| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.134493491G>A | CA10521411 | HPRT1 | c.403-17G>A (n.403-17G>A) n.561-17G>A n.361-17G>A c.421-17G>A (n.421-17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.134493491G= | CA2459743338 | HPRT1 | c.403-17G= (n.403-17G=) n.561-17G= n.361-17G= c.421-17G= (n.421-17G=) | |
| X | g.134493492T>C | CA2694741194 | HPRT1 | c.403-16T>C (n.403-16T>C) n.561-16T>C n.361-16T>C c.421-16T>C (n.421-16T>C) | gnomAD v4 |
| X | g.134493496_134493498del | CA2694741193 | HPRT1 | c.403-12_403-10del (n.403-12_403-10del) n.561-12_561-10del n.361-12_361-10del c.421-12_421-10del (n.421-12_421-10del) | gnomAD v4 |
| X | g.134493493C>A | CA2694741195 | HPRT1 | c.403-15C>A (n.403-15C>A) n.561-15C>A n.361-15C>A c.421-15C>A (n.421-15C>A) | gnomAD v4 |
| X | g.134493494T>C | CA2694741196 | HPRT1 | c.403-14T>C (n.403-14T>C) n.561-14T>C n.361-14T>C c.421-14T>C (n.421-14T>C) | gnomAD v4 |
| X | g.134493495T>A | CA2694741197 | HPRT1 | c.403-13T>A (n.403-13T>A) n.561-13T>A n.361-13T>A c.421-13T>A (n.421-13T>A) | gnomAD v4 |
| X | g.134493496C>A | CA10521412 | HPRT1 | c.403-12C>A (n.403-12C>A) n.561-12C>A n.361-12C>A c.421-12C>A (n.421-12C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.134493496C= | CA2459743339 | HPRT1 | c.403-12C= (n.403-12C=) n.561-12C= n.361-12C= c.421-12C= (n.421-12C=) | |
| X | g.134493496C>T | CA2579706267 | HPRT1 | c.403-12C>T (n.403-12C>T) n.561-12C>T n.361-12C>T c.421-12C>T (n.421-12C>T) | gnomAD v4 |
| X | g.134493497T>C | CA2694741198 | HPRT1 | c.403-11T>C (n.403-11T>C) n.561-11T>C n.361-11T>C c.421-11T>C (n.421-11T>C) | gnomAD v4 |
| X | g.134493502dup | CA2579706268 | HPRT1 | c.403-6dup (n.403-6dup) n.561-6dup n.361-6dup c.421-6dup (n.421-6dup) | gnomAD v4 |
| X | g.134493502del | CA2579706269 | HPRT1 | c.403-6del (n.403-6del) n.561-6del n.361-6del c.421-6del (n.421-6del) | gnomAD v4 |
| X | g.134493498T>C | CA2694741199 | HPRT1 | c.403-10T>C (n.403-10T>C) n.561-10T>C n.361-10T>C c.421-10T>C (n.421-10T>C) | gnomAD v4 |
| X | g.134493499T>C | CA2694741200 | HPRT1 | c.403-9T>C (n.403-9T>C) n.561-9T>C n.361-9T>C c.421-9T>C (n.421-9T>C) | gnomAD v4 |
| X | g.134493501T>A | CA644560399 | HPRT1 | c.403-7T>A (n.403-7T>A) n.561-7T>A n.361-7T>A c.421-7T>A (n.421-7T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.134493501T>C | CA1137521744 | HPRT1 | c.403-7T>C (n.403-7T>C) n.561-7T>C n.361-7T>C c.421-7T>C (n.421-7T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.134493501T= | CA2459743340 | HPRT1 | c.403-7T= (n.403-7T=) n.561-7T= n.361-7T= c.421-7T= (n.421-7T=) | |
| X | g.134493502T>C | CA2694741201 | HPRT1 | c.403-6T>C (n.403-6T>C) n.561-6T>C n.361-6T>C c.421-6T>C (n.421-6T>C) | gnomAD v4 |
| X | g.134493502_134493503delinsTG | CA2459743341 | HPRT1 | c.403-6_403-5delinsTG (n.403-6_403-5delinsTG) n.561-6_561-5delinsTG n.361-6_361-5delinsTG c.421-6_421-5delinsTG (n.421-6_421-5delinsTG) | |
| X | g.134493503del | CA10521413 | HPRT1 | c.403-5del (n.403-5del) n.561-5del n.361-5del c.421-5del (n.421-5del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.134493506A>C | CA414714121 | HPRT1 | c.403-2A>C (n.403-2A>C) n.561-2A>C n.361-2A>C c.421-2A>C (n.421-2A>C) | |
| X | g.134493506A>G | CA414714123 | HPRT1 | c.403-2A>G (n.403-2A>G) n.561-2A>G n.361-2A>G c.421-2A>G (n.421-2A>G) | gnomAD v4 |
| X | g.134493506A>T | CA414714137 | HPRT1 | c.403-2A>T (n.403-2A>T) n.561-2A>T n.361-2A>T c.421-2A>T (n.421-2A>T) | |
| X | g.134493507G>A | CA414714142 | HPRT1 | c.403-1G>A (n.403-1G>A) n.561-1G>A n.361-1G>A c.421-1G>A (n.421-1G>A) | |
| X | g.134493507G>C | CA414714144 | HPRT1 | c.403-1G>C (n.403-1G>C) n.561-1G>C n.361-1G>C c.421-1G>C (n.421-1G>C) | |
| X | g.134493507G>T | CA414714140 | HPRT1 | c.403-1G>T (n.403-1G>T) n.561-1G>T n.361-1G>T c.421-1G>T (n.421-1G>T) | |
| X | g.134493508G>A | CA414714146 | HPRT1 | c.403G>A (p.Asp135Asn) n.561G>A n.361G>A c.421G>A (p.Asp141Asn) | gnomAD v4 |
| X | g.134493508G>C | CA414714149 | HPRT1 | c.403G>C (p.Asp135His) n.561G>C n.361G>C c.421G>C (p.Asp141His) | |
| X | g.134493508G>T | CA414714151 | HPRT1 | c.403G>T (p.Asp135Tyr) n.561G>T n.361G>T c.421G>T (p.Asp141Tyr) | ClinVar |
| X | g.134493509_134493557del | CA2695236043 | HPRT1 | c.404_452del (p.Asp135GlyfsTer15) n.562_610del n.362_410del c.422_470del (p.Asp141GlyfsTer15) | |
| X | g.134493509A>C | CA414714154 | HPRT1 | c.404A>C (p.Asp135Ala) n.562A>C n.362A>C c.422A>C (p.Asp141Ala) | |
| X | g.134493509A>G | CA414714155 | HPRT1 | c.404A>G (p.Asp135Gly) n.562A>G n.362A>G c.422A>G (p.Asp141Gly) | |
| X | g.134493509A>T | CA414714158 | HPRT1 | c.404A>T (p.Asp135Val) n.562A>T n.362A>T c.422A>T (p.Asp141Val) | |
| X | g.134493510T>A | CA414714161 | HPRT1 | c.405T>A (p.Asp135Glu) n.563T>A n.363T>A c.423T>A (p.Asp141Glu) | |
| X | g.134493510T>C | CA518650351 | HPRT1 | c.405T>C (p.Asp135=) n.563T>C n.363T>C c.423T>C (p.Asp141=) | |
| X | g.134493510T>G | CA414714163 | HPRT1 | c.405T>G (p.Asp135Glu) n.563T>G n.363T>G c.423T>G (p.Asp141Glu) | |
| X | g.134493511del | CA2695236044 | HPRT1 | c.406del (p.Ile136Ter) n.564del n.364del c.424del (p.Ile142Ter) | |
| X | g.134493511A>C | CA414714167 | HPRT1 | c.406A>C (p.Ile136Leu) n.564A>C n.364A>C c.424A>C (p.Ile142Leu) | |
| X | g.134493511A>G | CA414714169 | HPRT1 | c.406A>G (p.Ile136Val) n.564A>G n.364A>G c.424A>G (p.Ile142Val) | gnomAD v4 |
| X | g.134493511A>T | CA414714171 | HPRT1 | c.406A>T (p.Ile136Leu) n.564A>T n.364A>T c.424A>T (p.Ile142Leu) | |
| X | g.134493511dup | CA2695236045 | HPRT1 | c.406dup (p.Ile136AsnfsTer3) n.564dup n.364dup c.424dup (p.Ile142AsnfsTer3) | |
| X | g.134493512T>A | CA414714173 | HPRT1 | c.407T>A (p.Ile136Lys) n.565T>A n.365T>A c.425T>A (p.Ile142Lys) | |
| X | g.134493512T>C | CA414714176 | HPRT1 | c.407T>C (p.Ile136Thr) n.565T>C n.365T>C c.425T>C (p.Ile142Thr) | gnomAD v4 |
| X | g.134493512T>G | CA414714177 | HPRT1 | c.407T>G (p.Ile136Arg) n.565T>G n.365T>G c.425T>G (p.Ile142Arg) | |
| X | g.134493513A>C | CA518650352 | HPRT1 | c.408A>C (p.Ile136=) n.566A>C n.366A>C c.426A>C (p.Ile142=) | |
| X | g.134493513A>G | CA414714179 | HPRT1 | c.408A>G (p.Ile136Met) n.566A>G n.366A>G c.426A>G (p.Ile142Met) | |
| X | g.134493513A>T | CA518650353 | HPRT1 | c.408A>T (p.Ile136=) n.566A>T n.366A>T c.426A>T (p.Ile142=) | |
| X | g.134493514A>C | CA414714184 | HPRT1 | c.409A>C (p.Ile137Leu) n.567A>C n.367A>C c.427A>C (p.Ile143Leu) | |
| X | g.134493514A>G | CA414714182 | HPRT1 | c.409A>G (p.Ile137Val) n.567A>G n.367A>G c.427A>G (p.Ile143Val) | |
| X | g.134493514A>T | CA414714186 | HPRT1 | c.409A>T (p.Ile137Phe) n.567A>T n.367A>T c.427A>T (p.Ile143Phe) | |
| X | g.134493515T>A | CA414714189 | HPRT1 | c.410T>A (p.Ile137Asn) n.568T>A n.368T>A c.428T>A (p.Ile143Asn) | |
| X | g.134493515T>C | CA414714193 | HPRT1 | c.410T>C (p.Ile137Thr) n.568T>C n.368T>C c.428T>C (p.Ile143Thr) | |
| X | g.134493515T>G | CA414714191 | HPRT1 | c.410T>G (p.Ile137Ser) n.568T>G n.368T>G c.428T>G (p.Ile143Ser) | |
| X | g.134493516T>A | CA518650354 | HPRT1 | c.411T>A (p.Ile137=) n.569T>A n.369T>A c.429T>A (p.Ile143=) | |
| X | g.134493516T>C | CA518650355 | HPRT1 | c.411T>C (p.Ile137=) n.569T>C n.369T>C c.429T>C (p.Ile143=) | |
| X | g.134493516T>G | CA414714196 | HPRT1 | c.411T>G (p.Ile137Met) n.569T>G n.369T>G c.429T>G (p.Ile143Met) | |
| X | g.134493517del | CA2579706270 | HPRT1 | c.412del (p.Asp138ThrfsTer28) n.570del n.370del c.430del (p.Asp144ThrfsTer28) | |
| X | g.134493517G>A | CA414714200 | HPRT1 | c.412G>A (p.Asp138Asn) n.570G>A n.370G>A c.430G>A (p.Asp144Asn) | |
| X | g.134493517G>C | CA414714198 | HPRT1 | c.412G>C (p.Asp138His) n.570G>C n.370G>C c.430G>C (p.Asp144His) | |
| X | g.134493517G>T | CA414714203 | HPRT1 | c.412G>T (p.Asp138Tyr) n.570G>T n.370G>T c.430G>T (p.Asp144Tyr) | gnomAD v4 |
| X | g.134493518A>C | CA414714206 | HPRT1 | c.413A>C (p.Asp138Ala) n.571A>C n.371A>C c.431A>C (p.Asp144Ala) | |
| X | g.134493518A>G | CA414714208 | HPRT1 | c.413A>G (p.Asp138Gly) n.571A>G n.371A>G c.431A>G (p.Asp144Gly) | |
| X | g.134493518A>T | CA414714210 | HPRT1 | c.413A>T (p.Asp138Val) n.571A>T n.371A>T c.431A>T (p.Asp144Val) | |
| X | g.134493519C>A | CA414714214 | HPRT1 | c.414C>A (p.Asp138Glu) n.572C>A n.372C>A c.432C>A (p.Asp144Glu) | gnomAD v4 |
| X | g.134493519C= | CA2459743342 | HPRT1 | c.414C= (p.Asp138=) n.572C= n.372C= c.432C= (p.Asp144=) | |
| X | g.134493519C>G | CA414714220 | HPRT1 | c.414C>G (p.Asp138Glu) n.572C>G n.372C>G c.432C>G (p.Asp144Glu) | |
| X | g.134493519C>T | CA518650356 | HPRT1 | c.414C>T (p.Asp138=) n.572C>T n.372C>T c.432C>T (p.Asp144=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.134493520A>C | CA414714224 | HPRT1 | c.415A>C (p.Thr139Pro) n.573A>C n.373A>C c.433A>C (p.Thr145Pro) | |
| X | g.134493520A>G | CA414714227 | HPRT1 | c.415A>G (p.Thr139Ala) n.573A>G n.373A>G c.433A>G (p.Thr145Ala) | |
| X | g.134493520A>T | CA414714228 | HPRT1 | c.415A>T (p.Thr139Ser) n.573A>T n.373A>T c.433A>T (p.Thr145Ser) | |
| X | g.134493521C>A | CA414714231 | HPRT1 | c.416C>A (p.Thr139Asn) n.574C>A n.374C>A c.434C>A (p.Thr145Asn) | gnomAD v4 |
| X | g.134493521C>G | CA414714233 | HPRT1 | c.416C>G (p.Thr139Ser) n.574C>G n.374C>G c.434C>G (p.Thr145Ser) | |
| X | g.134493521C>T | CA414714235 | HPRT1 | c.416C>T (p.Thr139Ile) n.574C>T n.374C>T c.434C>T (p.Thr145Ile) | |
| X | g.134493522T>A | CA518650357 | HPRT1 | c.417T>A (p.Thr139=) n.575T>A n.375T>A c.435T>A (p.Thr145=) | |
| X | g.134493522T>C | CA518650358 | HPRT1 | c.417T>C (p.Thr139=) n.575T>C n.375T>C c.435T>C (p.Thr145=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.134493522T>G | CA518650359 | HPRT1 | c.417T>G (p.Thr139=) n.575T>G n.375T>G c.435T>G (p.Thr145=) | |
| X | g.134493522T= | CA2459743343 | HPRT1 | c.417T= (p.Thr139=) n.575T= n.375T= c.435T= (p.Thr145=) | |
| X | g.134493523G>A | CA414714242 | HPRT1 | c.418G>A (p.Gly140Ser) n.576G>A n.376G>A c.436G>A (p.Gly146Ser) | |
| X | g.134493523G>C | CA414714239 | HPRT1 | c.418G>C (p.Gly140Arg) n.576G>C n.376G>C c.436G>C (p.Gly146Arg) | |
| X | g.134493523G>T | CA414714238 | HPRT1 | c.418G>T (p.Gly140Cys) n.576G>T n.376G>T c.436G>T (p.Gly146Cys) | |
| X | g.134493524del | CA2695236046 | HPRT1 | c.419del (p.Gly140AlafsTer26) n.577del n.377del c.437del (p.Gly146AlafsTer26) | |
| X | g.134493524G>A | CA120911 | HPRT1 | c.419G>A (p.Gly140Asp) n.577G>A n.377G>A c.437G>A (p.Gly146Asp) | ClinVar dbSNP |
| X | g.134493524G>C | CA414714246 | HPRT1 | c.419G>C (p.Gly140Ala) n.577G>C n.377G>C c.437G>C (p.Gly146Ala) | |
| X | g.134493524G= | CA2459743344 | HPRT1 | c.419G= (p.Gly140=) n.577G= n.377G= c.437G= (p.Gly146=) | |
| X | g.134493524G>T | CA414714248 | HPRT1 | c.419G>T (p.Gly140Val) n.577G>T n.377G>T c.437G>T (p.Gly146Val) | |
| X | g.134493525C>A | CA10521414 | HPRT1 | c.420C>A (p.Gly140=) n.578C>A n.378C>A c.438C>A (p.Gly146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.134493525C= | CA2459743345 | HPRT1 | c.420C= (p.Gly140=) n.578C= n.378C= c.438C= (p.Gly146=) | |
| X | g.134493525C>G | CA518650360 | HPRT1 | c.420C>G (p.Gly140=) n.578C>G n.378C>G c.438C>G (p.Gly146=) | |
| X | g.134493525C>T | CA518650361 | HPRT1 | c.420C>T (p.Gly140=) n.578C>T n.378C>T c.438C>T (p.Gly146=) | |
| X | g.134493526A= | CA2459743346 | HPRT1 | c.421A= (p.Lys141=) n.579A= n.379A= c.439A= (p.Lys147=) | |
| X | g.134493526A>C | CA414714252 | HPRT1 | c.421A>C (p.Lys141Gln) n.579A>C n.379A>C c.439A>C (p.Lys147Gln) | |
| X | g.134493526A>G | CA414714254 | HPRT1 | c.421A>G (p.Lys141Glu) n.579A>G n.379A>G c.439A>G (p.Lys147Glu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.134493526A>T | CA414714256 | HPRT1 | c.421A>T (p.Lys141Ter) n.579A>T n.379A>T c.439A>T (p.Lys147Ter) | |
| X | g.134493529del | CA2579706271 | HPRT1 | c.424del (p.Thr142GlnfsTer24) n.582del n.382del c.442del (p.Thr148GlnfsTer24) | |
| X | g.134493527A= | CA2459743347 | HPRT1 | c.422A= (p.Lys141=) n.580A= n.380A= c.440A= (p.Lys147=) | |
| X | g.134493527A>C | CA414714259 | HPRT1 | c.422A>C (p.Lys141Thr) n.580A>C n.380A>C c.440A>C (p.Lys147Thr) | |
| X | g.134493527A>G | CA414714261 | HPRT1 | c.422A>G (p.Lys141Arg) n.580A>G n.380A>G c.440A>G (p.Lys147Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.134493527A>T | CA414714263 | HPRT1 | c.422A>T (p.Lys141Ile) n.580A>T n.380A>T c.440A>T (p.Lys147Ile) | |
| X | g.134493528A>C | CA414714266 | HPRT1 | c.423A>C (p.Lys141Asn) n.581A>C n.381A>C c.441A>C (p.Lys147Asn) | |
| X | g.134493528A>G | CA518650362 | HPRT1 | c.423A>G (p.Lys141=) n.581A>G n.381A>G c.441A>G (p.Lys147=) | |
| X | g.134493528A>T | CA414714268 | HPRT1 | c.423A>T (p.Lys141Asn) n.581A>T n.381A>T c.441A>T (p.Lys147Asn) | |
| X | g.134493529A>C | CA414714275 | HPRT1 | c.424A>C (p.Thr142Pro) n.582A>C n.382A>C c.442A>C (p.Thr148Pro) | |
| X | g.134493529A>G | CA414714272 | HPRT1 | c.424A>G (p.Thr142Ala) n.582A>G n.382A>G c.442A>G (p.Thr148Ala) | |
| X | g.134493529A>T | CA414714271 | HPRT1 | c.424A>T (p.Thr142Ser) n.582A>T n.382A>T c.442A>T (p.Thr148Ser) | |
| X | g.134493530C>A | CA414714277 | HPRT1 | c.425C>A (p.Thr142Lys) n.583C>A n.383C>A c.443C>A (p.Thr148Lys) | gnomAD v4 |
| X | g.134493530C>G | CA414714280 | HPRT1 | c.425C>G (p.Thr142Arg) n.583C>G n.383C>G c.443C>G (p.Thr148Arg) | |
| X | g.134493530C>T | CA414714282 | HPRT1 | c.425C>T (p.Thr142Ile) n.583C>T n.383C>T c.443C>T (p.Thr148Ile) | |
| X | g.134493531A>C | CA518650363 | HPRT1 | c.426A>C (p.Thr142=) n.584A>C n.384A>C c.444A>C (p.Thr148=) | |
| X | g.134493531A>G | CA518650364 | HPRT1 | c.426A>G (p.Thr142=) n.584A>G n.384A>G c.444A>G (p.Thr148=) | |
| X | g.134493531A>T | CA518650365 | HPRT1 | c.426A>T (p.Thr142=) n.584A>T n.384A>T c.444A>T (p.Thr148=) | |
| X | g.134493532A>C | CA414714284 | HPRT1 | c.427A>C (p.Met143Leu) n.585A>C n.385A>C c.445A>C (p.Met149Leu) | |
| X | g.134493532A>G | CA414714286 | HPRT1 | c.427A>G (p.Met143Val) n.585A>G n.385A>G c.445A>G (p.Met149Val) | |
| X | g.134493532A>T | CA414714288 | HPRT1 | c.427A>T (p.Met143Leu) n.585A>T n.385A>T c.445A>T (p.Met149Leu) | |
| X | g.134493533T>A | CA255004 | HPRT1 | c.428T>A (p.Met143Lys) n.586T>A n.386T>A c.446T>A (p.Met149Lys) | ClinVar dbSNP |
| X | g.134493533T>C | CA414714292 | HPRT1 | c.428T>C (p.Met143Thr) n.586T>C n.386T>C c.446T>C (p.Met149Thr) | |
| X | g.134493533T>G | CA414714294 | HPRT1 | c.428T>G (p.Met143Arg) n.586T>G n.386T>G c.446T>G (p.Met149Arg) | |
| X | g.134493533T= | CA2459743348 | HPRT1 | c.428T= (p.Met143=) n.586T= n.386T= c.446T= (p.Met149=) | |
| X | g.134493533_134493537delinsAGCAAA | CA2695236047 | HPRT1 | c.428_432delinsAGCAAA (p.Met143LysfsTer12) n.586_590delinsAGCAAA n.386_390delinsAGCAAA c.446_450delinsAGCAAA (p.Met149LysfsTer12) | |
| X | g.134493534G>A | CA414714297 | HPRT1 | c.429G>A (p.Met143Ile) n.587G>A n.387G>A c.447G>A (p.Met149Ile) | gnomAD v4 |
| X | g.134493534G>C | CA414714299 | HPRT1 | c.429G>C (p.Met143Ile) n.587G>C n.387G>C c.447G>C (p.Met149Ile) | |
| X | g.134493534G>T | CA414714301 | HPRT1 | c.429G>T (p.Met143Ile) n.587G>T n.387G>T c.447G>T (p.Met149Ile) | |
| X | g.134493534_134493535insGCA | CA2695236048 | HPRT1 | c.429_430insGCA (p.Met143_Gln144insAla) n.587_588insGCA n.387_388insGCA c.447_448insGCA (p.Met149_Gln150insAla) | |
| X | g.134493535C>A | CA414714309 | HPRT1 | c.430C>A (p.Gln144Lys) n.588C>A n.388C>A c.448C>A (p.Gln150Lys) | gnomAD v4 |
| X | g.134493535C>G | CA414714305 | HPRT1 | c.430C>G (p.Gln144Glu) n.588C>G n.388C>G c.448C>G (p.Gln150Glu) | |
| X | g.134493535C>T | CA414714307 | HPRT1 | c.430C>T (p.Gln144Ter) n.588C>T n.388C>T c.448C>T (p.Gln150Ter) | ClinVar dbSNP |
| X | g.134493536A= | CA2459743349 | HPRT1 | c.431A= (p.Gln144=) n.589A= n.389A= c.449A= (p.Gln150=) | |
| X | g.134493536A>C | CA414714311 | HPRT1 | c.431A>C (p.Gln144Pro) n.589A>C n.389A>C c.449A>C (p.Gln150Pro) | |
| X | g.134493536A>G | CA414714313 | HPRT1 | c.431A>G (p.Gln144Arg) n.589A>G n.389A>G c.449A>G (p.Gln150Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.134493536A>T | CA414714315 | HPRT1 | c.431A>T (p.Gln144Leu) n.589A>T n.389A>T c.449A>T (p.Gln150Leu) | |
| X | g.134493537G>A | CA10521415 | HPRT1 | c.432G>A (p.Gln144=) n.590G>A n.390G>A c.450G>A (p.Gln150=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.134493537G>C | CA414714318 | HPRT1 | c.432G>C (p.Gln144His) n.590G>C n.390G>C c.450G>C (p.Gln150His) | |
| X | g.134493537G= | CA2459743350 | HPRT1 | c.432G= (p.Gln144=) n.590G= n.390G= c.450G= (p.Gln150=) | |
| X | g.134493537G>T | CA414714320 | HPRT1 | c.432G>T (p.Gln144His) n.590G>T n.390G>T c.450G>T (p.Gln150His) | |
| X | g.134493538A= | CA2459743351 | HPRT1 | c.433A= (p.Thr145=) n.591A= n.391A= c.451A= (p.Thr151=) | |
| X | g.134493538A>C | CA414714321 | HPRT1 | c.433A>C (p.Thr145Pro) n.591A>C n.391A>C c.451A>C (p.Thr151Pro) | |
| X | g.134493538A>G | CA414714323 | HPRT1 | c.433A>G (p.Thr145Ala) n.591A>G n.391A>G c.451A>G (p.Thr151Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.134493538A>T | CA414714325 | HPRT1 | c.433A>T (p.Thr145Ser) n.591A>T n.391A>T c.451A>T (p.Thr151Ser) | |
| X | g.134493539C>A | CA414714328 | HPRT1 | c.434C>A (p.Thr145Asn) n.592C>A n.392C>A c.452C>A (p.Thr151Asn) | gnomAD v4 |
| X | g.134493539C>G | CA414714330 | HPRT1 | c.434C>G (p.Thr145Ser) n.592C>G n.392C>G c.452C>G (p.Thr151Ser) | |
| X | g.134493539C>T | CA414714332 | HPRT1 | c.434C>T (p.Thr145Ile) n.592C>T n.392C>T c.452C>T (p.Thr151Ile) | |
| X | g.134493540T>A | CA518650368 | HPRT1 | c.435T>A (p.Thr145=) n.593T>A n.393T>A c.453T>A (p.Thr151=) | |
| X | g.134493540T>C | CA518650367 | HPRT1 | c.435T>C (p.Thr145=) n.593T>C n.393T>C c.453T>C (p.Thr151=) | gnomAD v4 |
| X | g.134493540T>G | CA518650366 | HPRT1 | c.435T>G (p.Thr145=) n.593T>G n.393T>G c.453T>G (p.Thr151=) | |
| X | g.134493542dup | CA2695236050 | HPRT1 | c.437dup (p.Leu146PhefsTer9) n.595dup n.395dup c.455dup (p.Leu152PhefsTer9) | |
| X | g.134493541_134493542del | CA2695236049 | HPRT1 | c.436_437del (p.Leu146AlafsTer8) n.594_595del n.394_395del c.454_455del (p.Leu152AlafsTer8) | |
| X | g.134493540_134493543dup | CA2695236051 | HPRT1 | c.435_438dup (p.Leu147PhefsTer9) n.593_596dup n.393_396dup c.453_456dup (p.Leu153PhefsTer9) | |
| X | g.134493541T>A | CA414714334 | HPRT1 | c.436T>A (p.Leu146Met) n.594T>A n.394T>A c.454T>A (p.Leu152Met) | |
| X | g.134493541T>C | CA518650369 | HPRT1 | c.436T>C (p.Leu146=) n.594T>C n.394T>C c.454T>C (p.Leu152=) | |
| X | g.134493541T>G | CA414714336 | HPRT1 | c.436T>G (p.Leu146Val) n.594T>G n.394T>G c.454T>G (p.Leu152Val) | |
| X | g.134493542T>A | CA414714339 | HPRT1 | c.437T>A (p.Leu146Ter) n.595T>A n.395T>A c.455T>A (p.Leu152Ter) | |
| X | g.134493542T>C | CA414714340 | HPRT1 | c.437T>C (p.Leu146Ser) n.595T>C n.395T>C c.455T>C (p.Leu152Ser) | |
| X | g.134493542T>G | CA414714341 | HPRT1 | c.437T>G (p.Leu146Trp) n.595T>G n.395T>G c.455T>G (p.Leu152Trp) | |
| X | g.134493543G>A | CA518650370 | HPRT1 | c.438G>A (p.Leu146=) n.596G>A n.396G>A c.456G>A (p.Leu152=) | |
| X | g.134493543G>C | CA414714344 | HPRT1 | c.438G>C (p.Leu146Phe) n.596G>C n.396G>C c.456G>C (p.Leu152Phe) | |
| X | g.134493543G>T | CA414714345 | HPRT1 | c.438G>T (p.Leu146Phe) n.596G>T n.396G>T c.456G>T (p.Leu152Phe) | |
| X | g.134493544C>A | CA414714348 | HPRT1 | c.439C>A (p.Leu147Ile) n.597C>A n.397C>A c.457C>A (p.Leu153Ile) | |
| X | g.134493544C>G | CA414714350 | HPRT1 | c.439C>G (p.Leu147Val) n.597C>G n.397C>G c.457C>G (p.Leu153Val) | |
| X | g.134493544C>T | CA414714352 | HPRT1 | c.439C>T (p.Leu147Phe) n.597C>T n.397C>T c.457C>T (p.Leu153Phe) | |
| X | g.134493545T>A | CA414714355 | HPRT1 | c.440T>A (p.Leu147His) n.598T>A n.398T>A c.458T>A (p.Leu153His) | |
| X | g.134493545T>C | CA414714358 | HPRT1 | c.440T>C (p.Leu147Pro) n.598T>C n.398T>C c.458T>C (p.Leu153Pro) | |
| X | g.134493545T>G | CA414714356 | HPRT1 | c.440T>G (p.Leu147Arg) n.598T>G n.398T>G c.458T>G (p.Leu153Arg) | |
| X | g.134493546_134493547del | CA2695236052 | HPRT1 | c.441_442del (p.Ser148LeufsTer6) n.599_600del n.399_400del c.459_460del (p.Ser154LeufsTer6) | |
| X | g.134493546T>A | CA518650371 | HPRT1 | c.441T>A (p.Leu147=) n.599T>A n.399T>A c.459T>A (p.Leu153=) | |
| X | g.134493546T>C | CA10521416 | HPRT1 | c.441T>C (p.Leu147=) n.599T>C n.399T>C c.459T>C (p.Leu153=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.134493546T>G | CA518650372 | HPRT1 | c.441T>G (p.Leu147=) n.599T>G n.399T>G c.459T>G (p.Leu153=) | |
| X | g.134493546T= | CA2459743352 | HPRT1 | c.441T= (p.Leu147=) n.599T= n.399T= c.459T= (p.Leu153=) | |
| X | g.134493547T>A | CA414714363 | HPRT1 | c.442T>A (p.Ser148Thr) n.600T>A n.400T>A c.460T>A (p.Ser154Thr) | |
| X | g.134493547T>C | CA414714365 | HPRT1 | c.442T>C (p.Ser148Pro) n.600T>C n.400T>C c.460T>C (p.Ser154Pro) | |
| X | g.134493547T>G | CA414714368 | HPRT1 | c.442T>G (p.Ser148Ala) n.600T>G n.400T>G c.460T>G (p.Ser154Ala) | |
| X | g.134493548C>A | CA414714371 | HPRT1 | c.443C>A (p.Ser148Tyr) n.601C>A n.401C>A c.461C>A (p.Ser154Tyr) | |
| X | g.134493548C>G | CA414714375 | HPRT1 | c.443C>G (p.Ser148Cys) n.601C>G n.401C>G c.461C>G (p.Ser154Cys) | |
| X | g.134493548C>T | CA414714373 | HPRT1 | c.443C>T (p.Ser148Phe) n.601C>T n.401C>T c.461C>T (p.Ser154Phe) | |
| X | g.134493549C>A | CA518650373 | HPRT1 | c.444C>A (p.Ser148=) n.602C>A n.402C>A c.462C>A (p.Ser154=) | |
| X | g.134493549C= | CA2459743353 | HPRT1 | c.444C= (p.Ser148=) n.602C= n.402C= c.462C= (p.Ser154=) | |
| X | g.134493549C>G | CA518650374 | HPRT1 | c.444C>G (p.Ser148=) n.602C>G n.402C>G c.462C>G (p.Ser154=) | |
| X | g.134493549C>T | CA10521417 | HPRT1 | c.444C>T (p.Ser148=) n.602C>T n.402C>T c.462C>T (p.Ser154=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.134493550T>A | CA414714380 | HPRT1 | c.445T>A (p.Leu149Met) n.603T>A n.403T>A c.463T>A (p.Leu155Met) | |
| X | g.134493550T>C | CA518650375 | HPRT1 | c.445T>C (p.Leu149=) n.603T>C n.403T>C c.463T>C (p.Leu155=) | |
| X | g.134493550T>G | CA414714382 | HPRT1 | c.445T>G (p.Leu149Val) n.603T>G n.403T>G c.463T>G (p.Leu155Val) | |
| X | g.134493551T>A | CA414714385 | HPRT1 | c.446T>A (p.Leu149Ter) n.604T>A n.404T>A c.464T>A (p.Leu155Ter) | |
| X | g.134493551T>C | CA414714394 | HPRT1 | c.446T>C (p.Leu149Ser) n.604T>C n.404T>C c.464T>C (p.Leu155Ser) | |
| X | g.134493551T>G | CA414714396 | HPRT1 | c.446T>G (p.Leu149Trp) n.604T>G n.404T>G c.464T>G (p.Leu155Trp) | |
| X | g.134493552G>A | CA518650376 | HPRT1 | c.447G>A (p.Leu149=) n.605G>A n.405G>A c.465G>A (p.Leu155=) | |
| X | g.134493552G>C | CA414714399 | HPRT1 | c.447G>C (p.Leu149Phe) n.605G>C n.405G>C c.465G>C (p.Leu155Phe) | |
| X | g.134493552G>T | CA414714400 | HPRT1 | c.447G>T (p.Leu149Phe) n.605G>T n.405G>T c.465G>T (p.Leu155Phe) | |
| X | g.134493553G>A | CA414714402 | HPRT1 | c.448G>A (p.Val150Ile) n.606G>A n.406G>A c.466G>A (p.Val156Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.134493553G>C | CA414714404 | HPRT1 | c.448G>C (p.Val150Leu) n.606G>C n.406G>C c.466G>C (p.Val156Leu) | |
| X | g.134493553G= | CA2459743354 | HPRT1 | c.448G= (p.Val150=) n.606G= n.406G= c.466G= (p.Val156=) | |
| X | g.134493553G>T | CA414714406 | HPRT1 | c.448G>T (p.Val150Phe) n.606G>T n.406G>T c.466G>T (p.Val156Phe) | |
| X | g.134493554T>A | CA414714409 | HPRT1 | c.449T>A (p.Val150Asp) n.607T>A n.407T>A c.467T>A (p.Val156Asp) | |
| X | g.134493554T>C | CA414714414 | HPRT1 | c.449T>C (p.Val150Ala) n.607T>C n.407T>C c.467T>C (p.Val156Ala) | |
| X | g.134493554T>G | CA414714411 | HPRT1 | c.449T>G (p.Val150Gly) n.607T>G n.407T>G c.467T>G (p.Val156Gly) | |
| X | g.134493555C>A | CA518650377 | HPRT1 | c.450C>A (p.Val150=) n.608C>A n.408C>A c.468C>A (p.Val156=) | |
| X | g.134493555C>G | CA518650378 | HPRT1 | c.450C>G (p.Val150=) n.608C>G n.408C>G c.468C>G (p.Val156=) | |
| X | g.134493555C>T | CA518650379 | HPRT1 | c.450C>T (p.Val150=) n.608C>T n.408C>T c.468C>T (p.Val156=) | |
| X | g.134493556A>C | CA518650380 | HPRT1 | c.451A>C (p.Arg151=) n.609A>C n.409A>C c.469A>C (p.Arg157=) | |
| X | g.134493556A>G | CA414714417 | HPRT1 | c.451A>G (p.Arg151Gly) n.609A>G n.409A>G c.469A>G (p.Arg157Gly) | gnomAD v4 |
| X | g.134493556A>T | CA414714419 | HPRT1 | c.451A>T (p.Arg151Trp) n.609A>T n.409A>T c.469A>T (p.Arg157Trp) | |
| X | g.134493557G>A | CA414714421 | HPRT1 | c.452G>A (p.Arg151Lys) n.610G>A n.410G>A c.470G>A (p.Arg157Lys) | |
| X | g.134493557G>C | CA414714423 | HPRT1 | c.452G>C (p.Arg151Thr) n.610G>C n.410G>C c.470G>C (p.Arg157Thr) | |
| X | g.134493557G>T | CA414714426 | HPRT1 | c.452G>T (p.Arg151Met) n.610G>T n.410G>T c.470G>T (p.Arg157Met) | |
| X | g.134493558G>A | CA518650381 | HPRT1 | c.453G>A (p.Arg151=) n.611G>A n.411G>A c.471G>A (p.Arg157=) | |
| X | g.134493558G>C | CA414714428 | HPRT1 | c.453G>C (p.Arg151Ser) n.611G>C n.411G>C c.471G>C (p.Arg157Ser) | |
| X | g.134493558G= | CA2459743355 | HPRT1 | c.453G= (p.Arg151=) n.611G= n.411G= c.471G= (p.Arg157=) | |
| X | g.134493558G>T | CA414714430 | HPRT1 | c.453G>T (p.Arg151Ser) n.611G>T n.411G>T c.471G>T (p.Arg157Ser) | ClinVar dbSNP |
| X | g.134493559C>A | CA414714433 | HPRT1 | c.454C>A (p.Gln152Lys) n.612C>A n.412C>A c.472C>A (p.Gln158Lys) | |
| X | g.134493559C= | CA2459743356 | HPRT1 | c.454C= (p.Gln152=) n.612C= n.412C= c.472C= (p.Gln158=) | |
| X | g.134493559C>G | CA414714436 | HPRT1 | c.454C>G (p.Gln152Glu) n.612C>G n.412C>G c.472C>G (p.Gln158Glu) | |
| X | g.134493559C>T | CA414714438 | HPRT1 | c.454C>T (p.Gln152Ter) n.612C>T n.412C>T c.472C>T (p.Gln158Ter) | ClinVar dbSNP |
| X | g.134493560A>C | CA414714441 | HPRT1 | c.455A>C (p.Gln152Pro) n.613A>C n.413A>C c.473A>C (p.Gln158Pro) | |
| X | g.134493560A>G | CA414714443 | HPRT1 | c.455A>G (p.Gln152Arg) n.613A>G n.413A>G c.473A>G (p.Gln158Arg) | |
| X | g.134493560A>T | CA414714446 | HPRT1 | c.455A>T (p.Gln152Leu) n.613A>T n.413A>T c.473A>T (p.Gln158Leu) | |
| X | g.134493561G>A | CA336035195 | HPRT1 | c.456G>A (p.Gln152=) n.614G>A n.414G>A c.474G>A (p.Gln158=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.134493561G>C | CA414714453 | HPRT1 | c.456G>C (p.Gln152His) n.614G>C n.414G>C c.474G>C (p.Gln158His) | gnomAD v4 |
| X | g.134493561G= | CA2459743357 | HPRT1 | c.456G= (p.Gln152=) n.614G= n.414G= c.474G= (p.Gln158=) | |
| X | g.134493561G>T | CA414714451 | HPRT1 | c.456G>T (p.Gln152His) n.614G>T n.414G>T c.474G>T (p.Gln158His) | |
| X | g.134493561delinsTT | CA2695236053 | HPRT1 | c.456delinsTT (p.Gln152HisfsTer3) n.614delinsTT n.414delinsTT c.474delinsTT (p.Gln158HisfsTer3) | |
| X | g.134493562T>A | CA414714456 | HPRT1 | c.457T>A (p.Tyr153Asn) n.615T>A n.415T>A c.475T>A (p.Tyr159Asn) | |
| X | g.134493562T>C | CA414714457 | HPRT1 | c.457T>C (p.Tyr153His) n.615T>C n.415T>C c.475T>C (p.Tyr159His) | |
| X | g.134493562T>G | CA414714459 | HPRT1 | c.457T>G (p.Tyr153Asp) n.615T>G n.415T>G c.475T>G (p.Tyr159Asp) | |
| X | g.134493563A>C | CA414714463 | HPRT1 | c.458A>C (p.Tyr153Ser) n.616A>C n.416A>C c.476A>C (p.Tyr159Ser) | |
| X | g.134493563A>G | CA414714465 | HPRT1 | c.458A>G (p.Tyr153Cys) n.616A>G n.416A>G c.476A>G (p.Tyr159Cys) | |
| X | g.134493563A>T | CA414714467 | HPRT1 | c.458A>T (p.Tyr153Phe) n.616A>T n.416A>T c.476A>T (p.Tyr159Phe) | |
| X | g.134493565_134493575del | CA2695236054 | HPRT1 | c.460_470del (p.Asn154GlyfsTer18) n.618_628del n.418_428del c.478_488del (p.Asn160GlyfsTer18) | |
| X | g.134493564del | CA2579706272 | HPRT1 | c.459del (p.Tyr153Ter) n.617del n.417del c.477del (p.Tyr159Ter) | |
| X | g.134493564T>A | CA414714470 | HPRT1 | c.459T>A (p.Tyr153Ter) n.617T>A n.417T>A c.477T>A (p.Tyr159Ter) | |
| X | g.134493564T>C | CA518650382 | HPRT1 | c.459T>C (p.Tyr153=) n.617T>C n.417T>C c.477T>C (p.Tyr159=) | |
| X | g.134493564T>G | CA120914 | HPRT1 | c.459T>G (p.Tyr153Ter) n.617T>G n.417T>G c.477T>G (p.Tyr159Ter) | ClinVar dbSNP |
| X | g.134493564T= | CA2459743358 | HPRT1 | c.459T= (p.Tyr153=) n.617T= n.417T= c.477T= (p.Tyr159=) | |
| X | g.134493565A>C | CA414714475 | HPRT1 | c.460A>C (p.Asn154His) n.618A>C n.418A>C c.478A>C (p.Asn160His) | COSMIC |
| X | g.134493565A>G | CA414714476 | HPRT1 | c.460A>G (p.Asn154Asp) n.618A>G n.418A>G c.478A>G (p.Asn160Asp) | |
| X | g.134493565A>T | CA414714479 | HPRT1 | c.460A>T (p.Asn154Tyr) n.618A>T n.418A>T c.478A>T (p.Asn160Tyr) | |
| X | g.134493566del | CA2694741202 | HPRT1 | c.461del (p.Asn154IlefsTer12) n.619del n.419del c.479del (p.Asn160IlefsTer12) | gnomAD v4 |
| X | g.134493566A>C | CA414714483 | HPRT1 | c.461A>C (p.Asn154Thr) n.619A>C n.419A>C c.479A>C (p.Asn160Thr) | |
| X | g.134493566A>G | CA414714485 | HPRT1 | c.461A>G (p.Asn154Ser) n.619A>G n.419A>G c.479A>G (p.Asn160Ser) | |
| X | g.134493566A>T | CA414714481 | HPRT1 | c.461A>T (p.Asn154Ile) n.619A>T n.419A>T c.479A>T (p.Asn160Ile) | |
| X | g.134493567T>A | CA414714488 | HPRT1 | c.462T>A (p.Asn154Lys) n.620T>A n.420T>A c.480T>A (p.Asn160Lys) | |
| X | g.134493567T>C | CA518650384 | HPRT1 | c.462T>C (p.Asn154=) n.620T>C n.420T>C c.480T>C (p.Asn160=) | gnomAD v4 |
| X | g.134493567T>G | CA414714489 | HPRT1 | c.462T>G (p.Asn154Lys) n.620T>G n.420T>G c.480T>G (p.Asn160Lys) | |
| X | g.134493568C>A | CA414714493 | HPRT1 | c.463C>A (p.Pro155Thr) n.621C>A n.421C>A c.481C>A (p.Pro161Thr) | |
| X | g.134493568C>G | CA414714494 | HPRT1 | c.463C>G (p.Pro155Ala) n.621C>G n.421C>G c.481C>G (p.Pro161Ala) | |
| X | g.134493568C>T | CA414714497 | HPRT1 | c.463C>T (p.Pro155Ser) n.621C>T n.421C>T c.481C>T (p.Pro161Ser) | |
| X | g.134493569del | CA2579706273 | HPRT1 | c.464del (p.Pro155GlnfsTer11) n.622del n.422del c.482del (p.Pro161GlnfsTer11) | |
| X | g.134493569C>A | CA414714499 | HPRT1 | c.464C>A (p.Pro155Gln) n.622C>A n.422C>A c.482C>A (p.Pro161Gln) | |
| X | g.134493569C>G | CA414714502 | HPRT1 | c.464C>G (p.Pro155Arg) n.622C>G n.422C>G c.482C>G (p.Pro161Arg) | |
| X | g.134493569C>T | CA414714504 | HPRT1 | c.464C>T (p.Pro155Leu) n.622C>T n.422C>T c.482C>T (p.Pro161Leu) | |
| X | g.134493570A>C | CA518650385 | HPRT1 | c.465A>C (p.Pro155=) n.623A>C n.423A>C c.483A>C (p.Pro161=) | |
| X | g.134493570A>G | CA518650386 | HPRT1 | c.465A>G (p.Pro155=) n.623A>G n.423A>G c.483A>G (p.Pro161=) | |
| X | g.134493570A>T | CA518650387 | HPRT1 | c.465A>T (p.Pro155=) n.623A>T n.423A>T c.483A>T (p.Pro161=) | |
| X | g.134493571A>C | CA414714507 | HPRT1 | c.466A>C (p.Lys156Gln) n.624A>C n.424A>C c.484A>C (p.Lys162Gln) | |
| X | g.134493571A>G | CA414714508 | HPRT1 | c.466A>G (p.Lys156Glu) n.624A>G n.424A>G c.484A>G (p.Lys162Glu) | |
| X | g.134493571A>T | CA414714511 | HPRT1 | c.466A>T (p.Lys156Ter) n.624A>T n.424A>T c.484A>T (p.Lys162Ter) | |
| X | g.134493572A>C | CA414714513 | HPRT1 | c.467A>C (p.Lys156Thr) n.625A>C n.425A>C c.485A>C (p.Lys162Thr) | |
| X | g.134493572A>G | CA414714516 | HPRT1 | c.467A>G (p.Lys156Arg) n.625A>G n.425A>G c.485A>G (p.Lys162Arg) | |
| X | g.134493572A>T | CA414714518 | HPRT1 | c.467A>T (p.Lys156Met) n.625A>T n.425A>T c.485A>T (p.Lys162Met) | |
| X | g.134493573G>A | CA518650388 | HPRT1 | c.468G>A (p.Lys156=) n.626G>A n.426G>A c.486G>A (p.Lys162=) | |
| X | g.134493573G>C | CA414714523 | HPRT1 | c.468G>C (p.Lys156Asn) n.626G>C n.426G>C c.486G>C (p.Lys162Asn) | |
| X | g.134493573G>T | CA414714521 | HPRT1 | c.468G>T (p.Lys156Asn) n.626G>T n.426G>T c.486G>T (p.Lys162Asn) | |
| X | g.134493574_134493576del | CA2695236055 | HPRT1 | c.469_471del (p.Met157del) n.627_629del n.427_429del c.487_489del (p.Met163del) | |
| X | g.134493574A>C | CA414714526 | HPRT1 | c.469A>C (p.Met157Leu) n.627A>C n.427A>C c.487A>C (p.Met163Leu) | |
| X | g.134493574A>G | CA414714528 | HPRT1 | c.469A>G (p.Met157Val) n.627A>G n.427A>G c.487A>G (p.Met163Val) | |
| X | g.134493574A>T | CA414714530 | HPRT1 | c.469A>T (p.Met157Leu) n.627A>T n.427A>T c.487A>T (p.Met163Leu) | |
| X | g.134493575T>A | CA414714533 | HPRT1 | c.470T>A (p.Met157Lys) n.628T>A n.428T>A c.488T>A (p.Met163Lys) | |
| X | g.134493575T>C | CA414714535 | HPRT1 | c.470T>C (p.Met157Thr) n.628T>C n.428T>C c.488T>C (p.Met163Thr) | dbSNP |
| X | g.134493575T>G | CA414714537 | HPRT1 | c.470T>G (p.Met157Arg) n.628T>G n.428T>G c.488T>G (p.Met163Arg) | |
| X | g.134493575T= | CA2459743359 | HPRT1 | c.470T= (p.Met157=) n.628T= n.428T= c.488T= (p.Met163=) | |
| X | g.134493576G>A | CA414714543 | HPRT1 | c.471G>A (p.Met157Ile) n.629G>A n.429G>A c.489G>A (p.Met163Ile) | |
| X | g.134493576G>C | CA414714541 | HPRT1 | c.471G>C (p.Met157Ile) n.629G>C n.429G>C c.489G>C (p.Met163Ile) | |
| X | g.134493576G>T | CA414714539 | HPRT1 | c.471G>T (p.Met157Ile) n.629G>T n.429G>T c.489G>T (p.Met163Ile) | |
| X | g.134493577dup | CA2573159282 | HPRT1 | c.472dup (p.Val158GlyfsTer18) n.630dup n.430dup c.490dup (p.Val164GlyfsTer18) | ClinVar dbSNP |
| X | g.134493580_134493585dup | CA2695236056 | HPRT1 | c.475_480dup (p.Val160_Ala161insLysVal) n.633_638dup n.433_438dup c.493_498dup (p.Val166_Ala167insLysVal) | |
| X | g.134493577G>A | CA414714546 | HPRT1 | c.472G>A (p.Val158Ile) n.630G>A n.430G>A c.490G>A (p.Val164Ile) | dbSNP |
| X | g.134493577G>C | CA414714548 | HPRT1 | c.472G>C (p.Val158Leu) n.630G>C n.430G>C c.490G>C (p.Val164Leu) | |
| X | g.134493577G= | CA2459743360 | HPRT1 | c.472G= (p.Val158=) n.630G= n.430G= c.490G= (p.Val164=) | |
| X | g.134493577G>T | CA414714550 | HPRT1 | c.472G>T (p.Val158Phe) n.630G>T n.430G>T c.490G>T (p.Val164Phe) | |
| X | g.134493578T>A | CA414714553 | HPRT1 | c.473T>A (p.Val158Asp) n.631T>A n.431T>A c.491T>A (p.Val164Asp) | |
| X | g.134493578T>C | CA414714555 | HPRT1 | c.473T>C (p.Val158Ala) n.631T>C n.431T>C c.491T>C (p.Val164Ala) | gnomAD v4 |
| X | g.134493578T>G | CA414714561 | HPRT1 | c.473T>G (p.Val158Gly) n.631T>G n.431T>G c.491T>G (p.Val164Gly) | |
| X | g.134493579del | CA2579706274 | HPRT1 | c.474del (p.Lys159ArgfsTer7) n.632del n.432del c.492del (p.Lys165ArgfsTer7) | |
| X | g.134493579C>A | CA518650391 | HPRT1 | c.474C>A (p.Val158=) n.632C>A n.432C>A c.492C>A (p.Val164=) | |
| X | g.134493579C>G | CA518650390 | HPRT1 | c.474C>G (p.Val158=) n.632C>G n.432C>G c.492C>G (p.Val164=) | |
| X | g.134493579C>T | CA518650389 | HPRT1 | c.474C>T (p.Val158=) n.632C>T n.432C>T c.492C>T (p.Val164=) | |
| X | g.134493580A>C | CA414714563 | HPRT1 | c.475A>C (p.Lys159Gln) n.633A>C n.433A>C c.493A>C (p.Lys165Gln) | |
| X | g.134493580A>G | CA414714566 | HPRT1 | c.475A>G (p.Lys159Glu) n.633A>G n.433A>G c.493A>G (p.Lys165Glu) | gnomAD v4 |
| X | g.134493580A>T | CA414714565 | HPRT1 | c.475A>T (p.Lys159Ter) n.633A>T n.433A>T c.493A>T (p.Lys165Ter) | |
| X | g.134493581A>C | CA414714569 | HPRT1 | c.476A>C (p.Lys159Thr) n.634A>C n.434A>C c.494A>C (p.Lys165Thr) | |
| X | g.134493581A>G | CA414714571 | HPRT1 | c.476A>G (p.Lys159Arg) n.634A>G n.434A>G c.494A>G (p.Lys165Arg) | |
| X | g.134493581A>T | CA414714573 | HPRT1 | c.476A>T (p.Lys159Met) n.634A>T n.434A>T c.494A>T (p.Lys165Met) | |
| X | g.134493582G>A | CA518650392 | HPRT1 | c.477G>A (p.Lys159=) n.635G>A n.435G>A c.495G>A (p.Lys165=) | |
| X | g.134493582G>C | CA414714576 | HPRT1 | c.477G>C (p.Lys159Asn) n.635G>C n.435G>C c.495G>C (p.Lys165Asn) | |
| X | g.134493582G>T | CA414714579 | HPRT1 | c.477G>T (p.Lys159Asn) n.635G>T n.435G>T c.495G>T (p.Lys165Asn) | gnomAD v4 |
| X | g.134493583del | CA2695236057 | HPRT1 | c.478del (p.Val160SerfsTer6) n.636del n.436del c.496del (p.Val166SerfsTer6) | |
| X | g.134493583G>A | CA414714580 | HPRT1 | c.478G>A (p.Val160Ile) n.636G>A n.436G>A c.496G>A (p.Val166Ile) | gnomAD v4 |
| X | g.134493583G>C | CA414714581 | HPRT1 | c.478G>C (p.Val160Leu) n.636G>C n.436G>C c.496G>C (p.Val166Leu) | |
| X | g.134493583G>T | CA414714582 | HPRT1 | c.478G>T (p.Val160Phe) n.636G>T n.436G>T c.496G>T (p.Val166Phe) | |
| X | g.134493584_134493586del | CA2695236058 | HPRT1 | c.479_481del (p.Val160del) n.637_639del n.437_439del c.497_499del (p.Val166del) | |
| X | g.134493584T>A | CA414714583 | HPRT1 | c.479T>A (p.Val160Asp) n.637T>A n.437T>A c.497T>A (p.Val166Asp) | gnomAD v4 |
| X | g.134493584T>C | CA414714584 | HPRT1 | c.479T>C (p.Val160Ala) n.637T>C n.437T>C c.497T>C (p.Val166Ala) | |
| X | g.134493584T>G | CA414714585 | HPRT1 | c.479T>G (p.Val160Gly) n.637T>G n.437T>G c.497T>G (p.Val166Gly) | |
| X | g.134493585C>A | CA518650393 | HPRT1 | c.480C>A (p.Val160=) n.638C>A n.438C>A c.498C>A (p.Val166=) | gnomAD v4 |
| X | g.134493585C= | CA2459743361 | HPRT1 | c.480C= (p.Val160=) n.638C= n.438C= c.498C= (p.Val166=) | |
| X | g.134493585C>G | CA518650394 | HPRT1 | c.480C>G (p.Val160=) n.638C>G n.438C>G c.498C>G (p.Val166=) | |
| X | g.134493585C>T | CA203208 | HPRT1 | c.480C>T (p.Val160=) n.638C>T n.438C>T c.498C>T (p.Val166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.134493586G>A | CA414714591 | HPRT1 | c.481G>A (p.Ala161Thr) n.639G>A n.439G>A c.499G>A (p.Ala167Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.134493586G>C | CA414714593 | HPRT1 | c.481G>C (p.Ala161Pro) n.639G>C n.439G>C c.499G>C (p.Ala167Pro) | |
| X | g.134493586G= | CA2459743362 | HPRT1 | c.481G= (p.Ala161=) n.639G= n.439G= c.499G= (p.Ala167=) | |
| X | g.134493586G>T | CA120896 | HPRT1 | c.481G>T (p.Ala161Ser) n.639G>T n.439G>T c.499G>T (p.Ala167Ser) | ClinVar dbSNP COSMIC |
| X | g.134493587C>A | CA414714595 | HPRT1 | c.482C>A (p.Ala161Glu) n.640C>A n.440C>A c.500C>A (p.Ala167Glu) | gnomAD v4 |
| X | g.134493587C>G | CA414714597 | HPRT1 | c.482C>G (p.Ala161Gly) n.640C>G n.440C>G c.500C>G (p.Ala167Gly) | |
| X | g.134493587C>T | CA414714599 | HPRT1 | c.482C>T (p.Ala161Val) n.640C>T n.440C>T c.500C>T (p.Ala167Val) | |
| X | g.134493588A= | CA2459743363 | HPRT1 | c.483A= (p.Ala161=) n.641A= n.441A= c.501A= (p.Ala167=) | |
| X | g.134493588A>C | CA518650395 | HPRT1 | c.483A>C (p.Ala161=) n.641A>C n.441A>C c.501A>C (p.Ala167=) | |
| X | g.134493588A>G | CA336035196 | HPRT1 | c.483A>G (p.Ala161=) n.641A>G n.441A>G c.501A>G (p.Ala167=) | dbSNP gnomAD v4 |
| X | g.134493588A>T | CA518650396 | HPRT1 | c.483A>T (p.Ala161=) n.641A>T n.441A>T c.501A>T (p.Ala167=) | |
| X | g.134493589A>C | CA414714608 | HPRT1 | c.484A>C (p.Ser162Arg) n.642A>C n.442A>C c.502A>C (p.Ser168Arg) | |
| X | g.134493589A>G | CA414714606 | HPRT1 | c.484A>G (p.Ser162Gly) n.642A>G n.442A>G c.502A>G (p.Ser168Gly) | gnomAD v4 |
| X | g.134493589A>T | CA414714604 | HPRT1 | c.484A>T (p.Ser162Cys) n.642A>T n.442A>T c.502A>T (p.Ser168Cys) | |
| X | g.134493590G>A | CA414714610 | HPRT1 | c.485G>A (p.Ser162Asn) n.643G>A n.443G>A c.503G>A (p.Ser168Asn) | |
| X | g.134493590G>C | CA414714613 | HPRT1 | c.485G>C (p.Ser162Thr) n.643G>C n.443G>C c.503G>C (p.Ser168Thr) | |
| X | g.134493590G= | CA2459743364 | HPRT1 | c.485G= (p.Ser162=) n.643G= n.443G= c.503G= (p.Ser168=) | |
| X | g.134493590G>T | CA10604268 | HPRT1 | c.485G>T (p.Ser162Ile) n.643G>T n.443G>T c.503G>T (p.Ser168Ile) | ClinVar dbSNP |
| X | g.134493590_134493591insCTTGCTG | CA2738988762 | HPRT1 | c.485_485+1insCTTGCTG (p.Val165LeufsTer13) n.643_643+1insCTTGCTG n.443_443+1insCTTGCTG c.503_503+1insCTTGCTG (p.Val171LeufsTer13) | dbSNP |
| X | g.134493591G>A | CA414714619 | HPRT1 | c.485+1G>A (n.485+1G>A) n.643+1G>A n.443+1G>A c.503+1G>A (n.503+1G>A) | ClinVar dbSNP gnomAD v4 |
| X | g.134493591G>C | CA414714621 | HPRT1 | c.485+1G>C (n.485+1G>C) n.643+1G>C n.443+1G>C c.503+1G>C (n.503+1G>C) | |
| X | g.134493591G= | CA2459743365 | HPRT1 | c.485+1G= (n.485+1G=) n.643+1G= n.443+1G= c.503+1G= (n.503+1G=) | |
| X | g.134493591G>T | CA414714623 | HPRT1 | c.485+1G>T (n.485+1G>T) n.643+1G>T n.443+1G>T c.503+1G>T (n.503+1G>T) |