Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.67128722C>ACA400711071HELZc.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
17g.67128722C>GCA400711073HELZc.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
17g.67128722C>TCA400711076HELZc.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
17g.67128723A>CCA501487615HELZc.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
17g.67128723A>GCA501487617HELZc.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
17g.67128723A>TCA501487616HELZc.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
17g.67128724G>ACA400711080HELZc.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
17g.67128724G>CCA400711082HELZc.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
17g.67128724G>TCA400711078HELZc.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
17g.67128725G>ACA8722779HELZc.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
17g.67128725G>CCA400711085HELZc.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
17g.67128725G=CA2271597998HELZc.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=
17g.67128725G>TCA400711088HELZc.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
17g.67128726T>ACA501487618HELZc.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
17g.67128726T>CCA501487619HELZc.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
17g.67128726T>GCA501487620HELZc.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
17g.67128727G>ACA400711089HELZc.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
17g.67128727G>CCA400711093HELZc.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
17g.67128727G=CA2271597999HELZc.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=
17g.67128727G>TCA400711091HELZc.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
17g.67128728C>ACA400711096HELZc.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
17g.67128728C>GCA400711098HELZc.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
17g.67128728C>TCA400711100HELZc.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
17g.67128729C>ACA501487622HELZc.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
17g.67128729C>GCA501487623HELZc.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
17g.67128729C>TCA501487624HELZc.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
17g.67128730A>CCA400711103HELZc.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
17g.67128730A>GCA400711105HELZc.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
17g.67128730A>TCA400711107HELZc.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
17g.67128731G>ACA501487626HELZc.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
17g.67128731G>CCA400711109HELZc.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
17g.67128731G>TCA400711112HELZc.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
17g.67128732C>ACA501487629HELZc.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
17g.67128732C=CA2271598000HELZc.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=
17g.67128732C>GCA501487630HELZc.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
17g.67128732C>TCA501487631HELZc.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
17g.67128733G>ACA400711115HELZc.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
17g.67128733G>CCA400711117HELZc.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
17g.67128733G>TCA400711119HELZc.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
17g.67128734G>ACA400711127HELZc.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
17g.67128734G>CCA400711123HELZc.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
17g.67128734G>TCA400711125HELZc.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
17g.67128735A>CCA400711129HELZc.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
17g.67128735A>GCA501487634HELZc.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
17g.67128735A>TCA400711130HELZc.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
17g.67128736T>ACA400711133HELZc.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
17g.67128736T>CCA8722780HELZc.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
17g.67128736T>GCA400711136HELZc.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
17g.67128736T=CA2271598001HELZc.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=
17g.67128737T>ACA400711137HELZc.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
17g.67128737T>CCA400711139HELZc.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
17g.67128737T>GCA400711141HELZc.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
17g.67128738C>ACA400711144HELZc.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
17g.67128738C>GCA400711146HELZc.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
17g.67128738C>TCA501487638HELZc.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
17g.67128738_67128739delCA2569970084HELZc.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
17g.67128739A>CCA400711151HELZc.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
17g.67128739A>GCA400711153HELZc.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
17g.67128739A>TCA400711149HELZc.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
17g.67128740A>CCA400711156HELZc.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
17g.67128740A>GCA501487639HELZc.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
17g.67128740A>TCA400711158HELZc.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
17g.67128741C>ACA501487643HELZc.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
17g.67128741C=CA2271598002HELZc.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=
17g.67128741C>GCA501487642HELZc.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
17g.67128741C>TCA501487641HELZc.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
17g.67128742A>CCA400711161HELZc.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
17g.67128742A>GCA400711163HELZc.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
17g.67128742A>TCA400711165HELZc.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
17g.67128742_67128767delinsACATATGTCTTCTTTAGTTCTAAAGCCA2271598003HELZc.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
17g.67128743C>ACA400711173HELZc.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
17g.67128743C>GCA400711171HELZc.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
17g.67128743C>TCA400711169HELZc.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
17g.67128744_67128768delCA2271598004HELZc.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
17g.67128744A=CA2271598005HELZc.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=
17g.67128744A>CCA400711176HELZc.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
17g.67128744A>GCA8722781HELZc.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
17g.67128744A>TCA400711180HELZc.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
17g.67128745T>ACA400711184HELZc.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
17g.67128745T>CCA400711186HELZc.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
17g.67128745T>GCA400711188HELZc.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
17g.67128746A>CCA400711192HELZc.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
17g.67128746A>GCA400711196HELZc.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
17g.67128746A>TCA400711194HELZc.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
17g.67128747T>ACA501487645HELZc.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
17g.67128747T>CCA501487648HELZc.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
17g.67128747T>GCA501487647HELZc.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
17g.67128748G>ACA400711199HELZc.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
17g.67128748G>CCA400711201HELZc.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
17g.67128748G>TCA400711203HELZc.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
17g.67128749T>ACA400711205HELZc.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
17g.67128749T>CCA8722782HELZc.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
17g.67128749T>GCA400711209HELZc.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
17g.67128749T=CA2271598006HELZc.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=
17g.67128750C>ACA400711212HELZc.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
17g.67128750C>GCA400711213HELZc.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
17g.67128750C>TCA501487650HELZc.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
17g.67128751T>ACA400711216HELZc.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
17g.67128751T>CCA400711218HELZc.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
17g.67128751T>GCA400711221HELZc.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
17g.67128752T>ACA400711229HELZc.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
17g.67128752T>CCA400711227HELZc.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
17g.67128752T>GCA400711225HELZc.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
17g.67128753C>ACA400711232HELZc.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
17g.67128753C>GCA400711234HELZc.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
17g.67128753C>TCA501487653HELZc.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
17g.67128754T>ACA400711237HELZc.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
17g.67128754T>CCA8722783HELZc.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
17g.67128754T>GCA400711240HELZc.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
17g.67128754T=CA2271598007HELZc.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=
17g.67128755T>ACA400711243HELZc.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
17g.67128755T>CCA400711245HELZc.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
17g.67128755T>GCA400711248HELZc.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
17g.67128756T>ACA501487658HELZc.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
17g.67128756T>CCA293205855HELZc.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
17g.67128756T>GCA501487657HELZc.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
17g.67128756T=CA2271598008HELZc.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=
17g.67128757A>CCA400711250HELZc.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
17g.67128757A>GCA400711252HELZc.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
17g.67128757A>TCA400711255HELZc.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
17g.67128758G>ACA501487659HELZc.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
17g.67128758G>CCA400711258HELZc.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
17g.67128758G>TCA400711260HELZc.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
17g.67128759T>ACA400711262HELZc.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
17g.67128759T>CCA293205858HELZc.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
17g.67128759T>GCA400711265HELZc.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
17g.67128759T=CA2271598009HELZc.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=
17g.67128760T>ACA400711268HELZc.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
17g.67128760T>CCA400711272HELZc.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
17g.67128760T>GCA400711270HELZc.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
17g.67128761C>ACA400711274HELZc.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
17g.67128761C>GCA400711276HELZc.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
17g.67128761C>TCA400711278HELZc.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
17g.67128762T>ACA400711281HELZc.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
17g.67128762T>CCA501487663HELZc.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
17g.67128762T>GCA400711283HELZc.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
17g.67128763A>CCA400711285HELZc.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
17g.67128763A>GCA400711287HELZc.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
17g.67128763A>TCA400711289HELZc.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
17g.67128764A>CCA400711292HELZc.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
17g.67128764A>GCA501487664HELZc.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
17g.67128764A>TCA400711293HELZc.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
17g.67128765A>CCA501487665HELZc.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
17g.67128765A>GCA501487666HELZc.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
17g.67128765A>TCA501487667HELZc.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
17g.67128766G>ACA400711298HELZc.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
17g.67128766G>CCA400711299HELZc.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
17g.67128766G>TCA400711297HELZc.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
17g.67128767C>ACA400711300HELZc.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
17g.67128767C>GCA400711301HELZc.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
17g.67128767C>TCA400711302HELZc.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
17g.67128768C>ACA400711303HELZc.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
17g.67128768C=CA2271598010HELZc.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=
17g.67128768C>GCA400711304HELZc.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
17g.67128768C>TCA501487670HELZc.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
17g.67128769T>ACA400711305HELZc.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
17g.67128769T>CCA400711306HELZc.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
17g.67128769T>GCA400711307HELZc.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
17g.67128770C>ACA400711308HELZc.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
17g.67128770C>GCA400711309HELZc.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
17g.67128770C>TCA400711310HELZc.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
17g.67128771T>ACA400711311HELZc.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
17g.67128771T>CCA501487673HELZc.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
17g.67128771T>GCA400711312HELZc.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
17g.67128772A>CCA400711315HELZc.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
17g.67128772A>GCA400711314HELZc.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
17g.67128772A>TCA400711313HELZc.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
17g.67128773A>CCA400711316HELZc.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
17g.67128773A>GCA501487675HELZc.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
17g.67128773A>TCA400711317HELZc.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
17g.67128774C>ACA400711318HELZc.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
17g.67128774C=CA2271598011HELZc.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=
17g.67128774C>GCA400711319HELZc.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
17g.67128774C>TCA501487676HELZc.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
17g.67128775T>ACA400711320HELZc.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
17g.67128775T>CCA400711321HELZc.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
17g.67128775T>GCA400711322HELZc.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
17g.67128776G>ACA400711323HELZc.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
17g.67128776G>CCA400711324HELZc.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
17g.67128776G>TCA400711325HELZc.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
17g.67128777G>ACA501487679HELZc.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
17g.67128777G>CCA501487680HELZc.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
17g.67128777G>TCA501487678HELZc.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
17g.67128778G>ACA400711326HELZc.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
17g.67128778G>CCA400711327HELZc.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
17g.67128778G>TCA400711328HELZc.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
17g.67128779C>ACA400711330HELZc.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
17g.67128779C>GCA400711331HELZc.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
17g.67128779C>TCA400711329HELZc.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
17g.67128780T>ACA400711333HELZc.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
17g.67128780T>CCA501487681HELZc.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
17g.67128780T>GCA400711332HELZc.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
17g.67128781T>ACA400711336HELZc.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
17g.67128781T>CCA400711334HELZc.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
17g.67128781T>GCA400711335HELZc.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
17g.67128781T=CA2271598012HELZc.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=
17g.67128782T>ACA400711337HELZc.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
17g.67128782T>CCA400711338HELZc.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
17g.67128782T>GCA400711339HELZc.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
17g.67128783G>ACA501487682HELZc.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
17g.67128783G>CCA400711340HELZc.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
17g.67128783G>TCA501487683HELZc.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
17g.67128784A>CCA400711341HELZc.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
17g.67128784A>GCA400711342HELZc.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
17g.67128784A>TCA400711343HELZc.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
17g.67128785T>ACA400711344HELZc.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
17g.67128785T>CCA400711345HELZc.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
17g.67128785T>GCA400711346HELZc.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
17g.67128785T=CA2271598013HELZc.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=
17g.67128786C>ACA400711347HELZc.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
17g.67128786C>GCA400711348HELZc.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
17g.67128786C>TCA501487684HELZc.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
17g.67128787T>ACA400711349HELZc.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
17g.67128787T>CCA400711350HELZc.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
17g.67128787T>GCA400711351HELZc.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
17g.67128787T=CA2271598014HELZc.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=
17g.67128788G>ACA400711352HELZc.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
17g.67128788G>CCA400711353HELZc.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
17g.67128788G=CA2271598015HELZc.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=
17g.67128788G>TCA400711354HELZc.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
17g.67128789T>ACA400711355HELZc.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
17g.67128789T>CCA501487685HELZc.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
17g.67128789T>GCA400711356HELZc.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
17g.67128789T=CA2271598016HELZc.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=
17g.67128790T>ACA400711357HELZc.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
17g.67128790T>CCA400711358HELZc.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
17g.67128790T>GCA400711359HELZc.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
17g.67128790_67128791delinsATCA645570859HELZc.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
17g.67128791delCA2734078451HELZc.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
17g.67128791C>ACA400711361HELZc.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
17g.67128791C>GCA400711362HELZc.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
17g.67128791C>TCA400711360HELZc.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
17g.67128792A>CCA400711363HELZc.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
17g.67128792A>GCA501487686HELZc.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
17g.67128792A>TCA400711364HELZc.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
17g.67128793A>CCA400711365HELZc.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
17g.67128793A>GCA400711366HELZc.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
17g.67128793A>TCA400711367HELZc.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
17g.67128794A>CCA400711368HELZc.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
17g.67128794A>GCA400711369HELZc.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
17g.67128794A>TCA400711370HELZc.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
17g.67128795A>CCA501487687HELZc.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
17g.67128795A>GCA501487688HELZc.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
17g.67128795A>TCA501487689HELZc.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
17g.67128796G>ACA400711371HELZc.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
17g.67128796G>CCA400711372HELZc.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
17g.67128796G>TCA400711373HELZc.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
17g.67128797T>ACA400711374HELZc.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
17g.67128797T>CCA400711375HELZc.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
17g.67128797T>GCA400711376HELZc.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
17g.67128798G>ACA501487690HELZc.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
17g.67128798G>CCA400711377HELZc.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
17g.67128798G>TCA501487691HELZc.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
17g.67128799A>CCA400711378HELZc.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
17g.67128799A>GCA400711379HELZc.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
17g.67128799A>TCA400711380HELZc.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
17g.67128800T>ACA400711381HELZc.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
17g.67128800T>CCA400711382HELZc.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
17g.67128800T>GCA400711383HELZc.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
17g.67128800T=CA2271598017HELZc.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=
17g.67128801T>ACA501487692HELZc.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
17g.67128801T>CCA501487693HELZc.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
17g.67128801T>GCA501487694HELZc.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
17g.67128802C>ACA400711384HELZc.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
17g.67128802C>GCA400711385HELZc.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
17g.67128802C>TCA400711386HELZc.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
17g.67128803C>ACA400711387HELZc.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
17g.67128803C>GCA400711388HELZc.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
17g.67128803C>TCA400711389HELZc.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
17g.67128804A=CA2271598018HELZc.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=
17g.67128804A>CCA400711390HELZc.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
17g.67128804A>GCA293205859HELZc.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
17g.67128804A>TCA400711391HELZc.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
17g.67128805T>ACA400711393HELZc.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
17g.67128805T>CCA293205860HELZc.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
17g.67128805T>GCA400711392HELZc.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
17g.67128805T=CA2271598019HELZc.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=
17g.67128806G>ACA400711396HELZc.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
17g.67128806G>CCA400711394HELZc.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
17g.67128806G>TCA400711395HELZc.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
17g.67128807T>ACA501487695HELZc.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
17g.67128807T>CCA501487696HELZc.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
17g.67128807T>GCA501487697HELZc.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
17g.67128807T=CA2271598020HELZc.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=
17g.67128808A>CCA400711397HELZc.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
17g.67128808A>GCA400711398HELZc.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
17g.67128808A>TCA400711399HELZc.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
17g.67128809G>ACA8722784HELZc.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
17g.67128809G>CCA400711400HELZc.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
17g.67128809G=CA2271598021HELZc.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=
17g.67128809G>TCA400711401HELZc.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
17g.67128810G>ACA501487698HELZc.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
17g.67128810G>CCA400711402HELZc.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
17g.67128810G>TCA400711403HELZc.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
17g.67128811C>ACA400711404HELZc.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
17g.67128811C>GCA400711405HELZc.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
17g.67128811C>TCA400711406HELZc.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
17g.67128812T>ACA400711408HELZc.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
17g.67128812T>CCA400711409HELZc.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
17g.67128812T>GCA400711407HELZc.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
17g.67128813A>CCA400711410HELZc.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
17g.67128813A>GCA501487699HELZc.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
17g.67128813A>TCA400711411HELZc.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
17g.67128814C>ACA400711412HELZc.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
17g.67128814C=CA2271598022HELZc.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=
17g.67128814C>GCA400711413HELZc.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
17g.67128814C>TCA8722785HELZc.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
17g.67128815T>ACA400711415HELZc.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
17g.67128815T>CCA8722786HELZc.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
17g.67128815T>GCA400711414HELZc.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
17g.67128815T=CA2271598023HELZc.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=
17g.67128816G>ACA501487700HELZc.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
17g.67128816G>CCA400711416HELZc.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
17g.67128816G>TCA400711417HELZc.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
17g.67128817T>ACA400711418HELZc.3221A>T (p.Asn1074Ile)
c.3224A>T (p.Asn1075Ile)
c.3302A>T (p.Asn1101Ile)
c.3200A>T (p.Asn1067Ile)
c.3305A>T (p.Asn1102Ile)
c.2600A>T (p.Asn867Ile)
c.2129A>T (p.Asn710Ile)
n.3296A>T
c.2516A>T (p.Asn839Ile)
c.2048A>T (p.Asn683Ile)
n.3396A>T
n.3248A>T
n.3164A>T
17g.67128817T>CCA400711419HELZc.3221A>G (p.Asn1074Ser)
c.3224A>G (p.Asn1075Ser)
c.3302A>G (p.Asn1101Ser)
c.3200A>G (p.Asn1067Ser)
c.3305A>G (p.Asn1102Ser)
c.2600A>G (p.Asn867Ser)
c.2129A>G (p.Asn710Ser)
n.3296A>G
c.2516A>G (p.Asn839Ser)
c.2048A>G (p.Asn683Ser)
n.3396A>G
n.3248A>G
n.3164A>G
17g.67128817T>GCA400711420HELZc.3221A>C (p.Asn1074Thr)
c.3224A>C (p.Asn1075Thr)
c.3302A>C (p.Asn1101Thr)
c.3200A>C (p.Asn1067Thr)
c.3305A>C (p.Asn1102Thr)
c.2600A>C (p.Asn867Thr)
c.2129A>C (p.Asn710Thr)
n.3296A>C
c.2516A>C (p.Asn839Thr)
c.2048A>C (p.Asn683Thr)
n.3396A>C
n.3248A>C
n.3164A>C
17g.67128818T>ACA400711423HELZc.3220A>T (p.Asn1074Tyr)
c.3223A>T (p.Asn1075Tyr)
c.3301A>T (p.Asn1101Tyr)
c.3199A>T (p.Asn1067Tyr)
c.3304A>T (p.Asn1102Tyr)
c.2599A>T (p.Asn867Tyr)
c.2128A>T (p.Asn710Tyr)
n.3295A>T
c.2515A>T (p.Asn839Tyr)
c.2047A>T (p.Asn683Tyr)
n.3395A>T
n.3247A>T
n.3163A>T
17g.67128818T>CCA400711422HELZc.3220A>G (p.Asn1074Asp)
c.3223A>G (p.Asn1075Asp)
c.3301A>G (p.Asn1101Asp)
c.3199A>G (p.Asn1067Asp)
c.3304A>G (p.Asn1102Asp)
c.2599A>G (p.Asn867Asp)
c.2128A>G (p.Asn710Asp)
n.3295A>G
c.2515A>G (p.Asn839Asp)
c.2047A>G (p.Asn683Asp)
n.3395A>G
n.3247A>G
n.3163A>G
17g.67128818T>GCA400711421HELZc.3220A>C (p.Asn1074His)
c.3223A>C (p.Asn1075His)
c.3301A>C (p.Asn1101His)
c.3199A>C (p.Asn1067His)
c.3304A>C (p.Asn1102His)
c.2599A>C (p.Asn867His)
c.2128A>C (p.Asn710His)
n.3295A>C
c.2515A>C (p.Asn839His)
c.2047A>C (p.Asn683His)
n.3395A>C
n.3247A>C
n.3163A>C
17g.67128819T>ACA400711424HELZc.3219A>T (p.Glu1073Asp)
c.3222A>T (p.Glu1074Asp)
c.3300A>T (p.Glu1100Asp)
c.3198A>T (p.Glu1066Asp)
c.3303A>T (p.Glu1101Asp)
c.2598A>T (p.Glu866Asp)
c.2127A>T (p.Glu709Asp)
n.3294A>T
c.2514A>T (p.Glu838Asp)
c.2046A>T (p.Glu682Asp)
n.3394A>T
n.3246A>T
n.3162A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.67128819T>CCA8722787HELZc.3219A>G (p.Glu1073=)
c.3222A>G (p.Glu1074=)
c.3300A>G (p.Glu1100=)
c.3198A>G (p.Glu1066=)
c.3303A>G (p.Glu1101=)
c.2598A>G (p.Glu866=)
c.2127A>G (p.Glu709=)
n.3294A>G
c.2514A>G (p.Glu838=)
c.2046A>G (p.Glu682=)
n.3394A>G
n.3246A>G
n.3162A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.67128819T>GCA400711425HELZc.3219A>C (p.Glu1073Asp)
c.3222A>C (p.Glu1074Asp)
c.3300A>C (p.Glu1100Asp)
c.3198A>C (p.Glu1066Asp)
c.3303A>C (p.Glu1101Asp)
c.2598A>C (p.Glu866Asp)
c.2127A>C (p.Glu709Asp)
n.3294A>C
c.2514A>C (p.Glu838Asp)
c.2046A>C (p.Glu682Asp)
n.3394A>C
n.3246A>C
n.3162A>C
17g.67128819T=CA2271598024HELZc.3219A= (p.Glu1073=)
c.3222A= (p.Glu1074=)
c.3300A= (p.Glu1100=)
c.3198A= (p.Glu1066=)
c.3303A= (p.Glu1101=)
c.2598A= (p.Glu866=)
c.2127A= (p.Glu709=)
n.3294A=
c.2514A= (p.Glu838=)
c.2046A= (p.Glu682=)
n.3394A=
n.3246A=
n.3162A=
17g.67128820T>ACA400711426HELZc.3218A>T (p.Glu1073Val)
c.3221A>T (p.Glu1074Val)
c.3299A>T (p.Glu1100Val)
c.3197A>T (p.Glu1066Val)
c.3302A>T (p.Glu1101Val)
c.2597A>T (p.Glu866Val)
c.2126A>T (p.Glu709Val)
n.3293A>T
c.2513A>T (p.Glu838Val)
c.2045A>T (p.Glu682Val)
n.3393A>T
n.3245A>T
n.3161A>T
17g.67128820T>CCA8722788HELZc.3218A>G (p.Glu1073Gly)
c.3221A>G (p.Glu1074Gly)
c.3299A>G (p.Glu1100Gly)
c.3197A>G (p.Glu1066Gly)
c.3302A>G (p.Glu1101Gly)
c.2597A>G (p.Glu866Gly)
c.2126A>G (p.Glu709Gly)
n.3293A>G
c.2513A>G (p.Glu838Gly)
c.2045A>G (p.Glu682Gly)
n.3393A>G
n.3245A>G
n.3161A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.67128820T>GCA400711427HELZc.3218A>C (p.Glu1073Ala)
c.3221A>C (p.Glu1074Ala)
c.3299A>C (p.Glu1100Ala)
c.3197A>C (p.Glu1066Ala)
c.3302A>C (p.Glu1101Ala)
c.2597A>C (p.Glu866Ala)
c.2126A>C (p.Glu709Ala)
n.3293A>C
c.2513A>C (p.Glu838Ala)
c.2045A>C (p.Glu682Ala)
n.3393A>C
n.3245A>C
n.3161A>C
17g.67128820T=CA2271598025HELZc.3218A= (p.Glu1073=)
c.3221A= (p.Glu1074=)
c.3299A= (p.Glu1100=)
c.3197A= (p.Glu1066=)
c.3302A= (p.Glu1101=)
c.2597A= (p.Glu866=)
c.2126A= (p.Glu709=)
n.3293A=
c.2513A= (p.Glu838=)
c.2045A= (p.Glu682=)
n.3393A=
n.3245A=
n.3161A=
17g.67128821C>ACA400711430HELZc.3217G>T (p.Glu1073Ter)
c.3220G>T (p.Glu1074Ter)
c.3298G>T (p.Glu1100Ter)
c.3196G>T (p.Glu1066Ter)
c.3301G>T (p.Glu1101Ter)
c.2596G>T (p.Glu866Ter)
c.2125G>T (p.Glu709Ter)
n.3292G>T
c.2512G>T (p.Glu838Ter)
c.2044G>T (p.Glu682Ter)
n.3392G>T
n.3244G>T
n.3160G>T
17g.67128821C>GCA400711429HELZc.3217G>C (p.Glu1073Gln)
c.3220G>C (p.Glu1074Gln)
c.3298G>C (p.Glu1100Gln)
c.3196G>C (p.Glu1066Gln)
c.3301G>C (p.Glu1101Gln)
c.2596G>C (p.Glu866Gln)
c.2125G>C (p.Glu709Gln)
n.3292G>C
c.2512G>C (p.Glu838Gln)
c.2044G>C (p.Glu682Gln)
n.3392G>C
n.3244G>C
n.3160G>C
17g.67128821C>TCA400711428HELZc.3217G>A (p.Glu1073Lys)
c.3220G>A (p.Glu1074Lys)
c.3298G>A (p.Glu1100Lys)
c.3196G>A (p.Glu1066Lys)
c.3301G>A (p.Glu1101Lys)
c.2596G>A (p.Glu866Lys)
c.2125G>A (p.Glu709Lys)
n.3292G>A
c.2512G>A (p.Glu838Lys)
c.2044G>A (p.Glu682Lys)
n.3392G>A
n.3244G>A
n.3160G>A
17g.67128822A=CA2271598026HELZc.3216T= (p.His1072=)
c.3219T= (p.His1073=)
c.3297T= (p.His1099=)
c.3195T= (p.His1065=)
c.3300T= (p.His1100=)
c.2595T= (p.His865=)
c.2124T= (p.His708=)
n.3291T=
c.2511T= (p.His837=)
c.2043T= (p.His681=)
n.3391T=
n.3243T=
n.3159T=
17g.67128822A>CCA400711431HELZc.3216T>G (p.His1072Gln)
c.3219T>G (p.His1073Gln)
c.3297T>G (p.His1099Gln)
c.3195T>G (p.His1065Gln)
c.3300T>G (p.His1100Gln)
c.2595T>G (p.His865Gln)
c.2124T>G (p.His708Gln)
n.3291T>G
c.2511T>G (p.His837Gln)
c.2043T>G (p.His681Gln)
n.3391T>G
n.3243T>G
n.3159T>G
17g.67128822A>GCA8722789HELZc.3216T>C (p.His1072=)
c.3219T>C (p.His1073=)
c.3297T>C (p.His1099=)
c.3195T>C (p.His1065=)
c.3300T>C (p.His1100=)
c.2595T>C (p.His865=)
c.2124T>C (p.His708=)
n.3291T>C
c.2511T>C (p.His837=)
c.2043T>C (p.His681=)
n.3391T>C
n.3243T>C
n.3159T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.67128822A>TCA400711432HELZc.3216T>A (p.His1072Gln)
c.3219T>A (p.His1073Gln)
c.3297T>A (p.His1099Gln)
c.3195T>A (p.His1065Gln)
c.3300T>A (p.His1100Gln)
c.2595T>A (p.His865Gln)
c.2124T>A (p.His708Gln)
n.3291T>A
c.2511T>A (p.His837Gln)
c.2043T>A (p.His681Gln)
n.3391T>A
n.3243T>A
n.3159T>A

Number of alleles fetched