Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53568742C>ACA413163249HUWE1c.6654G>T (p.Lys2218Asn)
c.6657G>T (p.Lys2219Asn)
c.6630G>T (p.Lys2210Asn)
c.6906G>T (p.Lys2302Asn)
c.6903G>T (p.Lys2301Asn)
n.7341G>T
c.7038G>T (p.Lys2346Asn)
c.7035G>T (p.Lys2345Asn)
c.7017G>T (p.Lys2339Asn)
c.6927G>T (p.Lys2309Asn)
c.6789G>T (p.Lys2263Asn)
Xg.53568742C>GCA413163250HUWE1c.6654G>C (p.Lys2218Asn)
c.6657G>C (p.Lys2219Asn)
c.6630G>C (p.Lys2210Asn)
c.6906G>C (p.Lys2302Asn)
c.6903G>C (p.Lys2301Asn)
n.7341G>C
c.7038G>C (p.Lys2346Asn)
c.7035G>C (p.Lys2345Asn)
c.7017G>C (p.Lys2339Asn)
c.6927G>C (p.Lys2309Asn)
c.6789G>C (p.Lys2263Asn)
Xg.53568742C>TCA516433649HUWE1c.6654G>A (p.Lys2218=)
c.6657G>A (p.Lys2219=)
c.6630G>A (p.Lys2210=)
c.6906G>A (p.Lys2302=)
c.6903G>A (p.Lys2301=)
n.7341G>A
c.7038G>A (p.Lys2346=)
c.7035G>A (p.Lys2345=)
c.7017G>A (p.Lys2339=)
c.6927G>A (p.Lys2309=)
c.6789G>A (p.Lys2263=)
Xg.53568743T>ACA413163251HUWE1c.6653A>T (p.Lys2218Met)
c.6656A>T (p.Lys2219Met)
c.6629A>T (p.Lys2210Met)
c.6905A>T (p.Lys2302Met)
c.6902A>T (p.Lys2301Met)
n.7340A>T
c.7037A>T (p.Lys2346Met)
c.7034A>T (p.Lys2345Met)
c.7016A>T (p.Lys2339Met)
c.6926A>T (p.Lys2309Met)
c.6788A>T (p.Lys2263Met)
Xg.53568743T>CCA413163252HUWE1c.6653A>G (p.Lys2218Arg)
c.6656A>G (p.Lys2219Arg)
c.6629A>G (p.Lys2210Arg)
c.6905A>G (p.Lys2302Arg)
c.6902A>G (p.Lys2301Arg)
n.7340A>G
c.7037A>G (p.Lys2346Arg)
c.7034A>G (p.Lys2345Arg)
c.7016A>G (p.Lys2339Arg)
c.6926A>G (p.Lys2309Arg)
c.6788A>G (p.Lys2263Arg)
 dbSNP gnomAD v4
Xg.53568743T>GCA413163255HUWE1c.6653A>C (p.Lys2218Thr)
c.6656A>C (p.Lys2219Thr)
c.6629A>C (p.Lys2210Thr)
c.6905A>C (p.Lys2302Thr)
c.6902A>C (p.Lys2301Thr)
n.7340A>C
c.7037A>C (p.Lys2346Thr)
c.7034A>C (p.Lys2345Thr)
c.7016A>C (p.Lys2339Thr)
c.6926A>C (p.Lys2309Thr)
c.6788A>C (p.Lys2263Thr)
Xg.53568743T=CA2429880752HUWE1c.6653A= (p.Lys2218=)
c.6656A= (p.Lys2219=)
c.6629A= (p.Lys2210=)
c.6905A= (p.Lys2302=)
c.6902A= (p.Lys2301=)
n.7340A=
c.7037A= (p.Lys2346=)
c.7034A= (p.Lys2345=)
c.7016A= (p.Lys2339=)
c.6926A= (p.Lys2309=)
c.6788A= (p.Lys2263=)
Xg.53568744T>ACA413163258HUWE1c.6652A>T (p.Lys2218Ter)
c.6655A>T (p.Lys2219Ter)
c.6628A>T (p.Lys2210Ter)
c.6904A>T (p.Lys2302Ter)
c.6901A>T (p.Lys2301Ter)
n.7339A>T
c.7036A>T (p.Lys2346Ter)
c.7033A>T (p.Lys2345Ter)
c.7015A>T (p.Lys2339Ter)
c.6925A>T (p.Lys2309Ter)
c.6787A>T (p.Lys2263Ter)
Xg.53568744T>CCA413163260HUWE1c.6652A>G (p.Lys2218Glu)
c.6655A>G (p.Lys2219Glu)
c.6628A>G (p.Lys2210Glu)
c.6904A>G (p.Lys2302Glu)
c.6901A>G (p.Lys2301Glu)
n.7339A>G
c.7036A>G (p.Lys2346Glu)
c.7033A>G (p.Lys2345Glu)
c.7015A>G (p.Lys2339Glu)
c.6925A>G (p.Lys2309Glu)
c.6787A>G (p.Lys2263Glu)
Xg.53568744T>GCA413163264HUWE1c.6652A>C (p.Lys2218Gln)
c.6655A>C (p.Lys2219Gln)
c.6628A>C (p.Lys2210Gln)
c.6904A>C (p.Lys2302Gln)
c.6901A>C (p.Lys2301Gln)
n.7339A>C
c.7036A>C (p.Lys2346Gln)
c.7033A>C (p.Lys2345Gln)
c.7015A>C (p.Lys2339Gln)
c.6925A>C (p.Lys2309Gln)
c.6787A>C (p.Lys2263Gln)
Xg.53568745C>ACA413163274HUWE1c.6651G>T (p.Lys2217Asn)
c.6654G>T (p.Lys2218Asn)
c.6627G>T (p.Lys2209Asn)
c.6903G>T (p.Lys2301Asn)
c.6900G>T (p.Lys2300Asn)
n.7338G>T
c.7035G>T (p.Lys2345Asn)
c.7032G>T (p.Lys2344Asn)
c.7014G>T (p.Lys2338Asn)
c.6924G>T (p.Lys2308Asn)
c.6786G>T (p.Lys2262Asn)
Xg.53568745C=CA2429880753HUWE1c.6651G= (p.Lys2217=)
c.6654G= (p.Lys2218=)
c.6627G= (p.Lys2209=)
c.6903G= (p.Lys2301=)
c.6900G= (p.Lys2300=)
n.7338G=
c.7035G= (p.Lys2345=)
c.7032G= (p.Lys2344=)
c.7014G= (p.Lys2338=)
c.6924G= (p.Lys2308=)
c.6786G= (p.Lys2262=)
Xg.53568745C>GCA413163276HUWE1c.6651G>C (p.Lys2217Asn)
c.6654G>C (p.Lys2218Asn)
c.6627G>C (p.Lys2209Asn)
c.6903G>C (p.Lys2301Asn)
c.6900G>C (p.Lys2300Asn)
n.7338G>C
c.7035G>C (p.Lys2345Asn)
c.7032G>C (p.Lys2344Asn)
c.7014G>C (p.Lys2338Asn)
c.6924G>C (p.Lys2308Asn)
c.6786G>C (p.Lys2262Asn)
Xg.53568745C>TCA516433650HUWE1c.6651G>A (p.Lys2217=)
c.6654G>A (p.Lys2218=)
c.6627G>A (p.Lys2209=)
c.6903G>A (p.Lys2301=)
c.6900G>A (p.Lys2300=)
n.7338G>A
c.7035G>A (p.Lys2345=)
c.7032G>A (p.Lys2344=)
c.7014G>A (p.Lys2338=)
c.6924G>A (p.Lys2308=)
c.6786G>A (p.Lys2262=)
 dbSNP
Xg.53568746T>ACA413163281HUWE1c.6650A>T (p.Lys2217Met)
c.6653A>T (p.Lys2218Met)
c.6626A>T (p.Lys2209Met)
c.6902A>T (p.Lys2301Met)
c.6899A>T (p.Lys2300Met)
n.7337A>T
c.7034A>T (p.Lys2345Met)
c.7031A>T (p.Lys2344Met)
c.7013A>T (p.Lys2338Met)
c.6923A>T (p.Lys2308Met)
c.6785A>T (p.Lys2262Met)
Xg.53568746T>CCA413163284HUWE1c.6650A>G (p.Lys2217Arg)
c.6653A>G (p.Lys2218Arg)
c.6626A>G (p.Lys2209Arg)
c.6902A>G (p.Lys2301Arg)
c.6899A>G (p.Lys2300Arg)
n.7337A>G
c.7034A>G (p.Lys2345Arg)
c.7031A>G (p.Lys2344Arg)
c.7013A>G (p.Lys2338Arg)
c.6923A>G (p.Lys2308Arg)
c.6785A>G (p.Lys2262Arg)
 gnomAD v4
Xg.53568746T>GCA413163287HUWE1c.6650A>C (p.Lys2217Thr)
c.6653A>C (p.Lys2218Thr)
c.6626A>C (p.Lys2209Thr)
c.6902A>C (p.Lys2301Thr)
c.6899A>C (p.Lys2300Thr)
n.7337A>C
c.7034A>C (p.Lys2345Thr)
c.7031A>C (p.Lys2344Thr)
c.7013A>C (p.Lys2338Thr)
c.6923A>C (p.Lys2308Thr)
c.6785A>C (p.Lys2262Thr)
Xg.53568747T>ACA413163289HUWE1c.6649A>T (p.Lys2217Ter)
c.6652A>T (p.Lys2218Ter)
c.6625A>T (p.Lys2209Ter)
c.6901A>T (p.Lys2301Ter)
c.6898A>T (p.Lys2300Ter)
n.7336A>T
c.7033A>T (p.Lys2345Ter)
c.7030A>T (p.Lys2344Ter)
c.7012A>T (p.Lys2338Ter)
c.6922A>T (p.Lys2308Ter)
c.6784A>T (p.Lys2262Ter)
Xg.53568747T>CCA413163293HUWE1c.6649A>G (p.Lys2217Glu)
c.6652A>G (p.Lys2218Glu)
c.6625A>G (p.Lys2209Glu)
c.6901A>G (p.Lys2301Glu)
c.6898A>G (p.Lys2300Glu)
n.7336A>G
c.7033A>G (p.Lys2345Glu)
c.7030A>G (p.Lys2344Glu)
c.7012A>G (p.Lys2338Glu)
c.6922A>G (p.Lys2308Glu)
c.6784A>G (p.Lys2262Glu)
 ClinVar
Xg.53568747T>GCA413163291HUWE1c.6649A>C (p.Lys2217Gln)
c.6652A>C (p.Lys2218Gln)
c.6625A>C (p.Lys2209Gln)
c.6901A>C (p.Lys2301Gln)
c.6898A>C (p.Lys2300Gln)
n.7336A>C
c.7033A>C (p.Lys2345Gln)
c.7030A>C (p.Lys2344Gln)
c.7012A>C (p.Lys2338Gln)
c.6922A>C (p.Lys2308Gln)
c.6784A>C (p.Lys2262Gln)
Xg.53568748C>ACA516433651HUWE1c.6648G>T (p.Leu2216=)
c.6651G>T (p.Leu2217=)
c.6624G>T (p.Leu2208=)
c.6900G>T (p.Leu2300=)
c.6897G>T (p.Leu2299=)
n.7335G>T
c.7032G>T (p.Leu2344=)
c.7029G>T (p.Leu2343=)
c.7011G>T (p.Leu2337=)
c.6921G>T (p.Leu2307=)
c.6783G>T (p.Leu2261=)
Xg.53568748C>GCA516433653HUWE1c.6648G>C (p.Leu2216=)
c.6651G>C (p.Leu2217=)
c.6624G>C (p.Leu2208=)
c.6900G>C (p.Leu2300=)
c.6897G>C (p.Leu2299=)
n.7335G>C
c.7032G>C (p.Leu2344=)
c.7029G>C (p.Leu2343=)
c.7011G>C (p.Leu2337=)
c.6921G>C (p.Leu2307=)
c.6783G>C (p.Leu2261=)
Xg.53568748C>TCA516433652HUWE1c.6648G>A (p.Leu2216=)
c.6651G>A (p.Leu2217=)
c.6624G>A (p.Leu2208=)
c.6900G>A (p.Leu2300=)
c.6897G>A (p.Leu2299=)
n.7335G>A
c.7032G>A (p.Leu2344=)
c.7029G>A (p.Leu2343=)
c.7011G>A (p.Leu2337=)
c.6921G>A (p.Leu2307=)
c.6783G>A (p.Leu2261=)
Xg.53568749A>CCA413163297HUWE1c.6647T>G (p.Leu2216Arg)
c.6650T>G (p.Leu2217Arg)
c.6623T>G (p.Leu2208Arg)
c.6899T>G (p.Leu2300Arg)
c.6896T>G (p.Leu2299Arg)
n.7334T>G
c.7031T>G (p.Leu2344Arg)
c.7028T>G (p.Leu2343Arg)
c.7010T>G (p.Leu2337Arg)
c.6920T>G (p.Leu2307Arg)
c.6782T>G (p.Leu2261Arg)
Xg.53568749A>GCA413163303HUWE1c.6647T>C (p.Leu2216Pro)
c.6650T>C (p.Leu2217Pro)
c.6623T>C (p.Leu2208Pro)
c.6899T>C (p.Leu2300Pro)
c.6896T>C (p.Leu2299Pro)
n.7334T>C
c.7031T>C (p.Leu2344Pro)
c.7028T>C (p.Leu2343Pro)
c.7010T>C (p.Leu2337Pro)
c.6920T>C (p.Leu2307Pro)
c.6782T>C (p.Leu2261Pro)
Xg.53568749A>TCA413163305HUWE1c.6647T>A (p.Leu2216Gln)
c.6650T>A (p.Leu2217Gln)
c.6623T>A (p.Leu2208Gln)
c.6899T>A (p.Leu2300Gln)
c.6896T>A (p.Leu2299Gln)
n.7334T>A
c.7031T>A (p.Leu2344Gln)
c.7028T>A (p.Leu2343Gln)
c.7010T>A (p.Leu2337Gln)
c.6920T>A (p.Leu2307Gln)
c.6782T>A (p.Leu2261Gln)
Xg.53568750G>ACA516433654HUWE1c.6646C>T (p.Leu2216=)
c.6649C>T (p.Leu2217=)
c.6622C>T (p.Leu2208=)
c.6898C>T (p.Leu2300=)
c.6895C>T (p.Leu2299=)
n.7333C>T
c.7030C>T (p.Leu2344=)
c.7027C>T (p.Leu2343=)
c.7009C>T (p.Leu2337=)
c.6919C>T (p.Leu2307=)
c.6781C>T (p.Leu2261=)
Xg.53568750G>CCA413163308HUWE1c.6646C>G (p.Leu2216Val)
c.6649C>G (p.Leu2217Val)
c.6622C>G (p.Leu2208Val)
c.6898C>G (p.Leu2300Val)
c.6895C>G (p.Leu2299Val)
n.7333C>G
c.7030C>G (p.Leu2344Val)
c.7027C>G (p.Leu2343Val)
c.7009C>G (p.Leu2337Val)
c.6919C>G (p.Leu2307Val)
c.6781C>G (p.Leu2261Val)
Xg.53568750G>TCA413163311HUWE1c.6646C>A (p.Leu2216Met)
c.6649C>A (p.Leu2217Met)
c.6622C>A (p.Leu2208Met)
c.6898C>A (p.Leu2300Met)
c.6895C>A (p.Leu2299Met)
n.7333C>A
c.7030C>A (p.Leu2344Met)
c.7027C>A (p.Leu2343Met)
c.7009C>A (p.Leu2337Met)
c.6919C>A (p.Leu2307Met)
c.6781C>A (p.Leu2261Met)
Xg.53568751G>ACA516433655HUWE1c.6645C>T (p.Phe2215=)
c.6648C>T (p.Phe2216=)
c.6621C>T (p.Phe2207=)
c.6897C>T (p.Phe2299=)
c.6894C>T (p.Phe2298=)
n.7332C>T
c.7029C>T (p.Phe2343=)
c.7026C>T (p.Phe2342=)
c.7008C>T (p.Phe2336=)
c.6918C>T (p.Phe2306=)
c.6780C>T (p.Phe2260=)
 gnomAD v4
Xg.53568751G>CCA413163313HUWE1c.6645C>G (p.Phe2215Leu)
c.6648C>G (p.Phe2216Leu)
c.6621C>G (p.Phe2207Leu)
c.6897C>G (p.Phe2299Leu)
c.6894C>G (p.Phe2298Leu)
n.7332C>G
c.7029C>G (p.Phe2343Leu)
c.7026C>G (p.Phe2342Leu)
c.7008C>G (p.Phe2336Leu)
c.6918C>G (p.Phe2306Leu)
c.6780C>G (p.Phe2260Leu)
Xg.53568751G>TCA413163316HUWE1c.6645C>A (p.Phe2215Leu)
c.6648C>A (p.Phe2216Leu)
c.6621C>A (p.Phe2207Leu)
c.6897C>A (p.Phe2299Leu)
c.6894C>A (p.Phe2298Leu)
n.7332C>A
c.7029C>A (p.Phe2343Leu)
c.7026C>A (p.Phe2342Leu)
c.7008C>A (p.Phe2336Leu)
c.6918C>A (p.Phe2306Leu)
c.6780C>A (p.Phe2260Leu)
Xg.53568752A>CCA413163319HUWE1c.6644T>G (p.Phe2215Cys)
c.6647T>G (p.Phe2216Cys)
c.6620T>G (p.Phe2207Cys)
c.6896T>G (p.Phe2299Cys)
c.6893T>G (p.Phe2298Cys)
n.7331T>G
c.7028T>G (p.Phe2343Cys)
c.7025T>G (p.Phe2342Cys)
c.7007T>G (p.Phe2336Cys)
c.6917T>G (p.Phe2306Cys)
c.6779T>G (p.Phe2260Cys)
Xg.53568752A>GCA413163322HUWE1c.6644T>C (p.Phe2215Ser)
c.6647T>C (p.Phe2216Ser)
c.6620T>C (p.Phe2207Ser)
c.6896T>C (p.Phe2299Ser)
c.6893T>C (p.Phe2298Ser)
n.7331T>C
c.7028T>C (p.Phe2343Ser)
c.7025T>C (p.Phe2342Ser)
c.7007T>C (p.Phe2336Ser)
c.6917T>C (p.Phe2306Ser)
c.6779T>C (p.Phe2260Ser)
Xg.53568752A>TCA413163325HUWE1c.6644T>A (p.Phe2215Tyr)
c.6647T>A (p.Phe2216Tyr)
c.6620T>A (p.Phe2207Tyr)
c.6896T>A (p.Phe2299Tyr)
c.6893T>A (p.Phe2298Tyr)
n.7331T>A
c.7028T>A (p.Phe2343Tyr)
c.7025T>A (p.Phe2342Tyr)
c.7007T>A (p.Phe2336Tyr)
c.6917T>A (p.Phe2306Tyr)
c.6779T>A (p.Phe2260Tyr)
Xg.53568755delCA2569188456HUWE1c.6644del (p.Phe2215SerfsTer2)
c.6647del (p.Phe2216SerfsTer2)
c.6620del (p.Phe2207SerfsTer2)
c.6896del (p.Phe2299SerfsTer2)
c.6893del (p.Phe2298SerfsTer2)
n.7331del
c.7028del (p.Phe2343SerfsTer2)
c.7025del (p.Phe2342SerfsTer2)
c.7007del (p.Phe2336SerfsTer2)
c.6917del (p.Phe2306SerfsTer2)
c.6779del (p.Phe2260SerfsTer2)
Xg.53568753A>CCA413163331HUWE1c.6643T>G (p.Phe2215Val)
c.6646T>G (p.Phe2216Val)
c.6619T>G (p.Phe2207Val)
c.6895T>G (p.Phe2299Val)
c.6892T>G (p.Phe2298Val)
n.7330T>G
c.7027T>G (p.Phe2343Val)
c.7024T>G (p.Phe2342Val)
c.7006T>G (p.Phe2336Val)
c.6916T>G (p.Phe2306Val)
c.6778T>G (p.Phe2260Val)
Xg.53568753A>GCA413163332HUWE1c.6643T>C (p.Phe2215Leu)
c.6646T>C (p.Phe2216Leu)
c.6619T>C (p.Phe2207Leu)
c.6895T>C (p.Phe2299Leu)
c.6892T>C (p.Phe2298Leu)
n.7330T>C
c.7027T>C (p.Phe2343Leu)
c.7024T>C (p.Phe2342Leu)
c.7006T>C (p.Phe2336Leu)
c.6916T>C (p.Phe2306Leu)
c.6778T>C (p.Phe2260Leu)
Xg.53568753A>TCA413163329HUWE1c.6643T>A (p.Phe2215Ile)
c.6646T>A (p.Phe2216Ile)
c.6619T>A (p.Phe2207Ile)
c.6895T>A (p.Phe2299Ile)
c.6892T>A (p.Phe2298Ile)
n.7330T>A
c.7027T>A (p.Phe2343Ile)
c.7024T>A (p.Phe2342Ile)
c.7006T>A (p.Phe2336Ile)
c.6916T>A (p.Phe2306Ile)
c.6778T>A (p.Phe2260Ile)
Xg.53568754A>CCA516433656HUWE1c.6642T>G (p.Leu2214=)
c.6645T>G (p.Leu2215=)
c.6618T>G (p.Leu2206=)
c.6894T>G (p.Leu2298=)
c.6891T>G (p.Leu2297=)
n.7329T>G
c.7026T>G (p.Leu2342=)
c.7023T>G (p.Leu2341=)
c.7005T>G (p.Leu2335=)
c.6915T>G (p.Leu2305=)
c.6777T>G (p.Leu2259=)
Xg.53568754A>GCA516433658HUWE1c.6642T>C (p.Leu2214=)
c.6645T>C (p.Leu2215=)
c.6618T>C (p.Leu2206=)
c.6894T>C (p.Leu2298=)
c.6891T>C (p.Leu2297=)
n.7329T>C
c.7026T>C (p.Leu2342=)
c.7023T>C (p.Leu2341=)
c.7005T>C (p.Leu2335=)
c.6915T>C (p.Leu2305=)
c.6777T>C (p.Leu2259=)
Xg.53568754A>TCA516433657HUWE1c.6642T>A (p.Leu2214=)
c.6645T>A (p.Leu2215=)
c.6618T>A (p.Leu2206=)
c.6894T>A (p.Leu2298=)
c.6891T>A (p.Leu2297=)
n.7329T>A
c.7026T>A (p.Leu2342=)
c.7023T>A (p.Leu2341=)
c.7005T>A (p.Leu2335=)
c.6915T>A (p.Leu2305=)
c.6777T>A (p.Leu2259=)
Xg.53568755A>CCA413163349HUWE1c.6641T>G (p.Leu2214Arg)
c.6644T>G (p.Leu2215Arg)
c.6617T>G (p.Leu2206Arg)
c.6893T>G (p.Leu2298Arg)
c.6890T>G (p.Leu2297Arg)
n.7328T>G
c.7025T>G (p.Leu2342Arg)
c.7022T>G (p.Leu2341Arg)
c.7004T>G (p.Leu2335Arg)
c.6914T>G (p.Leu2305Arg)
c.6776T>G (p.Leu2259Arg)
Xg.53568755A>GCA413163334HUWE1c.6641T>C (p.Leu2214Pro)
c.6644T>C (p.Leu2215Pro)
c.6617T>C (p.Leu2206Pro)
c.6893T>C (p.Leu2298Pro)
c.6890T>C (p.Leu2297Pro)
n.7328T>C
c.7025T>C (p.Leu2342Pro)
c.7022T>C (p.Leu2341Pro)
c.7004T>C (p.Leu2335Pro)
c.6914T>C (p.Leu2305Pro)
c.6776T>C (p.Leu2259Pro)
Xg.53568755A>TCA413163336HUWE1c.6641T>A (p.Leu2214His)
c.6644T>A (p.Leu2215His)
c.6617T>A (p.Leu2206His)
c.6893T>A (p.Leu2298His)
c.6890T>A (p.Leu2297His)
n.7328T>A
c.7025T>A (p.Leu2342His)
c.7022T>A (p.Leu2341His)
c.7004T>A (p.Leu2335His)
c.6914T>A (p.Leu2305His)
c.6776T>A (p.Leu2259His)
Xg.53568756G>ACA413163354HUWE1c.6640C>T (p.Leu2214Phe)
c.6643C>T (p.Leu2215Phe)
c.6616C>T (p.Leu2206Phe)
c.6892C>T (p.Leu2298Phe)
c.6889C>T (p.Leu2297Phe)
n.7327C>T
c.7024C>T (p.Leu2342Phe)
c.7021C>T (p.Leu2341Phe)
c.7003C>T (p.Leu2335Phe)
c.6913C>T (p.Leu2305Phe)
c.6775C>T (p.Leu2259Phe)
Xg.53568756G>CCA413163357HUWE1c.6640C>G (p.Leu2214Val)
c.6643C>G (p.Leu2215Val)
c.6616C>G (p.Leu2206Val)
c.6892C>G (p.Leu2298Val)
c.6889C>G (p.Leu2297Val)
n.7327C>G
c.7024C>G (p.Leu2342Val)
c.7021C>G (p.Leu2341Val)
c.7003C>G (p.Leu2335Val)
c.6913C>G (p.Leu2305Val)
c.6775C>G (p.Leu2259Val)
Xg.53568756G>TCA413163360HUWE1c.6640C>A (p.Leu2214Ile)
c.6643C>A (p.Leu2215Ile)
c.6616C>A (p.Leu2206Ile)
c.6892C>A (p.Leu2298Ile)
c.6889C>A (p.Leu2297Ile)
n.7327C>A
c.7024C>A (p.Leu2342Ile)
c.7021C>A (p.Leu2341Ile)
c.7003C>A (p.Leu2335Ile)
c.6913C>A (p.Leu2305Ile)
c.6775C>A (p.Leu2259Ile)
 COSMIC COSMIC
Xg.53568757C>ACA516433659HUWE1c.6639G>T (p.Arg2213=)
c.6642G>T (p.Arg2214=)
c.6615G>T (p.Arg2205=)
c.6891G>T (p.Arg2297=)
c.6888G>T (p.Arg2296=)
n.7326G>T
c.7023G>T (p.Arg2341=)
c.7020G>T (p.Arg2340=)
c.7002G>T (p.Arg2334=)
c.6912G>T (p.Arg2304=)
c.6774G>T (p.Arg2258=)
Xg.53568757C>GCA516433660HUWE1c.6639G>C (p.Arg2213=)
c.6642G>C (p.Arg2214=)
c.6615G>C (p.Arg2205=)
c.6891G>C (p.Arg2297=)
c.6888G>C (p.Arg2296=)
n.7326G>C
c.7023G>C (p.Arg2341=)
c.7020G>C (p.Arg2340=)
c.7002G>C (p.Arg2334=)
c.6912G>C (p.Arg2304=)
c.6774G>C (p.Arg2258=)
Xg.53568757C>TCA516433661HUWE1c.6639G>A (p.Arg2213=)
c.6642G>A (p.Arg2214=)
c.6615G>A (p.Arg2205=)
c.6891G>A (p.Arg2297=)
c.6888G>A (p.Arg2296=)
n.7326G>A
c.7023G>A (p.Arg2341=)
c.7020G>A (p.Arg2340=)
c.7002G>A (p.Arg2334=)
c.6912G>A (p.Arg2304=)
c.6774G>A (p.Arg2258=)
Xg.53568758C>ACA413163370HUWE1c.6638G>T (p.Arg2213Leu)
c.6641G>T (p.Arg2214Leu)
c.6614G>T (p.Arg2205Leu)
c.6890G>T (p.Arg2297Leu)
c.6887G>T (p.Arg2296Leu)
n.7325G>T
c.7022G>T (p.Arg2341Leu)
c.7019G>T (p.Arg2340Leu)
c.7001G>T (p.Arg2334Leu)
c.6911G>T (p.Arg2304Leu)
c.6773G>T (p.Arg2258Leu)
Xg.53568758C>GCA413163366HUWE1c.6638G>C (p.Arg2213Pro)
c.6641G>C (p.Arg2214Pro)
c.6614G>C (p.Arg2205Pro)
c.6890G>C (p.Arg2297Pro)
c.6887G>C (p.Arg2296Pro)
n.7325G>C
c.7022G>C (p.Arg2341Pro)
c.7019G>C (p.Arg2340Pro)
c.7001G>C (p.Arg2334Pro)
c.6911G>C (p.Arg2304Pro)
c.6773G>C (p.Arg2258Pro)
Xg.53568758C>TCA413163364HUWE1c.6638G>A (p.Arg2213Gln)
c.6641G>A (p.Arg2214Gln)
c.6614G>A (p.Arg2205Gln)
c.6890G>A (p.Arg2297Gln)
c.6887G>A (p.Arg2296Gln)
n.7325G>A
c.7022G>A (p.Arg2341Gln)
c.7019G>A (p.Arg2340Gln)
c.7001G>A (p.Arg2334Gln)
c.6911G>A (p.Arg2304Gln)
c.6773G>A (p.Arg2258Gln)
 COSMIC COSMIC
Xg.53568759G>ACA413163374HUWE1c.6637C>T (p.Arg2213Trp)
c.6640C>T (p.Arg2214Trp)
c.6613C>T (p.Arg2205Trp)
c.6889C>T (p.Arg2297Trp)
c.6886C>T (p.Arg2296Trp)
n.7324C>T
c.7021C>T (p.Arg2341Trp)
c.7018C>T (p.Arg2340Trp)
c.7000C>T (p.Arg2334Trp)
c.6910C>T (p.Arg2304Trp)
c.6772C>T (p.Arg2258Trp)
 COSMIC COSMIC
Xg.53568759G>CCA413163377HUWE1c.6637C>G (p.Arg2213Gly)
c.6640C>G (p.Arg2214Gly)
c.6613C>G (p.Arg2205Gly)
c.6889C>G (p.Arg2297Gly)
c.6886C>G (p.Arg2296Gly)
n.7324C>G
c.7021C>G (p.Arg2341Gly)
c.7018C>G (p.Arg2340Gly)
c.7000C>G (p.Arg2334Gly)
c.6910C>G (p.Arg2304Gly)
c.6772C>G (p.Arg2258Gly)
Xg.53568759G>TCA516433662HUWE1c.6637C>A (p.Arg2213=)
c.6640C>A (p.Arg2214=)
c.6613C>A (p.Arg2205=)
c.6889C>A (p.Arg2297=)
c.6886C>A (p.Arg2296=)
n.7324C>A
c.7021C>A (p.Arg2341=)
c.7018C>A (p.Arg2340=)
c.7000C>A (p.Arg2334=)
c.6910C>A (p.Arg2304=)
c.6772C>A (p.Arg2258=)
Xg.53568760A>CCA413163380HUWE1c.6636T>G (p.Ile2212Met)
c.6639T>G (p.Ile2213Met)
c.6612T>G (p.Ile2204Met)
c.6888T>G (p.Ile2296Met)
c.6885T>G (p.Ile2295Met)
n.7323T>G
c.7020T>G (p.Ile2340Met)
c.7017T>G (p.Ile2339Met)
c.6999T>G (p.Ile2333Met)
c.6909T>G (p.Ile2303Met)
c.6771T>G (p.Ile2257Met)
Xg.53568760A>GCA516433663HUWE1c.6636T>C (p.Ile2212=)
c.6639T>C (p.Ile2213=)
c.6612T>C (p.Ile2204=)
c.6888T>C (p.Ile2296=)
c.6885T>C (p.Ile2295=)
n.7323T>C
c.7020T>C (p.Ile2340=)
c.7017T>C (p.Ile2339=)
c.6999T>C (p.Ile2333=)
c.6909T>C (p.Ile2303=)
c.6771T>C (p.Ile2257=)
Xg.53568760A>TCA516433664HUWE1c.6636T>A (p.Ile2212=)
c.6639T>A (p.Ile2213=)
c.6612T>A (p.Ile2204=)
c.6888T>A (p.Ile2296=)
c.6885T>A (p.Ile2295=)
n.7323T>A
c.7020T>A (p.Ile2340=)
c.7017T>A (p.Ile2339=)
c.6999T>A (p.Ile2333=)
c.6909T>A (p.Ile2303=)
c.6771T>A (p.Ile2257=)
Xg.53568761A>CCA413163384HUWE1c.6635T>G (p.Ile2212Ser)
c.6638T>G (p.Ile2213Ser)
c.6611T>G (p.Ile2204Ser)
c.6887T>G (p.Ile2296Ser)
c.6884T>G (p.Ile2295Ser)
n.7322T>G
c.7019T>G (p.Ile2340Ser)
c.7016T>G (p.Ile2339Ser)
c.6998T>G (p.Ile2333Ser)
c.6908T>G (p.Ile2303Ser)
c.6770T>G (p.Ile2257Ser)
Xg.53568761A>GCA413163394HUWE1c.6635T>C (p.Ile2212Thr)
c.6638T>C (p.Ile2213Thr)
c.6611T>C (p.Ile2204Thr)
c.6887T>C (p.Ile2296Thr)
c.6884T>C (p.Ile2295Thr)
n.7322T>C
c.7019T>C (p.Ile2340Thr)
c.7016T>C (p.Ile2339Thr)
c.6998T>C (p.Ile2333Thr)
c.6908T>C (p.Ile2303Thr)
c.6770T>C (p.Ile2257Thr)
Xg.53568761A>TCA413163398HUWE1c.6635T>A (p.Ile2212Asn)
c.6638T>A (p.Ile2213Asn)
c.6611T>A (p.Ile2204Asn)
c.6887T>A (p.Ile2296Asn)
c.6884T>A (p.Ile2295Asn)
n.7322T>A
c.7019T>A (p.Ile2340Asn)
c.7016T>A (p.Ile2339Asn)
c.6998T>A (p.Ile2333Asn)
c.6908T>A (p.Ile2303Asn)
c.6770T>A (p.Ile2257Asn)
Xg.53568762T>ACA413163404HUWE1c.6634A>T (p.Ile2212Phe)
c.6637A>T (p.Ile2213Phe)
c.6610A>T (p.Ile2204Phe)
c.6886A>T (p.Ile2296Phe)
c.6883A>T (p.Ile2295Phe)
n.7321A>T
c.7018A>T (p.Ile2340Phe)
c.7015A>T (p.Ile2339Phe)
c.6997A>T (p.Ile2333Phe)
c.6907A>T (p.Ile2303Phe)
c.6769A>T (p.Ile2257Phe)
Xg.53568762T>CCA413163412HUWE1c.6634A>G (p.Ile2212Val)
c.6637A>G (p.Ile2213Val)
c.6610A>G (p.Ile2204Val)
c.6886A>G (p.Ile2296Val)
c.6883A>G (p.Ile2295Val)
n.7321A>G
c.7018A>G (p.Ile2340Val)
c.7015A>G (p.Ile2339Val)
c.6997A>G (p.Ile2333Val)
c.6907A>G (p.Ile2303Val)
c.6769A>G (p.Ile2257Val)
Xg.53568762T>GCA413163408HUWE1c.6634A>C (p.Ile2212Leu)
c.6637A>C (p.Ile2213Leu)
c.6610A>C (p.Ile2204Leu)
c.6886A>C (p.Ile2296Leu)
c.6883A>C (p.Ile2295Leu)
n.7321A>C
c.7018A>C (p.Ile2340Leu)
c.7015A>C (p.Ile2339Leu)
c.6997A>C (p.Ile2333Leu)
c.6907A>C (p.Ile2303Leu)
c.6769A>C (p.Ile2257Leu)
Xg.53568763G>ACA516433666HUWE1c.6633C>T (p.Ile2211=)
c.6636C>T (p.Ile2212=)
c.6609C>T (p.Ile2203=)
c.6885C>T (p.Ile2295=)
c.6882C>T (p.Ile2294=)
n.7320C>T
c.7017C>T (p.Ile2339=)
c.7014C>T (p.Ile2338=)
c.6996C>T (p.Ile2332=)
c.6906C>T (p.Ile2302=)
c.6768C>T (p.Ile2256=)
Xg.53568763G>CCA413163416HUWE1c.6633C>G (p.Ile2211Met)
c.6636C>G (p.Ile2212Met)
c.6609C>G (p.Ile2203Met)
c.6885C>G (p.Ile2295Met)
c.6882C>G (p.Ile2294Met)
n.7320C>G
c.7017C>G (p.Ile2339Met)
c.7014C>G (p.Ile2338Met)
c.6996C>G (p.Ile2332Met)
c.6906C>G (p.Ile2302Met)
c.6768C>G (p.Ile2256Met)
Xg.53568763G>TCA516433665HUWE1c.6633C>A (p.Ile2211=)
c.6636C>A (p.Ile2212=)
c.6609C>A (p.Ile2203=)
c.6885C>A (p.Ile2295=)
c.6882C>A (p.Ile2294=)
n.7320C>A
c.7017C>A (p.Ile2339=)
c.7014C>A (p.Ile2338=)
c.6996C>A (p.Ile2332=)
c.6906C>A (p.Ile2302=)
c.6768C>A (p.Ile2256=)
 COSMIC COSMIC
Xg.53568764A>CCA413163419HUWE1c.6632T>G (p.Ile2211Ser)
c.6635T>G (p.Ile2212Ser)
c.6608T>G (p.Ile2203Ser)
c.6884T>G (p.Ile2295Ser)
c.6881T>G (p.Ile2294Ser)
n.7319T>G
c.7016T>G (p.Ile2339Ser)
c.7013T>G (p.Ile2338Ser)
c.6995T>G (p.Ile2332Ser)
c.6905T>G (p.Ile2302Ser)
c.6767T>G (p.Ile2256Ser)
 COSMIC COSMIC
Xg.53568764A>GCA413163422HUWE1c.6632T>C (p.Ile2211Thr)
c.6635T>C (p.Ile2212Thr)
c.6608T>C (p.Ile2203Thr)
c.6884T>C (p.Ile2295Thr)
c.6881T>C (p.Ile2294Thr)
n.7319T>C
c.7016T>C (p.Ile2339Thr)
c.7013T>C (p.Ile2338Thr)
c.6995T>C (p.Ile2332Thr)
c.6905T>C (p.Ile2302Thr)
c.6767T>C (p.Ile2256Thr)
Xg.53568764A>TCA413163425HUWE1c.6632T>A (p.Ile2211Asn)
c.6635T>A (p.Ile2212Asn)
c.6608T>A (p.Ile2203Asn)
c.6884T>A (p.Ile2295Asn)
c.6881T>A (p.Ile2294Asn)
n.7319T>A
c.7016T>A (p.Ile2339Asn)
c.7013T>A (p.Ile2338Asn)
c.6995T>A (p.Ile2332Asn)
c.6905T>A (p.Ile2302Asn)
c.6767T>A (p.Ile2256Asn)
Xg.53568765T>ACA413163429HUWE1c.6631A>T (p.Ile2211Phe)
c.6634A>T (p.Ile2212Phe)
c.6607A>T (p.Ile2203Phe)
c.6883A>T (p.Ile2295Phe)
c.6880A>T (p.Ile2294Phe)
n.7318A>T
c.7015A>T (p.Ile2339Phe)
c.7012A>T (p.Ile2338Phe)
c.6994A>T (p.Ile2332Phe)
c.6904A>T (p.Ile2302Phe)
c.6766A>T (p.Ile2256Phe)
Xg.53568765T>CCA413163432HUWE1c.6631A>G (p.Ile2211Val)
c.6634A>G (p.Ile2212Val)
c.6607A>G (p.Ile2203Val)
c.6883A>G (p.Ile2295Val)
c.6880A>G (p.Ile2294Val)
n.7318A>G
c.7015A>G (p.Ile2339Val)
c.7012A>G (p.Ile2338Val)
c.6994A>G (p.Ile2332Val)
c.6904A>G (p.Ile2302Val)
c.6766A>G (p.Ile2256Val)
 gnomAD v4 COSMIC COSMIC
Xg.53568765T>GCA413163435HUWE1c.6631A>C (p.Ile2211Leu)
c.6634A>C (p.Ile2212Leu)
c.6607A>C (p.Ile2203Leu)
c.6883A>C (p.Ile2295Leu)
c.6880A>C (p.Ile2294Leu)
n.7318A>C
c.7015A>C (p.Ile2339Leu)
c.7012A>C (p.Ile2338Leu)
c.6994A>C (p.Ile2332Leu)
c.6904A>C (p.Ile2302Leu)
c.6766A>C (p.Ile2256Leu)
Xg.53568766G>ACA10422067HUWE1c.6630C>T (p.Asn2210=)
c.6633C>T (p.Asn2211=)
c.6606C>T (p.Asn2202=)
c.6882C>T (p.Asn2294=)
c.6879C>T (p.Asn2293=)
n.7317C>T
c.7014C>T (p.Asn2338=)
c.7011C>T (p.Asn2337=)
c.6993C>T (p.Asn2331=)
c.6903C>T (p.Asn2301=)
c.6765C>T (p.Asn2255=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53568766G>CCA413163446HUWE1c.6630C>G (p.Asn2210Lys)
c.6633C>G (p.Asn2211Lys)
c.6606C>G (p.Asn2202Lys)
c.6882C>G (p.Asn2294Lys)
c.6879C>G (p.Asn2293Lys)
n.7317C>G
c.7014C>G (p.Asn2338Lys)
c.7011C>G (p.Asn2337Lys)
c.6993C>G (p.Asn2331Lys)
c.6903C>G (p.Asn2301Lys)
c.6765C>G (p.Asn2255Lys)
Xg.53568766G=CA2429880754HUWE1c.6630C= (p.Asn2210=)
c.6633C= (p.Asn2211=)
c.6606C= (p.Asn2202=)
c.6882C= (p.Asn2294=)
c.6879C= (p.Asn2293=)
n.7317C=
c.7014C= (p.Asn2338=)
c.7011C= (p.Asn2337=)
c.6993C= (p.Asn2331=)
c.6903C= (p.Asn2301=)
c.6765C= (p.Asn2255=)
Xg.53568766G>TCA413163449HUWE1c.6630C>A (p.Asn2210Lys)
c.6633C>A (p.Asn2211Lys)
c.6606C>A (p.Asn2202Lys)
c.6882C>A (p.Asn2294Lys)
c.6879C>A (p.Asn2293Lys)
n.7317C>A
c.7014C>A (p.Asn2338Lys)
c.7011C>A (p.Asn2337Lys)
c.6993C>A (p.Asn2331Lys)
c.6903C>A (p.Asn2301Lys)
c.6765C>A (p.Asn2255Lys)
Xg.53568767T>ACA413163451HUWE1c.6629A>T (p.Asn2210Ile)
c.6632A>T (p.Asn2211Ile)
c.6605A>T (p.Asn2202Ile)
c.6881A>T (p.Asn2294Ile)
c.6878A>T (p.Asn2293Ile)
n.7316A>T
c.7013A>T (p.Asn2338Ile)
c.7010A>T (p.Asn2337Ile)
c.6992A>T (p.Asn2331Ile)
c.6902A>T (p.Asn2301Ile)
c.6764A>T (p.Asn2255Ile)
Xg.53568767T>CCA204918HUWE1c.6629A>G (p.Asn2210Ser)
c.6632A>G (p.Asn2211Ser)
c.6605A>G (p.Asn2202Ser)
c.6881A>G (p.Asn2294Ser)
c.6878A>G (p.Asn2293Ser)
n.7316A>G
c.7013A>G (p.Asn2338Ser)
c.7010A>G (p.Asn2337Ser)
c.6992A>G (p.Asn2331Ser)
c.6902A>G (p.Asn2301Ser)
c.6764A>G (p.Asn2255Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53568767T>GCA413163450HUWE1c.6629A>C (p.Asn2210Thr)
c.6632A>C (p.Asn2211Thr)
c.6605A>C (p.Asn2202Thr)
c.6881A>C (p.Asn2294Thr)
c.6878A>C (p.Asn2293Thr)
n.7316A>C
c.7013A>C (p.Asn2338Thr)
c.7010A>C (p.Asn2337Thr)
c.6992A>C (p.Asn2331Thr)
c.6902A>C (p.Asn2301Thr)
c.6764A>C (p.Asn2255Thr)
Xg.53568767T=CA2429880755HUWE1c.6629A= (p.Asn2210=)
c.6632A= (p.Asn2211=)
c.6605A= (p.Asn2202=)
c.6881A= (p.Asn2294=)
c.6878A= (p.Asn2293=)
n.7316A=
c.7013A= (p.Asn2338=)
c.7010A= (p.Asn2337=)
c.6992A= (p.Asn2331=)
c.6902A= (p.Asn2301=)
c.6764A= (p.Asn2255=)
Xg.53568768T>ACA413163452HUWE1c.6628A>T (p.Asn2210Tyr)
c.6631A>T (p.Asn2211Tyr)
c.6604A>T (p.Asn2202Tyr)
c.6880A>T (p.Asn2294Tyr)
c.6877A>T (p.Asn2293Tyr)
n.7315A>T
c.7012A>T (p.Asn2338Tyr)
c.7009A>T (p.Asn2337Tyr)
c.6991A>T (p.Asn2331Tyr)
c.6901A>T (p.Asn2301Tyr)
c.6763A>T (p.Asn2255Tyr)
Xg.53568768T>CCA413163453HUWE1c.6628A>G (p.Asn2210Asp)
c.6631A>G (p.Asn2211Asp)
c.6604A>G (p.Asn2202Asp)
c.6880A>G (p.Asn2294Asp)
c.6877A>G (p.Asn2293Asp)
n.7315A>G
c.7012A>G (p.Asn2338Asp)
c.7009A>G (p.Asn2337Asp)
c.6991A>G (p.Asn2331Asp)
c.6901A>G (p.Asn2301Asp)
c.6763A>G (p.Asn2255Asp)
Xg.53568768T>GCA413163454HUWE1c.6628A>C (p.Asn2210His)
c.6631A>C (p.Asn2211His)
c.6604A>C (p.Asn2202His)
c.6880A>C (p.Asn2294His)
c.6877A>C (p.Asn2293His)
n.7315A>C
c.7012A>C (p.Asn2338His)
c.7009A>C (p.Asn2337His)
c.6991A>C (p.Asn2331His)
c.6901A>C (p.Asn2301His)
c.6763A>C (p.Asn2255His)
Xg.53568769G>ACA516433667HUWE1c.6627C>T (p.Asn2209=)
c.6630C>T (p.Asn2210=)
c.6603C>T (p.Asn2201=)
c.6879C>T (p.Asn2293=)
c.6876C>T (p.Asn2292=)
n.7314C>T
c.7011C>T (p.Asn2337=)
c.7008C>T (p.Asn2336=)
c.6990C>T (p.Asn2330=)
c.6900C>T (p.Asn2300=)
c.6762C>T (p.Asn2254=)
 dbSNP gnomAD v2
Xg.53568769G>CCA413163457HUWE1c.6627C>G (p.Asn2209Lys)
c.6630C>G (p.Asn2210Lys)
c.6603C>G (p.Asn2201Lys)
c.6879C>G (p.Asn2293Lys)
c.6876C>G (p.Asn2292Lys)
n.7314C>G
c.7011C>G (p.Asn2337Lys)
c.7008C>G (p.Asn2336Lys)
c.6990C>G (p.Asn2330Lys)
c.6900C>G (p.Asn2300Lys)
c.6762C>G (p.Asn2254Lys)
Xg.53568769G=CA2429880756HUWE1c.6627C= (p.Asn2209=)
c.6630C= (p.Asn2210=)
c.6603C= (p.Asn2201=)
c.6879C= (p.Asn2293=)
c.6876C= (p.Asn2292=)
n.7314C=
c.7011C= (p.Asn2337=)
c.7008C= (p.Asn2336=)
c.6990C= (p.Asn2330=)
c.6900C= (p.Asn2300=)
c.6762C= (p.Asn2254=)
Xg.53568769G>TCA413163459HUWE1c.6627C>A (p.Asn2209Lys)
c.6630C>A (p.Asn2210Lys)
c.6603C>A (p.Asn2201Lys)
c.6879C>A (p.Asn2293Lys)
c.6876C>A (p.Asn2292Lys)
n.7314C>A
c.7011C>A (p.Asn2337Lys)
c.7008C>A (p.Asn2336Lys)
c.6990C>A (p.Asn2330Lys)
c.6900C>A (p.Asn2300Lys)
c.6762C>A (p.Asn2254Lys)
Xg.53568770T>ACA413163471HUWE1c.6626A>T (p.Asn2209Ile)
c.6629A>T (p.Asn2210Ile)
c.6602A>T (p.Asn2201Ile)
c.6878A>T (p.Asn2293Ile)
c.6875A>T (p.Asn2292Ile)
n.7313A>T
c.7010A>T (p.Asn2337Ile)
c.7007A>T (p.Asn2336Ile)
c.6989A>T (p.Asn2330Ile)
c.6899A>T (p.Asn2300Ile)
c.6761A>T (p.Asn2254Ile)
Xg.53568770T>CCA413163470HUWE1c.6626A>G (p.Asn2209Ser)
c.6629A>G (p.Asn2210Ser)
c.6602A>G (p.Asn2201Ser)
c.6878A>G (p.Asn2293Ser)
c.6875A>G (p.Asn2292Ser)
n.7313A>G
c.7010A>G (p.Asn2337Ser)
c.7007A>G (p.Asn2336Ser)
c.6989A>G (p.Asn2330Ser)
c.6899A>G (p.Asn2300Ser)
c.6761A>G (p.Asn2254Ser)
 dbSNP gnomAD v2 COSMIC COSMIC
Xg.53568770T>GCA413163467HUWE1c.6626A>C (p.Asn2209Thr)
c.6629A>C (p.Asn2210Thr)
c.6602A>C (p.Asn2201Thr)
c.6878A>C (p.Asn2293Thr)
c.6875A>C (p.Asn2292Thr)
n.7313A>C
c.7010A>C (p.Asn2337Thr)
c.7007A>C (p.Asn2336Thr)
c.6989A>C (p.Asn2330Thr)
c.6899A>C (p.Asn2300Thr)
c.6761A>C (p.Asn2254Thr)
Xg.53568770T=CA2429880757HUWE1c.6626A= (p.Asn2209=)
c.6629A= (p.Asn2210=)
c.6602A= (p.Asn2201=)
c.6878A= (p.Asn2293=)
c.6875A= (p.Asn2292=)
n.7313A=
c.7010A= (p.Asn2337=)
c.7007A= (p.Asn2336=)
c.6989A= (p.Asn2330=)
c.6899A= (p.Asn2300=)
c.6761A= (p.Asn2254=)
Xg.53568771T>ACA413163475HUWE1c.6625A>T (p.Asn2209Tyr)
c.6628A>T (p.Asn2210Tyr)
c.6601A>T (p.Asn2201Tyr)
c.6877A>T (p.Asn2293Tyr)
c.6874A>T (p.Asn2292Tyr)
n.7312A>T
c.7009A>T (p.Asn2337Tyr)
c.7006A>T (p.Asn2336Tyr)
c.6988A>T (p.Asn2330Tyr)
c.6898A>T (p.Asn2300Tyr)
c.6760A>T (p.Asn2254Tyr)
Xg.53568771T>CCA413163477HUWE1c.6625A>G (p.Asn2209Asp)
c.6628A>G (p.Asn2210Asp)
c.6601A>G (p.Asn2201Asp)
c.6877A>G (p.Asn2293Asp)
c.6874A>G (p.Asn2292Asp)
n.7312A>G
c.7009A>G (p.Asn2337Asp)
c.7006A>G (p.Asn2336Asp)
c.6988A>G (p.Asn2330Asp)
c.6898A>G (p.Asn2300Asp)
c.6760A>G (p.Asn2254Asp)
Xg.53568771T>GCA413163479HUWE1c.6625A>C (p.Asn2209His)
c.6628A>C (p.Asn2210His)
c.6601A>C (p.Asn2201His)
c.6877A>C (p.Asn2293His)
c.6874A>C (p.Asn2292His)
n.7312A>C
c.7009A>C (p.Asn2337His)
c.7006A>C (p.Asn2336His)
c.6988A>C (p.Asn2330His)
c.6898A>C (p.Asn2300His)
c.6760A>C (p.Asn2254His)
Xg.53568772C>ACA413163489HUWE1c.6624G>T (p.Met2208Ile)
c.6627G>T (p.Met2209Ile)
c.6600G>T (p.Met2200Ile)
c.6876G>T (p.Met2292Ile)
c.6873G>T (p.Met2291Ile)
n.7311G>T
c.7008G>T (p.Met2336Ile)
c.7005G>T (p.Met2335Ile)
c.6987G>T (p.Met2329Ile)
c.6897G>T (p.Met2299Ile)
c.6759G>T (p.Met2253Ile)
Xg.53568772C>GCA413163492HUWE1c.6624G>C (p.Met2208Ile)
c.6627G>C (p.Met2209Ile)
c.6600G>C (p.Met2200Ile)
c.6876G>C (p.Met2292Ile)
c.6873G>C (p.Met2291Ile)
n.7311G>C
c.7008G>C (p.Met2336Ile)
c.7005G>C (p.Met2335Ile)
c.6987G>C (p.Met2329Ile)
c.6897G>C (p.Met2299Ile)
c.6759G>C (p.Met2253Ile)
Xg.53568772C>TCA413163494HUWE1c.6624G>A (p.Met2208Ile)
c.6627G>A (p.Met2209Ile)
c.6600G>A (p.Met2200Ile)
c.6876G>A (p.Met2292Ile)
c.6873G>A (p.Met2291Ile)
n.7311G>A
c.7008G>A (p.Met2336Ile)
c.7005G>A (p.Met2335Ile)
c.6987G>A (p.Met2329Ile)
c.6897G>A (p.Met2299Ile)
c.6759G>A (p.Met2253Ile)
Xg.53568773A>CCA413163495HUWE1c.6623T>G (p.Met2208Arg)
c.6626T>G (p.Met2209Arg)
c.6599T>G (p.Met2200Arg)
c.6875T>G (p.Met2292Arg)
c.6872T>G (p.Met2291Arg)
n.7310T>G
c.7007T>G (p.Met2336Arg)
c.7004T>G (p.Met2335Arg)
c.6986T>G (p.Met2329Arg)
c.6896T>G (p.Met2299Arg)
c.6758T>G (p.Met2253Arg)
Xg.53568773A>GCA413163499HUWE1c.6623T>C (p.Met2208Thr)
c.6626T>C (p.Met2209Thr)
c.6599T>C (p.Met2200Thr)
c.6875T>C (p.Met2292Thr)
c.6872T>C (p.Met2291Thr)
n.7310T>C
c.7007T>C (p.Met2336Thr)
c.7004T>C (p.Met2335Thr)
c.6986T>C (p.Met2329Thr)
c.6896T>C (p.Met2299Thr)
c.6758T>C (p.Met2253Thr)
Xg.53568773A>TCA413163496HUWE1c.6623T>A (p.Met2208Lys)
c.6626T>A (p.Met2209Lys)
c.6599T>A (p.Met2200Lys)
c.6875T>A (p.Met2292Lys)
c.6872T>A (p.Met2291Lys)
n.7310T>A
c.7007T>A (p.Met2336Lys)
c.7004T>A (p.Met2335Lys)
c.6986T>A (p.Met2329Lys)
c.6896T>A (p.Met2299Lys)
c.6758T>A (p.Met2253Lys)
Xg.53568774T>ACA413163501HUWE1c.6622A>T (p.Met2208Leu)
c.6625A>T (p.Met2209Leu)
c.6598A>T (p.Met2200Leu)
c.6874A>T (p.Met2292Leu)
c.6871A>T (p.Met2291Leu)
n.7309A>T
c.7006A>T (p.Met2336Leu)
c.7003A>T (p.Met2335Leu)
c.6985A>T (p.Met2329Leu)
c.6895A>T (p.Met2299Leu)
c.6757A>T (p.Met2253Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.53568774T>CCA413163517HUWE1c.6622A>G (p.Met2208Val)
c.6625A>G (p.Met2209Val)
c.6598A>G (p.Met2200Val)
c.6874A>G (p.Met2292Val)
c.6871A>G (p.Met2291Val)
n.7309A>G
c.7006A>G (p.Met2336Val)
c.7003A>G (p.Met2335Val)
c.6985A>G (p.Met2329Val)
c.6895A>G (p.Met2299Val)
c.6757A>G (p.Met2253Val)
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.53568774T>GCA413163521HUWE1c.6622A>C (p.Met2208Leu)
c.6625A>C (p.Met2209Leu)
c.6598A>C (p.Met2200Leu)
c.6874A>C (p.Met2292Leu)
c.6871A>C (p.Met2291Leu)
n.7309A>C
c.7006A>C (p.Met2336Leu)
c.7003A>C (p.Met2335Leu)
c.6985A>C (p.Met2329Leu)
c.6895A>C (p.Met2299Leu)
c.6757A>C (p.Met2253Leu)
Xg.53568774T=CA2429880758HUWE1c.6622A= (p.Met2208=)
c.6625A= (p.Met2209=)
c.6598A= (p.Met2200=)
c.6874A= (p.Met2292=)
c.6871A= (p.Met2291=)
n.7309A=
c.7006A= (p.Met2336=)
c.7003A= (p.Met2335=)
c.6985A= (p.Met2329=)
c.6895A= (p.Met2299=)
c.6757A= (p.Met2253=)
Xg.53568775G>ACA516433668HUWE1c.6621C>T (p.Gly2207=)
c.6624C>T (p.Gly2208=)
c.6597C>T (p.Gly2199=)
c.6873C>T (p.Gly2291=)
c.6870C>T (p.Gly2290=)
n.7308C>T
c.7005C>T (p.Gly2335=)
c.7002C>T (p.Gly2334=)
c.6984C>T (p.Gly2328=)
c.6894C>T (p.Gly2298=)
c.6756C>T (p.Gly2252=)
Xg.53568775G>CCA516433669HUWE1c.6621C>G (p.Gly2207=)
c.6624C>G (p.Gly2208=)
c.6597C>G (p.Gly2199=)
c.6873C>G (p.Gly2291=)
c.6870C>G (p.Gly2290=)
n.7308C>G
c.7005C>G (p.Gly2335=)
c.7002C>G (p.Gly2334=)
c.6984C>G (p.Gly2328=)
c.6894C>G (p.Gly2298=)
c.6756C>G (p.Gly2252=)
Xg.53568775G>TCA516433671HUWE1c.6621C>A (p.Gly2207=)
c.6624C>A (p.Gly2208=)
c.6597C>A (p.Gly2199=)
c.6873C>A (p.Gly2291=)
c.6870C>A (p.Gly2290=)
n.7308C>A
c.7005C>A (p.Gly2335=)
c.7002C>A (p.Gly2334=)
c.6984C>A (p.Gly2328=)
c.6894C>A (p.Gly2298=)
c.6756C>A (p.Gly2252=)
Xg.53568776C>ACA413163527HUWE1c.6620G>T (p.Gly2207Val)
c.6623G>T (p.Gly2208Val)
c.6596G>T (p.Gly2199Val)
c.6872G>T (p.Gly2291Val)
c.6869G>T (p.Gly2290Val)
n.7307G>T
c.7004G>T (p.Gly2335Val)
c.7001G>T (p.Gly2334Val)
c.6983G>T (p.Gly2328Val)
c.6893G>T (p.Gly2298Val)
c.6755G>T (p.Gly2252Val)
 dbSNP
Xg.53568776C=CA2429880759HUWE1c.6620G= (p.Gly2207=)
c.6623G= (p.Gly2208=)
c.6596G= (p.Gly2199=)
c.6872G= (p.Gly2291=)
c.6869G= (p.Gly2290=)
n.7307G=
c.7004G= (p.Gly2335=)
c.7001G= (p.Gly2334=)
c.6983G= (p.Gly2328=)
c.6893G= (p.Gly2298=)
c.6755G= (p.Gly2252=)
Xg.53568776C>GCA413163553HUWE1c.6620G>C (p.Gly2207Ala)
c.6623G>C (p.Gly2208Ala)
c.6596G>C (p.Gly2199Ala)
c.6872G>C (p.Gly2291Ala)
c.6869G>C (p.Gly2290Ala)
n.7307G>C
c.7004G>C (p.Gly2335Ala)
c.7001G>C (p.Gly2334Ala)
c.6983G>C (p.Gly2328Ala)
c.6893G>C (p.Gly2298Ala)
c.6755G>C (p.Gly2252Ala)
Xg.53568776C>TCA413163557HUWE1c.6620G>A (p.Gly2207Asp)
c.6623G>A (p.Gly2208Asp)
c.6596G>A (p.Gly2199Asp)
c.6872G>A (p.Gly2291Asp)
c.6869G>A (p.Gly2290Asp)
n.7307G>A
c.7004G>A (p.Gly2335Asp)
c.7001G>A (p.Gly2334Asp)
c.6983G>A (p.Gly2328Asp)
c.6893G>A (p.Gly2298Asp)
c.6755G>A (p.Gly2252Asp)
 gnomAD v4 COSMIC COSMIC
Xg.53568777C>ACA413163561HUWE1c.6619G>T (p.Gly2207Cys)
c.6622G>T (p.Gly2208Cys)
c.6595G>T (p.Gly2199Cys)
c.6871G>T (p.Gly2291Cys)
c.6868G>T (p.Gly2290Cys)
n.7306G>T
c.7003G>T (p.Gly2335Cys)
c.7000G>T (p.Gly2334Cys)
c.6982G>T (p.Gly2328Cys)
c.6892G>T (p.Gly2298Cys)
c.6754G>T (p.Gly2252Cys)
Xg.53568777C>GCA413163563HUWE1c.6619G>C (p.Gly2207Arg)
c.6622G>C (p.Gly2208Arg)
c.6595G>C (p.Gly2199Arg)
c.6871G>C (p.Gly2291Arg)
c.6868G>C (p.Gly2290Arg)
n.7306G>C
c.7003G>C (p.Gly2335Arg)
c.7000G>C (p.Gly2334Arg)
c.6982G>C (p.Gly2328Arg)
c.6892G>C (p.Gly2298Arg)
c.6754G>C (p.Gly2252Arg)
Xg.53568777C>TCA413163566HUWE1c.6619G>A (p.Gly2207Ser)
c.6622G>A (p.Gly2208Ser)
c.6595G>A (p.Gly2199Ser)
c.6871G>A (p.Gly2291Ser)
c.6868G>A (p.Gly2290Ser)
n.7306G>A
c.7003G>A (p.Gly2335Ser)
c.7000G>A (p.Gly2334Ser)
c.6982G>A (p.Gly2328Ser)
c.6892G>A (p.Gly2298Ser)
c.6754G>A (p.Gly2252Ser)
Xg.53568778A>CCA413163569HUWE1c.6618T>G (p.Asn2206Lys)
c.6621T>G (p.Asn2207Lys)
c.6594T>G (p.Asn2198Lys)
c.6870T>G (p.Asn2290Lys)
c.6867T>G (p.Asn2289Lys)
n.7305T>G
c.7002T>G (p.Asn2334Lys)
c.6999T>G (p.Asn2333Lys)
c.6981T>G (p.Asn2327Lys)
c.6891T>G (p.Asn2297Lys)
c.6753T>G (p.Asn2251Lys)
Xg.53568778A>GCA516433672HUWE1c.6618T>C (p.Asn2206=)
c.6621T>C (p.Asn2207=)
c.6594T>C (p.Asn2198=)
c.6870T>C (p.Asn2290=)
c.6867T>C (p.Asn2289=)
n.7305T>C
c.7002T>C (p.Asn2334=)
c.6999T>C (p.Asn2333=)
c.6981T>C (p.Asn2327=)
c.6891T>C (p.Asn2297=)
c.6753T>C (p.Asn2251=)
Xg.53568778A>TCA413163573HUWE1c.6618T>A (p.Asn2206Lys)
c.6621T>A (p.Asn2207Lys)
c.6594T>A (p.Asn2198Lys)
c.6870T>A (p.Asn2290Lys)
c.6867T>A (p.Asn2289Lys)
n.7305T>A
c.7002T>A (p.Asn2334Lys)
c.6999T>A (p.Asn2333Lys)
c.6981T>A (p.Asn2327Lys)
c.6891T>A (p.Asn2297Lys)
c.6753T>A (p.Asn2251Lys)
Xg.53568779T>ACA413163584HUWE1c.6617A>T (p.Asn2206Ile)
c.6620A>T (p.Asn2207Ile)
c.6593A>T (p.Asn2198Ile)
c.6869A>T (p.Asn2290Ile)
c.6866A>T (p.Asn2289Ile)
n.7304A>T
c.7001A>T (p.Asn2334Ile)
c.6998A>T (p.Asn2333Ile)
c.6980A>T (p.Asn2327Ile)
c.6890A>T (p.Asn2297Ile)
c.6752A>T (p.Asn2251Ile)
Xg.53568779T>CCA413163582HUWE1c.6617A>G (p.Asn2206Ser)
c.6620A>G (p.Asn2207Ser)
c.6593A>G (p.Asn2198Ser)
c.6869A>G (p.Asn2290Ser)
c.6866A>G (p.Asn2289Ser)
n.7304A>G
c.7001A>G (p.Asn2334Ser)
c.6998A>G (p.Asn2333Ser)
c.6980A>G (p.Asn2327Ser)
c.6890A>G (p.Asn2297Ser)
c.6752A>G (p.Asn2251Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53568779T>GCA413163579HUWE1c.6617A>C (p.Asn2206Thr)
c.6620A>C (p.Asn2207Thr)
c.6593A>C (p.Asn2198Thr)
c.6869A>C (p.Asn2290Thr)
c.6866A>C (p.Asn2289Thr)
n.7304A>C
c.7001A>C (p.Asn2334Thr)
c.6998A>C (p.Asn2333Thr)
c.6980A>C (p.Asn2327Thr)
c.6890A>C (p.Asn2297Thr)
c.6752A>C (p.Asn2251Thr)
Xg.53568779T=CA2429880760HUWE1c.6617A= (p.Asn2206=)
c.6620A= (p.Asn2207=)
c.6593A= (p.Asn2198=)
c.6869A= (p.Asn2290=)
c.6866A= (p.Asn2289=)
n.7304A=
c.7001A= (p.Asn2334=)
c.6998A= (p.Asn2333=)
c.6980A= (p.Asn2327=)
c.6890A= (p.Asn2297=)
c.6752A= (p.Asn2251=)
Xg.53568780T>ACA413163586HUWE1c.6616A>T (p.Asn2206Tyr)
c.6619A>T (p.Asn2207Tyr)
c.6592A>T (p.Asn2198Tyr)
c.6868A>T (p.Asn2290Tyr)
c.6865A>T (p.Asn2289Tyr)
n.7303A>T
c.7000A>T (p.Asn2334Tyr)
c.6997A>T (p.Asn2333Tyr)
c.6979A>T (p.Asn2327Tyr)
c.6889A>T (p.Asn2297Tyr)
c.6751A>T (p.Asn2251Tyr)
Xg.53568780T>CCA413163590HUWE1c.6616A>G (p.Asn2206Asp)
c.6619A>G (p.Asn2207Asp)
c.6592A>G (p.Asn2198Asp)
c.6868A>G (p.Asn2290Asp)
c.6865A>G (p.Asn2289Asp)
n.7303A>G
c.7000A>G (p.Asn2334Asp)
c.6997A>G (p.Asn2333Asp)
c.6979A>G (p.Asn2327Asp)
c.6889A>G (p.Asn2297Asp)
c.6751A>G (p.Asn2251Asp)
 gnomAD v4
Xg.53568780T>GCA413163588HUWE1c.6616A>C (p.Asn2206His)
c.6619A>C (p.Asn2207His)
c.6592A>C (p.Asn2198His)
c.6868A>C (p.Asn2290His)
c.6865A>C (p.Asn2289His)
n.7303A>C
c.7000A>C (p.Asn2334His)
c.6997A>C (p.Asn2333His)
c.6979A>C (p.Asn2327His)
c.6889A>C (p.Asn2297His)
c.6751A>C (p.Asn2251His)
Xg.53568781G>ACA516433673HUWE1c.6615C>T (p.His2205=)
c.6618C>T (p.His2206=)
c.6591C>T (p.His2197=)
c.6867C>T (p.His2289=)
c.6864C>T (p.His2288=)
n.7302C>T
c.6999C>T (p.His2333=)
c.6996C>T (p.His2332=)
c.6978C>T (p.His2326=)
c.6888C>T (p.His2296=)
c.6750C>T (p.His2250=)
 dbSNP gnomAD v4
Xg.53568781G>CCA413163592HUWE1c.6615C>G (p.His2205Gln)
c.6618C>G (p.His2206Gln)
c.6591C>G (p.His2197Gln)
c.6867C>G (p.His2289Gln)
c.6864C>G (p.His2288Gln)
n.7302C>G
c.6999C>G (p.His2333Gln)
c.6996C>G (p.His2332Gln)
c.6978C>G (p.His2326Gln)
c.6888C>G (p.His2296Gln)
c.6750C>G (p.His2250Gln)
Xg.53568781G=CA2429880761HUWE1c.6615C= (p.His2205=)
c.6618C= (p.His2206=)
c.6591C= (p.His2197=)
c.6867C= (p.His2289=)
c.6864C= (p.His2288=)
n.7302C=
c.6999C= (p.His2333=)
c.6996C= (p.His2332=)
c.6978C= (p.His2326=)
c.6888C= (p.His2296=)
c.6750C= (p.His2250=)
Xg.53568781G>TCA413163595HUWE1c.6615C>A (p.His2205Gln)
c.6618C>A (p.His2206Gln)
c.6591C>A (p.His2197Gln)
c.6867C>A (p.His2289Gln)
c.6864C>A (p.His2288Gln)
n.7302C>A
c.6999C>A (p.His2333Gln)
c.6996C>A (p.His2332Gln)
c.6978C>A (p.His2326Gln)
c.6888C>A (p.His2296Gln)
c.6750C>A (p.His2250Gln)
 dbSNP
Xg.53568782T>ACA413163598HUWE1c.6614A>T (p.His2205Leu)
c.6617A>T (p.His2206Leu)
c.6590A>T (p.His2197Leu)
c.6866A>T (p.His2289Leu)
c.6863A>T (p.His2288Leu)
n.7301A>T
c.6998A>T (p.His2333Leu)
c.6995A>T (p.His2332Leu)
c.6977A>T (p.His2326Leu)
c.6887A>T (p.His2296Leu)
c.6749A>T (p.His2250Leu)
Xg.53568782T>CCA413163601HUWE1c.6614A>G (p.His2205Arg)
c.6617A>G (p.His2206Arg)
c.6590A>G (p.His2197Arg)
c.6866A>G (p.His2289Arg)
c.6863A>G (p.His2288Arg)
n.7301A>G
c.6998A>G (p.His2333Arg)
c.6995A>G (p.His2332Arg)
c.6977A>G (p.His2326Arg)
c.6887A>G (p.His2296Arg)
c.6749A>G (p.His2250Arg)
Xg.53568782T>GCA413163603HUWE1c.6614A>C (p.His2205Pro)
c.6617A>C (p.His2206Pro)
c.6590A>C (p.His2197Pro)
c.6866A>C (p.His2289Pro)
c.6863A>C (p.His2288Pro)
n.7301A>C
c.6998A>C (p.His2333Pro)
c.6995A>C (p.His2332Pro)
c.6977A>C (p.His2326Pro)
c.6887A>C (p.His2296Pro)
c.6749A>C (p.His2250Pro)
Xg.53568783G>ACA413163605HUWE1c.6613C>T (p.His2205Tyr)
c.6616C>T (p.His2206Tyr)
c.6589C>T (p.His2197Tyr)
c.6865C>T (p.His2289Tyr)
c.6862C>T (p.His2288Tyr)
n.7300C>T
c.6997C>T (p.His2333Tyr)
c.6994C>T (p.His2332Tyr)
c.6976C>T (p.His2326Tyr)
c.6886C>T (p.His2296Tyr)
c.6748C>T (p.His2250Tyr)
Xg.53568783G>CCA413163607HUWE1c.6613C>G (p.His2205Asp)
c.6616C>G (p.His2206Asp)
c.6589C>G (p.His2197Asp)
c.6865C>G (p.His2289Asp)
c.6862C>G (p.His2288Asp)
n.7300C>G
c.6997C>G (p.His2333Asp)
c.6994C>G (p.His2332Asp)
c.6976C>G (p.His2326Asp)
c.6886C>G (p.His2296Asp)
c.6748C>G (p.His2250Asp)
Xg.53568783G>TCA413163612HUWE1c.6613C>A (p.His2205Asn)
c.6616C>A (p.His2206Asn)
c.6589C>A (p.His2197Asn)
c.6865C>A (p.His2289Asn)
c.6862C>A (p.His2288Asn)
n.7300C>A
c.6997C>A (p.His2333Asn)
c.6994C>A (p.His2332Asn)
c.6976C>A (p.His2326Asn)
c.6886C>A (p.His2296Asn)
c.6748C>A (p.His2250Asn)
Xg.53568784C>ACA413163615HUWE1c.6612G>T (p.Gln2204His)
c.6615G>T (p.Gln2205His)
c.6588G>T (p.Gln2196His)
c.6864G>T (p.Gln2288His)
c.6861G>T (p.Gln2287His)
n.7299G>T
c.6996G>T (p.Gln2332His)
c.6993G>T (p.Gln2331His)
c.6975G>T (p.Gln2325His)
c.6885G>T (p.Gln2295His)
c.6747G>T (p.Gln2249His)
Xg.53568784C>GCA413163621HUWE1c.6612G>C (p.Gln2204His)
c.6615G>C (p.Gln2205His)
c.6588G>C (p.Gln2196His)
c.6864G>C (p.Gln2288His)
c.6861G>C (p.Gln2287His)
n.7299G>C
c.6996G>C (p.Gln2332His)
c.6993G>C (p.Gln2331His)
c.6975G>C (p.Gln2325His)
c.6885G>C (p.Gln2295His)
c.6747G>C (p.Gln2249His)
Xg.53568784C>TCA516433674HUWE1c.6612G>A (p.Gln2204=)
c.6615G>A (p.Gln2205=)
c.6588G>A (p.Gln2196=)
c.6864G>A (p.Gln2288=)
c.6861G>A (p.Gln2287=)
n.7299G>A
c.6996G>A (p.Gln2332=)
c.6993G>A (p.Gln2331=)
c.6975G>A (p.Gln2325=)
c.6885G>A (p.Gln2295=)
c.6747G>A (p.Gln2249=)
 gnomAD v4
Xg.53568785T>ACA413163624HUWE1c.6611A>T (p.Gln2204Leu)
c.6614A>T (p.Gln2205Leu)
c.6587A>T (p.Gln2196Leu)
c.6863A>T (p.Gln2288Leu)
c.6860A>T (p.Gln2287Leu)
n.7298A>T
c.6995A>T (p.Gln2332Leu)
c.6992A>T (p.Gln2331Leu)
c.6974A>T (p.Gln2325Leu)
c.6884A>T (p.Gln2295Leu)
c.6746A>T (p.Gln2249Leu)
Xg.53568785T>CCA413163627HUWE1c.6611A>G (p.Gln2204Arg)
c.6614A>G (p.Gln2205Arg)
c.6587A>G (p.Gln2196Arg)
c.6863A>G (p.Gln2288Arg)
c.6860A>G (p.Gln2287Arg)
n.7298A>G
c.6995A>G (p.Gln2332Arg)
c.6992A>G (p.Gln2331Arg)
c.6974A>G (p.Gln2325Arg)
c.6884A>G (p.Gln2295Arg)
c.6746A>G (p.Gln2249Arg)
Xg.53568785T>GCA413163629HUWE1c.6611A>C (p.Gln2204Pro)
c.6614A>C (p.Gln2205Pro)
c.6587A>C (p.Gln2196Pro)
c.6863A>C (p.Gln2288Pro)
c.6860A>C (p.Gln2287Pro)
n.7298A>C
c.6995A>C (p.Gln2332Pro)
c.6992A>C (p.Gln2331Pro)
c.6974A>C (p.Gln2325Pro)
c.6884A>C (p.Gln2295Pro)
c.6746A>C (p.Gln2249Pro)
Xg.53568786G>ACA413163639HUWE1c.6610C>T (p.Gln2204Ter)
c.6613C>T (p.Gln2205Ter)
c.6586C>T (p.Gln2196Ter)
c.6862C>T (p.Gln2288Ter)
c.6859C>T (p.Gln2287Ter)
n.7297C>T
c.6994C>T (p.Gln2332Ter)
c.6991C>T (p.Gln2331Ter)
c.6973C>T (p.Gln2325Ter)
c.6883C>T (p.Gln2295Ter)
c.6745C>T (p.Gln2249Ter)
Xg.53568786G>CCA413163632HUWE1c.6610C>G (p.Gln2204Glu)
c.6613C>G (p.Gln2205Glu)
c.6586C>G (p.Gln2196Glu)
c.6862C>G (p.Gln2288Glu)
c.6859C>G (p.Gln2287Glu)
n.7297C>G
c.6994C>G (p.Gln2332Glu)
c.6991C>G (p.Gln2331Glu)
c.6973C>G (p.Gln2325Glu)
c.6883C>G (p.Gln2295Glu)
c.6745C>G (p.Gln2249Glu)
Xg.53568786G>TCA413163637HUWE1c.6610C>A (p.Gln2204Lys)
c.6613C>A (p.Gln2205Lys)
c.6586C>A (p.Gln2196Lys)
c.6862C>A (p.Gln2288Lys)
c.6859C>A (p.Gln2287Lys)
n.7297C>A
c.6994C>A (p.Gln2332Lys)
c.6991C>A (p.Gln2331Lys)
c.6973C>A (p.Gln2325Lys)
c.6883C>A (p.Gln2295Lys)
c.6745C>A (p.Gln2249Lys)
Xg.53568787G>ACA516433675HUWE1c.6609C>T (p.Thr2203=)
c.6612C>T (p.Thr2204=)
c.6585C>T (p.Thr2195=)
c.6861C>T (p.Thr2287=)
c.6858C>T (p.Thr2286=)
n.7296C>T
c.6993C>T (p.Thr2331=)
c.6990C>T (p.Thr2330=)
c.6972C>T (p.Thr2324=)
c.6882C>T (p.Thr2294=)
c.6744C>T (p.Thr2248=)
 COSMIC COSMIC
Xg.53568787G>CCA516433676HUWE1c.6609C>G (p.Thr2203=)
c.6612C>G (p.Thr2204=)
c.6585C>G (p.Thr2195=)
c.6861C>G (p.Thr2287=)
c.6858C>G (p.Thr2286=)
n.7296C>G
c.6993C>G (p.Thr2331=)
c.6990C>G (p.Thr2330=)
c.6972C>G (p.Thr2324=)
c.6882C>G (p.Thr2294=)
c.6744C>G (p.Thr2248=)
Xg.53568787G>TCA516433677HUWE1c.6609C>A (p.Thr2203=)
c.6612C>A (p.Thr2204=)
c.6585C>A (p.Thr2195=)
c.6861C>A (p.Thr2287=)
c.6858C>A (p.Thr2286=)
n.7296C>A
c.6993C>A (p.Thr2331=)
c.6990C>A (p.Thr2330=)
c.6972C>A (p.Thr2324=)
c.6882C>A (p.Thr2294=)
c.6744C>A (p.Thr2248=)
Xg.53568788G>ACA413163641HUWE1c.6608C>T (p.Thr2203Ile)
c.6611C>T (p.Thr2204Ile)
c.6584C>T (p.Thr2195Ile)
c.6860C>T (p.Thr2287Ile)
c.6857C>T (p.Thr2286Ile)
n.7295C>T
c.6992C>T (p.Thr2331Ile)
c.6989C>T (p.Thr2330Ile)
c.6971C>T (p.Thr2324Ile)
c.6881C>T (p.Thr2294Ile)
c.6743C>T (p.Thr2248Ile)
Xg.53568788G>CCA413163642HUWE1c.6608C>G (p.Thr2203Ser)
c.6611C>G (p.Thr2204Ser)
c.6584C>G (p.Thr2195Ser)
c.6860C>G (p.Thr2287Ser)
c.6857C>G (p.Thr2286Ser)
n.7295C>G
c.6992C>G (p.Thr2331Ser)
c.6989C>G (p.Thr2330Ser)
c.6971C>G (p.Thr2324Ser)
c.6881C>G (p.Thr2294Ser)
c.6743C>G (p.Thr2248Ser)
Xg.53568788G=CA2429880762HUWE1c.6608C= (p.Thr2203=)
c.6611C= (p.Thr2204=)
c.6584C= (p.Thr2195=)
c.6860C= (p.Thr2287=)
c.6857C= (p.Thr2286=)
n.7295C=
c.6992C= (p.Thr2331=)
c.6989C= (p.Thr2330=)
c.6971C= (p.Thr2324=)
c.6881C= (p.Thr2294=)
c.6743C= (p.Thr2248=)
Xg.53568788G>TCA413163643HUWE1c.6608C>A (p.Thr2203Asn)
c.6611C>A (p.Thr2204Asn)
c.6584C>A (p.Thr2195Asn)
c.6860C>A (p.Thr2287Asn)
c.6857C>A (p.Thr2286Asn)
n.7295C>A
c.6992C>A (p.Thr2331Asn)
c.6989C>A (p.Thr2330Asn)
c.6971C>A (p.Thr2324Asn)
c.6881C>A (p.Thr2294Asn)
c.6743C>A (p.Thr2248Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53568789T>ACA413163644HUWE1c.6607A>T (p.Thr2203Ser)
c.6610A>T (p.Thr2204Ser)
c.6583A>T (p.Thr2195Ser)
c.6859A>T (p.Thr2287Ser)
c.6856A>T (p.Thr2286Ser)
n.7294A>T
c.6991A>T (p.Thr2331Ser)
c.6988A>T (p.Thr2330Ser)
c.6970A>T (p.Thr2324Ser)
c.6880A>T (p.Thr2294Ser)
c.6742A>T (p.Thr2248Ser)
Xg.53568789T>CCA413163647HUWE1c.6607A>G (p.Thr2203Ala)
c.6610A>G (p.Thr2204Ala)
c.6583A>G (p.Thr2195Ala)
c.6859A>G (p.Thr2287Ala)
c.6856A>G (p.Thr2286Ala)
n.7294A>G
c.6991A>G (p.Thr2331Ala)
c.6988A>G (p.Thr2330Ala)
c.6970A>G (p.Thr2324Ala)
c.6880A>G (p.Thr2294Ala)
c.6742A>G (p.Thr2248Ala)
Xg.53568789T>GCA413163655HUWE1c.6607A>C (p.Thr2203Pro)
c.6610A>C (p.Thr2204Pro)
c.6583A>C (p.Thr2195Pro)
c.6859A>C (p.Thr2287Pro)
c.6856A>C (p.Thr2286Pro)
n.7294A>C
c.6991A>C (p.Thr2331Pro)
c.6988A>C (p.Thr2330Pro)
c.6970A>C (p.Thr2324Pro)
c.6880A>C (p.Thr2294Pro)
c.6742A>C (p.Thr2248Pro)
Xg.53568790C>ACA413163656HUWE1c.6606G>T (p.Lys2202Asn)
c.6609G>T (p.Lys2203Asn)
c.6582G>T (p.Lys2194Asn)
c.6858G>T (p.Lys2286Asn)
c.6855G>T (p.Lys2285Asn)
n.7293G>T
c.6990G>T (p.Lys2330Asn)
c.6987G>T (p.Lys2329Asn)
c.6969G>T (p.Lys2323Asn)
c.6879G>T (p.Lys2293Asn)
c.6741G>T (p.Lys2247Asn)
Xg.53568790C=CA2429880763HUWE1c.6606G= (p.Lys2202=)
c.6609G= (p.Lys2203=)
c.6582G= (p.Lys2194=)
c.6858G= (p.Lys2286=)
c.6855G= (p.Lys2285=)
n.7293G=
c.6990G= (p.Lys2330=)
c.6987G= (p.Lys2329=)
c.6969G= (p.Lys2323=)
c.6879G= (p.Lys2293=)
c.6741G= (p.Lys2247=)
Xg.53568790C>GCA413163659HUWE1c.6606G>C (p.Lys2202Asn)
c.6609G>C (p.Lys2203Asn)
c.6582G>C (p.Lys2194Asn)
c.6858G>C (p.Lys2286Asn)
c.6855G>C (p.Lys2285Asn)
n.7293G>C
c.6990G>C (p.Lys2330Asn)
c.6987G>C (p.Lys2329Asn)
c.6969G>C (p.Lys2323Asn)
c.6879G>C (p.Lys2293Asn)
c.6741G>C (p.Lys2247Asn)
Xg.53568790C>TCA516433680HUWE1c.6606G>A (p.Lys2202=)
c.6609G>A (p.Lys2203=)
c.6582G>A (p.Lys2194=)
c.6858G>A (p.Lys2286=)
c.6855G>A (p.Lys2285=)
n.7293G>A
c.6990G>A (p.Lys2330=)
c.6987G>A (p.Lys2329=)
c.6969G>A (p.Lys2323=)
c.6879G>A (p.Lys2293=)
c.6741G>A (p.Lys2247=)
 dbSNP gnomAD v4
Xg.53568791T>ACA413163661HUWE1c.6605A>T (p.Lys2202Met)
c.6608A>T (p.Lys2203Met)
c.6581A>T (p.Lys2194Met)
c.6857A>T (p.Lys2286Met)
c.6854A>T (p.Lys2285Met)
n.7292A>T
c.6989A>T (p.Lys2330Met)
c.6986A>T (p.Lys2329Met)
c.6968A>T (p.Lys2323Met)
c.6878A>T (p.Lys2293Met)
c.6740A>T (p.Lys2247Met)
Xg.53568791T>CCA413163662HUWE1c.6605A>G (p.Lys2202Arg)
c.6608A>G (p.Lys2203Arg)
c.6581A>G (p.Lys2194Arg)
c.6857A>G (p.Lys2286Arg)
c.6854A>G (p.Lys2285Arg)
n.7292A>G
c.6989A>G (p.Lys2330Arg)
c.6986A>G (p.Lys2329Arg)
c.6968A>G (p.Lys2323Arg)
c.6878A>G (p.Lys2293Arg)
c.6740A>G (p.Lys2247Arg)
Xg.53568791T>GCA413163664HUWE1c.6605A>C (p.Lys2202Thr)
c.6608A>C (p.Lys2203Thr)
c.6581A>C (p.Lys2194Thr)
c.6857A>C (p.Lys2286Thr)
c.6854A>C (p.Lys2285Thr)
n.7292A>C
c.6989A>C (p.Lys2330Thr)
c.6986A>C (p.Lys2329Thr)
c.6968A>C (p.Lys2323Thr)
c.6878A>C (p.Lys2293Thr)
c.6740A>C (p.Lys2247Thr)
Xg.53568792T>ACA413163669HUWE1c.6604A>T (p.Lys2202Ter)
c.6607A>T (p.Lys2203Ter)
c.6580A>T (p.Lys2194Ter)
c.6856A>T (p.Lys2286Ter)
c.6853A>T (p.Lys2285Ter)
n.7291A>T
c.6988A>T (p.Lys2330Ter)
c.6985A>T (p.Lys2329Ter)
c.6967A>T (p.Lys2323Ter)
c.6877A>T (p.Lys2293Ter)
c.6739A>T (p.Lys2247Ter)
Xg.53568792T>CCA413163672HUWE1c.6604A>G (p.Lys2202Glu)
c.6607A>G (p.Lys2203Glu)
c.6580A>G (p.Lys2194Glu)
c.6856A>G (p.Lys2286Glu)
c.6853A>G (p.Lys2285Glu)
n.7291A>G
c.6988A>G (p.Lys2330Glu)
c.6985A>G (p.Lys2329Glu)
c.6967A>G (p.Lys2323Glu)
c.6877A>G (p.Lys2293Glu)
c.6739A>G (p.Lys2247Glu)
Xg.53568792T>GCA413163667HUWE1c.6604A>C (p.Lys2202Gln)
c.6607A>C (p.Lys2203Gln)
c.6580A>C (p.Lys2194Gln)
c.6856A>C (p.Lys2286Gln)
c.6853A>C (p.Lys2285Gln)
n.7291A>C
c.6988A>C (p.Lys2330Gln)
c.6985A>C (p.Lys2329Gln)
c.6967A>C (p.Lys2323Gln)
c.6877A>C (p.Lys2293Gln)
c.6739A>C (p.Lys2247Gln)
Xg.53568793C>ACA516433683HUWE1c.6603G>T (p.Ala2201=)
c.6606G>T (p.Ala2202=)
c.6579G>T (p.Ala2193=)
c.6855G>T (p.Ala2285=)
c.6852G>T (p.Ala2284=)
n.7290G>T
c.6987G>T (p.Ala2329=)
c.6984G>T (p.Ala2328=)
c.6966G>T (p.Ala2322=)
c.6876G>T (p.Ala2292=)
c.6738G>T (p.Ala2246=)
Xg.53568793C=CA2429880764HUWE1c.6603G= (p.Ala2201=)
c.6606G= (p.Ala2202=)
c.6579G= (p.Ala2193=)
c.6855G= (p.Ala2285=)
c.6852G= (p.Ala2284=)
n.7290G=
c.6987G= (p.Ala2329=)
c.6984G= (p.Ala2328=)
c.6966G= (p.Ala2322=)
c.6876G= (p.Ala2292=)
c.6738G= (p.Ala2246=)
Xg.53568793C>GCA516433682HUWE1c.6603G>C (p.Ala2201=)
c.6606G>C (p.Ala2202=)
c.6579G>C (p.Ala2193=)
c.6855G>C (p.Ala2285=)
c.6852G>C (p.Ala2284=)
n.7290G>C
c.6987G>C (p.Ala2329=)
c.6984G>C (p.Ala2328=)
c.6966G>C (p.Ala2322=)
c.6876G>C (p.Ala2292=)
c.6738G>C (p.Ala2246=)
 gnomAD v4
Xg.53568793C>TCA10422068HUWE1c.6603G>A (p.Ala2201=)
c.6606G>A (p.Ala2202=)
c.6579G>A (p.Ala2193=)
c.6855G>A (p.Ala2285=)
c.6852G>A (p.Ala2284=)
n.7290G>A
c.6987G>A (p.Ala2329=)
c.6984G>A (p.Ala2328=)
c.6966G>A (p.Ala2322=)
c.6876G>A (p.Ala2292=)
c.6738G>A (p.Ala2246=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53568794G>ACA413163677HUWE1c.6602C>T (p.Ala2201Val)
c.6605C>T (p.Ala2202Val)
c.6578C>T (p.Ala2193Val)
c.6854C>T (p.Ala2285Val)
c.6851C>T (p.Ala2284Val)
n.7289C>T
c.6986C>T (p.Ala2329Val)
c.6983C>T (p.Ala2328Val)
c.6965C>T (p.Ala2322Val)
c.6875C>T (p.Ala2292Val)
c.6737C>T (p.Ala2246Val)
 gnomAD v4
Xg.53568794G>CCA413163681HUWE1c.6602C>G (p.Ala2201Gly)
c.6605C>G (p.Ala2202Gly)
c.6578C>G (p.Ala2193Gly)
c.6854C>G (p.Ala2285Gly)
c.6851C>G (p.Ala2284Gly)
n.7289C>G
c.6986C>G (p.Ala2329Gly)
c.6983C>G (p.Ala2328Gly)
c.6965C>G (p.Ala2322Gly)
c.6875C>G (p.Ala2292Gly)
c.6737C>G (p.Ala2246Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53568794G=CA2429880765HUWE1c.6602C= (p.Ala2201=)
c.6605C= (p.Ala2202=)
c.6578C= (p.Ala2193=)
c.6854C= (p.Ala2285=)
c.6851C= (p.Ala2284=)
n.7289C=
c.6986C= (p.Ala2329=)
c.6983C= (p.Ala2328=)
c.6965C= (p.Ala2322=)
c.6875C= (p.Ala2292=)
c.6737C= (p.Ala2246=)
Xg.53568794G>TCA413163684HUWE1c.6602C>A (p.Ala2201Glu)
c.6605C>A (p.Ala2202Glu)
c.6578C>A (p.Ala2193Glu)
c.6854C>A (p.Ala2285Glu)
c.6851C>A (p.Ala2284Glu)
n.7289C>A
c.6986C>A (p.Ala2329Glu)
c.6983C>A (p.Ala2328Glu)
c.6965C>A (p.Ala2322Glu)
c.6875C>A (p.Ala2292Glu)
c.6737C>A (p.Ala2246Glu)
 dbSNP gnomAD v2 gnomAD v4
Xg.53568795C>ACA413163686HUWE1c.6601G>T (p.Ala2201Ser)
c.6604G>T (p.Ala2202Ser)
c.6577G>T (p.Ala2193Ser)
c.6853G>T (p.Ala2285Ser)
c.6850G>T (p.Ala2284Ser)
n.7288G>T
c.6985G>T (p.Ala2329Ser)
c.6982G>T (p.Ala2328Ser)
c.6964G>T (p.Ala2322Ser)
c.6874G>T (p.Ala2292Ser)
c.6736G>T (p.Ala2246Ser)
Xg.53568795C>GCA413163688HUWE1c.6601G>C (p.Ala2201Pro)
c.6604G>C (p.Ala2202Pro)
c.6577G>C (p.Ala2193Pro)
c.6853G>C (p.Ala2285Pro)
c.6850G>C (p.Ala2284Pro)
n.7288G>C
c.6985G>C (p.Ala2329Pro)
c.6982G>C (p.Ala2328Pro)
c.6964G>C (p.Ala2322Pro)
c.6874G>C (p.Ala2292Pro)
c.6736G>C (p.Ala2246Pro)
Xg.53568795C>TCA413163691HUWE1c.6601G>A (p.Ala2201Thr)
c.6604G>A (p.Ala2202Thr)
c.6577G>A (p.Ala2193Thr)
c.6853G>A (p.Ala2285Thr)
c.6850G>A (p.Ala2284Thr)
n.7288G>A
c.6985G>A (p.Ala2329Thr)
c.6982G>A (p.Ala2328Thr)
c.6964G>A (p.Ala2322Thr)
c.6874G>A (p.Ala2292Thr)
c.6736G>A (p.Ala2246Thr)
Xg.53568796T>ACA516433688HUWE1c.6600A>T (p.Thr2200=)
c.6603A>T (p.Thr2201=)
c.6576A>T (p.Thr2192=)
c.6852A>T (p.Thr2284=)
c.6849A>T (p.Thr2283=)
n.7287A>T
c.6984A>T (p.Thr2328=)
c.6981A>T (p.Thr2327=)
c.6963A>T (p.Thr2321=)
c.6873A>T (p.Thr2291=)
c.6735A>T (p.Thr2245=)
Xg.53568796T>CCA516433691HUWE1c.6600A>G (p.Thr2200=)
c.6603A>G (p.Thr2201=)
c.6576A>G (p.Thr2192=)
c.6852A>G (p.Thr2284=)
c.6849A>G (p.Thr2283=)
n.7287A>G
c.6984A>G (p.Thr2328=)
c.6981A>G (p.Thr2327=)
c.6963A>G (p.Thr2321=)
c.6873A>G (p.Thr2291=)
c.6735A>G (p.Thr2245=)
Xg.53568796T>GCA516433690HUWE1c.6600A>C (p.Thr2200=)
c.6603A>C (p.Thr2201=)
c.6576A>C (p.Thr2192=)
c.6852A>C (p.Thr2284=)
c.6849A>C (p.Thr2283=)
n.7287A>C
c.6984A>C (p.Thr2328=)
c.6981A>C (p.Thr2327=)
c.6963A>C (p.Thr2321=)
c.6873A>C (p.Thr2291=)
c.6735A>C (p.Thr2245=)
Xg.53568797G>ACA413163693HUWE1c.6599C>T (p.Thr2200Ile)
c.6602C>T (p.Thr2201Ile)
c.6575C>T (p.Thr2192Ile)
c.6851C>T (p.Thr2284Ile)
c.6848C>T (p.Thr2283Ile)
n.7286C>T
c.6983C>T (p.Thr2328Ile)
c.6980C>T (p.Thr2327Ile)
c.6962C>T (p.Thr2321Ile)
c.6872C>T (p.Thr2291Ile)
c.6734C>T (p.Thr2245Ile)
Xg.53568797G>CCA413163703HUWE1c.6599C>G (p.Thr2200Arg)
c.6602C>G (p.Thr2201Arg)
c.6575C>G (p.Thr2192Arg)
c.6851C>G (p.Thr2284Arg)
c.6848C>G (p.Thr2283Arg)
n.7286C>G
c.6983C>G (p.Thr2328Arg)
c.6980C>G (p.Thr2327Arg)
c.6962C>G (p.Thr2321Arg)
c.6872C>G (p.Thr2291Arg)
c.6734C>G (p.Thr2245Arg)
Xg.53568797G>TCA413163706HUWE1c.6599C>A (p.Thr2200Lys)
c.6602C>A (p.Thr2201Lys)
c.6575C>A (p.Thr2192Lys)
c.6851C>A (p.Thr2284Lys)
c.6848C>A (p.Thr2283Lys)
n.7286C>A
c.6983C>A (p.Thr2328Lys)
c.6980C>A (p.Thr2327Lys)
c.6962C>A (p.Thr2321Lys)
c.6872C>A (p.Thr2291Lys)
c.6734C>A (p.Thr2245Lys)
Xg.53568798T>ACA413163710HUWE1c.6598A>T (p.Thr2200Ser)
c.6601A>T (p.Thr2201Ser)
c.6574A>T (p.Thr2192Ser)
c.6850A>T (p.Thr2284Ser)
c.6847A>T (p.Thr2283Ser)
n.7285A>T
c.6982A>T (p.Thr2328Ser)
c.6979A>T (p.Thr2327Ser)
c.6961A>T (p.Thr2321Ser)
c.6871A>T (p.Thr2291Ser)
c.6733A>T (p.Thr2245Ser)
Xg.53568798T>CCA10422069HUWE1c.6598A>G (p.Thr2200Ala)
c.6601A>G (p.Thr2201Ala)
c.6574A>G (p.Thr2192Ala)
c.6850A>G (p.Thr2284Ala)
c.6847A>G (p.Thr2283Ala)
n.7285A>G
c.6982A>G (p.Thr2328Ala)
c.6979A>G (p.Thr2327Ala)
c.6961A>G (p.Thr2321Ala)
c.6871A>G (p.Thr2291Ala)
c.6733A>G (p.Thr2245Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53568798T>GCA413163715HUWE1c.6598A>C (p.Thr2200Pro)
c.6601A>C (p.Thr2201Pro)
c.6574A>C (p.Thr2192Pro)
c.6850A>C (p.Thr2284Pro)
c.6847A>C (p.Thr2283Pro)
n.7285A>C
c.6982A>C (p.Thr2328Pro)
c.6979A>C (p.Thr2327Pro)
c.6961A>C (p.Thr2321Pro)
c.6871A>C (p.Thr2291Pro)
c.6733A>C (p.Thr2245Pro)
Xg.53568798T=CA2429880766HUWE1c.6598A= (p.Thr2200=)
c.6601A= (p.Thr2201=)
c.6574A= (p.Thr2192=)
c.6850A= (p.Thr2284=)
c.6847A= (p.Thr2283=)
n.7285A=
c.6982A= (p.Thr2328=)
c.6979A= (p.Thr2327=)
c.6961A= (p.Thr2321=)
c.6871A= (p.Thr2291=)
c.6733A= (p.Thr2245=)
Xg.53568799G>ACA10422070HUWE1c.6597C>T (p.Ala2199=)
c.6600C>T (p.Ala2200=)
c.6573C>T (p.Ala2191=)
c.6849C>T (p.Ala2283=)
c.6846C>T (p.Ala2282=)
n.7284C>T
c.6981C>T (p.Ala2327=)
c.6978C>T (p.Ala2326=)
c.6960C>T (p.Ala2320=)
c.6870C>T (p.Ala2290=)
c.6732C>T (p.Ala2244=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53568799G>CCA516433697HUWE1c.6597C>G (p.Ala2199=)
c.6600C>G (p.Ala2200=)
c.6573C>G (p.Ala2191=)
c.6849C>G (p.Ala2283=)
c.6846C>G (p.Ala2282=)
n.7284C>G
c.6981C>G (p.Ala2327=)
c.6978C>G (p.Ala2326=)
c.6960C>G (p.Ala2320=)
c.6870C>G (p.Ala2290=)
c.6732C>G (p.Ala2244=)
Xg.53568799G=CA2429880767HUWE1c.6597C= (p.Ala2199=)
c.6600C= (p.Ala2200=)
c.6573C= (p.Ala2191=)
c.6849C= (p.Ala2283=)
c.6846C= (p.Ala2282=)
n.7284C=
c.6981C= (p.Ala2327=)
c.6978C= (p.Ala2326=)
c.6960C= (p.Ala2320=)
c.6870C= (p.Ala2290=)
c.6732C= (p.Ala2244=)
Xg.53568799G>TCA516433698HUWE1c.6597C>A (p.Ala2199=)
c.6600C>A (p.Ala2200=)
c.6573C>A (p.Ala2191=)
c.6849C>A (p.Ala2283=)
c.6846C>A (p.Ala2282=)
n.7284C>A
c.6981C>A (p.Ala2327=)
c.6978C>A (p.Ala2326=)
c.6960C>A (p.Ala2320=)
c.6870C>A (p.Ala2290=)
c.6732C>A (p.Ala2244=)
Xg.53568800G>ACA413163722HUWE1c.6596C>T (p.Ala2199Val)
c.6599C>T (p.Ala2200Val)
c.6572C>T (p.Ala2191Val)
c.6848C>T (p.Ala2283Val)
c.6845C>T (p.Ala2282Val)
n.7283C>T
c.6980C>T (p.Ala2327Val)
c.6977C>T (p.Ala2326Val)
c.6959C>T (p.Ala2320Val)
c.6869C>T (p.Ala2290Val)
c.6731C>T (p.Ala2244Val)
Xg.53568800G>CCA413163724HUWE1c.6596C>G (p.Ala2199Gly)
c.6599C>G (p.Ala2200Gly)
c.6572C>G (p.Ala2191Gly)
c.6848C>G (p.Ala2283Gly)
c.6845C>G (p.Ala2282Gly)
n.7283C>G
c.6980C>G (p.Ala2327Gly)
c.6977C>G (p.Ala2326Gly)
c.6959C>G (p.Ala2320Gly)
c.6869C>G (p.Ala2290Gly)
c.6731C>G (p.Ala2244Gly)
Xg.53568800G>TCA413163726HUWE1c.6596C>A (p.Ala2199Asp)
c.6599C>A (p.Ala2200Asp)
c.6572C>A (p.Ala2191Asp)
c.6848C>A (p.Ala2283Asp)
c.6845C>A (p.Ala2282Asp)
n.7283C>A
c.6980C>A (p.Ala2327Asp)
c.6977C>A (p.Ala2326Asp)
c.6959C>A (p.Ala2320Asp)
c.6869C>A (p.Ala2290Asp)
c.6731C>A (p.Ala2244Asp)
Xg.53568801C>ACA413163729HUWE1c.6595G>T (p.Ala2199Ser)
c.6598G>T (p.Ala2200Ser)
c.6571G>T (p.Ala2191Ser)
c.6847G>T (p.Ala2283Ser)
c.6844G>T (p.Ala2282Ser)
n.7282G>T
c.6979G>T (p.Ala2327Ser)
c.6976G>T (p.Ala2326Ser)
c.6958G>T (p.Ala2320Ser)
c.6868G>T (p.Ala2290Ser)
c.6730G>T (p.Ala2244Ser)
Xg.53568801C>GCA413163731HUWE1c.6595G>C (p.Ala2199Pro)
c.6598G>C (p.Ala2200Pro)
c.6571G>C (p.Ala2191Pro)
c.6847G>C (p.Ala2283Pro)
c.6844G>C (p.Ala2282Pro)
n.7282G>C
c.6979G>C (p.Ala2327Pro)
c.6976G>C (p.Ala2326Pro)
c.6958G>C (p.Ala2320Pro)
c.6868G>C (p.Ala2290Pro)
c.6730G>C (p.Ala2244Pro)
Xg.53568801C>TCA413163733HUWE1c.6595G>A (p.Ala2199Thr)
c.6598G>A (p.Ala2200Thr)
c.6571G>A (p.Ala2191Thr)
c.6847G>A (p.Ala2283Thr)
c.6844G>A (p.Ala2282Thr)
n.7282G>A
c.6979G>A (p.Ala2327Thr)
c.6976G>A (p.Ala2326Thr)
c.6958G>A (p.Ala2320Thr)
c.6868G>A (p.Ala2290Thr)
c.6730G>A (p.Ala2244Thr)
Xg.53568802A>CCA413163735HUWE1c.6594T>G (p.Ser2198Arg)
c.6597T>G (p.Ser2199Arg)
c.6570T>G (p.Ser2190Arg)
c.6846T>G (p.Ser2282Arg)
c.6843T>G (p.Ser2281Arg)
n.7281T>G
c.6978T>G (p.Ser2326Arg)
c.6975T>G (p.Ser2325Arg)
c.6957T>G (p.Ser2319Arg)
c.6867T>G (p.Ser2289Arg)
c.6729T>G (p.Ser2243Arg)
Xg.53568802A>GCA516433704HUWE1c.6594T>C (p.Ser2198=)
c.6597T>C (p.Ser2199=)
c.6570T>C (p.Ser2190=)
c.6846T>C (p.Ser2282=)
c.6843T>C (p.Ser2281=)
n.7281T>C
c.6978T>C (p.Ser2326=)
c.6975T>C (p.Ser2325=)
c.6957T>C (p.Ser2319=)
c.6867T>C (p.Ser2289=)
c.6729T>C (p.Ser2243=)
 gnomAD v4
Xg.53568802A>TCA413163737HUWE1c.6594T>A (p.Ser2198Arg)
c.6597T>A (p.Ser2199Arg)
c.6570T>A (p.Ser2190Arg)
c.6846T>A (p.Ser2282Arg)
c.6843T>A (p.Ser2281Arg)
n.7281T>A
c.6978T>A (p.Ser2326Arg)
c.6975T>A (p.Ser2325Arg)
c.6957T>A (p.Ser2319Arg)
c.6867T>A (p.Ser2289Arg)
c.6729T>A (p.Ser2243Arg)
Xg.53568803C>ACA413163742HUWE1c.6593G>T (p.Ser2198Ile)
c.6596G>T (p.Ser2199Ile)
c.6569G>T (p.Ser2190Ile)
c.6845G>T (p.Ser2282Ile)
c.6842G>T (p.Ser2281Ile)
n.7280G>T
c.6977G>T (p.Ser2326Ile)
c.6974G>T (p.Ser2325Ile)
c.6956G>T (p.Ser2319Ile)
c.6866G>T (p.Ser2289Ile)
c.6728G>T (p.Ser2243Ile)
Xg.53568803C>GCA413163744HUWE1c.6593G>C (p.Ser2198Thr)
c.6596G>C (p.Ser2199Thr)
c.6569G>C (p.Ser2190Thr)
c.6845G>C (p.Ser2282Thr)
c.6842G>C (p.Ser2281Thr)
n.7280G>C
c.6977G>C (p.Ser2326Thr)
c.6974G>C (p.Ser2325Thr)
c.6956G>C (p.Ser2319Thr)
c.6866G>C (p.Ser2289Thr)
c.6728G>C (p.Ser2243Thr)
Xg.53568803C>TCA413163746HUWE1c.6593G>A (p.Ser2198Asn)
c.6596G>A (p.Ser2199Asn)
c.6569G>A (p.Ser2190Asn)
c.6845G>A (p.Ser2282Asn)
c.6842G>A (p.Ser2281Asn)
n.7280G>A
c.6977G>A (p.Ser2326Asn)
c.6974G>A (p.Ser2325Asn)
c.6956G>A (p.Ser2319Asn)
c.6866G>A (p.Ser2289Asn)
c.6728G>A (p.Ser2243Asn)
Xg.53568804T>ACA413163749HUWE1c.6592A>T (p.Ser2198Cys)
c.6595A>T (p.Ser2199Cys)
c.6568A>T (p.Ser2190Cys)
c.6844A>T (p.Ser2282Cys)
c.6841A>T (p.Ser2281Cys)
n.7279A>T
c.6976A>T (p.Ser2326Cys)
c.6973A>T (p.Ser2325Cys)
c.6955A>T (p.Ser2319Cys)
c.6865A>T (p.Ser2289Cys)
c.6727A>T (p.Ser2243Cys)
Xg.53568804T>CCA413163752HUWE1c.6592A>G (p.Ser2198Gly)
c.6595A>G (p.Ser2199Gly)
c.6568A>G (p.Ser2190Gly)
c.6844A>G (p.Ser2282Gly)
c.6841A>G (p.Ser2281Gly)
n.7279A>G
c.6976A>G (p.Ser2326Gly)
c.6973A>G (p.Ser2325Gly)
c.6955A>G (p.Ser2319Gly)
c.6865A>G (p.Ser2289Gly)
c.6727A>G (p.Ser2243Gly)
Xg.53568804T>GCA413163758HUWE1c.6592A>C (p.Ser2198Arg)
c.6595A>C (p.Ser2199Arg)
c.6568A>C (p.Ser2190Arg)
c.6844A>C (p.Ser2282Arg)
c.6841A>C (p.Ser2281Arg)
n.7279A>C
c.6976A>C (p.Ser2326Arg)
c.6973A>C (p.Ser2325Arg)
c.6955A>C (p.Ser2319Arg)
c.6865A>C (p.Ser2289Arg)
c.6727A>C (p.Ser2243Arg)
 gnomAD v4
Xg.53568805G>ACA516433711HUWE1c.6591C>T (p.Ser2197=)
c.6594C>T (p.Ser2198=)
c.6567C>T (p.Ser2189=)
c.6843C>T (p.Ser2281=)
c.6840C>T (p.Ser2280=)
n.7278C>T
c.6975C>T (p.Ser2325=)
c.6972C>T (p.Ser2324=)
c.6954C>T (p.Ser2318=)
c.6864C>T (p.Ser2288=)
c.6726C>T (p.Ser2242=)
Xg.53568805G>CCA413163779HUWE1c.6591C>G (p.Ser2197Arg)
c.6594C>G (p.Ser2198Arg)
c.6567C>G (p.Ser2189Arg)
c.6843C>G (p.Ser2281Arg)
c.6840C>G (p.Ser2280Arg)
n.7278C>G
c.6975C>G (p.Ser2325Arg)
c.6972C>G (p.Ser2324Arg)
c.6954C>G (p.Ser2318Arg)
c.6864C>G (p.Ser2288Arg)
c.6726C>G (p.Ser2242Arg)
Xg.53568805G>TCA413163782HUWE1c.6591C>A (p.Ser2197Arg)
c.6594C>A (p.Ser2198Arg)
c.6567C>A (p.Ser2189Arg)
c.6843C>A (p.Ser2281Arg)
c.6840C>A (p.Ser2280Arg)
n.7278C>A
c.6975C>A (p.Ser2325Arg)
c.6972C>A (p.Ser2324Arg)
c.6954C>A (p.Ser2318Arg)
c.6864C>A (p.Ser2288Arg)
c.6726C>A (p.Ser2242Arg)
Xg.53568806C>ACA413163789HUWE1c.6590G>T (p.Ser2197Ile)
c.6593G>T (p.Ser2198Ile)
c.6566G>T (p.Ser2189Ile)
c.6842G>T (p.Ser2281Ile)
c.6839G>T (p.Ser2280Ile)
n.7277G>T
c.6974G>T (p.Ser2325Ile)
c.6971G>T (p.Ser2324Ile)
c.6953G>T (p.Ser2318Ile)
c.6863G>T (p.Ser2288Ile)
c.6725G>T (p.Ser2242Ile)
Xg.53568806C>GCA413163793HUWE1c.6590G>C (p.Ser2197Thr)
c.6593G>C (p.Ser2198Thr)
c.6566G>C (p.Ser2189Thr)
c.6842G>C (p.Ser2281Thr)
c.6839G>C (p.Ser2280Thr)
n.7277G>C
c.6974G>C (p.Ser2325Thr)
c.6971G>C (p.Ser2324Thr)
c.6953G>C (p.Ser2318Thr)
c.6863G>C (p.Ser2288Thr)
c.6725G>C (p.Ser2242Thr)
Xg.53568806C>TCA413163791HUWE1c.6590G>A (p.Ser2197Asn)
c.6593G>A (p.Ser2198Asn)
c.6566G>A (p.Ser2189Asn)
c.6842G>A (p.Ser2281Asn)
c.6839G>A (p.Ser2280Asn)
n.7277G>A
c.6974G>A (p.Ser2325Asn)
c.6971G>A (p.Ser2324Asn)
c.6953G>A (p.Ser2318Asn)
c.6863G>A (p.Ser2288Asn)
c.6725G>A (p.Ser2242Asn)
Xg.53568807T>ACA413163798HUWE1c.6589A>T (p.Ser2197Cys)
c.6592A>T (p.Ser2198Cys)
c.6565A>T (p.Ser2189Cys)
c.6841A>T (p.Ser2281Cys)
c.6838A>T (p.Ser2280Cys)
n.7276A>T
c.6973A>T (p.Ser2325Cys)
c.6970A>T (p.Ser2324Cys)
c.6952A>T (p.Ser2318Cys)
c.6862A>T (p.Ser2288Cys)
c.6724A>T (p.Ser2242Cys)
Xg.53568807T>CCA413163805HUWE1c.6589A>G (p.Ser2197Gly)
c.6592A>G (p.Ser2198Gly)
c.6565A>G (p.Ser2189Gly)
c.6841A>G (p.Ser2281Gly)
c.6838A>G (p.Ser2280Gly)
n.7276A>G
c.6973A>G (p.Ser2325Gly)
c.6970A>G (p.Ser2324Gly)
c.6952A>G (p.Ser2318Gly)
c.6862A>G (p.Ser2288Gly)
c.6724A>G (p.Ser2242Gly)
 gnomAD v4
Xg.53568807T>GCA413163807HUWE1c.6589A>C (p.Ser2197Arg)
c.6592A>C (p.Ser2198Arg)
c.6565A>C (p.Ser2189Arg)
c.6841A>C (p.Ser2281Arg)
c.6838A>C (p.Ser2280Arg)
n.7276A>C
c.6973A>C (p.Ser2325Arg)
c.6970A>C (p.Ser2324Arg)
c.6952A>C (p.Ser2318Arg)
c.6862A>C (p.Ser2288Arg)
c.6724A>C (p.Ser2242Arg)
Xg.53568808G>ACA516433718HUWE1c.6588C>T (p.Tyr2196=)
c.6591C>T (p.Tyr2197=)
c.6564C>T (p.Tyr2188=)
c.6840C>T (p.Tyr2280=)
c.6837C>T (p.Tyr2279=)
n.7275C>T
c.6972C>T (p.Tyr2324=)
c.6969C>T (p.Tyr2323=)
c.6951C>T (p.Tyr2317=)
c.6861C>T (p.Tyr2287=)
c.6723C>T (p.Tyr2241=)
Xg.53568808G>CCA413163810HUWE1c.6588C>G (p.Tyr2196Ter)
c.6591C>G (p.Tyr2197Ter)
c.6564C>G (p.Tyr2188Ter)
c.6840C>G (p.Tyr2280Ter)
c.6837C>G (p.Tyr2279Ter)
n.7275C>G
c.6972C>G (p.Tyr2324Ter)
c.6969C>G (p.Tyr2323Ter)
c.6951C>G (p.Tyr2317Ter)
c.6861C>G (p.Tyr2287Ter)
c.6723C>G (p.Tyr2241Ter)
Xg.53568808G>TCA413163812HUWE1c.6588C>A (p.Tyr2196Ter)
c.6591C>A (p.Tyr2197Ter)
c.6564C>A (p.Tyr2188Ter)
c.6840C>A (p.Tyr2280Ter)
c.6837C>A (p.Tyr2279Ter)
n.7275C>A
c.6972C>A (p.Tyr2324Ter)
c.6969C>A (p.Tyr2323Ter)
c.6951C>A (p.Tyr2317Ter)
c.6861C>A (p.Tyr2287Ter)
c.6723C>A (p.Tyr2241Ter)
Xg.53568809_53568814delCA2693816111HUWE1c.6583_6588del (p.Phe2195_Tyr2196del)
c.6586_6591del (p.Phe2196_Tyr2197del)
c.6559_6564del (p.Phe2187_Tyr2188del)
c.6835_6840del (p.Phe2279_Tyr2280del)
c.6832_6837del (p.Phe2278_Tyr2279del)
n.7270_7275del
c.6967_6972del (p.Phe2323_Tyr2324del)
c.6964_6969del (p.Phe2322_Tyr2323del)
c.6946_6951del (p.Phe2316_Tyr2317del)
c.6856_6861del (p.Phe2286_Tyr2287del)
c.6718_6723del (p.Phe2240_Tyr2241del)
 gnomAD v4
Xg.53568809T>ACA413163815HUWE1c.6587A>T (p.Tyr2196Phe)
c.6590A>T (p.Tyr2197Phe)
c.6563A>T (p.Tyr2188Phe)
c.6839A>T (p.Tyr2280Phe)
c.6836A>T (p.Tyr2279Phe)
n.7274A>T
c.6971A>T (p.Tyr2324Phe)
c.6968A>T (p.Tyr2323Phe)
c.6950A>T (p.Tyr2317Phe)
c.6860A>T (p.Tyr2287Phe)
c.6722A>T (p.Tyr2241Phe)
Xg.53568809T>CCA413163819HUWE1c.6587A>G (p.Tyr2196Cys)
c.6590A>G (p.Tyr2197Cys)
c.6563A>G (p.Tyr2188Cys)
c.6839A>G (p.Tyr2280Cys)
c.6836A>G (p.Tyr2279Cys)
n.7274A>G
c.6971A>G (p.Tyr2324Cys)
c.6968A>G (p.Tyr2323Cys)
c.6950A>G (p.Tyr2317Cys)
c.6860A>G (p.Tyr2287Cys)
c.6722A>G (p.Tyr2241Cys)
 dbSNP gnomAD v4
Xg.53568809T>GCA413163821HUWE1c.6587A>C (p.Tyr2196Ser)
c.6590A>C (p.Tyr2197Ser)
c.6563A>C (p.Tyr2188Ser)
c.6839A>C (p.Tyr2280Ser)
c.6836A>C (p.Tyr2279Ser)
n.7274A>C
c.6971A>C (p.Tyr2324Ser)
c.6968A>C (p.Tyr2323Ser)
c.6950A>C (p.Tyr2317Ser)
c.6860A>C (p.Tyr2287Ser)
c.6722A>C (p.Tyr2241Ser)
Xg.53568809T=CA2429880768HUWE1c.6587A= (p.Tyr2196=)
c.6590A= (p.Tyr2197=)
c.6563A= (p.Tyr2188=)
c.6839A= (p.Tyr2280=)
c.6836A= (p.Tyr2279=)
n.7274A=
c.6971A= (p.Tyr2324=)
c.6968A= (p.Tyr2323=)
c.6950A= (p.Tyr2317=)
c.6860A= (p.Tyr2287=)
c.6722A= (p.Tyr2241=)
Xg.53568810A>CCA413163839HUWE1c.6586T>G (p.Tyr2196Asp)
c.6589T>G (p.Tyr2197Asp)
c.6562T>G (p.Tyr2188Asp)
c.6838T>G (p.Tyr2280Asp)
c.6835T>G (p.Tyr2279Asp)
n.7273T>G
c.6970T>G (p.Tyr2324Asp)
c.6967T>G (p.Tyr2323Asp)
c.6949T>G (p.Tyr2317Asp)
c.6859T>G (p.Tyr2287Asp)
c.6721T>G (p.Tyr2241Asp)
Xg.53568810A>GCA413163844HUWE1c.6586T>C (p.Tyr2196His)
c.6589T>C (p.Tyr2197His)
c.6562T>C (p.Tyr2188His)
c.6838T>C (p.Tyr2280His)
c.6835T>C (p.Tyr2279His)
n.7273T>C
c.6970T>C (p.Tyr2324His)
c.6967T>C (p.Tyr2323His)
c.6949T>C (p.Tyr2317His)
c.6859T>C (p.Tyr2287His)
c.6721T>C (p.Tyr2241His)
Xg.53568810A>TCA413163848HUWE1c.6586T>A (p.Tyr2196Asn)
c.6589T>A (p.Tyr2197Asn)
c.6562T>A (p.Tyr2188Asn)
c.6838T>A (p.Tyr2280Asn)
c.6835T>A (p.Tyr2279Asn)
n.7273T>A
c.6970T>A (p.Tyr2324Asn)
c.6967T>A (p.Tyr2323Asn)
c.6949T>A (p.Tyr2317Asn)
c.6859T>A (p.Tyr2287Asn)
c.6721T>A (p.Tyr2241Asn)
Xg.53568811G>ACA516433724HUWE1c.6585C>T (p.Phe2195=)
c.6588C>T (p.Phe2196=)
c.6561C>T (p.Phe2187=)
c.6837C>T (p.Phe2279=)
c.6834C>T (p.Phe2278=)
n.7272C>T
c.6969C>T (p.Phe2323=)
c.6966C>T (p.Phe2322=)
c.6948C>T (p.Phe2316=)
c.6858C>T (p.Phe2286=)
c.6720C>T (p.Phe2240=)
 gnomAD v4
Xg.53568811G>CCA413163855HUWE1c.6585C>G (p.Phe2195Leu)
c.6588C>G (p.Phe2196Leu)
c.6561C>G (p.Phe2187Leu)
c.6837C>G (p.Phe2279Leu)
c.6834C>G (p.Phe2278Leu)
n.7272C>G
c.6969C>G (p.Phe2323Leu)
c.6966C>G (p.Phe2322Leu)
c.6948C>G (p.Phe2316Leu)
c.6858C>G (p.Phe2286Leu)
c.6720C>G (p.Phe2240Leu)
Xg.53568811G>TCA413163854HUWE1c.6585C>A (p.Phe2195Leu)
c.6588C>A (p.Phe2196Leu)
c.6561C>A (p.Phe2187Leu)
c.6837C>A (p.Phe2279Leu)
c.6834C>A (p.Phe2278Leu)
n.7272C>A
c.6969C>A (p.Phe2323Leu)
c.6966C>A (p.Phe2322Leu)
c.6948C>A (p.Phe2316Leu)
c.6858C>A (p.Phe2286Leu)
c.6720C>A (p.Phe2240Leu)
Xg.53568812A>CCA413163857HUWE1c.6584T>G (p.Phe2195Cys)
c.6587T>G (p.Phe2196Cys)
c.6560T>G (p.Phe2187Cys)
c.6836T>G (p.Phe2279Cys)
c.6833T>G (p.Phe2278Cys)
n.7271T>G
c.6968T>G (p.Phe2323Cys)
c.6965T>G (p.Phe2322Cys)
c.6947T>G (p.Phe2316Cys)
c.6857T>G (p.Phe2286Cys)
c.6719T>G (p.Phe2240Cys)
 gnomAD v4
Xg.53568812A>GCA413163858HUWE1c.6584T>C (p.Phe2195Ser)
c.6587T>C (p.Phe2196Ser)
c.6560T>C (p.Phe2187Ser)
c.6836T>C (p.Phe2279Ser)
c.6833T>C (p.Phe2278Ser)
n.7271T>C
c.6968T>C (p.Phe2323Ser)
c.6965T>C (p.Phe2322Ser)
c.6947T>C (p.Phe2316Ser)
c.6857T>C (p.Phe2286Ser)
c.6719T>C (p.Phe2240Ser)
Xg.53568812A>TCA413163859HUWE1c.6584T>A (p.Phe2195Tyr)
c.6587T>A (p.Phe2196Tyr)
c.6560T>A (p.Phe2187Tyr)
c.6836T>A (p.Phe2279Tyr)
c.6833T>A (p.Phe2278Tyr)
n.7271T>A
c.6968T>A (p.Phe2323Tyr)
c.6965T>A (p.Phe2322Tyr)
c.6947T>A (p.Phe2316Tyr)
c.6857T>A (p.Phe2286Tyr)
c.6719T>A (p.Phe2240Tyr)
Xg.53568813A>CCA413163861HUWE1c.6583T>G (p.Phe2195Val)
c.6586T>G (p.Phe2196Val)
c.6559T>G (p.Phe2187Val)
c.6835T>G (p.Phe2279Val)
c.6832T>G (p.Phe2278Val)
n.7270T>G
c.6967T>G (p.Phe2323Val)
c.6964T>G (p.Phe2322Val)
c.6946T>G (p.Phe2316Val)
c.6856T>G (p.Phe2286Val)
c.6718T>G (p.Phe2240Val)
Xg.53568813A>GCA413163863HUWE1c.6583T>C (p.Phe2195Leu)
c.6586T>C (p.Phe2196Leu)
c.6559T>C (p.Phe2187Leu)
c.6835T>C (p.Phe2279Leu)
c.6832T>C (p.Phe2278Leu)
n.7270T>C
c.6967T>C (p.Phe2323Leu)
c.6964T>C (p.Phe2322Leu)
c.6946T>C (p.Phe2316Leu)
c.6856T>C (p.Phe2286Leu)
c.6718T>C (p.Phe2240Leu)
Xg.53568813A>TCA413163866HUWE1c.6583T>A (p.Phe2195Ile)
c.6586T>A (p.Phe2196Ile)
c.6559T>A (p.Phe2187Ile)
c.6835T>A (p.Phe2279Ile)
c.6832T>A (p.Phe2278Ile)
n.7270T>A
c.6967T>A (p.Phe2323Ile)
c.6964T>A (p.Phe2322Ile)
c.6946T>A (p.Phe2316Ile)
c.6856T>A (p.Phe2286Ile)
c.6718T>A (p.Phe2240Ile)
Xg.53568814G>ACA516433732HUWE1c.6582C>T (p.Ser2194=)
c.6585C>T (p.Ser2195=)
c.6558C>T (p.Ser2186=)
c.6834C>T (p.Ser2278=)
c.6831C>T (p.Ser2277=)
n.7269C>T
c.6966C>T (p.Ser2322=)
c.6963C>T (p.Ser2321=)
c.6945C>T (p.Ser2315=)
c.6855C>T (p.Ser2285=)
c.6717C>T (p.Ser2239=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53568814G>CCA413163873HUWE1c.6582C>G (p.Ser2194Arg)
c.6585C>G (p.Ser2195Arg)
c.6558C>G (p.Ser2186Arg)
c.6834C>G (p.Ser2278Arg)
c.6831C>G (p.Ser2277Arg)
n.7269C>G
c.6966C>G (p.Ser2322Arg)
c.6963C>G (p.Ser2321Arg)
c.6945C>G (p.Ser2315Arg)
c.6855C>G (p.Ser2285Arg)
c.6717C>G (p.Ser2239Arg)
Xg.53568814G=CA2429880769HUWE1c.6582C= (p.Ser2194=)
c.6585C= (p.Ser2195=)
c.6558C= (p.Ser2186=)
c.6834C= (p.Ser2278=)
c.6831C= (p.Ser2277=)
n.7269C=
c.6966C= (p.Ser2322=)
c.6963C= (p.Ser2321=)
c.6945C= (p.Ser2315=)
c.6855C= (p.Ser2285=)
c.6717C= (p.Ser2239=)
Xg.53568814G>TCA413163876HUWE1c.6582C>A (p.Ser2194Arg)
c.6585C>A (p.Ser2195Arg)
c.6558C>A (p.Ser2186Arg)
c.6834C>A (p.Ser2278Arg)
c.6831C>A (p.Ser2277Arg)
n.7269C>A
c.6966C>A (p.Ser2322Arg)
c.6963C>A (p.Ser2321Arg)
c.6945C>A (p.Ser2315Arg)
c.6855C>A (p.Ser2285Arg)
c.6717C>A (p.Ser2239Arg)
Xg.53568815C>ACA413163879HUWE1c.6581G>T (p.Ser2194Ile)
c.6584G>T (p.Ser2195Ile)
c.6557G>T (p.Ser2186Ile)
c.6833G>T (p.Ser2278Ile)
c.6830G>T (p.Ser2277Ile)
n.7268G>T
c.6965G>T (p.Ser2322Ile)
c.6962G>T (p.Ser2321Ile)
c.6944G>T (p.Ser2315Ile)
c.6854G>T (p.Ser2285Ile)
c.6716G>T (p.Ser2239Ile)
Xg.53568815C>GCA413163881HUWE1c.6581G>C (p.Ser2194Thr)
c.6584G>C (p.Ser2195Thr)
c.6557G>C (p.Ser2186Thr)
c.6833G>C (p.Ser2278Thr)
c.6830G>C (p.Ser2277Thr)
n.7268G>C
c.6965G>C (p.Ser2322Thr)
c.6962G>C (p.Ser2321Thr)
c.6944G>C (p.Ser2315Thr)
c.6854G>C (p.Ser2285Thr)
c.6716G>C (p.Ser2239Thr)
Xg.53568815C>TCA413163883HUWE1c.6581G>A (p.Ser2194Asn)
c.6584G>A (p.Ser2195Asn)
c.6557G>A (p.Ser2186Asn)
c.6833G>A (p.Ser2278Asn)
c.6830G>A (p.Ser2277Asn)
n.7268G>A
c.6965G>A (p.Ser2322Asn)
c.6962G>A (p.Ser2321Asn)
c.6944G>A (p.Ser2315Asn)
c.6854G>A (p.Ser2285Asn)
c.6716G>A (p.Ser2239Asn)
Xg.53568816T>ACA413163890HUWE1c.6580A>T (p.Ser2194Cys)
c.6583A>T (p.Ser2195Cys)
c.6556A>T (p.Ser2186Cys)
c.6832A>T (p.Ser2278Cys)
c.6829A>T (p.Ser2277Cys)
n.7267A>T
c.6964A>T (p.Ser2322Cys)
c.6961A>T (p.Ser2321Cys)
c.6943A>T (p.Ser2315Cys)
c.6853A>T (p.Ser2285Cys)
c.6715A>T (p.Ser2239Cys)
Xg.53568816T>CCA413163892HUWE1c.6580A>G (p.Ser2194Gly)
c.6583A>G (p.Ser2195Gly)
c.6556A>G (p.Ser2186Gly)
c.6832A>G (p.Ser2278Gly)
c.6829A>G (p.Ser2277Gly)
n.7267A>G
c.6964A>G (p.Ser2322Gly)
c.6961A>G (p.Ser2321Gly)
c.6943A>G (p.Ser2315Gly)
c.6853A>G (p.Ser2285Gly)
c.6715A>G (p.Ser2239Gly)
 gnomAD v4
Xg.53568816T>GCA413163885HUWE1c.6580A>C (p.Ser2194Arg)
c.6583A>C (p.Ser2195Arg)
c.6556A>C (p.Ser2186Arg)
c.6832A>C (p.Ser2278Arg)
c.6829A>C (p.Ser2277Arg)
n.7267A>C
c.6964A>C (p.Ser2322Arg)
c.6961A>C (p.Ser2321Arg)
c.6943A>C (p.Ser2315Arg)
c.6853A>C (p.Ser2285Arg)
c.6715A>C (p.Ser2239Arg)
Xg.53568817G>ACA516433739HUWE1c.6579C>T (p.Ser2193=)
c.6582C>T (p.Ser2194=)
c.6555C>T (p.Ser2185=)
c.6831C>T (p.Ser2277=)
c.6828C>T (p.Ser2276=)
n.7266C>T
c.6963C>T (p.Ser2321=)
c.6960C>T (p.Ser2320=)
c.6942C>T (p.Ser2314=)
c.6852C>T (p.Ser2284=)
c.6714C>T (p.Ser2238=)
Xg.53568817G>CCA516433742HUWE1c.6579C>G (p.Ser2193=)
c.6582C>G (p.Ser2194=)
c.6555C>G (p.Ser2185=)
c.6831C>G (p.Ser2277=)
c.6828C>G (p.Ser2276=)
n.7266C>G
c.6963C>G (p.Ser2321=)
c.6960C>G (p.Ser2320=)
c.6942C>G (p.Ser2314=)
c.6852C>G (p.Ser2284=)
c.6714C>G (p.Ser2238=)
Xg.53568817G>TCA516433740HUWE1c.6579C>A (p.Ser2193=)
c.6582C>A (p.Ser2194=)
c.6555C>A (p.Ser2185=)
c.6831C>A (p.Ser2277=)
c.6828C>A (p.Ser2276=)
n.7266C>A
c.6963C>A (p.Ser2321=)
c.6960C>A (p.Ser2320=)
c.6942C>A (p.Ser2314=)
c.6852C>A (p.Ser2284=)
c.6714C>A (p.Ser2238=)
Xg.53568818G>ACA413163894HUWE1c.6578C>T (p.Ser2193Phe)
c.6581C>T (p.Ser2194Phe)
c.6554C>T (p.Ser2185Phe)
c.6830C>T (p.Ser2277Phe)
c.6827C>T (p.Ser2276Phe)
n.7265C>T
c.6962C>T (p.Ser2321Phe)
c.6959C>T (p.Ser2320Phe)
c.6941C>T (p.Ser2314Phe)
c.6851C>T (p.Ser2284Phe)
c.6713C>T (p.Ser2238Phe)
Xg.53568818G>CCA413163901HUWE1c.6578C>G (p.Ser2193Cys)
c.6581C>G (p.Ser2194Cys)
c.6554C>G (p.Ser2185Cys)
c.6830C>G (p.Ser2277Cys)
c.6827C>G (p.Ser2276Cys)
n.7265C>G
c.6962C>G (p.Ser2321Cys)
c.6959C>G (p.Ser2320Cys)
c.6941C>G (p.Ser2314Cys)
c.6851C>G (p.Ser2284Cys)
c.6713C>G (p.Ser2238Cys)
 dbSNP gnomAD v4
Xg.53568818G=CA2429880770HUWE1c.6578C= (p.Ser2193=)
c.6581C= (p.Ser2194=)
c.6554C= (p.Ser2185=)
c.6830C= (p.Ser2277=)
c.6827C= (p.Ser2276=)
n.7265C=
c.6962C= (p.Ser2321=)
c.6959C= (p.Ser2320=)
c.6941C= (p.Ser2314=)
c.6851C= (p.Ser2284=)
c.6713C= (p.Ser2238=)
Xg.53568818G>TCA413163904HUWE1c.6578C>A (p.Ser2193Tyr)
c.6581C>A (p.Ser2194Tyr)
c.6554C>A (p.Ser2185Tyr)
c.6830C>A (p.Ser2277Tyr)
c.6827C>A (p.Ser2276Tyr)
n.7265C>A
c.6962C>A (p.Ser2321Tyr)
c.6959C>A (p.Ser2320Tyr)
c.6941C>A (p.Ser2314Tyr)
c.6851C>A (p.Ser2284Tyr)
c.6713C>A (p.Ser2238Tyr)
Xg.53568819A>CCA413163908HUWE1c.6577T>G (p.Ser2193Ala)
c.6580T>G (p.Ser2194Ala)
c.6553T>G (p.Ser2185Ala)
c.6829T>G (p.Ser2277Ala)
c.6826T>G (p.Ser2276Ala)
n.7264T>G
c.6961T>G (p.Ser2321Ala)
c.6958T>G (p.Ser2320Ala)
c.6940T>G (p.Ser2314Ala)
c.6850T>G (p.Ser2284Ala)
c.6712T>G (p.Ser2238Ala)
Xg.53568819A>GCA413163916HUWE1c.6577T>C (p.Ser2193Pro)
c.6580T>C (p.Ser2194Pro)
c.6553T>C (p.Ser2185Pro)
c.6829T>C (p.Ser2277Pro)
c.6826T>C (p.Ser2276Pro)
n.7264T>C
c.6961T>C (p.Ser2321Pro)
c.6958T>C (p.Ser2320Pro)
c.6940T>C (p.Ser2314Pro)
c.6850T>C (p.Ser2284Pro)
c.6712T>C (p.Ser2238Pro)
Xg.53568819A>TCA413163917HUWE1c.6577T>A (p.Ser2193Thr)
c.6580T>A (p.Ser2194Thr)
c.6553T>A (p.Ser2185Thr)
c.6829T>A (p.Ser2277Thr)
c.6826T>A (p.Ser2276Thr)
n.7264T>A
c.6961T>A (p.Ser2321Thr)
c.6958T>A (p.Ser2320Thr)
c.6940T>A (p.Ser2314Thr)
c.6850T>A (p.Ser2284Thr)
c.6712T>A (p.Ser2238Thr)
Xg.53568820G>ACA516433748HUWE1c.6576C>T (p.Thr2192=)
c.6579C>T (p.Thr2193=)
c.6552C>T (p.Thr2184=)
c.6828C>T (p.Thr2276=)
c.6825C>T (p.Thr2275=)
n.7263C>T
c.6960C>T (p.Thr2320=)
c.6957C>T (p.Thr2319=)
c.6939C>T (p.Thr2313=)
c.6849C>T (p.Thr2283=)
c.6711C>T (p.Thr2237=)
Xg.53568820G>CCA516433749HUWE1c.6576C>G (p.Thr2192=)
c.6579C>G (p.Thr2193=)
c.6552C>G (p.Thr2184=)
c.6828C>G (p.Thr2276=)
c.6825C>G (p.Thr2275=)
n.7263C>G
c.6960C>G (p.Thr2320=)
c.6957C>G (p.Thr2319=)
c.6939C>G (p.Thr2313=)
c.6849C>G (p.Thr2283=)
c.6711C>G (p.Thr2237=)
Xg.53568820G>TCA516433750HUWE1c.6576C>A (p.Thr2192=)
c.6579C>A (p.Thr2193=)
c.6552C>A (p.Thr2184=)
c.6828C>A (p.Thr2276=)
c.6825C>A (p.Thr2275=)
n.7263C>A
c.6960C>A (p.Thr2320=)
c.6957C>A (p.Thr2319=)
c.6939C>A (p.Thr2313=)
c.6849C>A (p.Thr2283=)
c.6711C>A (p.Thr2237=)
Xg.53568821G>ACA413163920HUWE1c.6575C>T (p.Thr2192Ile)
c.6578C>T (p.Thr2193Ile)
c.6551C>T (p.Thr2184Ile)
c.6827C>T (p.Thr2276Ile)
c.6824C>T (p.Thr2275Ile)
n.7262C>T
c.6959C>T (p.Thr2320Ile)
c.6956C>T (p.Thr2319Ile)
c.6938C>T (p.Thr2313Ile)
c.6848C>T (p.Thr2283Ile)
c.6710C>T (p.Thr2237Ile)
Xg.53568821G>CCA413163922HUWE1c.6575C>G (p.Thr2192Ser)
c.6578C>G (p.Thr2193Ser)
c.6551C>G (p.Thr2184Ser)
c.6827C>G (p.Thr2276Ser)
c.6824C>G (p.Thr2275Ser)
n.7262C>G
c.6959C>G (p.Thr2320Ser)
c.6956C>G (p.Thr2319Ser)
c.6938C>G (p.Thr2313Ser)
c.6848C>G (p.Thr2283Ser)
c.6710C>G (p.Thr2237Ser)
Xg.53568821G>TCA413163924HUWE1c.6575C>A (p.Thr2192Asn)
c.6578C>A (p.Thr2193Asn)
c.6551C>A (p.Thr2184Asn)
c.6827C>A (p.Thr2276Asn)
c.6824C>A (p.Thr2275Asn)
n.7262C>A
c.6959C>A (p.Thr2320Asn)
c.6956C>A (p.Thr2319Asn)
c.6938C>A (p.Thr2313Asn)
c.6848C>A (p.Thr2283Asn)
c.6710C>A (p.Thr2237Asn)
Xg.53568822T>ACA413163927HUWE1c.6574A>T (p.Thr2192Ser)
c.6577A>T (p.Thr2193Ser)
c.6550A>T (p.Thr2184Ser)
c.6826A>T (p.Thr2276Ser)
c.6823A>T (p.Thr2275Ser)
n.7261A>T
c.6958A>T (p.Thr2320Ser)
c.6955A>T (p.Thr2319Ser)
c.6937A>T (p.Thr2313Ser)
c.6847A>T (p.Thr2283Ser)
c.6709A>T (p.Thr2237Ser)
Xg.53568822T>CCA413163930HUWE1c.6574A>G (p.Thr2192Ala)
c.6577A>G (p.Thr2193Ala)
c.6550A>G (p.Thr2184Ala)
c.6826A>G (p.Thr2276Ala)
c.6823A>G (p.Thr2275Ala)
n.7261A>G
c.6958A>G (p.Thr2320Ala)
c.6955A>G (p.Thr2319Ala)
c.6937A>G (p.Thr2313Ala)
c.6847A>G (p.Thr2283Ala)
c.6709A>G (p.Thr2237Ala)
Xg.53568822T>GCA413163932HUWE1c.6574A>C (p.Thr2192Pro)
c.6577A>C (p.Thr2193Pro)
c.6550A>C (p.Thr2184Pro)
c.6826A>C (p.Thr2276Pro)
c.6823A>C (p.Thr2275Pro)
n.7261A>C
c.6958A>C (p.Thr2320Pro)
c.6955A>C (p.Thr2319Pro)
c.6937A>C (p.Thr2313Pro)
c.6847A>C (p.Thr2283Pro)
c.6709A>C (p.Thr2237Pro)
Xg.53568823G>ACA516433757HUWE1c.6573C>T (p.Ser2191=)
c.6576C>T (p.Ser2192=)
c.6549C>T (p.Ser2183=)
c.6825C>T (p.Ser2275=)
c.6822C>T (p.Ser2274=)
n.7260C>T
c.6957C>T (p.Ser2319=)
c.6954C>T (p.Ser2318=)
c.6936C>T (p.Ser2312=)
c.6846C>T (p.Ser2282=)
c.6708C>T (p.Ser2236=)
Xg.53568823G>CCA516433758HUWE1c.6573C>G (p.Ser2191=)
c.6576C>G (p.Ser2192=)
c.6549C>G (p.Ser2183=)
c.6825C>G (p.Ser2275=)
c.6822C>G (p.Ser2274=)
n.7260C>G
c.6957C>G (p.Ser2319=)
c.6954C>G (p.Ser2318=)
c.6936C>G (p.Ser2312=)
c.6846C>G (p.Ser2282=)
c.6708C>G (p.Ser2236=)
Xg.53568823G>TCA516433759HUWE1c.6573C>A (p.Ser2191=)
c.6576C>A (p.Ser2192=)
c.6549C>A (p.Ser2183=)
c.6825C>A (p.Ser2275=)
c.6822C>A (p.Ser2274=)
n.7260C>A
c.6957C>A (p.Ser2319=)
c.6954C>A (p.Ser2318=)
c.6936C>A (p.Ser2312=)
c.6846C>A (p.Ser2282=)
c.6708C>A (p.Ser2236=)
Xg.53568824G>ACA413163948HUWE1c.6572C>T (p.Ser2191Phe)
c.6575C>T (p.Ser2192Phe)
c.6548C>T (p.Ser2183Phe)
c.6824C>T (p.Ser2275Phe)
c.6821C>T (p.Ser2274Phe)
n.7259C>T
c.6956C>T (p.Ser2319Phe)
c.6953C>T (p.Ser2318Phe)
c.6935C>T (p.Ser2312Phe)
c.6845C>T (p.Ser2282Phe)
c.6707C>T (p.Ser2236Phe)
Xg.53568824G>CCA413163952HUWE1c.6572C>G (p.Ser2191Cys)
c.6575C>G (p.Ser2192Cys)
c.6548C>G (p.Ser2183Cys)
c.6824C>G (p.Ser2275Cys)
c.6821C>G (p.Ser2274Cys)
n.7259C>G
c.6956C>G (p.Ser2319Cys)
c.6953C>G (p.Ser2318Cys)
c.6935C>G (p.Ser2312Cys)
c.6845C>G (p.Ser2282Cys)
c.6707C>G (p.Ser2236Cys)
Xg.53568824G>TCA413163947HUWE1c.6572C>A (p.Ser2191Tyr)
c.6575C>A (p.Ser2192Tyr)
c.6548C>A (p.Ser2183Tyr)
c.6824C>A (p.Ser2275Tyr)
c.6821C>A (p.Ser2274Tyr)
n.7259C>A
c.6956C>A (p.Ser2319Tyr)
c.6953C>A (p.Ser2318Tyr)
c.6935C>A (p.Ser2312Tyr)
c.6845C>A (p.Ser2282Tyr)
c.6707C>A (p.Ser2236Tyr)
 gnomAD v4
Xg.53568825A>CCA413163959HUWE1c.6571T>G (p.Ser2191Ala)
c.6574T>G (p.Ser2192Ala)
c.6547T>G (p.Ser2183Ala)
c.6823T>G (p.Ser2275Ala)
c.6820T>G (p.Ser2274Ala)
n.7258T>G
c.6955T>G (p.Ser2319Ala)
c.6952T>G (p.Ser2318Ala)
c.6934T>G (p.Ser2312Ala)
c.6844T>G (p.Ser2282Ala)
c.6706T>G (p.Ser2236Ala)
Xg.53568825A>GCA413163961HUWE1c.6571T>C (p.Ser2191Pro)
c.6574T>C (p.Ser2192Pro)
c.6547T>C (p.Ser2183Pro)
c.6823T>C (p.Ser2275Pro)
c.6820T>C (p.Ser2274Pro)
n.7258T>C
c.6955T>C (p.Ser2319Pro)
c.6952T>C (p.Ser2318Pro)
c.6934T>C (p.Ser2312Pro)
c.6844T>C (p.Ser2282Pro)
c.6706T>C (p.Ser2236Pro)
Xg.53568825A>TCA413163965HUWE1c.6571T>A (p.Ser2191Thr)
c.6574T>A (p.Ser2192Thr)
c.6547T>A (p.Ser2183Thr)
c.6823T>A (p.Ser2275Thr)
c.6820T>A (p.Ser2274Thr)
n.7258T>A
c.6955T>A (p.Ser2319Thr)
c.6952T>A (p.Ser2318Thr)
c.6934T>A (p.Ser2312Thr)
c.6844T>A (p.Ser2282Thr)
c.6706T>A (p.Ser2236Thr)
Xg.53568826G>ACA516433768HUWE1c.6570C>T (p.Pro2190=)
c.6573C>T (p.Pro2191=)
c.6546C>T (p.Pro2182=)
c.6822C>T (p.Pro2274=)
c.6819C>T (p.Pro2273=)
n.7257C>T
c.6954C>T (p.Pro2318=)
c.6951C>T (p.Pro2317=)
c.6933C>T (p.Pro2311=)
c.6843C>T (p.Pro2281=)
c.6705C>T (p.Pro2235=)
 gnomAD v4
Xg.53568826G>CCA516433765HUWE1c.6570C>G (p.Pro2190=)
c.6573C>G (p.Pro2191=)
c.6546C>G (p.Pro2182=)
c.6822C>G (p.Pro2274=)
c.6819C>G (p.Pro2273=)
n.7257C>G
c.6954C>G (p.Pro2318=)
c.6951C>G (p.Pro2317=)
c.6933C>G (p.Pro2311=)
c.6843C>G (p.Pro2281=)
c.6705C>G (p.Pro2235=)
Xg.53568826G>TCA516433767HUWE1c.6570C>A (p.Pro2190=)
c.6573C>A (p.Pro2191=)
c.6546C>A (p.Pro2182=)
c.6822C>A (p.Pro2274=)
c.6819C>A (p.Pro2273=)
n.7257C>A
c.6954C>A (p.Pro2318=)
c.6951C>A (p.Pro2317=)
c.6933C>A (p.Pro2311=)
c.6843C>A (p.Pro2281=)
c.6705C>A (p.Pro2235=)
Xg.53568827G>ACA413163968HUWE1c.6569C>T (p.Pro2190Leu)
c.6572C>T (p.Pro2191Leu)
c.6545C>T (p.Pro2182Leu)
c.6821C>T (p.Pro2274Leu)
c.6818C>T (p.Pro2273Leu)
n.7256C>T
c.6953C>T (p.Pro2318Leu)
c.6950C>T (p.Pro2317Leu)
c.6932C>T (p.Pro2311Leu)
c.6842C>T (p.Pro2281Leu)
c.6704C>T (p.Pro2235Leu)
Xg.53568827G>CCA413163970HUWE1c.6569C>G (p.Pro2190Arg)
c.6572C>G (p.Pro2191Arg)
c.6545C>G (p.Pro2182Arg)
c.6821C>G (p.Pro2274Arg)
c.6818C>G (p.Pro2273Arg)
n.7256C>G
c.6953C>G (p.Pro2318Arg)
c.6950C>G (p.Pro2317Arg)
c.6932C>G (p.Pro2311Arg)
c.6842C>G (p.Pro2281Arg)
c.6704C>G (p.Pro2235Arg)
Xg.53568827G>TCA413163974HUWE1c.6569C>A (p.Pro2190His)
c.6572C>A (p.Pro2191His)
c.6545C>A (p.Pro2182His)
c.6821C>A (p.Pro2274His)
c.6818C>A (p.Pro2273His)
n.7256C>A
c.6953C>A (p.Pro2318His)
c.6950C>A (p.Pro2317His)
c.6932C>A (p.Pro2311His)
c.6842C>A (p.Pro2281His)
c.6704C>A (p.Pro2235His)
Xg.53568828G>ACA10422071HUWE1c.6568C>T (p.Pro2190Ser)
c.6571C>T (p.Pro2191Ser)
c.6544C>T (p.Pro2182Ser)
c.6820C>T (p.Pro2274Ser)
c.6817C>T (p.Pro2273Ser)
n.7255C>T
c.6952C>T (p.Pro2318Ser)
c.6949C>T (p.Pro2317Ser)
c.6931C>T (p.Pro2311Ser)
c.6841C>T (p.Pro2281Ser)
c.6703C>T (p.Pro2235Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53568828G>CCA413163992HUWE1c.6568C>G (p.Pro2190Ala)
c.6571C>G (p.Pro2191Ala)
c.6544C>G (p.Pro2182Ala)
c.6820C>G (p.Pro2274Ala)
c.6817C>G (p.Pro2273Ala)
n.7255C>G
c.6952C>G (p.Pro2318Ala)
c.6949C>G (p.Pro2317Ala)
c.6931C>G (p.Pro2311Ala)
c.6841C>G (p.Pro2281Ala)
c.6703C>G (p.Pro2235Ala)
Xg.53568828G=CA2429880771HUWE1c.6568C= (p.Pro2190=)
c.6571C= (p.Pro2191=)
c.6544C= (p.Pro2182=)
c.6820C= (p.Pro2274=)
c.6817C= (p.Pro2273=)
n.7255C=
c.6952C= (p.Pro2318=)
c.6949C= (p.Pro2317=)
c.6931C= (p.Pro2311=)
c.6841C= (p.Pro2281=)
c.6703C= (p.Pro2235=)
Xg.53568828G>TCA413163982HUWE1c.6568C>A (p.Pro2190Thr)
c.6571C>A (p.Pro2191Thr)
c.6544C>A (p.Pro2182Thr)
c.6820C>A (p.Pro2274Thr)
c.6817C>A (p.Pro2273Thr)
n.7255C>A
c.6952C>A (p.Pro2318Thr)
c.6949C>A (p.Pro2317Thr)
c.6931C>A (p.Pro2311Thr)
c.6841C>A (p.Pro2281Thr)
c.6703C>A (p.Pro2235Thr)
Xg.53568829G>ACA516433774HUWE1c.6567C>T (p.Cys2189=)
c.6570C>T (p.Cys2190=)
c.6543C>T (p.Cys2181=)
c.6819C>T (p.Cys2273=)
c.6816C>T (p.Cys2272=)
n.7254C>T
c.6951C>T (p.Cys2317=)
c.6948C>T (p.Cys2316=)
c.6930C>T (p.Cys2310=)
c.6840C>T (p.Cys2280=)
c.6702C>T (p.Cys2234=)
 gnomAD v4
Xg.53568829G>CCA413163995HUWE1c.6567C>G (p.Cys2189Trp)
c.6570C>G (p.Cys2190Trp)
c.6543C>G (p.Cys2181Trp)
c.6819C>G (p.Cys2273Trp)
c.6816C>G (p.Cys2272Trp)
n.7254C>G
c.6951C>G (p.Cys2317Trp)
c.6948C>G (p.Cys2316Trp)
c.6930C>G (p.Cys2310Trp)
c.6840C>G (p.Cys2280Trp)
c.6702C>G (p.Cys2234Trp)
Xg.53568829G>TCA413163998HUWE1c.6567C>A (p.Cys2189Ter)
c.6570C>A (p.Cys2190Ter)
c.6543C>A (p.Cys2181Ter)
c.6819C>A (p.Cys2273Ter)
c.6816C>A (p.Cys2272Ter)
n.7254C>A
c.6951C>A (p.Cys2317Ter)
c.6948C>A (p.Cys2316Ter)
c.6930C>A (p.Cys2310Ter)
c.6840C>A (p.Cys2280Ter)
c.6702C>A (p.Cys2234Ter)
Xg.53568830C>ACA413164003HUWE1c.6566G>T (p.Cys2189Phe)
c.6569G>T (p.Cys2190Phe)
c.6542G>T (p.Cys2181Phe)
c.6818G>T (p.Cys2273Phe)
c.6815G>T (p.Cys2272Phe)
n.7253G>T
c.6950G>T (p.Cys2317Phe)
c.6947G>T (p.Cys2316Phe)
c.6929G>T (p.Cys2310Phe)
c.6839G>T (p.Cys2280Phe)
c.6701G>T (p.Cys2234Phe)
Xg.53568830C>GCA413164005HUWE1c.6566G>C (p.Cys2189Ser)
c.6569G>C (p.Cys2190Ser)
c.6542G>C (p.Cys2181Ser)
c.6818G>C (p.Cys2273Ser)
c.6815G>C (p.Cys2272Ser)
n.7253G>C
c.6950G>C (p.Cys2317Ser)
c.6947G>C (p.Cys2316Ser)
c.6929G>C (p.Cys2310Ser)
c.6839G>C (p.Cys2280Ser)
c.6701G>C (p.Cys2234Ser)
Xg.53568830C>TCA413164008HUWE1c.6566G>A (p.Cys2189Tyr)
c.6569G>A (p.Cys2190Tyr)
c.6542G>A (p.Cys2181Tyr)
c.6818G>A (p.Cys2273Tyr)
c.6815G>A (p.Cys2272Tyr)
n.7253G>A
c.6950G>A (p.Cys2317Tyr)
c.6947G>A (p.Cys2316Tyr)
c.6929G>A (p.Cys2310Tyr)
c.6839G>A (p.Cys2280Tyr)
c.6701G>A (p.Cys2234Tyr)
Xg.53568831A>CCA413164025HUWE1c.6565T>G (p.Cys2189Gly)
c.6568T>G (p.Cys2190Gly)
c.6541T>G (p.Cys2181Gly)
c.6817T>G (p.Cys2273Gly)
c.6814T>G (p.Cys2272Gly)
n.7252T>G
c.6949T>G (p.Cys2317Gly)
c.6946T>G (p.Cys2316Gly)
c.6928T>G (p.Cys2310Gly)
c.6838T>G (p.Cys2280Gly)
c.6700T>G (p.Cys2234Gly)
 gnomAD v4
Xg.53568831A>GCA413164028HUWE1c.6565T>C (p.Cys2189Arg)
c.6568T>C (p.Cys2190Arg)
c.6541T>C (p.Cys2181Arg)
c.6817T>C (p.Cys2273Arg)
c.6814T>C (p.Cys2272Arg)
n.7252T>C
c.6949T>C (p.Cys2317Arg)
c.6946T>C (p.Cys2316Arg)
c.6928T>C (p.Cys2310Arg)
c.6838T>C (p.Cys2280Arg)
c.6700T>C (p.Cys2234Arg)
Xg.53568831A>TCA413164019HUWE1c.6565T>A (p.Cys2189Ser)
c.6568T>A (p.Cys2190Ser)
c.6541T>A (p.Cys2181Ser)
c.6817T>A (p.Cys2273Ser)
c.6814T>A (p.Cys2272Ser)
n.7252T>A
c.6949T>A (p.Cys2317Ser)
c.6946T>A (p.Cys2316Ser)
c.6928T>A (p.Cys2310Ser)
c.6838T>A (p.Cys2280Ser)
c.6700T>A (p.Cys2234Ser)
Xg.53568832G>ACA516433781HUWE1c.6564C>T (p.Ser2188=)
c.6567C>T (p.Ser2189=)
c.6540C>T (p.Ser2180=)
c.6816C>T (p.Ser2272=)
c.6813C>T (p.Ser2271=)
n.7251C>T
c.6948C>T (p.Ser2316=)
c.6945C>T (p.Ser2315=)
c.6927C>T (p.Ser2309=)
c.6837C>T (p.Ser2279=)
c.6699C>T (p.Ser2233=)
 gnomAD v4
Xg.53568832G>CCA516433784HUWE1c.6564C>G (p.Ser2188=)
c.6567C>G (p.Ser2189=)
c.6540C>G (p.Ser2180=)
c.6816C>G (p.Ser2272=)
c.6813C>G (p.Ser2271=)
n.7251C>G
c.6948C>G (p.Ser2316=)
c.6945C>G (p.Ser2315=)
c.6927C>G (p.Ser2309=)
c.6837C>G (p.Ser2279=)
c.6699C>G (p.Ser2233=)
Xg.53568832G>TCA516433782HUWE1c.6564C>A (p.Ser2188=)
c.6567C>A (p.Ser2189=)
c.6540C>A (p.Ser2180=)
c.6816C>A (p.Ser2272=)
c.6813C>A (p.Ser2271=)
n.7251C>A
c.6948C>A (p.Ser2316=)
c.6945C>A (p.Ser2315=)
c.6927C>A (p.Ser2309=)
c.6837C>A (p.Ser2279=)
c.6699C>A (p.Ser2233=)
Xg.53568833G>ACA413164031HUWE1c.6563C>T (p.Ser2188Phe)
c.6566C>T (p.Ser2189Phe)
c.6539C>T (p.Ser2180Phe)
c.6815C>T (p.Ser2272Phe)
c.6812C>T (p.Ser2271Phe)
n.7250C>T
c.6947C>T (p.Ser2316Phe)
c.6944C>T (p.Ser2315Phe)
c.6926C>T (p.Ser2309Phe)
c.6836C>T (p.Ser2279Phe)
c.6698C>T (p.Ser2233Phe)
Xg.53568833G>CCA413164030HUWE1c.6563C>G (p.Ser2188Cys)
c.6566C>G (p.Ser2189Cys)
c.6539C>G (p.Ser2180Cys)
c.6815C>G (p.Ser2272Cys)
c.6812C>G (p.Ser2271Cys)
n.7250C>G
c.6947C>G (p.Ser2316Cys)
c.6944C>G (p.Ser2315Cys)
c.6926C>G (p.Ser2309Cys)
c.6836C>G (p.Ser2279Cys)
c.6698C>G (p.Ser2233Cys)
 gnomAD v4
Xg.53568833G>TCA413164032HUWE1c.6563C>A (p.Ser2188Tyr)
c.6566C>A (p.Ser2189Tyr)
c.6539C>A (p.Ser2180Tyr)
c.6815C>A (p.Ser2272Tyr)
c.6812C>A (p.Ser2271Tyr)
n.7250C>A
c.6947C>A (p.Ser2316Tyr)
c.6944C>A (p.Ser2315Tyr)
c.6926C>A (p.Ser2309Tyr)
c.6836C>A (p.Ser2279Tyr)
c.6698C>A (p.Ser2233Tyr)
Xg.53568834A>CCA413164033HUWE1c.6562T>G (p.Ser2188Ala)
c.6565T>G (p.Ser2189Ala)
c.6538T>G (p.Ser2180Ala)
c.6814T>G (p.Ser2272Ala)
c.6811T>G (p.Ser2271Ala)
n.7249T>G
c.6946T>G (p.Ser2316Ala)
c.6943T>G (p.Ser2315Ala)
c.6925T>G (p.Ser2309Ala)
c.6835T>G (p.Ser2279Ala)
c.6697T>G (p.Ser2233Ala)
Xg.53568834A>GCA413164035HUWE1c.6562T>C (p.Ser2188Pro)
c.6565T>C (p.Ser2189Pro)
c.6538T>C (p.Ser2180Pro)
c.6814T>C (p.Ser2272Pro)
c.6811T>C (p.Ser2271Pro)
n.7249T>C
c.6946T>C (p.Ser2316Pro)
c.6943T>C (p.Ser2315Pro)
c.6925T>C (p.Ser2309Pro)
c.6835T>C (p.Ser2279Pro)
c.6697T>C (p.Ser2233Pro)
Xg.53568834A>TCA413164037HUWE1c.6562T>A (p.Ser2188Thr)
c.6565T>A (p.Ser2189Thr)
c.6538T>A (p.Ser2180Thr)
c.6814T>A (p.Ser2272Thr)
c.6811T>A (p.Ser2271Thr)
n.7249T>A
c.6946T>A (p.Ser2316Thr)
c.6943T>A (p.Ser2315Thr)
c.6925T>A (p.Ser2309Thr)
c.6835T>A (p.Ser2279Thr)
c.6697T>A (p.Ser2233Thr)
Xg.53568835C>ACA413164040HUWE1c.6561G>T (p.Glu2187Asp)
c.6564G>T (p.Glu2188Asp)
c.6537G>T (p.Glu2179Asp)
c.6813G>T (p.Glu2271Asp)
c.6810G>T (p.Glu2270Asp)
n.7248G>T
c.6945G>T (p.Glu2315Asp)
c.6942G>T (p.Glu2314Asp)
c.6924G>T (p.Glu2308Asp)
c.6834G>T (p.Glu2278Asp)
c.6696G>T (p.Glu2232Asp)
Xg.53568835C>GCA413164044HUWE1c.6561G>C (p.Glu2187Asp)
c.6564G>C (p.Glu2188Asp)
c.6537G>C (p.Glu2179Asp)
c.6813G>C (p.Glu2271Asp)
c.6810G>C (p.Glu2270Asp)
n.7248G>C
c.6945G>C (p.Glu2315Asp)
c.6942G>C (p.Glu2314Asp)
c.6924G>C (p.Glu2308Asp)
c.6834G>C (p.Glu2278Asp)
c.6696G>C (p.Glu2232Asp)
Xg.53568835C>TCA516433791HUWE1c.6561G>A (p.Glu2187=)
c.6564G>A (p.Glu2188=)
c.6537G>A (p.Glu2179=)
c.6813G>A (p.Glu2271=)
c.6810G>A (p.Glu2270=)
n.7248G>A
c.6945G>A (p.Glu2315=)
c.6942G>A (p.Glu2314=)
c.6924G>A (p.Glu2308=)
c.6834G>A (p.Glu2278=)
c.6696G>A (p.Glu2232=)
Xg.53568836T>ACA413164047HUWE1c.6560A>T (p.Glu2187Val)
c.6563A>T (p.Glu2188Val)
c.6536A>T (p.Glu2179Val)
c.6812A>T (p.Glu2271Val)
c.6809A>T (p.Glu2270Val)
n.7247A>T
c.6944A>T (p.Glu2315Val)
c.6941A>T (p.Glu2314Val)
c.6923A>T (p.Glu2308Val)
c.6833A>T (p.Glu2278Val)
c.6695A>T (p.Glu2232Val)
Xg.53568836T>CCA413164049HUWE1c.6560A>G (p.Glu2187Gly)
c.6563A>G (p.Glu2188Gly)
c.6536A>G (p.Glu2179Gly)
c.6812A>G (p.Glu2271Gly)
c.6809A>G (p.Glu2270Gly)
n.7247A>G
c.6944A>G (p.Glu2315Gly)
c.6941A>G (p.Glu2314Gly)
c.6923A>G (p.Glu2308Gly)
c.6833A>G (p.Glu2278Gly)
c.6695A>G (p.Glu2232Gly)
Xg.53568836T>GCA413164052HUWE1c.6560A>C (p.Glu2187Ala)
c.6563A>C (p.Glu2188Ala)
c.6536A>C (p.Glu2179Ala)
c.6812A>C (p.Glu2271Ala)
c.6809A>C (p.Glu2270Ala)
n.7247A>C
c.6944A>C (p.Glu2315Ala)
c.6941A>C (p.Glu2314Ala)
c.6923A>C (p.Glu2308Ala)
c.6833A>C (p.Glu2278Ala)
c.6695A>C (p.Glu2232Ala)
Xg.53568837C>ACA413164056HUWE1c.6559G>T (p.Glu2187Ter)
c.6562G>T (p.Glu2188Ter)
c.6535G>T (p.Glu2179Ter)
c.6811G>T (p.Glu2271Ter)
c.6808G>T (p.Glu2270Ter)
n.7246G>T
c.6943G>T (p.Glu2315Ter)
c.6940G>T (p.Glu2314Ter)
c.6922G>T (p.Glu2308Ter)
c.6832G>T (p.Glu2278Ter)
c.6694G>T (p.Glu2232Ter)
Xg.53568837C>GCA413164058HUWE1c.6559G>C (p.Glu2187Gln)
c.6562G>C (p.Glu2188Gln)
c.6535G>C (p.Glu2179Gln)
c.6811G>C (p.Glu2271Gln)
c.6808G>C (p.Glu2270Gln)
n.7246G>C
c.6943G>C (p.Glu2315Gln)
c.6940G>C (p.Glu2314Gln)
c.6922G>C (p.Glu2308Gln)
c.6832G>C (p.Glu2278Gln)
c.6694G>C (p.Glu2232Gln)
Xg.53568837C>TCA413164061HUWE1c.6559G>A (p.Glu2187Lys)
c.6562G>A (p.Glu2188Lys)
c.6535G>A (p.Glu2179Lys)
c.6811G>A (p.Glu2271Lys)
c.6808G>A (p.Glu2270Lys)
n.7246G>A
c.6943G>A (p.Glu2315Lys)
c.6940G>A (p.Glu2314Lys)
c.6922G>A (p.Glu2308Lys)
c.6832G>A (p.Glu2278Lys)
c.6694G>A (p.Glu2232Lys)
Xg.53568838C>ACA413164075HUWE1c.6558G>T (p.Met2186Ile)
c.6561G>T (p.Met2187Ile)
c.6534G>T (p.Met2178Ile)
c.6810G>T (p.Met2270Ile)
c.6807G>T (p.Met2269Ile)
n.7245G>T
c.6942G>T (p.Met2314Ile)
c.6939G>T (p.Met2313Ile)
c.6921G>T (p.Met2307Ile)
c.6831G>T (p.Met2277Ile)
c.6693G>T (p.Met2231Ile)
Xg.53568838C=CA2429880772HUWE1c.6558G= (p.Met2186=)
c.6561G= (p.Met2187=)
c.6534G= (p.Met2178=)
c.6810G= (p.Met2270=)
c.6807G= (p.Met2269=)
n.7245G=
c.6942G= (p.Met2314=)
c.6939G= (p.Met2313=)
c.6921G= (p.Met2307=)
c.6831G= (p.Met2277=)
c.6693G= (p.Met2231=)
Xg.53568838C>GCA413164073HUWE1c.6558G>C (p.Met2186Ile)
c.6561G>C (p.Met2187Ile)
c.6534G>C (p.Met2178Ile)
c.6810G>C (p.Met2270Ile)
c.6807G>C (p.Met2269Ile)
n.7245G>C
c.6942G>C (p.Met2314Ile)
c.6939G>C (p.Met2313Ile)
c.6921G>C (p.Met2307Ile)
c.6831G>C (p.Met2277Ile)
c.6693G>C (p.Met2231Ile)
Xg.53568838C>TCA413164069HUWE1c.6558G>A (p.Met2186Ile)
c.6561G>A (p.Met2187Ile)
c.6534G>A (p.Met2178Ile)
c.6810G>A (p.Met2270Ile)
c.6807G>A (p.Met2269Ile)
n.7245G>A
c.6942G>A (p.Met2314Ile)
c.6939G>A (p.Met2313Ile)
c.6921G>A (p.Met2307Ile)
c.6831G>A (p.Met2277Ile)
c.6693G>A (p.Met2231Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.53568839A>CCA413164076HUWE1c.6557T>G (p.Met2186Arg)
c.6560T>G (p.Met2187Arg)
c.6533T>G (p.Met2178Arg)
c.6809T>G (p.Met2270Arg)
c.6806T>G (p.Met2269Arg)
n.7244T>G
c.6941T>G (p.Met2314Arg)
c.6938T>G (p.Met2313Arg)
c.6920T>G (p.Met2307Arg)
c.6830T>G (p.Met2277Arg)
c.6692T>G (p.Met2231Arg)
Xg.53568839A>GCA413164081HUWE1c.6557T>C (p.Met2186Thr)
c.6560T>C (p.Met2187Thr)
c.6533T>C (p.Met2178Thr)
c.6809T>C (p.Met2270Thr)
c.6806T>C (p.Met2269Thr)
n.7244T>C
c.6941T>C (p.Met2314Thr)
c.6938T>C (p.Met2313Thr)
c.6920T>C (p.Met2307Thr)
c.6830T>C (p.Met2277Thr)
c.6692T>C (p.Met2231Thr)
 gnomAD v4
Xg.53568839A>TCA413164084HUWE1c.6557T>A (p.Met2186Lys)
c.6560T>A (p.Met2187Lys)
c.6533T>A (p.Met2178Lys)
c.6809T>A (p.Met2270Lys)
c.6806T>A (p.Met2269Lys)
n.7244T>A
c.6941T>A (p.Met2314Lys)
c.6938T>A (p.Met2313Lys)
c.6920T>A (p.Met2307Lys)
c.6830T>A (p.Met2277Lys)
c.6692T>A (p.Met2231Lys)
Xg.53568840T>ACA413164087HUWE1c.6556A>T (p.Met2186Leu)
c.6559A>T (p.Met2187Leu)
c.6532A>T (p.Met2178Leu)
c.6808A>T (p.Met2270Leu)
c.6805A>T (p.Met2269Leu)
n.7243A>T
c.6940A>T (p.Met2314Leu)
c.6937A>T (p.Met2313Leu)
c.6919A>T (p.Met2307Leu)
c.6829A>T (p.Met2277Leu)
c.6691A>T (p.Met2231Leu)
Xg.53568840T>CCA413164090HUWE1c.6556A>G (p.Met2186Val)
c.6559A>G (p.Met2187Val)
c.6532A>G (p.Met2178Val)
c.6808A>G (p.Met2270Val)
c.6805A>G (p.Met2269Val)
n.7243A>G
c.6940A>G (p.Met2314Val)
c.6937A>G (p.Met2313Val)
c.6919A>G (p.Met2307Val)
c.6829A>G (p.Met2277Val)
c.6691A>G (p.Met2231Val)
Xg.53568840T>GCA413164093HUWE1c.6556A>C (p.Met2186Leu)
c.6559A>C (p.Met2187Leu)
c.6532A>C (p.Met2178Leu)
c.6808A>C (p.Met2270Leu)
c.6805A>C (p.Met2269Leu)
n.7243A>C
c.6940A>C (p.Met2314Leu)
c.6937A>C (p.Met2313Leu)
c.6919A>C (p.Met2307Leu)
c.6829A>C (p.Met2277Leu)
c.6691A>C (p.Met2231Leu)
Xg.53568841G>ACA516433802HUWE1c.6555C>T (p.Ile2185=)
c.6558C>T (p.Ile2186=)
c.6531C>T (p.Ile2177=)
c.6807C>T (p.Ile2269=)
c.6804C>T (p.Ile2268=)
n.7242C>T
c.6939C>T (p.Ile2313=)
c.6936C>T (p.Ile2312=)
c.6918C>T (p.Ile2306=)
c.6828C>T (p.Ile2276=)
c.6690C>T (p.Ile2230=)
 gnomAD v4
Xg.53568841G>CCA413164098HUWE1c.6555C>G (p.Ile2185Met)
c.6558C>G (p.Ile2186Met)
c.6531C>G (p.Ile2177Met)
c.6807C>G (p.Ile2269Met)
c.6804C>G (p.Ile2268Met)
n.7242C>G
c.6939C>G (p.Ile2313Met)
c.6936C>G (p.Ile2312Met)
c.6918C>G (p.Ile2306Met)
c.6828C>G (p.Ile2276Met)
c.6690C>G (p.Ile2230Met)
 gnomAD v4
Xg.53568841G>TCA516433804HUWE1c.6555C>A (p.Ile2185=)
c.6558C>A (p.Ile2186=)
c.6531C>A (p.Ile2177=)
c.6807C>A (p.Ile2269=)
c.6804C>A (p.Ile2268=)
n.7242C>A
c.6939C>A (p.Ile2313=)
c.6936C>A (p.Ile2312=)
c.6918C>A (p.Ile2306=)
c.6828C>A (p.Ile2276=)
c.6690C>A (p.Ile2230=)
Xg.53568842A>CCA413164112HUWE1c.6554T>G (p.Ile2185Ser)
c.6557T>G (p.Ile2186Ser)
c.6530T>G (p.Ile2177Ser)
c.6806T>G (p.Ile2269Ser)
c.6803T>G (p.Ile2268Ser)
n.7241T>G
c.6938T>G (p.Ile2313Ser)
c.6935T>G (p.Ile2312Ser)
c.6917T>G (p.Ile2306Ser)
c.6827T>G (p.Ile2276Ser)
c.6689T>G (p.Ile2230Ser)
Xg.53568842A>GCA413164113HUWE1c.6554T>C (p.Ile2185Thr)
c.6557T>C (p.Ile2186Thr)
c.6530T>C (p.Ile2177Thr)
c.6806T>C (p.Ile2269Thr)
c.6803T>C (p.Ile2268Thr)
n.7241T>C
c.6938T>C (p.Ile2313Thr)
c.6935T>C (p.Ile2312Thr)
c.6917T>C (p.Ile2306Thr)
c.6827T>C (p.Ile2276Thr)
c.6689T>C (p.Ile2230Thr)
Xg.53568842A>TCA413164117HUWE1c.6554T>A (p.Ile2185Asn)
c.6557T>A (p.Ile2186Asn)
c.6530T>A (p.Ile2177Asn)
c.6806T>A (p.Ile2269Asn)
c.6803T>A (p.Ile2268Asn)
n.7241T>A
c.6938T>A (p.Ile2313Asn)
c.6935T>A (p.Ile2312Asn)
c.6917T>A (p.Ile2306Asn)
c.6827T>A (p.Ile2276Asn)
c.6689T>A (p.Ile2230Asn)

Number of alleles fetched