) c.3456G>C (p.Glu1152Asp) c.3453G>C (p.Glu1151Asp) c.3438G>C (p.Glu1146Asp) c.3288G>C (p.Glu1096Asp) c.3285G>C (p.Glu1095Asp) c.3270G>C (p.Glu1090Asp) c.3165G>C (p.Glu1055Asp) c.3162G>C (p.Glu1054Asp) c.3129G>C (p.Glu1043Asp) c.2979G>C (p.Glu993Asp) c.2463G>C (p.Glu821Asp) n.3593G>C c.3402G>C (p.Glu1134Asp) c.3234G>C (p.Glu1078Asp) c.2961G>C (p.Glu987Asp) c.2811G>C (p.Glu937Asp) | |
2 | g.208326231G= | CA1324023420 | PIKFYVE | c.3420G= (p.Glu1140=) c.3252G= (p.Glu1084=) c.3456G= (p.Glu1152=) c.3453G= (p.Glu1151=) c.3438G= (p.Glu1146=) c.3288G= (p.Glu1096=) c.3285G= (p.Glu1095=) c.3270G= (p.Glu1090=) c.3165G= (p.Glu1055=) c.3162G= (p.Glu1054=) c.3129G= (p.Glu1043=) c.2979G= (p.Glu993=) c.2463G= (p.Glu821=) n.3593G= c.3402G= (p.Glu1134=) c.3234G= (p.Glu1078=) c.2961G= (p.Glu987=) c.2811G= (p.Glu937=) | |
2 | g.208326231G>T | CA350115502 | PIKFYVE | c.3420G>T (p.Glu1140Asp) c.3252G>T (p.Glu1084Asp) c.3456G>T (p.Glu1152Asp) c.3453G>T (p.Glu1151Asp) c.3438G>T (p.Glu1146Asp) c.3288G>T (p.Glu1096Asp) c.3285G>T (p.Glu1095Asp) c.3270G>T (p.Glu1090Asp) c.3165G>T (p.Glu1055Asp) c.3162G>T (p.Glu1054Asp) c.3129G>T (p.Glu1043Asp) c.2979G>T (p.Glu993Asp) c.2463G>T (p.Glu821Asp) n.3593G>T c.3402G>T (p.Glu1134Asp) c.3234G>T (p.Glu1078Asp) c.2961G>T (p.Glu987Asp) c.2811G>T (p.Glu937Asp) | |
2 | g.208326232C>A | CA350115503 | PIKFYVE | c.3421C>A (p.His1141Asn) c.3253C>A (p.His1085Asn) c.3457C>A (p.His1153Asn) c.3454C>A (p.His1152Asn) c.3439C>A (p.His1147Asn) c.3289C>A (p.His1097Asn) c.3286C>A (p.His1096Asn) c.3271C>A (p.His1091Asn) c.3166C>A (p.His1056Asn) c.3163C>A (p.His1055Asn) c.3130C>A (p.His1044Asn) c.2980C>A (p.His994Asn) c.2464C>A (p.His822Asn) n.3594C>A c.3403C>A (p.His1135Asn) c.3235C>A (p.His1079Asn) c.2962C>A (p.His988Asn) c.2812C>A (p.His938Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208326232C= | CA1324023421 | PIKFYVE | c.3421C= (p.His1141=) c.3253C= (p.His1085=) c.3457C= (p.His1153=) c.3454C= (p.His1152=) c.3439C= (p.His1147=) c.3289C= (p.His1097=) c.3286C= (p.His1096=) c.3271C= (p.His1091=) c.3166C= (p.His1056=) c.3163C= (p.His1055=) c.3130C= (p.His1044=) c.2980C= (p.His994=) c.2464C= (p.His822=) n.3594C= c.3403C= (p.His1135=) c.3235C= (p.His1079=) c.2962C= (p.His988=) c.2812C= (p.His938=) | |
2 | g.208326232C>G | CA350115504 | PIKFYVE | c.3421C>G (p.His1141Asp) c.3253C>G (p.His1085Asp) c.3457C>G (p.His1153Asp) c.3454C>G (p.His1152Asp) c.3439C>G (p.His1147Asp) c.3289C>G (p.His1097Asp) c.3286C>G (p.His1096Asp) c.3271C>G (p.His1091Asp) c.3166C>G (p.His1056Asp) c.3163C>G (p.His1055Asp) c.3130C>G (p.His1044Asp) c.2980C>G (p.His994Asp) c.2464C>G (p.His822Asp) n.3594C>G c.3403C>G (p.His1135Asp) c.3235C>G (p.His1079Asp) c.2962C>G (p.His988Asp) c.2812C>G (p.His938Asp) | |
2 | g.208326232C>T | CA2080031 | PIKFYVE | c.3421C>T (p.His1141Tyr) c.3253C>T (p.His1085Tyr) c.3457C>T (p.His1153Tyr) c.3454C>T (p.His1152Tyr) c.3439C>T (p.His1147Tyr) c.3289C>T (p.His1097Tyr) c.3286C>T (p.His1096Tyr) c.3271C>T (p.His1091Tyr) c.3166C>T (p.His1056Tyr) c.3163C>T (p.His1055Tyr) c.3130C>T (p.His1044Tyr) c.2980C>T (p.His994Tyr) c.2464C>T (p.His822Tyr) n.3594C>T c.3403C>T (p.His1135Tyr) c.3235C>T (p.His1079Tyr) c.2962C>T (p.His988Tyr) c.2812C>T (p.His938Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208326232dup | CA2080030 | PIKFYVE | c.3421dup (p.His1141ProfsTer5) c.3253dup (p.His1085ProfsTer5) c.3457dup (p.His1153ProfsTer5) c.3454dup (p.His1152ProfsTer5) c.3439dup (p.His1147ProfsTer5) c.3289dup (p.His1097ProfsTer5) c.3286dup (p.His1096ProfsTer5) c.3271dup (p.His1091ProfsTer5) c.3166dup (p.His1056ProfsTer5) c.3163dup (p.His1055ProfsTer5) c.3130dup (p.His1044ProfsTer5) c.2980dup (p.His994ProfsTer5) c.2464dup (p.His822ProfsTer5) n.3594dup c.3403dup (p.His1135ProfsTer5) c.3235dup (p.His1079ProfsTer5) c.2962dup (p.His988ProfsTer5) c.2812dup (p.His938ProfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208326233A>C | CA350115505 | PIKFYVE | c.3422A>C (p.His1141Pro) c.3254A>C (p.His1085Pro) c.3458A>C (p.His1153Pro) c.3455A>C (p.His1152Pro) c.3440A>C (p.His1147Pro) c.3290A>C (p.His1097Pro) c.3287A>C (p.His1096Pro) c.3272A>C (p.His1091Pro) c.3167A>C (p.His1056Pro) c.3164A>C (p.His1055Pro) c.3131A>C (p.His1044Pro) c.2981A>C (p.His994Pro) c.2465A>C (p.His822Pro) n.3595A>C c.3404A>C (p.His1135Pro) c.3236A>C (p.His1079Pro) c.2963A>C (p.His988Pro) c.2813A>C (p.His938Pro) | |
2 | g.208326233A>G | CA350115506 | PIKFYVE | c.3422A>G (p.His1141Arg) c.3254A>G (p.His1085Arg) c.3458A>G (p.His1153Arg) c.3455A>G (p.His1152Arg) c.3440A>G (p.His1147Arg) c.3290A>G (p.His1097Arg) c.3287A>G (p.His1096Arg) c.3272A>G (p.His1091Arg) c.3167A>G (p.His1056Arg) c.3164A>G (p.His1055Arg) c.3131A>G (p.His1044Arg) c.2981A>G (p.His994Arg) c.2465A>G (p.His822Arg) n.3595A>G c.3404A>G (p.His1135Arg) c.3236A>G (p.His1079Arg) c.2963A>G (p.His988Arg) c.2813A>G (p.His938Arg) | gnomAD v4 |
2 | g.208326233A>T | CA350115507 | PIKFYVE | c.3422A>T (p.His1141Leu) c.3254A>T (p.His1085Leu) c.3458A>T (p.His1153Leu) c.3455A>T (p.His1152Leu) c.3440A>T (p.His1147Leu) c.3290A>T (p.His1097Leu) c.3287A>T (p.His1096Leu) c.3272A>T (p.His1091Leu) c.3167A>T (p.His1056Leu) c.3164A>T (p.His1055Leu) c.3131A>T (p.His1044Leu) c.2981A>T (p.His994Leu) c.2465A>T (p.His822Leu) n.3595A>T c.3404A>T (p.His1135Leu) c.3236A>T (p.His1079Leu) c.2963A>T (p.His988Leu) c.2813A>T (p.His938Leu) | |
2 | g.208326233_208326236dup | CA2577226689 | PIKFYVE | c.3422_3425dup (p.Gly1143SerfsTer4) c.3254_3257dup (p.Gly1087SerfsTer4) c.3458_3461dup (p.Gly1155SerfsTer4) c.3455_3458dup (p.Gly1154SerfsTer4) c.3440_3443dup (p.Gly1149SerfsTer4) c.3290_3293dup (p.Gly1099SerfsTer4) c.3287_3290dup (p.Gly1098SerfsTer4) c.3272_3275dup (p.Gly1093SerfsTer4) c.3167_3170dup (p.Gly1058SerfsTer4) c.3164_3167dup (p.Gly1057SerfsTer4) c.3131_3134dup (p.Gly1046SerfsTer4) c.2981_2984dup (p.Gly996SerfsTer4) c.2465_2468dup (p.Gly824SerfsTer4) n.3595_3598dup c.3404_3407dup (p.Gly1137SerfsTer4) c.3236_3239dup (p.Gly1081SerfsTer4) c.2963_2966dup (p.Gly990SerfsTer4) c.2813_2816dup (p.Gly940SerfsTer4) | |
2 | g.208326234T>A | CA350115508 | PIKFYVE | c.3423T>A (p.His1141Gln) c.3255T>A (p.His1085Gln) c.3459T>A (p.His1153Gln) c.3456T>A (p.His1152Gln) c.3441T>A (p.His1147Gln) c.3291T>A (p.His1097Gln) c.3288T>A (p.His1096Gln) c.3273T>A (p.His1091Gln) c.3168T>A (p.His1056Gln) c.3165T>A (p.His1055Gln) c.3132T>A (p.His1044Gln) c.2982T>A (p.His994Gln) c.2466T>A (p.His822Gln) n.3596T>A c.3405T>A (p.His1135Gln) c.3237T>A (p.His1079Gln) c.2964T>A (p.His988Gln) c.2814T>A (p.His938Gln) | |
2 | g.208326234T>C | CA431117709 | PIKFYVE | c.3423T>C (p.His1141=) c.3255T>C (p.His1085=) c.3459T>C (p.His1153=) c.3456T>C (p.His1152=) c.3441T>C (p.His1147=) c.3291T>C (p.His1097=) c.3288T>C (p.His1096=) c.3273T>C (p.His1091=) c.3168T>C (p.His1056=) c.3165T>C (p.His1055=) c.3132T>C (p.His1044=) c.2982T>C (p.His994=) c.2466T>C (p.His822=) n.3596T>C c.3405T>C (p.His1135=) c.3237T>C (p.His1079=) c.2964T>C (p.His988=) c.2814T>C (p.His938=) | dbSNP gnomAD v4 |
2 | g.208326234T>G | CA350115509 | PIKFYVE | c.3423T>G (p.His1141Gln) c.3255T>G (p.His1085Gln) c.3459T>G (p.His1153Gln) c.3456T>G (p.His1152Gln) c.3441T>G (p.His1147Gln) c.3291T>G (p.His1097Gln) c.3288T>G (p.His1096Gln) c.3273T>G (p.His1091Gln) c.3168T>G (p.His1056Gln) c.3165T>G (p.His1055Gln) c.3132T>G (p.His1044Gln) c.2982T>G (p.His994Gln) c.2466T>G (p.His822Gln) n.3596T>G c.3405T>G (p.His1135Gln) c.3237T>G (p.His1079Gln) c.2964T>G (p.His988Gln) c.2814T>G (p.His938Gln) | |
2 | g.208326234T= | CA1324023422 | PIKFYVE | c.3423T= (p.His1141=) c.3255T= (p.His1085=) c.3459T= (p.His1153=) c.3456T= (p.His1152=) c.3441T= (p.His1147=) c.3291T= (p.His1097=) c.3288T= (p.His1096=) c.3273T= (p.His1091=) c.3168T= (p.His1056=) c.3165T= (p.His1055=) c.3132T= (p.His1044=) c.2982T= (p.His994=) c.2466T= (p.His822=) n.3596T= c.3405T= (p.His1135=) c.3237T= (p.His1079=) c.2964T= (p.His988=) c.2814T= (p.His938=) | |
2 | g.208326235C>A | CA350115510 | PIKFYVE | c.3424C>A (p.Leu1142Met) c.3256C>A (p.Leu1086Met) c.3460C>A (p.Leu1154Met) c.3457C>A (p.Leu1153Met) c.3442C>A (p.Leu1148Met) c.3292C>A (p.Leu1098Met) c.3289C>A (p.Leu1097Met) c.3274C>A (p.Leu1092Met) c.3169C>A (p.Leu1057Met) c.3166C>A (p.Leu1056Met) c.3133C>A (p.Leu1045Met) c.2983C>A (p.Leu995Met) c.2467C>A (p.Leu823Met) n.3597C>A c.3406C>A (p.Leu1136Met) c.3238C>A (p.Leu1080Met) c.2965C>A (p.Leu989Met) c.2815C>A (p.Leu939Met) | |
2 | g.208326235C>G | CA350115511 | PIKFYVE | c.3424C>G (p.Leu1142Val) c.3256C>G (p.Leu1086Val) c.3460C>G (p.Leu1154Val) c.3457C>G (p.Leu1153Val) c.3442C>G (p.Leu1148Val) c.3292C>G (p.Leu1098Val) c.3289C>G (p.Leu1097Val) c.3274C>G (p.Leu1092Val) c.3169C>G (p.Leu1057Val) c.3166C>G (p.Leu1056Val) c.3133C>G (p.Leu1045Val) c.2983C>G (p.Leu995Val) c.2467C>G (p.Leu823Val) n.3597C>G c.3406C>G (p.Leu1136Val) c.3238C>G (p.Leu1080Val) c.2965C>G (p.Leu989Val) c.2815C>G (p.Leu939Val) | |
2 | g.208326235C>T | CA431117710 | PIKFYVE | c.3424C>T (p.Leu1142=) c.3256C>T (p.Leu1086=) c.3460C>T (p.Leu1154=) c.3457C>T (p.Leu1153=) c.3442C>T (p.Leu1148=) c.3292C>T (p.Leu1098=) c.3289C>T (p.Leu1097=) c.3274C>T (p.Leu1092=) c.3169C>T (p.Leu1057=) c.3166C>T (p.Leu1056=) c.3133C>T (p.Leu1045=) c.2983C>T (p.Leu995=) c.2467C>T (p.Leu823=) n.3597C>T c.3406C>T (p.Leu1136=) c.3238C>T (p.Leu1080=) c.2965C>T (p.Leu989=) c.2815C>T (p.Leu939=) | |
2 | g.208326236T>A | CA350115514 | PIKFYVE | c.3425T>A (p.Leu1142Gln) c.3257T>A (p.Leu1086Gln) c.3461T>A (p.Leu1154Gln) c.3458T>A (p.Leu1153Gln) c.3443T>A (p.Leu1148Gln) c.3293T>A (p.Leu1098Gln) c.3290T>A (p.Leu1097Gln) c.3275T>A (p.Leu1092Gln) c.3170T>A (p.Leu1057Gln) c.3167T>A (p.Leu1056Gln) c.3134T>A (p.Leu1045Gln) c.2984T>A (p.Leu995Gln) c.2468T>A (p.Leu823Gln) n.3598T>A c.3407T>A (p.Leu1136Gln) c.3239T>A (p.Leu1080Gln) c.2966T>A (p.Leu989Gln) c.2816T>A (p.Leu939Gln) | COSMIC |
2 | g.208326236T>C | CA350115512 | PIKFYVE | c.3425T>C (p.Leu1142Pro) c.3257T>C (p.Leu1086Pro) c.3461T>C (p.Leu1154Pro) c.3458T>C (p.Leu1153Pro) c.3443T>C (p.Leu1148Pro) c.3293T>C (p.Leu1098Pro) c.3290T>C (p.Leu1097Pro) c.3275T>C (p.Leu1092Pro) c.3170T>C (p.Leu1057Pro) c.3167T>C (p.Leu1056Pro) c.3134T>C (p.Leu1045Pro) c.2984T>C (p.Leu995Pro) c.2468T>C (p.Leu823Pro) n.3598T>C c.3407T>C (p.Leu1136Pro) c.3239T>C (p.Leu1080Pro) c.2966T>C (p.Leu989Pro) c.2816T>C (p.Leu939Pro) | |
2 | g.208326236T>G | CA350115513 | PIKFYVE | c.3425T>G (p.Leu1142Arg) c.3257T>G (p.Leu1086Arg) c.3461T>G (p.Leu1154Arg) c.3458T>G (p.Leu1153Arg) c.3443T>G (p.Leu1148Arg) c.3293T>G (p.Leu1098Arg) c.3290T>G (p.Leu1097Arg) c.3275T>G (p.Leu1092Arg) c.3170T>G (p.Leu1057Arg) c.3167T>G (p.Leu1056Arg) c.3134T>G (p.Leu1045Arg) c.2984T>G (p.Leu995Arg) c.2468T>G (p.Leu823Arg) n.3598T>G c.3407T>G (p.Leu1136Arg) c.3239T>G (p.Leu1080Arg) c.2966T>G (p.Leu989Arg) c.2816T>G (p.Leu939Arg) | gnomAD v4 |
2 | g.208326237G>A | CA64596689 | PIKFYVE | c.3426G>A (p.Leu1142=) c.3258G>A (p.Leu1086=) c.3462G>A (p.Leu1154=) c.3459G>A (p.Leu1153=) c.3444G>A (p.Leu1148=) c.3294G>A (p.Leu1098=) c.3291G>A (p.Leu1097=) c.3276G>A (p.Leu1092=) c.3171G>A (p.Leu1057=) c.3168G>A (p.Leu1056=) c.3135G>A (p.Leu1045=) c.2985G>A (p.Leu995=) c.2469G>A (p.Leu823=) n.3599G>A c.3408G>A (p.Leu1136=) c.3240G>A (p.Leu1080=) c.2967G>A (p.Leu989=) c.2817G>A (p.Leu939=) | dbSNP |
2 | g.208326237G>C | CA431117719 | PIKFYVE | c.3426G>C (p.Leu1142=) c.3258G>C (p.Leu1086=) c.3462G>C (p.Leu1154=) c.3459G>C (p.Leu1153=) c.3444G>C (p.Leu1148=) c.3294G>C (p.Leu1098=) c.3291G>C (p.Leu1097=) c.3276G>C (p.Leu1092=) c.3171G>C (p.Leu1057=) c.3168G>C (p.Leu1056=) c.3135G>C (p.Leu1045=) c.2985G>C (p.Leu995=) c.2469G>C (p.Leu823=) n.3599G>C c.3408G>C (p.Leu1136=) c.3240G>C (p.Leu1080=) c.2967G>C (p.Leu989=) c.2817G>C (p.Leu939=) | |
2 | g.208326237G= | CA1324023423 | PIKFYVE | c.3426G= (p.Leu1142=) c.3258G= (p.Leu1086=) c.3462G= (p.Leu1154=) c.3459G= (p.Leu1153=) c.3444G= (p.Leu1148=) c.3294G= (p.Leu1098=) c.3291G= (p.Leu1097=) c.3276G= (p.Leu1092=) c.3171G= (p.Leu1057=) c.3168G= (p.Leu1056=) c.3135G= (p.Leu1045=) c.2985G= (p.Leu995=) c.2469G= (p.Leu823=) n.3599G= c.3408G= (p.Leu1136=) c.3240G= (p.Leu1080=) c.2967G= (p.Leu989=) c.2817G= (p.Leu939=) | |
2 | g.208326237G>T | CA431117720 | PIKFYVE | c.3426G>T (p.Leu1142=) c.3258G>T (p.Leu1086=) c.3462G>T (p.Leu1154=) c.3459G>T (p.Leu1153=) c.3444G>T (p.Leu1148=) c.3294G>T (p.Leu1098=) c.3291G>T (p.Leu1097=) c.3276G>T (p.Leu1092=) c.3171G>T (p.Leu1057=) c.3168G>T (p.Leu1056=) c.3135G>T (p.Leu1045=) c.2985G>T (p.Leu995=) c.2469G>T (p.Leu823=) n.3599G>T c.3408G>T (p.Leu1136=) c.3240G>T (p.Leu1080=) c.2967G>T (p.Leu989=) c.2817G>T (p.Leu939=) | |
2 | g.208326238G>A | CA350115515 | PIKFYVE | c.3427G>A (p.Gly1143Ser) c.3259G>A (p.Gly1087Ser) c.3463G>A (p.Gly1155Ser) c.3460G>A (p.Gly1154Ser) c.3445G>A (p.Gly1149Ser) c.3295G>A (p.Gly1099Ser) c.3292G>A (p.Gly1098Ser) c.3277G>A (p.Gly1093Ser) c.3172G>A (p.Gly1058Ser) c.3169G>A (p.Gly1057Ser) c.3136G>A (p.Gly1046Ser) c.2986G>A (p.Gly996Ser) c.2470G>A (p.Gly824Ser) n.3600G>A c.3409G>A (p.Gly1137Ser) c.3241G>A (p.Gly1081Ser) c.2968G>A (p.Gly990Ser) c.2818G>A (p.Gly940Ser) | gnomAD v4 |
2 | g.208326238G>C | CA350115516 | PIKFYVE | c.3427G>C (p.Gly1143Arg) c.3259G>C (p.Gly1087Arg) c.3463G>C (p.Gly1155Arg) c.3460G>C (p.Gly1154Arg) c.3445G>C (p.Gly1149Arg) c.3295G>C (p.Gly1099Arg) c.3292G>C (p.Gly1098Arg) c.3277G>C (p.Gly1093Arg) c.3172G>C (p.Gly1058Arg) c.3169G>C (p.Gly1057Arg) c.3136G>C (p.Gly1046Arg) c.2986G>C (p.Gly996Arg) c.2470G>C (p.Gly824Arg) n.3600G>C c.3409G>C (p.Gly1137Arg) c.3241G>C (p.Gly1081Arg) c.2968G>C (p.Gly990Arg) c.2818G>C (p.Gly940Arg) | |
2 | g.208326238G= | CA1324023424 | PIKFYVE | c.3427G= (p.Gly1143=) c.3259G= (p.Gly1087=) c.3463G= (p.Gly1155=) c.3460G= (p.Gly1154=) c.3445G= (p.Gly1149=) c.3295G= (p.Gly1099=) c.3292G= (p.Gly1098=) c.3277G= (p.Gly1093=) c.3172G= (p.Gly1058=) c.3169G= (p.Gly1057=) c.3136G= (p.Gly1046=) c.2986G= (p.Gly996=) c.2470G= (p.Gly824=) n.3600G= c.3409G= (p.Gly1137=) c.3241G= (p.Gly1081=) c.2968G= (p.Gly990=) c.2818G= (p.Gly940=) | |
2 | g.208326238G>T | CA350115517 | PIKFYVE | c.3427G>T (p.Gly1143Cys) c.3259G>T (p.Gly1087Cys) c.3463G>T (p.Gly1155Cys) c.3460G>T (p.Gly1154Cys) c.3445G>T (p.Gly1149Cys) c.3295G>T (p.Gly1099Cys) c.3292G>T (p.Gly1098Cys) c.3277G>T (p.Gly1093Cys) c.3172G>T (p.Gly1058Cys) c.3169G>T (p.Gly1057Cys) c.3136G>T (p.Gly1046Cys) c.2986G>T (p.Gly996Cys) c.2470G>T (p.Gly824Cys) n.3600G>T c.3409G>T (p.Gly1137Cys) c.3241G>T (p.Gly1081Cys) c.2968G>T (p.Gly990Cys) c.2818G>T (p.Gly940Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208326239G>A | CA350115518 | PIKFYVE | c.3428G>A (p.Gly1143Asp) c.3260G>A (p.Gly1087Asp) c.3464G>A (p.Gly1155Asp) c.3461G>A (p.Gly1154Asp) c.3446G>A (p.Gly1149Asp) c.3296G>A (p.Gly1099Asp) c.3293G>A (p.Gly1098Asp) c.3278G>A (p.Gly1093Asp) c.3173G>A (p.Gly1058Asp) c.3170G>A (p.Gly1057Asp) c.3137G>A (p.Gly1046Asp) c.2987G>A (p.Gly996Asp) c.2471G>A (p.Gly824Asp) n.3601G>A c.3410G>A (p.Gly1137Asp) c.3242G>A (p.Gly1081Asp) c.2969G>A (p.Gly990Asp) c.2819G>A (p.Gly940Asp) | |
2 | g.208326239G>C | CA350115519 | PIKFYVE | c.3428G>C (p.Gly1143Ala) c.3260G>C (p.Gly1087Ala) c.3464G>C (p.Gly1155Ala) c.3461G>C (p.Gly1154Ala) c.3446G>C (p.Gly1149Ala) c.3296G>C (p.Gly1099Ala) c.3293G>C (p.Gly1098Ala) c.3278G>C (p.Gly1093Ala) c.3173G>C (p.Gly1058Ala) c.3170G>C (p.Gly1057Ala) c.3137G>C (p.Gly1046Ala) c.2987G>C (p.Gly996Ala) c.2471G>C (p.Gly824Ala) n.3601G>C c.3410G>C (p.Gly1137Ala) c.3242G>C (p.Gly1081Ala) c.2969G>C (p.Gly990Ala) c.2819G>C (p.Gly940Ala) | |
2 | g.208326239G= | CA1324023425 | PIKFYVE | c.3428G= (p.Gly1143=) c.3260G= (p.Gly1087=) c.3464G= (p.Gly1155=) c.3461G= (p.Gly1154=) c.3446G= (p.Gly1149=) c.3296G= (p.Gly1099=) c.3293G= (p.Gly1098=) c.3278G= (p.Gly1093=) c.3173G= (p.Gly1058=) c.3170G= (p.Gly1057=) c.3137G= (p.Gly1046=) c.2987G= (p.Gly996=) c.2471G= (p.Gly824=) n.3601G= c.3410G= (p.Gly1137=) c.3242G= (p.Gly1081=) c.2969G= (p.Gly990=) c.2819G= (p.Gly940=) | |
2 | g.208326239G>T | CA350115520 | PIKFYVE | c.3428G>T (p.Gly1143Val) c.3260G>T (p.Gly1087Val) c.3464G>T (p.Gly1155Val) c.3461G>T (p.Gly1154Val) c.3446G>T (p.Gly1149Val) c.3296G>T (p.Gly1099Val) c.3293G>T (p.Gly1098Val) c.3278G>T (p.Gly1093Val) c.3173G>T (p.Gly1058Val) c.3170G>T (p.Gly1057Val) c.3137G>T (p.Gly1046Val) c.2987G>T (p.Gly996Val) c.2471G>T (p.Gly824Val) n.3601G>T c.3410G>T (p.Gly1137Val) c.3242G>T (p.Gly1081Val) c.2969G>T (p.Gly990Val) c.2819G>T (p.Gly940Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208326240C>A | CA431117726 | PIKFYVE | c.3429C>A (p.Gly1143=) c.3261C>A (p.Gly1087=) c.3465C>A (p.Gly1155=) c.3462C>A (p.Gly1154=) c.3447C>A (p.Gly1149=) c.3297C>A (p.Gly1099=) c.3294C>A (p.Gly1098=) c.3279C>A (p.Gly1093=) c.3174C>A (p.Gly1058=) c.3171C>A (p.Gly1057=) c.3138C>A (p.Gly1046=) c.2988C>A (p.Gly996=) c.2472C>A (p.Gly824=) n.3602C>A c.3411C>A (p.Gly1137=) c.3243C>A (p.Gly1081=) c.2970C>A (p.Gly990=) c.2820C>A (p.Gly940=) | gnomAD v4 |
2 | g.208326240C= | CA1324023426 | PIKFYVE | c.3429C= (p.Gly1143=) c.3261C= (p.Gly1087=) c.3465C= (p.Gly1155=) c.3462C= (p.Gly1154=) c.3447C= (p.Gly1149=) c.3297C= (p.Gly1099=) c.3294C= (p.Gly1098=) c.3279C= (p.Gly1093=) c.3174C= (p.Gly1058=) c.3171C= (p.Gly1057=) c.3138C= (p.Gly1046=) c.2988C= (p.Gly996=) c.2472C= (p.Gly824=) n.3602C= c.3411C= (p.Gly1137=) c.3243C= (p.Gly1081=) c.2970C= (p.Gly990=) c.2820C= (p.Gly940=) | |
2 | g.208326240C>G | CA431117731 | PIKFYVE | c.3429C>G (p.Gly1143=) c.3261C>G (p.Gly1087=) c.3465C>G (p.Gly1155=) c.3462C>G (p.Gly1154=) c.3447C>G (p.Gly1149=) c.3297C>G (p.Gly1099=) c.3294C>G (p.Gly1098=) c.3279C>G (p.Gly1093=) c.3174C>G (p.Gly1058=) c.3171C>G (p.Gly1057=) c.3138C>G (p.Gly1046=) c.2988C>G (p.Gly996=) c.2472C>G (p.Gly824=) n.3602C>G c.3411C>G (p.Gly1137=) c.3243C>G (p.Gly1081=) c.2970C>G (p.Gly990=) c.2820C>G (p.Gly940=) | |
2 | g.208326240C>T | CA2080032 | PIKFYVE | c.3429C>T (p.Gly1143=) c.3261C>T (p.Gly1087=) c.3465C>T (p.Gly1155=) c.3462C>T (p.Gly1154=) c.3447C>T (p.Gly1149=) c.3297C>T (p.Gly1099=) c.3294C>T (p.Gly1098=) c.3279C>T (p.Gly1093=) c.3174C>T (p.Gly1058=) c.3171C>T (p.Gly1057=) c.3138C>T (p.Gly1046=) c.2988C>T (p.Gly996=) c.2472C>T (p.Gly824=) n.3602C>T c.3411C>T (p.Gly1137=) c.3243C>T (p.Gly1081=) c.2970C>T (p.Gly990=) c.2820C>T (p.Gly940=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208326241G>A | CA350115521 | PIKFYVE | c.3430G>A (p.Asp1144Asn) c.3262G>A (p.Asp1088Asn) c.3466G>A (p.Asp1156Asn) c.3463G>A (p.Asp1155Asn) c.3448G>A (p.Asp1150Asn) c.3298G>A (p.Asp1100Asn) c.3295G>A (p.Asp1099Asn) c.3280G>A (p.Asp1094Asn) c.3175G>A (p.Asp1059Asn) c.3172G>A (p.Asp1058Asn) c.3139G>A (p.Asp1047Asn) c.2989G>A (p.Asp997Asn) c.2473G>A (p.Asp825Asn) n.3603G>A c.3412G>A (p.Asp1138Asn) c.3244G>A (p.Asp1082Asn) c.2971G>A (p.Asp991Asn) c.2821G>A (p.Asp941Asn) | gnomAD v4 |
2 | g.208326241G>C | CA350115522 | PIKFYVE | c.3430G>C (p.Asp1144His) c.3262G>C (p.Asp1088His) c.3466G>C (p.Asp1156His) c.3463G>C (p.Asp1155His) c.3448G>C (p.Asp1150His) c.3298G>C (p.Asp1100His) c.3295G>C (p.Asp1099His) c.3280G>C (p.Asp1094His) c.3175G>C (p.Asp1059His) c.3172G>C (p.Asp1058His) c.3139G>C (p.Asp1047His) c.2989G>C (p.Asp997His) c.2473G>C (p.Asp825His) n.3603G>C c.3412G>C (p.Asp1138His) c.3244G>C (p.Asp1082His) c.2971G>C (p.Asp991His) c.2821G>C (p.Asp941His) | |
2 | g.208326241G>T | CA350115523 | PIKFYVE | c.3430G>T (p.Asp1144Tyr) c.3262G>T (p.Asp1088Tyr) c.3466G>T (p.Asp1156Tyr) c.3463G>T (p.Asp1155Tyr) c.3448G>T (p.Asp1150Tyr) c.3298G>T (p.Asp1100Tyr) c.3295G>T (p.Asp1099Tyr) c.3280G>T (p.Asp1094Tyr) c.3175G>T (p.Asp1059Tyr) c.3172G>T (p.Asp1058Tyr) c.3139G>T (p.Asp1047Tyr) c.2989G>T (p.Asp997Tyr) c.2473G>T (p.Asp825Tyr) n.3603G>T c.3412G>T (p.Asp1138Tyr) c.3244G>T (p.Asp1082Tyr) c.2971G>T (p.Asp991Tyr) c.2821G>T (p.Asp941Tyr) | gnomAD v4 |
2 | g.208326242A= | CA1324023427 | PIKFYVE | c.3431A= (p.Asp1144=) c.3263A= (p.Asp1088=) c.3467A= (p.Asp1156=) c.3464A= (p.Asp1155=) c.3449A= (p.Asp1150=) c.3299A= (p.Asp1100=) c.3296A= (p.Asp1099=) c.3281A= (p.Asp1094=) c.3176A= (p.Asp1059=) c.3173A= (p.Asp1058=) c.3140A= (p.Asp1047=) c.2990A= (p.Asp997=) c.2474A= (p.Asp825=) n.3604A= c.3413A= (p.Asp1138=) c.3245A= (p.Asp1082=) c.2972A= (p.Asp991=) c.2822A= (p.Asp941=) | |
2 | g.208326242A>C | CA350115525 | PIKFYVE | c.3431A>C (p.Asp1144Ala) c.3263A>C (p.Asp1088Ala) c.3467A>C (p.Asp1156Ala) c.3464A>C (p.Asp1155Ala) c.3449A>C (p.Asp1150Ala) c.3299A>C (p.Asp1100Ala) c.3296A>C (p.Asp1099Ala) c.3281A>C (p.Asp1094Ala) c.3176A>C (p.Asp1059Ala) c.3173A>C (p.Asp1058Ala) c.3140A>C (p.Asp1047Ala) c.2990A>C (p.Asp997Ala) c.2474A>C (p.Asp825Ala) n.3604A>C c.3413A>C (p.Asp1138Ala) c.3245A>C (p.Asp1082Ala) c.2972A>C (p.Asp991Ala) c.2822A>C (p.Asp941Ala) | |
2 | g.208326242A>G | CA2080033 | PIKFYVE | c.3431A>G (p.Asp1144Gly) c.3263A>G (p.Asp1088Gly) c.3467A>G (p.Asp1156Gly) c.3464A>G (p.Asp1155Gly) c.3449A>G (p.Asp1150Gly) c.3299A>G (p.Asp1100Gly) c.3296A>G (p.Asp1099Gly) c.3281A>G (p.Asp1094Gly) c.3176A>G (p.Asp1059Gly) c.3173A>G (p.Asp1058Gly) c.3140A>G (p.Asp1047Gly) c.2990A>G (p.Asp997Gly) c.2474A>G (p.Asp825Gly) n.3604A>G c.3413A>G (p.Asp1138Gly) c.3245A>G (p.Asp1082Gly) c.2972A>G (p.Asp991Gly) c.2822A>G (p.Asp941Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208326242A>T | CA350115524 | PIKFYVE | c.3431A>T (p.Asp1144Val) c.3263A>T (p.Asp1088Val) c.3467A>T (p.Asp1156Val) c.3464A>T (p.Asp1155Val) c.3449A>T (p.Asp1150Val) c.3299A>T (p.Asp1100Val) c.3296A>T (p.Asp1099Val) c.3281A>T (p.Asp1094Val) c.3176A>T (p.Asp1059Val) c.3173A>T (p.Asp1058Val) c.3140A>T (p.Asp1047Val) c.2990A>T (p.Asp997Val) c.2474A>T (p.Asp825Val) n.3604A>T c.3413A>T (p.Asp1138Val) c.3245A>T (p.Asp1082Val) c.2972A>T (p.Asp991Val) c.2822A>T (p.Asp941Val) | |
2 | g.208326243T>A | CA350115526 | PIKFYVE | c.3432T>A (p.Asp1144Glu) c.3264T>A (p.Asp1088Glu) c.3468T>A (p.Asp1156Glu) c.3465T>A (p.Asp1155Glu) c.3450T>A (p.Asp1150Glu) c.3300T>A (p.Asp1100Glu) c.3297T>A (p.Asp1099Glu) c.3282T>A (p.Asp1094Glu) c.3177T>A (p.Asp1059Glu) c.3174T>A (p.Asp1058Glu) c.3141T>A (p.Asp1047Glu) c.2991T>A (p.Asp997Glu) c.2475T>A (p.Asp825Glu) n.3605T>A c.3414T>A (p.Asp1138Glu) c.3246T>A (p.Asp1082Glu) c.2973T>A (p.Asp991Glu) c.2823T>A (p.Asp941Glu) | |
2 | g.208326243T>C | CA431117737 | PIKFYVE | c.3432T>C (p.Asp1144=) c.3264T>C (p.Asp1088=) c.3468T>C (p.Asp1156=) c.3465T>C (p.Asp1155=) c.3450T>C (p.Asp1150=) c.3300T>C (p.Asp1100=) c.3297T>C (p.Asp1099=) c.3282T>C (p.Asp1094=) c.3177T>C (p.Asp1059=) c.3174T>C (p.Asp1058=) c.3141T>C (p.Asp1047=) c.2991T>C (p.Asp997=) c.2475T>C (p.Asp825=) n.3605T>C c.3414T>C (p.Asp1138=) c.3246T>C (p.Asp1082=) c.2973T>C (p.Asp991=) c.2823T>C (p.Asp941=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208326243T>G | CA350115527 | PIKFYVE | c.3432T>G (p.Asp1144Glu) c.3264T>G (p.Asp1088Glu) c.3468T>G (p.Asp1156Glu) c.3465T>G (p.Asp1155Glu) c.3450T>G (p.Asp1150Glu) c.3300T>G (p.Asp1100Glu) c.3297T>G (p.Asp1099Glu) c.3282T>G (p.Asp1094Glu) c.3177T>G (p.Asp1059Glu) c.3174T>G (p.Asp1058Glu) c.3141T>G (p.Asp1047Glu) c.2991T>G (p.Asp997Glu) c.2475T>G (p.Asp825Glu) n.3605T>G c.3414T>G (p.Asp1138Glu) c.3246T>G (p.Asp1082Glu) c.2973T>G (p.Asp991Glu) c.2823T>G (p.Asp941Glu) | |
2 | g.208326243T= | CA1324023428 | PIKFYVE | c.3432T= (p.Asp1144=) c.3264T= (p.Asp1088=) c.3468T= (p.Asp1156=) c.3465T= (p.Asp1155=) c.3450T= (p.Asp1150=) c.3300T= (p.Asp1100=) c.3297T= (p.Asp1099=) c.3282T= (p.Asp1094=) c.3177T= (p.Asp1059=) c.3174T= (p.Asp1058=) c.3141T= (p.Asp1047=) c.2991T= (p.Asp997=) c.2475T= (p.Asp825=) n.3605T= c.3414T= (p.Asp1138=) c.3246T= (p.Asp1082=) c.2973T= (p.Asp991=) c.2823T= (p.Asp941=) | |
2 | g.208326244A>C | CA350115528 | PIKFYVE | c.3433A>C (p.Ser1145Arg) c.3265A>C (p.Ser1089Arg) c.3469A>C (p.Ser1157Arg) c.3466A>C (p.Ser1156Arg) c.3451A>C (p.Ser1151Arg) c.3301A>C (p.Ser1101Arg) c.3298A>C (p.Ser1100Arg) c.3283A>C (p.Ser1095Arg) c.3178A>C (p.Ser1060Arg) c.3175A>C (p.Ser1059Arg) c.3142A>C (p.Ser1048Arg) c.2992A>C (p.Ser998Arg) c.2476A>C (p.Ser826Arg) n.3606A>C c.3415A>C (p.Ser1139Arg) c.3247A>C (p.Ser1083Arg) c.2974A>C (p.Ser992Arg) c.2824A>C (p.Ser942Arg) | |
2 | g.208326244A>G | CA350115529 | PIKFYVE | c.3433A>G (p.Ser1145Gly) c.3265A>G (p.Ser1089Gly) c.3469A>G (p.Ser1157Gly) c.3466A>G (p.Ser1156Gly) c.3451A>G (p.Ser1151Gly) c.3301A>G (p.Ser1101Gly) c.3298A>G (p.Ser1100Gly) c.3283A>G (p.Ser1095Gly) c.3178A>G (p.Ser1060Gly) c.3175A>G (p.Ser1059Gly) c.3142A>G (p.Ser1048Gly) c.2992A>G (p.Ser998Gly) c.2476A>G (p.Ser826Gly) n.3606A>G c.3415A>G (p.Ser1139Gly) c.3247A>G (p.Ser1083Gly) c.2974A>G (p.Ser992Gly) c.2824A>G (p.Ser942Gly) | |
2 | g.208326244A>T | CA350115530 | PIKFYVE | c.3433A>T (p.Ser1145Cys) c.3265A>T (p.Ser1089Cys) c.3469A>T (p.Ser1157Cys) c.3466A>T (p.Ser1156Cys) c.3451A>T (p.Ser1151Cys) c.3301A>T (p.Ser1101Cys) c.3298A>T (p.Ser1100Cys) c.3283A>T (p.Ser1095Cys) c.3178A>T (p.Ser1060Cys) c.3175A>T (p.Ser1059Cys) c.3142A>T (p.Ser1048Cys) c.2992A>T (p.Ser998Cys) c.2476A>T (p.Ser826Cys) n.3606A>T c.3415A>T (p.Ser1139Cys) c.3247A>T (p.Ser1083Cys) c.2974A>T (p.Ser992Cys) c.2824A>T (p.Ser942Cys) | |
2 | g.208326245G>A | CA350115531 | PIKFYVE | c.3434G>A (p.Ser1145Asn) c.3266G>A (p.Ser1089Asn) c.3470G>A (p.Ser1157Asn) c.3467G>A (p.Ser1156Asn) c.3452G>A (p.Ser1151Asn) c.3302G>A (p.Ser1101Asn) c.3299G>A (p.Ser1100Asn) c.3284G>A (p.Ser1095Asn) c.3179G>A (p.Ser1060Asn) c.3176G>A (p.Ser1059Asn) c.3143G>A (p.Ser1048Asn) c.2993G>A (p.Ser998Asn) c.2477G>A (p.Ser826Asn) n.3607G>A c.3416G>A (p.Ser1139Asn) c.3248G>A (p.Ser1083Asn) c.2975G>A (p.Ser992Asn) c.2825G>A (p.Ser942Asn) | |
2 | g.208326245G>C | CA350115532 | PIKFYVE | c.3434G>C (p.Ser1145Thr) c.3266G>C (p.Ser1089Thr) c.3470G>C (p.Ser1157Thr) c.3467G>C (p.Ser1156Thr) c.3452G>C (p.Ser1151Thr) c.3302G>C (p.Ser1101Thr) c.3299G>C (p.Ser1100Thr) c.3284G>C (p.Ser1095Thr) c.3179G>C (p.Ser1060Thr) c.3176G>C (p.Ser1059Thr) c.3143G>C (p.Ser1048Thr) c.2993G>C (p.Ser998Thr) c.2477G>C (p.Ser826Thr) n.3607G>C c.3416G>C (p.Ser1139Thr) c.3248G>C (p.Ser1083Thr) c.2975G>C (p.Ser992Thr) c.2825G>C (p.Ser942Thr) | |
2 | g.208326245G= | CA1324023429 | PIKFYVE | c.3434G= (p.Ser1145=) c.3266G= (p.Ser1089=) c.3470G= (p.Ser1157=) c.3467G= (p.Ser1156=) c.3452G= (p.Ser1151=) c.3302G= (p.Ser1101=) c.3299G= (p.Ser1100=) c.3284G= (p.Ser1095=) c.3179G= (p.Ser1060=) c.3176G= (p.Ser1059=) c.3143G= (p.Ser1048=) c.2993G= (p.Ser998=) c.2477G= (p.Ser826=) n.3607G= c.3416G= (p.Ser1139=) c.3248G= (p.Ser1083=) c.2975G= (p.Ser992=) c.2825G= (p.Ser942=) | |
2 | g.208326245G>T | CA350115533 | PIKFYVE | c.3434G>T (p.Ser1145Ile) c.3266G>T (p.Ser1089Ile) c.3470G>T (p.Ser1157Ile) c.3467G>T (p.Ser1156Ile) c.3452G>T (p.Ser1151Ile) c.3302G>T (p.Ser1101Ile) c.3299G>T (p.Ser1100Ile) c.3284G>T (p.Ser1095Ile) c.3179G>T (p.Ser1060Ile) c.3176G>T (p.Ser1059Ile) c.3143G>T (p.Ser1048Ile) c.2993G>T (p.Ser998Ile) c.2477G>T (p.Ser826Ile) n.3607G>T c.3416G>T (p.Ser1139Ile) c.3248G>T (p.Ser1083Ile) c.2975G>T (p.Ser992Ile) c.2825G>T (p.Ser942Ile) | |
2 | g.208326246C>A | CA350115534 | PIKFYVE | c.3435C>A (p.Ser1145Arg) c.3267C>A (p.Ser1089Arg) c.3471C>A (p.Ser1157Arg) c.3468C>A (p.Ser1156Arg) c.3453C>A (p.Ser1151Arg) c.3303C>A (p.Ser1101Arg) c.3300C>A (p.Ser1100Arg) c.3285C>A (p.Ser1095Arg) c.3180C>A (p.Ser1060Arg) c.3177C>A (p.Ser1059Arg) c.3144C>A (p.Ser1048Arg) c.2994C>A (p.Ser998Arg) c.2478C>A (p.Ser826Arg) n.3608C>A c.3417C>A (p.Ser1139Arg) c.3249C>A (p.Ser1083Arg) c.2976C>A (p.Ser992Arg) c.2826C>A (p.Ser942Arg) | |
2 | g.208326246C>G | CA350115535 | PIKFYVE | c.3435C>G (p.Ser1145Arg) c.3267C>G (p.Ser1089Arg) c.3471C>G (p.Ser1157Arg) c.3468C>G (p.Ser1156Arg) c.3453C>G (p.Ser1151Arg) c.3303C>G (p.Ser1101Arg) c.3300C>G (p.Ser1100Arg) c.3285C>G (p.Ser1095Arg) c.3180C>G (p.Ser1060Arg) c.3177C>G (p.Ser1059Arg) c.3144C>G (p.Ser1048Arg) c.2994C>G (p.Ser998Arg) c.2478C>G (p.Ser826Arg) n.3608C>G c.3417C>G (p.Ser1139Arg) c.3249C>G (p.Ser1083Arg) c.2976C>G (p.Ser992Arg) c.2826C>G (p.Ser942Arg) | |
2 | g.208326246C>T | CA431117747 | PIKFYVE | c.3435C>T (p.Ser1145=) c.3267C>T (p.Ser1089=) c.3471C>T (p.Ser1157=) c.3468C>T (p.Ser1156=) c.3453C>T (p.Ser1151=) c.3303C>T (p.Ser1101=) c.3300C>T (p.Ser1100=) c.3285C>T (p.Ser1095=) c.3180C>T (p.Ser1060=) c.3177C>T (p.Ser1059=) c.3144C>T (p.Ser1048=) c.2994C>T (p.Ser998=) c.2478C>T (p.Ser826=) n.3608C>T c.3417C>T (p.Ser1139=) c.3249C>T (p.Ser1083=) c.2976C>T (p.Ser992=) c.2826C>T (p.Ser942=) | |
2 | g.208326246_208326247insTGGCC | CA2080034 | PIKFYVE | c.3435_3436insTGGCC (p.Gln1146TrpfsTer?) c.3267_3268insTGGCC (p.Gln1090TrpfsTer?) c.3471_3472insTGGCC (p.Gln1158TrpfsTer?) c.3468_3469insTGGCC (p.Gln1157TrpfsTer?) c.3453_3454insTGGCC (p.Gln1152TrpfsTer?) c.3303_3304insTGGCC (p.Gln1102TrpfsTer?) c.3300_3301insTGGCC (p.Gln1101TrpfsTer?) c.3285_3286insTGGCC (p.Gln1096TrpfsTer?) c.3180_3181insTGGCC (p.Gln1061TrpfsTer?) c.3177_3178insTGGCC (p.Gln1060TrpfsTer?) c.3144_3145insTGGCC (p.Gln1049TrpfsTer?) c.2994_2995insTGGCC (p.Gln999TrpfsTer?) c.2478_2479insTGGCC (p.Gln827TrpfsTer?) n.3608_3609insTGGCC c.3417_3418insTGGCC (p.Gln1140TrpfsTer?) c.3249_3250insTGGCC (p.Gln1084TrpfsTer?) c.2976_2977insTGGCC (p.Gln993TrpfsTer?) c.2826_2827insTGGCC (p.Gln943TrpfsTer?) | dbSNP ExAC gnomAD v2 |
2 | g.208326246_208326247insTGG | CA2577226691 | PIKFYVE | c.3435_3436insTGG (p.Ser1145_Gln1146insTrp) c.3267_3268insTGG (p.Ser1089_Gln1090insTrp) c.3471_3472insTGG (p.Ser1157_Gln1158insTrp) c.3468_3469insTGG (p.Ser1156_Gln1157insTrp) c.3453_3454insTGG (p.Ser1151_Gln1152insTrp) c.3303_3304insTGG (p.Ser1101_Gln1102insTrp) c.3300_3301insTGG (p.Ser1100_Gln1101insTrp) c.3285_3286insTGG (p.Ser1095_Gln1096insTrp) c.3180_3181insTGG (p.Ser1060_Gln1061insTrp) c.3177_3178insTGG (p.Ser1059_Gln1060insTrp) c.3144_3145insTGG (p.Ser1048_Gln1049insTrp) c.2994_2995insTGG (p.Ser998_Gln999insTrp) c.2478_2479insTGG (p.Ser826_Gln827insTrp) n.3608_3609insTGG c.3417_3418insTGG (p.Ser1139_Gln1140insTrp) c.3249_3250insTGG (p.Ser1083_Gln1084insTrp) c.2976_2977insTGG (p.Ser992_Gln993insTrp) c.2826_2827insTGG (p.Ser942_Gln943insTrp) | |
2 | g.208326247C>A | CA350115537 | PIKFYVE | c.3436C>A (p.Gln1146Lys) c.3268C>A (p.Gln1090Lys) c.3472C>A (p.Gln1158Lys) c.3469C>A (p.Gln1157Lys) c.3454C>A (p.Gln1152Lys) c.3304C>A (p.Gln1102Lys) c.3301C>A (p.Gln1101Lys) c.3286C>A (p.Gln1096Lys) c.3181C>A (p.Gln1061Lys) c.3178C>A (p.Gln1060Lys) c.3145C>A (p.Gln1049Lys) c.2995C>A (p.Gln999Lys) c.2479C>A (p.Gln827Lys) n.3609C>A c.3418C>A (p.Gln1140Lys) c.3250C>A (p.Gln1084Lys) c.2977C>A (p.Gln993Lys) c.2827C>A (p.Gln943Lys) | |
2 | g.208326247C>G | CA350115538 | PIKFYVE | c.3436C>G (p.Gln1146Glu) c.3268C>G (p.Gln1090Glu) c.3472C>G (p.Gln1158Glu) c.3469C>G (p.Gln1157Glu) c.3454C>G (p.Gln1152Glu) c.3304C>G (p.Gln1102Glu) c.3301C>G (p.Gln1101Glu) c.3286C>G (p.Gln1096Glu) c.3181C>G (p.Gln1061Glu) c.3178C>G (p.Gln1060Glu) c.3145C>G (p.Gln1049Glu) c.2995C>G (p.Gln999Glu) c.2479C>G (p.Gln827Glu) n.3609C>G c.3418C>G (p.Gln1140Glu) c.3250C>G (p.Gln1084Glu) c.2977C>G (p.Gln993Glu) c.2827C>G (p.Gln943Glu) | |
2 | g.208326247C>T | CA350115536 | PIKFYVE | c.3436C>T (p.Gln1146Ter) c.3268C>T (p.Gln1090Ter) c.3472C>T (p.Gln1158Ter) c.3469C>T (p.Gln1157Ter) c.3454C>T (p.Gln1152Ter) c.3304C>T (p.Gln1102Ter) c.3301C>T (p.Gln1101Ter) c.3286C>T (p.Gln1096Ter) c.3181C>T (p.Gln1061Ter) c.3178C>T (p.Gln1060Ter) c.3145C>T (p.Gln1049Ter) c.2995C>T (p.Gln999Ter) c.2479C>T (p.Gln827Ter) n.3609C>T c.3418C>T (p.Gln1140Ter) c.3250C>T (p.Gln1084Ter) c.2977C>T (p.Gln993Ter) c.2827C>T (p.Gln943Ter) | |
2 | g.208326247_208326249delinsCAG | CA1324023430 | PIKFYVE | c.3436_3438delinsCAG (p.Gln1146=) c.3268_3270delinsCAG (p.Gln1090=) c.3472_3474delinsCAG (p.Gln1158=) c.3469_3471delinsCAG (p.Gln1157=) c.3454_3456delinsCAG (p.Gln1152=) c.3304_3306delinsCAG (p.Gln1102=) c.3301_3303delinsCAG (p.Gln1101=) c.3286_3288delinsCAG (p.Gln1096=) c.3181_3183delinsCAG (p.Gln1061=) c.3178_3180delinsCAG (p.Gln1060=) c.3145_3147delinsCAG (p.Gln1049=) c.2995_2997delinsCAG (p.Gln999=) c.2479_2481delinsCAG (p.Gln827=) n.3609_3611delinsCAG c.3418_3420delinsCAG (p.Gln1140=) c.3250_3252delinsCAG (p.Gln1084=) c.2977_2979delinsCAG (p.Gln993=) c.2827_2829delinsCAG (p.Gln943=) | |
2 | g.208326248A= | CA1324023431 | PIKFYVE | c.3437A= (p.Gln1146=) c.3269A= (p.Gln1090=) c.3473A= (p.Gln1158=) c.3470A= (p.Gln1157=) c.3455A= (p.Gln1152=) c.3305A= (p.Gln1102=) c.3302A= (p.Gln1101=) c.3287A= (p.Gln1096=) c.3182A= (p.Gln1061=) c.3179A= (p.Gln1060=) c.3146A= (p.Gln1049=) c.2996A= (p.Gln999=) c.2480A= (p.Gln827=) n.3610A= c.3419A= (p.Gln1140=) c.3251A= (p.Gln1084=) c.2978A= (p.Gln993=) c.2828A= (p.Gln943=) | |
2 | g.208326248A>C | CA350115539 | PIKFYVE | c.3437A>C (p.Gln1146Pro) c.3269A>C (p.Gln1090Pro) c.3473A>C (p.Gln1158Pro) c.3470A>C (p.Gln1157Pro) c.3455A>C (p.Gln1152Pro) c.3305A>C (p.Gln1102Pro) c.3302A>C (p.Gln1101Pro) c.3287A>C (p.Gln1096Pro) c.3182A>C (p.Gln1061Pro) c.3179A>C (p.Gln1060Pro) c.3146A>C (p.Gln1049Pro) c.2996A>C (p.Gln999Pro) c.2480A>C (p.Gln827Pro) n.3610A>C c.3419A>C (p.Gln1140Pro) c.3251A>C (p.Gln1084Pro) c.2978A>C (p.Gln993Pro) c.2828A>C (p.Gln943Pro) | |
2 | g.208326248A>G | CA2080036 | PIKFYVE | c.3437A>G (p.Gln1146Arg) c.3269A>G (p.Gln1090Arg) c.3473A>G (p.Gln1158Arg) c.3470A>G (p.Gln1157Arg) c.3455A>G (p.Gln1152Arg) c.3305A>G (p.Gln1102Arg) c.3302A>G (p.Gln1101Arg) c.3287A>G (p.Gln1096Arg) c.3182A>G (p.Gln1061Arg) c.3179A>G (p.Gln1060Arg) c.3146A>G (p.Gln1049Arg) c.2996A>G (p.Gln999Arg) c.2480A>G (p.Gln827Arg) n.3610A>G c.3419A>G (p.Gln1140Arg) c.3251A>G (p.Gln1084Arg) c.2978A>G (p.Gln993Arg) c.2828A>G (p.Gln943Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.208326248A>T | CA350115540 | PIKFYVE | c.3437A>T (p.Gln1146Leu) c.3269A>T (p.Gln1090Leu) c.3473A>T (p.Gln1158Leu) c.3470A>T (p.Gln1157Leu) c.3455A>T (p.Gln1152Leu) c.3305A>T (p.Gln1102Leu) c.3302A>T (p.Gln1101Leu) c.3287A>T (p.Gln1096Leu) c.3182A>T (p.Gln1061Leu) c.3179A>T (p.Gln1060Leu) c.3146A>T (p.Gln1049Leu) c.2996A>T (p.Gln999Leu) c.2480A>T (p.Gln827Leu) n.3610A>T c.3419A>T (p.Gln1140Leu) c.3251A>T (p.Gln1084Leu) c.2978A>T (p.Gln993Leu) c.2828A>T (p.Gln943Leu) | |
2 | g.208326250_208326251del | CA2080035 | PIKFYVE | c.3439_3440del (p.Ser1147LeufsTer3) c.3271_3272del (p.Ser1091LeufsTer3) c.3475_3476del (p.Ser1159LeufsTer3) c.3472_3473del (p.Ser1158LeufsTer3) c.3457_3458del (p.Ser1153LeufsTer3) c.3307_3308del (p.Ser1103LeufsTer3) c.3304_3305del (p.Ser1102LeufsTer3) c.3289_3290del (p.Ser1097LeufsTer3) c.3184_3185del (p.Ser1062LeufsTer3) c.3181_3182del (p.Ser1061LeufsTer3) c.3148_3149del (p.Ser1050LeufsTer3) c.2998_2999del (p.Ser1000LeufsTer3) c.2482_2483del (p.Ser828LeufsTer3) n.3612_3613del c.3421_3422del (p.Ser1141LeufsTer3) c.3253_3254del (p.Ser1085LeufsTer3) c.2980_2981del (p.Ser994LeufsTer3) c.2830_2831del (p.Ser944LeufsTer3) | dbSNP ExAC gnomAD v2 |
2 | g.208326249G>A | CA431117758 | PIKFYVE | c.3438G>A (p.Gln1146=) c.3270G>A (p.Gln1090=) c.3474G>A (p.Gln1158=) c.3471G>A (p.Gln1157=) c.3456G>A (p.Gln1152=) c.3306G>A (p.Gln1102=) c.3303G>A (p.Gln1101=) c.3288G>A (p.Gln1096=) c.3183G>A (p.Gln1061=) c.3180G>A (p.Gln1060=) c.3147G>A (p.Gln1049=) c.2997G>A (p.Gln999=) c.2481G>A (p.Gln827=) n.3611G>A c.3420G>A (p.Gln1140=) c.3252G>A (p.Gln1084=) c.2979G>A (p.Gln993=) c.2829G>A (p.Gln943=) | |
2 | g.208326249G>C | CA350115541 | PIKFYVE | c.3438G>C (p.Gln1146His) c.3270G>C (p.Gln1090His) c.3474G>C (p.Gln1158His) c.3471G>C (p.Gln1157His) c.3456G>C (p.Gln1152His) c.3306G>C (p.Gln1102His) c.3303G>C (p.Gln1101His) c.3288G>C (p.Gln1096His) c.3183G>C (p.Gln1061His) c.3180G>C (p.Gln1060His) c.3147G>C (p.Gln1049His) c.2997G>C (p.Gln999His) c.2481G>C (p.Gln827His) n.3611G>C c.3420G>C (p.Gln1140His) c.3252G>C (p.Gln1084His) c.2979G>C (p.Gln993His) c.2829G>C (p.Gln943His) | |
2 | g.208326249G= | CA1324023432 | PIKFYVE | c.3438G= (p.Gln1146=) c.3270G= (p.Gln1090=) c.3474G= (p.Gln1158=) c.3471G= (p.Gln1157=) c.3456G= (p.Gln1152=) c.3306G= (p.Gln1102=) c.3303G= (p.Gln1101=) c.3288G= (p.Gln1096=) c.3183G= (p.Gln1061=) c.3180G= (p.Gln1060=) c.3147G= (p.Gln1049=) c.2997G= (p.Gln999=) c.2481G= (p.Gln827=) n.3611G= c.3420G= (p.Gln1140=) c.3252G= (p.Gln1084=) c.2979G= (p.Gln993=) c.2829G= (p.Gln943=) | |
2 | g.208326249G>T | CA350115542 | PIKFYVE | c.3438G>T (p.Gln1146His) c.3270G>T (p.Gln1090His) c.3474G>T (p.Gln1158His) c.3471G>T (p.Gln1157His) c.3456G>T (p.Gln1152His) c.3306G>T (p.Gln1102His) c.3303G>T (p.Gln1101His) c.3288G>T (p.Gln1096His) c.3183G>T (p.Gln1061His) c.3180G>T (p.Gln1060His) c.3147G>T (p.Gln1049His) c.2997G>T (p.Gln999His) c.2481G>T (p.Gln827His) n.3611G>T c.3420G>T (p.Gln1140His) c.3252G>T (p.Gln1084His) c.2979G>T (p.Gln993His) c.2829G>T (p.Gln943His) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208326250A= | CA1324023433 | PIKFYVE | c.3439A= (p.Ser1147=) c.3271A= (p.Ser1091=) c.3475A= (p.Ser1159=) c.3472A= (p.Ser1158=) c.3457A= (p.Ser1153=) c.3307A= (p.Ser1103=) c.3304A= (p.Ser1102=) c.3289A= (p.Ser1097=) c.3184A= (p.Ser1062=) c.3181A= (p.Ser1061=) c.3148A= (p.Ser1050=) c.2998A= (p.Ser1000=) c.2482A= (p.Ser828=) n.3612A= c.3421A= (p.Ser1141=) c.3253A= (p.Ser1085=) c.2980A= (p.Ser994=) c.2830A= (p.Ser944=) | |
2 | g.208326250A>C | CA350115543 | PIKFYVE | c.3439A>C (p.Ser1147Arg) c.3271A>C (p.Ser1091Arg) c.3475A>C (p.Ser1159Arg) c.3472A>C (p.Ser1158Arg) c.3457A>C (p.Ser1153Arg) c.3307A>C (p.Ser1103Arg) c.3304A>C (p.Ser1102Arg) c.3289A>C (p.Ser1097Arg) c.3184A>C (p.Ser1062Arg) c.3181A>C (p.Ser1061Arg) c.3148A>C (p.Ser1050Arg) c.2998A>C (p.Ser1000Arg) c.2482A>C (p.Ser828Arg) n.3612A>C c.3421A>C (p.Ser1141Arg) c.3253A>C (p.Ser1085Arg) c.2980A>C (p.Ser994Arg) c.2830A>C (p.Ser944Arg) | dbSNP gnomAD v4 |
2 | g.208326250A>G | CA350115545 | PIKFYVE | c.3439A>G (p.Ser1147Gly) c.3271A>G (p.Ser1091Gly) c.3475A>G (p.Ser1159Gly) c.3472A>G (p.Ser1158Gly) c.3457A>G (p.Ser1153Gly) c.3307A>G (p.Ser1103Gly) c.3304A>G (p.Ser1102Gly) c.3289A>G (p.Ser1097Gly) c.3184A>G (p.Ser1062Gly) c.3181A>G (p.Ser1061Gly) c.3148A>G (p.Ser1050Gly) c.2998A>G (p.Ser1000Gly) c.2482A>G (p.Ser828Gly) n.3612A>G c.3421A>G (p.Ser1141Gly) c.3253A>G (p.Ser1085Gly) c.2980A>G (p.Ser994Gly) c.2830A>G (p.Ser944Gly) | |
2 | g.208326250A>T | CA350115544 | PIKFYVE | c.3439A>T (p.Ser1147Cys) c.3271A>T (p.Ser1091Cys) c.3475A>T (p.Ser1159Cys) c.3472A>T (p.Ser1158Cys) c.3457A>T (p.Ser1153Cys) c.3307A>T (p.Ser1103Cys) c.3304A>T (p.Ser1102Cys) c.3289A>T (p.Ser1097Cys) c.3184A>T (p.Ser1062Cys) c.3181A>T (p.Ser1061Cys) c.3148A>T (p.Ser1050Cys) c.2998A>T (p.Ser1000Cys) c.2482A>T (p.Ser828Cys) n.3612A>T c.3421A>T (p.Ser1141Cys) c.3253A>T (p.Ser1085Cys) c.2980A>T (p.Ser994Cys) c.2830A>T (p.Ser944Cys) | |
2 | g.208326251G>A | CA350115546 | PIKFYVE | c.3440G>A (p.Ser1147Asn) c.3272G>A (p.Ser1091Asn) c.3476G>A (p.Ser1159Asn) c.3473G>A (p.Ser1158Asn) c.3458G>A (p.Ser1153Asn) c.3308G>A (p.Ser1103Asn) c.3305G>A (p.Ser1102Asn) c.3290G>A (p.Ser1097Asn) c.3185G>A (p.Ser1062Asn) c.3182G>A (p.Ser1061Asn) c.3149G>A (p.Ser1050Asn) c.2999G>A (p.Ser1000Asn) c.2483G>A (p.Ser828Asn) n.3613G>A c.3422G>A (p.Ser1141Asn) c.3254G>A (p.Ser1085Asn) c.2981G>A (p.Ser994Asn) c.2831G>A (p.Ser944Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208326251G>C | CA350115547 | PIKFYVE | c.3440G>C (p.Ser1147Thr) c.3272G>C (p.Ser1091Thr) c.3476G>C (p.Ser1159Thr) c.3473G>C (p.Ser1158Thr) c.3458G>C (p.Ser1153Thr) c.3308G>C (p.Ser1103Thr) c.3305G>C (p.Ser1102Thr) c.3290G>C (p.Ser1097Thr) c.3185G>C (p.Ser1062Thr) c.3182G>C (p.Ser1061Thr) c.3149G>C (p.Ser1050Thr) c.2999G>C (p.Ser1000Thr) c.2483G>C (p.Ser828Thr) n.3613G>C c.3422G>C (p.Ser1141Thr) c.3254G>C (p.Ser1085Thr) c.2981G>C (p.Ser994Thr) c.2831G>C (p.Ser944Thr) | |
2 | g.208326251G= | CA1324023434 | PIKFYVE | c.3440G= (p.Ser1147=) c.3272G= (p.Ser1091=) c.3476G= (p.Ser1159=) c.3473G= (p.Ser1158=) c.3458G= (p.Ser1153=) c.3308G= (p.Ser1103=) c.3305G= (p.Ser1102=) c.3290G= (p.Ser1097=) c.3185G= (p.Ser1062=) c.3182G= (p.Ser1061=) c.3149G= (p.Ser1050=) c.2999G= (p.Ser1000=) c.2483G= (p.Ser828=) n.3613G= c.3422G= (p.Ser1141=) c.3254G= (p.Ser1085=) c.2981G= (p.Ser994=) c.2831G= (p.Ser944=) | |
2 | g.208326251G>T | CA350115548 | PIKFYVE | c.3440G>T (p.Ser1147Ile) c.3272G>T (p.Ser1091Ile) c.3476G>T (p.Ser1159Ile) c.3473G>T (p.Ser1158Ile) c.3458G>T (p.Ser1153Ile) c.3308G>T (p.Ser1103Ile) c.3305G>T (p.Ser1102Ile) c.3290G>T (p.Ser1097Ile) c.3185G>T (p.Ser1062Ile) c.3182G>T (p.Ser1061Ile) c.3149G>T (p.Ser1050Ile) c.2999G>T (p.Ser1000Ile) c.2483G>T (p.Ser828Ile) n.3613G>T c.3422G>T (p.Ser1141Ile) c.3254G>T (p.Ser1085Ile) c.2981G>T (p.Ser994Ile) c.2831G>T (p.Ser944Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.208326251_208326252insAGATCC | CA1324023436 | PIKFYVE | c.3440_3441insAGATCC (p.Ser1147delinsArgAspPro) c.3272_3273insAGATCC (p.Ser1091delinsArgAspPro) c.3476_3477insAGATCC (p.Ser1159delinsArgAspPro) c.3473_3474insAGATCC (p.Ser1158delinsArgAspPro) c.3458_3459insAGATCC (p.Ser1153delinsArgAspPro) c.3308_3309insAGATCC (p.Ser1103delinsArgAspPro) c.3305_3306insAGATCC (p.Ser1102delinsArgAspPro) c.3290_3291insAGATCC (p.Ser1097delinsArgAspPro) c.3185_3186insAGATCC (p.Ser1062delinsArgAspPro) c.3182_3183insAGATCC (p.Ser1061delinsArgAspPro) c.3149_3150insAGATCC (p.Ser1050delinsArgAspPro) c.2999_3000insAGATCC (p.Ser1000delinsArgAspPro) c.2483_2484insAGATCC (p.Ser828delinsArgAspPro) n.3613_3614insAGATCC c.3422_3423insAGATCC (p.Ser1141delinsArgAspPro) c.3254_3255insAGATCC (p.Ser1085delinsArgAspPro) c.2981_2982insAGATCC (p.Ser994delinsArgAspPro) c.2831_2832insAGATCC (p.Ser944delinsArgAspPro) | dbSNP |
2 | g.208326252C>A | CA350115549 | PIKFYVE | c.3441C>A (p.Ser1147Arg) c.3273C>A (p.Ser1091Arg) c.3477C>A (p.Ser1159Arg) c.3474C>A (p.Ser1158Arg) c.3459C>A (p.Ser1153Arg) c.3309C>A (p.Ser1103Arg) c.3306C>A (p.Ser1102Arg) c.3291C>A (p.Ser1097Arg) c.3186C>A (p.Ser1062Arg) c.3183C>A (p.Ser1061Arg) c.3150C>A (p.Ser1050Arg) c.3000C>A (p.Ser1000Arg) c.2484C>A (p.Ser828Arg) n.3614C>A c.3423C>A (p.Ser1141Arg) c.3255C>A (p.Ser1085Arg) c.2982C>A (p.Ser994Arg) c.2832C>A (p.Ser944Arg) | gnomAD v4 |
2 | g.208326252C>G | CA350115550 | PIKFYVE | c.3441C>G (p.Ser1147Arg) c.3273C>G (p.Ser1091Arg) c.3477C>G (p.Ser1159Arg) c.3474C>G (p.Ser1158Arg) c.3459C>G (p.Ser1153Arg) c.3309C>G (p.Ser1103Arg) c.3306C>G (p.Ser1102Arg) c.3291C>G (p.Ser1097Arg) c.3186C>G (p.Ser1062Arg) c.3183C>G (p.Ser1061Arg) c.3150C>G (p.Ser1050Arg) c.3000C>G (p.Ser1000Arg) c.2484C>G (p.Ser828Arg) n.3614C>G c.3423C>G (p.Ser1141Arg) c.3255C>G (p.Ser1085Arg) c.2982C>G (p.Ser994Arg) c.2832C>G (p.Ser944Arg) | |
2 | g.208326252C>T | CA431117768 | PIKFYVE | c.3441C>T (p.Ser1147=) c.3273C>T (p.Ser1091=) c.3477C>T (p.Ser1159=) c.3474C>T (p.Ser1158=) c.3459C>T (p.Ser1153=) c.3309C>T (p.Ser1103=) c.3306C>T (p.Ser1102=) c.3291C>T (p.Ser1097=) c.3186C>T (p.Ser1062=) c.3183C>T (p.Ser1061=) c.3150C>T (p.Ser1050=) c.3000C>T (p.Ser1000=) c.2484C>T (p.Ser828=) n.3614C>T c.3423C>T (p.Ser1141=) c.3255C>T (p.Ser1085=) c.2982C>T (p.Ser994=) c.2832C>T (p.Ser944=) | |
2 | g.208326252_208326253delinsCT | CA1324023435 | PIKFYVE | c.3441_3442delinsCT (p.Ser1147=) c.3273_3274delinsCT (p.Ser1091=) c.3477_3478delinsCT (p.Ser1159=) c.3474_3475delinsCT (p.Ser1158=) c.3459_3460delinsCT (p.Ser1153=) c.3309_3310delinsCT (p.Ser1103=) c.3306_3307delinsCT (p.Ser1102=) c.3291_3292delinsCT (p.Ser1097=) c.3186_3187delinsCT (p.Ser1062=) c.3183_3184delinsCT (p.Ser1061=) c.3150_3151delinsCT (p.Ser1050=) c.3000_3001delinsCT (p.Ser1000=) c.2484_2485delinsCT (p.Ser828=) n.3614_3615delinsCT c.3423_3424delinsCT (p.Ser1141=) c.3255_3256delinsCT (p.Ser1085=) c.2982_2983delinsCT (p.Ser994=) c.2832_2833delinsCT (p.Ser944=) | |
2 | g.208326253T>A | CA350115551 | PIKFYVE | c.3442T>A (p.Leu1148Met) c.3274T>A (p.Leu1092Met) c.3478T>A (p.Leu1160Met) c.3475T>A (p.Leu1159Met) c.3460T>A (p.Leu1154Met) c.3310T>A (p.Leu1104Met) c.3307T>A (p.Leu1103Met) c.3292T>A (p.Leu1098Met) c.3187T>A (p.Leu1063Met) c.3184T>A (p.Leu1062Met) c.3151T>A (p.Leu1051Met) c.3001T>A (p.Leu1001Met) c.2485T>A (p.Leu829Met) n.3615T>A c.3424T>A (p.Leu1142Met) c.3256T>A (p.Leu1086Met) c.2983T>A (p.Leu995Met) c.2833T>A (p.Leu945Met) | |
2 | g.208326253T>C | CA431117770 | PIKFYVE | c.3442T>C (p.Leu1148=) c.3274T>C (p.Leu1092=) c.3478T>C (p.Leu1160=) c.3475T>C (p.Leu1159=) c.3460T>C (p.Leu1154=) c.3310T>C (p.Leu1104=) c.3307T>C (p.Leu1103=) c.3292T>C (p.Leu1098=) c.3187T>C (p.Leu1063=) c.3184T>C (p.Leu1062=) c.3151T>C (p.Leu1051=) c.3001T>C (p.Leu1001=) c.2485T>C (p.Leu829=) n.3615T>C c.3424T>C (p.Leu1142=) c.3256T>C (p.Leu1086=) c.2983T>C (p.Leu995=) c.2833T>C (p.Leu945=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208326253T>G | CA350115552 | PIKFYVE | c.3442T>G (p.Leu1148Val) c.3274T>G (p.Leu1092Val) c.3478T>G (p.Leu1160Val) c.3475T>G (p.Leu1159Val) c.3460T>G (p.Leu1154Val) c.3310T>G (p.Leu1104Val) c.3307T>G (p.Leu1103Val) c.3292T>G (p.Leu1098Val) c.3187T>G (p.Leu1063Val) c.3184T>G (p.Leu1062Val) c.3151T>G (p.Leu1051Val) c.3001T>G (p.Leu1001Val) c.2485T>G (p.Leu829Val) n.3615T>G c.3424T>G (p.Leu1142Val) c.3256T>G (p.Leu1086Val) c.2983T>G (p.Leu995Val) c.2833T>G (p.Leu945Val) | |
2 | g.208326253T= | CA1324023437 | PIKFYVE | c.3442T= (p.Leu1148=) c.3274T= (p.Leu1092=) c.3478T= (p.Leu1160=) c.3475T= (p.Leu1159=) c.3460T= (p.Leu1154=) c.3310T= (p.Leu1104=) c.3307T= (p.Leu1103=) c.3292T= (p.Leu1098=) c.3187T= (p.Leu1063=) c.3184T= (p.Leu1062=) c.3151T= (p.Leu1051=) c.3001T= (p.Leu1001=) c.2485T= (p.Leu829=) n.3615T= c.3424T= (p.Leu1142=) c.3256T= (p.Leu1086=) c.2983T= (p.Leu995=) c.2833T= (p.Leu945=) | |
2 | g.208326254del | CA2080037 | PIKFYVE | c.3443del (p.Leu1148TrpfsTer?) c.3275del (p.Leu1092TrpfsTer?) c.3479del (p.Leu1160TrpfsTer?) c.3476del (p.Leu1159TrpfsTer?) c.3461del (p.Leu1154TrpfsTer?) c.3311del (p.Leu1104TrpfsTer?) c.3308del (p.Leu1103TrpfsTer?) c.3293del (p.Leu1098TrpfsTer?) c.3188del (p.Leu1063TrpfsTer?) c.3185del (p.Leu1062TrpfsTer?) c.3152del (p.Leu1051TrpfsTer?) c.3002del (p.Leu1001TrpfsTer?) c.2486del (p.Leu829TrpfsTer?) n.3616del c.3425del (p.Leu1142TrpfsTer?) c.3257del (p.Leu1086TrpfsTer?) c.2984del (p.Leu995TrpfsTer?) c.2834del (p.Leu945TrpfsTer?) | dbSNP ExAC gnomAD v2 |
2 | g.208326254T>A | CA350115554 | PIKFYVE | c.3443T>A (p.Leu1148Ter) c.3275T>A (p.Leu1092Ter) c.3479T>A (p.Leu1160Ter) c.3476T>A (p.Leu1159Ter) c.3461T>A (p.Leu1154Ter) c.3311T>A (p.Leu1104Ter) c.3308T>A (p.Leu1103Ter) c.3293T>A (p.Leu1098Ter) c.3188T>A (p.Leu1063Ter) c.3185T>A (p.Leu1062Ter) c.3152T>A (p.Leu1051Ter) c.3002T>A (p.Leu1001Ter) c.2486T>A (p.Leu829Ter) n.3616T>A c.3425T>A (p.Leu1142Ter) c.3257T>A (p.Leu1086Ter) c.2984T>A (p.Leu995Ter) c.2834T>A (p.Leu945Ter) | |
2 | g.208326254T>C | CA350115553 | PIKFYVE | c.3443T>C (p.Leu1148Ser) c.3275T>C (p.Leu1092Ser) c.3479T>C (p.Leu1160Ser) c.3476T>C (p.Leu1159Ser) c.3461T>C (p.Leu1154Ser) c.3311T>C (p.Leu1104Ser) c.3308T>C (p.Leu1103Ser) c.3293T>C (p.Leu1098Ser) c.3188T>C (p.Leu1063Ser) c.3185T>C (p.Leu1062Ser) c.3152T>C (p.Leu1051Ser) c.3002T>C (p.Leu1001Ser) c.2486T>C (p.Leu829Ser) n.3616T>C c.3425T>C (p.Leu1142Ser) c.3257T>C (p.Leu1086Ser) c.2984T>C (p.Leu995Ser) c.2834T>C (p.Leu945Ser) | |
2 | g.208326254T>G | CA350115555 | PIKFYVE | c.3443T>G (p.Leu1148Trp) c.3275T>G (p.Leu1092Trp) c.3479T>G (p.Leu1160Trp) c.3476T>G (p.Leu1159Trp) c.3461T>G (p.Leu1154Trp) c.3311T>G (p.Leu1104Trp) c.3308T>G (p.Leu1103Trp) c.3293T>G (p.Leu1098Trp) c.3188T>G (p.Leu1063Trp) c.3185T>G (p.Leu1062Trp) c.3152T>G (p.Leu1051Trp) c.3002T>G (p.Leu1001Trp) c.2486T>G (p.Leu829Trp) n.3616T>G c.3425T>G (p.Leu1142Trp) c.3257T>G (p.Leu1086Trp) c.2984T>G (p.Leu995Trp) c.2834T>G (p.Leu945Trp) | |
2 | g.208326255G>A | CA431117775 | PIKFYVE | c.3444G>A (p.Leu1148=) c.3276G>A (p.Leu1092=) c.3480G>A (p.Leu1160=) c.3477G>A (p.Leu1159=) c.3462G>A (p.Leu1154=) c.3312G>A (p.Leu1104=) c.3309G>A (p.Leu1103=) c.3294G>A (p.Leu1098=) c.3189G>A (p.Leu1063=) c.3186G>A (p.Leu1062=) c.3153G>A (p.Leu1051=) c.3003G>A (p.Leu1001=) c.2487G>A (p.Leu829=) n.3617G>A c.3426G>A (p.Leu1142=) c.3258G>A (p.Leu1086=) c.2985G>A (p.Leu995=) c.2835G>A (p.Leu945=) | gnomAD v4 |
2 | g.208326255G>C | CA350115556 | PIKFYVE | c.3444G>C (p.Leu1148Phe) c.3276G>C (p.Leu1092Phe) c.3480G>C (p.Leu1160Phe) c.3477G>C (p.Leu1159Phe) c.3462G>C (p.Leu1154Phe) c.3312G>C (p.Leu1104Phe) c.3309G>C (p.Leu1103Phe) c.3294G>C (p.Leu1098Phe) c.3189G>C (p.Leu1063Phe) c.3186G>C (p.Leu1062Phe) c.3153G>C (p.Leu1051Phe) c.3003G>C (p.Leu1001Phe) c.2487G>C (p.Leu829Phe) n.3617G>C c.3426G>C (p.Leu1142Phe) c.3258G>C (p.Leu1086Phe) c.2985G>C (p.Leu995Phe) c.2835G>C (p.Leu945Phe) | |
2 | g.208326255G>T | CA350115557 | PIKFYVE | c.3444G>T (p.Leu1148Phe) c.3276G>T (p.Leu1092Phe) c.3480G>T (p.Leu1160Phe) c.3477G>T (p.Leu1159Phe) c.3462G>T (p.Leu1154Phe) c.3312G>T (p.Leu1104Phe) c.3309G>T (p.Leu1103Phe) c.3294G>T (p.Leu1098Phe) c.3189G>T (p.Leu1063Phe) c.3186G>T (p.Leu1062Phe) c.3153G>T (p.Leu1051Phe) c.3003G>T (p.Leu1001Phe) c.2487G>T (p.Leu829Phe) n.3617G>T c.3426G>T (p.Leu1142Phe) c.3258G>T (p.Leu1086Phe) c.2985G>T (p.Leu995Phe) c.2835G>T (p.Leu945Phe) | gnomAD v4 |
2 | g.208326256G>A | CA350115558 | PIKFYVE | c.3445G>A (p.Gly1149Ser) c.3277G>A (p.Gly1093Ser) c.3481G>A (p.Gly1161Ser) c.3478G>A (p.Gly1160Ser) c.3463G>A (p.Gly1155Ser) c.3313G>A (p.Gly1105Ser) c.3310G>A (p.Gly1104Ser) c.3295G>A (p.Gly1099Ser) c.3190G>A (p.Gly1064Ser) c.3187G>A (p.Gly1063Ser) c.3154G>A (p.Gly1052Ser) c.3004G>A (p.Gly1002Ser) c.2488G>A (p.Gly830Ser) n.3618G>A c.3427G>A (p.Gly1143Ser) c.3259G>A (p.Gly1087Ser) c.2986G>A (p.Gly996Ser) c.2836G>A (p.Gly946Ser) | |
2 | g.208326256G>C | CA350115559 | PIKFYVE | c.3445G>C (p.Gly1149Arg) c.3277G>C (p.Gly1093Arg) c.3481G>C (p.Gly1161Arg) c.3478G>C (p.Gly1160Arg) c.3463G>C (p.Gly1155Arg) c.3313G>C (p.Gly1105Arg) c.3310G>C (p.Gly1104Arg) c.3295G>C (p.Gly1099Arg) c.3190G>C (p.Gly1064Arg) c.3187G>C (p.Gly1063Arg) c.3154G>C (p.Gly1052Arg) c.3004G>C (p.Gly1002Arg) c.2488G>C (p.Gly830Arg) n.3618G>C c.3427G>C (p.Gly1143Arg) c.3259G>C (p.Gly1087Arg) c.2986G>C (p.Gly996Arg) c.2836G>C (p.Gly946Arg) | |
2 | g.208326256G>T | CA350115560 | PIKFYVE | c.3445G>T (p.Gly1149Cys) c.3277G>T (p.Gly1093Cys) c.3481G>T (p.Gly1161Cys) c.3478G>T (p.Gly1160Cys) c.3463G>T (p.Gly1155Cys) c.3313G>T (p.Gly1105Cys) c.3310G>T (p.Gly1104Cys) c.3295G>T (p.Gly1099Cys) c.3190G>T (p.Gly1064Cys) c.3187G>T (p.Gly1063Cys) c.3154G>T (p.Gly1052Cys) c.3004G>T (p.Gly1002Cys) c.2488G>T (p.Gly830Cys) n.3618G>T c.3427G>T (p.Gly1143Cys) c.3259G>T (p.Gly1087Cys) c.2986G>T (p.Gly996Cys) c.2836G>T (p.Gly946Cys) | gnomAD v4 |
2 | g.208326257G>A | CA350115561 | PIKFYVE | c.3446G>A (p.Gly1149Asp) c.3278G>A (p.Gly1093Asp) c.3482G>A (p.Gly1161Asp) c.3479G>A (p.Gly1160Asp) c.3464G>A (p.Gly1155Asp) c.3314G>A (p.Gly1105Asp) c.3311G>A (p.Gly1104Asp) c.3296G>A (p.Gly1099Asp) c.3191G>A (p.Gly1064Asp) c.3188G>A (p.Gly1063Asp) c.3155G>A (p.Gly1052Asp) c.3005G>A (p.Gly1002Asp) c.2489G>A (p.Gly830Asp) n.3619G>A c.3428G>A (p.Gly1143Asp) c.3260G>A (p.Gly1087Asp) c.2987G>A (p.Gly996Asp) c.2837G>A (p.Gly946Asp) | |
2 | g.208326257G>C | CA350115562 | PIKFYVE | c.3446G>C (p.Gly1149Ala) c.3278G>C (p.Gly1093Ala) c.3482G>C (p.Gly1161Ala) c.3479G>C (p.Gly1160Ala) c.3464G>C (p.Gly1155Ala) c.3314G>C (p.Gly1105Ala) c.3311G>C (p.Gly1104Ala) c.3296G>C (p.Gly1099Ala) c.3191G>C (p.Gly1064Ala) c.3188G>C (p.Gly1063Ala) c.3155G>C (p.Gly1052Ala) c.3005G>C (p.Gly1002Ala) c.2489G>C (p.Gly830Ala) n.3619G>C c.3428G>C (p.Gly1143Ala) c.3260G>C (p.Gly1087Ala) c.2987G>C (p.Gly996Ala) c.2837G>C (p.Gly946Ala) | |
2 | g.208326257G>T | CA350115563 | PIKFYVE | c.3446G>T (p.Gly1149Val) c.3278G>T (p.Gly1093Val) c.3482G>T (p.Gly1161Val) c.3479G>T (p.Gly1160Val) c.3464G>T (p.Gly1155Val) c.3314G>T (p.Gly1105Val) c.3311G>T (p.Gly1104Val) c.3296G>T (p.Gly1099Val) c.3191G>T (p.Gly1064Val) c.3188G>T (p.Gly1063Val) c.3155G>T (p.Gly1052Val) c.3005G>T (p.Gly1002Val) c.2489G>T (p.Gly830Val) n.3619G>T c.3428G>T (p.Gly1143Val) c.3260G>T (p.Gly1087Val) c.2987G>T (p.Gly996Val) c.2837G>T (p.Gly946Val) | gnomAD v4 |
2 | g.208326258T>A | CA431117780 | PIKFYVE | c.3447T>A (p.Gly1149=) c.3279T>A (p.Gly1093=) c.3483T>A (p.Gly1161=) c.3480T>A (p.Gly1160=) c.3465T>A (p.Gly1155=) c.3315T>A (p.Gly1105=) c.3312T>A (p.Gly1104=) c.3297T>A (p.Gly1099=) c.3192T>A (p.Gly1064=) c.3189T>A (p.Gly1063=) c.3156T>A (p.Gly1052=) c.3006T>A (p.Gly1002=) c.2490T>A (p.Gly830=) n.3620T>A c.3429T>A (p.Gly1143=) c.3261T>A (p.Gly1087=) c.2988T>A (p.Gly996=) c.2838T>A (p.Gly946=) | |
2 | g.208326258T>C | CA431117779 | PIKFYVE | c.3447T>C (p.Gly1149=) c.3279T>C (p.Gly1093=) c.3483T>C (p.Gly1161=) c.3480T>C (p.Gly1160=) c.3465T>C (p.Gly1155=) c.3315T>C (p.Gly1105=) c.3312T>C (p.Gly1104=) c.3297T>C (p.Gly1099=) c.3192T>C (p.Gly1064=) c.3189T>C (p.Gly1063=) c.3156T>C (p.Gly1052=) c.3006T>C (p.Gly1002=) c.2490T>C (p.Gly830=) n.3620T>C c.3429T>C (p.Gly1143=) c.3261T>C (p.Gly1087=) c.2988T>C (p.Gly996=) c.2838T>C (p.Gly946=) | |
2 | g.208326258T>G | CA431117778 | PIKFYVE | c.3447T>G (p.Gly1149=) c.3279T>G (p.Gly1093=) c.3483T>G (p.Gly1161=) c.3480T>G (p.Gly1160=) c.3465T>G (p.Gly1155=) c.3315T>G (p.Gly1105=) c.3312T>G (p.Gly1104=) c.3297T>G (p.Gly1099=) c.3192T>G (p.Gly1064=) c.3189T>G (p.Gly1063=) c.3156T>G (p.Gly1052=) c.3006T>G (p.Gly1002=) c.2490T>G (p.Gly830=) n.3620T>G c.3429T>G (p.Gly1143=) c.3261T>G (p.Gly1087=) c.2988T>G (p.Gly996=) c.2838T>G (p.Gly946=) | |
2 | g.208326259A>C | CA431117782 | PIKFYVE | c.3448A>C (p.Arg1150=) c.3280A>C (p.Arg1094=) c.3484A>C (p.Arg1162=) c.3481A>C (p.Arg1161=) c.3466A>C (p.Arg1156=) c.3316A>C (p.Arg1106=) c.3313A>C (p.Arg1105=) c.3298A>C (p.Arg1100=) c.3193A>C (p.Arg1065=) c.3190A>C (p.Arg1064=) c.3157A>C (p.Arg1053=) c.3007A>C (p.Arg1003=) c.2491A>C (p.Arg831=) n.3621A>C c.3430A>C (p.Arg1144=) c.3262A>C (p.Arg1088=) c.2989A>C (p.Arg997=) c.2839A>C (p.Arg947=) | |
2 | g.208326259A>G | CA350115564 | PIKFYVE | c.3448A>G (p.Arg1150Gly) c.3280A>G (p.Arg1094Gly) c.3484A>G (p.Arg1162Gly) c.3481A>G (p.Arg1161Gly) c.3466A>G (p.Arg1156Gly) c.3316A>G (p.Arg1106Gly) c.3313A>G (p.Arg1105Gly) c.3298A>G (p.Arg1100Gly) c.3193A>G (p.Arg1065Gly) c.3190A>G (p.Arg1064Gly) c.3157A>G (p.Arg1053Gly) c.3007A>G (p.Arg1003Gly) c.2491A>G (p.Arg831Gly) n.3621A>G c.3430A>G (p.Arg1144Gly) c.3262A>G (p.Arg1088Gly) c.2989A>G (p.Arg997Gly) c.2839A>G (p.Arg947Gly) | |
2 | g.208326259A>T | CA350115565 | PIKFYVE | c.3448A>T (p.Arg1150Ter) c.3280A>T (p.Arg1094Ter) c.3484A>T (p.Arg1162Ter) c.3481A>T (p.Arg1161Ter) c.3466A>T (p.Arg1156Ter) c.3316A>T (p.Arg1106Ter) c.3313A>T (p.Arg1105Ter) c.3298A>T (p.Arg1100Ter) c.3193A>T (p.Arg1065Ter) c.3190A>T (p.Arg1064Ter) c.3157A>T (p.Arg1053Ter) c.3007A>T (p.Arg1003Ter) c.2491A>T (p.Arg831Ter) n.3621A>T c.3430A>T (p.Arg1144Ter) c.3262A>T (p.Arg1088Ter) c.2989A>T (p.Arg997Ter) c.2839A>T (p.Arg947Ter) | |
2 | g.208326260G>A | CA350115566 | PIKFYVE | c.3449G>A (p.Arg1150Lys) c.3281G>A (p.Arg1094Lys) c.3485G>A (p.Arg1162Lys) c.3482G>A (p.Arg1161Lys) c.3467G>A (p.Arg1156Lys) c.3317G>A (p.Arg1106Lys) c.3314G>A (p.Arg1105Lys) c.3299G>A (p.Arg1100Lys) c.3194G>A (p.Arg1065Lys) c.3191G>A (p.Arg1064Lys) c.3158G>A (p.Arg1053Lys) c.3008G>A (p.Arg1003Lys) c.2492G>A (p.Arg831Lys) n.3622G>A c.3431G>A (p.Arg1144Lys) c.3263G>A (p.Arg1088Lys) c.2990G>A (p.Arg997Lys) c.2840G>A (p.Arg947Lys) | |
2 | g.208326260G>C | CA350115567 | PIKFYVE | c.3449G>C (p.Arg1150Thr) c.3281G>C (p.Arg1094Thr) c.3485G>C (p.Arg1162Thr) c.3482G>C (p.Arg1161Thr) c.3467G>C (p.Arg1156Thr) c.3317G>C (p.Arg1106Thr) c.3314G>C (p.Arg1105Thr) c.3299G>C (p.Arg1100Thr) c.3194G>C (p.Arg1065Thr) c.3191G>C (p.Arg1064Thr) c.3158G>C (p.Arg1053Thr) c.3008G>C (p.Arg1003Thr) c.2492G>C (p.Arg831Thr) n.3622G>C c.3431G>C (p.Arg1144Thr) c.3263G>C (p.Arg1088Thr) c.2990G>C (p.Arg997Thr) c.2840G>C (p.Arg947Thr) | |
2 | g.208326260G>T | CA350115568 | PIKFYVE | c.3449G>T (p.Arg1150Ile) c.3281G>T (p.Arg1094Ile) c.3485G>T (p.Arg1162Ile) c.3482G>T (p.Arg1161Ile) c.3467G>T (p.Arg1156Ile) c.3317G>T (p.Arg1106Ile) c.3314G>T (p.Arg1105Ile) c.3299G>T (p.Arg1100Ile) c.3194G>T (p.Arg1065Ile) c.3191G>T (p.Arg1064Ile) c.3158G>T (p.Arg1053Ile) c.3008G>T (p.Arg1003Ile) c.2492G>T (p.Arg831Ile) n.3622G>T c.3431G>T (p.Arg1144Ile) c.3263G>T (p.Arg1088Ile) c.2990G>T (p.Arg997Ile) c.2840G>T (p.Arg947Ile) | |
2 | g.208326261A>C | CA350115569 | PIKFYVE | c.3450A>C (p.Arg1150Ser) c.3282A>C (p.Arg1094Ser) c.3486A>C (p.Arg1162Ser) c.3483A>C (p.Arg1161Ser) c.3468A>C (p.Arg1156Ser) c.3318A>C (p.Arg1106Ser) c.3315A>C (p.Arg1105Ser) c.3300A>C (p.Arg1100Ser) c.3195A>C (p.Arg1065Ser) c.3192A>C (p.Arg1064Ser) c.3159A>C (p.Arg1053Ser) c.3009A>C (p.Arg1003Ser) c.2493A>C (p.Arg831Ser) n.3623A>C c.3432A>C (p.Arg1144Ser) c.3264A>C (p.Arg1088Ser) c.2991A>C (p.Arg997Ser) c.2841A>C (p.Arg947Ser) | |
2 | g.208326261A>G | CA431117794 | PIKFYVE | c.3450A>G (p.Arg1150=) c.3282A>G (p.Arg1094=) c.3486A>G (p.Arg1162=) c.3483A>G (p.Arg1161=) c.3468A>G (p.Arg1156=) c.3318A>G (p.Arg1106=) c.3315A>G (p.Arg1105=) c.3300A>G (p.Arg1100=) c.3195A>G (p.Arg1065=) c.3192A>G (p.Arg1064=) c.3159A>G (p.Arg1053=) c.3009A>G (p.Arg1003=) c.2493A>G (p.Arg831=) n.3623A>G c.3432A>G (p.Arg1144=) c.3264A>G (p.Arg1088=) c.2991A>G (p.Arg997=) c.2841A>G (p.Arg947=) | |
2 | g.208326261A>T | CA350115570 | PIKFYVE | c.3450A>T (p.Arg1150Ser) c.3282A>T (p.Arg1094Ser) c.3486A>T (p.Arg1162Ser) c.3483A>T (p.Arg1161Ser) c.3468A>T (p.Arg1156Ser) c.3318A>T (p.Arg1106Ser) c.3315A>T (p.Arg1105Ser) c.3300A>T (p.Arg1100Ser) c.3195A>T (p.Arg1065Ser) c.3192A>T (p.Arg1064Ser) c.3159A>T (p.Arg1053Ser) c.3009A>T (p.Arg1003Ser) c.2493A>T (p.Arg831Ser) n.3623A>T c.3432A>T (p.Arg1144Ser) c.3264A>T (p.Arg1088Ser) c.2991A>T (p.Arg997Ser) c.2841A>T (p.Arg947Ser) | |
2 | g.208326262A>C | CA350115571 | PIKFYVE | c.3451A>C (p.Met1151Leu) c.3283A>C (p.Met1095Leu) c.3487A>C (p.Met1163Leu) c.3484A>C (p.Met1162Leu) c.3469A>C (p.Met1157Leu) c.3319A>C (p.Met1107Leu) c.3316A>C (p.Met1106Leu) c.3301A>C (p.Met1101Leu) c.3196A>C (p.Met1066Leu) c.3193A>C (p.Met1065Leu) c.3160A>C (p.Met1054Leu) c.3010A>C (p.Met1004Leu) c.2494A>C (p.Met832Leu) n.3624A>C c.3433A>C (p.Met1145Leu) c.3265A>C (p.Met1089Leu) c.2992A>C (p.Met998Leu) c.2842A>C (p.Met948Leu) | |
2 | g.208326262A>G | CA350115572 | PIKFYVE | c.3451A>G (p.Met1151Val) c.3283A>G (p.Met1095Val) c.3487A>G (p.Met1163Val) c.3484A>G (p.Met1162Val) c.3469A>G (p.Met1157Val) c.3319A>G (p.Met1107Val) c.3316A>G (p.Met1106Val) c.3301A>G (p.Met1101Val) c.3196A>G (p.Met1066Val) c.3193A>G (p.Met1065Val) c.3160A>G (p.Met1054Val) c.3010A>G (p.Met1004Val) c.2494A>G (p.Met832Val) n.3624A>G c.3433A>G (p.Met1145Val) c.3265A>G (p.Met1089Val) c.2992A>G (p.Met998Val) c.2842A>G (p.Met948Val) | |
2 | g.208326262A>T | CA350115573 | PIKFYVE | c.3451A>T (p.Met1151Leu) c.3283A>T (p.Met1095Leu) c.3487A>T (p.Met1163Leu) c.3484A>T (p.Met1162Leu) c.3469A>T (p.Met1157Leu) c.3319A>T (p.Met1107Leu) c.3316A>T (p.Met1106Leu) c.3301A>T (p.Met1101Leu) c.3196A>T (p.Met1066Leu) c.3193A>T (p.Met1065Leu) c.3160A>T (p.Met1054Leu) c.3010A>T (p.Met1004Leu) c.2494A>T (p.Met832Leu) n.3624A>T c.3433A>T (p.Met1145Leu) c.3265A>T (p.Met1089Leu) c.2992A>T (p.Met998Leu) c.2842A>T (p.Met948Leu) | gnomAD v4 |
2 | g.208326263T>A | CA350115574 | PIKFYVE | c.3452T>A (p.Met1151Lys) c.3284T>A (p.Met1095Lys) c.3488T>A (p.Met1163Lys) c.3485T>A (p.Met1162Lys) c.3470T>A (p.Met1157Lys) c.3320T>A (p.Met1107Lys) c.3317T>A (p.Met1106Lys) c.3302T>A (p.Met1101Lys) c.3197T>A (p.Met1066Lys) c.3194T>A (p.Met1065Lys) c.3161T>A (p.Met1054Lys) c.3011T>A (p.Met1004Lys) c.2495T>A (p.Met832Lys) n.3625T>A c.3434T>A (p.Met1145Lys) c.3266T>A (p.Met1089Lys) c.2993T>A (p.Met998Lys) c.2843T>A (p.Met948Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.208326263T>C | CA350115575 | PIKFYVE | c.3452T>C (p.Met1151Thr) c.3284T>C (p.Met1095Thr) c.3488T>C (p.Met1163Thr) c.3485T>C (p.Met1162Thr) c.3470T>C (p.Met1157Thr) c.3320T>C (p.Met1107Thr) c.3317T>C (p.Met1106Thr) c.3302T>C (p.Met1101Thr) c.3197T>C (p.Met1066Thr) c.3194T>C (p.Met1065Thr) c.3161T>C (p.Met1054Thr) c.3011T>C (p.Met1004Thr) c.2495T>C (p.Met832Thr) n.3625T>C c.3434T>C (p.Met1145Thr) c.3266T>C (p.Met1089Thr) c.2993T>C (p.Met998Thr) c.2843T>C (p.Met948Thr) | |
2 | g.208326263T>G | CA350115576 | PIKFYVE | c.3452T>G (p.Met1151Arg) c.3284T>G (p.Met1095Arg) c.3488T>G (p.Met1163Arg) c.3485T>G (p.Met1162Arg) c.3470T>G (p.Met1157Arg) c.3320T>G (p.Met1107Arg) c.3317T>G (p.Met1106Arg) c.3302T>G (p.Met1101Arg) c.3197T>G (p.Met1066Arg) c.3194T>G (p.Met1065Arg) c.3161T>G (p.Met1054Arg) c.3011T>G (p.Met1004Arg) c.2495T>G (p.Met832Arg) n.3625T>G c.3434T>G (p.Met1145Arg) c.3266T>G (p.Met1089Arg) c.2993T>G (p.Met998Arg) c.2843T>G (p.Met948Arg) | |
2 | g.208326263T= | CA1324023438 | PIKFYVE | c.3452T= (p.Met1151=) c.3284T= (p.Met1095=) c.3488T= (p.Met1163=) c.3485T= (p.Met1162=) c.3470T= (p.Met1157=) c.3320T= (p.Met1107=) c.3317T= (p.Met1106=) c.3302T= (p.Met1101=) c.3197T= (p.Met1066=) c.3194T= (p.Met1065=) c.3161T= (p.Met1054=) c.3011T= (p.Met1004=) c.2495T= (p.Met832=) n.3625T= c.3434T= (p.Met1145=) c.3266T= (p.Met1089=) c.2993T= (p.Met998=) c.2843T= (p.Met948=) | |
2 | g.208326264G>A | CA350115577 | PIKFYVE | c.3453G>A (p.Met1151Ile) c.3285G>A (p.Met1095Ile) c.3489G>A (p.Met1163Ile) c.3486G>A (p.Met1162Ile) c.3471G>A (p.Met1157Ile) c.3321G>A (p.Met1107Ile) c.3318G>A (p.Met1106Ile) c.3303G>A (p.Met1101Ile) c.3198G>A (p.Met1066Ile) c.3195G>A (p.Met1065Ile) c.3162G>A (p.Met1054Ile) c.3012G>A (p.Met1004Ile) c.2496G>A (p.Met832Ile) n.3626G>A c.3435G>A (p.Met1145Ile) c.3267G>A (p.Met1089Ile) c.2994G>A (p.Met998Ile) c.2844G>A (p.Met948Ile) | |
2 | g.208326264G>C | CA350115578 | PIKFYVE | c.3453G>C (p.Met1151Ile) c.3285G>C (p.Met1095Ile) c.3489G>C (p.Met1163Ile) c.3486G>C (p.Met1162Ile) c.3471G>C (p.Met1157Ile) c.3321G>C (p.Met1107Ile) c.3318G>C (p.Met1106Ile) c.3303G>C (p.Met1101Ile) c.3198G>C (p.Met1066Ile) c.3195G>C (p.Met1065Ile) c.3162G>C (p.Met1054Ile) c.3012G>C (p.Met1004Ile) c.2496G>C (p.Met832Ile) n.3626G>C c.3435G>C (p.Met1145Ile) c.3267G>C (p.Met1089Ile) c.2994G>C (p.Met998Ile) c.2844G>C (p.Met948Ile) | |
2 | g.208326264G>T | CA350115579 | PIKFYVE | c.3453G>T (p.Met1151Ile) c.3285G>T (p.Met1095Ile) c.3489G>T (p.Met1163Ile) c.3486G>T (p.Met1162Ile) c.3471G>T (p.Met1157Ile) c.3321G>T (p.Met1107Ile) c.3318G>T (p.Met1106Ile) c.3303G>T (p.Met1101Ile) c.3198G>T (p.Met1066Ile) c.3195G>T (p.Met1065Ile) c.3162G>T (p.Met1054Ile) c.3012G>T (p.Met1004Ile) c.2496G>T (p.Met832Ile) n.3626G>T c.3435G>T (p.Met1145Ile) c.3267G>T (p.Met1089Ile) c.2994G>T (p.Met998Ile) c.2844G>T (p.Met948Ile) | |
2 | g.208326265C>A | CA350115580 | PIKFYVE | c.3454C>A (p.Leu1152Met) c.3286C>A (p.Leu1096Met) c.3490C>A (p.Leu1164Met) c.3487C>A (p.Leu1163Met) c.3472C>A (p.Leu1158Met) c.3322C>A (p.Leu1108Met) c.3319C>A (p.Leu1107Met) c.3304C>A (p.Leu1102Met) c.3199C>A (p.Leu1067Met) c.3196C>A (p.Leu1066Met) c.3163C>A (p.Leu1055Met) c.3013C>A (p.Leu1005Met) c.2497C>A (p.Leu833Met) n.3627C>A c.3436C>A (p.Leu1146Met) c.3268C>A (p.Leu1090Met) c.2995C>A (p.Leu999Met) c.2845C>A (p.Leu949Met) | gnomAD v4 |
2 | g.208326265C= | CA1324023439 | PIKFYVE | c.3454C= (p.Leu1152=) c.3286C= (p.Leu1096=) c.3490C= (p.Leu1164=) c.3487C= (p.Leu1163=) c.3472C= (p.Leu1158=) c.3322C= (p.Leu1108=) c.3319C= (p.Leu1107=) c.3304C= (p.Leu1102=) c.3199C= (p.Leu1067=) c.3196C= (p.Leu1066=) c.3163C= (p.Leu1055=) c.3013C= (p.Leu1005=) c.2497C= (p.Leu833=) n.3627C= c.3436C= (p.Leu1146=) c.3268C= (p.Leu1090=) c.2995C= (p.Leu999=) c.2845C= (p.Leu949=) | |
2 | g.208326265C>G | CA350115581 | PIKFYVE | c.3454C>G (p.Leu1152Val) c.3286C>G (p.Leu1096Val) c.3490C>G (p.Leu1164Val) c.3487C>G (p.Leu1163Val) c.3472C>G (p.Leu1158Val) c.3322C>G (p.Leu1108Val) c.3319C>G (p.Leu1107Val) c.3304C>G (p.Leu1102Val) c.3199C>G (p.Leu1067Val) c.3196C>G (p.Leu1066Val) c.3163C>G (p.Leu1055Val) c.3013C>G (p.Leu1005Val) c.2497C>G (p.Leu833Val) n.3627C>G c.3436C>G (p.Leu1146Val) c.3268C>G (p.Leu1090Val) c.2995C>G (p.Leu999Val) c.2845C>G (p.Leu949Val) | |
2 | g.208326265C>T | CA431117802 | PIKFYVE | c.3454C>T (p.Leu1152=) c.3286C>T (p.Leu1096=) c.3490C>T (p.Leu1164=) c.3487C>T (p.Leu1163=) c.3472C>T (p.Leu1158=) c.3322C>T (p.Leu1108=) c.3319C>T (p.Leu1107=) c.3304C>T (p.Leu1102=) c.3199C>T (p.Leu1067=) c.3196C>T (p.Leu1066=) c.3163C>T (p.Leu1055=) c.3013C>T (p.Leu1005=) c.2497C>T (p.Leu833=) n.3627C>T c.3436C>T (p.Leu1146=) c.3268C>T (p.Leu1090=) c.2995C>T (p.Leu999=) c.2845C>T (p.Leu949=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208326266T>A | CA350115583 | PIKFYVE | c.3455T>A (p.Leu1152Gln) c.3287T>A (p.Leu1096Gln) c.3491T>A (p.Leu1164Gln) c.3488T>A (p.Leu1163Gln) c.3473T>A (p.Leu1158Gln) c.3323T>A (p.Leu1108Gln) c.3320T>A (p.Leu1107Gln) c.3305T>A (p.Leu1102Gln) c.3200T>A (p.Leu1067Gln) c.3197T>A (p.Leu1066Gln) c.3164T>A (p.Leu1055Gln) c.3014T>A (p.Leu1005Gln) c.2498T>A (p.Leu833Gln) n.3628T>A c.3437T>A (p.Leu1146Gln) c.3269T>A (p.Leu1090Gln) c.2996T>A (p.Leu999Gln) c.2846T>A (p.Leu949Gln) | |
2 | g.208326266T>C | CA2080038 | PIKFYVE | c.3455T>C (p.Leu1152Pro) c.3287T>C (p.Leu1096Pro) c.3491T>C (p.Leu1164Pro) c.3488T>C (p.Leu1163Pro) c.3473T>C (p.Leu1158Pro) c.3323T>C (p.Leu1108Pro) c.3320T>C (p.Leu1107Pro) c.3305T>C (p.Leu1102Pro) c.3200T>C (p.Leu1067Pro) c.3197T>C (p.Leu1066Pro) c.3164T>C (p.Leu1055Pro) c.3014T>C (p.Leu1005Pro) c.2498T>C (p.Leu833Pro) n.3628T>C c.3437T>C (p.Leu1146Pro) c.3269T>C (p.Leu1090Pro) c.2996T>C (p.Leu999Pro) c.2846T>C (p.Leu949Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208326266T>G | CA350115582 | PIKFYVE | c.3455T>G (p.Leu1152Arg) c.3287T>G (p.Leu1096Arg) c.3491T>G (p.Leu1164Arg) c.3488T>G (p.Leu1163Arg) c.3473T>G (p.Leu1158Arg) c.3323T>G (p.Leu1108Arg) c.3320T>G (p.Leu1107Arg) c.3305T>G (p.Leu1102Arg) c.3200T>G (p.Leu1067Arg) c.3197T>G (p.Leu1066Arg) c.3164T>G (p.Leu1055Arg) c.3014T>G (p.Leu1005Arg) c.2498T>G (p.Leu833Arg) n.3628T>G c.3437T>G (p.Leu1146Arg) c.3269T>G (p.Leu1090Arg) c.2996T>G (p.Leu999Arg) c.2846T>G (p.Leu949Arg) | |
2 | g.208326266T= | CA1324023440 | PIKFYVE | c.3455T= (p.Leu1152=) c.3287T= (p.Leu1096=) c.3491T= (p.Leu1164=) c.3488T= (p.Leu1163=) c.3473T= (p.Leu1158=) c.3323T= (p.Leu1108=) c.3320T= (p.Leu1107=) c.3305T= (p.Leu1102=) c.3200T= (p.Leu1067=) c.3197T= (p.Leu1066=) c.3164T= (p.Leu1055=) c.3014T= (p.Leu1005=) c.2498T= (p.Leu833=) n.3628T= c.3437T= (p.Leu1146=) c.3269T= (p.Leu1090=) c.2996T= (p.Leu999=) c.2846T= (p.Leu949=) | |
2 | g.208326267G>A | CA431117810 | PIKFYVE | c.3456G>A (p.Leu1152=) c.3288G>A (p.Leu1096=) c.3492G>A (p.Leu1164=) c.3489G>A (p.Leu1163=) c.3474G>A (p.Leu1158=) c.3324G>A (p.Leu1108=) c.3321G>A (p.Leu1107=) c.3306G>A (p.Leu1102=) c.3201G>A (p.Leu1067=) c.3198G>A (p.Leu1066=) c.3165G>A (p.Leu1055=) c.3015G>A (p.Leu1005=) c.2499G>A (p.Leu833=) n.3629G>A c.3438G>A (p.Leu1146=) c.3270G>A (p.Leu1090=) c.2997G>A (p.Leu999=) c.2847G>A (p.Leu949=) | |
2 | g.208326267G>C | CA431117813 | PIKFYVE | c.3456G>C (p.Leu1152=) c.3288G>C (p.Leu1096=) c.3492G>C (p.Leu1164=) c.3489G>C (p.Leu1163=) c.3474G>C (p.Leu1158=) c.3324G>C (p.Leu1108=) c.3321G>C (p.Leu1107=) c.3306G>C (p.Leu1102=) c.3201G>C (p.Leu1067=) c.3198G>C (p.Leu1066=) c.3165G>C (p.Leu1055=) c.3015G>C (p.Leu1005=) c.2499G>C (p.Leu833=) n.3629G>C c.3438G>C (p.Leu1146=) c.3270G>C (p.Leu1090=) c.2997G>C (p.Leu999=) c.2847G>C (p.Leu949=) | |
2 | g.208326267G>T | CA431117814 | PIKFYVE | c.3456G>T (p.Leu1152=) c.3288G>T (p.Leu1096=) c.3492G>T (p.Leu1164=) c.3489G>T (p.Leu1163=) c.3474G>T (p.Leu1158=) c.3324G>T (p.Leu1108=) c.3321G>T (p.Leu1107=) c.3306G>T (p.Leu1102=) c.3201G>T (p.Leu1067=) c.3198G>T (p.Leu1066=) c.3165G>T (p.Leu1055=) c.3015G>T (p.Leu1005=) c.2499G>T (p.Leu833=) n.3629G>T c.3438G>T (p.Leu1146=) c.3270G>T (p.Leu1090=) c.2997G>T (p.Leu999=) c.2847G>T (p.Leu949=) | |
2 | g.208326268G>A | CA350115584 | PIKFYVE | c.3457G>A (p.Ala1153Thr) c.3289G>A (p.Ala1097Thr) c.3493G>A (p.Ala1165Thr) c.3490G>A (p.Ala1164Thr) c.3475G>A (p.Ala1159Thr) c.3325G>A (p.Ala1109Thr) c.3322G>A (p.Ala1108Thr) c.3307G>A (p.Ala1103Thr) c.3202G>A (p.Ala1068Thr) c.3199G>A (p.Ala1067Thr) c.3166G>A (p.Ala1056Thr) c.3016G>A (p.Ala1006Thr) c.2500G>A (p.Ala834Thr) n.3630G>A c.3439G>A (p.Ala1147Thr) c.3271G>A (p.Ala1091Thr) c.2998G>A (p.Ala1000Thr) c.2848G>A (p.Ala950Thr) | |
2 | g.208326268G>C | CA350115585 | PIKFYVE | c.3457G>C (p.Ala1153Pro) c.3289G>C (p.Ala1097Pro) c.3493G>C (p.Ala1165Pro) c.3490G>C (p.Ala1164Pro) c.3475G>C (p.Ala1159Pro) c.3325G>C (p.Ala1109Pro) c.3322G>C (p.Ala1108Pro) c.3307G>C (p.Ala1103Pro) c.3202G>C (p.Ala1068Pro) c.3199G>C (p.Ala1067Pro) c.3166G>C (p.Ala1056Pro) c.3016G>C (p.Ala1006Pro) c.2500G>C (p.Ala834Pro) n.3630G>C c.3439G>C (p.Ala1147Pro) c.3271G>C (p.Ala1091Pro) c.2998G>C (p.Ala1000Pro) c.2848G>C (p.Ala950Pro) | |
2 | g.208326268G>T | CA350115586 | PIKFYVE | c.3457G>T (p.Ala1153Ser) c.3289G>T (p.Ala1097Ser) c.3493G>T (p.Ala1165Ser) c.3490G>T (p.Ala1164Ser) c.3475G>T (p.Ala1159Ser) c.3325G>T (p.Ala1109Ser) c.3322G>T (p.Ala1108Ser) c.3307G>T (p.Ala1103Ser) c.3202G>T (p.Ala1068Ser) c.3199G>T (p.Ala1067Ser) c.3166G>T (p.Ala1056Ser) c.3016G>T (p.Ala1006Ser) c.2500G>T (p.Ala834Ser) n.3630G>T c.3439G>T (p.Ala1147Ser) c.3271G>T (p.Ala1091Ser) c.2998G>T (p.Ala1000Ser) c.2848G>T (p.Ala950Ser) | |
2 | g.208326269C>A | CA350115587 | PIKFYVE | c.3458C>A (p.Ala1153Asp) c.3290C>A (p.Ala1097Asp) c.3494C>A (p.Ala1165Asp) c.3491C>A (p.Ala1164Asp) c.3476C>A (p.Ala1159Asp) c.3326C>A (p.Ala1109Asp) c.3323C>A (p.Ala1108Asp) c.3308C>A (p.Ala1103Asp) c.3203C>A (p.Ala1068Asp) c.3200C>A (p.Ala1067Asp) c.3167C>A (p.Ala1056Asp) c.3017C>A (p.Ala1006Asp) c.2501C>A (p.Ala834Asp) n.3631C>A c.3440C>A (p.Ala1147Asp) c.3272C>A (p.Ala1091Asp) c.2999C>A (p.Ala1000Asp) c.2849C>A (p.Ala950Asp) | gnomAD v4 |
2 | g.208326269C>G | CA350115588 | PIKFYVE | c.3458C>G (p.Ala1153Gly) c.3290C>G (p.Ala1097Gly) c.3494C>G (p.Ala1165Gly) c.3491C>G (p.Ala1164Gly) c.3476C>G (p.Ala1159Gly) c.3326C>G (p.Ala1109Gly) c.3323C>G (p.Ala1108Gly) c.3308C>G (p.Ala1103Gly) c.3203C>G (p.Ala1068Gly) c.3200C>G (p.Ala1067Gly) c.3167C>G (p.Ala1056Gly) c.3017C>G (p.Ala1006Gly) c.2501C>G (p.Ala834Gly) n.3631C>G c.3440C>G (p.Ala1147Gly) c.3272C>G (p.Ala1091Gly) c.2999C>G (p.Ala1000Gly) c.2849C>G (p.Ala950Gly) | |
2 | g.208326269C>T | CA350115589 | PIKFYVE | c.3458C>T (p.Ala1153Val) c.3290C>T (p.Ala1097Val) c.3494C>T (p.Ala1165Val) c.3491C>T (p.Ala1164Val) c.3476C>T (p.Ala1159Val) c.3326C>T (p.Ala1109Val) c.3323C>T (p.Ala1108Val) c.3308C>T (p.Ala1103Val) c.3203C>T (p.Ala1068Val) c.3200C>T (p.Ala1067Val) c.3167C>T (p.Ala1056Val) c.3017C>T (p.Ala1006Val) c.2501C>T (p.Ala834Val) n.3631C>T c.3440C>T (p.Ala1147Val) c.3272C>T (p.Ala1091Val) c.2999C>T (p.Ala1000Val) c.2849C>T (p.Ala950Val) | |
2 | g.208326270C>A | CA431117818 | PIKFYVE | c.3459C>A (p.Ala1153=) c.3291C>A (p.Ala1097=) c.3495C>A (p.Ala1165=) c.3492C>A (p.Ala1164=) c.3477C>A (p.Ala1159=) c.3327C>A (p.Ala1109=) c.3324C>A (p.Ala1108=) c.3309C>A (p.Ala1103=) c.3204C>A (p.Ala1068=) c.3201C>A (p.Ala1067=) c.3168C>A (p.Ala1056=) c.3018C>A (p.Ala1006=) c.2502C>A (p.Ala834=) n.3632C>A c.3441C>A (p.Ala1147=) c.3273C>A (p.Ala1091=) c.3000C>A (p.Ala1000=) c.2850C>A (p.Ala950=) | |
2 | g.208326270C= | CA1324023441 | PIKFYVE | c.3459C= (p.Ala1153=) c.3291C= (p.Ala1097=) c.3495C= (p.Ala1165=) c.3492C= (p.Ala1164=) c.3477C= (p.Ala1159=) c.3327C= (p.Ala1109=) c.3324C= (p.Ala1108=) c.3309C= (p.Ala1103=) c.3204C= (p.Ala1068=) c.3201C= (p.Ala1067=) c.3168C= (p.Ala1056=) c.3018C= (p.Ala1006=) c.2502C= (p.Ala834=) n.3632C= c.3441C= (p.Ala1147=) c.3273C= (p.Ala1091=) c.3000C= (p.Ala1000=) c.2850C= (p.Ala950=) | |
2 | g.208326270C>G | CA431117824 | PIKFYVE | c.3459C>G (p.Ala1153=) c.3291C>G (p.Ala1097=) c.3495C>G (p.Ala1165=) c.3492C>G (p.Ala1164=) c.3477C>G (p.Ala1159=) c.3327C>G (p.Ala1109=) c.3324C>G (p.Ala1108=) c.3309C>G (p.Ala1103=) c.3204C>G (p.Ala1068=) c.3201C>G (p.Ala1067=) c.3168C>G (p.Ala1056=) c.3018C>G (p.Ala1006=) c.2502C>G (p.Ala834=) n.3632C>G c.3441C>G (p.Ala1147=) c.3273C>G (p.Ala1091=) c.3000C>G (p.Ala1000=) c.2850C>G (p.Ala950=) | |
2 | g.208326270C>T | CA2080039 | PIKFYVE | c.3459C>T (p.Ala1153=) c.3291C>T (p.Ala1097=) c.3495C>T (p.Ala1165=) c.3492C>T (p.Ala1164=) c.3477C>T (p.Ala1159=) c.3327C>T (p.Ala1109=) c.3324C>T (p.Ala1108=) c.3309C>T (p.Ala1103=) c.3204C>T (p.Ala1068=) c.3201C>T (p.Ala1067=) c.3168C>T (p.Ala1056=) c.3018C>T (p.Ala1006=) c.2502C>T (p.Ala834=) n.3632C>T c.3441C>T (p.Ala1147=) c.3273C>T (p.Ala1091=) c.3000C>T (p.Ala1000=) c.2850C>T (p.Ala950=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.208326271G>A | CA2080040 | PIKFYVE | c.3460G>A (p.Asp1154Asn) c.3292G>A (p.Asp1098Asn) c.3496G>A (p.Asp1166Asn) c.3493G>A (p.Asp1165Asn) c.3478G>A (p.Asp1160Asn) c.3328G>A (p.Asp1110Asn) c.3325G>A (p.Asp1109Asn) c.3310G>A (p.Asp1104Asn) c.3205G>A (p.Asp1069Asn) c.3202G>A (p.Asp1068Asn) c.3169G>A (p.Asp1057Asn) c.3019G>A (p.Asp1007Asn) c.2503G>A (p.Asp835Asn) n.3633G>A c.3442G>A (p.Asp1148Asn) c.3274G>A (p.Asp1092Asn) c.3001G>A (p.Asp1001Asn) c.2851G>A (p.Asp951Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.208326271G>C | CA350115590 | PIKFYVE | c.3460G>C (p.Asp1154His) c.3292G>C (p.Asp1098His) c.3496G>C (p.Asp1166His) c.3493G>C (p.Asp1165His) c.3478G>C (p.Asp1160His) c.3328G>C (p.Asp1110His) c.3325G>C (p.Asp1109His) c.3310G>C (p.Asp1104His) c.3205G>C (p.Asp1069His) c.3202G>C (p.Asp1068His) c.3169G>C (p.Asp1057His) c.3019G>C (p.Asp1007His) c.2503G>C (p.Asp835His) n.3633G>C c.3442G>C (p.Asp1148His) c.3274G>C (p.Asp1092His) c.3001G>C (p.Asp1001His) c.2851G>C (p.Asp951His) | |
2 | g.208326271G= | CA1324023442 | PIKFYVE | c.3460G= (p.Asp1154=) c.3292G= (p.Asp1098=) c.3496G= (p.Asp1166=) c.3493G= (p.Asp1165=) c.3478G= (p.Asp1160=) c.3328G= (p.Asp1110=) c.3325G= (p.Asp1109=) c.3310G= (p.Asp1104=) c.3205G= (p.Asp1069=) c.3202G= (p.Asp1068=) c.3169G= (p.Asp1057=) c.3019G= (p.Asp1007=) c.2503G= (p.Asp835=) n.3633G= c.3442G= (p.Asp1148=) c.3274G= (p.Asp1092=) c.3001G= (p.Asp1001=) c.2851G= (p.Asp951=) | |
2 | g.208326271G>T | CA350115591 | PIKFYVE | c.3460G>T (p.Asp1154Tyr) c.3292G>T (p.Asp1098Tyr) c.3496G>T (p.Asp1166Tyr) c.3493G>T (p.Asp1165Tyr) c.3478G>T (p.Asp1160Tyr) c.3328G>T (p.Asp1110Tyr) c.3325G>T (p.Asp1109Tyr) c.3310G>T (p.Asp1104Tyr) c.3205G>T (p.Asp1069Tyr) c.3202G>T (p.Asp1068Tyr) c.3169G>T (p.Asp1057Tyr) c.3019G>T (p.Asp1007Tyr) c.2503G>T (p.Asp835Tyr) n.3633G>T c.3442G>T (p.Asp1148Tyr) c.3274G>T (p.Asp1092Tyr) c.3001G>T (p.Asp1001Tyr) c.2851G>T (p.Asp951Tyr) | |
2 | g.208326272A>C | CA350115592 | PIKFYVE | c.3461A>C (p.Asp1154Ala) c.3293A>C (p.Asp1098Ala) c.3497A>C (p.Asp1166Ala) c.3494A>C (p.Asp1165Ala) c.3479A>C (p.Asp1160Ala) c.3329A>C (p.Asp1110Ala) c.3326A>C (p.Asp1109Ala) c.3311A>C (p.Asp1104Ala) c.3206A>C (p.Asp1069Ala) c.3203A>C (p.Asp1068Ala) c.3170A>C (p.Asp1057Ala) c.3020A>C (p.Asp1007Ala) c.2504A>C (p.Asp835Ala) n.3634A>C c.3443A>C (p.Asp1148Ala) c.3275A>C (p.Asp1092Ala) c.3002A>C (p.Asp1001Ala) c.2852A>C (p.Asp951Ala) | |
2 | g.208326272A>G | CA350115593 | PIKFYVE | c.3461A>G (p.Asp1154Gly) c.3293A>G (p.Asp1098Gly) c.3497A>G (p.Asp1166Gly) c.3494A>G (p.Asp1165Gly) c.3479A>G (p.Asp1160Gly) c.3329A>G (p.Asp1110Gly) c.3326A>G (p.Asp1109Gly) c.3311A>G (p.Asp1104Gly) c.3206A>G (p.Asp1069Gly) c.3203A>G (p.Asp1068Gly) c.3170A>G (p.Asp1057Gly) c.3020A>G (p.Asp1007Gly) c.2504A>G (p.Asp835Gly) n.3634A>G c.3443A>G (p.Asp1148Gly) c.3275A>G (p.Asp1092Gly) c.3002A>G (p.Asp1001Gly) c.2852A>G (p.Asp951Gly) | gnomAD v4 |
2 | g.208326272A>T | CA350115594 | PIKFYVE | c.3461A>T (p.Asp1154Val) c.3293A>T (p.Asp1098Val) c.3497A>T (p.Asp1166Val) c.3494A>T (p.Asp1165Val) c.3479A>T (p.Asp1160Val) c.3329A>T (p.Asp1110Val) c.3326A>T (p.Asp1109Val) c.3311A>T (p.Asp1104Val) c.3206A>T (p.Asp1069Val) c.3203A>T (p.Asp1068Val) c.3170A>T (p.Asp1057Val) c.3020A>T (p.Asp1007Val) c.2504A>T (p.Asp835Val) n.3634A>T c.3443A>T (p.Asp1148Val) c.3275A>T (p.Asp1092Val) c.3002A>T (p.Asp1001Val) c.2852A>T (p.Asp951Val) | |
2 | g.208326273T>A | CA350115596 | PIKFYVE | c.3462T>A (p.Asp1154Glu) c.3294T>A (p.Asp1098Glu) c.3498T>A (p.Asp1166Glu) c.3495T>A (p.Asp1165Glu) c.3480T>A (p.Asp1160Glu) c.3330T>A (p.Asp1110Glu) c.3327T>A (p.Asp1109Glu) c.3312T>A (p.Asp1104Glu) c.3207T>A (p.Asp1069Glu) c.3204T>A (p.Asp1068Glu) c.3171T>A (p.Asp1057Glu) c.3021T>A (p.Asp1007Glu) c.2505T>A (p.Asp835Glu) n.3635T>A c.3444T>A (p.Asp1148Glu) c.3276T>A (p.Asp1092Glu) c.3003T>A (p.Asp1001Glu) c.2853T>A (p.Asp951Glu) | |
2 | g.208326273T>C | CA431117832 | PIKFYVE | c.3462T>C (p.Asp1154=) c.3294T>C (p.Asp1098=) c.3498T>C (p.Asp1166=) c.3495T>C (p.Asp1165=) c.3480T>C (p.Asp1160=) c.3330T>C (p.Asp1110=) c.3327T>C (p.Asp1109=) c.3312T>C (p.Asp1104=) c.3207T>C (p.Asp1069=) c.3204T>C (p.Asp1068=) c.3171T>C (p.Asp1057=) c.3021T>C (p.Asp1007=) c.2505T>C (p.Asp835=) n.3635T>C c.3444T>C (p.Asp1148=) c.3276T>C (p.Asp1092=) c.3003T>C (p.Asp1001=) c.2853T>C (p.Asp951=) | |
2 | g.208326273T>G | CA350115595 | PIKFYVE | c.3462T>G (p.Asp1154Glu) c.3294T>G (p.Asp1098Glu) c.3498T>G (p.Asp1166Glu) c.3495T>G (p.Asp1165Glu) c.3480T>G (p.Asp1160Glu) c.3330T>G (p.Asp1110Glu) c.3327T>G (p.Asp1109Glu) c.3312T>G (p.Asp1104Glu) c.3207T>G (p.Asp1069Glu) c.3204T>G (p.Asp1068Glu) c.3171T>G (p.Asp1057Glu) c.3021T>G (p.Asp1007Glu) c.2505T>G (p.Asp835Glu) n.3635T>G c.3444T>G (p.Asp1148Glu) c.3276T>G (p.Asp1092Glu) c.3003T>G (p.Asp1001Glu) c.2853T>G (p.Asp951Glu) | |
2 | g.208326274T>A | CA350115597 | PIKFYVE | c.3463T>A (p.Tyr1155Asn) c.3295T>A (p.Tyr1099Asn) c.3499T>A (p.Tyr1167Asn) c.3496T>A (p.Tyr1166Asn) c.3481T>A (p.Tyr1161Asn) c.3331T>A (p.Tyr1111Asn) c.3328T>A (p.Tyr1110Asn) c.3313T>A (p.Tyr1105Asn) c.3208T>A (p.Tyr1070Asn) c.3205T>A (p.Tyr1069Asn) c.3172T>A (p.Tyr1058Asn) c.3022T>A (p.Tyr1008Asn) c.2506T>A (p.Tyr836Asn) n.3636T>A c.3445T>A (p.Tyr1149Asn) c.3277T>A (p.Tyr1093Asn) c.3004T>A (p.Tyr1002Asn) c.2854T>A (p.Tyr952Asn) | |
2 | g.208326274T>C | CA350115598 | PIKFYVE | c.3463T>C (p.Tyr1155His) c.3295T>C (p.Tyr1099His) c.3499T>C (p.Tyr1167His) c.3496T>C (p.Tyr1166His) c.3481T>C (p.Tyr1161His) c.3331T>C (p.Tyr1111His) c.3328T>C (p.Tyr1110His) c.3313T>C (p.Tyr1105His) c.3208T>C (p.Tyr1070His) c.3205T>C (p.Tyr1069His) c.3172T>C (p.Tyr1058His) c.3022T>C (p.Tyr1008His) c.2506T>C (p.Tyr836His) n.3636T>C c.3445T>C (p.Tyr1149His) c.3277T>C (p.Tyr1093His) c.3004T>C (p.Tyr1002His) c.2854T>C (p.Tyr952His) | |
2 | g.208326274T>G | CA350115599 | PIKFYVE | c.3463T>G (p.Tyr1155Asp) c.3295T>G (p.Tyr1099Asp) c.3499T>G (p.Tyr1167Asp) c.3496T>G (p.Tyr1166Asp) c.3481T>G (p.Tyr1161Asp) c.3331T>G (p.Tyr1111Asp) c.3328T>G (p.Tyr1110Asp) c.3313T>G (p.Tyr1105Asp) c.3208T>G (p.Tyr1070Asp) c.3205T>G (p.Tyr1069Asp) c.3172T>G (p.Tyr1058Asp) c.3022T>G (p.Tyr1008Asp) c.2506T>G (p.Tyr836Asp) n.3636T>G c.3445T>G (p.Tyr1149Asp) c.3277T>G (p.Tyr1093Asp) c.3004T>G (p.Tyr1002Asp) c.2854T>G (p.Tyr952Asp) | |
2 | g.208326275A>C | CA350115600 | PIKFYVE | c.3464A>C (p.Tyr1155Ser) c.3296A>C (p.Tyr1099Ser) c.3500A>C (p.Tyr1167Ser) c.3497A>C (p.Tyr1166Ser) c.3482A>C (p.Tyr1161Ser) c.3332A>C (p.Tyr1111Ser) c.3329A>C (p.Tyr1110Ser) c.3314A>C (p.Tyr1105Ser) c.3209A>C (p.Tyr1070Ser) c.3206A>C (p.Tyr1069Ser) c.3173A>C (p.Tyr1058Ser) c.3023A>C (p.Tyr1008Ser) c.2507A>C (p.Tyr836Ser) n.3637A>C c.3446A>C (p.Tyr1149Ser) c.3278A>C (p.Tyr1093Ser) c.3005A>C (p.Tyr1002Ser) c.2855A>C (p.Tyr952Ser) | |
2 | g.208326275A>G | CA350115601 | PIKFYVE | c.3464A>G (p.Tyr1155Cys) c.3296A>G (p.Tyr1099Cys) c.3500A>G (p.Tyr1167Cys) c.3497A>G (p.Tyr1166Cys) c.3482A>G (p.Tyr1161Cys) c.3332A>G (p.Tyr1111Cys) c.3329A>G (p.Tyr1110Cys) c.3314A>G (p.Tyr1105Cys) c.3209A>G (p.Tyr1070Cys) c.3206A>G (p.Tyr1069Cys) c.3173A>G (p.Tyr1058Cys) c.3023A>G (p.Tyr1008Cys) c.2507A>G (p.Tyr836Cys) n.3637A>G c.3446A>G (p.Tyr1149Cys) c.3278A>G (p.Tyr1093Cys) c.3005A>G (p.Tyr1002Cys) c.2855A>G (p.Tyr952Cys) | |
2 | g.208326275A>T | CA350115602 | PIKFYVE | c.3464A>T (p.Tyr1155Phe) c.3296A>T (p.Tyr1099Phe) c.3500A>T (p.Tyr1167Phe) c.3497A>T (p.Tyr1166Phe) c.3482A>T (p.Tyr1161Phe) c.3332A>T (p.Tyr1111Phe) c.3329A>T (p.Tyr1110Phe) c.3314A>T (p.Tyr1105Phe) c.3209A>T (p.Tyr1070Phe) c.3206A>T (p.Tyr1069Phe) c.3173A>T (p.Tyr1058Phe) c.3023A>T (p.Tyr1008Phe) c.2507A>T (p.Tyr836Phe) n.3637A>T c.3446A>T (p.Tyr1149Phe) c.3278A>T (p.Tyr1093Phe) c.3005A>T (p.Tyr1002Phe) c.2855A>T (p.Tyr952Phe) | |
2 | g.208326276T>A | CA350115603 | PIKFYVE | c.3465T>A (p.Tyr1155Ter) c.3297T>A (p.Tyr1099Ter) c.3501T>A (p.Tyr1167Ter) c.3498T>A (p.Tyr1166Ter) c.3483T>A (p.Tyr1161Ter) c.3333T>A (p.Tyr1111Ter) c.3330T>A (p.Tyr1110Ter) c.3315T>A (p.Tyr1105Ter) c.3210T>A (p.Tyr1070Ter) c.3207T>A (p.Tyr1069Ter) c.3174T>A (p.Tyr1058Ter) c.3024T>A (p.Tyr1008Ter) c.2508T>A (p.Tyr836Ter) n.3638T>A c.3447T>A (p.Tyr1149Ter) c.3279T>A (p.Tyr1093Ter) c.3006T>A (p.Tyr1002Ter) c.2856T>A (p.Tyr952Ter) | |
2 | g.208326276T>C | CA431117025 | PIKFYVE | c.3465T>C (p.Tyr1155=) c.3297T>C (p.Tyr1099=) c.3501T>C (p.Tyr1167=) c.3498T>C (p.Tyr1166=) c.3483T>C (p.Tyr1161=) c.3333T>C (p.Tyr1111=) c.3330T>C (p.Tyr1110=) c.3315T>C (p.Tyr1105=) c.3210T>C (p.Tyr1070=) c.3207T>C (p.Tyr1069=) c.3174T>C (p.Tyr1058=) c.3024T>C (p.Tyr1008=) c.2508T>C (p.Tyr836=) n.3638T>C c.3447T>C (p.Tyr1149=) c.3279T>C (p.Tyr1093=) c.3006T>C (p.Tyr1002=) c.2856T>C (p.Tyr952=) | |
2 | g.208326276T>G | CA350115604 | PIKFYVE | c.3465T>G (p.Tyr1155Ter) c.3297T>G (p.Tyr1099Ter) c.3501T>G (p.Tyr1167Ter) c.3498T>G (p.Tyr1166Ter) c.3483T>G (p.Tyr1161Ter) c.3333T>G (p.Tyr1111Ter) c.3330T>G (p.Tyr1110Ter) c.3315T>G (p.Tyr1105Ter) c.3210T>G (p.Tyr1070Ter) c.3207T>G (p.Tyr1069Ter) c.3174T>G (p.Tyr1058Ter) c.3024T>G (p.Tyr1008Ter) c.2508T>G (p.Tyr836Ter) n.3638T>G c.3447T>G (p.Tyr1149Ter) c.3279T>G (p.Tyr1093Ter) c.3006T>G (p.Tyr1002Ter) c.2856T>G (p.Tyr952Ter) | |
2 | g.208326277C>A | CA431117028 | PIKFYVE | c.3466C>A (p.Arg1156=) c.3298C>A (p.Arg1100=) c.3502C>A (p.Arg1168=) c.3499C>A (p.Arg1167=) c.3484C>A (p.Arg1162=) c.3334C>A (p.Arg1112=) c.3331C>A (p.Arg1111=) c.3316C>A (p.Arg1106=) c.3211C>A (p.Arg1071=) c.3208C>A (p.Arg1070=) c.3175C>A (p.Arg1059=) c.3025C>A (p.Arg1009=) c.2509C>A (p.Arg837=) n.3639C>A c.3448C>A (p.Arg1150=) c.3280C>A (p.Arg1094=) c.3007C>A (p.Arg1003=) c.2857C>A (p.Arg953=) | |
2 | g.208326277C= | CA1324023443 | PIKFYVE | c.3466C= (p.Arg1156=) c.3298C= (p.Arg1100=) c.3502C= (p.Arg1168=) c.3499C= (p.Arg1167=) c.3484C= (p.Arg1162=) c.3334C= (p.Arg1112=) c.3331C= (p.Arg1111=) c.3316C= (p.Arg1106=) c.3211C= (p.Arg1071=) c.3208C= (p.Arg1070=) c.3175C= (p.Arg1059=) c.3025C= (p.Arg1009=) c.2509C= (p.Arg837=) n.3639C= c.3448C= (p.Arg1150=) c.3280C= (p.Arg1094=) c.3007C= (p.Arg1003=) c.2857C= (p.Arg953=) | |
2 | g.208326277C>G | CA350115605 | PIKFYVE | c.3466C>G (p.Arg1156Gly) c.3298C>G (p.Arg1100Gly) c.3502C>G (p.Arg1168Gly) c.3499C>G (p.Arg1167Gly) c.3484C>G (p.Arg1162Gly) c.3334C>G (p.Arg1112Gly) c.3331C>G (p.Arg1111Gly) c.3316C>G (p.Arg1106Gly) c.3211C>G (p.Arg1071Gly) c.3208C>G (p.Arg1070Gly) c.3175C>G (p.Arg1059Gly) c.3025C>G (p.Arg1009Gly) c.2509C>G (p.Arg837Gly) n.3639C>G c.3448C>G (p.Arg1150Gly) c.3280C>G (p.Arg1094Gly) c.3007C>G (p.Arg1003Gly) c.2857C>G (p.Arg953Gly) | |
2 | g.208326277C>T | CA64596724 | PIKFYVE | c.3466C>T (p.Arg1156Ter) c.3298C>T (p.Arg1100Ter) c.3502C>T (p.Arg1168Ter) c.3499C>T (p.Arg1167Ter) c.3484C>T (p.Arg1162Ter) c.3334C>T (p.Arg1112Ter) c.3331C>T (p.Arg1111Ter) c.3316C>T (p.Arg1106Ter) c.3211C>T (p.Arg1071Ter) c.3208C>T (p.Arg1070Ter) c.3175C>T (p.Arg1059Ter) c.3025C>T (p.Arg1009Ter) c.2509C>T (p.Arg837Ter) n.3639C>T c.3448C>T (p.Arg1150Ter) c.3280C>T (p.Arg1094Ter) c.3007C>T (p.Arg1003Ter) c.2857C>T (p.Arg953Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.208326278G>A | CA350115606 | PIKFYVE | c.3467G>A (p.Arg1156Gln) c.3299G>A (p.Arg1100Gln) c.3503G>A (p.Arg1168Gln) c.3500G>A (p.Arg1167Gln) c.3485G>A (p.Arg1162Gln) c.3335G>A (p.Arg1112Gln) c.3332G>A (p.Arg1111Gln) c.3317G>A (p.Arg1106Gln) c.3212G>A (p.Arg1071Gln) c.3209G>A (p.Arg1070Gln) c.3176G>A (p.Arg1059Gln) c.3026G>A (p.Arg1009Gln) c.2510G>A (p.Arg837Gln) n.3640G>A c.3449G>A (p.Arg1150Gln) c.3281G>A (p.Arg1094Gln) c.3008G>A (p.Arg1003Gln) c.2858G>A (p.Arg953Gln) | dbSNP gnomAD v2 |
2 | g.208326278G>C | CA350115607 | PIKFYVE | c.3467G>C (p.Arg1156Pro) c.3299G>C (p.Arg1100Pro) c.3503G>C (p.Arg1168Pro) c.3500G>C (p.Arg1167Pro) c.3485G>C (p.Arg1162Pro) c.3335G>C (p.Arg1112Pro) c.3332G>C (p.Arg1111Pro) c.3317G>C (p.Arg1106Pro) c.3212G>C (p.Arg1071Pro) c.3209G>C (p.Arg1070Pro) c.3176G>C (p.Arg1059Pro) c.3026G>C (p.Arg1009Pro) c.2510G>C (p.Arg837Pro) n.3640G>C c.3449G>C (p.Arg1150Pro) c.3281G>C (p.Arg1094Pro) c.3008G>C (p.Arg1003Pro) c.2858G>C (p.Arg953Pro) | |
2 | g.208326278G= | CA1324023444 | PIKFYVE | c.3467G= (p.Arg1156=) c.3299G= (p.Arg1100=) c.3503G= (p.Arg1168=) c.3500G= (p.Arg1167=) c.3485G= (p.Arg1162=) c.3335G= (p.Arg1112=) c.3332G= (p.Arg1111=) c.3317G= (p.Arg1106=) c.3212G= (p.Arg1071=) c.3209G= (p.Arg1070=) c.3176G= (p.Arg1059=) c.3026G= (p.Arg1009=) c.2510G= (p.Arg837=) n.3640G= c.3449G= (p.Arg1150=) c.3281G= (p.Arg1094=) c.3008G= (p.Arg1003=) c.2858G= (p.Arg953=) | |
2 | g.208326278G>T | CA350115608 | PIKFYVE | c.3467G>T (p.Arg1156Leu) c.3299G>T (p.Arg1100Leu) c.3503G>T (p.Arg1168Leu) c.3500G>T (p.Arg1167Leu) c.3485G>T (p.Arg1162Leu) c.3335G>T (p.Arg1112Leu) c.3332G>T (p.Arg1111Leu) c.3317G>T (p.Arg1106Leu) c.3212G>T (p.Arg1071Leu) c.3209G>T (p.Arg1070Leu) c.3176G>T (p.Arg1059Leu) c.3026G>T (p.Arg1009Leu) c.2510G>T (p.Arg837Leu) n.3640G>T c.3449G>T (p.Arg1150Leu) c.3281G>T (p.Arg1094Leu) c.3008G>T (p.Arg1003Leu) c.2858G>T (p.Arg953Leu) | |
2 | g.208326279A>C | CA431117029 | PIKFYVE | c.3468A>C (p.Arg1156=) c.3300A>C (p.Arg1100=) c.3504A>C (p.Arg1168=) c.3501A>C (p.Arg1167=) c.3486A>C (p.Arg1162=) c.3336A>C (p.Arg1112=) c.3333A>C (p.Arg1111=) c.3318A>C (p.Arg1106=) c.3213A>C (p.Arg1071=) c.3210A>C (p.Arg1070=) c.3177A>C (p.Arg1059=) c.3027A>C (p.Arg1009=) c.2511A>C (p.Arg837=) n.3641A>C c.3450A>C (p.Arg1150=) c.3282A>C (p.Arg1094=) c.3009A>C (p.Arg1003=) c.2859A>C (p.Arg953=) | |
2 | g.208326279A>G | CA431117030 | PIKFYVE | c.3468A>G (p.Arg1156=) c.3300A>G (p.Arg1100=) c.3504A>G (p.Arg1168=) c.3501A>G (p.Arg1167=) c.3486A>G (p.Arg1162=) c.3336A>G (p.Arg1112=) c.3333A>G (p.Arg1111=) c.3318A>G (p.Arg1106=) c.3213A>G (p.Arg1071=) c.3210A>G (p.Arg1070=) c.3177A>G (p.Arg1059=) c.3027A>G (p.Arg1009=) c.2511A>G (p.Arg837=) n.3641A>G c.3450A>G (p.Arg1150=) c.3282A>G (p.Arg1094=) c.3009A>G (p.Arg1003=) c.2859A>G (p.Arg953=) | |
2 | g.208326279A>T | CA431117031 | PIKFYVE | c.3468A>T (p.Arg1156=) c.3300A>T (p.Arg1100=) c.3504A>T (p.Arg1168=) c.3501A>T (p.Arg1167=) c.3486A>T (p.Arg1162=) c.3336A>T (p.Arg1112=) c.3333A>T (p.Arg1111=) c.3318A>T (p.Arg1106=) c.3213A>T (p.Arg1071=) c.3210A>T (p.Arg1070=) c.3177A>T (p.Arg1059=) c.3027A>T (p.Arg1009=) c.2511A>T (p.Arg837=) n.3641A>T c.3450A>T (p.Arg1150=) c.3282A>T (p.Arg1094=) c.3009A>T (p.Arg1003=) c.2859A>T (p.Arg953=) | |
2 | g.208326280G>A | CA350115611 | PIKFYVE | c.3469G>A (p.Ala1157Thr) c.3301G>A (p.Ala1101Thr) c.3505G>A (p.Ala1169Thr) c.3502G>A (p.Ala1168Thr) c.3487G>A (p.Ala1163Thr) c.3337G>A (p.Ala1113Thr) c.3334G>A (p.Ala1112Thr) c.3319G>A (p.Ala1107Thr) c.3214G>A (p.Ala1072Thr) c.3211G>A (p.Ala1071Thr) c.3178G>A (p.Ala1060Thr) c.3028G>A (p.Ala1010Thr) c.2512G>A (p.Ala838Thr) n.3642G>A c.3451G>A (p.Ala1151Thr) c.3283G>A (p.Ala1095Thr) c.3010G>A (p.Ala1004Thr) c.2860G>A (p.Ala954Thr) | |
2 | g.208326280G>C | CA350115610 | PIKFYVE | c.3469G>C (p.Ala1157Pro) c.3301G>C (p.Ala1101Pro) c.3505G>C (p.Ala1169Pro) c.3502G>C (p.Ala1168Pro) c.3487G>C (p.Ala1163Pro) c.3337G>C (p.Ala1113Pro) c.3334G>C (p.Ala1112Pro) c.3319G>C (p.Ala1107Pro) c.3214G>C (p.Ala1072Pro) c.3211G>C (p.Ala1071Pro) c.3178G>C (p.Ala1060Pro) c.3028G>C (p.Ala1010Pro) c.2512G>C (p.Ala838Pro) n.3642G>C c.3451G>C (p.Ala1151Pro) c.3283G>C (p.Ala1095Pro) c.3010G>C (p.Ala1004Pro) c.2860G>C (p.Ala954Pro) | |
2 | g.208326280G>T | CA350115609 | PIKFYVE | c.3469G>T (p.Ala1157Ser) c.3301G>T (p.Ala1101Ser) c.3505G>T (p.Ala1169Ser) c.3502G>T (p.Ala1168Ser) c.3487G>T (p.Ala1163Ser) c.3337G>T (p.Ala1113Ser) c.3334G>T (p.Ala1112Ser) c.3319G>T (p.Ala1107Ser) c.3214G>T (p.Ala1072Ser) c.3211G>T (p.Ala1071Ser) c.3178G>T (p.Ala1060Ser) c.3028G>T (p.Ala1010Ser) c.2512G>T (p.Ala838Ser) n.3642G>T c.3451G>T (p.Ala1151Ser) c.3283G>T (p.Ala1095Ser) c.3010G>T (p.Ala1004Ser) c.2860G>T (p.Ala954Ser) | |
2 | g.208326281C>A | CA350115612 | PIKFYVE | c.3470C>A (p.Ala1157Asp) c.3302C>A (p.Ala1101Asp) c.3506C>A (p.Ala1169Asp) c.3503C>A (p.Ala1168Asp) c.3488C>A (p.Ala1163Asp) c.3338C>A (p.Ala1113Asp) c.3335C>A (p.Ala1112Asp) c.3320C>A (p.Ala1107Asp) c.3215C>A (p.Ala1072Asp) c.3212C>A (p.Ala1071Asp) c.3179C>A (p.Ala1060Asp) c.3029C>A (p.Ala1010Asp) c.2513C>A (p.Ala838Asp) n.3643C>A c.3452C>A (p.Ala1151Asp) c.3284C>A (p.Ala1095Asp) c.3011C>A (p.Ala1004Asp) c.2861C>A (p.Ala954Asp) | |
2 | g.208326281C>G | CA350115613 | PIKFYVE | c.3470C>G (p.Ala1157Gly) c.3302C>G (p.Ala1101Gly) c.3506C>G (p.Ala1169Gly) c.3503C>G (p.Ala1168Gly) c.3488C>G (p.Ala1163Gly) c.3338C>G (p.Ala1113Gly) c.3335C>G (p.Ala1112Gly) c.3320C>G (p.Ala1107Gly) c.3215C>G (p.Ala1072Gly) c.3212C>G (p.Ala1071Gly) c.3179C>G (p.Ala1060Gly) c.3029C>G (p.Ala1010Gly) c.2513C>G (p.Ala838Gly) n.3643C>G c.3452C>G (p.Ala1151Gly) c.3284C>G (p.Ala1095Gly) c.3011C>G (p.Ala1004Gly) c.2861C>G (p.Ala954Gly) | |
2 | g.208326281C>T | CA350115614 | PIKFYVE | c.3470C>T (p.Ala1157Val) c.3302C>T (p.Ala1101Val) c.3506C>T (p.Ala1169Val) c.3503C>T (p.Ala1168Val) c.3488C>T (p.Ala1163Val) c.3338C>T (p.Ala1113Val) c.3335C>T (p.Ala1112Val) c.3320C>T (p.Ala1107Val) c.3215C>T (p.Ala1072Val) c.3212C>T (p.Ala1071Val) c.3179C>T (p.Ala1060Val) c.3029C>T (p.Ala1010Val) c.2513C>T (p.Ala838Val) n.3643C>T c.3452C>T (p.Ala1151Val) c.3284C>T (p.Ala1095Val) c.3011C>T (p.Ala1004Val) c.2861C>T (p.Ala954Val) | |
2 | g.208326282C>A | CA431117033 | PIKFYVE | c.3471C>A (p.Ala1157=) c.3303C>A (p.Ala1101=) c.3507C>A (p.Ala1169=) c.3504C>A (p.Ala1168=) c.3489C>A (p.Ala1163=) c.3339C>A (p.Ala1113=) c.3336C>A (p.Ala1112=) c.3321C>A (p.Ala1107=) c.3216C>A (p.Ala1072=) c.3213C>A (p.Ala1071=) c.3180C>A (p.Ala1060=) c.3030C>A (p.Ala1010=) c.2514C>A (p.Ala838=) n.3644C>A c.3453C>A (p.Ala1151=) c.3285C>A (p.Ala1095=) c.3012C>A (p.Ala1004=) c.2862C>A (p.Ala954=) | |
2 | g.208326282C>G | CA431117034 | PIKFYVE | c.3471C>G (p.Ala1157=) c.3303C>G (p.Ala1101=) c.3507C>G (p.Ala1169=) c.3504C>G (p.Ala1168=) c.3489C>G (p.Ala1163=) c.3339C>G (p.Ala1113=) c.3336C>G (p.Ala1112=) c.3321C>G (p.Ala1107=) c.3216C>G (p.Ala1072=) c.3213C>G (p.Ala1071=) c.3180C>G (p.Ala1060=) c.3030C>G (p.Ala1010=) c.2514C>G (p.Ala838=) n.3644C>G c.3453C>G (p.Ala1151=) c.3285C>G (p.Ala1095=) c.3012C>G (p.Ala1004=) c.2862C>G (p.Ala954=) | |
2 | g.208326282C>T | CA431117035 | PIKFYVE | c.3471C>T (p.Ala1157=) c.3303C>T (p.Ala1101=) c.3507C>T (p.Ala1169=) c.3504C>T (p.Ala1168=) c.3489C>T (p.Ala1163=) c.3339C>T (p.Ala1113=) c.3336C>T (p.Ala1112=) c.3321C>T (p.Ala1107=) c.3216C>T (p.Ala1072=) c.3213C>T (p.Ala1071=) c.3180C>T (p.Ala1060=) c.3030C>T (p.Ala1010=) c.2514C>T (p.Ala838=) n.3644C>T c.3453C>T (p.Ala1151=) c.3285C>T (p.Ala1095=) c.3012C>T (p.Ala1004=) c.2862C>T (p.Ala954=) | gnomAD v4 |
2 | g.208326283A>C | CA431117036 | PIKFYVE | c.3472A>C (p.Arg1158=) c.3304A>C (p.Arg1102=) c.3508A>C (p.Arg1170=) c.3505A>C (p.Arg1169=) c.3490A>C (p.Arg1164=) c.3340A>C (p.Arg1114=) c.3337A>C (p.Arg1113=) c.3322A>C (p.Arg1108=) c.3217A>C (p.Arg1073=) c.3214A>C (p.Arg1072=) c.3181A>C (p.Arg1061=) c.3031A>C (p.Arg1011=) c.2515A>C (p.Arg839=) n.3645A>C c.3454A>C (p.Arg1152=) c.3286A>C (p.Arg1096=) c.3013A>C (p.Arg1005=) c.2863A>C (p.Arg955=) | |
2 | g.208326283A>G | CA350115615 | PIKFYVE | c.3472A>G (p.Arg1158Gly) c.3304A>G (p.Arg1102Gly) c.3508A>G (p.Arg1170Gly) c.3505A>G (p.Arg1169Gly) c.3490A>G (p.Arg1164Gly) c.3340A>G (p.Arg1114Gly) c.3337A>G (p.Arg1113Gly) c.3322A>G (p.Arg1108Gly) c.3217A>G (p.Arg1073Gly) c.3214A>G (p.Arg1072Gly) c.3181A>G (p.Arg1061Gly) c.3031A>G (p.Arg1011Gly) c.2515A>G (p.Arg839Gly) n.3645A>G c.3454A>G (p.Arg1152Gly) c.3286A>G (p.Arg1096Gly) c.3013A>G (p.Arg1005Gly) c.2863A>G (p.Arg955Gly) | |
2 | g.208326283A>T | CA350115616 | PIKFYVE | c.3472A>T (p.Arg1158Ter) c.3304A>T (p.Arg1102Ter) c.3508A>T (p.Arg1170Ter) c.3505A>T (p.Arg1169Ter) c.3490A>T (p.Arg1164Ter) c.3340A>T (p.Arg1114Ter) c.3337A>T (p.Arg1113Ter) c.3322A>T (p.Arg1108Ter) c.3217A>T (p.Arg1073Ter) c.3214A>T (p.Arg1072Ter) c.3181A>T (p.Arg1061Ter) c.3031A>T (p.Arg1011Ter) c.2515A>T (p.Arg839Ter) n.3645A>T c.3454A>T (p.Arg1152Ter) c.3286A>T (p.Arg1096Ter) c.3013A>T (p.Arg1005Ter) c.2863A>T (p.Arg955Ter) | |
2 | g.208326284G>A | CA350115619 | PIKFYVE | c.3473G>A (p.Arg1158Lys) c.3305G>A (p.Arg1102Lys) c.3509G>A (p.Arg1170Lys) c.3506G>A (p.Arg1169Lys) c.3491G>A (p.Arg1164Lys) c.3341G>A (p.Arg1114Lys) c.3338G>A (p.Arg1113Lys) c.3323G>A (p.Arg1108Lys) c.3218G>A (p.Arg1073Lys) c.3215G>A (p.Arg1072Lys) c.3182G>A (p.Arg1061Lys) c.3032G>A (p.Arg1011Lys) c.2516G>A (p.Arg839Lys) n.3646G>A c.3455G>A (p.Arg1152Lys) c.3287G>A (p.Arg1096Lys) c.3014G>A (p.Arg1005Lys) c.2864G>A (p.Arg955Lys) | COSMIC |
2 | g.208326284G>C | CA350115618 | PIKFYVE | c.3473G>C (p.Arg1158Thr) c.3305G>C (p.Arg1102Thr) c.3509G>C (p.Arg1170Thr) c.3506G>C (p.Arg1169Thr) c.3491G>C (p.Arg1164Thr) c.3341G>C (p.Arg1114Thr) c.3338G>C (p.Arg1113Thr) c.3323G>C (p.Arg1108Thr) c.3218G>C (p.Arg1073Thr) c.3215G>C (p.Arg1072Thr) c.3182G>C (p.Arg1061Thr) c.3032G>C (p.Arg1011Thr) c.2516G>C (p.Arg839Thr) n.3646G>C c.3455G>C (p.Arg1152Thr) c.3287G>C (p.Arg1096Thr) c.3014G>C (p.Arg1005Thr) c.2864G>C (p.Arg955Thr) | gnomAD v4 |
2 | g.208326284G>T | CA350115617 | PIKFYVE | c.3473G>T (p.Arg1158Ile) c.3305G>T (p.Arg1102Ile) c.3509G>T (p.Arg1170Ile) c.3506G>T (p.Arg1169Ile) c.3491G>T (p.Arg1164Ile) c.3341G>T (p.Arg1114Ile) c.3338G>T (p.Arg1113Ile) c.3323G>T (p.Arg1108Ile) c.3218G>T (p.Arg1073Ile) c.3215G>T (p.Arg1072Ile) c.3182G>T (p.Arg1061Ile) c.3032G>T (p.Arg1011Ile) c.2516G>T (p.Arg839Ile) n.3646G>T c.3455G>T (p.Arg1152Ile) c.3287G>T (p.Arg1096Ile) c.3014G>T (p.Arg1005Ile) c.2864G>T (p.Arg955Ile) | |
2 | g.208326285A= | CA1324023445 | PIKFYVE | c.3474A= (p.Arg1158=) c.3306A= (p.Arg1102=) c.3510A= (p.Arg1170=) c.3507A= (p.Arg1169=) c.3492A= (p.Arg1164=) c.3342A= (p.Arg1114=) c.3339A= (p.Arg1113=) c.3324A= (p.Arg1108=) c.3219A= (p.Arg1073=) c.3216A= (p.Arg1072=) c.3183A= (p.Arg1061=) c.3033A= (p.Arg1011=) c.2517A= (p.Arg839=) n.3647A= c.3456A= (p.Arg1152=) c.3288A= (p.Arg1096=) c.3015A= (p.Arg1005=) c.2865A= (p.Arg955=) | |
2 | g.208326285A>C | CA350115620 | PIKFYVE | c.3474A>C (p.Arg1158Ser) c.3306A>C (p.Arg1102Ser) c.3510A>C (p.Arg1170Ser) c.3507A>C (p.Arg1169Ser) c.3492A>C (p.Arg1164Ser) c.3342A>C (p.Arg1114Ser) c.3339A>C (p.Arg1113Ser) c.3324A>C (p.Arg1108Ser) c.3219A>C (p.Arg1073Ser) c.3216A>C (p.Arg1072Ser) c.3183A>C (p.Arg1061Ser) c.3033A>C (p.Arg1011Ser) c.2517A>C (p.Arg839Ser) n.3647A>C c.3456A>C (p.Arg1152Ser) c.3288A>C (p.Arg1096Ser) c.3015A>C (p.Arg1005Ser) c.2865A>C (p.Arg955Ser) | |
2 | g.208326285A>G | CA64596728 | PIKFYVE | c.3474A>G (p.Arg1158=) c.3306A>G (p.Arg1102=) c.3510A>G (p.Arg1170=) c.3507A>G (p.Arg1169=) c.3492A>G (p.Arg1164=) c.3342A>G (p.Arg1114=) c.3339A>G (p.Arg1113=) c.3324A>G (p.Arg1108=) c.3219A>G (p.Arg1073=) c.3216A>G (p.Arg1072=) c.3183A>G (p.Arg1061=) c.3033A>G (p.Arg1011=) c.2517A>G (p.Arg839=) n.3647A>G c.3456A>G (p.Arg1152=) c.3288A>G (p.Arg1096=) c.3015A>G (p.Arg1005=) c.2865A>G (p.Arg955=) | dbSNP |
2 | g.208326285A>T | CA350115621 | PIKFYVE | c.3474A>T (p.Arg1158Ser) c.3306A>T (p.Arg1102Ser) c.3510A>T (p.Arg1170Ser) c.3507A>T (p.Arg1169Ser) c.3492A>T (p.Arg1164Ser) c.3342A>T (p.Arg1114Ser) c.3339A>T (p.Arg1113Ser) c.3324A>T (p.Arg1108Ser) c.3219A>T (p.Arg1073Ser) c.3216A>T (p.Arg1072Ser) c.3183A>T (p.Arg1061Ser) c.3033A>T (p.Arg1011Ser) c.2517A>T (p.Arg839Ser) n.3647A>T c.3456A>T (p.Arg1152Ser) c.3288A>T (p.Arg1096Ser) c.3015A>T (p.Arg1005Ser) c.2865A>T (p.Arg955Ser) | |
2 | g.208326286G>A | CA2080041 | PIKFYVE | c.3475G>A (p.Gly1159Arg) c.3307G>A (p.Gly1103Arg) c.3511G>A (p.Gly1171Arg) c.3508G>A (p.Gly1170Arg) c.3493G>A (p.Gly1165Arg) c.3343G>A (p.Gly1115Arg) c.3340G>A (p.Gly1114Arg) c.3325G>A (p.Gly1109Arg) c.3220G>A (p.Gly1074Arg) c.3217G>A (p.Gly1073Arg) c.3184G>A (p.Gly1062Arg) c.3034G>A (p.Gly1012Arg) c.2518G>A (p.Gly840Arg) n.3648G>A c.3457G>A (p.Gly1153Arg) c.3289G>A (p.Gly1097Arg) c.3016G>A (p.Gly1006Arg) c.2866G>A (p.Gly956Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208326286G>C | CA350115622 | PIKFYVE | c.3475G>C (p.Gly1159Arg) c.3307G>C (p.Gly1103Arg) c.3511G>C (p.Gly1171Arg) c.3508G>C (p.Gly1170Arg) c.3493G>C (p.Gly1165Arg) c.3343G>C (p.Gly1115Arg) c.3340G>C (p.Gly1114Arg) c.3325G>C (p.Gly1109Arg) c.3220G>C (p.Gly1074Arg) c.3217G>C (p.Gly1073Arg) c.3184G>C (p.Gly1062Arg) c.3034G>C (p.Gly1012Arg) c.2518G>C (p.Gly840Arg) n.3648G>C c.3457G>C (p.Gly1153Arg) c.3289G>C (p.Gly1097Arg) c.3016G>C (p.Gly1006Arg) c.2866G>C (p.Gly956Arg) | |
2 | g.208326286G= | CA1324023446 | PIKFYVE | c.3475G= (p.Gly1159=) c.3307G= (p.Gly1103=) c.3511G= (p.Gly1171=) c.3508G= (p.Gly1170=) c.3493G= (p.Gly1165=) c.3343G= (p.Gly1115=) c.3340G= (p.Gly1114=) c.3325G= (p.Gly1109=) c.3220G= (p.Gly1074=) c.3217G= (p.Gly1073=) c.3184G= (p.Gly1062=) c.3034G= (p.Gly1012=) c.2518G= (p.Gly840=) n.3648G= c.3457G= (p.Gly1153=) c.3289G= (p.Gly1097=) c.3016G= (p.Gly1006=) c.2866G= (p.Gly956=) | |
2 | g.208326286G>T | CA350115623 | PIKFYVE | c.3475G>T (p.Gly1159Ter) c.3307G>T (p.Gly1103Ter) c.3511G>T (p.Gly1171Ter) c.3508G>T (p.Gly1170Ter) c.3493G>T (p.Gly1165Ter) c.3343G>T (p.Gly1115Ter) c.3340G>T (p.Gly1114Ter) c.3325G>T (p.Gly1109Ter) c.3220G>T (p.Gly1074Ter) c.3217G>T (p.Gly1073Ter) c.3184G>T (p.Gly1062Ter) c.3034G>T (p.Gly1012Ter) c.2518G>T (p.Gly840Ter) n.3648G>T c.3457G>T (p.Gly1153Ter) c.3289G>T (p.Gly1097Ter) c.3016G>T (p.Gly1006Ter) c.2866G>T (p.Gly956Ter) | |
2 | g.208326287del | CA2662880190 | PIKFYVE | c.3476del (p.Gly1159GlufsTer?) c.3308del (p.Gly1103GlufsTer?) c.3512del (p.Gly1171GlufsTer?) c.3509del (p.Gly1170GlufsTer?) c.3494del (p.Gly1165GlufsTer?) c.3344del (p.Gly1115GlufsTer?) c.3341del (p.Gly1114GlufsTer?) c.3326del (p.Gly1109GlufsTer?) c.3221del (p.Gly1074GlufsTer?) c.3218del (p.Gly1073GlufsTer?) c.3185del (p.Gly1062GlufsTer?) c.3035del (p.Gly1012GlufsTer?) c.2519del (p.Gly840GlufsTer?) n.3649del c.3458del (p.Gly1153GlufsTer?) c.3290del (p.Gly1097GlufsTer?) c.3017del (p.Gly1006GlufsTer?) c.2867del (p.Gly956GlufsTer?) | gnomAD v4 |
2 | g.208326287G>A | CA350115626 | PIKFYVE | c.3476G>A (p.Gly1159Glu) c.3308G>A (p.Gly1103Glu) c.3512G>A (p.Gly1171Glu) c.3509G>A (p.Gly1170Glu) c.3494G>A (p.Gly1165Glu) c.3344G>A (p.Gly1115Glu) c.3341G>A (p.Gly1114Glu) c.3326G>A (p.Gly1109Glu) c.3221G>A (p.Gly1074Glu) c.3218G>A (p.Gly1073Glu) c.3185G>A (p.Gly1062Glu) c.3035G>A (p.Gly1012Glu) c.2519G>A (p.Gly840Glu) n.3649G>A c.3458G>A (p.Gly1153Glu) c.3290G>A (p.Gly1097Glu) c.3017G>A (p.Gly1006Glu) c.2867G>A (p.Gly956Glu) | |
2 | g.208326287G>C | CA350115624 | PIKFYVE | c.3476G>C (p.Gly1159Ala) c.3308G>C (p.Gly1103Ala) c.3512G>C (p.Gly1171Ala) c.3509G>C (p.Gly1170Ala) c.3494G>C (p.Gly1165Ala) c.3344G>C (p.Gly1115Ala) c.3341G>C (p.Gly1114Ala) c.3326G>C (p.Gly1109Ala) c.3221G>C (p.Gly1074Ala) c.3218G>C (p.Gly1073Ala) c.3185G>C (p.Gly1062Ala) c.3035G>C (p.Gly1012Ala) c.2519G>C (p.Gly840Ala) n.3649G>C c.3458G>C (p.Gly1153Ala) c.3290G>C (p.Gly1097Ala) c.3017G>C (p.Gly1006Ala) c.2867G>C (p.Gly956Ala) | |
2 | g.208326287G>T | CA350115625 | PIKFYVE | c.3476G>T (p.Gly1159Val) c.3308G>T (p.Gly1103Val) c.3512G>T (p.Gly1171Val) c.3509G>T (p.Gly1170Val) c.3494G>T (p.Gly1165Val) c.3344G>T (p.Gly1115Val) c.3341G>T (p.Gly1114Val) c.3326G>T (p.Gly1109Val) c.3221G>T (p.Gly1074Val) c.3218G>T (p.Gly1073Val) c.3185G>T (p.Gly1062Val) c.3035G>T (p.Gly1012Val) c.2519G>T (p.Gly840Val) n.3649G>T c.3458G>T (p.Gly1153Val) c.3290G>T (p.Gly1097Val) c.3017G>T (p.Gly1006Val) c.2867G>T (p.Gly956Val) | |
2 | g.208326288A>C | CA431117038 | PIKFYVE | c.3477A>C (p.Gly1159=) c.3309A>C (p.Gly1103=) c.3513A>C (p.Gly1171=) c.3510A>C (p.Gly1170=) c.3495A>C (p.Gly1165=) c.3345A>C (p.Gly1115=) c.3342A>C (p.Gly1114=) c.3327A>C (p.Gly1109=) c.3222A>C (p.Gly1074=) c.3219A>C (p.Gly1073=) c.3186A>C (p.Gly1062=) c.3036A>C (p.Gly1012=) c.2520A>C (p.Gly840=) n.3650A>C c.3459A>C (p.Gly1153=) c.3291A>C (p.Gly1097=) c.3018A>C (p.Gly1006=) c.2868A>C (p.Gly956=) | |
2 | g.208326288A>G | CA431117039 | PIKFYVE | c.3477A>G (p.Gly1159=) c.3309A>G (p.Gly1103=) c.3513A>G (p.Gly1171=) c.3510A>G (p.Gly1170=) c.3495A>G (p.Gly1165=) c.3345A>G (p.Gly1115=) c.3342A>G (p.Gly1114=) c.3327A>G (p.Gly1109=) c.3222A>G (p.Gly1074=) c.3219A>G (p.Gly1073=) c.3186A>G (p.Gly1062=) c.3036A>G (p.Gly1012=) c.2520A>G (p.Gly840=) n.3650A>G c.3459A>G (p.Gly1153=) c.3291A>G (p.Gly1097=) c.3018A>G (p.Gly1006=) c.2868A>G (p.Gly956=) | |
2 | g.208326288A>T | CA431117040 | PIKFYVE | c.3477A>T (p.Gly1159=) c.3309A>T (p.Gly1103=) c.3513A>T (p.Gly1171=) c.3510A>T (p.Gly1170=) c.3495A>T (p.Gly1165=) c.3345A>T (p.Gly1115=) c.3342A>T (p.Gly1114=) c.3327A>T (p.Gly1109=) c.3222A>T (p.Gly1074=) c.3219A>T (p.Gly1073=) c.3186A>T (p.Gly1062=) c.3036A>T (p.Gly1012=) c.2520A>T (p.Gly840=) n.3650A>T c.3459A>T (p.Gly1153=) c.3291A>T (p.Gly1097=) c.3018A>T (p.Gly1006=) c.2868A>T (p.Gly956=) | |
2 | g.208326289G>A | CA350115627 | PIKFYVE | c.3478G>A (p.Gly1160Arg) c.3310G>A (p.Gly1104Arg) c.3514G>A (p.Gly1172Arg) c.3511G>A (p.Gly1171Arg) c.3496G>A (p.Gly1166Arg) c.3346G>A (p.Gly1116Arg) c.3343G>A (p.Gly1115Arg) c.3328G>A (p.Gly1110Arg) c.3223G>A (p.Gly1075Arg) c.3220G>A (p.Gly1074Arg) c.3187G>A (p.Gly1063Arg) c.3037G>A (p.Gly1013Arg) c.2521G>A (p.Gly841Arg) n.3651G>A c.3460G>A (p.Gly1154Arg) c.3292G>A (p.Gly1098Arg) c.3019G>A (p.Gly1007Arg) c.2869G>A (p.Gly957Arg) | gnomAD v4 |
2 | g.208326289G>C | CA350115628 | PIKFYVE | c.3478G>C (p.Gly1160Arg) c.3310G>C (p.Gly1104Arg) c.3514G>C (p.Gly1172Arg) c.3511G>C (p.Gly1171Arg) c.3496G>C (p.Gly1166Arg) c.3346G>C (p.Gly1116Arg) c.3343G>C (p.Gly1115Arg) c.3328G>C (p.Gly1110Arg) c.3223G>C (p.Gly1075Arg) c.3220G>C (p.Gly1074Arg) c.3187G>C (p.Gly1063Arg) c.3037G>C (p.Gly1013Arg) c.2521G>C (p.Gly841Arg) n.3651G>C c.3460G>C (p.Gly1154Arg) c.3292G>C (p.Gly1098Arg) c.3019G>C (p.Gly1007Arg) c.2869G>C (p.Gly957Arg) | |
2 | g.208326289G>T | CA350115629 | PIKFYVE | c.3478G>T (p.Gly1160Ter) c.3310G>T (p.Gly1104Ter) c.3514G>T (p.Gly1172Ter) c.3511G>T (p.Gly1171Ter) c.3496G>T (p.Gly1166Ter) c.3346G>T (p.Gly1116Ter) c.3343G>T (p.Gly1115Ter) c.3328G>T (p.Gly1110Ter) c.3223G>T (p.Gly1075Ter) c.3220G>T (p.Gly1074Ter) c.3187G>T (p.Gly1063Ter) c.3037G>T (p.Gly1013Ter) c.2521G>T (p.Gly841Ter) n.3651G>T c.3460G>T (p.Gly1154Ter) c.3292G>T (p.Gly1098Ter) c.3019G>T (p.Gly1007Ter) c.2869G>T (p.Gly957Ter) | |
2 | g.208326290G>A | CA350115630 | PIKFYVE | c.3479G>A (p.Gly1160Glu) c.3311G>A (p.Gly1104Glu) c.3515G>A (p.Gly1172Glu) c.3512G>A (p.Gly1171Glu) c.3497G>A (p.Gly1166Glu) c.3347G>A (p.Gly1116Glu) c.3344G>A (p.Gly1115Glu) c.3329G>A (p.Gly1110Glu) c.3224G>A (p.Gly1075Glu) c.3221G>A (p.Gly1074Glu) c.3188G>A (p.Gly1063Glu) c.3038G>A (p.Gly1013Glu) c.2522G>A (p.Gly841Glu) n.3652G>A c.3461G>A (p.Gly1154Glu) c.3293G>A (p.Gly1098Glu) c.3020G>A (p.Gly1007Glu) c.2870G>A (p.Gly957Glu) | |
2 | g.208326290G>C | CA350115631 | PIKFYVE | c.3479G>C (p.Gly1160Ala) c.3311G>C (p.Gly1104Ala) c.3515G>C (p.Gly1172Ala) c.3512G>C (p.Gly1171Ala) c.3497G>C (p.Gly1166Ala) c.3347G>C (p.Gly1116Ala) c.3344G>C (p.Gly1115Ala) c.3329G>C (p.Gly1110Ala) c.3224G>C (p.Gly1075Ala) c.3221G>C (p.Gly1074Ala) c.3188G>C (p.Gly1063Ala) c.3038G>C (p.Gly1013Ala) c.2522G>C (p.Gly841Ala) n.3652G>C c.3461G>C (p.Gly1154Ala) c.3293G>C (p.Gly1098Ala) c.3020G>C (p.Gly1007Ala) c.2870G>C (p.Gly957Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208326290G= | CA1324023447 | PIKFYVE | c.3479G= (p.Gly1160=) c.3311G= (p.Gly1104=) c.3515G= (p.Gly1172=) c.3512G= (p.Gly1171=) c.3497G= (p.Gly1166=) c.3347G= (p.Gly1116=) c.3344G= (p.Gly1115=) c.3329G= (p.Gly1110=) c.3224G= (p.Gly1075=) c.3221G= (p.Gly1074=) c.3188G= (p.Gly1063=) c.3038G= (p.Gly1013=) c.2522G= (p.Gly841=) n.3652G= c.3461G= (p.Gly1154=) c.3293G= (p.Gly1098=) c.3020G= (p.Gly1007=) c.2870G= (p.Gly957=) | |
2 | g.208326290G>T | CA350115632 | PIKFYVE | c.3479G>T (p.Gly1160Val) c.3311G>T (p.Gly1104Val) c.3515G>T (p.Gly1172Val) c.3512G>T (p.Gly1171Val) c.3497G>T (p.Gly1166Val) c.3347G>T (p.Gly1116Val) c.3344G>T (p.Gly1115Val) c.3329G>T (p.Gly1110Val) c.3224G>T (p.Gly1075Val) c.3221G>T (p.Gly1074Val) c.3188G>T (p.Gly1063Val) c.3038G>T (p.Gly1013Val) c.2522G>T (p.Gly841Val) n.3652G>T c.3461G>T (p.Gly1154Val) c.3293G>T (p.Gly1098Val) c.3020G>T (p.Gly1007Val) c.2870G>T (p.Gly957Val) | |
2 | g.208326293_208326295del | CA2662880194 | PIKFYVE | c.3482_3484del (p.Arg1161del) c.3314_3316del (p.Arg1105del) c.3518_3520del (p.Arg1173del) c.3515_3517del (p.Arg1172del) c.3500_3502del (p.Arg1167del) c.3350_3352del (p.Arg1117del) c.3347_3349del (p.Arg1116del) c.3332_3334del (p.Arg1111del) c.3227_3229del (p.Arg1076del) c.3224_3226del (p.Arg1075del) c.3191_3193del (p.Arg1064del) c.3041_3043del (p.Arg1014del) c.2525_2527del (p.Arg842del) n.3655_3657del c.3464_3466del (p.Arg1155del) c.3296_3298del (p.Arg1099del) c.3023_3025del (p.Arg1008del) c.2873_2875del (p.Arg958del) | gnomAD v4 |
2 | g.208326291A>C | CA431117044 | PIKFYVE | c.3480A>C (p.Gly1160=) c.3312A>C (p.Gly1104=) c.3516A>C (p.Gly1172=) c.3513A>C (p.Gly1171=) c.3498A>C (p.Gly1166=) c.3348A>C (p.Gly1116=) c.3345A>C (p.Gly1115=) c.3330A>C (p.Gly1110=) c.3225A>C (p.Gly1075=) c.3222A>C (p.Gly1074=) c.3189A>C (p.Gly1063=) c.3039A>C (p.Gly1013=) c.2523A>C (p.Gly841=) n.3653A>C c.3462A>C (p.Gly1154=) c.3294A>C (p.Gly1098=) c.3021A>C (p.Gly1007=) c.2871A>C (p.Gly957=) | |
2 | g.208326291A>G | CA431117045 | PIKFYVE | c.3480A>G (p.Gly1160=) c.3312A>G (p.Gly1104=) c.3516A>G (p.Gly1172=) c.3513A>G (p.Gly1171=) c.3498A>G (p.Gly1166=) c.3348A>G (p.Gly1116=) c.3345A>G (p.Gly1115=) c.3330A>G (p.Gly1110=) c.3225A>G (p.Gly1075=) c.3222A>G (p.Gly1074=) c.3189A>G (p.Gly1063=) c.3039A>G (p.Gly1013=) c.2523A>G (p.Gly841=) n.3653A>G c.3462A>G (p.Gly1154=) c.3294A>G (p.Gly1098=) c.3021A>G (p.Gly1007=) c.2871A>G (p.Gly957=) | gnomAD v4 |
2 | g.208326291A>T | CA431117047 | PIKFYVE | c.3480A>T (p.Gly1160=) c.3312A>T (p.Gly1104=) c.3516A>T (p.Gly1172=) c.3513A>T (p.Gly1171=) c.3498A>T (p.Gly1166=) c.3348A>T (p.Gly1116=) c.3345A>T (p.Gly1115=) c.3330A>T (p.Gly1110=) c.3225A>T (p.Gly1075=) c.3222A>T (p.Gly1074=) c.3189A>T (p.Gly1063=) c.3039A>T (p.Gly1013=) c.2523A>T (p.Gly841=) n.3653A>T c.3462A>T (p.Gly1154=) c.3294A>T (p.Gly1098=) c.3021A>T (p.Gly1007=) c.2871A>T (p.Gly957=) | |
2 | g.208326292A>C | CA431117048 | PIKFYVE | c.3481A>C (p.Arg1161=) c.3313A>C (p.Arg1105=) c.3517A>C (p.Arg1173=) c.3514A>C (p.Arg1172=) c.3499A>C (p.Arg1167=) c.3349A>C (p.Arg1117=) c.3346A>C (p.Arg1116=) c.3331A>C (p.Arg1111=) c.3226A>C (p.Arg1076=) c.3223A>C (p.Arg1075=) c.3190A>C (p.Arg1064=) c.3040A>C (p.Arg1014=) c.2524A>C (p.Arg842=) n.3654A>C c.3463A>C (p.Arg1155=) c.3295A>C (p.Arg1099=) c.3022A>C (p.Arg1008=) c.2872A>C (p.Arg958=) | |
2 | g.208326292A>G | CA350115633 | PIKFYVE | c.3481A>G (p.Arg1161Gly) c.3313A>G (p.Arg1105Gly) c.3517A>G (p.Arg1173Gly) c.3514A>G (p.Arg1172Gly) c.3499A>G (p.Arg1167Gly) c.3349A>G (p.Arg1117Gly) c.3346A>G (p.Arg1116Gly) c.3331A>G (p.Arg1111Gly) c.3226A>G (p.Arg1076Gly) c.3223A>G (p.Arg1075Gly) c.3190A>G (p.Arg1064Gly) c.3040A>G (p.Arg1014Gly) c.2524A>G (p.Arg842Gly) n.3654A>G c.3463A>G (p.Arg1155Gly) c.3295A>G (p.Arg1099Gly) c.3022A>G (p.Arg1008Gly) c.2872A>G (p.Arg958Gly) | gnomAD v4 |
2 | g.208326292A>T | CA350115634 | PIKFYVE | c.3481A>T (p.Arg1161Ter) c.3313A>T (p.Arg1105Ter) c.3517A>T (p.Arg1173Ter) c.3514A>T (p.Arg1172Ter) c.3499A>T (p.Arg1167Ter) c.3349A>T (p.Arg1117Ter) c.3346A>T (p.Arg1116Ter) c.3331A>T (p.Arg1111Ter) c.3226A>T (p.Arg1076Ter) c.3223A>T (p.Arg1075Ter) c.3190A>T (p.Arg1064Ter) c.3040A>T (p.Arg1014Ter) c.2524A>T (p.Arg842Ter) n.3654A>T c.3463A>T (p.Arg1155Ter) c.3295A>T (p.Arg1099Ter) c.3022A>T (p.Arg1008Ter) c.2872A>T (p.Arg958Ter) | |
2 | g.208326293G>A | CA2080042 | PIKFYVE | c.3482G>A (p.Arg1161Lys) c.3314G>A (p.Arg1105Lys) c.3518G>A (p.Arg1173Lys) c.3515G>A (p.Arg1172Lys) c.3500G>A (p.Arg1167Lys) c.3350G>A (p.Arg1117Lys) c.3347G>A (p.Arg1116Lys) c.3332G>A (p.Arg1111Lys) c.3227G>A (p.Arg1076Lys) c.3224G>A (p.Arg1075Lys) c.3191G>A (p.Arg1064Lys) c.3041G>A (p.Arg1014Lys) c.2525G>A (p.Arg842Lys) n.3655G>A c.3464G>A (p.Arg1155Lys) c.3296G>A (p.Arg1099Lys) c.3023G>A (p.Arg1008Lys) c.2873G>A (p.Arg958Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208326293G>C | CA350115635 | PIKFYVE | c.3482G>C (p.Arg1161Thr) c.3314G>C (p.Arg1105Thr) c.3518G>C (p.Arg1173Thr) c.3515G>C (p.Arg1172Thr) c.3500G>C (p.Arg1167Thr) c.3350G>C (p.Arg1117Thr) c.3347G>C (p.Arg1116Thr) c.3332G>C (p.Arg1111Thr) c.3227G>C (p.Arg1076Thr) c.3224G>C (p.Arg1075Thr) c.3191G>C (p.Arg1064Thr) c.3041G>C (p.Arg1014Thr) c.2525G>C (p.Arg842Thr) n.3655G>C c.3464G>C (p.Arg1155Thr) c.3296G>C (p.Arg1099Thr) c.3023G>C (p.Arg1008Thr) c.2873G>C (p.Arg958Thr) | |
2 | g.208326293G= | CA1324023448 | PIKFYVE | c.3482G= (p.Arg1161=) c.3314G= (p.Arg1105=) c.3518G= (p.Arg1173=) c.3515G= (p.Arg1172=) c.3500G= (p.Arg1167=) c.3350G= (p.Arg1117=) c.3347G= (p.Arg1116=) c.3332G= (p.Arg1111=) c.3227G= (p.Arg1076=) c.3224G= (p.Arg1075=) c.3191G= (p.Arg1064=) c.3041G= (p.Arg1014=) c.2525G= (p.Arg842=) n.3655G= c.3464G= (p.Arg1155=) c.3296G= (p.Arg1099=) c.3023G= (p.Arg1008=) c.2873G= (p.Arg958=) | |
2 | g.208326293G>T | CA350115636 | PIKFYVE | c.3482G>T (p.Arg1161Ile) c.3314G>T (p.Arg1105Ile) c.3518G>T (p.Arg1173Ile) c.3515G>T (p.Arg1172Ile) c.3500G>T (p.Arg1167Ile) c.3350G>T (p.Arg1117Ile) c.3347G>T (p.Arg1116Ile) c.3332G>T (p.Arg1111Ile) c.3227G>T (p.Arg1076Ile) c.3224G>T (p.Arg1075Ile) c.3191G>T (p.Arg1064Ile) c.3041G>T (p.Arg1014Ile) c.2525G>T (p.Arg842Ile) n.3655G>T c.3464G>T (p.Arg1155Ile) c.3296G>T (p.Arg1099Ile) c.3023G>T (p.Arg1008Ile) c.2873G>T (p.Arg958Ile) | COSMIC |
2 | g.208326294A>C | CA350115637 | PIKFYVE | c.3483A>C (p.Arg1161Ser) c.3315A>C (p.Arg1105Ser) c.3519A>C (p.Arg1173Ser) c.3516A>C (p.Arg1172Ser) c.3501A>C (p.Arg1167Ser) c.3351A>C (p.Arg1117Ser) c.3348A>C (p.Arg1116Ser) c.3333A>C (p.Arg1111Ser) c.3228A>C (p.Arg1076Ser) c.3225A>C (p.Arg1075Ser) c.3192A>C (p.Arg1064Ser) c.3042A>C (p.Arg1014Ser) c.2526A>C (p.Arg842Ser) n.3656A>C c.3465A>C (p.Arg1155Ser) c.3297A>C (p.Arg1099Ser) c.3024A>C (p.Arg1008Ser) c.2874A>C (p.Arg958Ser) | |
2 | g.208326294A>G | CA431117051 | PIKFYVE | c.3483A>G (p.Arg1161=) c.3315A>G (p.Arg1105=) c.3519A>G (p.Arg1173=) c.3516A>G (p.Arg1172=) c.3501A>G (p.Arg1167=) c.3351A>G (p.Arg1117=) c.3348A>G (p.Arg1116=) c.3333A>G (p.Arg1111=) c.3228A>G (p.Arg1076=) c.3225A>G (p.Arg1075=) c.3192A>G (p.Arg1064=) c.3042A>G (p.Arg1014=) c.2526A>G (p.Arg842=) n.3656A>G c.3465A>G (p.Arg1155=) c.3297A>G (p.Arg1099=) c.3024A>G (p.Arg1008=) c.2874A>G (p.Arg958=) | |
2 | g.208326294A>T | CA350115638 | PIKFYVE | c.3483A>T (p.Arg1161Ser) c.3315A>T (p.Arg1105Ser) c.3519A>T (p.Arg1173Ser) c.3516A>T (p.Arg1172Ser) c.3501A>T (p.Arg1167Ser) c.3351A>T (p.Arg1117Ser) c.3348A>T (p.Arg1116Ser) c.3333A>T (p.Arg1111Ser) c.3228A>T (p.Arg1076Ser) c.3225A>T (p.Arg1075Ser) c.3192A>T (p.Arg1064Ser) c.3042A>T (p.Arg1014Ser) c.2526A>T (p.Arg842Ser) n.3656A>T c.3465A>T (p.Arg1155Ser) c.3297A>T (p.Arg1099Ser) c.3024A>T (p.Arg1008Ser) c.2874A>T (p.Arg958Ser) | |
2 | g.208326295A>C | CA350115639 | PIKFYVE | c.3484A>C (p.Ile1162Leu) c.3316A>C (p.Ile1106Leu) c.3520A>C (p.Ile1174Leu) c.3517A>C (p.Ile1173Leu) c.3502A>C (p.Ile1168Leu) c.3352A>C (p.Ile1118Leu) c.3349A>C (p.Ile1117Leu) c.3334A>C (p.Ile1112Leu) c.3229A>C (p.Ile1077Leu) c.3226A>C (p.Ile1076Leu) c.3193A>C (p.Ile1065Leu) c.3043A>C (p.Ile1015Leu) c.2527A>C (p.Ile843Leu) n.3657A>C c.3466A>C (p.Ile1156Leu) c.3298A>C (p.Ile1100Leu) c.3025A>C (p.Ile1009Leu) c.2875A>C (p.Ile959Leu) | |
2 | g.208326295A>G | CA350115641 | PIKFYVE | c.3484A>G (p.Ile1162Val) c.3316A>G (p.Ile1106Val) c.3520A>G (p.Ile1174Val) c.3517A>G (p.Ile1173Val) c.3502A>G (p.Ile1168Val) c.3352A>G (p.Ile1118Val) c.3349A>G (p.Ile1117Val) c.3334A>G (p.Ile1112Val) c.3229A>G (p.Ile1077Val) c.3226A>G (p.Ile1076Val) c.3193A>G (p.Ile1065Val) c.3043A>G (p.Ile1015Val) c.2527A>G (p.Ile843Val) n.3657A>G c.3466A>G (p.Ile1156Val) c.3298A>G (p.Ile1100Val) c.3025A>G (p.Ile1009Val) c.2875A>G (p.Ile959Val) | gnomAD v4 |
2 | g.208326295A>T | CA350115640 | PIKFYVE | c.3484A>T (p.Ile1162Phe) c.3316A>T (p.Ile1106Phe) c.3520A>T (p.Ile1174Phe) c.3517A>T (p.Ile1173Phe) c.3502A>T (p.Ile1168Phe) c.3352A>T (p.Ile1118Phe) c.3349A>T (p.Ile1117Phe) c.3334A>T (p.Ile1112Phe) c.3229A>T (p.Ile1077Phe) c.3226A>T (p.Ile1076Phe) c.3193A>T (p.Ile1065Phe) c.3043A>T (p.Ile1015Phe) c.2527A>T (p.Ile843Phe) n.3657A>T c.3466A>T (p.Ile1156Phe) c.3298A>T (p.Ile1100Phe) c.3025A>T (p.Ile1009Phe) c.2875A>T (p.Ile959Phe) | |
2 | g.208326296T>A | CA350115642 | PIKFYVE | c.3485T>A (p.Ile1162Asn) c.3317T>A (p.Ile1106Asn) c.3521T>A (p.Ile1174Asn) c.3518T>A (p.Ile1173Asn) c.3503T>A (p.Ile1168Asn) c.3353T>A (p.Ile1118Asn) c.3350T>A (p.Ile1117Asn) c.3335T>A (p.Ile1112Asn) c.3230T>A (p.Ile1077Asn) c.3227T>A (p.Ile1076Asn) c.3194T>A (p.Ile1065Asn) c.3044T>A (p.Ile1015Asn) c.2528T>A (p.Ile843Asn) n.3658T>A c.3467T>A (p.Ile1156Asn) c.3299T>A (p.Ile1100Asn) c.3026T>A (p.Ile1009Asn) c.2876T>A (p.Ile959Asn) | |
2 | g.208326296T>C | CA350115643 | PIKFYVE | c.3485T>C (p.Ile1162Thr) c.3317T>C (p.Ile1106Thr) c.3521T>C (p.Ile1174Thr) c.3518T>C (p.Ile1173Thr) c.3503T>C (p.Ile1168Thr) c.3353T>C (p.Ile1118Thr) c.3350T>C (p.Ile1117Thr) c.3335T>C (p.Ile1112Thr) c.3230T>C (p.Ile1077Thr) c.3227T>C (p.Ile1076Thr) c.3194T>C (p.Ile1065Thr) c.3044T>C (p.Ile1015Thr) c.2528T>C (p.Ile843Thr) n.3658T>C c.3467T>C (p.Ile1156Thr) c.3299T>C (p.Ile1100Thr) c.3026T>C (p.Ile1009Thr) c.2876T>C (p.Ile959Thr) | gnomAD v4 |
2 | g.208326296T>G | CA350115644 | PIKFYVE | c.3485T>G (p.Ile1162Ser) c.3317T>G (p.Ile1106Ser) c.3521T>G (p.Ile1174Ser) c.3518T>G (p.Ile1173Ser) c.3503T>G (p.Ile1168Ser) c.3353T>G (p.Ile1118Ser) c.3350T>G (p.Ile1117Ser) c.3335T>G (p.Ile1112Ser) c.3230T>G (p.Ile1077Ser) c.3227T>G (p.Ile1076Ser) c.3194T>G (p.Ile1065Ser) c.3044T>G (p.Ile1015Ser) c.2528T>G (p.Ile843Ser) n.3658T>G c.3467T>G (p.Ile1156Ser) c.3299T>G (p.Ile1100Ser) c.3026T>G (p.Ile1009Ser) c.2876T>G (p.Ile959Ser) | |
2 | g.208326297T>A | CA431117053 | PIKFYVE | c.3486T>A (p.Ile1162=) c.3318T>A (p.Ile1106=) c.3522T>A (p.Ile1174=) c.3519T>A (p.Ile1173=) c.3504T>A (p.Ile1168=) c.3354T>A (p.Ile1118=) c.3351T>A (p.Ile1117=) c.3336T>A (p.Ile1112=) c.3231T>A (p.Ile1077=) c.3228T>A (p.Ile1076=) c.3195T>A (p.Ile1065=) c.3045T>A (p.Ile1015=) c.2529T>A (p.Ile843=) n.3659T>A c.3468T>A (p.Ile1156=) c.3300T>A (p.Ile1100=) c.3027T>A (p.Ile1009=) c.2877T>A (p.Ile959=) | |
2 | g.208326297T>C | CA431117054 | PIKFYVE | c.3486T>C (p.Ile1162=) c.3318T>C (p.Ile1106=) c.3522T>C (p.Ile1174=) c.3519T>C (p.Ile1173=) c.3504T>C (p.Ile1168=) c.3354T>C (p.Ile1118=) c.3351T>C (p.Ile1117=) c.3336T>C (p.Ile1112=) c.3231T>C (p.Ile1077=) c.3228T>C (p.Ile1076=) c.3195T>C (p.Ile1065=) c.3045T>C (p.Ile1015=) c.2529T>C (p.Ile843=) n.3659T>C c.3468T>C (p.Ile1156=) c.3300T>C (p.Ile1100=) c.3027T>C (p.Ile1009=) c.2877T>C (p.Ile959=) | |
2 | g.208326297T>G | CA350115645 | PIKFYVE | c.3486T>G (p.Ile1162Met) c.3318T>G (p.Ile1106Met) c.3522T>G (p.Ile1174Met) c.3519T>G (p.Ile1173Met) c.3504T>G (p.Ile1168Met) c.3354T>G (p.Ile1118Met) c.3351T>G (p.Ile1117Met) c.3336T>G (p.Ile1112Met) c.3231T>G (p.Ile1077Met) c.3228T>G (p.Ile1076Met) c.3195T>G (p.Ile1065Met) c.3045T>G (p.Ile1015Met) c.2529T>G (p.Ile843Met) n.3659T>G c.3468T>G (p.Ile1156Met) c.3300T>G (p.Ile1100Met) c.3027T>G (p.Ile1009Met) c.2877T>G (p.Ile959Met) | |
2 | g.208326298C>A | CA350115646 | PIKFYVE | c.3487C>A (p.Gln1163Lys) c.3319C>A (p.Gln1107Lys) c.3523C>A (p.Gln1175Lys) c.3520C>A (p.Gln1174Lys) c.3505C>A (p.Gln1169Lys) c.3355C>A (p.Gln1119Lys) c.3352C>A (p.Gln1118Lys) c.3337C>A (p.Gln1113Lys) c.3232C>A (p.Gln1078Lys) c.3229C>A (p.Gln1077Lys) c.3196C>A (p.Gln1066Lys) c.3046C>A (p.Gln1016Lys) c.2530C>A (p.Gln844Lys) n.3660C>A c.3469C>A (p.Gln1157Lys) c.3301C>A (p.Gln1101Lys) c.3028C>A (p.Gln1010Lys) c.2878C>A (p.Gln960Lys) | |
2 | g.208326298C>G | CA350115647 | PIKFYVE | c.3487C>G (p.Gln1163Glu) c.3319C>G (p.Gln1107Glu) c.3523C>G (p.Gln1175Glu) c.3520C>G (p.Gln1174Glu) c.3505C>G (p.Gln1169Glu) c.3355C>G (p.Gln1119Glu) c.3352C>G (p.Gln1118Glu) c.3337C>G (p.Gln1113Glu) c.3232C>G (p.Gln1078Glu) c.3229C>G (p.Gln1077Glu) c.3196C>G (p.Gln1066Glu) c.3046C>G (p.Gln1016Glu) c.2530C>G (p.Gln844Glu) n.3660C>G c.3469C>G (p.Gln1157Glu) c.3301C>G (p.Gln1101Glu) c.3028C>G (p.Gln1010Glu) c.2878C>G (p.Gln960Glu) | |
2 | g.208326298C>T | CA350115648 | PIKFYVE | c.3487C>T (p.Gln1163Ter) c.3319C>T (p.Gln1107Ter) c.3523C>T (p.Gln1175Ter) c.3520C>T (p.Gln1174Ter) c.3505C>T (p.Gln1169Ter) c.3355C>T (p.Gln1119Ter) c.3352C>T (p.Gln1118Ter) c.3337C>T (p.Gln1113Ter) c.3232C>T (p.Gln1078Ter) c.3229C>T (p.Gln1077Ter) c.3196C>T (p.Gln1066Ter) c.3046C>T (p.Gln1016Ter) c.2530C>T (p.Gln844Ter) n.3660C>T c.3469C>T (p.Gln1157Ter) c.3301C>T (p.Gln1101Ter) c.3028C>T (p.Gln1010Ter) c.2878C>T (p.Gln960Ter) | gnomAD v4 |
2 | g.208326299A>C | CA350115649 | PIKFYVE | c.3488A>C (p.Gln1163Pro) c.3320A>C (p.Gln1107Pro) c.3524A>C (p.Gln1175Pro) c.3521A>C (p.Gln1174Pro) c.3506A>C (p.Gln1169Pro) c.3356A>C (p.Gln1119Pro) c.3353A>C (p.Gln1118Pro) c.3338A>C (p.Gln1113Pro) c.3233A>C (p.Gln1078Pro) c.3230A>C (p.Gln1077Pro) c.3197A>C (p.Gln1066Pro) c.3047A>C (p.Gln1016Pro) c.2531A>C (p.Gln844Pro) n.3661A>C c.3470A>C (p.Gln1157Pro) c.3302A>C (p.Gln1101Pro) c.3029A>C (p.Gln1010Pro) c.2879A>C (p.Gln960Pro) | gnomAD v4 |
2 | g.208326299A>G | CA350115650 | PIKFYVE | c.3488A>G (p.Gln1163Arg) c.3320A>G (p.Gln1107Arg) c.3524A>G (p.Gln1175Arg) c.3521A>G (p.Gln1174Arg) c.3506A>G (p.Gln1169Arg) c.3356A>G (p.Gln1119Arg) c.3353A>G (p.Gln1118Arg) c.3338A>G (p.Gln1113Arg) c.3233A>G (p.Gln1078Arg) c.3230A>G (p.Gln1077Arg) c.3197A>G (p.Gln1066Arg) c.3047A>G (p.Gln1016Arg) c.2531A>G (p.Gln844Arg) n.3661A>G c.3470A>G (p.Gln1157Arg) c.3302A>G (p.Gln1101Arg) c.3029A>G (p.Gln1010Arg) c.2879A>G (p.Gln960Arg) | |
2 | g.208326299A>T | CA350115651 | PIKFYVE | c.3488A>T (p.Gln1163Leu) c.3320A>T (p.Gln1107Leu) c.3524A>T (p.Gln1175Leu) c.3521A>T (p.Gln1174Leu) c.3506A>T (p.Gln1169Leu) c.3356A>T (p.Gln1119Leu) c.3353A>T (p.Gln1118Leu) c.3338A>T (p.Gln1113Leu) c.3233A>T (p.Gln1078Leu) c.3230A>T (p.Gln1077Leu) c.3197A>T (p.Gln1066Leu) c.3047A>T (p.Gln1016Leu) c.2531A>T (p.Gln844Leu) n.3661A>T c.3470A>T (p.Gln1157Leu) c.3302A>T (p.Gln1101Leu) c.3029A>T (p.Gln1010Leu) c.2879A>T (p.Gln960Leu) | |
2 | g.208326300G>A | CA431117056 | PIKFYVE | c.3489G>A (p.Gln1163=) c.3321G>A (p.Gln1107=) c.3525G>A (p.Gln1175=) c.3522G>A (p.Gln1174=) c.3507G>A (p.Gln1169=) c.3357G>A (p.Gln1119=) c.3354G>A (p.Gln1118=) c.3339G>A (p.Gln1113=) c.3234G>A (p.Gln1078=) c.3231G>A (p.Gln1077=) c.3198G>A (p.Gln1066=) c.3048G>A (p.Gln1016=) c.2532G>A (p.Gln844=) n.3662G>A c.3471G>A (p.Gln1157=) c.3303G>A (p.Gln1101=) c.3030G>A (p.Gln1010=) c.2880G>A (p.Gln960=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.208326300G>C | CA2080043 | PIKFYVE | c.3489G>C (p.Gln1163His) c.3321G>C (p.Gln1107His) c.3525G>C (p.Gln1175His) c.3522G>C (p.Gln1174His) c.3507G>C (p.Gln1169His) c.3357G>C (p.Gln1119His) c.3354G>C (p.Gln1118His) c.3339G>C (p.Gln1113His) c.3234G>C (p.Gln1078His) c.3231G>C (p.Gln1077His) c.3198G>C (p.Gln1066His) c.3048G>C (p.Gln1016His) c.2532G>C (p.Gln844His) n.3662G>C c.3471G>C (p.Gln1157His) c.3303G>C (p.Gln1101His) c.3030G>C (p.Gln1010His) c.2880G>C (p.Gln960His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208326300G= | CA1324023449 | PIKFYVE | c.3489G= (p.Gln1163=) c.3321G= (p.Gln1107=) c.3525G= (p.Gln1175=) c.3522G= (p.Gln1174=) c.3507G= (p.Gln1169=) c.3357G= (p.Gln1119=) c.3354G= (p.Gln1118=) c.3339G= (p.Gln1113=) c.3234G= (p.Gln1078=) c.3231G= (p.Gln1077=) c.3198G= (p.Gln1066=) c.3048G= (p.Gln1016=) c.2532G= (p.Gln844=) n.3662G= c.3471G= (p.Gln1157=) c.3303G= (p.Gln1101=) c.3030G= (p.Gln1010=) c.2880G= (p.Gln960=) | |
2 | g.208326300G>T | CA350115652 | PIKFYVE | c.3489G>T (p.Gln1163His) c.3321G>T (p.Gln1107His) c.3525G>T (p.Gln1175His) c.3522G>T (p.Gln1174His) c.3507G>T (p.Gln1169His) c.3357G>T (p.Gln1119His) c.3354G>T (p.Gln1118His) c.3339G>T (p.Gln1113His) c.3234G>T (p.Gln1078His) c.3231G>T (p.Gln1077His) c.3198G>T (p.Gln1066His) c.3048G>T (p.Gln1016His) c.2532G>T (p.Gln844His) n.3662G>T c.3471G>T (p.Gln1157His) c.3303G>T (p.Gln1101His) c.3030G>T (p.Gln1010His) c.2880G>T (p.Gln960His) | |
2 | g.208326301C>A | CA350115655 | PIKFYVE | c.3490C>A (p.Pro1164Thr) c.3322C>A (p.Pro1108Thr) c.3526C>A (p.Pro1176Thr) c.3523C>A (p.Pro1175Thr) c.3508C>A (p.Pro1170Thr) c.3358C>A (p.Pro1120Thr) c.3355C>A (p.Pro1119Thr) c.3340C>A (p.Pro1114Thr) c.3235C>A (p.Pro1079Thr) c.3232C>A (p.Pro1078Thr) c.3199C>A (p.Pro1067Thr) c.3049C>A (p.Pro1017Thr) c.2533C>A (p.Pro845Thr) n.3663C>A c.3472C>A (p.Pro1158Thr) c.3304C>A (p.Pro1102Thr) c.3031C>A (p.Pro1011Thr) c.2881C>A (p.Pro961Thr) | |
2 | g.208326301C>G | CA350115654 | PIKFYVE | c.3490C>G (p.Pro1164Ala) c.3322C>G (p.Pro1108Ala) c.3526C>G (p.Pro1176Ala) c.3523C>G (p.Pro1175Ala) c.3508C>G (p.Pro1170Ala) c.3358C>G (p.Pro1120Ala) c.3355C>G (p.Pro1119Ala) c.3340C>G (p.Pro1114Ala) c.3235C>G (p.Pro1079Ala) c.3232C>G (p.Pro1078Ala) c.3199C>G (p.Pro1067Ala) c.3049C>G (p.Pro1017Ala) c.2533C>G (p.Pro845Ala) n.3663C>G c.3472C>G (p.Pro1158Ala) c.3304C>G (p.Pro1102Ala) c.3031C>G (p.Pro1011Ala) c.2881C>G (p.Pro961Ala) | |
2 | g.208326301C>T | CA350115653 | PIKFYVE | c.3490C>T (p.Pro1164Ser) c.3322C>T (p.Pro1108Ser) c.3526C>T (p.Pro1176Ser) c.3523C>T (p.Pro1175Ser) c.3508C>T (p.Pro1170Ser) c.3358C>T (p.Pro1120Ser) c.3355C>T (p.Pro1119Ser) c.3340C>T (p.Pro1114Ser) c.3235C>T (p.Pro1079Ser) c.3232C>T (p.Pro1078Ser) c.3199C>T (p.Pro1067Ser) c.3049C>T (p.Pro1017Ser) c.2533C>T (p.Pro845Ser) n.3663C>T c.3472C>T (p.Pro1158Ser) c.3304C>T (p.Pro1102Ser) c.3031C>T (p.Pro1011Ser) c.2881C>T (p.Pro961Ser) | |
2 | g.208326303del | CA2701566280 | PIKFYVE | c.3492del (p.Asn1166IlefsTer?) c.3324del (p.Asn1110IlefsTer?) c.3528del (p.Asn1178IlefsTer?) c.3525del (p.Asn1177IlefsTer?) c.3510del (p.Asn1172IlefsTer?) c.3360del (p.Asn1122IlefsTer?) c.3357del (p.Asn1121IlefsTer?) c.3342del (p.Asn1116IlefsTer?) c.3237del (p.Asn1081IlefsTer?) c.3234del (p.Asn1080IlefsTer?) c.3201del (p.Asn1069IlefsTer?) c.3051del (p.Asn1019IlefsTer?) c.2535del (p.Asn847IlefsTer?) n.3665del c.3474del (p.Asn1160IlefsTer?) c.3306del (p.Asn1104IlefsTer?) c.3033del (p.Asn1013IlefsTer?) c.2883del (p.Asn963IlefsTer?) | dbSNP |
2 | g.208326302C>A | CA350115656 | PIKFYVE | c.3491C>A (p.Pro1164His) c.3323C>A (p.Pro1108His) c.3527C>A (p.Pro1176His) c.3524C>A (p.Pro1175His) c.3509C>A (p.Pro1170His) c.3359C>A (p.Pro1120His) c.3356C>A (p.Pro1119His) c.3341C>A (p.Pro1114His) c.3236C>A (p.Pro1079His) c.3233C>A (p.Pro1078His) c.3200C>A (p.Pro1067His) c.3050C>A (p.Pro1017His) c.2534C>A (p.Pro845His) n.3664C>A c.3473C>A (p.Pro1158His) c.3305C>A (p.Pro1102His) c.3032C>A (p.Pro1011His) c.2882C>A (p.Pro961His) | |
2 | g.208326302C>G | CA350115657 | PIKFYVE | c.3491C>G (p.Pro1164Arg) c.3323C>G (p.Pro1108Arg) c.3527C>G (p.Pro1176Arg) c.3524C>G (p.Pro1175Arg) c.3509C>G (p.Pro1170Arg) c.3359C>G (p.Pro1120Arg) c.3356C>G (p.Pro1119Arg) c.3341C>G (p.Pro1114Arg) c.3236C>G (p.Pro1079Arg) c.3233C>G (p.Pro1078Arg) c.3200C>G (p.Pro1067Arg) c.3050C>G (p.Pro1017Arg) c.2534C>G (p.Pro845Arg) n.3664C>G c.3473C>G (p.Pro1158Arg) c.3305C>G (p.Pro1102Arg) c.3032C>G (p.Pro1011Arg) c.2882C>G (p.Pro961Arg) | |
2 | g.208326302C>T | CA350115658 | PIKFYVE | c.3491C>T (p.Pro1164Leu) c.3323C>T (p.Pro1108Leu) c.3527C>T (p.Pro1176Leu) c.3524C>T (p.Pro1175Leu) c.3509C>T (p.Pro1170Leu) c.3359C>T (p.Pro1120Leu) c.3356C>T (p.Pro1119Leu) c.3341C>T (p.Pro1114Leu) c.3236C>T (p.Pro1079Leu) c.3233C>T (p.Pro1078Leu) c.3200C>T (p.Pro1067Leu) c.3050C>T (p.Pro1017Leu) c.2534C>T (p.Pro845Leu) n.3664C>T c.3473C>T (p.Pro1158Leu) c.3305C>T (p.Pro1102Leu) c.3032C>T (p.Pro1011Leu) c.2882C>T (p.Pro961Leu) | gnomAD v4 |
2 | g.208326303C>A | CA431117059 | PIKFYVE | c.3492C>A (p.Pro1164=) c.3324C>A (p.Pro1108=) c.3528C>A (p.Pro1176=) c.3525C>A (p.Pro1175=) c.3510C>A (p.Pro1170=) c.3360C>A (p.Pro1120=) c.3357C>A (p.Pro1119=) c.3342C>A (p.Pro1114=) c.3237C>A (p.Pro1079=) c.3234C>A (p.Pro1078=) c.3201C>A (p.Pro1067=) c.3051C>A (p.Pro1017=) c.2535C>A (p.Pro845=) n.3665C>A c.3474C>A (p.Pro1158=) c.3306C>A (p.Pro1102=) c.3033C>A (p.Pro1011=) c.2883C>A (p.Pro961=) | |
2 | g.208326303C= | CA1324023450 | PIKFYVE | c.3492C= (p.Pro1164=) c.3324C= (p.Pro1108=) c.3528C= (p.Pro1176=) c.3525C= (p.Pro1175=) c.3510C= (p.Pro1170=) c.3360C= (p.Pro1120=) c.3357C= (p.Pro1119=) c.3342C= (p.Pro1114=) c.3237C= (p.Pro1079=) c.3234C= (p.Pro1078=) c.3201C= (p.Pro1067=) c.3051C= (p.Pro1017=) c.2535C= (p.Pro845=) n.3665C= c.3474C= (p.Pro1158=) c.3306C= (p.Pro1102=) c.3033C= (p.Pro1011=) c.2883C= (p.Pro961=) | |
2 | g.208326303C>G | CA2080044 | PIKFYVE | c.3492C>G (p.Pro1164=) c.3324C>G (p.Pro1108=) c.3528C>G (p.Pro1176=) c.3525C>G (p.Pro1175=) c.3510C>G (p.Pro1170=) c.3360C>G (p.Pro1120=) c.3357C>G (p.Pro1119=) c.3342C>G (p.Pro1114=) c.3237C>G (p.Pro1079=) c.3234C>G (p.Pro1078=) c.3201C>G (p.Pro1067=) c.3051C>G (p.Pro1017=) c.2535C>G (p.Pro845=) n.3665C>G c.3474C>G (p.Pro1158=) c.3306C>G (p.Pro1102=) c.3033C>G (p.Pro1011=) c.2883C>G (p.Pro961=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208326303C>T | CA431117057 | PIKFYVE | c.3492C>T (p.Pro1164=) c.3324C>T (p.Pro1108=) c.3528C>T (p.Pro1176=) c.3525C>T (p.Pro1175=) c.3510C>T (p.Pro1170=) c.3360C>T (p.Pro1120=) c.3357C>T (p.Pro1119=) c.3342C>T (p.Pro1114=) c.3237C>T (p.Pro1079=) c.3234C>T (p.Pro1078=) c.3201C>T (p.Pro1067=) c.3051C>T (p.Pro1017=) c.2535C>T (p.Pro845=) n.3665C>T c.3474C>T (p.Pro1158=) c.3306C>T (p.Pro1102=) c.3033C>T (p.Pro1011=) c.2883C>T (p.Pro961=) | |
2 | g.208326304A>C | CA350115659 | PIKFYVE | c.3493A>C (p.Lys1165Gln) c.3325A>C (p.Lys1109Gln) c.3529A>C (p.Lys1177Gln) c.3526A>C (p.Lys1176Gln) c.3511A>C (p.Lys1171Gln) c.3361A>C (p.Lys1121Gln) c.3358A>C (p.Lys1120Gln) c.3343A>C (p.Lys1115Gln) c.3238A>C (p.Lys1080Gln) c.3235A>C (p.Lys1079Gln) c.3202A>C (p.Lys1068Gln) c.3052A>C (p.Lys1018Gln) c.2536A>C (p.Lys846Gln) n.3666A>C c.3475A>C (p.Lys1159Gln) c.3307A>C (p.Lys1103Gln) c.3034A>C (p.Lys1012Gln) c.2884A>C (p.Lys962Gln) | |
2 | g.208326304A>G | CA350115660 | PIKFYVE | c.3493A>G (p.Lys1165Glu) c.3325A>G (p.Lys1109Glu) c.3529A>G (p.Lys1177Glu) c.3526A>G (p.Lys1176Glu) c.3511A>G (p.Lys1171Glu) c.3361A>G (p.Lys1121Glu) c.3358A>G (p.Lys1120Glu) c.3343A>G (p.Lys1115Glu) c.3238A>G (p.Lys1080Glu) c.3235A>G (p.Lys1079Glu) c.3202A>G (p.Lys1068Glu) c.3052A>G (p.Lys1018Glu) c.2536A>G (p.Lys846Glu) n.3666A>G c.3475A>G (p.Lys1159Glu) c.3307A>G (p.Lys1103Glu) c.3034A>G (p.Lys1012Glu) c.2884A>G (p.Lys962Glu) | |
2 | g.208326304A>T | CA350115661 | PIKFYVE | c.3493A>T (p.Lys1165Ter) c.3325A>T (p.Lys1109Ter) c.3529A>T (p.Lys1177Ter) c.3526A>T (p.Lys1176Ter) c.3511A>T (p.Lys1171Ter) c.3361A>T (p.Lys1121Ter) c.3358A>T (p.Lys1120Ter) c.3343A>T (p.Lys1115Ter) c.3238A>T (p.Lys1080Ter) c.3235A>T (p.Lys1079Ter) c.3202A>T (p.Lys1068Ter) c.3052A>T (p.Lys1018Ter) c.2536A>T (p.Lys846Ter) n.3666A>T c.3475A>T (p.Lys1159Ter) c.3307A>T (p.Lys1103Ter) c.3034A>T (p.Lys1012Ter) c.2884A>T (p.Lys962Ter) | |
2 | g.208326305A= | CA1324023451 | PIKFYVE | c.3494A= (p.Lys1165=) c.3326A= (p.Lys1109=) c.3530A= (p.Lys1177=) c.3527A= (p.Lys1176=) c.3512A= (p.Lys1171=) c.3362A= (p.Lys1121=) c.3359A= (p.Lys1120=) c.3344A= (p.Lys1115=) c.3239A= (p.Lys1080=) c.3236A= (p.Lys1079=) c.3203A= (p.Lys1068=) c.3053A= (p.Lys1018=) c.2537A= (p.Lys846=) n.3667A= c.3476A= (p.Lys1159=) c.3308A= (p.Lys1103=) c.3035A= (p.Lys1012=) c.2885A= (p.Lys962=) | |
2 | g.208326305A>C | CA350115662 | PIKFYVE | c.3494A>C (p.Lys1165Thr) c.3326A>C (p.Lys1109Thr) c.3530A>C (p.Lys1177Thr) c.3527A>C (p.Lys1176Thr) c.3512A>C (p.Lys1171Thr) c.3362A>C (p.Lys1121Thr) c.3359A>C (p.Lys1120Thr) c.3344A>C (p.Lys1115Thr) c.3239A>C (p.Lys1080Thr) c.3236A>C (p.Lys1079Thr) c.3203A>C (p.Lys1068Thr) c.3053A>C (p.Lys1018Thr) c.2537A>C (p.Lys846Thr) n.3667A>C c.3476A>C (p.Lys1159Thr) c.3308A>C (p.Lys1103Thr) c.3035A>C (p.Lys1012Thr) c.2885A>C (p.Lys962Thr) | COSMIC |
2 | g.208326305A>G | CA2080045 | PIKFYVE | c.3494A>G (p.Lys1165Arg) c.3326A>G (p.Lys1109Arg) c.3530A>G (p.Lys1177Arg) c.3527A>G (p.Lys1176Arg) c.3512A>G (p.Lys1171Arg) c.3362A>G (p.Lys1121Arg) c.3359A>G (p.Lys1120Arg) c.3344A>G (p.Lys1115Arg) c.3239A>G (p.Lys1080Arg) c.3236A>G (p.Lys1079Arg) c.3203A>G (p.Lys1068Arg) c.3053A>G (p.Lys1018Arg) c.2537A>G (p.Lys846Arg) n.3667A>G c.3476A>G (p.Lys1159Arg) c.3308A>G (p.Lys1103Arg) c.3035A>G (p.Lys1012Arg) c.2885A>G (p.Lys962Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.208326305A>T | CA350115663 | PIKFYVE | c.3494A>T (p.Lys1165Ile) c.3326A>T (p.Lys1109Ile) c.3530A>T (p.Lys1177Ile) c.3527A>T (p.Lys1176Ile) c.3512A>T (p.Lys1171Ile) c.3362A>T (p.Lys1121Ile) c.3359A>T (p.Lys1120Ile) c.3344A>T (p.Lys1115Ile) c.3239A>T (p.Lys1080Ile) c.3236A>T (p.Lys1079Ile) c.3203A>T (p.Lys1068Ile) c.3053A>T (p.Lys1018Ile) c.2537A>T (p.Lys846Ile) n.3667A>T c.3476A>T (p.Lys1159Ile) c.3308A>T (p.Lys1103Ile) c.3035A>T (p.Lys1012Ile) c.2885A>T (p.Lys962Ile) |