| 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 |