Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.69236961G>ACA133552TJP2c.2004G>A (p.Met668Ile)
c.2016G>A (p.Met672Ile)
c.2097G>A (p.Met699Ile)
n.2083G>A
c.2181G>A (p.Met727Ile)
c.2391G>A (p.Met797Ile)
c.*2192G>A (n.*2192G>A)
c.*2311G>A (n.*2311G>A)
c.1935G>A (p.Met645Ile)
c.713G>A
n.2314G>A
n.2028G>A
c.2007G>A (p.Met669Ile)
c.1277G>A
n.1527G>A
c.1998G>A (p.Met666Ile)
c.1929G>A (p.Met643Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.69236961G>CCA5073557TJP2c.2004G>C (p.Met668Ile)
c.2016G>C (p.Met672Ile)
c.2097G>C (p.Met699Ile)
n.2083G>C
c.2181G>C (p.Met727Ile)
c.2391G>C (p.Met797Ile)
c.*2192G>C (n.*2192G>C)
c.*2311G>C (n.*2311G>C)
c.1935G>C (p.Met645Ile)
c.713G>C
n.2314G>C
n.2028G>C
c.2007G>C (p.Met669Ile)
c.1277G>C
n.1527G>C
c.1998G>C (p.Met666Ile)
c.1929G>C (p.Met643Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.69236961G=CA1854127102TJP2c.2004G= (p.Met668=)
c.2016G= (p.Met672=)
c.2097G= (p.Met699=)
n.2083G=
c.2181G= (p.Met727=)
c.2391G= (p.Met797=)
c.*2192G= (n.*2192G=)
c.*2311G= (n.*2311G=)
c.1935G= (p.Met645=)
c.713G=
n.2314G=
n.2028G=
c.2007G= (p.Met669=)
c.1277G=
n.1527G=
c.1998G= (p.Met666=)
c.1929G= (p.Met643=)
9g.69236961G>TCA373532756TJP2c.2004G>T (p.Met668Ile)
c.2016G>T (p.Met672Ile)
c.2097G>T (p.Met699Ile)
n.2083G>T
c.2181G>T (p.Met727Ile)
c.2391G>T (p.Met797Ile)
c.*2192G>T (n.*2192G>T)
c.*2311G>T (n.*2311G>T)
c.1935G>T (p.Met645Ile)
c.713G>T
n.2314G>T
n.2028G>T
c.2007G>T (p.Met669Ile)
c.1277G>T
n.1527G>T
c.1998G>T (p.Met666Ile)
c.1929G>T (p.Met643Ile)
9g.69236962G>ACA373532757TJP2c.2005G>A (p.Ala669Thr)
c.2017G>A (p.Ala673Thr)
c.2098G>A (p.Ala700Thr)
n.2084G>A
c.2182G>A (p.Ala728Thr)
c.2392G>A (p.Ala798Thr)
c.*2193G>A (n.*2193G>A)
c.*2312G>A (n.*2312G>A)
c.1936G>A (p.Ala646Thr)
c.714G>A
n.2315G>A
n.2029G>A
c.2008G>A (p.Ala670Thr)
c.1278G>A
n.1528G>A
c.1999G>A (p.Ala667Thr)
c.1930G>A (p.Ala644Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.69236962G>CCA373532758TJP2c.2005G>C (p.Ala669Pro)
c.2017G>C (p.Ala673Pro)
c.2098G>C (p.Ala700Pro)
n.2084G>C
c.2182G>C (p.Ala728Pro)
c.2392G>C (p.Ala798Pro)
c.*2193G>C (n.*2193G>C)
c.*2312G>C (n.*2312G>C)
c.1936G>C (p.Ala646Pro)
c.714G>C
n.2315G>C
n.2029G>C
c.2008G>C (p.Ala670Pro)
c.1278G>C
n.1528G>C
c.1999G>C (p.Ala667Pro)
c.1930G>C (p.Ala644Pro)
9g.69236962G=CA1854127103TJP2c.2005G= (p.Ala669=)
c.2017G= (p.Ala673=)
c.2098G= (p.Ala700=)
n.2084G=
c.2182G= (p.Ala728=)
c.2392G= (p.Ala798=)
c.*2193G= (n.*2193G=)
c.*2312G= (n.*2312G=)
c.1936G= (p.Ala646=)
c.714G=
n.2315G=
n.2029G=
c.2008G= (p.Ala670=)
c.1278G=
n.1528G=
c.1999G= (p.Ala667=)
c.1930G= (p.Ala644=)
9g.69236962G>TCA373532759TJP2c.2005G>T (p.Ala669Ser)
c.2017G>T (p.Ala673Ser)
c.2098G>T (p.Ala700Ser)
n.2084G>T
c.2182G>T (p.Ala728Ser)
c.2392G>T (p.Ala798Ser)
c.*2193G>T (n.*2193G>T)
c.*2312G>T (n.*2312G>T)
c.1936G>T (p.Ala646Ser)
c.714G>T
n.2315G>T
n.2029G>T
c.2008G>T (p.Ala670Ser)
c.1278G>T
n.1528G>T
c.1999G>T (p.Ala667Ser)
c.1930G>T (p.Ala644Ser)
 dbSNP gnomAD v4
9g.69236963C>ACA373532760TJP2c.2006C>A (p.Ala669Asp)
c.2018C>A (p.Ala673Asp)
c.2099C>A (p.Ala700Asp)
n.2085C>A
c.2183C>A (p.Ala728Asp)
c.2393C>A (p.Ala798Asp)
c.*2194C>A (n.*2194C>A)
c.*2313C>A (n.*2313C>A)
c.1937C>A (p.Ala646Asp)
c.715C>A
n.2316C>A
n.2030C>A
c.2009C>A (p.Ala670Asp)
c.1279C>A
n.1529C>A
c.2000C>A (p.Ala667Asp)
c.1931C>A (p.Ala644Asp)
9g.69236963C>GCA373532761TJP2c.2006C>G (p.Ala669Gly)
c.2018C>G (p.Ala673Gly)
c.2099C>G (p.Ala700Gly)
n.2085C>G
c.2183C>G (p.Ala728Gly)
c.2393C>G (p.Ala798Gly)
c.*2194C>G (n.*2194C>G)
c.*2313C>G (n.*2313C>G)
c.1937C>G (p.Ala646Gly)
c.715C>G
n.2316C>G
n.2030C>G
c.2009C>G (p.Ala670Gly)
c.1279C>G
n.1529C>G
c.2000C>G (p.Ala667Gly)
c.1931C>G (p.Ala644Gly)
9g.69236963C>TCA373532762TJP2c.2006C>T (p.Ala669Val)
c.2018C>T (p.Ala673Val)
c.2099C>T (p.Ala700Val)
n.2085C>T
c.2183C>T (p.Ala728Val)
c.2393C>T (p.Ala798Val)
c.*2194C>T (n.*2194C>T)
c.*2313C>T (n.*2313C>T)
c.1937C>T (p.Ala646Val)
c.715C>T
n.2316C>T
n.2030C>T
c.2009C>T (p.Ala670Val)
c.1279C>T
n.1529C>T
c.2000C>T (p.Ala667Val)
c.1931C>T (p.Ala644Val)
9g.69236964C>ACA465252595TJP2c.2007C>A (p.Ala669=)
c.2019C>A (p.Ala673=)
c.2100C>A (p.Ala700=)
n.2086C>A
c.2184C>A (p.Ala728=)
c.2394C>A (p.Ala798=)
c.*2195C>A (n.*2195C>A)
c.*2314C>A (n.*2314C>A)
c.1938C>A (p.Ala646=)
c.716C>A
n.2317C>A
n.2031C>A
c.2010C>A (p.Ala670=)
c.1280C>A
n.1530C>A
c.2001C>A (p.Ala667=)
c.1932C>A (p.Ala644=)
9g.69236964C>GCA465252596TJP2c.2007C>G (p.Ala669=)
c.2019C>G (p.Ala673=)
c.2100C>G (p.Ala700=)
n.2086C>G
c.2184C>G (p.Ala728=)
c.2394C>G (p.Ala798=)
c.*2195C>G (n.*2195C>G)
c.*2314C>G (n.*2314C>G)
c.1938C>G (p.Ala646=)
c.716C>G
n.2317C>G
n.2031C>G
c.2010C>G (p.Ala670=)
c.1280C>G
n.1530C>G
c.2001C>G (p.Ala667=)
c.1932C>G (p.Ala644=)
9g.69236964C>TCA465252597TJP2c.2007C>T (p.Ala669=)
c.2019C>T (p.Ala673=)
c.2100C>T (p.Ala700=)
n.2086C>T
c.2184C>T (p.Ala728=)
c.2394C>T (p.Ala798=)
c.*2195C>T (n.*2195C>T)
c.*2314C>T (n.*2314C>T)
c.1938C>T (p.Ala646=)
c.716C>T
n.2317C>T
n.2031C>T
c.2010C>T (p.Ala670=)
c.1280C>T
n.1530C>T
c.2001C>T (p.Ala667=)
c.1932C>T (p.Ala644=)
 gnomAD v4
9g.69236965A=CA1854127104TJP2c.2008A= (p.Ser670=)
c.2020A= (p.Ser674=)
c.2101A= (p.Ser701=)
n.2087A=
c.2185A= (p.Ser729=)
c.2395A= (p.Ser799=)
c.*2196A= (n.*2196A=)
c.*2315A= (n.*2315A=)
c.1939A= (p.Ser647=)
c.717A=
n.2318A=
n.2032A=
c.2011A= (p.Ser671=)
c.1281A=
n.1531A=
c.2002A= (p.Ser668=)
c.1933A= (p.Ser645=)
9g.69236965A>CCA373532763TJP2c.2008A>C (p.Ser670Arg)
c.2020A>C (p.Ser674Arg)
c.2101A>C (p.Ser701Arg)
n.2087A>C
c.2185A>C (p.Ser729Arg)
c.2395A>C (p.Ser799Arg)
c.*2196A>C (n.*2196A>C)
c.*2315A>C (n.*2315A>C)
c.1939A>C (p.Ser647Arg)
c.717A>C
n.2318A>C
n.2032A>C
c.2011A>C (p.Ser671Arg)
c.1281A>C
n.1531A>C
c.2002A>C (p.Ser668Arg)
c.1933A>C (p.Ser645Arg)
 gnomAD v4
9g.69236965A>GCA373532764TJP2c.2008A>G (p.Ser670Gly)
c.2020A>G (p.Ser674Gly)
c.2101A>G (p.Ser701Gly)
n.2087A>G
c.2185A>G (p.Ser729Gly)
c.2395A>G (p.Ser799Gly)
c.*2196A>G (n.*2196A>G)
c.*2315A>G (n.*2315A>G)
c.1939A>G (p.Ser647Gly)
c.717A>G
n.2318A>G
n.2032A>G
c.2011A>G (p.Ser671Gly)
c.1281A>G
n.1531A>G
c.2002A>G (p.Ser668Gly)
c.1933A>G (p.Ser645Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.69236965A>TCA373532765TJP2c.2008A>T (p.Ser670Cys)
c.2020A>T (p.Ser674Cys)
c.2101A>T (p.Ser701Cys)
n.2087A>T
c.2185A>T (p.Ser729Cys)
c.2395A>T (p.Ser799Cys)
c.*2196A>T (n.*2196A>T)
c.*2315A>T (n.*2315A>T)
c.1939A>T (p.Ser647Cys)
c.717A>T
n.2318A>T
n.2032A>T
c.2011A>T (p.Ser671Cys)
c.1281A>T
n.1531A>T
c.2002A>T (p.Ser668Cys)
c.1933A>T (p.Ser645Cys)
9g.69236966G>ACA373532767TJP2c.2009G>A (p.Ser670Asn)
c.2021G>A (p.Ser674Asn)
c.2102G>A (p.Ser701Asn)
n.2088G>A
c.2186G>A (p.Ser729Asn)
c.2396G>A (p.Ser799Asn)
c.*2197G>A (n.*2197G>A)
c.*2316G>A (n.*2316G>A)
c.1940G>A (p.Ser647Asn)
c.718G>A
n.2319G>A
n.2033G>A
c.2012G>A (p.Ser671Asn)
c.1282G>A
n.1532G>A
c.2003G>A (p.Ser668Asn)
c.1934G>A (p.Ser645Asn)
9g.69236966G>CCA373532768TJP2c.2009G>C (p.Ser670Thr)
c.2021G>C (p.Ser674Thr)
c.2102G>C (p.Ser701Thr)
n.2088G>C
c.2186G>C (p.Ser729Thr)
c.2396G>C (p.Ser799Thr)
c.*2197G>C (n.*2197G>C)
c.*2316G>C (n.*2316G>C)
c.1940G>C (p.Ser647Thr)
c.718G>C
n.2319G>C
n.2033G>C
c.2012G>C (p.Ser671Thr)
c.1282G>C
n.1532G>C
c.2003G>C (p.Ser668Thr)
c.1934G>C (p.Ser645Thr)
9g.69236966G>TCA373532766TJP2c.2009G>T (p.Ser670Ile)
c.2021G>T (p.Ser674Ile)
c.2102G>T (p.Ser701Ile)
n.2088G>T
c.2186G>T (p.Ser729Ile)
c.2396G>T (p.Ser799Ile)
c.*2197G>T (n.*2197G>T)
c.*2316G>T (n.*2316G>T)
c.1940G>T (p.Ser647Ile)
c.718G>T
n.2319G>T
n.2033G>T
c.2012G>T (p.Ser671Ile)
c.1282G>T
n.1532G>T
c.2003G>T (p.Ser668Ile)
c.1934G>T (p.Ser645Ile)
9g.69236967T>ACA373532769TJP2c.2010T>A (p.Ser670Arg)
c.2022T>A (p.Ser674Arg)
c.2103T>A (p.Ser701Arg)
n.2089T>A
c.2187T>A (p.Ser729Arg)
c.2397T>A (p.Ser799Arg)
c.*2198T>A (n.*2198T>A)
c.*2317T>A (n.*2317T>A)
c.1941T>A (p.Ser647Arg)
c.719T>A
n.2320T>A
n.2034T>A
c.2013T>A (p.Ser671Arg)
c.1283T>A
n.1533T>A
c.2004T>A (p.Ser668Arg)
c.1935T>A (p.Ser645Arg)
9g.69236967T>CCA465252603TJP2c.2010T>C (p.Ser670=)
c.2022T>C (p.Ser674=)
c.2103T>C (p.Ser701=)
n.2089T>C
c.2187T>C (p.Ser729=)
c.2397T>C (p.Ser799=)
c.*2198T>C (n.*2198T>C)
c.*2317T>C (n.*2317T>C)
c.1941T>C (p.Ser647=)
c.719T>C
n.2320T>C
n.2034T>C
c.2013T>C (p.Ser671=)
c.1283T>C
n.1533T>C
c.2004T>C (p.Ser668=)
c.1935T>C (p.Ser645=)
 dbSNP gnomAD v4
9g.69236967T>GCA373532770TJP2c.2010T>G (p.Ser670Arg)
c.2022T>G (p.Ser674Arg)
c.2103T>G (p.Ser701Arg)
n.2089T>G
c.2187T>G (p.Ser729Arg)
c.2397T>G (p.Ser799Arg)
c.*2198T>G (n.*2198T>G)
c.*2317T>G (n.*2317T>G)
c.1941T>G (p.Ser647Arg)
c.719T>G
n.2320T>G
n.2034T>G
c.2013T>G (p.Ser671Arg)
c.1283T>G
n.1533T>G
c.2004T>G (p.Ser668Arg)
c.1935T>G (p.Ser645Arg)
9g.69236967T=CA1854127105TJP2c.2010T= (p.Ser670=)
c.2022T= (p.Ser674=)
c.2103T= (p.Ser701=)
n.2089T=
c.2187T= (p.Ser729=)
c.2397T= (p.Ser799=)
c.*2198T= (n.*2198T=)
c.*2317T= (n.*2317T=)
c.1941T= (p.Ser647=)
c.719T=
n.2320T=
n.2034T=
c.2013T= (p.Ser671=)
c.1283T=
n.1533T=
c.2004T= (p.Ser668=)
c.1935T= (p.Ser645=)
9g.69236968G>ACA373532771TJP2c.2011G>A (p.Val671Ile)
c.2023G>A (p.Val675Ile)
c.2104G>A (p.Val702Ile)
n.2090G>A
c.2188G>A (p.Val730Ile)
c.2398G>A (p.Val800Ile)
c.*2199G>A (n.*2199G>A)
c.*2318G>A (n.*2318G>A)
c.1942G>A (p.Val648Ile)
c.720G>A
n.2321G>A
n.2035G>A
c.2014G>A (p.Val672Ile)
c.1284G>A
n.1534G>A
c.2005G>A (p.Val669Ile)
c.1936G>A (p.Val646Ile)
9g.69236968G>CCA373532772TJP2c.2011G>C (p.Val671Leu)
c.2023G>C (p.Val675Leu)
c.2104G>C (p.Val702Leu)
n.2090G>C
c.2188G>C (p.Val730Leu)
c.2398G>C (p.Val800Leu)
c.*2199G>C (n.*2199G>C)
c.*2318G>C (n.*2318G>C)
c.1942G>C (p.Val648Leu)
c.720G>C
n.2321G>C
n.2035G>C
c.2014G>C (p.Val672Leu)
c.1284G>C
n.1534G>C
c.2005G>C (p.Val669Leu)
c.1936G>C (p.Val646Leu)
9g.69236968G>TCA373532773TJP2c.2011G>T (p.Val671Phe)
c.2023G>T (p.Val675Phe)
c.2104G>T (p.Val702Phe)
n.2090G>T
c.2188G>T (p.Val730Phe)
c.2398G>T (p.Val800Phe)
c.*2199G>T (n.*2199G>T)
c.*2318G>T (n.*2318G>T)
c.1942G>T (p.Val648Phe)
c.720G>T
n.2321G>T
n.2035G>T
c.2014G>T (p.Val672Phe)
c.1284G>T
n.1534G>T
c.2005G>T (p.Val669Phe)
c.1936G>T (p.Val646Phe)
9g.69236969T>ACA373532776TJP2c.2012T>A (p.Val671Asp)
c.2024T>A (p.Val675Asp)
c.2105T>A (p.Val702Asp)
n.2091T>A
c.2189T>A (p.Val730Asp)
c.2399T>A (p.Val800Asp)
c.*2200T>A (n.*2200T>A)
c.*2319T>A (n.*2319T>A)
c.1943T>A (p.Val648Asp)
c.721T>A
n.2322T>A
n.2036T>A
c.2015T>A (p.Val672Asp)
c.1285T>A
n.1535T>A
c.2006T>A (p.Val669Asp)
c.1937T>A (p.Val646Asp)
9g.69236969T>CCA373532774TJP2c.2012T>C (p.Val671Ala)
c.2024T>C (p.Val675Ala)
c.2105T>C (p.Val702Ala)
n.2091T>C
c.2189T>C (p.Val730Ala)
c.2399T>C (p.Val800Ala)
c.*2200T>C (n.*2200T>C)
c.*2319T>C (n.*2319T>C)
c.1943T>C (p.Val648Ala)
c.721T>C
n.2322T>C
n.2036T>C
c.2015T>C (p.Val672Ala)
c.1285T>C
n.1535T>C
c.2006T>C (p.Val669Ala)
c.1937T>C (p.Val646Ala)
9g.69236969T>GCA373532775TJP2c.2012T>G (p.Val671Gly)
c.2024T>G (p.Val675Gly)
c.2105T>G (p.Val702Gly)
n.2091T>G
c.2189T>G (p.Val730Gly)
c.2399T>G (p.Val800Gly)
c.*2200T>G (n.*2200T>G)
c.*2319T>G (n.*2319T>G)
c.1943T>G (p.Val648Gly)
c.721T>G
n.2322T>G
n.2036T>G
c.2015T>G (p.Val672Gly)
c.1285T>G
n.1535T>G
c.2006T>G (p.Val669Gly)
c.1937T>G (p.Val646Gly)
9g.69236970T>ACA465252608TJP2c.2013T>A (p.Val671=)
c.2025T>A (p.Val675=)
c.2106T>A (p.Val702=)
n.2092T>A
c.2190T>A (p.Val730=)
c.2400T>A (p.Val800=)
c.*2201T>A (n.*2201T>A)
c.*2320T>A (n.*2320T>A)
c.1944T>A (p.Val648=)
c.722T>A
n.2323T>A
n.2037T>A
c.2016T>A (p.Val672=)
c.1286T>A
n.1536T>A
c.2007T>A (p.Val669=)
c.1938T>A (p.Val646=)
9g.69236970T>CCA465252611TJP2c.2013T>C (p.Val671=)
c.2025T>C (p.Val675=)
c.2106T>C (p.Val702=)
n.2092T>C
c.2190T>C (p.Val730=)
c.2400T>C (p.Val800=)
c.*2201T>C (n.*2201T>C)
c.*2320T>C (n.*2320T>C)
c.1944T>C (p.Val648=)
c.722T>C
n.2323T>C
n.2037T>C
c.2016T>C (p.Val672=)
c.1286T>C
n.1536T>C
c.2007T>C (p.Val669=)
c.1938T>C (p.Val646=)
9g.69236970T>GCA465252609TJP2c.2013T>G (p.Val671=)
c.2025T>G (p.Val675=)
c.2106T>G (p.Val702=)
n.2092T>G
c.2190T>G (p.Val730=)
c.2400T>G (p.Val800=)
c.*2201T>G (n.*2201T>G)
c.*2320T>G (n.*2320T>G)
c.1944T>G (p.Val648=)
c.722T>G
n.2323T>G
n.2037T>G
c.2016T>G (p.Val672=)
c.1286T>G
n.1536T>G
c.2007T>G (p.Val669=)
c.1938T>G (p.Val646=)
9g.69236971C>ACA373532777TJP2c.2014C>A (p.Gln672Lys)
c.2026C>A (p.Gln676Lys)
c.2107C>A (p.Gln703Lys)
n.2093C>A
c.2191C>A (p.Gln731Lys)
c.2401C>A (p.Gln801Lys)
c.*2202C>A (n.*2202C>A)
c.*2321C>A (n.*2321C>A)
c.1945C>A (p.Gln649Lys)
c.723C>A
n.2324C>A
n.2038C>A
c.2017C>A (p.Gln673Lys)
c.1287C>A
n.1537C>A
c.2008C>A (p.Gln670Lys)
c.1939C>A (p.Gln647Lys)
9g.69236971C=CA1854127106TJP2c.2014C= (p.Gln672=)
c.2026C= (p.Gln676=)
c.2107C= (p.Gln703=)
n.2093C=
c.2191C= (p.Gln731=)
c.2401C= (p.Gln801=)
c.*2202C= (n.*2202C=)
c.*2321C= (n.*2321C=)
c.1945C= (p.Gln649=)
c.723C=
n.2324C=
n.2038C=
c.2017C= (p.Gln673=)
c.1287C=
n.1537C=
c.2008C= (p.Gln670=)
c.1939C= (p.Gln647=)
9g.69236971C>GCA5073558TJP2c.2014C>G (p.Gln672Glu)
c.2026C>G (p.Gln676Glu)
c.2107C>G (p.Gln703Glu)
n.2093C>G
c.2191C>G (p.Gln731Glu)
c.2401C>G (p.Gln801Glu)
c.*2202C>G (n.*2202C>G)
c.*2321C>G (n.*2321C>G)
c.1945C>G (p.Gln649Glu)
c.723C>G
n.2324C>G
n.2038C>G
c.2017C>G (p.Gln673Glu)
c.1287C>G
n.1537C>G
c.2008C>G (p.Gln670Glu)
c.1939C>G (p.Gln647Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.69236971C>TCA373532778TJP2c.2014C>T (p.Gln672Ter)
c.2026C>T (p.Gln676Ter)
c.2107C>T (p.Gln703Ter)
n.2093C>T
c.2191C>T (p.Gln731Ter)
c.2401C>T (p.Gln801Ter)
c.*2202C>T (n.*2202C>T)
c.*2321C>T (n.*2321C>T)
c.1945C>T (p.Gln649Ter)
c.723C>T
n.2324C>T
n.2038C>T
c.2017C>T (p.Gln673Ter)
c.1287C>T
n.1537C>T
c.2008C>T (p.Gln670Ter)
c.1939C>T (p.Gln647Ter)
 gnomAD v4
9g.69236972A>CCA373532779TJP2c.2015A>C (p.Gln672Pro)
c.2027A>C (p.Gln676Pro)
c.2108A>C (p.Gln703Pro)
n.2094A>C
c.2192A>C (p.Gln731Pro)
c.2402A>C (p.Gln801Pro)
c.*2203A>C (n.*2203A>C)
c.*2322A>C (n.*2322A>C)
c.1946A>C (p.Gln649Pro)
c.724A>C
n.2325A>C
n.2039A>C
c.2018A>C (p.Gln673Pro)
c.1288A>C
n.1538A>C
c.2009A>C (p.Gln670Pro)
c.1940A>C (p.Gln647Pro)
9g.69236972A>GCA373532780TJP2c.2015A>G (p.Gln672Arg)
c.2027A>G (p.Gln676Arg)
c.2108A>G (p.Gln703Arg)
n.2094A>G
c.2192A>G (p.Gln731Arg)
c.2402A>G (p.Gln801Arg)
c.*2203A>G (n.*2203A>G)
c.*2322A>G (n.*2322A>G)
c.1946A>G (p.Gln649Arg)
c.724A>G
n.2325A>G
n.2039A>G
c.2018A>G (p.Gln673Arg)
c.1288A>G
n.1538A>G
c.2009A>G (p.Gln670Arg)
c.1940A>G (p.Gln647Arg)
9g.69236972A>TCA373532781TJP2c.2015A>T (p.Gln672Leu)
c.2027A>T (p.Gln676Leu)
c.2108A>T (p.Gln703Leu)
n.2094A>T
c.2192A>T (p.Gln731Leu)
c.2402A>T (p.Gln801Leu)
c.*2203A>T (n.*2203A>T)
c.*2322A>T (n.*2322A>T)
c.1946A>T (p.Gln649Leu)
c.724A>T
n.2325A>T
n.2039A>T
c.2018A>T (p.Gln673Leu)
c.1288A>T
n.1538A>T
c.2009A>T (p.Gln670Leu)
c.1940A>T (p.Gln647Leu)
9g.69236973A=CA1854127107TJP2c.2016A= (p.Gln672=)
c.2028A= (p.Gln676=)
c.2109A= (p.Gln703=)
n.2095A=
c.2193A= (p.Gln731=)
c.2403A= (p.Gln801=)
c.*2204A= (n.*2204A=)
c.*2323A= (n.*2323A=)
c.1947A= (p.Gln649=)
c.725A=
n.2326A=
n.2040A=
c.2019A= (p.Gln673=)
c.1289A=
n.1539A=
c.2010A= (p.Gln670=)
c.1941A= (p.Gln647=)
9g.69236973A>CCA373532783TJP2c.2016A>C (p.Gln672His)
c.2028A>C (p.Gln676His)
c.2109A>C (p.Gln703His)
n.2095A>C
c.2193A>C (p.Gln731His)
c.2403A>C (p.Gln801His)
c.*2204A>C (n.*2204A>C)
c.*2323A>C (n.*2323A>C)
c.1947A>C (p.Gln649His)
c.725A>C
n.2326A>C
n.2040A>C
c.2019A>C (p.Gln673His)
c.1289A>C
n.1539A>C
c.2010A>C (p.Gln670His)
c.1941A>C (p.Gln647His)
9g.69236973A>GCA5073559TJP2c.2016A>G (p.Gln672=)
c.2028A>G (p.Gln676=)
c.2109A>G (p.Gln703=)
n.2095A>G
c.2193A>G (p.Gln731=)
c.2403A>G (p.Gln801=)
c.*2204A>G (n.*2204A>G)
c.*2323A>G (n.*2323A>G)
c.1947A>G (p.Gln649=)
c.725A>G
n.2326A>G
n.2040A>G
c.2019A>G (p.Gln673=)
c.1289A>G
n.1539A>G
c.2010A>G (p.Gln670=)
c.1941A>G (p.Gln647=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69236973A>TCA373532782TJP2c.2016A>T (p.Gln672His)
c.2028A>T (p.Gln676His)
c.2109A>T (p.Gln703His)
n.2095A>T
c.2193A>T (p.Gln731His)
c.2403A>T (p.Gln801His)
c.*2204A>T (n.*2204A>T)
c.*2323A>T (n.*2323A>T)
c.1947A>T (p.Gln649His)
c.725A>T
n.2326A>T
n.2040A>T
c.2019A>T (p.Gln673His)
c.1289A>T
n.1539A>T
c.2010A>T (p.Gln670His)
c.1941A>T (p.Gln647His)
9g.69236974A>CCA373532785TJP2c.2017A>C (p.Asn673His)
c.2029A>C (p.Asn677His)
c.2110A>C (p.Asn704His)
n.2096A>C
c.2194A>C (p.Asn732His)
c.2404A>C (p.Asn802His)
c.*2205A>C (n.*2205A>C)
c.*2324A>C (n.*2324A>C)
c.1948A>C (p.Asn650His)
c.726A>C
n.2327A>C
n.2041A>C
c.2020A>C (p.Asn674His)
c.1290A>C
n.1540A>C
c.2011A>C (p.Asn671His)
c.1942A>C (p.Asn648His)
9g.69236974A>GCA373532784TJP2c.2017A>G (p.Asn673Asp)
c.2029A>G (p.Asn677Asp)
c.2110A>G (p.Asn704Asp)
n.2096A>G
c.2194A>G (p.Asn732Asp)
c.2404A>G (p.Asn802Asp)
c.*2205A>G (n.*2205A>G)
c.*2324A>G (n.*2324A>G)
c.1948A>G (p.Asn650Asp)
c.726A>G
n.2327A>G
n.2041A>G
c.2020A>G (p.Asn674Asp)
c.1290A>G
n.1540A>G
c.2011A>G (p.Asn671Asp)
c.1942A>G (p.Asn648Asp)
9g.69236974A>TCA373532786TJP2c.2017A>T (p.Asn673Tyr)
c.2029A>T (p.Asn677Tyr)
c.2110A>T (p.Asn704Tyr)
n.2096A>T
c.2194A>T (p.Asn732Tyr)
c.2404A>T (p.Asn802Tyr)
c.*2205A>T (n.*2205A>T)
c.*2324A>T (n.*2324A>T)
c.1948A>T (p.Asn650Tyr)
c.726A>T
n.2327A>T
n.2041A>T
c.2020A>T (p.Asn674Tyr)
c.1290A>T
n.1540A>T
c.2011A>T (p.Asn671Tyr)
c.1942A>T (p.Asn648Tyr)
9g.69236975A>CCA373532787TJP2c.2018A>C (p.Asn673Thr)
c.2030A>C (p.Asn677Thr)
c.2111A>C (p.Asn704Thr)
n.2097A>C
c.2195A>C (p.Asn732Thr)
c.2405A>C (p.Asn802Thr)
c.*2206A>C (n.*2206A>C)
c.*2325A>C (n.*2325A>C)
c.1949A>C (p.Asn650Thr)
c.727A>C
n.2328A>C
n.2042A>C
c.2021A>C (p.Asn674Thr)
c.1291A>C
n.1541A>C
c.2012A>C (p.Asn671Thr)
c.1943A>C (p.Asn648Thr)
9g.69236975A>GCA373532789TJP2c.2018A>G (p.Asn673Ser)
c.2030A>G (p.Asn677Ser)
c.2111A>G (p.Asn704Ser)
n.2097A>G
c.2195A>G (p.Asn732Ser)
c.2405A>G (p.Asn802Ser)
c.*2206A>G (n.*2206A>G)
c.*2325A>G (n.*2325A>G)
c.1949A>G (p.Asn650Ser)
c.727A>G
n.2328A>G
n.2042A>G
c.2021A>G (p.Asn674Ser)
c.1291A>G
n.1541A>G
c.2012A>G (p.Asn671Ser)
c.1943A>G (p.Asn648Ser)

Number of alleles fetched