Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.22274605C>ACA379924153ANO5n.289C>A
c.1822C>A (p.Arg608Ser)
c.2230C>A (p.Arg744Ser)
n.3266C>A
c.2227C>A (p.Arg743Ser)
c.2272C>A (p.Arg758Ser)
n.2607C>A
c.2269C>A (p.Arg757Ser)
c.2194C>A (p.Arg732Ser)
c.2191C>A (p.Arg731Ser)
c.2179C>A (p.Arg727Ser)
11g.22274605C=CA1957405989ANO5n.289C=
c.1822C= (p.Arg608=)
c.2230C= (p.Arg744=)
n.3266C=
c.2227C= (p.Arg743=)
c.2272C= (p.Arg758=)
n.2607C=
c.2269C= (p.Arg757=)
c.2194C= (p.Arg732=)
c.2191C= (p.Arg731=)
c.2179C= (p.Arg727=)
11g.22274605C>GCA379924154ANO5n.289C>G
c.1822C>G (p.Arg608Gly)
c.2230C>G (p.Arg744Gly)
n.3266C>G
c.2227C>G (p.Arg743Gly)
c.2272C>G (p.Arg758Gly)
n.2607C>G
c.2269C>G (p.Arg757Gly)
c.2194C>G (p.Arg732Gly)
c.2191C>G (p.Arg731Gly)
c.2179C>G (p.Arg727Gly)
11g.22274605C>TCA130516ANO5n.289C>T
c.1822C>T (p.Arg608Cys)
c.2230C>T (p.Arg744Cys)
n.3266C>T
c.2227C>T (p.Arg743Cys)
c.2272C>T (p.Arg758Cys)
n.2607C>T
c.2269C>T (p.Arg757Cys)
c.2194C>T (p.Arg732Cys)
c.2191C>T (p.Arg731Cys)
c.2179C>T (p.Arg727Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.22274606G>ACA5923514ANO5n.290G>A
c.1823G>A (p.Arg608His)
c.2231G>A (p.Arg744His)
n.3267G>A
c.2228G>A (p.Arg743His)
c.2273G>A (p.Arg758His)
n.2608G>A
c.2270G>A (p.Arg757His)
c.2195G>A (p.Arg732His)
c.2192G>A (p.Arg731His)
c.2180G>A (p.Arg727His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22274606G>CCA379924155ANO5n.290G>C
c.1823G>C (p.Arg608Pro)
c.2231G>C (p.Arg744Pro)
n.3267G>C
c.2228G>C (p.Arg743Pro)
c.2273G>C (p.Arg758Pro)
n.2608G>C
c.2270G>C (p.Arg757Pro)
c.2195G>C (p.Arg732Pro)
c.2192G>C (p.Arg731Pro)
c.2180G>C (p.Arg727Pro)
11g.22274606G=CA1957405996ANO5n.290G=
c.1823G= (p.Arg608=)
c.2231G= (p.Arg744=)
n.3267G=
c.2228G= (p.Arg743=)
c.2273G= (p.Arg758=)
n.2608G=
c.2270G= (p.Arg757=)
c.2195G= (p.Arg732=)
c.2192G= (p.Arg731=)
c.2180G= (p.Arg727=)
11g.22274606G>TCA379924156ANO5n.290G>T
c.1823G>T (p.Arg608Leu)
c.2231G>T (p.Arg744Leu)
n.3267G>T
c.2228G>T (p.Arg743Leu)
c.2273G>T (p.Arg758Leu)
n.2608G>T
c.2270G>T (p.Arg757Leu)
c.2195G>T (p.Arg732Leu)
c.2192G>T (p.Arg731Leu)
c.2180G>T (p.Arg727Leu)
 gnomAD v4 COSMIC
11g.22274606_22274613dupCA2740093660ANO5n.290_297dup
c.1823_1830dup (p.Tyr611ValfsTer2)
c.2231_2238dup (p.Tyr747ValfsTer2)
n.3267_3274dup
c.2228_2235dup (p.Tyr746ValfsTer2)
c.2273_2280dup (p.Tyr761ValfsTer2)
n.2608_2615dup
c.2270_2277dup (p.Tyr760ValfsTer2)
c.2195_2202dup (p.Tyr735ValfsTer2)
c.2192_2199dup (p.Tyr734ValfsTer2)
c.2180_2187dup (p.Tyr730ValfsTer2)
 ClinVar
11g.22274607T>ACA473408054ANO5n.291T>A
c.1824T>A (p.Arg608=)
c.2232T>A (p.Arg744=)
n.3268T>A
c.2229T>A (p.Arg743=)
c.2274T>A (p.Arg758=)
n.2609T>A
c.2271T>A (p.Arg757=)
c.2196T>A (p.Arg732=)
c.2193T>A (p.Arg731=)
c.2181T>A (p.Arg727=)
 gnomAD v4
11g.22274607T>CCA473408055ANO5n.291T>C
c.1824T>C (p.Arg608=)
c.2232T>C (p.Arg744=)
n.3268T>C
c.2229T>C (p.Arg743=)
c.2274T>C (p.Arg758=)
n.2609T>C
c.2271T>C (p.Arg757=)
c.2196T>C (p.Arg732=)
c.2193T>C (p.Arg731=)
c.2181T>C (p.Arg727=)
 gnomAD v4
11g.22274607T>GCA473408056ANO5n.291T>G
c.1824T>G (p.Arg608=)
c.2232T>G (p.Arg744=)
n.3268T>G
c.2229T>G (p.Arg743=)
c.2274T>G (p.Arg758=)
n.2609T>G
c.2271T>G (p.Arg757=)
c.2196T>G (p.Arg732=)
c.2193T>G (p.Arg731=)
c.2181T>G (p.Arg727=)
11g.22274608C>ACA379924157ANO5n.292C>A
c.1825C>A (p.Leu609Ile)
c.2233C>A (p.Leu745Ile)
n.3269C>A
c.2230C>A (p.Leu744Ile)
c.2275C>A (p.Leu759Ile)
n.2610C>A
c.2272C>A (p.Leu758Ile)
c.2197C>A (p.Leu733Ile)
c.2194C>A (p.Leu732Ile)
c.2182C>A (p.Leu728Ile)
11g.22274608C=CA1957406002ANO5n.292C=
c.1825C= (p.Leu609=)
c.2233C= (p.Leu745=)
n.3269C=
c.2230C= (p.Leu744=)
c.2275C= (p.Leu759=)
n.2610C=
c.2272C= (p.Leu758=)
c.2197C= (p.Leu733=)
c.2194C= (p.Leu732=)
c.2182C= (p.Leu728=)
11g.22274608C>GCA218777008ANO5n.292C>G
c.1825C>G (p.Leu609Val)
c.2233C>G (p.Leu745Val)
n.3269C>G
c.2230C>G (p.Leu744Val)
c.2275C>G (p.Leu759Val)
n.2610C>G
c.2272C>G (p.Leu758Val)
c.2197C>G (p.Leu733Val)
c.2194C>G (p.Leu732Val)
c.2182C>G (p.Leu728Val)
 dbSNP
11g.22274608C>TCA5923515ANO5n.292C>T
c.1825C>T (p.Leu609=)
c.2233C>T (p.Leu745=)
n.3269C>T
c.2230C>T (p.Leu744=)
c.2275C>T (p.Leu759=)
n.2610C>T
c.2272C>T (p.Leu758=)
c.2197C>T (p.Leu733=)
c.2194C>T (p.Leu732=)
c.2182C>T (p.Leu728=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22274609T>ACA379924158ANO5n.293T>A
c.1826T>A (p.Leu609Gln)
c.2234T>A (p.Leu745Gln)
n.3270T>A
c.2231T>A (p.Leu744Gln)
c.2276T>A (p.Leu759Gln)
n.2611T>A
c.2273T>A (p.Leu758Gln)
c.2198T>A (p.Leu733Gln)
c.2195T>A (p.Leu732Gln)
c.2183T>A (p.Leu728Gln)
11g.22274609T>CCA379924159ANO5n.293T>C
c.1826T>C (p.Leu609Pro)
c.2234T>C (p.Leu745Pro)
n.3270T>C
c.2231T>C (p.Leu744Pro)
c.2276T>C (p.Leu759Pro)
n.2611T>C
c.2273T>C (p.Leu758Pro)
c.2198T>C (p.Leu733Pro)
c.2195T>C (p.Leu732Pro)
c.2183T>C (p.Leu728Pro)
 COSMIC
11g.22274609T>GCA379924160ANO5n.293T>G
c.1826T>G (p.Leu609Arg)
c.2234T>G (p.Leu745Arg)
n.3270T>G
c.2231T>G (p.Leu744Arg)
c.2276T>G (p.Leu759Arg)
n.2611T>G
c.2273T>G (p.Leu758Arg)
c.2198T>G (p.Leu733Arg)
c.2195T>G (p.Leu732Arg)
c.2183T>G (p.Leu728Arg)
11g.22274610A>CCA473408057ANO5n.294A>C
c.1827A>C (p.Leu609=)
c.2235A>C (p.Leu745=)
n.3271A>C
c.2232A>C (p.Leu744=)
c.2277A>C (p.Leu759=)
n.2612A>C
c.2274A>C (p.Leu758=)
c.2199A>C (p.Leu733=)
c.2196A>C (p.Leu732=)
c.2184A>C (p.Leu728=)
11g.22274610A>GCA473408058ANO5n.294A>G
c.1827A>G (p.Leu609=)
c.2235A>G (p.Leu745=)
n.3271A>G
c.2232A>G (p.Leu744=)
c.2277A>G (p.Leu759=)
n.2612A>G
c.2274A>G (p.Leu758=)
c.2199A>G (p.Leu733=)
c.2196A>G (p.Leu732=)
c.2184A>G (p.Leu728=)
11g.22274610A>TCA473408059ANO5n.294A>T
c.1827A>T (p.Leu609=)
c.2235A>T (p.Leu745=)
n.3271A>T
c.2232A>T (p.Leu744=)
c.2277A>T (p.Leu759=)
n.2612A>T
c.2274A>T (p.Leu758=)
c.2199A>T (p.Leu733=)
c.2196A>T (p.Leu732=)
c.2184A>T (p.Leu728=)
11g.22274611G>ACA379924163ANO5n.295G>A
c.1828G>A (p.Val610Ile)
c.2236G>A (p.Val746Ile)
n.3272G>A
c.2233G>A (p.Val745Ile)
c.2278G>A (p.Val760Ile)
n.2613G>A
c.2275G>A (p.Val759Ile)
c.2200G>A (p.Val734Ile)
c.2197G>A (p.Val733Ile)
c.2185G>A (p.Val729Ile)
11g.22274611G>CCA379924162ANO5n.295G>C
c.1828G>C (p.Val610Leu)
c.2236G>C (p.Val746Leu)
n.3272G>C
c.2233G>C (p.Val745Leu)
c.2278G>C (p.Val760Leu)
n.2613G>C
c.2275G>C (p.Val759Leu)
c.2200G>C (p.Val734Leu)
c.2197G>C (p.Val733Leu)
c.2185G>C (p.Val729Leu)
11g.22274611G>TCA379924161ANO5n.295G>T
c.1828G>T (p.Val610Phe)
c.2236G>T (p.Val746Phe)
n.3272G>T
c.2233G>T (p.Val745Phe)
c.2278G>T (p.Val760Phe)
n.2613G>T
c.2275G>T (p.Val759Phe)
c.2200G>T (p.Val734Phe)
c.2197G>T (p.Val733Phe)
c.2185G>T (p.Val729Phe)
11g.22274612T>ACA379924166ANO5n.296T>A
c.1829T>A (p.Val610Asp)
c.2237T>A (p.Val746Asp)
n.3273T>A
c.2234T>A (p.Val745Asp)
c.2279T>A (p.Val760Asp)
n.2614T>A
c.2276T>A (p.Val759Asp)
c.2201T>A (p.Val734Asp)
c.2198T>A (p.Val733Asp)
c.2186T>A (p.Val729Asp)
 ClinVar
11g.22274612T>CCA379924164ANO5n.296T>C
c.1829T>C (p.Val610Ala)
c.2237T>C (p.Val746Ala)
n.3273T>C
c.2234T>C (p.Val745Ala)
c.2279T>C (p.Val760Ala)
n.2614T>C
c.2276T>C (p.Val759Ala)
c.2201T>C (p.Val734Ala)
c.2198T>C (p.Val733Ala)
c.2186T>C (p.Val729Ala)
11g.22274612T>GCA379924165ANO5n.296T>G
c.1829T>G (p.Val610Gly)
c.2237T>G (p.Val746Gly)
n.3273T>G
c.2234T>G (p.Val745Gly)
c.2279T>G (p.Val760Gly)
n.2614T>G
c.2276T>G (p.Val759Gly)
c.2201T>G (p.Val734Gly)
c.2198T>G (p.Val733Gly)
c.2186T>G (p.Val729Gly)
11g.22274613T>ACA473408060ANO5n.297T>A
c.1830T>A (p.Val610=)
c.2238T>A (p.Val746=)
n.3274T>A
c.2235T>A (p.Val745=)
c.2280T>A (p.Val760=)
n.2615T>A
c.2277T>A (p.Val759=)
c.2202T>A (p.Val734=)
c.2199T>A (p.Val733=)
c.2187T>A (p.Val729=)
11g.22274613T>CCA473408061ANO5n.297T>C
c.1830T>C (p.Val610=)
c.2238T>C (p.Val746=)
n.3274T>C
c.2235T>C (p.Val745=)
c.2280T>C (p.Val760=)
n.2615T>C
c.2277T>C (p.Val759=)
c.2202T>C (p.Val734=)
c.2199T>C (p.Val733=)
c.2187T>C (p.Val729=)
11g.22274613T>GCA473408062ANO5n.297T>G
c.1830T>G (p.Val610=)
c.2238T>G (p.Val746=)
n.3274T>G
c.2235T>G (p.Val745=)
c.2280T>G (p.Val760=)
n.2615T>G
c.2277T>G (p.Val759=)
c.2202T>G (p.Val734=)
c.2199T>G (p.Val733=)
c.2187T>G (p.Val729=)
 gnomAD v4
11g.22274614T>ACA379924167ANO5n.298T>A
c.1831T>A (p.Tyr611Asn)
c.2239T>A (p.Tyr747Asn)
n.3275T>A
c.2236T>A (p.Tyr746Asn)
c.2281T>A (p.Tyr761Asn)
n.2616T>A
c.2278T>A (p.Tyr760Asn)
c.2203T>A (p.Tyr735Asn)
c.2200T>A (p.Tyr734Asn)
c.2188T>A (p.Tyr730Asn)
11g.22274614T>CCA379924168ANO5n.298T>C
c.1831T>C (p.Tyr611His)
c.2239T>C (p.Tyr747His)
n.3275T>C
c.2236T>C (p.Tyr746His)
c.2281T>C (p.Tyr761His)
n.2616T>C
c.2278T>C (p.Tyr760His)
c.2203T>C (p.Tyr735His)
c.2200T>C (p.Tyr734His)
c.2188T>C (p.Tyr730His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.22274614T>GCA379924169ANO5n.298T>G
c.1831T>G (p.Tyr611Asp)
c.2239T>G (p.Tyr747Asp)
n.3275T>G
c.2236T>G (p.Tyr746Asp)
c.2281T>G (p.Tyr761Asp)
n.2616T>G
c.2278T>G (p.Tyr760Asp)
c.2203T>G (p.Tyr735Asp)
c.2200T>G (p.Tyr734Asp)
c.2188T>G (p.Tyr730Asp)
11g.22274614T=CA1957406007ANO5n.298T=
c.1831T= (p.Tyr611=)
c.2239T= (p.Tyr747=)
n.3275T=
c.2236T= (p.Tyr746=)
c.2281T= (p.Tyr761=)
n.2616T=
c.2278T= (p.Tyr760=)
c.2203T= (p.Tyr735=)
c.2200T= (p.Tyr734=)
c.2188T= (p.Tyr730=)
11g.22274615A>CCA379924172ANO5n.299A>C
c.1832A>C (p.Tyr611Ser)
c.2240A>C (p.Tyr747Ser)
n.3276A>C
c.2237A>C (p.Tyr746Ser)
c.2282A>C (p.Tyr761Ser)
n.2617A>C
c.2279A>C (p.Tyr760Ser)
c.2204A>C (p.Tyr735Ser)
c.2201A>C (p.Tyr734Ser)
c.2189A>C (p.Tyr730Ser)
11g.22274615A>GCA379924171ANO5n.299A>G
c.1832A>G (p.Tyr611Cys)
c.2240A>G (p.Tyr747Cys)
n.3276A>G
c.2237A>G (p.Tyr746Cys)
c.2282A>G (p.Tyr761Cys)
n.2617A>G
c.2279A>G (p.Tyr760Cys)
c.2204A>G (p.Tyr735Cys)
c.2201A>G (p.Tyr734Cys)
c.2189A>G (p.Tyr730Cys)
11g.22274615A>TCA379924170ANO5n.299A>T
c.1832A>T (p.Tyr611Phe)
c.2240A>T (p.Tyr747Phe)
n.3276A>T
c.2237A>T (p.Tyr746Phe)
c.2282A>T (p.Tyr761Phe)
n.2617A>T
c.2279A>T (p.Tyr760Phe)
c.2204A>T (p.Tyr735Phe)
c.2201A>T (p.Tyr734Phe)
c.2189A>T (p.Tyr730Phe)
11g.22274616C>ACA379924173ANO5n.300C>A
c.1833C>A (p.Tyr611Ter)
c.2241C>A (p.Tyr747Ter)
n.3277C>A
c.2238C>A (p.Tyr746Ter)
c.2283C>A (p.Tyr761Ter)
n.2618C>A
c.2280C>A (p.Tyr760Ter)
c.2205C>A (p.Tyr735Ter)
c.2202C>A (p.Tyr734Ter)
c.2190C>A (p.Tyr730Ter)
11g.22274616C=CA1957406011ANO5n.300C=
c.1833C= (p.Tyr611=)
c.2241C= (p.Tyr747=)
n.3277C=
c.2238C= (p.Tyr746=)
c.2283C= (p.Tyr761=)
n.2618C=
c.2280C= (p.Tyr760=)
c.2205C= (p.Tyr735=)
c.2202C= (p.Tyr734=)
c.2190C= (p.Tyr730=)
11g.22274616C>GCA379924174ANO5n.300C>G
c.1833C>G (p.Tyr611Ter)
c.2241C>G (p.Tyr747Ter)
n.3277C>G
c.2238C>G (p.Tyr746Ter)
c.2283C>G (p.Tyr761Ter)
n.2618C>G
c.2280C>G (p.Tyr760Ter)
c.2205C>G (p.Tyr735Ter)
c.2202C>G (p.Tyr734Ter)
c.2190C>G (p.Tyr730Ter)
11g.22274616C>TCA218777022ANO5n.300C>T
c.1833C>T (p.Tyr611=)
c.2241C>T (p.Tyr747=)
n.3277C>T
c.2238C>T (p.Tyr746=)
c.2283C>T (p.Tyr761=)
n.2618C>T
c.2280C>T (p.Tyr760=)
c.2205C>T (p.Tyr735=)
c.2202C>T (p.Tyr734=)
c.2190C>T (p.Tyr730=)
 ClinVar dbSNP gnomAD v4
11g.22274617T>ACA379924175ANO5n.301T>A
c.1834T>A (p.Tyr612Asn)
c.2242T>A (p.Tyr748Asn)
n.3278T>A
c.2239T>A (p.Tyr747Asn)
c.2284T>A (p.Tyr762Asn)
n.2619T>A
c.2281T>A (p.Tyr761Asn)
c.2206T>A (p.Tyr736Asn)
c.2203T>A (p.Tyr735Asn)
c.2191T>A (p.Tyr731Asn)
 COSMIC
11g.22274617T>CCA379924176ANO5n.301T>C
c.1834T>C (p.Tyr612His)
c.2242T>C (p.Tyr748His)
n.3278T>C
c.2239T>C (p.Tyr747His)
c.2284T>C (p.Tyr762His)
n.2619T>C
c.2281T>C (p.Tyr761His)
c.2206T>C (p.Tyr736His)
c.2203T>C (p.Tyr735His)
c.2191T>C (p.Tyr731His)
11g.22274617T>GCA379924177ANO5n.301T>G
c.1834T>G (p.Tyr612Asp)
c.2242T>G (p.Tyr748Asp)
n.3278T>G
c.2239T>G (p.Tyr747Asp)
c.2284T>G (p.Tyr762Asp)
n.2619T>G
c.2281T>G (p.Tyr761Asp)
c.2206T>G (p.Tyr736Asp)
c.2203T>G (p.Tyr735Asp)
c.2191T>G (p.Tyr731Asp)
11g.22274618A=CA1957406016ANO5n.302A=
c.1835A= (p.Tyr612=)
c.2243A= (p.Tyr748=)
n.3279A=
c.2240A= (p.Tyr747=)
c.2285A= (p.Tyr762=)
n.2620A=
c.2282A= (p.Tyr761=)
c.2207A= (p.Tyr736=)
c.2204A= (p.Tyr735=)
c.2192A= (p.Tyr731=)
11g.22274618A>CCA379924178ANO5n.302A>C
c.1835A>C (p.Tyr612Ser)
c.2243A>C (p.Tyr748Ser)
n.3279A>C
c.2240A>C (p.Tyr747Ser)
c.2285A>C (p.Tyr762Ser)
n.2620A>C
c.2282A>C (p.Tyr761Ser)
c.2207A>C (p.Tyr736Ser)
c.2204A>C (p.Tyr735Ser)
c.2192A>C (p.Tyr731Ser)
 dbSNP gnomAD v4
11g.22274618A>GCA5923516ANO5n.302A>G
c.1835A>G (p.Tyr612Cys)
c.2243A>G (p.Tyr748Cys)
n.3279A>G
c.2240A>G (p.Tyr747Cys)
c.2285A>G (p.Tyr762Cys)
n.2620A>G
c.2282A>G (p.Tyr761Cys)
c.2207A>G (p.Tyr736Cys)
c.2204A>G (p.Tyr735Cys)
c.2192A>G (p.Tyr731Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22274618A>TCA379924179ANO5n.302A>T
c.1835A>T (p.Tyr612Phe)
c.2243A>T (p.Tyr748Phe)
n.3279A>T
c.2240A>T (p.Tyr747Phe)
c.2285A>T (p.Tyr762Phe)
n.2620A>T
c.2282A>T (p.Tyr761Phe)
c.2207A>T (p.Tyr736Phe)
c.2204A>T (p.Tyr735Phe)
c.2192A>T (p.Tyr731Phe)
11g.22274619C>ACA379924180ANO5n.303C>A
c.1836C>A (p.Tyr612Ter)
c.2244C>A (p.Tyr748Ter)
n.3280C>A
c.2241C>A (p.Tyr747Ter)
c.2286C>A (p.Tyr762Ter)
n.2621C>A
c.2283C>A (p.Tyr761Ter)
c.2208C>A (p.Tyr736Ter)
c.2205C>A (p.Tyr735Ter)
c.2193C>A (p.Tyr731Ter)
11g.22274619C>GCA379924181ANO5n.303C>G
c.1836C>G (p.Tyr612Ter)
c.2244C>G (p.Tyr748Ter)
n.3280C>G
c.2241C>G (p.Tyr747Ter)
c.2286C>G (p.Tyr762Ter)
n.2621C>G
c.2283C>G (p.Tyr761Ter)
c.2208C>G (p.Tyr736Ter)
c.2205C>G (p.Tyr735Ter)
c.2193C>G (p.Tyr731Ter)
 ClinVar
11g.22274619C>TCA473408063ANO5n.303C>T
c.1836C>T (p.Tyr612=)
c.2244C>T (p.Tyr748=)
n.3280C>T
c.2241C>T (p.Tyr747=)
c.2286C>T (p.Tyr762=)
n.2621C>T
c.2283C>T (p.Tyr761=)
c.2208C>T (p.Tyr736=)
c.2205C>T (p.Tyr735=)
c.2193C>T (p.Tyr731=)
11g.22274620T>ACA379924182ANO5n.304T>A
c.1837T>A (p.Tyr613Asn)
c.2245T>A (p.Tyr749Asn)
n.3281T>A
c.2242T>A (p.Tyr748Asn)
c.2287T>A (p.Tyr763Asn)
n.2622T>A
c.2284T>A (p.Tyr762Asn)
c.2209T>A (p.Tyr737Asn)
c.2206T>A (p.Tyr736Asn)
c.2194T>A (p.Tyr732Asn)
11g.22274620T>CCA379924183ANO5n.304T>C
c.1837T>C (p.Tyr613His)
c.2245T>C (p.Tyr749His)
n.3281T>C
c.2242T>C (p.Tyr748His)
c.2287T>C (p.Tyr763His)
n.2622T>C
c.2284T>C (p.Tyr762His)
c.2209T>C (p.Tyr737His)
c.2206T>C (p.Tyr736His)
c.2194T>C (p.Tyr732His)
 gnomAD v4
11g.22274620T>GCA379924184ANO5n.304T>G
c.1837T>G (p.Tyr613Asp)
c.2245T>G (p.Tyr749Asp)
n.3281T>G
c.2242T>G (p.Tyr748Asp)
c.2287T>G (p.Tyr763Asp)
n.2622T>G
c.2284T>G (p.Tyr762Asp)
c.2209T>G (p.Tyr737Asp)
c.2206T>G (p.Tyr736Asp)
c.2194T>G (p.Tyr732Asp)
11g.22274621A>CCA379924185ANO5n.305A>C
c.1838A>C (p.Tyr613Ser)
c.2246A>C (p.Tyr749Ser)
n.3282A>C
c.2243A>C (p.Tyr748Ser)
c.2288A>C (p.Tyr763Ser)
n.2623A>C
c.2285A>C (p.Tyr762Ser)
c.2210A>C (p.Tyr737Ser)
c.2207A>C (p.Tyr736Ser)
c.2195A>C (p.Tyr732Ser)
11g.22274621A>GCA379924186ANO5n.305A>G
c.1838A>G (p.Tyr613Cys)
c.2246A>G (p.Tyr749Cys)
n.3282A>G
c.2243A>G (p.Tyr748Cys)
c.2288A>G (p.Tyr763Cys)
n.2623A>G
c.2285A>G (p.Tyr762Cys)
c.2210A>G (p.Tyr737Cys)
c.2207A>G (p.Tyr736Cys)
c.2195A>G (p.Tyr732Cys)
11g.22274621A>TCA379924187ANO5n.305A>T
c.1838A>T (p.Tyr613Phe)
c.2246A>T (p.Tyr749Phe)
n.3282A>T
c.2243A>T (p.Tyr748Phe)
c.2288A>T (p.Tyr763Phe)
n.2623A>T
c.2285A>T (p.Tyr762Phe)
c.2210A>T (p.Tyr737Phe)
c.2207A>T (p.Tyr736Phe)
c.2195A>T (p.Tyr732Phe)
11g.22274622T>ACA379924188ANO5n.306T>A
c.1839T>A (p.Tyr613Ter)
c.2247T>A (p.Tyr749Ter)
n.3283T>A
c.2244T>A (p.Tyr748Ter)
c.2289T>A (p.Tyr763Ter)
n.2624T>A
c.2286T>A (p.Tyr762Ter)
c.2211T>A (p.Tyr737Ter)
c.2208T>A (p.Tyr736Ter)
c.2196T>A (p.Tyr732Ter)
11g.22274622T>CCA5923517ANO5n.306T>C
c.1839T>C (p.Tyr613=)
c.2247T>C (p.Tyr749=)
n.3283T>C
c.2244T>C (p.Tyr748=)
c.2289T>C (p.Tyr763=)
n.2624T>C
c.2286T>C (p.Tyr762=)
c.2211T>C (p.Tyr737=)
c.2208T>C (p.Tyr736=)
c.2196T>C (p.Tyr732=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22274622T>GCA379924189ANO5n.306T>G
c.1839T>G (p.Tyr613Ter)
c.2247T>G (p.Tyr749Ter)
n.3283T>G
c.2244T>G (p.Tyr748Ter)
c.2289T>G (p.Tyr763Ter)
n.2624T>G
c.2286T>G (p.Tyr762Ter)
c.2211T>G (p.Tyr737Ter)
c.2208T>G (p.Tyr736Ter)
c.2196T>G (p.Tyr732Ter)
11g.22274622T=CA1957406019ANO5n.306T=
c.1839T= (p.Tyr613=)
c.2247T= (p.Tyr749=)
n.3283T=
c.2244T= (p.Tyr748=)
c.2289T= (p.Tyr763=)
n.2624T=
c.2286T= (p.Tyr762=)
c.2211T= (p.Tyr737=)
c.2208T= (p.Tyr736=)
c.2196T= (p.Tyr732=)
11g.22274623G>ACA5923518ANO5n.307G>A
c.1840G>A (p.Ala614Thr)
c.2248G>A (p.Ala750Thr)
n.3284G>A
c.2245G>A (p.Ala749Thr)
c.2290G>A (p.Ala764Thr)
n.2625G>A
c.2287G>A (p.Ala763Thr)
c.2212G>A (p.Ala738Thr)
c.2209G>A (p.Ala737Thr)
c.2197G>A (p.Ala733Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22274623G>CCA379924191ANO5n.307G>C
c.1840G>C (p.Ala614Pro)
c.2248G>C (p.Ala750Pro)
n.3284G>C
c.2245G>C (p.Ala749Pro)
c.2290G>C (p.Ala764Pro)
n.2625G>C
c.2287G>C (p.Ala763Pro)
c.2212G>C (p.Ala738Pro)
c.2209G>C (p.Ala737Pro)
c.2197G>C (p.Ala733Pro)
11g.22274623G=CA1957406021ANO5n.307G=
c.1840G= (p.Ala614=)
c.2248G= (p.Ala750=)
n.3284G=
c.2245G= (p.Ala749=)
c.2290G= (p.Ala764=)
n.2625G=
c.2287G= (p.Ala763=)
c.2212G= (p.Ala738=)
c.2209G= (p.Ala737=)
c.2197G= (p.Ala733=)
11g.22274623G>TCA379924190ANO5n.307G>T
c.1840G>T (p.Ala614Ser)
c.2248G>T (p.Ala750Ser)
n.3284G>T
c.2245G>T (p.Ala749Ser)
c.2290G>T (p.Ala764Ser)
n.2625G>T
c.2287G>T (p.Ala763Ser)
c.2212G>T (p.Ala738Ser)
c.2209G>T (p.Ala737Ser)
c.2197G>T (p.Ala733Ser)
 gnomAD v4
11g.22274624C>ACA379924192ANO5n.308C>A
c.1841C>A (p.Ala614Asp)
c.2249C>A (p.Ala750Asp)
n.3285C>A
c.2246C>A (p.Ala749Asp)
c.2291C>A (p.Ala764Asp)
n.2626C>A
c.2288C>A (p.Ala763Asp)
c.2213C>A (p.Ala738Asp)
c.2210C>A (p.Ala737Asp)
c.2198C>A (p.Ala733Asp)
11g.22274624C=CA1957406027ANO5n.308C=
c.1841C= (p.Ala614=)
c.2249C= (p.Ala750=)
n.3285C=
c.2246C= (p.Ala749=)
c.2291C= (p.Ala764=)
n.2626C=
c.2288C= (p.Ala763=)
c.2213C= (p.Ala738=)
c.2210C= (p.Ala737=)
c.2198C= (p.Ala733=)
11g.22274624C>GCA379924193ANO5n.308C>G
c.1841C>G (p.Ala614Gly)
c.2249C>G (p.Ala750Gly)
n.3285C>G
c.2246C>G (p.Ala749Gly)
c.2291C>G (p.Ala764Gly)
n.2626C>G
c.2288C>G (p.Ala763Gly)
c.2213C>G (p.Ala738Gly)
c.2210C>G (p.Ala737Gly)
c.2198C>G (p.Ala733Gly)
11g.22274624C>TCA5923519ANO5n.308C>T
c.1841C>T (p.Ala614Val)
c.2249C>T (p.Ala750Val)
n.3285C>T
c.2246C>T (p.Ala749Val)
c.2291C>T (p.Ala764Val)
n.2626C>T
c.2288C>T (p.Ala763Val)
c.2213C>T (p.Ala738Val)
c.2210C>T (p.Ala737Val)
c.2198C>T (p.Ala733Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22274625T>ACA473408064ANO5n.309T>A
c.1842T>A (p.Ala614=)
c.2250T>A (p.Ala750=)
n.3286T>A
c.2247T>A (p.Ala749=)
c.2292T>A (p.Ala764=)
n.2627T>A
c.2289T>A (p.Ala763=)
c.2214T>A (p.Ala738=)
c.2211T>A (p.Ala737=)
c.2199T>A (p.Ala733=)
11g.22274625T>CCA473408065ANO5n.309T>C
c.1842T>C (p.Ala614=)
c.2250T>C (p.Ala750=)
n.3286T>C
c.2247T>C (p.Ala749=)
c.2292T>C (p.Ala764=)
n.2627T>C
c.2289T>C (p.Ala763=)
c.2214T>C (p.Ala738=)
c.2211T>C (p.Ala737=)
c.2199T>C (p.Ala733=)
11g.22274625T>GCA473408066ANO5n.309T>G
c.1842T>G (p.Ala614=)
c.2250T>G (p.Ala750=)
n.3286T>G
c.2247T>G (p.Ala749=)
c.2292T>G (p.Ala764=)
n.2627T>G
c.2289T>G (p.Ala763=)
c.2214T>G (p.Ala738=)
c.2211T>G (p.Ala737=)
c.2199T>G (p.Ala733=)
11g.22274626T>ACA379924194ANO5n.310T>A
c.1843T>A (p.Tyr615Asn)
c.2251T>A (p.Tyr751Asn)
n.3287T>A
c.2248T>A (p.Tyr750Asn)
c.2293T>A (p.Tyr765Asn)
n.2628T>A
c.2290T>A (p.Tyr764Asn)
c.2215T>A (p.Tyr739Asn)
c.2212T>A (p.Tyr738Asn)
c.2200T>A (p.Tyr734Asn)
11g.22274626T>CCA379924195ANO5n.310T>C
c.1843T>C (p.Tyr615His)
c.2251T>C (p.Tyr751His)
n.3287T>C
c.2248T>C (p.Tyr750His)
c.2293T>C (p.Tyr765His)
n.2628T>C
c.2290T>C (p.Tyr764His)
c.2215T>C (p.Tyr739His)
c.2212T>C (p.Tyr738His)
c.2200T>C (p.Tyr734His)
 gnomAD v4
11g.22274626T>GCA379924196ANO5n.310T>G
c.1843T>G (p.Tyr615Asp)
c.2251T>G (p.Tyr751Asp)
n.3287T>G
c.2248T>G (p.Tyr750Asp)
c.2293T>G (p.Tyr765Asp)
n.2628T>G
c.2290T>G (p.Tyr764Asp)
c.2215T>G (p.Tyr739Asp)
c.2212T>G (p.Tyr738Asp)
c.2200T>G (p.Tyr734Asp)
11g.22274627A=CA1957406031ANO5n.311A=
c.1844A= (p.Tyr615=)
c.2252A= (p.Tyr751=)
n.3288A=
c.2249A= (p.Tyr750=)
c.2294A= (p.Tyr765=)
n.2629A=
c.2291A= (p.Tyr764=)
c.2216A= (p.Tyr739=)
c.2213A= (p.Tyr738=)
c.2201A= (p.Tyr734=)
11g.22274627A>CCA379924197ANO5n.311A>C
c.1844A>C (p.Tyr615Ser)
c.2252A>C (p.Tyr751Ser)
n.3288A>C
c.2249A>C (p.Tyr750Ser)
c.2294A>C (p.Tyr765Ser)
n.2629A>C
c.2291A>C (p.Tyr764Ser)
c.2216A>C (p.Tyr739Ser)
c.2213A>C (p.Tyr738Ser)
c.2201A>C (p.Tyr734Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.22274627A>GCA218777040ANO5n.311A>G
c.1844A>G (p.Tyr615Cys)
c.2252A>G (p.Tyr751Cys)
n.3288A>G
c.2249A>G (p.Tyr750Cys)
c.2294A>G (p.Tyr765Cys)
n.2629A>G
c.2291A>G (p.Tyr764Cys)
c.2216A>G (p.Tyr739Cys)
c.2213A>G (p.Tyr738Cys)
c.2201A>G (p.Tyr734Cys)
 dbSNP
11g.22274627A>TCA379924198ANO5n.311A>T
c.1844A>T (p.Tyr615Phe)
c.2252A>T (p.Tyr751Phe)
n.3288A>T
c.2249A>T (p.Tyr750Phe)
c.2294A>T (p.Tyr765Phe)
n.2629A>T
c.2291A>T (p.Tyr764Phe)
c.2216A>T (p.Tyr739Phe)
c.2213A>T (p.Tyr738Phe)
c.2201A>T (p.Tyr734Phe)
 dbSNP gnomAD v3 gnomAD v4
11g.22274628C>ACA379924199ANO5n.312C>A
c.1845C>A (p.Tyr615Ter)
c.2253C>A (p.Tyr751Ter)
n.3289C>A
c.2250C>A (p.Tyr750Ter)
c.2295C>A (p.Tyr765Ter)
n.2630C>A
c.2292C>A (p.Tyr764Ter)
c.2217C>A (p.Tyr739Ter)
c.2214C>A (p.Tyr738Ter)
c.2202C>A (p.Tyr734Ter)
11g.22274628C>GCA379924200ANO5n.312C>G
c.1845C>G (p.Tyr615Ter)
c.2253C>G (p.Tyr751Ter)
n.3289C>G
c.2250C>G (p.Tyr750Ter)
c.2295C>G (p.Tyr765Ter)
n.2630C>G
c.2292C>G (p.Tyr764Ter)
c.2217C>G (p.Tyr739Ter)
c.2214C>G (p.Tyr738Ter)
c.2202C>G (p.Tyr734Ter)
11g.22274628C>TCA473408067ANO5n.312C>T
c.1845C>T (p.Tyr615=)
c.2253C>T (p.Tyr751=)
n.3289C>T
c.2250C>T (p.Tyr750=)
c.2295C>T (p.Tyr765=)
n.2630C>T
c.2292C>T (p.Tyr764=)
c.2217C>T (p.Tyr739=)
c.2214C>T (p.Tyr738=)
c.2202C>T (p.Tyr734=)
 gnomAD v4
11g.22274629T>ACA379924201ANO5n.313T>A
c.1846T>A (p.Ser616Thr)
c.2254T>A (p.Ser752Thr)
n.3290T>A
c.2251T>A (p.Ser751Thr)
c.2296T>A (p.Ser766Thr)
n.2631T>A
c.2293T>A (p.Ser765Thr)
c.2218T>A (p.Ser740Thr)
c.2215T>A (p.Ser739Thr)
c.2203T>A (p.Ser735Thr)
 ClinVar dbSNP
11g.22274629T>CCA379924202ANO5n.313T>C
c.1846T>C (p.Ser616Pro)
c.2254T>C (p.Ser752Pro)
n.3290T>C
c.2251T>C (p.Ser751Pro)
c.2296T>C (p.Ser766Pro)
n.2631T>C
c.2293T>C (p.Ser765Pro)
c.2218T>C (p.Ser740Pro)
c.2215T>C (p.Ser739Pro)
c.2203T>C (p.Ser735Pro)
11g.22274629T>GCA379924203ANO5n.313T>G
c.1846T>G (p.Ser616Ala)
c.2254T>G (p.Ser752Ala)
n.3290T>G
c.2251T>G (p.Ser751Ala)
c.2296T>G (p.Ser766Ala)
n.2631T>G
c.2293T>G (p.Ser765Ala)
c.2218T>G (p.Ser740Ala)
c.2215T>G (p.Ser739Ala)
c.2203T>G (p.Ser735Ala)
11g.22274629T=CA1957406033ANO5n.313T=
c.1846T= (p.Ser616=)
c.2254T= (p.Ser752=)
n.3290T=
c.2251T= (p.Ser751=)
c.2296T= (p.Ser766=)
n.2631T=
c.2293T= (p.Ser765=)
c.2218T= (p.Ser740=)
c.2215T= (p.Ser739=)
c.2203T= (p.Ser735=)
11g.22274630C>ACA379924206ANO5n.314C>A
c.1847C>A (p.Ser616Ter)
c.2255C>A (p.Ser752Ter)
n.3291C>A
c.2252C>A (p.Ser751Ter)
c.2297C>A (p.Ser766Ter)
n.2632C>A
c.2294C>A (p.Ser765Ter)
c.2219C>A (p.Ser740Ter)
c.2216C>A (p.Ser739Ter)
c.2204C>A (p.Ser735Ter)
11g.22274630C>GCA379924205ANO5n.314C>G
c.1847C>G (p.Ser616Ter)
c.2255C>G (p.Ser752Ter)
n.3291C>G
c.2252C>G (p.Ser751Ter)
c.2297C>G (p.Ser766Ter)
n.2632C>G
c.2294C>G (p.Ser765Ter)
c.2219C>G (p.Ser740Ter)
c.2216C>G (p.Ser739Ter)
c.2204C>G (p.Ser735Ter)
11g.22274630C>TCA379924204ANO5n.314C>T
c.1847C>T (p.Ser616Leu)
c.2255C>T (p.Ser752Leu)
n.3291C>T
c.2252C>T (p.Ser751Leu)
c.2297C>T (p.Ser766Leu)
n.2632C>T
c.2294C>T (p.Ser765Leu)
c.2219C>T (p.Ser740Leu)
c.2216C>T (p.Ser739Leu)
c.2204C>T (p.Ser735Leu)
11g.22274631A>CCA473408070ANO5n.315A>C
c.1848A>C (p.Ser616=)
c.2256A>C (p.Ser752=)
n.3292A>C
c.2253A>C (p.Ser751=)
c.2298A>C (p.Ser766=)
n.2633A>C
c.2295A>C (p.Ser765=)
c.2220A>C (p.Ser740=)
c.2217A>C (p.Ser739=)
c.2205A>C (p.Ser735=)
11g.22274631A>GCA473408069ANO5n.315A>G
c.1848A>G (p.Ser616=)
c.2256A>G (p.Ser752=)
n.3292A>G
c.2253A>G (p.Ser751=)
c.2298A>G (p.Ser766=)
n.2633A>G
c.2295A>G (p.Ser765=)
c.2220A>G (p.Ser740=)
c.2217A>G (p.Ser739=)
c.2205A>G (p.Ser735=)
11g.22274631A>TCA473408068ANO5n.315A>T
c.1848A>T (p.Ser616=)
c.2256A>T (p.Ser752=)
n.3292A>T
c.2253A>T (p.Ser751=)
c.2298A>T (p.Ser766=)
n.2633A>T
c.2295A>T (p.Ser765=)
c.2220A>T (p.Ser740=)
c.2217A>T (p.Ser739=)
c.2205A>T (p.Ser735=)
11g.22274632A>CCA379924207ANO5n.316A>C
c.1849A>C (p.Thr617Pro)
c.2257A>C (p.Thr753Pro)
n.3293A>C
c.2254A>C (p.Thr752Pro)
c.2299A>C (p.Thr767Pro)
n.2634A>C
c.2296A>C (p.Thr766Pro)
c.2221A>C (p.Thr741Pro)
c.2218A>C (p.Thr740Pro)
c.2206A>C (p.Thr736Pro)
11g.22274632A>GCA379924208ANO5n.316A>G
c.1849A>G (p.Thr617Ala)
c.2257A>G (p.Thr753Ala)
n.3293A>G
c.2254A>G (p.Thr752Ala)
c.2299A>G (p.Thr767Ala)
n.2634A>G
c.2296A>G (p.Thr766Ala)
c.2221A>G (p.Thr741Ala)
c.2218A>G (p.Thr740Ala)
c.2206A>G (p.Thr736Ala)
11g.22274632A>TCA379924209ANO5n.316A>T
c.1849A>T (p.Thr617Ser)
c.2257A>T (p.Thr753Ser)
n.3293A>T
c.2254A>T (p.Thr752Ser)
c.2299A>T (p.Thr767Ser)
n.2634A>T
c.2296A>T (p.Thr766Ser)
c.2221A>T (p.Thr741Ser)
c.2218A>T (p.Thr740Ser)
c.2206A>T (p.Thr736Ser)
11g.22274633C>ACA379924210ANO5n.317C>A
c.1850C>A (p.Thr617Lys)
c.2258C>A (p.Thr753Lys)
n.3294C>A
c.2255C>A (p.Thr752Lys)
c.2300C>A (p.Thr767Lys)
n.2635C>A
c.2297C>A (p.Thr766Lys)
c.2222C>A (p.Thr741Lys)
c.2219C>A (p.Thr740Lys)
c.2207C>A (p.Thr736Lys)
11g.22274633C>GCA379924211ANO5n.317C>G
c.1850C>G (p.Thr617Arg)
c.2258C>G (p.Thr753Arg)
n.3294C>G
c.2255C>G (p.Thr752Arg)
c.2300C>G (p.Thr767Arg)
n.2635C>G
c.2297C>G (p.Thr766Arg)
c.2222C>G (p.Thr741Arg)
c.2219C>G (p.Thr740Arg)
c.2207C>G (p.Thr736Arg)
11g.22274633C>TCA379924212ANO5n.317C>T
c.1850C>T (p.Thr617Ile)
c.2258C>T (p.Thr753Ile)
n.3294C>T
c.2255C>T (p.Thr752Ile)
c.2300C>T (p.Thr767Ile)
n.2635C>T
c.2297C>T (p.Thr766Ile)
c.2222C>T (p.Thr741Ile)
c.2219C>T (p.Thr740Ile)
c.2207C>T (p.Thr736Ile)
11g.22274634A>CCA473408073ANO5n.318A>C
c.1851A>C (p.Thr617=)
c.2259A>C (p.Thr753=)
n.3295A>C
c.2256A>C (p.Thr752=)
c.2301A>C (p.Thr767=)
n.2636A>C
c.2298A>C (p.Thr766=)
c.2223A>C (p.Thr741=)
c.2220A>C (p.Thr740=)
c.2208A>C (p.Thr736=)
11g.22274634A>GCA473408071ANO5n.318A>G
c.1851A>G (p.Thr617=)
c.2259A>G (p.Thr753=)
n.3295A>G
c.2256A>G (p.Thr752=)
c.2301A>G (p.Thr767=)
n.2636A>G
c.2298A>G (p.Thr766=)
c.2223A>G (p.Thr741=)
c.2220A>G (p.Thr740=)
c.2208A>G (p.Thr736=)
11g.22274634A>TCA473408072ANO5n.318A>T
c.1851A>T (p.Thr617=)
c.2259A>T (p.Thr753=)
n.3295A>T
c.2256A>T (p.Thr752=)
c.2301A>T (p.Thr767=)
n.2636A>T
c.2298A>T (p.Thr766=)
c.2223A>T (p.Thr741=)
c.2220A>T (p.Thr740=)
c.2208A>T (p.Thr736=)
11g.22274635A>CCA379924213ANO5n.319A>C
c.1852A>C (p.Asn618His)
c.2260A>C (p.Asn754His)
n.3296A>C
c.2257A>C (p.Asn753His)
c.2302A>C (p.Asn768His)
n.2637A>C
c.2299A>C (p.Asn767His)
c.2224A>C (p.Asn742His)
c.2221A>C (p.Asn741His)
c.2209A>C (p.Asn737His)
11g.22274635A>GCA379924214ANO5n.319A>G
c.1852A>G (p.Asn618Asp)
c.2260A>G (p.Asn754Asp)
n.3296A>G
c.2257A>G (p.Asn753Asp)
c.2302A>G (p.Asn768Asp)
n.2637A>G
c.2299A>G (p.Asn767Asp)
c.2224A>G (p.Asn742Asp)
c.2221A>G (p.Asn741Asp)
c.2209A>G (p.Asn737Asp)
11g.22274635A>TCA379924215ANO5n.319A>T
c.1852A>T (p.Asn618Tyr)
c.2260A>T (p.Asn754Tyr)
n.3296A>T
c.2257A>T (p.Asn753Tyr)
c.2302A>T (p.Asn768Tyr)
n.2637A>T
c.2299A>T (p.Asn767Tyr)
c.2224A>T (p.Asn742Tyr)
c.2221A>T (p.Asn741Tyr)
c.2209A>T (p.Asn737Tyr)
11g.22274636A>CCA379924216ANO5n.320A>C
c.1853A>C (p.Asn618Thr)
c.2261A>C (p.Asn754Thr)
n.3297A>C
c.2258A>C (p.Asn753Thr)
c.2303A>C (p.Asn768Thr)
n.2638A>C
c.2300A>C (p.Asn767Thr)
c.2225A>C (p.Asn742Thr)
c.2222A>C (p.Asn741Thr)
c.2210A>C (p.Asn737Thr)
11g.22274636A>GCA379924217ANO5n.320A>G
c.1853A>G (p.Asn618Ser)
c.2261A>G (p.Asn754Ser)
n.3297A>G
c.2258A>G (p.Asn753Ser)
c.2303A>G (p.Asn768Ser)
n.2638A>G
c.2300A>G (p.Asn767Ser)
c.2225A>G (p.Asn742Ser)
c.2222A>G (p.Asn741Ser)
c.2210A>G (p.Asn737Ser)
11g.22274636A>TCA379924218ANO5n.320A>T
c.1853A>T (p.Asn618Ile)
c.2261A>T (p.Asn754Ile)
n.3297A>T
c.2258A>T (p.Asn753Ile)
c.2303A>T (p.Asn768Ile)
n.2638A>T
c.2300A>T (p.Asn767Ile)
c.2225A>T (p.Asn742Ile)
c.2222A>T (p.Asn741Ile)
c.2210A>T (p.Asn737Ile)
11g.22274637T>ACA379924219ANO5n.321T>A
c.1854T>A (p.Asn618Lys)
c.2262T>A (p.Asn754Lys)
n.3298T>A
c.2259T>A (p.Asn753Lys)
c.2304T>A (p.Asn768Lys)
n.2639T>A
c.2301T>A (p.Asn767Lys)
c.2226T>A (p.Asn742Lys)
c.2223T>A (p.Asn741Lys)
c.2211T>A (p.Asn737Lys)
11g.22274637T>CCA473408074ANO5n.321T>C
c.1854T>C (p.Asn618=)
c.2262T>C (p.Asn754=)
n.3298T>C
c.2259T>C (p.Asn753=)
c.2304T>C (p.Asn768=)
n.2639T>C
c.2301T>C (p.Asn767=)
c.2226T>C (p.Asn742=)
c.2223T>C (p.Asn741=)
c.2211T>C (p.Asn737=)
11g.22274637T>GCA379924220ANO5n.321T>G
c.1854T>G (p.Asn618Lys)
c.2262T>G (p.Asn754Lys)
n.3298T>G
c.2259T>G (p.Asn753Lys)
c.2304T>G (p.Asn768Lys)
n.2639T>G
c.2301T>G (p.Asn767Lys)
c.2226T>G (p.Asn742Lys)
c.2223T>G (p.Asn741Lys)
c.2211T>G (p.Asn737Lys)
11g.22274638G>ACA379924221ANO5n.322G>A
c.1855G>A (p.Ala619Thr)
c.2263G>A (p.Ala755Thr)
n.3299G>A
c.2260G>A (p.Ala754Thr)
c.2305G>A (p.Ala769Thr)
n.2640G>A
c.2302G>A (p.Ala768Thr)
c.2227G>A (p.Ala743Thr)
c.2224G>A (p.Ala742Thr)
c.2212G>A (p.Ala738Thr)
11g.22274638G>CCA379924222ANO5n.322G>C
c.1855G>C (p.Ala619Pro)
c.2263G>C (p.Ala755Pro)
n.3299G>C
c.2260G>C (p.Ala754Pro)
c.2305G>C (p.Ala769Pro)
n.2640G>C
c.2302G>C (p.Ala768Pro)
c.2227G>C (p.Ala743Pro)
c.2224G>C (p.Ala742Pro)
c.2212G>C (p.Ala738Pro)
11g.22274638G>TCA379924223ANO5n.322G>T
c.1855G>T (p.Ala619Ser)
c.2263G>T (p.Ala755Ser)
n.3299G>T
c.2260G>T (p.Ala754Ser)
c.2305G>T (p.Ala769Ser)
n.2640G>T
c.2302G>T (p.Ala768Ser)
c.2227G>T (p.Ala743Ser)
c.2224G>T (p.Ala742Ser)
c.2212G>T (p.Ala738Ser)
11g.22274639C>ACA379924224ANO5n.323C>A
c.1856C>A (p.Ala619Asp)
c.2264C>A (p.Ala755Asp)
n.3300C>A
c.2261C>A (p.Ala754Asp)
c.2306C>A (p.Ala769Asp)
n.2641C>A
c.2303C>A (p.Ala768Asp)
c.2228C>A (p.Ala743Asp)
c.2225C>A (p.Ala742Asp)
c.2213C>A (p.Ala738Asp)
11g.22274639C=CA1957406044ANO5n.323C=
c.1856C= (p.Ala619=)
c.2264C= (p.Ala755=)
n.3300C=
c.2261C= (p.Ala754=)
c.2306C= (p.Ala769=)
n.2641C=
c.2303C= (p.Ala768=)
c.2228C= (p.Ala743=)
c.2225C= (p.Ala742=)
c.2213C= (p.Ala738=)
11g.22274639C>GCA5923521ANO5n.323C>G
c.1856C>G (p.Ala619Gly)
c.2264C>G (p.Ala755Gly)
n.3300C>G
c.2261C>G (p.Ala754Gly)
c.2306C>G (p.Ala769Gly)
n.2641C>G
c.2303C>G (p.Ala768Gly)
c.2228C>G (p.Ala743Gly)
c.2225C>G (p.Ala742Gly)
c.2213C>G (p.Ala738Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22274639C>TCA5923520ANO5n.323C>T
c.1856C>T (p.Ala619Val)
c.2264C>T (p.Ala755Val)
n.3300C>T
c.2261C>T (p.Ala754Val)
c.2306C>T (p.Ala769Val)
n.2641C>T
c.2303C>T (p.Ala768Val)
c.2228C>T (p.Ala743Val)
c.2225C>T (p.Ala742Val)
c.2213C>T (p.Ala738Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22274639_22274641delinsCCACA1957406039ANO5n.323_325delinsCCA
c.1856_1858delinsCCA (p.Ala619=)
c.2264_2266delinsCCA (p.Ala755=)
n.3300_3302delinsCCA
c.2261_2263delinsCCA (p.Ala754=)
c.2306_2308delinsCCA (p.Ala769=)
n.2641_2643delinsCCA
c.2303_2305delinsCCA (p.Ala768=)
c.2228_2230delinsCCA (p.Ala743=)
c.2225_2227delinsCCA (p.Ala742=)
c.2213_2215delinsCCA (p.Ala738=)
11g.22274640C>ACA473408077ANO5n.324C>A
c.1857C>A (p.Ala619=)
c.2265C>A (p.Ala755=)
n.3301C>A
c.2262C>A (p.Ala754=)
c.2307C>A (p.Ala769=)
n.2642C>A
c.2304C>A (p.Ala768=)
c.2229C>A (p.Ala743=)
c.2226C>A (p.Ala742=)
c.2214C>A (p.Ala738=)
11g.22274640C=CA1957406049ANO5n.324C=
c.1857C= (p.Ala619=)
c.2265C= (p.Ala755=)
n.3301C=
c.2262C= (p.Ala754=)
c.2307C= (p.Ala769=)
n.2642C=
c.2304C= (p.Ala768=)
c.2229C= (p.Ala743=)
c.2226C= (p.Ala742=)
c.2214C= (p.Ala738=)
11g.22274640C>GCA473408075ANO5n.324C>G
c.1857C>G (p.Ala619=)
c.2265C>G (p.Ala755=)
n.3301C>G
c.2262C>G (p.Ala754=)
c.2307C>G (p.Ala769=)
n.2642C>G
c.2304C>G (p.Ala768=)
c.2229C>G (p.Ala743=)
c.2226C>G (p.Ala742=)
c.2214C>G (p.Ala738=)
11g.22274640C>TCA473408076ANO5n.324C>T
c.1857C>T (p.Ala619=)
c.2265C>T (p.Ala755=)
n.3301C>T
c.2262C>T (p.Ala754=)
c.2307C>T (p.Ala769=)
n.2642C>T
c.2304C>T (p.Ala768=)
c.2229C>T (p.Ala743=)
c.2226C>T (p.Ala742=)
c.2214C>T (p.Ala738=)
 dbSNP
11g.22274644_22274645delCA232793ANO5n.328_329del
c.1861_1862del (p.Gln621AlafsTer8)
c.2269_2270del (p.Gln757AlafsTer8)
n.3305_3306del
c.2266_2267del (p.Gln756AlafsTer8)
c.2311_2312del (p.Gln771AlafsTer8)
n.2646_2647del
c.2308_2309del (p.Gln770AlafsTer8)
c.2233_2234del (p.Gln745AlafsTer8)
c.2230_2231del (p.Gln744AlafsTer8)
c.2218_2219del (p.Gln740AlafsTer8)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22274641A>CCA379924225ANO5n.325A>C
c.1858A>C (p.Thr620Pro)
c.2266A>C (p.Thr756Pro)
n.3302A>C
c.2263A>C (p.Thr755Pro)
c.2308A>C (p.Thr770Pro)
n.2643A>C
c.2305A>C (p.Thr769Pro)
c.2230A>C (p.Thr744Pro)
c.2227A>C (p.Thr743Pro)
c.2215A>C (p.Thr739Pro)
11g.22274641A>GCA379924226ANO5n.325A>G
c.1858A>G (p.Thr620Ala)
c.2266A>G (p.Thr756Ala)
n.3302A>G
c.2263A>G (p.Thr755Ala)
c.2308A>G (p.Thr770Ala)
n.2643A>G
c.2305A>G (p.Thr769Ala)
c.2230A>G (p.Thr744Ala)
c.2227A>G (p.Thr743Ala)
c.2215A>G (p.Thr739Ala)
11g.22274641A>TCA379924227ANO5n.325A>T
c.1858A>T (p.Thr620Ser)
c.2266A>T (p.Thr756Ser)
n.3302A>T
c.2263A>T (p.Thr755Ser)
c.2308A>T (p.Thr770Ser)
n.2643A>T
c.2305A>T (p.Thr769Ser)
c.2230A>T (p.Thr744Ser)
c.2227A>T (p.Thr743Ser)
c.2215A>T (p.Thr739Ser)
11g.22274642C>ACA379924228ANO5n.326C>A
c.1859C>A (p.Thr620Lys)
c.2267C>A (p.Thr756Lys)
n.3303C>A
c.2264C>A (p.Thr755Lys)
c.2309C>A (p.Thr770Lys)
n.2644C>A
c.2306C>A (p.Thr769Lys)
c.2231C>A (p.Thr744Lys)
c.2228C>A (p.Thr743Lys)
c.2216C>A (p.Thr739Lys)
11g.22274642C=CA1957406054ANO5n.326C=
c.1859C= (p.Thr620=)
c.2267C= (p.Thr756=)
n.3303C=
c.2264C= (p.Thr755=)
c.2309C= (p.Thr770=)
n.2644C=
c.2306C= (p.Thr769=)
c.2231C= (p.Thr744=)
c.2228C= (p.Thr743=)
c.2216C= (p.Thr739=)
11g.22274642C>GCA379924229ANO5n.326C>G
c.1859C>G (p.Thr620Arg)
c.2267C>G (p.Thr756Arg)
n.3303C>G
c.2264C>G (p.Thr755Arg)
c.2309C>G (p.Thr770Arg)
n.2644C>G
c.2306C>G (p.Thr769Arg)
c.2231C>G (p.Thr744Arg)
c.2228C>G (p.Thr743Arg)
c.2216C>G (p.Thr739Arg)
11g.22274642C>TCA218777056ANO5n.326C>T
c.1859C>T (p.Thr620Ile)
c.2267C>T (p.Thr756Ile)
n.3303C>T
c.2264C>T (p.Thr755Ile)
c.2309C>T (p.Thr770Ile)
n.2644C>T
c.2306C>T (p.Thr769Ile)
c.2231C>T (p.Thr744Ile)
c.2228C>T (p.Thr743Ile)
c.2216C>T (p.Thr739Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.22274642_22274643delinsCACA1957406056ANO5n.326_327delinsCA
c.1859_1860delinsCA (p.Thr620=)
c.2267_2268delinsCA (p.Thr756=)
n.3303_3304delinsCA
c.2264_2265delinsCA (p.Thr755=)
c.2309_2310delinsCA (p.Thr770=)
n.2644_2645delinsCA
c.2306_2307delinsCA (p.Thr769=)
c.2231_2232delinsCA (p.Thr744=)
c.2228_2229delinsCA (p.Thr743=)
c.2216_2217delinsCA (p.Thr739=)
11g.22274643delCA935872132ANO5n.327del
c.1860del (p.Gln621SerfsTer3)
c.2268del (p.Gln757SerfsTer3)
n.3304del
c.2265del (p.Gln756SerfsTer3)
c.2310del (p.Gln771SerfsTer3)
n.2645del
c.2307del (p.Gln770SerfsTer3)
c.2232del (p.Gln745SerfsTer3)
c.2229del (p.Gln744SerfsTer3)
c.2217del (p.Gln740SerfsTer3)
 dbSNP gnomAD v3 gnomAD v4
11g.22274643A=CA1957406059ANO5n.327A=
c.1860A= (p.Thr620=)
c.2268A= (p.Thr756=)
n.3304A=
c.2265A= (p.Thr755=)
c.2310A= (p.Thr770=)
n.2645A=
c.2307A= (p.Thr769=)
c.2232A= (p.Thr744=)
c.2229A= (p.Thr743=)
c.2217A= (p.Thr739=)
11g.22274643A>CCA473408078ANO5n.327A>C
c.1860A>C (p.Thr620=)
c.2268A>C (p.Thr756=)
n.3304A>C
c.2265A>C (p.Thr755=)
c.2310A>C (p.Thr770=)
n.2645A>C
c.2307A>C (p.Thr769=)
c.2232A>C (p.Thr744=)
c.2229A>C (p.Thr743=)
c.2217A>C (p.Thr739=)
11g.22274643A>GCA473408079ANO5n.327A>G
c.1860A>G (p.Thr620=)
c.2268A>G (p.Thr756=)
n.3304A>G
c.2265A>G (p.Thr755=)
c.2310A>G (p.Thr770=)
n.2645A>G
c.2307A>G (p.Thr769=)
c.2232A>G (p.Thr744=)
c.2229A>G (p.Thr743=)
c.2217A>G (p.Thr739=)
 dbSNP COSMIC
11g.22274643A>TCA473408080ANO5n.327A>T
c.1860A>T (p.Thr620=)
c.2268A>T (p.Thr756=)
n.3304A>T
c.2265A>T (p.Thr755=)
c.2310A>T (p.Thr770=)
n.2645A>T
c.2307A>T (p.Thr769=)
c.2232A>T (p.Thr744=)
c.2229A>T (p.Thr743=)
c.2217A>T (p.Thr739=)
11g.22274644C>ACA379924232ANO5n.328C>A
c.1861C>A (p.Gln621Lys)
c.2269C>A (p.Gln757Lys)
n.3305C>A
c.2266C>A (p.Gln756Lys)
c.2311C>A (p.Gln771Lys)
n.2646C>A
c.2308C>A (p.Gln770Lys)
c.2233C>A (p.Gln745Lys)
c.2230C>A (p.Gln744Lys)
c.2218C>A (p.Gln740Lys)
11g.22274644C>GCA379924230ANO5n.328C>G
c.1861C>G (p.Gln621Glu)
c.2269C>G (p.Gln757Glu)
n.3305C>G
c.2266C>G (p.Gln756Glu)
c.2311C>G (p.Gln771Glu)
n.2646C>G
c.2308C>G (p.Gln770Glu)
c.2233C>G (p.Gln745Glu)
c.2230C>G (p.Gln744Glu)
c.2218C>G (p.Gln740Glu)
11g.22274644C>TCA379924231ANO5n.328C>T
c.1861C>T (p.Gln621Ter)
c.2269C>T (p.Gln757Ter)
n.3305C>T
c.2266C>T (p.Gln756Ter)
c.2311C>T (p.Gln771Ter)
n.2646C>T
c.2308C>T (p.Gln770Ter)
c.2233C>T (p.Gln745Ter)
c.2230C>T (p.Gln744Ter)
c.2218C>T (p.Gln740Ter)
11g.22274645A>CCA379924233ANO5n.329A>C
c.1862A>C (p.Gln621Pro)
c.2270A>C (p.Gln757Pro)
n.3306A>C
c.2267A>C (p.Gln756Pro)
c.2312A>C (p.Gln771Pro)
n.2647A>C
c.2309A>C (p.Gln770Pro)
c.2234A>C (p.Gln745Pro)
c.2231A>C (p.Gln744Pro)
c.2219A>C (p.Gln740Pro)
11g.22274645A>GCA379924234ANO5n.329A>G
c.1862A>G (p.Gln621Arg)
c.2270A>G (p.Gln757Arg)
n.3306A>G
c.2267A>G (p.Gln756Arg)
c.2312A>G (p.Gln771Arg)
n.2647A>G
c.2309A>G (p.Gln770Arg)
c.2234A>G (p.Gln745Arg)
c.2231A>G (p.Gln744Arg)
c.2219A>G (p.Gln740Arg)
11g.22274645A>TCA379924235ANO5n.329A>T
c.1862A>T (p.Gln621Leu)
c.2270A>T (p.Gln757Leu)
n.3306A>T
c.2267A>T (p.Gln756Leu)
c.2312A>T (p.Gln771Leu)
n.2647A>T
c.2309A>T (p.Gln770Leu)
c.2234A>T (p.Gln745Leu)
c.2231A>T (p.Gln744Leu)
c.2219A>T (p.Gln740Leu)
11g.22274646G>ACA473408081ANO5n.330G>A
c.1863G>A (p.Gln621=)
c.2271G>A (p.Gln757=)
n.3307G>A
c.2268G>A (p.Gln756=)
c.2313G>A (p.Gln771=)
n.2648G>A
c.2310G>A (p.Gln770=)
c.2235G>A (p.Gln745=)
c.2232G>A (p.Gln744=)
c.2220G>A (p.Gln740=)
11g.22274646G>CCA379924236ANO5n.330G>C
c.1863G>C (p.Gln621His)
c.2271G>C (p.Gln757His)
n.3307G>C
c.2268G>C (p.Gln756His)
c.2313G>C (p.Gln771His)
n.2648G>C
c.2310G>C (p.Gln770His)
c.2235G>C (p.Gln745His)
c.2232G>C (p.Gln744His)
c.2220G>C (p.Gln740His)
11g.22274646G>TCA379924237ANO5n.330G>T
c.1863G>T (p.Gln621His)
c.2271G>T (p.Gln757His)
n.3307G>T
c.2268G>T (p.Gln756His)
c.2313G>T (p.Gln771His)
n.2648G>T
c.2310G>T (p.Gln770His)
c.2235G>T (p.Gln745His)
c.2232G>T (p.Gln744His)
c.2220G>T (p.Gln740His)
11g.22274647C>ACA379924238ANO5n.331C>A
c.1864C>A (p.Pro622Thr)
c.2272C>A (p.Pro758Thr)
n.3308C>A
c.2269C>A (p.Pro757Thr)
c.2314C>A (p.Pro772Thr)
n.2649C>A
c.2311C>A (p.Pro771Thr)
c.2236C>A (p.Pro746Thr)
c.2233C>A (p.Pro745Thr)
c.2221C>A (p.Pro741Thr)
11g.22274647C>GCA379924239ANO5n.331C>G
c.1864C>G (p.Pro622Ala)
c.2272C>G (p.Pro758Ala)
n.3308C>G
c.2269C>G (p.Pro757Ala)
c.2314C>G (p.Pro772Ala)
n.2649C>G
c.2311C>G (p.Pro771Ala)
c.2236C>G (p.Pro746Ala)
c.2233C>G (p.Pro745Ala)
c.2221C>G (p.Pro741Ala)
11g.22274647C>TCA379924240ANO5n.331C>T
c.1864C>T (p.Pro622Ser)
c.2272C>T (p.Pro758Ser)
n.3308C>T
c.2269C>T (p.Pro757Ser)
c.2314C>T (p.Pro772Ser)
n.2649C>T
c.2311C>T (p.Pro771Ser)
c.2236C>T (p.Pro746Ser)
c.2233C>T (p.Pro745Ser)
c.2221C>T (p.Pro741Ser)
11g.22274648C>ACA379924241ANO5n.332C>A
c.1865C>A (p.Pro622His)
c.2273C>A (p.Pro758His)
n.3309C>A
c.2270C>A (p.Pro757His)
c.2315C>A (p.Pro772His)
n.2650C>A
c.2312C>A (p.Pro771His)
c.2237C>A (p.Pro746His)
c.2234C>A (p.Pro745His)
c.2222C>A (p.Pro741His)
11g.22274648C=CA1957406061ANO5n.332C=
c.1865C= (p.Pro622=)
c.2273C= (p.Pro758=)
n.3309C=
c.2270C= (p.Pro757=)
c.2315C= (p.Pro772=)
n.2650C=
c.2312C= (p.Pro771=)
c.2237C= (p.Pro746=)
c.2234C= (p.Pro745=)
c.2222C= (p.Pro741=)
11g.22274648C>GCA379924242ANO5n.332C>G
c.1865C>G (p.Pro622Arg)
c.2273C>G (p.Pro758Arg)
n.3309C>G
c.2270C>G (p.Pro757Arg)
c.2315C>G (p.Pro772Arg)
n.2650C>G
c.2312C>G (p.Pro771Arg)
c.2237C>G (p.Pro746Arg)
c.2234C>G (p.Pro745Arg)
c.2222C>G (p.Pro741Arg)
11g.22274648C>TCA5923522ANO5n.332C>T
c.1865C>T (p.Pro622Leu)
c.2273C>T (p.Pro758Leu)
n.3309C>T
c.2270C>T (p.Pro757Leu)
c.2315C>T (p.Pro772Leu)
n.2650C>T
c.2312C>T (p.Pro771Leu)
c.2237C>T (p.Pro746Leu)
c.2234C>T (p.Pro745Leu)
c.2222C>T (p.Pro741Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22274649T>ACA473408084ANO5n.333T>A
c.1866T>A (p.Pro622=)
c.2274T>A (p.Pro758=)
n.3310T>A
c.2271T>A (p.Pro757=)
c.2316T>A (p.Pro772=)
n.2651T>A
c.2313T>A (p.Pro771=)
c.2238T>A (p.Pro746=)
c.2235T>A (p.Pro745=)
c.2223T>A (p.Pro741=)
 dbSNP
11g.22274649T>CCA473408086ANO5n.333T>C
c.1866T>C (p.Pro622=)
c.2274T>C (p.Pro758=)
n.3310T>C
c.2271T>C (p.Pro757=)
c.2316T>C (p.Pro772=)
n.2651T>C
c.2313T>C (p.Pro771=)
c.2238T>C (p.Pro746=)
c.2235T>C (p.Pro745=)
c.2223T>C (p.Pro741=)
 dbSNP gnomAD v2 gnomAD v4
11g.22274649T>GCA473408085ANO5n.333T>G
c.1866T>G (p.Pro622=)
c.2274T>G (p.Pro758=)
n.3310T>G
c.2271T>G (p.Pro757=)
c.2316T>G (p.Pro772=)
n.2651T>G
c.2313T>G (p.Pro771=)
c.2238T>G (p.Pro746=)
c.2235T>G (p.Pro745=)
c.2223T>G (p.Pro741=)
 gnomAD v4
11g.22274649T=CA1957406063ANO5n.333T=
c.1866T= (p.Pro622=)
c.2274T= (p.Pro758=)
n.3310T=
c.2271T= (p.Pro757=)
c.2316T= (p.Pro772=)
n.2651T=
c.2313T= (p.Pro771=)
c.2238T= (p.Pro746=)
c.2235T= (p.Pro745=)
c.2223T= (p.Pro741=)
11g.22274650A=CA1957406071ANO5n.334A=
c.1867A= (p.Met623=)
c.2275A= (p.Met759=)
n.3311A=
c.2272A= (p.Met758=)
c.2317A= (p.Met773=)
n.2652A=
c.2314A= (p.Met772=)
c.2239A= (p.Met747=)
c.2236A= (p.Met746=)
c.2224A= (p.Met742=)
11g.22274650A>CCA379924244ANO5n.334A>C
c.1867A>C (p.Met623Leu)
c.2275A>C (p.Met759Leu)
n.3311A>C
c.2272A>C (p.Met758Leu)
c.2317A>C (p.Met773Leu)
n.2652A>C
c.2314A>C (p.Met772Leu)
c.2239A>C (p.Met747Leu)
c.2236A>C (p.Met746Leu)
c.2224A>C (p.Met742Leu)
 gnomAD v4
11g.22274650A>GCA5923523ANO5n.334A>G
c.1867A>G (p.Met623Val)
c.2275A>G (p.Met759Val)
n.3311A>G
c.2272A>G (p.Met758Val)
c.2317A>G (p.Met773Val)
n.2652A>G
c.2314A>G (p.Met772Val)
c.2239A>G (p.Met747Val)
c.2236A>G (p.Met746Val)
c.2224A>G (p.Met742Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22274650A>TCA379924243ANO5n.334A>T
c.1867A>T (p.Met623Leu)
c.2275A>T (p.Met759Leu)
n.3311A>T
c.2272A>T (p.Met758Leu)
c.2317A>T (p.Met773Leu)
n.2652A>T
c.2314A>T (p.Met772Leu)
c.2239A>T (p.Met747Leu)
c.2236A>T (p.Met746Leu)
c.2224A>T (p.Met742Leu)
 gnomAD v4
11g.22274651T>ACA379924247ANO5n.335T>A
c.1868T>A (p.Met623Lys)
c.2276T>A (p.Met759Lys)
n.3312T>A
c.2273T>A (p.Met758Lys)
c.2318T>A (p.Met773Lys)
n.2653T>A
c.2315T>A (p.Met772Lys)
c.2240T>A (p.Met747Lys)
c.2237T>A (p.Met746Lys)
c.2225T>A (p.Met742Lys)
11g.22274651T>CCA379924245ANO5n.335T>C
c.1868T>C (p.Met623Thr)
c.2276T>C (p.Met759Thr)
n.3312T>C
c.2273T>C (p.Met758Thr)
c.2318T>C (p.Met773Thr)
n.2653T>C
c.2315T>C (p.Met772Thr)
c.2240T>C (p.Met747Thr)
c.2237T>C (p.Met746Thr)
c.2225T>C (p.Met742Thr)
11g.22274651T>GCA379924246ANO5n.335T>G
c.1868T>G (p.Met623Arg)
c.2276T>G (p.Met759Arg)
n.3312T>G
c.2273T>G (p.Met758Arg)
c.2318T>G (p.Met773Arg)
n.2653T>G
c.2315T>G (p.Met772Arg)
c.2240T>G (p.Met747Arg)
c.2237T>G (p.Met746Arg)
c.2225T>G (p.Met742Arg)
11g.22274652G>ACA379924248ANO5n.336G>A
c.1869G>A (p.Met623Ile)
c.2277G>A (p.Met759Ile)
n.3313G>A
c.2274G>A (p.Met758Ile)
c.2319G>A (p.Met773Ile)
n.2654G>A
c.2316G>A (p.Met772Ile)
c.2241G>A (p.Met747Ile)
c.2238G>A (p.Met746Ile)
c.2226G>A (p.Met742Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.22274652G>CCA379924249ANO5n.336G>C
c.1869G>C (p.Met623Ile)
c.2277G>C (p.Met759Ile)
n.3313G>C
c.2274G>C (p.Met758Ile)
c.2319G>C (p.Met773Ile)
n.2654G>C
c.2316G>C (p.Met772Ile)
c.2241G>C (p.Met747Ile)
c.2238G>C (p.Met746Ile)
c.2226G>C (p.Met742Ile)
11g.22274652G=CA1957406080ANO5n.336G=
c.1869G= (p.Met623=)
c.2277G= (p.Met759=)
n.3313G=
c.2274G= (p.Met758=)
c.2319G= (p.Met773=)
n.2654G=
c.2316G= (p.Met772=)
c.2241G= (p.Met747=)
c.2238G= (p.Met746=)
c.2226G= (p.Met742=)
11g.22274652G>TCA379924250ANO5n.336G>T
c.1869G>T (p.Met623Ile)
c.2277G>T (p.Met759Ile)
n.3313G>T
c.2274G>T (p.Met758Ile)
c.2319G>T (p.Met773Ile)
n.2654G>T
c.2316G>T (p.Met772Ile)
c.2241G>T (p.Met747Ile)
c.2238G>T (p.Met746Ile)
c.2226G>T (p.Met742Ile)
11g.22274653A=CA1957406085ANO5n.337A=
c.1870A= (p.Thr624=)
c.2278A= (p.Thr760=)
n.3314A=
c.2275A= (p.Thr759=)
c.2320A= (p.Thr774=)
n.2655A=
c.2317A= (p.Thr773=)
c.2242A= (p.Thr748=)
c.2239A= (p.Thr747=)
c.2227A= (p.Thr743=)
11g.22274653A>CCA379924253ANO5n.337A>C
c.1870A>C (p.Thr624Pro)
c.2278A>C (p.Thr760Pro)
n.3314A>C
c.2275A>C (p.Thr759Pro)
c.2320A>C (p.Thr774Pro)
n.2655A>C
c.2317A>C (p.Thr773Pro)
c.2242A>C (p.Thr748Pro)
c.2239A>C (p.Thr747Pro)
c.2227A>C (p.Thr743Pro)
11g.22274653A>GCA379924252ANO5n.337A>G
c.1870A>G (p.Thr624Ala)
c.2278A>G (p.Thr760Ala)
n.3314A>G
c.2275A>G (p.Thr759Ala)
c.2320A>G (p.Thr774Ala)
n.2655A>G
c.2317A>G (p.Thr773Ala)
c.2242A>G (p.Thr748Ala)
c.2239A>G (p.Thr747Ala)
c.2227A>G (p.Thr743Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22274653A>TCA379924251ANO5n.337A>T
c.1870A>T (p.Thr624Ser)
c.2278A>T (p.Thr760Ser)
n.3314A>T
c.2275A>T (p.Thr759Ser)
c.2320A>T (p.Thr774Ser)
n.2655A>T
c.2317A>T (p.Thr773Ser)
c.2242A>T (p.Thr748Ser)
c.2239A>T (p.Thr747Ser)
c.2227A>T (p.Thr743Ser)
11g.22274654C>ACA5923524ANO5n.338C>A
c.1871C>A (p.Thr624Lys)
c.2279C>A (p.Thr760Lys)
n.3315C>A
c.2276C>A (p.Thr759Lys)
c.2321C>A (p.Thr774Lys)
n.2656C>A
c.2318C>A (p.Thr773Lys)
c.2243C>A (p.Thr748Lys)
c.2240C>A (p.Thr747Lys)
c.2228C>A (p.Thr743Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.22274654C=CA1957406088ANO5n.338C=
c.1871C= (p.Thr624=)
c.2279C= (p.Thr760=)
n.3315C=
c.2276C= (p.Thr759=)
c.2321C= (p.Thr774=)
n.2656C=
c.2318C= (p.Thr773=)
c.2243C= (p.Thr748=)
c.2240C= (p.Thr747=)
c.2228C= (p.Thr743=)
11g.22274654C>GCA379924254ANO5n.338C>G
c.1871C>G (p.Thr624Arg)
c.2279C>G (p.Thr760Arg)
n.3315C>G
c.2276C>G (p.Thr759Arg)
c.2321C>G (p.Thr774Arg)
n.2656C>G
c.2318C>G (p.Thr773Arg)
c.2243C>G (p.Thr748Arg)
c.2240C>G (p.Thr747Arg)
c.2228C>G (p.Thr743Arg)
11g.22274654C>TCA379924255ANO5n.338C>T
c.1871C>T (p.Thr624Ile)
c.2279C>T (p.Thr760Ile)
n.3315C>T
c.2276C>T (p.Thr759Ile)
c.2321C>T (p.Thr774Ile)
n.2656C>T
c.2318C>T (p.Thr773Ile)
c.2243C>T (p.Thr748Ile)
c.2240C>T (p.Thr747Ile)
c.2228C>T (p.Thr743Ile)
11g.22274655A=CA1957406098ANO5n.339A=
c.1872A= (p.Thr624=)
c.2280A= (p.Thr760=)
n.3316A=
c.2277A= (p.Thr759=)
c.2322A= (p.Thr774=)
n.2657A=
c.2319A= (p.Thr773=)
c.2244A= (p.Thr748=)
c.2241A= (p.Thr747=)
c.2229A= (p.Thr743=)
11g.22274655A>CCA473408087ANO5n.339A>C
c.1872A>C (p.Thr624=)
c.2280A>C (p.Thr760=)
n.3316A>C
c.2277A>C (p.Thr759=)
c.2322A>C (p.Thr774=)
n.2657A>C
c.2319A>C (p.Thr773=)
c.2244A>C (p.Thr748=)
c.2241A>C (p.Thr747=)
c.2229A>C (p.Thr743=)
11g.22274655A>GCA218777074ANO5n.339A>G
c.1872A>G (p.Thr624=)
c.2280A>G (p.Thr760=)
n.3316A>G
c.2277A>G (p.Thr759=)
c.2322A>G (p.Thr774=)
n.2657A>G
c.2319A>G (p.Thr773=)
c.2244A>G (p.Thr748=)
c.2241A>G (p.Thr747=)
c.2229A>G (p.Thr743=)
 dbSNP gnomAD v4
11g.22274655A>TCA473408088ANO5n.339A>T
c.1872A>T (p.Thr624=)
c.2280A>T (p.Thr760=)
n.3316A>T
c.2277A>T (p.Thr759=)
c.2322A>T (p.Thr774=)
n.2657A>T
c.2319A>T (p.Thr773=)
c.2244A>T (p.Thr748=)
c.2241A>T (p.Thr747=)
c.2229A>T (p.Thr743=)
11g.22274656G>ACA379924256ANO5n.340G>A
c.1873G>A (p.Gly625Arg)
c.2281G>A (p.Gly761Arg)
n.3317G>A
c.2278G>A (p.Gly760Arg)
c.2323G>A (p.Gly775Arg)
n.2658G>A
c.2320G>A (p.Gly774Arg)
c.2245G>A (p.Gly749Arg)
c.2242G>A (p.Gly748Arg)
c.2230G>A (p.Gly744Arg)
 dbSNP gnomAD v2
11g.22274656G>CCA379924257ANO5n.340G>C
c.1873G>C (p.Gly625Arg)
c.2281G>C (p.Gly761Arg)
n.3317G>C
c.2278G>C (p.Gly760Arg)
c.2323G>C (p.Gly775Arg)
n.2658G>C
c.2320G>C (p.Gly774Arg)
c.2245G>C (p.Gly749Arg)
c.2242G>C (p.Gly748Arg)
c.2230G>C (p.Gly744Arg)
11g.22274656G=CA1957406102ANO5n.340G=
c.1873G= (p.Gly625=)
c.2281G= (p.Gly761=)
n.3317G=
c.2278G= (p.Gly760=)
c.2323G= (p.Gly775=)
n.2658G=
c.2320G= (p.Gly774=)
c.2245G= (p.Gly749=)
c.2242G= (p.Gly748=)
c.2230G= (p.Gly744=)
11g.22274656G>TCA379924258ANO5n.340G>T
c.1873G>T (p.Gly625Ter)
c.2281G>T (p.Gly761Ter)
n.3317G>T
c.2278G>T (p.Gly760Ter)
c.2323G>T (p.Gly775Ter)
n.2658G>T
c.2320G>T (p.Gly774Ter)
c.2245G>T (p.Gly749Ter)
c.2242G>T (p.Gly748Ter)
c.2230G>T (p.Gly744Ter)
11g.22274657G>ACA379924259ANO5n.341G>A
c.1874G>A (p.Gly625Glu)
c.2282G>A (p.Gly761Glu)
n.3318G>A
c.2279G>A (p.Gly760Glu)
c.2324G>A (p.Gly775Glu)
n.2659G>A
c.2321G>A (p.Gly774Glu)
c.2246G>A (p.Gly749Glu)
c.2243G>A (p.Gly748Glu)
c.2231G>A (p.Gly744Glu)
11g.22274657G>CCA379924261ANO5n.341G>C
c.1874G>C (p.Gly625Ala)
c.2282G>C (p.Gly761Ala)
n.3318G>C
c.2279G>C (p.Gly760Ala)
c.2324G>C (p.Gly775Ala)
n.2659G>C
c.2321G>C (p.Gly774Ala)
c.2246G>C (p.Gly749Ala)
c.2243G>C (p.Gly748Ala)
c.2231G>C (p.Gly744Ala)
11g.22274657G>TCA379924260ANO5n.341G>T
c.1874G>T (p.Gly625Val)
c.2282G>T (p.Gly761Val)
n.3318G>T
c.2279G>T (p.Gly760Val)
c.2324G>T (p.Gly775Val)
n.2659G>T
c.2321G>T (p.Gly774Val)
c.2246G>T (p.Gly749Val)
c.2243G>T (p.Gly748Val)
c.2231G>T (p.Gly744Val)
11g.22274658A>CCA473408090ANO5n.342A>C
c.1875A>C (p.Gly625=)
c.2283A>C (p.Gly761=)
n.3319A>C
c.2280A>C (p.Gly760=)
c.2325A>C (p.Gly775=)
n.2660A>C
c.2322A>C (p.Gly774=)
c.2247A>C (p.Gly749=)
c.2244A>C (p.Gly748=)
c.2232A>C (p.Gly744=)
11g.22274658A>GCA473408091ANO5n.342A>G
c.1875A>G (p.Gly625=)
c.2283A>G (p.Gly761=)
n.3319A>G
c.2280A>G (p.Gly760=)
c.2325A>G (p.Gly775=)
n.2660A>G
c.2322A>G (p.Gly774=)
c.2247A>G (p.Gly749=)
c.2244A>G (p.Gly748=)
c.2232A>G (p.Gly744=)
11g.22274658A>TCA473408089ANO5n.342A>T
c.1875A>T (p.Gly625=)
c.2283A>T (p.Gly761=)
n.3319A>T
c.2280A>T (p.Gly760=)
c.2325A>T (p.Gly775=)
n.2660A>T
c.2322A>T (p.Gly774=)
c.2247A>T (p.Gly749=)
c.2244A>T (p.Gly748=)
c.2232A>T (p.Gly744=)
11g.22274659T>ACA379924262ANO5n.343T>A
c.1876T>A (p.Tyr626Asn)
c.2284T>A (p.Tyr762Asn)
n.3320T>A
c.2281T>A (p.Tyr761Asn)
c.2326T>A (p.Tyr776Asn)
n.2661T>A
c.2323T>A (p.Tyr775Asn)
c.2248T>A (p.Tyr750Asn)
c.2245T>A (p.Tyr749Asn)
c.2233T>A (p.Tyr745Asn)
11g.22274659T>CCA379924263ANO5n.343T>C
c.1876T>C (p.Tyr626His)
c.2284T>C (p.Tyr762His)
n.3320T>C
c.2281T>C (p.Tyr761His)
c.2326T>C (p.Tyr776His)
n.2661T>C
c.2323T>C (p.Tyr775His)
c.2248T>C (p.Tyr750His)
c.2245T>C (p.Tyr749His)
c.2233T>C (p.Tyr745His)
 dbSNP
11g.22274659T>GCA379924264ANO5n.343T>G
c.1876T>G (p.Tyr626Asp)
c.2284T>G (p.Tyr762Asp)
n.3320T>G
c.2281T>G (p.Tyr761Asp)
c.2326T>G (p.Tyr776Asp)
n.2661T>G
c.2323T>G (p.Tyr775Asp)
c.2248T>G (p.Tyr750Asp)
c.2245T>G (p.Tyr749Asp)
c.2233T>G (p.Tyr745Asp)
11g.22274660A>CCA379924265ANO5n.344A>C
c.1877A>C (p.Tyr626Ser)
c.2285A>C (p.Tyr762Ser)
n.3321A>C
c.2282A>C (p.Tyr761Ser)
c.2327A>C (p.Tyr776Ser)
n.2662A>C
c.2324A>C (p.Tyr775Ser)
c.2249A>C (p.Tyr750Ser)
c.2246A>C (p.Tyr749Ser)
c.2234A>C (p.Tyr745Ser)
11g.22274660A>GCA379924266ANO5n.344A>G
c.1877A>G (p.Tyr626Cys)
c.2285A>G (p.Tyr762Cys)
n.3321A>G
c.2282A>G (p.Tyr761Cys)
c.2327A>G (p.Tyr776Cys)
n.2662A>G
c.2324A>G (p.Tyr775Cys)
c.2249A>G (p.Tyr750Cys)
c.2246A>G (p.Tyr749Cys)
c.2234A>G (p.Tyr745Cys)
11g.22274660A>TCA379924267ANO5n.344A>T
c.1877A>T (p.Tyr626Phe)
c.2285A>T (p.Tyr762Phe)
n.3321A>T
c.2282A>T (p.Tyr761Phe)
c.2327A>T (p.Tyr776Phe)
n.2662A>T
c.2324A>T (p.Tyr775Phe)
c.2249A>T (p.Tyr750Phe)
c.2246A>T (p.Tyr749Phe)
c.2234A>T (p.Tyr745Phe)
11g.22274661T>ACA379924268ANO5n.345T>A
c.1878T>A (p.Tyr626Ter)
c.2286T>A (p.Tyr762Ter)
n.3322T>A
c.2283T>A (p.Tyr761Ter)
c.2328T>A (p.Tyr776Ter)
n.2663T>A
c.2325T>A (p.Tyr775Ter)
c.2250T>A (p.Tyr750Ter)
c.2247T>A (p.Tyr749Ter)
c.2235T>A (p.Tyr745Ter)
11g.22274661T>CCA473408092ANO5n.345T>C
c.1878T>C (p.Tyr626=)
c.2286T>C (p.Tyr762=)
n.3322T>C
c.2283T>C (p.Tyr761=)
c.2328T>C (p.Tyr776=)
n.2663T>C
c.2325T>C (p.Tyr775=)
c.2250T>C (p.Tyr750=)
c.2247T>C (p.Tyr749=)
c.2235T>C (p.Tyr745=)
11g.22274661T>GCA379924269ANO5n.345T>G
c.1878T>G (p.Tyr626Ter)
c.2286T>G (p.Tyr762Ter)
n.3322T>G
c.2283T>G (p.Tyr761Ter)
c.2328T>G (p.Tyr776Ter)
n.2663T>G
c.2325T>G (p.Tyr775Ter)
c.2250T>G (p.Tyr750Ter)
c.2247T>G (p.Tyr749Ter)
c.2235T>G (p.Tyr745Ter)
11g.22274662G>ACA379924270ANO5n.346G>A
c.1879G>A (p.Val627Met)
c.2287G>A (p.Val763Met)
n.3323G>A
c.2284G>A (p.Val762Met)
c.2329G>A (p.Val777Met)
n.2664G>A
c.2326G>A (p.Val776Met)
c.2251G>A (p.Val751Met)
c.2248G>A (p.Val750Met)
c.2236G>A (p.Val746Met)
 gnomAD v4
11g.22274662G>CCA379924271ANO5n.346G>C
c.1879G>C (p.Val627Leu)
c.2287G>C (p.Val763Leu)
n.3323G>C
c.2284G>C (p.Val762Leu)
c.2329G>C (p.Val777Leu)
n.2664G>C
c.2326G>C (p.Val776Leu)
c.2251G>C (p.Val751Leu)
c.2248G>C (p.Val750Leu)
c.2236G>C (p.Val746Leu)
11g.22274662G>TCA379924272ANO5n.346G>T
c.1879G>T (p.Val627Leu)
c.2287G>T (p.Val763Leu)
n.3323G>T
c.2284G>T (p.Val762Leu)
c.2329G>T (p.Val777Leu)
n.2664G>T
c.2326G>T (p.Val776Leu)
c.2251G>T (p.Val751Leu)
c.2248G>T (p.Val750Leu)
c.2236G>T (p.Val746Leu)
11g.22274663T>ACA379924275ANO5n.347T>A
c.1880T>A (p.Val627Glu)
c.2288T>A (p.Val763Glu)
n.3324T>A
c.2285T>A (p.Val762Glu)
c.2330T>A (p.Val777Glu)
n.2665T>A
c.2327T>A (p.Val776Glu)
c.2252T>A (p.Val751Glu)
c.2249T>A (p.Val750Glu)
c.2237T>A (p.Val746Glu)
11g.22274663T>CCA379924274ANO5n.347T>C
c.1880T>C (p.Val627Ala)
c.2288T>C (p.Val763Ala)
n.3324T>C
c.2285T>C (p.Val762Ala)
c.2330T>C (p.Val777Ala)
n.2665T>C
c.2327T>C (p.Val776Ala)
c.2252T>C (p.Val751Ala)
c.2249T>C (p.Val750Ala)
c.2237T>C (p.Val746Ala)
11g.22274663T>GCA379924273ANO5n.347T>G
c.1880T>G (p.Val627Gly)
c.2288T>G (p.Val763Gly)
n.3324T>G
c.2285T>G (p.Val762Gly)
c.2330T>G (p.Val777Gly)
n.2665T>G
c.2327T>G (p.Val776Gly)
c.2252T>G (p.Val751Gly)
c.2249T>G (p.Val750Gly)
c.2237T>G (p.Val746Gly)
11g.22274664G>ACA5923525ANO5n.348G>A
c.1881G>A (p.Val627=)
c.2289G>A (p.Val763=)
n.3325G>A
c.2286G>A (p.Val762=)
c.2331G>A (p.Val777=)
n.2666G>A
c.2328G>A (p.Val776=)
c.2253G>A (p.Val751=)
c.2250G>A (p.Val750=)
c.2238G>A (p.Val746=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22274664G>CCA473408093ANO5n.348G>C
c.1881G>C (p.Val627=)
c.2289G>C (p.Val763=)
n.3325G>C
c.2286G>C (p.Val762=)
c.2331G>C (p.Val777=)
n.2666G>C
c.2328G>C (p.Val776=)
c.2253G>C (p.Val751=)
c.2250G>C (p.Val750=)
c.2238G>C (p.Val746=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22274664G=CA1957406105ANO5n.348G=
c.1881G= (p.Val627=)
c.2289G= (p.Val763=)
n.3325G=
c.2286G= (p.Val762=)
c.2331G= (p.Val777=)
n.2666G=
c.2328G= (p.Val776=)
c.2253G= (p.Val751=)
c.2250G= (p.Val750=)
c.2238G= (p.Val746=)
11g.22274664G>TCA473408094ANO5n.348G>T
c.1881G>T (p.Val627=)
c.2289G>T (p.Val763=)
n.3325G>T
c.2286G>T (p.Val762=)
c.2331G>T (p.Val777=)
n.2666G>T
c.2328G>T (p.Val776=)
c.2253G>T (p.Val751=)
c.2250G>T (p.Val750=)
c.2238G>T (p.Val746=)
11g.22274665A>CCA379924276ANO5n.349A>C
c.1882A>C (p.Asn628His)
c.2290A>C (p.Asn764His)
n.3326A>C
c.2287A>C (p.Asn763His)
c.2332A>C (p.Asn778His)
n.2667A>C
c.2329A>C (p.Asn777His)
c.2254A>C (p.Asn752His)
c.2251A>C (p.Asn751His)
c.2239A>C (p.Asn747His)
11g.22274665A>GCA379924277ANO5n.349A>G
c.1882A>G (p.Asn628Asp)
c.2290A>G (p.Asn764Asp)
n.3326A>G
c.2287A>G (p.Asn763Asp)
c.2332A>G (p.Asn778Asp)
n.2667A>G
c.2329A>G (p.Asn777Asp)
c.2254A>G (p.Asn752Asp)
c.2251A>G (p.Asn751Asp)
c.2239A>G (p.Asn747Asp)
11g.22274665A>TCA379924278ANO5n.349A>T
c.1882A>T (p.Asn628Tyr)
c.2290A>T (p.Asn764Tyr)
n.3326A>T
c.2287A>T (p.Asn763Tyr)
c.2332A>T (p.Asn778Tyr)
n.2667A>T
c.2329A>T (p.Asn777Tyr)
c.2254A>T (p.Asn752Tyr)
c.2251A>T (p.Asn751Tyr)
c.2239A>T (p.Asn747Tyr)
11g.22274669_22274671delCA2612837704ANO5n.353_355del
c.1886_1888del (p.Asn629del)
c.2294_2296del (p.Asn765del)
n.3330_3332del
c.2291_2293del (p.Asn764del)
c.2336_2338del (p.Asn779del)
n.2671_2673del
c.2333_2335del (p.Asn778del)
c.2258_2260del (p.Asn753del)
c.2255_2257del (p.Asn752del)
c.2243_2245del (p.Asn748del)
 gnomAD v4
11g.22274666A>CCA379924279ANO5n.350A>C
c.1883A>C (p.Asn628Thr)
c.2291A>C (p.Asn764Thr)
n.3327A>C
c.2288A>C (p.Asn763Thr)
c.2333A>C (p.Asn778Thr)
n.2668A>C
c.2330A>C (p.Asn777Thr)
c.2255A>C (p.Asn752Thr)
c.2252A>C (p.Asn751Thr)
c.2240A>C (p.Asn747Thr)
11g.22274666A>GCA379924280ANO5n.350A>G
c.1883A>G (p.Asn628Ser)
c.2291A>G (p.Asn764Ser)
n.3327A>G
c.2288A>G (p.Asn763Ser)
c.2333A>G (p.Asn778Ser)
n.2668A>G
c.2330A>G (p.Asn777Ser)
c.2255A>G (p.Asn752Ser)
c.2252A>G (p.Asn751Ser)
c.2240A>G (p.Asn747Ser)
11g.22274666A>TCA379924281ANO5n.350A>T
c.1883A>T (p.Asn628Ile)
c.2291A>T (p.Asn764Ile)
n.3327A>T
c.2288A>T (p.Asn763Ile)
c.2333A>T (p.Asn778Ile)
n.2668A>T
c.2330A>T (p.Asn777Ile)
c.2255A>T (p.Asn752Ile)
c.2252A>T (p.Asn751Ile)
c.2240A>T (p.Asn747Ile)
11g.22274667T>ACA379924282ANO5n.351T>A
c.1884T>A (p.Asn628Lys)
c.2292T>A (p.Asn764Lys)
n.3328T>A
c.2289T>A (p.Asn763Lys)
c.2334T>A (p.Asn778Lys)
n.2669T>A
c.2331T>A (p.Asn777Lys)
c.2256T>A (p.Asn752Lys)
c.2253T>A (p.Asn751Lys)
c.2241T>A (p.Asn747Lys)
 gnomAD v4
11g.22274667T>CCA473408095ANO5n.351T>C
c.1884T>C (p.Asn628=)
c.2292T>C (p.Asn764=)
n.3328T>C
c.2289T>C (p.Asn763=)
c.2334T>C (p.Asn778=)
n.2669T>C
c.2331T>C (p.Asn777=)
c.2256T>C (p.Asn752=)
c.2253T>C (p.Asn751=)
c.2241T>C (p.Asn747=)
11g.22274667T>GCA379924283ANO5n.351T>G
c.1884T>G (p.Asn628Lys)
c.2292T>G (p.Asn764Lys)
n.3328T>G
c.2289T>G (p.Asn763Lys)
c.2334T>G (p.Asn778Lys)
n.2669T>G
c.2331T>G (p.Asn777Lys)
c.2256T>G (p.Asn752Lys)
c.2253T>G (p.Asn751Lys)
c.2241T>G (p.Asn747Lys)
11g.22274667T=CA1957406111ANO5n.351T=
c.1884T= (p.Asn628=)
c.2292T= (p.Asn764=)
n.3328T=
c.2289T= (p.Asn763=)
c.2334T= (p.Asn778=)
n.2669T=
c.2331T= (p.Asn777=)
c.2256T= (p.Asn752=)
c.2253T= (p.Asn751=)
c.2241T= (p.Asn747=)
11g.22274668A=CA1957406118ANO5n.352A=
c.1885A= (p.Asn629=)
c.2293A= (p.Asn765=)
n.3329A=
c.2290A= (p.Asn764=)
c.2335A= (p.Asn779=)
n.2670A=
c.2332A= (p.Asn778=)
c.2257A= (p.Asn753=)
c.2254A= (p.Asn752=)
c.2242A= (p.Asn748=)
11g.22274668A>CCA379924284ANO5n.352A>C
c.1885A>C (p.Asn629His)
c.2293A>C (p.Asn765His)
n.3329A>C
c.2290A>C (p.Asn764His)
c.2335A>C (p.Asn779His)
n.2670A>C
c.2332A>C (p.Asn778His)
c.2257A>C (p.Asn753His)
c.2254A>C (p.Asn752His)
c.2242A>C (p.Asn748His)
11g.22274668A>GCA379924285ANO5n.352A>G
c.1885A>G (p.Asn629Asp)
c.2293A>G (p.Asn765Asp)
n.3329A>G
c.2290A>G (p.Asn764Asp)
c.2335A>G (p.Asn779Asp)
n.2670A>G
c.2332A>G (p.Asn778Asp)
c.2257A>G (p.Asn753Asp)
c.2254A>G (p.Asn752Asp)
c.2242A>G (p.Asn748Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.22274668A>TCA379924286ANO5n.352A>T
c.1885A>T (p.Asn629Tyr)
c.2293A>T (p.Asn765Tyr)
n.3329A>T
c.2290A>T (p.Asn764Tyr)
c.2335A>T (p.Asn779Tyr)
n.2670A>T
c.2332A>T (p.Asn778Tyr)
c.2257A>T (p.Asn753Tyr)
c.2254A>T (p.Asn752Tyr)
c.2242A>T (p.Asn748Tyr)
11g.22274669dupCA935872155ANO5n.353dup
c.1886dup (p.Asn629LysfsTer2)
c.2294dup (p.Asn765LysfsTer2)
n.3330dup
c.2291dup (p.Asn764LysfsTer2)
c.2336dup (p.Asn779LysfsTer2)
n.2671dup
c.2333dup (p.Asn778LysfsTer2)
c.2258dup (p.Asn753LysfsTer2)
c.2255dup (p.Asn752LysfsTer2)
c.2243dup (p.Asn748LysfsTer2)
 dbSNP
11g.22274669A>CCA379924287ANO5n.353A>C
c.1886A>C (p.Asn629Thr)
c.2294A>C (p.Asn765Thr)
n.3330A>C
c.2291A>C (p.Asn764Thr)
c.2336A>C (p.Asn779Thr)
n.2671A>C
c.2333A>C (p.Asn778Thr)
c.2258A>C (p.Asn753Thr)
c.2255A>C (p.Asn752Thr)
c.2243A>C (p.Asn748Thr)
11g.22274669A>GCA379924288ANO5n.353A>G
c.1886A>G (p.Asn629Ser)
c.2294A>G (p.Asn765Ser)
n.3330A>G
c.2291A>G (p.Asn764Ser)
c.2336A>G (p.Asn779Ser)
n.2671A>G
c.2333A>G (p.Asn778Ser)
c.2258A>G (p.Asn753Ser)
c.2255A>G (p.Asn752Ser)
c.2243A>G (p.Asn748Ser)
11g.22274669A>TCA379924289ANO5n.353A>T
c.1886A>T (p.Asn629Ile)
c.2294A>T (p.Asn765Ile)
n.3330A>T
c.2291A>T (p.Asn764Ile)
c.2336A>T (p.Asn779Ile)
n.2671A>T
c.2333A>T (p.Asn778Ile)
c.2258A>T (p.Asn753Ile)
c.2255A>T (p.Asn752Ile)
c.2243A>T (p.Asn748Ile)
11g.22274670T>ACA379924290ANO5n.354T>A
c.1887T>A (p.Asn629Lys)
c.2295T>A (p.Asn765Lys)
n.3331T>A
c.2292T>A (p.Asn764Lys)
c.2337T>A (p.Asn779Lys)
n.2672T>A
c.2334T>A (p.Asn778Lys)
c.2259T>A (p.Asn753Lys)
c.2256T>A (p.Asn752Lys)
c.2244T>A (p.Asn748Lys)
11g.22274670T>CCA473408096ANO5n.354T>C
c.1887T>C (p.Asn629=)
c.2295T>C (p.Asn765=)
n.3331T>C
c.2292T>C (p.Asn764=)
c.2337T>C (p.Asn779=)
n.2672T>C
c.2334T>C (p.Asn778=)
c.2259T>C (p.Asn753=)
c.2256T>C (p.Asn752=)
c.2244T>C (p.Asn748=)
 dbSNP
11g.22274670T>GCA379924291ANO5n.354T>G
c.1887T>G (p.Asn629Lys)
c.2295T>G (p.Asn765Lys)
n.3331T>G
c.2292T>G (p.Asn764Lys)
c.2337T>G (p.Asn779Lys)
n.2672T>G
c.2334T>G (p.Asn778Lys)
c.2259T>G (p.Asn753Lys)
c.2256T>G (p.Asn752Lys)
c.2244T>G (p.Asn748Lys)
11g.22274670T=CA1957406123ANO5n.354T=
c.1887T= (p.Asn629=)
c.2295T= (p.Asn765=)
n.3331T=
c.2292T= (p.Asn764=)
c.2337T= (p.Asn779=)
n.2672T=
c.2334T= (p.Asn778=)
c.2259T= (p.Asn753=)
c.2256T= (p.Asn752=)
c.2244T= (p.Asn748=)
11g.22274671A>CCA379924292ANO5n.355A>C
c.1888A>C (p.Ser630Arg)
c.2296A>C (p.Ser766Arg)
n.3332A>C
c.2293A>C (p.Ser765Arg)
c.2338A>C (p.Ser780Arg)
n.2673A>C
c.2335A>C (p.Ser779Arg)
c.2260A>C (p.Ser754Arg)
c.2257A>C (p.Ser753Arg)
c.2245A>C (p.Ser749Arg)
11g.22274671A>GCA379924293ANO5n.355A>G
c.1888A>G (p.Ser630Gly)
c.2296A>G (p.Ser766Gly)
n.3332A>G
c.2293A>G (p.Ser765Gly)
c.2338A>G (p.Ser780Gly)
n.2673A>G
c.2335A>G (p.Ser779Gly)
c.2260A>G (p.Ser754Gly)
c.2257A>G (p.Ser753Gly)
c.2245A>G (p.Ser749Gly)
11g.22274671A>TCA379924294ANO5n.355A>T
c.1888A>T (p.Ser630Cys)
c.2296A>T (p.Ser766Cys)
n.3332A>T
c.2293A>T (p.Ser765Cys)
c.2338A>T (p.Ser780Cys)
n.2673A>T
c.2335A>T (p.Ser779Cys)
c.2260A>T (p.Ser754Cys)
c.2257A>T (p.Ser753Cys)
c.2245A>T (p.Ser749Cys)
11g.22274672G>ACA379924295ANO5n.356G>A
c.1889G>A (p.Ser630Asn)
c.2297G>A (p.Ser766Asn)
n.3333G>A
c.2294G>A (p.Ser765Asn)
c.2339G>A (p.Ser780Asn)
n.2674G>A
c.2336G>A (p.Ser779Asn)
c.2261G>A (p.Ser754Asn)
c.2258G>A (p.Ser753Asn)
c.2246G>A (p.Ser749Asn)
 ClinVar dbSNP
11g.22274672G>CCA379924296ANO5n.356G>C
c.1889G>C (p.Ser630Thr)
c.2297G>C (p.Ser766Thr)
n.3333G>C
c.2294G>C (p.Ser765Thr)
c.2339G>C (p.Ser780Thr)
n.2674G>C
c.2336G>C (p.Ser779Thr)
c.2261G>C (p.Ser754Thr)
c.2258G>C (p.Ser753Thr)
c.2246G>C (p.Ser749Thr)
 dbSNP gnomAD v4
11g.22274672G=CA1957406129ANO5n.356G=
c.1889G= (p.Ser630=)
c.2297G= (p.Ser766=)
n.3333G=
c.2294G= (p.Ser765=)
c.2339G= (p.Ser780=)
n.2674G=
c.2336G= (p.Ser779=)
c.2261G= (p.Ser754=)
c.2258G= (p.Ser753=)
c.2246G= (p.Ser749=)
11g.22274672G>TCA379924297ANO5n.356G>T
c.1889G>T (p.Ser630Ile)
c.2297G>T (p.Ser766Ile)
n.3333G>T
c.2294G>T (p.Ser765Ile)
c.2339G>T (p.Ser780Ile)
n.2674G>T
c.2336G>T (p.Ser779Ile)
c.2261G>T (p.Ser754Ile)
c.2258G>T (p.Ser753Ile)
c.2246G>T (p.Ser749Ile)
11g.22274673C>ACA379924298ANO5n.357C>A
c.1890C>A (p.Ser630Arg)
c.2298C>A (p.Ser766Arg)
n.3334C>A
c.2295C>A (p.Ser765Arg)
c.2340C>A (p.Ser780Arg)
n.2675C>A
c.2337C>A (p.Ser779Arg)
c.2262C>A (p.Ser754Arg)
c.2259C>A (p.Ser753Arg)
c.2247C>A (p.Ser749Arg)
11g.22274673C=CA1957406134ANO5n.357C=
c.1890C= (p.Ser630=)
c.2298C= (p.Ser766=)
n.3334C=
c.2295C= (p.Ser765=)
c.2340C= (p.Ser780=)
n.2675C=
c.2337C= (p.Ser779=)
c.2262C= (p.Ser754=)
c.2259C= (p.Ser753=)
c.2247C= (p.Ser749=)
11g.22274673C>GCA379924299ANO5n.357C>G
c.1890C>G (p.Ser630Arg)
c.2298C>G (p.Ser766Arg)
n.3334C>G
c.2295C>G (p.Ser765Arg)
c.2340C>G (p.Ser780Arg)
n.2675C>G
c.2337C>G (p.Ser779Arg)
c.2262C>G (p.Ser754Arg)
c.2259C>G (p.Ser753Arg)
c.2247C>G (p.Ser749Arg)
11g.22274673C>TCA473408097ANO5n.357C>T
c.1890C>T (p.Ser630=)
c.2298C>T (p.Ser766=)
n.3334C>T
c.2295C>T (p.Ser765=)
c.2340C>T (p.Ser780=)
n.2675C>T
c.2337C>T (p.Ser779=)
c.2262C>T (p.Ser754=)
c.2259C>T (p.Ser753=)
c.2247C>T (p.Ser749=)
 dbSNP gnomAD v2 gnomAD v4
11g.22274674C>ACA379924300ANO5n.358C>A
c.1891C>A (p.Leu631Met)
c.2299C>A (p.Leu767Met)
n.3335C>A
c.2296C>A (p.Leu766Met)
c.2341C>A (p.Leu781Met)
n.2676C>A
c.2338C>A (p.Leu780Met)
c.2263C>A (p.Leu755Met)
c.2260C>A (p.Leu754Met)
c.2248C>A (p.Leu750Met)
11g.22274674C=CA1957406139ANO5n.358C=
c.1891C= (p.Leu631=)
c.2299C= (p.Leu767=)
n.3335C=
c.2296C= (p.Leu766=)
c.2341C= (p.Leu781=)
n.2676C=
c.2338C= (p.Leu780=)
c.2263C= (p.Leu755=)
c.2260C= (p.Leu754=)
c.2248C= (p.Leu750=)
11g.22274674C>GCA379924301ANO5n.358C>G
c.1891C>G (p.Leu631Val)
c.2299C>G (p.Leu767Val)
n.3335C>G
c.2296C>G (p.Leu766Val)
c.2341C>G (p.Leu781Val)
n.2676C>G
c.2338C>G (p.Leu780Val)
c.2263C>G (p.Leu755Val)
c.2260C>G (p.Leu754Val)
c.2248C>G (p.Leu750Val)
11g.22274674C>TCA473408098ANO5n.358C>T
c.1891C>T (p.Leu631=)
c.2299C>T (p.Leu767=)
n.3335C>T
c.2296C>T (p.Leu766=)
c.2341C>T (p.Leu781=)
n.2676C>T
c.2338C>T (p.Leu780=)
c.2263C>T (p.Leu755=)
c.2260C>T (p.Leu754=)
c.2248C>T (p.Leu750=)
 dbSNP gnomAD v2 gnomAD v4
11g.22274675T>ACA379924302ANO5n.359T>A
c.1892T>A (p.Leu631Gln)
c.2300T>A (p.Leu767Gln)
n.3336T>A
c.2297T>A (p.Leu766Gln)
c.2342T>A (p.Leu781Gln)
n.2677T>A
c.2339T>A (p.Leu780Gln)
c.2264T>A (p.Leu755Gln)
c.2261T>A (p.Leu754Gln)
c.2249T>A (p.Leu750Gln)
11g.22274675T>CCA379924303ANO5n.359T>C
c.1892T>C (p.Leu631Pro)
c.2300T>C (p.Leu767Pro)
n.3336T>C
c.2297T>C (p.Leu766Pro)
c.2342T>C (p.Leu781Pro)
n.2677T>C
c.2339T>C (p.Leu780Pro)
c.2264T>C (p.Leu755Pro)
c.2261T>C (p.Leu754Pro)
c.2249T>C (p.Leu750Pro)
11g.22274675T>GCA379924304ANO5n.359T>G
c.1892T>G (p.Leu631Arg)
c.2300T>G (p.Leu767Arg)
n.3336T>G
c.2297T>G (p.Leu766Arg)
c.2342T>G (p.Leu781Arg)
n.2677T>G
c.2339T>G (p.Leu780Arg)
c.2264T>G (p.Leu755Arg)
c.2261T>G (p.Leu754Arg)
c.2249T>G (p.Leu750Arg)
11g.22274676G>ACA473408099ANO5n.360G>A
c.1893G>A (p.Leu631=)
c.2301G>A (p.Leu767=)
n.3337G>A
c.2298G>A (p.Leu766=)
c.2343G>A (p.Leu781=)
n.2678G>A
c.2340G>A (p.Leu780=)
c.2265G>A (p.Leu755=)
c.2262G>A (p.Leu754=)
c.2250G>A (p.Leu750=)
11g.22274676G>CCA473408100ANO5n.360G>C
c.1893G>C (p.Leu631=)
c.2301G>C (p.Leu767=)
n.3337G>C
c.2298G>C (p.Leu766=)
c.2343G>C (p.Leu781=)
n.2678G>C
c.2340G>C (p.Leu780=)
c.2265G>C (p.Leu755=)
c.2262G>C (p.Leu754=)
c.2250G>C (p.Leu750=)
11g.22274676G>TCA473408101ANO5n.360G>T
c.1893G>T (p.Leu631=)
c.2301G>T (p.Leu767=)
n.3337G>T
c.2298G>T (p.Leu766=)
c.2343G>T (p.Leu781=)
n.2678G>T
c.2340G>T (p.Leu780=)
c.2265G>T (p.Leu755=)
c.2262G>T (p.Leu754=)
c.2250G>T (p.Leu750=)
11g.22274677T>ACA379924307ANO5n.361T>A
c.1894T>A (p.Ser632Thr)
c.2302T>A (p.Ser768Thr)
n.3338T>A
c.2299T>A (p.Ser767Thr)
c.2344T>A (p.Ser782Thr)
n.2679T>A
c.2341T>A (p.Ser781Thr)
c.2266T>A (p.Ser756Thr)
c.2263T>A (p.Ser755Thr)
c.2251T>A (p.Ser751Thr)
11g.22274677T>CCA379924306ANO5n.361T>C
c.1894T>C (p.Ser632Pro)
c.2302T>C (p.Ser768Pro)
n.3338T>C
c.2299T>C (p.Ser767Pro)
c.2344T>C (p.Ser782Pro)
n.2679T>C
c.2341T>C (p.Ser781Pro)
c.2266T>C (p.Ser756Pro)
c.2263T>C (p.Ser755Pro)
c.2251T>C (p.Ser751Pro)
11g.22274677T>GCA379924305ANO5n.361T>G
c.1894T>G (p.Ser632Ala)
c.2302T>G (p.Ser768Ala)
n.3338T>G
c.2299T>G (p.Ser767Ala)
c.2344T>G (p.Ser782Ala)
n.2679T>G
c.2341T>G (p.Ser781Ala)
c.2266T>G (p.Ser756Ala)
c.2263T>G (p.Ser755Ala)
c.2251T>G (p.Ser751Ala)
11g.22274678C>ACA379924308ANO5n.362C>A
c.1895C>A (p.Ser632Ter)
c.2303C>A (p.Ser768Ter)
n.3339C>A
c.2300C>A (p.Ser767Ter)
c.2345C>A (p.Ser782Ter)
n.2680C>A
c.2342C>A (p.Ser781Ter)
c.2267C>A (p.Ser756Ter)
c.2264C>A (p.Ser755Ter)
c.2252C>A (p.Ser751Ter)
11g.22274678C=CA1957406142ANO5n.362C=
c.1895C= (p.Ser632=)
c.2303C= (p.Ser768=)
n.3339C=
c.2300C= (p.Ser767=)
c.2345C= (p.Ser782=)
n.2680C=
c.2342C= (p.Ser781=)
c.2267C= (p.Ser756=)
c.2264C= (p.Ser755=)
c.2252C= (p.Ser751=)
11g.22274678C>GCA5923526ANO5n.362C>G
c.1895C>G (p.Ser632Ter)
c.2303C>G (p.Ser768Ter)
n.3339C>G
c.2300C>G (p.Ser767Ter)
c.2345C>G (p.Ser782Ter)
n.2680C>G
c.2342C>G (p.Ser781Ter)
c.2267C>G (p.Ser756Ter)
c.2264C>G (p.Ser755Ter)
c.2252C>G (p.Ser751Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22274678C>TCA379924309ANO5n.362C>T
c.1895C>T (p.Ser632Leu)
c.2303C>T (p.Ser768Leu)
n.3339C>T
c.2300C>T (p.Ser767Leu)
c.2345C>T (p.Ser782Leu)
n.2680C>T
c.2342C>T (p.Ser781Leu)
c.2267C>T (p.Ser756Leu)
c.2264C>T (p.Ser755Leu)
c.2252C>T (p.Ser751Leu)
11g.22274679A>CCA473408103ANO5n.363A>C
c.1896A>C (p.Ser632=)
c.2304A>C (p.Ser768=)
n.3340A>C
c.2301A>C (p.Ser767=)
c.2346A>C (p.Ser782=)
n.2681A>C
c.2343A>C (p.Ser781=)
c.2268A>C (p.Ser756=)
c.2265A>C (p.Ser755=)
c.2253A>C (p.Ser751=)
11g.22274679A>GCA473408104ANO5n.363A>G
c.1896A>G (p.Ser632=)
c.2304A>G (p.Ser768=)
n.3340A>G
c.2301A>G (p.Ser767=)
c.2346A>G (p.Ser782=)
n.2681A>G
c.2343A>G (p.Ser781=)
c.2268A>G (p.Ser756=)
c.2265A>G (p.Ser755=)
c.2253A>G (p.Ser751=)
11g.22274679A>TCA473408102ANO5n.363A>T
c.1896A>T (p.Ser632=)
c.2304A>T (p.Ser768=)
n.3340A>T
c.2301A>T (p.Ser767=)
c.2346A>T (p.Ser782=)
n.2681A>T
c.2343A>T (p.Ser781=)
c.2268A>T (p.Ser756=)
c.2265A>T (p.Ser755=)
c.2253A>T (p.Ser751=)
11g.22274680G>ACA5923527ANO5n.364G>A
c.1897G>A (p.Val633Ile)
c.2305G>A (p.Val769Ile)
n.3341G>A
c.2302G>A (p.Val768Ile)
c.2347G>A (p.Val783Ile)
n.2682G>A
c.2344G>A (p.Val782Ile)
c.2269G>A (p.Val757Ile)
c.2266G>A (p.Val756Ile)
c.2254G>A (p.Val752Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.22274680G>CCA379924310ANO5n.364G>C
c.1897G>C (p.Val633Leu)
c.2305G>C (p.Val769Leu)
n.3341G>C
c.2302G>C (p.Val768Leu)
c.2347G>C (p.Val783Leu)
n.2682G>C
c.2344G>C (p.Val782Leu)
c.2269G>C (p.Val757Leu)
c.2266G>C (p.Val756Leu)
c.2254G>C (p.Val752Leu)
 ClinVar dbSNP
11g.22274680G=CA1957406148ANO5n.364G=
c.1897G= (p.Val633=)
c.2305G= (p.Val769=)
n.3341G=
c.2302G= (p.Val768=)
c.2347G= (p.Val783=)
n.2682G=
c.2344G= (p.Val782=)
c.2269G= (p.Val757=)
c.2266G= (p.Val756=)
c.2254G= (p.Val752=)
11g.22274680G>TCA379924311ANO5n.364G>T
c.1897G>T (p.Val633Leu)
c.2305G>T (p.Val769Leu)
n.3341G>T
c.2302G>T (p.Val768Leu)
c.2347G>T (p.Val783Leu)
n.2682G>T
c.2344G>T (p.Val782Leu)
c.2269G>T (p.Val757Leu)
c.2266G>T (p.Val756Leu)
c.2254G>T (p.Val752Leu)
11g.22274681T>ACA379924312ANO5n.365T>A
c.1898T>A (p.Val633Glu)
c.2306T>A (p.Val769Glu)
n.3342T>A
c.2303T>A (p.Val768Glu)
c.2348T>A (p.Val783Glu)
n.2683T>A
c.2345T>A (p.Val782Glu)
c.2270T>A (p.Val757Glu)
c.2267T>A (p.Val756Glu)
c.2255T>A (p.Val752Glu)
11g.22274681T>CCA5923528ANO5n.365T>C
c.1898T>C (p.Val633Ala)
c.2306T>C (p.Val769Ala)
n.3342T>C
c.2303T>C (p.Val768Ala)
c.2348T>C (p.Val783Ala)
n.2683T>C
c.2345T>C (p.Val782Ala)
c.2270T>C (p.Val757Ala)
c.2267T>C (p.Val756Ala)
c.2255T>C (p.Val752Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22274681T>GCA379924313ANO5n.365T>G
c.1898T>G (p.Val633Gly)
c.2306T>G (p.Val769Gly)
n.3342T>G
c.2303T>G (p.Val768Gly)
c.2348T>G (p.Val783Gly)
n.2683T>G
c.2345T>G (p.Val782Gly)
c.2270T>G (p.Val757Gly)
c.2267T>G (p.Val756Gly)
c.2255T>G (p.Val752Gly)
11g.22274681T=CA1957406158ANO5n.365T=
c.1898T= (p.Val633=)
c.2306T= (p.Val769=)
n.3342T=
c.2303T= (p.Val768=)
c.2348T= (p.Val783=)
n.2683T=
c.2345T= (p.Val782=)
c.2270T= (p.Val757=)
c.2267T= (p.Val756=)
c.2255T= (p.Val752=)
11g.22274682A=CA1957406161ANO5n.366A=
c.1899A= (p.Val633=)
c.2307A= (p.Val769=)
n.3343A=
c.2304A= (p.Val768=)
c.2349A= (p.Val783=)
n.2684A=
c.2346A= (p.Val782=)
c.2271A= (p.Val757=)
c.2268A= (p.Val756=)
c.2256A= (p.Val752=)
11g.22274682A>CCA473408105ANO5n.366A>C
c.1899A>C (p.Val633=)
c.2307A>C (p.Val769=)
n.3343A>C
c.2304A>C (p.Val768=)
c.2349A>C (p.Val783=)
n.2684A>C
c.2346A>C (p.Val782=)
c.2271A>C (p.Val757=)
c.2268A>C (p.Val756=)
c.2256A>C (p.Val752=)
11g.22274682A>GCA473408106ANO5n.366A>G
c.1899A>G (p.Val633=)
c.2307A>G (p.Val769=)
n.3343A>G
c.2304A>G (p.Val768=)
c.2349A>G (p.Val783=)
n.2684A>G
c.2346A>G (p.Val782=)
c.2271A>G (p.Val757=)
c.2268A>G (p.Val756=)
c.2256A>G (p.Val752=)
 dbSNP COSMIC
11g.22274682A>TCA473408107ANO5n.366A>T
c.1899A>T (p.Val633=)
c.2307A>T (p.Val769=)
n.3343A>T
c.2304A>T (p.Val768=)
c.2349A>T (p.Val783=)
n.2684A>T
c.2346A>T (p.Val782=)
c.2271A>T (p.Val757=)
c.2268A>T (p.Val756=)
c.2256A>T (p.Val752=)
11g.22274683T>ACA379924314ANO5n.367T>A
c.1900T>A (p.Phe634Ile)
c.2308T>A (p.Phe770Ile)
n.3344T>A
c.2305T>A (p.Phe769Ile)
c.2350T>A (p.Phe784Ile)
n.2685T>A
c.2347T>A (p.Phe783Ile)
c.2272T>A (p.Phe758Ile)
c.2269T>A (p.Phe757Ile)
c.2257T>A (p.Phe753Ile)
11g.22274683T>CCA379924315ANO5n.367T>C
c.1900T>C (p.Phe634Leu)
c.2308T>C (p.Phe770Leu)
n.3344T>C
c.2305T>C (p.Phe769Leu)
c.2350T>C (p.Phe784Leu)
n.2685T>C
c.2347T>C (p.Phe783Leu)
c.2272T>C (p.Phe758Leu)
c.2269T>C (p.Phe757Leu)
c.2257T>C (p.Phe753Leu)
11g.22274683T>GCA379924316ANO5n.367T>G
c.1900T>G (p.Phe634Val)
c.2308T>G (p.Phe770Val)
n.3344T>G
c.2305T>G (p.Phe769Val)
c.2350T>G (p.Phe784Val)
n.2685T>G
c.2347T>G (p.Phe783Val)
c.2272T>G (p.Phe758Val)
c.2269T>G (p.Phe757Val)
c.2257T>G (p.Phe753Val)
11g.22274684T>ACA379924317ANO5n.368T>A
c.1901T>A (p.Phe634Tyr)
c.2309T>A (p.Phe770Tyr)
n.3345T>A
c.2306T>A (p.Phe769Tyr)
c.2351T>A (p.Phe784Tyr)
n.2686T>A
c.2348T>A (p.Phe783Tyr)
c.2273T>A (p.Phe758Tyr)
c.2270T>A (p.Phe757Tyr)
c.2258T>A (p.Phe753Tyr)
11g.22274684T>CCA379924318ANO5n.368T>C
c.1901T>C (p.Phe634Ser)
c.2309T>C (p.Phe770Ser)
n.3345T>C
c.2306T>C (p.Phe769Ser)
c.2351T>C (p.Phe784Ser)
n.2686T>C
c.2348T>C (p.Phe783Ser)
c.2273T>C (p.Phe758Ser)
c.2270T>C (p.Phe757Ser)
c.2258T>C (p.Phe753Ser)
11g.22274684T>GCA379924319ANO5n.368T>G
c.1901T>G (p.Phe634Cys)
c.2309T>G (p.Phe770Cys)
n.3345T>G
c.2306T>G (p.Phe769Cys)
c.2351T>G (p.Phe784Cys)
n.2686T>G
c.2348T>G (p.Phe783Cys)
c.2273T>G (p.Phe758Cys)
c.2270T>G (p.Phe757Cys)
c.2258T>G (p.Phe753Cys)
11g.22274685C>ACA379924320ANO5n.369C>A
c.1902C>A (p.Phe634Leu)
c.2310C>A (p.Phe770Leu)
n.3346C>A
c.2307C>A (p.Phe769Leu)
c.2352C>A (p.Phe784Leu)
n.2687C>A
c.2349C>A (p.Phe783Leu)
c.2274C>A (p.Phe758Leu)
c.2271C>A (p.Phe757Leu)
c.2259C>A (p.Phe753Leu)
11g.22274685C=CA1957406164ANO5n.369C=
c.1902C= (p.Phe634=)
c.2310C= (p.Phe770=)
n.3346C=
c.2307C= (p.Phe769=)
c.2352C= (p.Phe784=)
n.2687C=
c.2349C= (p.Phe783=)
c.2274C= (p.Phe758=)
c.2271C= (p.Phe757=)
c.2259C= (p.Phe753=)
11g.22274685C>GCA379924321ANO5n.369C>G
c.1902C>G (p.Phe634Leu)
c.2310C>G (p.Phe770Leu)
n.3346C>G
c.2307C>G (p.Phe769Leu)
c.2352C>G (p.Phe784Leu)
n.2687C>G
c.2349C>G (p.Phe783Leu)
c.2274C>G (p.Phe758Leu)
c.2271C>G (p.Phe757Leu)
c.2259C>G (p.Phe753Leu)
11g.22274685C>TCA473408108ANO5n.369C>T
c.1902C>T (p.Phe634=)
c.2310C>T (p.Phe770=)
n.3346C>T
c.2307C>T (p.Phe769=)
c.2352C>T (p.Phe784=)
n.2687C>T
c.2349C>T (p.Phe783=)
c.2274C>T (p.Phe758=)
c.2271C>T (p.Phe757=)
c.2259C>T (p.Phe753=)
 dbSNP gnomAD v3 gnomAD v4
11g.22274686C>ACA379924322ANO5n.370C>A
c.1903C>A (p.Leu635Met)
c.2311C>A (p.Leu771Met)
n.3347C>A
c.2308C>A (p.Leu770Met)
c.2353C>A (p.Leu785Met)
n.2688C>A
c.2350C>A (p.Leu784Met)
c.2275C>A (p.Leu759Met)
c.2272C>A (p.Leu758Met)
c.2260C>A (p.Leu754Met)
11g.22274686C=CA1957406169ANO5n.370C=
c.1903C= (p.Leu635=)
c.2311C= (p.Leu771=)
n.3347C=
c.2308C= (p.Leu770=)
c.2353C= (p.Leu785=)
n.2688C=
c.2350C= (p.Leu784=)
c.2275C= (p.Leu759=)
c.2272C= (p.Leu758=)
c.2260C= (p.Leu754=)
11g.22274686C>GCA379924323ANO5n.370C>G
c.1903C>G (p.Leu635Val)
c.2311C>G (p.Leu771Val)
n.3347C>G
c.2308C>G (p.Leu770Val)
c.2353C>G (p.Leu785Val)
n.2688C>G
c.2350C>G (p.Leu784Val)
c.2275C>G (p.Leu759Val)
c.2272C>G (p.Leu758Val)
c.2260C>G (p.Leu754Val)
11g.22274686C>TCA5923529ANO5n.370C>T
c.1903C>T (p.Leu635=)
c.2311C>T (p.Leu771=)
n.3347C>T
c.2308C>T (p.Leu770=)
c.2353C>T (p.Leu785=)
n.2688C>T
c.2350C>T (p.Leu784=)
c.2275C>T (p.Leu759=)
c.2272C>T (p.Leu758=)
c.2260C>T (p.Leu754=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22274687T>ACA379924324ANO5n.371T>A
c.1904T>A (p.Leu635Gln)
c.2312T>A (p.Leu771Gln)
n.3348T>A
c.2309T>A (p.Leu770Gln)
c.2354T>A (p.Leu785Gln)
n.2689T>A
c.2351T>A (p.Leu784Gln)
c.2276T>A (p.Leu759Gln)
c.2273T>A (p.Leu758Gln)
c.2261T>A (p.Leu754Gln)
11g.22274687T>CCA379924325ANO5n.371T>C
c.1904T>C (p.Leu635Pro)
c.2312T>C (p.Leu771Pro)
n.3348T>C
c.2309T>C (p.Leu770Pro)
c.2354T>C (p.Leu785Pro)
n.2689T>C
c.2351T>C (p.Leu784Pro)
c.2276T>C (p.Leu759Pro)
c.2273T>C (p.Leu758Pro)
c.2261T>C (p.Leu754Pro)
 gnomAD v4
11g.22274687T>GCA5923530ANO5n.371T>G
c.1904T>G (p.Leu635Arg)
c.2312T>G (p.Leu771Arg)
n.3348T>G
c.2309T>G (p.Leu770Arg)
c.2354T>G (p.Leu785Arg)
n.2689T>G
c.2351T>G (p.Leu784Arg)
c.2276T>G (p.Leu759Arg)
c.2273T>G (p.Leu758Arg)
c.2261T>G (p.Leu754Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22274687T=CA1957406176ANO5n.371T=
c.1904T= (p.Leu635=)
c.2312T= (p.Leu771=)
n.3348T=
c.2309T= (p.Leu770=)
c.2354T= (p.Leu785=)
n.2689T=
c.2351T= (p.Leu784=)
c.2276T= (p.Leu759=)
c.2273T= (p.Leu758=)
c.2261T= (p.Leu754=)
11g.22274688G>ACA473408109ANO5n.372G>A
c.1905G>A (p.Leu635=)
c.2313G>A (p.Leu771=)
n.3349G>A
c.2310G>A (p.Leu770=)
c.2355G>A (p.Leu785=)
n.2690G>A
c.2352G>A (p.Leu784=)
c.2277G>A (p.Leu759=)
c.2274G>A (p.Leu758=)
c.2262G>A (p.Leu754=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.22274688G>CCA473408110ANO5n.372G>C
c.1905G>C (p.Leu635=)
c.2313G>C (p.Leu771=)
n.3349G>C
c.2310G>C (p.Leu770=)
c.2355G>C (p.Leu785=)
n.2690G>C
c.2352G>C (p.Leu784=)
c.2277G>C (p.Leu759=)
c.2274G>C (p.Leu758=)
c.2262G>C (p.Leu754=)
11g.22274688G=CA1957406183ANO5n.372G=
c.1905G= (p.Leu635=)
c.2313G= (p.Leu771=)
n.3349G=
c.2310G= (p.Leu770=)
c.2355G= (p.Leu785=)
n.2690G=
c.2352G= (p.Leu784=)
c.2277G= (p.Leu759=)
c.2274G= (p.Leu758=)
c.2262G= (p.Leu754=)
11g.22274688G>TCA473408111ANO5n.372G>T
c.1905G>T (p.Leu635=)
c.2313G>T (p.Leu771=)
n.3349G>T
c.2310G>T (p.Leu770=)
c.2355G>T (p.Leu785=)
n.2690G>T
c.2352G>T (p.Leu784=)
c.2277G>T (p.Leu759=)
c.2274G>T (p.Leu758=)
c.2262G>T (p.Leu754=)
 dbSNP gnomAD v2 gnomAD v4
11g.22274689A>CCA379924326ANO5n.373A>C
c.1906A>C (p.Ile636Leu)
c.2314A>C (p.Ile772Leu)
n.3350A>C
c.2311A>C (p.Ile771Leu)
c.2356A>C (p.Ile786Leu)
n.2691A>C
c.2353A>C (p.Ile785Leu)
c.2278A>C (p.Ile760Leu)
c.2275A>C (p.Ile759Leu)
c.2263A>C (p.Ile755Leu)
11g.22274689A>GCA379924327ANO5n.373A>G
c.1906A>G (p.Ile636Val)
c.2314A>G (p.Ile772Val)
n.3350A>G
c.2311A>G (p.Ile771Val)
c.2356A>G (p.Ile786Val)
n.2691A>G
c.2353A>G (p.Ile785Val)
c.2278A>G (p.Ile760Val)
c.2275A>G (p.Ile759Val)
c.2263A>G (p.Ile755Val)
11g.22274689A>TCA379924328ANO5n.373A>T
c.1906A>T (p.Ile636Leu)
c.2314A>T (p.Ile772Leu)
n.3350A>T
c.2311A>T (p.Ile771Leu)
c.2356A>T (p.Ile786Leu)
n.2691A>T
c.2353A>T (p.Ile785Leu)
c.2278A>T (p.Ile760Leu)
c.2275A>T (p.Ile759Leu)
c.2263A>T (p.Ile755Leu)
11g.22274690T>ACA379924329ANO5n.374T>A
c.1907T>A (p.Ile636Lys)
c.2315T>A (p.Ile772Lys)
n.3351T>A
c.2312T>A (p.Ile771Lys)
c.2357T>A (p.Ile786Lys)
n.2692T>A
c.2354T>A (p.Ile785Lys)
c.2279T>A (p.Ile760Lys)
c.2276T>A (p.Ile759Lys)
c.2264T>A (p.Ile755Lys)
 ClinVar
11g.22274690T>CCA379924330ANO5n.374T>C
c.1907T>C (p.Ile636Thr)
c.2315T>C (p.Ile772Thr)
n.3351T>C
c.2312T>C (p.Ile771Thr)
c.2357T>C (p.Ile786Thr)
n.2692T>C
c.2354T>C (p.Ile785Thr)
c.2279T>C (p.Ile760Thr)
c.2276T>C (p.Ile759Thr)
c.2264T>C (p.Ile755Thr)
 gnomAD v4
11g.22274690T>GCA379924331ANO5n.374T>G
c.1907T>G (p.Ile636Arg)
c.2315T>G (p.Ile772Arg)
n.3351T>G
c.2312T>G (p.Ile771Arg)
c.2357T>G (p.Ile786Arg)
n.2692T>G
c.2354T>G (p.Ile785Arg)
c.2279T>G (p.Ile760Arg)
c.2276T>G (p.Ile759Arg)
c.2264T>G (p.Ile755Arg)
11g.22274691A>CCA473408112ANO5n.375A>C
c.1908A>C (p.Ile636=)
c.2316A>C (p.Ile772=)
n.3352A>C
c.2313A>C (p.Ile771=)
c.2358A>C (p.Ile786=)
n.2693A>C
c.2355A>C (p.Ile785=)
c.2280A>C (p.Ile760=)
c.2277A>C (p.Ile759=)
c.2265A>C (p.Ile755=)
11g.22274691A>GCA379924332ANO5n.375A>G
c.1908A>G (p.Ile636Met)
c.2316A>G (p.Ile772Met)
n.3352A>G
c.2313A>G (p.Ile771Met)
c.2358A>G (p.Ile786Met)
n.2693A>G
c.2355A>G (p.Ile785Met)
c.2280A>G (p.Ile760Met)
c.2277A>G (p.Ile759Met)
c.2265A>G (p.Ile755Met)
11g.22274691A>TCA473408113ANO5n.375A>T
c.1908A>T (p.Ile636=)
c.2316A>T (p.Ile772=)
n.3352A>T
c.2313A>T (p.Ile771=)
c.2358A>T (p.Ile786=)
n.2693A>T
c.2355A>T (p.Ile785=)
c.2280A>T (p.Ile760=)
c.2277A>T (p.Ile759=)
c.2265A>T (p.Ile755=)
11g.22274692G>ACA379924335ANO5n.376G>A
c.1909G>A (p.Ala637Thr)
c.2317G>A (p.Ala773Thr)
n.3353G>A
c.2314G>A (p.Ala772Thr)
c.2359G>A (p.Ala787Thr)
n.2694G>A
c.2356G>A (p.Ala786Thr)
c.2281G>A (p.Ala761Thr)
c.2278G>A (p.Ala760Thr)
c.2266G>A (p.Ala756Thr)
 gnomAD v4
11g.22274692G>CCA379924333ANO5n.376G>C
c.1909G>C (p.Ala637Pro)
c.2317G>C (p.Ala773Pro)
n.3353G>C
c.2314G>C (p.Ala772Pro)
c.2359G>C (p.Ala787Pro)
n.2694G>C
c.2356G>C (p.Ala786Pro)
c.2281G>C (p.Ala761Pro)
c.2278G>C (p.Ala760Pro)
c.2266G>C (p.Ala756Pro)
11g.22274692G>TCA379924334ANO5n.376G>T
c.1909G>T (p.Ala637Ser)
c.2317G>T (p.Ala773Ser)
n.3353G>T
c.2314G>T (p.Ala772Ser)
c.2359G>T (p.Ala787Ser)
n.2694G>T
c.2356G>T (p.Ala786Ser)
c.2281G>T (p.Ala761Ser)
c.2278G>T (p.Ala760Ser)
c.2266G>T (p.Ala756Ser)
 gnomAD v4
11g.22274693C>ACA379924336ANO5n.377C>A
c.1910C>A (p.Ala637Asp)
c.2318C>A (p.Ala773Asp)
n.3354C>A
c.2315C>A (p.Ala772Asp)
c.2360C>A (p.Ala787Asp)
n.2695C>A
c.2357C>A (p.Ala786Asp)
c.2282C>A (p.Ala761Asp)
c.2279C>A (p.Ala760Asp)
c.2267C>A (p.Ala756Asp)
11g.22274693C>GCA379924337ANO5n.377C>G
c.1910C>G (p.Ala637Gly)
c.2318C>G (p.Ala773Gly)
n.3354C>G
c.2315C>G (p.Ala772Gly)
c.2360C>G (p.Ala787Gly)
n.2695C>G
c.2357C>G (p.Ala786Gly)
c.2282C>G (p.Ala761Gly)
c.2279C>G (p.Ala760Gly)
c.2267C>G (p.Ala756Gly)
11g.22274693C>TCA379924338ANO5n.377C>T
c.1910C>T (p.Ala637Val)
c.2318C>T (p.Ala773Val)
n.3354C>T
c.2315C>T (p.Ala772Val)
c.2360C>T (p.Ala787Val)
n.2695C>T
c.2357C>T (p.Ala786Val)
c.2282C>T (p.Ala761Val)
c.2279C>T (p.Ala760Val)
c.2267C>T (p.Ala756Val)
 ClinVar gnomAD v4
11g.22274694T>ACA473408114ANO5n.378T>A
c.1911T>A (p.Ala637=)
c.2319T>A (p.Ala773=)
n.3355T>A
c.2316T>A (p.Ala772=)
c.2361T>A (p.Ala787=)
n.2696T>A
c.2358T>A (p.Ala786=)
c.2283T>A (p.Ala761=)
c.2280T>A (p.Ala760=)
c.2268T>A (p.Ala756=)
11g.22274694T>CCA473408115ANO5n.378T>C
c.1911T>C (p.Ala637=)
c.2319T>C (p.Ala773=)
n.3355T>C
c.2316T>C (p.Ala772=)
c.2361T>C (p.Ala787=)
n.2696T>C
c.2358T>C (p.Ala786=)
c.2283T>C (p.Ala761=)
c.2280T>C (p.Ala760=)
c.2268T>C (p.Ala756=)
 dbSNP
11g.22274694T>GCA473408116ANO5n.378T>G
c.1911T>G (p.Ala637=)
c.2319T>G (p.Ala773=)
n.3355T>G
c.2316T>G (p.Ala772=)
c.2361T>G (p.Ala787=)
n.2696T>G
c.2358T>G (p.Ala786=)
c.2283T>G (p.Ala761=)
c.2280T>G (p.Ala760=)
c.2268T>G (p.Ala756=)
11g.22274694T=CA1957406189ANO5n.378T=
c.1911T= (p.Ala637=)
c.2319T= (p.Ala773=)
n.3355T=
c.2316T= (p.Ala772=)
c.2361T= (p.Ala787=)
n.2696T=
c.2358T= (p.Ala786=)
c.2283T= (p.Ala761=)
c.2280T= (p.Ala760=)
c.2268T= (p.Ala756=)
11g.22274695G>ACA379924339ANO5n.379G>A
c.1912G>A (p.Asp638Asn)
c.2320G>A (p.Asp774Asn)
n.3356G>A
c.2317G>A (p.Asp773Asn)
c.2362G>A (p.Asp788Asn)
n.2697G>A
c.2359G>A (p.Asp787Asn)
c.2284G>A (p.Asp762Asn)
c.2281G>A (p.Asp761Asn)
c.2269G>A (p.Asp757Asn)
 ClinVar gnomAD v4
11g.22274695G>CCA5923531ANO5n.379G>C
c.1912G>C (p.Asp638His)
c.2320G>C (p.Asp774His)
n.3356G>C
c.2317G>C (p.Asp773His)
c.2362G>C (p.Asp788His)
n.2697G>C
c.2359G>C (p.Asp787His)
c.2284G>C (p.Asp762His)
c.2281G>C (p.Asp761His)
c.2269G>C (p.Asp757His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22274695G=CA1957406192ANO5n.379G=
c.1912G= (p.Asp638=)
c.2320G= (p.Asp774=)
n.3356G=
c.2317G= (p.Asp773=)
c.2362G= (p.Asp788=)
n.2697G=
c.2359G= (p.Asp787=)
c.2284G= (p.Asp762=)
c.2281G= (p.Asp761=)
c.2269G= (p.Asp757=)
11g.22274695G>TCA379924340ANO5n.379G>T
c.1912G>T (p.Asp638Tyr)
c.2320G>T (p.Asp774Tyr)
n.3356G>T
c.2317G>T (p.Asp773Tyr)
c.2362G>T (p.Asp788Tyr)
n.2697G>T
c.2359G>T (p.Asp787Tyr)
c.2284G>T (p.Asp762Tyr)
c.2281G>T (p.Asp761Tyr)
c.2269G>T (p.Asp757Tyr)
11g.22274696A>CCA379924343ANO5n.380A>C
c.1913A>C (p.Asp638Ala)
c.2321A>C (p.Asp774Ala)
n.3357A>C
c.2318A>C (p.Asp773Ala)
c.2363A>C (p.Asp788Ala)
n.2698A>C
c.2360A>C (p.Asp787Ala)
c.2285A>C (p.Asp762Ala)
c.2282A>C (p.Asp761Ala)
c.2270A>C (p.Asp757Ala)
11g.22274696A>GCA379924341ANO5n.380A>G
c.1913A>G (p.Asp638Gly)
c.2321A>G (p.Asp774Gly)
n.3357A>G
c.2318A>G (p.Asp773Gly)
c.2363A>G (p.Asp788Gly)
n.2698A>G
c.2360A>G (p.Asp787Gly)
c.2285A>G (p.Asp762Gly)
c.2282A>G (p.Asp761Gly)
c.2270A>G (p.Asp757Gly)
 gnomAD v4
11g.22274696A>TCA379924342ANO5n.380A>T
c.1913A>T (p.Asp638Val)
c.2321A>T (p.Asp774Val)
n.3357A>T
c.2318A>T (p.Asp773Val)
c.2363A>T (p.Asp788Val)
n.2698A>T
c.2360A>T (p.Asp787Val)
c.2285A>T (p.Asp762Val)
c.2282A>T (p.Asp761Val)
c.2270A>T (p.Asp757Val)
11g.22274697T>ACA379924344ANO5n.381T>A
c.1914T>A (p.Asp638Glu)
c.2322T>A (p.Asp774Glu)
n.3358T>A
c.2319T>A (p.Asp773Glu)
c.2364T>A (p.Asp788Glu)
n.2699T>A
c.2361T>A (p.Asp787Glu)
c.2286T>A (p.Asp762Glu)
c.2283T>A (p.Asp761Glu)
c.2271T>A (p.Asp757Glu)
11g.22274697T>CCA473408117ANO5n.381T>C
c.1914T>C (p.Asp638=)
c.2322T>C (p.Asp774=)
n.3358T>C
c.2319T>C (p.Asp773=)
c.2364T>C (p.Asp788=)
n.2699T>C
c.2361T>C (p.Asp787=)
c.2286T>C (p.Asp762=)
c.2283T>C (p.Asp761=)
c.2271T>C (p.Asp757=)
 gnomAD v4
11g.22274697T>GCA379924345ANO5n.381T>G
c.1914T>G (p.Asp638Glu)
c.2322T>G (p.Asp774Glu)
n.3358T>G
c.2319T>G (p.Asp773Glu)
c.2364T>G (p.Asp788Glu)
n.2699T>G
c.2361T>G (p.Asp787Glu)
c.2286T>G (p.Asp762Glu)
c.2283T>G (p.Asp761Glu)
c.2271T>G (p.Asp757Glu)
11g.22274698T>ACA379924346ANO5n.382T>A
c.1915T>A (p.Phe639Ile)
c.2323T>A (p.Phe775Ile)
n.3359T>A
c.2320T>A (p.Phe774Ile)
c.2365T>A (p.Phe789Ile)
n.2700T>A
c.2362T>A (p.Phe788Ile)
c.2287T>A (p.Phe763Ile)
c.2284T>A (p.Phe762Ile)
c.2272T>A (p.Phe758Ile)
11g.22274698T>CCA379924347ANO5n.382T>C
c.1915T>C (p.Phe639Leu)
c.2323T>C (p.Phe775Leu)
n.3359T>C
c.2320T>C (p.Phe774Leu)
c.2365T>C (p.Phe789Leu)
n.2700T>C
c.2362T>C (p.Phe788Leu)
c.2287T>C (p.Phe763Leu)
c.2284T>C (p.Phe762Leu)
c.2272T>C (p.Phe758Leu)
11g.22274698T>GCA379924348ANO5n.382T>G
c.1915T>G (p.Phe639Val)
c.2323T>G (p.Phe775Val)
n.3359T>G
c.2320T>G (p.Phe774Val)
c.2365T>G (p.Phe789Val)
n.2700T>G
c.2362T>G (p.Phe788Val)
c.2287T>G (p.Phe763Val)
c.2284T>G (p.Phe762Val)
c.2272T>G (p.Phe758Val)
11g.22274699T>ACA379924349ANO5n.383T>A
c.1916T>A (p.Phe639Tyr)
c.2324T>A (p.Phe775Tyr)
n.3360T>A
c.2321T>A (p.Phe774Tyr)
c.2366T>A (p.Phe789Tyr)
n.2701T>A
c.2363T>A (p.Phe788Tyr)
c.2288T>A (p.Phe763Tyr)
c.2285T>A (p.Phe762Tyr)
c.2273T>A (p.Phe758Tyr)
11g.22274699T>CCA379924351ANO5n.383T>C
c.1916T>C (p.Phe639Ser)
c.2324T>C (p.Phe775Ser)
n.3360T>C
c.2321T>C (p.Phe774Ser)
c.2366T>C (p.Phe789Ser)
n.2701T>C
c.2363T>C (p.Phe788Ser)
c.2288T>C (p.Phe763Ser)
c.2285T>C (p.Phe762Ser)
c.2273T>C (p.Phe758Ser)
11g.22274699T>GCA379924350ANO5n.383T>G
c.1916T>G (p.Phe639Cys)
c.2324T>G (p.Phe775Cys)
n.3360T>G
c.2321T>G (p.Phe774Cys)
c.2366T>G (p.Phe789Cys)
n.2701T>G
c.2363T>G (p.Phe788Cys)
c.2288T>G (p.Phe763Cys)
c.2285T>G (p.Phe762Cys)
c.2273T>G (p.Phe758Cys)
 COSMIC
11g.22274700T>ACA379924352ANO5n.384T>A
c.1917T>A (p.Phe639Leu)
c.2325T>A (p.Phe775Leu)
n.3361T>A
c.2322T>A (p.Phe774Leu)
c.2367T>A (p.Phe789Leu)
n.2702T>A
c.2364T>A (p.Phe788Leu)
c.2289T>A (p.Phe763Leu)
c.2286T>A (p.Phe762Leu)
c.2274T>A (p.Phe758Leu)
11g.22274700T>CCA473408118ANO5n.384T>C
c.1917T>C (p.Phe639=)
c.2325T>C (p.Phe775=)
n.3361T>C
c.2322T>C (p.Phe774=)
c.2367T>C (p.Phe789=)
n.2702T>C
c.2364T>C (p.Phe788=)
c.2289T>C (p.Phe763=)
c.2286T>C (p.Phe762=)
c.2274T>C (p.Phe758=)
11g.22274700T>GCA379924353ANO5n.384T>G
c.1917T>G (p.Phe639Leu)
c.2325T>G (p.Phe775Leu)
n.3361T>G
c.2322T>G (p.Phe774Leu)
c.2367T>G (p.Phe789Leu)
n.2702T>G
c.2364T>G (p.Phe788Leu)
c.2289T>G (p.Phe763Leu)
c.2286T>G (p.Phe762Leu)
c.2274T>G (p.Phe758Leu)
 gnomAD v4
11g.22274701C>ACA379924354ANO5n.385C>A
c.1918C>A (p.Pro640Thr)
c.2326C>A (p.Pro776Thr)
n.3362C>A
c.2323C>A (p.Pro775Thr)
c.2368C>A (p.Pro790Thr)
n.2703C>A
c.2365C>A (p.Pro789Thr)
c.2290C>A (p.Pro764Thr)
c.2287C>A (p.Pro763Thr)
c.2275C>A (p.Pro759Thr)
11g.22274701C>GCA379924355ANO5n.385C>G
c.1918C>G (p.Pro640Ala)
c.2326C>G (p.Pro776Ala)
n.3362C>G
c.2323C>G (p.Pro775Ala)
c.2368C>G (p.Pro790Ala)
n.2703C>G
c.2365C>G (p.Pro789Ala)
c.2290C>G (p.Pro764Ala)
c.2287C>G (p.Pro763Ala)
c.2275C>G (p.Pro759Ala)
11g.22274701C>TCA379924356ANO5n.385C>T
c.1918C>T (p.Pro640Ser)
c.2326C>T (p.Pro776Ser)
n.3362C>T
c.2323C>T (p.Pro775Ser)
c.2368C>T (p.Pro790Ser)
n.2703C>T
c.2365C>T (p.Pro789Ser)
c.2290C>T (p.Pro764Ser)
c.2287C>T (p.Pro763Ser)
c.2275C>T (p.Pro759Ser)
11g.22274702C>ACA379924357ANO5n.386C>A
c.1919C>A (p.Pro640Gln)
c.2327C>A (p.Pro776Gln)
n.3363C>A
c.2324C>A (p.Pro775Gln)
c.2369C>A (p.Pro790Gln)
n.2704C>A
c.2366C>A (p.Pro789Gln)
c.2291C>A (p.Pro764Gln)
c.2288C>A (p.Pro763Gln)
c.2276C>A (p.Pro759Gln)
11g.22274702C=CA1957406196ANO5n.386C=
c.1919C= (p.Pro640=)
c.2327C= (p.Pro776=)
n.3363C=
c.2324C= (p.Pro775=)
c.2369C= (p.Pro790=)
n.2704C=
c.2366C= (p.Pro789=)
c.2291C= (p.Pro764=)
c.2288C= (p.Pro763=)
c.2276C= (p.Pro759=)
11g.22274702C>GCA379924358ANO5n.386C>G
c.1919C>G (p.Pro640Arg)
c.2327C>G (p.Pro776Arg)
n.3363C>G
c.2324C>G (p.Pro775Arg)
c.2369C>G (p.Pro790Arg)
n.2704C>G
c.2366C>G (p.Pro789Arg)
c.2291C>G (p.Pro764Arg)
c.2288C>G (p.Pro763Arg)
c.2276C>G (p.Pro759Arg)
11g.22274702C>TCA379924359ANO5n.386C>T
c.1919C>T (p.Pro640Leu)
c.2327C>T (p.Pro776Leu)
n.3363C>T
c.2324C>T (p.Pro775Leu)
c.2369C>T (p.Pro790Leu)
n.2704C>T
c.2366C>T (p.Pro789Leu)
c.2291C>T (p.Pro764Leu)
c.2288C>T (p.Pro763Leu)
c.2276C>T (p.Pro759Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.22274703A>CCA473408119ANO5n.387A>C
c.1920A>C (p.Pro640=)
c.2328A>C (p.Pro776=)
n.3364A>C
c.2325A>C (p.Pro775=)
c.2370A>C (p.Pro790=)
n.2705A>C
c.2367A>C (p.Pro789=)
c.2292A>C (p.Pro764=)
c.2289A>C (p.Pro763=)
c.2277A>C (p.Pro759=)
11g.22274703A>GCA473408120ANO5n.387A>G
c.1920A>G (p.Pro640=)
c.2328A>G (p.Pro776=)
n.3364A>G
c.2325A>G (p.Pro775=)
c.2370A>G (p.Pro790=)
n.2705A>G
c.2367A>G (p.Pro789=)
c.2292A>G (p.Pro764=)
c.2289A>G (p.Pro763=)
c.2277A>G (p.Pro759=)
11g.22274703A>TCA473408121ANO5n.387A>T
c.1920A>T (p.Pro640=)
c.2328A>T (p.Pro776=)
n.3364A>T
c.2325A>T (p.Pro775=)
c.2370A>T (p.Pro790=)
n.2705A>T
c.2367A>T (p.Pro789=)
c.2292A>T (p.Pro764=)
c.2289A>T (p.Pro763=)
c.2277A>T (p.Pro759=)
11g.22274705dupCA2790698965ANO5n.389dup
c.1922dup (p.Asn641LysfsTer24)
c.2330dup (p.Asn777LysfsTer24)
c.2330dup (p.Asn777LysfsTer?)
n.3366dup
c.2327dup (p.Asn776LysfsTer24)
c.2372dup (p.Asn791LysfsTer24)
n.2707dup
c.2369dup (p.Asn790LysfsTer24)
c.2294dup (p.Asn765LysfsTer24)
c.2291dup (p.Asn764LysfsTer24)
c.2279dup (p.Asn760LysfsTer24)
11g.22274704A>CCA379924360ANO5n.388A>C
c.1921A>C (p.Asn641His)
c.2329A>C (p.Asn777His)
n.3365A>C
c.2326A>C (p.Asn776His)
c.2371A>C (p.Asn791His)
n.2706A>C
c.2368A>C (p.Asn790His)
c.2293A>C (p.Asn765His)
c.2290A>C (p.Asn764His)
c.2278A>C (p.Asn760His)
11g.22274704A>GCA379924361ANO5n.388A>G
c.1921A>G (p.Asn641Asp)
c.2329A>G (p.Asn777Asp)
n.3365A>G
c.2326A>G (p.Asn776Asp)
c.2371A>G (p.Asn791Asp)
n.2706A>G
c.2368A>G (p.Asn790Asp)
c.2293A>G (p.Asn765Asp)
c.2290A>G (p.Asn764Asp)
c.2278A>G (p.Asn760Asp)
11g.22274704A>TCA379924362ANO5n.388A>T
c.1921A>T (p.Asn641Tyr)
c.2329A>T (p.Asn777Tyr)
n.3365A>T
c.2326A>T (p.Asn776Tyr)
c.2371A>T (p.Asn791Tyr)
n.2706A>T
c.2368A>T (p.Asn790Tyr)
c.2293A>T (p.Asn765Tyr)
c.2290A>T (p.Asn764Tyr)
c.2278A>T (p.Asn760Tyr)
11g.22274705A>CCA379924363ANO5n.389A>C
c.1922A>C (p.Asn641Thr)
c.2330A>C (p.Asn777Thr)
n.3366A>C
c.2327A>C (p.Asn776Thr)
c.2372A>C (p.Asn791Thr)
n.2707A>C
c.2369A>C (p.Asn790Thr)
c.2294A>C (p.Asn765Thr)
c.2291A>C (p.Asn764Thr)
c.2279A>C (p.Asn760Thr)
11g.22274705A>GCA379924365ANO5n.389A>G
c.1922A>G (p.Asn641Ser)
c.2330A>G (p.Asn777Ser)
n.3366A>G
c.2327A>G (p.Asn776Ser)
c.2372A>G (p.Asn791Ser)
n.2707A>G
c.2369A>G (p.Asn790Ser)
c.2294A>G (p.Asn765Ser)
c.2291A>G (p.Asn764Ser)
c.2279A>G (p.Asn760Ser)
11g.22274705A>TCA379924364ANO5n.389A>T
c.1922A>T (p.Asn641Ile)
c.2330A>T (p.Asn777Ile)
n.3366A>T
c.2327A>T (p.Asn776Ile)
c.2372A>T (p.Asn791Ile)
n.2707A>T
c.2369A>T (p.Asn790Ile)
c.2294A>T (p.Asn765Ile)
c.2291A>T (p.Asn764Ile)
c.2279A>T (p.Asn760Ile)

Number of alleles fetched