WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.114402834G>A | CA185852 | WHRN | c.988C>T (p.Arg330Cys) c.2644C>T (p.Arg882Cys) c.1617C>T n.2525C>T c.1495C>T (p.Arg499Cys) c.1591C>T (p.Arg531Cys) c.2641C>T (p.Arg881Cys) c.1981C>T (p.Arg661Cys) c.2677C>T (p.Arg893Cys) c.2674C>T (p.Arg892Cys) c.2551C>T (p.Arg851Cys) c.2434C>T (p.Arg812Cys) c.1354C>T (p.Arg452Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114402834G>C | CA374618893 | WHRN | c.988C>G (p.Arg330Gly) c.2644C>G (p.Arg882Gly) c.1617C>G n.2525C>G c.1495C>G (p.Arg499Gly) c.1591C>G (p.Arg531Gly) c.2641C>G (p.Arg881Gly) c.1981C>G (p.Arg661Gly) c.2677C>G (p.Arg893Gly) c.2674C>G (p.Arg892Gly) c.2551C>G (p.Arg851Gly) c.2434C>G (p.Arg812Gly) c.1354C>G (p.Arg452Gly) | dbSNP |
| 9 | g.114402834G= | CA1873825352 | WHRN | c.988C= (p.Arg330=) c.2644C= (p.Arg882=) c.1617C= n.2525C= c.1495C= (p.Arg499=) c.1591C= (p.Arg531=) c.2641C= (p.Arg881=) c.1981C= (p.Arg661=) c.2677C= (p.Arg893=) c.2674C= (p.Arg892=) c.2551C= (p.Arg851=) c.2434C= (p.Arg812=) c.1354C= (p.Arg452=) | |
| 9 | g.114402834G>T | CA239906 | WHRN | c.988C>A (p.Arg330Ser) c.2644C>A (p.Arg882Ser) c.1617C>A n.2525C>A c.1495C>A (p.Arg499Ser) c.1591C>A (p.Arg531Ser) c.2641C>A (p.Arg881Ser) c.1981C>A (p.Arg661Ser) c.2677C>A (p.Arg893Ser) c.2674C>A (p.Arg892Ser) c.2551C>A (p.Arg851Ser) c.2434C>A (p.Arg812Ser) c.1354C>A (p.Arg452Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114402835G>A | CA466910828 | WHRN | c.987C>T (p.Ala329=) c.2643C>T (p.Ala881=) c.1616C>T n.2524C>T c.1494C>T (p.Ala498=) c.1590C>T (p.Ala530=) c.2640C>T (p.Ala880=) c.1980C>T (p.Ala660=) c.2676C>T (p.Ala892=) c.2673C>T (p.Ala891=) c.2550C>T (p.Ala850=) c.2433C>T (p.Ala811=) c.1353C>T (p.Ala451=) | |
| 9 | g.114402835G>C | CA466910829 | WHRN | c.987C>G (p.Ala329=) c.2643C>G (p.Ala881=) c.1616C>G n.2524C>G c.1494C>G (p.Ala498=) c.1590C>G (p.Ala530=) c.2640C>G (p.Ala880=) c.1980C>G (p.Ala660=) c.2676C>G (p.Ala892=) c.2673C>G (p.Ala891=) c.2550C>G (p.Ala850=) c.2433C>G (p.Ala811=) c.1353C>G (p.Ala451=) | |
| 9 | g.114402835G>T | CA466910830 | WHRN | c.987C>A (p.Ala329=) c.2643C>A (p.Ala881=) c.1616C>A n.2524C>A c.1494C>A (p.Ala498=) c.1590C>A (p.Ala530=) c.2640C>A (p.Ala880=) c.1980C>A (p.Ala660=) c.2676C>A (p.Ala892=) c.2673C>A (p.Ala891=) c.2550C>A (p.Ala850=) c.2433C>A (p.Ala811=) c.1353C>A (p.Ala451=) | |
| 9 | g.114402836G>A | CA374618894 | WHRN | c.986C>T (p.Ala329Val) c.2642C>T (p.Ala881Val) c.1615C>T n.2523C>T c.1493C>T (p.Ala498Val) c.1589C>T (p.Ala530Val) c.2639C>T (p.Ala880Val) c.1979C>T (p.Ala660Val) c.2675C>T (p.Ala892Val) c.2672C>T (p.Ala891Val) c.2549C>T (p.Ala850Val) c.2432C>T (p.Ala811Val) c.1352C>T (p.Ala451Val) | gnomAD v4 |
| 9 | g.114402836G>C | CA374618895 | WHRN | c.986C>G (p.Ala329Gly) c.2642C>G (p.Ala881Gly) c.1615C>G n.2523C>G c.1493C>G (p.Ala498Gly) c.1589C>G (p.Ala530Gly) c.2639C>G (p.Ala880Gly) c.1979C>G (p.Ala660Gly) c.2675C>G (p.Ala892Gly) c.2672C>G (p.Ala891Gly) c.2549C>G (p.Ala850Gly) c.2432C>G (p.Ala811Gly) c.1352C>G (p.Ala451Gly) | gnomAD v4 |
| 9 | g.114402836G>T | CA374618896 | WHRN | c.986C>A (p.Ala329Asp) c.2642C>A (p.Ala881Asp) c.1615C>A n.2523C>A c.1493C>A (p.Ala498Asp) c.1589C>A (p.Ala530Asp) c.2639C>A (p.Ala880Asp) c.1979C>A (p.Ala660Asp) c.2675C>A (p.Ala892Asp) c.2672C>A (p.Ala891Asp) c.2549C>A (p.Ala850Asp) c.2432C>A (p.Ala811Asp) c.1352C>A (p.Ala451Asp) | |
| 9 | g.114402837C>A | CA374618897 | WHRN | c.985G>T (p.Ala329Ser) c.2641G>T (p.Ala881Ser) c.1614G>T n.2522G>T c.1492G>T (p.Ala498Ser) c.1588G>T (p.Ala530Ser) c.2638G>T (p.Ala880Ser) c.1978G>T (p.Ala660Ser) c.2674G>T (p.Ala892Ser) c.2671G>T (p.Ala891Ser) c.2548G>T (p.Ala850Ser) c.2431G>T (p.Ala811Ser) c.1351G>T (p.Ala451Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.114402837C= | CA1873825353 | WHRN | c.985G= (p.Ala329=) c.2641G= (p.Ala881=) c.1614G= n.2522G= c.1492G= (p.Ala498=) c.1588G= (p.Ala530=) c.2638G= (p.Ala880=) c.1978G= (p.Ala660=) c.2674G= (p.Ala892=) c.2671G= (p.Ala891=) c.2548G= (p.Ala850=) c.2431G= (p.Ala811=) c.1351G= (p.Ala451=) | |
| 9 | g.114402837C>G | CA374618898 | WHRN | c.985G>C (p.Ala329Pro) c.2641G>C (p.Ala881Pro) c.1614G>C n.2522G>C c.1492G>C (p.Ala498Pro) c.1588G>C (p.Ala530Pro) c.2638G>C (p.Ala880Pro) c.1978G>C (p.Ala660Pro) c.2674G>C (p.Ala892Pro) c.2671G>C (p.Ala891Pro) c.2548G>C (p.Ala850Pro) c.2431G>C (p.Ala811Pro) c.1351G>C (p.Ala451Pro) | |
| 9 | g.114402837C>T | CA5205563 | WHRN | c.985G>A (p.Ala329Thr) c.2641G>A (p.Ala881Thr) c.1614G>A n.2522G>A c.1492G>A (p.Ala498Thr) c.1588G>A (p.Ala530Thr) c.2638G>A (p.Ala880Thr) c.1978G>A (p.Ala660Thr) c.2674G>A (p.Ala892Thr) c.2671G>A (p.Ala891Thr) c.2548G>A (p.Ala850Thr) c.2431G>A (p.Ala811Thr) c.1351G>A (p.Ala451Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.114402838G>A | CA466910832 | WHRN | c.984C>T (p.Ala328=) c.2640C>T (p.Ala880=) c.1613C>T n.2521C>T c.1491C>T (p.Ala497=) c.1587C>T (p.Ala529=) c.2637C>T (p.Ala879=) c.1977C>T (p.Ala659=) c.2673C>T (p.Ala891=) c.2670C>T (p.Ala890=) c.2547C>T (p.Ala849=) c.2430C>T (p.Ala810=) c.1350C>T (p.Ala450=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114402838G>C | CA466910834 | WHRN | c.984C>G (p.Ala328=) c.2640C>G (p.Ala880=) c.1613C>G n.2521C>G c.1491C>G (p.Ala497=) c.1587C>G (p.Ala529=) c.2637C>G (p.Ala879=) c.1977C>G (p.Ala659=) c.2673C>G (p.Ala891=) c.2670C>G (p.Ala890=) c.2547C>G (p.Ala849=) c.2430C>G (p.Ala810=) c.1350C>G (p.Ala450=) | |
| 9 | g.114402838G= | CA1873825354 | WHRN | c.984C= (p.Ala328=) c.2640C= (p.Ala880=) c.1613C= n.2521C= c.1491C= (p.Ala497=) c.1587C= (p.Ala529=) c.2637C= (p.Ala879=) c.1977C= (p.Ala659=) c.2673C= (p.Ala891=) c.2670C= (p.Ala890=) c.2547C= (p.Ala849=) c.2430C= (p.Ala810=) c.1350C= (p.Ala450=) | |
| 9 | g.114402838G>T | CA466910835 | WHRN | c.984C>A (p.Ala328=) c.2640C>A (p.Ala880=) c.1613C>A n.2521C>A c.1491C>A (p.Ala497=) c.1587C>A (p.Ala529=) c.2637C>A (p.Ala879=) c.1977C>A (p.Ala659=) c.2673C>A (p.Ala891=) c.2670C>A (p.Ala890=) c.2547C>A (p.Ala849=) c.2430C>A (p.Ala810=) c.1350C>A (p.Ala450=) | |
| 9 | g.114402839G>A | CA374618899 | WHRN | c.983C>T (p.Ala328Val) c.2639C>T (p.Ala880Val) c.1612C>T n.2520C>T c.1490C>T (p.Ala497Val) c.1586C>T (p.Ala529Val) c.2636C>T (p.Ala879Val) c.1976C>T (p.Ala659Val) c.2672C>T (p.Ala891Val) c.2669C>T (p.Ala890Val) c.2546C>T (p.Ala849Val) c.2429C>T (p.Ala810Val) c.1349C>T (p.Ala450Val) | |
| 9 | g.114402839G>C | CA374618900 | WHRN | c.983C>G (p.Ala328Gly) c.2639C>G (p.Ala880Gly) c.1612C>G n.2520C>G c.1490C>G (p.Ala497Gly) c.1586C>G (p.Ala529Gly) c.2636C>G (p.Ala879Gly) c.1976C>G (p.Ala659Gly) c.2672C>G (p.Ala891Gly) c.2669C>G (p.Ala890Gly) c.2546C>G (p.Ala849Gly) c.2429C>G (p.Ala810Gly) c.1349C>G (p.Ala450Gly) | |
| 9 | g.114402839G>T | CA374618901 | WHRN | c.983C>A (p.Ala328Asp) c.2639C>A (p.Ala880Asp) c.1612C>A n.2520C>A c.1490C>A (p.Ala497Asp) c.1586C>A (p.Ala529Asp) c.2636C>A (p.Ala879Asp) c.1976C>A (p.Ala659Asp) c.2672C>A (p.Ala891Asp) c.2669C>A (p.Ala890Asp) c.2546C>A (p.Ala849Asp) c.2429C>A (p.Ala810Asp) c.1349C>A (p.Ala450Asp) | |
| 9 | g.114402840C>A | CA374618904 | WHRN | c.982G>T (p.Ala328Ser) c.2638G>T (p.Ala880Ser) c.1611G>T n.2519G>T c.1489G>T (p.Ala497Ser) c.1585G>T (p.Ala529Ser) c.2635G>T (p.Ala879Ser) c.1975G>T (p.Ala659Ser) c.2671G>T (p.Ala891Ser) c.2668G>T (p.Ala890Ser) c.2545G>T (p.Ala849Ser) c.2428G>T (p.Ala810Ser) c.1348G>T (p.Ala450Ser) | gnomAD v4 |
| 9 | g.114402840C>G | CA374618903 | WHRN | c.982G>C (p.Ala328Pro) c.2638G>C (p.Ala880Pro) c.1611G>C n.2519G>C c.1489G>C (p.Ala497Pro) c.1585G>C (p.Ala529Pro) c.2635G>C (p.Ala879Pro) c.1975G>C (p.Ala659Pro) c.2671G>C (p.Ala891Pro) c.2668G>C (p.Ala890Pro) c.2545G>C (p.Ala849Pro) c.2428G>C (p.Ala810Pro) c.1348G>C (p.Ala450Pro) | |
| 9 | g.114402840C>T | CA374618902 | WHRN | c.982G>A (p.Ala328Thr) c.2638G>A (p.Ala880Thr) c.1611G>A n.2519G>A c.1489G>A (p.Ala497Thr) c.1585G>A (p.Ala529Thr) c.2635G>A (p.Ala879Thr) c.1975G>A (p.Ala659Thr) c.2671G>A (p.Ala891Thr) c.2668G>A (p.Ala890Thr) c.2545G>A (p.Ala849Thr) c.2428G>A (p.Ala810Thr) c.1348G>A (p.Ala450Thr) | |
| 9 | g.114402841C>A | CA374618905 | WHRN | c.981G>T (p.Glu327Asp) c.2637G>T (p.Glu879Asp) c.1610G>T n.2518G>T c.1488G>T (p.Glu496Asp) c.1584G>T (p.Glu528Asp) c.2634G>T (p.Glu878Asp) c.1974G>T (p.Glu658Asp) c.2670G>T (p.Glu890Asp) c.2667G>T (p.Glu889Asp) c.2544G>T (p.Glu848Asp) c.2427G>T (p.Glu809Asp) c.1347G>T (p.Glu449Asp) | |
| 9 | g.114402841C= | CA1873825355 | WHRN | c.981G= (p.Glu327=) c.2637G= (p.Glu879=) c.1610G= n.2518G= c.1488G= (p.Glu496=) c.1584G= (p.Glu528=) c.2634G= (p.Glu878=) c.1974G= (p.Glu658=) c.2670G= (p.Glu890=) c.2667G= (p.Glu889=) c.2544G= (p.Glu848=) c.2427G= (p.Glu809=) c.1347G= (p.Glu449=) | |
| 9 | g.114402841C>G | CA374618906 | WHRN | c.981G>C (p.Glu327Asp) c.2637G>C (p.Glu879Asp) c.1610G>C n.2518G>C c.1488G>C (p.Glu496Asp) c.1584G>C (p.Glu528Asp) c.2634G>C (p.Glu878Asp) c.1974G>C (p.Glu658Asp) c.2670G>C (p.Glu890Asp) c.2667G>C (p.Glu889Asp) c.2544G>C (p.Glu848Asp) c.2427G>C (p.Glu809Asp) c.1347G>C (p.Glu449Asp) | |
| 9 | g.114402841C>T | CA5205564 | WHRN | c.981G>A (p.Glu327=) c.2637G>A (p.Glu879=) c.1610G>A n.2518G>A c.1488G>A (p.Glu496=) c.1584G>A (p.Glu528=) c.2634G>A (p.Glu878=) c.1974G>A (p.Glu658=) c.2670G>A (p.Glu890=) c.2667G>A (p.Glu889=) c.2544G>A (p.Glu848=) c.2427G>A (p.Glu809=) c.1347G>A (p.Glu449=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.114402842T>A | CA374618907 | WHRN | c.980A>T (p.Glu327Val) c.2636A>T (p.Glu879Val) c.1609A>T n.2517A>T c.1487A>T (p.Glu496Val) c.1583A>T (p.Glu528Val) c.2633A>T (p.Glu878Val) c.1973A>T (p.Glu658Val) c.2669A>T (p.Glu890Val) c.2666A>T (p.Glu889Val) c.2543A>T (p.Glu848Val) c.2426A>T (p.Glu809Val) c.1346A>T (p.Glu449Val) | |
| 9 | g.114402842T>C | CA374618909 | WHRN | c.980A>G (p.Glu327Gly) c.2636A>G (p.Glu879Gly) c.1609A>G n.2517A>G c.1487A>G (p.Glu496Gly) c.1583A>G (p.Glu528Gly) c.2633A>G (p.Glu878Gly) c.1973A>G (p.Glu658Gly) c.2669A>G (p.Glu890Gly) c.2666A>G (p.Glu889Gly) c.2543A>G (p.Glu848Gly) c.2426A>G (p.Glu809Gly) c.1346A>G (p.Glu449Gly) | |
| 9 | g.114402842T>G | CA374618908 | WHRN | c.980A>C (p.Glu327Ala) c.2636A>C (p.Glu879Ala) c.1609A>C n.2517A>C c.1487A>C (p.Glu496Ala) c.1583A>C (p.Glu528Ala) c.2633A>C (p.Glu878Ala) c.1973A>C (p.Glu658Ala) c.2669A>C (p.Glu890Ala) c.2666A>C (p.Glu889Ala) c.2543A>C (p.Glu848Ala) c.2426A>C (p.Glu809Ala) c.1346A>C (p.Glu449Ala) | |
| 9 | g.114402842_114402843delinsTC | CA1873825356 | WHRN | c.979_980delinsGA (p.Glu327=) c.2635_2636delinsGA (p.Glu879=) c.1608_1609delinsGA n.2516_2517delinsGA c.1486_1487delinsGA (p.Glu496=) c.1582_1583delinsGA (p.Glu528=) c.2632_2633delinsGA (p.Glu878=) c.1972_1973delinsGA (p.Glu658=) c.2668_2669delinsGA (p.Glu890=) c.2665_2666delinsGA (p.Glu889=) c.2542_2543delinsGA (p.Glu848=) c.2425_2426delinsGA (p.Glu809=) c.1345_1346delinsGA (p.Glu449=) | |
| 9 | g.114402843C>A | CA374618910 | WHRN | c.979G>T (p.Glu327Ter) c.2635G>T (p.Glu879Ter) c.1608G>T n.2516G>T c.1486G>T (p.Glu496Ter) c.1582G>T (p.Glu528Ter) c.2632G>T (p.Glu878Ter) c.1972G>T (p.Glu658Ter) c.2668G>T (p.Glu890Ter) c.2665G>T (p.Glu889Ter) c.2542G>T (p.Glu848Ter) c.2425G>T (p.Glu809Ter) c.1345G>T (p.Glu449Ter) | |
| 9 | g.114402843C>G | CA374618911 | WHRN | c.979G>C (p.Glu327Gln) c.2635G>C (p.Glu879Gln) c.1608G>C n.2516G>C c.1486G>C (p.Glu496Gln) c.1582G>C (p.Glu528Gln) c.2632G>C (p.Glu878Gln) c.1972G>C (p.Glu658Gln) c.2668G>C (p.Glu890Gln) c.2665G>C (p.Glu889Gln) c.2542G>C (p.Glu848Gln) c.2425G>C (p.Glu809Gln) c.1345G>C (p.Glu449Gln) | |
| 9 | g.114402843C>T | CA374618912 | WHRN | c.979G>A (p.Glu327Lys) c.2635G>A (p.Glu879Lys) c.1608G>A n.2516G>A c.1486G>A (p.Glu496Lys) c.1582G>A (p.Glu528Lys) c.2632G>A (p.Glu878Lys) c.1972G>A (p.Glu658Lys) c.2668G>A (p.Glu890Lys) c.2665G>A (p.Glu889Lys) c.2542G>A (p.Glu848Lys) c.2425G>A (p.Glu809Lys) c.1345G>A (p.Glu449Lys) | COSMIC COSMIC |
| 9 | g.114402845del | CA1873825357 | WHRN | c.979del (p.Glu327ArgfsTer27) c.2635del (p.Glu879ArgfsTer27) c.1608del n.2516del c.1486del (p.Glu496ArgfsTer27) c.1582del (p.Glu528ArgfsTer27) c.2632del (p.Glu878ArgfsTer27) c.1972del (p.Glu658ArgfsTer27) c.2668del (p.Glu890ArgfsTer27) c.2665del (p.Glu889ArgfsTer27) c.2542del (p.Glu848ArgfsTer27) c.2425del (p.Glu809ArgfsTer27) c.1345del (p.Glu449ArgfsTer27) | dbSNP |
| 9 | g.114402844C>A | CA466910840 | WHRN | c.978G>T (p.Arg326=) c.2634G>T (p.Arg878=) c.1607G>T n.2515G>T c.1485G>T (p.Arg495=) c.1581G>T (p.Arg527=) c.2631G>T (p.Arg877=) c.1971G>T (p.Arg657=) c.2667G>T (p.Arg889=) c.2664G>T (p.Arg888=) c.2541G>T (p.Arg847=) c.2424G>T (p.Arg808=) c.1344G>T (p.Arg448=) | |
| 9 | g.114402844C>G | CA466910841 | WHRN | c.978G>C (p.Arg326=) c.2634G>C (p.Arg878=) c.1607G>C n.2515G>C c.1485G>C (p.Arg495=) c.1581G>C (p.Arg527=) c.2631G>C (p.Arg877=) c.1971G>C (p.Arg657=) c.2667G>C (p.Arg889=) c.2664G>C (p.Arg888=) c.2541G>C (p.Arg847=) c.2424G>C (p.Arg808=) c.1344G>C (p.Arg448=) | |
| 9 | g.114402844C>T | CA466910842 | WHRN | c.978G>A (p.Arg326=) c.2634G>A (p.Arg878=) c.1607G>A n.2515G>A c.1485G>A (p.Arg495=) c.1581G>A (p.Arg527=) c.2631G>A (p.Arg877=) c.1971G>A (p.Arg657=) c.2667G>A (p.Arg889=) c.2664G>A (p.Arg888=) c.2541G>A (p.Arg847=) c.2424G>A (p.Arg808=) c.1344G>A (p.Arg448=) | |
| 9 | g.114402845C>A | CA374618913 | WHRN | c.977G>T (p.Arg326Leu) c.2633G>T (p.Arg878Leu) c.1606G>T n.2514G>T c.1484G>T (p.Arg495Leu) c.1580G>T (p.Arg527Leu) c.2630G>T (p.Arg877Leu) c.1970G>T (p.Arg657Leu) c.2666G>T (p.Arg889Leu) c.2663G>T (p.Arg888Leu) c.2540G>T (p.Arg847Leu) c.2423G>T (p.Arg808Leu) c.1343G>T (p.Arg448Leu) | COSMIC COSMIC |
| 9 | g.114402845C= | CA1873825358 | WHRN | c.977G= (p.Arg326=) c.2633G= (p.Arg878=) c.1606G= n.2514G= c.1484G= (p.Arg495=) c.1580G= (p.Arg527=) c.2630G= (p.Arg877=) c.1970G= (p.Arg657=) c.2666G= (p.Arg889=) c.2663G= (p.Arg888=) c.2540G= (p.Arg847=) c.2423G= (p.Arg808=) c.1343G= (p.Arg448=) | |
| 9 | g.114402845C>G | CA374618914 | WHRN | c.977G>C (p.Arg326Pro) c.2633G>C (p.Arg878Pro) c.1606G>C n.2514G>C c.1484G>C (p.Arg495Pro) c.1580G>C (p.Arg527Pro) c.2630G>C (p.Arg877Pro) c.1970G>C (p.Arg657Pro) c.2666G>C (p.Arg889Pro) c.2663G>C (p.Arg888Pro) c.2540G>C (p.Arg847Pro) c.2423G>C (p.Arg808Pro) c.1343G>C (p.Arg448Pro) | |
| 9 | g.114402845C>T | CA5205565 | WHRN | c.977G>A (p.Arg326Gln) c.2633G>A (p.Arg878Gln) c.1606G>A n.2514G>A c.1484G>A (p.Arg495Gln) c.1580G>A (p.Arg527Gln) c.2630G>A (p.Arg877Gln) c.1970G>A (p.Arg657Gln) c.2666G>A (p.Arg889Gln) c.2663G>A (p.Arg888Gln) c.2540G>A (p.Arg847Gln) c.2423G>A (p.Arg808Gln) c.1343G>A (p.Arg448Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114402846G>A | CA198648773 | WHRN | c.976C>T (p.Arg326Trp) c.2632C>T (p.Arg878Trp) c.1605C>T n.2513C>T c.1483C>T (p.Arg495Trp) c.1579C>T (p.Arg527Trp) c.2629C>T (p.Arg877Trp) c.1969C>T (p.Arg657Trp) c.2665C>T (p.Arg889Trp) c.2662C>T (p.Arg888Trp) c.2539C>T (p.Arg847Trp) c.2422C>T (p.Arg808Trp) c.1342C>T (p.Arg448Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114402846G>C | CA374618915 | WHRN | c.976C>G (p.Arg326Gly) c.2632C>G (p.Arg878Gly) c.1605C>G n.2513C>G c.1483C>G (p.Arg495Gly) c.1579C>G (p.Arg527Gly) c.2629C>G (p.Arg877Gly) c.1969C>G (p.Arg657Gly) c.2665C>G (p.Arg889Gly) c.2662C>G (p.Arg888Gly) c.2539C>G (p.Arg847Gly) c.2422C>G (p.Arg808Gly) c.1342C>G (p.Arg448Gly) | |
| 9 | g.114402846G= | CA1873825359 | WHRN | c.976C= (p.Arg326=) c.2632C= (p.Arg878=) c.1605C= n.2513C= c.1483C= (p.Arg495=) c.1579C= (p.Arg527=) c.2629C= (p.Arg877=) c.1969C= (p.Arg657=) c.2665C= (p.Arg889=) c.2662C= (p.Arg888=) c.2539C= (p.Arg847=) c.2422C= (p.Arg808=) c.1342C= (p.Arg448=) | |
| 9 | g.114402846G>T | CA466910845 | WHRN | c.976C>A (p.Arg326=) c.2632C>A (p.Arg878=) c.1605C>A n.2513C>A c.1483C>A (p.Arg495=) c.1579C>A (p.Arg527=) c.2629C>A (p.Arg877=) c.1969C>A (p.Arg657=) c.2665C>A (p.Arg889=) c.2662C>A (p.Arg888=) c.2539C>A (p.Arg847=) c.2422C>A (p.Arg808=) c.1342C>A (p.Arg448=) | |
| 9 | g.114402847G>A | CA5205566 | WHRN | c.975C>T (p.His325=) c.2631C>T (p.His877=) c.1604C>T n.2512C>T c.1482C>T (p.His494=) c.1578C>T (p.His526=) c.2628C>T (p.His876=) c.1968C>T (p.His656=) c.2664C>T (p.His888=) c.2661C>T (p.His887=) c.2538C>T (p.His846=) c.2421C>T (p.His807=) c.1341C>T (p.His447=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114402847G>C | CA374618916 | WHRN | c.975C>G (p.His325Gln) c.2631C>G (p.His877Gln) c.1604C>G n.2512C>G c.1482C>G (p.His494Gln) c.1578C>G (p.His526Gln) c.2628C>G (p.His876Gln) c.1968C>G (p.His656Gln) c.2664C>G (p.His888Gln) c.2661C>G (p.His887Gln) c.2538C>G (p.His846Gln) c.2421C>G (p.His807Gln) c.1341C>G (p.His447Gln) | |
| 9 | g.114402847G= | CA1873825360 | WHRN | c.975C= (p.His325=) c.2631C= (p.His877=) c.1604C= n.2512C= c.1482C= (p.His494=) c.1578C= (p.His526=) c.2628C= (p.His876=) c.1968C= (p.His656=) c.2664C= (p.His888=) c.2661C= (p.His887=) c.2538C= (p.His846=) c.2421C= (p.His807=) c.1341C= (p.His447=) |