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.3228953del | CA2695229232 | SLC4A11 | c.2079del (p.Leu694CysfsTer25) c.2010del (p.Leu671CysfsTer25) c.1950del (p.Leu651CysfsTer25) c.1965del (p.Leu656CysfsTer25) c.2127del (p.Leu710CysfsTer25) c.2208del (p.Leu737CysfsTer25) c.*227del (n.*227del) n.672del c.2448del (p.Leu817CysfsTer25) c.2022del (p.Leu675CysfsTer25) c.2046del (p.Leu683CysfsTer25) n.2177del c.2442del (p.Leu815CysfsTer25) n.2622del n.2602del c.2094del (p.Leu699CysfsTer25) n.2587del | |
| 20 | g.3228952C>A | CA408087065 | SLC4A11 | c.2078G>T (p.Gly693Val) c.2009G>T (p.Gly670Val) c.1949G>T (p.Gly650Val) c.1964G>T (p.Gly655Val) c.2126G>T (p.Gly709Val) c.2207G>T (p.Gly736Val) c.*226G>T (n.*226G>T) n.671G>T c.2447G>T (p.Gly816Val) c.2021G>T (p.Gly674Val) c.2045G>T (p.Gly682Val) n.2176G>T c.2441G>T (p.Gly814Val) n.2621G>T n.2601G>T c.2093G>T (p.Gly698Val) n.2586G>T | |
| 20 | g.3228952C= | CA2346475252 | SLC4A11 | c.2078G= (p.Gly693=) c.2009G= (p.Gly670=) c.1949G= (p.Gly650=) c.1964G= (p.Gly655=) c.2126G= (p.Gly709=) c.2207G= (p.Gly736=) c.*226G= (n.*226G=) n.671G= c.2447G= (p.Gly816=) c.2021G= (p.Gly674=) c.2045G= (p.Gly682=) n.2176G= c.2441G= (p.Gly814=) n.2621G= n.2601G= c.2093G= (p.Gly698=) n.2586G= | |
| 20 | g.3228952C>G | CA408087066 | SLC4A11 | c.2078G>C (p.Gly693Ala) c.2009G>C (p.Gly670Ala) c.1949G>C (p.Gly650Ala) c.1964G>C (p.Gly655Ala) c.2126G>C (p.Gly709Ala) c.2207G>C (p.Gly736Ala) c.*226G>C (n.*226G>C) n.671G>C c.2447G>C (p.Gly816Ala) c.2021G>C (p.Gly674Ala) c.2045G>C (p.Gly682Ala) n.2176G>C c.2441G>C (p.Gly814Ala) n.2621G>C n.2601G>C c.2093G>C (p.Gly698Ala) n.2586G>C | |
| 20 | g.3228952C>T | CA114924 | SLC4A11 | c.2078G>A (p.Gly693Glu) c.2009G>A (p.Gly670Glu) c.1949G>A (p.Gly650Glu) c.1964G>A (p.Gly655Glu) c.2126G>A (p.Gly709Glu) c.2207G>A (p.Gly736Glu) c.*226G>A (n.*226G>A) n.671G>A c.2447G>A (p.Gly816Glu) c.2021G>A (p.Gly674Glu) c.2045G>A (p.Gly682Glu) n.2176G>A c.2441G>A (p.Gly814Glu) n.2621G>A n.2601G>A c.2093G>A (p.Gly698Glu) n.2586G>A | ClinVar dbSNP |
| 20 | g.3228953C>A | CA408087069 | SLC4A11 | c.2077G>T (p.Gly693Trp) c.2008G>T (p.Gly670Trp) c.1948G>T (p.Gly650Trp) c.1963G>T (p.Gly655Trp) c.2125G>T (p.Gly709Trp) c.2206G>T (p.Gly736Trp) c.*225G>T (n.*225G>T) n.670G>T c.2446G>T (p.Gly816Trp) c.2020G>T (p.Gly674Trp) c.2044G>T (p.Gly682Trp) n.2175G>T c.2440G>T (p.Gly814Trp) n.2620G>T n.2600G>T c.2092G>T (p.Gly698Trp) n.2585G>T | |
| 20 | g.3228953C>G | CA408087068 | SLC4A11 | c.2077G>C (p.Gly693Arg) c.2008G>C (p.Gly670Arg) c.1948G>C (p.Gly650Arg) c.1963G>C (p.Gly655Arg) c.2125G>C (p.Gly709Arg) c.2206G>C (p.Gly736Arg) c.*225G>C (n.*225G>C) n.670G>C c.2446G>C (p.Gly816Arg) c.2020G>C (p.Gly674Arg) c.2044G>C (p.Gly682Arg) n.2175G>C c.2440G>C (p.Gly814Arg) n.2620G>C n.2600G>C c.2092G>C (p.Gly698Arg) n.2585G>C | |
| 20 | g.3228953C>T | CA408087067 | SLC4A11 | c.2077G>A (p.Gly693Arg) c.2008G>A (p.Gly670Arg) c.1948G>A (p.Gly650Arg) c.1963G>A (p.Gly655Arg) c.2125G>A (p.Gly709Arg) c.2206G>A (p.Gly736Arg) c.*225G>A (n.*225G>A) n.670G>A c.2446G>A (p.Gly816Arg) c.2020G>A (p.Gly674Arg) c.2044G>A (p.Gly682Arg) n.2175G>A c.2440G>A (p.Gly814Arg) n.2620G>A n.2600G>A c.2092G>A (p.Gly698Arg) n.2585G>A | |
| 20 | g.3228954T>A | CA509558299 | SLC4A11 | c.2076A>T (p.Thr692=) c.2007A>T (p.Thr669=) c.1947A>T (p.Thr649=) c.1962A>T (p.Thr654=) c.2124A>T (p.Thr708=) c.2205A>T (p.Thr735=) c.*224A>T (n.*224A>T) n.669A>T c.2445A>T (p.Thr815=) c.2019A>T (p.Thr673=) c.2043A>T (p.Thr681=) n.2174A>T c.2439A>T (p.Thr813=) n.2619A>T n.2599A>T c.2091A>T (p.Thr697=) n.2584A>T | |
| 20 | g.3228954T>C | CA509558300 | SLC4A11 | c.2076A>G (p.Thr692=) c.2007A>G (p.Thr669=) c.1947A>G (p.Thr649=) c.1962A>G (p.Thr654=) c.2124A>G (p.Thr708=) c.2205A>G (p.Thr735=) c.*224A>G (n.*224A>G) n.669A>G c.2445A>G (p.Thr815=) c.2019A>G (p.Thr673=) c.2043A>G (p.Thr681=) n.2174A>G c.2439A>G (p.Thr813=) n.2619A>G n.2599A>G c.2091A>G (p.Thr697=) n.2584A>G | |
| 20 | g.3228954T>G | CA509558301 | SLC4A11 | c.2076A>C (p.Thr692=) c.2007A>C (p.Thr669=) c.1947A>C (p.Thr649=) c.1962A>C (p.Thr654=) c.2124A>C (p.Thr708=) c.2205A>C (p.Thr735=) c.*224A>C (n.*224A>C) n.669A>C c.2445A>C (p.Thr815=) c.2019A>C (p.Thr673=) c.2043A>C (p.Thr681=) n.2174A>C c.2439A>C (p.Thr813=) n.2619A>C n.2599A>C c.2091A>C (p.Thr697=) n.2584A>C | |
| 20 | g.3228955G>A | CA408087070 | SLC4A11 | c.2075C>T (p.Thr692Ile) c.2006C>T (p.Thr669Ile) c.1946C>T (p.Thr649Ile) c.1961C>T (p.Thr654Ile) c.2123C>T (p.Thr708Ile) c.2204C>T (p.Thr735Ile) c.*223C>T (n.*223C>T) n.668C>T c.2444C>T (p.Thr815Ile) c.2018C>T (p.Thr673Ile) c.2042C>T (p.Thr681Ile) n.2173C>T c.2438C>T (p.Thr813Ile) n.2618C>T n.2598C>T c.2090C>T (p.Thr697Ile) n.2583C>T | |
| 20 | g.3228955G>C | CA408087072 | SLC4A11 | c.2075C>G (p.Thr692Arg) c.2006C>G (p.Thr669Arg) c.1946C>G (p.Thr649Arg) c.1961C>G (p.Thr654Arg) c.2123C>G (p.Thr708Arg) c.2204C>G (p.Thr735Arg) c.*223C>G (n.*223C>G) n.668C>G c.2444C>G (p.Thr815Arg) c.2018C>G (p.Thr673Arg) c.2042C>G (p.Thr681Arg) n.2173C>G c.2438C>G (p.Thr813Arg) n.2618C>G n.2598C>G c.2090C>G (p.Thr697Arg) n.2583C>G | |
| 20 | g.3228955G>T | CA408087071 | SLC4A11 | c.2075C>A (p.Thr692Lys) c.2006C>A (p.Thr669Lys) c.1946C>A (p.Thr649Lys) c.1961C>A (p.Thr654Lys) c.2123C>A (p.Thr708Lys) c.2204C>A (p.Thr735Lys) c.*223C>A (n.*223C>A) n.668C>A c.2444C>A (p.Thr815Lys) c.2018C>A (p.Thr673Lys) c.2042C>A (p.Thr681Lys) n.2173C>A c.2438C>A (p.Thr813Lys) n.2618C>A n.2598C>A c.2090C>A (p.Thr697Lys) n.2583C>A | |
| 20 | g.3228956T>A | CA408087073 | SLC4A11 | c.2074A>T (p.Thr692Ser) c.2005A>T (p.Thr669Ser) c.1945A>T (p.Thr649Ser) c.1960A>T (p.Thr654Ser) c.2122A>T (p.Thr708Ser) c.2203A>T (p.Thr735Ser) c.*222A>T (n.*222A>T) n.667A>T c.2443A>T (p.Thr815Ser) c.2017A>T (p.Thr673Ser) c.2041A>T (p.Thr681Ser) n.2172A>T c.2437A>T (p.Thr813Ser) n.2617A>T n.2597A>T c.2089A>T (p.Thr697Ser) n.2582A>T | |
| 20 | g.3228956T>C | CA408087074 | SLC4A11 | c.2074A>G (p.Thr692Ala) c.2005A>G (p.Thr669Ala) c.1945A>G (p.Thr649Ala) c.1960A>G (p.Thr654Ala) c.2122A>G (p.Thr708Ala) c.2203A>G (p.Thr735Ala) c.*222A>G (n.*222A>G) n.667A>G c.2443A>G (p.Thr815Ala) c.2017A>G (p.Thr673Ala) c.2041A>G (p.Thr681Ala) n.2172A>G c.2437A>G (p.Thr813Ala) n.2617A>G n.2597A>G c.2089A>G (p.Thr697Ala) n.2582A>G | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.3228956T>G | CA408087075 | SLC4A11 | c.2074A>C (p.Thr692Pro) c.2005A>C (p.Thr669Pro) c.1945A>C (p.Thr649Pro) c.1960A>C (p.Thr654Pro) c.2122A>C (p.Thr708Pro) c.2203A>C (p.Thr735Pro) c.*222A>C (n.*222A>C) n.667A>C c.2443A>C (p.Thr815Pro) c.2017A>C (p.Thr673Pro) c.2041A>C (p.Thr681Pro) n.2172A>C c.2437A>C (p.Thr813Pro) n.2617A>C n.2597A>C c.2089A>C (p.Thr697Pro) n.2582A>C | |
| 20 | g.3228956T= | CA2346475253 | SLC4A11 | c.2074A= (p.Thr692=) c.2005A= (p.Thr669=) c.1945A= (p.Thr649=) c.1960A= (p.Thr654=) c.2122A= (p.Thr708=) c.2203A= (p.Thr735=) c.*222A= (n.*222A=) n.667A= c.2443A= (p.Thr815=) c.2017A= (p.Thr673=) c.2041A= (p.Thr681=) n.2172A= c.2437A= (p.Thr813=) n.2617A= n.2597A= c.2089A= (p.Thr697=) n.2582A= | |
| 20 | g.3228957G>A | CA9741594 | SLC4A11 | c.2073C>T (p.Asn691=) c.2004C>T (p.Asn668=) c.1944C>T (p.Asn648=) c.1959C>T (p.Asn653=) c.2121C>T (p.Asn707=) c.2202C>T (p.Asn734=) c.*221C>T (n.*221C>T) n.666C>T c.2442C>T (p.Asn814=) c.2016C>T (p.Asn672=) c.2040C>T (p.Asn680=) n.2171C>T c.2436C>T (p.Asn812=) n.2616C>T n.2596C>T c.2088C>T (p.Asn696=) n.2581C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3228957G>C | CA408087076 | SLC4A11 | c.2073C>G (p.Asn691Lys) c.2004C>G (p.Asn668Lys) c.1944C>G (p.Asn648Lys) c.1959C>G (p.Asn653Lys) c.2121C>G (p.Asn707Lys) c.2202C>G (p.Asn734Lys) c.*221C>G (n.*221C>G) n.666C>G c.2442C>G (p.Asn814Lys) c.2016C>G (p.Asn672Lys) c.2040C>G (p.Asn680Lys) n.2171C>G c.2436C>G (p.Asn812Lys) n.2616C>G n.2596C>G c.2088C>G (p.Asn696Lys) n.2581C>G | |
| 20 | g.3228957G= | CA2346475254 | SLC4A11 | c.2073C= (p.Asn691=) c.2004C= (p.Asn668=) c.1944C= (p.Asn648=) c.1959C= (p.Asn653=) c.2121C= (p.Asn707=) c.2202C= (p.Asn734=) c.*221C= (n.*221C=) n.666C= c.2442C= (p.Asn814=) c.2016C= (p.Asn672=) c.2040C= (p.Asn680=) n.2171C= c.2436C= (p.Asn812=) n.2616C= n.2596C= c.2088C= (p.Asn696=) n.2581C= | |
| 20 | g.3228957G>T | CA408087077 | SLC4A11 | c.2073C>A (p.Asn691Lys) c.2004C>A (p.Asn668Lys) c.1944C>A (p.Asn648Lys) c.1959C>A (p.Asn653Lys) c.2121C>A (p.Asn707Lys) c.2202C>A (p.Asn734Lys) c.*221C>A (n.*221C>A) n.666C>A c.2442C>A (p.Asn814Lys) c.2016C>A (p.Asn672Lys) c.2040C>A (p.Asn680Lys) n.2171C>A c.2436C>A (p.Asn812Lys) n.2616C>A n.2596C>A c.2088C>A (p.Asn696Lys) n.2581C>A | |
| 20 | g.3228958T>A | CA408087078 | SLC4A11 | c.2072A>T (p.Asn691Ile) c.2003A>T (p.Asn668Ile) c.1943A>T (p.Asn648Ile) c.1958A>T (p.Asn653Ile) c.2120A>T (p.Asn707Ile) c.2201A>T (p.Asn734Ile) c.*220A>T (n.*220A>T) n.665A>T c.2441A>T (p.Asn814Ile) c.2015A>T (p.Asn672Ile) c.2039A>T (p.Asn680Ile) n.2170A>T c.2435A>T (p.Asn812Ile) n.2615A>T n.2595A>T c.2087A>T (p.Asn696Ile) n.2580A>T | |
| 20 | g.3228958T>C | CA408087079 | SLC4A11 | c.2072A>G (p.Asn691Ser) c.2003A>G (p.Asn668Ser) c.1943A>G (p.Asn648Ser) c.1958A>G (p.Asn653Ser) c.2120A>G (p.Asn707Ser) c.2201A>G (p.Asn734Ser) c.*220A>G (n.*220A>G) n.665A>G c.2441A>G (p.Asn814Ser) c.2015A>G (p.Asn672Ser) c.2039A>G (p.Asn680Ser) n.2170A>G c.2435A>G (p.Asn812Ser) n.2615A>G n.2595A>G c.2087A>G (p.Asn696Ser) n.2580A>G | COSMIC COSMIC |
| 20 | g.3228958T>G | CA408087080 | SLC4A11 | c.2072A>C (p.Asn691Thr) c.2003A>C (p.Asn668Thr) c.1943A>C (p.Asn648Thr) c.1958A>C (p.Asn653Thr) c.2120A>C (p.Asn707Thr) c.2201A>C (p.Asn734Thr) c.*220A>C (n.*220A>C) n.665A>C c.2441A>C (p.Asn814Thr) c.2015A>C (p.Asn672Thr) c.2039A>C (p.Asn680Thr) n.2170A>C c.2435A>C (p.Asn812Thr) n.2615A>C n.2595A>C c.2087A>C (p.Asn696Thr) n.2580A>C | |
| 20 | g.3228958_3228961delinsTTGA | CA2346475255 | SLC4A11 | c.2069_2072delinsTCAA (p.Ile690=) c.2000_2003delinsTCAA (p.Ile667=) c.1940_1943delinsTCAA (p.Ile647=) c.1955_1958delinsTCAA (p.Ile652=) c.2117_2120delinsTCAA (p.Ile706=) c.2198_2201delinsTCAA (p.Ile733=) c.*217_*220delinsTCAA (n.*217_*220delinsTCAA) n.662_665delinsTCAA c.2438_2441delinsTCAA (p.Ile813=) c.2012_2015delinsTCAA (p.Ile671=) c.2036_2039delinsTCAA (p.Ile679=) n.2167_2170delinsTCAA c.2432_2435delinsTCAA (p.Ile811=) n.2612_2615delinsTCAA n.2592_2595delinsTCAA c.2084_2087delinsTCAA (p.Ile695=) n.2577_2580delinsTCAA | |
| 20 | g.3228959T>A | CA408087081 | SLC4A11 | c.2071A>T (p.Asn691Tyr) c.2002A>T (p.Asn668Tyr) c.1942A>T (p.Asn648Tyr) c.1957A>T (p.Asn653Tyr) c.2119A>T (p.Asn707Tyr) c.2200A>T (p.Asn734Tyr) c.*219A>T (n.*219A>T) n.664A>T c.2440A>T (p.Asn814Tyr) c.2014A>T (p.Asn672Tyr) c.2038A>T (p.Asn680Tyr) n.2169A>T c.2434A>T (p.Asn812Tyr) n.2614A>T n.2594A>T c.2086A>T (p.Asn696Tyr) n.2579A>T | |
| 20 | g.3228959T>C | CA408087082 | SLC4A11 | c.2071A>G (p.Asn691Asp) c.2002A>G (p.Asn668Asp) c.1942A>G (p.Asn648Asp) c.1957A>G (p.Asn653Asp) c.2119A>G (p.Asn707Asp) c.2200A>G (p.Asn734Asp) c.*219A>G (n.*219A>G) n.664A>G c.2440A>G (p.Asn814Asp) c.2014A>G (p.Asn672Asp) c.2038A>G (p.Asn680Asp) n.2169A>G c.2434A>G (p.Asn812Asp) n.2614A>G n.2594A>G c.2086A>G (p.Asn696Asp) n.2579A>G | |
| 20 | g.3228959T>G | CA408087083 | SLC4A11 | c.2071A>C (p.Asn691His) c.2002A>C (p.Asn668His) c.1942A>C (p.Asn648His) c.1957A>C (p.Asn653His) c.2119A>C (p.Asn707His) c.2200A>C (p.Asn734His) c.*219A>C (n.*219A>C) n.664A>C c.2440A>C (p.Asn814His) c.2014A>C (p.Asn672His) c.2038A>C (p.Asn680His) n.2169A>C c.2434A>C (p.Asn812His) n.2614A>C n.2594A>C c.2086A>C (p.Asn696His) n.2579A>C | |
| 20 | g.3228964_3228966del | CA920153246 | SLC4A11 | c.2069_2071del (p.Ile690del) c.2000_2002del (p.Ile667del) c.1940_1942del (p.Ile647del) c.1955_1957del (p.Ile652del) c.2117_2119del (p.Ile706del) c.2198_2200del (p.Ile733del) c.*217_*219del (n.*217_*219del) n.662_664del c.2438_2440del (p.Ile813del) c.2012_2014del (p.Ile671del) c.2036_2038del (p.Ile679del) n.2167_2169del c.2432_2434del (p.Ile811del) n.2612_2614del n.2592_2594del c.2084_2086del (p.Ile695del) n.2577_2579del | dbSNP gnomAD v4 |
| 20 | g.3228960G>A | CA509558306 | SLC4A11 | c.2070C>T (p.Ile690=) c.2001C>T (p.Ile667=) c.1941C>T (p.Ile647=) c.1956C>T (p.Ile652=) c.2118C>T (p.Ile706=) c.2199C>T (p.Ile733=) c.*218C>T (n.*218C>T) n.663C>T c.2439C>T (p.Ile813=) c.2013C>T (p.Ile671=) c.2037C>T (p.Ile679=) n.2168C>T c.2433C>T (p.Ile811=) n.2613C>T n.2593C>T c.2085C>T (p.Ile695=) n.2578C>T | gnomAD v4 |
| 20 | g.3228960G>C | CA408087084 | SLC4A11 | c.2070C>G (p.Ile690Met) c.2001C>G (p.Ile667Met) c.1941C>G (p.Ile647Met) c.1956C>G (p.Ile652Met) c.2118C>G (p.Ile706Met) c.2199C>G (p.Ile733Met) c.*218C>G (n.*218C>G) n.663C>G c.2439C>G (p.Ile813Met) c.2013C>G (p.Ile671Met) c.2037C>G (p.Ile679Met) n.2168C>G c.2433C>G (p.Ile811Met) n.2613C>G n.2593C>G c.2085C>G (p.Ile695Met) n.2578C>G | |
| 20 | g.3228960G>T | CA509558305 | SLC4A11 | c.2070C>A (p.Ile690=) c.2001C>A (p.Ile667=) c.1941C>A (p.Ile647=) c.1956C>A (p.Ile652=) c.2118C>A (p.Ile706=) c.2199C>A (p.Ile733=) c.*218C>A (n.*218C>A) n.663C>A c.2439C>A (p.Ile813=) c.2013C>A (p.Ile671=) c.2037C>A (p.Ile679=) n.2168C>A c.2433C>A (p.Ile811=) n.2613C>A n.2593C>A c.2085C>A (p.Ile695=) n.2578C>A | |
| 20 | g.3228961A>C | CA408087087 | SLC4A11 | c.2069T>G (p.Ile690Ser) c.2000T>G (p.Ile667Ser) c.1940T>G (p.Ile647Ser) c.1955T>G (p.Ile652Ser) c.2117T>G (p.Ile706Ser) c.2198T>G (p.Ile733Ser) c.*217T>G (n.*217T>G) n.662T>G c.2438T>G (p.Ile813Ser) c.2012T>G (p.Ile671Ser) c.2036T>G (p.Ile679Ser) n.2167T>G c.2432T>G (p.Ile811Ser) n.2612T>G n.2592T>G c.2084T>G (p.Ile695Ser) n.2577T>G | |
| 20 | g.3228961A>G | CA408087086 | SLC4A11 | c.2069T>C (p.Ile690Thr) c.2000T>C (p.Ile667Thr) c.1940T>C (p.Ile647Thr) c.1955T>C (p.Ile652Thr) c.2117T>C (p.Ile706Thr) c.2198T>C (p.Ile733Thr) c.*217T>C (n.*217T>C) n.662T>C c.2438T>C (p.Ile813Thr) c.2012T>C (p.Ile671Thr) c.2036T>C (p.Ile679Thr) n.2167T>C c.2432T>C (p.Ile811Thr) n.2612T>C n.2592T>C c.2084T>C (p.Ile695Thr) n.2577T>C | |
| 20 | g.3228961A>T | CA408087085 | SLC4A11 | c.2069T>A (p.Ile690Asn) c.2000T>A (p.Ile667Asn) c.1940T>A (p.Ile647Asn) c.1955T>A (p.Ile652Asn) c.2117T>A (p.Ile706Asn) c.2198T>A (p.Ile733Asn) c.*217T>A (n.*217T>A) n.662T>A c.2438T>A (p.Ile813Asn) c.2012T>A (p.Ile671Asn) c.2036T>A (p.Ile679Asn) n.2167T>A c.2432T>A (p.Ile811Asn) n.2612T>A n.2592T>A c.2084T>A (p.Ile695Asn) n.2577T>A | |
| 20 | g.3228962T>A | CA408087088 | SLC4A11 | c.2068A>T (p.Ile690Phe) c.1999A>T (p.Ile667Phe) c.1939A>T (p.Ile647Phe) c.1954A>T (p.Ile652Phe) c.2116A>T (p.Ile706Phe) c.2197A>T (p.Ile733Phe) c.*216A>T (n.*216A>T) n.661A>T c.2437A>T (p.Ile813Phe) c.2011A>T (p.Ile671Phe) c.2035A>T (p.Ile679Phe) n.2166A>T c.2431A>T (p.Ile811Phe) n.2611A>T n.2591A>T c.2083A>T (p.Ile695Phe) n.2576A>T | |
| 20 | g.3228962T>C | CA408087089 | SLC4A11 | c.2068A>G (p.Ile690Val) c.1999A>G (p.Ile667Val) c.1939A>G (p.Ile647Val) c.1954A>G (p.Ile652Val) c.2116A>G (p.Ile706Val) c.2197A>G (p.Ile733Val) c.*216A>G (n.*216A>G) n.661A>G c.2437A>G (p.Ile813Val) c.2011A>G (p.Ile671Val) c.2035A>G (p.Ile679Val) n.2166A>G c.2431A>G (p.Ile811Val) n.2611A>G n.2591A>G c.2083A>G (p.Ile695Val) n.2576A>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.3228962T>G | CA408087090 | SLC4A11 | c.2068A>C (p.Ile690Leu) c.1999A>C (p.Ile667Leu) c.1939A>C (p.Ile647Leu) c.1954A>C (p.Ile652Leu) c.2116A>C (p.Ile706Leu) c.2197A>C (p.Ile733Leu) c.*216A>C (n.*216A>C) n.661A>C c.2437A>C (p.Ile813Leu) c.2011A>C (p.Ile671Leu) c.2035A>C (p.Ile679Leu) n.2166A>C c.2431A>C (p.Ile811Leu) n.2611A>C n.2591A>C c.2083A>C (p.Ile695Leu) n.2576A>C | |
| 20 | g.3228962T= | CA2346475256 | SLC4A11 | c.2068A= (p.Ile690=) c.1999A= (p.Ile667=) c.1939A= (p.Ile647=) c.1954A= (p.Ile652=) c.2116A= (p.Ile706=) c.2197A= (p.Ile733=) c.*216A= (n.*216A=) n.661A= c.2437A= (p.Ile813=) c.2011A= (p.Ile671=) c.2035A= (p.Ile679=) n.2166A= c.2431A= (p.Ile811=) n.2611A= n.2591A= c.2083A= (p.Ile695=) n.2576A= | |
| 20 | g.3228963G>A | CA310985950 | SLC4A11 | c.2067C>T (p.Ile689=) c.1998C>T (p.Ile666=) c.1938C>T (p.Ile646=) c.1953C>T (p.Ile651=) c.2115C>T (p.Ile705=) c.2196C>T (p.Ile732=) c.*215C>T (n.*215C>T) n.660C>T c.2436C>T (p.Ile812=) c.2010C>T (p.Ile670=) c.2034C>T (p.Ile678=) n.2165C>T c.2430C>T (p.Ile810=) n.2610C>T n.2590C>T c.2082C>T (p.Ile694=) n.2575C>T | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.3228963G>C | CA408087091 | SLC4A11 | c.2067C>G (p.Ile689Met) c.1998C>G (p.Ile666Met) c.1938C>G (p.Ile646Met) c.1953C>G (p.Ile651Met) c.2115C>G (p.Ile705Met) c.2196C>G (p.Ile732Met) c.*215C>G (n.*215C>G) n.660C>G c.2436C>G (p.Ile812Met) c.2010C>G (p.Ile670Met) c.2034C>G (p.Ile678Met) n.2165C>G c.2430C>G (p.Ile810Met) n.2610C>G n.2590C>G c.2082C>G (p.Ile694Met) n.2575C>G | |
| 20 | g.3228963G= | CA2346475257 | SLC4A11 | c.2067C= (p.Ile689=) c.1998C= (p.Ile666=) c.1938C= (p.Ile646=) c.1953C= (p.Ile651=) c.2115C= (p.Ile705=) c.2196C= (p.Ile732=) c.*215C= (n.*215C=) n.660C= c.2436C= (p.Ile812=) c.2010C= (p.Ile670=) c.2034C= (p.Ile678=) n.2165C= c.2430C= (p.Ile810=) n.2610C= n.2590C= c.2082C= (p.Ile694=) n.2575C= | |
| 20 | g.3228963G>T | CA509558196 | SLC4A11 | c.2067C>A (p.Ile689=) c.1998C>A (p.Ile666=) c.1938C>A (p.Ile646=) c.1953C>A (p.Ile651=) c.2115C>A (p.Ile705=) c.2196C>A (p.Ile732=) c.*215C>A (n.*215C>A) n.660C>A c.2436C>A (p.Ile812=) c.2010C>A (p.Ile670=) c.2034C>A (p.Ile678=) n.2165C>A c.2430C>A (p.Ile810=) n.2610C>A n.2590C>A c.2082C>A (p.Ile694=) n.2575C>A | |
| 20 | g.3228964A>C | CA408087092 | SLC4A11 | c.2066T>G (p.Ile689Ser) c.1997T>G (p.Ile666Ser) c.1937T>G (p.Ile646Ser) c.1952T>G (p.Ile651Ser) c.2114T>G (p.Ile705Ser) c.2195T>G (p.Ile732Ser) c.*214T>G (n.*214T>G) n.659T>G c.2435T>G (p.Ile812Ser) c.2009T>G (p.Ile670Ser) c.2033T>G (p.Ile678Ser) n.2164T>G c.2429T>G (p.Ile810Ser) n.2609T>G n.2589T>G c.2081T>G (p.Ile694Ser) n.2574T>G | |
| 20 | g.3228964A>G | CA408087093 | SLC4A11 | c.2066T>C (p.Ile689Thr) c.1997T>C (p.Ile666Thr) c.1937T>C (p.Ile646Thr) c.1952T>C (p.Ile651Thr) c.2114T>C (p.Ile705Thr) c.2195T>C (p.Ile732Thr) c.*214T>C (n.*214T>C) n.659T>C c.2435T>C (p.Ile812Thr) c.2009T>C (p.Ile670Thr) c.2033T>C (p.Ile678Thr) n.2164T>C c.2429T>C (p.Ile810Thr) n.2609T>C n.2589T>C c.2081T>C (p.Ile694Thr) n.2574T>C | |
| 20 | g.3228964A>T | CA408087094 | SLC4A11 | c.2066T>A (p.Ile689Asn) c.1997T>A (p.Ile666Asn) c.1937T>A (p.Ile646Asn) c.1952T>A (p.Ile651Asn) c.2114T>A (p.Ile705Asn) c.2195T>A (p.Ile732Asn) c.*214T>A (n.*214T>A) n.659T>A c.2435T>A (p.Ile812Asn) c.2009T>A (p.Ile670Asn) c.2033T>A (p.Ile678Asn) n.2164T>A c.2429T>A (p.Ile810Asn) n.2609T>A n.2589T>A c.2081T>A (p.Ile694Asn) n.2574T>A | |
| 20 | g.3228965T>A | CA408087095 | SLC4A11 | c.2065A>T (p.Ile689Phe) c.1996A>T (p.Ile666Phe) c.1936A>T (p.Ile646Phe) c.1951A>T (p.Ile651Phe) c.2113A>T (p.Ile705Phe) c.2194A>T (p.Ile732Phe) c.*213A>T (n.*213A>T) n.658A>T c.2434A>T (p.Ile812Phe) c.2008A>T (p.Ile670Phe) c.2032A>T (p.Ile678Phe) n.2163A>T c.2428A>T (p.Ile810Phe) n.2608A>T n.2588A>T c.2080A>T (p.Ile694Phe) n.2573A>T | |
| 20 | g.3228965T>C | CA408087096 | SLC4A11 | c.2065A>G (p.Ile689Val) c.1996A>G (p.Ile666Val) c.1936A>G (p.Ile646Val) c.1951A>G (p.Ile651Val) c.2113A>G (p.Ile705Val) c.2194A>G (p.Ile732Val) c.*213A>G (n.*213A>G) n.658A>G c.2434A>G (p.Ile812Val) c.2008A>G (p.Ile670Val) c.2032A>G (p.Ile678Val) n.2163A>G c.2428A>G (p.Ile810Val) n.2608A>G n.2588A>G c.2080A>G (p.Ile694Val) n.2573A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3228965T>G | CA408087097 | SLC4A11 | c.2065A>C (p.Ile689Leu) c.1996A>C (p.Ile666Leu) c.1936A>C (p.Ile646Leu) c.1951A>C (p.Ile651Leu) c.2113A>C (p.Ile705Leu) c.2194A>C (p.Ile732Leu) c.*213A>C (n.*213A>C) n.658A>C c.2434A>C (p.Ile812Leu) c.2008A>C (p.Ile670Leu) c.2032A>C (p.Ile678Leu) n.2163A>C c.2428A>C (p.Ile810Leu) n.2608A>C n.2588A>C c.2080A>C (p.Ile694Leu) n.2573A>C |