Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.74721659_74721726dupCA2674242253GFM2,HEXBc.2272_2339dup (p.Ter780TyrextTer7)
c.2131_2198dup (p.Ter733TyrextTer7)
c.608+223_608+290dup
c.255+223_255+290dup
n.380+223_380+290dup
n.675_742dup
c.2368_2435dup (p.Ter812TyrextTer7)
n.2591_2658dup
c.2137_2204dup (p.Ter735TyrextTer7)
n.3558_3625dup
n.2337_2404dup
 gnomAD v4
5g.74721672_74721674delCA2674242254GFM2,HEXBc.2322_2324del (p.Arg775del)
c.2181_2183del (p.Arg728del)
c.608+236_608+238del
c.255+236_255+238del
n.380+236_380+238del
n.725_727del
c.2418_2420del (p.Arg807del)
n.2641_2643del
c.2187_2189del (p.Arg730del)
n.3608_3610del
n.2387_2389del
 gnomAD v4
5g.74721674C>ACA3306294GFM2,HEXBc.2321G>T (p.Arg774Leu)
c.2180G>T (p.Arg727Leu)
c.608+238C>A
c.255+238C>A
n.380+238C>A
n.724G>T
c.2417G>T (p.Arg806Leu)
n.2640G>T
c.2186G>T (p.Arg729Leu)
n.3607G>T
n.2386G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721674C=CA1555784319GFM2,HEXBc.2321G= (p.Arg774=)
c.2180G= (p.Arg727=)
c.608+238C=
c.255+238C=
n.380+238C=
n.724G=
c.2417G= (p.Arg806=)
n.2640G=
c.2186G= (p.Arg729=)
n.3607G=
n.2386G=
5g.74721674C>GCA360072337GFM2,HEXBc.2321G>C (p.Arg774Pro)
c.2180G>C (p.Arg727Pro)
c.608+238C>G
c.255+238C>G
n.380+238C>G
n.724G>C
c.2417G>C (p.Arg806Pro)
n.2640G>C
c.2186G>C (p.Arg729Pro)
n.3607G>C
n.2386G>C
5g.74721674C>TCA291087GFM2,HEXBc.2321G>A (p.Arg774Gln)
c.2180G>A (p.Arg727Gln)
c.608+238C>T
c.255+238C>T
n.380+238C>T
n.724G>A
c.2417G>A (p.Arg806Gln)
n.2640G>A
c.2186G>A (p.Arg729Gln)
n.3607G>A
n.2386G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74721675G>ACA3306295GFM2,HEXBc.2320C>T (p.Arg774Trp)
c.2179C>T (p.Arg727Trp)
c.608+239G>A
c.255+239G>A
n.380+239G>A
n.723C>T
c.2416C>T (p.Arg806Trp)
n.2639C>T
c.2185C>T (p.Arg729Trp)
n.3606C>T
n.2385C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74721675G>CCA360072340GFM2,HEXBc.2320C>G (p.Arg774Gly)
c.2179C>G (p.Arg727Gly)
c.608+239G>C
c.255+239G>C
n.380+239G>C
n.723C>G
c.2416C>G (p.Arg806Gly)
n.2639C>G
c.2185C>G (p.Arg729Gly)
n.3606C>G
n.2385C>G
5g.74721675G=CA1555784320GFM2,HEXBc.2320C= (p.Arg774=)
c.2179C= (p.Arg727=)
c.608+239G=
c.255+239G=
n.380+239G=
n.723C=
c.2416C= (p.Arg806=)
n.2639C=
c.2185C= (p.Arg729=)
n.3606C=
n.2385C=
5g.74721675G>TCA444849871GFM2,HEXBc.2320C>A (p.Arg774=)
c.2179C>A (p.Arg727=)
c.608+239G>T
c.255+239G>T
n.380+239G>T
n.723C>A
c.2416C>A (p.Arg806=)
n.2639C>A
c.2185C>A (p.Arg729=)
n.3606C>A
n.2385C>A
5g.74721676G>ACA444849877GFM2,HEXBc.2319C>T (p.Asn773=)
c.2178C>T (p.Asn726=)
c.608+240G>A
c.255+240G>A
n.380+240G>A
n.722C>T
c.2415C>T (p.Asn805=)
n.2638C>T
c.2184C>T (p.Asn728=)
n.3605C>T
n.2384C>T
5g.74721676G>CCA360072344GFM2,HEXBc.2319C>G (p.Asn773Lys)
c.2178C>G (p.Asn726Lys)
c.608+240G>C
c.255+240G>C
n.380+240G>C
n.722C>G
c.2415C>G (p.Asn805Lys)
n.2638C>G
c.2184C>G (p.Asn728Lys)
n.3605C>G
n.2384C>G
5g.74721676G>TCA360072346GFM2,HEXBc.2319C>A (p.Asn773Lys)
c.2178C>A (p.Asn726Lys)
c.608+240G>T
c.255+240G>T
n.380+240G>T
n.722C>A
c.2415C>A (p.Asn805Lys)
n.2638C>A
c.2184C>A (p.Asn728Lys)
n.3605C>A
n.2384C>A
5g.74721677_74721701dupCA1555784321GFM2,HEXBc.2295_2319dup (p.Arg774SerfsTer28)
c.2154_2178dup (p.Arg727SerfsTer28)
c.608+241_608+265dup
c.255+241_255+265dup
n.380+241_380+265dup
n.698_722dup
c.2391_2415dup (p.Arg806SerfsTer28)
n.2614_2638dup
c.2160_2184dup (p.Arg729SerfsTer28)
n.3581_3605dup
n.2360_2384dup
 dbSNP gnomAD v4
5g.74721677T>ACA360072354GFM2,HEXBc.2318A>T (p.Asn773Ile)
c.2177A>T (p.Asn726Ile)
c.608+241T>A
c.255+241T>A
n.380+241T>A
n.721A>T
c.2414A>T (p.Asn805Ile)
n.2637A>T
c.2183A>T (p.Asn728Ile)
n.3604A>T
n.2383A>T
 gnomAD v4
5g.74721677T>CCA360072351GFM2,HEXBc.2318A>G (p.Asn773Ser)
c.2177A>G (p.Asn726Ser)
c.608+241T>C
c.255+241T>C
n.380+241T>C
n.721A>G
c.2414A>G (p.Asn805Ser)
n.2637A>G
c.2183A>G (p.Asn728Ser)
n.3604A>G
n.2383A>G
 gnomAD v4
5g.74721677T>GCA360072349GFM2,HEXBc.2318A>C (p.Asn773Thr)
c.2177A>C (p.Asn726Thr)
c.608+241T>G
c.255+241T>G
n.380+241T>G
n.721A>C
c.2414A>C (p.Asn805Thr)
n.2637A>C
c.2183A>C (p.Asn728Thr)
n.3604A>C
n.2383A>C
5g.74721678T>ACA360072358GFM2,HEXBc.2317A>T (p.Asn773Tyr)
c.2176A>T (p.Asn726Tyr)
c.608+242T>A
c.255+242T>A
n.380+242T>A
n.720A>T
c.2413A>T (p.Asn805Tyr)
n.2636A>T
c.2182A>T (p.Asn728Tyr)
n.3603A>T
n.2382A>T
5g.74721678T>CCA360072361GFM2,HEXBc.2317A>G (p.Asn773Asp)
c.2176A>G (p.Asn726Asp)
c.608+242T>C
c.255+242T>C
n.380+242T>C
n.720A>G
c.2413A>G (p.Asn805Asp)
n.2636A>G
c.2182A>G (p.Asn728Asp)
n.3603A>G
n.2382A>G
5g.74721678T>GCA360072363GFM2,HEXBc.2317A>C (p.Asn773His)
c.2176A>C (p.Asn726His)
c.608+242T>G
c.255+242T>G
n.380+242T>G
n.720A>C
c.2413A>C (p.Asn805His)
n.2636A>C
c.2182A>C (p.Asn728His)
n.3603A>C
n.2382A>C
5g.74721679G>ACA444849890GFM2,HEXBc.2316C>T (p.Leu772=)
c.2175C>T (p.Leu725=)
c.608+243G>A
c.255+243G>A
n.380+243G>A
n.719C>T
c.2412C>T (p.Leu804=)
n.2635C>T
c.2181C>T (p.Leu727=)
n.3602C>T
n.2381C>T
5g.74721679G>CCA444849891GFM2,HEXBc.2316C>G (p.Leu772=)
c.2175C>G (p.Leu725=)
c.608+243G>C
c.255+243G>C
n.380+243G>C
n.719C>G
c.2412C>G (p.Leu804=)
n.2635C>G
c.2181C>G (p.Leu727=)
n.3602C>G
n.2381C>G
5g.74721679G>TCA444849893GFM2,HEXBc.2316C>A (p.Leu772=)
c.2175C>A (p.Leu725=)
c.608+243G>T
c.255+243G>T
n.380+243G>T
n.719C>A
c.2412C>A (p.Leu804=)
n.2635C>A
c.2181C>A (p.Leu727=)
n.3602C>A
n.2381C>A
 gnomAD v4
5g.74721679dupCA2767029865GFM2,HEXBc.2316dup (p.Asn773GlnfsTer21)
c.2175dup (p.Asn726GlnfsTer21)
c.608+243dup
c.255+243dup
n.380+243dup
n.719dup
c.2412dup (p.Asn805GlnfsTer21)
n.2635dup
c.2181dup (p.Asn728GlnfsTer21)
n.3602dup
n.2381dup
5g.74721680A>CCA360072368GFM2,HEXBc.2315T>G (p.Leu772Arg)
c.2174T>G (p.Leu725Arg)
c.608+244A>C
c.255+244A>C
n.380+244A>C
n.718T>G
c.2411T>G (p.Leu804Arg)
n.2634T>G
c.2180T>G (p.Leu727Arg)
n.3601T>G
n.2380T>G
5g.74721680A>GCA360072371GFM2,HEXBc.2315T>C (p.Leu772Pro)
c.2174T>C (p.Leu725Pro)
c.608+244A>G
c.255+244A>G
n.380+244A>G
n.718T>C
c.2411T>C (p.Leu804Pro)
n.2634T>C
c.2180T>C (p.Leu727Pro)
n.3601T>C
n.2380T>C
5g.74721680A>TCA360072374GFM2,HEXBc.2315T>A (p.Leu772His)
c.2174T>A (p.Leu725His)
c.608+244A>T
c.255+244A>T
n.380+244A>T
n.718T>A
c.2411T>A (p.Leu804His)
n.2634T>A
c.2180T>A (p.Leu727His)
n.3601T>A
n.2380T>A
5g.74721681G>ACA3306296GFM2,HEXBc.2314C>T (p.Leu772Phe)
c.2173C>T (p.Leu725Phe)
c.608+245G>A
c.255+245G>A
n.380+245G>A
n.717C>T
c.2410C>T (p.Leu804Phe)
n.2633C>T
c.2179C>T (p.Leu727Phe)
n.3600C>T
n.2379C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74721681G>CCA360072383GFM2,HEXBc.2314C>G (p.Leu772Val)
c.2173C>G (p.Leu725Val)
c.608+245G>C
c.255+245G>C
n.380+245G>C
n.717C>G
c.2410C>G (p.Leu804Val)
n.2633C>G
c.2179C>G (p.Leu727Val)
n.3600C>G
n.2379C>G
5g.74721681G=CA1555784322GFM2,HEXBc.2314C= (p.Leu772=)
c.2173C= (p.Leu725=)
c.608+245G=
c.255+245G=
n.380+245G=
n.717C=
c.2410C= (p.Leu804=)
n.2633C=
c.2179C= (p.Leu727=)
n.3600C=
n.2379C=
5g.74721681G>TCA360072379GFM2,HEXBc.2314C>A (p.Leu772Ile)
c.2173C>A (p.Leu725Ile)
c.608+245G>T
c.255+245G>T
n.380+245G>T
n.717C>A
c.2410C>A (p.Leu804Ile)
n.2633C>A
c.2179C>A (p.Leu727Ile)
n.3600C>A
n.2379C>A
5g.74721682C>ACA444849904GFM2,HEXBc.2313G>T (p.Leu771=)
c.2172G>T (p.Leu724=)
c.608+246C>A
c.255+246C>A
n.380+246C>A
n.716G>T
c.2409G>T (p.Leu803=)
n.2632G>T
c.2178G>T (p.Leu726=)
n.3599G>T
n.2378G>T
5g.74721682C>GCA444849906GFM2,HEXBc.2313G>C (p.Leu771=)
c.2172G>C (p.Leu724=)
c.608+246C>G
c.255+246C>G
n.380+246C>G
n.716G>C
c.2409G>C (p.Leu803=)
n.2632G>C
c.2178G>C (p.Leu726=)
n.3599G>C
n.2378G>C
5g.74721682C>TCA444849910GFM2,HEXBc.2313G>A (p.Leu771=)
c.2172G>A (p.Leu724=)
c.608+246C>T
c.255+246C>T
n.380+246C>T
n.716G>A
c.2409G>A (p.Leu803=)
n.2632G>A
c.2178G>A (p.Leu726=)
n.3599G>A
n.2378G>A
5g.74721683A>CCA360072387GFM2,HEXBc.2312T>G (p.Leu771Arg)
c.2171T>G (p.Leu724Arg)
c.608+247A>C
c.255+247A>C
n.380+247A>C
n.715T>G
c.2408T>G (p.Leu803Arg)
n.2631T>G
c.2177T>G (p.Leu726Arg)
n.3598T>G
n.2377T>G
5g.74721683A>GCA360072393GFM2,HEXBc.2312T>C (p.Leu771Pro)
c.2171T>C (p.Leu724Pro)
c.608+247A>G
c.255+247A>G
n.380+247A>G
n.715T>C
c.2408T>C (p.Leu803Pro)
n.2631T>C
c.2177T>C (p.Leu726Pro)
n.3598T>C
n.2377T>C
5g.74721683A>TCA360072390GFM2,HEXBc.2312T>A (p.Leu771Gln)
c.2171T>A (p.Leu724Gln)
c.608+247A>T
c.255+247A>T
n.380+247A>T
n.715T>A
c.2408T>A (p.Leu803Gln)
n.2631T>A
c.2177T>A (p.Leu726Gln)
n.3598T>A
n.2377T>A
5g.74721684G>ACA444849913GFM2,HEXBc.2311C>T (p.Leu771=)
c.2170C>T (p.Leu724=)
c.608+248G>A
c.255+248G>A
n.380+248G>A
n.714C>T
c.2407C>T (p.Leu803=)
n.2630C>T
c.2176C>T (p.Leu726=)
n.3597C>T
n.2376C>T
 dbSNP gnomAD v3 gnomAD v4
5g.74721684G>CCA360072395GFM2,HEXBc.2311C>G (p.Leu771Val)
c.2170C>G (p.Leu724Val)
c.608+248G>C
c.255+248G>C
n.380+248G>C
n.714C>G
c.2407C>G (p.Leu803Val)
n.2630C>G
c.2176C>G (p.Leu726Val)
n.3597C>G
n.2376C>G
5g.74721684G=CA1555784323GFM2,HEXBc.2311C= (p.Leu771=)
c.2170C= (p.Leu724=)
c.608+248G=
c.255+248G=
n.380+248G=
n.714C=
c.2407C= (p.Leu803=)
n.2630C=
c.2176C= (p.Leu726=)
n.3597C=
n.2376C=
5g.74721684G>TCA360072397GFM2,HEXBc.2311C>A (p.Leu771Met)
c.2170C>A (p.Leu724Met)
c.608+248G>T
c.255+248G>T
n.380+248G>T
n.714C>A
c.2407C>A (p.Leu803Met)
n.2630C>A
c.2176C>A (p.Leu726Met)
n.3597C>A
n.2376C>A
5g.74721685T>ACA444849918GFM2,HEXBc.2310A>T (p.Thr770=)
c.2169A>T (p.Thr723=)
c.608+249T>A
c.255+249T>A
n.380+249T>A
n.713A>T
c.2406A>T (p.Thr802=)
n.2629A>T
c.2175A>T (p.Thr725=)
n.3596A>T
n.2375A>T
5g.74721685T>CCA444849920GFM2,HEXBc.2310A>G (p.Thr770=)
c.2169A>G (p.Thr723=)
c.608+249T>C
c.255+249T>C
n.380+249T>C
n.713A>G
c.2406A>G (p.Thr802=)
n.2629A>G
c.2175A>G (p.Thr725=)
n.3596A>G
n.2375A>G
 gnomAD v4
5g.74721685T>GCA444849923GFM2,HEXBc.2310A>C (p.Thr770=)
c.2169A>C (p.Thr723=)
c.608+249T>G
c.255+249T>G
n.380+249T>G
n.713A>C
c.2406A>C (p.Thr802=)
n.2629A>C
c.2175A>C (p.Thr725=)
n.3596A>C
n.2375A>C
5g.74721686G>ACA3306297GFM2,HEXBc.2309C>T (p.Thr770Ile)
c.2168C>T (p.Thr723Ile)
c.608+250G>A
c.255+250G>A
n.380+250G>A
n.712C>T
c.2405C>T (p.Thr802Ile)
n.2628C>T
c.2174C>T (p.Thr725Ile)
n.3595C>T
n.2374C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721686G>CCA360072401GFM2,HEXBc.2309C>G (p.Thr770Arg)
c.2168C>G (p.Thr723Arg)
c.608+250G>C
c.255+250G>C
n.380+250G>C
n.712C>G
c.2405C>G (p.Thr802Arg)
n.2628C>G
c.2174C>G (p.Thr725Arg)
n.3595C>G
n.2374C>G
 gnomAD v4
5g.74721686G=CA1555784324GFM2,HEXBc.2309C= (p.Thr770=)
c.2168C= (p.Thr723=)
c.608+250G=
c.255+250G=
n.380+250G=
n.712C=
c.2405C= (p.Thr802=)
n.2628C=
c.2174C= (p.Thr725=)
n.3595C=
n.2374C=
5g.74721686G>TCA360072404GFM2,HEXBc.2309C>A (p.Thr770Lys)
c.2168C>A (p.Thr723Lys)
c.608+250G>T
c.255+250G>T
n.380+250G>T
n.712C>A
c.2405C>A (p.Thr802Lys)
n.2628C>A
c.2174C>A (p.Thr725Lys)
n.3595C>A
n.2374C>A
5g.74721687T>ACA360072408GFM2,HEXBc.2308A>T (p.Thr770Ser)
c.2167A>T (p.Thr723Ser)
c.608+251T>A
c.255+251T>A
n.380+251T>A
n.711A>T
c.2404A>T (p.Thr802Ser)
n.2627A>T
c.2173A>T (p.Thr725Ser)
n.3594A>T
n.2373A>T
5g.74721687T>CCA360072410GFM2,HEXBc.2308A>G (p.Thr770Ala)
c.2167A>G (p.Thr723Ala)
c.608+251T>C
c.255+251T>C
n.380+251T>C
n.711A>G
c.2404A>G (p.Thr802Ala)
n.2627A>G
c.2173A>G (p.Thr725Ala)
n.3594A>G
n.2373A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.74721687T>GCA360072412GFM2,HEXBc.2308A>C (p.Thr770Pro)
c.2167A>C (p.Thr723Pro)
c.608+251T>G
c.255+251T>G
n.380+251T>G
n.711A>C
c.2404A>C (p.Thr802Pro)
n.2627A>C
c.2173A>C (p.Thr725Pro)
n.3594A>C
n.2373A>C
5g.74721687T=CA1555784325GFM2,HEXBc.2308A= (p.Thr770=)
c.2167A= (p.Thr723=)
c.608+251T=
c.255+251T=
n.380+251T=
n.711A=
c.2404A= (p.Thr802=)
n.2627A=
c.2173A= (p.Thr725=)
n.3594A=
n.2373A=
5g.74721687dupCA3306298GFM2,HEXBc.2308dup (p.Thr770AsnfsTer24)
c.2167dup (p.Thr723AsnfsTer24)
c.608+251dup
c.255+251dup
n.380+251dup
n.711dup
c.2404dup (p.Thr802AsnfsTer24)
n.2627dup
c.2173dup (p.Thr725AsnfsTer24)
n.3594dup
n.2373dup
 dbSNP ExAC gnomAD v2
5g.74721688A>CCA360072415GFM2,HEXBc.2307T>G (p.Asn769Lys)
c.2166T>G (p.Asn722Lys)
c.608+252A>C
c.255+252A>C
n.380+252A>C
n.710T>G
c.2403T>G (p.Asn801Lys)
n.2626T>G
c.2172T>G (p.Asn724Lys)
n.3593T>G
n.2372T>G
5g.74721688A>GCA444849931GFM2,HEXBc.2307T>C (p.Asn769=)
c.2166T>C (p.Asn722=)
c.608+252A>G
c.255+252A>G
n.380+252A>G
n.710T>C
c.2403T>C (p.Asn801=)
n.2626T>C
c.2172T>C (p.Asn724=)
n.3593T>C
n.2372T>C
5g.74721688A>TCA360072417GFM2,HEXBc.2307T>A (p.Asn769Lys)
c.2166T>A (p.Asn722Lys)
c.608+252A>T
c.255+252A>T
n.380+252A>T
n.710T>A
c.2403T>A (p.Asn801Lys)
n.2626T>A
c.2172T>A (p.Asn724Lys)
n.3593T>A
n.2372T>A
5g.74721689T>ACA120908733GFM2,HEXBc.2306A>T (p.Asn769Ile)
c.2165A>T (p.Asn722Ile)
c.608+253T>A
c.255+253T>A
n.380+253T>A
n.709A>T
c.2402A>T (p.Asn801Ile)
n.2625A>T
c.2171A>T (p.Asn724Ile)
n.3592A>T
n.2371A>T
 dbSNP gnomAD v4
5g.74721689T>CCA360072423GFM2,HEXBc.2306A>G (p.Asn769Ser)
c.2165A>G (p.Asn722Ser)
c.608+253T>C
c.255+253T>C
n.380+253T>C
n.709A>G
c.2402A>G (p.Asn801Ser)
n.2625A>G
c.2171A>G (p.Asn724Ser)
n.3592A>G
n.2371A>G
5g.74721689T>GCA360072421GFM2,HEXBc.2306A>C (p.Asn769Thr)
c.2165A>C (p.Asn722Thr)
c.608+253T>G
c.255+253T>G
n.380+253T>G
n.709A>C
c.2402A>C (p.Asn801Thr)
n.2625A>C
c.2171A>C (p.Asn724Thr)
n.3592A>C
n.2371A>C
5g.74721689T=CA1555784326GFM2,HEXBc.2306A= (p.Asn769=)
c.2165A= (p.Asn722=)
c.608+253T=
c.255+253T=
n.380+253T=
n.709A=
c.2402A= (p.Asn801=)
n.2625A=
c.2171A= (p.Asn724=)
n.3592A=
n.2371A=
5g.74721690T>ACA360072428GFM2,HEXBc.2305A>T (p.Asn769Tyr)
c.2164A>T (p.Asn722Tyr)
c.608+254T>A
c.255+254T>A
n.380+254T>A
n.708A>T
c.2401A>T (p.Asn801Tyr)
n.2624A>T
c.2170A>T (p.Asn724Tyr)
n.3591A>T
n.2370A>T
5g.74721690T>CCA3306299GFM2,HEXBc.2305A>G (p.Asn769Asp)
c.2164A>G (p.Asn722Asp)
c.608+254T>C
c.255+254T>C
n.380+254T>C
n.708A>G
c.2401A>G (p.Asn801Asp)
n.2624A>G
c.2170A>G (p.Asn724Asp)
n.3591A>G
n.2370A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721690T>GCA360072429GFM2,HEXBc.2305A>C (p.Asn769His)
c.2164A>C (p.Asn722His)
c.608+254T>G
c.255+254T>G
n.380+254T>G
n.708A>C
c.2401A>C (p.Asn801His)
n.2624A>C
c.2170A>C (p.Asn724His)
n.3591A>C
n.2370A>C
5g.74721690T=CA1555784327GFM2,HEXBc.2305A= (p.Asn769=)
c.2164A= (p.Asn722=)
c.608+254T=
c.255+254T=
n.380+254T=
n.708A=
c.2401A= (p.Asn801=)
n.2624A=
c.2170A= (p.Asn724=)
n.3591A=
n.2370A=
5g.74721691T>ACA360072430GFM2,HEXBc.2304A>T (p.Gln768His)
c.2163A>T (p.Gln721His)
c.608+255T>A
c.255+255T>A
n.380+255T>A
n.707A>T
c.2400A>T (p.Gln800His)
n.2623A>T
c.2169A>T (p.Gln723His)
n.3590A>T
n.2369A>T
5g.74721691T>CCA444849947GFM2,HEXBc.2304A>G (p.Gln768=)
c.2163A>G (p.Gln721=)
c.608+255T>C
c.255+255T>C
n.380+255T>C
n.707A>G
c.2400A>G (p.Gln800=)
n.2623A>G
c.2169A>G (p.Gln723=)
n.3590A>G
n.2369A>G
5g.74721691T>GCA360072431GFM2,HEXBc.2304A>C (p.Gln768His)
c.2163A>C (p.Gln721His)
c.608+255T>G
c.255+255T>G
n.380+255T>G
n.707A>C
c.2400A>C (p.Gln800His)
n.2623A>C
c.2169A>C (p.Gln723His)
n.3590A>C
n.2369A>C
5g.74721692_74721730dupCA3306300GFM2,HEXBc.2266_2304dup (p.Gln768_Asn769insGluLeuSerThrTyrGlnAlaMetAsnProGlnAspGln)
c.2125_2163dup (p.Gln721_Asn722insGluLeuSerThrTyrGlnAlaMetAsnProGlnAspGln)
c.608+256_608+294dup
c.255+256_255+294dup
n.380+256_380+294dup
n.669_707dup
c.2362_2400dup (p.Gln800_Asn801insGluLeuSerThrTyrGlnAlaMetAsnProGlnAspGln)
n.2585_2623dup
c.2131_2169dup (p.Gln723_Asn724insGluLeuSerThrTyrGlnAlaMetAsnProGlnAspGln)
n.3552_3590dup
n.2331_2369dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74721692T>ACA360072437GFM2,HEXBc.2303A>T (p.Gln768Leu)
c.2162A>T (p.Gln721Leu)
c.608+256T>A
c.255+256T>A
n.380+256T>A
n.706A>T
c.2399A>T (p.Gln800Leu)
n.2622A>T
c.2168A>T (p.Gln723Leu)
n.3589A>T
n.2368A>T
5g.74721692T>CCA360072440GFM2,HEXBc.2303A>G (p.Gln768Arg)
c.2162A>G (p.Gln721Arg)
c.608+256T>C
c.255+256T>C
n.380+256T>C
n.706A>G
c.2399A>G (p.Gln800Arg)
n.2622A>G
c.2168A>G (p.Gln723Arg)
n.3589A>G
n.2368A>G
5g.74721692T>GCA360072442GFM2,HEXBc.2303A>C (p.Gln768Pro)
c.2162A>C (p.Gln721Pro)
c.608+256T>G
c.255+256T>G
n.380+256T>G
n.706A>C
c.2399A>C (p.Gln800Pro)
n.2622A>C
c.2168A>C (p.Gln723Pro)
n.3589A>C
n.2368A>C
5g.74721692_74721701dupCA2674242258GFM2,HEXBc.2294_2303dup (p.Gln768HisfsTer29)
c.2153_2162dup (p.Gln721HisfsTer29)
c.608+256_608+265dup
c.255+256_255+265dup
n.380+256_380+265dup
n.697_706dup
c.2390_2399dup (p.Gln800HisfsTer29)
n.2613_2622dup
c.2159_2168dup (p.Gln723HisfsTer29)
n.3580_3589dup
n.2359_2368dup
 gnomAD v4
5g.74721693G>ACA360072447GFM2,HEXBc.2302C>T (p.Gln768Ter)
c.2161C>T (p.Gln721Ter)
c.608+257G>A
c.255+257G>A
n.380+257G>A
n.705C>T
c.2398C>T (p.Gln800Ter)
n.2621C>T
c.2167C>T (p.Gln723Ter)
n.3588C>T
n.2367C>T
 gnomAD v4
5g.74721693G>CCA360072451GFM2,HEXBc.2302C>G (p.Gln768Glu)
c.2161C>G (p.Gln721Glu)
c.608+257G>C
c.255+257G>C
n.380+257G>C
n.705C>G
c.2398C>G (p.Gln800Glu)
n.2621C>G
c.2167C>G (p.Gln723Glu)
n.3588C>G
n.2367C>G
 gnomAD v4
5g.74721693G>TCA360072455GFM2,HEXBc.2302C>A (p.Gln768Lys)
c.2161C>A (p.Gln721Lys)
c.608+257G>T
c.255+257G>T
n.380+257G>T
n.705C>A
c.2398C>A (p.Gln800Lys)
n.2621C>A
c.2167C>A (p.Gln723Lys)
n.3588C>A
n.2367C>A
 gnomAD v4
5g.74721694A>CCA360072461GFM2,HEXBc.2301T>G (p.Asp767Glu)
c.2160T>G (p.Asp720Glu)
c.608+258A>C
c.255+258A>C
n.380+258A>C
n.704T>G
c.2397T>G (p.Asp799Glu)
n.2620T>G
c.2166T>G (p.Asp722Glu)
n.3587T>G
n.2366T>G
5g.74721694A>GCA444849959GFM2,HEXBc.2301T>C (p.Asp767=)
c.2160T>C (p.Asp720=)
c.608+258A>G
c.255+258A>G
n.380+258A>G
n.704T>C
c.2397T>C (p.Asp799=)
n.2620T>C
c.2166T>C (p.Asp722=)
n.3587T>C
n.2366T>C
 gnomAD v4
5g.74721694A>TCA360072458GFM2,HEXBc.2301T>A (p.Asp767Glu)
c.2160T>A (p.Asp720Glu)
c.608+258A>T
c.255+258A>T
n.380+258A>T
n.704T>A
c.2397T>A (p.Asp799Glu)
n.2620T>A
c.2166T>A (p.Asp722Glu)
n.3587T>A
n.2366T>A
5g.74721694_74721718dupCA2674242261GFM2,HEXBc.2277_2301dup (p.Gln768LeufsTer34)
c.2136_2160dup (p.Gln721LeufsTer34)
c.608+258_608+282dup
c.255+258_255+282dup
n.380+258_380+282dup
n.680_704dup
c.2373_2397dup (p.Gln800LeufsTer34)
n.2596_2620dup
c.2142_2166dup (p.Gln723LeufsTer34)
n.3563_3587dup
n.2342_2366dup
 gnomAD v4
5g.74721695T>ACA360072466GFM2,HEXBc.2300A>T (p.Asp767Val)
c.2159A>T (p.Asp720Val)
c.608+259T>A
c.255+259T>A
n.380+259T>A
n.703A>T
c.2396A>T (p.Asp799Val)
n.2619A>T
c.2165A>T (p.Asp722Val)
n.3586A>T
n.2365A>T
 dbSNP
5g.74721695T>CCA360072470GFM2,HEXBc.2300A>G (p.Asp767Gly)
c.2159A>G (p.Asp720Gly)
c.608+259T>C
c.255+259T>C
n.380+259T>C
n.703A>G
c.2396A>G (p.Asp799Gly)
n.2619A>G
c.2165A>G (p.Asp722Gly)
n.3586A>G
n.2365A>G
5g.74721695T>GCA360072474GFM2,HEXBc.2300A>C (p.Asp767Ala)
c.2159A>C (p.Asp720Ala)
c.608+259T>G
c.255+259T>G
n.380+259T>G
n.703A>C
c.2396A>C (p.Asp799Ala)
n.2619A>C
c.2165A>C (p.Asp722Ala)
n.3586A>C
n.2365A>C
5g.74721695T=CA1555784328GFM2,HEXBc.2300A= (p.Asp767=)
c.2159A= (p.Asp720=)
c.608+259T=
c.255+259T=
n.380+259T=
n.703A=
c.2396A= (p.Asp799=)
n.2619A=
c.2165A= (p.Asp722=)
n.3586A=
n.2365A=
5g.74721696C>ACA360072482GFM2,HEXBc.2299G>T (p.Asp767Tyr)
c.2158G>T (p.Asp720Tyr)
c.608+260C>A
c.255+260C>A
n.380+260C>A
n.702G>T
c.2395G>T (p.Asp799Tyr)
n.2618G>T
c.2164G>T (p.Asp722Tyr)
n.3585G>T
n.2364G>T
5g.74721696C>GCA360072485GFM2,HEXBc.2299G>C (p.Asp767His)
c.2158G>C (p.Asp720His)
c.608+260C>G
c.255+260C>G
n.380+260C>G
n.702G>C
c.2395G>C (p.Asp799His)
n.2618G>C
c.2164G>C (p.Asp722His)
n.3585G>C
n.2364G>C
5g.74721696C>TCA360072488GFM2,HEXBc.2299G>A (p.Asp767Asn)
c.2158G>A (p.Asp720Asn)
c.608+260C>T
c.255+260C>T
n.380+260C>T
n.702G>A
c.2395G>A (p.Asp799Asn)
n.2618G>A
c.2164G>A (p.Asp722Asn)
n.3585G>A
n.2364G>A
5g.74721697T>ACA360072497GFM2,HEXBc.2298A>T (p.Gln766His)
c.2157A>T (p.Gln719His)
c.608+261T>A
c.255+261T>A
n.380+261T>A
n.701A>T
c.2394A>T (p.Gln798His)
n.2617A>T
c.2163A>T (p.Gln721His)
n.3584A>T
n.2363A>T
5g.74721697T>CCA120908740GFM2,HEXBc.2298A>G (p.Gln766=)
c.2157A>G (p.Gln719=)
c.608+261T>C
c.255+261T>C
n.380+261T>C
n.701A>G
c.2394A>G (p.Gln798=)
n.2617A>G
c.2163A>G (p.Gln721=)
n.3584A>G
n.2363A>G
 dbSNP
5g.74721697T>GCA360072493GFM2,HEXBc.2298A>C (p.Gln766His)
c.2157A>C (p.Gln719His)
c.608+261T>G
c.255+261T>G
n.380+261T>G
n.701A>C
c.2394A>C (p.Gln798His)
n.2617A>C
c.2163A>C (p.Gln721His)
n.3584A>C
n.2363A>C
5g.74721697T=CA1555784329GFM2,HEXBc.2298A= (p.Gln766=)
c.2157A= (p.Gln719=)
c.608+261T=
c.255+261T=
n.380+261T=
n.701A=
c.2394A= (p.Gln798=)
n.2617A=
c.2163A= (p.Gln721=)
n.3584A=
n.2363A=
5g.74721697_74721698insACA1555784330GFM2,HEXBc.2297_2298insT (p.Gln766HisfsTer28)
c.2156_2157insT (p.Gln719HisfsTer28)
c.608+261_608+262insA
c.255+261_255+262insA
n.380+261_380+262insA
n.700_701insT
c.2393_2394insT (p.Gln798HisfsTer28)
n.2616_2617insT
c.2162_2163insT (p.Gln721HisfsTer28)
n.3583_3584insT
n.2362_2363insT
 dbSNP gnomAD v4
5g.74721698T>ACA360072500GFM2,HEXBc.2297A>T (p.Gln766Leu)
c.2156A>T (p.Gln719Leu)
c.608+262T>A
c.255+262T>A
n.380+262T>A
n.700A>T
c.2393A>T (p.Gln798Leu)
n.2616A>T
c.2162A>T (p.Gln721Leu)
n.3583A>T
n.2362A>T
5g.74721698T>CCA3306301GFM2,HEXBc.2297A>G (p.Gln766Arg)
c.2156A>G (p.Gln719Arg)
c.608+262T>C
c.255+262T>C
n.380+262T>C
n.700A>G
c.2393A>G (p.Gln798Arg)
n.2616A>G
c.2162A>G (p.Gln721Arg)
n.3583A>G
n.2362A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721698T>GCA360072505GFM2,HEXBc.2297A>C (p.Gln766Pro)
c.2156A>C (p.Gln719Pro)
c.608+262T>G
c.255+262T>G
n.380+262T>G
n.700A>C
c.2393A>C (p.Gln798Pro)
n.2616A>C
c.2162A>C (p.Gln721Pro)
n.3583A>C
n.2362A>C
 gnomAD v4
5g.74721698T=CA1555784331GFM2,HEXBc.2297A= (p.Gln766=)
c.2156A= (p.Gln719=)
c.608+262T=
c.255+262T=
n.380+262T=
n.700A=
c.2393A= (p.Gln798=)
n.2616A=
c.2162A= (p.Gln721=)
n.3583A=
n.2362A=
5g.74721699G>ACA360072510GFM2,HEXBc.2296C>T (p.Gln766Ter)
c.2155C>T (p.Gln719Ter)
c.608+263G>A
c.255+263G>A
n.380+263G>A
n.699C>T
c.2392C>T (p.Gln798Ter)
n.2615C>T
c.2161C>T (p.Gln721Ter)
n.3582C>T
n.2361C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.74721699G>CCA360072516GFM2,HEXBc.2296C>G (p.Gln766Glu)
c.2155C>G (p.Gln719Glu)
c.608+263G>C
c.255+263G>C
n.380+263G>C
n.699C>G
c.2392C>G (p.Gln798Glu)
n.2615C>G
c.2161C>G (p.Gln721Glu)
n.3582C>G
n.2361C>G
5g.74721699G=CA1555784332GFM2,HEXBc.2296C= (p.Gln766=)
c.2155C= (p.Gln719=)
c.608+263G=
c.255+263G=
n.380+263G=
n.699C=
c.2392C= (p.Gln798=)
n.2615C=
c.2161C= (p.Gln721=)
n.3582C=
n.2361C=
5g.74721699G>TCA360072518GFM2,HEXBc.2296C>A (p.Gln766Lys)
c.2155C>A (p.Gln719Lys)
c.608+263G>T
c.255+263G>T
n.380+263G>T
n.699C>A
c.2392C>A (p.Gln798Lys)
n.2615C>A
c.2161C>A (p.Gln721Lys)
n.3582C>A
n.2361C>A
5g.74721700A>CCA444849978GFM2,HEXBc.2295T>G (p.Pro765=)
c.2154T>G (p.Pro718=)
c.608+264A>C
c.255+264A>C
n.380+264A>C
n.698T>G
c.2391T>G (p.Pro797=)
n.2614T>G
c.2160T>G (p.Pro720=)
n.3581T>G
n.2360T>G
5g.74721700A>GCA444849981GFM2,HEXBc.2295T>C (p.Pro765=)
c.2154T>C (p.Pro718=)
c.608+264A>G
c.255+264A>G
n.380+264A>G
n.698T>C
c.2391T>C (p.Pro797=)
n.2614T>C
c.2160T>C (p.Pro720=)
n.3581T>C
n.2360T>C
5g.74721700A>TCA444849983GFM2,HEXBc.2295T>A (p.Pro765=)
c.2154T>A (p.Pro718=)
c.608+264A>T
c.255+264A>T
n.380+264A>T
n.698T>A
c.2391T>A (p.Pro797=)
n.2614T>A
c.2160T>A (p.Pro720=)
n.3581T>A
n.2360T>A
5g.74721701G>ACA360072521GFM2,HEXBc.2294C>T (p.Pro765Leu)
c.2153C>T (p.Pro718Leu)
c.608+265G>A
c.255+265G>A
n.380+265G>A
n.697C>T
c.2390C>T (p.Pro797Leu)
n.2613C>T
c.2159C>T (p.Pro720Leu)
n.3580C>T
n.2359C>T
5g.74721701G>CCA360072527GFM2,HEXBc.2294C>G (p.Pro765Arg)
c.2153C>G (p.Pro718Arg)
c.608+265G>C
c.255+265G>C
n.380+265G>C
n.697C>G
c.2390C>G (p.Pro797Arg)
n.2613C>G
c.2159C>G (p.Pro720Arg)
n.3580C>G
n.2359C>G
5g.74721701G>TCA360072523GFM2,HEXBc.2294C>A (p.Pro765His)
c.2153C>A (p.Pro718His)
c.608+265G>T
c.255+265G>T
n.380+265G>T
n.697C>A
c.2390C>A (p.Pro797His)
n.2613C>A
c.2159C>A (p.Pro720His)
n.3580C>A
n.2359C>A
5g.74721702G>ACA360072533GFM2,HEXBc.2293C>T (p.Pro765Ser)
c.2152C>T (p.Pro718Ser)
c.608+266G>A
c.255+266G>A
n.380+266G>A
n.696C>T
c.2389C>T (p.Pro797Ser)
n.2612C>T
c.2158C>T (p.Pro720Ser)
n.3579C>T
n.2358C>T
 dbSNP
5g.74721702G>CCA360072534GFM2,HEXBc.2293C>G (p.Pro765Ala)
c.2152C>G (p.Pro718Ala)
c.608+266G>C
c.255+266G>C
n.380+266G>C
n.696C>G
c.2389C>G (p.Pro797Ala)
n.2612C>G
c.2158C>G (p.Pro720Ala)
n.3579C>G
n.2358C>G
5g.74721702G=CA1555784333GFM2,HEXBc.2293C= (p.Pro765=)
c.2152C= (p.Pro718=)
c.608+266G=
c.255+266G=
n.380+266G=
n.696C=
c.2389C= (p.Pro797=)
n.2612C=
c.2158C= (p.Pro720=)
n.3579C=
n.2358C=
5g.74721702G>TCA360072538GFM2,HEXBc.2293C>A (p.Pro765Thr)
c.2152C>A (p.Pro718Thr)
c.608+266G>T
c.255+266G>T
n.380+266G>T
n.696C>A
c.2389C>A (p.Pro797Thr)
n.2612C>A
c.2158C>A (p.Pro720Thr)
n.3579C>A
n.2358C>A
5g.74721703A>CCA360072546GFM2,HEXBc.2292T>G (p.Asn764Lys)
c.2151T>G (p.Asn717Lys)
c.608+267A>C
c.255+267A>C
n.380+267A>C
n.695T>G
c.2388T>G (p.Asn796Lys)
n.2611T>G
c.2157T>G (p.Asn719Lys)
n.3578T>G
n.2357T>G
5g.74721703A>GCA444849992GFM2,HEXBc.2292T>C (p.Asn764=)
c.2151T>C (p.Asn717=)
c.608+267A>G
c.255+267A>G
n.380+267A>G
n.695T>C
c.2388T>C (p.Asn796=)
n.2611T>C
c.2157T>C (p.Asn719=)
n.3578T>C
n.2357T>C
5g.74721703A>TCA360072549GFM2,HEXBc.2292T>A (p.Asn764Lys)
c.2151T>A (p.Asn717Lys)
c.608+267A>T
c.255+267A>T
n.380+267A>T
n.695T>A
c.2388T>A (p.Asn796Lys)
n.2611T>A
c.2157T>A (p.Asn719Lys)
n.3578T>A
n.2357T>A
5g.74721704T>ACA360072551GFM2,HEXBc.2291A>T (p.Asn764Ile)
c.2150A>T (p.Asn717Ile)
c.608+268T>A
c.255+268T>A
n.380+268T>A
n.694A>T
c.2387A>T (p.Asn796Ile)
n.2610A>T
c.2156A>T (p.Asn719Ile)
n.3577A>T
n.2356A>T
5g.74721704T>CCA360072554GFM2,HEXBc.2291A>G (p.Asn764Ser)
c.2150A>G (p.Asn717Ser)
c.608+268T>C
c.255+268T>C
n.380+268T>C
n.694A>G
c.2387A>G (p.Asn796Ser)
n.2610A>G
c.2156A>G (p.Asn719Ser)
n.3577A>G
n.2356A>G
5g.74721704T>GCA120908744GFM2,HEXBc.2291A>C (p.Asn764Thr)
c.2150A>C (p.Asn717Thr)
c.608+268T>G
c.255+268T>G
n.380+268T>G
n.694A>C
c.2387A>C (p.Asn796Thr)
n.2610A>C
c.2156A>C (p.Asn719Thr)
n.3577A>C
n.2356A>C
 dbSNP gnomAD v4
5g.74721704T=CA1555784334GFM2,HEXBc.2291A= (p.Asn764=)
c.2150A= (p.Asn717=)
c.608+268T=
c.255+268T=
n.380+268T=
n.694A=
c.2387A= (p.Asn796=)
n.2610A=
c.2156A= (p.Asn719=)
n.3577A=
n.2356A=
5g.74721705T>ACA360072562GFM2,HEXBc.2290A>T (p.Asn764Tyr)
c.2149A>T (p.Asn717Tyr)
c.608+269T>A
c.255+269T>A
n.380+269T>A
n.693A>T
c.2386A>T (p.Asn796Tyr)
n.2609A>T
c.2155A>T (p.Asn719Tyr)
n.3576A>T
n.2355A>T
5g.74721705T>CCA360072566GFM2,HEXBc.2290A>G (p.Asn764Asp)
c.2149A>G (p.Asn717Asp)
c.608+269T>C
c.255+269T>C
n.380+269T>C
n.693A>G
c.2386A>G (p.Asn796Asp)
n.2609A>G
c.2155A>G (p.Asn719Asp)
n.3576A>G
n.2355A>G
5g.74721705T>GCA360072569GFM2,HEXBc.2290A>C (p.Asn764His)
c.2149A>C (p.Asn717His)
c.608+269T>G
c.255+269T>G
n.380+269T>G
n.693A>C
c.2386A>C (p.Asn796His)
n.2609A>C
c.2155A>C (p.Asn719His)
n.3576A>C
n.2355A>C
 dbSNP gnomAD v2 gnomAD v4
5g.74721705T=CA1555784335GFM2,HEXBc.2290A= (p.Asn764=)
c.2149A= (p.Asn717=)
c.608+269T=
c.255+269T=
n.380+269T=
n.693A=
c.2386A= (p.Asn796=)
n.2609A=
c.2155A= (p.Asn719=)
n.3576A=
n.2355A=
5g.74721706C>ACA360072580GFM2,HEXBc.2289G>T (p.Met763Ile)
c.2148G>T (p.Met716Ile)
c.608+270C>A
c.255+270C>A
n.380+270C>A
n.692G>T
c.2385G>T (p.Met795Ile)
n.2608G>T
c.2154G>T (p.Met718Ile)
n.3575G>T
n.2354G>T
5g.74721706C=CA1555784336GFM2,HEXBc.2289G= (p.Met763=)
c.2148G= (p.Met716=)
c.608+270C=
c.255+270C=
n.380+270C=
n.692G=
c.2385G= (p.Met795=)
n.2608G=
c.2154G= (p.Met718=)
n.3575G=
n.2354G=
5g.74721706C>GCA360072576GFM2,HEXBc.2289G>C (p.Met763Ile)
c.2148G>C (p.Met716Ile)
c.608+270C>G
c.255+270C>G
n.380+270C>G
n.692G>C
c.2385G>C (p.Met795Ile)
n.2608G>C
c.2154G>C (p.Met718Ile)
n.3575G>C
n.2354G>C
5g.74721706C>TCA3306302GFM2,HEXBc.2289G>A (p.Met763Ile)
c.2148G>A (p.Met716Ile)
c.608+270C>T
c.255+270C>T
n.380+270C>T
n.692G>A
c.2385G>A (p.Met795Ile)
n.2608G>A
c.2154G>A (p.Met718Ile)
n.3575G>A
n.2354G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721707A=CA1555784337GFM2,HEXBc.2288T= (p.Met763=)
c.2147T= (p.Met716=)
c.608+271A=
c.255+271A=
n.380+271A=
n.691T=
c.2384T= (p.Met795=)
n.2607T=
c.2153T= (p.Met718=)
n.3574T=
n.2353T=
5g.74721707A>CCA360072585GFM2,HEXBc.2288T>G (p.Met763Arg)
c.2147T>G (p.Met716Arg)
c.608+271A>C
c.255+271A>C
n.380+271A>C
n.691T>G
c.2384T>G (p.Met795Arg)
n.2607T>G
c.2153T>G (p.Met718Arg)
n.3574T>G
n.2353T>G
5g.74721707A>GCA360072592GFM2,HEXBc.2288T>C (p.Met763Thr)
c.2147T>C (p.Met716Thr)
c.608+271A>G
c.255+271A>G
n.380+271A>G
n.691T>C
c.2384T>C (p.Met795Thr)
n.2607T>C
c.2153T>C (p.Met718Thr)
n.3574T>C
n.2353T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.74721707A>TCA360072588GFM2,HEXBc.2288T>A (p.Met763Lys)
c.2147T>A (p.Met716Lys)
c.608+271A>T
c.255+271A>T
n.380+271A>T
n.691T>A
c.2384T>A (p.Met795Lys)
n.2607T>A
c.2153T>A (p.Met718Lys)
n.3574T>A
n.2353T>A
5g.74721708T>ACA360072594GFM2,HEXBc.2287A>T (p.Met763Leu)
c.2146A>T (p.Met716Leu)
c.608+272T>A
c.255+272T>A
n.380+272T>A
n.690A>T
c.2383A>T (p.Met795Leu)
n.2606A>T
c.2152A>T (p.Met718Leu)
n.3573A>T
n.2352A>T
5g.74721708T>CCA3306303GFM2,HEXBc.2287A>G (p.Met763Val)
c.2146A>G (p.Met716Val)
c.608+272T>C
c.255+272T>C
n.380+272T>C
n.690A>G
c.2383A>G (p.Met795Val)
n.2606A>G
c.2152A>G (p.Met718Val)
n.3573A>G
n.2352A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74721708T>GCA360072598GFM2,HEXBc.2287A>C (p.Met763Leu)
c.2146A>C (p.Met716Leu)
c.608+272T>G
c.255+272T>G
n.380+272T>G
n.690A>C
c.2383A>C (p.Met795Leu)
n.2606A>C
c.2152A>C (p.Met718Leu)
n.3573A>C
n.2352A>C
5g.74721708T=CA1555784338GFM2,HEXBc.2287A= (p.Met763=)
c.2146A= (p.Met716=)
c.608+272T=
c.255+272T=
n.380+272T=
n.690A=
c.2383A= (p.Met795=)
n.2606A=
c.2152A= (p.Met718=)
n.3573A=
n.2352A=
5g.74721709G>ACA444850020GFM2,HEXBc.2286C>T (p.Ala762=)
c.2145C>T (p.Ala715=)
c.608+273G>A
c.255+273G>A
n.380+273G>A
n.689C>T
c.2382C>T (p.Ala794=)
n.2605C>T
c.2151C>T (p.Ala717=)
n.3572C>T
n.2351C>T
5g.74721709G>CCA444850017GFM2,HEXBc.2286C>G (p.Ala762=)
c.2145C>G (p.Ala715=)
c.608+273G>C
c.255+273G>C
n.380+273G>C
n.689C>G
c.2382C>G (p.Ala794=)
n.2605C>G
c.2151C>G (p.Ala717=)
n.3572C>G
n.2351C>G
 dbSNP gnomAD v3 gnomAD v4
5g.74721709G=CA1555784339GFM2,HEXBc.2286C= (p.Ala762=)
c.2145C= (p.Ala715=)
c.608+273G=
c.255+273G=
n.380+273G=
n.689C=
c.2382C= (p.Ala794=)
n.2605C=
c.2151C= (p.Ala717=)
n.3572C=
n.2351C=
5g.74721709G>TCA444850013GFM2,HEXBc.2286C>A (p.Ala762=)
c.2145C>A (p.Ala715=)
c.608+273G>T
c.255+273G>T
n.380+273G>T
n.689C>A
c.2382C>A (p.Ala794=)
n.2605C>A
c.2151C>A (p.Ala717=)
n.3572C>A
n.2351C>A
5g.74721710G>ACA360072608GFM2,HEXBc.2285C>T (p.Ala762Val)
c.2144C>T (p.Ala715Val)
c.608+274G>A
c.255+274G>A
n.380+274G>A
n.688C>T
c.2381C>T (p.Ala794Val)
n.2604C>T
c.2150C>T (p.Ala717Val)
n.3571C>T
n.2350C>T
5g.74721710G>CCA360072614GFM2,HEXBc.2285C>G (p.Ala762Gly)
c.2144C>G (p.Ala715Gly)
c.608+274G>C
c.255+274G>C
n.380+274G>C
n.688C>G
c.2381C>G (p.Ala794Gly)
n.2604C>G
c.2150C>G (p.Ala717Gly)
n.3571C>G
n.2350C>G
5g.74721710G>TCA360072611GFM2,HEXBc.2285C>A (p.Ala762Asp)
c.2144C>A (p.Ala715Asp)
c.608+274G>T
c.255+274G>T
n.380+274G>T
n.688C>A
c.2381C>A (p.Ala794Asp)
n.2604C>A
c.2150C>A (p.Ala717Asp)
n.3571C>A
n.2350C>A
5g.74721711C>ACA360072618GFM2,HEXBc.2284G>T (p.Ala762Ser)
c.2143G>T (p.Ala715Ser)
c.608+275C>A
c.255+275C>A
n.380+275C>A
n.687G>T
c.2380G>T (p.Ala794Ser)
n.2603G>T
c.2149G>T (p.Ala717Ser)
n.3570G>T
n.2349G>T
5g.74721711C>GCA360072626GFM2,HEXBc.2284G>C (p.Ala762Pro)
c.2143G>C (p.Ala715Pro)
c.608+275C>G
c.255+275C>G
n.380+275C>G
n.687G>C
c.2380G>C (p.Ala794Pro)
n.2603G>C
c.2149G>C (p.Ala717Pro)
n.3570G>C
n.2349G>C
5g.74721711C>TCA360072622GFM2,HEXBc.2284G>A (p.Ala762Thr)
c.2143G>A (p.Ala715Thr)
c.608+275C>T
c.255+275C>T
n.380+275C>T
n.687G>A
c.2380G>A (p.Ala794Thr)
n.2603G>A
c.2149G>A (p.Ala717Thr)
n.3570G>A
n.2349G>A
5g.74721712T>ACA360072631GFM2,HEXBc.2283A>T (p.Gln761His)
c.2142A>T (p.Gln714His)
c.608+276T>A
c.255+276T>A
n.380+276T>A
n.686A>T
c.2379A>T (p.Gln793His)
n.2602A>T
c.2148A>T (p.Gln716His)
n.3569A>T
n.2348A>T
5g.74721712T>CCA444850136GFM2,HEXBc.2283A>G (p.Gln761=)
c.2142A>G (p.Gln714=)
c.608+276T>C
c.255+276T>C
n.380+276T>C
n.686A>G
c.2379A>G (p.Gln793=)
n.2602A>G
c.2148A>G (p.Gln716=)
n.3569A>G
n.2348A>G
 dbSNP gnomAD v2 gnomAD v4
5g.74721712T>GCA360072633GFM2,HEXBc.2283A>C (p.Gln761His)
c.2142A>C (p.Gln714His)
c.608+276T>G
c.255+276T>G
n.380+276T>G
n.686A>C
c.2379A>C (p.Gln793His)
n.2602A>C
c.2148A>C (p.Gln716His)
n.3569A>C
n.2348A>C
5g.74721712T=CA1555784340GFM2,HEXBc.2283A= (p.Gln761=)
c.2142A= (p.Gln714=)
c.608+276T=
c.255+276T=
n.380+276T=
n.686A=
c.2379A= (p.Gln793=)
n.2602A=
c.2148A= (p.Gln716=)
n.3569A=
n.2348A=
5g.74721713T>ACA360072640GFM2,HEXBc.2282A>T (p.Gln761Leu)
c.2141A>T (p.Gln714Leu)
c.608+277T>A
c.255+277T>A
n.380+277T>A
n.685A>T
c.2378A>T (p.Gln793Leu)
n.2601A>T
c.2147A>T (p.Gln716Leu)
n.3568A>T
n.2347A>T
5g.74721713T>CCA360072643GFM2,HEXBc.2282A>G (p.Gln761Arg)
c.2141A>G (p.Gln714Arg)
c.608+277T>C
c.255+277T>C
n.380+277T>C
n.685A>G
c.2378A>G (p.Gln793Arg)
n.2601A>G
c.2147A>G (p.Gln716Arg)
n.3568A>G
n.2347A>G
5g.74721713T>GCA360072645GFM2,HEXBc.2282A>C (p.Gln761Pro)
c.2141A>C (p.Gln714Pro)
c.608+277T>G
c.255+277T>G
n.380+277T>G
n.685A>C
c.2378A>C (p.Gln793Pro)
n.2601A>C
c.2147A>C (p.Gln716Pro)
n.3568A>C
n.2347A>C
5g.74721714G>ACA360072650GFM2,HEXBc.2281C>T (p.Gln761Ter)
c.2140C>T (p.Gln714Ter)
c.608+278G>A
c.255+278G>A
n.380+278G>A
n.684C>T
c.2377C>T (p.Gln793Ter)
n.2600C>T
c.2146C>T (p.Gln716Ter)
n.3567C>T
n.2346C>T
 gnomAD v4
5g.74721714G>CCA360072653GFM2,HEXBc.2281C>G (p.Gln761Glu)
c.2140C>G (p.Gln714Glu)
c.608+278G>C
c.255+278G>C
n.380+278G>C
n.684C>G
c.2377C>G (p.Gln793Glu)
n.2600C>G
c.2146C>G (p.Gln716Glu)
n.3567C>G
n.2346C>G
5g.74721714G=CA1555784341GFM2,HEXBc.2281C= (p.Gln761=)
c.2140C= (p.Gln714=)
c.608+278G=
c.255+278G=
n.380+278G=
n.684C=
c.2377C= (p.Gln793=)
n.2600C=
c.2146C= (p.Gln716=)
n.3567C=
n.2346C=
5g.74721714G>TCA360072658GFM2,HEXBc.2281C>A (p.Gln761Lys)
c.2140C>A (p.Gln714Lys)
c.608+278G>T
c.255+278G>T
n.380+278G>T
n.684C>A
c.2377C>A (p.Gln793Lys)
n.2600C>A
c.2146C>A (p.Gln716Lys)
n.3567C>A
n.2346C>A
 dbSNP gnomAD v2
5g.74721715A=CA1555784342GFM2,HEXBc.2280T= (p.Tyr760=)
c.2139T= (p.Tyr713=)
c.608+279A=
c.255+279A=
n.380+279A=
n.683T=
c.2376T= (p.Tyr792=)
n.2599T=
c.2145T= (p.Tyr715=)
n.3566T=
n.2345T=
5g.74721715A>CCA360072661GFM2,HEXBc.2280T>G (p.Tyr760Ter)
c.2139T>G (p.Tyr713Ter)
c.608+279A>C
c.255+279A>C
n.380+279A>C
n.683T>G
c.2376T>G (p.Tyr792Ter)
n.2599T>G
c.2145T>G (p.Tyr715Ter)
n.3566T>G
n.2345T>G
5g.74721715A>GCA444850142GFM2,HEXBc.2280T>C (p.Tyr760=)
c.2139T>C (p.Tyr713=)
c.608+279A>G
c.255+279A>G
n.380+279A>G
n.683T>C
c.2376T>C (p.Tyr792=)
n.2599T>C
c.2145T>C (p.Tyr715=)
n.3566T>C
n.2345T>C
 dbSNP gnomAD v4
5g.74721715A>TCA3306304GFM2,HEXBc.2280T>A (p.Tyr760Ter)
c.2139T>A (p.Tyr713Ter)
c.608+279A>T
c.255+279A>T
n.380+279A>T
n.683T>A
c.2376T>A (p.Tyr792Ter)
n.2599T>A
c.2145T>A (p.Tyr715Ter)
n.3566T>A
n.2345T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721716T>ACA3306305GFM2,HEXBc.2279A>T (p.Tyr760Phe)
c.2138A>T (p.Tyr713Phe)
c.608+280T>A
c.255+280T>A
n.380+280T>A
n.682A>T
c.2375A>T (p.Tyr792Phe)
n.2598A>T
c.2144A>T (p.Tyr715Phe)
n.3565A>T
n.2344A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721716T>CCA360072671GFM2,HEXBc.2279A>G (p.Tyr760Cys)
c.2138A>G (p.Tyr713Cys)
c.608+280T>C
c.255+280T>C
n.380+280T>C
n.682A>G
c.2375A>G (p.Tyr792Cys)
n.2598A>G
c.2144A>G (p.Tyr715Cys)
n.3565A>G
n.2344A>G
5g.74721716T>GCA360072673GFM2,HEXBc.2279A>C (p.Tyr760Ser)
c.2138A>C (p.Tyr713Ser)
c.608+280T>G
c.255+280T>G
n.380+280T>G
n.682A>C
c.2375A>C (p.Tyr792Ser)
n.2598A>C
c.2144A>C (p.Tyr715Ser)
n.3565A>C
n.2344A>C
5g.74721716T=CA1555784343GFM2,HEXBc.2279A= (p.Tyr760=)
c.2138A= (p.Tyr713=)
c.608+280T=
c.255+280T=
n.380+280T=
n.682A=
c.2375A= (p.Tyr792=)
n.2598A=
c.2144A= (p.Tyr715=)
n.3565A=
n.2344A=
5g.74721716_74721730dupCA560368307GFM2,HEXBc.2265_2279dup (p.Tyr760Ter)
c.2124_2138dup (p.Tyr713Ter)
c.608+280_608+294dup
c.255+280_255+294dup
n.380+280_380+294dup
n.668_682dup
c.2361_2375dup (p.Tyr792Ter)
n.2584_2598dup
c.2130_2144dup (p.Tyr715Ter)
n.3551_3565dup
n.2330_2344dup
 dbSNP gnomAD v2 gnomAD v4
5g.74721716_74721737delinsTAAGTAGATAGTTCTAAGGCAACA1555784344GFM2,HEXBc.2258_2279delinsTTGCCTTAGAACTATCTACTTA (p.Phe753=)
c.2117_2138delinsTTGCCTTAGAACTATCTACTTA (p.Phe706=)
c.608+280_608+301delinsTAAGTAGATAGTTCTAAGGCAA
c.255+280_255+301delinsTAAGTAGATAGTTCTAAGGCAA
n.380+280_380+301delinsTAAGTAGATAGTTCTAAGGCAA
n.661_682delinsTTGCCTTAGAACTATCTACTTA
c.2354_2375delinsTTGCCTTAGAACTATCTACTTA (p.Phe785=)
n.2577_2598delinsTTGCCTTAGAACTATCTACTTA
c.2123_2144delinsTTGCCTTAGAACTATCTACTTA (p.Phe708=)
n.3544_3565delinsTTGCCTTAGAACTATCTACTTA
n.2323_2344delinsTTGCCTTAGAACTATCTACTTA
5g.74721717A=CA1555784346GFM2,HEXBc.2278T= (p.Tyr760=)
c.2137T= (p.Tyr713=)
c.608+281A=
c.255+281A=
n.380+281A=
n.681T=
c.2374T= (p.Tyr792=)
n.2597T=
c.2143T= (p.Tyr715=)
n.3564T=
n.2343T=
5g.74721717A>CCA360072689GFM2,HEXBc.2278T>G (p.Tyr760Asp)
c.2137T>G (p.Tyr713Asp)
c.608+281A>C
c.255+281A>C
n.380+281A>C
n.681T>G
c.2374T>G (p.Tyr792Asp)
n.2597T>G
c.2143T>G (p.Tyr715Asp)
n.3564T>G
n.2343T>G
 dbSNP gnomAD v2 gnomAD v4
5g.74721717A>GCA360072679GFM2,HEXBc.2278T>C (p.Tyr760His)
c.2137T>C (p.Tyr713His)
c.608+281A>G
c.255+281A>G
n.380+281A>G
n.681T>C
c.2374T>C (p.Tyr792His)
n.2597T>C
c.2143T>C (p.Tyr715His)
n.3564T>C
n.2343T>C
5g.74721717A>TCA3306306GFM2,HEXBc.2278T>A (p.Tyr760Asn)
c.2137T>A (p.Tyr713Asn)
c.608+281A>T
c.255+281A>T
n.380+281A>T
n.681T>A
c.2374T>A (p.Tyr792Asn)
n.2597T>A
c.2143T>A (p.Tyr715Asn)
n.3564T>A
n.2343T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721723_74721743delCA1555784345GFM2,HEXBc.2258_2278del (p.Phe753_Thr759del)
c.2117_2137del (p.Phe706_Thr712del)
c.608+287_608+307del
c.255+287_255+307del
n.380+287_380+307del
n.661_681del
c.2354_2374del (p.Phe785_Thr791del)
n.2577_2597del
c.2123_2143del (p.Phe708_Thr714del)
n.3544_3564del
n.2323_2343del
 dbSNP
5g.74721718A>CCA444850149GFM2,HEXBc.2277T>G (p.Thr759=)
c.2136T>G (p.Thr712=)
c.608+282A>C
c.255+282A>C
n.380+282A>C
n.680T>G
c.2373T>G (p.Thr791=)
n.2596T>G
c.2142T>G (p.Thr714=)
n.3563T>G
n.2342T>G
5g.74721718A>GCA444850150GFM2,HEXBc.2277T>C (p.Thr759=)
c.2136T>C (p.Thr712=)
c.608+282A>G
c.255+282A>G
n.380+282A>G
n.680T>C
c.2373T>C (p.Thr791=)
n.2596T>C
c.2142T>C (p.Thr714=)
n.3563T>C
n.2342T>C
5g.74721718A>TCA444850152GFM2,HEXBc.2277T>A (p.Thr759=)
c.2136T>A (p.Thr712=)
c.608+282A>T
c.255+282A>T
n.380+282A>T
n.680T>A
c.2373T>A (p.Thr791=)
n.2596T>A
c.2142T>A (p.Thr714=)
n.3563T>A
n.2342T>A
5g.74721719G>ACA360072692GFM2,HEXBc.2276C>T (p.Thr759Ile)
c.2135C>T (p.Thr712Ile)
c.608+283G>A
c.255+283G>A
n.380+283G>A
n.679C>T
c.2372C>T (p.Thr791Ile)
n.2595C>T
c.2141C>T (p.Thr714Ile)
n.3562C>T
n.2341C>T
5g.74721719G>CCA360072695GFM2,HEXBc.2276C>G (p.Thr759Ser)
c.2135C>G (p.Thr712Ser)
c.608+283G>C
c.255+283G>C
n.380+283G>C
n.679C>G
c.2372C>G (p.Thr791Ser)
n.2595C>G
c.2141C>G (p.Thr714Ser)
n.3562C>G
n.2341C>G
5g.74721719G>TCA360072698GFM2,HEXBc.2276C>A (p.Thr759Asn)
c.2135C>A (p.Thr712Asn)
c.608+283G>T
c.255+283G>T
n.380+283G>T
n.679C>A
c.2372C>A (p.Thr791Asn)
n.2595C>A
c.2141C>A (p.Thr714Asn)
n.3562C>A
n.2341C>A
5g.74721720T>ACA360072702GFM2,HEXBc.2275A>T (p.Thr759Ser)
c.2134A>T (p.Thr712Ser)
c.608+284T>A
c.255+284T>A
n.380+284T>A
n.678A>T
c.2371A>T (p.Thr791Ser)
n.2594A>T
c.2140A>T (p.Thr714Ser)
n.3561A>T
n.2340A>T
5g.74721720T>CCA360072706GFM2,HEXBc.2275A>G (p.Thr759Ala)
c.2134A>G (p.Thr712Ala)
c.608+284T>C
c.255+284T>C
n.380+284T>C
n.678A>G
c.2371A>G (p.Thr791Ala)
n.2594A>G
c.2140A>G (p.Thr714Ala)
n.3561A>G
n.2340A>G
5g.74721720T>GCA360072709GFM2,HEXBc.2275A>C (p.Thr759Pro)
c.2134A>C (p.Thr712Pro)
c.608+284T>G
c.255+284T>G
n.380+284T>G
n.678A>C
c.2371A>C (p.Thr791Pro)
n.2594A>C
c.2140A>C (p.Thr714Pro)
n.3561A>C
n.2340A>C
5g.74721720_74721722delinsTAGCA1555784347GFM2,HEXBc.2273_2275delinsCTA (p.Ser758=)
c.2132_2134delinsCTA (p.Ser711=)
c.608+284_608+286delinsTAG
c.255+284_255+286delinsTAG
n.380+284_380+286delinsTAG
n.676_678delinsCTA
c.2369_2371delinsCTA (p.Ser790=)
n.2592_2594delinsCTA
c.2138_2140delinsCTA (p.Ser713=)
n.3559_3561delinsCTA
n.2338_2340delinsCTA
5g.74721721A>CCA444850158GFM2,HEXBc.2274T>G (p.Ser758=)
c.2133T>G (p.Ser711=)
c.608+285A>C
c.255+285A>C
n.380+285A>C
n.677T>G
c.2370T>G (p.Ser790=)
n.2593T>G
c.2139T>G (p.Ser713=)
n.3560T>G
n.2339T>G
5g.74721721A>GCA444850161GFM2,HEXBc.2274T>C (p.Ser758=)
c.2133T>C (p.Ser711=)
c.608+285A>G
c.255+285A>G
n.380+285A>G
n.677T>C
c.2370T>C (p.Ser790=)
n.2593T>C
c.2139T>C (p.Ser713=)
n.3560T>C
n.2339T>C
5g.74721721A>TCA444850162GFM2,HEXBc.2274T>A (p.Ser758=)
c.2133T>A (p.Ser711=)
c.608+285A>T
c.255+285A>T
n.380+285A>T
n.677T>A
c.2370T>A (p.Ser790=)
n.2593T>A
c.2139T>A (p.Ser713=)
n.3560T>A
n.2339T>A
5g.74721722_74721723delCA3306307GFM2,HEXBc.2273_2274del (p.Ser758TyrfsTer?)
c.2132_2133del (p.Ser711TyrfsTer?)
c.608+286_608+287del
c.255+286_255+287del
n.380+286_380+287del
n.676_677del
c.2369_2370del (p.Ser790TyrfsTer?)
n.2592_2593del
c.2138_2139del (p.Ser713TyrfsTer?)
n.3559_3560del
n.2338_2339del
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721722G>ACA360072717GFM2,HEXBc.2273C>T (p.Ser758Phe)
c.2132C>T (p.Ser711Phe)
c.608+286G>A
c.255+286G>A
n.380+286G>A
n.676C>T
c.2369C>T (p.Ser790Phe)
n.2592C>T
c.2138C>T (p.Ser713Phe)
n.3559C>T
n.2338C>T
5g.74721722G>CCA120908761GFM2,HEXBc.2273C>G (p.Ser758Cys)
c.2132C>G (p.Ser711Cys)
c.608+286G>C
c.255+286G>C
n.380+286G>C
n.676C>G
c.2369C>G (p.Ser790Cys)
n.2592C>G
c.2138C>G (p.Ser713Cys)
n.3559C>G
n.2338C>G
 dbSNP
5g.74721722G=CA1555784348GFM2,HEXBc.2273C= (p.Ser758=)
c.2132C= (p.Ser711=)
c.608+286G=
c.255+286G=
n.380+286G=
n.676C=
c.2369C= (p.Ser790=)
n.2592C=
c.2138C= (p.Ser713=)
n.3559C=
n.2338C=
5g.74721722G>TCA360072723GFM2,HEXBc.2273C>A (p.Ser758Tyr)
c.2132C>A (p.Ser711Tyr)
c.608+286G>T
c.255+286G>T
n.380+286G>T
n.676C>A
c.2369C>A (p.Ser790Tyr)
n.2592C>A
c.2138C>A (p.Ser713Tyr)
n.3559C>A
n.2338C>A
5g.74721723delCA2674242281GFM2,HEXBc.2272del (p.Ser758LeufsTer6)
c.2131del (p.Ser711LeufsTer6)
c.608+287del
c.255+287del
n.380+287del
n.675del
c.2368del (p.Ser790LeufsTer6)
n.2591del
c.2137del (p.Ser713LeufsTer6)
n.3558del
n.2337del
 gnomAD v4
5g.74721723A>CCA360072731GFM2,HEXBc.2272T>G (p.Ser758Ala)
c.2131T>G (p.Ser711Ala)
c.608+287A>C
c.255+287A>C
n.380+287A>C
n.675T>G
c.2368T>G (p.Ser790Ala)
n.2591T>G
c.2137T>G (p.Ser713Ala)
n.3558T>G
n.2337T>G
5g.74721723A>GCA360072735GFM2,HEXBc.2272T>C (p.Ser758Pro)
c.2131T>C (p.Ser711Pro)
c.608+287A>G
c.255+287A>G
n.380+287A>G
n.675T>C
c.2368T>C (p.Ser790Pro)
n.2591T>C
c.2137T>C (p.Ser713Pro)
n.3558T>C
n.2337T>C
 dbSNP
5g.74721723A>TCA360072728GFM2,HEXBc.2272T>A (p.Ser758Thr)
c.2131T>A (p.Ser711Thr)
c.608+287A>T
c.255+287A>T
n.380+287A>T
n.675T>A
c.2368T>A (p.Ser790Thr)
n.2591T>A
c.2137T>A (p.Ser713Thr)
n.3558T>A
n.2337T>A
5g.74721724T>ACA444850170GFM2,HEXBc.2271A>T (p.Leu757=)
c.2130A>T (p.Leu710=)
c.608+288T>A
c.255+288T>A
n.380+288T>A
n.674A>T
c.2367A>T (p.Leu789=)
n.2590A>T
c.2136A>T (p.Leu712=)
n.3557A>T
n.2336A>T
5g.74721724T>CCA444850172GFM2,HEXBc.2271A>G (p.Leu757=)
c.2130A>G (p.Leu710=)
c.608+288T>C
c.255+288T>C
n.380+288T>C
n.674A>G
c.2367A>G (p.Leu789=)
n.2590A>G
c.2136A>G (p.Leu712=)
n.3557A>G
n.2336A>G
 dbSNP gnomAD v4
5g.74721724T>GCA444850175GFM2,HEXBc.2271A>C (p.Leu757=)
c.2130A>C (p.Leu710=)
c.608+288T>G
c.255+288T>G
n.380+288T>G
n.674A>C
c.2367A>C (p.Leu789=)
n.2590A>C
c.2136A>C (p.Leu712=)
n.3557A>C
n.2336A>C
5g.74721724T=CA1555784349GFM2,HEXBc.2271A= (p.Leu757=)
c.2130A= (p.Leu710=)
c.608+288T=
c.255+288T=
n.380+288T=
n.674A=
c.2367A= (p.Leu789=)
n.2590A=
c.2136A= (p.Leu712=)
n.3557A=
n.2336A=
5g.74721725A=CA1555784350GFM2,HEXBc.2270T= (p.Leu757=)
c.2129T= (p.Leu710=)
c.608+289A=
c.255+289A=
n.380+289A=
n.673T=
c.2366T= (p.Leu789=)
n.2589T=
c.2135T= (p.Leu712=)
n.3556T=
n.2335T=
5g.74721725A>CCA360072740GFM2,HEXBc.2270T>G (p.Leu757Arg)
c.2129T>G (p.Leu710Arg)
c.608+289A>C
c.255+289A>C
n.380+289A>C
n.673T>G
c.2366T>G (p.Leu789Arg)
n.2589T>G
c.2135T>G (p.Leu712Arg)
n.3556T>G
n.2335T>G
5g.74721725A>GCA360072744GFM2,HEXBc.2270T>C (p.Leu757Pro)
c.2129T>C (p.Leu710Pro)
c.608+289A>G
c.255+289A>G
n.380+289A>G
n.673T>C
c.2366T>C (p.Leu789Pro)
n.2589T>C
c.2135T>C (p.Leu712Pro)
n.3556T>C
n.2335T>C
 dbSNP gnomAD v2
5g.74721725A>TCA360072746GFM2,HEXBc.2270T>A (p.Leu757Gln)
c.2129T>A (p.Leu710Gln)
c.608+289A>T
c.255+289A>T
n.380+289A>T
n.673T>A
c.2366T>A (p.Leu789Gln)
n.2589T>A
c.2135T>A (p.Leu712Gln)
n.3556T>A
n.2335T>A
5g.74721726G>ACA444850176GFM2,HEXBc.2269C>T (p.Leu757=)
c.2128C>T (p.Leu710=)
c.608+290G>A
c.255+290G>A
n.380+290G>A
n.672C>T
c.2365C>T (p.Leu789=)
n.2588C>T
c.2134C>T (p.Leu712=)
n.3555C>T
n.2334C>T
 dbSNP gnomAD v4
5g.74721726G>CCA360072752GFM2,HEXBc.2269C>G (p.Leu757Val)
c.2128C>G (p.Leu710Val)
c.608+290G>C
c.255+290G>C
n.380+290G>C
n.672C>G
c.2365C>G (p.Leu789Val)
n.2588C>G
c.2134C>G (p.Leu712Val)
n.3555C>G
n.2334C>G
5g.74721726G=CA1555784351GFM2,HEXBc.2269C= (p.Leu757=)
c.2128C= (p.Leu710=)
c.608+290G=
c.255+290G=
n.380+290G=
n.672C=
c.2365C= (p.Leu789=)
n.2588C=
c.2134C= (p.Leu712=)
n.3555C=
n.2334C=
5g.74721726G>TCA360072755GFM2,HEXBc.2269C>A (p.Leu757Ile)
c.2128C>A (p.Leu710Ile)
c.608+290G>T
c.255+290G>T
n.380+290G>T
n.672C>A
c.2365C>A (p.Leu789Ile)
n.2588C>A
c.2134C>A (p.Leu712Ile)
n.3555C>A
n.2334C>A
5g.74721726_74721742delinsGTTCTAAGGCAAAAGTACA1555784352GFM2,HEXBc.2253_2269delinsTACTTTTGCCTTAGAAC (p.Ala751=)
c.2112_2128delinsTACTTTTGCCTTAGAAC (p.Ala704=)
c.608+290_608+306delinsGTTCTAAGGCAAAAGTA
c.255+290_255+306delinsGTTCTAAGGCAAAAGTA
n.380+290_380+306delinsGTTCTAAGGCAAAAGTA
n.656_672delinsTACTTTTGCCTTAGAAC
c.2349_2365delinsTACTTTTGCCTTAGAAC (p.Ala783=)
n.2572_2588delinsTACTTTTGCCTTAGAAC
c.2118_2134delinsTACTTTTGCCTTAGAAC (p.Ala706=)
n.3539_3555delinsTACTTTTGCCTTAGAAC
n.2318_2334delinsTACTTTTGCCTTAGAAC
5g.74721727T>ACA360072760GFM2,HEXBc.2268A>T (p.Glu756Asp)
c.2127A>T (p.Glu709Asp)
c.608+291T>A
c.255+291T>A
n.380+291T>A
n.671A>T
c.2364A>T (p.Glu788Asp)
n.2587A>T
c.2133A>T (p.Glu711Asp)
n.3554A>T
n.2333A>T
 gnomAD v4
5g.74721727T>CCA444850177GFM2,HEXBc.2268A>G (p.Glu756=)
c.2127A>G (p.Glu709=)
c.608+291T>C
c.255+291T>C
n.380+291T>C
n.671A>G
c.2364A>G (p.Glu788=)
n.2587A>G
c.2133A>G (p.Glu711=)
n.3554A>G
n.2333A>G
5g.74721727T>GCA360072757GFM2,HEXBc.2268A>C (p.Glu756Asp)
c.2127A>C (p.Glu709Asp)
c.608+291T>G
c.255+291T>G
n.380+291T>G
n.671A>C
c.2364A>C (p.Glu788Asp)
n.2587A>C
c.2133A>C (p.Glu711Asp)
n.3554A>C
n.2333A>C
5g.74721727_74721728delCA2510345988GFM2,HEXBc.2267_2268del (p.Glu756AlafsTer?)
c.2126_2127del (p.Glu709AlafsTer?)
c.608+291_608+292del
c.255+291_255+292del
n.380+291_380+292del
n.670_671del
c.2363_2364del (p.Glu788AlafsTer?)
n.2586_2587del
c.2132_2133del (p.Glu711AlafsTer?)
n.3553_3554del
n.2332_2333del
5g.74721727_74721742delCA1555784353GFM2,HEXBc.2253_2268del (p.Thr752TyrfsTer7)
c.2112_2127del (p.Thr705TyrfsTer7)
c.608+291_608+306del
c.255+291_255+306del
n.380+291_380+306del
n.656_671del
c.2349_2364del (p.Thr784TyrfsTer7)
n.2572_2587del
c.2118_2133del (p.Thr707TyrfsTer7)
n.3539_3554del
n.2318_2333del
 dbSNP
5g.74721728T>ACA360072773GFM2,HEXBc.2267A>T (p.Glu756Val)
c.2126A>T (p.Glu709Val)
c.608+292T>A
c.255+292T>A
n.380+292T>A
n.670A>T
c.2363A>T (p.Glu788Val)
n.2586A>T
c.2132A>T (p.Glu711Val)
n.3553A>T
n.2332A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.74721728T>CCA360072777GFM2,HEXBc.2267A>G (p.Glu756Gly)
c.2126A>G (p.Glu709Gly)
c.608+292T>C
c.255+292T>C
n.380+292T>C
n.670A>G
c.2363A>G (p.Glu788Gly)
n.2586A>G
c.2132A>G (p.Glu711Gly)
n.3553A>G
n.2332A>G
 gnomAD v4
5g.74721728T>GCA360072781GFM2,HEXBc.2267A>C (p.Glu756Ala)
c.2126A>C (p.Glu709Ala)
c.608+292T>G
c.255+292T>G
n.380+292T>G
n.670A>C
c.2363A>C (p.Glu788Ala)
n.2586A>C
c.2132A>C (p.Glu711Ala)
n.3553A>C
n.2332A>C
5g.74721728T=CA1555784354GFM2,HEXBc.2267A= (p.Glu756=)
c.2126A= (p.Glu709=)
c.608+292T=
c.255+292T=
n.380+292T=
n.670A=
c.2363A= (p.Glu788=)
n.2586A=
c.2132A= (p.Glu711=)
n.3553A=
n.2332A=
5g.74721729C>ACA360072802GFM2,HEXBc.2266G>T (p.Glu756Ter)
c.2125G>T (p.Glu709Ter)
c.608+293C>A
c.255+293C>A
n.380+293C>A
n.669G>T
c.2362G>T (p.Glu788Ter)
n.2585G>T
c.2131G>T (p.Glu711Ter)
n.3552G>T
n.2331G>T
5g.74721729C=CA1555784355GFM2,HEXBc.2266G= (p.Glu756=)
c.2125G= (p.Glu709=)
c.608+293C=
c.255+293C=
n.380+293C=
n.669G=
c.2362G= (p.Glu788=)
n.2585G=
c.2131G= (p.Glu711=)
n.3552G=
n.2331G=
5g.74721729C>GCA360072805GFM2,HEXBc.2266G>C (p.Glu756Gln)
c.2125G>C (p.Glu709Gln)
c.608+293C>G
c.255+293C>G
n.380+293C>G
n.669G>C
c.2362G>C (p.Glu788Gln)
n.2585G>C
c.2131G>C (p.Glu711Gln)
n.3552G>C
n.2331G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.74721729C>TCA360072811GFM2,HEXBc.2266G>A (p.Glu756Lys)
c.2125G>A (p.Glu709Lys)
c.608+293C>T
c.255+293C>T
n.380+293C>T
n.669G>A
c.2362G>A (p.Glu788Lys)
n.2585G>A
c.2131G>A (p.Glu711Lys)
n.3552G>A
n.2331G>A
5g.74721729_74721730insATTTTCAGTAAGAACAATTTTTATTGCTTTATTTACA1555784357GFM2,HEXBc.2265_2266insTAAATAAAGCAATAAAAATTGTTCTTACTGAAAAT (p.Glu756Ter)
c.2124_2125insTAAATAAAGCAATAAAAATTGTTCTTACTGAAAAT (p.Glu709Ter)
c.608+293_608+294insATTTTCAGTAAGAACAATTTTTATTGCTTTATTTA
c.255+293_255+294insATTTTCAGTAAGAACAATTTTTATTGCTTTATTTA
n.380+293_380+294insATTTTCAGTAAGAACAATTTTTATTGCTTTATTTA
n.668_669insTAAATAAAGCAATAAAAATTGTTCTTACTGAAAAT
c.2361_2362insTAAATAAAGCAATAAAAATTGTTCTTACTGAAAAT (p.Glu788Ter)
n.2584_2585insTAAATAAAGCAATAAAAATTGTTCTTACTGAAAAT
c.2130_2131insTAAATAAAGCAATAAAAATTGTTCTTACTGAAAAT (p.Glu711Ter)
n.3551_3552insTAAATAAAGCAATAAAAATTGTTCTTACTGAAAAT
n.2330_2331insTAAATAAAGCAATAAAAATTGTTCTTACTGAAAAT
 dbSNP
5g.74721730T>ACA360072817GFM2,HEXBc.2265A>T (p.Leu755Phe)
c.2124A>T (p.Leu708Phe)
c.608+294T>A
c.255+294T>A
n.380+294T>A
n.668A>T
c.2361A>T (p.Leu787Phe)
n.2584A>T
c.2130A>T (p.Leu710Phe)
n.3551A>T
n.2330A>T
 gnomAD v4
5g.74721730T>CCA3306308GFM2,HEXBc.2265A>G (p.Leu755=)
c.2124A>G (p.Leu708=)
c.608+294T>C
c.255+294T>C
n.380+294T>C
n.668A>G
c.2361A>G (p.Leu787=)
n.2584A>G
c.2130A>G (p.Leu710=)
n.3551A>G
n.2330A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721730T>GCA360072821GFM2,HEXBc.2265A>C (p.Leu755Phe)
c.2124A>C (p.Leu708Phe)
c.608+294T>G
c.255+294T>G
n.380+294T>G
n.668A>C
c.2361A>C (p.Leu787Phe)
n.2584A>C
c.2130A>C (p.Leu710Phe)
n.3551A>C
n.2330A>C
 gnomAD v4
5g.74721730T=CA1555784356GFM2,HEXBc.2265A= (p.Leu755=)
c.2124A= (p.Leu708=)
c.608+294T=
c.255+294T=
n.380+294T=
n.668A=
c.2361A= (p.Leu787=)
n.2584A=
c.2130A= (p.Leu710=)
n.3551A=
n.2330A=
5g.74721731A>CCA360072844GFM2,HEXBc.2264T>G (p.Leu755Ter)
c.2123T>G (p.Leu708Ter)
c.608+295A>C
c.255+295A>C
n.380+295A>C
n.667T>G
c.2360T>G (p.Leu787Ter)
n.2583T>G
c.2129T>G (p.Leu710Ter)
n.3550T>G
n.2329T>G
5g.74721731A>GCA360072850GFM2,HEXBc.2264T>C (p.Leu755Ser)
c.2123T>C (p.Leu708Ser)
c.608+295A>G
c.255+295A>G
n.380+295A>G
n.667T>C
c.2360T>C (p.Leu787Ser)
n.2583T>C
c.2129T>C (p.Leu710Ser)
n.3550T>C
n.2329T>C
5g.74721731A>TCA360072858GFM2,HEXBc.2264T>A (p.Leu755Ter)
c.2123T>A (p.Leu708Ter)
c.608+295A>T
c.255+295A>T
n.380+295A>T
n.667T>A
c.2360T>A (p.Leu787Ter)
n.2583T>A
c.2129T>A (p.Leu710Ter)
n.3550T>A
n.2329T>A
5g.74721731_74721739dupCA2674242291GFM2,HEXBc.2256_2264dup (p.Ala754_Leu755insPhePheAla)
c.2115_2123dup (p.Ala707_Leu708insPhePheAla)
c.608+295_608+303dup
c.255+295_255+303dup
n.380+295_380+303dup
n.659_667dup
c.2352_2360dup (p.Ala786_Leu787insPhePheAla)
n.2575_2583dup
c.2121_2129dup (p.Ala709_Leu710insPhePheAla)
n.3542_3550dup
n.2321_2329dup
 gnomAD v4
5g.74721732A>CCA360072860GFM2,HEXBc.2263T>G (p.Leu755Val)
c.2122T>G (p.Leu708Val)
c.608+296A>C
c.255+296A>C
n.380+296A>C
n.666T>G
c.2359T>G (p.Leu787Val)
n.2582T>G
c.2128T>G (p.Leu710Val)
n.3549T>G
n.2328T>G
5g.74721732A>GCA444850184GFM2,HEXBc.2263T>C (p.Leu755=)
c.2122T>C (p.Leu708=)
c.608+296A>G
c.255+296A>G
n.380+296A>G
n.666T>C
c.2359T>C (p.Leu787=)
n.2582T>C
c.2128T>C (p.Leu710=)
n.3549T>C
n.2328T>C
5g.74721732A>TCA360072863GFM2,HEXBc.2263T>A (p.Leu755Ile)
c.2122T>A (p.Leu708Ile)
c.608+296A>T
c.255+296A>T
n.380+296A>T
n.666T>A
c.2359T>A (p.Leu787Ile)
n.2582T>A
c.2128T>A (p.Leu710Ile)
n.3549T>A
n.2328T>A
 gnomAD v4
5g.74721733G>ACA3306309GFM2,HEXBc.2262C>T (p.Ala754=)
c.2121C>T (p.Ala707=)
c.608+297G>A
c.255+297G>A
n.380+297G>A
n.665C>T
c.2358C>T (p.Ala786=)
n.2581C>T
c.2127C>T (p.Ala709=)
n.3548C>T
n.2327C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721733G>CCA444850186GFM2,HEXBc.2262C>G (p.Ala754=)
c.2121C>G (p.Ala707=)
c.608+297G>C
c.255+297G>C
n.380+297G>C
n.665C>G
c.2358C>G (p.Ala786=)
n.2581C>G
c.2127C>G (p.Ala709=)
n.3548C>G
n.2327C>G
5g.74721733G=CA1555784358GFM2,HEXBc.2262C= (p.Ala754=)
c.2121C= (p.Ala707=)
c.608+297G=
c.255+297G=
n.380+297G=
n.665C=
c.2358C= (p.Ala786=)
n.2581C=
c.2127C= (p.Ala709=)
n.3548C=
n.2327C=
5g.74721733G>TCA444850188GFM2,HEXBc.2262C>A (p.Ala754=)
c.2121C>A (p.Ala707=)
c.608+297G>T
c.255+297G>T
n.380+297G>T
n.665C>A
c.2358C>A (p.Ala786=)
n.2581C>A
c.2127C>A (p.Ala709=)
n.3548C>A
n.2327C>A
5g.74721734G>ACA360072879GFM2,HEXBc.2261C>T (p.Ala754Val)
c.2120C>T (p.Ala707Val)
c.608+298G>A
c.255+298G>A
n.380+298G>A
n.664C>T
c.2357C>T (p.Ala786Val)
n.2580C>T
c.2126C>T (p.Ala709Val)
n.3547C>T
n.2326C>T
5g.74721734G>CCA360072881GFM2,HEXBc.2261C>G (p.Ala754Gly)
c.2120C>G (p.Ala707Gly)
c.608+298G>C
c.255+298G>C
n.380+298G>C
n.664C>G
c.2357C>G (p.Ala786Gly)
n.2580C>G
c.2126C>G (p.Ala709Gly)
n.3547C>G
n.2326C>G
5g.74721734G=CA1555784359GFM2,HEXBc.2261C= (p.Ala754=)
c.2120C= (p.Ala707=)
c.608+298G=
c.255+298G=
n.380+298G=
n.664C=
c.2357C= (p.Ala786=)
n.2580C=
c.2126C= (p.Ala709=)
n.3547C=
n.2326C=
5g.74721734G>TCA360072884GFM2,HEXBc.2261C>A (p.Ala754Asp)
c.2120C>A (p.Ala707Asp)
c.608+298G>T
c.255+298G>T
n.380+298G>T
n.664C>A
c.2357C>A (p.Ala786Asp)
n.2580C>A
c.2126C>A (p.Ala709Asp)
n.3547C>A
n.2326C>A
 dbSNP
5g.74721735C>ACA360072888GFM2,HEXBc.2260G>T (p.Ala754Ser)
c.2119G>T (p.Ala707Ser)
c.608+299C>A
c.255+299C>A
n.380+299C>A
n.663G>T
c.2356G>T (p.Ala786Ser)
n.2579G>T
c.2125G>T (p.Ala709Ser)
n.3546G>T
n.2325G>T
5g.74721735C>GCA360072890GFM2,HEXBc.2260G>C (p.Ala754Pro)
c.2119G>C (p.Ala707Pro)
c.608+299C>G
c.255+299C>G
n.380+299C>G
n.663G>C
c.2356G>C (p.Ala786Pro)
n.2579G>C
c.2125G>C (p.Ala709Pro)
n.3546G>C
n.2325G>C
5g.74721735C>TCA360072891GFM2,HEXBc.2260G>A (p.Ala754Thr)
c.2119G>A (p.Ala707Thr)
c.608+299C>T
c.255+299C>T
n.380+299C>T
n.663G>A
c.2356G>A (p.Ala786Thr)
n.2579G>A
c.2125G>A (p.Ala709Thr)
n.3546G>A
n.2325G>A
5g.74721736A>CCA360072893GFM2,HEXBc.2259T>G (p.Phe753Leu)
c.2118T>G (p.Phe706Leu)
c.608+300A>C
c.255+300A>C
n.380+300A>C
n.662T>G
c.2355T>G (p.Phe785Leu)
n.2578T>G
c.2124T>G (p.Phe708Leu)
n.3545T>G
n.2324T>G
5g.74721736A>GCA444850198GFM2,HEXBc.2259T>C (p.Phe753=)
c.2118T>C (p.Phe706=)
c.608+300A>G
c.255+300A>G
n.380+300A>G
n.662T>C
c.2355T>C (p.Phe785=)
n.2578T>C
c.2124T>C (p.Phe708=)
n.3545T>C
n.2324T>C
 gnomAD v4
5g.74721736A>TCA360072892GFM2,HEXBc.2259T>A (p.Phe753Leu)
c.2118T>A (p.Phe706Leu)
c.608+300A>T
c.255+300A>T
n.380+300A>T
n.662T>A
c.2355T>A (p.Phe785Leu)
n.2578T>A
c.2124T>A (p.Phe708Leu)
n.3545T>A
n.2324T>A
5g.74721739dupCA2674242294GFM2,HEXBc.2259dup (p.Ala754CysfsTer?)
c.2118dup (p.Ala707CysfsTer?)
c.608+303dup
c.255+303dup
n.380+303dup
n.662dup
c.2355dup (p.Ala786CysfsTer?)
n.2578dup
c.2124dup (p.Ala709CysfsTer?)
n.3545dup
n.2324dup
 gnomAD v4
5g.74721739delCA2674242296GFM2,HEXBc.2259del (p.Phe753LeufsTer3)
c.2118del (p.Phe706LeufsTer3)
c.608+303del
c.255+303del
n.380+303del
n.662del
c.2355del (p.Phe785LeufsTer3)
n.2578del
c.2124del (p.Phe708LeufsTer3)
n.3545del
n.2324del
 gnomAD v4
5g.74721737A>CCA360072895GFM2,HEXBc.2258T>G (p.Phe753Cys)
c.2117T>G (p.Phe706Cys)
c.608+301A>C
c.255+301A>C
n.380+301A>C
n.661T>G
c.2354T>G (p.Phe785Cys)
n.2577T>G
c.2123T>G (p.Phe708Cys)
n.3544T>G
n.2323T>G
5g.74721737A>GCA360072898GFM2,HEXBc.2258T>C (p.Phe753Ser)
c.2117T>C (p.Phe706Ser)
c.608+301A>G
c.255+301A>G
n.380+301A>G
n.661T>C
c.2354T>C (p.Phe785Ser)
n.2577T>C
c.2123T>C (p.Phe708Ser)
n.3544T>C
n.2323T>C
5g.74721737A>TCA360072896GFM2,HEXBc.2258T>A (p.Phe753Tyr)
c.2117T>A (p.Phe706Tyr)
c.608+301A>T
c.255+301A>T
n.380+301A>T
n.661T>A
c.2354T>A (p.Phe785Tyr)
n.2577T>A
c.2123T>A (p.Phe708Tyr)
n.3544T>A
n.2323T>A
5g.74721738A>CCA360072902GFM2,HEXBc.2257T>G (p.Phe753Val)
c.2116T>G (p.Phe706Val)
c.608+302A>C
c.255+302A>C
n.380+302A>C
n.660T>G
c.2353T>G (p.Phe785Val)
n.2576T>G
c.2122T>G (p.Phe708Val)
n.3543T>G
n.2322T>G
5g.74721738A>GCA360072903GFM2,HEXBc.2257T>C (p.Phe753Leu)
c.2116T>C (p.Phe706Leu)
c.608+302A>G
c.255+302A>G
n.380+302A>G
n.660T>C
c.2353T>C (p.Phe785Leu)
n.2576T>C
c.2122T>C (p.Phe708Leu)
n.3543T>C
n.2322T>C
5g.74721738A>TCA360072906GFM2,HEXBc.2257T>A (p.Phe753Ile)
c.2116T>A (p.Phe706Ile)
c.608+302A>T
c.255+302A>T
n.380+302A>T
n.660T>A
c.2353T>A (p.Phe785Ile)
n.2576T>A
c.2122T>A (p.Phe708Ile)
n.3543T>A
n.2322T>A
5g.74721738_74721739insCACACCCAACACCA2767029879GFM2,HEXBc.2256_2257insGTGTTGGGTGTG (p.Thr752_Phe753insValLeuGlyVal)
c.2115_2116insGTGTTGGGTGTG (p.Thr705_Phe706insValLeuGlyVal)
c.608+302_608+303insCACACCCAACAC
c.255+302_255+303insCACACCCAACAC
n.380+302_380+303insCACACCCAACAC
n.659_660insGTGTTGGGTGTG
c.2352_2353insGTGTTGGGTGTG (p.Thr784_Phe785insValLeuGlyVal)
n.2575_2576insGTGTTGGGTGTG
c.2121_2122insGTGTTGGGTGTG (p.Thr707_Phe708insValLeuGlyVal)
n.3542_3543insGTGTTGGGTGTG
n.2321_2322insGTGTTGGGTGTG
5g.74721738_74721739insCACACCCAACACACCCAACACCA2767029880GFM2,HEXBc.2256_2257insGTGTTGGGTGTGTTGGGTGTG (p.Thr752_Phe753insValLeuGlyValLeuGlyVal)
c.2115_2116insGTGTTGGGTGTGTTGGGTGTG (p.Thr705_Phe706insValLeuGlyValLeuGlyVal)
c.608+302_608+303insCACACCCAACACACCCAACAC
c.255+302_255+303insCACACCCAACACACCCAACAC
n.380+302_380+303insCACACCCAACACACCCAACAC
n.659_660insGTGTTGGGTGTGTTGGGTGTG
c.2352_2353insGTGTTGGGTGTGTTGGGTGTG (p.Thr784_Phe785insValLeuGlyValLeuGlyVal)
n.2575_2576insGTGTTGGGTGTGTTGGGTGTG
c.2121_2122insGTGTTGGGTGTGTTGGGTGTG (p.Thr707_Phe708insValLeuGlyValLeuGlyVal)
n.3542_3543insGTGTTGGGTGTGTTGGGTGTG
n.2321_2322insGTGTTGGGTGTGTTGGGTGTG
5g.74721739A>CCA444850204GFM2,HEXBc.2256T>G (p.Thr752=)
c.2115T>G (p.Thr705=)
c.608+303A>C
c.255+303A>C
n.380+303A>C
n.659T>G
c.2352T>G (p.Thr784=)
n.2575T>G
c.2121T>G (p.Thr707=)
n.3542T>G
n.2321T>G
5g.74721739A>GCA444850205GFM2,HEXBc.2256T>C (p.Thr752=)
c.2115T>C (p.Thr705=)
c.608+303A>G
c.255+303A>G
n.380+303A>G
n.659T>C
c.2352T>C (p.Thr784=)
n.2575T>C
c.2121T>C (p.Thr707=)
n.3542T>C
n.2321T>C
5g.74721739A>TCA444850207GFM2,HEXBc.2256T>A (p.Thr752=)
c.2115T>A (p.Thr705=)
c.608+303A>T
c.255+303A>T
n.380+303A>T
n.659T>A
c.2352T>A (p.Thr784=)
n.2575T>A
c.2121T>A (p.Thr707=)
n.3542T>A
n.2321T>A
5g.74721740G>ACA360072909GFM2,HEXBc.2255C>T (p.Thr752Ile)
c.2114C>T (p.Thr705Ile)
c.608+304G>A
c.255+304G>A
n.380+304G>A
n.658C>T
c.2351C>T (p.Thr784Ile)
n.2574C>T
c.2120C>T (p.Thr707Ile)
n.3541C>T
n.2320C>T
 dbSNP
5g.74721740G>CCA360072912GFM2,HEXBc.2255C>G (p.Thr752Ser)
c.2114C>G (p.Thr705Ser)
c.608+304G>C
c.255+304G>C
n.380+304G>C
n.658C>G
c.2351C>G (p.Thr784Ser)
n.2574C>G
c.2120C>G (p.Thr707Ser)
n.3541C>G
n.2320C>G
5g.74721740G=CA1555784360GFM2,HEXBc.2255C= (p.Thr752=)
c.2114C= (p.Thr705=)
c.608+304G=
c.255+304G=
n.380+304G=
n.658C=
c.2351C= (p.Thr784=)
n.2574C=
c.2120C= (p.Thr707=)
n.3541C=
n.2320C=
5g.74721740G>TCA360072914GFM2,HEXBc.2255C>A (p.Thr752Asn)
c.2114C>A (p.Thr705Asn)
c.608+304G>T
c.255+304G>T
n.380+304G>T
n.658C>A
c.2351C>A (p.Thr784Asn)
n.2574C>A
c.2120C>A (p.Thr707Asn)
n.3541C>A
n.2320C>A
5g.74721741T>ACA360072919GFM2,HEXBc.2254A>T (p.Thr752Ser)
c.2113A>T (p.Thr705Ser)
c.608+305T>A
c.255+305T>A
n.380+305T>A
n.657A>T
c.2350A>T (p.Thr784Ser)
n.2573A>T
c.2119A>T (p.Thr707Ser)
n.3540A>T
n.2319A>T
5g.74721741T>CCA360072921GFM2,HEXBc.2254A>G (p.Thr752Ala)
c.2113A>G (p.Thr705Ala)
c.608+305T>C
c.255+305T>C
n.380+305T>C
n.657A>G
c.2350A>G (p.Thr784Ala)
n.2573A>G
c.2119A>G (p.Thr707Ala)
n.3540A>G
n.2319A>G
 gnomAD v4
5g.74721741T>GCA360072922GFM2,HEXBc.2254A>C (p.Thr752Pro)
c.2113A>C (p.Thr705Pro)
c.608+305T>G
c.255+305T>G
n.380+305T>G
n.657A>C
c.2350A>C (p.Thr784Pro)
n.2573A>C
c.2119A>C (p.Thr707Pro)
n.3540A>C
n.2319A>C
5g.74721742A>CCA444850214GFM2,HEXBc.2253T>G (p.Ala751=)
c.2112T>G (p.Ala704=)
c.608+306A>C
c.255+306A>C
n.380+306A>C
n.656T>G
c.2349T>G (p.Ala783=)
n.2572T>G
c.2118T>G (p.Ala706=)
n.3539T>G
n.2318T>G
5g.74721742A>GCA444850215GFM2,HEXBc.2253T>C (p.Ala751=)
c.2112T>C (p.Ala704=)
c.608+306A>G
c.255+306A>G
n.380+306A>G
n.656T>C
c.2349T>C (p.Ala783=)
n.2572T>C
c.2118T>C (p.Ala706=)
n.3539T>C
n.2318T>C
5g.74721742A>TCA444850217GFM2,HEXBc.2253T>A (p.Ala751=)
c.2112T>A (p.Ala704=)
c.608+306A>T
c.255+306A>T
n.380+306A>T
n.656T>A
c.2349T>A (p.Ala783=)
n.2572T>A
c.2118T>A (p.Ala706=)
n.3539T>A
n.2318T>A
5g.74721743G>ACA360072927GFM2,HEXBc.2252C>T (p.Ala751Val)
c.2111C>T (p.Ala704Val)
c.608+307G>A
c.255+307G>A
n.380+307G>A
n.655C>T
c.2348C>T (p.Ala783Val)
n.2571C>T
c.2117C>T (p.Ala706Val)
n.3538C>T
n.2317C>T
5g.74721743G>CCA360072930GFM2,HEXBc.2252C>G (p.Ala751Gly)
c.2111C>G (p.Ala704Gly)
c.608+307G>C
c.255+307G>C
n.380+307G>C
n.655C>G
c.2348C>G (p.Ala783Gly)
n.2571C>G
c.2117C>G (p.Ala706Gly)
n.3538C>G
n.2317C>G
5g.74721743G>TCA360072933GFM2,HEXBc.2252C>A (p.Ala751Asp)
c.2111C>A (p.Ala704Asp)
c.608+307G>T
c.255+307G>T
n.380+307G>T
n.655C>A
c.2348C>A (p.Ala783Asp)
n.2571C>A
c.2117C>A (p.Ala706Asp)
n.3538C>A
n.2317C>A
5g.74721744C>ACA360072937GFM2,HEXBc.2251G>T (p.Ala751Ser)
c.2110G>T (p.Ala704Ser)
c.608+308C>A
c.255+308C>A
n.380+308C>A
n.654G>T
c.2347G>T (p.Ala783Ser)
n.2570G>T
c.2116G>T (p.Ala706Ser)
n.3537G>T
n.2316G>T
 dbSNP gnomAD v2 gnomAD v4
5g.74721744C=CA1555784361GFM2,HEXBc.2251G= (p.Ala751=)
c.2110G= (p.Ala704=)
c.608+308C=
c.255+308C=
n.380+308C=
n.654G=
c.2347G= (p.Ala783=)
n.2570G=
c.2116G= (p.Ala706=)
n.3537G=
n.2316G=
5g.74721744C>GCA360072942GFM2,HEXBc.2251G>C (p.Ala751Pro)
c.2110G>C (p.Ala704Pro)
c.608+308C>G
c.255+308C>G
n.380+308C>G
n.654G>C
c.2347G>C (p.Ala783Pro)
n.2570G>C
c.2116G>C (p.Ala706Pro)
n.3537G>C
n.2316G>C
5g.74721744C>TCA360072940GFM2,HEXBc.2251G>A (p.Ala751Thr)
c.2110G>A (p.Ala704Thr)
c.608+308C>T
c.255+308C>T
n.380+308C>T
n.654G>A
c.2347G>A (p.Ala783Thr)
n.2570G>A
c.2116G>A (p.Ala706Thr)
n.3537G>A
n.2316G>A
5g.74721745T>ACA444850226GFM2,HEXBc.2250A>T (p.Ser750=)
c.2109A>T (p.Ser703=)
c.608+309T>A
c.255+309T>A
n.380+309T>A
n.653A>T
c.2346A>T (p.Ser782=)
n.2569A>T
c.2115A>T (p.Ser705=)
n.3536A>T
n.2315A>T
5g.74721745T>CCA444850227GFM2,HEXBc.2250A>G (p.Ser750=)
c.2109A>G (p.Ser703=)
c.608+309T>C
c.255+309T>C
n.380+309T>C
n.653A>G
c.2346A>G (p.Ser782=)
n.2569A>G
c.2115A>G (p.Ser705=)
n.3536A>G
n.2315A>G
 gnomAD v4
5g.74721745T>GCA444850224GFM2,HEXBc.2250A>C (p.Ser750=)
c.2109A>C (p.Ser703=)
c.608+309T>G
c.255+309T>G
n.380+309T>G
n.653A>C
c.2346A>C (p.Ser782=)
n.2569A>C
c.2115A>C (p.Ser705=)
n.3536A>C
n.2315A>C
5g.74721746G>ACA360072946GFM2,HEXBc.2249C>T (p.Ser750Leu)
c.2108C>T (p.Ser703Leu)
c.608+310G>A
c.255+310G>A
n.380+310G>A
n.652C>T
c.2345C>T (p.Ser782Leu)
n.2568C>T
c.2114C>T (p.Ser705Leu)
n.3535C>T
n.2314C>T
 dbSNP gnomAD v2 gnomAD v4
5g.74721746G>CCA360072948GFM2,HEXBc.2249C>G (p.Ser750Ter)
c.2108C>G (p.Ser703Ter)
c.608+310G>C
c.255+310G>C
n.380+310G>C
n.652C>G
c.2345C>G (p.Ser782Ter)
n.2568C>G
c.2114C>G (p.Ser705Ter)
n.3535C>G
n.2314C>G
5g.74721746G=CA1555784362GFM2,HEXBc.2249C= (p.Ser750=)
c.2108C= (p.Ser703=)
c.608+310G=
c.255+310G=
n.380+310G=
n.652C=
c.2345C= (p.Ser782=)
n.2568C=
c.2114C= (p.Ser705=)
n.3535C=
n.2314C=
5g.74721746G>TCA360072951GFM2,HEXBc.2249C>A (p.Ser750Ter)
c.2108C>A (p.Ser703Ter)
c.608+310G>T
c.255+310G>T
n.380+310G>T
n.652C>A
c.2345C>A (p.Ser782Ter)
n.2568C>A
c.2114C>A (p.Ser705Ter)
n.3535C>A
n.2314C>A
5g.74721746_74721747delinsGACA1555784363GFM2,HEXBc.2248_2249delinsTC (p.Ser750=)
c.2107_2108delinsTC (p.Ser703=)
c.608+310_608+311delinsGA
c.255+310_255+311delinsGA
n.380+310_380+311delinsGA
n.651_652delinsTC
c.2344_2345delinsTC (p.Ser782=)
n.2567_2568delinsTC
c.2113_2114delinsTC (p.Ser705=)
n.3534_3535delinsTC
n.2313_2314delinsTC
5g.74721747delCA560368308GFM2,HEXBc.2248del (p.Ser750GlnfsTer6)
c.2107del (p.Ser703GlnfsTer6)
c.608+311del
c.255+311del
n.380+311del
n.651del
c.2344del (p.Ser782GlnfsTer6)
n.2567del
c.2113del (p.Ser705GlnfsTer6)
n.3534del
n.2313del
 dbSNP gnomAD v2
5g.74721747A=CA1555784364GFM2,HEXBc.2248T= (p.Ser750=)
c.2107T= (p.Ser703=)
c.608+311A=
c.255+311A=
n.380+311A=
n.651T=
c.2344T= (p.Ser782=)
n.2567T=
c.2113T= (p.Ser705=)
n.3534T=
n.2313T=
5g.74721747A>CCA360072955GFM2,HEXBc.2248T>G (p.Ser750Ala)
c.2107T>G (p.Ser703Ala)
c.608+311A>C
c.255+311A>C
n.380+311A>C
n.651T>G
c.2344T>G (p.Ser782Ala)
n.2567T>G
c.2113T>G (p.Ser705Ala)
n.3534T>G
n.2313T>G
5g.74721747A>GCA360072957GFM2,HEXBc.2248T>C (p.Ser750Pro)
c.2107T>C (p.Ser703Pro)
c.608+311A>G
c.255+311A>G
n.380+311A>G
n.651T>C
c.2344T>C (p.Ser782Pro)
n.2567T>C
c.2113T>C (p.Ser705Pro)
n.3534T>C
n.2313T>C
5g.74721747A>TCA360072959GFM2,HEXBc.2248T>A (p.Ser750Thr)
c.2107T>A (p.Ser703Thr)
c.608+311A>T
c.255+311A>T
n.380+311A>T
n.651T>A
c.2344T>A (p.Ser782Thr)
n.2567T>A
c.2113T>A (p.Ser705Thr)
n.3534T>A
n.2313T>A
 gnomAD v4
5g.74721748G>ACA444850232GFM2,HEXBc.2247C>T (p.Gly749=)
c.2106C>T (p.Gly702=)
c.608+312G>A
c.255+312G>A
n.380+312G>A
n.650C>T
c.2343C>T (p.Gly781=)
n.2566C>T
c.2112C>T (p.Gly704=)
n.3533C>T
n.2312C>T
5g.74721748G>CCA444850233GFM2,HEXBc.2247C>G (p.Gly749=)
c.2106C>G (p.Gly702=)
c.608+312G>C
c.255+312G>C
n.380+312G>C
n.650C>G
c.2343C>G (p.Gly781=)
n.2566C>G
c.2112C>G (p.Gly704=)
n.3533C>G
n.2312C>G
5g.74721748G>TCA444850236GFM2,HEXBc.2247C>A (p.Gly749=)
c.2106C>A (p.Gly702=)
c.608+312G>T
c.255+312G>T
n.380+312G>T
n.650C>A
c.2343C>A (p.Gly781=)
n.2566C>A
c.2112C>A (p.Gly704=)
n.3533C>A
n.2312C>A
5g.74721748dupCA3306310GFM2,HEXBc.2247dup (p.Ser750LeufsTer?)
c.2106dup (p.Ser703LeufsTer?)
c.608+312dup
c.255+312dup
n.380+312dup
n.650dup
c.2343dup (p.Ser782LeufsTer?)
n.2566dup
c.2112dup (p.Ser705LeufsTer?)
n.3533dup
n.2312dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721749C>ACA360072964GFM2,HEXBc.2246G>T (p.Gly749Val)
c.2105G>T (p.Gly702Val)
c.608+313C>A
c.255+313C>A
n.380+313C>A
n.649G>T
c.2342G>T (p.Gly781Val)
n.2565G>T
c.2111G>T (p.Gly704Val)
n.3532G>T
n.2311G>T
 gnomAD v4
5g.74721749C=CA1555784365GFM2,HEXBc.2246G= (p.Gly749=)
c.2105G= (p.Gly702=)
c.608+313C=
c.255+313C=
n.380+313C=
n.649G=
c.2342G= (p.Gly781=)
n.2565G=
c.2111G= (p.Gly704=)
n.3532G=
n.2311G=
5g.74721749C>GCA360072967GFM2,HEXBc.2246G>C (p.Gly749Ala)
c.2105G>C (p.Gly702Ala)
c.608+313C>G
c.255+313C>G
n.380+313C>G
n.649G>C
c.2342G>C (p.Gly781Ala)
n.2565G>C
c.2111G>C (p.Gly704Ala)
n.3532G>C
n.2311G>C
5g.74721749C>TCA360072969GFM2,HEXBc.2246G>A (p.Gly749Asp)
c.2105G>A (p.Gly702Asp)
c.608+313C>T
c.255+313C>T
n.380+313C>T
n.649G>A
c.2342G>A (p.Gly781Asp)
n.2565G>A
c.2111G>A (p.Gly704Asp)
n.3532G>A
n.2311G>A
5g.74721749_74721750insTACTTTTGCCTTAGAACA1555784366GFM2,HEXBc.2245_2246insTTCTAAGGCAAAAGTA (p.Gly749ValfsTer6)
c.2104_2105insTTCTAAGGCAAAAGTA (p.Gly702ValfsTer6)
c.608+313_608+314insTACTTTTGCCTTAGAA
c.255+313_255+314insTACTTTTGCCTTAGAA
n.380+313_380+314insTACTTTTGCCTTAGAA
n.648_649insTTCTAAGGCAAAAGTA
c.2341_2342insTTCTAAGGCAAAAGTA (p.Gly781ValfsTer6)
n.2564_2565insTTCTAAGGCAAAAGTA
c.2110_2111insTTCTAAGGCAAAAGTA (p.Gly704ValfsTer6)
n.3531_3532insTTCTAAGGCAAAAGTA
n.2310_2311insTTCTAAGGCAAAAGTA
 dbSNP
5g.74721750C>ACA360072975GFM2,HEXBc.2245G>T (p.Gly749Cys)
c.2104G>T (p.Gly702Cys)
c.608+314C>A
c.255+314C>A
n.380+314C>A
n.648G>T
c.2341G>T (p.Gly781Cys)
n.2564G>T
c.2110G>T (p.Gly704Cys)
n.3531G>T
n.2310G>T
5g.74721750C>GCA360072978GFM2,HEXBc.2245G>C (p.Gly749Arg)
c.2104G>C (p.Gly702Arg)
c.608+314C>G
c.255+314C>G
n.380+314C>G
n.648G>C
c.2341G>C (p.Gly781Arg)
n.2564G>C
c.2110G>C (p.Gly704Arg)
n.3531G>C
n.2310G>C
5g.74721750C>TCA360072972GFM2,HEXBc.2245G>A (p.Gly749Ser)
c.2104G>A (p.Gly702Ser)
c.608+314C>T
c.255+314C>T
n.380+314C>T
n.648G>A
c.2341G>A (p.Gly781Ser)
n.2564G>A
c.2110G>A (p.Gly704Ser)
n.3531G>A
n.2310G>A
 gnomAD v4
5g.74721751T>ACA444850244GFM2,HEXBc.2244A>T (p.Ser748=)
c.2103A>T (p.Ser701=)
c.608+315T>A
c.255+315T>A
n.380+315T>A
n.647A>T
c.2340A>T (p.Ser780=)
n.2563A>T
c.2109A>T (p.Ser703=)
n.3530A>T
n.2309A>T
5g.74721751T>CCA444850246GFM2,HEXBc.2244A>G (p.Ser748=)
c.2103A>G (p.Ser701=)
c.608+315T>C
c.255+315T>C
n.380+315T>C
n.647A>G
c.2340A>G (p.Ser780=)
n.2563A>G
c.2109A>G (p.Ser703=)
n.3530A>G
n.2309A>G
 dbSNP
5g.74721751T>GCA444850249GFM2,HEXBc.2244A>C (p.Ser748=)
c.2103A>C (p.Ser701=)
c.608+315T>G
c.255+315T>G
n.380+315T>G
n.647A>C
c.2340A>C (p.Ser780=)
n.2563A>C
c.2109A>C (p.Ser703=)
n.3530A>C
n.2309A>C
5g.74721751T=CA1555784367GFM2,HEXBc.2244A= (p.Ser748=)
c.2103A= (p.Ser701=)
c.608+315T=
c.255+315T=
n.380+315T=
n.647A=
c.2340A= (p.Ser780=)
n.2563A=
c.2109A= (p.Ser703=)
n.3530A=
n.2309A=
5g.74721752G>ACA360072981GFM2,HEXBc.2243C>T (p.Ser748Leu)
c.2102C>T (p.Ser701Leu)
c.608+316G>A
c.255+316G>A
n.380+316G>A
n.646C>T
c.2339C>T (p.Ser780Leu)
n.2562C>T
c.2108C>T (p.Ser703Leu)
n.3529C>T
n.2308C>T
5g.74721752G>CCA360072983GFM2,HEXBc.2243C>G (p.Ser748Ter)
c.2102C>G (p.Ser701Ter)
c.608+316G>C
c.255+316G>C
n.380+316G>C
n.646C>G
c.2339C>G (p.Ser780Ter)
n.2562C>G
c.2108C>G (p.Ser703Ter)
n.3529C>G
n.2308C>G
5g.74721752G>TCA360072986GFM2,HEXBc.2243C>A (p.Ser748Ter)
c.2102C>A (p.Ser701Ter)
c.608+316G>T
c.255+316G>T
n.380+316G>T
n.646C>A
c.2339C>A (p.Ser780Ter)
n.2562C>A
c.2108C>A (p.Ser703Ter)
n.3529C>A
n.2308C>A
5g.74721753A>CCA360072990GFM2,HEXBc.2242T>G (p.Ser748Ala)
c.2101T>G (p.Ser701Ala)
c.608+317A>C
c.255+317A>C
n.380+317A>C
n.645T>G
c.2338T>G (p.Ser780Ala)
n.2561T>G
c.2107T>G (p.Ser703Ala)
n.3528T>G
n.2307T>G
5g.74721753A>GCA360072992GFM2,HEXBc.2242T>C (p.Ser748Pro)
c.2101T>C (p.Ser701Pro)
c.608+317A>G
c.255+317A>G
n.380+317A>G
n.645T>C
c.2338T>C (p.Ser780Pro)
n.2561T>C
c.2107T>C (p.Ser703Pro)
n.3528T>C
n.2307T>C
5g.74721753A>TCA360072995GFM2,HEXBc.2242T>A (p.Ser748Thr)
c.2101T>A (p.Ser701Thr)
c.608+317A>T
c.255+317A>T
n.380+317A>T
n.645T>A
c.2338T>A (p.Ser780Thr)
n.2561T>A
c.2107T>A (p.Ser703Thr)
n.3528T>A
n.2307T>A
5g.74721754T>ACA444850257GFM2,HEXBc.2241A>T (p.Thr747=)
c.2100A>T (p.Thr700=)
c.608+318T>A
c.255+318T>A
n.380+318T>A
n.644A>T
c.2337A>T (p.Thr779=)
n.2560A>T
c.2106A>T (p.Thr702=)
n.3527A>T
n.2306A>T
5g.74721754T>CCA444850259GFM2,HEXBc.2241A>G (p.Thr747=)
c.2100A>G (p.Thr700=)
c.608+318T>C
c.255+318T>C
n.380+318T>C
n.644A>G
c.2337A>G (p.Thr779=)
n.2560A>G
c.2106A>G (p.Thr702=)
n.3527A>G
n.2306A>G
 dbSNP gnomAD v3 gnomAD v4
5g.74721754T>GCA444850262GFM2,HEXBc.2241A>C (p.Thr747=)
c.2100A>C (p.Thr700=)
c.608+318T>G
c.255+318T>G
n.380+318T>G
n.644A>C
c.2337A>C (p.Thr779=)
n.2560A>C
c.2106A>C (p.Thr702=)
n.3527A>C
n.2306A>C
5g.74721754T=CA1555784368GFM2,HEXBc.2241A= (p.Thr747=)
c.2100A= (p.Thr700=)
c.608+318T=
c.255+318T=
n.380+318T=
n.644A=
c.2337A= (p.Thr779=)
n.2560A=
c.2106A= (p.Thr702=)
n.3527A=
n.2306A=
5g.74721755G>ACA360073000GFM2,HEXBc.2240C>T (p.Thr747Ile)
c.2099C>T (p.Thr700Ile)
c.608+319G>A
c.255+319G>A
n.380+319G>A
n.643C>T
c.2336C>T (p.Thr779Ile)
n.2559C>T
c.2105C>T (p.Thr702Ile)
n.3526C>T
n.2305C>T
 dbSNP
5g.74721755G>CCA360073002GFM2,HEXBc.2240C>G (p.Thr747Arg)
c.2099C>G (p.Thr700Arg)
c.608+319G>C
c.255+319G>C
n.380+319G>C
n.643C>G
c.2336C>G (p.Thr779Arg)
n.2559C>G
c.2105C>G (p.Thr702Arg)
n.3526C>G
n.2305C>G
5g.74721755G=CA1555784369GFM2,HEXBc.2240C= (p.Thr747=)
c.2099C= (p.Thr700=)
c.608+319G=
c.255+319G=
n.380+319G=
n.643C=
c.2336C= (p.Thr779=)
n.2559C=
c.2105C= (p.Thr702=)
n.3526C=
n.2305C=
5g.74721755G>TCA360073005GFM2,HEXBc.2240C>A (p.Thr747Lys)
c.2099C>A (p.Thr700Lys)
c.608+319G>T
c.255+319G>T
n.380+319G>T
n.643C>A
c.2336C>A (p.Thr779Lys)
n.2559C>A
c.2105C>A (p.Thr702Lys)
n.3526C>A
n.2305C>A
5g.74721756T>ACA360073009GFM2,HEXBc.2239A>T (p.Thr747Ser)
c.2098A>T (p.Thr700Ser)
c.608+320T>A
c.255+320T>A
n.380+320T>A
n.642A>T
c.2335A>T (p.Thr779Ser)
n.2558A>T
c.2104A>T (p.Thr702Ser)
n.3525A>T
n.2304A>T
 dbSNP gnomAD v4
5g.74721756T>CCA360073011GFM2,HEXBc.2239A>G (p.Thr747Ala)
c.2098A>G (p.Thr700Ala)
c.608+320T>C
c.255+320T>C
n.380+320T>C
n.642A>G
c.2335A>G (p.Thr779Ala)
n.2558A>G
c.2104A>G (p.Thr702Ala)
n.3525A>G
n.2304A>G
5g.74721756T>GCA360073013GFM2,HEXBc.2239A>C (p.Thr747Pro)
c.2098A>C (p.Thr700Pro)
c.608+320T>G
c.255+320T>G
n.380+320T>G
n.642A>C
c.2335A>C (p.Thr779Pro)
n.2558A>C
c.2104A>C (p.Thr702Pro)
n.3525A>C
n.2304A>C
5g.74721756T=CA1555784370GFM2,HEXBc.2239A= (p.Thr747=)
c.2098A= (p.Thr700=)
c.608+320T=
c.255+320T=
n.380+320T=
n.642A=
c.2335A= (p.Thr779=)
n.2558A=
c.2104A= (p.Thr702=)
n.3525A=
n.2304A=
5g.74721757dupCA658822018GFM2,HEXBc.2239dup (p.Thr747AsnfsTer?)
c.2098dup (p.Thr700AsnfsTer?)
c.608+321dup
c.255+321dup
n.380+321dup
n.642dup
c.2335dup (p.Thr779AsnfsTer?)
n.2558dup
c.2104dup (p.Thr702AsnfsTer?)
n.3525dup
n.2304dup
 ClinVar dbSNP
5g.74721757T>ACA444850269GFM2,HEXBc.2238A>T (p.Leu746=)
c.2097A>T (p.Leu699=)
c.608+321T>A
c.255+321T>A
n.380+321T>A
n.641A>T
c.2334A>T (p.Leu778=)
n.2557A>T
c.2103A>T (p.Leu701=)
n.3524A>T
n.2303A>T
5g.74721757T>CCA444850274GFM2,HEXBc.2238A>G (p.Leu746=)
c.2097A>G (p.Leu699=)
c.608+321T>C
c.255+321T>C
n.380+321T>C
n.641A>G
c.2334A>G (p.Leu778=)
n.2557A>G
c.2103A>G (p.Leu701=)
n.3524A>G
n.2303A>G
5g.74721757T>GCA444850271GFM2,HEXBc.2238A>C (p.Leu746=)
c.2097A>C (p.Leu699=)
c.608+321T>G
c.255+321T>G
n.380+321T>G
n.641A>C
c.2334A>C (p.Leu778=)
n.2557A>C
c.2103A>C (p.Leu701=)
n.3524A>C
n.2303A>C
5g.74721758A>CCA360073020GFM2,HEXBc.2237T>G (p.Leu746Arg)
c.2096T>G (p.Leu699Arg)
c.608+322A>C
c.255+322A>C
n.380+322A>C
n.640T>G
c.2333T>G (p.Leu778Arg)
n.2556T>G
c.2102T>G (p.Leu701Arg)
n.3523T>G
n.2302T>G
 gnomAD v4
5g.74721758A>GCA360073024GFM2,HEXBc.2237T>C (p.Leu746Pro)
c.2096T>C (p.Leu699Pro)
c.608+322A>G
c.255+322A>G
n.380+322A>G
n.640T>C
c.2333T>C (p.Leu778Pro)
n.2556T>C
c.2102T>C (p.Leu701Pro)
n.3523T>C
n.2302T>C
 gnomAD v4
5g.74721758A>TCA360073018GFM2,HEXBc.2237T>A (p.Leu746Gln)
c.2096T>A (p.Leu699Gln)
c.608+322A>T
c.255+322A>T
n.380+322A>T
n.640T>A
c.2333T>A (p.Leu778Gln)
n.2556T>A
c.2102T>A (p.Leu701Gln)
n.3523T>A
n.2302T>A
5g.74721759G>ACA444850280GFM2,HEXBc.2236C>T (p.Leu746=)
c.2095C>T (p.Leu699=)
c.608+323G>A
c.255+323G>A
n.380+323G>A
n.639C>T
c.2332C>T (p.Leu778=)
n.2555C>T
c.2101C>T (p.Leu701=)
n.3522C>T
n.2301C>T
5g.74721759G>CCA360073030GFM2,HEXBc.2236C>G (p.Leu746Val)
c.2095C>G (p.Leu699Val)
c.608+323G>C
c.255+323G>C
n.380+323G>C
n.639C>G
c.2332C>G (p.Leu778Val)
n.2555C>G
c.2101C>G (p.Leu701Val)
n.3522C>G
n.2301C>G
5g.74721759G>TCA360073032GFM2,HEXBc.2236C>A (p.Leu746Ile)
c.2095C>A (p.Leu699Ile)
c.608+323G>T
c.255+323G>T
n.380+323G>T
n.639C>A
c.2332C>A (p.Leu778Ile)
n.2555C>A
c.2101C>A (p.Leu701Ile)
n.3522C>A
n.2301C>A
5g.74721760_74721761delCA2674242320GFM2,HEXBc.2235_2236del (p.Leu746AsnfsTer?)
c.2094_2095del (p.Leu699AsnfsTer?)
c.608+324_608+325del
c.255+324_255+325del
n.380+324_380+325del
n.638_639del
c.2331_2332del (p.Leu778AsnfsTer?)
n.2554_2555del
c.2100_2101del (p.Leu701AsnfsTer?)
n.3521_3522del
n.2300_2301del
 gnomAD v4
5g.74721760C>ACA444850283GFM2,HEXBc.2235G>T (p.Thr745=)
c.2094G>T (p.Thr698=)
c.608+324C>A
c.255+324C>A
n.380+324C>A
n.638G>T
c.2331G>T (p.Thr777=)
n.2554G>T
c.2100G>T (p.Thr700=)
n.3521G>T
n.2300G>T
5g.74721760C>GCA444850285GFM2,HEXBc.2235G>C (p.Thr745=)
c.2094G>C (p.Thr698=)
c.608+324C>G
c.255+324C>G
n.380+324C>G
n.638G>C
c.2331G>C (p.Thr777=)
n.2554G>C
c.2100G>C (p.Thr700=)
n.3521G>C
n.2300G>C
5g.74721760C>TCA444850286GFM2,HEXBc.2235G>A (p.Thr745=)
c.2094G>A (p.Thr698=)
c.608+324C>T
c.255+324C>T
n.380+324C>T
n.638G>A
c.2331G>A (p.Thr777=)
n.2554G>A
c.2100G>A (p.Thr700=)
n.3521G>A
n.2300G>A
 gnomAD v4
5g.74721761G>ACA3306311GFM2,HEXBc.2234C>T (p.Thr745Met)
c.2093C>T (p.Thr698Met)
c.608+325G>A
c.255+325G>A
n.380+325G>A
n.637C>T
c.2330C>T (p.Thr777Met)
n.2553C>T
c.2099C>T (p.Thr700Met)
n.3520C>T
n.2299C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74721761G>CCA360073034GFM2,HEXBc.2234C>G (p.Thr745Arg)
c.2093C>G (p.Thr698Arg)
c.608+325G>C
c.255+325G>C
n.380+325G>C
n.637C>G
c.2330C>G (p.Thr777Arg)
n.2553C>G
c.2099C>G (p.Thr700Arg)
n.3520C>G
n.2299C>G
5g.74721761G=CA1555784371GFM2,HEXBc.2234C= (p.Thr745=)
c.2093C= (p.Thr698=)
c.608+325G=
c.255+325G=
n.380+325G=
n.637C=
c.2330C= (p.Thr777=)
n.2553C=
c.2099C= (p.Thr700=)
n.3520C=
n.2299C=
5g.74721761G>TCA360073037GFM2,HEXBc.2234C>A (p.Thr745Lys)
c.2093C>A (p.Thr698Lys)
c.608+325G>T
c.255+325G>T
n.380+325G>T
n.637C>A
c.2330C>A (p.Thr777Lys)
n.2553C>A
c.2099C>A (p.Thr700Lys)
n.3520C>A
n.2299C>A
5g.74721762T>ACA360073047GFM2,HEXBc.2233A>T (p.Thr745Ser)
c.2092A>T (p.Thr698Ser)
c.608+326T>A
c.255+326T>A
n.380+326T>A
n.636A>T
c.2329A>T (p.Thr777Ser)
n.2552A>T
c.2098A>T (p.Thr700Ser)
n.3519A>T
n.2298A>T
5g.74721762T>CCA360073041GFM2,HEXBc.2233A>G (p.Thr745Ala)
c.2092A>G (p.Thr698Ala)
c.608+326T>C
c.255+326T>C
n.380+326T>C
n.636A>G
c.2329A>G (p.Thr777Ala)
n.2552A>G
c.2098A>G (p.Thr700Ala)
n.3519A>G
n.2298A>G
5g.74721762T>GCA360073043GFM2,HEXBc.2233A>C (p.Thr745Pro)
c.2092A>C (p.Thr698Pro)
c.608+326T>G
c.255+326T>G
n.380+326T>G
n.636A>C
c.2329A>C (p.Thr777Pro)
n.2552A>C
c.2098A>C (p.Thr700Pro)
n.3519A>C
n.2298A>C
5g.74721763T>ACA444850293GFM2,HEXBc.2232A>T (p.Arg744=)
c.2091A>T (p.Arg697=)
c.608+327T>A
c.255+327T>A
n.380+327T>A
n.635A>T
c.2328A>T (p.Arg776=)
n.2551A>T
c.2097A>T (p.Arg699=)
n.3518A>T
n.2297A>T
5g.74721763T>CCA444850296GFM2,HEXBc.2232A>G (p.Arg744=)
c.2091A>G (p.Arg697=)
c.608+327T>C
c.255+327T>C
n.380+327T>C
n.635A>G
c.2328A>G (p.Arg776=)
n.2551A>G
c.2097A>G (p.Arg699=)
n.3518A>G
n.2297A>G
5g.74721763T>GCA444850295GFM2,HEXBc.2232A>C (p.Arg744=)
c.2091A>C (p.Arg697=)
c.608+327T>G
c.255+327T>G
n.380+327T>G
n.635A>C
c.2328A>C (p.Arg776=)
n.2551A>C
c.2097A>C (p.Arg699=)
n.3518A>C
n.2297A>C
5g.74721763_74721765delCA2578336290GFM2,HEXBc.2230_2232del (p.Arg744del)
c.2089_2091del (p.Arg697del)
c.608+327_608+329del
c.255+327_255+329del
n.380+327_380+329del
n.633_635del
c.2326_2328del (p.Arg776del)
n.2549_2551del
c.2095_2097del (p.Arg699del)
n.3516_3518del
n.2295_2297del
 gnomAD v4
5g.74721764C>ACA360073050GFM2,HEXBc.2231G>T (p.Arg744Leu)
c.2090G>T (p.Arg697Leu)
c.608+328C>A
c.255+328C>A
n.380+328C>A
n.634G>T
c.2327G>T (p.Arg776Leu)
n.2550G>T
c.2096G>T (p.Arg699Leu)
n.3517G>T
n.2296G>T
 gnomAD v4
5g.74721764C=CA1555784372GFM2,HEXBc.2231G= (p.Arg744=)
c.2090G= (p.Arg697=)
c.608+328C=
c.255+328C=
n.380+328C=
n.634G=
c.2327G= (p.Arg776=)
n.2550G=
c.2096G= (p.Arg699=)
n.3517G=
n.2296G=
5g.74721764C>GCA360073052GFM2,HEXBc.2231G>C (p.Arg744Pro)
c.2090G>C (p.Arg697Pro)
c.608+328C>G
c.255+328C>G
n.380+328C>G
n.634G>C
c.2327G>C (p.Arg776Pro)
n.2550G>C
c.2096G>C (p.Arg699Pro)
n.3517G>C
n.2296G>C
 dbSNP gnomAD v3 gnomAD v4
5g.74721764C>TCA3306312GFM2,HEXBc.2231G>A (p.Arg744Gln)
c.2090G>A (p.Arg697Gln)
c.608+328C>T
c.255+328C>T
n.380+328C>T
n.634G>A
c.2327G>A (p.Arg776Gln)
n.2550G>A
c.2096G>A (p.Arg699Gln)
n.3517G>A
n.2296G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74721765G>ACA3306313GFM2,HEXBc.2230C>T (p.Arg744Ter)
c.2089C>T (p.Arg697Ter)
c.608+329G>A
c.255+329G>A
n.380+329G>A
n.633C>T
c.2326C>T (p.Arg776Ter)
n.2549C>T
c.2095C>T (p.Arg699Ter)
n.3516C>T
n.2295C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721765G>CCA291085GFM2,HEXBc.2230C>G (p.Arg744Gly)
c.2089C>G (p.Arg697Gly)
c.608+329G>C
c.255+329G>C
n.380+329G>C
n.633C>G
c.2326C>G (p.Arg776Gly)
n.2549C>G
c.2095C>G (p.Arg699Gly)
n.3516C>G
n.2295C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74721765G=CA1555784373GFM2,HEXBc.2230C= (p.Arg744=)
c.2089C= (p.Arg697=)
c.608+329G=
c.255+329G=
n.380+329G=
n.633C=
c.2326C= (p.Arg776=)
n.2549C=
c.2095C= (p.Arg699=)
n.3516C=
n.2295C=
5g.74721765G>TCA444850303GFM2,HEXBc.2230C>A (p.Arg744=)
c.2089C>A (p.Arg697=)
c.608+329G>T
c.255+329G>T
n.380+329G>T
n.633C>A
c.2326C>A (p.Arg776=)
n.2549C>A
c.2095C>A (p.Arg699=)
n.3516C>A
n.2295C>A
5g.74721766A>CCA444850305GFM2,HEXBc.2229T>G (p.Leu743=)
c.2088T>G (p.Leu696=)
c.608+330A>C
c.255+330A>C
n.380+330A>C
n.632T>G
c.2325T>G (p.Leu775=)
n.2548T>G
c.2094T>G (p.Leu698=)
n.3515T>G
n.2294T>G
5g.74721766A>GCA444850306GFM2,HEXBc.2229T>C (p.Leu743=)
c.2088T>C (p.Leu696=)
c.608+330A>G
c.255+330A>G
n.380+330A>G
n.632T>C
c.2325T>C (p.Leu775=)
n.2548T>C
c.2094T>C (p.Leu698=)
n.3515T>C
n.2294T>C
5g.74721766A>TCA444850308GFM2,HEXBc.2229T>A (p.Leu743=)
c.2088T>A (p.Leu696=)
c.608+330A>T
c.255+330A>T
n.380+330A>T
n.632T>A
c.2325T>A (p.Leu775=)
n.2548T>A
c.2094T>A (p.Leu698=)
n.3515T>A
n.2294T>A
5g.74721767A=CA1555784374GFM2,HEXBc.2228T= (p.Leu743=)
c.2087T= (p.Leu696=)
c.608+331A=
c.255+331A=
n.380+331A=
n.631T=
c.2324T= (p.Leu775=)
n.2547T=
c.2093T= (p.Leu698=)
n.3514T=
n.2293T=
5g.74721767A>CCA360073067GFM2,HEXBc.2228T>G (p.Leu743Arg)
c.2087T>G (p.Leu696Arg)
c.608+331A>C
c.255+331A>C
n.380+331A>C
n.631T>G
c.2324T>G (p.Leu775Arg)
n.2547T>G
c.2093T>G (p.Leu698Arg)
n.3514T>G
n.2293T>G
5g.74721767A>GCA360073065GFM2,HEXBc.2228T>C (p.Leu743Pro)
c.2087T>C (p.Leu696Pro)
c.608+331A>G
c.255+331A>G
n.380+331A>G
n.631T>C
c.2324T>C (p.Leu775Pro)
n.2547T>C
c.2093T>C (p.Leu698Pro)
n.3514T>C
n.2293T>C
5g.74721767A>TCA120908779GFM2,HEXBc.2228T>A (p.Leu743His)
c.2087T>A (p.Leu696His)
c.608+331A>T
c.255+331A>T
n.380+331A>T
n.631T>A
c.2324T>A (p.Leu775His)
n.2547T>A
c.2093T>A (p.Leu698His)
n.3514T>A
n.2293T>A
 dbSNP
5g.74721767_74721797dupCA2674242335GFM2,HEXBc.2212-14_2228dup
c.2071-14_2087dup
c.608+331_608+361dup
c.255+331_255+361dup
n.380+331_380+361dup
n.615-14_631dup
c.2308-14_2324dup
n.2531-14_2547dup
c.2077-14_2093dup
n.3498-14_3514dup
n.2277-14_2293dup
 gnomAD v4
5g.74721768G>ACA360073070GFM2,HEXBc.2227C>T (p.Leu743Phe)
c.2086C>T (p.Leu696Phe)
c.608+332G>A
c.255+332G>A
n.380+332G>A
n.630C>T
c.2323C>T (p.Leu775Phe)
n.2546C>T
c.2092C>T (p.Leu698Phe)
n.3513C>T
n.2292C>T
5g.74721768G>CCA360073076GFM2,HEXBc.2227C>G (p.Leu743Val)
c.2086C>G (p.Leu696Val)
c.608+332G>C
c.255+332G>C
n.380+332G>C
n.630C>G
c.2323C>G (p.Leu775Val)
n.2546C>G
c.2092C>G (p.Leu698Val)
n.3513C>G
n.2292C>G
5g.74721768G=CA1555784375GFM2,HEXBc.2227C= (p.Leu743=)
c.2086C= (p.Leu696=)
c.608+332G=
c.255+332G=
n.380+332G=
n.630C=
c.2323C= (p.Leu775=)
n.2546C=
c.2092C= (p.Leu698=)
n.3513C=
n.2292C=
5g.74721768G>TCA360073072GFM2,HEXBc.2227C>A (p.Leu743Ile)
c.2086C>A (p.Leu696Ile)
c.608+332G>T
c.255+332G>T
n.380+332G>T
n.630C>A
c.2323C>A (p.Leu775Ile)
n.2546C>A
c.2092C>A (p.Leu698Ile)
n.3513C>A
n.2292C>A
 dbSNP gnomAD v3 gnomAD v4
5g.74721769C>ACA444850318GFM2,HEXBc.2226G>T (p.Val742=)
c.2085G>T (p.Val695=)
c.608+333C>A
c.255+333C>A
n.380+333C>A
n.629G>T
c.2322G>T (p.Val774=)
n.2545G>T
c.2091G>T (p.Val697=)
n.3512G>T
n.2291G>T
5g.74721769C>GCA444850322GFM2,HEXBc.2226G>C (p.Val742=)
c.2085G>C (p.Val695=)
c.608+333C>G
c.255+333C>G
n.380+333C>G
n.629G>C
c.2322G>C (p.Val774=)
n.2545G>C
c.2091G>C (p.Val697=)
n.3512G>C
n.2291G>C
5g.74721769C>TCA444850324GFM2,HEXBc.2226G>A (p.Val742=)
c.2085G>A (p.Val695=)
c.608+333C>T
c.255+333C>T
n.380+333C>T
n.629G>A
c.2322G>A (p.Val774=)
n.2545G>A
c.2091G>A (p.Val697=)
n.3512G>A
n.2291G>A
5g.74721770A>CCA360073078GFM2,HEXBc.2225T>G (p.Val742Gly)
c.2084T>G (p.Val695Gly)
c.608+334A>C
c.255+334A>C
n.380+334A>C
n.628T>G
c.2321T>G (p.Val774Gly)
n.2544T>G
c.2090T>G (p.Val697Gly)
n.3511T>G
n.2290T>G
5g.74721770A>GCA360073082GFM2,HEXBc.2225T>C (p.Val742Ala)
c.2084T>C (p.Val695Ala)
c.608+334A>G
c.255+334A>G
n.380+334A>G
n.628T>C
c.2321T>C (p.Val774Ala)
n.2544T>C
c.2090T>C (p.Val697Ala)
n.3511T>C
n.2290T>C
5g.74721770A>TCA360073081GFM2,HEXBc.2225T>A (p.Val742Glu)
c.2084T>A (p.Val695Glu)
c.608+334A>T
c.255+334A>T
n.380+334A>T
n.628T>A
c.2321T>A (p.Val774Glu)
n.2544T>A
c.2090T>A (p.Val697Glu)
n.3511T>A
n.2290T>A
5g.74721771C>ACA360073083GFM2,HEXBc.2224G>T (p.Val742Leu)
c.2083G>T (p.Val695Leu)
c.608+335C>A
c.255+335C>A
n.380+335C>A
n.627G>T
c.2320G>T (p.Val774Leu)
n.2543G>T
c.2089G>T (p.Val697Leu)
n.3510G>T
n.2289G>T
5g.74721771C>GCA360073084GFM2,HEXBc.2224G>C (p.Val742Leu)
c.2083G>C (p.Val695Leu)
c.608+335C>G
c.255+335C>G
n.380+335C>G
n.627G>C
c.2320G>C (p.Val774Leu)
n.2543G>C
c.2089G>C (p.Val697Leu)
n.3510G>C
n.2289G>C
5g.74721771C>TCA360073085GFM2,HEXBc.2224G>A (p.Val742Met)
c.2083G>A (p.Val695Met)
c.608+335C>T
c.255+335C>T
n.380+335C>T
n.627G>A
c.2320G>A (p.Val774Met)
n.2543G>A
c.2089G>A (p.Val697Met)
n.3510G>A
n.2289G>A
5g.74721772_74721853dupCA2599490617GFM2,HEXBc.2212-69_2224dup
c.2071-69_2083dup
c.608+336_608+417dup
c.255+336_255+417dup
n.380+336_380+417dup
n.615-69_627dup
c.2308-69_2320dup
n.2531-69_2543dup
c.2077-69_2089dup
n.3498-69_3510dup
n.2277-69_2289dup
 gnomAD v3 gnomAD v4
5g.74721772A=CA1555784376GFM2,HEXBc.2223T= (p.Thr741=)
c.2082T= (p.Thr694=)
c.608+336A=
c.255+336A=
n.380+336A=
n.626T=
c.2319T= (p.Thr773=)
n.2542T=
c.2088T= (p.Thr696=)
n.3509T=
n.2288T=
5g.74721772A>CCA3306314GFM2,HEXBc.2223T>G (p.Thr741=)
c.2082T>G (p.Thr694=)
c.608+336A>C
c.255+336A>C
n.380+336A>C
n.626T>G
c.2319T>G (p.Thr773=)
n.2542T>G
c.2088T>G (p.Thr696=)
n.3509T>G
n.2288T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721772A>GCA444850333GFM2,HEXBc.2223T>C (p.Thr741=)
c.2082T>C (p.Thr694=)
c.608+336A>G
c.255+336A>G
n.380+336A>G
n.626T>C
c.2319T>C (p.Thr773=)
n.2542T>C
c.2088T>C (p.Thr696=)
n.3509T>C
n.2288T>C
5g.74721772A>TCA444850335GFM2,HEXBc.2223T>A (p.Thr741=)
c.2082T>A (p.Thr694=)
c.608+336A>T
c.255+336A>T
n.380+336A>T
n.626T>A
c.2319T>A (p.Thr773=)
n.2542T>A
c.2088T>A (p.Thr696=)
n.3509T>A
n.2288T>A
5g.74721773_74721793dupCA2674242339GFM2,HEXBc.2212-9_2223dup
c.2071-9_2082dup
c.608+337_608+357dup
c.255+337_255+357dup
n.380+337_380+357dup
n.615-9_626dup
c.2308-9_2319dup
n.2531-9_2542dup
c.2077-9_2088dup
n.3498-9_3509dup
n.2277-9_2288dup
 gnomAD v4
5g.74721773G>ACA360073086GFM2,HEXBc.2222C>T (p.Thr741Ile)
c.2081C>T (p.Thr694Ile)
c.608+337G>A
c.255+337G>A
n.380+337G>A
n.625C>T
c.2318C>T (p.Thr773Ile)
n.2541C>T
c.2087C>T (p.Thr696Ile)
n.3508C>T
n.2287C>T
5g.74721773G>CCA360073087GFM2,HEXBc.2222C>G (p.Thr741Ser)
c.2081C>G (p.Thr694Ser)
c.608+337G>C
c.255+337G>C
n.380+337G>C
n.625C>G
c.2318C>G (p.Thr773Ser)
n.2541C>G
c.2087C>G (p.Thr696Ser)
n.3508C>G
n.2287C>G
5g.74721773G>TCA360073088GFM2,HEXBc.2222C>A (p.Thr741Asn)
c.2081C>A (p.Thr694Asn)
c.608+337G>T
c.255+337G>T
n.380+337G>T
n.625C>A
c.2318C>A (p.Thr773Asn)
n.2541C>A
c.2087C>A (p.Thr696Asn)
n.3508C>A
n.2287C>A
5g.74721774T>ACA360073089GFM2,HEXBc.2221A>T (p.Thr741Ser)
c.2080A>T (p.Thr694Ser)
c.608+338T>A
c.255+338T>A
n.380+338T>A
n.624A>T
c.2317A>T (p.Thr773Ser)
n.2540A>T
c.2086A>T (p.Thr696Ser)
n.3507A>T
n.2286A>T
5g.74721774T>CCA3306315GFM2,HEXBc.2221A>G (p.Thr741Ala)
c.2080A>G (p.Thr694Ala)
c.608+338T>C
c.255+338T>C
n.380+338T>C
n.624A>G
c.2317A>G (p.Thr773Ala)
n.2540A>G
c.2086A>G (p.Thr696Ala)
n.3507A>G
n.2286A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721774T>GCA360073091GFM2,HEXBc.2221A>C (p.Thr741Pro)
c.2080A>C (p.Thr694Pro)
c.608+338T>G
c.255+338T>G
n.380+338T>G
n.624A>C
c.2317A>C (p.Thr773Pro)
n.2540A>C
c.2086A>C (p.Thr696Pro)
n.3507A>C
n.2286A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.74721774T=CA1555784377GFM2,HEXBc.2221A= (p.Thr741=)
c.2080A= (p.Thr694=)
c.608+338T=
c.255+338T=
n.380+338T=
n.624A=
c.2317A= (p.Thr773=)
n.2540A=
c.2086A= (p.Thr696=)
n.3507A=
n.2286A=

Number of alleles fetched