UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.7827331G>A | CA338148900 | PER3 | c.2402G>A (p.Ser801Asn) c.2378G>A (p.Ser793Asn) c.2381G>A (p.Ser794Asn) c.1445G>A (p.Ser482Asn) c.2399G>A (p.Ser800Asn) c.1877G>A (p.Ser626Asn) c.2234G>A (p.Ser745Asn) c.2054G>A (p.Ser685Asn) c.2039G>A (p.Ser680Asn) c.2033G>A (p.Ser678Asn) c.1010G>A (p.Ser337Asn) c.1856G>A (p.Ser619Asn) | |
| 1 | g.7827331G>C | CA338148901 | PER3 | c.2402G>C (p.Ser801Thr) c.2378G>C (p.Ser793Thr) c.2381G>C (p.Ser794Thr) c.1445G>C (p.Ser482Thr) c.2399G>C (p.Ser800Thr) c.1877G>C (p.Ser626Thr) c.2234G>C (p.Ser745Thr) c.2054G>C (p.Ser685Thr) c.2039G>C (p.Ser680Thr) c.2033G>C (p.Ser678Thr) c.1010G>C (p.Ser337Thr) c.1856G>C (p.Ser619Thr) | |
| 1 | g.7827331G>T | CA338148899 | PER3 | c.2402G>T (p.Ser801Ile) c.2378G>T (p.Ser793Ile) c.2381G>T (p.Ser794Ile) c.1445G>T (p.Ser482Ile) c.2399G>T (p.Ser800Ile) c.1877G>T (p.Ser626Ile) c.2234G>T (p.Ser745Ile) c.2054G>T (p.Ser685Ile) c.2039G>T (p.Ser680Ile) c.2033G>T (p.Ser678Ile) c.1010G>T (p.Ser337Ile) c.1856G>T (p.Ser619Ile) | gnomAD v4 |
| 1 | g.7827332C>A | CA338148902 | PER3 | c.2403C>A (p.Ser801Arg) c.2379C>A (p.Ser793Arg) c.2382C>A (p.Ser794Arg) c.1446C>A (p.Ser482Arg) c.2400C>A (p.Ser800Arg) c.1878C>A (p.Ser626Arg) c.2235C>A (p.Ser745Arg) c.2055C>A (p.Ser685Arg) c.2040C>A (p.Ser680Arg) c.2034C>A (p.Ser678Arg) c.1011C>A (p.Ser337Arg) c.1857C>A (p.Ser619Arg) | |
| 1 | g.7827332C>G | CA338148903 | PER3 | c.2403C>G (p.Ser801Arg) c.2379C>G (p.Ser793Arg) c.2382C>G (p.Ser794Arg) c.1446C>G (p.Ser482Arg) c.2400C>G (p.Ser800Arg) c.1878C>G (p.Ser626Arg) c.2235C>G (p.Ser745Arg) c.2055C>G (p.Ser685Arg) c.2040C>G (p.Ser680Arg) c.2034C>G (p.Ser678Arg) c.1011C>G (p.Ser337Arg) c.1857C>G (p.Ser619Arg) | gnomAD v4 |
| 1 | g.7827332C>T | CA416028062 | PER3 | c.2403C>T (p.Ser801=) c.2379C>T (p.Ser793=) c.2382C>T (p.Ser794=) c.1446C>T (p.Ser482=) c.2400C>T (p.Ser800=) c.1878C>T (p.Ser626=) c.2235C>T (p.Ser745=) c.2055C>T (p.Ser685=) c.2040C>T (p.Ser680=) c.2034C>T (p.Ser678=) c.1011C>T (p.Ser337=) c.1857C>T (p.Ser619=) | |
| 1 | g.7827333C>A | CA338148904 | PER3 | c.2404C>A (p.Gln802Lys) c.2380C>A (p.Gln794Lys) c.2383C>A (p.Gln795Lys) c.1447C>A (p.Gln483Lys) c.2401C>A (p.Gln801Lys) c.1879C>A (p.Gln627Lys) c.2236C>A (p.Gln746Lys) c.2056C>A (p.Gln686Lys) c.2041C>A (p.Gln681Lys) c.2035C>A (p.Gln679Lys) c.1012C>A (p.Gln338Lys) c.1858C>A (p.Gln620Lys) | |
| 1 | g.7827333C>G | CA338148905 | PER3 | c.2404C>G (p.Gln802Glu) c.2380C>G (p.Gln794Glu) c.2383C>G (p.Gln795Glu) c.1447C>G (p.Gln483Glu) c.2401C>G (p.Gln801Glu) c.1879C>G (p.Gln627Glu) c.2236C>G (p.Gln746Glu) c.2056C>G (p.Gln686Glu) c.2041C>G (p.Gln681Glu) c.2035C>G (p.Gln679Glu) c.1012C>G (p.Gln338Glu) c.1858C>G (p.Gln620Glu) | |
| 1 | g.7827333C>T | CA338148906 | PER3 | c.2404C>T (p.Gln802Ter) c.2380C>T (p.Gln794Ter) c.2383C>T (p.Gln795Ter) c.1447C>T (p.Gln483Ter) c.2401C>T (p.Gln801Ter) c.1879C>T (p.Gln627Ter) c.2236C>T (p.Gln746Ter) c.2056C>T (p.Gln686Ter) c.2041C>T (p.Gln681Ter) c.2035C>T (p.Gln679Ter) c.1012C>T (p.Gln338Ter) c.1858C>T (p.Gln620Ter) | |
| 1 | g.7827334A>C | CA338148907 | PER3 | c.2405A>C (p.Gln802Pro) c.2381A>C (p.Gln794Pro) c.2384A>C (p.Gln795Pro) c.1448A>C (p.Gln483Pro) c.2402A>C (p.Gln801Pro) c.1880A>C (p.Gln627Pro) c.2237A>C (p.Gln746Pro) c.2057A>C (p.Gln686Pro) c.2042A>C (p.Gln681Pro) c.2036A>C (p.Gln679Pro) c.1013A>C (p.Gln338Pro) c.1859A>C (p.Gln620Pro) | |
| 1 | g.7827334A>G | CA338148908 | PER3 | c.2405A>G (p.Gln802Arg) c.2381A>G (p.Gln794Arg) c.2384A>G (p.Gln795Arg) c.1448A>G (p.Gln483Arg) c.2402A>G (p.Gln801Arg) c.1880A>G (p.Gln627Arg) c.2237A>G (p.Gln746Arg) c.2057A>G (p.Gln686Arg) c.2042A>G (p.Gln681Arg) c.2036A>G (p.Gln679Arg) c.1013A>G (p.Gln338Arg) c.1859A>G (p.Gln620Arg) | gnomAD v4 COSMIC |
| 1 | g.7827334A>T | CA338148909 | PER3 | c.2405A>T (p.Gln802Leu) c.2381A>T (p.Gln794Leu) c.2384A>T (p.Gln795Leu) c.1448A>T (p.Gln483Leu) c.2402A>T (p.Gln801Leu) c.1880A>T (p.Gln627Leu) c.2237A>T (p.Gln746Leu) c.2057A>T (p.Gln686Leu) c.2042A>T (p.Gln681Leu) c.2036A>T (p.Gln679Leu) c.1013A>T (p.Gln338Leu) c.1859A>T (p.Gln620Leu) | |
| 1 | g.7827335G>A | CA416028064 | PER3 | c.2406G>A (p.Gln802=) c.2382G>A (p.Gln794=) c.2385G>A (p.Gln795=) c.1449G>A (p.Gln483=) c.2403G>A (p.Gln801=) c.1881G>A (p.Gln627=) c.2238G>A (p.Gln746=) c.2058G>A (p.Gln686=) c.2043G>A (p.Gln681=) c.2037G>A (p.Gln679=) c.1014G>A (p.Gln338=) c.1860G>A (p.Gln620=) | |
| 1 | g.7827335G>C | CA338148910 | PER3 | c.2406G>C (p.Gln802His) c.2382G>C (p.Gln794His) c.2385G>C (p.Gln795His) c.1449G>C (p.Gln483His) c.2403G>C (p.Gln801His) c.1881G>C (p.Gln627His) c.2238G>C (p.Gln746His) c.2058G>C (p.Gln686His) c.2043G>C (p.Gln681His) c.2037G>C (p.Gln679His) c.1014G>C (p.Gln338His) c.1860G>C (p.Gln620His) | |
| 1 | g.7827335G>T | CA338148911 | PER3 | c.2406G>T (p.Gln802His) c.2382G>T (p.Gln794His) c.2385G>T (p.Gln795His) c.1449G>T (p.Gln483His) c.2403G>T (p.Gln801His) c.1881G>T (p.Gln627His) c.2238G>T (p.Gln746His) c.2058G>T (p.Gln686His) c.2043G>T (p.Gln681His) c.2037G>T (p.Gln679His) c.1014G>T (p.Gln338His) c.1860G>T (p.Gln620His) | COSMIC |
| 1 | g.7827336del | CA2643045309 | PER3 | c.2407del (p.Ala803ProfsTer?) c.2383del (p.Ala795ProfsTer?) c.2386del (p.Ala796ProfsTer?) c.1450del (p.Ala484ProfsTer?) c.2404del (p.Ala802ProfsTer?) c.1882del (p.Ala628ProfsTer?) c.2239del (p.Ala747ProfsTer?) c.2059del (p.Ala687ProfsTer?) c.2044del (p.Ala682ProfsTer?) c.2038del (p.Ala680ProfsTer?) c.1015del (p.Ala339ProfsTer?) c.1861del (p.Ala621ProfsTer?) | gnomAD v4 |
| 1 | g.7827336G>A | CA338148912 | PER3 | c.2407G>A (p.Ala803Thr) c.2383G>A (p.Ala795Thr) c.2386G>A (p.Ala796Thr) c.1450G>A (p.Ala484Thr) c.2404G>A (p.Ala802Thr) c.1882G>A (p.Ala628Thr) c.2239G>A (p.Ala747Thr) c.2059G>A (p.Ala687Thr) c.2044G>A (p.Ala682Thr) c.2038G>A (p.Ala680Thr) c.1015G>A (p.Ala339Thr) c.1861G>A (p.Ala621Thr) | |
| 1 | g.7827336G>C | CA338148913 | PER3 | c.2407G>C (p.Ala803Pro) c.2383G>C (p.Ala795Pro) c.2386G>C (p.Ala796Pro) c.1450G>C (p.Ala484Pro) c.2404G>C (p.Ala802Pro) c.1882G>C (p.Ala628Pro) c.2239G>C (p.Ala747Pro) c.2059G>C (p.Ala687Pro) c.2044G>C (p.Ala682Pro) c.2038G>C (p.Ala680Pro) c.1015G>C (p.Ala339Pro) c.1861G>C (p.Ala621Pro) | |
| 1 | g.7827336G>T | CA338148914 | PER3 | c.2407G>T (p.Ala803Ser) c.2383G>T (p.Ala795Ser) c.2386G>T (p.Ala796Ser) c.1450G>T (p.Ala484Ser) c.2404G>T (p.Ala802Ser) c.1882G>T (p.Ala628Ser) c.2239G>T (p.Ala747Ser) c.2059G>T (p.Ala687Ser) c.2044G>T (p.Ala682Ser) c.2038G>T (p.Ala680Ser) c.1015G>T (p.Ala339Ser) c.1861G>T (p.Ala621Ser) | |
| 1 | g.7827337C>A | CA338148917 | PER3 | c.2408C>A (p.Ala803Asp) c.2384C>A (p.Ala795Asp) c.2387C>A (p.Ala796Asp) c.1451C>A (p.Ala484Asp) c.2405C>A (p.Ala802Asp) c.1883C>A (p.Ala628Asp) c.2240C>A (p.Ala747Asp) c.2060C>A (p.Ala687Asp) c.2045C>A (p.Ala682Asp) c.2039C>A (p.Ala680Asp) c.1016C>A (p.Ala339Asp) c.1862C>A (p.Ala621Asp) | |
| 1 | g.7827337C= | CA1152110571 | PER3 | c.2408C= (p.Ala803=) c.2384C= (p.Ala795=) c.2387C= (p.Ala796=) c.1451C= (p.Ala484=) c.2405C= (p.Ala802=) c.1883C= (p.Ala628=) c.2240C= (p.Ala747=) c.2060C= (p.Ala687=) c.2045C= (p.Ala682=) c.2039C= (p.Ala680=) c.1016C= (p.Ala339=) c.1862C= (p.Ala621=) | |
| 1 | g.7827337C>G | CA338148916 | PER3 | c.2408C>G (p.Ala803Gly) c.2384C>G (p.Ala795Gly) c.2387C>G (p.Ala796Gly) c.1451C>G (p.Ala484Gly) c.2405C>G (p.Ala802Gly) c.1883C>G (p.Ala628Gly) c.2240C>G (p.Ala747Gly) c.2060C>G (p.Ala687Gly) c.2045C>G (p.Ala682Gly) c.2039C>G (p.Ala680Gly) c.1016C>G (p.Ala339Gly) c.1862C>G (p.Ala621Gly) | dbSNP |
| 1 | g.7827337C>T | CA338148915 | PER3 | c.2408C>T (p.Ala803Val) c.2384C>T (p.Ala795Val) c.2387C>T (p.Ala796Val) c.1451C>T (p.Ala484Val) c.2405C>T (p.Ala802Val) c.1883C>T (p.Ala628Val) c.2240C>T (p.Ala747Val) c.2060C>T (p.Ala687Val) c.2045C>T (p.Ala682Val) c.2039C>T (p.Ala680Val) c.1016C>T (p.Ala339Val) c.1862C>T (p.Ala621Val) | gnomAD v4 |
| 1 | g.7827338C>A | CA416028068 | PER3 | c.2409C>A (p.Ala803=) c.2385C>A (p.Ala795=) c.2388C>A (p.Ala796=) c.1452C>A (p.Ala484=) c.2406C>A (p.Ala802=) c.1884C>A (p.Ala628=) c.2241C>A (p.Ala747=) c.2061C>A (p.Ala687=) c.2046C>A (p.Ala682=) c.2040C>A (p.Ala680=) c.1017C>A (p.Ala339=) c.1863C>A (p.Ala621=) | |
| 1 | g.7827338C>G | CA416028069 | PER3 | c.2409C>G (p.Ala803=) c.2385C>G (p.Ala795=) c.2388C>G (p.Ala796=) c.1452C>G (p.Ala484=) c.2406C>G (p.Ala802=) c.1884C>G (p.Ala628=) c.2241C>G (p.Ala747=) c.2061C>G (p.Ala687=) c.2046C>G (p.Ala682=) c.2040C>G (p.Ala680=) c.1017C>G (p.Ala339=) c.1863C>G (p.Ala621=) | |
| 1 | g.7827338C>T | CA416028070 | PER3 | c.2409C>T (p.Ala803=) c.2385C>T (p.Ala795=) c.2388C>T (p.Ala796=) c.1452C>T (p.Ala484=) c.2406C>T (p.Ala802=) c.1884C>T (p.Ala628=) c.2241C>T (p.Ala747=) c.2061C>T (p.Ala687=) c.2046C>T (p.Ala682=) c.2040C>T (p.Ala680=) c.1017C>T (p.Ala339=) c.1863C>T (p.Ala621=) | |
| 1 | g.7827339C>A | CA338148918 | PER3 | c.2410C>A (p.Pro804Thr) c.2386C>A (p.Pro796Thr) c.2389C>A (p.Pro797Thr) c.1453C>A (p.Pro485Thr) c.2407C>A (p.Pro803Thr) c.1885C>A (p.Pro629Thr) c.2242C>A (p.Pro748Thr) c.2062C>A (p.Pro688Thr) c.2047C>A (p.Pro683Thr) c.2041C>A (p.Pro681Thr) c.1018C>A (p.Pro340Thr) c.1864C>A (p.Pro622Thr) | dbSNP gnomAD v2 |
| 1 | g.7827339C= | CA1152110578 | PER3 | c.2410C= (p.Pro804=) c.2386C= (p.Pro796=) c.2389C= (p.Pro797=) c.1453C= (p.Pro485=) c.2407C= (p.Pro803=) c.1885C= (p.Pro629=) c.2242C= (p.Pro748=) c.2062C= (p.Pro688=) c.2047C= (p.Pro683=) c.2041C= (p.Pro681=) c.1018C= (p.Pro340=) c.1864C= (p.Pro622=) | |
| 1 | g.7827339C>G | CA338148919 | PER3 | c.2410C>G (p.Pro804Ala) c.2386C>G (p.Pro796Ala) c.2389C>G (p.Pro797Ala) c.1453C>G (p.Pro485Ala) c.2407C>G (p.Pro803Ala) c.1885C>G (p.Pro629Ala) c.2242C>G (p.Pro748Ala) c.2062C>G (p.Pro688Ala) c.2047C>G (p.Pro683Ala) c.2041C>G (p.Pro681Ala) c.1018C>G (p.Pro340Ala) c.1864C>G (p.Pro622Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7827339C>T | CA338148920 | PER3 | c.2410C>T (p.Pro804Ser) c.2386C>T (p.Pro796Ser) c.2389C>T (p.Pro797Ser) c.1453C>T (p.Pro485Ser) c.2407C>T (p.Pro803Ser) c.1885C>T (p.Pro629Ser) c.2242C>T (p.Pro748Ser) c.2062C>T (p.Pro688Ser) c.2047C>T (p.Pro683Ser) c.2041C>T (p.Pro681Ser) c.1018C>T (p.Pro340Ser) c.1864C>T (p.Pro622Ser) | |
| 1 | g.7827340C>A | CA338148921 | PER3 | c.2411C>A (p.Pro804His) c.2387C>A (p.Pro796His) c.2390C>A (p.Pro797His) c.1454C>A (p.Pro485His) c.2408C>A (p.Pro803His) c.1886C>A (p.Pro629His) c.2243C>A (p.Pro748His) c.2063C>A (p.Pro688His) c.2048C>A (p.Pro683His) c.2042C>A (p.Pro681His) c.1019C>A (p.Pro340His) c.1865C>A (p.Pro622His) | |
| 1 | g.7827340C= | CA1152110584 | PER3 | c.2411C= (p.Pro804=) c.2387C= (p.Pro796=) c.2390C= (p.Pro797=) c.1454C= (p.Pro485=) c.2408C= (p.Pro803=) c.1886C= (p.Pro629=) c.2243C= (p.Pro748=) c.2063C= (p.Pro688=) c.2048C= (p.Pro683=) c.2042C= (p.Pro681=) c.1019C= (p.Pro340=) c.1865C= (p.Pro622=) | |
| 1 | g.7827340C>G | CA338148922 | PER3 | c.2411C>G (p.Pro804Arg) c.2387C>G (p.Pro796Arg) c.2390C>G (p.Pro797Arg) c.1454C>G (p.Pro485Arg) c.2408C>G (p.Pro803Arg) c.1886C>G (p.Pro629Arg) c.2243C>G (p.Pro748Arg) c.2063C>G (p.Pro688Arg) c.2048C>G (p.Pro683Arg) c.2042C>G (p.Pro681Arg) c.1019C>G (p.Pro340Arg) c.1865C>G (p.Pro622Arg) | |
| 1 | g.7827340C>T | CA338148923 | PER3 | c.2411C>T (p.Pro804Leu) c.2387C>T (p.Pro796Leu) c.2390C>T (p.Pro797Leu) c.1454C>T (p.Pro485Leu) c.2408C>T (p.Pro803Leu) c.1886C>T (p.Pro629Leu) c.2243C>T (p.Pro748Leu) c.2063C>T (p.Pro688Leu) c.2048C>T (p.Pro683Leu) c.2042C>T (p.Pro681Leu) c.1019C>T (p.Pro340Leu) c.1865C>T (p.Pro622Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7827341T>A | CA416028072 | PER3 | c.2412T>A (p.Pro804=) c.2388T>A (p.Pro796=) c.2391T>A (p.Pro797=) c.1455T>A (p.Pro485=) c.2409T>A (p.Pro803=) c.1887T>A (p.Pro629=) c.2244T>A (p.Pro748=) c.2064T>A (p.Pro688=) c.2049T>A (p.Pro683=) c.2043T>A (p.Pro681=) c.1020T>A (p.Pro340=) c.1866T>A (p.Pro622=) | |
| 1 | g.7827341T>C | CA416028073 | PER3 | c.2412T>C (p.Pro804=) c.2388T>C (p.Pro796=) c.2391T>C (p.Pro797=) c.1455T>C (p.Pro485=) c.2409T>C (p.Pro803=) c.1887T>C (p.Pro629=) c.2244T>C (p.Pro748=) c.2064T>C (p.Pro688=) c.2049T>C (p.Pro683=) c.2043T>C (p.Pro681=) c.1020T>C (p.Pro340=) c.1866T>C (p.Pro622=) | |
| 1 | g.7827341T>G | CA416028074 | PER3 | c.2412T>G (p.Pro804=) c.2388T>G (p.Pro796=) c.2391T>G (p.Pro797=) c.1455T>G (p.Pro485=) c.2409T>G (p.Pro803=) c.1887T>G (p.Pro629=) c.2244T>G (p.Pro748=) c.2064T>G (p.Pro688=) c.2049T>G (p.Pro683=) c.2043T>G (p.Pro681=) c.1020T>G (p.Pro340=) c.1866T>G (p.Pro622=) | |
| 1 | g.7827342dup | CA521019870 | PER3 | c.2413dup (p.Tyr805LeufsTer?) c.2389dup (p.Tyr797LeufsTer?) c.2392dup (p.Tyr798LeufsTer?) c.1456dup (p.Tyr486LeufsTer?) c.2410dup (p.Tyr804LeufsTer?) c.1888dup (p.Tyr630LeufsTer?) c.2245dup (p.Tyr749LeufsTer?) c.2065dup (p.Tyr689LeufsTer?) c.2050dup (p.Tyr684LeufsTer?) c.2044dup (p.Tyr682LeufsTer?) c.1021dup (p.Tyr341LeufsTer?) c.1867dup (p.Tyr623LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7827342T>A | CA338148924 | PER3 | c.2413T>A (p.Tyr805Asn) c.2389T>A (p.Tyr797Asn) c.2392T>A (p.Tyr798Asn) c.1456T>A (p.Tyr486Asn) c.2410T>A (p.Tyr804Asn) c.1888T>A (p.Tyr630Asn) c.2245T>A (p.Tyr749Asn) c.2065T>A (p.Tyr689Asn) c.2050T>A (p.Tyr684Asn) c.2044T>A (p.Tyr682Asn) c.1021T>A (p.Tyr341Asn) c.1867T>A (p.Tyr623Asn) | |
| 1 | g.7827342T>C | CA338148925 | PER3 | c.2413T>C (p.Tyr805His) c.2389T>C (p.Tyr797His) c.2392T>C (p.Tyr798His) c.1456T>C (p.Tyr486His) c.2410T>C (p.Tyr804His) c.1888T>C (p.Tyr630His) c.2245T>C (p.Tyr749His) c.2065T>C (p.Tyr689His) c.2050T>C (p.Tyr684His) c.2044T>C (p.Tyr682His) c.1021T>C (p.Tyr341His) c.1867T>C (p.Tyr623His) | |
| 1 | g.7827342T>G | CA338148926 | PER3 | c.2413T>G (p.Tyr805Asp) c.2389T>G (p.Tyr797Asp) c.2392T>G (p.Tyr798Asp) c.1456T>G (p.Tyr486Asp) c.2410T>G (p.Tyr804Asp) c.1888T>G (p.Tyr630Asp) c.2245T>G (p.Tyr749Asp) c.2065T>G (p.Tyr689Asp) c.2050T>G (p.Tyr684Asp) c.2044T>G (p.Tyr682Asp) c.1021T>G (p.Tyr341Asp) c.1867T>G (p.Tyr623Asp) | |
| 1 | g.7827343A= | CA1152110610 | PER3 | c.2414A= (p.Tyr805=) c.2390A= (p.Tyr797=) c.2393A= (p.Tyr798=) c.1457A= (p.Tyr486=) c.2411A= (p.Tyr804=) c.1889A= (p.Tyr630=) c.2246A= (p.Tyr749=) c.2066A= (p.Tyr689=) c.2051A= (p.Tyr684=) c.2045A= (p.Tyr682=) c.1022A= (p.Tyr341=) c.1868A= (p.Tyr623=) | |
| 1 | g.7827343A>C | CA338148927 | PER3 | c.2414A>C (p.Tyr805Ser) c.2390A>C (p.Tyr797Ser) c.2393A>C (p.Tyr798Ser) c.1457A>C (p.Tyr486Ser) c.2411A>C (p.Tyr804Ser) c.1889A>C (p.Tyr630Ser) c.2246A>C (p.Tyr749Ser) c.2066A>C (p.Tyr689Ser) c.2051A>C (p.Tyr684Ser) c.2045A>C (p.Tyr682Ser) c.1022A>C (p.Tyr341Ser) c.1868A>C (p.Tyr623Ser) | |
| 1 | g.7827343A>G | CA338148928 | PER3 | c.2414A>G (p.Tyr805Cys) c.2390A>G (p.Tyr797Cys) c.2393A>G (p.Tyr798Cys) c.1457A>G (p.Tyr486Cys) c.2411A>G (p.Tyr804Cys) c.1889A>G (p.Tyr630Cys) c.2246A>G (p.Tyr749Cys) c.2066A>G (p.Tyr689Cys) c.2051A>G (p.Tyr684Cys) c.2045A>G (p.Tyr682Cys) c.1022A>G (p.Tyr341Cys) c.1868A>G (p.Tyr623Cys) | |
| 1 | g.7827343A>T | CA338148929 | PER3 | c.2414A>T (p.Tyr805Phe) c.2390A>T (p.Tyr797Phe) c.2393A>T (p.Tyr798Phe) c.1457A>T (p.Tyr486Phe) c.2411A>T (p.Tyr804Phe) c.1889A>T (p.Tyr630Phe) c.2246A>T (p.Tyr749Phe) c.2066A>T (p.Tyr689Phe) c.2051A>T (p.Tyr684Phe) c.2045A>T (p.Tyr682Phe) c.1022A>T (p.Tyr341Phe) c.1868A>T (p.Tyr623Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7827343dup | CA2643045310 | PER3 | c.2414dup (p.Tyr805Ter) c.2390dup (p.Tyr797Ter) c.2393dup (p.Tyr798Ter) c.1457dup (p.Tyr486Ter) c.2411dup (p.Tyr804Ter) c.1889dup (p.Tyr630Ter) c.2246dup (p.Tyr749Ter) c.2066dup (p.Tyr689Ter) c.2051dup (p.Tyr684Ter) c.2045dup (p.Tyr682Ter) c.1022dup (p.Tyr341Ter) c.1868dup (p.Tyr623Ter) | gnomAD v4 |
| 1 | g.7827344C>A | CA338148931 | PER3 | c.2415C>A (p.Tyr805Ter) c.2391C>A (p.Tyr797Ter) c.2394C>A (p.Tyr798Ter) c.1458C>A (p.Tyr486Ter) c.2412C>A (p.Tyr804Ter) c.1890C>A (p.Tyr630Ter) c.2247C>A (p.Tyr749Ter) c.2067C>A (p.Tyr689Ter) c.2052C>A (p.Tyr684Ter) c.2046C>A (p.Tyr682Ter) c.1023C>A (p.Tyr341Ter) c.1869C>A (p.Tyr623Ter) | |
| 1 | g.7827344C= | CA1140587350 | PER3 | c.2415C= (p.Tyr805=) c.2391C= (p.Tyr797=) c.2394C= (p.Tyr798=) c.1458C= (p.Tyr486=) c.2412C= (p.Tyr804=) c.1890C= (p.Tyr630=) c.2247C= (p.Tyr749=) c.2067C= (p.Tyr689=) c.2052C= (p.Tyr684=) c.2046C= (p.Tyr682=) c.1023C= (p.Tyr341=) c.1869C= (p.Tyr623=) | |
| 1 | g.7827344C>G | CA338148930 | PER3 | c.2415C>G (p.Tyr805Ter) c.2391C>G (p.Tyr797Ter) c.2394C>G (p.Tyr798Ter) c.1458C>G (p.Tyr486Ter) c.2412C>G (p.Tyr804Ter) c.1890C>G (p.Tyr630Ter) c.2247C>G (p.Tyr749Ter) c.2067C>G (p.Tyr689Ter) c.2052C>G (p.Tyr684Ter) c.2046C>G (p.Tyr682Ter) c.1023C>G (p.Tyr341Ter) c.1869C>G (p.Tyr623Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.7827344C>T | CA568400 | PER3 | c.2415C>T (p.Tyr805=) c.2391C>T (p.Tyr797=) c.2394C>T (p.Tyr798=) c.1458C>T (p.Tyr486=) c.2412C>T (p.Tyr804=) c.1890C>T (p.Tyr630=) c.2247C>T (p.Tyr749=) c.2067C>T (p.Tyr689=) c.2052C>T (p.Tyr684=) c.2046C>T (p.Tyr682=) c.1023C>T (p.Tyr341=) c.1869C>T (p.Tyr623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |