Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53241795C>A | CA413148630 | IQSEC2 | c.3163G>T (p.Asp1055Tyr) c.956G>T c.465G>T c.294G>T c.67G>T (p.Asp23Tyr) c.3004G>T (p.Asp1002Tyr) n.1311G>T c.2974G>T (p.Asp992Tyr) c.2389G>T (p.Asp797Tyr) c.3100G>T (p.Asp1034Tyr) c.2326G>T (p.Asp776Tyr) c.2293G>T (p.Asp765Tyr) n.3327G>T c.2506G>T (p.Asp836Tyr) n.3321G>T | |
X | g.53241795C>G | CA413148632 | IQSEC2 | c.3163G>C (p.Asp1055His) c.956G>C c.465G>C c.294G>C c.67G>C (p.Asp23His) c.3004G>C (p.Asp1002His) n.1311G>C c.2974G>C (p.Asp992His) c.2389G>C (p.Asp797His) c.3100G>C (p.Asp1034His) c.2326G>C (p.Asp776His) c.2293G>C (p.Asp765His) n.3327G>C c.2506G>C (p.Asp836His) n.3321G>C | |
X | g.53241795C>T | CA413148637 | IQSEC2 | c.3163G>A (p.Asp1055Asn) c.956G>A c.465G>A c.294G>A c.67G>A (p.Asp23Asn) c.3004G>A (p.Asp1002Asn) n.1311G>A c.2974G>A (p.Asp992Asn) c.2389G>A (p.Asp797Asn) c.3100G>A (p.Asp1034Asn) c.2326G>A (p.Asp776Asn) c.2293G>A (p.Asp765Asn) n.3327G>A c.2506G>A (p.Asp836Asn) n.3321G>A | |
X | g.53241796A>C | CA413148643 | IQSEC2 | c.3162T>G (p.Asn1054Lys) c.955T>G c.464T>G c.293T>G c.66T>G (p.Asn22Lys) c.3003T>G (p.Asn1001Lys) n.1310T>G c.2973T>G (p.Asn991Lys) c.2388T>G (p.Asn796Lys) c.3099T>G (p.Asn1033Lys) c.2325T>G (p.Asn775Lys) c.2292T>G (p.Asn764Lys) n.3326T>G c.2505T>G (p.Asn835Lys) n.3320T>G | |
X | g.53241796A>G | CA516424584 | IQSEC2 | c.3162T>C (p.Asn1054=) c.955T>C c.464T>C c.293T>C c.66T>C (p.Asn22=) c.3003T>C (p.Asn1001=) n.1310T>C c.2973T>C (p.Asn991=) c.2388T>C (p.Asn796=) c.3099T>C (p.Asn1033=) c.2325T>C (p.Asn775=) c.2292T>C (p.Asn764=) n.3326T>C c.2505T>C (p.Asn835=) n.3320T>C | ClinVar dbSNP |
X | g.53241796A>T | CA413148647 | IQSEC2 | c.3162T>A (p.Asn1054Lys) c.955T>A c.464T>A c.293T>A c.66T>A (p.Asn22Lys) c.3003T>A (p.Asn1001Lys) n.1310T>A c.2973T>A (p.Asn991Lys) c.2388T>A (p.Asn796Lys) c.3099T>A (p.Asn1033Lys) c.2325T>A (p.Asn775Lys) c.2292T>A (p.Asn764Lys) n.3326T>A c.2505T>A (p.Asn835Lys) n.3320T>A | COSMIC COSMIC COSMIC |
X | g.53241797T>A | CA413148656 | IQSEC2 | c.3161A>T (p.Asn1054Ile) c.954A>T c.463A>T c.292A>T c.65A>T (p.Asn22Ile) c.3002A>T (p.Asn1001Ile) n.1309A>T c.2972A>T (p.Asn991Ile) c.2387A>T (p.Asn796Ile) c.3098A>T (p.Asn1033Ile) c.2324A>T (p.Asn775Ile) c.2291A>T (p.Asn764Ile) n.3325A>T c.2504A>T (p.Asn835Ile) n.3319A>T | |
X | g.53241797T>C | CA413148660 | IQSEC2 | c.3161A>G (p.Asn1054Ser) c.954A>G c.463A>G c.292A>G c.65A>G (p.Asn22Ser) c.3002A>G (p.Asn1001Ser) n.1309A>G c.2972A>G (p.Asn991Ser) c.2387A>G (p.Asn796Ser) c.3098A>G (p.Asn1033Ser) c.2324A>G (p.Asn775Ser) c.2291A>G (p.Asn764Ser) n.3325A>G c.2504A>G (p.Asn835Ser) n.3319A>G | ClinVar gnomAD v4 |
X | g.53241797T>G | CA413148663 | IQSEC2 | c.3161A>C (p.Asn1054Thr) c.954A>C c.463A>C c.292A>C c.65A>C (p.Asn22Thr) c.3002A>C (p.Asn1001Thr) n.1309A>C c.2972A>C (p.Asn991Thr) c.2387A>C (p.Asn796Thr) c.3098A>C (p.Asn1033Thr) c.2324A>C (p.Asn775Thr) c.2291A>C (p.Asn764Thr) n.3325A>C c.2504A>C (p.Asn835Thr) n.3319A>C | |
X | g.53241798T>A | CA413148697 | IQSEC2 | c.3160A>T (p.Asn1054Tyr) c.953A>T c.462A>T c.291A>T c.64A>T (p.Asn22Tyr) c.3001A>T (p.Asn1001Tyr) n.1308A>T c.2971A>T (p.Asn991Tyr) c.2386A>T (p.Asn796Tyr) c.3097A>T (p.Asn1033Tyr) c.2323A>T (p.Asn775Tyr) c.2290A>T (p.Asn764Tyr) n.3324A>T c.2503A>T (p.Asn835Tyr) n.3318A>T | |
X | g.53241798T>C | CA413148695 | IQSEC2 | c.3160A>G (p.Asn1054Asp) c.953A>G c.462A>G c.291A>G c.64A>G (p.Asn22Asp) c.3001A>G (p.Asn1001Asp) n.1308A>G c.2971A>G (p.Asn991Asp) c.2386A>G (p.Asn796Asp) c.3097A>G (p.Asn1033Asp) c.2323A>G (p.Asn775Asp) c.2290A>G (p.Asn764Asp) n.3324A>G c.2503A>G (p.Asn835Asp) n.3318A>G | |
X | g.53241798T>G | CA413148690 | IQSEC2 | c.3160A>C (p.Asn1054His) c.953A>C c.462A>C c.291A>C c.64A>C (p.Asn22His) c.3001A>C (p.Asn1001His) n.1308A>C c.2971A>C (p.Asn991His) c.2386A>C (p.Asn796His) c.3097A>C (p.Asn1033His) c.2323A>C (p.Asn775His) c.2290A>C (p.Asn764His) n.3324A>C c.2503A>C (p.Asn835His) n.3318A>C | |
X | g.53241799G>A | CA516424597 | IQSEC2 | c.3159C>T (p.Phe1053=) c.952C>T c.461C>T c.290C>T c.63C>T (p.Phe21=) c.3000C>T (p.Phe1000=) n.1307C>T c.2970C>T (p.Phe990=) c.2385C>T (p.Phe795=) c.3096C>T (p.Phe1032=) c.2322C>T (p.Phe774=) c.2289C>T (p.Phe763=) n.3323C>T c.2502C>T (p.Phe834=) n.3317C>T | |
X | g.53241799G>C | CA413148707 | IQSEC2 | c.3159C>G (p.Phe1053Leu) c.952C>G c.461C>G c.290C>G c.63C>G (p.Phe21Leu) c.3000C>G (p.Phe1000Leu) n.1307C>G c.2970C>G (p.Phe990Leu) c.2385C>G (p.Phe795Leu) c.3096C>G (p.Phe1032Leu) c.2322C>G (p.Phe774Leu) c.2289C>G (p.Phe763Leu) n.3323C>G c.2502C>G (p.Phe834Leu) n.3317C>G | |
X | g.53241799G>T | CA413148710 | IQSEC2 | c.3159C>A (p.Phe1053Leu) c.952C>A c.461C>A c.290C>A c.63C>A (p.Phe21Leu) c.3000C>A (p.Phe1000Leu) n.1307C>A c.2970C>A (p.Phe990Leu) c.2385C>A (p.Phe795Leu) c.3096C>A (p.Phe1032Leu) c.2322C>A (p.Phe774Leu) c.2289C>A (p.Phe763Leu) n.3323C>A c.2502C>A (p.Phe834Leu) n.3317C>A | |
X | g.53241800A>C | CA413148717 | IQSEC2 | c.3158T>G (p.Phe1053Cys) c.951T>G c.460T>G c.289T>G c.62T>G (p.Phe21Cys) c.2999T>G (p.Phe1000Cys) n.1306T>G c.2969T>G (p.Phe990Cys) c.2384T>G (p.Phe795Cys) c.3095T>G (p.Phe1032Cys) c.2321T>G (p.Phe774Cys) c.2288T>G (p.Phe763Cys) n.3322T>G c.2501T>G (p.Phe834Cys) n.3316T>G | |
X | g.53241800A>G | CA413148721 | IQSEC2 | c.3158T>C (p.Phe1053Ser) c.951T>C c.460T>C c.289T>C c.62T>C (p.Phe21Ser) c.2999T>C (p.Phe1000Ser) n.1306T>C c.2969T>C (p.Phe990Ser) c.2384T>C (p.Phe795Ser) c.3095T>C (p.Phe1032Ser) c.2321T>C (p.Phe774Ser) c.2288T>C (p.Phe763Ser) n.3322T>C c.2501T>C (p.Phe834Ser) n.3316T>C | |
X | g.53241800A>T | CA413148725 | IQSEC2 | c.3158T>A (p.Phe1053Tyr) c.951T>A c.460T>A c.289T>A c.62T>A (p.Phe21Tyr) c.2999T>A (p.Phe1000Tyr) n.1306T>A c.2969T>A (p.Phe990Tyr) c.2384T>A (p.Phe795Tyr) c.3095T>A (p.Phe1032Tyr) c.2321T>A (p.Phe774Tyr) c.2288T>A (p.Phe763Tyr) n.3322T>A c.2501T>A (p.Phe834Tyr) n.3316T>A | |
X | g.53241801A>C | CA413148729 | IQSEC2 | c.3157T>G (p.Phe1053Val) c.950T>G c.459T>G c.288T>G c.61T>G (p.Phe21Val) c.2998T>G (p.Phe1000Val) n.1305T>G c.2968T>G (p.Phe990Val) c.2383T>G (p.Phe795Val) c.3094T>G (p.Phe1032Val) c.2320T>G (p.Phe774Val) c.2287T>G (p.Phe763Val) n.3321T>G c.2500T>G (p.Phe834Val) n.3315T>G | |
X | g.53241801A>G | CA413148733 | IQSEC2 | c.3157T>C (p.Phe1053Leu) c.950T>C c.459T>C c.288T>C c.61T>C (p.Phe21Leu) c.2998T>C (p.Phe1000Leu) n.1305T>C c.2968T>C (p.Phe990Leu) c.2383T>C (p.Phe795Leu) c.3094T>C (p.Phe1032Leu) c.2320T>C (p.Phe774Leu) c.2287T>C (p.Phe763Leu) n.3321T>C c.2500T>C (p.Phe834Leu) n.3315T>C | |
X | g.53241801A>T | CA413148749 | IQSEC2 | c.3157T>A (p.Phe1053Ile) c.950T>A c.459T>A c.288T>A c.61T>A (p.Phe21Ile) c.2998T>A (p.Phe1000Ile) n.1305T>A c.2968T>A (p.Phe990Ile) c.2383T>A (p.Phe795Ile) c.3094T>A (p.Phe1032Ile) c.2320T>A (p.Phe774Ile) c.2287T>A (p.Phe763Ile) n.3321T>A c.2500T>A (p.Phe834Ile) n.3315T>A | |
X | g.53241802G>A | CA516424615 | IQSEC2 | c.3156C>T (p.Leu1052=) c.949C>T c.458C>T c.287C>T c.60C>T (p.Leu20=) c.2997C>T (p.Leu999=) n.1304C>T c.2967C>T (p.Leu989=) c.2382C>T (p.Leu794=) c.3093C>T (p.Leu1031=) c.2319C>T (p.Leu773=) c.2286C>T (p.Leu762=) n.3320C>T c.2499C>T (p.Leu833=) n.3314C>T | |
X | g.53241802G>C | CA516424617 | IQSEC2 | c.3156C>G (p.Leu1052=) c.949C>G c.458C>G c.287C>G c.60C>G (p.Leu20=) c.2997C>G (p.Leu999=) n.1304C>G c.2967C>G (p.Leu989=) c.2382C>G (p.Leu794=) c.3093C>G (p.Leu1031=) c.2319C>G (p.Leu773=) c.2286C>G (p.Leu762=) n.3320C>G c.2499C>G (p.Leu833=) n.3314C>G | |
X | g.53241802G>T | CA516424621 | IQSEC2 | c.3156C>A (p.Leu1052=) c.949C>A c.458C>A c.287C>A c.60C>A (p.Leu20=) c.2997C>A (p.Leu999=) n.1304C>A c.2967C>A (p.Leu989=) c.2382C>A (p.Leu794=) c.3093C>A (p.Leu1031=) c.2319C>A (p.Leu773=) c.2286C>A (p.Leu762=) n.3320C>A c.2499C>A (p.Leu833=) n.3314C>A | |
X | g.53241803A>C | CA413148761 | IQSEC2 | c.3155T>G (p.Leu1052Arg) c.948T>G c.457T>G c.286T>G c.59T>G (p.Leu20Arg) c.2996T>G (p.Leu999Arg) n.1303T>G c.2966T>G (p.Leu989Arg) c.2381T>G (p.Leu794Arg) c.3092T>G (p.Leu1031Arg) c.2318T>G (p.Leu773Arg) c.2285T>G (p.Leu762Arg) n.3319T>G c.2498T>G (p.Leu833Arg) n.3313T>G | |
X | g.53241803A>G | CA413148766 | IQSEC2 | c.3155T>C (p.Leu1052Pro) c.948T>C c.457T>C c.286T>C c.59T>C (p.Leu20Pro) c.2996T>C (p.Leu999Pro) n.1303T>C c.2966T>C (p.Leu989Pro) c.2381T>C (p.Leu794Pro) c.3092T>C (p.Leu1031Pro) c.2318T>C (p.Leu773Pro) c.2285T>C (p.Leu762Pro) n.3319T>C c.2498T>C (p.Leu833Pro) n.3313T>C | |
X | g.53241803A>T | CA413148770 | IQSEC2 | c.3155T>A (p.Leu1052His) c.948T>A c.457T>A c.286T>A c.59T>A (p.Leu20His) c.2996T>A (p.Leu999His) n.1303T>A c.2966T>A (p.Leu989His) c.2381T>A (p.Leu794His) c.3092T>A (p.Leu1031His) c.2318T>A (p.Leu773His) c.2285T>A (p.Leu762His) n.3319T>A c.2498T>A (p.Leu833His) n.3313T>A | |
X | g.53241804G>A | CA413148779 | IQSEC2 | c.3154C>T (p.Leu1052Phe) c.947C>T c.456C>T c.285C>T c.58C>T (p.Leu20Phe) c.2995C>T (p.Leu999Phe) n.1302C>T c.2965C>T (p.Leu989Phe) c.2380C>T (p.Leu794Phe) c.3091C>T (p.Leu1031Phe) c.2317C>T (p.Leu773Phe) c.2284C>T (p.Leu762Phe) n.3318C>T c.2497C>T (p.Leu833Phe) n.3312C>T | ClinVar dbSNP |
X | g.53241804G>C | CA413148783 | IQSEC2 | c.3154C>G (p.Leu1052Val) c.947C>G c.456C>G c.285C>G c.58C>G (p.Leu20Val) c.2995C>G (p.Leu999Val) n.1302C>G c.2965C>G (p.Leu989Val) c.2380C>G (p.Leu794Val) c.3091C>G (p.Leu1031Val) c.2317C>G (p.Leu773Val) c.2284C>G (p.Leu762Val) n.3318C>G c.2497C>G (p.Leu833Val) n.3312C>G | |
X | g.53241804G= | CA2429772805 | IQSEC2 | c.3154C= (p.Leu1052=) c.947C= c.456C= c.285C= c.58C= (p.Leu20=) c.2995C= (p.Leu999=) n.1302C= c.2965C= (p.Leu989=) c.2380C= (p.Leu794=) c.3091C= (p.Leu1031=) c.2317C= (p.Leu773=) c.2284C= (p.Leu762=) n.3318C= c.2497C= (p.Leu833=) n.3312C= | |
X | g.53241804G>T | CA413148793 | IQSEC2 | c.3154C>A (p.Leu1052Ile) c.947C>A c.456C>A c.285C>A c.58C>A (p.Leu20Ile) c.2995C>A (p.Leu999Ile) n.1302C>A c.2965C>A (p.Leu989Ile) c.2380C>A (p.Leu794Ile) c.3091C>A (p.Leu1031Ile) c.2317C>A (p.Leu773Ile) c.2284C>A (p.Leu762Ile) n.3318C>A c.2497C>A (p.Leu833Ile) n.3312C>A | |
X | g.53241805G>A | CA516424628 | IQSEC2 | c.3153C>T (p.Phe1051=) c.946C>T c.455C>T c.284C>T c.57C>T (p.Phe19=) c.2994C>T (p.Phe998=) n.1301C>T c.2964C>T (p.Phe988=) c.2379C>T (p.Phe793=) c.3090C>T (p.Phe1030=) c.2316C>T (p.Phe772=) c.2283C>T (p.Phe761=) n.3317C>T c.2496C>T (p.Phe832=) n.3311C>T | |
X | g.53241805G>C | CA413148797 | IQSEC2 | c.3153C>G (p.Phe1051Leu) c.946C>G c.455C>G c.284C>G c.57C>G (p.Phe19Leu) c.2994C>G (p.Phe998Leu) n.1301C>G c.2964C>G (p.Phe988Leu) c.2379C>G (p.Phe793Leu) c.3090C>G (p.Phe1030Leu) c.2316C>G (p.Phe772Leu) c.2283C>G (p.Phe761Leu) n.3317C>G c.2496C>G (p.Phe832Leu) n.3311C>G | |
X | g.53241805G>T | CA413148798 | IQSEC2 | c.3153C>A (p.Phe1051Leu) c.946C>A c.455C>A c.284C>A c.57C>A (p.Phe19Leu) c.2994C>A (p.Phe998Leu) n.1301C>A c.2964C>A (p.Phe988Leu) c.2379C>A (p.Phe793Leu) c.3090C>A (p.Phe1030Leu) c.2316C>A (p.Phe772Leu) c.2283C>A (p.Phe761Leu) n.3317C>A c.2496C>A (p.Phe832Leu) n.3311C>A | |
X | g.53241806A>C | CA413148802 | IQSEC2 | c.3152T>G (p.Phe1051Cys) c.945T>G c.454T>G c.283T>G c.56T>G (p.Phe19Cys) c.2993T>G (p.Phe998Cys) n.1300T>G c.2963T>G (p.Phe988Cys) c.2378T>G (p.Phe793Cys) c.3089T>G (p.Phe1030Cys) c.2315T>G (p.Phe772Cys) c.2282T>G (p.Phe761Cys) n.3316T>G c.2495T>G (p.Phe832Cys) n.3310T>G | |
X | g.53241806A>G | CA413148819 | IQSEC2 | c.3152T>C (p.Phe1051Ser) c.945T>C c.454T>C c.283T>C c.56T>C (p.Phe19Ser) c.2993T>C (p.Phe998Ser) n.1300T>C c.2963T>C (p.Phe988Ser) c.2378T>C (p.Phe793Ser) c.3089T>C (p.Phe1030Ser) c.2315T>C (p.Phe772Ser) c.2282T>C (p.Phe761Ser) n.3316T>C c.2495T>C (p.Phe832Ser) n.3310T>C | |
X | g.53241806A>T | CA413148824 | IQSEC2 | c.3152T>A (p.Phe1051Tyr) c.945T>A c.454T>A c.283T>A c.56T>A (p.Phe19Tyr) c.2993T>A (p.Phe998Tyr) n.1300T>A c.2963T>A (p.Phe988Tyr) c.2378T>A (p.Phe793Tyr) c.3089T>A (p.Phe1030Tyr) c.2315T>A (p.Phe772Tyr) c.2282T>A (p.Phe761Tyr) n.3316T>A c.2495T>A (p.Phe832Tyr) n.3310T>A | |
X | g.53241807A>C | CA413148827 | IQSEC2 | c.3151T>G (p.Phe1051Val) c.944T>G c.453T>G c.282T>G c.55T>G (p.Phe19Val) c.2992T>G (p.Phe998Val) n.1299T>G c.2962T>G (p.Phe988Val) c.2377T>G (p.Phe793Val) c.3088T>G (p.Phe1030Val) c.2314T>G (p.Phe772Val) c.2281T>G (p.Phe761Val) n.3315T>G c.2494T>G (p.Phe832Val) n.3309T>G | |
X | g.53241807A>G | CA413148829 | IQSEC2 | c.3151T>C (p.Phe1051Leu) c.944T>C c.453T>C c.282T>C c.55T>C (p.Phe19Leu) c.2992T>C (p.Phe998Leu) n.1299T>C c.2962T>C (p.Phe988Leu) c.2377T>C (p.Phe793Leu) c.3088T>C (p.Phe1030Leu) c.2314T>C (p.Phe772Leu) c.2281T>C (p.Phe761Leu) n.3315T>C c.2494T>C (p.Phe832Leu) n.3309T>C | |
X | g.53241807A>T | CA413148833 | IQSEC2 | c.3151T>A (p.Phe1051Ile) c.944T>A c.453T>A c.282T>A c.55T>A (p.Phe19Ile) c.2992T>A (p.Phe998Ile) n.1299T>A c.2962T>A (p.Phe988Ile) c.2377T>A (p.Phe793Ile) c.3088T>A (p.Phe1030Ile) c.2314T>A (p.Phe772Ile) c.2281T>A (p.Phe761Ile) n.3315T>A c.2494T>A (p.Phe832Ile) n.3309T>A | |
X | g.53241808G>A | CA516424652 | IQSEC2 | c.3150C>T (p.Val1050=) c.943C>T c.452C>T c.281C>T c.54C>T (p.Val18=) c.2991C>T (p.Val997=) n.1298C>T c.2961C>T (p.Val987=) c.2376C>T (p.Val792=) c.3087C>T (p.Val1029=) c.2313C>T (p.Val771=) c.2280C>T (p.Val760=) n.3314C>T c.2493C>T (p.Val831=) n.3308C>T | ClinVar dbSNP |
X | g.53241808G>C | CA516424654 | IQSEC2 | c.3150C>G (p.Val1050=) c.943C>G c.452C>G c.281C>G c.54C>G (p.Val18=) c.2991C>G (p.Val997=) n.1298C>G c.2961C>G (p.Val987=) c.2376C>G (p.Val792=) c.3087C>G (p.Val1029=) c.2313C>G (p.Val771=) c.2280C>G (p.Val760=) n.3314C>G c.2493C>G (p.Val831=) n.3308C>G | |
X | g.53241808G>T | CA516424656 | IQSEC2 | c.3150C>A (p.Val1050=) c.943C>A c.452C>A c.281C>A c.54C>A (p.Val18=) c.2991C>A (p.Val997=) n.1298C>A c.2961C>A (p.Val987=) c.2376C>A (p.Val792=) c.3087C>A (p.Val1029=) c.2313C>A (p.Val771=) c.2280C>A (p.Val760=) n.3314C>A c.2493C>A (p.Val831=) n.3308C>A | |
X | g.53241809A>C | CA413148842 | IQSEC2 | c.3149T>G (p.Val1050Gly) c.942T>G c.451T>G c.280T>G c.53T>G (p.Val18Gly) c.2990T>G (p.Val997Gly) n.1297T>G c.2960T>G (p.Val987Gly) c.2375T>G (p.Val792Gly) c.3086T>G (p.Val1029Gly) c.2312T>G (p.Val771Gly) c.2279T>G (p.Val760Gly) n.3313T>G c.2492T>G (p.Val831Gly) n.3307T>G | ClinVar dbSNP |
X | g.53241809A>G | CA413148857 | IQSEC2 | c.3149T>C (p.Val1050Ala) c.942T>C c.451T>C c.280T>C c.53T>C (p.Val18Ala) c.2990T>C (p.Val997Ala) n.1297T>C c.2960T>C (p.Val987Ala) c.2375T>C (p.Val792Ala) c.3086T>C (p.Val1029Ala) c.2312T>C (p.Val771Ala) c.2279T>C (p.Val760Ala) n.3313T>C c.2492T>C (p.Val831Ala) n.3307T>C | |
X | g.53241809A>T | CA413148859 | IQSEC2 | c.3149T>A (p.Val1050Asp) c.942T>A c.451T>A c.280T>A c.53T>A (p.Val18Asp) c.2990T>A (p.Val997Asp) n.1297T>A c.2960T>A (p.Val987Asp) c.2375T>A (p.Val792Asp) c.3086T>A (p.Val1029Asp) c.2312T>A (p.Val771Asp) c.2279T>A (p.Val760Asp) n.3313T>A c.2492T>A (p.Val831Asp) n.3307T>A | |
X | g.53241810C>A | CA413148865 | IQSEC2 | c.3148G>T (p.Val1050Phe) c.941G>T c.450G>T c.279G>T c.52G>T (p.Val18Phe) c.2989G>T (p.Val997Phe) n.1296G>T c.2959G>T (p.Val987Phe) c.2374G>T (p.Val792Phe) c.3085G>T (p.Val1029Phe) c.2311G>T (p.Val771Phe) c.2278G>T (p.Val760Phe) n.3312G>T c.2491G>T (p.Val831Phe) n.3306G>T | |
X | g.53241810C= | CA2429772806 | IQSEC2 | c.3148G= (p.Val1050=) c.941G= c.450G= c.279G= c.52G= (p.Val18=) c.2989G= (p.Val997=) n.1296G= c.2959G= (p.Val987=) c.2374G= (p.Val792=) c.3085G= (p.Val1029=) c.2311G= (p.Val771=) c.2278G= (p.Val760=) n.3312G= c.2491G= (p.Val831=) n.3306G= | |
X | g.53241810C>G | CA413148872 | IQSEC2 | c.3148G>C (p.Val1050Leu) c.941G>C c.450G>C c.279G>C c.52G>C (p.Val18Leu) c.2989G>C (p.Val997Leu) n.1296G>C c.2959G>C (p.Val987Leu) c.2374G>C (p.Val792Leu) c.3085G>C (p.Val1029Leu) c.2311G>C (p.Val771Leu) c.2278G>C (p.Val760Leu) n.3312G>C c.2491G>C (p.Val831Leu) n.3306G>C | |
X | g.53241810C>T | CA413148882 | IQSEC2 | c.3148G>A (p.Val1050Ile) c.941G>A c.450G>A c.279G>A c.52G>A (p.Val18Ile) c.2989G>A (p.Val997Ile) n.1296G>A c.2959G>A (p.Val987Ile) c.2374G>A (p.Val792Ile) c.3085G>A (p.Val1029Ile) c.2311G>A (p.Val771Ile) c.2278G>A (p.Val760Ile) n.3312G>A c.2491G>A (p.Val831Ile) n.3306G>A | dbSNP gnomAD v4 |
X | g.53241811C>A | CA413148887 | IQSEC2 | c.3147G>T (p.Glu1049Asp) c.940G>T c.449G>T c.278G>T c.51G>T (p.Glu17Asp) c.2988G>T (p.Glu996Asp) n.1295G>T c.2958G>T (p.Glu986Asp) c.2373G>T (p.Glu791Asp) c.3084G>T (p.Glu1028Asp) c.2310G>T (p.Glu770Asp) c.2277G>T (p.Glu759Asp) n.3311G>T c.2490G>T (p.Glu830Asp) n.3305G>T | |
X | g.53241811C>G | CA413148893 | IQSEC2 | c.3147G>C (p.Glu1049Asp) c.940G>C c.449G>C c.278G>C c.51G>C (p.Glu17Asp) c.2988G>C (p.Glu996Asp) n.1295G>C c.2958G>C (p.Glu986Asp) c.2373G>C (p.Glu791Asp) c.3084G>C (p.Glu1028Asp) c.2310G>C (p.Glu770Asp) c.2277G>C (p.Glu759Asp) n.3311G>C c.2490G>C (p.Glu830Asp) n.3305G>C | |
X | g.53241811C>T | CA516424663 | IQSEC2 | c.3147G>A (p.Glu1049=) c.940G>A c.449G>A c.278G>A c.51G>A (p.Glu17=) c.2988G>A (p.Glu996=) n.1295G>A c.2958G>A (p.Glu986=) c.2373G>A (p.Glu791=) c.3084G>A (p.Glu1028=) c.2310G>A (p.Glu770=) c.2277G>A (p.Glu759=) n.3311G>A c.2490G>A (p.Glu830=) n.3305G>A | |
X | g.53241812T>A | CA413148899 | IQSEC2 | c.3146A>T (p.Glu1049Val) c.939A>T c.448A>T c.277A>T c.50A>T (p.Glu17Val) c.2987A>T (p.Glu996Val) n.1294A>T c.2957A>T (p.Glu986Val) c.2372A>T (p.Glu791Val) c.3083A>T (p.Glu1028Val) c.2309A>T (p.Glu770Val) c.2276A>T (p.Glu759Val) n.3310A>T c.2489A>T (p.Glu830Val) n.3304A>T | |
X | g.53241812T>C | CA413148908 | IQSEC2 | c.3146A>G (p.Glu1049Gly) c.939A>G c.448A>G c.277A>G c.50A>G (p.Glu17Gly) c.2987A>G (p.Glu996Gly) n.1294A>G c.2957A>G (p.Glu986Gly) c.2372A>G (p.Glu791Gly) c.3083A>G (p.Glu1028Gly) c.2309A>G (p.Glu770Gly) c.2276A>G (p.Glu759Gly) n.3310A>G c.2489A>G (p.Glu830Gly) n.3304A>G | |
X | g.53241812T>G | CA413148903 | IQSEC2 | c.3146A>C (p.Glu1049Ala) c.939A>C c.448A>C c.277A>C c.50A>C (p.Glu17Ala) c.2987A>C (p.Glu996Ala) n.1294A>C c.2957A>C (p.Glu986Ala) c.2372A>C (p.Glu791Ala) c.3083A>C (p.Glu1028Ala) c.2309A>C (p.Glu770Ala) c.2276A>C (p.Glu759Ala) n.3310A>C c.2489A>C (p.Glu830Ala) n.3304A>C | dbSNP |
X | g.53241812T= | CA2429772807 | IQSEC2 | c.3146A= (p.Glu1049=) c.939A= c.448A= c.277A= c.50A= (p.Glu17=) c.2987A= (p.Glu996=) n.1294A= c.2957A= (p.Glu986=) c.2372A= (p.Glu791=) c.3083A= (p.Glu1028=) c.2309A= (p.Glu770=) c.2276A= (p.Glu759=) n.3310A= c.2489A= (p.Glu830=) n.3304A= | |
X | g.53241813C>A | CA413148916 | IQSEC2 | c.3145G>T (p.Glu1049Ter) c.938G>T c.447G>T c.276G>T c.49G>T (p.Glu17Ter) c.2986G>T (p.Glu996Ter) n.1293G>T c.2956G>T (p.Glu986Ter) c.2371G>T (p.Glu791Ter) c.3082G>T (p.Glu1028Ter) c.2308G>T (p.Glu770Ter) c.2275G>T (p.Glu759Ter) n.3309G>T c.2488G>T (p.Glu830Ter) n.3303G>T | |
X | g.53241813C>G | CA413148926 | IQSEC2 | c.3145G>C (p.Glu1049Gln) c.938G>C c.447G>C c.276G>C c.49G>C (p.Glu17Gln) c.2986G>C (p.Glu996Gln) n.1293G>C c.2956G>C (p.Glu986Gln) c.2371G>C (p.Glu791Gln) c.3082G>C (p.Glu1028Gln) c.2308G>C (p.Glu770Gln) c.2275G>C (p.Glu759Gln) n.3309G>C c.2488G>C (p.Glu830Gln) n.3303G>C | |
X | g.53241813C>T | CA413148920 | IQSEC2 | c.3145G>A (p.Glu1049Lys) c.938G>A c.447G>A c.276G>A c.49G>A (p.Glu17Lys) c.2986G>A (p.Glu996Lys) n.1293G>A c.2956G>A (p.Glu986Lys) c.2371G>A (p.Glu791Lys) c.3082G>A (p.Glu1028Lys) c.2308G>A (p.Glu770Lys) c.2275G>A (p.Glu759Lys) n.3309G>A c.2488G>A (p.Glu830Lys) n.3303G>A | |
X | g.53241814C>A | CA516424685 | IQSEC2 | c.3144G>T (p.Arg1048=) c.937G>T c.446G>T c.275G>T c.48G>T (p.Arg16=) c.2985G>T (p.Arg995=) n.1292G>T c.2955G>T (p.Arg985=) c.2370G>T (p.Arg790=) c.3081G>T (p.Arg1027=) c.2307G>T (p.Arg769=) c.2274G>T (p.Arg758=) n.3308G>T c.2487G>T (p.Arg829=) n.3302G>T | |
X | g.53241814C>G | CA516424691 | IQSEC2 | c.3144G>C (p.Arg1048=) c.937G>C c.446G>C c.275G>C c.48G>C (p.Arg16=) c.2985G>C (p.Arg995=) n.1292G>C c.2955G>C (p.Arg985=) c.2370G>C (p.Arg790=) c.3081G>C (p.Arg1027=) c.2307G>C (p.Arg769=) c.2274G>C (p.Arg758=) n.3308G>C c.2487G>C (p.Arg829=) n.3302G>C | |
X | g.53241814C>T | CA516424695 | IQSEC2 | c.3144G>A (p.Arg1048=) c.937G>A c.446G>A c.275G>A c.48G>A (p.Arg16=) c.2985G>A (p.Arg995=) n.1292G>A c.2955G>A (p.Arg985=) c.2370G>A (p.Arg790=) c.3081G>A (p.Arg1027=) c.2307G>A (p.Arg769=) c.2274G>A (p.Arg758=) n.3308G>A c.2487G>A (p.Arg829=) n.3302G>A | |
X | g.53241815C>A | CA413148929 | IQSEC2 | c.3143G>T (p.Arg1048Leu) c.936G>T c.445G>T c.274G>T c.47G>T (p.Arg16Leu) c.2984G>T (p.Arg995Leu) n.1291G>T c.2954G>T (p.Arg985Leu) c.2369G>T (p.Arg790Leu) c.3080G>T (p.Arg1027Leu) c.2306G>T (p.Arg769Leu) c.2273G>T (p.Arg758Leu) n.3307G>T c.2486G>T (p.Arg829Leu) n.3301G>T | |
X | g.53241815C= | CA2429772808 | IQSEC2 | c.3143G= (p.Arg1048=) c.936G= c.445G= c.274G= c.47G= (p.Arg16=) c.2984G= (p.Arg995=) n.1291G= c.2954G= (p.Arg985=) c.2369G= (p.Arg790=) c.3080G= (p.Arg1027=) c.2306G= (p.Arg769=) c.2273G= (p.Arg758=) n.3307G= c.2486G= (p.Arg829=) n.3301G= | |
X | g.53241815C>G | CA413148933 | IQSEC2 | c.3143G>C (p.Arg1048Pro) c.936G>C c.445G>C c.274G>C c.47G>C (p.Arg16Pro) c.2984G>C (p.Arg995Pro) n.1291G>C c.2954G>C (p.Arg985Pro) c.2369G>C (p.Arg790Pro) c.3080G>C (p.Arg1027Pro) c.2306G>C (p.Arg769Pro) c.2273G>C (p.Arg758Pro) n.3307G>C c.2486G>C (p.Arg829Pro) n.3301G>C | ClinVar |
X | g.53241815C>T | CA10603495 | IQSEC2 | c.3143G>A (p.Arg1048Gln) c.936G>A c.445G>A c.274G>A c.47G>A (p.Arg16Gln) c.2984G>A (p.Arg995Gln) n.1291G>A c.2954G>A (p.Arg985Gln) c.2369G>A (p.Arg790Gln) c.3080G>A (p.Arg1027Gln) c.2306G>A (p.Arg769Gln) c.2273G>A (p.Arg758Gln) n.3307G>A c.2486G>A (p.Arg829Gln) n.3301G>A | ClinVar dbSNP |
X | g.53241815_53241816delinsCG | CA2429772809 | IQSEC2 | c.3142_3143delinsCG (p.Arg1048=) c.935_936delinsCG c.444_445delinsCG c.273_274delinsCG c.46_47delinsCG (p.Arg16=) c.2983_2984delinsCG (p.Arg995=) n.1290_1291delinsCG c.2953_2954delinsCG (p.Arg985=) c.2368_2369delinsCG (p.Arg790=) c.3079_3080delinsCG (p.Arg1027=) c.2305_2306delinsCG (p.Arg769=) c.2272_2273delinsCG (p.Arg758=) n.3306_3307delinsCG c.2485_2486delinsCG (p.Arg829=) n.3300_3301delinsCG | |
X | g.53241816del | CA915951125 | IQSEC2 | c.3142del (p.Arg1048GlyfsTer23) c.935del c.444del c.273del c.46del (p.Arg16GlyfsTer23) c.2983del (p.Arg995GlyfsTer23) n.1290del c.2953del (p.Arg985GlyfsTer23) c.2368del (p.Arg790GlyfsTer23) c.3079del (p.Arg1027GlyfsTer23) c.2305del (p.Arg769GlyfsTer23) c.2272del (p.Arg758GlyfsTer23) n.3306del c.2485del (p.Arg829GlyfsTer23) n.3300del | ClinVar dbSNP |
X | g.53241816G>A | CA501123 | IQSEC2 | c.3142C>T (p.Arg1048Trp) c.935C>T c.444C>T c.273C>T c.46C>T (p.Arg16Trp) c.2983C>T (p.Arg995Trp) n.1290C>T c.2953C>T (p.Arg985Trp) c.2368C>T (p.Arg790Trp) c.3079C>T (p.Arg1027Trp) c.2305C>T (p.Arg769Trp) c.2272C>T (p.Arg758Trp) n.3306C>T c.2485C>T (p.Arg829Trp) n.3300C>T | ClinVar dbSNP COSMIC COSMIC COSMIC |
X | g.53241816G>C | CA413148941 | IQSEC2 | c.3142C>G (p.Arg1048Gly) c.935C>G c.444C>G c.273C>G c.46C>G (p.Arg16Gly) c.2983C>G (p.Arg995Gly) n.1290C>G c.2953C>G (p.Arg985Gly) c.2368C>G (p.Arg790Gly) c.3079C>G (p.Arg1027Gly) c.2305C>G (p.Arg769Gly) c.2272C>G (p.Arg758Gly) n.3306C>G c.2485C>G (p.Arg829Gly) n.3300C>G | |
X | g.53241816G= | CA2429772810 | IQSEC2 | c.3142C= (p.Arg1048=) c.935C= c.444C= c.273C= c.46C= (p.Arg16=) c.2983C= (p.Arg995=) n.1290C= c.2953C= (p.Arg985=) c.2368C= (p.Arg790=) c.3079C= (p.Arg1027=) c.2305C= (p.Arg769=) c.2272C= (p.Arg758=) n.3306C= c.2485C= (p.Arg829=) n.3300C= | |
X | g.53241816G>T | CA516424711 | IQSEC2 | c.3142C>A (p.Arg1048=) c.935C>A c.444C>A c.273C>A c.46C>A (p.Arg16=) c.2983C>A (p.Arg995=) n.1290C>A c.2953C>A (p.Arg985=) c.2368C>A (p.Arg790=) c.3079C>A (p.Arg1027=) c.2305C>A (p.Arg769=) c.2272C>A (p.Arg758=) n.3306C>A c.2485C>A (p.Arg829=) n.3300C>A | |
X | g.53241817C>A | CA413148948 | IQSEC2 | c.3141G>T (p.Gln1047His) c.934G>T c.443G>T c.272G>T c.45G>T (p.Gln15His) c.2982G>T (p.Gln994His) n.1289G>T c.2952G>T (p.Gln984His) c.2367G>T (p.Gln789His) c.3078G>T (p.Gln1026His) c.2304G>T (p.Gln768His) c.2271G>T (p.Gln757His) n.3305G>T c.2484G>T (p.Gln828His) n.3299G>T | |
X | g.53241817C>G | CA413148965 | IQSEC2 | c.3141G>C (p.Gln1047His) c.934G>C c.443G>C c.272G>C c.45G>C (p.Gln15His) c.2982G>C (p.Gln994His) n.1289G>C c.2952G>C (p.Gln984His) c.2367G>C (p.Gln789His) c.3078G>C (p.Gln1026His) c.2304G>C (p.Gln768His) c.2271G>C (p.Gln757His) n.3305G>C c.2484G>C (p.Gln828His) n.3299G>C | |
X | g.53241817C>T | CA516424718 | IQSEC2 | c.3141G>A (p.Gln1047=) c.934G>A c.443G>A c.272G>A c.45G>A (p.Gln15=) c.2982G>A (p.Gln994=) n.1289G>A c.2952G>A (p.Gln984=) c.2367G>A (p.Gln789=) c.3078G>A (p.Gln1026=) c.2304G>A (p.Gln768=) c.2271G>A (p.Gln757=) n.3305G>A c.2484G>A (p.Gln828=) n.3299G>A | |
X | g.53241818T>A | CA413148972 | IQSEC2 | c.3140A>T (p.Gln1047Leu) c.933A>T c.442A>T c.271A>T c.44A>T (p.Gln15Leu) c.2981A>T (p.Gln994Leu) n.1288A>T c.2951A>T (p.Gln984Leu) c.2366A>T (p.Gln789Leu) c.3077A>T (p.Gln1026Leu) c.2303A>T (p.Gln768Leu) c.2270A>T (p.Gln757Leu) n.3304A>T c.2483A>T (p.Gln828Leu) n.3298A>T | |
X | g.53241818T>C | CA413148989 | IQSEC2 | c.3140A>G (p.Gln1047Arg) c.933A>G c.442A>G c.271A>G c.44A>G (p.Gln15Arg) c.2981A>G (p.Gln994Arg) n.1288A>G c.2951A>G (p.Gln984Arg) c.2366A>G (p.Gln789Arg) c.3077A>G (p.Gln1026Arg) c.2303A>G (p.Gln768Arg) c.2270A>G (p.Gln757Arg) n.3304A>G c.2483A>G (p.Gln828Arg) n.3298A>G | gnomAD v4 |
X | g.53241818T>G | CA413148993 | IQSEC2 | c.3140A>C (p.Gln1047Pro) c.933A>C c.442A>C c.271A>C c.44A>C (p.Gln15Pro) c.2981A>C (p.Gln994Pro) n.1288A>C c.2951A>C (p.Gln984Pro) c.2366A>C (p.Gln789Pro) c.3077A>C (p.Gln1026Pro) c.2303A>C (p.Gln768Pro) c.2270A>C (p.Gln757Pro) n.3304A>C c.2483A>C (p.Gln828Pro) n.3298A>C | |
X | g.53241819G>A | CA413149011 | IQSEC2 | c.3139C>T (p.Gln1047Ter) c.932C>T c.441C>T c.270C>T c.43C>T (p.Gln15Ter) c.2980C>T (p.Gln994Ter) n.1287C>T c.2950C>T (p.Gln984Ter) c.2365C>T (p.Gln789Ter) c.3076C>T (p.Gln1026Ter) c.2302C>T (p.Gln768Ter) c.2269C>T (p.Gln757Ter) n.3303C>T c.2482C>T (p.Gln828Ter) n.3297C>T | |
X | g.53241819G>C | CA413149001 | IQSEC2 | c.3139C>G (p.Gln1047Glu) c.932C>G c.441C>G c.270C>G c.43C>G (p.Gln15Glu) c.2980C>G (p.Gln994Glu) n.1287C>G c.2950C>G (p.Gln984Glu) c.2365C>G (p.Gln789Glu) c.3076C>G (p.Gln1026Glu) c.2302C>G (p.Gln768Glu) c.2269C>G (p.Gln757Glu) n.3303C>G c.2482C>G (p.Gln828Glu) n.3297C>G | |
X | g.53241819G>T | CA413149008 | IQSEC2 | c.3139C>A (p.Gln1047Lys) c.932C>A c.441C>A c.270C>A c.43C>A (p.Gln15Lys) c.2980C>A (p.Gln994Lys) n.1287C>A c.2950C>A (p.Gln984Lys) c.2365C>A (p.Gln789Lys) c.3076C>A (p.Gln1026Lys) c.2302C>A (p.Gln768Lys) c.2269C>A (p.Gln757Lys) n.3303C>A c.2482C>A (p.Gln828Lys) n.3297C>A | |
X | g.53241820A>C | CA413149012 | IQSEC2 | c.3138T>G (p.His1046Gln) c.931T>G c.440T>G c.269T>G c.42T>G (p.His14Gln) c.2979T>G (p.His993Gln) n.1286T>G c.2949T>G (p.His983Gln) c.2364T>G (p.His788Gln) c.3075T>G (p.His1025Gln) c.2301T>G (p.His767Gln) c.2268T>G (p.His756Gln) n.3302T>G c.2481T>G (p.His827Gln) n.3296T>G | ClinVar dbSNP |
X | g.53241820A>G | CA516424743 | IQSEC2 | c.3138T>C (p.His1046=) c.931T>C c.440T>C c.269T>C c.42T>C (p.His14=) c.2979T>C (p.His993=) n.1286T>C c.2949T>C (p.His983=) c.2364T>C (p.His788=) c.3075T>C (p.His1025=) c.2301T>C (p.His767=) c.2268T>C (p.His756=) n.3302T>C c.2481T>C (p.His827=) n.3296T>C | |
X | g.53241820A>T | CA413149013 | IQSEC2 | c.3138T>A (p.His1046Gln) c.931T>A c.440T>A c.269T>A c.42T>A (p.His14Gln) c.2979T>A (p.His993Gln) n.1286T>A c.2949T>A (p.His983Gln) c.2364T>A (p.His788Gln) c.3075T>A (p.His1025Gln) c.2301T>A (p.His767Gln) c.2268T>A (p.His756Gln) n.3302T>A c.2481T>A (p.His827Gln) n.3296T>A | |
X | g.53241821T>A | CA413149016 | IQSEC2 | c.3137A>T (p.His1046Leu) c.930A>T c.439A>T c.268A>T c.41A>T (p.His14Leu) c.2978A>T (p.His993Leu) n.1285A>T c.2948A>T (p.His983Leu) c.2363A>T (p.His788Leu) c.3074A>T (p.His1025Leu) c.2300A>T (p.His767Leu) c.2267A>T (p.His756Leu) n.3301A>T c.2480A>T (p.His827Leu) n.3295A>T | |
X | g.53241821T>C | CA413149017 | IQSEC2 | c.3137A>G (p.His1046Arg) c.930A>G c.439A>G c.268A>G c.41A>G (p.His14Arg) c.2978A>G (p.His993Arg) n.1285A>G c.2948A>G (p.His983Arg) c.2363A>G (p.His788Arg) c.3074A>G (p.His1025Arg) c.2300A>G (p.His767Arg) c.2267A>G (p.His756Arg) n.3301A>G c.2480A>G (p.His827Arg) n.3295A>G | |
X | g.53241821T>G | CA413149018 | IQSEC2 | c.3137A>C (p.His1046Pro) c.930A>C c.439A>C c.268A>C c.41A>C (p.His14Pro) c.2978A>C (p.His993Pro) n.1285A>C c.2948A>C (p.His983Pro) c.2363A>C (p.His788Pro) c.3074A>C (p.His1025Pro) c.2300A>C (p.His767Pro) c.2267A>C (p.His756Pro) n.3301A>C c.2480A>C (p.His827Pro) n.3295A>C | |
X | g.53241822G>A | CA413149023 | IQSEC2 | c.3136C>T (p.His1046Tyr) c.929C>T c.438C>T c.267C>T c.40C>T (p.His14Tyr) c.2977C>T (p.His993Tyr) n.1284C>T c.2947C>T (p.His983Tyr) c.2362C>T (p.His788Tyr) c.3073C>T (p.His1025Tyr) c.2299C>T (p.His767Tyr) c.2266C>T (p.His756Tyr) n.3300C>T c.2479C>T (p.His827Tyr) n.3294C>T | ClinVar |
X | g.53241822G>C | CA413149026 | IQSEC2 | c.3136C>G (p.His1046Asp) c.929C>G c.438C>G c.267C>G c.40C>G (p.His14Asp) c.2977C>G (p.His993Asp) n.1284C>G c.2947C>G (p.His983Asp) c.2362C>G (p.His788Asp) c.3073C>G (p.His1025Asp) c.2299C>G (p.His767Asp) c.2266C>G (p.His756Asp) n.3300C>G c.2479C>G (p.His827Asp) n.3294C>G | |
X | g.53241822G>T | CA413149031 | IQSEC2 | c.3136C>A (p.His1046Asn) c.929C>A c.438C>A c.267C>A c.40C>A (p.His14Asn) c.2977C>A (p.His993Asn) n.1284C>A c.2947C>A (p.His983Asn) c.2362C>A (p.His788Asn) c.3073C>A (p.His1025Asn) c.2299C>A (p.His767Asn) c.2266C>A (p.His756Asn) n.3300C>A c.2479C>A (p.His827Asn) n.3294C>A | |
X | g.53241823C>A | CA413149037 | IQSEC2 | c.3135G>T (p.Leu1045Phe) c.928G>T c.437G>T c.266G>T c.39G>T (p.Leu13Phe) c.2976G>T (p.Leu992Phe) n.1283G>T c.2946G>T (p.Leu982Phe) c.2361G>T (p.Leu787Phe) c.3072G>T (p.Leu1024Phe) c.2298G>T (p.Leu766Phe) c.2265G>T (p.Leu755Phe) n.3299G>T c.2478G>T (p.Leu826Phe) n.3293G>T | |
X | g.53241823C>G | CA413149047 | IQSEC2 | c.3135G>C (p.Leu1045Phe) c.928G>C c.437G>C c.266G>C c.39G>C (p.Leu13Phe) c.2976G>C (p.Leu992Phe) n.1283G>C c.2946G>C (p.Leu982Phe) c.2361G>C (p.Leu787Phe) c.3072G>C (p.Leu1024Phe) c.2298G>C (p.Leu766Phe) c.2265G>C (p.Leu755Phe) n.3299G>C c.2478G>C (p.Leu826Phe) n.3293G>C | |
X | g.53241823C>T | CA516424764 | IQSEC2 | c.3135G>A (p.Leu1045=) c.928G>A c.437G>A c.266G>A c.39G>A (p.Leu13=) c.2976G>A (p.Leu992=) n.1283G>A c.2946G>A (p.Leu982=) c.2361G>A (p.Leu787=) c.3072G>A (p.Leu1024=) c.2298G>A (p.Leu766=) c.2265G>A (p.Leu755=) n.3299G>A c.2478G>A (p.Leu826=) n.3293G>A | |
X | g.53241824A= | CA2429772811 | IQSEC2 | c.3134T= (p.Leu1045=) c.927T= c.436T= c.265T= c.38T= (p.Leu13=) c.2975T= (p.Leu992=) n.1282T= c.2945T= (p.Leu982=) c.2360T= (p.Leu787=) c.3071T= (p.Leu1024=) c.2297T= (p.Leu766=) c.2264T= (p.Leu755=) n.3298T= c.2477T= (p.Leu826=) n.3292T= | |
X | g.53241824A>C | CA413149055 | IQSEC2 | c.3134T>G (p.Leu1045Trp) c.927T>G c.436T>G c.265T>G c.38T>G (p.Leu13Trp) c.2975T>G (p.Leu992Trp) n.1282T>G c.2945T>G (p.Leu982Trp) c.2360T>G (p.Leu787Trp) c.3071T>G (p.Leu1024Trp) c.2297T>G (p.Leu766Trp) c.2264T>G (p.Leu755Trp) n.3298T>G c.2477T>G (p.Leu826Trp) n.3292T>G | |
X | g.53241824A>G | CA413149063 | IQSEC2 | c.3134T>C (p.Leu1045Ser) c.927T>C c.436T>C c.265T>C c.38T>C (p.Leu13Ser) c.2975T>C (p.Leu992Ser) n.1282T>C c.2945T>C (p.Leu982Ser) c.2360T>C (p.Leu787Ser) c.3071T>C (p.Leu1024Ser) c.2297T>C (p.Leu766Ser) c.2264T>C (p.Leu755Ser) n.3298T>C c.2477T>C (p.Leu826Ser) n.3292T>C | |
X | g.53241824A>T | CA10419867 | IQSEC2 | c.3134T>A (p.Leu1045Ter) c.927T>A c.436T>A c.265T>A c.38T>A (p.Leu13Ter) c.2975T>A (p.Leu992Ter) n.1282T>A c.2945T>A (p.Leu982Ter) c.2360T>A (p.Leu787Ter) c.3071T>A (p.Leu1024Ter) c.2297T>A (p.Leu766Ter) c.2264T>A (p.Leu755Ter) n.3298T>A c.2477T>A (p.Leu826Ter) n.3292T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53241825A>C | CA413149068 | IQSEC2 | c.3133T>G (p.Leu1045Val) c.926T>G c.435T>G c.264T>G c.37T>G (p.Leu13Val) c.2974T>G (p.Leu992Val) n.1281T>G c.2944T>G (p.Leu982Val) c.2359T>G (p.Leu787Val) c.3070T>G (p.Leu1024Val) c.2296T>G (p.Leu766Val) c.2263T>G (p.Leu755Val) n.3297T>G c.2476T>G (p.Leu826Val) n.3291T>G | |
X | g.53241825A>G | CA516424779 | IQSEC2 | c.3133T>C (p.Leu1045=) c.926T>C c.435T>C c.264T>C c.37T>C (p.Leu13=) c.2974T>C (p.Leu992=) n.1281T>C c.2944T>C (p.Leu982=) c.2359T>C (p.Leu787=) c.3070T>C (p.Leu1024=) c.2296T>C (p.Leu766=) c.2263T>C (p.Leu755=) n.3297T>C c.2476T>C (p.Leu826=) n.3291T>C | |
X | g.53241825A>T | CA413149072 | IQSEC2 | c.3133T>A (p.Leu1045Met) c.926T>A c.435T>A c.264T>A c.37T>A (p.Leu13Met) c.2974T>A (p.Leu992Met) n.1281T>A c.2944T>A (p.Leu982Met) c.2359T>A (p.Leu787Met) c.3070T>A (p.Leu1024Met) c.2296T>A (p.Leu766Met) c.2263T>A (p.Leu755Met) n.3297T>A c.2476T>A (p.Leu826Met) n.3291T>A | |
X | g.53241826C>A | CA516424785 | IQSEC2 | c.3132G>T (p.Gly1044=) c.925G>T c.434G>T c.263G>T c.36G>T (p.Gly12=) c.2973G>T (p.Gly991=) n.1280G>T c.2943G>T (p.Gly981=) c.2358G>T (p.Gly786=) c.3069G>T (p.Gly1023=) c.2295G>T (p.Gly765=) c.2262G>T (p.Gly754=) n.3296G>T c.2475G>T (p.Gly825=) n.3290G>T | |
X | g.53241826C>G | CA516424789 | IQSEC2 | c.3132G>C (p.Gly1044=) c.925G>C c.434G>C c.263G>C c.36G>C (p.Gly12=) c.2973G>C (p.Gly991=) n.1280G>C c.2943G>C (p.Gly981=) c.2358G>C (p.Gly786=) c.3069G>C (p.Gly1023=) c.2295G>C (p.Gly765=) c.2262G>C (p.Gly754=) n.3296G>C c.2475G>C (p.Gly825=) n.3290G>C | |
X | g.53241826C>T | CA516424790 | IQSEC2 | c.3132G>A (p.Gly1044=) c.925G>A c.434G>A c.263G>A c.36G>A (p.Gly12=) c.2973G>A (p.Gly991=) n.1280G>A c.2943G>A (p.Gly981=) c.2358G>A (p.Gly786=) c.3069G>A (p.Gly1023=) c.2295G>A (p.Gly765=) c.2262G>A (p.Gly754=) n.3296G>A c.2475G>A (p.Gly825=) n.3290G>A | |
X | g.53241827C>A | CA413149082 | IQSEC2 | c.3131G>T (p.Gly1044Val) c.924G>T c.433G>T c.262G>T c.35G>T (p.Gly12Val) c.2972G>T (p.Gly991Val) n.1279G>T c.2942G>T (p.Gly981Val) c.2357G>T (p.Gly786Val) c.3068G>T (p.Gly1023Val) c.2294G>T (p.Gly765Val) c.2261G>T (p.Gly754Val) n.3295G>T c.2474G>T (p.Gly825Val) n.3289G>T | |
X | g.53241827C>G | CA413149084 | IQSEC2 | c.3131G>C (p.Gly1044Ala) c.924G>C c.433G>C c.262G>C c.35G>C (p.Gly12Ala) c.2972G>C (p.Gly991Ala) n.1279G>C c.2942G>C (p.Gly981Ala) c.2357G>C (p.Gly786Ala) c.3068G>C (p.Gly1023Ala) c.2294G>C (p.Gly765Ala) c.2261G>C (p.Gly754Ala) n.3295G>C c.2474G>C (p.Gly825Ala) n.3289G>C | |
X | g.53241827C>T | CA413149089 | IQSEC2 | c.3131G>A (p.Gly1044Glu) c.924G>A c.433G>A c.262G>A c.35G>A (p.Gly12Glu) c.2972G>A (p.Gly991Glu) n.1279G>A c.2942G>A (p.Gly981Glu) c.2357G>A (p.Gly786Glu) c.3068G>A (p.Gly1023Glu) c.2294G>A (p.Gly765Glu) c.2261G>A (p.Gly754Glu) n.3295G>A c.2474G>A (p.Gly825Glu) n.3289G>A | |
X | g.53241828C>A | CA413149095 | IQSEC2 | c.3130G>T (p.Gly1044Trp) c.923G>T c.432G>T c.261G>T c.34G>T (p.Gly12Trp) c.2971G>T (p.Gly991Trp) n.1278G>T c.2941G>T (p.Gly981Trp) c.2356G>T (p.Gly786Trp) c.3067G>T (p.Gly1023Trp) c.2293G>T (p.Gly765Trp) c.2260G>T (p.Gly754Trp) n.3294G>T c.2473G>T (p.Gly825Trp) n.3288G>T | |
X | g.53241828C= | CA2429772812 | IQSEC2 | c.3130G= (p.Gly1044=) c.923G= c.432G= c.261G= c.34G= (p.Gly12=) c.2971G= (p.Gly991=) n.1278G= c.2941G= (p.Gly981=) c.2356G= (p.Gly786=) c.3067G= (p.Gly1023=) c.2293G= (p.Gly765=) c.2260G= (p.Gly754=) n.3294G= c.2473G= (p.Gly825=) n.3288G= | |
X | g.53241828C>G | CA10419868 | IQSEC2 | c.3130G>C (p.Gly1044Arg) c.923G>C c.432G>C c.261G>C c.34G>C (p.Gly12Arg) c.2971G>C (p.Gly991Arg) n.1278G>C c.2941G>C (p.Gly981Arg) c.2356G>C (p.Gly786Arg) c.3067G>C (p.Gly1023Arg) c.2293G>C (p.Gly765Arg) c.2260G>C (p.Gly754Arg) n.3294G>C c.2473G>C (p.Gly825Arg) n.3288G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53241828C>T | CA413149103 | IQSEC2 | c.3130G>A (p.Gly1044Arg) c.923G>A c.432G>A c.261G>A c.34G>A (p.Gly12Arg) c.2971G>A (p.Gly991Arg) n.1278G>A c.2941G>A (p.Gly981Arg) c.2356G>A (p.Gly786Arg) c.3067G>A (p.Gly1023Arg) c.2293G>A (p.Gly765Arg) c.2260G>A (p.Gly754Arg) n.3294G>A c.2473G>A (p.Gly825Arg) n.3288G>A | dbSNP gnomAD v2 |
X | g.53241829T>A | CA516424808 | IQSEC2 | c.3129A>T (p.Leu1043=) c.922A>T c.431A>T c.260A>T c.33A>T (p.Leu11=) c.2970A>T (p.Leu990=) n.1277A>T c.2940A>T (p.Leu980=) c.2355A>T (p.Leu785=) c.3066A>T (p.Leu1022=) c.2292A>T (p.Leu764=) c.2259A>T (p.Leu753=) n.3293A>T c.2472A>T (p.Leu824=) n.3287A>T | |
X | g.53241829T>C | CA516424812 | IQSEC2 | c.3129A>G (p.Leu1043=) c.922A>G c.431A>G c.260A>G c.33A>G (p.Leu11=) c.2970A>G (p.Leu990=) n.1277A>G c.2940A>G (p.Leu980=) c.2355A>G (p.Leu785=) c.3066A>G (p.Leu1022=) c.2292A>G (p.Leu764=) c.2259A>G (p.Leu753=) n.3293A>G c.2472A>G (p.Leu824=) n.3287A>G | |
X | g.53241829T>G | CA516424813 | IQSEC2 | c.3129A>C (p.Leu1043=) c.922A>C c.431A>C c.260A>C c.33A>C (p.Leu11=) c.2970A>C (p.Leu990=) n.1277A>C c.2940A>C (p.Leu980=) c.2355A>C (p.Leu785=) c.3066A>C (p.Leu1022=) c.2292A>C (p.Leu764=) c.2259A>C (p.Leu753=) n.3293A>C c.2472A>C (p.Leu824=) n.3287A>C | |
X | g.53241830A>C | CA413149111 | IQSEC2 | c.3128T>G (p.Leu1043Arg) c.921T>G c.430T>G c.259T>G c.32T>G (p.Leu11Arg) c.2969T>G (p.Leu990Arg) n.1276T>G c.2939T>G (p.Leu980Arg) c.2354T>G (p.Leu785Arg) c.3065T>G (p.Leu1022Arg) c.2291T>G (p.Leu764Arg) c.2258T>G (p.Leu753Arg) n.3292T>G c.2471T>G (p.Leu824Arg) n.3286T>G | |
X | g.53241830A>G | CA413149122 | IQSEC2 | c.3128T>C (p.Leu1043Pro) c.921T>C c.430T>C c.259T>C c.32T>C (p.Leu11Pro) c.2969T>C (p.Leu990Pro) n.1276T>C c.2939T>C (p.Leu980Pro) c.2354T>C (p.Leu785Pro) c.3065T>C (p.Leu1022Pro) c.2291T>C (p.Leu764Pro) c.2258T>C (p.Leu753Pro) n.3292T>C c.2471T>C (p.Leu824Pro) n.3286T>C | |
X | g.53241830A>T | CA413149144 | IQSEC2 | c.3128T>A (p.Leu1043Gln) c.921T>A c.430T>A c.259T>A c.32T>A (p.Leu11Gln) c.2969T>A (p.Leu990Gln) n.1276T>A c.2939T>A (p.Leu980Gln) c.2354T>A (p.Leu785Gln) c.3065T>A (p.Leu1022Gln) c.2291T>A (p.Leu764Gln) c.2258T>A (p.Leu753Gln) n.3292T>A c.2471T>A (p.Leu824Gln) n.3286T>A | |
X | g.53241831G>A | CA516424828 | IQSEC2 | c.3127C>T (p.Leu1043=) c.920C>T c.429C>T c.258C>T c.31C>T (p.Leu11=) c.2968C>T (p.Leu990=) n.1275C>T c.2938C>T (p.Leu980=) c.2353C>T (p.Leu785=) c.3064C>T (p.Leu1022=) c.2290C>T (p.Leu764=) c.2257C>T (p.Leu753=) n.3291C>T c.2470C>T (p.Leu824=) n.3285C>T | |
X | g.53241831G>C | CA413149145 | IQSEC2 | c.3127C>G (p.Leu1043Val) c.920C>G c.429C>G c.258C>G c.31C>G (p.Leu11Val) c.2968C>G (p.Leu990Val) n.1275C>G c.2938C>G (p.Leu980Val) c.2353C>G (p.Leu785Val) c.3064C>G (p.Leu1022Val) c.2290C>G (p.Leu764Val) c.2257C>G (p.Leu753Val) n.3291C>G c.2470C>G (p.Leu824Val) n.3285C>G | |
X | g.53241831G>T | CA413149146 | IQSEC2 | c.3127C>A (p.Leu1043Ile) c.920C>A c.429C>A c.258C>A c.31C>A (p.Leu11Ile) c.2968C>A (p.Leu990Ile) n.1275C>A c.2938C>A (p.Leu980Ile) c.2353C>A (p.Leu785Ile) c.3064C>A (p.Leu1022Ile) c.2290C>A (p.Leu764Ile) c.2257C>A (p.Leu753Ile) n.3291C>A c.2470C>A (p.Leu824Ile) n.3285C>A | |
X | g.53241832C>A | CA413149148 | IQSEC2 | c.3126G>T (p.Arg1042Ser) c.919G>T c.428G>T c.257G>T c.30G>T (p.Arg10Ser) c.2967G>T (p.Arg989Ser) n.1274G>T c.2937G>T (p.Arg979Ser) c.2352G>T (p.Arg784Ser) c.3063G>T (p.Arg1021Ser) c.2289G>T (p.Arg763Ser) c.2256G>T (p.Arg752Ser) n.3290G>T c.2469G>T (p.Arg823Ser) n.3284G>T | |
X | g.53241832C>G | CA413149152 | IQSEC2 | c.3126G>C (p.Arg1042Ser) c.919G>C c.428G>C c.257G>C c.30G>C (p.Arg10Ser) c.2967G>C (p.Arg989Ser) n.1274G>C c.2937G>C (p.Arg979Ser) c.2352G>C (p.Arg784Ser) c.3063G>C (p.Arg1021Ser) c.2289G>C (p.Arg763Ser) c.2256G>C (p.Arg752Ser) n.3290G>C c.2469G>C (p.Arg823Ser) n.3284G>C | |
X | g.53241832C>T | CA516424841 | IQSEC2 | c.3126G>A (p.Arg1042=) c.919G>A c.428G>A c.257G>A c.30G>A (p.Arg10=) c.2967G>A (p.Arg989=) n.1274G>A c.2937G>A (p.Arg979=) c.2352G>A (p.Arg784=) c.3063G>A (p.Arg1021=) c.2289G>A (p.Arg763=) c.2256G>A (p.Arg752=) n.3290G>A c.2469G>A (p.Arg823=) n.3284G>A | |
X | g.53241833C>A | CA413149156 | IQSEC2 | c.3125G>T (p.Arg1042Met) c.918G>T c.427G>T c.256G>T c.29G>T (p.Arg10Met) c.2966G>T (p.Arg989Met) n.1273G>T c.2936G>T (p.Arg979Met) c.2351G>T (p.Arg784Met) c.3062G>T (p.Arg1021Met) c.2288G>T (p.Arg763Met) c.2255G>T (p.Arg752Met) n.3289G>T c.2468G>T (p.Arg823Met) n.3283G>T | |
X | g.53241833C>G | CA413149157 | IQSEC2 | c.3125G>C (p.Arg1042Thr) c.918G>C c.427G>C c.256G>C c.29G>C (p.Arg10Thr) c.2966G>C (p.Arg989Thr) n.1273G>C c.2936G>C (p.Arg979Thr) c.2351G>C (p.Arg784Thr) c.3062G>C (p.Arg1021Thr) c.2288G>C (p.Arg763Thr) c.2255G>C (p.Arg752Thr) n.3289G>C c.2468G>C (p.Arg823Thr) n.3283G>C | |
X | g.53241833C>T | CA413149160 | IQSEC2 | c.3125G>A (p.Arg1042Lys) c.918G>A c.427G>A c.256G>A c.29G>A (p.Arg10Lys) c.2966G>A (p.Arg989Lys) n.1273G>A c.2936G>A (p.Arg979Lys) c.2351G>A (p.Arg784Lys) c.3062G>A (p.Arg1021Lys) c.2288G>A (p.Arg763Lys) c.2255G>A (p.Arg752Lys) n.3289G>A c.2468G>A (p.Arg823Lys) n.3283G>A | |
X | g.53241834T>A | CA413149173 | IQSEC2 | c.3124A>T (p.Arg1042Trp) c.917A>T c.426A>T c.255A>T c.28A>T (p.Arg10Trp) c.2965A>T (p.Arg989Trp) n.1272A>T c.2935A>T (p.Arg979Trp) c.2350A>T (p.Arg784Trp) c.3061A>T (p.Arg1021Trp) c.2287A>T (p.Arg763Trp) c.2254A>T (p.Arg752Trp) n.3288A>T c.2467A>T (p.Arg823Trp) n.3282A>T | |
X | g.53241834T>C | CA413149175 | IQSEC2 | c.3124A>G (p.Arg1042Gly) c.917A>G c.426A>G c.255A>G c.28A>G (p.Arg10Gly) c.2965A>G (p.Arg989Gly) n.1272A>G c.2935A>G (p.Arg979Gly) c.2350A>G (p.Arg784Gly) c.3061A>G (p.Arg1021Gly) c.2287A>G (p.Arg763Gly) c.2254A>G (p.Arg752Gly) n.3288A>G c.2467A>G (p.Arg823Gly) n.3282A>G | |
X | g.53241834T>G | CA516424852 | IQSEC2 | c.3124A>C (p.Arg1042=) c.917A>C c.426A>C c.255A>C c.28A>C (p.Arg10=) c.2965A>C (p.Arg989=) n.1272A>C c.2935A>C (p.Arg979=) c.2350A>C (p.Arg784=) c.3061A>C (p.Arg1021=) c.2287A>C (p.Arg763=) c.2254A>C (p.Arg752=) n.3288A>C c.2467A>C (p.Arg823=) n.3282A>C | |
X | g.53241835C>A | CA413149180 | IQSEC2 | c.3123G>T (p.Gln1041His) c.916G>T c.425G>T c.254G>T c.27G>T (p.Gln9His) c.2964G>T (p.Gln988His) n.1271G>T c.2934G>T (p.Gln978His) c.2349G>T (p.Gln783His) c.3060G>T (p.Gln1020His) c.2286G>T (p.Gln762His) c.2253G>T (p.Gln751His) n.3287G>T c.2466G>T (p.Gln822His) n.3281G>T | |
X | g.53241835C>G | CA413149181 | IQSEC2 | c.3123G>C (p.Gln1041His) c.916G>C c.425G>C c.254G>C c.27G>C (p.Gln9His) c.2964G>C (p.Gln988His) n.1271G>C c.2934G>C (p.Gln978His) c.2349G>C (p.Gln783His) c.3060G>C (p.Gln1020His) c.2286G>C (p.Gln762His) c.2253G>C (p.Gln751His) n.3287G>C c.2466G>C (p.Gln822His) n.3281G>C | |
X | g.53241835C>T | CA516424859 | IQSEC2 | c.3123G>A (p.Gln1041=) c.916G>A c.425G>A c.254G>A c.27G>A (p.Gln9=) c.2964G>A (p.Gln988=) n.1271G>A c.2934G>A (p.Gln978=) c.2349G>A (p.Gln783=) c.3060G>A (p.Gln1020=) c.2286G>A (p.Gln762=) c.2253G>A (p.Gln751=) n.3287G>A c.2466G>A (p.Gln822=) n.3281G>A | gnomAD v4 |
X | g.53241836del | CA516424868 | IQSEC2 | c.3122del (p.Gln1041ArgfsTer3) c.915del c.424del c.253del c.26del (p.Gln9ArgfsTer3) c.2963del (p.Gln988ArgfsTer3) n.1270del c.2933del (p.Gln978ArgfsTer3) c.2348del (p.Gln783ArgfsTer3) c.3059del (p.Gln1020ArgfsTer3) c.2285del (p.Gln762ArgfsTer3) c.2252del (p.Gln751ArgfsTer3) n.3286del c.2465del (p.Gln822ArgfsTer3) n.3280del | COSMIC COSMIC |
X | g.53241836T>A | CA413149186 | IQSEC2 | c.3122A>T (p.Gln1041Leu) c.915A>T c.424A>T c.253A>T c.26A>T (p.Gln9Leu) c.2963A>T (p.Gln988Leu) n.1270A>T c.2933A>T (p.Gln978Leu) c.2348A>T (p.Gln783Leu) c.3059A>T (p.Gln1020Leu) c.2285A>T (p.Gln762Leu) c.2252A>T (p.Gln751Leu) n.3286A>T c.2465A>T (p.Gln822Leu) n.3280A>T | |
X | g.53241836T>C | CA413149190 | IQSEC2 | c.3122A>G (p.Gln1041Arg) c.915A>G c.424A>G c.253A>G c.26A>G (p.Gln9Arg) c.2963A>G (p.Gln988Arg) n.1270A>G c.2933A>G (p.Gln978Arg) c.2348A>G (p.Gln783Arg) c.3059A>G (p.Gln1020Arg) c.2285A>G (p.Gln762Arg) c.2252A>G (p.Gln751Arg) n.3286A>G c.2465A>G (p.Gln822Arg) n.3280A>G | |
X | g.53241836T>G | CA413149197 | IQSEC2 | c.3122A>C (p.Gln1041Pro) c.915A>C c.424A>C c.253A>C c.26A>C (p.Gln9Pro) c.2963A>C (p.Gln988Pro) n.1270A>C c.2933A>C (p.Gln978Pro) c.2348A>C (p.Gln783Pro) c.3059A>C (p.Gln1020Pro) c.2285A>C (p.Gln762Pro) c.2252A>C (p.Gln751Pro) n.3286A>C c.2465A>C (p.Gln822Pro) n.3280A>C | |
X | g.53241837G>A | CA413149198 | IQSEC2 | c.3121C>T (p.Gln1041Ter) c.914C>T c.423C>T c.252C>T c.25C>T (p.Gln9Ter) c.2962C>T (p.Gln988Ter) n.1269C>T c.2932C>T (p.Gln978Ter) c.2347C>T (p.Gln783Ter) c.3058C>T (p.Gln1020Ter) c.2284C>T (p.Gln762Ter) c.2251C>T (p.Gln751Ter) n.3285C>T c.2464C>T (p.Gln822Ter) n.3279C>T | |
X | g.53241837G>C | CA413149199 | IQSEC2 | c.3121C>G (p.Gln1041Glu) c.914C>G c.423C>G c.252C>G c.25C>G (p.Gln9Glu) c.2962C>G (p.Gln988Glu) n.1269C>G c.2932C>G (p.Gln978Glu) c.2347C>G (p.Gln783Glu) c.3058C>G (p.Gln1020Glu) c.2284C>G (p.Gln762Glu) c.2251C>G (p.Gln751Glu) n.3285C>G c.2464C>G (p.Gln822Glu) n.3279C>G | |
X | g.53241837G>T | CA413149204 | IQSEC2 | c.3121C>A (p.Gln1041Lys) c.914C>A c.423C>A c.252C>A c.25C>A (p.Gln9Lys) c.2962C>A (p.Gln988Lys) n.1269C>A c.2932C>A (p.Gln978Lys) c.2347C>A (p.Gln783Lys) c.3058C>A (p.Gln1020Lys) c.2284C>A (p.Gln762Lys) c.2251C>A (p.Gln751Lys) n.3285C>A c.2464C>A (p.Gln822Lys) n.3279C>A | |
X | g.53241841dup | CA2832576993 | IQSEC2 | c.3121dup (p.Gln1041ProfsTer15) c.914dup c.423dup c.252dup c.25dup (p.Gln9ProfsTer15) c.2962dup (p.Gln988ProfsTer15) n.1269dup c.2932dup (p.Gln978ProfsTer15) c.2347dup (p.Gln783ProfsTer15) c.3058dup (p.Gln1020ProfsTer15) c.2284dup (p.Gln762ProfsTer15) c.2251dup (p.Gln751ProfsTer15) n.3285dup c.2464dup (p.Gln822ProfsTer15) n.3279dup | |
X | g.53241841del | CA2843379968 | IQSEC2 | c.3121del (p.Gln1041ArgfsTer3) c.914del c.423del c.252del c.25del (p.Gln9ArgfsTer3) c.2962del (p.Gln988ArgfsTer3) n.1269del c.2932del (p.Gln978ArgfsTer3) c.2347del (p.Gln783ArgfsTer3) c.3058del (p.Gln1020ArgfsTer3) c.2284del (p.Gln762ArgfsTer3) c.2251del (p.Gln751ArgfsTer3) n.3285del c.2464del (p.Gln822ArgfsTer3) n.3279del | |
X | g.53241838G>A | CA516424884 | IQSEC2 | c.3120C>T (p.Pro1040=) c.913C>T c.422C>T c.251C>T c.24C>T (p.Pro8=) c.2961C>T (p.Pro987=) n.1268C>T c.2931C>T (p.Pro977=) c.2346C>T (p.Pro782=) c.3057C>T (p.Pro1019=) c.2283C>T (p.Pro761=) c.2250C>T (p.Pro750=) n.3284C>T c.2463C>T (p.Pro821=) n.3278C>T | |
X | g.53241838G>C | CA516424881 | IQSEC2 | c.3120C>G (p.Pro1040=) c.913C>G c.422C>G c.251C>G c.24C>G (p.Pro8=) c.2961C>G (p.Pro987=) n.1268C>G c.2931C>G (p.Pro977=) c.2346C>G (p.Pro782=) c.3057C>G (p.Pro1019=) c.2283C>G (p.Pro761=) c.2250C>G (p.Pro750=) n.3284C>G c.2463C>G (p.Pro821=) n.3278C>G | |
X | g.53241838G>T | CA516424883 | IQSEC2 | c.3120C>A (p.Pro1040=) c.913C>A c.422C>A c.251C>A c.24C>A (p.Pro8=) c.2961C>A (p.Pro987=) n.1268C>A c.2931C>A (p.Pro977=) c.2346C>A (p.Pro782=) c.3057C>A (p.Pro1019=) c.2283C>A (p.Pro761=) c.2250C>A (p.Pro750=) n.3284C>A c.2463C>A (p.Pro821=) n.3278C>A | |
X | g.53241839G>A | CA413149211 | IQSEC2 | c.3119C>T (p.Pro1040Leu) c.912C>T c.421C>T c.250C>T c.23C>T (p.Pro8Leu) c.2960C>T (p.Pro987Leu) n.1267C>T c.2930C>T (p.Pro977Leu) c.2345C>T (p.Pro782Leu) c.3056C>T (p.Pro1019Leu) c.2282C>T (p.Pro761Leu) c.2249C>T (p.Pro750Leu) n.3283C>T c.2462C>T (p.Pro821Leu) n.3277C>T | gnomAD v4 |
X | g.53241839G>C | CA413149215 | IQSEC2 | c.3119C>G (p.Pro1040Arg) c.912C>G c.421C>G c.250C>G c.23C>G (p.Pro8Arg) c.2960C>G (p.Pro987Arg) n.1267C>G c.2930C>G (p.Pro977Arg) c.2345C>G (p.Pro782Arg) c.3056C>G (p.Pro1019Arg) c.2282C>G (p.Pro761Arg) c.2249C>G (p.Pro750Arg) n.3283C>G c.2462C>G (p.Pro821Arg) n.3277C>G | |
X | g.53241839G>T | CA413149207 | IQSEC2 | c.3119C>A (p.Pro1040His) c.912C>A c.421C>A c.250C>A c.23C>A (p.Pro8His) c.2960C>A (p.Pro987His) n.1267C>A c.2930C>A (p.Pro977His) c.2345C>A (p.Pro782His) c.3056C>A (p.Pro1019His) c.2282C>A (p.Pro761His) c.2249C>A (p.Pro750His) n.3283C>A c.2462C>A (p.Pro821His) n.3277C>A | |
X | g.53241840G>A | CA10419869 | IQSEC2 | c.3118C>T (p.Pro1040Ser) c.911C>T c.420C>T c.249C>T c.22C>T (p.Pro8Ser) c.2959C>T (p.Pro987Ser) n.1266C>T c.2929C>T (p.Pro977Ser) c.2344C>T (p.Pro782Ser) c.3055C>T (p.Pro1019Ser) c.2281C>T (p.Pro761Ser) c.2248C>T (p.Pro750Ser) n.3282C>T c.2461C>T (p.Pro821Ser) n.3276C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53241840G>C | CA413149224 | IQSEC2 | c.3118C>G (p.Pro1040Ala) c.911C>G c.420C>G c.249C>G c.22C>G (p.Pro8Ala) c.2959C>G (p.Pro987Ala) n.1266C>G c.2929C>G (p.Pro977Ala) c.2344C>G (p.Pro782Ala) c.3055C>G (p.Pro1019Ala) c.2281C>G (p.Pro761Ala) c.2248C>G (p.Pro750Ala) n.3282C>G c.2461C>G (p.Pro821Ala) n.3276C>G | |
X | g.53241840G= | CA2429772813 | IQSEC2 | c.3118C= (p.Pro1040=) c.911C= c.420C= c.249C= c.22C= (p.Pro8=) c.2959C= (p.Pro987=) n.1266C= c.2929C= (p.Pro977=) c.2344C= (p.Pro782=) c.3055C= (p.Pro1019=) c.2281C= (p.Pro761=) c.2248C= (p.Pro750=) n.3282C= c.2461C= (p.Pro821=) n.3276C= | |
X | g.53241840G>T | CA413149227 | IQSEC2 | c.3118C>A (p.Pro1040Thr) c.911C>A c.420C>A c.249C>A c.22C>A (p.Pro8Thr) c.2959C>A (p.Pro987Thr) n.1266C>A c.2929C>A (p.Pro977Thr) c.2344C>A (p.Pro782Thr) c.3055C>A (p.Pro1019Thr) c.2281C>A (p.Pro761Thr) c.2248C>A (p.Pro750Thr) n.3282C>A c.2461C>A (p.Pro821Thr) n.3276C>A | |
X | g.53241841G>A | CA516424898 | IQSEC2 | c.3117C>T (p.Arg1039=) c.910C>T c.419C>T c.248C>T c.21C>T (p.Arg7=) c.2958C>T (p.Arg986=) n.1265C>T c.2928C>T (p.Arg976=) c.2343C>T (p.Arg781=) c.3054C>T (p.Arg1018=) c.2280C>T (p.Arg760=) c.2247C>T (p.Arg749=) n.3281C>T c.2460C>T (p.Arg820=) n.3275C>T | dbSNP |
X | g.53241841G>C | CA516424905 | IQSEC2 | c.3117C>G (p.Arg1039=) c.910C>G c.419C>G c.248C>G c.21C>G (p.Arg7=) c.2958C>G (p.Arg986=) n.1265C>G c.2928C>G (p.Arg976=) c.2343C>G (p.Arg781=) c.3054C>G (p.Arg1018=) c.2280C>G (p.Arg760=) c.2247C>G (p.Arg749=) n.3281C>G c.2460C>G (p.Arg820=) n.3275C>G | |
X | g.53241841G= | CA2429772814 | IQSEC2 | c.3117C= (p.Arg1039=) c.910C= c.419C= c.248C= c.21C= (p.Arg7=) c.2958C= (p.Arg986=) n.1265C= c.2928C= (p.Arg976=) c.2343C= (p.Arg781=) c.3054C= (p.Arg1018=) c.2280C= (p.Arg760=) c.2247C= (p.Arg749=) n.3281C= c.2460C= (p.Arg820=) n.3275C= | |
X | g.53241841G>T | CA516424901 | IQSEC2 | c.3117C>A (p.Arg1039=) c.910C>A c.419C>A c.248C>A c.21C>A (p.Arg7=) c.2958C>A (p.Arg986=) n.1265C>A c.2928C>A (p.Arg976=) c.2343C>A (p.Arg781=) c.3054C>A (p.Arg1018=) c.2280C>A (p.Arg760=) c.2247C>A (p.Arg749=) n.3281C>A c.2460C>A (p.Arg820=) n.3275C>A | |
X | g.53241842C>A | CA413149237 | IQSEC2 | c.3116G>T (p.Arg1039Leu) c.909G>T c.418G>T c.247G>T c.20G>T (p.Arg7Leu) c.2957G>T (p.Arg986Leu) n.1264G>T c.2927G>T (p.Arg976Leu) c.2342G>T (p.Arg781Leu) c.3053G>T (p.Arg1018Leu) c.2279G>T (p.Arg760Leu) c.2246G>T (p.Arg749Leu) n.3280G>T c.2459G>T (p.Arg820Leu) n.3274G>T | |
X | g.53241842C= | CA2429772815 | IQSEC2 | c.3116G= (p.Arg1039=) c.909G= c.418G= c.247G= c.20G= (p.Arg7=) c.2957G= (p.Arg986=) n.1264G= c.2927G= (p.Arg976=) c.2342G= (p.Arg781=) c.3053G= (p.Arg1018=) c.2279G= (p.Arg760=) c.2246G= (p.Arg749=) n.3280G= c.2459G= (p.Arg820=) n.3274G= | |
X | g.53241842C>G | CA413149240 | IQSEC2 | c.3116G>C (p.Arg1039Pro) c.909G>C c.418G>C c.247G>C c.20G>C (p.Arg7Pro) c.2957G>C (p.Arg986Pro) n.1264G>C c.2927G>C (p.Arg976Pro) c.2342G>C (p.Arg781Pro) c.3053G>C (p.Arg1018Pro) c.2279G>C (p.Arg760Pro) c.2246G>C (p.Arg749Pro) n.3280G>C c.2459G>C (p.Arg820Pro) n.3274G>C | |
X | g.53241842C>T | CA10419870 | IQSEC2 | c.3116G>A (p.Arg1039His) c.909G>A c.418G>A c.247G>A c.20G>A (p.Arg7His) c.2957G>A (p.Arg986His) n.1264G>A c.2927G>A (p.Arg976His) c.2342G>A (p.Arg781His) c.3053G>A (p.Arg1018His) c.2279G>A (p.Arg760His) c.2246G>A (p.Arg749His) n.3280G>A c.2459G>A (p.Arg820His) n.3274G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53241843G>A | CA413149249 | IQSEC2 | c.3115C>T (p.Arg1039Cys) c.908C>T c.417C>T c.246C>T c.19C>T (p.Arg7Cys) c.2956C>T (p.Arg986Cys) n.1263C>T c.2926C>T (p.Arg976Cys) c.2341C>T (p.Arg781Cys) c.3052C>T (p.Arg1018Cys) c.2278C>T (p.Arg760Cys) c.2245C>T (p.Arg749Cys) n.3279C>T c.2458C>T (p.Arg820Cys) n.3273C>T | ClinVar dbSNP gnomAD v4 |
X | g.53241843G>C | CA413149252 | IQSEC2 | c.3115C>G (p.Arg1039Gly) c.908C>G c.417C>G c.246C>G c.19C>G (p.Arg7Gly) c.2956C>G (p.Arg986Gly) n.1263C>G c.2926C>G (p.Arg976Gly) c.2341C>G (p.Arg781Gly) c.3052C>G (p.Arg1018Gly) c.2278C>G (p.Arg760Gly) c.2245C>G (p.Arg749Gly) n.3279C>G c.2458C>G (p.Arg820Gly) n.3273C>G | |
X | g.53241843G= | CA2429772816 | IQSEC2 | c.3115C= (p.Arg1039=) c.908C= c.417C= c.246C= c.19C= (p.Arg7=) c.2956C= (p.Arg986=) n.1263C= c.2926C= (p.Arg976=) c.2341C= (p.Arg781=) c.3052C= (p.Arg1018=) c.2278C= (p.Arg760=) c.2245C= (p.Arg749=) n.3279C= c.2458C= (p.Arg820=) n.3273C= | |
X | g.53241843G>T | CA413149254 | IQSEC2 | c.3115C>A (p.Arg1039Ser) c.908C>A c.417C>A c.246C>A c.19C>A (p.Arg7Ser) c.2956C>A (p.Arg986Ser) n.1263C>A c.2926C>A (p.Arg976Ser) c.2341C>A (p.Arg781Ser) c.3052C>A (p.Arg1018Ser) c.2278C>A (p.Arg760Ser) c.2245C>A (p.Arg749Ser) n.3279C>A c.2458C>A (p.Arg820Ser) n.3273C>A | |
X | g.53241844G>A | CA516424925 | IQSEC2 | c.3114C>T (p.Asn1038=) c.907C>T c.416C>T c.245C>T c.18C>T (p.Asn6=) c.2955C>T (p.Asn985=) n.1262C>T c.2925C>T (p.Asn975=) c.2340C>T (p.Asn780=) c.3051C>T (p.Asn1017=) c.2277C>T (p.Asn759=) c.2244C>T (p.Asn748=) n.3278C>T c.2457C>T (p.Asn819=) n.3272C>T | |
X | g.53241844G>C | CA413149263 | IQSEC2 | c.3114C>G (p.Asn1038Lys) c.907C>G c.416C>G c.245C>G c.18C>G (p.Asn6Lys) c.2955C>G (p.Asn985Lys) n.1262C>G c.2925C>G (p.Asn975Lys) c.2340C>G (p.Asn780Lys) c.3051C>G (p.Asn1017Lys) c.2277C>G (p.Asn759Lys) c.2244C>G (p.Asn748Lys) n.3278C>G c.2457C>G (p.Asn819Lys) n.3272C>G | |
X | g.53241844G>T | CA413149268 | IQSEC2 | c.3114C>A (p.Asn1038Lys) c.907C>A c.416C>A c.245C>A c.18C>A (p.Asn6Lys) c.2955C>A (p.Asn985Lys) n.1262C>A c.2925C>A (p.Asn975Lys) c.2340C>A (p.Asn780Lys) c.3051C>A (p.Asn1017Lys) c.2277C>A (p.Asn759Lys) c.2244C>A (p.Asn748Lys) n.3278C>A c.2457C>A (p.Asn819Lys) n.3272C>A | |
X | g.53241845T>A | CA413149275 | IQSEC2 | c.3113A>T (p.Asn1038Ile) c.906A>T c.415A>T c.244A>T c.17A>T (p.Asn6Ile) c.2954A>T (p.Asn985Ile) n.1261A>T c.2924A>T (p.Asn975Ile) c.2339A>T (p.Asn780Ile) c.3050A>T (p.Asn1017Ile) c.2276A>T (p.Asn759Ile) c.2243A>T (p.Asn748Ile) n.3277A>T c.2456A>T (p.Asn819Ile) n.3271A>T | |
X | g.53241845T>C | CA413149280 | IQSEC2 | c.3113A>G (p.Asn1038Ser) c.906A>G c.415A>G c.244A>G c.17A>G (p.Asn6Ser) c.2954A>G (p.Asn985Ser) n.1261A>G c.2924A>G (p.Asn975Ser) c.2339A>G (p.Asn780Ser) c.3050A>G (p.Asn1017Ser) c.2276A>G (p.Asn759Ser) c.2243A>G (p.Asn748Ser) n.3277A>G c.2456A>G (p.Asn819Ser) n.3271A>G | |
X | g.53241845T>G | CA413149290 | IQSEC2 | c.3113A>C (p.Asn1038Thr) c.906A>C c.415A>C c.244A>C c.17A>C (p.Asn6Thr) c.2954A>C (p.Asn985Thr) n.1261A>C c.2924A>C (p.Asn975Thr) c.2339A>C (p.Asn780Thr) c.3050A>C (p.Asn1017Thr) c.2276A>C (p.Asn759Thr) c.2243A>C (p.Asn748Thr) n.3277A>C c.2456A>C (p.Asn819Thr) n.3271A>C | |
X | g.53241846T>A | CA413149311 | IQSEC2 | c.3112A>T (p.Asn1038Tyr) c.905A>T c.414A>T c.243A>T c.16A>T (p.Asn6Tyr) c.2953A>T (p.Asn985Tyr) n.1260A>T c.2923A>T (p.Asn975Tyr) c.2338A>T (p.Asn780Tyr) c.3049A>T (p.Asn1017Tyr) c.2275A>T (p.Asn759Tyr) c.2242A>T (p.Asn748Tyr) n.3276A>T c.2455A>T (p.Asn819Tyr) n.3270A>T | |
X | g.53241846T>C | CA413149301 | IQSEC2 | c.3112A>G (p.Asn1038Asp) c.905A>G c.414A>G c.243A>G c.16A>G (p.Asn6Asp) c.2953A>G (p.Asn985Asp) n.1260A>G c.2923A>G (p.Asn975Asp) c.2338A>G (p.Asn780Asp) c.3049A>G (p.Asn1017Asp) c.2275A>G (p.Asn759Asp) c.2242A>G (p.Asn748Asp) n.3276A>G c.2455A>G (p.Asn819Asp) n.3270A>G | |
X | g.53241846T>G | CA413149308 | IQSEC2 | c.3112A>C (p.Asn1038His) c.905A>C c.414A>C c.243A>C c.16A>C (p.Asn6His) c.2953A>C (p.Asn985His) n.1260A>C c.2923A>C (p.Asn975His) c.2338A>C (p.Asn780His) c.3049A>C (p.Asn1017His) c.2275A>C (p.Asn759His) c.2242A>C (p.Asn748His) n.3276A>C c.2455A>C (p.Asn819His) n.3270A>C | |
X | g.53241847T>A | CA516424942 | IQSEC2 | c.3111A>T (p.Pro1037=) c.904A>T c.413A>T c.242A>T c.15A>T (p.Pro5=) c.2952A>T (p.Pro984=) n.1259A>T c.2922A>T (p.Pro974=) c.2337A>T (p.Pro779=) c.3048A>T (p.Pro1016=) c.2274A>T (p.Pro758=) c.2241A>T (p.Pro747=) n.3275A>T c.2454A>T (p.Pro818=) n.3269A>T | |
X | g.53241847T>C | CA516424946 | IQSEC2 | c.3111A>G (p.Pro1037=) c.904A>G c.413A>G c.242A>G c.15A>G (p.Pro5=) c.2952A>G (p.Pro984=) n.1259A>G c.2922A>G (p.Pro974=) c.2337A>G (p.Pro779=) c.3048A>G (p.Pro1016=) c.2274A>G (p.Pro758=) c.2241A>G (p.Pro747=) n.3275A>G c.2454A>G (p.Pro818=) n.3269A>G | |
X | g.53241847T>G | CA10419871 | IQSEC2 | c.3111A>C (p.Pro1037=) c.904A>C c.413A>C c.242A>C c.15A>C (p.Pro5=) c.2952A>C (p.Pro984=) n.1259A>C c.2922A>C (p.Pro974=) c.2337A>C (p.Pro779=) c.3048A>C (p.Pro1016=) c.2274A>C (p.Pro758=) c.2241A>C (p.Pro747=) n.3275A>C c.2454A>C (p.Pro818=) n.3269A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53241847T= | CA2429772817 | IQSEC2 | c.3111A= (p.Pro1037=) c.904A= c.413A= c.242A= c.15A= (p.Pro5=) c.2952A= (p.Pro984=) n.1259A= c.2922A= (p.Pro974=) c.2337A= (p.Pro779=) c.3048A= (p.Pro1016=) c.2274A= (p.Pro758=) c.2241A= (p.Pro747=) n.3275A= c.2454A= (p.Pro818=) n.3269A= | |
X | g.53241848G>A | CA413149316 | IQSEC2 | c.3110C>T (p.Pro1037Leu) c.903C>T c.412C>T c.241C>T c.14C>T (p.Pro5Leu) c.2951C>T (p.Pro984Leu) n.1258C>T c.2921C>T (p.Pro974Leu) c.2336C>T (p.Pro779Leu) c.3047C>T (p.Pro1016Leu) c.2273C>T (p.Pro758Leu) c.2240C>T (p.Pro747Leu) n.3274C>T c.2453C>T (p.Pro818Leu) n.3268C>T | |
X | g.53241848G>C | CA413149317 | IQSEC2 | c.3110C>G (p.Pro1037Arg) c.903C>G c.412C>G c.241C>G c.14C>G (p.Pro5Arg) c.2951C>G (p.Pro984Arg) n.1258C>G c.2921C>G (p.Pro974Arg) c.2336C>G (p.Pro779Arg) c.3047C>G (p.Pro1016Arg) c.2273C>G (p.Pro758Arg) c.2240C>G (p.Pro747Arg) n.3274C>G c.2453C>G (p.Pro818Arg) n.3268C>G | gnomAD v4 |
X | g.53241848G>T | CA413149318 | IQSEC2 | c.3110C>A (p.Pro1037Gln) c.903C>A c.412C>A c.241C>A c.14C>A (p.Pro5Gln) c.2951C>A (p.Pro984Gln) n.1258C>A c.2921C>A (p.Pro974Gln) c.2336C>A (p.Pro779Gln) c.3047C>A (p.Pro1016Gln) c.2273C>A (p.Pro758Gln) c.2240C>A (p.Pro747Gln) n.3274C>A c.2453C>A (p.Pro818Gln) n.3268C>A | |
X | g.53241849G>A | CA413149320 | IQSEC2 | c.3109C>T (p.Pro1037Ser) c.902C>T c.411C>T c.240C>T c.13C>T (p.Pro5Ser) c.2950C>T (p.Pro984Ser) n.1257C>T c.2920C>T (p.Pro974Ser) c.2335C>T (p.Pro779Ser) c.3046C>T (p.Pro1016Ser) c.2272C>T (p.Pro758Ser) c.2239C>T (p.Pro747Ser) n.3273C>T c.2452C>T (p.Pro818Ser) n.3267C>T | |
X | g.53241849G>C | CA413149321 | IQSEC2 | c.3109C>G (p.Pro1037Ala) c.902C>G c.411C>G c.240C>G c.13C>G (p.Pro5Ala) c.2950C>G (p.Pro984Ala) n.1257C>G c.2920C>G (p.Pro974Ala) c.2335C>G (p.Pro779Ala) c.3046C>G (p.Pro1016Ala) c.2272C>G (p.Pro758Ala) c.2239C>G (p.Pro747Ala) n.3273C>G c.2452C>G (p.Pro818Ala) n.3267C>G | |
X | g.53241849G>T | CA413149323 | IQSEC2 | c.3109C>A (p.Pro1037Thr) c.902C>A c.411C>A c.240C>A c.13C>A (p.Pro5Thr) c.2950C>A (p.Pro984Thr) n.1257C>A c.2920C>A (p.Pro974Thr) c.2335C>A (p.Pro779Thr) c.3046C>A (p.Pro1016Thr) c.2272C>A (p.Pro758Thr) c.2239C>A (p.Pro747Thr) n.3273C>A c.2452C>A (p.Pro818Thr) n.3267C>A | |
X | g.53241850A>C | CA413149327 | IQSEC2 | c.3108T>G (p.Asp1036Glu) c.901T>G c.410T>G c.239T>G c.12T>G (p.Asp4Glu) c.2949T>G (p.Asp983Glu) n.1256T>G c.2919T>G (p.Asp973Glu) c.2334T>G (p.Asp778Glu) c.3045T>G (p.Asp1015Glu) c.2271T>G (p.Asp757Glu) c.2238T>G (p.Asp746Glu) n.3272T>G c.2451T>G (p.Asp817Glu) n.3266T>G | |
X | g.53241850A>G | CA516424969 | IQSEC2 | c.3108T>C (p.Asp1036=) c.901T>C c.410T>C c.239T>C c.12T>C (p.Asp4=) c.2949T>C (p.Asp983=) n.1256T>C c.2919T>C (p.Asp973=) c.2334T>C (p.Asp778=) c.3045T>C (p.Asp1015=) c.2271T>C (p.Asp757=) c.2238T>C (p.Asp746=) n.3272T>C c.2451T>C (p.Asp817=) n.3266T>C | ClinVar |
X | g.53241850A>T | CA413149329 | IQSEC2 | c.3108T>A (p.Asp1036Glu) c.901T>A c.410T>A c.239T>A c.12T>A (p.Asp4Glu) c.2949T>A (p.Asp983Glu) n.1256T>A c.2919T>A (p.Asp973Glu) c.2334T>A (p.Asp778Glu) c.3045T>A (p.Asp1015Glu) c.2271T>A (p.Asp757Glu) c.2238T>A (p.Asp746Glu) n.3272T>A c.2451T>A (p.Asp817Glu) n.3266T>A | |
X | g.53241851T>A | CA413149342 | IQSEC2 | c.3107A>T (p.Asp1036Val) c.900A>T c.409A>T c.238A>T c.11A>T (p.Asp4Val) c.2948A>T (p.Asp983Val) n.1255A>T c.2918A>T (p.Asp973Val) c.2333A>T (p.Asp778Val) c.3044A>T (p.Asp1015Val) c.2270A>T (p.Asp757Val) c.2237A>T (p.Asp746Val) n.3271A>T c.2450A>T (p.Asp817Val) n.3265A>T | |
X | g.53241851T>C | CA413149345 | IQSEC2 | c.3107A>G (p.Asp1036Gly) c.900A>G c.409A>G c.238A>G c.11A>G (p.Asp4Gly) c.2948A>G (p.Asp983Gly) n.1255A>G c.2918A>G (p.Asp973Gly) c.2333A>G (p.Asp778Gly) c.3044A>G (p.Asp1015Gly) c.2270A>G (p.Asp757Gly) c.2237A>G (p.Asp746Gly) n.3271A>G c.2450A>G (p.Asp817Gly) n.3265A>G | |
X | g.53241851T>G | CA413149348 | IQSEC2 | c.3107A>C (p.Asp1036Ala) c.900A>C c.409A>C c.238A>C c.11A>C (p.Asp4Ala) c.2948A>C (p.Asp983Ala) n.1255A>C c.2918A>C (p.Asp973Ala) c.2333A>C (p.Asp778Ala) c.3044A>C (p.Asp1015Ala) c.2270A>C (p.Asp757Ala) c.2237A>C (p.Asp746Ala) n.3271A>C c.2450A>C (p.Asp817Ala) n.3265A>C | |
X | g.53241852C>A | CA413149357 | IQSEC2 | c.3106G>T (p.Asp1036Tyr) c.899G>T c.408G>T c.237G>T c.10G>T (p.Asp4Tyr) c.2947G>T (p.Asp983Tyr) n.1254G>T c.2917G>T (p.Asp973Tyr) c.2332G>T (p.Asp778Tyr) c.3043G>T (p.Asp1015Tyr) c.2269G>T (p.Asp757Tyr) c.2236G>T (p.Asp746Tyr) n.3270G>T c.2449G>T (p.Asp817Tyr) n.3264G>T | |
X | g.53241852C>G | CA413149355 | IQSEC2 | c.3106G>C (p.Asp1036His) c.899G>C c.408G>C c.237G>C c.10G>C (p.Asp4His) c.2947G>C (p.Asp983His) n.1254G>C c.2917G>C (p.Asp973His) c.2332G>C (p.Asp778His) c.3043G>C (p.Asp1015His) c.2269G>C (p.Asp757His) c.2236G>C (p.Asp746His) n.3270G>C c.2449G>C (p.Asp817His) n.3264G>C | |
X | g.53241852C>T | CA413149354 | IQSEC2 | c.3106G>A (p.Asp1036Asn) c.899G>A c.408G>A c.237G>A c.10G>A (p.Asp4Asn) c.2947G>A (p.Asp983Asn) n.1254G>A c.2917G>A (p.Asp973Asn) c.2332G>A (p.Asp778Asn) c.3043G>A (p.Asp1015Asn) c.2269G>A (p.Asp757Asn) c.2236G>A (p.Asp746Asn) n.3270G>A c.2449G>A (p.Asp817Asn) n.3264G>A | |
X | g.53241853T>A | CA516424993 | IQSEC2 | c.3105A>T (p.Pro1035=) c.898A>T c.407A>T c.236A>T c.9A>T (p.Pro3=) c.2946A>T (p.Pro982=) n.1253A>T c.2916A>T (p.Pro972=) c.2331A>T (p.Pro777=) c.3042A>T (p.Pro1014=) c.2268A>T (p.Pro756=) c.2235A>T (p.Pro745=) n.3269A>T c.2448A>T (p.Pro816=) n.3263A>T | |
X | g.53241853T>C | CA516424995 | IQSEC2 | c.3105A>G (p.Pro1035=) c.898A>G c.407A>G c.236A>G c.9A>G (p.Pro3=) c.2946A>G (p.Pro982=) n.1253A>G c.2916A>G (p.Pro972=) c.2331A>G (p.Pro777=) c.3042A>G (p.Pro1014=) c.2268A>G (p.Pro756=) c.2235A>G (p.Pro745=) n.3269A>G c.2448A>G (p.Pro816=) n.3263A>G | |
X | g.53241853T>G | CA516424997 | IQSEC2 | c.3105A>C (p.Pro1035=) c.898A>C c.407A>C c.236A>C c.9A>C (p.Pro3=) c.2946A>C (p.Pro982=) n.1253A>C c.2916A>C (p.Pro972=) c.2331A>C (p.Pro777=) c.3042A>C (p.Pro1014=) c.2268A>C (p.Pro756=) c.2235A>C (p.Pro745=) n.3269A>C c.2448A>C (p.Pro816=) n.3263A>C | |
X | g.53241854G>A | CA413149360 | IQSEC2 | c.3104C>T (p.Pro1035Leu) c.897C>T c.406C>T c.235C>T c.8C>T (p.Pro3Leu) c.2945C>T (p.Pro982Leu) n.1252C>T c.2915C>T (p.Pro972Leu) c.2330C>T (p.Pro777Leu) c.3041C>T (p.Pro1014Leu) c.2267C>T (p.Pro756Leu) c.2234C>T (p.Pro745Leu) n.3268C>T c.2447C>T (p.Pro816Leu) n.3262C>T | |
X | g.53241854G>C | CA413149361 | IQSEC2 | c.3104C>G (p.Pro1035Arg) c.897C>G c.406C>G c.235C>G c.8C>G (p.Pro3Arg) c.2945C>G (p.Pro982Arg) n.1252C>G c.2915C>G (p.Pro972Arg) c.2330C>G (p.Pro777Arg) c.3041C>G (p.Pro1014Arg) c.2267C>G (p.Pro756Arg) c.2234C>G (p.Pro745Arg) n.3268C>G c.2447C>G (p.Pro816Arg) n.3262C>G | |
X | g.53241854G>T | CA413149362 | IQSEC2 | c.3104C>A (p.Pro1035Gln) c.897C>A c.406C>A c.235C>A c.8C>A (p.Pro3Gln) c.2945C>A (p.Pro982Gln) n.1252C>A c.2915C>A (p.Pro972Gln) c.2330C>A (p.Pro777Gln) c.3041C>A (p.Pro1014Gln) c.2267C>A (p.Pro756Gln) c.2234C>A (p.Pro745Gln) n.3268C>A c.2447C>A (p.Pro816Gln) n.3262C>A | |
X | g.53241855G>A | CA413149365 | IQSEC2 | c.3103C>T (p.Pro1035Ser) c.896C>T c.405C>T c.234C>T c.7C>T (p.Pro3Ser) c.2944C>T (p.Pro982Ser) n.1251C>T c.2914C>T (p.Pro972Ser) c.2329C>T (p.Pro777Ser) c.3040C>T (p.Pro1014Ser) c.2266C>T (p.Pro756Ser) c.2233C>T (p.Pro745Ser) n.3267C>T c.2446C>T (p.Pro816Ser) n.3261C>T | |
X | g.53241855G>C | CA413149369 | IQSEC2 | c.3103C>G (p.Pro1035Ala) c.896C>G c.405C>G c.234C>G c.7C>G (p.Pro3Ala) c.2944C>G (p.Pro982Ala) n.1251C>G c.2914C>G (p.Pro972Ala) c.2329C>G (p.Pro777Ala) c.3040C>G (p.Pro1014Ala) c.2266C>G (p.Pro756Ala) c.2233C>G (p.Pro745Ala) n.3267C>G c.2446C>G (p.Pro816Ala) n.3261C>G | |
X | g.53241855G>T | CA413149372 | IQSEC2 | c.3103C>A (p.Pro1035Thr) c.896C>A c.405C>A c.234C>A c.7C>A (p.Pro3Thr) c.2944C>A (p.Pro982Thr) n.1251C>A c.2914C>A (p.Pro972Thr) c.2329C>A (p.Pro777Thr) c.3040C>A (p.Pro1014Thr) c.2266C>A (p.Pro756Thr) c.2233C>A (p.Pro745Thr) n.3267C>A c.2446C>A (p.Pro816Thr) n.3261C>A | |
X | g.53241856C>A | CA516425010 | IQSEC2 | c.3102G>T (p.Val1034=) c.895G>T c.404G>T c.233G>T c.6G>T (p.Val2=) c.2943G>T (p.Val981=) n.1250G>T c.2913G>T (p.Val971=) c.2328G>T (p.Val776=) c.3039G>T (p.Val1013=) c.2265G>T (p.Val755=) c.2232G>T (p.Val744=) n.3266G>T c.2445G>T (p.Val815=) n.3260G>T | |
X | g.53241856C>G | CA516425013 | IQSEC2 | c.3102G>C (p.Val1034=) c.895G>C c.404G>C c.233G>C c.6G>C (p.Val2=) c.2943G>C (p.Val981=) n.1250G>C c.2913G>C (p.Val971=) c.2328G>C (p.Val776=) c.3039G>C (p.Val1013=) c.2265G>C (p.Val755=) c.2232G>C (p.Val744=) n.3266G>C c.2445G>C (p.Val815=) n.3260G>C | |
X | g.53241856C>T | CA516425011 | IQSEC2 | c.3102G>A (p.Val1034=) c.895G>A c.404G>A c.233G>A c.6G>A (p.Val2=) c.2943G>A (p.Val981=) n.1250G>A c.2913G>A (p.Val971=) c.2328G>A (p.Val776=) c.3039G>A (p.Val1013=) c.2265G>A (p.Val755=) c.2232G>A (p.Val744=) n.3266G>A c.2445G>A (p.Val815=) n.3260G>A | ClinVar |
X | g.53241857A>C | CA413149390 | IQSEC2 | c.3101T>G (p.Val1034Gly) c.894T>G c.403T>G c.232T>G c.5T>G (p.Val2Gly) c.2942T>G (p.Val981Gly) n.1249T>G c.2912T>G (p.Val971Gly) c.2327T>G (p.Val776Gly) c.3038T>G (p.Val1013Gly) c.2264T>G (p.Val755Gly) c.2231T>G (p.Val744Gly) n.3265T>G c.2444T>G (p.Val815Gly) n.3259T>G | |
X | g.53241857A>G | CA413149378 | IQSEC2 | c.3101T>C (p.Val1034Ala) c.894T>C c.403T>C c.232T>C c.5T>C (p.Val2Ala) c.2942T>C (p.Val981Ala) n.1249T>C c.2912T>C (p.Val971Ala) c.2327T>C (p.Val776Ala) c.3038T>C (p.Val1013Ala) c.2264T>C (p.Val755Ala) c.2231T>C (p.Val744Ala) n.3265T>C c.2444T>C (p.Val815Ala) n.3259T>C | |
X | g.53241857A>T | CA413149387 | IQSEC2 | c.3101T>A (p.Val1034Glu) c.894T>A c.403T>A c.232T>A c.5T>A (p.Val2Glu) c.2942T>A (p.Val981Glu) n.1249T>A c.2912T>A (p.Val971Glu) c.2327T>A (p.Val776Glu) c.3038T>A (p.Val1013Glu) c.2264T>A (p.Val755Glu) c.2231T>A (p.Val744Glu) n.3265T>A c.2444T>A (p.Val815Glu) n.3259T>A | |
X | g.53241858C>A | CA413149395 | IQSEC2 | c.3100G>T (p.Val1034Leu) c.893G>T c.402G>T c.231G>T c.4G>T (p.Val2Leu) c.2941G>T (p.Val981Leu) n.1248G>T c.2911G>T (p.Val971Leu) c.2326G>T (p.Val776Leu) c.3037G>T (p.Val1013Leu) c.2263G>T (p.Val755Leu) c.2230G>T (p.Val744Leu) n.3264G>T c.2443G>T (p.Val815Leu) n.3258G>T | ClinVar dbSNP gnomAD v4 |
X | g.53241858C= | CA2429772818 | IQSEC2 | c.3100G= (p.Val1034=) c.893G= c.402G= c.231G= c.4G= (p.Val2=) c.2941G= (p.Val981=) n.1248G= c.2911G= (p.Val971=) c.2326G= (p.Val776=) c.3037G= (p.Val1013=) c.2263G= (p.Val755=) c.2230G= (p.Val744=) n.3264G= c.2443G= (p.Val815=) n.3258G= | |
X | g.53241858C>G | CA413149399 | IQSEC2 | c.3100G>C (p.Val1034Leu) c.893G>C c.402G>C c.231G>C c.4G>C (p.Val2Leu) c.2941G>C (p.Val981Leu) n.1248G>C c.2911G>C (p.Val971Leu) c.2326G>C (p.Val776Leu) c.3037G>C (p.Val1013Leu) c.2263G>C (p.Val755Leu) c.2230G>C (p.Val744Leu) n.3264G>C c.2443G>C (p.Val815Leu) n.3258G>C | |
X | g.53241858C>T | CA10419872 | IQSEC2 | c.3100G>A (p.Val1034Met) c.893G>A c.402G>A c.231G>A c.4G>A (p.Val2Met) c.2941G>A (p.Val981Met) n.1248G>A c.2911G>A (p.Val971Met) c.2326G>A (p.Val776Met) c.3037G>A (p.Val1013Met) c.2263G>A (p.Val755Met) c.2230G>A (p.Val744Met) n.3264G>A c.2443G>A (p.Val815Met) n.3258G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53241859C>A | CA413149405 | IQSEC2 | c.3099G>T (p.Glu1033Asp) c.892G>T c.401G>T c.230G>T c.3G>T (p.Glu1Asp) c.2940G>T (p.Glu980Asp) n.1247G>T c.2910G>T (p.Glu970Asp) c.2325G>T (p.Glu775Asp) c.3036G>T (p.Glu1012Asp) c.2262G>T (p.Glu754Asp) c.2229G>T (p.Glu743Asp) n.3263G>T c.2442G>T (p.Glu814Asp) n.3257G>T | |
X | g.53241859C= | CA2429772819 | IQSEC2 | c.3099G= (p.Glu1033=) c.892G= c.401G= c.230G= c.3G= (p.Glu1=) c.2940G= (p.Glu980=) n.1247G= c.2910G= (p.Glu970=) c.2325G= (p.Glu775=) c.3036G= (p.Glu1012=) c.2262G= (p.Glu754=) c.2229G= (p.Glu743=) n.3263G= c.2442G= (p.Glu814=) n.3257G= | |
X | g.53241859C>G | CA413149412 | IQSEC2 | c.3099G>C (p.Glu1033Asp) c.892G>C c.401G>C c.230G>C c.3G>C (p.Glu1Asp) c.2940G>C (p.Glu980Asp) n.1247G>C c.2910G>C (p.Glu970Asp) c.2325G>C (p.Glu775Asp) c.3036G>C (p.Glu1012Asp) c.2262G>C (p.Glu754Asp) c.2229G>C (p.Glu743Asp) n.3263G>C c.2442G>C (p.Glu814Asp) n.3257G>C | |
X | g.53241859C>T | CA329164037 | IQSEC2 | c.3099G>A (p.Glu1033=) c.892G>A c.401G>A c.230G>A c.3G>A (p.Glu1=) c.2940G>A (p.Glu980=) n.1247G>A c.2910G>A (p.Glu970=) c.2325G>A (p.Glu775=) c.3036G>A (p.Glu1012=) c.2262G>A (p.Glu754=) c.2229G>A (p.Glu743=) n.3263G>A c.2442G>A (p.Glu814=) n.3257G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53241860T>A | CA413149415 | IQSEC2 | c.3098A>T (p.Glu1033Val) c.891A>T c.400A>T c.229A>T c.2A>T (p.Glu1Val) c.2939A>T (p.Glu980Val) n.1246A>T c.2909A>T (p.Glu970Val) c.2324A>T (p.Glu775Val) c.3035A>T (p.Glu1012Val) c.2261A>T (p.Glu754Val) c.2228A>T (p.Glu743Val) n.3262A>T c.2441A>T (p.Glu814Val) n.3256A>T | |
X | g.53241860T>C | CA413149420 | IQSEC2 | c.3098A>G (p.Glu1033Gly) c.891A>G c.400A>G c.229A>G c.2A>G (p.Glu1Gly) c.2939A>G (p.Glu980Gly) n.1246A>G c.2909A>G (p.Glu970Gly) c.2324A>G (p.Glu775Gly) c.3035A>G (p.Glu1012Gly) c.2261A>G (p.Glu754Gly) c.2228A>G (p.Glu743Gly) n.3262A>G c.2441A>G (p.Glu814Gly) n.3256A>G | |
X | g.53241860T>G | CA413149416 | IQSEC2 | c.3098A>C (p.Glu1033Ala) c.891A>C c.400A>C c.229A>C c.2A>C (p.Glu1Ala) c.2939A>C (p.Glu980Ala) n.1246A>C c.2909A>C (p.Glu970Ala) c.2324A>C (p.Glu775Ala) c.3035A>C (p.Glu1012Ala) c.2261A>C (p.Glu754Ala) c.2228A>C (p.Glu743Ala) n.3262A>C c.2441A>C (p.Glu814Ala) n.3256A>C | |
X | g.53241861C>A | CA413149424 | IQSEC2 | c.3097G>T (p.Glu1033Ter) c.890G>T c.399G>T c.228G>T c.1G>T (p.Glu1Ter) c.2938G>T (p.Glu980Ter) n.1245G>T c.2908G>T (p.Glu970Ter) c.2323G>T (p.Glu775Ter) c.3034G>T (p.Glu1012Ter) c.2260G>T (p.Glu754Ter) c.2227G>T (p.Glu743Ter) n.3261G>T c.2440G>T (p.Glu814Ter) n.3255G>T | |
X | g.53241861C= | CA2429772820 | IQSEC2 | c.3097G= (p.Glu1033=) c.890G= c.399G= c.228G= c.1G= (p.Glu1=) c.2938G= (p.Glu980=) n.1245G= c.2908G= (p.Glu970=) c.2323G= (p.Glu775=) c.3034G= (p.Glu1012=) c.2260G= (p.Glu754=) c.2227G= (p.Glu743=) n.3261G= c.2440G= (p.Glu814=) n.3255G= | |
X | g.53241861C>G | CA413149428 | IQSEC2 | c.3097G>C (p.Glu1033Gln) c.890G>C c.399G>C c.228G>C c.1G>C (p.Glu1Gln) c.2938G>C (p.Glu980Gln) n.1245G>C c.2908G>C (p.Glu970Gln) c.2323G>C (p.Glu775Gln) c.3034G>C (p.Glu1012Gln) c.2260G>C (p.Glu754Gln) c.2227G>C (p.Glu743Gln) n.3261G>C c.2440G>C (p.Glu814Gln) n.3255G>C | |
X | g.53241861C>T | CA413149435 | IQSEC2 | c.3097G>A (p.Glu1033Lys) c.890G>A c.399G>A c.228G>A c.1G>A (p.Glu1Lys) c.2938G>A (p.Glu980Lys) n.1245G>A c.2908G>A (p.Glu970Lys) c.2323G>A (p.Glu775Lys) c.3034G>A (p.Glu1012Lys) c.2260G>A (p.Glu754Lys) c.2227G>A (p.Glu743Lys) n.3261G>A c.2440G>A (p.Glu814Lys) n.3255G>A | dbSNP gnomAD v2 |
X | g.53241862G>A | CA10419873 | IQSEC2 | c.3096C>T (p.Tyr1032=) c.889C>T c.398C>T c.227C>T c.2937C>T (p.Tyr979=) n.1244C>T c.2907C>T (p.Tyr969=) c.2322C>T (p.Tyr774=) c.3033C>T (p.Tyr1011=) c.2259C>T (p.Tyr753=) c.2226C>T (p.Tyr742=) n.3260C>T c.2439C>T (p.Tyr813=) n.3254C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
X | g.53241862G>C | CA413149440 | IQSEC2 | c.3096C>G (p.Tyr1032Ter) c.889C>G c.398C>G c.227C>G c.2937C>G (p.Tyr979Ter) n.1244C>G c.2907C>G (p.Tyr969Ter) c.2322C>G (p.Tyr774Ter) c.3033C>G (p.Tyr1011Ter) c.2259C>G (p.Tyr753Ter) c.2226C>G (p.Tyr742Ter) n.3260C>G c.2439C>G (p.Tyr813Ter) n.3254C>G | |
X | g.53241862G= | CA2429772821 | IQSEC2 | c.3096C= (p.Tyr1032=) c.889C= c.398C= c.227C= c.2937C= (p.Tyr979=) n.1244C= c.2907C= (p.Tyr969=) c.2322C= (p.Tyr774=) c.3033C= (p.Tyr1011=) c.2259C= (p.Tyr753=) c.2226C= (p.Tyr742=) n.3260C= c.2439C= (p.Tyr813=) n.3254C= | |
X | g.53241862G>T | CA413149446 | IQSEC2 | c.3096C>A (p.Tyr1032Ter) c.889C>A c.398C>A c.227C>A c.2937C>A (p.Tyr979Ter) n.1244C>A c.2907C>A (p.Tyr969Ter) c.2322C>A (p.Tyr774Ter) c.3033C>A (p.Tyr1011Ter) c.2259C>A (p.Tyr753Ter) c.2226C>A (p.Tyr742Ter) n.3260C>A c.2439C>A (p.Tyr813Ter) n.3254C>A | |
X | g.53241863T>A | CA413149448 | IQSEC2 | c.3095A>T (p.Tyr1032Phe) c.888A>T c.397A>T c.226A>T c.2936A>T (p.Tyr979Phe) n.1243A>T c.2906A>T (p.Tyr969Phe) c.2321A>T (p.Tyr774Phe) c.3032A>T (p.Tyr1011Phe) c.2258A>T (p.Tyr753Phe) c.2225A>T (p.Tyr742Phe) n.3259A>T c.2438A>T (p.Tyr813Phe) n.3253A>T | |
X | g.53241863T>C | CA413149451 | IQSEC2 | c.3095A>G (p.Tyr1032Cys) c.888A>G c.397A>G c.226A>G c.2936A>G (p.Tyr979Cys) n.1243A>G c.2906A>G (p.Tyr969Cys) c.2321A>G (p.Tyr774Cys) c.3032A>G (p.Tyr1011Cys) c.2258A>G (p.Tyr753Cys) c.2225A>G (p.Tyr742Cys) n.3259A>G c.2438A>G (p.Tyr813Cys) n.3253A>G | gnomAD v4 |
X | g.53241863T>G | CA413149454 | IQSEC2 | c.3095A>C (p.Tyr1032Ser) c.888A>C c.397A>C c.226A>C c.2936A>C (p.Tyr979Ser) n.1243A>C c.2906A>C (p.Tyr969Ser) c.2321A>C (p.Tyr774Ser) c.3032A>C (p.Tyr1011Ser) c.2258A>C (p.Tyr753Ser) c.2225A>C (p.Tyr742Ser) n.3259A>C c.2438A>C (p.Tyr813Ser) n.3253A>C | |
X | g.53241864A>C | CA413149459 | IQSEC2 | c.3094T>G (p.Tyr1032Asp) c.887T>G c.396T>G c.225T>G c.2935T>G (p.Tyr979Asp) n.1242T>G c.2905T>G (p.Tyr969Asp) c.2320T>G (p.Tyr774Asp) c.3031T>G (p.Tyr1011Asp) c.2257T>G (p.Tyr753Asp) c.2224T>G (p.Tyr742Asp) n.3258T>G c.2437T>G (p.Tyr813Asp) n.3252T>G | |
X | g.53241864A>G | CA413149461 | IQSEC2 | c.3094T>C (p.Tyr1032His) c.887T>C c.396T>C c.225T>C c.2935T>C (p.Tyr979His) n.1242T>C c.2905T>C (p.Tyr969His) c.2320T>C (p.Tyr774His) c.3031T>C (p.Tyr1011His) c.2257T>C (p.Tyr753His) c.2224T>C (p.Tyr742His) n.3258T>C c.2437T>C (p.Tyr813His) n.3252T>C | COSMIC COSMIC COSMIC |
X | g.53241864A>T | CA413149464 | IQSEC2 | c.3094T>A (p.Tyr1032Asn) c.887T>A c.396T>A c.225T>A c.2935T>A (p.Tyr979Asn) n.1242T>A c.2905T>A (p.Tyr969Asn) c.2320T>A (p.Tyr774Asn) c.3031T>A (p.Tyr1011Asn) c.2257T>A (p.Tyr753Asn) c.2224T>A (p.Tyr742Asn) n.3258T>A c.2437T>A (p.Tyr813Asn) n.3252T>A | |
X | g.53241865G>A | CA516425081 | IQSEC2 | c.3093C>T (p.Leu1031=) c.886C>T c.395C>T c.224C>T c.2934C>T (p.Leu978=) n.1241C>T c.2904C>T (p.Leu968=) c.2319C>T (p.Leu773=) c.3030C>T (p.Leu1010=) c.2256C>T (p.Leu752=) c.2223C>T (p.Leu741=) n.3257C>T c.2436C>T (p.Leu812=) n.3251C>T | |
X | g.53241865G>C | CA516425083 | IQSEC2 | c.3093C>G (p.Leu1031=) c.886C>G c.395C>G c.224C>G c.2934C>G (p.Leu978=) n.1241C>G c.2904C>G (p.Leu968=) c.2319C>G (p.Leu773=) c.3030C>G (p.Leu1010=) c.2256C>G (p.Leu752=) c.2223C>G (p.Leu741=) n.3257C>G c.2436C>G (p.Leu812=) n.3251C>G | |
X | g.53241865G>T | CA516425084 | IQSEC2 | c.3093C>A (p.Leu1031=) c.886C>A c.395C>A c.224C>A c.2934C>A (p.Leu978=) n.1241C>A c.2904C>A (p.Leu968=) c.2319C>A (p.Leu773=) c.3030C>A (p.Leu1010=) c.2256C>A (p.Leu752=) c.2223C>A (p.Leu741=) n.3257C>A c.2436C>A (p.Leu812=) n.3251C>A | COSMIC COSMIC COSMIC |
X | g.53241866A>C | CA413149475 | IQSEC2 | c.3092T>G (p.Leu1031Arg) c.885T>G c.394T>G c.223T>G c.2933T>G (p.Leu978Arg) n.1240T>G c.2903T>G (p.Leu968Arg) c.2318T>G (p.Leu773Arg) c.3029T>G (p.Leu1010Arg) c.2255T>G (p.Leu752Arg) c.2222T>G (p.Leu741Arg) n.3256T>G c.2435T>G (p.Leu812Arg) n.3250T>G | |
X | g.53241866A>G | CA413149477 | IQSEC2 | c.3092T>C (p.Leu1031Pro) c.885T>C c.394T>C c.223T>C c.2933T>C (p.Leu978Pro) n.1240T>C c.2903T>C (p.Leu968Pro) c.2318T>C (p.Leu773Pro) c.3029T>C (p.Leu1010Pro) c.2255T>C (p.Leu752Pro) c.2222T>C (p.Leu741Pro) n.3256T>C c.2435T>C (p.Leu812Pro) n.3250T>C | |
X | g.53241866A>T | CA413149469 | IQSEC2 | c.3092T>A (p.Leu1031His) c.885T>A c.394T>A c.223T>A c.2933T>A (p.Leu978His) n.1240T>A c.2903T>A (p.Leu968His) c.2318T>A (p.Leu773His) c.3029T>A (p.Leu1010His) c.2255T>A (p.Leu752His) c.2222T>A (p.Leu741His) n.3256T>A c.2435T>A (p.Leu812His) n.3250T>A | |
X | g.53241867G>A | CA413149493 | IQSEC2 | c.3091C>T (p.Leu1031Phe) c.884C>T c.393C>T c.222C>T c.2932C>T (p.Leu978Phe) n.1239C>T c.2902C>T (p.Leu968Phe) c.2317C>T (p.Leu773Phe) c.3028C>T (p.Leu1010Phe) c.2254C>T (p.Leu752Phe) c.2221C>T (p.Leu741Phe) n.3255C>T c.2434C>T (p.Leu812Phe) n.3249C>T | |
X | g.53241867G>C | CA413149482 | IQSEC2 | c.3091C>G (p.Leu1031Val) c.884C>G c.393C>G c.222C>G c.2932C>G (p.Leu978Val) n.1239C>G c.2902C>G (p.Leu968Val) c.2317C>G (p.Leu773Val) c.3028C>G (p.Leu1010Val) c.2254C>G (p.Leu752Val) c.2221C>G (p.Leu741Val) n.3255C>G c.2434C>G (p.Leu812Val) n.3249C>G | |
X | g.53241867G>T | CA413149496 | IQSEC2 | c.3091C>A (p.Leu1031Ile) c.884C>A c.393C>A c.222C>A c.2932C>A (p.Leu978Ile) n.1239C>A c.2902C>A (p.Leu968Ile) c.2317C>A (p.Leu773Ile) c.3028C>A (p.Leu1010Ile) c.2254C>A (p.Leu752Ile) c.2221C>A (p.Leu741Ile) n.3255C>A c.2434C>A (p.Leu812Ile) n.3249C>A | |
X | g.53241868C>A | CA413149501 | IQSEC2 | c.3090G>T (p.Gln1030His) c.883G>T c.392G>T c.221G>T c.2931G>T (p.Gln977His) n.1238G>T c.2901G>T (p.Gln967His) c.2316G>T (p.Gln772His) c.3027G>T (p.Gln1009His) c.2253G>T (p.Gln751His) c.2220G>T (p.Gln740His) n.3254G>T c.2433G>T (p.Gln811His) n.3248G>T | |
X | g.53241868C= | CA2429772822 | IQSEC2 | c.3090G= (p.Gln1030=) c.883G= c.392G= c.221G= c.2931G= (p.Gln977=) n.1238G= c.2901G= (p.Gln967=) c.2316G= (p.Gln772=) c.3027G= (p.Gln1009=) c.2253G= (p.Gln751=) c.2220G= (p.Gln740=) n.3254G= c.2433G= (p.Gln811=) n.3248G= | |
X | g.53241868C>G | CA413149507 | IQSEC2 | c.3090G>C (p.Gln1030His) c.883G>C c.392G>C c.221G>C c.2931G>C (p.Gln977His) n.1238G>C c.2901G>C (p.Gln967His) c.2316G>C (p.Gln772His) c.3027G>C (p.Gln1009His) c.2253G>C (p.Gln751His) c.2220G>C (p.Gln740His) n.3254G>C c.2433G>C (p.Gln811His) n.3248G>C | |
X | g.53241868C>T | CA10419874 | IQSEC2 | c.3090G>A (p.Gln1030=) c.883G>A c.392G>A c.221G>A c.2931G>A (p.Gln977=) n.1238G>A c.2901G>A (p.Gln967=) c.2316G>A (p.Gln772=) c.3027G>A (p.Gln1009=) c.2253G>A (p.Gln751=) c.2220G>A (p.Gln740=) n.3254G>A c.2433G>A (p.Gln811=) n.3248G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53241869T>A | CA413149510 | IQSEC2 | c.3089A>T (p.Gln1030Leu) c.882A>T c.391A>T c.220A>T c.2930A>T (p.Gln977Leu) n.1237A>T c.2900A>T (p.Gln967Leu) c.2315A>T (p.Gln772Leu) c.3026A>T (p.Gln1009Leu) c.2252A>T (p.Gln751Leu) c.2219A>T (p.Gln740Leu) n.3253A>T c.2432A>T (p.Gln811Leu) n.3247A>T | |
X | g.53241869T>C | CA413149514 | IQSEC2 | c.3089A>G (p.Gln1030Arg) c.882A>G c.391A>G c.220A>G c.2930A>G (p.Gln977Arg) n.1237A>G c.2900A>G (p.Gln967Arg) c.2315A>G (p.Gln772Arg) c.3026A>G (p.Gln1009Arg) c.2252A>G (p.Gln751Arg) c.2219A>G (p.Gln740Arg) n.3253A>G c.2432A>G (p.Gln811Arg) n.3247A>G | |
X | g.53241869T>G | CA413149517 | IQSEC2 | c.3089A>C (p.Gln1030Pro) c.882A>C c.391A>C c.220A>C c.2930A>C (p.Gln977Pro) n.1237A>C c.2900A>C (p.Gln967Pro) c.2315A>C (p.Gln772Pro) c.3026A>C (p.Gln1009Pro) c.2252A>C (p.Gln751Pro) c.2219A>C (p.Gln740Pro) n.3253A>C c.2432A>C (p.Gln811Pro) n.3247A>C | |
X | g.53241870G>A | CA413149520 | IQSEC2 | c.3088C>T (p.Gln1030Ter) c.881C>T c.390C>T c.219C>T c.2929C>T (p.Gln977Ter) n.1236C>T c.2899C>T (p.Gln967Ter) c.2314C>T (p.Gln772Ter) c.3025C>T (p.Gln1009Ter) c.2251C>T (p.Gln751Ter) c.2218C>T (p.Gln740Ter) n.3252C>T c.2431C>T (p.Gln811Ter) n.3246C>T | |
X | g.53241870G>C | CA413149523 | IQSEC2 | c.3088C>G (p.Gln1030Glu) c.881C>G c.390C>G c.219C>G c.2929C>G (p.Gln977Glu) n.1236C>G c.2899C>G (p.Gln967Glu) c.2314C>G (p.Gln772Glu) c.3025C>G (p.Gln1009Glu) c.2251C>G (p.Gln751Glu) c.2218C>G (p.Gln740Glu) n.3252C>G c.2431C>G (p.Gln811Glu) n.3246C>G | |
X | g.53241870G>T | CA413149526 | IQSEC2 | c.3088C>A (p.Gln1030Lys) c.881C>A c.390C>A c.219C>A c.2929C>A (p.Gln977Lys) n.1236C>A c.2899C>A (p.Gln967Lys) c.2314C>A (p.Gln772Lys) c.3025C>A (p.Gln1009Lys) c.2251C>A (p.Gln751Lys) c.2218C>A (p.Gln740Lys) n.3252C>A c.2431C>A (p.Gln811Lys) n.3246C>A | |
X | g.53241871G>A | CA516425115 | IQSEC2 | c.3087C>T (p.Cys1029=) c.880C>T c.389C>T c.218C>T c.2928C>T (p.Cys976=) n.1235C>T c.2898C>T (p.Cys966=) c.2313C>T (p.Cys771=) c.3024C>T (p.Cys1008=) c.2250C>T (p.Cys750=) c.2217C>T (p.Cys739=) n.3251C>T c.2430C>T (p.Cys810=) n.3245C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53241871G>C | CA413149530 | IQSEC2 | c.3087C>G (p.Cys1029Trp) c.880C>G c.389C>G c.218C>G c.2928C>G (p.Cys976Trp) n.1235C>G c.2898C>G (p.Cys966Trp) c.2313C>G (p.Cys771Trp) c.3024C>G (p.Cys1008Trp) c.2250C>G (p.Cys750Trp) c.2217C>G (p.Cys739Trp) n.3251C>G c.2430C>G (p.Cys810Trp) n.3245C>G | |
X | g.53241871G= | CA2429772823 | IQSEC2 | c.3087C= (p.Cys1029=) c.880C= c.389C= c.218C= c.2928C= (p.Cys976=) n.1235C= c.2898C= (p.Cys966=) c.2313C= (p.Cys771=) c.3024C= (p.Cys1008=) c.2250C= (p.Cys750=) c.2217C= (p.Cys739=) n.3251C= c.2430C= (p.Cys810=) n.3245C= | |
X | g.53241871G>T | CA413149533 | IQSEC2 | c.3087C>A (p.Cys1029Ter) c.880C>A c.389C>A c.218C>A c.2928C>A (p.Cys976Ter) n.1235C>A c.2898C>A (p.Cys966Ter) c.2313C>A (p.Cys771Ter) c.3024C>A (p.Cys1008Ter) c.2250C>A (p.Cys750Ter) c.2217C>A (p.Cys739Ter) n.3251C>A c.2430C>A (p.Cys810Ter) n.3245C>A | |
X | g.53241872C>A | CA413149538 | IQSEC2 | c.3086G>T (p.Cys1029Phe) c.879G>T c.388G>T c.217G>T c.2927G>T (p.Cys976Phe) n.1234G>T c.2897G>T (p.Cys966Phe) c.2312G>T (p.Cys771Phe) c.3023G>T (p.Cys1008Phe) c.2249G>T (p.Cys750Phe) c.2216G>T (p.Cys739Phe) n.3250G>T c.2429G>T (p.Cys810Phe) n.3244G>T | |
X | g.53241872C>G | CA413149540 | IQSEC2 | c.3086G>C (p.Cys1029Ser) c.879G>C c.388G>C c.217G>C c.2927G>C (p.Cys976Ser) n.1234G>C c.2897G>C (p.Cys966Ser) c.2312G>C (p.Cys771Ser) c.3023G>C (p.Cys1008Ser) c.2249G>C (p.Cys750Ser) c.2216G>C (p.Cys739Ser) n.3250G>C c.2429G>C (p.Cys810Ser) n.3244G>C | |
X | g.53241872C>T | CA413149545 | IQSEC2 | c.3086G>A (p.Cys1029Tyr) c.879G>A c.388G>A c.217G>A c.2927G>A (p.Cys976Tyr) n.1234G>A c.2897G>A (p.Cys966Tyr) c.2312G>A (p.Cys771Tyr) c.3023G>A (p.Cys1008Tyr) c.2249G>A (p.Cys750Tyr) c.2216G>A (p.Cys739Tyr) n.3250G>A c.2429G>A (p.Cys810Tyr) n.3244G>A | |
X | g.53241873A>C | CA413149548 | IQSEC2 | c.3085T>G (p.Cys1029Gly) c.878T>G c.387T>G c.216T>G c.2926T>G (p.Cys976Gly) n.1233T>G c.2896T>G (p.Cys966Gly) c.2311T>G (p.Cys771Gly) c.3022T>G (p.Cys1008Gly) c.2248T>G (p.Cys750Gly) c.2215T>G (p.Cys739Gly) n.3249T>G c.2428T>G (p.Cys810Gly) n.3243T>G | |
X | g.53241873A>G | CA413149551 | IQSEC2 | c.3085T>C (p.Cys1029Arg) c.878T>C c.387T>C c.216T>C c.2926T>C (p.Cys976Arg) n.1233T>C c.2896T>C (p.Cys966Arg) c.2311T>C (p.Cys771Arg) c.3022T>C (p.Cys1008Arg) c.2248T>C (p.Cys750Arg) c.2215T>C (p.Cys739Arg) n.3249T>C c.2428T>C (p.Cys810Arg) n.3243T>C | |
X | g.53241873A>T | CA413149554 | IQSEC2 | c.3085T>A (p.Cys1029Ser) c.878T>A c.387T>A c.216T>A c.2926T>A (p.Cys976Ser) n.1233T>A c.2896T>A (p.Cys966Ser) c.2311T>A (p.Cys771Ser) c.3022T>A (p.Cys1008Ser) c.2248T>A (p.Cys750Ser) c.2215T>A (p.Cys739Ser) n.3249T>A c.2428T>A (p.Cys810Ser) n.3243T>A | |
X | g.53241874G>A | CA516425141 | IQSEC2 | c.3084C>T (p.Cys1028=) c.877C>T c.386C>T c.215C>T c.2925C>T (p.Cys975=) n.1232C>T c.2895C>T (p.Cys965=) c.2310C>T (p.Cys770=) c.3021C>T (p.Cys1007=) c.2247C>T (p.Cys749=) c.2214C>T (p.Cys738=) n.3248C>T c.2427C>T (p.Cys809=) n.3242C>T | |
X | g.53241874G>C | CA413149561 | IQSEC2 | c.3084C>G (p.Cys1028Trp) c.877C>G c.386C>G c.215C>G c.2925C>G (p.Cys975Trp) n.1232C>G c.2895C>G (p.Cys965Trp) c.2310C>G (p.Cys770Trp) c.3021C>G (p.Cys1007Trp) c.2247C>G (p.Cys749Trp) c.2214C>G (p.Cys738Trp) n.3248C>G c.2427C>G (p.Cys809Trp) n.3242C>G | |
X | g.53241874G>T | CA413149558 | IQSEC2 | c.3084C>A (p.Cys1028Ter) c.877C>A c.386C>A c.215C>A c.2925C>A (p.Cys975Ter) n.1232C>A c.2895C>A (p.Cys965Ter) c.2310C>A (p.Cys770Ter) c.3021C>A (p.Cys1007Ter) c.2247C>A (p.Cys749Ter) c.2214C>A (p.Cys738Ter) n.3248C>A c.2427C>A (p.Cys809Ter) n.3242C>A | |
X | g.53241875C>A | CA413149566 | IQSEC2 | c.3083G>T (p.Cys1028Phe) c.876G>T c.385G>T c.214G>T c.2924G>T (p.Cys975Phe) n.1231G>T c.2894G>T (p.Cys965Phe) c.2309G>T (p.Cys770Phe) c.3020G>T (p.Cys1007Phe) c.2246G>T (p.Cys749Phe) c.2213G>T (p.Cys738Phe) n.3247G>T c.2426G>T (p.Cys809Phe) n.3241G>T | |
X | g.53241875C= | CA2429772824 | IQSEC2 | c.3083G= (p.Cys1028=) c.876G= c.385G= c.214G= c.2924G= (p.Cys975=) n.1231G= c.2894G= (p.Cys965=) c.2309G= (p.Cys770=) c.3020G= (p.Cys1007=) c.2246G= (p.Cys749=) c.2213G= (p.Cys738=) n.3247G= c.2426G= (p.Cys809=) n.3241G= | |
X | g.53241875C>G | CA413149568 | IQSEC2 | c.3083G>C (p.Cys1028Ser) c.876G>C c.385G>C c.214G>C c.2924G>C (p.Cys975Ser) n.1231G>C c.2894G>C (p.Cys965Ser) c.2309G>C (p.Cys770Ser) c.3020G>C (p.Cys1007Ser) c.2246G>C (p.Cys749Ser) c.2213G>C (p.Cys738Ser) n.3247G>C c.2426G>C (p.Cys809Ser) n.3241G>C | |
X | g.53241875C>T | CA413149571 | IQSEC2 | c.3083G>A (p.Cys1028Tyr) c.876G>A c.385G>A c.214G>A c.2924G>A (p.Cys975Tyr) n.1231G>A c.2894G>A (p.Cys965Tyr) c.2309G>A (p.Cys770Tyr) c.3020G>A (p.Cys1007Tyr) c.2246G>A (p.Cys749Tyr) c.2213G>A (p.Cys738Tyr) n.3247G>A c.2426G>A (p.Cys809Tyr) n.3241G>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.53241876A>C | CA413149575 | IQSEC2 | c.3082T>G (p.Cys1028Gly) c.875T>G c.384T>G c.213T>G c.2923T>G (p.Cys975Gly) n.1230T>G c.2893T>G (p.Cys965Gly) c.2308T>G (p.Cys770Gly) c.3019T>G (p.Cys1007Gly) c.2245T>G (p.Cys749Gly) c.2212T>G (p.Cys738Gly) n.3246T>G c.2425T>G (p.Cys809Gly) n.3240T>G | |
X | g.53241876A>G | CA413149578 | IQSEC2 | c.3082T>C (p.Cys1028Arg) c.875T>C c.384T>C c.213T>C c.2923T>C (p.Cys975Arg) n.1230T>C c.2893T>C (p.Cys965Arg) c.2308T>C (p.Cys770Arg) c.3019T>C (p.Cys1007Arg) c.2245T>C (p.Cys749Arg) c.2212T>C (p.Cys738Arg) n.3246T>C c.2425T>C (p.Cys809Arg) n.3240T>C | COSMIC COSMIC COSMIC |
X | g.53241876A>T | CA413149580 | IQSEC2 | c.3082T>A (p.Cys1028Ser) c.875T>A c.384T>A c.213T>A c.2923T>A (p.Cys975Ser) n.1230T>A c.2893T>A (p.Cys965Ser) c.2308T>A (p.Cys770Ser) c.3019T>A (p.Cys1007Ser) c.2245T>A (p.Cys749Ser) c.2212T>A (p.Cys738Ser) n.3246T>A c.2425T>A (p.Cys809Ser) n.3240T>A | |
X | g.53241877G>A | CA516425158 | IQSEC2 | c.3081C>T (p.Cys1027=) c.874C>T c.383C>T c.212C>T c.2922C>T (p.Cys974=) n.1229C>T c.2892C>T (p.Cys964=) c.2307C>T (p.Cys769=) c.3018C>T (p.Cys1006=) c.2244C>T (p.Cys748=) c.2211C>T (p.Cys737=) n.3245C>T c.2424C>T (p.Cys808=) n.3239C>T | |
X | g.53241877G>C | CA413149588 | IQSEC2 | c.3081C>G (p.Cys1027Trp) c.874C>G c.383C>G c.212C>G c.2922C>G (p.Cys974Trp) n.1229C>G c.2892C>G (p.Cys964Trp) c.2307C>G (p.Cys769Trp) c.3018C>G (p.Cys1006Trp) c.2244C>G (p.Cys748Trp) c.2211C>G (p.Cys737Trp) n.3245C>G c.2424C>G (p.Cys808Trp) n.3239C>G | |
X | g.53241877G>T | CA413149585 | IQSEC2 | c.3081C>A (p.Cys1027Ter) c.874C>A c.383C>A c.212C>A c.2922C>A (p.Cys974Ter) n.1229C>A c.2892C>A (p.Cys964Ter) c.2307C>A (p.Cys769Ter) c.3018C>A (p.Cys1006Ter) c.2244C>A (p.Cys748Ter) c.2211C>A (p.Cys737Ter) n.3245C>A c.2424C>A (p.Cys808Ter) n.3239C>A | |
X | g.53241878C>A | CA413149592 | IQSEC2 | c.3080G>T (p.Cys1027Phe) c.873G>T c.382G>T c.211G>T c.2921G>T (p.Cys974Phe) n.1228G>T c.2891G>T (p.Cys964Phe) c.2306G>T (p.Cys769Phe) c.3017G>T (p.Cys1006Phe) c.2243G>T (p.Cys748Phe) c.2210G>T (p.Cys737Phe) n.3244G>T c.2423G>T (p.Cys808Phe) n.3238G>T | |
X | g.53241878C>G | CA413149595 | IQSEC2 | c.3080G>C (p.Cys1027Ser) c.873G>C c.382G>C c.211G>C c.2921G>C (p.Cys974Ser) n.1228G>C c.2891G>C (p.Cys964Ser) c.2306G>C (p.Cys769Ser) c.3017G>C (p.Cys1006Ser) c.2243G>C (p.Cys748Ser) c.2210G>C (p.Cys737Ser) n.3244G>C c.2423G>C (p.Cys808Ser) n.3238G>C | |
X | g.53241878C>T | CA413149599 | IQSEC2 | c.3080G>A (p.Cys1027Tyr) c.873G>A c.382G>A c.211G>A c.2921G>A (p.Cys974Tyr) n.1228G>A c.2891G>A (p.Cys964Tyr) c.2306G>A (p.Cys769Tyr) c.3017G>A (p.Cys1006Tyr) c.2243G>A (p.Cys748Tyr) c.2210G>A (p.Cys737Tyr) n.3244G>A c.2423G>A (p.Cys808Tyr) n.3238G>A | |
X | g.53241879A>C | CA413149604 | IQSEC2 | c.3079T>G (p.Cys1027Gly) c.872T>G c.381T>G c.210T>G c.2920T>G (p.Cys974Gly) n.1227T>G c.2890T>G (p.Cys964Gly) c.2305T>G (p.Cys769Gly) c.3016T>G (p.Cys1006Gly) c.2242T>G (p.Cys748Gly) c.2209T>G (p.Cys737Gly) n.3243T>G c.2422T>G (p.Cys808Gly) n.3237T>G | |
X | g.53241879A>G | CA413149608 | IQSEC2 | c.3079T>C (p.Cys1027Arg) c.872T>C c.381T>C c.210T>C c.2920T>C (p.Cys974Arg) n.1227T>C c.2890T>C (p.Cys964Arg) c.2305T>C (p.Cys769Arg) c.3016T>C (p.Cys1006Arg) c.2242T>C (p.Cys748Arg) c.2209T>C (p.Cys737Arg) n.3243T>C c.2422T>C (p.Cys808Arg) n.3237T>C | |
X | g.53241879A>T | CA413149612 | IQSEC2 | c.3079T>A (p.Cys1027Ser) c.872T>A c.381T>A c.210T>A c.2920T>A (p.Cys974Ser) n.1227T>A c.2890T>A (p.Cys964Ser) c.2305T>A (p.Cys769Ser) c.3016T>A (p.Cys1006Ser) c.2242T>A (p.Cys748Ser) c.2209T>A (p.Cys737Ser) n.3243T>A c.2422T>A (p.Cys808Ser) n.3237T>A | |
X | g.53241880A>C | CA516425193 | IQSEC2 | c.3078T>G (p.Val1026=) c.871T>G c.380T>G c.209T>G c.2919T>G (p.Val973=) n.1226T>G c.2889T>G (p.Val963=) c.2304T>G (p.Val768=) c.3015T>G (p.Val1005=) c.2241T>G (p.Val747=) c.2208T>G (p.Val736=) n.3242T>G c.2421T>G (p.Val807=) n.3236T>G | |
X | g.53241880A>G | CA516425194 | IQSEC2 | c.3078T>C (p.Val1026=) c.871T>C c.380T>C c.209T>C c.2919T>C (p.Val973=) n.1226T>C c.2889T>C (p.Val963=) c.2304T>C (p.Val768=) c.3015T>C (p.Val1005=) c.2241T>C (p.Val747=) c.2208T>C (p.Val736=) n.3242T>C c.2421T>C (p.Val807=) n.3236T>C | |
X | g.53241880A>T | CA516425195 | IQSEC2 | c.3078T>A (p.Val1026=) c.871T>A c.380T>A c.209T>A c.2919T>A (p.Val973=) n.1226T>A c.2889T>A (p.Val963=) c.2304T>A (p.Val768=) c.3015T>A (p.Val1005=) c.2241T>A (p.Val747=) c.2208T>A (p.Val736=) n.3242T>A c.2421T>A (p.Val807=) n.3236T>A | |
X | g.53241881A= | CA2429772825 | IQSEC2 | c.3077T= (p.Val1026=) c.870T= c.379T= c.208T= c.2918T= (p.Val973=) n.1225T= c.2888T= (p.Val963=) c.2303T= (p.Val768=) c.3014T= (p.Val1005=) c.2240T= (p.Val747=) c.2207T= (p.Val736=) n.3241T= c.2420T= (p.Val807=) n.3235T= | |
X | g.53241881A>C | CA413149620 | IQSEC2 | c.3077T>G (p.Val1026Gly) c.870T>G c.379T>G c.208T>G c.2918T>G (p.Val973Gly) n.1225T>G c.2888T>G (p.Val963Gly) c.2303T>G (p.Val768Gly) c.3014T>G (p.Val1005Gly) c.2240T>G (p.Val747Gly) c.2207T>G (p.Val736Gly) n.3241T>G c.2420T>G (p.Val807Gly) n.3235T>G | |
X | g.53241881A>G | CA10419875 | IQSEC2 | c.3077T>C (p.Val1026Ala) c.870T>C c.379T>C c.208T>C c.2918T>C (p.Val973Ala) n.1225T>C c.2888T>C (p.Val963Ala) c.2303T>C (p.Val768Ala) c.3014T>C (p.Val1005Ala) c.2240T>C (p.Val747Ala) c.2207T>C (p.Val736Ala) n.3241T>C c.2420T>C (p.Val807Ala) n.3235T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53241881A>T | CA413149622 | IQSEC2 | c.3077T>A (p.Val1026Asp) c.870T>A c.379T>A c.208T>A c.2918T>A (p.Val973Asp) n.1225T>A c.2888T>A (p.Val963Asp) c.2303T>A (p.Val768Asp) c.3014T>A (p.Val1005Asp) c.2240T>A (p.Val747Asp) c.2207T>A (p.Val736Asp) n.3241T>A c.2420T>A (p.Val807Asp) n.3235T>A | |
X | g.53241882C>A | CA413149630 | IQSEC2 | c.3076G>T (p.Val1026Phe) c.869G>T c.378G>T c.207G>T c.2917G>T (p.Val973Phe) n.1224G>T c.2887G>T (p.Val963Phe) c.2302G>T (p.Val768Phe) c.3013G>T (p.Val1005Phe) c.2239G>T (p.Val747Phe) c.2206G>T (p.Val736Phe) n.3240G>T c.2419G>T (p.Val807Phe) n.3234G>T | |
X | g.53241882C>G | CA413149634 | IQSEC2 | c.3076G>C (p.Val1026Leu) c.869G>C c.378G>C c.207G>C c.2917G>C (p.Val973Leu) n.1224G>C c.2887G>C (p.Val963Leu) c.2302G>C (p.Val768Leu) c.3013G>C (p.Val1005Leu) c.2239G>C (p.Val747Leu) c.2206G>C (p.Val736Leu) n.3240G>C c.2419G>C (p.Val807Leu) n.3234G>C | |
X | g.53241882C>T | CA413149635 | IQSEC2 | c.3076G>A (p.Val1026Ile) c.869G>A c.378G>A c.207G>A c.2917G>A (p.Val973Ile) n.1224G>A c.2887G>A (p.Val963Ile) c.2302G>A (p.Val768Ile) c.3013G>A (p.Val1005Ile) c.2239G>A (p.Val747Ile) c.2206G>A (p.Val736Ile) n.3240G>A c.2419G>A (p.Val807Ile) n.3234G>A | |
X | g.53241883C>A | CA516425216 | IQSEC2 | c.3075G>T (p.Leu1025=) c.868G>T c.377G>T c.206G>T c.2916G>T (p.Leu972=) n.1223G>T c.2886G>T (p.Leu962=) c.2301G>T (p.Leu767=) c.3012G>T (p.Leu1004=) c.2238G>T (p.Leu746=) c.2205G>T (p.Leu735=) n.3239G>T c.2418G>T (p.Leu806=) n.3233G>T | |
X | g.53241883C>G | CA516425221 | IQSEC2 | c.3075G>C (p.Leu1025=) c.868G>C c.377G>C c.206G>C c.2916G>C (p.Leu972=) n.1223G>C c.2886G>C (p.Leu962=) c.2301G>C (p.Leu767=) c.3012G>C (p.Leu1004=) c.2238G>C (p.Leu746=) c.2205G>C (p.Leu735=) n.3239G>C c.2418G>C (p.Leu806=) n.3233G>C | |
X | g.53241883C>T | CA516425219 | IQSEC2 | c.3075G>A (p.Leu1025=) c.868G>A c.377G>A c.206G>A c.2916G>A (p.Leu972=) n.1223G>A c.2886G>A (p.Leu962=) c.2301G>A (p.Leu767=) c.3012G>A (p.Leu1004=) c.2238G>A (p.Leu746=) c.2205G>A (p.Leu735=) n.3239G>A c.2418G>A (p.Leu806=) n.3233G>A | |
X | g.53241884A= | CA2429772826 | IQSEC2 | c.3074T= (p.Leu1025=) c.867T= c.376T= c.205T= c.2915T= (p.Leu972=) n.1222T= c.2885T= (p.Leu962=) c.2300T= (p.Leu767=) c.3011T= (p.Leu1004=) c.2237T= (p.Leu746=) c.2204T= (p.Leu735=) n.3238T= c.2417T= (p.Leu806=) n.3232T= | |
X | g.53241884A>C | CA413149636 | IQSEC2 | c.3074T>G (p.Leu1025Arg) c.867T>G c.376T>G c.205T>G c.2915T>G (p.Leu972Arg) n.1222T>G c.2885T>G (p.Leu962Arg) c.2300T>G (p.Leu767Arg) c.3011T>G (p.Leu1004Arg) c.2237T>G (p.Leu746Arg) c.2204T>G (p.Leu735Arg) n.3238T>G c.2417T>G (p.Leu806Arg) n.3232T>G | |
X | g.53241884A>G | CA413149637 | IQSEC2 | c.3074T>C (p.Leu1025Pro) c.867T>C c.376T>C c.205T>C c.2915T>C (p.Leu972Pro) n.1222T>C c.2885T>C (p.Leu962Pro) c.2300T>C (p.Leu767Pro) c.3011T>C (p.Leu1004Pro) c.2237T>C (p.Leu746Pro) c.2204T>C (p.Leu735Pro) n.3238T>C c.2417T>C (p.Leu806Pro) n.3232T>C | dbSNP |
X | g.53241884A>T | CA413149638 | IQSEC2 | c.3074T>A (p.Leu1025Gln) c.867T>A c.376T>A c.205T>A c.2915T>A (p.Leu972Gln) n.1222T>A c.2885T>A (p.Leu962Gln) c.2300T>A (p.Leu767Gln) c.3011T>A (p.Leu1004Gln) c.2237T>A (p.Leu746Gln) c.2204T>A (p.Leu735Gln) n.3238T>A c.2417T>A (p.Leu806Gln) n.3232T>A | |
X | g.53241885G>A | CA516425236 | IQSEC2 | c.3073C>T (p.Leu1025=) c.866C>T c.375C>T c.204C>T c.2914C>T (p.Leu972=) n.1221C>T c.2884C>T (p.Leu962=) c.2299C>T (p.Leu767=) c.3010C>T (p.Leu1004=) c.2236C>T (p.Leu746=) c.2203C>T (p.Leu735=) n.3237C>T c.2416C>T (p.Leu806=) n.3231C>T | gnomAD v4 |
X | g.53241885G>C | CA413149643 | IQSEC2 | c.3073C>G (p.Leu1025Val) c.866C>G c.375C>G c.204C>G c.2914C>G (p.Leu972Val) n.1221C>G c.2884C>G (p.Leu962Val) c.2299C>G (p.Leu767Val) c.3010C>G (p.Leu1004Val) c.2236C>G (p.Leu746Val) c.2203C>G (p.Leu735Val) n.3237C>G c.2416C>G (p.Leu806Val) n.3231C>G | |
X | g.53241885G>T | CA413149645 | IQSEC2 | c.3073C>A (p.Leu1025Met) c.866C>A c.375C>A c.204C>A c.2914C>A (p.Leu972Met) n.1221C>A c.2884C>A (p.Leu962Met) c.2299C>A (p.Leu767Met) c.3010C>A (p.Leu1004Met) c.2236C>A (p.Leu746Met) c.2203C>A (p.Leu735Met) n.3237C>A c.2416C>A (p.Leu806Met) n.3231C>A | |
X | g.53241886T>A | CA516425250 | IQSEC2 | c.3072A>T (p.Arg1024=) c.865A>T c.374A>T c.203A>T c.2913A>T (p.Arg971=) n.1220A>T c.2883A>T (p.Arg961=) c.2298A>T (p.Arg766=) c.3009A>T (p.Arg1003=) c.2235A>T (p.Arg745=) c.2202A>T (p.Arg734=) n.3236A>T c.2415A>T (p.Arg805=) n.3230A>T | gnomAD v4 |
X | g.53241886T>C | CA516425254 | IQSEC2 | c.3072A>G (p.Arg1024=) c.865A>G c.374A>G c.203A>G c.2913A>G (p.Arg971=) n.1220A>G c.2883A>G (p.Arg961=) c.2298A>G (p.Arg766=) c.3009A>G (p.Arg1003=) c.2235A>G (p.Arg745=) c.2202A>G (p.Arg734=) n.3236A>G c.2415A>G (p.Arg805=) n.3230A>G | |
X | g.53241886T>G | CA516425255 | IQSEC2 | c.3072A>C (p.Arg1024=) c.865A>C c.374A>C c.203A>C c.2913A>C (p.Arg971=) n.1220A>C c.2883A>C (p.Arg961=) c.2298A>C (p.Arg766=) c.3009A>C (p.Arg1003=) c.2235A>C (p.Arg745=) c.2202A>C (p.Arg734=) n.3236A>C c.2415A>C (p.Arg805=) n.3230A>C | |
X | g.53241887C>A | CA413149652 | IQSEC2 | c.3071G>T (p.Arg1024Leu) c.864G>T c.373G>T c.202G>T c.2912G>T (p.Arg971Leu) n.1219G>T c.2882G>T (p.Arg961Leu) c.2297G>T (p.Arg766Leu) c.3008G>T (p.Arg1003Leu) c.2234G>T (p.Arg745Leu) c.2201G>T (p.Arg734Leu) n.3235G>T c.2414G>T (p.Arg805Leu) n.3229G>T | |
X | g.53241887C>G | CA413149659 | IQSEC2 | c.3071G>C (p.Arg1024Pro) c.864G>C c.373G>C c.202G>C c.2912G>C (p.Arg971Pro) n.1219G>C c.2882G>C (p.Arg961Pro) c.2297G>C (p.Arg766Pro) c.3008G>C (p.Arg1003Pro) c.2234G>C (p.Arg745Pro) c.2201G>C (p.Arg734Pro) n.3235G>C c.2414G>C (p.Arg805Pro) n.3229G>C | |
X | g.53241887C>T | CA413149662 | IQSEC2 | c.3071G>A (p.Arg1024Gln) c.864G>A c.373G>A c.202G>A c.2912G>A (p.Arg971Gln) n.1219G>A c.2882G>A (p.Arg961Gln) c.2297G>A (p.Arg766Gln) c.3008G>A (p.Arg1003Gln) c.2234G>A (p.Arg745Gln) c.2201G>A (p.Arg734Gln) n.3235G>A c.2414G>A (p.Arg805Gln) n.3229G>A | |
X | g.53241888G>A | CA413149665 | IQSEC2 | c.3070C>T (p.Arg1024Ter) c.863C>T c.372C>T c.201C>T c.2911C>T (p.Arg971Ter) n.1218C>T c.2881C>T (p.Arg961Ter) c.2296C>T (p.Arg766Ter) c.3007C>T (p.Arg1003Ter) c.2233C>T (p.Arg745Ter) c.2200C>T (p.Arg734Ter) n.3234C>T c.2413C>T (p.Arg805Ter) n.3228C>T | ClinVar dbSNP COSMIC COSMIC COSMIC |
X | g.53241888G>C | CA413149668 | IQSEC2 | c.3070C>G (p.Arg1024Gly) c.863C>G c.372C>G c.201C>G c.2911C>G (p.Arg971Gly) n.1218C>G c.2881C>G (p.Arg961Gly) c.2296C>G (p.Arg766Gly) c.3007C>G (p.Arg1003Gly) c.2233C>G (p.Arg745Gly) c.2200C>G (p.Arg734Gly) n.3234C>G c.2413C>G (p.Arg805Gly) n.3228C>G | |
X | g.53241888G= | CA2429772827 | IQSEC2 | c.3070C= (p.Arg1024=) c.863C= c.372C= c.201C= c.2911C= (p.Arg971=) n.1218C= c.2881C= (p.Arg961=) c.2296C= (p.Arg766=) c.3007C= (p.Arg1003=) c.2233C= (p.Arg745=) c.2200C= (p.Arg734=) n.3234C= c.2413C= (p.Arg805=) n.3228C= | |
X | g.53241888G>T | CA516425260 | IQSEC2 | c.3070C>A (p.Arg1024=) c.863C>A c.372C>A c.201C>A c.2911C>A (p.Arg971=) n.1218C>A c.2881C>A (p.Arg961=) c.2296C>A (p.Arg766=) c.3007C>A (p.Arg1003=) c.2233C>A (p.Arg745=) c.2200C>A (p.Arg734=) n.3234C>A c.2413C>A (p.Arg805=) n.3228C>A | |
X | g.53241889A>C | CA516425261 | IQSEC2 | c.3069T>G (p.Arg1023=) c.862T>G c.371T>G c.200T>G c.2910T>G (p.Arg970=) n.1217T>G c.2880T>G (p.Arg960=) c.2295T>G (p.Arg765=) c.3006T>G (p.Arg1002=) c.2232T>G (p.Arg744=) c.2199T>G (p.Arg733=) n.3233T>G c.2412T>G (p.Arg804=) n.3227T>G | |
X | g.53241889A>G | CA516425263 | IQSEC2 | c.3069T>C (p.Arg1023=) c.862T>C c.371T>C c.200T>C c.2910T>C (p.Arg970=) n.1217T>C c.2880T>C (p.Arg960=) c.2295T>C (p.Arg765=) c.3006T>C (p.Arg1002=) c.2232T>C (p.Arg744=) c.2199T>C (p.Arg733=) n.3233T>C c.2412T>C (p.Arg804=) n.3227T>C | |
X | g.53241889A>T | CA516425266 | IQSEC2 | c.3069T>A (p.Arg1023=) c.862T>A c.371T>A c.200T>A c.2910T>A (p.Arg970=) n.1217T>A c.2880T>A (p.Arg960=) c.2295T>A (p.Arg765=) c.3006T>A (p.Arg1002=) c.2232T>A (p.Arg744=) c.2199T>A (p.Arg733=) n.3233T>A c.2412T>A (p.Arg804=) n.3227T>A | |
X | g.53241890C>A | CA413149681 | IQSEC2 | c.3068G>T (p.Arg1023Leu) c.861G>T c.370G>T c.199G>T c.2909G>T (p.Arg970Leu) n.1216G>T c.2879G>T (p.Arg960Leu) c.2294G>T (p.Arg765Leu) c.3005G>T (p.Arg1002Leu) c.2231G>T (p.Arg744Leu) c.2198G>T (p.Arg733Leu) n.3232G>T c.2411G>T (p.Arg804Leu) n.3226G>T | |
X | g.53241890C= | CA2429772828 | IQSEC2 | c.3068G= (p.Arg1023=) c.861G= c.370G= c.199G= c.2909G= (p.Arg970=) n.1216G= c.2879G= (p.Arg960=) c.2294G= (p.Arg765=) c.3005G= (p.Arg1002=) c.2231G= (p.Arg744=) c.2198G= (p.Arg733=) n.3232G= c.2411G= (p.Arg804=) n.3226G= | |
X | g.53241890C>G | CA413149672 | IQSEC2 | c.3068G>C (p.Arg1023Pro) c.861G>C c.370G>C c.199G>C c.2909G>C (p.Arg970Pro) n.1216G>C c.2879G>C (p.Arg960Pro) c.2294G>C (p.Arg765Pro) c.3005G>C (p.Arg1002Pro) c.2231G>C (p.Arg744Pro) c.2198G>C (p.Arg733Pro) n.3232G>C c.2411G>C (p.Arg804Pro) n.3226G>C | |
X | g.53241890C>T | CA413149676 | IQSEC2 | c.3068G>A (p.Arg1023His) c.861G>A c.370G>A c.199G>A c.2909G>A (p.Arg970His) n.1216G>A c.2879G>A (p.Arg960His) c.2294G>A (p.Arg765His) c.3005G>A (p.Arg1002His) c.2231G>A (p.Arg744His) c.2198G>A (p.Arg733His) n.3232G>A c.2411G>A (p.Arg804His) n.3226G>A | ClinVar dbSNP |
X | g.53241891G>A | CA413149688 | IQSEC2 | c.3067C>T (p.Arg1023Cys) c.860C>T c.369C>T c.198C>T c.2908C>T (p.Arg970Cys) n.1215C>T c.2878C>T (p.Arg960Cys) c.2293C>T (p.Arg765Cys) c.3004C>T (p.Arg1002Cys) c.2230C>T (p.Arg744Cys) c.2197C>T (p.Arg733Cys) n.3231C>T c.2410C>T (p.Arg804Cys) n.3225C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53241891G>C | CA413149691 | IQSEC2 | c.3067C>G (p.Arg1023Gly) c.860C>G c.369C>G c.198C>G c.2908C>G (p.Arg970Gly) n.1215C>G c.2878C>G (p.Arg960Gly) c.2293C>G (p.Arg765Gly) c.3004C>G (p.Arg1002Gly) c.2230C>G (p.Arg744Gly) c.2197C>G (p.Arg733Gly) n.3231C>G c.2410C>G (p.Arg804Gly) n.3225C>G | |
X | g.53241891G= | CA2429772829 | IQSEC2 | c.3067C= (p.Arg1023=) c.860C= c.369C= c.198C= c.2908C= (p.Arg970=) n.1215C= c.2878C= (p.Arg960=) c.2293C= (p.Arg765=) c.3004C= (p.Arg1002=) c.2230C= (p.Arg744=) c.2197C= (p.Arg733=) n.3231C= c.2410C= (p.Arg804=) n.3225C= | |
X | g.53241891G>T | CA413149693 | IQSEC2 | c.3067C>A (p.Arg1023Ser) c.860C>A c.369C>A c.198C>A c.2908C>A (p.Arg970Ser) n.1215C>A c.2878C>A (p.Arg960Ser) c.2293C>A (p.Arg765Ser) c.3004C>A (p.Arg1002Ser) c.2230C>A (p.Arg744Ser) c.2197C>A (p.Arg733Ser) n.3231C>A c.2410C>A (p.Arg804Ser) n.3225C>A | |
X | g.53241892G>A | CA516425282 | IQSEC2 | c.3066C>T (p.His1022=) c.859C>T c.368C>T c.197C>T c.2907C>T (p.His969=) n.1214C>T c.2877C>T (p.His959=) c.2292C>T (p.His764=) c.3003C>T (p.His1001=) c.2229C>T (p.His743=) c.2196C>T (p.His732=) n.3230C>T c.2409C>T (p.His803=) n.3224C>T | gnomAD v4 |
X | g.53241892G>C | CA413149695 | IQSEC2 | c.3066C>G (p.His1022Gln) c.859C>G c.368C>G c.197C>G c.2907C>G (p.His969Gln) n.1214C>G c.2877C>G (p.His959Gln) c.2292C>G (p.His764Gln) c.3003C>G (p.His1001Gln) c.2229C>G (p.His743Gln) c.2196C>G (p.His732Gln) n.3230C>G c.2409C>G (p.His803Gln) n.3224C>G | |
X | g.53241892G>T | CA413149698 | IQSEC2 | c.3066C>A (p.His1022Gln) c.859C>A c.368C>A c.197C>A c.2907C>A (p.His969Gln) n.1214C>A c.2877C>A (p.His959Gln) c.2292C>A (p.His764Gln) c.3003C>A (p.His1001Gln) c.2229C>A (p.His743Gln) c.2196C>A (p.His732Gln) n.3230C>A c.2409C>A (p.His803Gln) n.3224C>A | COSMIC COSMIC COSMIC |
X | g.53241893T>A | CA413149702 | IQSEC2 | c.3065A>T (p.His1022Leu) c.858A>T c.367A>T c.196A>T c.2906A>T (p.His969Leu) n.1213A>T c.2876A>T (p.His959Leu) c.2291A>T (p.His764Leu) c.3002A>T (p.His1001Leu) c.2228A>T (p.His743Leu) c.2195A>T (p.His732Leu) n.3229A>T c.2408A>T (p.His803Leu) n.3223A>T | |
X | g.53241893T>C | CA413149706 | IQSEC2 | c.3065A>G (p.His1022Arg) c.858A>G c.367A>G c.196A>G c.2906A>G (p.His969Arg) n.1213A>G c.2876A>G (p.His959Arg) c.2291A>G (p.His764Arg) c.3002A>G (p.His1001Arg) c.2228A>G (p.His743Arg) c.2195A>G (p.His732Arg) n.3229A>G c.2408A>G (p.His803Arg) n.3223A>G | gnomAD v4 |
X | g.53241893T>G | CA413149708 | IQSEC2 | c.3065A>C (p.His1022Pro) c.858A>C c.367A>C c.196A>C c.2906A>C (p.His969Pro) n.1213A>C c.2876A>C (p.His959Pro) c.2291A>C (p.His764Pro) c.3002A>C (p.His1001Pro) c.2228A>C (p.His743Pro) c.2195A>C (p.His732Pro) n.3229A>C c.2408A>C (p.His803Pro) n.3223A>C | |
X | g.53241894G>A | CA413149713 | IQSEC2 | c.3064C>T (p.His1022Tyr) c.857C>T c.366C>T c.195C>T c.2905C>T (p.His969Tyr) n.1212C>T c.2875C>T (p.His959Tyr) c.2290C>T (p.His764Tyr) c.3001C>T (p.His1001Tyr) c.2227C>T (p.His743Tyr) c.2194C>T (p.His732Tyr) n.3228C>T c.2407C>T (p.His803Tyr) n.3222C>T | |
X | g.53241894G>C | CA413149715 | IQSEC2 | c.3064C>G (p.His1022Asp) c.857C>G c.366C>G c.195C>G c.2905C>G (p.His969Asp) n.1212C>G c.2875C>G (p.His959Asp) c.2290C>G (p.His764Asp) c.3001C>G (p.His1001Asp) c.2227C>G (p.His743Asp) c.2194C>G (p.His732Asp) n.3228C>G c.2407C>G (p.His803Asp) n.3222C>G | |
X | g.53241894G>T | CA413149719 | IQSEC2 | c.3064C>A (p.His1022Asn) c.857C>A c.366C>A c.195C>A c.2905C>A (p.His969Asn) n.1212C>A c.2875C>A (p.His959Asn) c.2290C>A (p.His764Asn) c.3001C>A (p.His1001Asn) c.2227C>A (p.His743Asn) c.2194C>A (p.His732Asn) n.3228C>A c.2407C>A (p.His803Asn) n.3222C>A | |
X | g.53241895A>C | CA516425293 | IQSEC2 | c.3063T>G (p.Pro1021=) c.856T>G c.365T>G c.194T>G c.2904T>G (p.Pro968=) n.1211T>G c.2874T>G (p.Pro958=) c.2289T>G (p.Pro763=) c.3000T>G (p.Pro1000=) c.2226T>G (p.Pro742=) c.2193T>G (p.Pro731=) n.3227T>G c.2406T>G (p.Pro802=) n.3221T>G | |
X | g.53241895A>G | CA516425297 | IQSEC2 | c.3063T>C (p.Pro1021=) c.856T>C c.365T>C c.194T>C c.2904T>C (p.Pro968=) n.1211T>C c.2874T>C (p.Pro958=) c.2289T>C (p.Pro763=) c.3000T>C (p.Pro1000=) c.2226T>C (p.Pro742=) c.2193T>C (p.Pro731=) n.3227T>C c.2406T>C (p.Pro802=) n.3221T>C | |
X | g.53241895A>T | CA516425300 | IQSEC2 | c.3063T>A (p.Pro1021=) c.856T>A c.365T>A c.194T>A c.2904T>A (p.Pro968=) n.1211T>A c.2874T>A (p.Pro958=) c.2289T>A (p.Pro763=) c.3000T>A (p.Pro1000=) c.2226T>A (p.Pro742=) c.2193T>A (p.Pro731=) n.3227T>A c.2406T>A (p.Pro802=) n.3221T>A |