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 |
|---|---|---|---|---|---|
| 20 | g.63406889_63407267del | CA2739277253 | KCNQ2 | c.2053_2431del (p.Ala685TrpfsTer?) c.1999_2377del (p.Ala667TrpfsTer?) c.1396_1774del (p.Ala466TrpfsTer?) c.1906_2284del (p.Ala636TrpfsTer?) c.1567_1945del (p.Ala523TrpfsTer?) c.1915_2293del (p.Ala639TrpfsTer?) c.2023_2241+160del c.1987_2205+160del c.1945_2323del (p.Ala649TrpfsTer?) c.1915_2133+160del c.1679+6186_1680-6043del (n.1679+6186_1680-6043del) c.2041_2419del (p.Ala681TrpfsTer?) c.2107_2485del (p.Ala703TrpfsTer?) c.2104_2482del (p.Ala702TrpfsTer?) c.2077_2455del (p.Ala693TrpfsTer?) c.2023_2401del (p.Ala675TrpfsTer?) c.1996_2374del (p.Ala666TrpfsTer?) c.1981_2359del (p.Ala661TrpfsTer?) c.1588_1966del (p.Ala530TrpfsTer?) c.2050_2428del (p.Ala684TrpfsTer?) c.1987_2365del (p.Ala663TrpfsTer?) c.1984_2362del (p.Ala662TrpfsTer?) c.1942_2320del (p.Ala648TrpfsTer?) c.1015_1393del (p.Ala339TrpfsTer?) | ClinVar |
| 20 | g.63406924T>A | CA409637668 | KCNQ2 | c.2393A>T (p.Asn798Ile) c.2339A>T (p.Asn780Ile) c.1736A>T (p.Asn579Ile) c.2246A>T (p.Asn749Ile) c.1907A>T (p.Asn636Ile) c.2255A>T (p.Asn752Ile) c.2241+122A>T (n.2241+122A>T) c.2205+122A>T (n.2205+122A>T) c.2285A>T (p.Asn762Ile) c.2133+122A>T (n.2133+122A>T) c.1680-6081A>T (n.1680-6081A>T) c.2381A>T (p.Asn794Ile) c.2447A>T (p.Asn816Ile) c.2444A>T (p.Asn815Ile) c.2417A>T (p.Asn806Ile) c.2363A>T (p.Asn788Ile) c.2336A>T (p.Asn779Ile) c.2321A>T (p.Asn774Ile) c.1928A>T (p.Asn643Ile) c.2390A>T (p.Asn797Ile) c.2327A>T (p.Asn776Ile) c.2324A>T (p.Asn775Ile) c.2282A>T (p.Asn761Ile) c.1355A>T (p.Asn452Ile) | gnomAD v4 |
| 20 | g.63406924T>C | CA409637671 | KCNQ2 | c.2393A>G (p.Asn798Ser) c.2339A>G (p.Asn780Ser) c.1736A>G (p.Asn579Ser) c.2246A>G (p.Asn749Ser) c.1907A>G (p.Asn636Ser) c.2255A>G (p.Asn752Ser) c.2241+122A>G (n.2241+122A>G) c.2205+122A>G (n.2205+122A>G) c.2285A>G (p.Asn762Ser) c.2133+122A>G (n.2133+122A>G) c.1680-6081A>G (n.1680-6081A>G) c.2381A>G (p.Asn794Ser) c.2447A>G (p.Asn816Ser) c.2444A>G (p.Asn815Ser) c.2417A>G (p.Asn806Ser) c.2363A>G (p.Asn788Ser) c.2336A>G (p.Asn779Ser) c.2321A>G (p.Asn774Ser) c.1928A>G (p.Asn643Ser) c.2390A>G (p.Asn797Ser) c.2327A>G (p.Asn776Ser) c.2324A>G (p.Asn775Ser) c.2282A>G (p.Asn761Ser) c.1355A>G (p.Asn452Ser) | gnomAD v4 |
| 20 | g.63406924T>G | CA285799 | KCNQ2 | c.2393A>C (p.Asn798Thr) c.2339A>C (p.Asn780Thr) c.1736A>C (p.Asn579Thr) c.2246A>C (p.Asn749Thr) c.1907A>C (p.Asn636Thr) c.2255A>C (p.Asn752Thr) c.2241+122A>C (n.2241+122A>C) c.2205+122A>C (n.2205+122A>C) c.2285A>C (p.Asn762Thr) c.2133+122A>C (n.2133+122A>C) c.1680-6081A>C (n.1680-6081A>C) c.2381A>C (p.Asn794Thr) c.2447A>C (p.Asn816Thr) c.2444A>C (p.Asn815Thr) c.2417A>C (p.Asn806Thr) c.2363A>C (p.Asn788Thr) c.2336A>C (p.Asn779Thr) c.2321A>C (p.Asn774Thr) c.1928A>C (p.Asn643Thr) c.2390A>C (p.Asn797Thr) c.2327A>C (p.Asn776Thr) c.2324A>C (p.Asn775Thr) c.2282A>C (p.Asn761Thr) c.1355A>C (p.Asn452Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63406924T= | CA2374774307 | KCNQ2 | c.2393A= (p.Asn798=) c.2339A= (p.Asn780=) c.1736A= (p.Asn579=) c.2246A= (p.Asn749=) c.1907A= (p.Asn636=) c.2255A= (p.Asn752=) c.2241+122A= (n.2241+122A=) c.2205+122A= (n.2205+122A=) c.2285A= (p.Asn762=) c.2133+122A= (n.2133+122A=) c.1680-6081A= (n.1680-6081A=) c.2381A= (p.Asn794=) c.2447A= (p.Asn816=) c.2444A= (p.Asn815=) c.2417A= (p.Asn806=) c.2363A= (p.Asn788=) c.2336A= (p.Asn779=) c.2321A= (p.Asn774=) c.1928A= (p.Asn643=) c.2390A= (p.Asn797=) c.2327A= (p.Asn776=) c.2324A= (p.Asn775=) c.2282A= (p.Asn761=) c.1355A= (p.Asn452=) | |
| 20 | g.63406925del | CA2573157290 | KCNQ2 | c.2393del (p.Asn798ThrfsTer?) c.2339del (p.Asn780ThrfsTer?) c.1736del (p.Asn579ThrfsTer?) c.2246del (p.Asn749ThrfsTer?) c.1907del (p.Asn636ThrfsTer?) c.2255del (p.Asn752ThrfsTer?) c.2241+122del (n.2241+122del) c.2205+122del (n.2205+122del) c.2285del (p.Asn762ThrfsTer?) c.2133+122del (n.2133+122del) c.1680-6081del (n.1680-6081del) c.2381del (p.Asn794ThrfsTer?) c.2447del (p.Asn816ThrfsTer?) c.2444del (p.Asn815ThrfsTer?) c.2417del (p.Asn806ThrfsTer?) c.2363del (p.Asn788ThrfsTer?) c.2336del (p.Asn779ThrfsTer?) c.2321del (p.Asn774ThrfsTer?) c.1928del (p.Asn643ThrfsTer?) c.2390del (p.Asn797ThrfsTer?) c.2327del (p.Asn776ThrfsTer?) c.2324del (p.Asn775ThrfsTer?) c.2282del (p.Asn761ThrfsTer?) c.1355del (p.Asn452ThrfsTer?) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63406925T>A | CA409637676 | KCNQ2 | c.2392A>T (p.Asn798Tyr) c.2338A>T (p.Asn780Tyr) c.1735A>T (p.Asn579Tyr) c.2245A>T (p.Asn749Tyr) c.1906A>T (p.Asn636Tyr) c.2254A>T (p.Asn752Tyr) c.2241+121A>T (n.2241+121A>T) c.2205+121A>T (n.2205+121A>T) c.2284A>T (p.Asn762Tyr) c.2133+121A>T (n.2133+121A>T) c.1680-6082A>T (n.1680-6082A>T) c.2380A>T (p.Asn794Tyr) c.2446A>T (p.Asn816Tyr) c.2443A>T (p.Asn815Tyr) c.2416A>T (p.Asn806Tyr) c.2362A>T (p.Asn788Tyr) c.2335A>T (p.Asn779Tyr) c.2320A>T (p.Asn774Tyr) c.1927A>T (p.Asn643Tyr) c.2389A>T (p.Asn797Tyr) c.2326A>T (p.Asn776Tyr) c.2323A>T (p.Asn775Tyr) c.2281A>T (p.Asn761Tyr) c.1354A>T (p.Asn452Tyr) | |
| 20 | g.63406925T>C | CA409637678 | KCNQ2 | c.2392A>G (p.Asn798Asp) c.2338A>G (p.Asn780Asp) c.1735A>G (p.Asn579Asp) c.2245A>G (p.Asn749Asp) c.1906A>G (p.Asn636Asp) c.2254A>G (p.Asn752Asp) c.2241+121A>G (n.2241+121A>G) c.2205+121A>G (n.2205+121A>G) c.2284A>G (p.Asn762Asp) c.2133+121A>G (n.2133+121A>G) c.1680-6082A>G (n.1680-6082A>G) c.2380A>G (p.Asn794Asp) c.2446A>G (p.Asn816Asp) c.2443A>G (p.Asn815Asp) c.2416A>G (p.Asn806Asp) c.2362A>G (p.Asn788Asp) c.2335A>G (p.Asn779Asp) c.2320A>G (p.Asn774Asp) c.1927A>G (p.Asn643Asp) c.2389A>G (p.Asn797Asp) c.2326A>G (p.Asn776Asp) c.2323A>G (p.Asn775Asp) c.2281A>G (p.Asn761Asp) c.1354A>G (p.Asn452Asp) | gnomAD v4 |
| 20 | g.63406925T>G | CA409637679 | KCNQ2 | c.2392A>C (p.Asn798His) c.2338A>C (p.Asn780His) c.1735A>C (p.Asn579His) c.2245A>C (p.Asn749His) c.1906A>C (p.Asn636His) c.2254A>C (p.Asn752His) c.2241+121A>C (n.2241+121A>C) c.2205+121A>C (n.2205+121A>C) c.2284A>C (p.Asn762His) c.2133+121A>C (n.2133+121A>C) c.1680-6082A>C (n.1680-6082A>C) c.2380A>C (p.Asn794His) c.2446A>C (p.Asn816His) c.2443A>C (p.Asn815His) c.2416A>C (p.Asn806His) c.2362A>C (p.Asn788His) c.2335A>C (p.Asn779His) c.2320A>C (p.Asn774His) c.1927A>C (p.Asn643His) c.2389A>C (p.Asn797His) c.2326A>C (p.Asn776His) c.2323A>C (p.Asn775His) c.2281A>C (p.Asn761His) c.1354A>C (p.Asn452His) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63406925T= | CA2374774308 | KCNQ2 | c.2392A= (p.Asn798=) c.2338A= (p.Asn780=) c.1735A= (p.Asn579=) c.2245A= (p.Asn749=) c.1906A= (p.Asn636=) c.2254A= (p.Asn752=) c.2241+121A= (n.2241+121A=) c.2205+121A= (n.2205+121A=) c.2284A= (p.Asn762=) c.2133+121A= (n.2133+121A=) c.1680-6082A= (n.1680-6082A=) c.2380A= (p.Asn794=) c.2446A= (p.Asn816=) c.2443A= (p.Asn815=) c.2416A= (p.Asn806=) c.2362A= (p.Asn788=) c.2335A= (p.Asn779=) c.2320A= (p.Asn774=) c.1927A= (p.Asn643=) c.2389A= (p.Asn797=) c.2326A= (p.Asn776=) c.2323A= (p.Asn775=) c.2281A= (p.Asn761=) c.1354A= (p.Asn452=) | |
| 20 | g.63406926C>A | CA511339285 | KCNQ2 | c.2391G>T (p.Gly797=) c.2337G>T (p.Gly779=) c.1734G>T (p.Gly578=) c.2244G>T (p.Gly748=) c.1905G>T (p.Gly635=) c.2253G>T (p.Gly751=) c.2241+120G>T (n.2241+120G>T) c.2205+120G>T (n.2205+120G>T) c.2283G>T (p.Gly761=) c.2133+120G>T (n.2133+120G>T) c.1680-6083G>T (n.1680-6083G>T) c.2379G>T (p.Gly793=) c.2445G>T (p.Gly815=) c.2442G>T (p.Gly814=) c.2415G>T (p.Gly805=) c.2361G>T (p.Gly787=) c.2334G>T (p.Gly778=) c.2319G>T (p.Gly773=) c.1926G>T (p.Gly642=) c.2388G>T (p.Gly796=) c.2325G>T (p.Gly775=) c.2322G>T (p.Gly774=) c.2280G>T (p.Gly760=) c.1353G>T (p.Gly451=) | |
| 20 | g.63406926C>G | CA511339286 | KCNQ2 | c.2391G>C (p.Gly797=) c.2337G>C (p.Gly779=) c.1734G>C (p.Gly578=) c.2244G>C (p.Gly748=) c.1905G>C (p.Gly635=) c.2253G>C (p.Gly751=) c.2241+120G>C (n.2241+120G>C) c.2205+120G>C (n.2205+120G>C) c.2283G>C (p.Gly761=) c.2133+120G>C (n.2133+120G>C) c.1680-6083G>C (n.1680-6083G>C) c.2379G>C (p.Gly793=) c.2445G>C (p.Gly815=) c.2442G>C (p.Gly814=) c.2415G>C (p.Gly805=) c.2361G>C (p.Gly787=) c.2334G>C (p.Gly778=) c.2319G>C (p.Gly773=) c.1926G>C (p.Gly642=) c.2388G>C (p.Gly796=) c.2325G>C (p.Gly775=) c.2322G>C (p.Gly774=) c.2280G>C (p.Gly760=) c.1353G>C (p.Gly451=) | |
| 20 | g.63406926C>T | CA511339287 | KCNQ2 | c.2391G>A (p.Gly797=) c.2337G>A (p.Gly779=) c.1734G>A (p.Gly578=) c.2244G>A (p.Gly748=) c.1905G>A (p.Gly635=) c.2253G>A (p.Gly751=) c.2241+120G>A (n.2241+120G>A) c.2205+120G>A (n.2205+120G>A) c.2283G>A (p.Gly761=) c.2133+120G>A (n.2133+120G>A) c.1680-6083G>A (n.1680-6083G>A) c.2379G>A (p.Gly793=) c.2445G>A (p.Gly815=) c.2442G>A (p.Gly814=) c.2415G>A (p.Gly805=) c.2361G>A (p.Gly787=) c.2334G>A (p.Gly778=) c.2319G>A (p.Gly773=) c.1926G>A (p.Gly642=) c.2388G>A (p.Gly796=) c.2325G>A (p.Gly775=) c.2322G>A (p.Gly774=) c.2280G>A (p.Gly760=) c.1353G>A (p.Gly451=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63406927C>A | CA409637683 | KCNQ2 | c.2390G>T (p.Gly797Val) c.2336G>T (p.Gly779Val) c.1733G>T (p.Gly578Val) c.2243G>T (p.Gly748Val) c.1904G>T (p.Gly635Val) c.2252G>T (p.Gly751Val) c.2241+119G>T (n.2241+119G>T) c.2205+119G>T (n.2205+119G>T) c.2282G>T (p.Gly761Val) c.2133+119G>T (n.2133+119G>T) c.1680-6084G>T (n.1680-6084G>T) c.2378G>T (p.Gly793Val) c.2444G>T (p.Gly815Val) c.2441G>T (p.Gly814Val) c.2414G>T (p.Gly805Val) c.2360G>T (p.Gly787Val) c.2333G>T (p.Gly778Val) c.2318G>T (p.Gly773Val) c.1925G>T (p.Gly642Val) c.2387G>T (p.Gly796Val) c.2324G>T (p.Gly775Val) c.2321G>T (p.Gly774Val) c.2279G>T (p.Gly760Val) c.1352G>T (p.Gly451Val) | dbSNP gnomAD v2 |
| 20 | g.63406927C= | CA2374774309 | KCNQ2 | c.2390G= (p.Gly797=) c.2336G= (p.Gly779=) c.1733G= (p.Gly578=) c.2243G= (p.Gly748=) c.1904G= (p.Gly635=) c.2252G= (p.Gly751=) c.2241+119G= (n.2241+119G=) c.2205+119G= (n.2205+119G=) c.2282G= (p.Gly761=) c.2133+119G= (n.2133+119G=) c.1680-6084G= (n.1680-6084G=) c.2378G= (p.Gly793=) c.2444G= (p.Gly815=) c.2441G= (p.Gly814=) c.2414G= (p.Gly805=) c.2360G= (p.Gly787=) c.2333G= (p.Gly778=) c.2318G= (p.Gly773=) c.1925G= (p.Gly642=) c.2387G= (p.Gly796=) c.2324G= (p.Gly775=) c.2321G= (p.Gly774=) c.2279G= (p.Gly760=) c.1352G= (p.Gly451=) | |
| 20 | g.63406927C>G | CA409637685 | KCNQ2 | c.2390G>C (p.Gly797Ala) c.2336G>C (p.Gly779Ala) c.1733G>C (p.Gly578Ala) c.2243G>C (p.Gly748Ala) c.1904G>C (p.Gly635Ala) c.2252G>C (p.Gly751Ala) c.2241+119G>C (n.2241+119G>C) c.2205+119G>C (n.2205+119G>C) c.2282G>C (p.Gly761Ala) c.2133+119G>C (n.2133+119G>C) c.1680-6084G>C (n.1680-6084G>C) c.2378G>C (p.Gly793Ala) c.2444G>C (p.Gly815Ala) c.2441G>C (p.Gly814Ala) c.2414G>C (p.Gly805Ala) c.2360G>C (p.Gly787Ala) c.2333G>C (p.Gly778Ala) c.2318G>C (p.Gly773Ala) c.1925G>C (p.Gly642Ala) c.2387G>C (p.Gly796Ala) c.2324G>C (p.Gly775Ala) c.2321G>C (p.Gly774Ala) c.2279G>C (p.Gly760Ala) c.1352G>C (p.Gly451Ala) | |
| 20 | g.63406927C>T | CA317421851 | KCNQ2 | c.2390G>A (p.Gly797Glu) c.2336G>A (p.Gly779Glu) c.1733G>A (p.Gly578Glu) c.2243G>A (p.Gly748Glu) c.1904G>A (p.Gly635Glu) c.2252G>A (p.Gly751Glu) c.2241+119G>A (n.2241+119G>A) c.2205+119G>A (n.2205+119G>A) c.2282G>A (p.Gly761Glu) c.2133+119G>A (n.2133+119G>A) c.1680-6084G>A (n.1680-6084G>A) c.2378G>A (p.Gly793Glu) c.2444G>A (p.Gly815Glu) c.2441G>A (p.Gly814Glu) c.2414G>A (p.Gly805Glu) c.2360G>A (p.Gly787Glu) c.2333G>A (p.Gly778Glu) c.2318G>A (p.Gly773Glu) c.1925G>A (p.Gly642Glu) c.2387G>A (p.Gly796Glu) c.2324G>A (p.Gly775Glu) c.2321G>A (p.Gly774Glu) c.2279G>A (p.Gly760Glu) c.1352G>A (p.Gly451Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63406928C>A | CA409637694 | KCNQ2 | c.2389G>T (p.Gly797Trp) c.2335G>T (p.Gly779Trp) c.1732G>T (p.Gly578Trp) c.2242G>T (p.Gly748Trp) c.1903G>T (p.Gly635Trp) c.2251G>T (p.Gly751Trp) c.2241+118G>T (n.2241+118G>T) c.2205+118G>T (n.2205+118G>T) c.2281G>T (p.Gly761Trp) c.2133+118G>T (n.2133+118G>T) c.1680-6085G>T (n.1680-6085G>T) c.2377G>T (p.Gly793Trp) c.2443G>T (p.Gly815Trp) c.2440G>T (p.Gly814Trp) c.2413G>T (p.Gly805Trp) c.2359G>T (p.Gly787Trp) c.2332G>T (p.Gly778Trp) c.2317G>T (p.Gly773Trp) c.1924G>T (p.Gly642Trp) c.2386G>T (p.Gly796Trp) c.2323G>T (p.Gly775Trp) c.2320G>T (p.Gly774Trp) c.2278G>T (p.Gly760Trp) c.1351G>T (p.Gly451Trp) | |
| 20 | g.63406928C= | CA2374774310 | KCNQ2 | c.2389G= (p.Gly797=) c.2335G= (p.Gly779=) c.1732G= (p.Gly578=) c.2242G= (p.Gly748=) c.1903G= (p.Gly635=) c.2251G= (p.Gly751=) c.2241+118G= (n.2241+118G=) c.2205+118G= (n.2205+118G=) c.2281G= (p.Gly761=) c.2133+118G= (n.2133+118G=) c.1680-6085G= (n.1680-6085G=) c.2377G= (p.Gly793=) c.2443G= (p.Gly815=) c.2440G= (p.Gly814=) c.2413G= (p.Gly805=) c.2359G= (p.Gly787=) c.2332G= (p.Gly778=) c.2317G= (p.Gly773=) c.1924G= (p.Gly642=) c.2386G= (p.Gly796=) c.2323G= (p.Gly775=) c.2320G= (p.Gly774=) c.2278G= (p.Gly760=) c.1351G= (p.Gly451=) | |
| 20 | g.63406928C>G | CA409637692 | KCNQ2 | c.2389G>C (p.Gly797Arg) c.2335G>C (p.Gly779Arg) c.1732G>C (p.Gly578Arg) c.2242G>C (p.Gly748Arg) c.1903G>C (p.Gly635Arg) c.2251G>C (p.Gly751Arg) c.2241+118G>C (n.2241+118G>C) c.2205+118G>C (n.2205+118G>C) c.2281G>C (p.Gly761Arg) c.2133+118G>C (n.2133+118G>C) c.1680-6085G>C (n.1680-6085G>C) c.2377G>C (p.Gly793Arg) c.2443G>C (p.Gly815Arg) c.2440G>C (p.Gly814Arg) c.2413G>C (p.Gly805Arg) c.2359G>C (p.Gly787Arg) c.2332G>C (p.Gly778Arg) c.2317G>C (p.Gly773Arg) c.1924G>C (p.Gly642Arg) c.2386G>C (p.Gly796Arg) c.2323G>C (p.Gly775Arg) c.2320G>C (p.Gly774Arg) c.2278G>C (p.Gly760Arg) c.1351G>C (p.Gly451Arg) | |
| 20 | g.63406928C>T | CA409637689 | KCNQ2 | c.2389G>A (p.Gly797Arg) c.2335G>A (p.Gly779Arg) c.1732G>A (p.Gly578Arg) c.2242G>A (p.Gly748Arg) c.1903G>A (p.Gly635Arg) c.2251G>A (p.Gly751Arg) c.2241+118G>A (n.2241+118G>A) c.2205+118G>A (n.2205+118G>A) c.2281G>A (p.Gly761Arg) c.2133+118G>A (n.2133+118G>A) c.1680-6085G>A (n.1680-6085G>A) c.2377G>A (p.Gly793Arg) c.2443G>A (p.Gly815Arg) c.2440G>A (p.Gly814Arg) c.2413G>A (p.Gly805Arg) c.2359G>A (p.Gly787Arg) c.2332G>A (p.Gly778Arg) c.2317G>A (p.Gly773Arg) c.1924G>A (p.Gly642Arg) c.2386G>A (p.Gly796Arg) c.2323G>A (p.Gly775Arg) c.2320G>A (p.Gly774Arg) c.2278G>A (p.Gly760Arg) c.1351G>A (p.Gly451Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63406929C>A | CA409637698 | KCNQ2 | c.2388G>T (p.Glu796Asp) c.2334G>T (p.Glu778Asp) c.1731G>T (p.Glu577Asp) c.2241G>T (p.Glu747Asp) c.1902G>T (p.Glu634Asp) c.2250G>T (p.Glu750Asp) c.2241+117G>T (n.2241+117G>T) c.2205+117G>T (n.2205+117G>T) c.2280G>T (p.Glu760Asp) c.2133+117G>T (n.2133+117G>T) c.1680-6086G>T (n.1680-6086G>T) c.2376G>T (p.Glu792Asp) c.2442G>T (p.Glu814Asp) c.2439G>T (p.Glu813Asp) c.2412G>T (p.Glu804Asp) c.2358G>T (p.Glu786Asp) c.2331G>T (p.Glu777Asp) c.2316G>T (p.Glu772Asp) c.1923G>T (p.Glu641Asp) c.2385G>T (p.Glu795Asp) c.2322G>T (p.Glu774Asp) c.2319G>T (p.Glu773Asp) c.2277G>T (p.Glu759Asp) c.1350G>T (p.Glu450Asp) | gnomAD v4 |
| 20 | g.63406929C= | CA2374774311 | KCNQ2 | c.2388G= (p.Glu796=) c.2334G= (p.Glu778=) c.1731G= (p.Glu577=) c.2241G= (p.Glu747=) c.1902G= (p.Glu634=) c.2250G= (p.Glu750=) c.2241+117G= (n.2241+117G=) c.2205+117G= (n.2205+117G=) c.2280G= (p.Glu760=) c.2133+117G= (n.2133+117G=) c.1680-6086G= (n.1680-6086G=) c.2376G= (p.Glu792=) c.2442G= (p.Glu814=) c.2439G= (p.Glu813=) c.2412G= (p.Glu804=) c.2358G= (p.Glu786=) c.2331G= (p.Glu777=) c.2316G= (p.Glu772=) c.1923G= (p.Glu641=) c.2385G= (p.Glu795=) c.2322G= (p.Glu774=) c.2319G= (p.Glu773=) c.2277G= (p.Glu759=) c.1350G= (p.Glu450=) | |
| 20 | g.63406929C>G | CA409637701 | KCNQ2 | c.2388G>C (p.Glu796Asp) c.2334G>C (p.Glu778Asp) c.1731G>C (p.Glu577Asp) c.2241G>C (p.Glu747Asp) c.1902G>C (p.Glu634Asp) c.2250G>C (p.Glu750Asp) c.2241+117G>C (n.2241+117G>C) c.2205+117G>C (n.2205+117G>C) c.2280G>C (p.Glu760Asp) c.2133+117G>C (n.2133+117G>C) c.1680-6086G>C (n.1680-6086G>C) c.2376G>C (p.Glu792Asp) c.2442G>C (p.Glu814Asp) c.2439G>C (p.Glu813Asp) c.2412G>C (p.Glu804Asp) c.2358G>C (p.Glu786Asp) c.2331G>C (p.Glu777Asp) c.2316G>C (p.Glu772Asp) c.1923G>C (p.Glu641Asp) c.2385G>C (p.Glu795Asp) c.2322G>C (p.Glu774Asp) c.2319G>C (p.Glu773Asp) c.2277G>C (p.Glu759Asp) c.1350G>C (p.Glu450Asp) | |
| 20 | g.63406929C>T | CA511339293 | KCNQ2 | c.2388G>A (p.Glu796=) c.2334G>A (p.Glu778=) c.1731G>A (p.Glu577=) c.2241G>A (p.Glu747=) c.1902G>A (p.Glu634=) c.2250G>A (p.Glu750=) c.2241+117G>A (n.2241+117G>A) c.2205+117G>A (n.2205+117G>A) c.2280G>A (p.Glu760=) c.2133+117G>A (n.2133+117G>A) c.1680-6086G>A (n.1680-6086G>A) c.2376G>A (p.Glu792=) c.2442G>A (p.Glu814=) c.2439G>A (p.Glu813=) c.2412G>A (p.Glu804=) c.2358G>A (p.Glu786=) c.2331G>A (p.Glu777=) c.2316G>A (p.Glu772=) c.1923G>A (p.Glu641=) c.2385G>A (p.Glu795=) c.2322G>A (p.Glu774=) c.2319G>A (p.Glu773=) c.2277G>A (p.Glu759=) c.1350G>A (p.Glu450=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63406930T>A | CA9958096 | KCNQ2 | c.2387A>T (p.Glu796Val) c.2333A>T (p.Glu778Val) c.1730A>T (p.Glu577Val) c.2240A>T (p.Glu747Val) c.1901A>T (p.Glu634Val) c.2249A>T (p.Glu750Val) c.2241+116A>T (n.2241+116A>T) c.2205+116A>T (n.2205+116A>T) c.2279A>T (p.Glu760Val) c.2133+116A>T (n.2133+116A>T) c.1680-6087A>T (n.1680-6087A>T) c.2375A>T (p.Glu792Val) c.2441A>T (p.Glu814Val) c.2438A>T (p.Glu813Val) c.2411A>T (p.Glu804Val) c.2357A>T (p.Glu786Val) c.2330A>T (p.Glu777Val) c.2315A>T (p.Glu772Val) c.1922A>T (p.Glu641Val) c.2384A>T (p.Glu795Val) c.2321A>T (p.Glu774Val) c.2318A>T (p.Glu773Val) c.2276A>T (p.Glu759Val) c.1349A>T (p.Glu450Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63406930T>C | CA409637707 | KCNQ2 | c.2387A>G (p.Glu796Gly) c.2333A>G (p.Glu778Gly) c.1730A>G (p.Glu577Gly) c.2240A>G (p.Glu747Gly) c.1901A>G (p.Glu634Gly) c.2249A>G (p.Glu750Gly) c.2241+116A>G (n.2241+116A>G) c.2205+116A>G (n.2205+116A>G) c.2279A>G (p.Glu760Gly) c.2133+116A>G (n.2133+116A>G) c.1680-6087A>G (n.1680-6087A>G) c.2375A>G (p.Glu792Gly) c.2441A>G (p.Glu814Gly) c.2438A>G (p.Glu813Gly) c.2411A>G (p.Glu804Gly) c.2357A>G (p.Glu786Gly) c.2330A>G (p.Glu777Gly) c.2315A>G (p.Glu772Gly) c.1922A>G (p.Glu641Gly) c.2384A>G (p.Glu795Gly) c.2321A>G (p.Glu774Gly) c.2318A>G (p.Glu773Gly) c.2276A>G (p.Glu759Gly) c.1349A>G (p.Glu450Gly) | gnomAD v4 |
| 20 | g.63406930T>G | CA409637709 | KCNQ2 | c.2387A>C (p.Glu796Ala) c.2333A>C (p.Glu778Ala) c.1730A>C (p.Glu577Ala) c.2240A>C (p.Glu747Ala) c.1901A>C (p.Glu634Ala) c.2249A>C (p.Glu750Ala) c.2241+116A>C (n.2241+116A>C) c.2205+116A>C (n.2205+116A>C) c.2279A>C (p.Glu760Ala) c.2133+116A>C (n.2133+116A>C) c.1680-6087A>C (n.1680-6087A>C) c.2375A>C (p.Glu792Ala) c.2441A>C (p.Glu814Ala) c.2438A>C (p.Glu813Ala) c.2411A>C (p.Glu804Ala) c.2357A>C (p.Glu786Ala) c.2330A>C (p.Glu777Ala) c.2315A>C (p.Glu772Ala) c.1922A>C (p.Glu641Ala) c.2384A>C (p.Glu795Ala) c.2321A>C (p.Glu774Ala) c.2318A>C (p.Glu773Ala) c.2276A>C (p.Glu759Ala) c.1349A>C (p.Glu450Ala) | |
| 20 | g.63406930T= | CA2374774312 | KCNQ2 | c.2387A= (p.Glu796=) c.2333A= (p.Glu778=) c.1730A= (p.Glu577=) c.2240A= (p.Glu747=) c.1901A= (p.Glu634=) c.2249A= (p.Glu750=) c.2241+116A= (n.2241+116A=) c.2205+116A= (n.2205+116A=) c.2279A= (p.Glu760=) c.2133+116A= (n.2133+116A=) c.1680-6087A= (n.1680-6087A=) c.2375A= (p.Glu792=) c.2441A= (p.Glu814=) c.2438A= (p.Glu813=) c.2411A= (p.Glu804=) c.2357A= (p.Glu786=) c.2330A= (p.Glu777=) c.2315A= (p.Glu772=) c.1922A= (p.Glu641=) c.2384A= (p.Glu795=) c.2321A= (p.Glu774=) c.2318A= (p.Glu773=) c.2276A= (p.Glu759=) c.1349A= (p.Glu450=) | |
| 20 | g.63406931C>A | CA409637718 | KCNQ2 | c.2386G>T (p.Glu796Ter) c.2332G>T (p.Glu778Ter) c.1729G>T (p.Glu577Ter) c.2239G>T (p.Glu747Ter) c.1900G>T (p.Glu634Ter) c.2248G>T (p.Glu750Ter) c.2241+115G>T (n.2241+115G>T) c.2205+115G>T (n.2205+115G>T) c.2278G>T (p.Glu760Ter) c.2133+115G>T (n.2133+115G>T) c.1680-6088G>T (n.1680-6088G>T) c.2374G>T (p.Glu792Ter) c.2440G>T (p.Glu814Ter) c.2437G>T (p.Glu813Ter) c.2410G>T (p.Glu804Ter) c.2356G>T (p.Glu786Ter) c.2329G>T (p.Glu777Ter) c.2314G>T (p.Glu772Ter) c.1921G>T (p.Glu641Ter) c.2383G>T (p.Glu795Ter) c.2320G>T (p.Glu774Ter) c.2317G>T (p.Glu773Ter) c.2275G>T (p.Glu759Ter) c.1348G>T (p.Glu450Ter) | gnomAD v4 |
| 20 | g.63406931C= | CA2374774313 | KCNQ2 | c.2386G= (p.Glu796=) c.2332G= (p.Glu778=) c.1729G= (p.Glu577=) c.2239G= (p.Glu747=) c.1900G= (p.Glu634=) c.2248G= (p.Glu750=) c.2241+115G= (n.2241+115G=) c.2205+115G= (n.2205+115G=) c.2278G= (p.Glu760=) c.2133+115G= (n.2133+115G=) c.1680-6088G= (n.1680-6088G=) c.2374G= (p.Glu792=) c.2440G= (p.Glu814=) c.2437G= (p.Glu813=) c.2410G= (p.Glu804=) c.2356G= (p.Glu786=) c.2329G= (p.Glu777=) c.2314G= (p.Glu772=) c.1921G= (p.Glu641=) c.2383G= (p.Glu795=) c.2320G= (p.Glu774=) c.2317G= (p.Glu773=) c.2275G= (p.Glu759=) c.1348G= (p.Glu450=) | |
| 20 | g.63406931C>G | CA409637717 | KCNQ2 | c.2386G>C (p.Glu796Gln) c.2332G>C (p.Glu778Gln) c.1729G>C (p.Glu577Gln) c.2239G>C (p.Glu747Gln) c.1900G>C (p.Glu634Gln) c.2248G>C (p.Glu750Gln) c.2241+115G>C (n.2241+115G>C) c.2205+115G>C (n.2205+115G>C) c.2278G>C (p.Glu760Gln) c.2133+115G>C (n.2133+115G>C) c.1680-6088G>C (n.1680-6088G>C) c.2374G>C (p.Glu792Gln) c.2440G>C (p.Glu814Gln) c.2437G>C (p.Glu813Gln) c.2410G>C (p.Glu804Gln) c.2356G>C (p.Glu786Gln) c.2329G>C (p.Glu777Gln) c.2314G>C (p.Glu772Gln) c.1921G>C (p.Glu641Gln) c.2383G>C (p.Glu795Gln) c.2320G>C (p.Glu774Gln) c.2317G>C (p.Glu773Gln) c.2275G>C (p.Glu759Gln) c.1348G>C (p.Glu450Gln) | |
| 20 | g.63406931C>T | CA409637713 | KCNQ2 | c.2386G>A (p.Glu796Lys) c.2332G>A (p.Glu778Lys) c.1729G>A (p.Glu577Lys) c.2239G>A (p.Glu747Lys) c.1900G>A (p.Glu634Lys) c.2248G>A (p.Glu750Lys) c.2241+115G>A (n.2241+115G>A) c.2205+115G>A (n.2205+115G>A) c.2278G>A (p.Glu760Lys) c.2133+115G>A (n.2133+115G>A) c.1680-6088G>A (n.1680-6088G>A) c.2374G>A (p.Glu792Lys) c.2440G>A (p.Glu814Lys) c.2437G>A (p.Glu813Lys) c.2410G>A (p.Glu804Lys) c.2356G>A (p.Glu786Lys) c.2329G>A (p.Glu777Lys) c.2314G>A (p.Glu772Lys) c.1921G>A (p.Glu641Lys) c.2383G>A (p.Glu795Lys) c.2320G>A (p.Glu774Lys) c.2317G>A (p.Glu773Lys) c.2275G>A (p.Glu759Lys) c.1348G>A (p.Glu450Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63406932G>A | CA16609050 | KCNQ2 | c.2385C>T (p.Pro795=) c.2331C>T (p.Pro777=) c.1728C>T (p.Pro576=) c.2238C>T (p.Pro746=) c.1899C>T (p.Pro633=) c.2247C>T (p.Pro749=) c.2241+114C>T (n.2241+114C>T) c.2205+114C>T (n.2205+114C>T) c.2277C>T (p.Pro759=) c.2133+114C>T (n.2133+114C>T) c.1680-6089C>T (n.1680-6089C>T) c.2373C>T (p.Pro791=) c.2439C>T (p.Pro813=) c.2436C>T (p.Pro812=) c.2409C>T (p.Pro803=) c.2355C>T (p.Pro785=) c.2328C>T (p.Pro776=) c.2313C>T (p.Pro771=) c.1920C>T (p.Pro640=) c.2382C>T (p.Pro794=) c.2319C>T (p.Pro773=) c.2316C>T (p.Pro772=) c.2274C>T (p.Pro758=) c.1347C>T (p.Pro449=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63406932G>C | CA511339296 | KCNQ2 | c.2385C>G (p.Pro795=) c.2331C>G (p.Pro777=) c.1728C>G (p.Pro576=) c.2238C>G (p.Pro746=) c.1899C>G (p.Pro633=) c.2247C>G (p.Pro749=) c.2241+114C>G (n.2241+114C>G) c.2205+114C>G (n.2205+114C>G) c.2277C>G (p.Pro759=) c.2133+114C>G (n.2133+114C>G) c.1680-6089C>G (n.1680-6089C>G) c.2373C>G (p.Pro791=) c.2439C>G (p.Pro813=) c.2436C>G (p.Pro812=) c.2409C>G (p.Pro803=) c.2355C>G (p.Pro785=) c.2328C>G (p.Pro776=) c.2313C>G (p.Pro771=) c.1920C>G (p.Pro640=) c.2382C>G (p.Pro794=) c.2319C>G (p.Pro773=) c.2316C>G (p.Pro772=) c.2274C>G (p.Pro758=) c.1347C>G (p.Pro449=) | gnomAD v4 |
| 20 | g.63406932G= | CA2374774314 | KCNQ2 | c.2385C= (p.Pro795=) c.2331C= (p.Pro777=) c.1728C= (p.Pro576=) c.2238C= (p.Pro746=) c.1899C= (p.Pro633=) c.2247C= (p.Pro749=) c.2241+114C= (n.2241+114C=) c.2205+114C= (n.2205+114C=) c.2277C= (p.Pro759=) c.2133+114C= (n.2133+114C=) c.1680-6089C= (n.1680-6089C=) c.2373C= (p.Pro791=) c.2439C= (p.Pro813=) c.2436C= (p.Pro812=) c.2409C= (p.Pro803=) c.2355C= (p.Pro785=) c.2328C= (p.Pro776=) c.2313C= (p.Pro771=) c.1920C= (p.Pro640=) c.2382C= (p.Pro794=) c.2319C= (p.Pro773=) c.2316C= (p.Pro772=) c.2274C= (p.Pro758=) c.1347C= (p.Pro449=) | |
| 20 | g.63406932G>T | CA511339297 | KCNQ2 | c.2385C>A (p.Pro795=) c.2331C>A (p.Pro777=) c.1728C>A (p.Pro576=) c.2238C>A (p.Pro746=) c.1899C>A (p.Pro633=) c.2247C>A (p.Pro749=) c.2241+114C>A (n.2241+114C>A) c.2205+114C>A (n.2205+114C>A) c.2277C>A (p.Pro759=) c.2133+114C>A (n.2133+114C>A) c.1680-6089C>A (n.1680-6089C>A) c.2373C>A (p.Pro791=) c.2439C>A (p.Pro813=) c.2436C>A (p.Pro812=) c.2409C>A (p.Pro803=) c.2355C>A (p.Pro785=) c.2328C>A (p.Pro776=) c.2313C>A (p.Pro771=) c.1920C>A (p.Pro640=) c.2382C>A (p.Pro794=) c.2319C>A (p.Pro773=) c.2316C>A (p.Pro772=) c.2274C>A (p.Pro758=) c.1347C>A (p.Pro449=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63406937dup | CA2580098408 | KCNQ2 | c.2385dup (p.Glu796ArgfsTer?) c.2331dup (p.Glu778ArgfsTer?) c.1728dup (p.Glu577ArgfsTer?) c.2238dup (p.Glu747ArgfsTer?) c.1899dup (p.Glu634ArgfsTer?) c.2247dup (p.Glu750ArgfsTer?) c.2241+114dup (n.2241+114dup) c.2205+114dup (n.2205+114dup) c.2277dup (p.Glu760ArgfsTer?) c.2133+114dup (n.2133+114dup) c.1680-6089dup (n.1680-6089dup) c.2373dup (p.Glu792ArgfsTer?) c.2439dup (p.Glu814ArgfsTer?) c.2436dup (p.Glu813ArgfsTer?) c.2409dup (p.Glu804ArgfsTer?) c.2355dup (p.Glu786ArgfsTer?) c.2328dup (p.Glu777ArgfsTer?) c.2313dup (p.Glu772ArgfsTer?) c.1920dup (p.Glu641ArgfsTer?) c.2382dup (p.Glu795ArgfsTer?) c.2319dup (p.Glu774ArgfsTer?) c.2316dup (p.Glu773ArgfsTer?) c.2274dup (p.Glu759ArgfsTer?) c.1347dup (p.Glu450ArgfsTer?) | ClinVar gnomAD v4 |
| 20 | g.63406936_63406937dup | CA2573130266 | KCNQ2 | c.2384_2385dup (p.Glu796ProfsTer?) c.2330_2331dup (p.Glu778ProfsTer?) c.1727_1728dup (p.Glu577ProfsTer?) c.2237_2238dup (p.Glu747ProfsTer?) c.1898_1899dup (p.Glu634ProfsTer?) c.2246_2247dup (p.Glu750ProfsTer?) c.2241+113_2241+114dup (n.2241+113_2241+114dup) c.2205+113_2205+114dup (n.2205+113_2205+114dup) c.2276_2277dup (p.Glu760ProfsTer?) c.2133+113_2133+114dup (n.2133+113_2133+114dup) c.1680-6090_1680-6089dup (n.1680-6090_1680-6089dup) c.2372_2373dup (p.Glu792ProfsTer?) c.2438_2439dup (p.Glu814ProfsTer?) c.2435_2436dup (p.Glu813ProfsTer?) c.2408_2409dup (p.Glu804ProfsTer?) c.2354_2355dup (p.Glu786ProfsTer?) c.2327_2328dup (p.Glu777ProfsTer?) c.2312_2313dup (p.Glu772ProfsTer?) c.1919_1920dup (p.Glu641ProfsTer?) c.2381_2382dup (p.Glu795ProfsTer?) c.2318_2319dup (p.Glu774ProfsTer?) c.2315_2316dup (p.Glu773ProfsTer?) c.2273_2274dup (p.Glu759ProfsTer?) c.1346_1347dup (p.Glu450ProfsTer?) | ClinVar |
| 20 | g.63406937del | CA645608743 | KCNQ2 | c.2385del (p.Glu796ArgfsTer?) c.2331del (p.Glu778ArgfsTer?) c.1728del (p.Glu577ArgfsTer?) c.2238del (p.Glu747ArgfsTer?) c.1899del (p.Glu634ArgfsTer?) c.2247del (p.Glu750ArgfsTer?) c.2241+114del (n.2241+114del) c.2205+114del (n.2205+114del) c.2277del (p.Glu760ArgfsTer?) c.2133+114del (n.2133+114del) c.1680-6089del (n.1680-6089del) c.2373del (p.Glu792ArgfsTer?) c.2439del (p.Glu814ArgfsTer?) c.2436del (p.Glu813ArgfsTer?) c.2409del (p.Glu804ArgfsTer?) c.2355del (p.Glu786ArgfsTer?) c.2328del (p.Glu777ArgfsTer?) c.2313del (p.Glu772ArgfsTer?) c.1920del (p.Glu641ArgfsTer?) c.2382del (p.Glu795ArgfsTer?) c.2319del (p.Glu774ArgfsTer?) c.2316del (p.Glu773ArgfsTer?) c.2274del (p.Glu759ArgfsTer?) c.1347del (p.Glu450ArgfsTer?) | gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63406933G>A | CA9958097 | KCNQ2 | c.2384C>T (p.Pro795Leu) c.2330C>T (p.Pro777Leu) c.1727C>T (p.Pro576Leu) c.2237C>T (p.Pro746Leu) c.1898C>T (p.Pro633Leu) c.2246C>T (p.Pro749Leu) c.2241+113C>T (n.2241+113C>T) c.2205+113C>T (n.2205+113C>T) c.2276C>T (p.Pro759Leu) c.2133+113C>T (n.2133+113C>T) c.1680-6090C>T (n.1680-6090C>T) c.2372C>T (p.Pro791Leu) c.2438C>T (p.Pro813Leu) c.2435C>T (p.Pro812Leu) c.2408C>T (p.Pro803Leu) c.2354C>T (p.Pro785Leu) c.2327C>T (p.Pro776Leu) c.2312C>T (p.Pro771Leu) c.1919C>T (p.Pro640Leu) c.2381C>T (p.Pro794Leu) c.2318C>T (p.Pro773Leu) c.2315C>T (p.Pro772Leu) c.2273C>T (p.Pro758Leu) c.1346C>T (p.Pro449Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63406933G>C | CA315321 | KCNQ2 | c.2384C>G (p.Pro795Arg) c.2330C>G (p.Pro777Arg) c.1727C>G (p.Pro576Arg) c.2237C>G (p.Pro746Arg) c.1898C>G (p.Pro633Arg) c.2246C>G (p.Pro749Arg) c.2241+113C>G (n.2241+113C>G) c.2205+113C>G (n.2205+113C>G) c.2276C>G (p.Pro759Arg) c.2133+113C>G (n.2133+113C>G) c.1680-6090C>G (n.1680-6090C>G) c.2372C>G (p.Pro791Arg) c.2438C>G (p.Pro813Arg) c.2435C>G (p.Pro812Arg) c.2408C>G (p.Pro803Arg) c.2354C>G (p.Pro785Arg) c.2327C>G (p.Pro776Arg) c.2312C>G (p.Pro771Arg) c.1919C>G (p.Pro640Arg) c.2381C>G (p.Pro794Arg) c.2318C>G (p.Pro773Arg) c.2315C>G (p.Pro772Arg) c.2273C>G (p.Pro758Arg) c.1346C>G (p.Pro449Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63406933G= | CA2374774315 | KCNQ2 | c.2384C= (p.Pro795=) c.2330C= (p.Pro777=) c.1727C= (p.Pro576=) c.2237C= (p.Pro746=) c.1898C= (p.Pro633=) c.2246C= (p.Pro749=) c.2241+113C= (n.2241+113C=) c.2205+113C= (n.2205+113C=) c.2276C= (p.Pro759=) c.2133+113C= (n.2133+113C=) c.1680-6090C= (n.1680-6090C=) c.2372C= (p.Pro791=) c.2438C= (p.Pro813=) c.2435C= (p.Pro812=) c.2408C= (p.Pro803=) c.2354C= (p.Pro785=) c.2327C= (p.Pro776=) c.2312C= (p.Pro771=) c.1919C= (p.Pro640=) c.2381C= (p.Pro794=) c.2318C= (p.Pro773=) c.2315C= (p.Pro772=) c.2273C= (p.Pro758=) c.1346C= (p.Pro449=) | |
| 20 | g.63406933G>T | CA409637726 | KCNQ2 | c.2384C>A (p.Pro795His) c.2330C>A (p.Pro777His) c.1727C>A (p.Pro576His) c.2237C>A (p.Pro746His) c.1898C>A (p.Pro633His) c.2246C>A (p.Pro749His) c.2241+113C>A (n.2241+113C>A) c.2205+113C>A (n.2205+113C>A) c.2276C>A (p.Pro759His) c.2133+113C>A (n.2133+113C>A) c.1680-6090C>A (n.1680-6090C>A) c.2372C>A (p.Pro791His) c.2438C>A (p.Pro813His) c.2435C>A (p.Pro812His) c.2408C>A (p.Pro803His) c.2354C>A (p.Pro785His) c.2327C>A (p.Pro776His) c.2312C>A (p.Pro771His) c.1919C>A (p.Pro640His) c.2381C>A (p.Pro794His) c.2318C>A (p.Pro773His) c.2315C>A (p.Pro772His) c.2273C>A (p.Pro758His) c.1346C>A (p.Pro449His) | gnomAD v4 |
| 20 | g.63406934G>A | CA315318 | KCNQ2 | c.2383C>T (p.Pro795Ser) c.2329C>T (p.Pro777Ser) c.1726C>T (p.Pro576Ser) c.2236C>T (p.Pro746Ser) c.1897C>T (p.Pro633Ser) c.2245C>T (p.Pro749Ser) c.2241+112C>T (n.2241+112C>T) c.2205+112C>T (n.2205+112C>T) c.2275C>T (p.Pro759Ser) c.2133+112C>T (n.2133+112C>T) c.1680-6091C>T (n.1680-6091C>T) c.2371C>T (p.Pro791Ser) c.2437C>T (p.Pro813Ser) c.2434C>T (p.Pro812Ser) c.2407C>T (p.Pro803Ser) c.2353C>T (p.Pro785Ser) c.2326C>T (p.Pro776Ser) c.2311C>T (p.Pro771Ser) c.1918C>T (p.Pro640Ser) c.2380C>T (p.Pro794Ser) c.2317C>T (p.Pro773Ser) c.2314C>T (p.Pro772Ser) c.2272C>T (p.Pro758Ser) c.1345C>T (p.Pro449Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63406934G>C | CA409637731 | KCNQ2 | c.2383C>G (p.Pro795Ala) c.2329C>G (p.Pro777Ala) c.1726C>G (p.Pro576Ala) c.2236C>G (p.Pro746Ala) c.1897C>G (p.Pro633Ala) c.2245C>G (p.Pro749Ala) c.2241+112C>G (n.2241+112C>G) c.2205+112C>G (n.2205+112C>G) c.2275C>G (p.Pro759Ala) c.2133+112C>G (n.2133+112C>G) c.1680-6091C>G (n.1680-6091C>G) c.2371C>G (p.Pro791Ala) c.2437C>G (p.Pro813Ala) c.2434C>G (p.Pro812Ala) c.2407C>G (p.Pro803Ala) c.2353C>G (p.Pro785Ala) c.2326C>G (p.Pro776Ala) c.2311C>G (p.Pro771Ala) c.1918C>G (p.Pro640Ala) c.2380C>G (p.Pro794Ala) c.2317C>G (p.Pro773Ala) c.2314C>G (p.Pro772Ala) c.2272C>G (p.Pro758Ala) c.1345C>G (p.Pro449Ala) | |
| 20 | g.63406934G= | CA2374774316 | KCNQ2 | c.2383C= (p.Pro795=) c.2329C= (p.Pro777=) c.1726C= (p.Pro576=) c.2236C= (p.Pro746=) c.1897C= (p.Pro633=) c.2245C= (p.Pro749=) c.2241+112C= (n.2241+112C=) c.2205+112C= (n.2205+112C=) c.2275C= (p.Pro759=) c.2133+112C= (n.2133+112C=) c.1680-6091C= (n.1680-6091C=) c.2371C= (p.Pro791=) c.2437C= (p.Pro813=) c.2434C= (p.Pro812=) c.2407C= (p.Pro803=) c.2353C= (p.Pro785=) c.2326C= (p.Pro776=) c.2311C= (p.Pro771=) c.1918C= (p.Pro640=) c.2380C= (p.Pro794=) c.2317C= (p.Pro773=) c.2314C= (p.Pro772=) c.2272C= (p.Pro758=) c.1345C= (p.Pro449=) | |
| 20 | g.63406934G>T | CA409637734 | KCNQ2 | c.2383C>A (p.Pro795Thr) c.2329C>A (p.Pro777Thr) c.1726C>A (p.Pro576Thr) c.2236C>A (p.Pro746Thr) c.1897C>A (p.Pro633Thr) c.2245C>A (p.Pro749Thr) c.2241+112C>A (n.2241+112C>A) c.2205+112C>A (n.2205+112C>A) c.2275C>A (p.Pro759Thr) c.2133+112C>A (n.2133+112C>A) c.1680-6091C>A (n.1680-6091C>A) c.2371C>A (p.Pro791Thr) c.2437C>A (p.Pro813Thr) c.2434C>A (p.Pro812Thr) c.2407C>A (p.Pro803Thr) c.2353C>A (p.Pro785Thr) c.2326C>A (p.Pro776Thr) c.2311C>A (p.Pro771Thr) c.1918C>A (p.Pro640Thr) c.2380C>A (p.Pro794Thr) c.2317C>A (p.Pro773Thr) c.2314C>A (p.Pro772Thr) c.2272C>A (p.Pro758Thr) c.1345C>A (p.Pro449Thr) | |
| 20 | g.63406935G>A | CA511339300 | KCNQ2 | c.2382C>T (p.Pro794=) c.2328C>T (p.Pro776=) c.1725C>T (p.Pro575=) c.2235C>T (p.Pro745=) c.1896C>T (p.Pro632=) c.2244C>T (p.Pro748=) c.2241+111C>T (n.2241+111C>T) c.2205+111C>T (n.2205+111C>T) c.2274C>T (p.Pro758=) c.2133+111C>T (n.2133+111C>T) c.1680-6092C>T (n.1680-6092C>T) c.2370C>T (p.Pro790=) c.2436C>T (p.Pro812=) c.2433C>T (p.Pro811=) c.2406C>T (p.Pro802=) c.2352C>T (p.Pro784=) c.2325C>T (p.Pro775=) c.2310C>T (p.Pro770=) c.1917C>T (p.Pro639=) c.2379C>T (p.Pro793=) c.2316C>T (p.Pro772=) c.2313C>T (p.Pro771=) c.2271C>T (p.Pro757=) c.1344C>T (p.Pro448=) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63406935G>C | CA511339301 | KCNQ2 | c.2382C>G (p.Pro794=) c.2328C>G (p.Pro776=) c.1725C>G (p.Pro575=) c.2235C>G (p.Pro745=) c.1896C>G (p.Pro632=) c.2244C>G (p.Pro748=) c.2241+111C>G (n.2241+111C>G) c.2205+111C>G (n.2205+111C>G) c.2274C>G (p.Pro758=) c.2133+111C>G (n.2133+111C>G) c.1680-6092C>G (n.1680-6092C>G) c.2370C>G (p.Pro790=) c.2436C>G (p.Pro812=) c.2433C>G (p.Pro811=) c.2406C>G (p.Pro802=) c.2352C>G (p.Pro784=) c.2325C>G (p.Pro775=) c.2310C>G (p.Pro770=) c.1917C>G (p.Pro639=) c.2379C>G (p.Pro793=) c.2316C>G (p.Pro772=) c.2313C>G (p.Pro771=) c.2271C>G (p.Pro757=) c.1344C>G (p.Pro448=) |