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.2115399dup | CA16043510 | PKD1 | c.2079dup (p.Pro694AlafsTer20) c.472+2093dup c.1010dup (n.1010dup) c.2133dup (p.Pro712AlafsTer20) c.2061dup (p.Pro688AlafsTer20) c.2007dup (p.Pro670AlafsTer20) c.1926dup (p.Pro643AlafsTer20) c.1869dup (p.Pro624AlafsTer20) n.2148dup | ClinVar dbSNP |
| 16 | g.2115399del | CA2575879150 | PKD1 | c.2079del (p.Ala696ArgfsTer?) c.472+2093del c.1010del (n.1010del) c.2133del (p.Ala714ArgfsTer?) c.2061del (p.Ala690ArgfsTer?) c.2007del (p.Ala672ArgfsTer?) c.1926del (p.Ala645ArgfsTer?) c.1869del (p.Ala626ArgfsTer?) n.2148del | ClinVar gnomAD v4 |
| 16 | g.2115399C>A | CA493049495 | PKD1 | c.2076G>T (p.Ala692=) c.472+2090G>T c.1007G>T (n.1007G>T) c.2130G>T (p.Ala710=) c.2058G>T (p.Ala686=) c.2004G>T (p.Ala668=) c.1923G>T (p.Ala641=) c.1866G>T (p.Ala622=) n.2145G>T | gnomAD v4 |
| 16 | g.2115399C= | CA2202050332 | PKD1 | c.2076G= (p.Ala692=) c.472+2090G= c.1007G= (n.1007G=) c.2130G= (p.Ala710=) c.2058G= (p.Ala686=) c.2004G= (p.Ala668=) c.1923G= (p.Ala641=) c.1866G= (p.Ala622=) n.2145G= | |
| 16 | g.2115399C>G | CA493049496 | PKD1 | c.2076G>C (p.Ala692=) c.472+2090G>C c.1007G>C (n.1007G>C) c.2130G>C (p.Ala710=) c.2058G>C (p.Ala686=) c.2004G>C (p.Ala668=) c.1923G>C (p.Ala641=) c.1866G>C (p.Ala622=) n.2145G>C | |
| 16 | g.2115399C>T | CA493049498 | PKD1 | c.2076G>A (p.Ala692=) c.472+2090G>A c.1007G>A (n.1007G>A) c.2130G>A (p.Ala710=) c.2058G>A (p.Ala686=) c.2004G>A (p.Ala668=) c.1923G>A (p.Ala641=) c.1866G>A (p.Ala622=) n.2145G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2115400G>A | CA7833293 | PKD1 | c.2075C>T (p.Ala692Val) c.472+2089C>T c.1006C>T (n.1006C>T) c.2129C>T (p.Ala710Val) c.2057C>T (p.Ala686Val) c.2003C>T (p.Ala668Val) c.1922C>T (p.Ala641Val) c.1865C>T (p.Ala622Val) n.2144C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2115400G>C | CA394389491 | PKD1 | c.2075C>G (p.Ala692Gly) c.472+2089C>G c.1006C>G (n.1006C>G) c.2129C>G (p.Ala710Gly) c.2057C>G (p.Ala686Gly) c.2003C>G (p.Ala668Gly) c.1922C>G (p.Ala641Gly) c.1865C>G (p.Ala622Gly) n.2144C>G | |
| 16 | g.2115400G= | CA2202050333 | PKD1 | c.2075C= (p.Ala692=) c.472+2089C= c.1006C= (n.1006C=) c.2129C= (p.Ala710=) c.2057C= (p.Ala686=) c.2003C= (p.Ala668=) c.1922C= (p.Ala641=) c.1865C= (p.Ala622=) n.2144C= | |
| 16 | g.2115400G>T | CA394389493 | PKD1 | c.2075C>A (p.Ala692Glu) c.472+2089C>A c.1006C>A (n.1006C>A) c.2129C>A (p.Ala710Glu) c.2057C>A (p.Ala686Glu) c.2003C>A (p.Ala668Glu) c.1922C>A (p.Ala641Glu) c.1865C>A (p.Ala622Glu) n.2144C>A | gnomAD v4 |
| 16 | g.2115401C>A | CA394389497 | PKD1 | c.2074G>T (p.Ala692Ser) c.472+2088G>T c.1005G>T (n.1005G>T) c.2128G>T (p.Ala710Ser) c.2056G>T (p.Ala686Ser) c.2002G>T (p.Ala668Ser) c.1921G>T (p.Ala641Ser) c.1864G>T (p.Ala622Ser) n.2143G>T | |
| 16 | g.2115401C= | CA2202050334 | PKD1 | c.2074G= (p.Ala692=) c.472+2088G= c.1005G= (n.1005G=) c.2128G= (p.Ala710=) c.2056G= (p.Ala686=) c.2002G= (p.Ala668=) c.1921G= (p.Ala641=) c.1864G= (p.Ala622=) n.2143G= | |
| 16 | g.2115401C>G | CA394389495 | PKD1 | c.2074G>C (p.Ala692Pro) c.472+2088G>C c.1005G>C (n.1005G>C) c.2128G>C (p.Ala710Pro) c.2056G>C (p.Ala686Pro) c.2002G>C (p.Ala668Pro) c.1921G>C (p.Ala641Pro) c.1864G>C (p.Ala622Pro) n.2143G>C | |
| 16 | g.2115401C>T | CA7833294 | PKD1 | c.2074G>A (p.Ala692Thr) c.472+2088G>A c.1005G>A (n.1005G>A) c.2128G>A (p.Ala710Thr) c.2056G>A (p.Ala686Thr) c.2002G>A (p.Ala668Thr) c.1921G>A (p.Ala641Thr) c.1864G>A (p.Ala622Thr) n.2143G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.2115402G>A | CA7833295 | PKD1 | c.2073C>T (p.Pro691=) c.472+2087C>T c.1004C>T (n.1004C>T) c.2127C>T (p.Pro709=) c.2055C>T (p.Pro685=) c.2001C>T (p.Pro667=) c.1920C>T (p.Pro640=) c.1863C>T (p.Pro621=) n.2142C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2115402G>C | CA493049513 | PKD1 | c.2073C>G (p.Pro691=) c.472+2087C>G c.1004C>G (n.1004C>G) c.2127C>G (p.Pro709=) c.2055C>G (p.Pro685=) c.2001C>G (p.Pro667=) c.1920C>G (p.Pro640=) c.1863C>G (p.Pro621=) n.2142C>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2115402G= | CA2202050335 | PKD1 | c.2073C= (p.Pro691=) c.472+2087C= c.1004C= (n.1004C=) c.2127C= (p.Pro709=) c.2055C= (p.Pro685=) c.2001C= (p.Pro667=) c.1920C= (p.Pro640=) c.1863C= (p.Pro621=) n.2142C= | |
| 16 | g.2115402G>T | CA493049515 | PKD1 | c.2073C>A (p.Pro691=) c.472+2087C>A c.1004C>A (n.1004C>A) c.2127C>A (p.Pro709=) c.2055C>A (p.Pro685=) c.2001C>A (p.Pro667=) c.1920C>A (p.Pro640=) c.1863C>A (p.Pro621=) n.2142C>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2115404del | CA2695222580 | PKD1 | c.2073del (p.Ala692ArgfsTer?) c.472+2087del c.1004del (n.1004del) c.2127del (p.Ala710ArgfsTer?) c.2055del (p.Ala686ArgfsTer?) c.2001del (p.Ala668ArgfsTer?) c.1920del (p.Ala641ArgfsTer?) c.1863del (p.Ala622ArgfsTer?) n.2142del | |
| 16 | g.2115403G>A | CA394389499 | PKD1 | c.2072C>T (p.Pro691Leu) c.472+2086C>T c.1003C>T (n.1003C>T) c.2126C>T (p.Pro709Leu) c.2054C>T (p.Pro685Leu) c.2000C>T (p.Pro667Leu) c.1919C>T (p.Pro640Leu) c.1862C>T (p.Pro621Leu) n.2141C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2115403G>C | CA394389500 | PKD1 | c.2072C>G (p.Pro691Arg) c.472+2086C>G c.1003C>G (n.1003C>G) c.2126C>G (p.Pro709Arg) c.2054C>G (p.Pro685Arg) c.2000C>G (p.Pro667Arg) c.1919C>G (p.Pro640Arg) c.1862C>G (p.Pro621Arg) n.2141C>G | |
| 16 | g.2115403G= | CA2202050336 | PKD1 | c.2072C= (p.Pro691=) c.472+2086C= c.1003C= (n.1003C=) c.2126C= (p.Pro709=) c.2054C= (p.Pro685=) c.2000C= (p.Pro667=) c.1919C= (p.Pro640=) c.1862C= (p.Pro621=) n.2141C= | |
| 16 | g.2115403G>T | CA394389502 | PKD1 | c.2072C>A (p.Pro691His) c.472+2086C>A c.1003C>A (n.1003C>A) c.2126C>A (p.Pro709His) c.2054C>A (p.Pro685His) c.2000C>A (p.Pro667His) c.1919C>A (p.Pro640His) c.1862C>A (p.Pro621His) n.2141C>A | gnomAD v4 |
| 16 | g.2115404G>A | CA394389503 | PKD1 | c.2071C>T (p.Pro691Ser) c.472+2085C>T c.1002C>T (n.1002C>T) c.2125C>T (p.Pro709Ser) c.2053C>T (p.Pro685Ser) c.1999C>T (p.Pro667Ser) c.1918C>T (p.Pro640Ser) c.1861C>T (p.Pro621Ser) n.2140C>T | gnomAD v4 |
| 16 | g.2115404G>C | CA276782992 | PKD1 | c.2071C>G (p.Pro691Ala) c.472+2085C>G c.1002C>G (n.1002C>G) c.2125C>G (p.Pro709Ala) c.2053C>G (p.Pro685Ala) c.1999C>G (p.Pro667Ala) c.1918C>G (p.Pro640Ala) c.1861C>G (p.Pro621Ala) n.2140C>G | dbSNP gnomAD v4 |
| 16 | g.2115404G= | CA2202050337 | PKD1 | c.2071C= (p.Pro691=) c.472+2085C= c.1002C= (n.1002C=) c.2125C= (p.Pro709=) c.2053C= (p.Pro685=) c.1999C= (p.Pro667=) c.1918C= (p.Pro640=) c.1861C= (p.Pro621=) n.2140C= | |
| 16 | g.2115404G>T | CA394389505 | PKD1 | c.2071C>A (p.Pro691Thr) c.472+2085C>A c.1002C>A (n.1002C>A) c.2125C>A (p.Pro709Thr) c.2053C>A (p.Pro685Thr) c.1999C>A (p.Pro667Thr) c.1918C>A (p.Pro640Thr) c.1861C>A (p.Pro621Thr) n.2140C>A | gnomAD v4 |
| 16 | g.2115405A>C | CA493049521 | PKD1 | c.2070T>G (p.Val690=) c.472+2084T>G c.1001T>G (n.1001T>G) c.2124T>G (p.Val708=) c.2052T>G (p.Val684=) c.1998T>G (p.Val666=) c.1917T>G (p.Val639=) c.1860T>G (p.Val620=) n.2139T>G | gnomAD v4 |
| 16 | g.2115405A>G | CA493049522 | PKD1 | c.2070T>C (p.Val690=) c.472+2084T>C c.1001T>C (n.1001T>C) c.2124T>C (p.Val708=) c.2052T>C (p.Val684=) c.1998T>C (p.Val666=) c.1917T>C (p.Val639=) c.1860T>C (p.Val620=) n.2139T>C | gnomAD v4 |
| 16 | g.2115405A>T | CA493049523 | PKD1 | c.2070T>A (p.Val690=) c.472+2084T>A c.1001T>A (n.1001T>A) c.2124T>A (p.Val708=) c.2052T>A (p.Val684=) c.1998T>A (p.Val666=) c.1917T>A (p.Val639=) c.1860T>A (p.Val620=) n.2139T>A | gnomAD v4 |
| 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 |