Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.67128716T>A | CA400711045 | HELZ | c.3322A>T (p.Ile1108Phe) c.3325A>T (p.Ile1109Phe) c.3403A>T (p.Ile1135Phe) c.3301A>T (p.Ile1101Phe) c.3406A>T (p.Ile1136Phe) c.2701A>T (p.Ile901Phe) c.2230A>T (p.Ile744Phe) n.3397A>T c.2617A>T (p.Ile873Phe) c.2149A>T (p.Ile717Phe) n.3497A>T n.3349A>T n.3265A>T | |
17 | g.67128716T>C | CA16609539 | HELZ | c.3322A>G (p.Ile1108Val) c.3325A>G (p.Ile1109Val) c.3403A>G (p.Ile1135Val) c.3301A>G (p.Ile1101Val) c.3406A>G (p.Ile1136Val) c.2701A>G (p.Ile901Val) c.2230A>G (p.Ile744Val) n.3397A>G c.2617A>G (p.Ile873Val) c.2149A>G (p.Ile717Val) n.3497A>G n.3349A>G n.3265A>G | ClinVar dbSNP |
17 | g.67128716T>G | CA400711046 | HELZ | c.3322A>C (p.Ile1108Leu) c.3325A>C (p.Ile1109Leu) c.3403A>C (p.Ile1135Leu) c.3301A>C (p.Ile1101Leu) c.3406A>C (p.Ile1136Leu) c.2701A>C (p.Ile901Leu) c.2230A>C (p.Ile744Leu) n.3397A>C c.2617A>C (p.Ile873Leu) c.2149A>C (p.Ile717Leu) n.3497A>C n.3349A>C n.3265A>C | |
17 | g.67128716T= | CA2271597997 | HELZ | c.3322A= (p.Ile1108=) c.3325A= (p.Ile1109=) c.3403A= (p.Ile1135=) c.3301A= (p.Ile1101=) c.3406A= (p.Ile1136=) c.2701A= (p.Ile901=) c.2230A= (p.Ile744=) n.3397A= c.2617A= (p.Ile873=) c.2149A= (p.Ile717=) n.3497A= n.3349A= n.3265A= | |
17 | g.67128717A>C | CA400711047 | HELZ | c.3321T>G (p.Phe1107Leu) c.3324T>G (p.Phe1108Leu) c.3402T>G (p.Phe1134Leu) c.3300T>G (p.Phe1100Leu) c.3405T>G (p.Phe1135Leu) c.2700T>G (p.Phe900Leu) c.2229T>G (p.Phe743Leu) n.3396T>G c.2616T>G (p.Phe872Leu) c.2148T>G (p.Phe716Leu) n.3496T>G n.3348T>G n.3264T>G | |
17 | g.67128717A>G | CA501487610 | HELZ | c.3321T>C (p.Phe1107=) c.3324T>C (p.Phe1108=) c.3402T>C (p.Phe1134=) c.3300T>C (p.Phe1100=) c.3405T>C (p.Phe1135=) c.2700T>C (p.Phe900=) c.2229T>C (p.Phe743=) n.3396T>C c.2616T>C (p.Phe872=) c.2148T>C (p.Phe716=) n.3496T>C n.3348T>C n.3264T>C | gnomAD v4 |
17 | g.67128717A>T | CA400711048 | HELZ | c.3321T>A (p.Phe1107Leu) c.3324T>A (p.Phe1108Leu) c.3402T>A (p.Phe1134Leu) c.3300T>A (p.Phe1100Leu) c.3405T>A (p.Phe1135Leu) c.2700T>A (p.Phe900Leu) c.2229T>A (p.Phe743Leu) n.3396T>A c.2616T>A (p.Phe872Leu) c.2148T>A (p.Phe716Leu) n.3496T>A n.3348T>A n.3264T>A | |
17 | g.67128718A>C | CA400711049 | HELZ | c.3320T>G (p.Phe1107Cys) c.3323T>G (p.Phe1108Cys) c.3401T>G (p.Phe1134Cys) c.3299T>G (p.Phe1100Cys) c.3404T>G (p.Phe1135Cys) c.2699T>G (p.Phe900Cys) c.2228T>G (p.Phe743Cys) n.3395T>G c.2615T>G (p.Phe872Cys) c.2147T>G (p.Phe716Cys) n.3495T>G n.3347T>G n.3263T>G | |
17 | g.67128718A>G | CA400711051 | HELZ | c.3320T>C (p.Phe1107Ser) c.3323T>C (p.Phe1108Ser) c.3401T>C (p.Phe1134Ser) c.3299T>C (p.Phe1100Ser) c.3404T>C (p.Phe1135Ser) c.2699T>C (p.Phe900Ser) c.2228T>C (p.Phe743Ser) n.3395T>C c.2615T>C (p.Phe872Ser) c.2147T>C (p.Phe716Ser) n.3495T>C n.3347T>C n.3263T>C | |
17 | g.67128718A>T | CA400711050 | HELZ | c.3320T>A (p.Phe1107Tyr) c.3323T>A (p.Phe1108Tyr) c.3401T>A (p.Phe1134Tyr) c.3299T>A (p.Phe1100Tyr) c.3404T>A (p.Phe1135Tyr) c.2699T>A (p.Phe900Tyr) c.2228T>A (p.Phe743Tyr) n.3395T>A c.2615T>A (p.Phe872Tyr) c.2147T>A (p.Phe716Tyr) n.3495T>A n.3347T>A n.3263T>A | |
17 | g.67128719A>C | CA400711053 | HELZ | c.3319T>G (p.Phe1107Val) c.3322T>G (p.Phe1108Val) c.3400T>G (p.Phe1134Val) c.3298T>G (p.Phe1100Val) c.3403T>G (p.Phe1135Val) c.2698T>G (p.Phe900Val) c.2227T>G (p.Phe743Val) n.3394T>G c.2614T>G (p.Phe872Val) c.2146T>G (p.Phe716Val) n.3494T>G n.3346T>G n.3262T>G | |
17 | g.67128719A>G | CA400711056 | HELZ | c.3319T>C (p.Phe1107Leu) c.3322T>C (p.Phe1108Leu) c.3400T>C (p.Phe1134Leu) c.3298T>C (p.Phe1100Leu) c.3403T>C (p.Phe1135Leu) c.2698T>C (p.Phe900Leu) c.2227T>C (p.Phe743Leu) n.3394T>C c.2614T>C (p.Phe872Leu) c.2146T>C (p.Phe716Leu) n.3494T>C n.3346T>C n.3262T>C | |
17 | g.67128719A>T | CA400711058 | HELZ | c.3319T>A (p.Phe1107Ile) c.3322T>A (p.Phe1108Ile) c.3400T>A (p.Phe1134Ile) c.3298T>A (p.Phe1100Ile) c.3403T>A (p.Phe1135Ile) c.2698T>A (p.Phe900Ile) c.2227T>A (p.Phe743Ile) n.3394T>A c.2614T>A (p.Phe872Ile) c.2146T>A (p.Phe716Ile) n.3494T>A n.3346T>A n.3262T>A | |
17 | g.67128720T>A | CA400711060 | HELZ | c.3318A>T (p.Glu1106Asp) c.3321A>T (p.Glu1107Asp) c.3399A>T (p.Glu1133Asp) c.3297A>T (p.Glu1099Asp) c.3402A>T (p.Glu1134Asp) c.2697A>T (p.Glu899Asp) c.2226A>T (p.Glu742Asp) n.3393A>T c.2613A>T (p.Glu871Asp) c.2145A>T (p.Glu715Asp) n.3493A>T n.3345A>T n.3261A>T | |
17 | g.67128720T>C | CA501487613 | HELZ | c.3318A>G (p.Glu1106=) c.3321A>G (p.Glu1107=) c.3399A>G (p.Glu1133=) c.3297A>G (p.Glu1099=) c.3402A>G (p.Glu1134=) c.2697A>G (p.Glu899=) c.2226A>G (p.Glu742=) n.3393A>G c.2613A>G (p.Glu871=) c.2145A>G (p.Glu715=) n.3493A>G n.3345A>G n.3261A>G | |
17 | g.67128720T>G | CA400711062 | HELZ | c.3318A>C (p.Glu1106Asp) c.3321A>C (p.Glu1107Asp) c.3399A>C (p.Glu1133Asp) c.3297A>C (p.Glu1099Asp) c.3402A>C (p.Glu1134Asp) c.2697A>C (p.Glu899Asp) c.2226A>C (p.Glu742Asp) n.3393A>C c.2613A>C (p.Glu871Asp) c.2145A>C (p.Glu715Asp) n.3493A>C n.3345A>C n.3261A>C | |
17 | g.67128721T>A | CA400711065 | HELZ | c.3317A>T (p.Glu1106Val) c.3320A>T (p.Glu1107Val) c.3398A>T (p.Glu1133Val) c.3296A>T (p.Glu1099Val) c.3401A>T (p.Glu1134Val) c.2696A>T (p.Glu899Val) c.2225A>T (p.Glu742Val) n.3392A>T c.2612A>T (p.Glu871Val) c.2144A>T (p.Glu715Val) n.3492A>T n.3344A>T n.3260A>T | |
17 | g.67128721T>C | CA400711067 | HELZ | c.3317A>G (p.Glu1106Gly) c.3320A>G (p.Glu1107Gly) c.3398A>G (p.Glu1133Gly) c.3296A>G (p.Glu1099Gly) c.3401A>G (p.Glu1134Gly) c.2696A>G (p.Glu899Gly) c.2225A>G (p.Glu742Gly) n.3392A>G c.2612A>G (p.Glu871Gly) c.2144A>G (p.Glu715Gly) n.3492A>G n.3344A>G n.3260A>G | |
17 | g.67128721T>G | CA400711069 | HELZ | c.3317A>C (p.Glu1106Ala) c.3320A>C (p.Glu1107Ala) c.3398A>C (p.Glu1133Ala) c.3296A>C (p.Glu1099Ala) c.3401A>C (p.Glu1134Ala) c.2696A>C (p.Glu899Ala) c.2225A>C (p.Glu742Ala) n.3392A>C c.2612A>C (p.Glu871Ala) c.2144A>C (p.Glu715Ala) n.3492A>C n.3344A>C n.3260A>C | gnomAD v4 |
17 | g.67128722C>A | CA400711071 | HELZ | c.3316G>T (p.Glu1106Ter) c.3319G>T (p.Glu1107Ter) c.3397G>T (p.Glu1133Ter) c.3295G>T (p.Glu1099Ter) c.3400G>T (p.Glu1134Ter) c.2695G>T (p.Glu899Ter) c.2224G>T (p.Glu742Ter) n.3391G>T c.2611G>T (p.Glu871Ter) c.2143G>T (p.Glu715Ter) n.3491G>T n.3343G>T n.3259G>T | |
17 | g.67128722C>G | CA400711073 | HELZ | c.3316G>C (p.Glu1106Gln) c.3319G>C (p.Glu1107Gln) c.3397G>C (p.Glu1133Gln) c.3295G>C (p.Glu1099Gln) c.3400G>C (p.Glu1134Gln) c.2695G>C (p.Glu899Gln) c.2224G>C (p.Glu742Gln) n.3391G>C c.2611G>C (p.Glu871Gln) c.2143G>C (p.Glu715Gln) n.3491G>C n.3343G>C n.3259G>C | |
17 | g.67128722C>T | CA400711076 | HELZ | c.3316G>A (p.Glu1106Lys) c.3319G>A (p.Glu1107Lys) c.3397G>A (p.Glu1133Lys) c.3295G>A (p.Glu1099Lys) c.3400G>A (p.Glu1134Lys) c.2695G>A (p.Glu899Lys) c.2224G>A (p.Glu742Lys) n.3391G>A c.2611G>A (p.Glu871Lys) c.2143G>A (p.Glu715Lys) n.3491G>A n.3343G>A n.3259G>A | |
17 | g.67128723A>C | CA501487615 | HELZ | c.3315T>G (p.Pro1105=) c.3318T>G (p.Pro1106=) c.3396T>G (p.Pro1132=) c.3294T>G (p.Pro1098=) c.3399T>G (p.Pro1133=) c.2694T>G (p.Pro898=) c.2223T>G (p.Pro741=) n.3390T>G c.2610T>G (p.Pro870=) c.2142T>G (p.Pro714=) n.3490T>G n.3342T>G n.3258T>G | |
17 | g.67128723A>G | CA501487617 | HELZ | c.3315T>C (p.Pro1105=) c.3318T>C (p.Pro1106=) c.3396T>C (p.Pro1132=) c.3294T>C (p.Pro1098=) c.3399T>C (p.Pro1133=) c.2694T>C (p.Pro898=) c.2223T>C (p.Pro741=) n.3390T>C c.2610T>C (p.Pro870=) c.2142T>C (p.Pro714=) n.3490T>C n.3342T>C n.3258T>C | |
17 | g.67128723A>T | CA501487616 | HELZ | c.3315T>A (p.Pro1105=) c.3318T>A (p.Pro1106=) c.3396T>A (p.Pro1132=) c.3294T>A (p.Pro1098=) c.3399T>A (p.Pro1133=) c.2694T>A (p.Pro898=) c.2223T>A (p.Pro741=) n.3390T>A c.2610T>A (p.Pro870=) c.2142T>A (p.Pro714=) n.3490T>A n.3342T>A n.3258T>A | |
17 | g.67128724G>A | CA400711080 | HELZ | c.3314C>T (p.Pro1105Leu) c.3317C>T (p.Pro1106Leu) c.3395C>T (p.Pro1132Leu) c.3293C>T (p.Pro1098Leu) c.3398C>T (p.Pro1133Leu) c.2693C>T (p.Pro898Leu) c.2222C>T (p.Pro741Leu) n.3389C>T c.2609C>T (p.Pro870Leu) c.2141C>T (p.Pro714Leu) n.3489C>T n.3341C>T n.3257C>T | |
17 | g.67128724G>C | CA400711082 | HELZ | c.3314C>G (p.Pro1105Arg) c.3317C>G (p.Pro1106Arg) c.3395C>G (p.Pro1132Arg) c.3293C>G (p.Pro1098Arg) c.3398C>G (p.Pro1133Arg) c.2693C>G (p.Pro898Arg) c.2222C>G (p.Pro741Arg) n.3389C>G c.2609C>G (p.Pro870Arg) c.2141C>G (p.Pro714Arg) n.3489C>G n.3341C>G n.3257C>G | |
17 | g.67128724G>T | CA400711078 | HELZ | c.3314C>A (p.Pro1105His) c.3317C>A (p.Pro1106His) c.3395C>A (p.Pro1132His) c.3293C>A (p.Pro1098His) c.3398C>A (p.Pro1133His) c.2693C>A (p.Pro898His) c.2222C>A (p.Pro741His) n.3389C>A c.2609C>A (p.Pro870His) c.2141C>A (p.Pro714His) n.3489C>A n.3341C>A n.3257C>A | |
17 | g.67128725G>A | CA8722779 | HELZ | c.3313C>T (p.Pro1105Ser) c.3316C>T (p.Pro1106Ser) c.3394C>T (p.Pro1132Ser) c.3292C>T (p.Pro1098Ser) c.3397C>T (p.Pro1133Ser) c.2692C>T (p.Pro898Ser) c.2221C>T (p.Pro741Ser) n.3388C>T c.2608C>T (p.Pro870Ser) c.2140C>T (p.Pro714Ser) n.3488C>T n.3340C>T n.3256C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.67128725G>C | CA400711085 | HELZ | c.3313C>G (p.Pro1105Ala) c.3316C>G (p.Pro1106Ala) c.3394C>G (p.Pro1132Ala) c.3292C>G (p.Pro1098Ala) c.3397C>G (p.Pro1133Ala) c.2692C>G (p.Pro898Ala) c.2221C>G (p.Pro741Ala) n.3388C>G c.2608C>G (p.Pro870Ala) c.2140C>G (p.Pro714Ala) n.3488C>G n.3340C>G n.3256C>G | gnomAD v4 |
17 | g.67128725G= | CA2271597998 | HELZ | c.3313C= (p.Pro1105=) c.3316C= (p.Pro1106=) c.3394C= (p.Pro1132=) c.3292C= (p.Pro1098=) c.3397C= (p.Pro1133=) c.2692C= (p.Pro898=) c.2221C= (p.Pro741=) n.3388C= c.2608C= (p.Pro870=) c.2140C= (p.Pro714=) n.3488C= n.3340C= n.3256C= | |
17 | g.67128725G>T | CA400711088 | HELZ | c.3313C>A (p.Pro1105Thr) c.3316C>A (p.Pro1106Thr) c.3394C>A (p.Pro1132Thr) c.3292C>A (p.Pro1098Thr) c.3397C>A (p.Pro1133Thr) c.2692C>A (p.Pro898Thr) c.2221C>A (p.Pro741Thr) n.3388C>A c.2608C>A (p.Pro870Thr) c.2140C>A (p.Pro714Thr) n.3488C>A n.3340C>A n.3256C>A | |
17 | g.67128726T>A | CA501487618 | HELZ | c.3312A>T (p.Ala1104=) c.3315A>T (p.Ala1105=) c.3393A>T (p.Ala1131=) c.3291A>T (p.Ala1097=) c.3396A>T (p.Ala1132=) c.2691A>T (p.Ala897=) c.2220A>T (p.Ala740=) n.3387A>T c.2607A>T (p.Ala869=) c.2139A>T (p.Ala713=) n.3487A>T n.3339A>T n.3255A>T | |
17 | g.67128726T>C | CA501487619 | HELZ | c.3312A>G (p.Ala1104=) c.3315A>G (p.Ala1105=) c.3393A>G (p.Ala1131=) c.3291A>G (p.Ala1097=) c.3396A>G (p.Ala1132=) c.2691A>G (p.Ala897=) c.2220A>G (p.Ala740=) n.3387A>G c.2607A>G (p.Ala869=) c.2139A>G (p.Ala713=) n.3487A>G n.3339A>G n.3255A>G | |
17 | g.67128726T>G | CA501487620 | HELZ | c.3312A>C (p.Ala1104=) c.3315A>C (p.Ala1105=) c.3393A>C (p.Ala1131=) c.3291A>C (p.Ala1097=) c.3396A>C (p.Ala1132=) c.2691A>C (p.Ala897=) c.2220A>C (p.Ala740=) n.3387A>C c.2607A>C (p.Ala869=) c.2139A>C (p.Ala713=) n.3487A>C n.3339A>C n.3255A>C | |
17 | g.67128727G>A | CA400711089 | HELZ | c.3311C>T (p.Ala1104Val) c.3314C>T (p.Ala1105Val) c.3392C>T (p.Ala1131Val) c.3290C>T (p.Ala1097Val) c.3395C>T (p.Ala1132Val) c.2690C>T (p.Ala897Val) c.2219C>T (p.Ala740Val) n.3386C>T c.2606C>T (p.Ala869Val) c.2138C>T (p.Ala713Val) n.3486C>T n.3338C>T n.3254C>T | dbSNP gnomAD v2 |
17 | g.67128727G>C | CA400711093 | HELZ | c.3311C>G (p.Ala1104Gly) c.3314C>G (p.Ala1105Gly) c.3392C>G (p.Ala1131Gly) c.3290C>G (p.Ala1097Gly) c.3395C>G (p.Ala1132Gly) c.2690C>G (p.Ala897Gly) c.2219C>G (p.Ala740Gly) n.3386C>G c.2606C>G (p.Ala869Gly) c.2138C>G (p.Ala713Gly) n.3486C>G n.3338C>G n.3254C>G | |
17 | g.67128727G= | CA2271597999 | HELZ | c.3311C= (p.Ala1104=) c.3314C= (p.Ala1105=) c.3392C= (p.Ala1131=) c.3290C= (p.Ala1097=) c.3395C= (p.Ala1132=) c.2690C= (p.Ala897=) c.2219C= (p.Ala740=) n.3386C= c.2606C= (p.Ala869=) c.2138C= (p.Ala713=) n.3486C= n.3338C= n.3254C= | |
17 | g.67128727G>T | CA400711091 | HELZ | c.3311C>A (p.Ala1104Glu) c.3314C>A (p.Ala1105Glu) c.3392C>A (p.Ala1131Glu) c.3290C>A (p.Ala1097Glu) c.3395C>A (p.Ala1132Glu) c.2690C>A (p.Ala897Glu) c.2219C>A (p.Ala740Glu) n.3386C>A c.2606C>A (p.Ala869Glu) c.2138C>A (p.Ala713Glu) n.3486C>A n.3338C>A n.3254C>A | |
17 | g.67128728C>A | CA400711096 | HELZ | c.3310G>T (p.Ala1104Ser) c.3313G>T (p.Ala1105Ser) c.3391G>T (p.Ala1131Ser) c.3289G>T (p.Ala1097Ser) c.3394G>T (p.Ala1132Ser) c.2689G>T (p.Ala897Ser) c.2218G>T (p.Ala740Ser) n.3385G>T c.2605G>T (p.Ala869Ser) c.2137G>T (p.Ala713Ser) n.3485G>T n.3337G>T n.3253G>T | |
17 | g.67128728C>G | CA400711098 | HELZ | c.3310G>C (p.Ala1104Pro) c.3313G>C (p.Ala1105Pro) c.3391G>C (p.Ala1131Pro) c.3289G>C (p.Ala1097Pro) c.3394G>C (p.Ala1132Pro) c.2689G>C (p.Ala897Pro) c.2218G>C (p.Ala740Pro) n.3385G>C c.2605G>C (p.Ala869Pro) c.2137G>C (p.Ala713Pro) n.3485G>C n.3337G>C n.3253G>C | |
17 | g.67128728C>T | CA400711100 | HELZ | c.3310G>A (p.Ala1104Thr) c.3313G>A (p.Ala1105Thr) c.3391G>A (p.Ala1131Thr) c.3289G>A (p.Ala1097Thr) c.3394G>A (p.Ala1132Thr) c.2689G>A (p.Ala897Thr) c.2218G>A (p.Ala740Thr) n.3385G>A c.2605G>A (p.Ala869Thr) c.2137G>A (p.Ala713Thr) n.3485G>A n.3337G>A n.3253G>A | |
17 | g.67128729C>A | CA501487622 | HELZ | c.3309G>T (p.Leu1103=) c.3312G>T (p.Leu1104=) c.3390G>T (p.Leu1130=) c.3288G>T (p.Leu1096=) c.3393G>T (p.Leu1131=) c.2688G>T (p.Leu896=) c.2217G>T (p.Leu739=) n.3384G>T c.2604G>T (p.Leu868=) c.2136G>T (p.Leu712=) n.3484G>T n.3336G>T n.3252G>T | |
17 | g.67128729C>G | CA501487623 | HELZ | c.3309G>C (p.Leu1103=) c.3312G>C (p.Leu1104=) c.3390G>C (p.Leu1130=) c.3288G>C (p.Leu1096=) c.3393G>C (p.Leu1131=) c.2688G>C (p.Leu896=) c.2217G>C (p.Leu739=) n.3384G>C c.2604G>C (p.Leu868=) c.2136G>C (p.Leu712=) n.3484G>C n.3336G>C n.3252G>C | |
17 | g.67128729C>T | CA501487624 | HELZ | c.3309G>A (p.Leu1103=) c.3312G>A (p.Leu1104=) c.3390G>A (p.Leu1130=) c.3288G>A (p.Leu1096=) c.3393G>A (p.Leu1131=) c.2688G>A (p.Leu896=) c.2217G>A (p.Leu739=) n.3384G>A c.2604G>A (p.Leu868=) c.2136G>A (p.Leu712=) n.3484G>A n.3336G>A n.3252G>A | |
17 | g.67128730A>C | CA400711103 | HELZ | c.3308T>G (p.Leu1103Arg) c.3311T>G (p.Leu1104Arg) c.3389T>G (p.Leu1130Arg) c.3287T>G (p.Leu1096Arg) c.3392T>G (p.Leu1131Arg) c.2687T>G (p.Leu896Arg) c.2216T>G (p.Leu739Arg) n.3383T>G c.2603T>G (p.Leu868Arg) c.2135T>G (p.Leu712Arg) n.3483T>G n.3335T>G n.3251T>G | |
17 | g.67128730A>G | CA400711105 | HELZ | c.3308T>C (p.Leu1103Pro) c.3311T>C (p.Leu1104Pro) c.3389T>C (p.Leu1130Pro) c.3287T>C (p.Leu1096Pro) c.3392T>C (p.Leu1131Pro) c.2687T>C (p.Leu896Pro) c.2216T>C (p.Leu739Pro) n.3383T>C c.2603T>C (p.Leu868Pro) c.2135T>C (p.Leu712Pro) n.3483T>C n.3335T>C n.3251T>C | |
17 | g.67128730A>T | CA400711107 | HELZ | c.3308T>A (p.Leu1103Gln) c.3311T>A (p.Leu1104Gln) c.3389T>A (p.Leu1130Gln) c.3287T>A (p.Leu1096Gln) c.3392T>A (p.Leu1131Gln) c.2687T>A (p.Leu896Gln) c.2216T>A (p.Leu739Gln) n.3383T>A c.2603T>A (p.Leu868Gln) c.2135T>A (p.Leu712Gln) n.3483T>A n.3335T>A n.3251T>A | |
17 | g.67128731G>A | CA501487626 | HELZ | c.3307C>T (p.Leu1103=) c.3310C>T (p.Leu1104=) c.3388C>T (p.Leu1130=) c.3286C>T (p.Leu1096=) c.3391C>T (p.Leu1131=) c.2686C>T (p.Leu896=) c.2215C>T (p.Leu739=) n.3382C>T c.2602C>T (p.Leu868=) c.2134C>T (p.Leu712=) n.3482C>T n.3334C>T n.3250C>T | gnomAD v4 |
17 | g.67128731G>C | CA400711109 | HELZ | c.3307C>G (p.Leu1103Val) c.3310C>G (p.Leu1104Val) c.3388C>G (p.Leu1130Val) c.3286C>G (p.Leu1096Val) c.3391C>G (p.Leu1131Val) c.2686C>G (p.Leu896Val) c.2215C>G (p.Leu739Val) n.3382C>G c.2602C>G (p.Leu868Val) c.2134C>G (p.Leu712Val) n.3482C>G n.3334C>G n.3250C>G | |
17 | g.67128731G>T | CA400711112 | HELZ | c.3307C>A (p.Leu1103Met) c.3310C>A (p.Leu1104Met) c.3388C>A (p.Leu1130Met) c.3286C>A (p.Leu1096Met) c.3391C>A (p.Leu1131Met) c.2686C>A (p.Leu896Met) c.2215C>A (p.Leu739Met) n.3382C>A c.2602C>A (p.Leu868Met) c.2134C>A (p.Leu712Met) n.3482C>A n.3334C>A n.3250C>A | |
17 | g.67128732C>A | CA501487629 | HELZ | c.3306G>T (p.Pro1102=) c.3309G>T (p.Pro1103=) c.3387G>T (p.Pro1129=) c.3285G>T (p.Pro1095=) c.3390G>T (p.Pro1130=) c.2685G>T (p.Pro895=) c.2214G>T (p.Pro738=) n.3381G>T c.2601G>T (p.Pro867=) c.2133G>T (p.Pro711=) n.3481G>T n.3333G>T n.3249G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.67128732C= | CA2271598000 | HELZ | c.3306G= (p.Pro1102=) c.3309G= (p.Pro1103=) c.3387G= (p.Pro1129=) c.3285G= (p.Pro1095=) c.3390G= (p.Pro1130=) c.2685G= (p.Pro895=) c.2214G= (p.Pro738=) n.3381G= c.2601G= (p.Pro867=) c.2133G= (p.Pro711=) n.3481G= n.3333G= n.3249G= | |
17 | g.67128732C>G | CA501487630 | HELZ | c.3306G>C (p.Pro1102=) c.3309G>C (p.Pro1103=) c.3387G>C (p.Pro1129=) c.3285G>C (p.Pro1095=) c.3390G>C (p.Pro1130=) c.2685G>C (p.Pro895=) c.2214G>C (p.Pro738=) n.3381G>C c.2601G>C (p.Pro867=) c.2133G>C (p.Pro711=) n.3481G>C n.3333G>C n.3249G>C | |
17 | g.67128732C>T | CA501487631 | HELZ | c.3306G>A (p.Pro1102=) c.3309G>A (p.Pro1103=) c.3387G>A (p.Pro1129=) c.3285G>A (p.Pro1095=) c.3390G>A (p.Pro1130=) c.2685G>A (p.Pro895=) c.2214G>A (p.Pro738=) n.3381G>A c.2601G>A (p.Pro867=) c.2133G>A (p.Pro711=) n.3481G>A n.3333G>A n.3249G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.67128733G>A | CA400711115 | HELZ | c.3305C>T (p.Pro1102Leu) c.3308C>T (p.Pro1103Leu) c.3386C>T (p.Pro1129Leu) c.3284C>T (p.Pro1095Leu) c.3389C>T (p.Pro1130Leu) c.2684C>T (p.Pro895Leu) c.2213C>T (p.Pro738Leu) n.3380C>T c.2600C>T (p.Pro867Leu) c.2132C>T (p.Pro711Leu) n.3480C>T n.3332C>T n.3248C>T | |
17 | g.67128733G>C | CA400711117 | HELZ | c.3305C>G (p.Pro1102Arg) c.3308C>G (p.Pro1103Arg) c.3386C>G (p.Pro1129Arg) c.3284C>G (p.Pro1095Arg) c.3389C>G (p.Pro1130Arg) c.2684C>G (p.Pro895Arg) c.2213C>G (p.Pro738Arg) n.3380C>G c.2600C>G (p.Pro867Arg) c.2132C>G (p.Pro711Arg) n.3480C>G n.3332C>G n.3248C>G | |
17 | g.67128733G>T | CA400711119 | HELZ | c.3305C>A (p.Pro1102Gln) c.3308C>A (p.Pro1103Gln) c.3386C>A (p.Pro1129Gln) c.3284C>A (p.Pro1095Gln) c.3389C>A (p.Pro1130Gln) c.2684C>A (p.Pro895Gln) c.2213C>A (p.Pro738Gln) n.3380C>A c.2600C>A (p.Pro867Gln) c.2132C>A (p.Pro711Gln) n.3480C>A n.3332C>A n.3248C>A | |
17 | g.67128734G>A | CA400711127 | HELZ | c.3304C>T (p.Pro1102Ser) c.3307C>T (p.Pro1103Ser) c.3385C>T (p.Pro1129Ser) c.3283C>T (p.Pro1095Ser) c.3388C>T (p.Pro1130Ser) c.2683C>T (p.Pro895Ser) c.2212C>T (p.Pro738Ser) n.3379C>T c.2599C>T (p.Pro867Ser) c.2131C>T (p.Pro711Ser) n.3479C>T n.3331C>T n.3247C>T | |
17 | g.67128734G>C | CA400711123 | HELZ | c.3304C>G (p.Pro1102Ala) c.3307C>G (p.Pro1103Ala) c.3385C>G (p.Pro1129Ala) c.3283C>G (p.Pro1095Ala) c.3388C>G (p.Pro1130Ala) c.2683C>G (p.Pro895Ala) c.2212C>G (p.Pro738Ala) n.3379C>G c.2599C>G (p.Pro867Ala) c.2131C>G (p.Pro711Ala) n.3479C>G n.3331C>G n.3247C>G | |
17 | g.67128734G>T | CA400711125 | HELZ | c.3304C>A (p.Pro1102Thr) c.3307C>A (p.Pro1103Thr) c.3385C>A (p.Pro1129Thr) c.3283C>A (p.Pro1095Thr) c.3388C>A (p.Pro1130Thr) c.2683C>A (p.Pro895Thr) c.2212C>A (p.Pro738Thr) n.3379C>A c.2599C>A (p.Pro867Thr) c.2131C>A (p.Pro711Thr) n.3479C>A n.3331C>A n.3247C>A | |
17 | g.67128735A>C | CA400711129 | HELZ | c.3303T>G (p.Asn1101Lys) c.3306T>G (p.Asn1102Lys) c.3384T>G (p.Asn1128Lys) c.3282T>G (p.Asn1094Lys) c.3387T>G (p.Asn1129Lys) c.2682T>G (p.Asn894Lys) c.2211T>G (p.Asn737Lys) n.3378T>G c.2598T>G (p.Asn866Lys) c.2130T>G (p.Asn710Lys) n.3478T>G n.3330T>G n.3246T>G | |
17 | g.67128735A>G | CA501487634 | HELZ | c.3303T>C (p.Asn1101=) c.3306T>C (p.Asn1102=) c.3384T>C (p.Asn1128=) c.3282T>C (p.Asn1094=) c.3387T>C (p.Asn1129=) c.2682T>C (p.Asn894=) c.2211T>C (p.Asn737=) n.3378T>C c.2598T>C (p.Asn866=) c.2130T>C (p.Asn710=) n.3478T>C n.3330T>C n.3246T>C | |
17 | g.67128735A>T | CA400711130 | HELZ | c.3303T>A (p.Asn1101Lys) c.3306T>A (p.Asn1102Lys) c.3384T>A (p.Asn1128Lys) c.3282T>A (p.Asn1094Lys) c.3387T>A (p.Asn1129Lys) c.2682T>A (p.Asn894Lys) c.2211T>A (p.Asn737Lys) n.3378T>A c.2598T>A (p.Asn866Lys) c.2130T>A (p.Asn710Lys) n.3478T>A n.3330T>A n.3246T>A | |
17 | g.67128736T>A | CA400711133 | HELZ | c.3302A>T (p.Asn1101Ile) c.3305A>T (p.Asn1102Ile) c.3383A>T (p.Asn1128Ile) c.3281A>T (p.Asn1094Ile) c.3386A>T (p.Asn1129Ile) c.2681A>T (p.Asn894Ile) c.2210A>T (p.Asn737Ile) n.3377A>T c.2597A>T (p.Asn866Ile) c.2129A>T (p.Asn710Ile) n.3477A>T n.3329A>T n.3245A>T | dbSNP |
17 | g.67128736T>C | CA8722780 | HELZ | c.3302A>G (p.Asn1101Ser) c.3305A>G (p.Asn1102Ser) c.3383A>G (p.Asn1128Ser) c.3281A>G (p.Asn1094Ser) c.3386A>G (p.Asn1129Ser) c.2681A>G (p.Asn894Ser) c.2210A>G (p.Asn737Ser) n.3377A>G c.2597A>G (p.Asn866Ser) c.2129A>G (p.Asn710Ser) n.3477A>G n.3329A>G n.3245A>G | dbSNP ExAC gnomAD v2 |
17 | g.67128736T>G | CA400711136 | HELZ | c.3302A>C (p.Asn1101Thr) c.3305A>C (p.Asn1102Thr) c.3383A>C (p.Asn1128Thr) c.3281A>C (p.Asn1094Thr) c.3386A>C (p.Asn1129Thr) c.2681A>C (p.Asn894Thr) c.2210A>C (p.Asn737Thr) n.3377A>C c.2597A>C (p.Asn866Thr) c.2129A>C (p.Asn710Thr) n.3477A>C n.3329A>C n.3245A>C | |
17 | g.67128736T= | CA2271598001 | HELZ | c.3302A= (p.Asn1101=) c.3305A= (p.Asn1102=) c.3383A= (p.Asn1128=) c.3281A= (p.Asn1094=) c.3386A= (p.Asn1129=) c.2681A= (p.Asn894=) c.2210A= (p.Asn737=) n.3377A= c.2597A= (p.Asn866=) c.2129A= (p.Asn710=) n.3477A= n.3329A= n.3245A= | |
17 | g.67128737T>A | CA400711137 | HELZ | c.3301A>T (p.Asn1101Tyr) c.3304A>T (p.Asn1102Tyr) c.3382A>T (p.Asn1128Tyr) c.3280A>T (p.Asn1094Tyr) c.3385A>T (p.Asn1129Tyr) c.2680A>T (p.Asn894Tyr) c.2209A>T (p.Asn737Tyr) n.3376A>T c.2596A>T (p.Asn866Tyr) c.2128A>T (p.Asn710Tyr) n.3476A>T n.3328A>T n.3244A>T | |
17 | g.67128737T>C | CA400711139 | HELZ | c.3301A>G (p.Asn1101Asp) c.3304A>G (p.Asn1102Asp) c.3382A>G (p.Asn1128Asp) c.3280A>G (p.Asn1094Asp) c.3385A>G (p.Asn1129Asp) c.2680A>G (p.Asn894Asp) c.2209A>G (p.Asn737Asp) n.3376A>G c.2596A>G (p.Asn866Asp) c.2128A>G (p.Asn710Asp) n.3476A>G n.3328A>G n.3244A>G | gnomAD v4 |
17 | g.67128737T>G | CA400711141 | HELZ | c.3301A>C (p.Asn1101His) c.3304A>C (p.Asn1102His) c.3382A>C (p.Asn1128His) c.3280A>C (p.Asn1094His) c.3385A>C (p.Asn1129His) c.2680A>C (p.Asn894His) c.2209A>C (p.Asn737His) n.3376A>C c.2596A>C (p.Asn866His) c.2128A>C (p.Asn710His) n.3476A>C n.3328A>C n.3244A>C | |
17 | g.67128738C>A | CA400711144 | HELZ | c.3300G>T (p.Leu1100Phe) c.3303G>T (p.Leu1101Phe) c.3381G>T (p.Leu1127Phe) c.3279G>T (p.Leu1093Phe) c.3384G>T (p.Leu1128Phe) c.2679G>T (p.Leu893Phe) c.2208G>T (p.Leu736Phe) n.3375G>T c.2595G>T (p.Leu865Phe) c.2127G>T (p.Leu709Phe) n.3475G>T n.3327G>T n.3243G>T | |
17 | g.67128738C>G | CA400711146 | HELZ | c.3300G>C (p.Leu1100Phe) c.3303G>C (p.Leu1101Phe) c.3381G>C (p.Leu1127Phe) c.3279G>C (p.Leu1093Phe) c.3384G>C (p.Leu1128Phe) c.2679G>C (p.Leu893Phe) c.2208G>C (p.Leu736Phe) n.3375G>C c.2595G>C (p.Leu865Phe) c.2127G>C (p.Leu709Phe) n.3475G>C n.3327G>C n.3243G>C | |
17 | g.67128738C>T | CA501487638 | HELZ | c.3300G>A (p.Leu1100=) c.3303G>A (p.Leu1101=) c.3381G>A (p.Leu1127=) c.3279G>A (p.Leu1093=) c.3384G>A (p.Leu1128=) c.2679G>A (p.Leu893=) c.2208G>A (p.Leu736=) n.3375G>A c.2595G>A (p.Leu865=) c.2127G>A (p.Leu709=) n.3475G>A n.3327G>A n.3243G>A | |
17 | g.67128738_67128739del | CA2569970084 | HELZ | c.3299_3300del (p.Leu1100Ter) c.3302_3303del (p.Leu1101Ter) c.3380_3381del (p.Leu1127Ter) c.3278_3279del (p.Leu1093Ter) c.3383_3384del (p.Leu1128Ter) c.2678_2679del (p.Leu893Ter) c.2207_2208del (p.Leu736Ter) n.3374_3375del c.2594_2595del (p.Leu865Ter) c.2126_2127del (p.Leu709Ter) n.3474_3475del n.3326_3327del n.3242_3243del | |
17 | g.67128739A>C | CA400711151 | HELZ | c.3299T>G (p.Leu1100Trp) c.3302T>G (p.Leu1101Trp) c.3380T>G (p.Leu1127Trp) c.3278T>G (p.Leu1093Trp) c.3383T>G (p.Leu1128Trp) c.2678T>G (p.Leu893Trp) c.2207T>G (p.Leu736Trp) n.3374T>G c.2594T>G (p.Leu865Trp) c.2126T>G (p.Leu709Trp) n.3474T>G n.3326T>G n.3242T>G | |
17 | g.67128739A>G | CA400711153 | HELZ | c.3299T>C (p.Leu1100Ser) c.3302T>C (p.Leu1101Ser) c.3380T>C (p.Leu1127Ser) c.3278T>C (p.Leu1093Ser) c.3383T>C (p.Leu1128Ser) c.2678T>C (p.Leu893Ser) c.2207T>C (p.Leu736Ser) n.3374T>C c.2594T>C (p.Leu865Ser) c.2126T>C (p.Leu709Ser) n.3474T>C n.3326T>C n.3242T>C | |
17 | g.67128739A>T | CA400711149 | HELZ | c.3299T>A (p.Leu1100Ter) c.3302T>A (p.Leu1101Ter) c.3380T>A (p.Leu1127Ter) c.3278T>A (p.Leu1093Ter) c.3383T>A (p.Leu1128Ter) c.2678T>A (p.Leu893Ter) c.2207T>A (p.Leu736Ter) n.3374T>A c.2594T>A (p.Leu865Ter) c.2126T>A (p.Leu709Ter) n.3474T>A n.3326T>A n.3242T>A | |
17 | g.67128740A>C | CA400711156 | HELZ | c.3298T>G (p.Leu1100Val) c.3301T>G (p.Leu1101Val) c.3379T>G (p.Leu1127Val) c.3277T>G (p.Leu1093Val) c.3382T>G (p.Leu1128Val) c.2677T>G (p.Leu893Val) c.2206T>G (p.Leu736Val) n.3373T>G c.2593T>G (p.Leu865Val) c.2125T>G (p.Leu709Val) n.3473T>G n.3325T>G n.3241T>G | |
17 | g.67128740A>G | CA501487639 | HELZ | c.3298T>C (p.Leu1100=) c.3301T>C (p.Leu1101=) c.3379T>C (p.Leu1127=) c.3277T>C (p.Leu1093=) c.3382T>C (p.Leu1128=) c.2677T>C (p.Leu893=) c.2206T>C (p.Leu736=) n.3373T>C c.2593T>C (p.Leu865=) c.2125T>C (p.Leu709=) n.3473T>C n.3325T>C n.3241T>C | gnomAD v4 |
17 | g.67128740A>T | CA400711158 | HELZ | c.3298T>A (p.Leu1100Met) c.3301T>A (p.Leu1101Met) c.3379T>A (p.Leu1127Met) c.3277T>A (p.Leu1093Met) c.3382T>A (p.Leu1128Met) c.2677T>A (p.Leu893Met) c.2206T>A (p.Leu736Met) n.3373T>A c.2593T>A (p.Leu865Met) c.2125T>A (p.Leu709Met) n.3473T>A n.3325T>A n.3241T>A | |
17 | g.67128741C>A | CA501487643 | HELZ | c.3297G>T (p.Val1099=) c.3300G>T (p.Val1100=) c.3378G>T (p.Val1126=) c.3276G>T (p.Val1092=) c.3381G>T (p.Val1127=) c.2676G>T (p.Val892=) c.2205G>T (p.Val735=) n.3372G>T c.2592G>T (p.Val864=) c.2124G>T (p.Val708=) n.3472G>T n.3324G>T n.3240G>T | dbSNP |
17 | g.67128741C= | CA2271598002 | HELZ | c.3297G= (p.Val1099=) c.3300G= (p.Val1100=) c.3378G= (p.Val1126=) c.3276G= (p.Val1092=) c.3381G= (p.Val1127=) c.2676G= (p.Val892=) c.2205G= (p.Val735=) n.3372G= c.2592G= (p.Val864=) c.2124G= (p.Val708=) n.3472G= n.3324G= n.3240G= | |
17 | g.67128741C>G | CA501487642 | HELZ | c.3297G>C (p.Val1099=) c.3300G>C (p.Val1100=) c.3378G>C (p.Val1126=) c.3276G>C (p.Val1092=) c.3381G>C (p.Val1127=) c.2676G>C (p.Val892=) c.2205G>C (p.Val735=) n.3372G>C c.2592G>C (p.Val864=) c.2124G>C (p.Val708=) n.3472G>C n.3324G>C n.3240G>C | |
17 | g.67128741C>T | CA501487641 | HELZ | c.3297G>A (p.Val1099=) c.3300G>A (p.Val1100=) c.3378G>A (p.Val1126=) c.3276G>A (p.Val1092=) c.3381G>A (p.Val1127=) c.2676G>A (p.Val892=) c.2205G>A (p.Val735=) n.3372G>A c.2592G>A (p.Val864=) c.2124G>A (p.Val708=) n.3472G>A n.3324G>A n.3240G>A | |
17 | g.67128742A>C | CA400711161 | HELZ | c.3296T>G (p.Val1099Gly) c.3299T>G (p.Val1100Gly) c.3377T>G (p.Val1126Gly) c.3275T>G (p.Val1092Gly) c.3380T>G (p.Val1127Gly) c.2675T>G (p.Val892Gly) c.2204T>G (p.Val735Gly) n.3371T>G c.2591T>G (p.Val864Gly) c.2123T>G (p.Val708Gly) n.3471T>G n.3323T>G n.3239T>G | |
17 | g.67128742A>G | CA400711163 | HELZ | c.3296T>C (p.Val1099Ala) c.3299T>C (p.Val1100Ala) c.3377T>C (p.Val1126Ala) c.3275T>C (p.Val1092Ala) c.3380T>C (p.Val1127Ala) c.2675T>C (p.Val892Ala) c.2204T>C (p.Val735Ala) n.3371T>C c.2591T>C (p.Val864Ala) c.2123T>C (p.Val708Ala) n.3471T>C n.3323T>C n.3239T>C | |
17 | g.67128742A>T | CA400711165 | HELZ | c.3296T>A (p.Val1099Glu) c.3299T>A (p.Val1100Glu) c.3377T>A (p.Val1126Glu) c.3275T>A (p.Val1092Glu) c.3380T>A (p.Val1127Glu) c.2675T>A (p.Val892Glu) c.2204T>A (p.Val735Glu) n.3371T>A c.2591T>A (p.Val864Glu) c.2123T>A (p.Val708Glu) n.3471T>A n.3323T>A n.3239T>A | |
17 | g.67128742_67128767delinsACATATGTCTTCTTTAGTTCTAAAGC | CA2271598003 | HELZ | c.3271_3296delinsGCTTTAGAACTAAAGAAGACATATGT (p.Ala1091=) c.3274_3299delinsGCTTTAGAACTAAAGAAGACATATGT (p.Ala1092=) c.3352_3377delinsGCTTTAGAACTAAAGAAGACATATGT (p.Ala1118=) c.3250_3275delinsGCTTTAGAACTAAAGAAGACATATGT (p.Ala1084=) c.3355_3380delinsGCTTTAGAACTAAAGAAGACATATGT (p.Ala1119=) c.2650_2675delinsGCTTTAGAACTAAAGAAGACATATGT (p.Ala884=) c.2179_2204delinsGCTTTAGAACTAAAGAAGACATATGT (p.Ala727=) n.3346_3371delinsGCTTTAGAACTAAAGAAGACATATGT c.2566_2591delinsGCTTTAGAACTAAAGAAGACATATGT (p.Ala856=) c.2098_2123delinsGCTTTAGAACTAAAGAAGACATATGT (p.Ala700=) n.3446_3471delinsGCTTTAGAACTAAAGAAGACATATGT n.3298_3323delinsGCTTTAGAACTAAAGAAGACATATGT n.3214_3239delinsGCTTTAGAACTAAAGAAGACATATGT | |
17 | g.67128743C>A | CA400711173 | HELZ | c.3295G>T (p.Val1099Leu) c.3298G>T (p.Val1100Leu) c.3376G>T (p.Val1126Leu) c.3274G>T (p.Val1092Leu) c.3379G>T (p.Val1127Leu) c.2674G>T (p.Val892Leu) c.2203G>T (p.Val735Leu) n.3370G>T c.2590G>T (p.Val864Leu) c.2122G>T (p.Val708Leu) n.3470G>T n.3322G>T n.3238G>T | |
17 | g.67128743C>G | CA400711171 | HELZ | c.3295G>C (p.Val1099Leu) c.3298G>C (p.Val1100Leu) c.3376G>C (p.Val1126Leu) c.3274G>C (p.Val1092Leu) c.3379G>C (p.Val1127Leu) c.2674G>C (p.Val892Leu) c.2203G>C (p.Val735Leu) n.3370G>C c.2590G>C (p.Val864Leu) c.2122G>C (p.Val708Leu) n.3470G>C n.3322G>C n.3238G>C | |
17 | g.67128743C>T | CA400711169 | HELZ | c.3295G>A (p.Val1099Met) c.3298G>A (p.Val1100Met) c.3376G>A (p.Val1126Met) c.3274G>A (p.Val1092Met) c.3379G>A (p.Val1127Met) c.2674G>A (p.Val892Met) c.2203G>A (p.Val735Met) n.3370G>A c.2590G>A (p.Val864Met) c.2122G>A (p.Val708Met) n.3470G>A n.3322G>A n.3238G>A | |
17 | g.67128744_67128768del | CA2271598004 | HELZ | c.3271_3295del (p.Ala1091CysfsTer2) c.3274_3298del (p.Ala1092CysfsTer2) c.3352_3376del (p.Ala1118CysfsTer2) c.3250_3274del (p.Ala1084CysfsTer2) c.3355_3379del (p.Ala1119CysfsTer2) c.2650_2674del (p.Ala884CysfsTer2) c.2179_2203del (p.Ala727CysfsTer2) n.3346_3370del c.2566_2590del (p.Ala856CysfsTer2) c.2098_2122del (p.Ala700CysfsTer2) n.3446_3470del n.3298_3322del n.3214_3238del | dbSNP |
17 | g.67128744A= | CA2271598005 | HELZ | c.3294T= (p.Tyr1098=) c.3297T= (p.Tyr1099=) c.3375T= (p.Tyr1125=) c.3273T= (p.Tyr1091=) c.3378T= (p.Tyr1126=) c.2673T= (p.Tyr891=) c.2202T= (p.Tyr734=) n.3369T= c.2589T= (p.Tyr863=) c.2121T= (p.Tyr707=) n.3469T= n.3321T= n.3237T= | |
17 | g.67128744A>C | CA400711176 | HELZ | c.3294T>G (p.Tyr1098Ter) c.3297T>G (p.Tyr1099Ter) c.3375T>G (p.Tyr1125Ter) c.3273T>G (p.Tyr1091Ter) c.3378T>G (p.Tyr1126Ter) c.2673T>G (p.Tyr891Ter) c.2202T>G (p.Tyr734Ter) n.3369T>G c.2589T>G (p.Tyr863Ter) c.2121T>G (p.Tyr707Ter) n.3469T>G n.3321T>G n.3237T>G | |
17 | g.67128744A>G | CA8722781 | HELZ | c.3294T>C (p.Tyr1098=) c.3297T>C (p.Tyr1099=) c.3375T>C (p.Tyr1125=) c.3273T>C (p.Tyr1091=) c.3378T>C (p.Tyr1126=) c.2673T>C (p.Tyr891=) c.2202T>C (p.Tyr734=) n.3369T>C c.2589T>C (p.Tyr863=) c.2121T>C (p.Tyr707=) n.3469T>C n.3321T>C n.3237T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.67128744A>T | CA400711180 | HELZ | c.3294T>A (p.Tyr1098Ter) c.3297T>A (p.Tyr1099Ter) c.3375T>A (p.Tyr1125Ter) c.3273T>A (p.Tyr1091Ter) c.3378T>A (p.Tyr1126Ter) c.2673T>A (p.Tyr891Ter) c.2202T>A (p.Tyr734Ter) n.3369T>A c.2589T>A (p.Tyr863Ter) c.2121T>A (p.Tyr707Ter) n.3469T>A n.3321T>A n.3237T>A | |
17 | g.67128745T>A | CA400711184 | HELZ | c.3293A>T (p.Tyr1098Phe) c.3296A>T (p.Tyr1099Phe) c.3374A>T (p.Tyr1125Phe) c.3272A>T (p.Tyr1091Phe) c.3377A>T (p.Tyr1126Phe) c.2672A>T (p.Tyr891Phe) c.2201A>T (p.Tyr734Phe) n.3368A>T c.2588A>T (p.Tyr863Phe) c.2120A>T (p.Tyr707Phe) n.3468A>T n.3320A>T n.3236A>T | |
17 | g.67128745T>C | CA400711186 | HELZ | c.3293A>G (p.Tyr1098Cys) c.3296A>G (p.Tyr1099Cys) c.3374A>G (p.Tyr1125Cys) c.3272A>G (p.Tyr1091Cys) c.3377A>G (p.Tyr1126Cys) c.2672A>G (p.Tyr891Cys) c.2201A>G (p.Tyr734Cys) n.3368A>G c.2588A>G (p.Tyr863Cys) c.2120A>G (p.Tyr707Cys) n.3468A>G n.3320A>G n.3236A>G | |
17 | g.67128745T>G | CA400711188 | HELZ | c.3293A>C (p.Tyr1098Ser) c.3296A>C (p.Tyr1099Ser) c.3374A>C (p.Tyr1125Ser) c.3272A>C (p.Tyr1091Ser) c.3377A>C (p.Tyr1126Ser) c.2672A>C (p.Tyr891Ser) c.2201A>C (p.Tyr734Ser) n.3368A>C c.2588A>C (p.Tyr863Ser) c.2120A>C (p.Tyr707Ser) n.3468A>C n.3320A>C n.3236A>C | |
17 | g.67128746A>C | CA400711192 | HELZ | c.3292T>G (p.Tyr1098Asp) c.3295T>G (p.Tyr1099Asp) c.3373T>G (p.Tyr1125Asp) c.3271T>G (p.Tyr1091Asp) c.3376T>G (p.Tyr1126Asp) c.2671T>G (p.Tyr891Asp) c.2200T>G (p.Tyr734Asp) n.3367T>G c.2587T>G (p.Tyr863Asp) c.2119T>G (p.Tyr707Asp) n.3467T>G n.3319T>G n.3235T>G | |
17 | g.67128746A>G | CA400711196 | HELZ | c.3292T>C (p.Tyr1098His) c.3295T>C (p.Tyr1099His) c.3373T>C (p.Tyr1125His) c.3271T>C (p.Tyr1091His) c.3376T>C (p.Tyr1126His) c.2671T>C (p.Tyr891His) c.2200T>C (p.Tyr734His) n.3367T>C c.2587T>C (p.Tyr863His) c.2119T>C (p.Tyr707His) n.3467T>C n.3319T>C n.3235T>C | ClinVar |
17 | g.67128746A>T | CA400711194 | HELZ | c.3292T>A (p.Tyr1098Asn) c.3295T>A (p.Tyr1099Asn) c.3373T>A (p.Tyr1125Asn) c.3271T>A (p.Tyr1091Asn) c.3376T>A (p.Tyr1126Asn) c.2671T>A (p.Tyr891Asn) c.2200T>A (p.Tyr734Asn) n.3367T>A c.2587T>A (p.Tyr863Asn) c.2119T>A (p.Tyr707Asn) n.3467T>A n.3319T>A n.3235T>A | |
17 | g.67128747T>A | CA501487645 | HELZ | c.3291A>T (p.Thr1097=) c.3294A>T (p.Thr1098=) c.3372A>T (p.Thr1124=) c.3270A>T (p.Thr1090=) c.3375A>T (p.Thr1125=) c.2670A>T (p.Thr890=) c.2199A>T (p.Thr733=) n.3366A>T c.2586A>T (p.Thr862=) c.2118A>T (p.Thr706=) n.3466A>T n.3318A>T n.3234A>T | |
17 | g.67128747T>C | CA501487648 | HELZ | c.3291A>G (p.Thr1097=) c.3294A>G (p.Thr1098=) c.3372A>G (p.Thr1124=) c.3270A>G (p.Thr1090=) c.3375A>G (p.Thr1125=) c.2670A>G (p.Thr890=) c.2199A>G (p.Thr733=) n.3366A>G c.2586A>G (p.Thr862=) c.2118A>G (p.Thr706=) n.3466A>G n.3318A>G n.3234A>G | |
17 | g.67128747T>G | CA501487647 | HELZ | c.3291A>C (p.Thr1097=) c.3294A>C (p.Thr1098=) c.3372A>C (p.Thr1124=) c.3270A>C (p.Thr1090=) c.3375A>C (p.Thr1125=) c.2670A>C (p.Thr890=) c.2199A>C (p.Thr733=) n.3366A>C c.2586A>C (p.Thr862=) c.2118A>C (p.Thr706=) n.3466A>C n.3318A>C n.3234A>C | |
17 | g.67128748G>A | CA400711199 | HELZ | c.3290C>T (p.Thr1097Ile) c.3293C>T (p.Thr1098Ile) c.3371C>T (p.Thr1124Ile) c.3269C>T (p.Thr1090Ile) c.3374C>T (p.Thr1125Ile) c.2669C>T (p.Thr890Ile) c.2198C>T (p.Thr733Ile) n.3365C>T c.2585C>T (p.Thr862Ile) c.2117C>T (p.Thr706Ile) n.3465C>T n.3317C>T n.3233C>T | |
17 | g.67128748G>C | CA400711201 | HELZ | c.3290C>G (p.Thr1097Arg) c.3293C>G (p.Thr1098Arg) c.3371C>G (p.Thr1124Arg) c.3269C>G (p.Thr1090Arg) c.3374C>G (p.Thr1125Arg) c.2669C>G (p.Thr890Arg) c.2198C>G (p.Thr733Arg) n.3365C>G c.2585C>G (p.Thr862Arg) c.2117C>G (p.Thr706Arg) n.3465C>G n.3317C>G n.3233C>G | |
17 | g.67128748G>T | CA400711203 | HELZ | c.3290C>A (p.Thr1097Lys) c.3293C>A (p.Thr1098Lys) c.3371C>A (p.Thr1124Lys) c.3269C>A (p.Thr1090Lys) c.3374C>A (p.Thr1125Lys) c.2669C>A (p.Thr890Lys) c.2198C>A (p.Thr733Lys) n.3365C>A c.2585C>A (p.Thr862Lys) c.2117C>A (p.Thr706Lys) n.3465C>A n.3317C>A n.3233C>A | |
17 | g.67128749T>A | CA400711205 | HELZ | c.3289A>T (p.Thr1097Ser) c.3292A>T (p.Thr1098Ser) c.3370A>T (p.Thr1124Ser) c.3268A>T (p.Thr1090Ser) c.3373A>T (p.Thr1125Ser) c.2668A>T (p.Thr890Ser) c.2197A>T (p.Thr733Ser) n.3364A>T c.2584A>T (p.Thr862Ser) c.2116A>T (p.Thr706Ser) n.3464A>T n.3316A>T n.3232A>T | |
17 | g.67128749T>C | CA8722782 | HELZ | c.3289A>G (p.Thr1097Ala) c.3292A>G (p.Thr1098Ala) c.3370A>G (p.Thr1124Ala) c.3268A>G (p.Thr1090Ala) c.3373A>G (p.Thr1125Ala) c.2668A>G (p.Thr890Ala) c.2197A>G (p.Thr733Ala) n.3364A>G c.2584A>G (p.Thr862Ala) c.2116A>G (p.Thr706Ala) n.3464A>G n.3316A>G n.3232A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.67128749T>G | CA400711209 | HELZ | c.3289A>C (p.Thr1097Pro) c.3292A>C (p.Thr1098Pro) c.3370A>C (p.Thr1124Pro) c.3268A>C (p.Thr1090Pro) c.3373A>C (p.Thr1125Pro) c.2668A>C (p.Thr890Pro) c.2197A>C (p.Thr733Pro) n.3364A>C c.2584A>C (p.Thr862Pro) c.2116A>C (p.Thr706Pro) n.3464A>C n.3316A>C n.3232A>C | |
17 | g.67128749T= | CA2271598006 | HELZ | c.3289A= (p.Thr1097=) c.3292A= (p.Thr1098=) c.3370A= (p.Thr1124=) c.3268A= (p.Thr1090=) c.3373A= (p.Thr1125=) c.2668A= (p.Thr890=) c.2197A= (p.Thr733=) n.3364A= c.2584A= (p.Thr862=) c.2116A= (p.Thr706=) n.3464A= n.3316A= n.3232A= | |
17 | g.67128750C>A | CA400711212 | HELZ | c.3288G>T (p.Lys1096Asn) c.3291G>T (p.Lys1097Asn) c.3369G>T (p.Lys1123Asn) c.3267G>T (p.Lys1089Asn) c.3372G>T (p.Lys1124Asn) c.2667G>T (p.Lys889Asn) c.2196G>T (p.Lys732Asn) n.3363G>T c.2583G>T (p.Lys861Asn) c.2115G>T (p.Lys705Asn) n.3463G>T n.3315G>T n.3231G>T | |
17 | g.67128750C>G | CA400711213 | HELZ | c.3288G>C (p.Lys1096Asn) c.3291G>C (p.Lys1097Asn) c.3369G>C (p.Lys1123Asn) c.3267G>C (p.Lys1089Asn) c.3372G>C (p.Lys1124Asn) c.2667G>C (p.Lys889Asn) c.2196G>C (p.Lys732Asn) n.3363G>C c.2583G>C (p.Lys861Asn) c.2115G>C (p.Lys705Asn) n.3463G>C n.3315G>C n.3231G>C | COSMIC |
17 | g.67128750C>T | CA501487650 | HELZ | c.3288G>A (p.Lys1096=) c.3291G>A (p.Lys1097=) c.3369G>A (p.Lys1123=) c.3267G>A (p.Lys1089=) c.3372G>A (p.Lys1124=) c.2667G>A (p.Lys889=) c.2196G>A (p.Lys732=) n.3363G>A c.2583G>A (p.Lys861=) c.2115G>A (p.Lys705=) n.3463G>A n.3315G>A n.3231G>A | |
17 | g.67128751T>A | CA400711216 | HELZ | c.3287A>T (p.Lys1096Met) c.3290A>T (p.Lys1097Met) c.3368A>T (p.Lys1123Met) c.3266A>T (p.Lys1089Met) c.3371A>T (p.Lys1124Met) c.2666A>T (p.Lys889Met) c.2195A>T (p.Lys732Met) n.3362A>T c.2582A>T (p.Lys861Met) c.2114A>T (p.Lys705Met) n.3462A>T n.3314A>T n.3230A>T | |
17 | g.67128751T>C | CA400711218 | HELZ | c.3287A>G (p.Lys1096Arg) c.3290A>G (p.Lys1097Arg) c.3368A>G (p.Lys1123Arg) c.3266A>G (p.Lys1089Arg) c.3371A>G (p.Lys1124Arg) c.2666A>G (p.Lys889Arg) c.2195A>G (p.Lys732Arg) n.3362A>G c.2582A>G (p.Lys861Arg) c.2114A>G (p.Lys705Arg) n.3462A>G n.3314A>G n.3230A>G | |
17 | g.67128751T>G | CA400711221 | HELZ | c.3287A>C (p.Lys1096Thr) c.3290A>C (p.Lys1097Thr) c.3368A>C (p.Lys1123Thr) c.3266A>C (p.Lys1089Thr) c.3371A>C (p.Lys1124Thr) c.2666A>C (p.Lys889Thr) c.2195A>C (p.Lys732Thr) n.3362A>C c.2582A>C (p.Lys861Thr) c.2114A>C (p.Lys705Thr) n.3462A>C n.3314A>C n.3230A>C | |
17 | g.67128752T>A | CA400711229 | HELZ | c.3286A>T (p.Lys1096Ter) c.3289A>T (p.Lys1097Ter) c.3367A>T (p.Lys1123Ter) c.3265A>T (p.Lys1089Ter) c.3370A>T (p.Lys1124Ter) c.2665A>T (p.Lys889Ter) c.2194A>T (p.Lys732Ter) n.3361A>T c.2581A>T (p.Lys861Ter) c.2113A>T (p.Lys705Ter) n.3461A>T n.3313A>T n.3229A>T | |
17 | g.67128752T>C | CA400711227 | HELZ | c.3286A>G (p.Lys1096Glu) c.3289A>G (p.Lys1097Glu) c.3367A>G (p.Lys1123Glu) c.3265A>G (p.Lys1089Glu) c.3370A>G (p.Lys1124Glu) c.2665A>G (p.Lys889Glu) c.2194A>G (p.Lys732Glu) n.3361A>G c.2581A>G (p.Lys861Glu) c.2113A>G (p.Lys705Glu) n.3461A>G n.3313A>G n.3229A>G | |
17 | g.67128752T>G | CA400711225 | HELZ | c.3286A>C (p.Lys1096Gln) c.3289A>C (p.Lys1097Gln) c.3367A>C (p.Lys1123Gln) c.3265A>C (p.Lys1089Gln) c.3370A>C (p.Lys1124Gln) c.2665A>C (p.Lys889Gln) c.2194A>C (p.Lys732Gln) n.3361A>C c.2581A>C (p.Lys861Gln) c.2113A>C (p.Lys705Gln) n.3461A>C n.3313A>C n.3229A>C | |
17 | g.67128753C>A | CA400711232 | HELZ | c.3285G>T (p.Lys1095Asn) c.3288G>T (p.Lys1096Asn) c.3366G>T (p.Lys1122Asn) c.3264G>T (p.Lys1088Asn) c.3369G>T (p.Lys1123Asn) c.2664G>T (p.Lys888Asn) c.2193G>T (p.Lys731Asn) n.3360G>T c.2580G>T (p.Lys860Asn) c.2112G>T (p.Lys704Asn) n.3460G>T n.3312G>T n.3228G>T | |
17 | g.67128753C>G | CA400711234 | HELZ | c.3285G>C (p.Lys1095Asn) c.3288G>C (p.Lys1096Asn) c.3366G>C (p.Lys1122Asn) c.3264G>C (p.Lys1088Asn) c.3369G>C (p.Lys1123Asn) c.2664G>C (p.Lys888Asn) c.2193G>C (p.Lys731Asn) n.3360G>C c.2580G>C (p.Lys860Asn) c.2112G>C (p.Lys704Asn) n.3460G>C n.3312G>C n.3228G>C | |
17 | g.67128753C>T | CA501487653 | HELZ | c.3285G>A (p.Lys1095=) c.3288G>A (p.Lys1096=) c.3366G>A (p.Lys1122=) c.3264G>A (p.Lys1088=) c.3369G>A (p.Lys1123=) c.2664G>A (p.Lys888=) c.2193G>A (p.Lys731=) n.3360G>A c.2580G>A (p.Lys860=) c.2112G>A (p.Lys704=) n.3460G>A n.3312G>A n.3228G>A | dbSNP |
17 | g.67128754T>A | CA400711237 | HELZ | c.3284A>T (p.Lys1095Met) c.3287A>T (p.Lys1096Met) c.3365A>T (p.Lys1122Met) c.3263A>T (p.Lys1088Met) c.3368A>T (p.Lys1123Met) c.2663A>T (p.Lys888Met) c.2192A>T (p.Lys731Met) n.3359A>T c.2579A>T (p.Lys860Met) c.2111A>T (p.Lys704Met) n.3459A>T n.3311A>T n.3227A>T | |
17 | g.67128754T>C | CA8722783 | HELZ | c.3284A>G (p.Lys1095Arg) c.3287A>G (p.Lys1096Arg) c.3365A>G (p.Lys1122Arg) c.3263A>G (p.Lys1088Arg) c.3368A>G (p.Lys1123Arg) c.2663A>G (p.Lys888Arg) c.2192A>G (p.Lys731Arg) n.3359A>G c.2579A>G (p.Lys860Arg) c.2111A>G (p.Lys704Arg) n.3459A>G n.3311A>G n.3227A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.67128754T>G | CA400711240 | HELZ | c.3284A>C (p.Lys1095Thr) c.3287A>C (p.Lys1096Thr) c.3365A>C (p.Lys1122Thr) c.3263A>C (p.Lys1088Thr) c.3368A>C (p.Lys1123Thr) c.2663A>C (p.Lys888Thr) c.2192A>C (p.Lys731Thr) n.3359A>C c.2579A>C (p.Lys860Thr) c.2111A>C (p.Lys704Thr) n.3459A>C n.3311A>C n.3227A>C | |
17 | g.67128754T= | CA2271598007 | HELZ | c.3284A= (p.Lys1095=) c.3287A= (p.Lys1096=) c.3365A= (p.Lys1122=) c.3263A= (p.Lys1088=) c.3368A= (p.Lys1123=) c.2663A= (p.Lys888=) c.2192A= (p.Lys731=) n.3359A= c.2579A= (p.Lys860=) c.2111A= (p.Lys704=) n.3459A= n.3311A= n.3227A= | |
17 | g.67128755T>A | CA400711243 | HELZ | c.3283A>T (p.Lys1095Ter) c.3286A>T (p.Lys1096Ter) c.3364A>T (p.Lys1122Ter) c.3262A>T (p.Lys1088Ter) c.3367A>T (p.Lys1123Ter) c.2662A>T (p.Lys888Ter) c.2191A>T (p.Lys731Ter) n.3358A>T c.2578A>T (p.Lys860Ter) c.2110A>T (p.Lys704Ter) n.3458A>T n.3310A>T n.3226A>T | |
17 | g.67128755T>C | CA400711245 | HELZ | c.3283A>G (p.Lys1095Glu) c.3286A>G (p.Lys1096Glu) c.3364A>G (p.Lys1122Glu) c.3262A>G (p.Lys1088Glu) c.3367A>G (p.Lys1123Glu) c.2662A>G (p.Lys888Glu) c.2191A>G (p.Lys731Glu) n.3358A>G c.2578A>G (p.Lys860Glu) c.2110A>G (p.Lys704Glu) n.3458A>G n.3310A>G n.3226A>G | |
17 | g.67128755T>G | CA400711248 | HELZ | c.3283A>C (p.Lys1095Gln) c.3286A>C (p.Lys1096Gln) c.3364A>C (p.Lys1122Gln) c.3262A>C (p.Lys1088Gln) c.3367A>C (p.Lys1123Gln) c.2662A>C (p.Lys888Gln) c.2191A>C (p.Lys731Gln) n.3358A>C c.2578A>C (p.Lys860Gln) c.2110A>C (p.Lys704Gln) n.3458A>C n.3310A>C n.3226A>C | |
17 | g.67128756T>A | CA501487658 | HELZ | c.3282A>T (p.Leu1094=) c.3285A>T (p.Leu1095=) c.3363A>T (p.Leu1121=) c.3261A>T (p.Leu1087=) c.3366A>T (p.Leu1122=) c.2661A>T (p.Leu887=) c.2190A>T (p.Leu730=) n.3357A>T c.2577A>T (p.Leu859=) c.2109A>T (p.Leu703=) n.3457A>T n.3309A>T n.3225A>T | |
17 | g.67128756T>C | CA293205855 | HELZ | c.3282A>G (p.Leu1094=) c.3285A>G (p.Leu1095=) c.3363A>G (p.Leu1121=) c.3261A>G (p.Leu1087=) c.3366A>G (p.Leu1122=) c.2661A>G (p.Leu887=) c.2190A>G (p.Leu730=) n.3357A>G c.2577A>G (p.Leu859=) c.2109A>G (p.Leu703=) n.3457A>G n.3309A>G n.3225A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.67128756T>G | CA501487657 | HELZ | c.3282A>C (p.Leu1094=) c.3285A>C (p.Leu1095=) c.3363A>C (p.Leu1121=) c.3261A>C (p.Leu1087=) c.3366A>C (p.Leu1122=) c.2661A>C (p.Leu887=) c.2190A>C (p.Leu730=) n.3357A>C c.2577A>C (p.Leu859=) c.2109A>C (p.Leu703=) n.3457A>C n.3309A>C n.3225A>C | |
17 | g.67128756T= | CA2271598008 | HELZ | c.3282A= (p.Leu1094=) c.3285A= (p.Leu1095=) c.3363A= (p.Leu1121=) c.3261A= (p.Leu1087=) c.3366A= (p.Leu1122=) c.2661A= (p.Leu887=) c.2190A= (p.Leu730=) n.3357A= c.2577A= (p.Leu859=) c.2109A= (p.Leu703=) n.3457A= n.3309A= n.3225A= | |
17 | g.67128757A>C | CA400711250 | HELZ | c.3281T>G (p.Leu1094Arg) c.3284T>G (p.Leu1095Arg) c.3362T>G (p.Leu1121Arg) c.3260T>G (p.Leu1087Arg) c.3365T>G (p.Leu1122Arg) c.2660T>G (p.Leu887Arg) c.2189T>G (p.Leu730Arg) n.3356T>G c.2576T>G (p.Leu859Arg) c.2108T>G (p.Leu703Arg) n.3456T>G n.3308T>G n.3224T>G | |
17 | g.67128757A>G | CA400711252 | HELZ | c.3281T>C (p.Leu1094Pro) c.3284T>C (p.Leu1095Pro) c.3362T>C (p.Leu1121Pro) c.3260T>C (p.Leu1087Pro) c.3365T>C (p.Leu1122Pro) c.2660T>C (p.Leu887Pro) c.2189T>C (p.Leu730Pro) n.3356T>C c.2576T>C (p.Leu859Pro) c.2108T>C (p.Leu703Pro) n.3456T>C n.3308T>C n.3224T>C | |
17 | g.67128757A>T | CA400711255 | HELZ | c.3281T>A (p.Leu1094Gln) c.3284T>A (p.Leu1095Gln) c.3362T>A (p.Leu1121Gln) c.3260T>A (p.Leu1087Gln) c.3365T>A (p.Leu1122Gln) c.2660T>A (p.Leu887Gln) c.2189T>A (p.Leu730Gln) n.3356T>A c.2576T>A (p.Leu859Gln) c.2108T>A (p.Leu703Gln) n.3456T>A n.3308T>A n.3224T>A | |
17 | g.67128758G>A | CA501487659 | HELZ | c.3280C>T (p.Leu1094=) c.3283C>T (p.Leu1095=) c.3361C>T (p.Leu1121=) c.3259C>T (p.Leu1087=) c.3364C>T (p.Leu1122=) c.2659C>T (p.Leu887=) c.2188C>T (p.Leu730=) n.3355C>T c.2575C>T (p.Leu859=) c.2107C>T (p.Leu703=) n.3455C>T n.3307C>T n.3223C>T | |
17 | g.67128758G>C | CA400711258 | HELZ | c.3280C>G (p.Leu1094Val) c.3283C>G (p.Leu1095Val) c.3361C>G (p.Leu1121Val) c.3259C>G (p.Leu1087Val) c.3364C>G (p.Leu1122Val) c.2659C>G (p.Leu887Val) c.2188C>G (p.Leu730Val) n.3355C>G c.2575C>G (p.Leu859Val) c.2107C>G (p.Leu703Val) n.3455C>G n.3307C>G n.3223C>G | |
17 | g.67128758G>T | CA400711260 | HELZ | c.3280C>A (p.Leu1094Ile) c.3283C>A (p.Leu1095Ile) c.3361C>A (p.Leu1121Ile) c.3259C>A (p.Leu1087Ile) c.3364C>A (p.Leu1122Ile) c.2659C>A (p.Leu887Ile) c.2188C>A (p.Leu730Ile) n.3355C>A c.2575C>A (p.Leu859Ile) c.2107C>A (p.Leu703Ile) n.3455C>A n.3307C>A n.3223C>A | |
17 | g.67128759T>A | CA400711262 | HELZ | c.3279A>T (p.Glu1093Asp) c.3282A>T (p.Glu1094Asp) c.3360A>T (p.Glu1120Asp) c.3258A>T (p.Glu1086Asp) c.3363A>T (p.Glu1121Asp) c.2658A>T (p.Glu886Asp) c.2187A>T (p.Glu729Asp) n.3354A>T c.2574A>T (p.Glu858Asp) c.2106A>T (p.Glu702Asp) n.3454A>T n.3306A>T n.3222A>T | |
17 | g.67128759T>C | CA293205858 | HELZ | c.3279A>G (p.Glu1093=) c.3282A>G (p.Glu1094=) c.3360A>G (p.Glu1120=) c.3258A>G (p.Glu1086=) c.3363A>G (p.Glu1121=) c.2658A>G (p.Glu886=) c.2187A>G (p.Glu729=) n.3354A>G c.2574A>G (p.Glu858=) c.2106A>G (p.Glu702=) n.3454A>G n.3306A>G n.3222A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.67128759T>G | CA400711265 | HELZ | c.3279A>C (p.Glu1093Asp) c.3282A>C (p.Glu1094Asp) c.3360A>C (p.Glu1120Asp) c.3258A>C (p.Glu1086Asp) c.3363A>C (p.Glu1121Asp) c.2658A>C (p.Glu886Asp) c.2187A>C (p.Glu729Asp) n.3354A>C c.2574A>C (p.Glu858Asp) c.2106A>C (p.Glu702Asp) n.3454A>C n.3306A>C n.3222A>C | |
17 | g.67128759T= | CA2271598009 | HELZ | c.3279A= (p.Glu1093=) c.3282A= (p.Glu1094=) c.3360A= (p.Glu1120=) c.3258A= (p.Glu1086=) c.3363A= (p.Glu1121=) c.2658A= (p.Glu886=) c.2187A= (p.Glu729=) n.3354A= c.2574A= (p.Glu858=) c.2106A= (p.Glu702=) n.3454A= n.3306A= n.3222A= | |
17 | g.67128760T>A | CA400711268 | HELZ | c.3278A>T (p.Glu1093Val) c.3281A>T (p.Glu1094Val) c.3359A>T (p.Glu1120Val) c.3257A>T (p.Glu1086Val) c.3362A>T (p.Glu1121Val) c.2657A>T (p.Glu886Val) c.2186A>T (p.Glu729Val) n.3353A>T c.2573A>T (p.Glu858Val) c.2105A>T (p.Glu702Val) n.3453A>T n.3305A>T n.3221A>T | |
17 | g.67128760T>C | CA400711272 | HELZ | c.3278A>G (p.Glu1093Gly) c.3281A>G (p.Glu1094Gly) c.3359A>G (p.Glu1120Gly) c.3257A>G (p.Glu1086Gly) c.3362A>G (p.Glu1121Gly) c.2657A>G (p.Glu886Gly) c.2186A>G (p.Glu729Gly) n.3353A>G c.2573A>G (p.Glu858Gly) c.2105A>G (p.Glu702Gly) n.3453A>G n.3305A>G n.3221A>G | |
17 | g.67128760T>G | CA400711270 | HELZ | c.3278A>C (p.Glu1093Ala) c.3281A>C (p.Glu1094Ala) c.3359A>C (p.Glu1120Ala) c.3257A>C (p.Glu1086Ala) c.3362A>C (p.Glu1121Ala) c.2657A>C (p.Glu886Ala) c.2186A>C (p.Glu729Ala) n.3353A>C c.2573A>C (p.Glu858Ala) c.2105A>C (p.Glu702Ala) n.3453A>C n.3305A>C n.3221A>C | |
17 | g.67128761C>A | CA400711274 | HELZ | c.3277G>T (p.Glu1093Ter) c.3280G>T (p.Glu1094Ter) c.3358G>T (p.Glu1120Ter) c.3256G>T (p.Glu1086Ter) c.3361G>T (p.Glu1121Ter) c.2656G>T (p.Glu886Ter) c.2185G>T (p.Glu729Ter) n.3352G>T c.2572G>T (p.Glu858Ter) c.2104G>T (p.Glu702Ter) n.3452G>T n.3304G>T n.3220G>T | |
17 | g.67128761C>G | CA400711276 | HELZ | c.3277G>C (p.Glu1093Gln) c.3280G>C (p.Glu1094Gln) c.3358G>C (p.Glu1120Gln) c.3256G>C (p.Glu1086Gln) c.3361G>C (p.Glu1121Gln) c.2656G>C (p.Glu886Gln) c.2185G>C (p.Glu729Gln) n.3352G>C c.2572G>C (p.Glu858Gln) c.2104G>C (p.Glu702Gln) n.3452G>C n.3304G>C n.3220G>C | |
17 | g.67128761C>T | CA400711278 | HELZ | c.3277G>A (p.Glu1093Lys) c.3280G>A (p.Glu1094Lys) c.3358G>A (p.Glu1120Lys) c.3256G>A (p.Glu1086Lys) c.3361G>A (p.Glu1121Lys) c.2656G>A (p.Glu886Lys) c.2185G>A (p.Glu729Lys) n.3352G>A c.2572G>A (p.Glu858Lys) c.2104G>A (p.Glu702Lys) n.3452G>A n.3304G>A n.3220G>A | |
17 | g.67128762T>A | CA400711281 | HELZ | c.3276A>T (p.Leu1092Phe) c.3279A>T (p.Leu1093Phe) c.3357A>T (p.Leu1119Phe) c.3255A>T (p.Leu1085Phe) c.3360A>T (p.Leu1120Phe) c.2655A>T (p.Leu885Phe) c.2184A>T (p.Leu728Phe) n.3351A>T c.2571A>T (p.Leu857Phe) c.2103A>T (p.Leu701Phe) n.3451A>T n.3303A>T n.3219A>T | |
17 | g.67128762T>C | CA501487663 | HELZ | c.3276A>G (p.Leu1092=) c.3279A>G (p.Leu1093=) c.3357A>G (p.Leu1119=) c.3255A>G (p.Leu1085=) c.3360A>G (p.Leu1120=) c.2655A>G (p.Leu885=) c.2184A>G (p.Leu728=) n.3351A>G c.2571A>G (p.Leu857=) c.2103A>G (p.Leu701=) n.3451A>G n.3303A>G n.3219A>G | |
17 | g.67128762T>G | CA400711283 | HELZ | c.3276A>C (p.Leu1092Phe) c.3279A>C (p.Leu1093Phe) c.3357A>C (p.Leu1119Phe) c.3255A>C (p.Leu1085Phe) c.3360A>C (p.Leu1120Phe) c.2655A>C (p.Leu885Phe) c.2184A>C (p.Leu728Phe) n.3351A>C c.2571A>C (p.Leu857Phe) c.2103A>C (p.Leu701Phe) n.3451A>C n.3303A>C n.3219A>C | |
17 | g.67128763A>C | CA400711285 | HELZ | c.3275T>G (p.Leu1092Ter) c.3278T>G (p.Leu1093Ter) c.3356T>G (p.Leu1119Ter) c.3254T>G (p.Leu1085Ter) c.3359T>G (p.Leu1120Ter) c.2654T>G (p.Leu885Ter) c.2183T>G (p.Leu728Ter) n.3350T>G c.2570T>G (p.Leu857Ter) c.2102T>G (p.Leu701Ter) n.3450T>G n.3302T>G n.3218T>G | |
17 | g.67128763A>G | CA400711287 | HELZ | c.3275T>C (p.Leu1092Ser) c.3278T>C (p.Leu1093Ser) c.3356T>C (p.Leu1119Ser) c.3254T>C (p.Leu1085Ser) c.3359T>C (p.Leu1120Ser) c.2654T>C (p.Leu885Ser) c.2183T>C (p.Leu728Ser) n.3350T>C c.2570T>C (p.Leu857Ser) c.2102T>C (p.Leu701Ser) n.3450T>C n.3302T>C n.3218T>C | |
17 | g.67128763A>T | CA400711289 | HELZ | c.3275T>A (p.Leu1092Ter) c.3278T>A (p.Leu1093Ter) c.3356T>A (p.Leu1119Ter) c.3254T>A (p.Leu1085Ter) c.3359T>A (p.Leu1120Ter) c.2654T>A (p.Leu885Ter) c.2183T>A (p.Leu728Ter) n.3350T>A c.2570T>A (p.Leu857Ter) c.2102T>A (p.Leu701Ter) n.3450T>A n.3302T>A n.3218T>A | |
17 | g.67128764A>C | CA400711292 | HELZ | c.3274T>G (p.Leu1092Val) c.3277T>G (p.Leu1093Val) c.3355T>G (p.Leu1119Val) c.3253T>G (p.Leu1085Val) c.3358T>G (p.Leu1120Val) c.2653T>G (p.Leu885Val) c.2182T>G (p.Leu728Val) n.3349T>G c.2569T>G (p.Leu857Val) c.2101T>G (p.Leu701Val) n.3449T>G n.3301T>G n.3217T>G | |
17 | g.67128764A>G | CA501487664 | HELZ | c.3274T>C (p.Leu1092=) c.3277T>C (p.Leu1093=) c.3355T>C (p.Leu1119=) c.3253T>C (p.Leu1085=) c.3358T>C (p.Leu1120=) c.2653T>C (p.Leu885=) c.2182T>C (p.Leu728=) n.3349T>C c.2569T>C (p.Leu857=) c.2101T>C (p.Leu701=) n.3449T>C n.3301T>C n.3217T>C | |
17 | g.67128764A>T | CA400711293 | HELZ | c.3274T>A (p.Leu1092Ile) c.3277T>A (p.Leu1093Ile) c.3355T>A (p.Leu1119Ile) c.3253T>A (p.Leu1085Ile) c.3358T>A (p.Leu1120Ile) c.2653T>A (p.Leu885Ile) c.2182T>A (p.Leu728Ile) n.3349T>A c.2569T>A (p.Leu857Ile) c.2101T>A (p.Leu701Ile) n.3449T>A n.3301T>A n.3217T>A | |
17 | g.67128765A>C | CA501487665 | HELZ | c.3273T>G (p.Ala1091=) c.3276T>G (p.Ala1092=) c.3354T>G (p.Ala1118=) c.3252T>G (p.Ala1084=) c.3357T>G (p.Ala1119=) c.2652T>G (p.Ala884=) c.2181T>G (p.Ala727=) n.3348T>G c.2568T>G (p.Ala856=) c.2100T>G (p.Ala700=) n.3448T>G n.3300T>G n.3216T>G | |
17 | g.67128765A>G | CA501487666 | HELZ | c.3273T>C (p.Ala1091=) c.3276T>C (p.Ala1092=) c.3354T>C (p.Ala1118=) c.3252T>C (p.Ala1084=) c.3357T>C (p.Ala1119=) c.2652T>C (p.Ala884=) c.2181T>C (p.Ala727=) n.3348T>C c.2568T>C (p.Ala856=) c.2100T>C (p.Ala700=) n.3448T>C n.3300T>C n.3216T>C | |
17 | g.67128765A>T | CA501487667 | HELZ | c.3273T>A (p.Ala1091=) c.3276T>A (p.Ala1092=) c.3354T>A (p.Ala1118=) c.3252T>A (p.Ala1084=) c.3357T>A (p.Ala1119=) c.2652T>A (p.Ala884=) c.2181T>A (p.Ala727=) n.3348T>A c.2568T>A (p.Ala856=) c.2100T>A (p.Ala700=) n.3448T>A n.3300T>A n.3216T>A | |
17 | g.67128766G>A | CA400711298 | HELZ | c.3272C>T (p.Ala1091Val) c.3275C>T (p.Ala1092Val) c.3353C>T (p.Ala1118Val) c.3251C>T (p.Ala1084Val) c.3356C>T (p.Ala1119Val) c.2651C>T (p.Ala884Val) c.2180C>T (p.Ala727Val) n.3347C>T c.2567C>T (p.Ala856Val) c.2099C>T (p.Ala700Val) n.3447C>T n.3299C>T n.3215C>T | |
17 | g.67128766G>C | CA400711299 | HELZ | c.3272C>G (p.Ala1091Gly) c.3275C>G (p.Ala1092Gly) c.3353C>G (p.Ala1118Gly) c.3251C>G (p.Ala1084Gly) c.3356C>G (p.Ala1119Gly) c.2651C>G (p.Ala884Gly) c.2180C>G (p.Ala727Gly) n.3347C>G c.2567C>G (p.Ala856Gly) c.2099C>G (p.Ala700Gly) n.3447C>G n.3299C>G n.3215C>G | |
17 | g.67128766G>T | CA400711297 | HELZ | c.3272C>A (p.Ala1091Asp) c.3275C>A (p.Ala1092Asp) c.3353C>A (p.Ala1118Asp) c.3251C>A (p.Ala1084Asp) c.3356C>A (p.Ala1119Asp) c.2651C>A (p.Ala884Asp) c.2180C>A (p.Ala727Asp) n.3347C>A c.2567C>A (p.Ala856Asp) c.2099C>A (p.Ala700Asp) n.3447C>A n.3299C>A n.3215C>A | |
17 | g.67128767C>A | CA400711300 | HELZ | c.3271G>T (p.Ala1091Ser) c.3274G>T (p.Ala1092Ser) c.3352G>T (p.Ala1118Ser) c.3250G>T (p.Ala1084Ser) c.3355G>T (p.Ala1119Ser) c.2650G>T (p.Ala884Ser) c.2179G>T (p.Ala727Ser) n.3346G>T c.2566G>T (p.Ala856Ser) c.2098G>T (p.Ala700Ser) n.3446G>T n.3298G>T n.3214G>T | |
17 | g.67128767C>G | CA400711301 | HELZ | c.3271G>C (p.Ala1091Pro) c.3274G>C (p.Ala1092Pro) c.3352G>C (p.Ala1118Pro) c.3250G>C (p.Ala1084Pro) c.3355G>C (p.Ala1119Pro) c.2650G>C (p.Ala884Pro) c.2179G>C (p.Ala727Pro) n.3346G>C c.2566G>C (p.Ala856Pro) c.2098G>C (p.Ala700Pro) n.3446G>C n.3298G>C n.3214G>C | |
17 | g.67128767C>T | CA400711302 | HELZ | c.3271G>A (p.Ala1091Thr) c.3274G>A (p.Ala1092Thr) c.3352G>A (p.Ala1118Thr) c.3250G>A (p.Ala1084Thr) c.3355G>A (p.Ala1119Thr) c.2650G>A (p.Ala884Thr) c.2179G>A (p.Ala727Thr) n.3346G>A c.2566G>A (p.Ala856Thr) c.2098G>A (p.Ala700Thr) n.3446G>A n.3298G>A n.3214G>A | gnomAD v4 |
17 | g.67128768C>A | CA400711303 | HELZ | c.3270G>T (p.Glu1090Asp) c.3273G>T (p.Glu1091Asp) c.3351G>T (p.Glu1117Asp) c.3249G>T (p.Glu1083Asp) c.3354G>T (p.Glu1118Asp) c.2649G>T (p.Glu883Asp) c.2178G>T (p.Glu726Asp) n.3345G>T c.2565G>T (p.Glu855Asp) c.2097G>T (p.Glu699Asp) n.3445G>T n.3297G>T n.3213G>T | |
17 | g.67128768C= | CA2271598010 | HELZ | c.3270G= (p.Glu1090=) c.3273G= (p.Glu1091=) c.3351G= (p.Glu1117=) c.3249G= (p.Glu1083=) c.3354G= (p.Glu1118=) c.2649G= (p.Glu883=) c.2178G= (p.Glu726=) n.3345G= c.2565G= (p.Glu855=) c.2097G= (p.Glu699=) n.3445G= n.3297G= n.3213G= | |
17 | g.67128768C>G | CA400711304 | HELZ | c.3270G>C (p.Glu1090Asp) c.3273G>C (p.Glu1091Asp) c.3351G>C (p.Glu1117Asp) c.3249G>C (p.Glu1083Asp) c.3354G>C (p.Glu1118Asp) c.2649G>C (p.Glu883Asp) c.2178G>C (p.Glu726Asp) n.3345G>C c.2565G>C (p.Glu855Asp) c.2097G>C (p.Glu699Asp) n.3445G>C n.3297G>C n.3213G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.67128768C>T | CA501487670 | HELZ | c.3270G>A (p.Glu1090=) c.3273G>A (p.Glu1091=) c.3351G>A (p.Glu1117=) c.3249G>A (p.Glu1083=) c.3354G>A (p.Glu1118=) c.2649G>A (p.Glu883=) c.2178G>A (p.Glu726=) n.3345G>A c.2565G>A (p.Glu855=) c.2097G>A (p.Glu699=) n.3445G>A n.3297G>A n.3213G>A | |
17 | g.67128769T>A | CA400711305 | HELZ | c.3269A>T (p.Glu1090Val) c.3272A>T (p.Glu1091Val) c.3350A>T (p.Glu1117Val) c.3248A>T (p.Glu1083Val) c.3353A>T (p.Glu1118Val) c.2648A>T (p.Glu883Val) c.2177A>T (p.Glu726Val) n.3344A>T c.2564A>T (p.Glu855Val) c.2096A>T (p.Glu699Val) n.3444A>T n.3296A>T n.3212A>T | |
17 | g.67128769T>C | CA400711306 | HELZ | c.3269A>G (p.Glu1090Gly) c.3272A>G (p.Glu1091Gly) c.3350A>G (p.Glu1117Gly) c.3248A>G (p.Glu1083Gly) c.3353A>G (p.Glu1118Gly) c.2648A>G (p.Glu883Gly) c.2177A>G (p.Glu726Gly) n.3344A>G c.2564A>G (p.Glu855Gly) c.2096A>G (p.Glu699Gly) n.3444A>G n.3296A>G n.3212A>G | |
17 | g.67128769T>G | CA400711307 | HELZ | c.3269A>C (p.Glu1090Ala) c.3272A>C (p.Glu1091Ala) c.3350A>C (p.Glu1117Ala) c.3248A>C (p.Glu1083Ala) c.3353A>C (p.Glu1118Ala) c.2648A>C (p.Glu883Ala) c.2177A>C (p.Glu726Ala) n.3344A>C c.2564A>C (p.Glu855Ala) c.2096A>C (p.Glu699Ala) n.3444A>C n.3296A>C n.3212A>C | |
17 | g.67128770C>A | CA400711308 | HELZ | c.3268G>T (p.Glu1090Ter) c.3271G>T (p.Glu1091Ter) c.3349G>T (p.Glu1117Ter) c.3247G>T (p.Glu1083Ter) c.3352G>T (p.Glu1118Ter) c.2647G>T (p.Glu883Ter) c.2176G>T (p.Glu726Ter) n.3343G>T c.2563G>T (p.Glu855Ter) c.2095G>T (p.Glu699Ter) n.3443G>T n.3295G>T n.3211G>T | dbSNP |
17 | g.67128770C>G | CA400711309 | HELZ | c.3268G>C (p.Glu1090Gln) c.3271G>C (p.Glu1091Gln) c.3349G>C (p.Glu1117Gln) c.3247G>C (p.Glu1083Gln) c.3352G>C (p.Glu1118Gln) c.2647G>C (p.Glu883Gln) c.2176G>C (p.Glu726Gln) n.3343G>C c.2563G>C (p.Glu855Gln) c.2095G>C (p.Glu699Gln) n.3443G>C n.3295G>C n.3211G>C | |
17 | g.67128770C>T | CA400711310 | HELZ | c.3268G>A (p.Glu1090Lys) c.3271G>A (p.Glu1091Lys) c.3349G>A (p.Glu1117Lys) c.3247G>A (p.Glu1083Lys) c.3352G>A (p.Glu1118Lys) c.2647G>A (p.Glu883Lys) c.2176G>A (p.Glu726Lys) n.3343G>A c.2563G>A (p.Glu855Lys) c.2095G>A (p.Glu699Lys) n.3443G>A n.3295G>A n.3211G>A | |
17 | g.67128771T>A | CA400711311 | HELZ | c.3267A>T (p.Leu1089Phe) c.3270A>T (p.Leu1090Phe) c.3348A>T (p.Leu1116Phe) c.3246A>T (p.Leu1082Phe) c.3351A>T (p.Leu1117Phe) c.2646A>T (p.Leu882Phe) c.2175A>T (p.Leu725Phe) n.3342A>T c.2562A>T (p.Leu854Phe) c.2094A>T (p.Leu698Phe) n.3442A>T n.3294A>T n.3210A>T | |
17 | g.67128771T>C | CA501487673 | HELZ | c.3267A>G (p.Leu1089=) c.3270A>G (p.Leu1090=) c.3348A>G (p.Leu1116=) c.3246A>G (p.Leu1082=) c.3351A>G (p.Leu1117=) c.2646A>G (p.Leu882=) c.2175A>G (p.Leu725=) n.3342A>G c.2562A>G (p.Leu854=) c.2094A>G (p.Leu698=) n.3442A>G n.3294A>G n.3210A>G | |
17 | g.67128771T>G | CA400711312 | HELZ | c.3267A>C (p.Leu1089Phe) c.3270A>C (p.Leu1090Phe) c.3348A>C (p.Leu1116Phe) c.3246A>C (p.Leu1082Phe) c.3351A>C (p.Leu1117Phe) c.2646A>C (p.Leu882Phe) c.2175A>C (p.Leu725Phe) n.3342A>C c.2562A>C (p.Leu854Phe) c.2094A>C (p.Leu698Phe) n.3442A>C n.3294A>C n.3210A>C | |
17 | g.67128772A>C | CA400711315 | HELZ | c.3266T>G (p.Leu1089Ter) c.3269T>G (p.Leu1090Ter) c.3347T>G (p.Leu1116Ter) c.3245T>G (p.Leu1082Ter) c.3350T>G (p.Leu1117Ter) c.2645T>G (p.Leu882Ter) c.2174T>G (p.Leu725Ter) n.3341T>G c.2561T>G (p.Leu854Ter) c.2093T>G (p.Leu698Ter) n.3441T>G n.3293T>G n.3209T>G | |
17 | g.67128772A>G | CA400711314 | HELZ | c.3266T>C (p.Leu1089Ser) c.3269T>C (p.Leu1090Ser) c.3347T>C (p.Leu1116Ser) c.3245T>C (p.Leu1082Ser) c.3350T>C (p.Leu1117Ser) c.2645T>C (p.Leu882Ser) c.2174T>C (p.Leu725Ser) n.3341T>C c.2561T>C (p.Leu854Ser) c.2093T>C (p.Leu698Ser) n.3441T>C n.3293T>C n.3209T>C | |
17 | g.67128772A>T | CA400711313 | HELZ | c.3266T>A (p.Leu1089Ter) c.3269T>A (p.Leu1090Ter) c.3347T>A (p.Leu1116Ter) c.3245T>A (p.Leu1082Ter) c.3350T>A (p.Leu1117Ter) c.2645T>A (p.Leu882Ter) c.2174T>A (p.Leu725Ter) n.3341T>A c.2561T>A (p.Leu854Ter) c.2093T>A (p.Leu698Ter) n.3441T>A n.3293T>A n.3209T>A | |
17 | g.67128773A>C | CA400711316 | HELZ | c.3265T>G (p.Leu1089Val) c.3268T>G (p.Leu1090Val) c.3346T>G (p.Leu1116Val) c.3244T>G (p.Leu1082Val) c.3349T>G (p.Leu1117Val) c.2644T>G (p.Leu882Val) c.2173T>G (p.Leu725Val) n.3340T>G c.2560T>G (p.Leu854Val) c.2092T>G (p.Leu698Val) n.3440T>G n.3292T>G n.3208T>G | |
17 | g.67128773A>G | CA501487675 | HELZ | c.3265T>C (p.Leu1089=) c.3268T>C (p.Leu1090=) c.3346T>C (p.Leu1116=) c.3244T>C (p.Leu1082=) c.3349T>C (p.Leu1117=) c.2644T>C (p.Leu882=) c.2173T>C (p.Leu725=) n.3340T>C c.2560T>C (p.Leu854=) c.2092T>C (p.Leu698=) n.3440T>C n.3292T>C n.3208T>C | |
17 | g.67128773A>T | CA400711317 | HELZ | c.3265T>A (p.Leu1089Ile) c.3268T>A (p.Leu1090Ile) c.3346T>A (p.Leu1116Ile) c.3244T>A (p.Leu1082Ile) c.3349T>A (p.Leu1117Ile) c.2644T>A (p.Leu882Ile) c.2173T>A (p.Leu725Ile) n.3340T>A c.2560T>A (p.Leu854Ile) c.2092T>A (p.Leu698Ile) n.3440T>A n.3292T>A n.3208T>A | |
17 | g.67128774C>A | CA400711318 | HELZ | c.3264G>T (p.Gln1088His) c.3267G>T (p.Gln1089His) c.3345G>T (p.Gln1115His) c.3243G>T (p.Gln1081His) c.3348G>T (p.Gln1116His) c.2643G>T (p.Gln881His) c.2172G>T (p.Gln724His) n.3339G>T c.2559G>T (p.Gln853His) c.2091G>T (p.Gln697His) n.3439G>T n.3291G>T n.3207G>T | |
17 | g.67128774C= | CA2271598011 | HELZ | c.3264G= (p.Gln1088=) c.3267G= (p.Gln1089=) c.3345G= (p.Gln1115=) c.3243G= (p.Gln1081=) c.3348G= (p.Gln1116=) c.2643G= (p.Gln881=) c.2172G= (p.Gln724=) n.3339G= c.2559G= (p.Gln853=) c.2091G= (p.Gln697=) n.3439G= n.3291G= n.3207G= | |
17 | g.67128774C>G | CA400711319 | HELZ | c.3264G>C (p.Gln1088His) c.3267G>C (p.Gln1089His) c.3345G>C (p.Gln1115His) c.3243G>C (p.Gln1081His) c.3348G>C (p.Gln1116His) c.2643G>C (p.Gln881His) c.2172G>C (p.Gln724His) n.3339G>C c.2559G>C (p.Gln853His) c.2091G>C (p.Gln697His) n.3439G>C n.3291G>C n.3207G>C | |
17 | g.67128774C>T | CA501487676 | HELZ | c.3264G>A (p.Gln1088=) c.3267G>A (p.Gln1089=) c.3345G>A (p.Gln1115=) c.3243G>A (p.Gln1081=) c.3348G>A (p.Gln1116=) c.2643G>A (p.Gln881=) c.2172G>A (p.Gln724=) n.3339G>A c.2559G>A (p.Gln853=) c.2091G>A (p.Gln697=) n.3439G>A n.3291G>A n.3207G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.67128775T>A | CA400711320 | HELZ | c.3263A>T (p.Gln1088Leu) c.3266A>T (p.Gln1089Leu) c.3344A>T (p.Gln1115Leu) c.3242A>T (p.Gln1081Leu) c.3347A>T (p.Gln1116Leu) c.2642A>T (p.Gln881Leu) c.2171A>T (p.Gln724Leu) n.3338A>T c.2558A>T (p.Gln853Leu) c.2090A>T (p.Gln697Leu) n.3438A>T n.3290A>T n.3206A>T | |
17 | g.67128775T>C | CA400711321 | HELZ | c.3263A>G (p.Gln1088Arg) c.3266A>G (p.Gln1089Arg) c.3344A>G (p.Gln1115Arg) c.3242A>G (p.Gln1081Arg) c.3347A>G (p.Gln1116Arg) c.2642A>G (p.Gln881Arg) c.2171A>G (p.Gln724Arg) n.3338A>G c.2558A>G (p.Gln853Arg) c.2090A>G (p.Gln697Arg) n.3438A>G n.3290A>G n.3206A>G | |
17 | g.67128775T>G | CA400711322 | HELZ | c.3263A>C (p.Gln1088Pro) c.3266A>C (p.Gln1089Pro) c.3344A>C (p.Gln1115Pro) c.3242A>C (p.Gln1081Pro) c.3347A>C (p.Gln1116Pro) c.2642A>C (p.Gln881Pro) c.2171A>C (p.Gln724Pro) n.3338A>C c.2558A>C (p.Gln853Pro) c.2090A>C (p.Gln697Pro) n.3438A>C n.3290A>C n.3206A>C | |
17 | g.67128776G>A | CA400711323 | HELZ | c.3262C>T (p.Gln1088Ter) c.3265C>T (p.Gln1089Ter) c.3343C>T (p.Gln1115Ter) c.3241C>T (p.Gln1081Ter) c.3346C>T (p.Gln1116Ter) c.2641C>T (p.Gln881Ter) c.2170C>T (p.Gln724Ter) n.3337C>T c.2557C>T (p.Gln853Ter) c.2089C>T (p.Gln697Ter) n.3437C>T n.3289C>T n.3205C>T | |
17 | g.67128776G>C | CA400711324 | HELZ | c.3262C>G (p.Gln1088Glu) c.3265C>G (p.Gln1089Glu) c.3343C>G (p.Gln1115Glu) c.3241C>G (p.Gln1081Glu) c.3346C>G (p.Gln1116Glu) c.2641C>G (p.Gln881Glu) c.2170C>G (p.Gln724Glu) n.3337C>G c.2557C>G (p.Gln853Glu) c.2089C>G (p.Gln697Glu) n.3437C>G n.3289C>G n.3205C>G | |
17 | g.67128776G>T | CA400711325 | HELZ | c.3262C>A (p.Gln1088Lys) c.3265C>A (p.Gln1089Lys) c.3343C>A (p.Gln1115Lys) c.3241C>A (p.Gln1081Lys) c.3346C>A (p.Gln1116Lys) c.2641C>A (p.Gln881Lys) c.2170C>A (p.Gln724Lys) n.3337C>A c.2557C>A (p.Gln853Lys) c.2089C>A (p.Gln697Lys) n.3437C>A n.3289C>A n.3205C>A | |
17 | g.67128777G>A | CA501487679 | HELZ | c.3261C>T (p.Ala1087=) c.3264C>T (p.Ala1088=) c.3342C>T (p.Ala1114=) c.3240C>T (p.Ala1080=) c.3345C>T (p.Ala1115=) c.2640C>T (p.Ala880=) c.2169C>T (p.Ala723=) n.3336C>T c.2556C>T (p.Ala852=) c.2088C>T (p.Ala696=) n.3436C>T n.3288C>T n.3204C>T | |
17 | g.67128777G>C | CA501487680 | HELZ | c.3261C>G (p.Ala1087=) c.3264C>G (p.Ala1088=) c.3342C>G (p.Ala1114=) c.3240C>G (p.Ala1080=) c.3345C>G (p.Ala1115=) c.2640C>G (p.Ala880=) c.2169C>G (p.Ala723=) n.3336C>G c.2556C>G (p.Ala852=) c.2088C>G (p.Ala696=) n.3436C>G n.3288C>G n.3204C>G | |
17 | g.67128777G>T | CA501487678 | HELZ | c.3261C>A (p.Ala1087=) c.3264C>A (p.Ala1088=) c.3342C>A (p.Ala1114=) c.3240C>A (p.Ala1080=) c.3345C>A (p.Ala1115=) c.2640C>A (p.Ala880=) c.2169C>A (p.Ala723=) n.3336C>A c.2556C>A (p.Ala852=) c.2088C>A (p.Ala696=) n.3436C>A n.3288C>A n.3204C>A | |
17 | g.67128778G>A | CA400711326 | HELZ | c.3260C>T (p.Ala1087Val) c.3263C>T (p.Ala1088Val) c.3341C>T (p.Ala1114Val) c.3239C>T (p.Ala1080Val) c.3344C>T (p.Ala1115Val) c.2639C>T (p.Ala880Val) c.2168C>T (p.Ala723Val) n.3335C>T c.2555C>T (p.Ala852Val) c.2087C>T (p.Ala696Val) n.3435C>T n.3287C>T n.3203C>T | |
17 | g.67128778G>C | CA400711327 | HELZ | c.3260C>G (p.Ala1087Gly) c.3263C>G (p.Ala1088Gly) c.3341C>G (p.Ala1114Gly) c.3239C>G (p.Ala1080Gly) c.3344C>G (p.Ala1115Gly) c.2639C>G (p.Ala880Gly) c.2168C>G (p.Ala723Gly) n.3335C>G c.2555C>G (p.Ala852Gly) c.2087C>G (p.Ala696Gly) n.3435C>G n.3287C>G n.3203C>G | |
17 | g.67128778G>T | CA400711328 | HELZ | c.3260C>A (p.Ala1087Asp) c.3263C>A (p.Ala1088Asp) c.3341C>A (p.Ala1114Asp) c.3239C>A (p.Ala1080Asp) c.3344C>A (p.Ala1115Asp) c.2639C>A (p.Ala880Asp) c.2168C>A (p.Ala723Asp) n.3335C>A c.2555C>A (p.Ala852Asp) c.2087C>A (p.Ala696Asp) n.3435C>A n.3287C>A n.3203C>A | |
17 | g.67128779C>A | CA400711330 | HELZ | c.3259G>T (p.Ala1087Ser) c.3262G>T (p.Ala1088Ser) c.3340G>T (p.Ala1114Ser) c.3238G>T (p.Ala1080Ser) c.3343G>T (p.Ala1115Ser) c.2638G>T (p.Ala880Ser) c.2167G>T (p.Ala723Ser) n.3334G>T c.2554G>T (p.Ala852Ser) c.2086G>T (p.Ala696Ser) n.3434G>T n.3286G>T n.3202G>T | |
17 | g.67128779C>G | CA400711331 | HELZ | c.3259G>C (p.Ala1087Pro) c.3262G>C (p.Ala1088Pro) c.3340G>C (p.Ala1114Pro) c.3238G>C (p.Ala1080Pro) c.3343G>C (p.Ala1115Pro) c.2638G>C (p.Ala880Pro) c.2167G>C (p.Ala723Pro) n.3334G>C c.2554G>C (p.Ala852Pro) c.2086G>C (p.Ala696Pro) n.3434G>C n.3286G>C n.3202G>C | |
17 | g.67128779C>T | CA400711329 | HELZ | c.3259G>A (p.Ala1087Thr) c.3262G>A (p.Ala1088Thr) c.3340G>A (p.Ala1114Thr) c.3238G>A (p.Ala1080Thr) c.3343G>A (p.Ala1115Thr) c.2638G>A (p.Ala880Thr) c.2167G>A (p.Ala723Thr) n.3334G>A c.2554G>A (p.Ala852Thr) c.2086G>A (p.Ala696Thr) n.3434G>A n.3286G>A n.3202G>A | gnomAD v4 |
17 | g.67128780T>A | CA400711333 | HELZ | c.3258A>T (p.Lys1086Asn) c.3261A>T (p.Lys1087Asn) c.3339A>T (p.Lys1113Asn) c.3237A>T (p.Lys1079Asn) c.3342A>T (p.Lys1114Asn) c.2637A>T (p.Lys879Asn) c.2166A>T (p.Lys722Asn) n.3333A>T c.2553A>T (p.Lys851Asn) c.2085A>T (p.Lys695Asn) n.3433A>T n.3285A>T n.3201A>T | |
17 | g.67128780T>C | CA501487681 | HELZ | c.3258A>G (p.Lys1086=) c.3261A>G (p.Lys1087=) c.3339A>G (p.Lys1113=) c.3237A>G (p.Lys1079=) c.3342A>G (p.Lys1114=) c.2637A>G (p.Lys879=) c.2166A>G (p.Lys722=) n.3333A>G c.2553A>G (p.Lys851=) c.2085A>G (p.Lys695=) n.3433A>G n.3285A>G n.3201A>G | |
17 | g.67128780T>G | CA400711332 | HELZ | c.3258A>C (p.Lys1086Asn) c.3261A>C (p.Lys1087Asn) c.3339A>C (p.Lys1113Asn) c.3237A>C (p.Lys1079Asn) c.3342A>C (p.Lys1114Asn) c.2637A>C (p.Lys879Asn) c.2166A>C (p.Lys722Asn) n.3333A>C c.2553A>C (p.Lys851Asn) c.2085A>C (p.Lys695Asn) n.3433A>C n.3285A>C n.3201A>C | |
17 | g.67128781T>A | CA400711336 | HELZ | c.3257A>T (p.Lys1086Ile) c.3260A>T (p.Lys1087Ile) c.3338A>T (p.Lys1113Ile) c.3236A>T (p.Lys1079Ile) c.3341A>T (p.Lys1114Ile) c.2636A>T (p.Lys879Ile) c.2165A>T (p.Lys722Ile) n.3332A>T c.2552A>T (p.Lys851Ile) c.2084A>T (p.Lys695Ile) n.3432A>T n.3284A>T n.3200A>T | |
17 | g.67128781T>C | CA400711334 | HELZ | c.3257A>G (p.Lys1086Arg) c.3260A>G (p.Lys1087Arg) c.3338A>G (p.Lys1113Arg) c.3236A>G (p.Lys1079Arg) c.3341A>G (p.Lys1114Arg) c.2636A>G (p.Lys879Arg) c.2165A>G (p.Lys722Arg) n.3332A>G c.2552A>G (p.Lys851Arg) c.2084A>G (p.Lys695Arg) n.3432A>G n.3284A>G n.3200A>G | |
17 | g.67128781T>G | CA400711335 | HELZ | c.3257A>C (p.Lys1086Thr) c.3260A>C (p.Lys1087Thr) c.3338A>C (p.Lys1113Thr) c.3236A>C (p.Lys1079Thr) c.3341A>C (p.Lys1114Thr) c.2636A>C (p.Lys879Thr) c.2165A>C (p.Lys722Thr) n.3332A>C c.2552A>C (p.Lys851Thr) c.2084A>C (p.Lys695Thr) n.3432A>C n.3284A>C n.3200A>C | dbSNP |
17 | g.67128781T= | CA2271598012 | HELZ | c.3257A= (p.Lys1086=) c.3260A= (p.Lys1087=) c.3338A= (p.Lys1113=) c.3236A= (p.Lys1079=) c.3341A= (p.Lys1114=) c.2636A= (p.Lys879=) c.2165A= (p.Lys722=) n.3332A= c.2552A= (p.Lys851=) c.2084A= (p.Lys695=) n.3432A= n.3284A= n.3200A= | |
17 | g.67128782T>A | CA400711337 | HELZ | c.3256A>T (p.Lys1086Ter) c.3259A>T (p.Lys1087Ter) c.3337A>T (p.Lys1113Ter) c.3235A>T (p.Lys1079Ter) c.3340A>T (p.Lys1114Ter) c.2635A>T (p.Lys879Ter) c.2164A>T (p.Lys722Ter) n.3331A>T c.2551A>T (p.Lys851Ter) c.2083A>T (p.Lys695Ter) n.3431A>T n.3283A>T n.3199A>T | |
17 | g.67128782T>C | CA400711338 | HELZ | c.3256A>G (p.Lys1086Glu) c.3259A>G (p.Lys1087Glu) c.3337A>G (p.Lys1113Glu) c.3235A>G (p.Lys1079Glu) c.3340A>G (p.Lys1114Glu) c.2635A>G (p.Lys879Glu) c.2164A>G (p.Lys722Glu) n.3331A>G c.2551A>G (p.Lys851Glu) c.2083A>G (p.Lys695Glu) n.3431A>G n.3283A>G n.3199A>G | |
17 | g.67128782T>G | CA400711339 | HELZ | c.3256A>C (p.Lys1086Gln) c.3259A>C (p.Lys1087Gln) c.3337A>C (p.Lys1113Gln) c.3235A>C (p.Lys1079Gln) c.3340A>C (p.Lys1114Gln) c.2635A>C (p.Lys879Gln) c.2164A>C (p.Lys722Gln) n.3331A>C c.2551A>C (p.Lys851Gln) c.2083A>C (p.Lys695Gln) n.3431A>C n.3283A>C n.3199A>C | |
17 | g.67128783G>A | CA501487682 | HELZ | c.3255C>T (p.Ile1085=) c.3258C>T (p.Ile1086=) c.3336C>T (p.Ile1112=) c.3234C>T (p.Ile1078=) c.3339C>T (p.Ile1113=) c.2634C>T (p.Ile878=) c.2163C>T (p.Ile721=) n.3330C>T c.2550C>T (p.Ile850=) c.2082C>T (p.Ile694=) n.3430C>T n.3282C>T n.3198C>T | |
17 | g.67128783G>C | CA400711340 | HELZ | c.3255C>G (p.Ile1085Met) c.3258C>G (p.Ile1086Met) c.3336C>G (p.Ile1112Met) c.3234C>G (p.Ile1078Met) c.3339C>G (p.Ile1113Met) c.2634C>G (p.Ile878Met) c.2163C>G (p.Ile721Met) n.3330C>G c.2550C>G (p.Ile850Met) c.2082C>G (p.Ile694Met) n.3430C>G n.3282C>G n.3198C>G | COSMIC |
17 | g.67128783G>T | CA501487683 | HELZ | c.3255C>A (p.Ile1085=) c.3258C>A (p.Ile1086=) c.3336C>A (p.Ile1112=) c.3234C>A (p.Ile1078=) c.3339C>A (p.Ile1113=) c.2634C>A (p.Ile878=) c.2163C>A (p.Ile721=) n.3330C>A c.2550C>A (p.Ile850=) c.2082C>A (p.Ile694=) n.3430C>A n.3282C>A n.3198C>A | |
17 | g.67128784A>C | CA400711341 | HELZ | c.3254T>G (p.Ile1085Ser) c.3257T>G (p.Ile1086Ser) c.3335T>G (p.Ile1112Ser) c.3233T>G (p.Ile1078Ser) c.3338T>G (p.Ile1113Ser) c.2633T>G (p.Ile878Ser) c.2162T>G (p.Ile721Ser) n.3329T>G c.2549T>G (p.Ile850Ser) c.2081T>G (p.Ile694Ser) n.3429T>G n.3281T>G n.3197T>G | |
17 | g.67128784A>G | CA400711342 | HELZ | c.3254T>C (p.Ile1085Thr) c.3257T>C (p.Ile1086Thr) c.3335T>C (p.Ile1112Thr) c.3233T>C (p.Ile1078Thr) c.3338T>C (p.Ile1113Thr) c.2633T>C (p.Ile878Thr) c.2162T>C (p.Ile721Thr) n.3329T>C c.2549T>C (p.Ile850Thr) c.2081T>C (p.Ile694Thr) n.3429T>C n.3281T>C n.3197T>C | |
17 | g.67128784A>T | CA400711343 | HELZ | c.3254T>A (p.Ile1085Asn) c.3257T>A (p.Ile1086Asn) c.3335T>A (p.Ile1112Asn) c.3233T>A (p.Ile1078Asn) c.3338T>A (p.Ile1113Asn) c.2633T>A (p.Ile878Asn) c.2162T>A (p.Ile721Asn) n.3329T>A c.2549T>A (p.Ile850Asn) c.2081T>A (p.Ile694Asn) n.3429T>A n.3281T>A n.3197T>A | |
17 | g.67128785T>A | CA400711344 | HELZ | c.3253A>T (p.Ile1085Phe) c.3256A>T (p.Ile1086Phe) c.3334A>T (p.Ile1112Phe) c.3232A>T (p.Ile1078Phe) c.3337A>T (p.Ile1113Phe) c.2632A>T (p.Ile878Phe) c.2161A>T (p.Ile721Phe) n.3328A>T c.2548A>T (p.Ile850Phe) c.2080A>T (p.Ile694Phe) n.3428A>T n.3280A>T n.3196A>T | |
17 | g.67128785T>C | CA400711345 | HELZ | c.3253A>G (p.Ile1085Val) c.3256A>G (p.Ile1086Val) c.3334A>G (p.Ile1112Val) c.3232A>G (p.Ile1078Val) c.3337A>G (p.Ile1113Val) c.2632A>G (p.Ile878Val) c.2161A>G (p.Ile721Val) n.3328A>G c.2548A>G (p.Ile850Val) c.2080A>G (p.Ile694Val) n.3428A>G n.3280A>G n.3196A>G | |
17 | g.67128785T>G | CA400711346 | HELZ | c.3253A>C (p.Ile1085Leu) c.3256A>C (p.Ile1086Leu) c.3334A>C (p.Ile1112Leu) c.3232A>C (p.Ile1078Leu) c.3337A>C (p.Ile1113Leu) c.2632A>C (p.Ile878Leu) c.2161A>C (p.Ile721Leu) n.3328A>C c.2548A>C (p.Ile850Leu) c.2080A>C (p.Ile694Leu) n.3428A>C n.3280A>C n.3196A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.67128785T= | CA2271598013 | HELZ | c.3253A= (p.Ile1085=) c.3256A= (p.Ile1086=) c.3334A= (p.Ile1112=) c.3232A= (p.Ile1078=) c.3337A= (p.Ile1113=) c.2632A= (p.Ile878=) c.2161A= (p.Ile721=) n.3328A= c.2548A= (p.Ile850=) c.2080A= (p.Ile694=) n.3428A= n.3280A= n.3196A= | |
17 | g.67128786C>A | CA400711347 | HELZ | c.3252G>T (p.Gln1084His) c.3255G>T (p.Gln1085His) c.3333G>T (p.Gln1111His) c.3231G>T (p.Gln1077His) c.3336G>T (p.Gln1112His) c.2631G>T (p.Gln877His) c.2160G>T (p.Gln720His) n.3327G>T c.2547G>T (p.Gln849His) c.2079G>T (p.Gln693His) n.3427G>T n.3279G>T n.3195G>T | |
17 | g.67128786C>G | CA400711348 | HELZ | c.3252G>C (p.Gln1084His) c.3255G>C (p.Gln1085His) c.3333G>C (p.Gln1111His) c.3231G>C (p.Gln1077His) c.3336G>C (p.Gln1112His) c.2631G>C (p.Gln877His) c.2160G>C (p.Gln720His) n.3327G>C c.2547G>C (p.Gln849His) c.2079G>C (p.Gln693His) n.3427G>C n.3279G>C n.3195G>C | gnomAD v4 |
17 | g.67128786C>T | CA501487684 | HELZ | c.3252G>A (p.Gln1084=) c.3255G>A (p.Gln1085=) c.3333G>A (p.Gln1111=) c.3231G>A (p.Gln1077=) c.3336G>A (p.Gln1112=) c.2631G>A (p.Gln877=) c.2160G>A (p.Gln720=) n.3327G>A c.2547G>A (p.Gln849=) c.2079G>A (p.Gln693=) n.3427G>A n.3279G>A n.3195G>A | |
17 | g.67128787T>A | CA400711349 | HELZ | c.3251A>T (p.Gln1084Leu) c.3254A>T (p.Gln1085Leu) c.3332A>T (p.Gln1111Leu) c.3230A>T (p.Gln1077Leu) c.3335A>T (p.Gln1112Leu) c.2630A>T (p.Gln877Leu) c.2159A>T (p.Gln720Leu) n.3326A>T c.2546A>T (p.Gln849Leu) c.2078A>T (p.Gln693Leu) n.3426A>T n.3278A>T n.3194A>T | |
17 | g.67128787T>C | CA400711350 | HELZ | c.3251A>G (p.Gln1084Arg) c.3254A>G (p.Gln1085Arg) c.3332A>G (p.Gln1111Arg) c.3230A>G (p.Gln1077Arg) c.3335A>G (p.Gln1112Arg) c.2630A>G (p.Gln877Arg) c.2159A>G (p.Gln720Arg) n.3326A>G c.2546A>G (p.Gln849Arg) c.2078A>G (p.Gln693Arg) n.3426A>G n.3278A>G n.3194A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.67128787T>G | CA400711351 | HELZ | c.3251A>C (p.Gln1084Pro) c.3254A>C (p.Gln1085Pro) c.3332A>C (p.Gln1111Pro) c.3230A>C (p.Gln1077Pro) c.3335A>C (p.Gln1112Pro) c.2630A>C (p.Gln877Pro) c.2159A>C (p.Gln720Pro) n.3326A>C c.2546A>C (p.Gln849Pro) c.2078A>C (p.Gln693Pro) n.3426A>C n.3278A>C n.3194A>C | |
17 | g.67128787T= | CA2271598014 | HELZ | c.3251A= (p.Gln1084=) c.3254A= (p.Gln1085=) c.3332A= (p.Gln1111=) c.3230A= (p.Gln1077=) c.3335A= (p.Gln1112=) c.2630A= (p.Gln877=) c.2159A= (p.Gln720=) n.3326A= c.2546A= (p.Gln849=) c.2078A= (p.Gln693=) n.3426A= n.3278A= n.3194A= | |
17 | g.67128788G>A | CA400711352 | HELZ | c.3250C>T (p.Gln1084Ter) c.3253C>T (p.Gln1085Ter) c.3331C>T (p.Gln1111Ter) c.3229C>T (p.Gln1077Ter) c.3334C>T (p.Gln1112Ter) c.2629C>T (p.Gln877Ter) c.2158C>T (p.Gln720Ter) n.3325C>T c.2545C>T (p.Gln849Ter) c.2077C>T (p.Gln693Ter) n.3425C>T n.3277C>T n.3193C>T | gnomAD v4 |
17 | g.67128788G>C | CA400711353 | HELZ | c.3250C>G (p.Gln1084Glu) c.3253C>G (p.Gln1085Glu) c.3331C>G (p.Gln1111Glu) c.3229C>G (p.Gln1077Glu) c.3334C>G (p.Gln1112Glu) c.2629C>G (p.Gln877Glu) c.2158C>G (p.Gln720Glu) n.3325C>G c.2545C>G (p.Gln849Glu) c.2077C>G (p.Gln693Glu) n.3425C>G n.3277C>G n.3193C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.67128788G= | CA2271598015 | HELZ | c.3250C= (p.Gln1084=) c.3253C= (p.Gln1085=) c.3331C= (p.Gln1111=) c.3229C= (p.Gln1077=) c.3334C= (p.Gln1112=) c.2629C= (p.Gln877=) c.2158C= (p.Gln720=) n.3325C= c.2545C= (p.Gln849=) c.2077C= (p.Gln693=) n.3425C= n.3277C= n.3193C= | |
17 | g.67128788G>T | CA400711354 | HELZ | c.3250C>A (p.Gln1084Lys) c.3253C>A (p.Gln1085Lys) c.3331C>A (p.Gln1111Lys) c.3229C>A (p.Gln1077Lys) c.3334C>A (p.Gln1112Lys) c.2629C>A (p.Gln877Lys) c.2158C>A (p.Gln720Lys) n.3325C>A c.2545C>A (p.Gln849Lys) c.2077C>A (p.Gln693Lys) n.3425C>A n.3277C>A n.3193C>A | |
17 | g.67128789T>A | CA400711355 | HELZ | c.3249A>T (p.Glu1083Asp) c.3252A>T (p.Glu1084Asp) c.3330A>T (p.Glu1110Asp) c.3228A>T (p.Glu1076Asp) c.3333A>T (p.Glu1111Asp) c.2628A>T (p.Glu876Asp) c.2157A>T (p.Glu719Asp) n.3324A>T c.2544A>T (p.Glu848Asp) c.2076A>T (p.Glu692Asp) n.3424A>T n.3276A>T n.3192A>T | |
17 | g.67128789T>C | CA501487685 | HELZ | c.3249A>G (p.Glu1083=) c.3252A>G (p.Glu1084=) c.3330A>G (p.Glu1110=) c.3228A>G (p.Glu1076=) c.3333A>G (p.Glu1111=) c.2628A>G (p.Glu876=) c.2157A>G (p.Glu719=) n.3324A>G c.2544A>G (p.Glu848=) c.2076A>G (p.Glu692=) n.3424A>G n.3276A>G n.3192A>G | dbSNP |
17 | g.67128789T>G | CA400711356 | HELZ | c.3249A>C (p.Glu1083Asp) c.3252A>C (p.Glu1084Asp) c.3330A>C (p.Glu1110Asp) c.3228A>C (p.Glu1076Asp) c.3333A>C (p.Glu1111Asp) c.2628A>C (p.Glu876Asp) c.2157A>C (p.Glu719Asp) n.3324A>C c.2544A>C (p.Glu848Asp) c.2076A>C (p.Glu692Asp) n.3424A>C n.3276A>C n.3192A>C | |
17 | g.67128789T= | CA2271598016 | HELZ | c.3249A= (p.Glu1083=) c.3252A= (p.Glu1084=) c.3330A= (p.Glu1110=) c.3228A= (p.Glu1076=) c.3333A= (p.Glu1111=) c.2628A= (p.Glu876=) c.2157A= (p.Glu719=) n.3324A= c.2544A= (p.Glu848=) c.2076A= (p.Glu692=) n.3424A= n.3276A= n.3192A= | |
17 | g.67128790T>A | CA400711357 | HELZ | c.3248A>T (p.Glu1083Val) c.3251A>T (p.Glu1084Val) c.3329A>T (p.Glu1110Val) c.3227A>T (p.Glu1076Val) c.3332A>T (p.Glu1111Val) c.2627A>T (p.Glu876Val) c.2156A>T (p.Glu719Val) n.3323A>T c.2543A>T (p.Glu848Val) c.2075A>T (p.Glu692Val) n.3423A>T n.3275A>T n.3191A>T | |
17 | g.67128790T>C | CA400711358 | HELZ | c.3248A>G (p.Glu1083Gly) c.3251A>G (p.Glu1084Gly) c.3329A>G (p.Glu1110Gly) c.3227A>G (p.Glu1076Gly) c.3332A>G (p.Glu1111Gly) c.2627A>G (p.Glu876Gly) c.2156A>G (p.Glu719Gly) n.3323A>G c.2543A>G (p.Glu848Gly) c.2075A>G (p.Glu692Gly) n.3423A>G n.3275A>G n.3191A>G | gnomAD v4 COSMIC |
17 | g.67128790T>G | CA400711359 | HELZ | c.3248A>C (p.Glu1083Ala) c.3251A>C (p.Glu1084Ala) c.3329A>C (p.Glu1110Ala) c.3227A>C (p.Glu1076Ala) c.3332A>C (p.Glu1111Ala) c.2627A>C (p.Glu876Ala) c.2156A>C (p.Glu719Ala) n.3323A>C c.2543A>C (p.Glu848Ala) c.2075A>C (p.Glu692Ala) n.3423A>C n.3275A>C n.3191A>C | |
17 | g.67128790_67128791delinsAT | CA645570859 | HELZ | c.3247_3248delinsAT (p.Glu1083Ile) c.3250_3251delinsAT (p.Glu1084Ile) c.3328_3329delinsAT (p.Glu1110Ile) c.3226_3227delinsAT (p.Glu1076Ile) c.3331_3332delinsAT (p.Glu1111Ile) c.2626_2627delinsAT (p.Glu876Ile) c.2155_2156delinsAT (p.Glu719Ile) n.3322_3323delinsAT c.2542_2543delinsAT (p.Glu848Ile) c.2074_2075delinsAT (p.Glu692Ile) n.3422_3423delinsAT n.3274_3275delinsAT n.3190_3191delinsAT | COSMIC |
17 | g.67128791del | CA2734078451 | HELZ | c.3247del (p.Glu1083AsnfsTer7) c.3250del (p.Glu1084AsnfsTer7) c.3328del (p.Glu1110AsnfsTer7) c.3226del (p.Glu1076AsnfsTer7) c.3331del (p.Glu1111AsnfsTer7) c.2626del (p.Glu876AsnfsTer7) c.2155del (p.Glu719AsnfsTer7) n.3322del c.2542del (p.Glu848AsnfsTer7) c.2074del (p.Glu692AsnfsTer7) n.3422del n.3274del n.3190del | dbSNP |
17 | g.67128791C>A | CA400711361 | HELZ | c.3247G>T (p.Glu1083Ter) c.3250G>T (p.Glu1084Ter) c.3328G>T (p.Glu1110Ter) c.3226G>T (p.Glu1076Ter) c.3331G>T (p.Glu1111Ter) c.2626G>T (p.Glu876Ter) c.2155G>T (p.Glu719Ter) n.3322G>T c.2542G>T (p.Glu848Ter) c.2074G>T (p.Glu692Ter) n.3422G>T n.3274G>T n.3190G>T | |
17 | g.67128791C>G | CA400711362 | HELZ | c.3247G>C (p.Glu1083Gln) c.3250G>C (p.Glu1084Gln) c.3328G>C (p.Glu1110Gln) c.3226G>C (p.Glu1076Gln) c.3331G>C (p.Glu1111Gln) c.2626G>C (p.Glu876Gln) c.2155G>C (p.Glu719Gln) n.3322G>C c.2542G>C (p.Glu848Gln) c.2074G>C (p.Glu692Gln) n.3422G>C n.3274G>C n.3190G>C | |
17 | g.67128791C>T | CA400711360 | HELZ | c.3247G>A (p.Glu1083Lys) c.3250G>A (p.Glu1084Lys) c.3328G>A (p.Glu1110Lys) c.3226G>A (p.Glu1076Lys) c.3331G>A (p.Glu1111Lys) c.2626G>A (p.Glu876Lys) c.2155G>A (p.Glu719Lys) n.3322G>A c.2542G>A (p.Glu848Lys) c.2074G>A (p.Glu692Lys) n.3422G>A n.3274G>A n.3190G>A | |
17 | g.67128792A>C | CA400711363 | HELZ | c.3246T>G (p.Phe1082Leu) c.3249T>G (p.Phe1083Leu) c.3327T>G (p.Phe1109Leu) c.3225T>G (p.Phe1075Leu) c.3330T>G (p.Phe1110Leu) c.2625T>G (p.Phe875Leu) c.2154T>G (p.Phe718Leu) n.3321T>G c.2541T>G (p.Phe847Leu) c.2073T>G (p.Phe691Leu) n.3421T>G n.3273T>G n.3189T>G | |
17 | g.67128792A>G | CA501487686 | HELZ | c.3246T>C (p.Phe1082=) c.3249T>C (p.Phe1083=) c.3327T>C (p.Phe1109=) c.3225T>C (p.Phe1075=) c.3330T>C (p.Phe1110=) c.2625T>C (p.Phe875=) c.2154T>C (p.Phe718=) n.3321T>C c.2541T>C (p.Phe847=) c.2073T>C (p.Phe691=) n.3421T>C n.3273T>C n.3189T>C | |
17 | g.67128792A>T | CA400711364 | HELZ | c.3246T>A (p.Phe1082Leu) c.3249T>A (p.Phe1083Leu) c.3327T>A (p.Phe1109Leu) c.3225T>A (p.Phe1075Leu) c.3330T>A (p.Phe1110Leu) c.2625T>A (p.Phe875Leu) c.2154T>A (p.Phe718Leu) n.3321T>A c.2541T>A (p.Phe847Leu) c.2073T>A (p.Phe691Leu) n.3421T>A n.3273T>A n.3189T>A | |
17 | g.67128793A>C | CA400711365 | HELZ | c.3245T>G (p.Phe1082Cys) c.3248T>G (p.Phe1083Cys) c.3326T>G (p.Phe1109Cys) c.3224T>G (p.Phe1075Cys) c.3329T>G (p.Phe1110Cys) c.2624T>G (p.Phe875Cys) c.2153T>G (p.Phe718Cys) n.3320T>G c.2540T>G (p.Phe847Cys) c.2072T>G (p.Phe691Cys) n.3420T>G n.3272T>G n.3188T>G | |
17 | g.67128793A>G | CA400711366 | HELZ | c.3245T>C (p.Phe1082Ser) c.3248T>C (p.Phe1083Ser) c.3326T>C (p.Phe1109Ser) c.3224T>C (p.Phe1075Ser) c.3329T>C (p.Phe1110Ser) c.2624T>C (p.Phe875Ser) c.2153T>C (p.Phe718Ser) n.3320T>C c.2540T>C (p.Phe847Ser) c.2072T>C (p.Phe691Ser) n.3420T>C n.3272T>C n.3188T>C | |
17 | g.67128793A>T | CA400711367 | HELZ | c.3245T>A (p.Phe1082Tyr) c.3248T>A (p.Phe1083Tyr) c.3326T>A (p.Phe1109Tyr) c.3224T>A (p.Phe1075Tyr) c.3329T>A (p.Phe1110Tyr) c.2624T>A (p.Phe875Tyr) c.2153T>A (p.Phe718Tyr) n.3320T>A c.2540T>A (p.Phe847Tyr) c.2072T>A (p.Phe691Tyr) n.3420T>A n.3272T>A n.3188T>A | |
17 | g.67128794A>C | CA400711368 | HELZ | c.3244T>G (p.Phe1082Val) c.3247T>G (p.Phe1083Val) c.3325T>G (p.Phe1109Val) c.3223T>G (p.Phe1075Val) c.3328T>G (p.Phe1110Val) c.2623T>G (p.Phe875Val) c.2152T>G (p.Phe718Val) n.3319T>G c.2539T>G (p.Phe847Val) c.2071T>G (p.Phe691Val) n.3419T>G n.3271T>G n.3187T>G | |
17 | g.67128794A>G | CA400711369 | HELZ | c.3244T>C (p.Phe1082Leu) c.3247T>C (p.Phe1083Leu) c.3325T>C (p.Phe1109Leu) c.3223T>C (p.Phe1075Leu) c.3328T>C (p.Phe1110Leu) c.2623T>C (p.Phe875Leu) c.2152T>C (p.Phe718Leu) n.3319T>C c.2539T>C (p.Phe847Leu) c.2071T>C (p.Phe691Leu) n.3419T>C n.3271T>C n.3187T>C | |
17 | g.67128794A>T | CA400711370 | HELZ | c.3244T>A (p.Phe1082Ile) c.3247T>A (p.Phe1083Ile) c.3325T>A (p.Phe1109Ile) c.3223T>A (p.Phe1075Ile) c.3328T>A (p.Phe1110Ile) c.2623T>A (p.Phe875Ile) c.2152T>A (p.Phe718Ile) n.3319T>A c.2539T>A (p.Phe847Ile) c.2071T>A (p.Phe691Ile) n.3419T>A n.3271T>A n.3187T>A | |
17 | g.67128795A>C | CA501487687 | HELZ | c.3243T>G (p.Thr1081=) c.3246T>G (p.Thr1082=) c.3324T>G (p.Thr1108=) c.3222T>G (p.Thr1074=) c.3327T>G (p.Thr1109=) c.2622T>G (p.Thr874=) c.2151T>G (p.Thr717=) n.3318T>G c.2538T>G (p.Thr846=) c.2070T>G (p.Thr690=) n.3418T>G n.3270T>G n.3186T>G | |
17 | g.67128795A>G | CA501487688 | HELZ | c.3243T>C (p.Thr1081=) c.3246T>C (p.Thr1082=) c.3324T>C (p.Thr1108=) c.3222T>C (p.Thr1074=) c.3327T>C (p.Thr1109=) c.2622T>C (p.Thr874=) c.2151T>C (p.Thr717=) n.3318T>C c.2538T>C (p.Thr846=) c.2070T>C (p.Thr690=) n.3418T>C n.3270T>C n.3186T>C | gnomAD v4 |
17 | g.67128795A>T | CA501487689 | HELZ | c.3243T>A (p.Thr1081=) c.3246T>A (p.Thr1082=) c.3324T>A (p.Thr1108=) c.3222T>A (p.Thr1074=) c.3327T>A (p.Thr1109=) c.2622T>A (p.Thr874=) c.2151T>A (p.Thr717=) n.3318T>A c.2538T>A (p.Thr846=) c.2070T>A (p.Thr690=) n.3418T>A n.3270T>A n.3186T>A | |
17 | g.67128796G>A | CA400711371 | HELZ | c.3242C>T (p.Thr1081Ile) c.3245C>T (p.Thr1082Ile) c.3323C>T (p.Thr1108Ile) c.3221C>T (p.Thr1074Ile) c.3326C>T (p.Thr1109Ile) c.2621C>T (p.Thr874Ile) c.2150C>T (p.Thr717Ile) n.3317C>T c.2537C>T (p.Thr846Ile) c.2069C>T (p.Thr690Ile) n.3417C>T n.3269C>T n.3185C>T | |
17 | g.67128796G>C | CA400711372 | HELZ | c.3242C>G (p.Thr1081Ser) c.3245C>G (p.Thr1082Ser) c.3323C>G (p.Thr1108Ser) c.3221C>G (p.Thr1074Ser) c.3326C>G (p.Thr1109Ser) c.2621C>G (p.Thr874Ser) c.2150C>G (p.Thr717Ser) n.3317C>G c.2537C>G (p.Thr846Ser) c.2069C>G (p.Thr690Ser) n.3417C>G n.3269C>G n.3185C>G | |
17 | g.67128796G>T | CA400711373 | HELZ | c.3242C>A (p.Thr1081Asn) c.3245C>A (p.Thr1082Asn) c.3323C>A (p.Thr1108Asn) c.3221C>A (p.Thr1074Asn) c.3326C>A (p.Thr1109Asn) c.2621C>A (p.Thr874Asn) c.2150C>A (p.Thr717Asn) n.3317C>A c.2537C>A (p.Thr846Asn) c.2069C>A (p.Thr690Asn) n.3417C>A n.3269C>A n.3185C>A | |
17 | g.67128797T>A | CA400711374 | HELZ | c.3241A>T (p.Thr1081Ser) c.3244A>T (p.Thr1082Ser) c.3322A>T (p.Thr1108Ser) c.3220A>T (p.Thr1074Ser) c.3325A>T (p.Thr1109Ser) c.2620A>T (p.Thr874Ser) c.2149A>T (p.Thr717Ser) n.3316A>T c.2536A>T (p.Thr846Ser) c.2068A>T (p.Thr690Ser) n.3416A>T n.3268A>T n.3184A>T | |
17 | g.67128797T>C | CA400711375 | HELZ | c.3241A>G (p.Thr1081Ala) c.3244A>G (p.Thr1082Ala) c.3322A>G (p.Thr1108Ala) c.3220A>G (p.Thr1074Ala) c.3325A>G (p.Thr1109Ala) c.2620A>G (p.Thr874Ala) c.2149A>G (p.Thr717Ala) n.3316A>G c.2536A>G (p.Thr846Ala) c.2068A>G (p.Thr690Ala) n.3416A>G n.3268A>G n.3184A>G | |
17 | g.67128797T>G | CA400711376 | HELZ | c.3241A>C (p.Thr1081Pro) c.3244A>C (p.Thr1082Pro) c.3322A>C (p.Thr1108Pro) c.3220A>C (p.Thr1074Pro) c.3325A>C (p.Thr1109Pro) c.2620A>C (p.Thr874Pro) c.2149A>C (p.Thr717Pro) n.3316A>C c.2536A>C (p.Thr846Pro) c.2068A>C (p.Thr690Pro) n.3416A>C n.3268A>C n.3184A>C | |
17 | g.67128798G>A | CA501487690 | HELZ | c.3240C>T (p.Ile1080=) c.3243C>T (p.Ile1081=) c.3321C>T (p.Ile1107=) c.3219C>T (p.Ile1073=) c.3324C>T (p.Ile1108=) c.2619C>T (p.Ile873=) c.2148C>T (p.Ile716=) n.3315C>T c.2535C>T (p.Ile845=) c.2067C>T (p.Ile689=) n.3415C>T n.3267C>T n.3183C>T | |
17 | g.67128798G>C | CA400711377 | HELZ | c.3240C>G (p.Ile1080Met) c.3243C>G (p.Ile1081Met) c.3321C>G (p.Ile1107Met) c.3219C>G (p.Ile1073Met) c.3324C>G (p.Ile1108Met) c.2619C>G (p.Ile873Met) c.2148C>G (p.Ile716Met) n.3315C>G c.2535C>G (p.Ile845Met) c.2067C>G (p.Ile689Met) n.3415C>G n.3267C>G n.3183C>G | |
17 | g.67128798G>T | CA501487691 | HELZ | c.3240C>A (p.Ile1080=) c.3243C>A (p.Ile1081=) c.3321C>A (p.Ile1107=) c.3219C>A (p.Ile1073=) c.3324C>A (p.Ile1108=) c.2619C>A (p.Ile873=) c.2148C>A (p.Ile716=) n.3315C>A c.2535C>A (p.Ile845=) c.2067C>A (p.Ile689=) n.3415C>A n.3267C>A n.3183C>A | |
17 | g.67128799A>C | CA400711378 | HELZ | c.3239T>G (p.Ile1080Ser) c.3242T>G (p.Ile1081Ser) c.3320T>G (p.Ile1107Ser) c.3218T>G (p.Ile1073Ser) c.3323T>G (p.Ile1108Ser) c.2618T>G (p.Ile873Ser) c.2147T>G (p.Ile716Ser) n.3314T>G c.2534T>G (p.Ile845Ser) c.2066T>G (p.Ile689Ser) n.3414T>G n.3266T>G n.3182T>G | |
17 | g.67128799A>G | CA400711379 | HELZ | c.3239T>C (p.Ile1080Thr) c.3242T>C (p.Ile1081Thr) c.3320T>C (p.Ile1107Thr) c.3218T>C (p.Ile1073Thr) c.3323T>C (p.Ile1108Thr) c.2618T>C (p.Ile873Thr) c.2147T>C (p.Ile716Thr) n.3314T>C c.2534T>C (p.Ile845Thr) c.2066T>C (p.Ile689Thr) n.3414T>C n.3266T>C n.3182T>C | |
17 | g.67128799A>T | CA400711380 | HELZ | c.3239T>A (p.Ile1080Asn) c.3242T>A (p.Ile1081Asn) c.3320T>A (p.Ile1107Asn) c.3218T>A (p.Ile1073Asn) c.3323T>A (p.Ile1108Asn) c.2618T>A (p.Ile873Asn) c.2147T>A (p.Ile716Asn) n.3314T>A c.2534T>A (p.Ile845Asn) c.2066T>A (p.Ile689Asn) n.3414T>A n.3266T>A n.3182T>A | |
17 | g.67128800T>A | CA400711381 | HELZ | c.3238A>T (p.Ile1080Phe) c.3241A>T (p.Ile1081Phe) c.3319A>T (p.Ile1107Phe) c.3217A>T (p.Ile1073Phe) c.3322A>T (p.Ile1108Phe) c.2617A>T (p.Ile873Phe) c.2146A>T (p.Ile716Phe) n.3313A>T c.2533A>T (p.Ile845Phe) c.2065A>T (p.Ile689Phe) n.3413A>T n.3265A>T n.3181A>T | |
17 | g.67128800T>C | CA400711382 | HELZ | c.3238A>G (p.Ile1080Val) c.3241A>G (p.Ile1081Val) c.3319A>G (p.Ile1107Val) c.3217A>G (p.Ile1073Val) c.3322A>G (p.Ile1108Val) c.2617A>G (p.Ile873Val) c.2146A>G (p.Ile716Val) n.3313A>G c.2533A>G (p.Ile845Val) c.2065A>G (p.Ile689Val) n.3413A>G n.3265A>G n.3181A>G | dbSNP |
17 | g.67128800T>G | CA400711383 | HELZ | c.3238A>C (p.Ile1080Leu) c.3241A>C (p.Ile1081Leu) c.3319A>C (p.Ile1107Leu) c.3217A>C (p.Ile1073Leu) c.3322A>C (p.Ile1108Leu) c.2617A>C (p.Ile873Leu) c.2146A>C (p.Ile716Leu) n.3313A>C c.2533A>C (p.Ile845Leu) c.2065A>C (p.Ile689Leu) n.3413A>C n.3265A>C n.3181A>C | dbSNP |
17 | g.67128800T= | CA2271598017 | HELZ | c.3238A= (p.Ile1080=) c.3241A= (p.Ile1081=) c.3319A= (p.Ile1107=) c.3217A= (p.Ile1073=) c.3322A= (p.Ile1108=) c.2617A= (p.Ile873=) c.2146A= (p.Ile716=) n.3313A= c.2533A= (p.Ile845=) c.2065A= (p.Ile689=) n.3413A= n.3265A= n.3181A= | |
17 | g.67128801T>A | CA501487692 | HELZ | c.3237A>T (p.Gly1079=) c.3240A>T (p.Gly1080=) c.3318A>T (p.Gly1106=) c.3216A>T (p.Gly1072=) c.3321A>T (p.Gly1107=) c.2616A>T (p.Gly872=) c.2145A>T (p.Gly715=) n.3312A>T c.2532A>T (p.Gly844=) c.2064A>T (p.Gly688=) n.3412A>T n.3264A>T n.3180A>T | |
17 | g.67128801T>C | CA501487693 | HELZ | c.3237A>G (p.Gly1079=) c.3240A>G (p.Gly1080=) c.3318A>G (p.Gly1106=) c.3216A>G (p.Gly1072=) c.3321A>G (p.Gly1107=) c.2616A>G (p.Gly872=) c.2145A>G (p.Gly715=) n.3312A>G c.2532A>G (p.Gly844=) c.2064A>G (p.Gly688=) n.3412A>G n.3264A>G n.3180A>G | gnomAD v4 |
17 | g.67128801T>G | CA501487694 | HELZ | c.3237A>C (p.Gly1079=) c.3240A>C (p.Gly1080=) c.3318A>C (p.Gly1106=) c.3216A>C (p.Gly1072=) c.3321A>C (p.Gly1107=) c.2616A>C (p.Gly872=) c.2145A>C (p.Gly715=) n.3312A>C c.2532A>C (p.Gly844=) c.2064A>C (p.Gly688=) n.3412A>C n.3264A>C n.3180A>C | |
17 | g.67128802C>A | CA400711384 | HELZ | c.3236G>T (p.Gly1079Val) c.3239G>T (p.Gly1080Val) c.3317G>T (p.Gly1106Val) c.3215G>T (p.Gly1072Val) c.3320G>T (p.Gly1107Val) c.2615G>T (p.Gly872Val) c.2144G>T (p.Gly715Val) n.3311G>T c.2531G>T (p.Gly844Val) c.2063G>T (p.Gly688Val) n.3411G>T n.3263G>T n.3179G>T | |
17 | g.67128802C>G | CA400711385 | HELZ | c.3236G>C (p.Gly1079Ala) c.3239G>C (p.Gly1080Ala) c.3317G>C (p.Gly1106Ala) c.3215G>C (p.Gly1072Ala) c.3320G>C (p.Gly1107Ala) c.2615G>C (p.Gly872Ala) c.2144G>C (p.Gly715Ala) n.3311G>C c.2531G>C (p.Gly844Ala) c.2063G>C (p.Gly688Ala) n.3411G>C n.3263G>C n.3179G>C | |
17 | g.67128802C>T | CA400711386 | HELZ | c.3236G>A (p.Gly1079Glu) c.3239G>A (p.Gly1080Glu) c.3317G>A (p.Gly1106Glu) c.3215G>A (p.Gly1072Glu) c.3320G>A (p.Gly1107Glu) c.2615G>A (p.Gly872Glu) c.2144G>A (p.Gly715Glu) n.3311G>A c.2531G>A (p.Gly844Glu) c.2063G>A (p.Gly688Glu) n.3411G>A n.3263G>A n.3179G>A | |
17 | g.67128803C>A | CA400711387 | HELZ | c.3235G>T (p.Gly1079Ter) c.3238G>T (p.Gly1080Ter) c.3316G>T (p.Gly1106Ter) c.3214G>T (p.Gly1072Ter) c.3319G>T (p.Gly1107Ter) c.2614G>T (p.Gly872Ter) c.2143G>T (p.Gly715Ter) n.3310G>T c.2530G>T (p.Gly844Ter) c.2062G>T (p.Gly688Ter) n.3410G>T n.3262G>T n.3178G>T | |
17 | g.67128803C>G | CA400711388 | HELZ | c.3235G>C (p.Gly1079Arg) c.3238G>C (p.Gly1080Arg) c.3316G>C (p.Gly1106Arg) c.3214G>C (p.Gly1072Arg) c.3319G>C (p.Gly1107Arg) c.2614G>C (p.Gly872Arg) c.2143G>C (p.Gly715Arg) n.3310G>C c.2530G>C (p.Gly844Arg) c.2062G>C (p.Gly688Arg) n.3410G>C n.3262G>C n.3178G>C | |
17 | g.67128803C>T | CA400711389 | HELZ | c.3235G>A (p.Gly1079Arg) c.3238G>A (p.Gly1080Arg) c.3316G>A (p.Gly1106Arg) c.3214G>A (p.Gly1072Arg) c.3319G>A (p.Gly1107Arg) c.2614G>A (p.Gly872Arg) c.2143G>A (p.Gly715Arg) n.3310G>A c.2530G>A (p.Gly844Arg) c.2062G>A (p.Gly688Arg) n.3410G>A n.3262G>A n.3178G>A | gnomAD v4 |
17 | g.67128804A= | CA2271598018 | HELZ | c.3234T= (p.His1078=) c.3237T= (p.His1079=) c.3315T= (p.His1105=) c.3213T= (p.His1071=) c.3318T= (p.His1106=) c.2613T= (p.His871=) c.2142T= (p.His714=) n.3309T= c.2529T= (p.His843=) c.2061T= (p.His687=) n.3409T= n.3261T= n.3177T= | |
17 | g.67128804A>C | CA400711390 | HELZ | c.3234T>G (p.His1078Gln) c.3237T>G (p.His1079Gln) c.3315T>G (p.His1105Gln) c.3213T>G (p.His1071Gln) c.3318T>G (p.His1106Gln) c.2613T>G (p.His871Gln) c.2142T>G (p.His714Gln) n.3309T>G c.2529T>G (p.His843Gln) c.2061T>G (p.His687Gln) n.3409T>G n.3261T>G n.3177T>G | |
17 | g.67128804A>G | CA293205859 | HELZ | c.3234T>C (p.His1078=) c.3237T>C (p.His1079=) c.3315T>C (p.His1105=) c.3213T>C (p.His1071=) c.3318T>C (p.His1106=) c.2613T>C (p.His871=) c.2142T>C (p.His714=) n.3309T>C c.2529T>C (p.His843=) c.2061T>C (p.His687=) n.3409T>C n.3261T>C n.3177T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.67128804A>T | CA400711391 | HELZ | c.3234T>A (p.His1078Gln) c.3237T>A (p.His1079Gln) c.3315T>A (p.His1105Gln) c.3213T>A (p.His1071Gln) c.3318T>A (p.His1106Gln) c.2613T>A (p.His871Gln) c.2142T>A (p.His714Gln) n.3309T>A c.2529T>A (p.His843Gln) c.2061T>A (p.His687Gln) n.3409T>A n.3261T>A n.3177T>A | |
17 | g.67128805T>A | CA400711393 | HELZ | c.3233A>T (p.His1078Leu) c.3236A>T (p.His1079Leu) c.3314A>T (p.His1105Leu) c.3212A>T (p.His1071Leu) c.3317A>T (p.His1106Leu) c.2612A>T (p.His871Leu) c.2141A>T (p.His714Leu) n.3308A>T c.2528A>T (p.His843Leu) c.2060A>T (p.His687Leu) n.3408A>T n.3260A>T n.3176A>T | |
17 | g.67128805T>C | CA293205860 | HELZ | c.3233A>G (p.His1078Arg) c.3236A>G (p.His1079Arg) c.3314A>G (p.His1105Arg) c.3212A>G (p.His1071Arg) c.3317A>G (p.His1106Arg) c.2612A>G (p.His871Arg) c.2141A>G (p.His714Arg) n.3308A>G c.2528A>G (p.His843Arg) c.2060A>G (p.His687Arg) n.3408A>G n.3260A>G n.3176A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.67128805T>G | CA400711392 | HELZ | c.3233A>C (p.His1078Pro) c.3236A>C (p.His1079Pro) c.3314A>C (p.His1105Pro) c.3212A>C (p.His1071Pro) c.3317A>C (p.His1106Pro) c.2612A>C (p.His871Pro) c.2141A>C (p.His714Pro) n.3308A>C c.2528A>C (p.His843Pro) c.2060A>C (p.His687Pro) n.3408A>C n.3260A>C n.3176A>C | |
17 | g.67128805T= | CA2271598019 | HELZ | c.3233A= (p.His1078=) c.3236A= (p.His1079=) c.3314A= (p.His1105=) c.3212A= (p.His1071=) c.3317A= (p.His1106=) c.2612A= (p.His871=) c.2141A= (p.His714=) n.3308A= c.2528A= (p.His843=) c.2060A= (p.His687=) n.3408A= n.3260A= n.3176A= | |
17 | g.67128806G>A | CA400711396 | HELZ | c.3232C>T (p.His1078Tyr) c.3235C>T (p.His1079Tyr) c.3313C>T (p.His1105Tyr) c.3211C>T (p.His1071Tyr) c.3316C>T (p.His1106Tyr) c.2611C>T (p.His871Tyr) c.2140C>T (p.His714Tyr) n.3307C>T c.2527C>T (p.His843Tyr) c.2059C>T (p.His687Tyr) n.3407C>T n.3259C>T n.3175C>T | |
17 | g.67128806G>C | CA400711394 | HELZ | c.3232C>G (p.His1078Asp) c.3235C>G (p.His1079Asp) c.3313C>G (p.His1105Asp) c.3211C>G (p.His1071Asp) c.3316C>G (p.His1106Asp) c.2611C>G (p.His871Asp) c.2140C>G (p.His714Asp) n.3307C>G c.2527C>G (p.His843Asp) c.2059C>G (p.His687Asp) n.3407C>G n.3259C>G n.3175C>G | |
17 | g.67128806G>T | CA400711395 | HELZ | c.3232C>A (p.His1078Asn) c.3235C>A (p.His1079Asn) c.3313C>A (p.His1105Asn) c.3211C>A (p.His1071Asn) c.3316C>A (p.His1106Asn) c.2611C>A (p.His871Asn) c.2140C>A (p.His714Asn) n.3307C>A c.2527C>A (p.His843Asn) c.2059C>A (p.His687Asn) n.3407C>A n.3259C>A n.3175C>A | |
17 | g.67128807T>A | CA501487695 | HELZ | c.3231A>T (p.Leu1077=) c.3234A>T (p.Leu1078=) c.3312A>T (p.Leu1104=) c.3210A>T (p.Leu1070=) c.3315A>T (p.Leu1105=) c.2610A>T (p.Leu870=) c.2139A>T (p.Leu713=) n.3306A>T c.2526A>T (p.Leu842=) c.2058A>T (p.Leu686=) n.3406A>T n.3258A>T n.3174A>T | |
17 | g.67128807T>C | CA501487696 | HELZ | c.3231A>G (p.Leu1077=) c.3234A>G (p.Leu1078=) c.3312A>G (p.Leu1104=) c.3210A>G (p.Leu1070=) c.3315A>G (p.Leu1105=) c.2610A>G (p.Leu870=) c.2139A>G (p.Leu713=) n.3306A>G c.2526A>G (p.Leu842=) c.2058A>G (p.Leu686=) n.3406A>G n.3258A>G n.3174A>G | dbSNP gnomAD v4 |
17 | g.67128807T>G | CA501487697 | HELZ | c.3231A>C (p.Leu1077=) c.3234A>C (p.Leu1078=) c.3312A>C (p.Leu1104=) c.3210A>C (p.Leu1070=) c.3315A>C (p.Leu1105=) c.2610A>C (p.Leu870=) c.2139A>C (p.Leu713=) n.3306A>C c.2526A>C (p.Leu842=) c.2058A>C (p.Leu686=) n.3406A>C n.3258A>C n.3174A>C | |
17 | g.67128807T= | CA2271598020 | HELZ | c.3231A= (p.Leu1077=) c.3234A= (p.Leu1078=) c.3312A= (p.Leu1104=) c.3210A= (p.Leu1070=) c.3315A= (p.Leu1105=) c.2610A= (p.Leu870=) c.2139A= (p.Leu713=) n.3306A= c.2526A= (p.Leu842=) c.2058A= (p.Leu686=) n.3406A= n.3258A= n.3174A= | |
17 | g.67128808A>C | CA400711397 | HELZ | c.3230T>G (p.Leu1077Arg) c.3233T>G (p.Leu1078Arg) c.3311T>G (p.Leu1104Arg) c.3209T>G (p.Leu1070Arg) c.3314T>G (p.Leu1105Arg) c.2609T>G (p.Leu870Arg) c.2138T>G (p.Leu713Arg) n.3305T>G c.2525T>G (p.Leu842Arg) c.2057T>G (p.Leu686Arg) n.3405T>G n.3257T>G n.3173T>G | |
17 | g.67128808A>G | CA400711398 | HELZ | c.3230T>C (p.Leu1077Pro) c.3233T>C (p.Leu1078Pro) c.3311T>C (p.Leu1104Pro) c.3209T>C (p.Leu1070Pro) c.3314T>C (p.Leu1105Pro) c.2609T>C (p.Leu870Pro) c.2138T>C (p.Leu713Pro) n.3305T>C c.2525T>C (p.Leu842Pro) c.2057T>C (p.Leu686Pro) n.3405T>C n.3257T>C n.3173T>C | |
17 | g.67128808A>T | CA400711399 | HELZ | c.3230T>A (p.Leu1077Gln) c.3233T>A (p.Leu1078Gln) c.3311T>A (p.Leu1104Gln) c.3209T>A (p.Leu1070Gln) c.3314T>A (p.Leu1105Gln) c.2609T>A (p.Leu870Gln) c.2138T>A (p.Leu713Gln) n.3305T>A c.2525T>A (p.Leu842Gln) c.2057T>A (p.Leu686Gln) n.3405T>A n.3257T>A n.3173T>A | |
17 | g.67128809G>A | CA8722784 | HELZ | c.3229C>T (p.Leu1077=) c.3232C>T (p.Leu1078=) c.3310C>T (p.Leu1104=) c.3208C>T (p.Leu1070=) c.3313C>T (p.Leu1105=) c.2608C>T (p.Leu870=) c.2137C>T (p.Leu713=) n.3304C>T c.2524C>T (p.Leu842=) c.2056C>T (p.Leu686=) n.3404C>T n.3256C>T n.3172C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.67128809G>C | CA400711400 | HELZ | c.3229C>G (p.Leu1077Val) c.3232C>G (p.Leu1078Val) c.3310C>G (p.Leu1104Val) c.3208C>G (p.Leu1070Val) c.3313C>G (p.Leu1105Val) c.2608C>G (p.Leu870Val) c.2137C>G (p.Leu713Val) n.3304C>G c.2524C>G (p.Leu842Val) c.2056C>G (p.Leu686Val) n.3404C>G n.3256C>G n.3172C>G | |
17 | g.67128809G= | CA2271598021 | HELZ | c.3229C= (p.Leu1077=) c.3232C= (p.Leu1078=) c.3310C= (p.Leu1104=) c.3208C= (p.Leu1070=) c.3313C= (p.Leu1105=) c.2608C= (p.Leu870=) c.2137C= (p.Leu713=) n.3304C= c.2524C= (p.Leu842=) c.2056C= (p.Leu686=) n.3404C= n.3256C= n.3172C= | |
17 | g.67128809G>T | CA400711401 | HELZ | c.3229C>A (p.Leu1077Ile) c.3232C>A (p.Leu1078Ile) c.3310C>A (p.Leu1104Ile) c.3208C>A (p.Leu1070Ile) c.3313C>A (p.Leu1105Ile) c.2608C>A (p.Leu870Ile) c.2137C>A (p.Leu713Ile) n.3304C>A c.2524C>A (p.Leu842Ile) c.2056C>A (p.Leu686Ile) n.3404C>A n.3256C>A n.3172C>A | |
17 | g.67128810G>A | CA501487698 | HELZ | c.3228C>T (p.Ser1076=) c.3231C>T (p.Ser1077=) c.3309C>T (p.Ser1103=) c.3207C>T (p.Ser1069=) c.3312C>T (p.Ser1104=) c.2607C>T (p.Ser869=) c.2136C>T (p.Ser712=) n.3303C>T c.2523C>T (p.Ser841=) c.2055C>T (p.Ser685=) n.3403C>T n.3255C>T n.3171C>T | COSMIC |
17 | g.67128810G>C | CA400711402 | HELZ | c.3228C>G (p.Ser1076Arg) c.3231C>G (p.Ser1077Arg) c.3309C>G (p.Ser1103Arg) c.3207C>G (p.Ser1069Arg) c.3312C>G (p.Ser1104Arg) c.2607C>G (p.Ser869Arg) c.2136C>G (p.Ser712Arg) n.3303C>G c.2523C>G (p.Ser841Arg) c.2055C>G (p.Ser685Arg) n.3403C>G n.3255C>G n.3171C>G | |
17 | g.67128810G>T | CA400711403 | HELZ | c.3228C>A (p.Ser1076Arg) c.3231C>A (p.Ser1077Arg) c.3309C>A (p.Ser1103Arg) c.3207C>A (p.Ser1069Arg) c.3312C>A (p.Ser1104Arg) c.2607C>A (p.Ser869Arg) c.2136C>A (p.Ser712Arg) n.3303C>A c.2523C>A (p.Ser841Arg) c.2055C>A (p.Ser685Arg) n.3403C>A n.3255C>A n.3171C>A | |
17 | g.67128811C>A | CA400711404 | HELZ | c.3227G>T (p.Ser1076Ile) c.3230G>T (p.Ser1077Ile) c.3308G>T (p.Ser1103Ile) c.3206G>T (p.Ser1069Ile) c.3311G>T (p.Ser1104Ile) c.2606G>T (p.Ser869Ile) c.2135G>T (p.Ser712Ile) n.3302G>T c.2522G>T (p.Ser841Ile) c.2054G>T (p.Ser685Ile) n.3402G>T n.3254G>T n.3170G>T | |
17 | g.67128811C>G | CA400711405 | HELZ | c.3227G>C (p.Ser1076Thr) c.3230G>C (p.Ser1077Thr) c.3308G>C (p.Ser1103Thr) c.3206G>C (p.Ser1069Thr) c.3311G>C (p.Ser1104Thr) c.2606G>C (p.Ser869Thr) c.2135G>C (p.Ser712Thr) n.3302G>C c.2522G>C (p.Ser841Thr) c.2054G>C (p.Ser685Thr) n.3402G>C n.3254G>C n.3170G>C | |
17 | g.67128811C>T | CA400711406 | HELZ | c.3227G>A (p.Ser1076Asn) c.3230G>A (p.Ser1077Asn) c.3308G>A (p.Ser1103Asn) c.3206G>A (p.Ser1069Asn) c.3311G>A (p.Ser1104Asn) c.2606G>A (p.Ser869Asn) c.2135G>A (p.Ser712Asn) n.3302G>A c.2522G>A (p.Ser841Asn) c.2054G>A (p.Ser685Asn) n.3402G>A n.3254G>A n.3170G>A | gnomAD v4 |
17 | g.67128812T>A | CA400711408 | HELZ | c.3226A>T (p.Ser1076Cys) c.3229A>T (p.Ser1077Cys) c.3307A>T (p.Ser1103Cys) c.3205A>T (p.Ser1069Cys) c.3310A>T (p.Ser1104Cys) c.2605A>T (p.Ser869Cys) c.2134A>T (p.Ser712Cys) n.3301A>T c.2521A>T (p.Ser841Cys) c.2053A>T (p.Ser685Cys) n.3401A>T n.3253A>T n.3169A>T | |
17 | g.67128812T>C | CA400711409 | HELZ | c.3226A>G (p.Ser1076Gly) c.3229A>G (p.Ser1077Gly) c.3307A>G (p.Ser1103Gly) c.3205A>G (p.Ser1069Gly) c.3310A>G (p.Ser1104Gly) c.2605A>G (p.Ser869Gly) c.2134A>G (p.Ser712Gly) n.3301A>G c.2521A>G (p.Ser841Gly) c.2053A>G (p.Ser685Gly) n.3401A>G n.3253A>G n.3169A>G | |
17 | g.67128812T>G | CA400711407 | HELZ | c.3226A>C (p.Ser1076Arg) c.3229A>C (p.Ser1077Arg) c.3307A>C (p.Ser1103Arg) c.3205A>C (p.Ser1069Arg) c.3310A>C (p.Ser1104Arg) c.2605A>C (p.Ser869Arg) c.2134A>C (p.Ser712Arg) n.3301A>C c.2521A>C (p.Ser841Arg) c.2053A>C (p.Ser685Arg) n.3401A>C n.3253A>C n.3169A>C | |
17 | g.67128813A>C | CA400711410 | HELZ | c.3225T>G (p.Ser1075Arg) c.3228T>G (p.Ser1076Arg) c.3306T>G (p.Ser1102Arg) c.3204T>G (p.Ser1068Arg) c.3309T>G (p.Ser1103Arg) c.2604T>G (p.Ser868Arg) c.2133T>G (p.Ser711Arg) n.3300T>G c.2520T>G (p.Ser840Arg) c.2052T>G (p.Ser684Arg) n.3400T>G n.3252T>G n.3168T>G | |
17 | g.67128813A>G | CA501487699 | HELZ | c.3225T>C (p.Ser1075=) c.3228T>C (p.Ser1076=) c.3306T>C (p.Ser1102=) c.3204T>C (p.Ser1068=) c.3309T>C (p.Ser1103=) c.2604T>C (p.Ser868=) c.2133T>C (p.Ser711=) n.3300T>C c.2520T>C (p.Ser840=) c.2052T>C (p.Ser684=) n.3400T>C n.3252T>C n.3168T>C | gnomAD v4 |
17 | g.67128813A>T | CA400711411 | HELZ | c.3225T>A (p.Ser1075Arg) c.3228T>A (p.Ser1076Arg) c.3306T>A (p.Ser1102Arg) c.3204T>A (p.Ser1068Arg) c.3309T>A (p.Ser1103Arg) c.2604T>A (p.Ser868Arg) c.2133T>A (p.Ser711Arg) n.3300T>A c.2520T>A (p.Ser840Arg) c.2052T>A (p.Ser684Arg) n.3400T>A n.3252T>A n.3168T>A | |
17 | g.67128814C>A | CA400711412 | HELZ | c.3224G>T (p.Ser1075Ile) c.3227G>T (p.Ser1076Ile) c.3305G>T (p.Ser1102Ile) c.3203G>T (p.Ser1068Ile) c.3308G>T (p.Ser1103Ile) c.2603G>T (p.Ser868Ile) c.2132G>T (p.Ser711Ile) n.3299G>T c.2519G>T (p.Ser840Ile) c.2051G>T (p.Ser684Ile) n.3399G>T n.3251G>T n.3167G>T | COSMIC |
17 | g.67128814C= | CA2271598022 | HELZ | c.3224G= (p.Ser1075=) c.3227G= (p.Ser1076=) c.3305G= (p.Ser1102=) c.3203G= (p.Ser1068=) c.3308G= (p.Ser1103=) c.2603G= (p.Ser868=) c.2132G= (p.Ser711=) n.3299G= c.2519G= (p.Ser840=) c.2051G= (p.Ser684=) n.3399G= n.3251G= n.3167G= | |
17 | g.67128814C>G | CA400711413 | HELZ | c.3224G>C (p.Ser1075Thr) c.3227G>C (p.Ser1076Thr) c.3305G>C (p.Ser1102Thr) c.3203G>C (p.Ser1068Thr) c.3308G>C (p.Ser1103Thr) c.2603G>C (p.Ser868Thr) c.2132G>C (p.Ser711Thr) n.3299G>C c.2519G>C (p.Ser840Thr) c.2051G>C (p.Ser684Thr) n.3399G>C n.3251G>C n.3167G>C | |
17 | g.67128814C>T | CA8722785 | HELZ | c.3224G>A (p.Ser1075Asn) c.3227G>A (p.Ser1076Asn) c.3305G>A (p.Ser1102Asn) c.3203G>A (p.Ser1068Asn) c.3308G>A (p.Ser1103Asn) c.2603G>A (p.Ser868Asn) c.2132G>A (p.Ser711Asn) n.3299G>A c.2519G>A (p.Ser840Asn) c.2051G>A (p.Ser684Asn) n.3399G>A n.3251G>A n.3167G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.67128815T>A | CA400711415 | HELZ | c.3223A>T (p.Ser1075Cys) c.3226A>T (p.Ser1076Cys) c.3304A>T (p.Ser1102Cys) c.3202A>T (p.Ser1068Cys) c.3307A>T (p.Ser1103Cys) c.2602A>T (p.Ser868Cys) c.2131A>T (p.Ser711Cys) n.3298A>T c.2518A>T (p.Ser840Cys) c.2050A>T (p.Ser684Cys) n.3398A>T n.3250A>T n.3166A>T | |
17 | g.67128815T>C | CA8722786 | HELZ | c.3223A>G (p.Ser1075Gly) c.3226A>G (p.Ser1076Gly) c.3304A>G (p.Ser1102Gly) c.3202A>G (p.Ser1068Gly) c.3307A>G (p.Ser1103Gly) c.2602A>G (p.Ser868Gly) c.2131A>G (p.Ser711Gly) n.3298A>G c.2518A>G (p.Ser840Gly) c.2050A>G (p.Ser684Gly) n.3398A>G n.3250A>G n.3166A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.67128815T>G | CA400711414 | HELZ | c.3223A>C (p.Ser1075Arg) c.3226A>C (p.Ser1076Arg) c.3304A>C (p.Ser1102Arg) c.3202A>C (p.Ser1068Arg) c.3307A>C (p.Ser1103Arg) c.2602A>C (p.Ser868Arg) c.2131A>C (p.Ser711Arg) n.3298A>C c.2518A>C (p.Ser840Arg) c.2050A>C (p.Ser684Arg) n.3398A>C n.3250A>C n.3166A>C | |
17 | g.67128815T= | CA2271598023 | HELZ | c.3223A= (p.Ser1075=) c.3226A= (p.Ser1076=) c.3304A= (p.Ser1102=) c.3202A= (p.Ser1068=) c.3307A= (p.Ser1103=) c.2602A= (p.Ser868=) c.2131A= (p.Ser711=) n.3298A= c.2518A= (p.Ser840=) c.2050A= (p.Ser684=) n.3398A= n.3250A= n.3166A= | |
17 | g.67128816G>A | CA501487700 | HELZ | c.3222C>T (p.Asn1074=) c.3225C>T (p.Asn1075=) c.3303C>T (p.Asn1101=) c.3201C>T (p.Asn1067=) c.3306C>T (p.Asn1102=) c.2601C>T (p.Asn867=) c.2130C>T (p.Asn710=) n.3297C>T c.2517C>T (p.Asn839=) c.2049C>T (p.Asn683=) n.3397C>T n.3249C>T n.3165C>T | dbSNP gnomAD v4 |
17 | g.67128816G>C | CA400711416 | HELZ | c.3222C>G (p.Asn1074Lys) c.3225C>G (p.Asn1075Lys) c.3303C>G (p.Asn1101Lys) c.3201C>G (p.Asn1067Lys) c.3306C>G (p.Asn1102Lys) c.2601C>G (p.Asn867Lys) c.2130C>G (p.Asn710Lys) n.3297C>G c.2517C>G (p.Asn839Lys) c.2049C>G (p.Asn683Lys) n.3397C>G n.3249C>G n.3165C>G | |
17 | g.67128816G>T | CA400711417 | HELZ | c.3222C>A (p.Asn1074Lys) c.3225C>A (p.Asn1075Lys) c.3303C>A (p.Asn1101Lys) c.3201C>A (p.Asn1067Lys) c.3306C>A (p.Asn1102Lys) c.2601C>A (p.Asn867Lys) c.2130C>A (p.Asn710Lys) n.3297C>A c.2517C>A (p.Asn839Lys) c.2049C>A (p.Asn683Lys) n.3397C>A n.3249C>A n.3165C>A |