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 |
|---|---|---|---|---|---|
| 7 | g.150947372_150953685dup | CA2580614280 | KCNH2 | n.1962-831_3942dup c.1129-831_3109dup c.109-831_2089dup c.829-831_2809dup c.979-831_2959dup c.952-831_2932dup | |
| 7 | g.150948904G>A | CA458645136 | KCNH2 | n.3377C>T c.2544C>T (p.Phe848=) c.1524C>T (p.Phe508=) c.2244C>T (p.Phe748=) c.2394C>T (p.Phe798=) c.2367C>T (p.Phe789=) | |
| 7 | g.150948904G>C | CA369854861 | KCNH2 | n.3377C>G c.2544C>G (p.Phe848Leu) c.1524C>G (p.Phe508Leu) c.2244C>G (p.Phe748Leu) c.2394C>G (p.Phe798Leu) c.2367C>G (p.Phe789Leu) | |
| 7 | g.150948904G>T | CA369854863 | KCNH2 | n.3377C>A c.2544C>A (p.Phe848Leu) c.1524C>A (p.Phe508Leu) c.2244C>A (p.Phe748Leu) c.2394C>A (p.Phe798Leu) c.2367C>A (p.Phe789Leu) | |
| 7 | g.150948905A>C | CA369854865 | KCNH2 | n.3376T>G c.2543T>G (p.Phe848Cys) c.1523T>G (p.Phe508Cys) c.2243T>G (p.Phe748Cys) c.2393T>G (p.Phe798Cys) c.2366T>G (p.Phe789Cys) | |
| 7 | g.150948905A>G | CA369854867 | KCNH2 | n.3376T>C c.2543T>C (p.Phe848Ser) c.1523T>C (p.Phe508Ser) c.2243T>C (p.Phe748Ser) c.2393T>C (p.Phe798Ser) c.2366T>C (p.Phe789Ser) | |
| 7 | g.150948905A>T | CA369854869 | KCNH2 | n.3376T>A c.2543T>A (p.Phe848Tyr) c.1523T>A (p.Phe508Tyr) c.2243T>A (p.Phe748Tyr) c.2393T>A (p.Phe798Tyr) c.2366T>A (p.Phe789Tyr) | |
| 7 | g.150948906A>C | CA369854871 | KCNH2 | n.3375T>G c.2542T>G (p.Phe848Val) c.1522T>G (p.Phe508Val) c.2242T>G (p.Phe748Val) c.2392T>G (p.Phe798Val) c.2365T>G (p.Phe789Val) | |
| 7 | g.150948906A>G | CA369854873 | KCNH2 | n.3375T>C c.2542T>C (p.Phe848Leu) c.1522T>C (p.Phe508Leu) c.2242T>C (p.Phe748Leu) c.2392T>C (p.Phe798Leu) c.2365T>C (p.Phe789Leu) | |
| 7 | g.150948906A>T | CA369854875 | KCNH2 | n.3375T>A c.2542T>A (p.Phe848Ile) c.1522T>A (p.Phe508Ile) c.2242T>A (p.Phe748Ile) c.2392T>A (p.Phe798Ile) c.2365T>A (p.Phe789Ile) | |
| 7 | g.150948907C>A | CA169074754 | KCNH2 | n.3374G>T c.2541G>T (p.Glu847Asp) c.1521G>T (p.Glu507Asp) c.2241G>T (p.Glu747Asp) c.2391G>T (p.Glu797Asp) c.2364G>T (p.Glu788Asp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948907C= | CA1752431896 | KCNH2 | n.3374G= c.2541G= (p.Glu847=) c.1521G= (p.Glu507=) c.2241G= (p.Glu747=) c.2391G= (p.Glu797=) c.2364G= (p.Glu788=) | |
| 7 | g.150948907C>G | CA369854877 | KCNH2 | n.3374G>C c.2541G>C (p.Glu847Asp) c.1521G>C (p.Glu507Asp) c.2241G>C (p.Glu747Asp) c.2391G>C (p.Glu797Asp) c.2364G>C (p.Glu788Asp) | |
| 7 | g.150948907C>T | CA458645137 | KCNH2 | n.3374G>A c.2541G>A (p.Glu847=) c.1521G>A (p.Glu507=) c.2241G>A (p.Glu747=) c.2391G>A (p.Glu797=) c.2364G>A (p.Glu788=) | gnomAD v4 |
| 7 | g.150948907_150948914del | CA2739278692 | KCNH2 | n.3367_3374del c.2534_2541del (p.Tyr845PhefsTer?) c.1514_1521del (p.Tyr505PhefsTer?) c.2234_2241del (p.Tyr745PhefsTer?) c.2384_2391del (p.Tyr795PhefsTer?) c.2357_2364del (p.Tyr786PhefsTer?) | ClinVar |
| 7 | g.150948908T>A | CA369854880 | KCNH2 | n.3373A>T c.2540A>T (p.Glu847Val) c.1520A>T (p.Glu507Val) c.2240A>T (p.Glu747Val) c.2390A>T (p.Glu797Val) c.2363A>T (p.Glu788Val) | |
| 7 | g.150948908T>C | CA369854882 | KCNH2 | n.3373A>G c.2540A>G (p.Glu847Gly) c.1520A>G (p.Glu507Gly) c.2240A>G (p.Glu747Gly) c.2390A>G (p.Glu797Gly) c.2363A>G (p.Glu788Gly) | |
| 7 | g.150948908T>G | CA369854884 | KCNH2 | n.3373A>C c.2540A>C (p.Glu847Ala) c.1520A>C (p.Glu507Ala) c.2240A>C (p.Glu747Ala) c.2390A>C (p.Glu797Ala) c.2363A>C (p.Glu788Ala) | gnomAD v4 |
| 7 | g.150948909C>A | CA369854886 | KCNH2 | n.3372G>T c.2539G>T (p.Glu847Ter) c.1519G>T (p.Glu507Ter) c.2239G>T (p.Glu747Ter) c.2389G>T (p.Glu797Ter) c.2362G>T (p.Glu788Ter) | |
| 7 | g.150948909C>G | CA369854887 | KCNH2 | n.3372G>C c.2539G>C (p.Glu847Gln) c.1519G>C (p.Glu507Gln) c.2239G>C (p.Glu747Gln) c.2389G>C (p.Glu797Gln) c.2362G>C (p.Glu788Gln) | gnomAD v4 |
| 7 | g.150948909C>T | CA369854889 | KCNH2 | n.3372G>A c.2539G>A (p.Glu847Lys) c.1519G>A (p.Glu507Lys) c.2239G>A (p.Glu747Lys) c.2389G>A (p.Glu797Lys) c.2362G>A (p.Glu788Lys) | |
| 7 | g.150948910A= | CA1752431897 | KCNH2 | n.3371T= c.2538T= (p.Pro846=) c.1518T= (p.Pro506=) c.2238T= (p.Pro746=) c.2388T= (p.Pro796=) c.2361T= (p.Pro787=) | |
| 7 | g.150948910A>C | CA458645138 | KCNH2 | n.3371T>G c.2538T>G (p.Pro846=) c.1518T>G (p.Pro506=) c.2238T>G (p.Pro746=) c.2388T>G (p.Pro796=) c.2361T>G (p.Pro787=) | |
| 7 | g.150948910A>G | CA033010 | KCNH2 | n.3371T>C c.2538T>C (p.Pro846=) c.1518T>C (p.Pro506=) c.2238T>C (p.Pro746=) c.2388T>C (p.Pro796=) c.2361T>C (p.Pro787=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150948910A>T | CA458645139 | KCNH2 | n.3371T>A c.2538T>A (p.Pro846=) c.1518T>A (p.Pro506=) c.2238T>A (p.Pro746=) c.2388T>A (p.Pro796=) c.2361T>A (p.Pro787=) | |
| 7 | g.150948911G>A | CA16612301 | KCNH2 | n.3370C>T c.2537C>T (p.Pro846Leu) c.1517C>T (p.Pro506Leu) c.2237C>T (p.Pro746Leu) c.2387C>T (p.Pro796Leu) c.2360C>T (p.Pro787Leu) | ClinVar dbSNP |
| 7 | g.150948911G>C | CA369854893 | KCNH2 | n.3370C>G c.2537C>G (p.Pro846Arg) c.1517C>G (p.Pro506Arg) c.2237C>G (p.Pro746Arg) c.2387C>G (p.Pro796Arg) c.2360C>G (p.Pro787Arg) | |
| 7 | g.150948911G= | CA1752431898 | KCNH2 | n.3370C= c.2537C= (p.Pro846=) c.1517C= (p.Pro506=) c.2237C= (p.Pro746=) c.2387C= (p.Pro796=) c.2360C= (p.Pro787=) | |
| 7 | g.150948911G>T | CA369854895 | KCNH2 | n.3370C>A c.2537C>A (p.Pro846His) c.1517C>A (p.Pro506His) c.2237C>A (p.Pro746His) c.2387C>A (p.Pro796His) c.2360C>A (p.Pro787His) | |
| 7 | g.150948912_150948913del | CA2573141855 | KCNH2 | n.3369_3370del c.2536_2537del (p.Pro846Ter) c.1516_1517del (p.Pro506Ter) c.2236_2237del (p.Pro746Ter) c.2386_2387del (p.Pro796Ter) c.2359_2360del (p.Pro787Ter) | ClinVar dbSNP |
| 7 | g.150948912G>A | CA006916 | KCNH2 | n.3369C>T c.2536C>T (p.Pro846Ser) c.1516C>T (p.Pro506Ser) c.2236C>T (p.Pro746Ser) c.2386C>T (p.Pro796Ser) c.2359C>T (p.Pro787Ser) | ClinVar dbSNP |
| 7 | g.150948912G>C | CA006908 | KCNH2 | n.3369C>G c.2536C>G (p.Pro846Ala) c.1516C>G (p.Pro506Ala) c.2236C>G (p.Pro746Ala) c.2386C>G (p.Pro796Ala) c.2359C>G (p.Pro787Ala) | ClinVar dbSNP |
| 7 | g.150948912G= | CA1752431903 | KCNH2 | n.3369C= c.2536C= (p.Pro846=) c.1516C= (p.Pro506=) c.2236C= (p.Pro746=) c.2386C= (p.Pro796=) c.2359C= (p.Pro787=) | |
| 7 | g.150948912G>T | CA006897 | KCNH2 | n.3369C>A c.2536C>A (p.Pro846Thr) c.1516C>A (p.Pro506Thr) c.2236C>A (p.Pro746Thr) c.2386C>A (p.Pro796Thr) c.2359C>A (p.Pro787Thr) | ClinVar dbSNP |
| 7 | g.150948913G>A | CA169074755 | KCNH2 | n.3368C>T c.2535C>T (p.Tyr845=) c.1515C>T (p.Tyr505=) c.2235C>T (p.Tyr745=) c.2385C>T (p.Tyr795=) c.2358C>T (p.Tyr786=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948913G>C | CA369854902 | KCNH2 | n.3368C>G c.2535C>G (p.Tyr845Ter) c.1515C>G (p.Tyr505Ter) c.2235C>G (p.Tyr745Ter) c.2385C>G (p.Tyr795Ter) c.2358C>G (p.Tyr786Ter) | |
| 7 | g.150948913G= | CA1752431910 | KCNH2 | n.3368C= c.2535C= (p.Tyr845=) c.1515C= (p.Tyr505=) c.2235C= (p.Tyr745=) c.2385C= (p.Tyr795=) c.2358C= (p.Tyr786=) | |
| 7 | g.150948913G>T | CA369854901 | KCNH2 | n.3368C>A c.2535C>A (p.Tyr845Ter) c.1515C>A (p.Tyr505Ter) c.2235C>A (p.Tyr745Ter) c.2385C>A (p.Tyr795Ter) c.2358C>A (p.Tyr786Ter) | |
| 7 | g.150948913_150948916delinsTTAA | CA2695208825 | KCNH2 | n.3365_3368delinsTTAA c.2532_2535delinsTTAA (p.Met844IlefsTer2) c.1512_1515delinsTTAA (p.Met504IlefsTer2) c.2232_2235delinsTTAA (p.Met744IlefsTer2) c.2382_2385delinsTTAA (p.Met794IlefsTer2) c.2355_2358delinsTTAA (p.Met785IlefsTer2) | |
| 7 | g.150948914T>A | CA369854905 | KCNH2 | n.3367A>T c.2534A>T (p.Tyr845Phe) c.1514A>T (p.Tyr505Phe) c.2234A>T (p.Tyr745Phe) c.2384A>T (p.Tyr795Phe) c.2357A>T (p.Tyr786Phe) | |
| 7 | g.150948914T>C | CA369854907 | KCNH2 | n.3367A>G c.2534A>G (p.Tyr845Cys) c.1514A>G (p.Tyr505Cys) c.2234A>G (p.Tyr745Cys) c.2384A>G (p.Tyr795Cys) c.2357A>G (p.Tyr786Cys) | |
| 7 | g.150948914T>G | CA369854908 | KCNH2 | n.3367A>C c.2534A>C (p.Tyr845Ser) c.1514A>C (p.Tyr505Ser) c.2234A>C (p.Tyr745Ser) c.2384A>C (p.Tyr795Ser) c.2357A>C (p.Tyr786Ser) | |
| 7 | g.150948915A>C | CA369854909 | KCNH2 | n.3366T>G c.2533T>G (p.Tyr845Asp) c.1513T>G (p.Tyr505Asp) c.2233T>G (p.Tyr745Asp) c.2383T>G (p.Tyr795Asp) c.2356T>G (p.Tyr786Asp) | gnomAD v4 |
| 7 | g.150948915A>G | CA369854911 | KCNH2 | n.3366T>C c.2533T>C (p.Tyr845His) c.1513T>C (p.Tyr505His) c.2233T>C (p.Tyr745His) c.2383T>C (p.Tyr795His) c.2356T>C (p.Tyr786His) | ClinVar gnomAD v4 |
| 7 | g.150948915A>T | CA369854913 | KCNH2 | n.3366T>A c.2533T>A (p.Tyr845Asn) c.1513T>A (p.Tyr505Asn) c.2233T>A (p.Tyr745Asn) c.2383T>A (p.Tyr795Asn) c.2356T>A (p.Tyr786Asn) | gnomAD v4 |
| 7 | g.150948916C>A | CA369854915 | KCNH2 | n.3365G>T c.2532G>T (p.Met844Ile) c.1512G>T (p.Met504Ile) c.2232G>T (p.Met744Ile) c.2382G>T (p.Met794Ile) c.2355G>T (p.Met785Ile) | |
| 7 | g.150948916C>G | CA369854917 | KCNH2 | n.3365G>C c.2532G>C (p.Met844Ile) c.1512G>C (p.Met504Ile) c.2232G>C (p.Met744Ile) c.2382G>C (p.Met794Ile) c.2355G>C (p.Met785Ile) | |
| 7 | g.150948916C>T | CA369854919 | KCNH2 | n.3365G>A c.2532G>A (p.Met844Ile) c.1512G>A (p.Met504Ile) c.2232G>A (p.Met744Ile) c.2382G>A (p.Met794Ile) c.2355G>A (p.Met785Ile) | |
| 7 | g.150948917A>C | CA369854921 | KCNH2 | n.3364T>G c.2531T>G (p.Met844Arg) c.1511T>G (p.Met504Arg) c.2231T>G (p.Met744Arg) c.2381T>G (p.Met794Arg) c.2354T>G (p.Met785Arg) | ClinVar |
| 7 | g.150948917A>G | CA369854922 | KCNH2 | n.3364T>C c.2531T>C (p.Met844Thr) c.1511T>C (p.Met504Thr) c.2231T>C (p.Met744Thr) c.2381T>C (p.Met794Thr) c.2354T>C (p.Met785Thr) | gnomAD v4 |