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 |
|---|---|---|---|---|---|
| 16 | g.2115406A>C | CA394389507 | PKD1 | c.2069T>G (p.Val690Gly) c.472+2083T>G c.1000T>G (n.1000T>G) c.2123T>G (p.Val708Gly) c.2051T>G (p.Val684Gly) c.1997T>G (p.Val666Gly) c.1916T>G (p.Val639Gly) c.1859T>G (p.Val620Gly) n.2138T>G | gnomAD v4 |
| 16 | g.2115406A>G | CA394389509 | PKD1 | c.2069T>C (p.Val690Ala) c.472+2083T>C c.1000T>C (n.1000T>C) c.2123T>C (p.Val708Ala) c.2051T>C (p.Val684Ala) c.1997T>C (p.Val666Ala) c.1916T>C (p.Val639Ala) c.1859T>C (p.Val620Ala) n.2138T>C | gnomAD v4 |
| 16 | g.2115406A>T | CA394389510 | PKD1 | c.2069T>A (p.Val690Asp) c.472+2083T>A c.1000T>A (n.1000T>A) c.2123T>A (p.Val708Asp) c.2051T>A (p.Val684Asp) c.1997T>A (p.Val666Asp) c.1916T>A (p.Val639Asp) c.1859T>A (p.Val620Asp) n.2138T>A | gnomAD v4 |
| 16 | g.2115407C>A | CA394389511 | PKD1 | c.2068G>T (p.Val690Phe) c.472+2082G>T c.999G>T (n.999G>T) c.2122G>T (p.Val708Phe) c.2050G>T (p.Val684Phe) c.1996G>T (p.Val666Phe) c.1915G>T (p.Val639Phe) c.1858G>T (p.Val620Phe) n.2137G>T | gnomAD v4 |
| 16 | g.2115407C= | CA2202050338 | PKD1 | c.2068G= (p.Val690=) c.472+2082G= c.999G= (n.999G=) c.2122G= (p.Val708=) c.2050G= (p.Val684=) c.1996G= (p.Val666=) c.1915G= (p.Val639=) c.1858G= (p.Val620=) n.2137G= | |
| 16 | g.2115407C>G | CA394389513 | PKD1 | c.2068G>C (p.Val690Leu) c.472+2082G>C c.999G>C (n.999G>C) c.2122G>C (p.Val708Leu) c.2050G>C (p.Val684Leu) c.1996G>C (p.Val666Leu) c.1915G>C (p.Val639Leu) c.1858G>C (p.Val620Leu) n.2137G>C | |
| 16 | g.2115407C>T | CA276782993 | PKD1 | c.2068G>A (p.Val690Ile) c.472+2082G>A c.999G>A (n.999G>A) c.2122G>A (p.Val708Ile) c.2050G>A (p.Val684Ile) c.1996G>A (p.Val666Ile) c.1915G>A (p.Val639Ile) c.1858G>A (p.Val620Ile) n.2137G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2115407_2115410delinsCGGA | CA2202050339 | PKD1 | c.2065_2068delinsTCCG (p.Ser689=) c.472+2079_472+2082delinsTCCG c.996_999delinsTCCG (n.996_999delinsTCCG) c.2119_2122delinsTCCG (p.Ser707=) c.2047_2050delinsTCCG (p.Ser683=) c.1993_1996delinsTCCG (p.Ser665=) c.1912_1915delinsTCCG (p.Ser638=) c.1855_1858delinsTCCG (p.Ser619=) n.2134_2137delinsTCCG | |
| 16 | g.2115408G>A | CA7833296 | PKD1 | c.2067C>T (p.Ser689=) c.472+2081C>T c.998C>T (n.998C>T) c.2121C>T (p.Ser707=) c.2049C>T (p.Ser683=) c.1995C>T (p.Ser665=) c.1914C>T (p.Ser638=) c.1857C>T (p.Ser619=) n.2136C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2115408G>C | CA493049533 | PKD1 | c.2067C>G (p.Ser689=) c.472+2081C>G c.998C>G (n.998C>G) c.2121C>G (p.Ser707=) c.2049C>G (p.Ser683=) c.1995C>G (p.Ser665=) c.1914C>G (p.Ser638=) c.1857C>G (p.Ser619=) n.2136C>G | gnomAD v4 |
| 16 | g.2115408G= | CA2202050340 | PKD1 | c.2067C= (p.Ser689=) c.472+2081C= c.998C= (n.998C=) c.2121C= (p.Ser707=) c.2049C= (p.Ser683=) c.1995C= (p.Ser665=) c.1914C= (p.Ser638=) c.1857C= (p.Ser619=) n.2136C= | |
| 16 | g.2115408G>T | CA493049532 | PKD1 | c.2067C>A (p.Ser689=) c.472+2081C>A c.998C>A (n.998C>A) c.2121C>A (p.Ser707=) c.2049C>A (p.Ser683=) c.1995C>A (p.Ser665=) c.1914C>A (p.Ser638=) c.1857C>A (p.Ser619=) n.2136C>A | gnomAD v4 |
| 16 | g.2115409_2115411del | CA620705837 | PKD1 | c.2065_2067del (p.Ser689del) c.472+2079_472+2081del c.996_998del (n.996_998del) c.2119_2121del (p.Ser707del) c.2047_2049del (p.Ser683del) c.1993_1995del (p.Ser665del) c.1912_1914del (p.Ser638del) c.1855_1857del (p.Ser619del) n.2134_2136del | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2115409G>A | CA394389520 | PKD1 | c.2066C>T (p.Ser689Phe) c.472+2080C>T c.997C>T (n.997C>T) c.2120C>T (p.Ser707Phe) c.2048C>T (p.Ser683Phe) c.1994C>T (p.Ser665Phe) c.1913C>T (p.Ser638Phe) c.1856C>T (p.Ser619Phe) n.2135C>T | gnomAD v4 |
| 16 | g.2115409G>C | CA394389517 | PKD1 | c.2066C>G (p.Ser689Cys) c.472+2080C>G c.997C>G (n.997C>G) c.2120C>G (p.Ser707Cys) c.2048C>G (p.Ser683Cys) c.1994C>G (p.Ser665Cys) c.1913C>G (p.Ser638Cys) c.1856C>G (p.Ser619Cys) n.2135C>G | dbSNP |
| 16 | g.2115409G= | CA2202050341 | PKD1 | c.2066C= (p.Ser689=) c.472+2080C= c.997C= (n.997C=) c.2120C= (p.Ser707=) c.2048C= (p.Ser683=) c.1994C= (p.Ser665=) c.1913C= (p.Ser638=) c.1856C= (p.Ser619=) n.2135C= | |
| 16 | g.2115409G>T | CA7833297 | PKD1 | c.2066C>A (p.Ser689Tyr) c.472+2080C>A c.997C>A (n.997C>A) c.2120C>A (p.Ser707Tyr) c.2048C>A (p.Ser683Tyr) c.1994C>A (p.Ser665Tyr) c.1913C>A (p.Ser638Tyr) c.1856C>A (p.Ser619Tyr) n.2135C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2115410del | CA2695222581 | PKD1 | c.2065del (p.Ser689ProfsTer?) c.472+2079del c.996del (n.996del) c.2119del (p.Ser707ProfsTer?) c.2047del (p.Ser683ProfsTer?) c.1993del (p.Ser665ProfsTer?) c.1912del (p.Ser638ProfsTer?) c.1855del (p.Ser619ProfsTer?) n.2134del | |
| 16 | g.2115410A>C | CA394389521 | PKD1 | c.2065T>G (p.Ser689Ala) c.472+2079T>G c.996T>G (n.996T>G) c.2119T>G (p.Ser707Ala) c.2047T>G (p.Ser683Ala) c.1993T>G (p.Ser665Ala) c.1912T>G (p.Ser638Ala) c.1855T>G (p.Ser619Ala) n.2134T>G | |
| 16 | g.2115410A>G | CA394389522 | PKD1 | c.2065T>C (p.Ser689Pro) c.472+2079T>C c.996T>C (n.996T>C) c.2119T>C (p.Ser707Pro) c.2047T>C (p.Ser683Pro) c.1993T>C (p.Ser665Pro) c.1912T>C (p.Ser638Pro) c.1855T>C (p.Ser619Pro) n.2134T>C | gnomAD v4 |
| 16 | g.2115410A>T | CA394389523 | PKD1 | c.2065T>A (p.Ser689Thr) c.472+2079T>A c.996T>A (n.996T>A) c.2119T>A (p.Ser707Thr) c.2047T>A (p.Ser683Thr) c.1993T>A (p.Ser665Thr) c.1912T>A (p.Ser638Thr) c.1855T>A (p.Ser619Thr) n.2134T>A | |
| 16 | g.2115411G>A | CA493049547 | PKD1 | c.2064C>T (p.Phe688=) c.472+2078C>T c.995C>T (n.995C>T) c.2118C>T (p.Phe706=) c.2046C>T (p.Phe682=) c.1992C>T (p.Phe664=) c.1911C>T (p.Phe637=) c.1854C>T (p.Phe618=) n.2133C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2115411G>C | CA394389524 | PKD1 | c.2064C>G (p.Phe688Leu) c.472+2078C>G c.995C>G (n.995C>G) c.2118C>G (p.Phe706Leu) c.2046C>G (p.Phe682Leu) c.1992C>G (p.Phe664Leu) c.1911C>G (p.Phe637Leu) c.1854C>G (p.Phe618Leu) n.2133C>G | |
| 16 | g.2115411G= | CA2202050342 | PKD1 | c.2064C= (p.Phe688=) c.472+2078C= c.995C= (n.995C=) c.2118C= (p.Phe706=) c.2046C= (p.Phe682=) c.1992C= (p.Phe664=) c.1911C= (p.Phe637=) c.1854C= (p.Phe618=) n.2133C= | |
| 16 | g.2115411G>T | CA394389526 | PKD1 | c.2064C>A (p.Phe688Leu) c.472+2078C>A c.995C>A (n.995C>A) c.2118C>A (p.Phe706Leu) c.2046C>A (p.Phe682Leu) c.1992C>A (p.Phe664Leu) c.1911C>A (p.Phe637Leu) c.1854C>A (p.Phe618Leu) n.2133C>A | gnomAD v4 |
| 16 | g.2115414_2115419del | CA2695222582 | PKD1 | c.2059_2064del (p.Leu687_Phe688del) c.472+2073_472+2078del c.990_995del (n.990_995del) c.2113_2118del (p.Leu705_Phe706del) c.2041_2046del (p.Leu681_Phe682del) c.1987_1992del (p.Leu663_Phe664del) c.1906_1911del (p.Leu636_Phe637del) c.1849_1854del (p.Leu617_Phe618del) n.2128_2133del | |
| 16 | g.2115412A>C | CA394389527 | PKD1 | c.2063T>G (p.Phe688Cys) c.472+2077T>G c.994T>G (n.994T>G) c.2117T>G (p.Phe706Cys) c.2045T>G (p.Phe682Cys) c.1991T>G (p.Phe664Cys) c.1910T>G (p.Phe637Cys) c.1853T>G (p.Phe618Cys) n.2132T>G | |
| 16 | g.2115412A>G | CA394389529 | PKD1 | c.2063T>C (p.Phe688Ser) c.472+2077T>C c.994T>C (n.994T>C) c.2117T>C (p.Phe706Ser) c.2045T>C (p.Phe682Ser) c.1991T>C (p.Phe664Ser) c.1910T>C (p.Phe637Ser) c.1853T>C (p.Phe618Ser) n.2132T>C | |
| 16 | g.2115412A>T | CA394389530 | PKD1 | c.2063T>A (p.Phe688Tyr) c.472+2077T>A c.994T>A (n.994T>A) c.2117T>A (p.Phe706Tyr) c.2045T>A (p.Phe682Tyr) c.1991T>A (p.Phe664Tyr) c.1910T>A (p.Phe637Tyr) c.1853T>A (p.Phe618Tyr) n.2132T>A | |
| 16 | g.2115413A>C | CA394389532 | PKD1 | c.2062T>G (p.Phe688Val) c.472+2076T>G c.993T>G (n.993T>G) c.2116T>G (p.Phe706Val) c.2044T>G (p.Phe682Val) c.1990T>G (p.Phe664Val) c.1909T>G (p.Phe637Val) c.1852T>G (p.Phe618Val) n.2131T>G | |
| 16 | g.2115413A>G | CA394389534 | PKD1 | c.2062T>C (p.Phe688Leu) c.472+2076T>C c.993T>C (n.993T>C) c.2116T>C (p.Phe706Leu) c.2044T>C (p.Phe682Leu) c.1990T>C (p.Phe664Leu) c.1909T>C (p.Phe637Leu) c.1852T>C (p.Phe618Leu) n.2131T>C | |
| 16 | g.2115413A>T | CA394389535 | PKD1 | c.2062T>A (p.Phe688Ile) c.472+2076T>A c.993T>A (n.993T>A) c.2116T>A (p.Phe706Ile) c.2044T>A (p.Phe682Ile) c.1990T>A (p.Phe664Ile) c.1909T>A (p.Phe637Ile) c.1852T>A (p.Phe618Ile) n.2131T>A | gnomAD v4 |
| 16 | g.2115414G>A | CA7833298 | PKD1 | c.2061C>T (p.Leu687=) c.472+2075C>T c.992C>T (n.992C>T) c.2115C>T (p.Leu705=) c.2043C>T (p.Leu681=) c.1989C>T (p.Leu663=) c.1908C>T (p.Leu636=) c.1851C>T (p.Leu617=) n.2130C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2115414G>C | CA493049554 | PKD1 | c.2061C>G (p.Leu687=) c.472+2075C>G c.992C>G (n.992C>G) c.2115C>G (p.Leu705=) c.2043C>G (p.Leu681=) c.1989C>G (p.Leu663=) c.1908C>G (p.Leu636=) c.1851C>G (p.Leu617=) n.2130C>G | |
| 16 | g.2115414G= | CA2202050343 | PKD1 | c.2061C= (p.Leu687=) c.472+2075C= c.992C= (n.992C=) c.2115C= (p.Leu705=) c.2043C= (p.Leu681=) c.1989C= (p.Leu663=) c.1908C= (p.Leu636=) c.1851C= (p.Leu617=) n.2130C= | |
| 16 | g.2115414G>T | CA493049552 | PKD1 | c.2061C>A (p.Leu687=) c.472+2075C>A c.992C>A (n.992C>A) c.2115C>A (p.Leu705=) c.2043C>A (p.Leu681=) c.1989C>A (p.Leu663=) c.1908C>A (p.Leu636=) c.1851C>A (p.Leu617=) n.2130C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2115416_2115418del | CA2580091017 | PKD1 | c.2059_2061del (p.Leu687del) c.472+2073_472+2075del c.990_992del (n.990_992del) c.2113_2115del (p.Leu705del) c.2041_2043del (p.Leu681del) c.1987_1989del (p.Leu663del) c.1906_1908del (p.Leu636del) c.1849_1851del (p.Leu617del) n.2128_2130del | ClinVar gnomAD v4 |
| 16 | g.2115415A>C | CA394389538 | PKD1 | c.2060T>G (p.Leu687Arg) c.472+2074T>G c.991T>G (n.991T>G) c.2114T>G (p.Leu705Arg) c.2042T>G (p.Leu681Arg) c.1988T>G (p.Leu663Arg) c.1907T>G (p.Leu636Arg) c.1850T>G (p.Leu617Arg) n.2129T>G | |
| 16 | g.2115415A>G | CA394389540 | PKD1 | c.2060T>C (p.Leu687Pro) c.472+2074T>C c.991T>C (n.991T>C) c.2114T>C (p.Leu705Pro) c.2042T>C (p.Leu681Pro) c.1988T>C (p.Leu663Pro) c.1907T>C (p.Leu636Pro) c.1850T>C (p.Leu617Pro) n.2129T>C | |
| 16 | g.2115415A>T | CA394389537 | PKD1 | c.2060T>A (p.Leu687His) c.472+2074T>A c.991T>A (n.991T>A) c.2114T>A (p.Leu705His) c.2042T>A (p.Leu681His) c.1988T>A (p.Leu663His) c.1907T>A (p.Leu636His) c.1850T>A (p.Leu617His) n.2129T>A | |
| 16 | g.2115416G>A | CA394389542 | PKD1 | c.2059C>T (p.Leu687Phe) c.472+2073C>T c.990C>T (n.990C>T) c.2113C>T (p.Leu705Phe) c.2041C>T (p.Leu681Phe) c.1987C>T (p.Leu663Phe) c.1906C>T (p.Leu636Phe) c.1849C>T (p.Leu617Phe) n.2128C>T | |
| 16 | g.2115416G>C | CA394389543 | PKD1 | c.2059C>G (p.Leu687Val) c.472+2073C>G c.990C>G (n.990C>G) c.2113C>G (p.Leu705Val) c.2041C>G (p.Leu681Val) c.1987C>G (p.Leu663Val) c.1906C>G (p.Leu636Val) c.1849C>G (p.Leu617Val) n.2128C>G | |
| 16 | g.2115416G>T | CA394389544 | PKD1 | c.2059C>A (p.Leu687Ile) c.472+2073C>A c.990C>A (n.990C>A) c.2113C>A (p.Leu705Ile) c.2041C>A (p.Leu681Ile) c.1987C>A (p.Leu663Ile) c.1906C>A (p.Leu636Ile) c.1849C>A (p.Leu617Ile) n.2128C>A | gnomAD v4 |
| 16 | g.2115417G>A | CA276782994 | PKD1 | c.2058C>T (p.Phe686=) c.472+2072C>T c.989C>T (n.989C>T) c.2112C>T (p.Phe704=) c.2040C>T (p.Phe680=) c.1986C>T (p.Phe662=) c.1905C>T (p.Phe635=) c.1848C>T (p.Phe616=) n.2127C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.2115417G>C | CA394389546 | PKD1 | c.2058C>G (p.Phe686Leu) c.472+2072C>G c.989C>G (n.989C>G) c.2112C>G (p.Phe704Leu) c.2040C>G (p.Phe680Leu) c.1986C>G (p.Phe662Leu) c.1905C>G (p.Phe635Leu) c.1848C>G (p.Phe616Leu) n.2127C>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2115417G= | CA2202050344 | PKD1 | c.2058C= (p.Phe686=) c.472+2072C= c.989C= (n.989C=) c.2112C= (p.Phe704=) c.2040C= (p.Phe680=) c.1986C= (p.Phe662=) c.1905C= (p.Phe635=) c.1848C= (p.Phe616=) n.2127C= | |
| 16 | g.2115417G>T | CA394389547 | PKD1 | c.2058C>A (p.Phe686Leu) c.472+2072C>A c.989C>A (n.989C>A) c.2112C>A (p.Phe704Leu) c.2040C>A (p.Phe680Leu) c.1986C>A (p.Phe662Leu) c.1905C>A (p.Phe635Leu) c.1848C>A (p.Phe616Leu) n.2127C>A | gnomAD v4 |
| 16 | g.2115418A>C | CA394389549 | PKD1 | c.2057T>G (p.Phe686Cys) c.472+2071T>G c.988T>G (n.988T>G) c.2111T>G (p.Phe704Cys) c.2039T>G (p.Phe680Cys) c.1985T>G (p.Phe662Cys) c.1904T>G (p.Phe635Cys) c.1847T>G (p.Phe616Cys) n.2126T>G | |
| 16 | g.2115418A>G | CA394389551 | PKD1 | c.2057T>C (p.Phe686Ser) c.472+2071T>C c.988T>C (n.988T>C) c.2111T>C (p.Phe704Ser) c.2039T>C (p.Phe680Ser) c.1985T>C (p.Phe662Ser) c.1904T>C (p.Phe635Ser) c.1847T>C (p.Phe616Ser) n.2126T>C | |
| 16 | g.2115418A>T | CA394389552 | PKD1 | c.2057T>A (p.Phe686Tyr) c.472+2071T>A c.988T>A (n.988T>A) c.2111T>A (p.Phe704Tyr) c.2039T>A (p.Phe680Tyr) c.1985T>A (p.Phe662Tyr) c.1904T>A (p.Phe635Tyr) c.1847T>A (p.Phe616Tyr) n.2126T>A |