| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48511381del | CA516010047 | PORCN | c.223del (p.Val75SerfsTer?) n.382del n.405del c.152del (p.Gly51ValfsTer?) c.88del (p.Val30SerfsTer?) c.137-511del (n.137-511del) c.344del (p.Gly115ValfsTer?) n.262del c.10del (p.Val4SerfsTer?) c.562del (p.Val188SerfsTer?) c.475del (p.Val159SerfsTer?) c.328del (p.Val110SerfsTer?) c.274del (p.Val92SerfsTer?) | COSMIC |
| X | g.48511380G>A | CA255495 | PORCN | c.222G>A (p.Trp74Ter) n.381G>A n.404G>A c.151G>A (p.Gly51Ser) c.87G>A (p.Trp29Ter) c.137-512G>A (n.137-512G>A) c.343G>A (p.Gly115Ser) n.261G>A c.9G>A (p.Trp3Ter) c.561G>A (p.Trp187Ter) c.474G>A (p.Trp158Ter) c.327G>A (p.Trp109Ter) c.273G>A (p.Trp91Ter) | ClinVar dbSNP |
| X | g.48511380G>C | CA412842019 | PORCN | c.222G>C (p.Trp74Cys) n.381G>C n.404G>C c.151G>C (p.Gly51Arg) c.87G>C (p.Trp29Cys) c.137-512G>C (n.137-512G>C) c.343G>C (p.Gly115Arg) n.261G>C c.9G>C (p.Trp3Cys) c.561G>C (p.Trp187Cys) c.474G>C (p.Trp158Cys) c.327G>C (p.Trp109Cys) c.273G>C (p.Trp91Cys) | |
| X | g.48511380G= | CA2428293302 | PORCN | c.222G= (p.Trp74=) n.381G= n.404G= c.151G= (p.Gly51=) c.87G= (p.Trp29=) c.137-512G= (n.137-512G=) c.343G= (p.Gly115=) n.261G= c.9G= (p.Trp3=) c.561G= (p.Trp187=) c.474G= (p.Trp158=) c.327G= (p.Trp109=) c.273G= (p.Trp91=) | |
| X | g.48511380G>T | CA412842018 | PORCN | c.222G>T (p.Trp74Cys) n.381G>T n.404G>T c.151G>T (p.Gly51Cys) c.87G>T (p.Trp29Cys) c.137-512G>T (n.137-512G>T) c.343G>T (p.Gly115Cys) n.261G>T c.9G>T (p.Trp3Cys) c.561G>T (p.Trp187Cys) c.474G>T (p.Trp158Cys) c.327G>T (p.Trp109Cys) c.273G>T (p.Trp91Cys) | |
| X | g.48511381G>A | CA412842020 | PORCN | c.223G>A (p.Val75Ile) n.382G>A n.405G>A c.152G>A (p.Gly51Asp) c.88G>A (p.Val30Ile) c.137-511G>A (n.137-511G>A) c.344G>A (p.Gly115Asp) n.262G>A c.10G>A (p.Val4Ile) c.562G>A (p.Val188Ile) c.475G>A (p.Val159Ile) c.328G>A (p.Val110Ile) c.274G>A (p.Val92Ile) | gnomAD v4 |
| X | g.48511381G>C | CA412842021 | PORCN | c.223G>C (p.Val75Leu) n.382G>C n.405G>C c.152G>C (p.Gly51Ala) c.88G>C (p.Val30Leu) c.137-511G>C (n.137-511G>C) c.344G>C (p.Gly115Ala) n.262G>C c.10G>C (p.Val4Leu) c.562G>C (p.Val188Leu) c.475G>C (p.Val159Leu) c.328G>C (p.Val110Leu) c.274G>C (p.Val92Leu) | |
| X | g.48511381G>T | CA412842022 | PORCN | c.223G>T (p.Val75Phe) n.382G>T n.405G>T c.152G>T (p.Gly51Val) c.88G>T (p.Val30Phe) c.137-511G>T (n.137-511G>T) c.344G>T (p.Gly115Val) n.262G>T c.10G>T (p.Val4Phe) c.562G>T (p.Val188Phe) c.475G>T (p.Val159Phe) c.328G>T (p.Val110Phe) c.274G>T (p.Val92Phe) | |
| X | g.48511382T>A | CA412842023 | PORCN | c.224T>A (p.Val75Asp) n.383T>A n.406T>A c.153T>A (p.Gly51=) c.89T>A (p.Val30Asp) c.137-510T>A (n.137-510T>A) c.345T>A (p.Gly115=) n.263T>A c.11T>A (p.Val4Asp) c.563T>A (p.Val188Asp) c.476T>A (p.Val159Asp) c.329T>A (p.Val110Asp) c.275T>A (p.Val92Asp) | |
| X | g.48511382T>C | CA412842024 | PORCN | c.224T>C (p.Val75Ala) n.383T>C n.406T>C c.153T>C (p.Gly51=) c.89T>C (p.Val30Ala) c.137-510T>C (n.137-510T>C) c.345T>C (p.Gly115=) n.263T>C c.11T>C (p.Val4Ala) c.563T>C (p.Val188Ala) c.476T>C (p.Val159Ala) c.329T>C (p.Val110Ala) c.275T>C (p.Val92Ala) | |
| X | g.48511382T>G | CA412842025 | PORCN | c.224T>G (p.Val75Gly) n.383T>G n.406T>G c.153T>G (p.Gly51=) c.89T>G (p.Val30Gly) c.137-510T>G (n.137-510T>G) c.345T>G (p.Gly115=) n.263T>G c.11T>G (p.Val4Gly) c.563T>G (p.Val188Gly) c.476T>G (p.Val159Gly) c.329T>G (p.Val110Gly) c.275T>G (p.Val92Gly) | |
| X | g.48511383C>A | CA516010067 | PORCN | c.225C>A (p.Val75=) n.384C>A n.407C>A c.154C>A (p.Arg52Ser) c.90C>A (p.Val30=) c.137-509C>A (n.137-509C>A) c.346C>A (p.Arg116Ser) n.264C>A c.12C>A (p.Val4=) c.564C>A (p.Val188=) c.477C>A (p.Val159=) c.330C>A (p.Val110=) c.276C>A (p.Val92=) | dbSNP |
| X | g.48511383C= | CA2428293303 | PORCN | c.225C= (p.Val75=) n.384C= n.407C= c.154C= (p.Arg52=) c.90C= (p.Val30=) c.137-509C= (n.137-509C=) c.346C= (p.Arg116=) n.264C= c.12C= (p.Val4=) c.564C= (p.Val188=) c.477C= (p.Val159=) c.330C= (p.Val110=) c.276C= (p.Val92=) | |
| X | g.48511383C>G | CA516010068 | PORCN | c.225C>G (p.Val75=) n.384C>G n.407C>G c.154C>G (p.Arg52Gly) c.90C>G (p.Val30=) c.137-509C>G (n.137-509C>G) c.346C>G (p.Arg116Gly) n.264C>G c.12C>G (p.Val4=) c.564C>G (p.Val188=) c.477C>G (p.Val159=) c.330C>G (p.Val110=) c.276C>G (p.Val92=) | |
| X | g.48511383C>T | CA10402711 | PORCN | c.225C>T (p.Val75=) n.384C>T n.407C>T c.154C>T (p.Arg52Cys) c.90C>T (p.Val30=) c.137-509C>T (n.137-509C>T) c.346C>T (p.Arg116Cys) n.264C>T c.12C>T (p.Val4=) c.564C>T (p.Val188=) c.477C>T (p.Val159=) c.330C>T (p.Val110=) c.276C>T (p.Val92=) | dbSNP ExAC gnomAD v4 COSMIC |
| X | g.48511384G>A | CA412842026 | PORCN | c.226G>A (p.Val76Met) n.385G>A n.408G>A c.155G>A (p.Arg52His) c.91G>A (p.Val31Met) c.137-508G>A (n.137-508G>A) c.347G>A (p.Arg116His) n.265G>A c.13G>A (p.Val5Met) c.565G>A (p.Val189Met) c.478G>A (p.Val160Met) c.331G>A (p.Val111Met) c.277G>A (p.Val93Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.48511384G>C | CA412842027 | PORCN | c.226G>C (p.Val76Leu) n.385G>C n.408G>C c.155G>C (p.Arg52Pro) c.91G>C (p.Val31Leu) c.137-508G>C (n.137-508G>C) c.347G>C (p.Arg116Pro) n.265G>C c.13G>C (p.Val5Leu) c.565G>C (p.Val189Leu) c.478G>C (p.Val160Leu) c.331G>C (p.Val111Leu) c.277G>C (p.Val93Leu) | |
| X | g.48511384G= | CA2428293304 | PORCN | c.226G= (p.Val76=) n.385G= n.408G= c.155G= (p.Arg52=) c.91G= (p.Val31=) c.137-508G= (n.137-508G=) c.347G= (p.Arg116=) n.265G= c.13G= (p.Val5=) c.565G= (p.Val189=) c.478G= (p.Val160=) c.331G= (p.Val111=) c.277G= (p.Val93=) | |
| X | g.48511384G>T | CA412842028 | PORCN | c.226G>T (p.Val76Leu) n.385G>T n.408G>T c.155G>T (p.Arg52Leu) c.91G>T (p.Val31Leu) c.137-508G>T (n.137-508G>T) c.347G>T (p.Arg116Leu) n.265G>T c.13G>T (p.Val5Leu) c.565G>T (p.Val189Leu) c.478G>T (p.Val160Leu) c.331G>T (p.Val111Leu) c.277G>T (p.Val93Leu) | |
| X | g.48511385T>A | CA412842030 | PORCN | c.227T>A (p.Val76Glu) n.386T>A n.409T>A c.156T>A (p.Arg52=) c.92T>A (p.Val31Glu) c.137-507T>A (n.137-507T>A) c.348T>A (p.Arg116=) n.266T>A c.14T>A (p.Val5Glu) c.566T>A (p.Val189Glu) c.479T>A (p.Val160Glu) c.332T>A (p.Val111Glu) c.278T>A (p.Val93Glu) | |
| X | g.48511385T>C | CA412842032 | PORCN | c.227T>C (p.Val76Ala) n.386T>C n.409T>C c.156T>C (p.Arg52=) c.92T>C (p.Val31Ala) c.137-507T>C (n.137-507T>C) c.348T>C (p.Arg116=) n.266T>C c.14T>C (p.Val5Ala) c.566T>C (p.Val189Ala) c.479T>C (p.Val160Ala) c.332T>C (p.Val111Ala) c.278T>C (p.Val93Ala) | |
| X | g.48511385T>G | CA412842033 | PORCN | c.227T>G (p.Val76Gly) n.386T>G n.409T>G c.156T>G (p.Arg52=) c.92T>G (p.Val31Gly) c.137-507T>G (n.137-507T>G) c.348T>G (p.Arg116=) n.266T>G c.14T>G (p.Val5Gly) c.566T>G (p.Val189Gly) c.479T>G (p.Val160Gly) c.332T>G (p.Val111Gly) c.278T>G (p.Val93Gly) | |
| X | g.48511386G>A | CA516010087 | PORCN | c.228G>A (p.Val76=) n.387G>A n.410G>A c.157G>A (p.Ala53Thr) c.93G>A (p.Val31=) c.137-506G>A (n.137-506G>A) c.349G>A (p.Ala117Thr) n.267G>A c.15G>A (p.Val5=) c.567G>A (p.Val189=) c.480G>A (p.Val160=) c.333G>A (p.Val111=) c.279G>A (p.Val93=) | |
| X | g.48511386G>C | CA516010085 | PORCN | c.228G>C (p.Val76=) n.387G>C n.410G>C c.157G>C (p.Ala53Pro) c.93G>C (p.Val31=) c.137-506G>C (n.137-506G>C) c.349G>C (p.Ala117Pro) n.267G>C c.15G>C (p.Val5=) c.567G>C (p.Val189=) c.480G>C (p.Val160=) c.333G>C (p.Val111=) c.279G>C (p.Val93=) | |
| X | g.48511386G>T | CA516010083 | PORCN | c.228G>T (p.Val76=) n.387G>T n.410G>T c.157G>T (p.Ala53Ser) c.93G>T (p.Val31=) c.137-506G>T (n.137-506G>T) c.349G>T (p.Ala117Ser) n.267G>T c.15G>T (p.Val5=) c.567G>T (p.Val189=) c.480G>T (p.Val160=) c.333G>T (p.Val111=) c.279G>T (p.Val93=) | |
| X | g.48511387C>A | CA412842035 | PORCN | c.229C>A (p.Leu77Met) n.388C>A n.411C>A c.158C>A (p.Ala53Asp) c.94C>A (p.Leu32Met) c.137-505C>A (n.137-505C>A) c.350C>A (p.Ala117Asp) n.268C>A c.16C>A (p.Leu6Met) c.568C>A (p.Leu190Met) c.481C>A (p.Leu161Met) c.334C>A (p.Leu112Met) c.280C>A (p.Leu94Met) | |
| X | g.48511387C>G | CA412842037 | PORCN | c.229C>G (p.Leu77Val) n.388C>G n.411C>G c.158C>G (p.Ala53Gly) c.94C>G (p.Leu32Val) c.137-505C>G (n.137-505C>G) c.350C>G (p.Ala117Gly) n.268C>G c.16C>G (p.Leu6Val) c.568C>G (p.Leu190Val) c.481C>G (p.Leu161Val) c.334C>G (p.Leu112Val) c.280C>G (p.Leu94Val) | |
| X | g.48511387C>T | CA516010090 | PORCN | c.229C>T (p.Leu77=) n.388C>T n.411C>T c.158C>T (p.Ala53Val) c.94C>T (p.Leu32=) c.137-505C>T (n.137-505C>T) c.350C>T (p.Ala117Val) n.268C>T c.16C>T (p.Leu6=) c.568C>T (p.Leu190=) c.481C>T (p.Leu161=) c.334C>T (p.Leu112=) c.280C>T (p.Leu94=) | |
| X | g.48511388T>A | CA412842039 | PORCN | c.230T>A (p.Leu77Gln) n.389T>A n.412T>A c.159T>A (p.Ala53=) c.95T>A (p.Leu32Gln) c.137-504T>A (n.137-504T>A) c.351T>A (p.Ala117=) n.269T>A c.17T>A (p.Leu6Gln) c.569T>A (p.Leu190Gln) c.482T>A (p.Leu161Gln) c.335T>A (p.Leu112Gln) c.281T>A (p.Leu94Gln) | |
| X | g.48511388T>C | CA412842041 | PORCN | c.230T>C (p.Leu77Pro) n.389T>C n.412T>C c.159T>C (p.Ala53=) c.95T>C (p.Leu32Pro) c.137-504T>C (n.137-504T>C) c.351T>C (p.Ala117=) n.269T>C c.17T>C (p.Leu6Pro) c.569T>C (p.Leu190Pro) c.482T>C (p.Leu161Pro) c.335T>C (p.Leu112Pro) c.281T>C (p.Leu94Pro) | |
| X | g.48511388T>G | CA412842042 | PORCN | c.230T>G (p.Leu77Arg) n.389T>G n.412T>G c.159T>G (p.Ala53=) c.95T>G (p.Leu32Arg) c.137-504T>G (n.137-504T>G) c.351T>G (p.Ala117=) n.269T>G c.17T>G (p.Leu6Arg) c.569T>G (p.Leu190Arg) c.482T>G (p.Leu161Arg) c.335T>G (p.Leu112Arg) c.281T>G (p.Leu94Arg) | |
| X | g.48511389G>A | CA10402712 | PORCN | c.231G>A (p.Leu77=) n.390G>A n.413G>A c.160G>A (p.Ala54Thr) c.96G>A (p.Leu32=) c.137-503G>A (n.137-503G>A) c.352G>A (p.Ala118Thr) n.270G>A c.18G>A (p.Leu6=) c.570G>A (p.Leu190=) c.483G>A (p.Leu161=) c.336G>A (p.Leu112=) c.282G>A (p.Leu94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48511389G>C | CA516010099 | PORCN | c.231G>C (p.Leu77=) n.390G>C n.413G>C c.160G>C (p.Ala54Pro) c.96G>C (p.Leu32=) c.137-503G>C (n.137-503G>C) c.352G>C (p.Ala118Pro) n.270G>C c.18G>C (p.Leu6=) c.570G>C (p.Leu190=) c.483G>C (p.Leu161=) c.336G>C (p.Leu112=) c.282G>C (p.Leu94=) | |
| X | g.48511389G= | CA2428293305 | PORCN | c.231G= (p.Leu77=) n.390G= n.413G= c.160G= (p.Ala54=) c.96G= (p.Leu32=) c.137-503G= (n.137-503G=) c.352G= (p.Ala118=) n.270G= c.18G= (p.Leu6=) c.570G= (p.Leu190=) c.483G= (p.Leu161=) c.336G= (p.Leu112=) c.282G= (p.Leu94=) | |
| X | g.48511389G>T | CA516010103 | PORCN | c.231G>T (p.Leu77=) n.390G>T n.413G>T c.160G>T (p.Ala54Ser) c.96G>T (p.Leu32=) c.137-503G>T (n.137-503G>T) c.352G>T (p.Ala118Ser) n.270G>T c.18G>T (p.Leu6=) c.570G>T (p.Leu190=) c.483G>T (p.Leu161=) c.336G>T (p.Leu112=) c.282G>T (p.Leu94=) | |
| X | g.48511390C>A | CA412842046 | PORCN | c.232C>A (p.Leu78Ile) n.391C>A n.414C>A c.161C>A (p.Ala54Asp) c.97C>A (p.Leu33Ile) c.137-502C>A (n.137-502C>A) c.353C>A (p.Ala118Asp) n.271C>A c.19C>A (p.Leu7Ile) c.571C>A (p.Leu191Ile) c.484C>A (p.Leu162Ile) c.337C>A (p.Leu113Ile) c.283C>A (p.Leu95Ile) | |
| X | g.48511390C>G | CA412842048 | PORCN | c.232C>G (p.Leu78Val) n.391C>G n.414C>G c.161C>G (p.Ala54Gly) c.97C>G (p.Leu33Val) c.137-502C>G (n.137-502C>G) c.353C>G (p.Ala118Gly) n.271C>G c.19C>G (p.Leu7Val) c.571C>G (p.Leu191Val) c.484C>G (p.Leu162Val) c.337C>G (p.Leu113Val) c.283C>G (p.Leu95Val) | |
| X | g.48511390C>T | CA412842049 | PORCN | c.232C>T (p.Leu78Phe) n.391C>T n.414C>T c.161C>T (p.Ala54Val) c.97C>T (p.Leu33Phe) c.137-502C>T (n.137-502C>T) c.353C>T (p.Ala118Val) n.271C>T c.19C>T (p.Leu7Phe) c.571C>T (p.Leu191Phe) c.484C>T (p.Leu162Phe) c.337C>T (p.Leu113Phe) c.283C>T (p.Leu95Phe) | |
| X | g.48511391T>A | CA412842052 | PORCN | c.233T>A (p.Leu78His) n.392T>A n.415T>A c.162T>A (p.Ala54=) c.98T>A (p.Leu33His) c.137-501T>A (n.137-501T>A) c.354T>A (p.Ala118=) n.272T>A c.20T>A (p.Leu7His) c.572T>A (p.Leu191His) c.485T>A (p.Leu162His) c.338T>A (p.Leu113His) c.284T>A (p.Leu95His) | |
| X | g.48511391T>C | CA412842054 | PORCN | c.233T>C (p.Leu78Pro) n.392T>C n.415T>C c.162T>C (p.Ala54=) c.98T>C (p.Leu33Pro) c.137-501T>C (n.137-501T>C) c.354T>C (p.Ala118=) n.272T>C c.20T>C (p.Leu7Pro) c.572T>C (p.Leu191Pro) c.485T>C (p.Leu162Pro) c.338T>C (p.Leu113Pro) c.284T>C (p.Leu95Pro) | gnomAD v4 |
| X | g.48511391T>G | CA412842055 | PORCN | c.233T>G (p.Leu78Arg) n.392T>G n.415T>G c.162T>G (p.Ala54=) c.98T>G (p.Leu33Arg) c.137-501T>G (n.137-501T>G) c.354T>G (p.Ala118=) n.272T>G c.20T>G (p.Leu7Arg) c.572T>G (p.Leu191Arg) c.485T>G (p.Leu162Arg) c.338T>G (p.Leu113Arg) c.284T>G (p.Leu95Arg) | |
| X | g.48511392C>A | CA516010114 | PORCN | c.234C>A (p.Leu78=) n.393C>A n.416C>A c.163C>A (p.Gln55Lys) c.99C>A (p.Leu33=) c.137-500C>A (n.137-500C>A) c.355C>A (p.Gln119Lys) n.273C>A c.21C>A (p.Leu7=) c.573C>A (p.Leu191=) c.486C>A (p.Leu162=) c.339C>A (p.Leu113=) c.285C>A (p.Leu95=) | |
| X | g.48511392C>G | CA516010112 | PORCN | c.234C>G (p.Leu78=) n.393C>G n.416C>G c.163C>G (p.Gln55Glu) c.99C>G (p.Leu33=) c.137-500C>G (n.137-500C>G) c.355C>G (p.Gln119Glu) n.273C>G c.21C>G (p.Leu7=) c.573C>G (p.Leu191=) c.486C>G (p.Leu162=) c.339C>G (p.Leu113=) c.285C>G (p.Leu95=) | |
| X | g.48511392C>T | CA516010109 | PORCN | c.234C>T (p.Leu78=) n.393C>T n.416C>T c.163C>T (p.Gln55Ter) c.99C>T (p.Leu33=) c.137-500C>T (n.137-500C>T) c.355C>T (p.Gln119Ter) n.273C>T c.21C>T (p.Leu7=) c.573C>T (p.Leu191=) c.486C>T (p.Leu162=) c.339C>T (p.Leu113=) c.285C>T (p.Leu95=) | gnomAD v4 |
| X | g.48511393A>C | CA412842063 | PORCN | c.235A>C (p.Ser79Arg) n.394A>C n.417A>C c.164A>C (p.Gln55Pro) c.100A>C (p.Ser34Arg) c.137-499A>C (n.137-499A>C) c.356A>C (p.Gln119Pro) n.274A>C c.22A>C (p.Ser8Arg) c.574A>C (p.Ser192Arg) c.487A>C (p.Ser163Arg) c.340A>C (p.Ser114Arg) c.286A>C (p.Ser96Arg) | |
| X | g.48511393A>G | CA412842061 | PORCN | c.235A>G (p.Ser79Gly) n.394A>G n.417A>G c.164A>G (p.Gln55Arg) c.100A>G (p.Ser34Gly) c.137-499A>G (n.137-499A>G) c.356A>G (p.Gln119Arg) n.274A>G c.22A>G (p.Ser8Gly) c.574A>G (p.Ser192Gly) c.487A>G (p.Ser163Gly) c.340A>G (p.Ser114Gly) c.286A>G (p.Ser96Gly) | |
| X | g.48511393A>T | CA412842057 | PORCN | c.235A>T (p.Ser79Cys) n.394A>T n.417A>T c.164A>T (p.Gln55Leu) c.100A>T (p.Ser34Cys) c.137-499A>T (n.137-499A>T) c.356A>T (p.Gln119Leu) n.274A>T c.22A>T (p.Ser8Cys) c.574A>T (p.Ser192Cys) c.487A>T (p.Ser163Cys) c.340A>T (p.Ser114Cys) c.286A>T (p.Ser96Cys) | |
| X | g.48511394G>A | CA412842065 | PORCN | c.236G>A (p.Ser79Asn) n.395G>A n.418G>A c.165G>A (p.Gln55=) c.101G>A (p.Ser34Asn) c.137-498G>A (n.137-498G>A) c.357G>A (p.Gln119=) n.275G>A c.23G>A (p.Ser8Asn) c.575G>A (p.Ser192Asn) c.488G>A (p.Ser163Asn) c.341G>A (p.Ser114Asn) c.287G>A (p.Ser96Asn) | gnomAD v4 |
| X | g.48511394G>C | CA412842066 | PORCN | c.236G>C (p.Ser79Thr) n.395G>C n.418G>C c.165G>C (p.Gln55His) c.101G>C (p.Ser34Thr) c.137-498G>C (n.137-498G>C) c.357G>C (p.Gln119His) n.275G>C c.23G>C (p.Ser8Thr) c.575G>C (p.Ser192Thr) c.488G>C (p.Ser163Thr) c.341G>C (p.Ser114Thr) c.287G>C (p.Ser96Thr) | |
| X | g.48511394G>T | CA412842068 | PORCN | c.236G>T (p.Ser79Ile) n.395G>T n.418G>T c.165G>T (p.Gln55His) c.101G>T (p.Ser34Ile) c.137-498G>T (n.137-498G>T) c.357G>T (p.Gln119His) n.275G>T c.23G>T (p.Ser8Ile) c.575G>T (p.Ser192Ile) c.488G>T (p.Ser163Ile) c.341G>T (p.Ser114Ile) c.287G>T (p.Ser96Ile) |