| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53568735C>A | CA16609195 | HUWE1 | c.6661G>T (p.Val2221Phe) c.6664G>T (p.Val2222Phe) c.6637G>T (p.Val2213Phe) c.6913G>T (p.Val2305Phe) c.6910G>T (p.Val2304Phe) n.7348G>T c.7045G>T (p.Val2349Phe) c.7042G>T (p.Val2348Phe) c.7024G>T (p.Val2342Phe) c.6934G>T (p.Val2312Phe) c.6796G>T (p.Val2266Phe) | ClinVar dbSNP |
| X | g.53568735C= | CA2429880750 | HUWE1 | c.6661G= (p.Val2221=) c.6664G= (p.Val2222=) c.6637G= (p.Val2213=) c.6913G= (p.Val2305=) c.6910G= (p.Val2304=) n.7348G= c.7045G= (p.Val2349=) c.7042G= (p.Val2348=) c.7024G= (p.Val2342=) c.6934G= (p.Val2312=) c.6796G= (p.Val2266=) | |
| X | g.53568735C>G | CA413163223 | HUWE1 | c.6661G>C (p.Val2221Leu) c.6664G>C (p.Val2222Leu) c.6637G>C (p.Val2213Leu) c.6913G>C (p.Val2305Leu) c.6910G>C (p.Val2304Leu) n.7348G>C c.7045G>C (p.Val2349Leu) c.7042G>C (p.Val2348Leu) c.7024G>C (p.Val2342Leu) c.6934G>C (p.Val2312Leu) c.6796G>C (p.Val2266Leu) | |
| X | g.53568735C>T | CA413163225 | HUWE1 | c.6661G>A (p.Val2221Ile) c.6664G>A (p.Val2222Ile) c.6637G>A (p.Val2213Ile) c.6913G>A (p.Val2305Ile) c.6910G>A (p.Val2304Ile) n.7348G>A c.7045G>A (p.Val2349Ile) c.7042G>A (p.Val2348Ile) c.7024G>A (p.Val2342Ile) c.6934G>A (p.Val2312Ile) c.6796G>A (p.Val2266Ile) | |
| X | g.53568736C>A | CA516433642 | HUWE1 | c.6660G>T (p.Leu2220=) c.6663G>T (p.Leu2221=) c.6636G>T (p.Leu2212=) c.6912G>T (p.Leu2304=) c.6909G>T (p.Leu2303=) n.7347G>T c.7044G>T (p.Leu2348=) c.7041G>T (p.Leu2347=) c.7023G>T (p.Leu2341=) c.6933G>T (p.Leu2311=) c.6795G>T (p.Leu2265=) | |
| X | g.53568736C>G | CA516433643 | HUWE1 | c.6660G>C (p.Leu2220=) c.6663G>C (p.Leu2221=) c.6636G>C (p.Leu2212=) c.6912G>C (p.Leu2304=) c.6909G>C (p.Leu2303=) n.7347G>C c.7044G>C (p.Leu2348=) c.7041G>C (p.Leu2347=) c.7023G>C (p.Leu2341=) c.6933G>C (p.Leu2311=) c.6795G>C (p.Leu2265=) | |
| X | g.53568736C>T | CA516433644 | HUWE1 | c.6660G>A (p.Leu2220=) c.6663G>A (p.Leu2221=) c.6636G>A (p.Leu2212=) c.6912G>A (p.Leu2304=) c.6909G>A (p.Leu2303=) n.7347G>A c.7044G>A (p.Leu2348=) c.7041G>A (p.Leu2347=) c.7023G>A (p.Leu2341=) c.6933G>A (p.Leu2311=) c.6795G>A (p.Leu2265=) | |
| X | g.53568737A>C | CA413163228 | HUWE1 | c.6659T>G (p.Leu2220Arg) c.6662T>G (p.Leu2221Arg) c.6635T>G (p.Leu2212Arg) c.6911T>G (p.Leu2304Arg) c.6908T>G (p.Leu2303Arg) n.7346T>G c.7043T>G (p.Leu2348Arg) c.7040T>G (p.Leu2347Arg) c.7022T>G (p.Leu2341Arg) c.6932T>G (p.Leu2311Arg) c.6794T>G (p.Leu2265Arg) | |
| X | g.53568737A>G | CA413163229 | HUWE1 | c.6659T>C (p.Leu2220Pro) c.6662T>C (p.Leu2221Pro) c.6635T>C (p.Leu2212Pro) c.6911T>C (p.Leu2304Pro) c.6908T>C (p.Leu2303Pro) n.7346T>C c.7043T>C (p.Leu2348Pro) c.7040T>C (p.Leu2347Pro) c.7022T>C (p.Leu2341Pro) c.6932T>C (p.Leu2311Pro) c.6794T>C (p.Leu2265Pro) | |
| X | g.53568737A>T | CA413163231 | HUWE1 | c.6659T>A (p.Leu2220Gln) c.6662T>A (p.Leu2221Gln) c.6635T>A (p.Leu2212Gln) c.6911T>A (p.Leu2304Gln) c.6908T>A (p.Leu2303Gln) n.7346T>A c.7043T>A (p.Leu2348Gln) c.7040T>A (p.Leu2347Gln) c.7022T>A (p.Leu2341Gln) c.6932T>A (p.Leu2311Gln) c.6794T>A (p.Leu2265Gln) | |
| X | g.53568738G>A | CA516433645 | HUWE1 | c.6658C>T (p.Leu2220=) c.6661C>T (p.Leu2221=) c.6634C>T (p.Leu2212=) c.6910C>T (p.Leu2304=) c.6907C>T (p.Leu2303=) n.7345C>T c.7042C>T (p.Leu2348=) c.7039C>T (p.Leu2347=) c.7021C>T (p.Leu2341=) c.6931C>T (p.Leu2311=) c.6793C>T (p.Leu2265=) | |
| X | g.53568738G>C | CA413163232 | HUWE1 | c.6658C>G (p.Leu2220Val) c.6661C>G (p.Leu2221Val) c.6634C>G (p.Leu2212Val) c.6910C>G (p.Leu2304Val) c.6907C>G (p.Leu2303Val) n.7345C>G c.7042C>G (p.Leu2348Val) c.7039C>G (p.Leu2347Val) c.7021C>G (p.Leu2341Val) c.6931C>G (p.Leu2311Val) c.6793C>G (p.Leu2265Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53568738G= | CA2429880751 | HUWE1 | c.6658C= (p.Leu2220=) c.6661C= (p.Leu2221=) c.6634C= (p.Leu2212=) c.6910C= (p.Leu2304=) c.6907C= (p.Leu2303=) n.7345C= c.7042C= (p.Leu2348=) c.7039C= (p.Leu2347=) c.7021C= (p.Leu2341=) c.6931C= (p.Leu2311=) c.6793C= (p.Leu2265=) | |
| X | g.53568738G>T | CA413163234 | HUWE1 | c.6658C>A (p.Leu2220Met) c.6661C>A (p.Leu2221Met) c.6634C>A (p.Leu2212Met) c.6910C>A (p.Leu2304Met) c.6907C>A (p.Leu2303Met) n.7345C>A c.7042C>A (p.Leu2348Met) c.7039C>A (p.Leu2347Met) c.7021C>A (p.Leu2341Met) c.6931C>A (p.Leu2311Met) c.6793C>A (p.Leu2265Met) | |
| X | g.53568739T>A | CA516433646 | HUWE1 | c.6657A>T (p.Gly2219=) c.6660A>T (p.Gly2220=) c.6633A>T (p.Gly2211=) c.6909A>T (p.Gly2303=) c.6906A>T (p.Gly2302=) n.7344A>T c.7041A>T (p.Gly2347=) c.7038A>T (p.Gly2346=) c.7020A>T (p.Gly2340=) c.6930A>T (p.Gly2310=) c.6792A>T (p.Gly2264=) | |
| X | g.53568739T>C | CA516433647 | HUWE1 | c.6657A>G (p.Gly2219=) c.6660A>G (p.Gly2220=) c.6633A>G (p.Gly2211=) c.6909A>G (p.Gly2303=) c.6906A>G (p.Gly2302=) n.7344A>G c.7041A>G (p.Gly2347=) c.7038A>G (p.Gly2346=) c.7020A>G (p.Gly2340=) c.6930A>G (p.Gly2310=) c.6792A>G (p.Gly2264=) | |
| X | g.53568739T>G | CA516433648 | HUWE1 | c.6657A>C (p.Gly2219=) c.6660A>C (p.Gly2220=) c.6633A>C (p.Gly2211=) c.6909A>C (p.Gly2303=) c.6906A>C (p.Gly2302=) n.7344A>C c.7041A>C (p.Gly2347=) c.7038A>C (p.Gly2346=) c.7020A>C (p.Gly2340=) c.6930A>C (p.Gly2310=) c.6792A>C (p.Gly2264=) | |
| X | g.53568740C>A | CA413163235 | HUWE1 | c.6656G>T (p.Gly2219Val) c.6659G>T (p.Gly2220Val) c.6632G>T (p.Gly2211Val) c.6908G>T (p.Gly2303Val) c.6905G>T (p.Gly2302Val) n.7343G>T c.7040G>T (p.Gly2347Val) c.7037G>T (p.Gly2346Val) c.7019G>T (p.Gly2340Val) c.6929G>T (p.Gly2310Val) c.6791G>T (p.Gly2264Val) | |
| X | g.53568740C>G | CA413163239 | HUWE1 | c.6656G>C (p.Gly2219Ala) c.6659G>C (p.Gly2220Ala) c.6632G>C (p.Gly2211Ala) c.6908G>C (p.Gly2303Ala) c.6905G>C (p.Gly2302Ala) n.7343G>C c.7040G>C (p.Gly2347Ala) c.7037G>C (p.Gly2346Ala) c.7019G>C (p.Gly2340Ala) c.6929G>C (p.Gly2310Ala) c.6791G>C (p.Gly2264Ala) | |
| X | g.53568740C>T | CA413163241 | HUWE1 | c.6656G>A (p.Gly2219Glu) c.6659G>A (p.Gly2220Glu) c.6632G>A (p.Gly2211Glu) c.6908G>A (p.Gly2303Glu) c.6905G>A (p.Gly2302Glu) n.7343G>A c.7040G>A (p.Gly2347Glu) c.7037G>A (p.Gly2346Glu) c.7019G>A (p.Gly2340Glu) c.6929G>A (p.Gly2310Glu) c.6791G>A (p.Gly2264Glu) | |
| X | g.53568741C>A | CA413163246 | HUWE1 | c.6655G>T (p.Gly2219Ter) c.6658G>T (p.Gly2220Ter) c.6631G>T (p.Gly2211Ter) c.6907G>T (p.Gly2303Ter) c.6904G>T (p.Gly2302Ter) n.7342G>T c.7039G>T (p.Gly2347Ter) c.7036G>T (p.Gly2346Ter) c.7018G>T (p.Gly2340Ter) c.6928G>T (p.Gly2310Ter) c.6790G>T (p.Gly2264Ter) | |
| X | g.53568741C>G | CA413163248 | HUWE1 | c.6655G>C (p.Gly2219Arg) c.6658G>C (p.Gly2220Arg) c.6631G>C (p.Gly2211Arg) c.6907G>C (p.Gly2303Arg) c.6904G>C (p.Gly2302Arg) n.7342G>C c.7039G>C (p.Gly2347Arg) c.7036G>C (p.Gly2346Arg) c.7018G>C (p.Gly2340Arg) c.6928G>C (p.Gly2310Arg) c.6790G>C (p.Gly2264Arg) | |
| X | g.53568741C>T | CA413163247 | HUWE1 | c.6655G>A (p.Gly2219Arg) c.6658G>A (p.Gly2220Arg) c.6631G>A (p.Gly2211Arg) c.6907G>A (p.Gly2303Arg) c.6904G>A (p.Gly2302Arg) n.7342G>A c.7039G>A (p.Gly2347Arg) c.7036G>A (p.Gly2346Arg) c.7018G>A (p.Gly2340Arg) c.6928G>A (p.Gly2310Arg) c.6790G>A (p.Gly2264Arg) | |
| X | g.53568742C>A | CA413163249 | HUWE1 | c.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) | |
| X | g.53568742C>G | CA413163250 | HUWE1 | c.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) | |
| X | g.53568742C>T | CA516433649 | HUWE1 | c.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=) | |
| X | g.53568743T>A | CA413163251 | HUWE1 | c.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) | |
| X | g.53568743T>C | CA413163252 | HUWE1 | c.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 |
| X | g.53568743T>G | CA413163255 | HUWE1 | c.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) | |
| X | g.53568743T= | CA2429880752 | HUWE1 | c.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=) | |
| X | g.53568744T>A | CA413163258 | HUWE1 | c.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) | |
| X | g.53568744T>C | CA413163260 | HUWE1 | c.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) | |
| X | g.53568744T>G | CA413163264 | HUWE1 | c.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) | |
| X | g.53568745C>A | CA413163274 | HUWE1 | c.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) | |
| X | g.53568745C= | CA2429880753 | HUWE1 | c.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=) | |
| X | g.53568745C>G | CA413163276 | HUWE1 | c.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) | |
| X | g.53568745C>T | CA516433650 | HUWE1 | c.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 |
| X | g.53568746T>A | CA413163281 | HUWE1 | c.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) | |
| X | g.53568746T>C | CA413163284 | HUWE1 | c.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 |
| X | g.53568746T>G | CA413163287 | HUWE1 | c.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) | |
| X | g.53568747T>A | CA413163289 | HUWE1 | c.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) | |
| X | g.53568747T>C | CA413163293 | HUWE1 | c.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 |
| X | g.53568747T>G | CA413163291 | HUWE1 | c.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) | |
| X | g.53568748C>A | CA516433651 | HUWE1 | c.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=) | |
| X | g.53568748C>G | CA516433653 | HUWE1 | c.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=) | |
| X | g.53568748C>T | CA516433652 | HUWE1 | c.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=) | |
| X | g.53568749A>C | CA413163297 | HUWE1 | c.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) | |
| X | g.53568749A>G | CA413163303 | HUWE1 | c.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) | |
| X | g.53568749A>T | CA413163305 | HUWE1 | c.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) | |
| X | g.53568750G>A | CA516433654 | HUWE1 | c.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=) |