Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.63496863C>ACA400566975ACEc.3569C>A (p.Pro1190His)
c.1847C>A (p.Pro616His)
c.1724C>A (p.Pro575His)
n.579C>A
c.*1324C>A (n.*1324C>A)
c.*1298C>A (n.*1298C>A)
c.256C>A
n.443C>A
c.3020C>A (p.Pro1007His)
c.1907C>A (p.Pro636His)
c.3002C>A (p.Pro1001His)
c.2717C>A (p.Pro906His)
c.1184C>A (p.Pro395His)
n.1947C>A
dbSNP COSMIC COSMIC COSMIC
17g.63496863C=CA2269949781ACEc.3569C= (p.Pro1190=)
c.1847C= (p.Pro616=)
c.1724C= (p.Pro575=)
n.579C=
c.*1324C= (n.*1324C=)
c.*1298C= (n.*1298C=)
c.256C=
n.443C=
c.3020C= (p.Pro1007=)
c.1907C= (p.Pro636=)
c.3002C= (p.Pro1001=)
c.2717C= (p.Pro906=)
c.1184C= (p.Pro395=)
n.1947C=
17g.63496863C>GCA400566981ACEc.3569C>G (p.Pro1190Arg)
c.1847C>G (p.Pro616Arg)
c.1724C>G (p.Pro575Arg)
n.579C>G
c.*1324C>G (n.*1324C>G)
c.*1298C>G (n.*1298C>G)
c.256C>G
n.443C>G
c.3020C>G (p.Pro1007Arg)
c.1907C>G (p.Pro636Arg)
c.3002C>G (p.Pro1001Arg)
c.2717C>G (p.Pro906Arg)
c.1184C>G (p.Pro395Arg)
n.1947C>G
17g.63496863C>TCA400566978ACEc.3569C>T (p.Pro1190Leu)
c.1847C>T (p.Pro616Leu)
c.1724C>T (p.Pro575Leu)
n.579C>T
c.*1324C>T (n.*1324C>T)
c.*1298C>T (n.*1298C>T)
c.256C>T
n.443C>T
c.3020C>T (p.Pro1007Leu)
c.1907C>T (p.Pro636Leu)
c.3002C>T (p.Pro1001Leu)
c.2717C>T (p.Pro906Leu)
c.1184C>T (p.Pro395Leu)
n.1947C>T
dbSNP gnomAD v3 gnomAD v4
17g.63496864C>ACA501342341ACEc.3570C>A (p.Pro1190=)
c.1848C>A (p.Pro616=)
c.1725C>A (p.Pro575=)
n.580C>A
c.*1325C>A (n.*1325C>A)
c.*1299C>A (n.*1299C>A)
c.257C>A
n.444C>A
c.3021C>A (p.Pro1007=)
c.1908C>A (p.Pro636=)
c.3003C>A (p.Pro1001=)
c.2718C>A (p.Pro906=)
c.1185C>A (p.Pro395=)
n.1948C>A
17g.63496864C>GCA501342342ACEc.3570C>G (p.Pro1190=)
c.1848C>G (p.Pro616=)
c.1725C>G (p.Pro575=)
n.580C>G
c.*1325C>G (n.*1325C>G)
c.*1299C>G (n.*1299C>G)
c.257C>G
n.444C>G
c.3021C>G (p.Pro1007=)
c.1908C>G (p.Pro636=)
c.3003C>G (p.Pro1001=)
c.2718C>G (p.Pro906=)
c.1185C>G (p.Pro395=)
n.1948C>G
17g.63496864C>TCA501342343ACEc.3570C>T (p.Pro1190=)
c.1848C>T (p.Pro616=)
c.1725C>T (p.Pro575=)
n.580C>T
c.*1325C>T (n.*1325C>T)
c.*1299C>T (n.*1299C>T)
c.257C>T
n.444C>T
c.3021C>T (p.Pro1007=)
c.1908C>T (p.Pro636=)
c.3003C>T (p.Pro1001=)
c.2718C>T (p.Pro906=)
c.1185C>T (p.Pro395=)
n.1948C>T
gnomAD v4
17g.63496865A>CCA400566984ACEc.3571A>C (p.Asn1191His)
c.1849A>C (p.Asn617His)
c.1726A>C (p.Asn576His)
n.581A>C
c.*1326A>C (n.*1326A>C)
c.*1300A>C (n.*1300A>C)
c.258A>C
n.445A>C
c.3022A>C (p.Asn1008His)
c.1909A>C (p.Asn637His)
c.3004A>C (p.Asn1002His)
c.2719A>C (p.Asn907His)
c.1186A>C (p.Asn396His)
n.1949A>C
17g.63496865A>GCA400566988ACEc.3571A>G (p.Asn1191Asp)
c.1849A>G (p.Asn617Asp)
c.1726A>G (p.Asn576Asp)
n.581A>G
c.*1326A>G (n.*1326A>G)
c.*1300A>G (n.*1300A>G)
c.258A>G
n.445A>G
c.3022A>G (p.Asn1008Asp)
c.1909A>G (p.Asn637Asp)
c.3004A>G (p.Asn1002Asp)
c.2719A>G (p.Asn907Asp)
c.1186A>G (p.Asn396Asp)
n.1949A>G
17g.63496865A>TCA400566993ACEc.3571A>T (p.Asn1191Tyr)
c.1849A>T (p.Asn617Tyr)
c.1726A>T (p.Asn576Tyr)
n.581A>T
c.*1326A>T (n.*1326A>T)
c.*1300A>T (n.*1300A>T)
c.258A>T
n.445A>T
c.3022A>T (p.Asn1008Tyr)
c.1909A>T (p.Asn637Tyr)
c.3004A>T (p.Asn1002Tyr)
c.2719A>T (p.Asn907Tyr)
c.1186A>T (p.Asn396Tyr)
n.1949A>T
17g.63496866A>CCA400566997ACEc.3572A>C (p.Asn1191Thr)
c.1850A>C (p.Asn617Thr)
c.1727A>C (p.Asn576Thr)
n.582A>C
c.*1327A>C (n.*1327A>C)
c.*1301A>C (n.*1301A>C)
c.259A>C
n.446A>C
c.3023A>C (p.Asn1008Thr)
c.1910A>C (p.Asn637Thr)
c.3005A>C (p.Asn1002Thr)
c.2720A>C (p.Asn907Thr)
c.1187A>C (p.Asn396Thr)
n.1950A>C
gnomAD v4
17g.63496866A>GCA400566999ACEc.3572A>G (p.Asn1191Ser)
c.1850A>G (p.Asn617Ser)
c.1727A>G (p.Asn576Ser)
n.582A>G
c.*1327A>G (n.*1327A>G)
c.*1301A>G (n.*1301A>G)
c.259A>G
n.446A>G
c.3023A>G (p.Asn1008Ser)
c.1910A>G (p.Asn637Ser)
c.3005A>G (p.Asn1002Ser)
c.2720A>G (p.Asn907Ser)
c.1187A>G (p.Asn396Ser)
n.1950A>G
gnomAD v4
17g.63496866A>TCA400567002ACEc.3572A>T (p.Asn1191Ile)
c.1850A>T (p.Asn617Ile)
c.1727A>T (p.Asn576Ile)
n.582A>T
c.*1327A>T (n.*1327A>T)
c.*1301A>T (n.*1301A>T)
c.259A>T
n.446A>T
c.3023A>T (p.Asn1008Ile)
c.1910A>T (p.Asn637Ile)
c.3005A>T (p.Asn1002Ile)
c.2720A>T (p.Asn907Ile)
c.1187A>T (p.Asn396Ile)
n.1950A>T
17g.63496866_63496867insGCA2576350418ACEc.3572_3573insG (p.Asn1191LysfsTer?)
c.1850_1851insG (p.Asn617LysfsTer?)
c.1727_1728insG (p.Asn576LysfsTer?)
n.582_583insG
c.*1327_*1328insG (n.*1327_*1328insG)
c.*1301_*1302insG (n.*1301_*1302insG)
c.259_260insG
n.446_447insG
c.3023_3024insG (p.Asn1008LysfsTer?)
c.1910_1911insG (p.Asn637LysfsTer?)
c.3005_3006insG (p.Asn1002LysfsTer?)
c.2720_2721insG (p.Asn907LysfsTer?)
c.1187_1188insG (p.Asn396LysfsTer?)
n.1950_1951insG
gnomAD v4
17g.63496867C>ACA400567009ACEc.3573C>A (p.Asn1191Lys)
c.1851C>A (p.Asn617Lys)
c.1728C>A (p.Asn576Lys)
n.583C>A
c.*1328C>A (n.*1328C>A)
c.*1302C>A (n.*1302C>A)
c.260C>A
n.447C>A
c.3024C>A (p.Asn1008Lys)
c.1911C>A (p.Asn637Lys)
c.3006C>A (p.Asn1002Lys)
c.2721C>A (p.Asn907Lys)
c.1188C>A (p.Asn396Lys)
n.1951C>A
17g.63496867C>GCA400567012ACEc.3573C>G (p.Asn1191Lys)
c.1851C>G (p.Asn617Lys)
c.1728C>G (p.Asn576Lys)
n.583C>G
c.*1328C>G (n.*1328C>G)
c.*1302C>G (n.*1302C>G)
c.260C>G
n.447C>G
c.3024C>G (p.Asn1008Lys)
c.1911C>G (p.Asn637Lys)
c.3006C>G (p.Asn1002Lys)
c.2721C>G (p.Asn907Lys)
c.1188C>G (p.Asn396Lys)
n.1951C>G
17g.63496867C>TCA501342344ACEc.3573C>T (p.Asn1191=)
c.1851C>T (p.Asn617=)
c.1728C>T (p.Asn576=)
n.583C>T
c.*1328C>T (n.*1328C>T)
c.*1302C>T (n.*1302C>T)
c.260C>T
n.447C>T
c.3024C>T (p.Asn1008=)
c.1911C>T (p.Asn637=)
c.3006C>T (p.Asn1002=)
c.2721C>T (p.Asn907=)
c.1188C>T (p.Asn396=)
n.1951C>T
17g.63496868A=CA2269949782ACEc.3574A= (p.Met1192=)
c.1852A= (p.Met618=)
c.1729A= (p.Met577=)
n.584A=
c.*1329A= (n.*1329A=)
c.*1303A= (n.*1303A=)
c.261A=
n.448A=
c.3025A= (p.Met1009=)
c.1912A= (p.Met638=)
c.3007A= (p.Met1003=)
c.2722A= (p.Met908=)
c.1189A= (p.Met397=)
n.1952A=
17g.63496868A>CCA400567014ACEc.3574A>C (p.Met1192Leu)
c.1852A>C (p.Met618Leu)
c.1729A>C (p.Met577Leu)
n.584A>C
c.*1329A>C (n.*1329A>C)
c.*1303A>C (n.*1303A>C)
c.261A>C
n.448A>C
c.3025A>C (p.Met1009Leu)
c.1912A>C (p.Met638Leu)
c.3007A>C (p.Met1003Leu)
c.2722A>C (p.Met908Leu)
c.1189A>C (p.Met397Leu)
n.1952A>C
17g.63496868A>GCA400567017ACEc.3574A>G (p.Met1192Val)
c.1852A>G (p.Met618Val)
c.1729A>G (p.Met577Val)
n.584A>G
c.*1329A>G (n.*1329A>G)
c.*1303A>G (n.*1303A>G)
c.261A>G
n.448A>G
c.3025A>G (p.Met1009Val)
c.1912A>G (p.Met638Val)
c.3007A>G (p.Met1003Val)
c.2722A>G (p.Met908Val)
c.1189A>G (p.Met397Val)
n.1952A>G
dbSNP gnomAD v4
17g.63496868A>TCA400567020ACEc.3574A>T (p.Met1192Leu)
c.1852A>T (p.Met618Leu)
c.1729A>T (p.Met577Leu)
n.584A>T
c.*1329A>T (n.*1329A>T)
c.*1303A>T (n.*1303A>T)
c.261A>T
n.448A>T
c.3025A>T (p.Met1009Leu)
c.1912A>T (p.Met638Leu)
c.3007A>T (p.Met1003Leu)
c.2722A>T (p.Met908Leu)
c.1189A>T (p.Met397Leu)
n.1952A>T
gnomAD v4
17g.63496869T>ACA400567022ACEc.3575T>A (p.Met1192Lys)
c.1853T>A (p.Met618Lys)
c.1730T>A (p.Met577Lys)
n.585T>A
c.*1330T>A (n.*1330T>A)
c.*1304T>A (n.*1304T>A)
c.262T>A
n.449T>A
c.3026T>A (p.Met1009Lys)
c.1913T>A (p.Met638Lys)
c.3008T>A (p.Met1003Lys)
c.2723T>A (p.Met908Lys)
c.1190T>A (p.Met397Lys)
n.1953T>A
gnomAD v4
17g.63496869T>CCA400567024ACEc.3575T>C (p.Met1192Thr)
c.1853T>C (p.Met618Thr)
c.1730T>C (p.Met577Thr)
n.585T>C
c.*1330T>C (n.*1330T>C)
c.*1304T>C (n.*1304T>C)
c.262T>C
n.449T>C
c.3026T>C (p.Met1009Thr)
c.1913T>C (p.Met638Thr)
c.3008T>C (p.Met1003Thr)
c.2723T>C (p.Met908Thr)
c.1190T>C (p.Met397Thr)
n.1953T>C
17g.63496869T>GCA400567021ACEc.3575T>G (p.Met1192Arg)
c.1853T>G (p.Met618Arg)
c.1730T>G (p.Met577Arg)
n.585T>G
c.*1330T>G (n.*1330T>G)
c.*1304T>G (n.*1304T>G)
c.262T>G
n.449T>G
c.3026T>G (p.Met1009Arg)
c.1913T>G (p.Met638Arg)
c.3008T>G (p.Met1003Arg)
c.2723T>G (p.Met908Arg)
c.1190T>G (p.Met397Arg)
n.1953T>G
17g.63496870G>ACA400567031ACEc.3576G>A (p.Met1192Ile)
c.1854G>A (p.Met618Ile)
c.1731G>A (p.Met577Ile)
n.586G>A
c.*1331G>A (n.*1331G>A)
c.*1305G>A (n.*1305G>A)
c.263G>A
n.450G>A
c.3027G>A (p.Met1009Ile)
c.1914G>A (p.Met638Ile)
c.3009G>A (p.Met1003Ile)
c.2724G>A (p.Met908Ile)
c.1191G>A (p.Met397Ile)
n.1954G>A
17g.63496870G>CCA400567028ACEc.3576G>C (p.Met1192Ile)
c.1854G>C (p.Met618Ile)
c.1731G>C (p.Met577Ile)
n.586G>C
c.*1331G>C (n.*1331G>C)
c.*1305G>C (n.*1305G>C)
c.263G>C
n.450G>C
c.3027G>C (p.Met1009Ile)
c.1914G>C (p.Met638Ile)
c.3009G>C (p.Met1003Ile)
c.2724G>C (p.Met908Ile)
c.1191G>C (p.Met397Ile)
n.1954G>C
gnomAD v4
17g.63496870G>TCA400567033ACEc.3576G>T (p.Met1192Ile)
c.1854G>T (p.Met618Ile)
c.1731G>T (p.Met577Ile)
n.586G>T
c.*1331G>T (n.*1331G>T)
c.*1305G>T (n.*1305G>T)
c.263G>T
n.450G>T
c.3027G>T (p.Met1009Ile)
c.1914G>T (p.Met638Ile)
c.3009G>T (p.Met1003Ile)
c.2724G>T (p.Met908Ile)
c.1191G>T (p.Met397Ile)
n.1954G>T
17g.63496871A>CCA400567037ACEc.3577A>C (p.Ser1193Arg)
c.1855A>C (p.Ser619Arg)
c.1732A>C (p.Ser578Arg)
n.587A>C
c.*1332A>C (n.*1332A>C)
c.*1306A>C (n.*1306A>C)
c.264A>C
n.451A>C
c.3028A>C (p.Ser1010Arg)
c.1915A>C (p.Ser639Arg)
c.3010A>C (p.Ser1004Arg)
c.2725A>C (p.Ser909Arg)
c.1192A>C (p.Ser398Arg)
n.1955A>C
17g.63496871A>GCA400567045ACEc.3577A>G (p.Ser1193Gly)
c.1855A>G (p.Ser619Gly)
c.1732A>G (p.Ser578Gly)
n.587A>G
c.*1332A>G (n.*1332A>G)
c.*1306A>G (n.*1306A>G)
c.264A>G
n.451A>G
c.3028A>G (p.Ser1010Gly)
c.1915A>G (p.Ser639Gly)
c.3010A>G (p.Ser1004Gly)
c.2725A>G (p.Ser909Gly)
c.1192A>G (p.Ser398Gly)
n.1955A>G
17g.63496871A>TCA400567046ACEc.3577A>T (p.Ser1193Cys)
c.1855A>T (p.Ser619Cys)
c.1732A>T (p.Ser578Cys)
n.587A>T
c.*1332A>T (n.*1332A>T)
c.*1306A>T (n.*1306A>T)
c.264A>T
n.451A>T
c.3028A>T (p.Ser1010Cys)
c.1915A>T (p.Ser639Cys)
c.3010A>T (p.Ser1004Cys)
c.2725A>T (p.Ser909Cys)
c.1192A>T (p.Ser398Cys)
n.1955A>T
17g.63496872G>ACA8700555ACEc.3578G>A (p.Ser1193Asn)
c.1856G>A (p.Ser619Asn)
c.1733G>A (p.Ser578Asn)
n.588G>A
c.*1333G>A (n.*1333G>A)
c.*1307G>A (n.*1307G>A)
c.265G>A
n.452G>A
c.3029G>A (p.Ser1010Asn)
c.1916G>A (p.Ser639Asn)
c.3011G>A (p.Ser1004Asn)
c.2726G>A (p.Ser909Asn)
c.1193G>A (p.Ser398Asn)
n.1956G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496872G>CCA400567052ACEc.3578G>C (p.Ser1193Thr)
c.1856G>C (p.Ser619Thr)
c.1733G>C (p.Ser578Thr)
n.588G>C
c.*1333G>C (n.*1333G>C)
c.*1307G>C (n.*1307G>C)
c.265G>C
n.452G>C
c.3029G>C (p.Ser1010Thr)
c.1916G>C (p.Ser639Thr)
c.3011G>C (p.Ser1004Thr)
c.2726G>C (p.Ser909Thr)
c.1193G>C (p.Ser398Thr)
n.1956G>C
17g.63496872G=CA2269949783ACEc.3578G= (p.Ser1193=)
c.1856G= (p.Ser619=)
c.1733G= (p.Ser578=)
n.588G=
c.*1333G= (n.*1333G=)
c.*1307G= (n.*1307G=)
c.265G=
n.452G=
c.3029G= (p.Ser1010=)
c.1916G= (p.Ser639=)
c.3011G= (p.Ser1004=)
c.2726G= (p.Ser909=)
c.1193G= (p.Ser398=)
n.1956G=
17g.63496872G>TCA400567057ACEc.3578G>T (p.Ser1193Ile)
c.1856G>T (p.Ser619Ile)
c.1733G>T (p.Ser578Ile)
n.588G>T
c.*1333G>T (n.*1333G>T)
c.*1307G>T (n.*1307G>T)
c.265G>T
n.452G>T
c.3029G>T (p.Ser1010Ile)
c.1916G>T (p.Ser639Ile)
c.3011G>T (p.Ser1004Ile)
c.2726G>T (p.Ser909Ile)
c.1193G>T (p.Ser398Ile)
n.1956G>T
dbSNP gnomAD v2 gnomAD v4
17g.63496873C>ACA400567059ACEc.3579C>A (p.Ser1193Arg)
c.1857C>A (p.Ser619Arg)
c.1734C>A (p.Ser578Arg)
n.589C>A
c.*1334C>A (n.*1334C>A)
c.*1308C>A (n.*1308C>A)
c.266C>A
n.453C>A
c.3030C>A (p.Ser1010Arg)
c.1917C>A (p.Ser639Arg)
c.3012C>A (p.Ser1004Arg)
c.2727C>A (p.Ser909Arg)
c.1194C>A (p.Ser398Arg)
n.1957C>A
17g.63496873C=CA2269949784ACEc.3579C= (p.Ser1193=)
c.1857C= (p.Ser619=)
c.1734C= (p.Ser578=)
n.589C=
c.*1334C= (n.*1334C=)
c.*1308C= (n.*1308C=)
c.266C=
n.453C=
c.3030C= (p.Ser1010=)
c.1917C= (p.Ser639=)
c.3012C= (p.Ser1004=)
c.2727C= (p.Ser909=)
c.1194C= (p.Ser398=)
n.1957C=
17g.63496873C>GCA400567062ACEc.3579C>G (p.Ser1193Arg)
c.1857C>G (p.Ser619Arg)
c.1734C>G (p.Ser578Arg)
n.589C>G
c.*1334C>G (n.*1334C>G)
c.*1308C>G (n.*1308C>G)
c.266C>G
n.453C>G
c.3030C>G (p.Ser1010Arg)
c.1917C>G (p.Ser639Arg)
c.3012C>G (p.Ser1004Arg)
c.2727C>G (p.Ser909Arg)
c.1194C>G (p.Ser398Arg)
n.1957C>G
17g.63496873C>TCA8700556ACEc.3579C>T (p.Ser1193=)
c.1857C>T (p.Ser619=)
c.1734C>T (p.Ser578=)
n.589C>T
c.*1334C>T (n.*1334C>T)
c.*1308C>T (n.*1308C>T)
c.266C>T
n.453C>T
c.3030C>T (p.Ser1010=)
c.1917C>T (p.Ser639=)
c.3012C>T (p.Ser1004=)
c.2727C>T (p.Ser909=)
c.1194C>T (p.Ser398=)
n.1957C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496874G>ACA8700557ACEc.3580G>A (p.Ala1194Thr)
c.1858G>A (p.Ala620Thr)
c.1735G>A (p.Ala579Thr)
n.590G>A
c.*1335G>A (n.*1335G>A)
c.*1309G>A (n.*1309G>A)
c.267G>A
n.454G>A
c.3031G>A (p.Ala1011Thr)
c.1918G>A (p.Ala640Thr)
c.3013G>A (p.Ala1005Thr)
c.2728G>A (p.Ala910Thr)
c.1195G>A (p.Ala399Thr)
n.1958G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.63496874G>CCA400567066ACEc.3580G>C (p.Ala1194Pro)
c.1858G>C (p.Ala620Pro)
c.1735G>C (p.Ala579Pro)
n.590G>C
c.*1335G>C (n.*1335G>C)
c.*1309G>C (n.*1309G>C)
c.267G>C
n.454G>C
c.3031G>C (p.Ala1011Pro)
c.1918G>C (p.Ala640Pro)
c.3013G>C (p.Ala1005Pro)
c.2728G>C (p.Ala910Pro)
c.1195G>C (p.Ala399Pro)
n.1958G>C
17g.63496874G=CA2269949785ACEc.3580G= (p.Ala1194=)
c.1858G= (p.Ala620=)
c.1735G= (p.Ala579=)
n.590G=
c.*1335G= (n.*1335G=)
c.*1309G= (n.*1309G=)
c.267G=
n.454G=
c.3031G= (p.Ala1011=)
c.1918G= (p.Ala640=)
c.3013G= (p.Ala1005=)
c.2728G= (p.Ala910=)
c.1195G= (p.Ala399=)
n.1958G=
17g.63496874G>TCA8700558ACEc.3580G>T (p.Ala1194Ser)
c.1858G>T (p.Ala620Ser)
c.1735G>T (p.Ala579Ser)
n.590G>T
c.*1335G>T (n.*1335G>T)
c.*1309G>T (n.*1309G>T)
c.267G>T
n.454G>T
c.3031G>T (p.Ala1011Ser)
c.1918G>T (p.Ala640Ser)
c.3013G>T (p.Ala1005Ser)
c.2728G>T (p.Ala910Ser)
c.1195G>T (p.Ala399Ser)
n.1958G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496875C>ACA292890123ACEc.3581C>A (p.Ala1194Asp)
c.1859C>A (p.Ala620Asp)
c.1736C>A (p.Ala579Asp)
n.591C>A
c.*1336C>A (n.*1336C>A)
c.*1310C>A (n.*1310C>A)
c.268C>A
n.455C>A
c.3032C>A (p.Ala1011Asp)
c.1919C>A (p.Ala640Asp)
c.3014C>A (p.Ala1005Asp)
c.2729C>A (p.Ala910Asp)
c.1196C>A (p.Ala399Asp)
n.1959C>A
dbSNP gnomAD v4
17g.63496875C=CA2269949786ACEc.3581C= (p.Ala1194=)
c.1859C= (p.Ala620=)
c.1736C= (p.Ala579=)
n.591C=
c.*1336C= (n.*1336C=)
c.*1310C= (n.*1310C=)
c.268C=
n.455C=
c.3032C= (p.Ala1011=)
c.1919C= (p.Ala640=)
c.3014C= (p.Ala1005=)
c.2729C= (p.Ala910=)
c.1196C= (p.Ala399=)
n.1959C=
17g.63496875C>GCA400567070ACEc.3581C>G (p.Ala1194Gly)
c.1859C>G (p.Ala620Gly)
c.1736C>G (p.Ala579Gly)
n.591C>G
c.*1336C>G (n.*1336C>G)
c.*1310C>G (n.*1310C>G)
c.268C>G
n.455C>G
c.3032C>G (p.Ala1011Gly)
c.1919C>G (p.Ala640Gly)
c.3014C>G (p.Ala1005Gly)
c.2729C>G (p.Ala910Gly)
c.1196C>G (p.Ala399Gly)
n.1959C>G
17g.63496875C>TCA400567068ACEc.3581C>T (p.Ala1194Val)
c.1859C>T (p.Ala620Val)
c.1736C>T (p.Ala579Val)
n.591C>T
c.*1336C>T (n.*1336C>T)
c.*1310C>T (n.*1310C>T)
c.268C>T
n.455C>T
c.3032C>T (p.Ala1011Val)
c.1919C>T (p.Ala640Val)
c.3014C>T (p.Ala1005Val)
c.2729C>T (p.Ala910Val)
c.1196C>T (p.Ala399Val)
n.1959C>T
17g.63496876C>ACA501342356ACEc.3582C>A (p.Ala1194=)
c.1860C>A (p.Ala620=)
c.1737C>A (p.Ala579=)
n.592C>A
c.*1337C>A (n.*1337C>A)
c.*1311C>A (n.*1311C>A)
c.269C>A
n.456C>A
c.3033C>A (p.Ala1011=)
c.1920C>A (p.Ala640=)
c.3015C>A (p.Ala1005=)
c.2730C>A (p.Ala910=)
c.1197C>A (p.Ala399=)
n.1960C>A
17g.63496876C>GCA501342358ACEc.3582C>G (p.Ala1194=)
c.1860C>G (p.Ala620=)
c.1737C>G (p.Ala579=)
n.592C>G
c.*1337C>G (n.*1337C>G)
c.*1311C>G (n.*1311C>G)
c.269C>G
n.456C>G
c.3033C>G (p.Ala1011=)
c.1920C>G (p.Ala640=)
c.3015C>G (p.Ala1005=)
c.2730C>G (p.Ala910=)
c.1197C>G (p.Ala399=)
n.1960C>G
17g.63496876C>TCA501342359ACEc.3582C>T (p.Ala1194=)
c.1860C>T (p.Ala620=)
c.1737C>T (p.Ala579=)
n.592C>T
c.*1337C>T (n.*1337C>T)
c.*1311C>T (n.*1311C>T)
c.269C>T
n.456C>T
c.3033C>T (p.Ala1011=)
c.1920C>T (p.Ala640=)
c.3015C>T (p.Ala1005=)
c.2730C>T (p.Ala910=)
c.1197C>T (p.Ala399=)
n.1960C>T
17g.63496877T>ACA400567075ACEc.3583T>A (p.Ser1195Thr)
c.1861T>A (p.Ser621Thr)
c.1738T>A (p.Ser580Thr)
n.593T>A
c.*1338T>A (n.*1338T>A)
c.*1312T>A (n.*1312T>A)
c.270T>A
n.457T>A
c.3034T>A (p.Ser1012Thr)
c.1921T>A (p.Ser641Thr)
c.3016T>A (p.Ser1006Thr)
c.2731T>A (p.Ser911Thr)
c.1198T>A (p.Ser400Thr)
n.1961T>A
17g.63496877T>CCA400567078ACEc.3583T>C (p.Ser1195Pro)
c.1861T>C (p.Ser621Pro)
c.1738T>C (p.Ser580Pro)
n.593T>C
c.*1338T>C (n.*1338T>C)
c.*1312T>C (n.*1312T>C)
c.270T>C
n.457T>C
c.3034T>C (p.Ser1012Pro)
c.1921T>C (p.Ser641Pro)
c.3016T>C (p.Ser1006Pro)
c.2731T>C (p.Ser911Pro)
c.1198T>C (p.Ser400Pro)
n.1961T>C
dbSNP gnomAD v2 gnomAD v4
17g.63496877T>GCA400567082ACEc.3583T>G (p.Ser1195Ala)
c.1861T>G (p.Ser621Ala)
c.1738T>G (p.Ser580Ala)
n.593T>G
c.*1338T>G (n.*1338T>G)
c.*1312T>G (n.*1312T>G)
c.270T>G
n.457T>G
c.3034T>G (p.Ser1012Ala)
c.1921T>G (p.Ser641Ala)
c.3016T>G (p.Ser1006Ala)
c.2731T>G (p.Ser911Ala)
c.1198T>G (p.Ser400Ala)
n.1961T>G
17g.63496877T=CA2269949787ACEc.3583T= (p.Ser1195=)
c.1861T= (p.Ser621=)
c.1738T= (p.Ser580=)
n.593T=
c.*1338T= (n.*1338T=)
c.*1312T= (n.*1312T=)
c.270T=
n.457T=
c.3034T= (p.Ser1012=)
c.1921T= (p.Ser641=)
c.3016T= (p.Ser1006=)
c.2731T= (p.Ser911=)
c.1198T= (p.Ser400=)
n.1961T=
17g.63496878C>ACA400567083ACEc.3584C>A (p.Ser1195Ter)
c.1862C>A (p.Ser621Ter)
c.1739C>A (p.Ser580Ter)
n.594C>A
c.*1339C>A (n.*1339C>A)
c.*1313C>A (n.*1313C>A)
c.271C>A
n.458C>A
c.3035C>A (p.Ser1012Ter)
c.1922C>A (p.Ser641Ter)
c.3017C>A (p.Ser1006Ter)
c.2732C>A (p.Ser911Ter)
c.1199C>A (p.Ser400Ter)
n.1962C>A
17g.63496878C=CA2269949788ACEc.3584C= (p.Ser1195=)
c.1862C= (p.Ser621=)
c.1739C= (p.Ser580=)
n.594C=
c.*1339C= (n.*1339C=)
c.*1313C= (n.*1313C=)
c.271C=
n.458C=
c.3035C= (p.Ser1012=)
c.1922C= (p.Ser641=)
c.3017C= (p.Ser1006=)
c.2732C= (p.Ser911=)
c.1199C= (p.Ser400=)
n.1962C=
17g.63496878C>GCA400567084ACEc.3584C>G (p.Ser1195Trp)
c.1862C>G (p.Ser621Trp)
c.1739C>G (p.Ser580Trp)
n.594C>G
c.*1339C>G (n.*1339C>G)
c.*1313C>G (n.*1313C>G)
c.271C>G
n.458C>G
c.3035C>G (p.Ser1012Trp)
c.1922C>G (p.Ser641Trp)
c.3017C>G (p.Ser1006Trp)
c.2732C>G (p.Ser911Trp)
c.1199C>G (p.Ser400Trp)
n.1962C>G
17g.63496878C>TCA8700559ACEc.3584C>T (p.Ser1195Leu)
c.1862C>T (p.Ser621Leu)
c.1739C>T (p.Ser580Leu)
n.594C>T
c.*1339C>T (n.*1339C>T)
c.*1313C>T (n.*1313C>T)
c.271C>T
n.458C>T
c.3035C>T (p.Ser1012Leu)
c.1922C>T (p.Ser641Leu)
c.3017C>T (p.Ser1006Leu)
c.2732C>T (p.Ser911Leu)
c.1199C>T (p.Ser400Leu)
n.1962C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496879G>ACA8700560ACEc.3585G>A (p.Ser1195=)
c.1863G>A (p.Ser621=)
c.1740G>A (p.Ser580=)
n.595G>A
c.*1340G>A (n.*1340G>A)
c.*1314G>A (n.*1314G>A)
c.272G>A
n.459G>A
c.3036G>A (p.Ser1012=)
c.1923G>A (p.Ser641=)
c.3018G>A (p.Ser1006=)
c.2733G>A (p.Ser911=)
c.1200G>A (p.Ser400=)
n.1963G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496879G>CCA501342365ACEc.3585G>C (p.Ser1195=)
c.1863G>C (p.Ser621=)
c.1740G>C (p.Ser580=)
n.595G>C
c.*1340G>C (n.*1340G>C)
c.*1314G>C (n.*1314G>C)
c.272G>C
n.459G>C
c.3036G>C (p.Ser1012=)
c.1923G>C (p.Ser641=)
c.3018G>C (p.Ser1006=)
c.2733G>C (p.Ser911=)
c.1200G>C (p.Ser400=)
n.1963G>C
17g.63496879G=CA2269949789ACEc.3585G= (p.Ser1195=)
c.1863G= (p.Ser621=)
c.1740G= (p.Ser580=)
n.595G=
c.*1340G= (n.*1340G=)
c.*1314G= (n.*1314G=)
c.272G=
n.459G=
c.3036G= (p.Ser1012=)
c.1923G= (p.Ser641=)
c.3018G= (p.Ser1006=)
c.2733G= (p.Ser911=)
c.1200G= (p.Ser400=)
n.1963G=
17g.63496879G>TCA501342364ACEc.3585G>T (p.Ser1195=)
c.1863G>T (p.Ser621=)
c.1740G>T (p.Ser580=)
n.595G>T
c.*1340G>T (n.*1340G>T)
c.*1314G>T (n.*1314G>T)
c.272G>T
n.459G>T
c.3036G>T (p.Ser1012=)
c.1923G>T (p.Ser641=)
c.3018G>T (p.Ser1006=)
c.2733G>T (p.Ser911=)
c.1200G>T (p.Ser400=)
n.1963G>T
17g.63496880G>ACA8700561ACEc.3586G>A (p.Ala1196Thr)
c.1864G>A (p.Ala622Thr)
c.1741G>A (p.Ala581Thr)
n.596G>A
c.*1341G>A (n.*1341G>A)
c.*1315G>A (n.*1315G>A)
c.273G>A
n.460G>A
c.3037G>A (p.Ala1013Thr)
c.1924G>A (p.Ala642Thr)
c.3019G>A (p.Ala1007Thr)
c.2734G>A (p.Ala912Thr)
c.1201G>A (p.Ala401Thr)
n.1964G>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63496880G>CCA400567094ACEc.3586G>C (p.Ala1196Pro)
c.1864G>C (p.Ala622Pro)
c.1741G>C (p.Ala581Pro)
n.596G>C
c.*1341G>C (n.*1341G>C)
c.*1315G>C (n.*1315G>C)
c.273G>C
n.460G>C
c.3037G>C (p.Ala1013Pro)
c.1924G>C (p.Ala642Pro)
c.3019G>C (p.Ala1007Pro)
c.2734G>C (p.Ala912Pro)
c.1201G>C (p.Ala401Pro)
n.1964G>C
17g.63496880G=CA2269949790ACEc.3586G= (p.Ala1196=)
c.1864G= (p.Ala622=)
c.1741G= (p.Ala581=)
n.596G=
c.*1341G= (n.*1341G=)
c.*1315G= (n.*1315G=)
c.273G=
n.460G=
c.3037G= (p.Ala1013=)
c.1924G= (p.Ala642=)
c.3019G= (p.Ala1007=)
c.2734G= (p.Ala912=)
c.1201G= (p.Ala401=)
n.1964G=
17g.63496880G>TCA400567101ACEc.3586G>T (p.Ala1196Ser)
c.1864G>T (p.Ala622Ser)
c.1741G>T (p.Ala581Ser)
n.596G>T
c.*1341G>T (n.*1341G>T)
c.*1315G>T (n.*1315G>T)
c.273G>T
n.460G>T
c.3037G>T (p.Ala1013Ser)
c.1924G>T (p.Ala642Ser)
c.3019G>T (p.Ala1007Ser)
c.2734G>T (p.Ala912Ser)
c.1201G>T (p.Ala401Ser)
n.1964G>T
17g.63496881C>ACA400567111ACEc.3587C>A (p.Ala1196Asp)
c.1865C>A (p.Ala622Asp)
c.1742C>A (p.Ala581Asp)
n.597C>A
c.*1342C>A (n.*1342C>A)
c.*1316C>A (n.*1316C>A)
c.274C>A
n.461C>A
c.3038C>A (p.Ala1013Asp)
c.1925C>A (p.Ala642Asp)
c.3020C>A (p.Ala1007Asp)
c.2735C>A (p.Ala912Asp)
c.1202C>A (p.Ala401Asp)
n.1965C>A
17g.63496881C>GCA400567114ACEc.3587C>G (p.Ala1196Gly)
c.1865C>G (p.Ala622Gly)
c.1742C>G (p.Ala581Gly)
n.597C>G
c.*1342C>G (n.*1342C>G)
c.*1316C>G (n.*1316C>G)
c.274C>G
n.461C>G
c.3038C>G (p.Ala1013Gly)
c.1925C>G (p.Ala642Gly)
c.3020C>G (p.Ala1007Gly)
c.2735C>G (p.Ala912Gly)
c.1202C>G (p.Ala401Gly)
n.1965C>G
17g.63496881C>TCA400567115ACEc.3587C>T (p.Ala1196Val)
c.1865C>T (p.Ala622Val)
c.1742C>T (p.Ala581Val)
n.597C>T
c.*1342C>T (n.*1342C>T)
c.*1316C>T (n.*1316C>T)
c.274C>T
n.461C>T
c.3038C>T (p.Ala1013Val)
c.1925C>T (p.Ala642Val)
c.3020C>T (p.Ala1007Val)
c.2735C>T (p.Ala912Val)
c.1202C>T (p.Ala401Val)
n.1965C>T
gnomAD v4
17g.63496882C>ACA501342369ACEc.3588C>A (p.Ala1196=)
c.1866C>A (p.Ala622=)
c.1743C>A (p.Ala581=)
n.598C>A
c.*1343C>A (n.*1343C>A)
c.*1317C>A (n.*1317C>A)
c.275C>A
n.462C>A
c.3039C>A (p.Ala1013=)
c.1926C>A (p.Ala642=)
c.3021C>A (p.Ala1007=)
c.2736C>A (p.Ala912=)
c.1203C>A (p.Ala401=)
n.1966C>A
dbSNP
17g.63496882C=CA2269949791ACEc.3588C= (p.Ala1196=)
c.1866C= (p.Ala622=)
c.1743C= (p.Ala581=)
n.598C=
c.*1343C= (n.*1343C=)
c.*1317C= (n.*1317C=)
c.275C=
n.462C=
c.3039C= (p.Ala1013=)
c.1926C= (p.Ala642=)
c.3021C= (p.Ala1007=)
c.2736C= (p.Ala912=)
c.1203C= (p.Ala401=)
n.1966C=
17g.63496882C>GCA501342370ACEc.3588C>G (p.Ala1196=)
c.1866C>G (p.Ala622=)
c.1743C>G (p.Ala581=)
n.598C>G
c.*1343C>G (n.*1343C>G)
c.*1317C>G (n.*1317C>G)
c.275C>G
n.462C>G
c.3039C>G (p.Ala1013=)
c.1926C>G (p.Ala642=)
c.3021C>G (p.Ala1007=)
c.2736C>G (p.Ala912=)
c.1203C>G (p.Ala401=)
n.1966C>G
17g.63496882C>TCA501342371ACEc.3588C>T (p.Ala1196=)
c.1866C>T (p.Ala622=)
c.1743C>T (p.Ala581=)
n.598C>T
c.*1343C>T (n.*1343C>T)
c.*1317C>T (n.*1317C>T)
c.275C>T
n.462C>T
c.3039C>T (p.Ala1013=)
c.1926C>T (p.Ala642=)
c.3021C>T (p.Ala1007=)
c.2736C>T (p.Ala912=)
c.1203C>T (p.Ala401=)
n.1966C>T
17g.63496883A=CA2269949792ACEc.3589A= (p.Met1197=)
c.1867A= (p.Met623=)
c.1744A= (p.Met582=)
n.599A=
c.*1344A= (n.*1344A=)
c.*1318A= (n.*1318A=)
c.276A=
n.463A=
c.3040A= (p.Met1014=)
c.1927A= (p.Met643=)
c.3022A= (p.Met1008=)
c.2737A= (p.Met913=)
c.1204A= (p.Met402=)
n.1967A=
17g.63496883A>CCA400567126ACEc.3589A>C (p.Met1197Leu)
c.1867A>C (p.Met623Leu)
c.1744A>C (p.Met582Leu)
n.599A>C
c.*1344A>C (n.*1344A>C)
c.*1318A>C (n.*1318A>C)
c.276A>C
n.463A>C
c.3040A>C (p.Met1014Leu)
c.1927A>C (p.Met643Leu)
c.3022A>C (p.Met1008Leu)
c.2737A>C (p.Met913Leu)
c.1204A>C (p.Met402Leu)
n.1967A>C
17g.63496883A>GCA8700562ACEc.3589A>G (p.Met1197Val)
c.1867A>G (p.Met623Val)
c.1744A>G (p.Met582Val)
n.599A>G
c.*1344A>G (n.*1344A>G)
c.*1318A>G (n.*1318A>G)
c.276A>G
n.463A>G
c.3040A>G (p.Met1014Val)
c.1927A>G (p.Met643Val)
c.3022A>G (p.Met1008Val)
c.2737A>G (p.Met913Val)
c.1204A>G (p.Met402Val)
n.1967A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496883A>TCA400567118ACEc.3589A>T (p.Met1197Leu)
c.1867A>T (p.Met623Leu)
c.1744A>T (p.Met582Leu)
n.599A>T
c.*1344A>T (n.*1344A>T)
c.*1318A>T (n.*1318A>T)
c.276A>T
n.463A>T
c.3040A>T (p.Met1014Leu)
c.1927A>T (p.Met643Leu)
c.3022A>T (p.Met1008Leu)
c.2737A>T (p.Met913Leu)
c.1204A>T (p.Met402Leu)
n.1967A>T
17g.63496884T>ACA400567148ACEc.3590T>A (p.Met1197Lys)
c.1868T>A (p.Met623Lys)
c.1745T>A (p.Met582Lys)
n.600T>A
c.*1345T>A (n.*1345T>A)
c.*1319T>A (n.*1319T>A)
c.277T>A
n.464T>A
c.3041T>A (p.Met1014Lys)
c.1928T>A (p.Met643Lys)
c.3023T>A (p.Met1008Lys)
c.2738T>A (p.Met913Lys)
c.1205T>A (p.Met402Lys)
n.1968T>A
17g.63496884T>CCA400567136ACEc.3590T>C (p.Met1197Thr)
c.1868T>C (p.Met623Thr)
c.1745T>C (p.Met582Thr)
n.600T>C
c.*1345T>C (n.*1345T>C)
c.*1319T>C (n.*1319T>C)
c.277T>C
n.464T>C
c.3041T>C (p.Met1014Thr)
c.1928T>C (p.Met643Thr)
c.3023T>C (p.Met1008Thr)
c.2738T>C (p.Met913Thr)
c.1205T>C (p.Met402Thr)
n.1968T>C
gnomAD v4 COSMIC COSMIC COSMIC
17g.63496884T>GCA400567144ACEc.3590T>G (p.Met1197Arg)
c.1868T>G (p.Met623Arg)
c.1745T>G (p.Met582Arg)
n.600T>G
c.*1345T>G (n.*1345T>G)
c.*1319T>G (n.*1319T>G)
c.277T>G
n.464T>G
c.3041T>G (p.Met1014Arg)
c.1928T>G (p.Met643Arg)
c.3023T>G (p.Met1008Arg)
c.2738T>G (p.Met913Arg)
c.1205T>G (p.Met402Arg)
n.1968T>G
17g.63496885G>ACA400567155ACEc.3591G>A (p.Met1197Ile)
c.1869G>A (p.Met623Ile)
c.1746G>A (p.Met582Ile)
n.601G>A
c.*1346G>A (n.*1346G>A)
c.*1320G>A (n.*1320G>A)
c.278G>A
n.465G>A
c.3042G>A (p.Met1014Ile)
c.1929G>A (p.Met643Ile)
c.3024G>A (p.Met1008Ile)
c.2739G>A (p.Met913Ile)
c.1206G>A (p.Met402Ile)
n.1969G>A
gnomAD v4
17g.63496885G>CCA400567170ACEc.3591G>C (p.Met1197Ile)
c.1869G>C (p.Met623Ile)
c.1746G>C (p.Met582Ile)
n.601G>C
c.*1346G>C (n.*1346G>C)
c.*1320G>C (n.*1320G>C)
c.278G>C
n.465G>C
c.3042G>C (p.Met1014Ile)
c.1929G>C (p.Met643Ile)
c.3024G>C (p.Met1008Ile)
c.2739G>C (p.Met913Ile)
c.1206G>C (p.Met402Ile)
n.1969G>C
17g.63496885G>TCA400567173ACEc.3591G>T (p.Met1197Ile)
c.1869G>T (p.Met623Ile)
c.1746G>T (p.Met582Ile)
n.601G>T
c.*1346G>T (n.*1346G>T)
c.*1320G>T (n.*1320G>T)
c.278G>T
n.465G>T
c.3042G>T (p.Met1014Ile)
c.1929G>T (p.Met643Ile)
c.3024G>T (p.Met1008Ile)
c.2739G>T (p.Met913Ile)
c.1206G>T (p.Met402Ile)
n.1969G>T
17g.63496886T>ACA400567182ACEc.3592T>A (p.Leu1198Met)
c.1870T>A (p.Leu624Met)
c.1747T>A (p.Leu583Met)
n.602T>A
c.*1347T>A (n.*1347T>A)
c.*1321T>A (n.*1321T>A)
c.279T>A
n.466T>A
c.3043T>A (p.Leu1015Met)
c.1930T>A (p.Leu644Met)
c.3025T>A (p.Leu1009Met)
c.2740T>A (p.Leu914Met)
c.1207T>A (p.Leu403Met)
n.1970T>A
17g.63496886T>CCA501342375ACEc.3592T>C (p.Leu1198=)
c.1870T>C (p.Leu624=)
c.1747T>C (p.Leu583=)
n.602T>C
c.*1347T>C (n.*1347T>C)
c.*1321T>C (n.*1321T>C)
c.279T>C
n.466T>C
c.3043T>C (p.Leu1015=)
c.1930T>C (p.Leu644=)
c.3025T>C (p.Leu1009=)
c.2740T>C (p.Leu914=)
c.1207T>C (p.Leu403=)
n.1970T>C
dbSNP gnomAD v2 gnomAD v4
17g.63496886T>GCA400567189ACEc.3592T>G (p.Leu1198Val)
c.1870T>G (p.Leu624Val)
c.1747T>G (p.Leu583Val)
n.602T>G
c.*1347T>G (n.*1347T>G)
c.*1321T>G (n.*1321T>G)
c.279T>G
n.466T>G
c.3043T>G (p.Leu1015Val)
c.1930T>G (p.Leu644Val)
c.3025T>G (p.Leu1009Val)
c.2740T>G (p.Leu914Val)
c.1207T>G (p.Leu403Val)
n.1970T>G
17g.63496886T=CA2269949793ACEc.3592T= (p.Leu1198=)
c.1870T= (p.Leu624=)
c.1747T= (p.Leu583=)
n.602T=
c.*1347T= (n.*1347T=)
c.*1321T= (n.*1321T=)
c.279T=
n.466T=
c.3043T= (p.Leu1015=)
c.1930T= (p.Leu644=)
c.3025T= (p.Leu1009=)
c.2740T= (p.Leu914=)
c.1207T= (p.Leu403=)
n.1970T=
17g.63496887T>ACA400567194ACEc.3593T>A (p.Leu1198Ter)
c.1871T>A (p.Leu624Ter)
c.1748T>A (p.Leu583Ter)
n.603T>A
c.*1348T>A (n.*1348T>A)
c.*1322T>A (n.*1322T>A)
c.280T>A
n.467T>A
c.3044T>A (p.Leu1015Ter)
c.1931T>A (p.Leu644Ter)
c.3026T>A (p.Leu1009Ter)
c.2741T>A (p.Leu914Ter)
c.1208T>A (p.Leu403Ter)
n.1971T>A
17g.63496887T>CCA400567198ACEc.3593T>C (p.Leu1198Ser)
c.1871T>C (p.Leu624Ser)
c.1748T>C (p.Leu583Ser)
n.603T>C
c.*1348T>C (n.*1348T>C)
c.*1322T>C (n.*1322T>C)
c.280T>C
n.467T>C
c.3044T>C (p.Leu1015Ser)
c.1931T>C (p.Leu644Ser)
c.3026T>C (p.Leu1009Ser)
c.2741T>C (p.Leu914Ser)
c.1208T>C (p.Leu403Ser)
n.1971T>C
17g.63496887T>GCA400567202ACEc.3593T>G (p.Leu1198Trp)
c.1871T>G (p.Leu624Trp)
c.1748T>G (p.Leu583Trp)
n.603T>G
c.*1348T>G (n.*1348T>G)
c.*1322T>G (n.*1322T>G)
c.280T>G
n.467T>G
c.3044T>G (p.Leu1015Trp)
c.1931T>G (p.Leu644Trp)
c.3026T>G (p.Leu1009Trp)
c.2741T>G (p.Leu914Trp)
c.1208T>G (p.Leu403Trp)
n.1971T>G
gnomAD v4
17g.63496888G>ACA501342377ACEc.3594G>A (p.Leu1198=)
c.1872G>A (p.Leu624=)
c.1749G>A (p.Leu583=)
n.604G>A
c.*1349G>A (n.*1349G>A)
c.*1323G>A (n.*1323G>A)
c.281G>A
n.468G>A
c.3045G>A (p.Leu1015=)
c.1932G>A (p.Leu644=)
c.3027G>A (p.Leu1009=)
c.2742G>A (p.Leu914=)
c.1209G>A (p.Leu403=)
n.1972G>A
gnomAD v4
17g.63496888G>CCA400567207ACEc.3594G>C (p.Leu1198Phe)
c.1872G>C (p.Leu624Phe)
c.1749G>C (p.Leu583Phe)
n.604G>C
c.*1349G>C (n.*1349G>C)
c.*1323G>C (n.*1323G>C)
c.281G>C
n.468G>C
c.3045G>C (p.Leu1015Phe)
c.1932G>C (p.Leu644Phe)
c.3027G>C (p.Leu1009Phe)
c.2742G>C (p.Leu914Phe)
c.1209G>C (p.Leu403Phe)
n.1972G>C
17g.63496888G>TCA400567217ACEc.3594G>T (p.Leu1198Phe)
c.1872G>T (p.Leu624Phe)
c.1749G>T (p.Leu583Phe)
n.604G>T
c.*1349G>T (n.*1349G>T)
c.*1323G>T (n.*1323G>T)
c.281G>T
n.468G>T
c.3045G>T (p.Leu1015Phe)
c.1932G>T (p.Leu644Phe)
c.3027G>T (p.Leu1009Phe)
c.2742G>T (p.Leu914Phe)
c.1209G>T (p.Leu403Phe)
n.1972G>T
17g.63496889A>CCA400567224ACEc.3595A>C (p.Ser1199Arg)
c.1873A>C (p.Ser625Arg)
c.1750A>C (p.Ser584Arg)
n.605A>C
c.*1350A>C (n.*1350A>C)
c.*1324A>C (n.*1324A>C)
c.282A>C
n.469A>C
c.3046A>C (p.Ser1016Arg)
c.1933A>C (p.Ser645Arg)
c.3028A>C (p.Ser1010Arg)
c.2743A>C (p.Ser915Arg)
c.1210A>C (p.Ser404Arg)
n.1973A>C
17g.63496889A>GCA400567228ACEc.3595A>G (p.Ser1199Gly)
c.1873A>G (p.Ser625Gly)
c.1750A>G (p.Ser584Gly)
n.605A>G
c.*1350A>G (n.*1350A>G)
c.*1324A>G (n.*1324A>G)
c.282A>G
n.469A>G
c.3046A>G (p.Ser1016Gly)
c.1933A>G (p.Ser645Gly)
c.3028A>G (p.Ser1010Gly)
c.2743A>G (p.Ser915Gly)
c.1210A>G (p.Ser404Gly)
n.1973A>G
17g.63496889A>TCA400567220ACEc.3595A>T (p.Ser1199Cys)
c.1873A>T (p.Ser625Cys)
c.1750A>T (p.Ser584Cys)
n.605A>T
c.*1350A>T (n.*1350A>T)
c.*1324A>T (n.*1324A>T)
c.282A>T
n.469A>T
c.3046A>T (p.Ser1016Cys)
c.1933A>T (p.Ser645Cys)
c.3028A>T (p.Ser1010Cys)
c.2743A>T (p.Ser915Cys)
c.1210A>T (p.Ser404Cys)
n.1973A>T
17g.63496890G>ACA400567233ACEc.3596G>A (p.Ser1199Asn)
c.1874G>A (p.Ser625Asn)
c.1751G>A (p.Ser584Asn)
n.606G>A
c.*1351G>A (n.*1351G>A)
c.*1325G>A (n.*1325G>A)
c.283G>A
n.470G>A
c.3047G>A (p.Ser1016Asn)
c.1934G>A (p.Ser645Asn)
c.3029G>A (p.Ser1010Asn)
c.2744G>A (p.Ser915Asn)
c.1211G>A (p.Ser404Asn)
n.1974G>A
17g.63496890G>CCA400567236ACEc.3596G>C (p.Ser1199Thr)
c.1874G>C (p.Ser625Thr)
c.1751G>C (p.Ser584Thr)
n.606G>C
c.*1351G>C (n.*1351G>C)
c.*1325G>C (n.*1325G>C)
c.283G>C
n.470G>C
c.3047G>C (p.Ser1016Thr)
c.1934G>C (p.Ser645Thr)
c.3029G>C (p.Ser1010Thr)
c.2744G>C (p.Ser915Thr)
c.1211G>C (p.Ser404Thr)
n.1974G>C
17g.63496890G>TCA400567239ACEc.3596G>T (p.Ser1199Ile)
c.1874G>T (p.Ser625Ile)
c.1751G>T (p.Ser584Ile)
n.606G>T
c.*1351G>T (n.*1351G>T)
c.*1325G>T (n.*1325G>T)
c.283G>T
n.470G>T
c.3047G>T (p.Ser1016Ile)
c.1934G>T (p.Ser645Ile)
c.3029G>T (p.Ser1010Ile)
c.2744G>T (p.Ser915Ile)
c.1211G>T (p.Ser404Ile)
n.1974G>T
gnomAD v4
17g.63496891C>ACA400567245ACEc.3597C>A (p.Ser1199Arg)
c.1875C>A (p.Ser625Arg)
c.1752C>A (p.Ser584Arg)
n.607C>A
c.*1352C>A (n.*1352C>A)
c.*1326C>A (n.*1326C>A)
c.284C>A
n.471C>A
c.3048C>A (p.Ser1016Arg)
c.1935C>A (p.Ser645Arg)
c.3030C>A (p.Ser1010Arg)
c.2745C>A (p.Ser915Arg)
c.1212C>A (p.Ser404Arg)
n.1975C>A
17g.63496891C>GCA400567248ACEc.3597C>G (p.Ser1199Arg)
c.1875C>G (p.Ser625Arg)
c.1752C>G (p.Ser584Arg)
n.607C>G
c.*1352C>G (n.*1352C>G)
c.*1326C>G (n.*1326C>G)
c.284C>G
n.471C>G
c.3048C>G (p.Ser1016Arg)
c.1935C>G (p.Ser645Arg)
c.3030C>G (p.Ser1010Arg)
c.2745C>G (p.Ser915Arg)
c.1212C>G (p.Ser404Arg)
n.1975C>G
17g.63496891C>TCA501342380ACEc.3597C>T (p.Ser1199=)
c.1875C>T (p.Ser625=)
c.1752C>T (p.Ser584=)
n.607C>T
c.*1352C>T (n.*1352C>T)
c.*1326C>T (n.*1326C>T)
c.284C>T
n.471C>T
c.3048C>T (p.Ser1016=)
c.1935C>T (p.Ser645=)
c.3030C>T (p.Ser1010=)
c.2745C>T (p.Ser915=)
c.1212C>T (p.Ser404=)
n.1975C>T
17g.63496892T>ACA400567259ACEc.3598T>A (p.Tyr1200Asn)
c.1876T>A (p.Tyr626Asn)
c.1753T>A (p.Tyr585Asn)
n.608T>A
c.*1353T>A (n.*1353T>A)
c.*1327T>A (n.*1327T>A)
c.285T>A
n.472T>A
c.3049T>A (p.Tyr1017Asn)
c.1936T>A (p.Tyr646Asn)
c.3031T>A (p.Tyr1011Asn)
c.2746T>A (p.Tyr916Asn)
c.1213T>A (p.Tyr405Asn)
n.1976T>A
17g.63496892T>CCA400567253ACEc.3598T>C (p.Tyr1200His)
c.1876T>C (p.Tyr626His)
c.1753T>C (p.Tyr585His)
n.608T>C
c.*1353T>C (n.*1353T>C)
c.*1327T>C (n.*1327T>C)
c.285T>C
n.472T>C
c.3049T>C (p.Tyr1017His)
c.1936T>C (p.Tyr646His)
c.3031T>C (p.Tyr1011His)
c.2746T>C (p.Tyr916His)
c.1213T>C (p.Tyr405His)
n.1976T>C
17g.63496892T>GCA400567258ACEc.3598T>G (p.Tyr1200Asp)
c.1876T>G (p.Tyr626Asp)
c.1753T>G (p.Tyr585Asp)
n.608T>G
c.*1353T>G (n.*1353T>G)
c.*1327T>G (n.*1327T>G)
c.285T>G
n.472T>G
c.3049T>G (p.Tyr1017Asp)
c.1936T>G (p.Tyr646Asp)
c.3031T>G (p.Tyr1011Asp)
c.2746T>G (p.Tyr916Asp)
c.1213T>G (p.Tyr405Asp)
n.1976T>G
17g.63496893A>CCA400567260ACEc.3599A>C (p.Tyr1200Ser)
c.1877A>C (p.Tyr626Ser)
c.1754A>C (p.Tyr585Ser)
n.609A>C
c.*1354A>C (n.*1354A>C)
c.*1328A>C (n.*1328A>C)
c.286A>C
n.473A>C
c.3050A>C (p.Tyr1017Ser)
c.1937A>C (p.Tyr646Ser)
c.3032A>C (p.Tyr1011Ser)
c.2747A>C (p.Tyr916Ser)
c.1214A>C (p.Tyr405Ser)
n.1977A>C
17g.63496893A>GCA400567263ACEc.3599A>G (p.Tyr1200Cys)
c.1877A>G (p.Tyr626Cys)
c.1754A>G (p.Tyr585Cys)
n.609A>G
c.*1354A>G (n.*1354A>G)
c.*1328A>G (n.*1328A>G)
c.286A>G
n.473A>G
c.3050A>G (p.Tyr1017Cys)
c.1937A>G (p.Tyr646Cys)
c.3032A>G (p.Tyr1011Cys)
c.2747A>G (p.Tyr916Cys)
c.1214A>G (p.Tyr405Cys)
n.1977A>G
17g.63496893A>TCA400567266ACEc.3599A>T (p.Tyr1200Phe)
c.1877A>T (p.Tyr626Phe)
c.1754A>T (p.Tyr585Phe)
n.609A>T
c.*1354A>T (n.*1354A>T)
c.*1328A>T (n.*1328A>T)
c.286A>T
n.473A>T
c.3050A>T (p.Tyr1017Phe)
c.1937A>T (p.Tyr646Phe)
c.3032A>T (p.Tyr1011Phe)
c.2747A>T (p.Tyr916Phe)
c.1214A>T (p.Tyr405Phe)
n.1977A>T
17g.63496894C>ACA400567268ACEc.3600C>A (p.Tyr1200Ter)
c.1878C>A (p.Tyr626Ter)
c.1755C>A (p.Tyr585Ter)
n.610C>A
c.*1355C>A (n.*1355C>A)
c.*1329C>A (n.*1329C>A)
c.287C>A
n.474C>A
c.3051C>A (p.Tyr1017Ter)
c.1938C>A (p.Tyr646Ter)
c.3033C>A (p.Tyr1011Ter)
c.2748C>A (p.Tyr916Ter)
c.1215C>A (p.Tyr405Ter)
n.1978C>A
17g.63496894C=CA2269949794ACEc.3600C= (p.Tyr1200=)
c.1878C= (p.Tyr626=)
c.1755C= (p.Tyr585=)
n.610C=
c.*1355C= (n.*1355C=)
c.*1329C= (n.*1329C=)
c.287C=
n.474C=
c.3051C= (p.Tyr1017=)
c.1938C= (p.Tyr646=)
c.3033C= (p.Tyr1011=)
c.2748C= (p.Tyr916=)
c.1215C= (p.Tyr405=)
n.1978C=
17g.63496894C>GCA400567273ACEc.3600C>G (p.Tyr1200Ter)
c.1878C>G (p.Tyr626Ter)
c.1755C>G (p.Tyr585Ter)
n.610C>G
c.*1355C>G (n.*1355C>G)
c.*1329C>G (n.*1329C>G)
c.287C>G
n.474C>G
c.3051C>G (p.Tyr1017Ter)
c.1938C>G (p.Tyr646Ter)
c.3033C>G (p.Tyr1011Ter)
c.2748C>G (p.Tyr916Ter)
c.1215C>G (p.Tyr405Ter)
n.1978C>G
17g.63496894C>TCA8700563ACEc.3600C>T (p.Tyr1200=)
c.1878C>T (p.Tyr626=)
c.1755C>T (p.Tyr585=)
n.610C>T
c.*1355C>T (n.*1355C>T)
c.*1329C>T (n.*1329C>T)
c.287C>T
n.474C>T
c.3051C>T (p.Tyr1017=)
c.1938C>T (p.Tyr646=)
c.3033C>T (p.Tyr1011=)
c.2748C>T (p.Tyr916=)
c.1215C>T (p.Tyr405=)
n.1978C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496895T>ACA400567293ACEc.3601T>A (p.Phe1201Ile)
c.1879T>A (p.Phe627Ile)
c.1756T>A (p.Phe586Ile)
n.611T>A
c.*1356T>A (n.*1356T>A)
c.*1330T>A (n.*1330T>A)
c.288T>A
n.475T>A
c.3052T>A (p.Phe1018Ile)
c.1939T>A (p.Phe647Ile)
c.3034T>A (p.Phe1012Ile)
c.2749T>A (p.Phe917Ile)
c.1216T>A (p.Phe406Ile)
n.1979T>A
17g.63496895T>CCA400567297ACEc.3601T>C (p.Phe1201Leu)
c.1879T>C (p.Phe627Leu)
c.1756T>C (p.Phe586Leu)
n.611T>C
c.*1356T>C (n.*1356T>C)
c.*1330T>C (n.*1330T>C)
c.288T>C
n.475T>C
c.3052T>C (p.Phe1018Leu)
c.1939T>C (p.Phe647Leu)
c.3034T>C (p.Phe1012Leu)
c.2749T>C (p.Phe917Leu)
c.1216T>C (p.Phe406Leu)
n.1979T>C
17g.63496895T>GCA400567283ACEc.3601T>G (p.Phe1201Val)
c.1879T>G (p.Phe627Val)
c.1756T>G (p.Phe586Val)
n.611T>G
c.*1356T>G (n.*1356T>G)
c.*1330T>G (n.*1330T>G)
c.288T>G
n.475T>G
c.3052T>G (p.Phe1018Val)
c.1939T>G (p.Phe647Val)
c.3034T>G (p.Phe1012Val)
c.2749T>G (p.Phe917Val)
c.1216T>G (p.Phe406Val)
n.1979T>G
17g.63496896T>ACA400567302ACEc.3602T>A (p.Phe1201Tyr)
c.1880T>A (p.Phe627Tyr)
c.1757T>A (p.Phe586Tyr)
n.612T>A
c.*1357T>A (n.*1357T>A)
c.*1331T>A (n.*1331T>A)
c.289T>A
n.476T>A
c.3053T>A (p.Phe1018Tyr)
c.1940T>A (p.Phe647Tyr)
c.3035T>A (p.Phe1012Tyr)
c.2750T>A (p.Phe917Tyr)
c.1217T>A (p.Phe406Tyr)
n.1980T>A
17g.63496896T>CCA400567304ACEc.3602T>C (p.Phe1201Ser)
c.1880T>C (p.Phe627Ser)
c.1757T>C (p.Phe586Ser)
n.612T>C
c.*1357T>C (n.*1357T>C)
c.*1331T>C (n.*1331T>C)
c.289T>C
n.476T>C
c.3053T>C (p.Phe1018Ser)
c.1940T>C (p.Phe647Ser)
c.3035T>C (p.Phe1012Ser)
c.2750T>C (p.Phe917Ser)
c.1217T>C (p.Phe406Ser)
n.1980T>C
dbSNP
17g.63496896T>GCA400567307ACEc.3602T>G (p.Phe1201Cys)
c.1880T>G (p.Phe627Cys)
c.1757T>G (p.Phe586Cys)
n.612T>G
c.*1357T>G (n.*1357T>G)
c.*1331T>G (n.*1331T>G)
c.289T>G
n.476T>G
c.3053T>G (p.Phe1018Cys)
c.1940T>G (p.Phe647Cys)
c.3035T>G (p.Phe1012Cys)
c.2750T>G (p.Phe917Cys)
c.1217T>G (p.Phe406Cys)
n.1980T>G
17g.63496897C>ACA8700564ACEc.3603C>A (p.Phe1201Leu)
c.1881C>A (p.Phe627Leu)
c.1758C>A (p.Phe586Leu)
n.613C>A
c.*1358C>A (n.*1358C>A)
c.*1332C>A (n.*1332C>A)
c.290C>A
n.477C>A
c.3054C>A (p.Phe1018Leu)
c.1941C>A (p.Phe647Leu)
c.3036C>A (p.Phe1012Leu)
c.2751C>A (p.Phe917Leu)
c.1218C>A (p.Phe406Leu)
n.1981C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496897C=CA2269949795ACEc.3603C= (p.Phe1201=)
c.1881C= (p.Phe627=)
c.1758C= (p.Phe586=)
n.613C=
c.*1358C= (n.*1358C=)
c.*1332C= (n.*1332C=)
c.290C=
n.477C=
c.3054C= (p.Phe1018=)
c.1941C= (p.Phe647=)
c.3036C= (p.Phe1012=)
c.2751C= (p.Phe917=)
c.1218C= (p.Phe406=)
n.1981C=
17g.63496897C>GCA400567312ACEc.3603C>G (p.Phe1201Leu)
c.1881C>G (p.Phe627Leu)
c.1758C>G (p.Phe586Leu)
n.613C>G
c.*1358C>G (n.*1358C>G)
c.*1332C>G (n.*1332C>G)
c.290C>G
n.477C>G
c.3054C>G (p.Phe1018Leu)
c.1941C>G (p.Phe647Leu)
c.3036C>G (p.Phe1012Leu)
c.2751C>G (p.Phe917Leu)
c.1218C>G (p.Phe406Leu)
n.1981C>G
17g.63496897C>TCA501342387ACEc.3603C>T (p.Phe1201=)
c.1881C>T (p.Phe627=)
c.1758C>T (p.Phe586=)
n.613C>T
c.*1358C>T (n.*1358C>T)
c.*1332C>T (n.*1332C>T)
c.290C>T
n.477C>T
c.3054C>T (p.Phe1018=)
c.1941C>T (p.Phe647=)
c.3036C>T (p.Phe1012=)
c.2751C>T (p.Phe917=)
c.1218C>T (p.Phe406=)
n.1981C>T
gnomAD v4
17g.63496898A>CCA400567317ACEc.3604A>C (p.Lys1202Gln)
c.1882A>C (p.Lys628Gln)
c.1759A>C (p.Lys587Gln)
n.614A>C
c.*1359A>C (n.*1359A>C)
c.*1333A>C (n.*1333A>C)
c.291A>C
n.478A>C
c.3055A>C (p.Lys1019Gln)
c.1942A>C (p.Lys648Gln)
c.3037A>C (p.Lys1013Gln)
c.2752A>C (p.Lys918Gln)
c.1219A>C (p.Lys407Gln)
n.1982A>C
17g.63496898A>GCA400567320ACEc.3604A>G (p.Lys1202Glu)
c.1882A>G (p.Lys628Glu)
c.1759A>G (p.Lys587Glu)
n.614A>G
c.*1359A>G (n.*1359A>G)
c.*1333A>G (n.*1333A>G)
c.291A>G
n.478A>G
c.3055A>G (p.Lys1019Glu)
c.1942A>G (p.Lys648Glu)
c.3037A>G (p.Lys1013Glu)
c.2752A>G (p.Lys918Glu)
c.1219A>G (p.Lys407Glu)
n.1982A>G
17g.63496898A>TCA400567322ACEc.3604A>T (p.Lys1202Ter)
c.1882A>T (p.Lys628Ter)
c.1759A>T (p.Lys587Ter)
n.614A>T
c.*1359A>T (n.*1359A>T)
c.*1333A>T (n.*1333A>T)
c.291A>T
n.478A>T
c.3055A>T (p.Lys1019Ter)
c.1942A>T (p.Lys648Ter)
c.3037A>T (p.Lys1013Ter)
c.2752A>T (p.Lys918Ter)
c.1219A>T (p.Lys407Ter)
n.1982A>T
17g.63496899A>CCA400567325ACEc.3605A>C (p.Lys1202Thr)
c.1883A>C (p.Lys628Thr)
c.1760A>C (p.Lys587Thr)
n.615A>C
c.*1360A>C (n.*1360A>C)
c.*1334A>C (n.*1334A>C)
c.292A>C
n.479A>C
c.3056A>C (p.Lys1019Thr)
c.1943A>C (p.Lys648Thr)
c.3038A>C (p.Lys1013Thr)
c.2753A>C (p.Lys918Thr)
c.1220A>C (p.Lys407Thr)
n.1983A>C
17g.63496899A>GCA400567329ACEc.3605A>G (p.Lys1202Arg)
c.1883A>G (p.Lys628Arg)
c.1760A>G (p.Lys587Arg)
n.615A>G
c.*1360A>G (n.*1360A>G)
c.*1334A>G (n.*1334A>G)
c.292A>G
n.479A>G
c.3056A>G (p.Lys1019Arg)
c.1943A>G (p.Lys648Arg)
c.3038A>G (p.Lys1013Arg)
c.2753A>G (p.Lys918Arg)
c.1220A>G (p.Lys407Arg)
n.1983A>G
17g.63496899A>TCA400567332ACEc.3605A>T (p.Lys1202Met)
c.1883A>T (p.Lys628Met)
c.1760A>T (p.Lys587Met)
n.615A>T
c.*1360A>T (n.*1360A>T)
c.*1334A>T (n.*1334A>T)
c.292A>T
n.479A>T
c.3056A>T (p.Lys1019Met)
c.1943A>T (p.Lys648Met)
c.3038A>T (p.Lys1013Met)
c.2753A>T (p.Lys918Met)
c.1220A>T (p.Lys407Met)
n.1983A>T
17g.63496900G>ACA501342392ACEc.3606G>A (p.Lys1202=)
c.1884G>A (p.Lys628=)
c.1761G>A (p.Lys587=)
n.616G>A
c.*1361G>A (n.*1361G>A)
c.*1335G>A (n.*1335G>A)
c.293G>A
n.480G>A
c.3057G>A (p.Lys1019=)
c.1944G>A (p.Lys648=)
c.3039G>A (p.Lys1013=)
c.2754G>A (p.Lys918=)
c.1221G>A (p.Lys407=)
n.1984G>A
gnomAD v4
17g.63496900G>CCA400567336ACEc.3606G>C (p.Lys1202Asn)
c.1884G>C (p.Lys628Asn)
c.1761G>C (p.Lys587Asn)
n.616G>C
c.*1361G>C (n.*1361G>C)
c.*1335G>C (n.*1335G>C)
c.293G>C
n.480G>C
c.3057G>C (p.Lys1019Asn)
c.1944G>C (p.Lys648Asn)
c.3039G>C (p.Lys1013Asn)
c.2754G>C (p.Lys918Asn)
c.1221G>C (p.Lys407Asn)
n.1984G>C
17g.63496900G>TCA400567343ACEc.3606G>T (p.Lys1202Asn)
c.1884G>T (p.Lys628Asn)
c.1761G>T (p.Lys587Asn)
n.616G>T
c.*1361G>T (n.*1361G>T)
c.*1335G>T (n.*1335G>T)
c.293G>T
n.480G>T
c.3057G>T (p.Lys1019Asn)
c.1944G>T (p.Lys648Asn)
c.3039G>T (p.Lys1013Asn)
c.2754G>T (p.Lys918Asn)
c.1221G>T (p.Lys407Asn)
n.1984G>T
17g.63496901C>ACA400567355ACEc.3607C>A (p.Pro1203Thr)
c.1885C>A (p.Pro629Thr)
c.1762C>A (p.Pro588Thr)
n.617C>A
c.*1362C>A (n.*1362C>A)
c.*1336C>A (n.*1336C>A)
c.294C>A
n.481C>A
c.3058C>A (p.Pro1020Thr)
c.1945C>A (p.Pro649Thr)
c.3040C>A (p.Pro1014Thr)
c.2755C>A (p.Pro919Thr)
c.1222C>A (p.Pro408Thr)
n.1985C>A
17g.63496901C>GCA400567352ACEc.3607C>G (p.Pro1203Ala)
c.1885C>G (p.Pro629Ala)
c.1762C>G (p.Pro588Ala)
n.617C>G
c.*1362C>G (n.*1362C>G)
c.*1336C>G (n.*1336C>G)
c.294C>G
n.481C>G
c.3058C>G (p.Pro1020Ala)
c.1945C>G (p.Pro649Ala)
c.3040C>G (p.Pro1014Ala)
c.2755C>G (p.Pro919Ala)
c.1222C>G (p.Pro408Ala)
n.1985C>G
17g.63496901C>TCA400567348ACEc.3607C>T (p.Pro1203Ser)
c.1885C>T (p.Pro629Ser)
c.1762C>T (p.Pro588Ser)
n.617C>T
c.*1362C>T (n.*1362C>T)
c.*1336C>T (n.*1336C>T)
c.294C>T
n.481C>T
c.3058C>T (p.Pro1020Ser)
c.1945C>T (p.Pro649Ser)
c.3040C>T (p.Pro1014Ser)
c.2755C>T (p.Pro919Ser)
c.1222C>T (p.Pro408Ser)
n.1985C>T
gnomAD v4
17g.63496902C>ACA400567365ACEc.3608C>A (p.Pro1203Gln)
c.1886C>A (p.Pro629Gln)
c.1763C>A (p.Pro588Gln)
n.618C>A
c.*1363C>A (n.*1363C>A)
c.*1337C>A (n.*1337C>A)
c.295C>A
n.482C>A
c.3059C>A (p.Pro1020Gln)
c.1946C>A (p.Pro649Gln)
c.3041C>A (p.Pro1014Gln)
c.2756C>A (p.Pro919Gln)
c.1223C>A (p.Pro408Gln)
n.1986C>A
17g.63496902C=CA2269949796ACEc.3608C= (p.Pro1203=)
c.1886C= (p.Pro629=)
c.1763C= (p.Pro588=)
n.618C=
c.*1363C= (n.*1363C=)
c.*1337C= (n.*1337C=)
c.295C=
n.482C=
c.3059C= (p.Pro1020=)
c.1946C= (p.Pro649=)
c.3041C= (p.Pro1014=)
c.2756C= (p.Pro919=)
c.1223C= (p.Pro408=)
n.1986C=
17g.63496902C>GCA400567370ACEc.3608C>G (p.Pro1203Arg)
c.1886C>G (p.Pro629Arg)
c.1763C>G (p.Pro588Arg)
n.618C>G
c.*1363C>G (n.*1363C>G)
c.*1337C>G (n.*1337C>G)
c.295C>G
n.482C>G
c.3059C>G (p.Pro1020Arg)
c.1946C>G (p.Pro649Arg)
c.3041C>G (p.Pro1014Arg)
c.2756C>G (p.Pro919Arg)
c.1223C>G (p.Pro408Arg)
n.1986C>G
gnomAD v4
17g.63496902C>TCA8700565ACEc.3608C>T (p.Pro1203Leu)
c.1886C>T (p.Pro629Leu)
c.1763C>T (p.Pro588Leu)
n.618C>T
c.*1363C>T (n.*1363C>T)
c.*1337C>T (n.*1337C>T)
c.295C>T
n.482C>T
c.3059C>T (p.Pro1020Leu)
c.1946C>T (p.Pro649Leu)
c.3041C>T (p.Pro1014Leu)
c.2756C>T (p.Pro919Leu)
c.1223C>T (p.Pro408Leu)
n.1986C>T
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63496903G>ACA8700566ACEc.3609G>A (p.Pro1203=)
c.1887G>A (p.Pro629=)
c.1764G>A (p.Pro588=)
n.619G>A
c.*1364G>A (n.*1364G>A)
c.*1338G>A (n.*1338G>A)
c.296G>A
n.483G>A
c.3060G>A (p.Pro1020=)
c.1947G>A (p.Pro649=)
c.3042G>A (p.Pro1014=)
c.2757G>A (p.Pro919=)
c.1224G>A (p.Pro408=)
n.1987G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496903G>CCA501342398ACEc.3609G>C (p.Pro1203=)
c.1887G>C (p.Pro629=)
c.1764G>C (p.Pro588=)
n.619G>C
c.*1364G>C (n.*1364G>C)
c.*1338G>C (n.*1338G>C)
c.296G>C
n.483G>C
c.3060G>C (p.Pro1020=)
c.1947G>C (p.Pro649=)
c.3042G>C (p.Pro1014=)
c.2757G>C (p.Pro919=)
c.1224G>C (p.Pro408=)
n.1987G>C
17g.63496903G=CA2269949797ACEc.3609G= (p.Pro1203=)
c.1887G= (p.Pro629=)
c.1764G= (p.Pro588=)
n.619G=
c.*1364G= (n.*1364G=)
c.*1338G= (n.*1338G=)
c.296G=
n.483G=
c.3060G= (p.Pro1020=)
c.1947G= (p.Pro649=)
c.3042G= (p.Pro1014=)
c.2757G= (p.Pro919=)
c.1224G= (p.Pro408=)
n.1987G=
17g.63496903G>TCA501342396ACEc.3609G>T (p.Pro1203=)
c.1887G>T (p.Pro629=)
c.1764G>T (p.Pro588=)
n.619G>T
c.*1364G>T (n.*1364G>T)
c.*1338G>T (n.*1338G>T)
c.296G>T
n.483G>T
c.3060G>T (p.Pro1020=)
c.1947G>T (p.Pro649=)
c.3042G>T (p.Pro1014=)
c.2757G>T (p.Pro919=)
c.1224G>T (p.Pro408=)
n.1987G>T
17g.63496904C>ACA400567377ACEc.3610C>A (p.Leu1204Met)
c.1888C>A (p.Leu630Met)
c.1765C>A (p.Leu589Met)
n.620C>A
c.*1365C>A (n.*1365C>A)
c.*1339C>A (n.*1339C>A)
c.297C>A
n.484C>A
c.3061C>A (p.Leu1021Met)
c.1948C>A (p.Leu650Met)
c.3043C>A (p.Leu1015Met)
c.2758C>A (p.Leu920Met)
c.1225C>A (p.Leu409Met)
n.1988C>A
17g.63496904C>GCA400567380ACEc.3610C>G (p.Leu1204Val)
c.1888C>G (p.Leu630Val)
c.1765C>G (p.Leu589Val)
n.620C>G
c.*1365C>G (n.*1365C>G)
c.*1339C>G (n.*1339C>G)
c.297C>G
n.484C>G
c.3061C>G (p.Leu1021Val)
c.1948C>G (p.Leu650Val)
c.3043C>G (p.Leu1015Val)
c.2758C>G (p.Leu920Val)
c.1225C>G (p.Leu409Val)
n.1988C>G
17g.63496904C>TCA501342399ACEc.3610C>T (p.Leu1204=)
c.1888C>T (p.Leu630=)
c.1765C>T (p.Leu589=)
n.620C>T
c.*1365C>T (n.*1365C>T)
c.*1339C>T (n.*1339C>T)
c.297C>T
n.484C>T
c.3061C>T (p.Leu1021=)
c.1948C>T (p.Leu650=)
c.3043C>T (p.Leu1015=)
c.2758C>T (p.Leu920=)
c.1225C>T (p.Leu409=)
n.1988C>T
17g.63496905T>ACA400567385ACEc.3611T>A (p.Leu1204Gln)
c.1889T>A (p.Leu630Gln)
c.1766T>A (p.Leu589Gln)
n.621T>A
c.*1366T>A (n.*1366T>A)
c.*1340T>A (n.*1340T>A)
c.298T>A
n.485T>A
c.3062T>A (p.Leu1021Gln)
c.1949T>A (p.Leu650Gln)
c.3044T>A (p.Leu1015Gln)
c.2759T>A (p.Leu920Gln)
c.1226T>A (p.Leu409Gln)
n.1989T>A
17g.63496905T>CCA400567389ACEc.3611T>C (p.Leu1204Pro)
c.1889T>C (p.Leu630Pro)
c.1766T>C (p.Leu589Pro)
n.621T>C
c.*1366T>C (n.*1366T>C)
c.*1340T>C (n.*1340T>C)
c.298T>C
n.485T>C
c.3062T>C (p.Leu1021Pro)
c.1949T>C (p.Leu650Pro)
c.3044T>C (p.Leu1015Pro)
c.2759T>C (p.Leu920Pro)
c.1226T>C (p.Leu409Pro)
n.1989T>C
17g.63496905T>GCA400567392ACEc.3611T>G (p.Leu1204Arg)
c.1889T>G (p.Leu630Arg)
c.1766T>G (p.Leu589Arg)
n.621T>G
c.*1366T>G (n.*1366T>G)
c.*1340T>G (n.*1340T>G)
c.298T>G
n.485T>G
c.3062T>G (p.Leu1021Arg)
c.1949T>G (p.Leu650Arg)
c.3044T>G (p.Leu1015Arg)
c.2759T>G (p.Leu920Arg)
c.1226T>G (p.Leu409Arg)
n.1989T>G
17g.63496906G>ACA501342403ACEc.3612G>A (p.Leu1204=)
c.1890G>A (p.Leu630=)
c.1767G>A (p.Leu589=)
n.622G>A
c.*1367G>A (n.*1367G>A)
c.*1341G>A (n.*1341G>A)
c.299G>A
n.486G>A
c.3063G>A (p.Leu1021=)
c.1950G>A (p.Leu650=)
c.3045G>A (p.Leu1015=)
c.2760G>A (p.Leu920=)
c.1227G>A (p.Leu409=)
n.1990G>A
17g.63496906G>CCA501342405ACEc.3612G>C (p.Leu1204=)
c.1890G>C (p.Leu630=)
c.1767G>C (p.Leu589=)
n.622G>C
c.*1367G>C (n.*1367G>C)
c.*1341G>C (n.*1341G>C)
c.299G>C
n.486G>C
c.3063G>C (p.Leu1021=)
c.1950G>C (p.Leu650=)
c.3045G>C (p.Leu1015=)
c.2760G>C (p.Leu920=)
c.1227G>C (p.Leu409=)
n.1990G>C
gnomAD v4
17g.63496906G>TCA501342404ACEc.3612G>T (p.Leu1204=)
c.1890G>T (p.Leu630=)
c.1767G>T (p.Leu589=)
n.622G>T
c.*1367G>T (n.*1367G>T)
c.*1341G>T (n.*1341G>T)
c.299G>T
n.486G>T
c.3063G>T (p.Leu1021=)
c.1950G>T (p.Leu650=)
c.3045G>T (p.Leu1015=)
c.2760G>T (p.Leu920=)
c.1227G>T (p.Leu409=)
n.1990G>T
17g.63496907C>ACA400567396ACEc.3613C>A (p.Leu1205Met)
c.1891C>A (p.Leu631Met)
c.1768C>A (p.Leu590Met)
n.623C>A
c.*1368C>A (n.*1368C>A)
c.*1342C>A (n.*1342C>A)
c.300C>A
n.487C>A
c.3064C>A (p.Leu1022Met)
c.1951C>A (p.Leu651Met)
c.3046C>A (p.Leu1016Met)
c.2761C>A (p.Leu921Met)
c.1228C>A (p.Leu410Met)
n.1991C>A
17g.63496907C=CA2269949798ACEc.3613C= (p.Leu1205=)
c.1891C= (p.Leu631=)
c.1768C= (p.Leu590=)
n.623C=
c.*1368C= (n.*1368C=)
c.*1342C= (n.*1342C=)
c.300C=
n.487C=
c.3064C= (p.Leu1022=)
c.1951C= (p.Leu651=)
c.3046C= (p.Leu1016=)
c.2761C= (p.Leu921=)
c.1228C= (p.Leu410=)
n.1991C=
17g.63496907C>GCA400567398ACEc.3613C>G (p.Leu1205Val)
c.1891C>G (p.Leu631Val)
c.1768C>G (p.Leu590Val)
n.623C>G
c.*1368C>G (n.*1368C>G)
c.*1342C>G (n.*1342C>G)
c.300C>G
n.487C>G
c.3064C>G (p.Leu1022Val)
c.1951C>G (p.Leu651Val)
c.3046C>G (p.Leu1016Val)
c.2761C>G (p.Leu921Val)
c.1228C>G (p.Leu410Val)
n.1991C>G
17g.63496907C>TCA501342406ACEc.3613C>T (p.Leu1205=)
c.1891C>T (p.Leu631=)
c.1768C>T (p.Leu590=)
n.623C>T
c.*1368C>T (n.*1368C>T)
c.*1342C>T (n.*1342C>T)
c.300C>T
n.487C>T
c.3064C>T (p.Leu1022=)
c.1951C>T (p.Leu651=)
c.3046C>T (p.Leu1016=)
c.2761C>T (p.Leu921=)
c.1228C>T (p.Leu410=)
n.1991C>T
dbSNP
17g.63496908T>ACA400567402ACEc.3614T>A (p.Leu1205Gln)
c.1892T>A (p.Leu631Gln)
c.1769T>A (p.Leu590Gln)
n.624T>A
c.*1369T>A (n.*1369T>A)
c.*1343T>A (n.*1343T>A)
c.301T>A
n.488T>A
c.3065T>A (p.Leu1022Gln)
c.1952T>A (p.Leu651Gln)
c.3047T>A (p.Leu1016Gln)
c.2762T>A (p.Leu921Gln)
c.1229T>A (p.Leu410Gln)
n.1992T>A
17g.63496908T>CCA400567404ACEc.3614T>C (p.Leu1205Pro)
c.1892T>C (p.Leu631Pro)
c.1769T>C (p.Leu590Pro)
n.624T>C
c.*1369T>C (n.*1369T>C)
c.*1343T>C (n.*1343T>C)
c.301T>C
n.488T>C
c.3065T>C (p.Leu1022Pro)
c.1952T>C (p.Leu651Pro)
c.3047T>C (p.Leu1016Pro)
c.2762T>C (p.Leu921Pro)
c.1229T>C (p.Leu410Pro)
n.1992T>C
17g.63496908T>GCA400567407ACEc.3614T>G (p.Leu1205Arg)
c.1892T>G (p.Leu631Arg)
c.1769T>G (p.Leu590Arg)
n.624T>G
c.*1369T>G (n.*1369T>G)
c.*1343T>G (n.*1343T>G)
c.301T>G
n.488T>G
c.3065T>G (p.Leu1022Arg)
c.1952T>G (p.Leu651Arg)
c.3047T>G (p.Leu1016Arg)
c.2762T>G (p.Leu921Arg)
c.1229T>G (p.Leu410Arg)
n.1992T>G
17g.63496909G>ACA501342410ACEc.3615G>A (p.Leu1205=)
c.1893G>A (p.Leu631=)
c.1770G>A (p.Leu590=)
n.625G>A
c.*1370G>A (n.*1370G>A)
c.*1344G>A (n.*1344G>A)
c.302G>A
n.489G>A
c.3066G>A (p.Leu1022=)
c.1953G>A (p.Leu651=)
c.3048G>A (p.Leu1016=)
c.2763G>A (p.Leu921=)
c.1230G>A (p.Leu410=)
n.1993G>A
17g.63496909G>CCA501342411ACEc.3615G>C (p.Leu1205=)
c.1893G>C (p.Leu631=)
c.1770G>C (p.Leu590=)
n.625G>C
c.*1370G>C (n.*1370G>C)
c.*1344G>C (n.*1344G>C)
c.302G>C
n.489G>C
c.3066G>C (p.Leu1022=)
c.1953G>C (p.Leu651=)
c.3048G>C (p.Leu1016=)
c.2763G>C (p.Leu921=)
c.1230G>C (p.Leu410=)
n.1993G>C
17g.63496909G>TCA501342412ACEc.3615G>T (p.Leu1205=)
c.1893G>T (p.Leu631=)
c.1770G>T (p.Leu590=)
n.625G>T
c.*1370G>T (n.*1370G>T)
c.*1344G>T (n.*1344G>T)
c.302G>T
n.489G>T
c.3066G>T (p.Leu1022=)
c.1953G>T (p.Leu651=)
c.3048G>T (p.Leu1016=)
c.2763G>T (p.Leu921=)
c.1230G>T (p.Leu410=)
n.1993G>T
17g.63496910G>ACA400567411ACEc.3616G>A (p.Asp1206Asn)
c.1894G>A (p.Asp632Asn)
c.1771G>A (p.Asp591Asn)
n.626G>A
c.*1371G>A (n.*1371G>A)
c.*1345G>A (n.*1345G>A)
c.303G>A
n.490G>A
c.3067G>A (p.Asp1023Asn)
c.1954G>A (p.Asp652Asn)
c.3049G>A (p.Asp1017Asn)
c.2764G>A (p.Asp922Asn)
c.1231G>A (p.Asp411Asn)
n.1994G>A
17g.63496910G>CCA400567412ACEc.3616G>C (p.Asp1206His)
c.1894G>C (p.Asp632His)
c.1771G>C (p.Asp591His)
n.626G>C
c.*1371G>C (n.*1371G>C)
c.*1345G>C (n.*1345G>C)
c.303G>C
n.490G>C
c.3067G>C (p.Asp1023His)
c.1954G>C (p.Asp652His)
c.3049G>C (p.Asp1017His)
c.2764G>C (p.Asp922His)
c.1231G>C (p.Asp411His)
n.1994G>C
17g.63496910G=CA2269949799ACEc.3616G= (p.Asp1206=)
c.1894G= (p.Asp632=)
c.1771G= (p.Asp591=)
n.626G=
c.*1371G= (n.*1371G=)
c.*1345G= (n.*1345G=)
c.303G=
n.490G=
c.3067G= (p.Asp1023=)
c.1954G= (p.Asp652=)
c.3049G= (p.Asp1017=)
c.2764G= (p.Asp922=)
c.1231G= (p.Asp411=)
n.1994G=
17g.63496910G>TCA400567410ACEc.3616G>T (p.Asp1206Tyr)
c.1894G>T (p.Asp632Tyr)
c.1771G>T (p.Asp591Tyr)
n.626G>T
c.*1371G>T (n.*1371G>T)
c.*1345G>T (n.*1345G>T)
c.303G>T
n.490G>T
c.3067G>T (p.Asp1023Tyr)
c.1954G>T (p.Asp652Tyr)
c.3049G>T (p.Asp1017Tyr)
c.2764G>T (p.Asp922Tyr)
c.1231G>T (p.Asp411Tyr)
n.1994G>T
dbSNP
17g.63496911A=CA2269949800ACEc.3617A= (p.Asp1206=)
c.1895A= (p.Asp632=)
c.1772A= (p.Asp591=)
n.627A=
c.*1372A= (n.*1372A=)
c.*1346A= (n.*1346A=)
c.304A=
n.491A=
c.3068A= (p.Asp1023=)
c.1955A= (p.Asp652=)
c.3050A= (p.Asp1017=)
c.2765A= (p.Asp922=)
c.1232A= (p.Asp411=)
n.1995A=
17g.63496911A>CCA400567415ACEc.3617A>C (p.Asp1206Ala)
c.1895A>C (p.Asp632Ala)
c.1772A>C (p.Asp591Ala)
n.627A>C
c.*1372A>C (n.*1372A>C)
c.*1346A>C (n.*1346A>C)
c.304A>C
n.491A>C
c.3068A>C (p.Asp1023Ala)
c.1955A>C (p.Asp652Ala)
c.3050A>C (p.Asp1017Ala)
c.2765A>C (p.Asp922Ala)
c.1232A>C (p.Asp411Ala)
n.1995A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63496911A>GCA400567417ACEc.3617A>G (p.Asp1206Gly)
c.1895A>G (p.Asp632Gly)
c.1772A>G (p.Asp591Gly)
n.627A>G
c.*1372A>G (n.*1372A>G)
c.*1346A>G (n.*1346A>G)
c.304A>G
n.491A>G
c.3068A>G (p.Asp1023Gly)
c.1955A>G (p.Asp652Gly)
c.3050A>G (p.Asp1017Gly)
c.2765A>G (p.Asp922Gly)
c.1232A>G (p.Asp411Gly)
n.1995A>G
17g.63496911A>TCA400567420ACEc.3617A>T (p.Asp1206Val)
c.1895A>T (p.Asp632Val)
c.1772A>T (p.Asp591Val)
n.627A>T
c.*1372A>T (n.*1372A>T)
c.*1346A>T (n.*1346A>T)
c.304A>T
n.491A>T
c.3068A>T (p.Asp1023Val)
c.1955A>T (p.Asp652Val)
c.3050A>T (p.Asp1017Val)
c.2765A>T (p.Asp922Val)
c.1232A>T (p.Asp411Val)
n.1995A>T
17g.63496912C>ACA400567424ACEc.3618C>A (p.Asp1206Glu)
c.1896C>A (p.Asp632Glu)
c.1773C>A (p.Asp591Glu)
n.628C>A
c.*1373C>A (n.*1373C>A)
c.*1347C>A (n.*1347C>A)
c.305C>A
n.492C>A
c.3069C>A (p.Asp1023Glu)
c.1956C>A (p.Asp652Glu)
c.3051C>A (p.Asp1017Glu)
c.2766C>A (p.Asp922Glu)
c.1233C>A (p.Asp411Glu)
n.1996C>A
17g.63496912C=CA2269949801ACEc.3618C= (p.Asp1206=)
c.1896C= (p.Asp632=)
c.1773C= (p.Asp591=)
n.628C=
c.*1373C= (n.*1373C=)
c.*1347C= (n.*1347C=)
c.305C=
n.492C=
c.3069C= (p.Asp1023=)
c.1956C= (p.Asp652=)
c.3051C= (p.Asp1017=)
c.2766C= (p.Asp922=)
c.1233C= (p.Asp411=)
n.1996C=
17g.63496912C>GCA400567427ACEc.3618C>G (p.Asp1206Glu)
c.1896C>G (p.Asp632Glu)
c.1773C>G (p.Asp591Glu)
n.628C>G
c.*1373C>G (n.*1373C>G)
c.*1347C>G (n.*1347C>G)
c.305C>G
n.492C>G
c.3069C>G (p.Asp1023Glu)
c.1956C>G (p.Asp652Glu)
c.3051C>G (p.Asp1017Glu)
c.2766C>G (p.Asp922Glu)
c.1233C>G (p.Asp411Glu)
n.1996C>G
COSMIC COSMIC COSMIC
17g.63496912C>TCA501342414ACEc.3618C>T (p.Asp1206=)
c.1896C>T (p.Asp632=)
c.1773C>T (p.Asp591=)
n.628C>T
c.*1373C>T (n.*1373C>T)
c.*1347C>T (n.*1347C>T)
c.305C>T
n.492C>T
c.3069C>T (p.Asp1023=)
c.1956C>T (p.Asp652=)
c.3051C>T (p.Asp1017=)
c.2766C>T (p.Asp922=)
c.1233C>T (p.Asp411=)
n.1996C>T
dbSNP gnomAD v2 gnomAD v4
17g.63496913T>ACA400567431ACEc.3619T>A (p.Trp1207Arg)
c.1897T>A (p.Trp633Arg)
c.1774T>A (p.Trp592Arg)
n.629T>A
c.*1374T>A (n.*1374T>A)
c.*1348T>A (n.*1348T>A)
c.306T>A
n.493T>A
c.3070T>A (p.Trp1024Arg)
c.1957T>A (p.Trp653Arg)
c.3052T>A (p.Trp1018Arg)
c.2767T>A (p.Trp923Arg)
c.1234T>A (p.Trp412Arg)
n.1997T>A
17g.63496913T>CCA400567434ACEc.3619T>C (p.Trp1207Arg)
c.1897T>C (p.Trp633Arg)
c.1774T>C (p.Trp592Arg)
n.629T>C
c.*1374T>C (n.*1374T>C)
c.*1348T>C (n.*1348T>C)
c.306T>C
n.493T>C
c.3070T>C (p.Trp1024Arg)
c.1957T>C (p.Trp653Arg)
c.3052T>C (p.Trp1018Arg)
c.2767T>C (p.Trp923Arg)
c.1234T>C (p.Trp412Arg)
n.1997T>C
17g.63496913T>GCA400567438ACEc.3619T>G (p.Trp1207Gly)
c.1897T>G (p.Trp633Gly)
c.1774T>G (p.Trp592Gly)
n.629T>G
c.*1374T>G (n.*1374T>G)
c.*1348T>G (n.*1348T>G)
c.306T>G
n.493T>G
c.3070T>G (p.Trp1024Gly)
c.1957T>G (p.Trp653Gly)
c.3052T>G (p.Trp1018Gly)
c.2767T>G (p.Trp923Gly)
c.1234T>G (p.Trp412Gly)
n.1997T>G
17g.63496914G>ACA400567441ACEc.3620G>A (p.Trp1207Ter)
c.1898G>A (p.Trp633Ter)
c.1775G>A (p.Trp592Ter)
n.630G>A
c.*1375G>A (n.*1375G>A)
c.*1349G>A (n.*1349G>A)
c.307G>A
n.494G>A
c.3071G>A (p.Trp1024Ter)
c.1958G>A (p.Trp653Ter)
c.3053G>A (p.Trp1018Ter)
c.2768G>A (p.Trp923Ter)
c.1235G>A (p.Trp412Ter)
n.1998G>A
17g.63496914G>CCA400567444ACEc.3620G>C (p.Trp1207Ser)
c.1898G>C (p.Trp633Ser)
c.1775G>C (p.Trp592Ser)
n.630G>C
c.*1375G>C (n.*1375G>C)
c.*1349G>C (n.*1349G>C)
c.307G>C
n.494G>C
c.3071G>C (p.Trp1024Ser)
c.1958G>C (p.Trp653Ser)
c.3053G>C (p.Trp1018Ser)
c.2768G>C (p.Trp923Ser)
c.1235G>C (p.Trp412Ser)
n.1998G>C
17g.63496914G>TCA400567445ACEc.3620G>T (p.Trp1207Leu)
c.1898G>T (p.Trp633Leu)
c.1775G>T (p.Trp592Leu)
n.630G>T
c.*1375G>T (n.*1375G>T)
c.*1349G>T (n.*1349G>T)
c.307G>T
n.494G>T
c.3071G>T (p.Trp1024Leu)
c.1958G>T (p.Trp653Leu)
c.3053G>T (p.Trp1018Leu)
c.2768G>T (p.Trp923Leu)
c.1235G>T (p.Trp412Leu)
n.1998G>T
17g.63496915G>ACA400567458ACEc.3621G>A (p.Trp1207Ter)
c.1899G>A (p.Trp633Ter)
c.1776G>A (p.Trp592Ter)
n.631G>A
c.*1376G>A (n.*1376G>A)
c.*1350G>A (n.*1350G>A)
c.308G>A
n.495G>A
c.3072G>A (p.Trp1024Ter)
c.1959G>A (p.Trp653Ter)
c.3054G>A (p.Trp1018Ter)
c.2769G>A (p.Trp923Ter)
c.1236G>A (p.Trp412Ter)
n.1999G>A
17g.63496915G>CCA400567448ACEc.3621G>C (p.Trp1207Cys)
c.1899G>C (p.Trp633Cys)
c.1776G>C (p.Trp592Cys)
n.631G>C
c.*1376G>C (n.*1376G>C)
c.*1350G>C (n.*1350G>C)
c.308G>C
n.495G>C
c.3072G>C (p.Trp1024Cys)
c.1959G>C (p.Trp653Cys)
c.3054G>C (p.Trp1018Cys)
c.2769G>C (p.Trp923Cys)
c.1236G>C (p.Trp412Cys)
n.1999G>C
dbSNP
17g.63496915G=CA2269949802ACEc.3621G= (p.Trp1207=)
c.1899G= (p.Trp633=)
c.1776G= (p.Trp592=)
n.631G=
c.*1376G= (n.*1376G=)
c.*1350G= (n.*1350G=)
c.308G=
n.495G=
c.3072G= (p.Trp1024=)
c.1959G= (p.Trp653=)
c.3054G= (p.Trp1018=)
c.2769G= (p.Trp923=)
c.1236G= (p.Trp412=)
n.1999G=
17g.63496915G>TCA400567446ACEc.3621G>T (p.Trp1207Cys)
c.1899G>T (p.Trp633Cys)
c.1776G>T (p.Trp592Cys)
n.631G>T
c.*1376G>T (n.*1376G>T)
c.*1350G>T (n.*1350G>T)
c.308G>T
n.495G>T
c.3072G>T (p.Trp1024Cys)
c.1959G>T (p.Trp653Cys)
c.3054G>T (p.Trp1018Cys)
c.2769G>T (p.Trp923Cys)
c.1236G>T (p.Trp412Cys)
n.1999G>T
17g.63496916C>ACA400567461ACEc.3622C>A (p.Leu1208Ile)
c.1900C>A (p.Leu634Ile)
c.1777C>A (p.Leu593Ile)
n.632C>A
c.*1377C>A (n.*1377C>A)
c.*1351C>A (n.*1351C>A)
c.309C>A
n.496C>A
c.3073C>A (p.Leu1025Ile)
c.1960C>A (p.Leu654Ile)
c.3055C>A (p.Leu1019Ile)
c.2770C>A (p.Leu924Ile)
c.1237C>A (p.Leu413Ile)
n.2000C>A
17g.63496916C>GCA400567463ACEc.3622C>G (p.Leu1208Val)
c.1900C>G (p.Leu634Val)
c.1777C>G (p.Leu593Val)
n.632C>G
c.*1377C>G (n.*1377C>G)
c.*1351C>G (n.*1351C>G)
c.309C>G
n.496C>G
c.3073C>G (p.Leu1025Val)
c.1960C>G (p.Leu654Val)
c.3055C>G (p.Leu1019Val)
c.2770C>G (p.Leu924Val)
c.1237C>G (p.Leu413Val)
n.2000C>G
17g.63496916C>TCA400567465ACEc.3622C>T (p.Leu1208Phe)
c.1900C>T (p.Leu634Phe)
c.1777C>T (p.Leu593Phe)
n.632C>T
c.*1377C>T (n.*1377C>T)
c.*1351C>T (n.*1351C>T)
c.309C>T
n.496C>T
c.3073C>T (p.Leu1025Phe)
c.1960C>T (p.Leu654Phe)
c.3055C>T (p.Leu1019Phe)
c.2770C>T (p.Leu924Phe)
c.1237C>T (p.Leu413Phe)
n.2000C>T
gnomAD v4
17g.63496917T>ACA400567467ACEc.3623T>A (p.Leu1208His)
c.1901T>A (p.Leu634His)
c.1778T>A (p.Leu593His)
n.633T>A
c.*1378T>A (n.*1378T>A)
c.*1352T>A (n.*1352T>A)
c.310T>A
n.497T>A
c.3074T>A (p.Leu1025His)
c.1961T>A (p.Leu654His)
c.3056T>A (p.Leu1019His)
c.2771T>A (p.Leu924His)
c.1238T>A (p.Leu413His)
n.2001T>A
17g.63496917T>CCA400567469ACEc.3623T>C (p.Leu1208Pro)
c.1901T>C (p.Leu634Pro)
c.1778T>C (p.Leu593Pro)
n.633T>C
c.*1378T>C (n.*1378T>C)
c.*1352T>C (n.*1352T>C)
c.310T>C
n.497T>C
c.3074T>C (p.Leu1025Pro)
c.1961T>C (p.Leu654Pro)
c.3056T>C (p.Leu1019Pro)
c.2771T>C (p.Leu924Pro)
c.1238T>C (p.Leu413Pro)
n.2001T>C
ClinVar dbSNP
17g.63496917T>GCA400567471ACEc.3623T>G (p.Leu1208Arg)
c.1901T>G (p.Leu634Arg)
c.1778T>G (p.Leu593Arg)
n.633T>G
c.*1378T>G (n.*1378T>G)
c.*1352T>G (n.*1352T>G)
c.310T>G
n.497T>G
c.3074T>G (p.Leu1025Arg)
c.1961T>G (p.Leu654Arg)
c.3056T>G (p.Leu1019Arg)
c.2771T>G (p.Leu924Arg)
c.1238T>G (p.Leu413Arg)
n.2001T>G
17g.63496917T=CA2269949803ACEc.3623T= (p.Leu1208=)
c.1901T= (p.Leu634=)
c.1778T= (p.Leu593=)
n.633T=
c.*1378T= (n.*1378T=)
c.*1352T= (n.*1352T=)
c.310T=
n.497T=
c.3074T= (p.Leu1025=)
c.1961T= (p.Leu654=)
c.3056T= (p.Leu1019=)
c.2771T= (p.Leu924=)
c.1238T= (p.Leu413=)
n.2001T=
17g.63496918C>ACA501342420ACEc.3624C>A (p.Leu1208=)
c.1902C>A (p.Leu634=)
c.1779C>A (p.Leu593=)
n.634C>A
c.*1379C>A (n.*1379C>A)
c.*1353C>A (n.*1353C>A)
c.311C>A
n.498C>A
c.3075C>A (p.Leu1025=)
c.1962C>A (p.Leu654=)
c.3057C>A (p.Leu1019=)
c.2772C>A (p.Leu924=)
c.1239C>A (p.Leu413=)
n.2002C>A
17g.63496918C>GCA501342421ACEc.3624C>G (p.Leu1208=)
c.1902C>G (p.Leu634=)
c.1779C>G (p.Leu593=)
n.634C>G
c.*1379C>G (n.*1379C>G)
c.*1353C>G (n.*1353C>G)
c.311C>G
n.498C>G
c.3075C>G (p.Leu1025=)
c.1962C>G (p.Leu654=)
c.3057C>G (p.Leu1019=)
c.2772C>G (p.Leu924=)
c.1239C>G (p.Leu413=)
n.2002C>G
17g.63496918C>TCA501342422ACEc.3624C>T (p.Leu1208=)
c.1902C>T (p.Leu634=)
c.1779C>T (p.Leu593=)
n.634C>T
c.*1379C>T (n.*1379C>T)
c.*1353C>T (n.*1353C>T)
c.311C>T
n.498C>T
c.3075C>T (p.Leu1025=)
c.1962C>T (p.Leu654=)
c.3057C>T (p.Leu1019=)
c.2772C>T (p.Leu924=)
c.1239C>T (p.Leu413=)
n.2002C>T
gnomAD v4
17g.63496919C>ACA400567474ACEc.3625C>A (p.Arg1209Ser)
c.1903C>A (p.Arg635Ser)
c.1780C>A (p.Arg594Ser)
n.635C>A
c.*1380C>A (n.*1380C>A)
c.*1354C>A (n.*1354C>A)
c.312C>A
n.499C>A
c.3076C>A (p.Arg1026Ser)
c.1963C>A (p.Arg655Ser)
c.3058C>A (p.Arg1020Ser)
c.2773C>A (p.Arg925Ser)
c.1240C>A (p.Arg414Ser)
n.2003C>A
17g.63496919C=CA2269949804ACEc.3625C= (p.Arg1209=)
c.1903C= (p.Arg635=)
c.1780C= (p.Arg594=)
n.635C=
c.*1380C= (n.*1380C=)
c.*1354C= (n.*1354C=)
c.312C=
n.499C=
c.3076C= (p.Arg1026=)
c.1963C= (p.Arg655=)
c.3058C= (p.Arg1020=)
c.2773C= (p.Arg925=)
c.1240C= (p.Arg414=)
n.2003C=
17g.63496919C>GCA400567476ACEc.3625C>G (p.Arg1209Gly)
c.1903C>G (p.Arg635Gly)
c.1780C>G (p.Arg594Gly)
n.635C>G
c.*1380C>G (n.*1380C>G)
c.*1354C>G (n.*1354C>G)
c.312C>G
n.499C>G
c.3076C>G (p.Arg1026Gly)
c.1963C>G (p.Arg655Gly)
c.3058C>G (p.Arg1020Gly)
c.2773C>G (p.Arg925Gly)
c.1240C>G (p.Arg414Gly)
n.2003C>G
dbSNP gnomAD v3 gnomAD v4
17g.63496919C>TCA400567478ACEc.3625C>T (p.Arg1209Cys)
c.1903C>T (p.Arg635Cys)
c.1780C>T (p.Arg594Cys)
n.635C>T
c.*1380C>T (n.*1380C>T)
c.*1354C>T (n.*1354C>T)
c.312C>T
n.499C>T
c.3076C>T (p.Arg1026Cys)
c.1963C>T (p.Arg655Cys)
c.3058C>T (p.Arg1020Cys)
c.2773C>T (p.Arg925Cys)
c.1240C>T (p.Arg414Cys)
n.2003C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63496920G>ACA8700567ACEc.3626G>A (p.Arg1209His)
c.1904G>A (p.Arg635His)
c.1781G>A (p.Arg594His)
n.636G>A
c.*1381G>A (n.*1381G>A)
c.*1355G>A (n.*1355G>A)
c.313G>A
n.500G>A
c.3077G>A (p.Arg1026His)
c.1964G>A (p.Arg655His)
c.3059G>A (p.Arg1020His)
c.2774G>A (p.Arg925His)
c.1241G>A (p.Arg414His)
n.2004G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.63496920G>CCA8700568ACEc.3626G>C (p.Arg1209Pro)
c.1904G>C (p.Arg635Pro)
c.1781G>C (p.Arg594Pro)
n.636G>C
c.*1381G>C (n.*1381G>C)
c.*1355G>C (n.*1355G>C)
c.313G>C
n.500G>C
c.3077G>C (p.Arg1026Pro)
c.1964G>C (p.Arg655Pro)
c.3059G>C (p.Arg1020Pro)
c.2774G>C (p.Arg925Pro)
c.1241G>C (p.Arg414Pro)
n.2004G>C
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63496920G=CA2269949805ACEc.3626G= (p.Arg1209=)
c.1904G= (p.Arg635=)
c.1781G= (p.Arg594=)
n.636G=
c.*1381G= (n.*1381G=)
c.*1355G= (n.*1355G=)
c.313G=
n.500G=
c.3077G= (p.Arg1026=)
c.1964G= (p.Arg655=)
c.3059G= (p.Arg1020=)
c.2774G= (p.Arg925=)
c.1241G= (p.Arg414=)
n.2004G=
17g.63496920G>TCA400567483ACEc.3626G>T (p.Arg1209Leu)
c.1904G>T (p.Arg635Leu)
c.1781G>T (p.Arg594Leu)
n.636G>T
c.*1381G>T (n.*1381G>T)
c.*1355G>T (n.*1355G>T)
c.313G>T
n.500G>T
c.3077G>T (p.Arg1026Leu)
c.1964G>T (p.Arg655Leu)
c.3059G>T (p.Arg1020Leu)
c.2774G>T (p.Arg925Leu)
c.1241G>T (p.Arg414Leu)
n.2004G>T
COSMIC COSMIC COSMIC
17g.63496921C>ACA501342427ACEc.3627C>A (p.Arg1209=)
c.1905C>A (p.Arg635=)
c.1782C>A (p.Arg594=)
n.637C>A
c.*1382C>A (n.*1382C>A)
c.*1356C>A (n.*1356C>A)
c.314C>A
n.501C>A
c.3078C>A (p.Arg1026=)
c.1965C>A (p.Arg655=)
c.3060C>A (p.Arg1020=)
c.2775C>A (p.Arg925=)
c.1242C>A (p.Arg414=)
n.2005C>A
17g.63496921C>GCA501342428ACEc.3627C>G (p.Arg1209=)
c.1905C>G (p.Arg635=)
c.1782C>G (p.Arg594=)
n.637C>G
c.*1382C>G (n.*1382C>G)
c.*1356C>G (n.*1356C>G)
c.314C>G
n.501C>G
c.3078C>G (p.Arg1026=)
c.1965C>G (p.Arg655=)
c.3060C>G (p.Arg1020=)
c.2775C>G (p.Arg925=)
c.1242C>G (p.Arg414=)
n.2005C>G
17g.63496921C>TCA501342426ACEc.3627C>T (p.Arg1209=)
c.1905C>T (p.Arg635=)
c.1782C>T (p.Arg594=)
n.637C>T
c.*1382C>T (n.*1382C>T)
c.*1356C>T (n.*1356C>T)
c.314C>T
n.501C>T
c.3078C>T (p.Arg1026=)
c.1965C>T (p.Arg655=)
c.3060C>T (p.Arg1020=)
c.2775C>T (p.Arg925=)
c.1242C>T (p.Arg414=)
n.2005C>T
17g.63496922A=CA2269949806ACEc.3628A= (p.Thr1210=)
c.1906A= (p.Thr636=)
c.1783A= (p.Thr595=)
n.638A=
c.*1383A= (n.*1383A=)
c.*1357A= (n.*1357A=)
c.315A=
n.502A=
c.3079A= (p.Thr1027=)
c.1966A= (p.Thr656=)
c.3061A= (p.Thr1021=)
c.2776A= (p.Thr926=)
c.1243A= (p.Thr415=)
n.2006A=
17g.63496922A>CCA400567485ACEc.3628A>C (p.Thr1210Pro)
c.1906A>C (p.Thr636Pro)
c.1783A>C (p.Thr595Pro)
n.638A>C
c.*1383A>C (n.*1383A>C)
c.*1357A>C (n.*1357A>C)
c.315A>C
n.502A>C
c.3079A>C (p.Thr1027Pro)
c.1966A>C (p.Thr656Pro)
c.3061A>C (p.Thr1021Pro)
c.2776A>C (p.Thr926Pro)
c.1243A>C (p.Thr415Pro)
n.2006A>C
17g.63496922A>GCA400567489ACEc.3628A>G (p.Thr1210Ala)
c.1906A>G (p.Thr636Ala)
c.1783A>G (p.Thr595Ala)
n.638A>G
c.*1383A>G (n.*1383A>G)
c.*1357A>G (n.*1357A>G)
c.315A>G
n.502A>G
c.3079A>G (p.Thr1027Ala)
c.1966A>G (p.Thr656Ala)
c.3061A>G (p.Thr1021Ala)
c.2776A>G (p.Thr926Ala)
c.1243A>G (p.Thr415Ala)
n.2006A>G
dbSNP gnomAD v2 gnomAD v4
17g.63496922A>TCA400567487ACEc.3628A>T (p.Thr1210Ser)
c.1906A>T (p.Thr636Ser)
c.1783A>T (p.Thr595Ser)
n.638A>T
c.*1383A>T (n.*1383A>T)
c.*1357A>T (n.*1357A>T)
c.315A>T
n.502A>T
c.3079A>T (p.Thr1027Ser)
c.1966A>T (p.Thr656Ser)
c.3061A>T (p.Thr1021Ser)
c.2776A>T (p.Thr926Ser)
c.1243A>T (p.Thr415Ser)
n.2006A>T
17g.63496923C>ACA400567491ACEc.3629C>A (p.Thr1210Lys)
c.1907C>A (p.Thr636Lys)
c.1784C>A (p.Thr595Lys)
n.639C>A
c.*1384C>A (n.*1384C>A)
c.*1358C>A (n.*1358C>A)
c.316C>A
n.503C>A
c.3080C>A (p.Thr1027Lys)
c.1967C>A (p.Thr656Lys)
c.3062C>A (p.Thr1021Lys)
c.2777C>A (p.Thr926Lys)
c.1244C>A (p.Thr415Lys)
n.2007C>A
gnomAD v4
17g.63496923C=CA2269949807ACEc.3629C= (p.Thr1210=)
c.1907C= (p.Thr636=)
c.1784C= (p.Thr595=)
n.639C=
c.*1384C= (n.*1384C=)
c.*1358C= (n.*1358C=)
c.316C=
n.503C=
c.3080C= (p.Thr1027=)
c.1967C= (p.Thr656=)
c.3062C= (p.Thr1021=)
c.2777C= (p.Thr926=)
c.1244C= (p.Thr415=)
n.2007C=
17g.63496923C>GCA8700570ACEc.3629C>G (p.Thr1210Arg)
c.1907C>G (p.Thr636Arg)
c.1784C>G (p.Thr595Arg)
n.639C>G
c.*1384C>G (n.*1384C>G)
c.*1358C>G (n.*1358C>G)
c.316C>G
n.503C>G
c.3080C>G (p.Thr1027Arg)
c.1967C>G (p.Thr656Arg)
c.3062C>G (p.Thr1021Arg)
c.2777C>G (p.Thr926Arg)
c.1244C>G (p.Thr415Arg)
n.2007C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.63496923C>TCA8700569ACEc.3629C>T (p.Thr1210Met)
c.1907C>T (p.Thr636Met)
c.1784C>T (p.Thr595Met)
n.639C>T
c.*1384C>T (n.*1384C>T)
c.*1358C>T (n.*1358C>T)
c.316C>T
n.503C>T
c.3080C>T (p.Thr1027Met)
c.1967C>T (p.Thr656Met)
c.3062C>T (p.Thr1021Met)
c.2777C>T (p.Thr926Met)
c.1244C>T (p.Thr415Met)
n.2007C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496924G>ACA8700571ACEc.3630G>A (p.Thr1210=)
c.1908G>A (p.Thr636=)
c.1785G>A (p.Thr595=)
n.640G>A
c.*1385G>A (n.*1385G>A)
c.*1359G>A (n.*1359G>A)
c.317G>A
n.504G>A
c.3081G>A (p.Thr1027=)
c.1968G>A (p.Thr656=)
c.3063G>A (p.Thr1021=)
c.2778G>A (p.Thr926=)
c.1245G>A (p.Thr415=)
n.2008G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496924G>CCA501342429ACEc.3630G>C (p.Thr1210=)
c.1908G>C (p.Thr636=)
c.1785G>C (p.Thr595=)
n.640G>C
c.*1385G>C (n.*1385G>C)
c.*1359G>C (n.*1359G>C)
c.317G>C
n.504G>C
c.3081G>C (p.Thr1027=)
c.1968G>C (p.Thr656=)
c.3063G>C (p.Thr1021=)
c.2778G>C (p.Thr926=)
c.1245G>C (p.Thr415=)
n.2008G>C
ClinVar dbSNP
17g.63496924G=CA2269949808ACEc.3630G= (p.Thr1210=)
c.1908G= (p.Thr636=)
c.1785G= (p.Thr595=)
n.640G=
c.*1385G= (n.*1385G=)
c.*1359G= (n.*1359G=)
c.317G=
n.504G=
c.3081G= (p.Thr1027=)
c.1968G= (p.Thr656=)
c.3063G= (p.Thr1021=)
c.2778G= (p.Thr926=)
c.1245G= (p.Thr415=)
n.2008G=
17g.63496924G>TCA501342430ACEc.3630G>T (p.Thr1210=)
c.1908G>T (p.Thr636=)
c.1785G>T (p.Thr595=)
n.640G>T
c.*1385G>T (n.*1385G>T)
c.*1359G>T (n.*1359G>T)
c.317G>T
n.504G>T
c.3081G>T (p.Thr1027=)
c.1968G>T (p.Thr656=)
c.3063G>T (p.Thr1021=)
c.2778G>T (p.Thr926=)
c.1245G>T (p.Thr415=)
n.2008G>T
gnomAD v4
17g.63496925G>ACA8700572ACEc.3631G>A (p.Glu1211Lys)
c.1909G>A (p.Glu637Lys)
c.1786G>A (p.Glu596Lys)
n.641G>A
c.*1386G>A (n.*1386G>A)
c.*1360G>A (n.*1360G>A)
c.318G>A
n.505G>A
c.3082G>A (p.Glu1028Lys)
c.1969G>A (p.Glu657Lys)
c.3064G>A (p.Glu1022Lys)
c.2779G>A (p.Glu927Lys)
c.1246G>A (p.Glu416Lys)
n.2009G>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63496925G>CCA400567496ACEc.3631G>C (p.Glu1211Gln)
c.1909G>C (p.Glu637Gln)
c.1786G>C (p.Glu596Gln)
n.641G>C
c.*1386G>C (n.*1386G>C)
c.*1360G>C (n.*1360G>C)
c.318G>C
n.505G>C
c.3082G>C (p.Glu1028Gln)
c.1969G>C (p.Glu657Gln)
c.3064G>C (p.Glu1022Gln)
c.2779G>C (p.Glu927Gln)
c.1246G>C (p.Glu416Gln)
n.2009G>C
17g.63496925G=CA2269949809ACEc.3631G= (p.Glu1211=)
c.1909G= (p.Glu637=)
c.1786G= (p.Glu596=)
n.641G=
c.*1386G= (n.*1386G=)
c.*1360G= (n.*1360G=)
c.318G=
n.505G=
c.3082G= (p.Glu1028=)
c.1969G= (p.Glu657=)
c.3064G= (p.Glu1022=)
c.2779G= (p.Glu927=)
c.1246G= (p.Glu416=)
n.2009G=
17g.63496925G>TCA400567498ACEc.3631G>T (p.Glu1211Ter)
c.1909G>T (p.Glu637Ter)
c.1786G>T (p.Glu596Ter)
n.641G>T
c.*1386G>T (n.*1386G>T)
c.*1360G>T (n.*1360G>T)
c.318G>T
n.505G>T
c.3082G>T (p.Glu1028Ter)
c.1969G>T (p.Glu657Ter)
c.3064G>T (p.Glu1022Ter)
c.2779G>T (p.Glu927Ter)
c.1246G>T (p.Glu416Ter)
n.2009G>T
dbSNP gnomAD v2 gnomAD v4
17g.63496926A=CA2269949810ACEc.3632A= (p.Glu1211=)
c.1910A= (p.Glu637=)
c.1787A= (p.Glu596=)
n.642A=
c.*1387A= (n.*1387A=)
c.*1361A= (n.*1361A=)
c.319A=
n.506A=
c.3083A= (p.Glu1028=)
c.1970A= (p.Glu657=)
c.3065A= (p.Glu1022=)
c.2780A= (p.Glu927=)
c.1247A= (p.Glu416=)
n.2010A=
17g.63496926A>CCA400567507ACEc.3632A>C (p.Glu1211Ala)
c.1910A>C (p.Glu637Ala)
c.1787A>C (p.Glu596Ala)
n.642A>C
c.*1387A>C (n.*1387A>C)
c.*1361A>C (n.*1361A>C)
c.319A>C
n.506A>C
c.3083A>C (p.Glu1028Ala)
c.1970A>C (p.Glu657Ala)
c.3065A>C (p.Glu1022Ala)
c.2780A>C (p.Glu927Ala)
c.1247A>C (p.Glu416Ala)
n.2010A>C
17g.63496926A>GCA400567510ACEc.3632A>G (p.Glu1211Gly)
c.1910A>G (p.Glu637Gly)
c.1787A>G (p.Glu596Gly)
n.642A>G
c.*1387A>G (n.*1387A>G)
c.*1361A>G (n.*1361A>G)
c.319A>G
n.506A>G
c.3083A>G (p.Glu1028Gly)
c.1970A>G (p.Glu657Gly)
c.3065A>G (p.Glu1022Gly)
c.2780A>G (p.Glu927Gly)
c.1247A>G (p.Glu416Gly)
n.2010A>G
17g.63496926A>TCA400567513ACEc.3632A>T (p.Glu1211Val)
c.1910A>T (p.Glu637Val)
c.1787A>T (p.Glu596Val)
n.642A>T
c.*1387A>T (n.*1387A>T)
c.*1361A>T (n.*1361A>T)
c.319A>T
n.506A>T
c.3083A>T (p.Glu1028Val)
c.1970A>T (p.Glu657Val)
c.3065A>T (p.Glu1022Val)
c.2780A>T (p.Glu927Val)
c.1247A>T (p.Glu416Val)
n.2010A>T
dbSNP gnomAD v4
17g.63496927G>ACA501342433ACEc.3633G>A (p.Glu1211=)
c.1911G>A (p.Glu637=)
c.1788G>A (p.Glu596=)
n.643G>A
c.*1388G>A (n.*1388G>A)
c.*1362G>A (n.*1362G>A)
c.320G>A
n.507G>A
c.3084G>A (p.Glu1028=)
c.1971G>A (p.Glu657=)
c.3066G>A (p.Glu1022=)
c.2781G>A (p.Glu927=)
c.1248G>A (p.Glu416=)
n.2011G>A
dbSNP gnomAD v4
17g.63496927G>CCA400567517ACEc.3633G>C (p.Glu1211Asp)
c.1911G>C (p.Glu637Asp)
c.1788G>C (p.Glu596Asp)
n.643G>C
c.*1388G>C (n.*1388G>C)
c.*1362G>C (n.*1362G>C)
c.320G>C
n.507G>C
c.3084G>C (p.Glu1028Asp)
c.1971G>C (p.Glu657Asp)
c.3066G>C (p.Glu1022Asp)
c.2781G>C (p.Glu927Asp)
c.1248G>C (p.Glu416Asp)
n.2011G>C
17g.63496927G=CA2269949811ACEc.3633G= (p.Glu1211=)
c.1911G= (p.Glu637=)
c.1788G= (p.Glu596=)
n.643G=
c.*1388G= (n.*1388G=)
c.*1362G= (n.*1362G=)
c.320G=
n.507G=
c.3084G= (p.Glu1028=)
c.1971G= (p.Glu657=)
c.3066G= (p.Glu1022=)
c.2781G= (p.Glu927=)
c.1248G= (p.Glu416=)
n.2011G=
17g.63496927G>TCA400567518ACEc.3633G>T (p.Glu1211Asp)
c.1911G>T (p.Glu637Asp)
c.1788G>T (p.Glu596Asp)
n.643G>T
c.*1388G>T (n.*1388G>T)
c.*1362G>T (n.*1362G>T)
c.320G>T
n.507G>T
c.3084G>T (p.Glu1028Asp)
c.1971G>T (p.Glu657Asp)
c.3066G>T (p.Glu1022Asp)
c.2781G>T (p.Glu927Asp)
c.1248G>T (p.Glu416Asp)
n.2011G>T
17g.63496928A=CA2269949812ACEc.3634A= (p.Asn1212=)
c.1912A= (p.Asn638=)
c.1789A= (p.Asn597=)
n.644A=
c.*1389A= (n.*1389A=)
c.*1363A= (n.*1363A=)
c.321A=
n.508A=
c.3085A= (p.Asn1029=)
c.1972A= (p.Asn658=)
c.3067A= (p.Asn1023=)
c.2782A= (p.Asn928=)
c.1249A= (p.Asn417=)
n.2012A=
17g.63496928A>CCA400567521ACEc.3634A>C (p.Asn1212His)
c.1912A>C (p.Asn638His)
c.1789A>C (p.Asn597His)
n.644A>C
c.*1389A>C (n.*1389A>C)
c.*1363A>C (n.*1363A>C)
c.321A>C
n.508A>C
c.3085A>C (p.Asn1029His)
c.1972A>C (p.Asn658His)
c.3067A>C (p.Asn1023His)
c.2782A>C (p.Asn928His)
c.1249A>C (p.Asn417His)
n.2012A>C
17g.63496928A>GCA292890151ACEc.3634A>G (p.Asn1212Asp)
c.1912A>G (p.Asn638Asp)
c.1789A>G (p.Asn597Asp)
n.644A>G
c.*1389A>G (n.*1389A>G)
c.*1363A>G (n.*1363A>G)
c.321A>G
n.508A>G
c.3085A>G (p.Asn1029Asp)
c.1972A>G (p.Asn658Asp)
c.3067A>G (p.Asn1023Asp)
c.2782A>G (p.Asn928Asp)
c.1249A>G (p.Asn417Asp)
n.2012A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63496928A>TCA400567522ACEc.3634A>T (p.Asn1212Tyr)
c.1912A>T (p.Asn638Tyr)
c.1789A>T (p.Asn597Tyr)
n.644A>T
c.*1389A>T (n.*1389A>T)
c.*1363A>T (n.*1363A>T)
c.321A>T
n.508A>T
c.3085A>T (p.Asn1029Tyr)
c.1972A>T (p.Asn658Tyr)
c.3067A>T (p.Asn1023Tyr)
c.2782A>T (p.Asn928Tyr)
c.1249A>T (p.Asn417Tyr)
n.2012A>T
17g.63496929A=CA2269949813ACEc.3635A= (p.Asn1212=)
c.1913A= (p.Asn638=)
c.1790A= (p.Asn597=)
n.645A=
c.*1390A= (n.*1390A=)
c.*1364A= (n.*1364A=)
c.322A=
n.509A=
c.3086A= (p.Asn1029=)
c.1973A= (p.Asn658=)
c.3068A= (p.Asn1023=)
c.2783A= (p.Asn928=)
c.1250A= (p.Asn417=)
n.2013A=
17g.63496929A>CCA8700573ACEc.3635A>C (p.Asn1212Thr)
c.1913A>C (p.Asn638Thr)
c.1790A>C (p.Asn597Thr)
n.645A>C
c.*1390A>C (n.*1390A>C)
c.*1364A>C (n.*1364A>C)
c.322A>C
n.509A>C
c.3086A>C (p.Asn1029Thr)
c.1973A>C (p.Asn658Thr)
c.3068A>C (p.Asn1023Thr)
c.2783A>C (p.Asn928Thr)
c.1250A>C (p.Asn417Thr)
n.2013A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496929A>GCA400567524ACEc.3635A>G (p.Asn1212Ser)
c.1913A>G (p.Asn638Ser)
c.1790A>G (p.Asn597Ser)
n.645A>G
c.*1390A>G (n.*1390A>G)
c.*1364A>G (n.*1364A>G)
c.322A>G
n.509A>G
c.3086A>G (p.Asn1029Ser)
c.1973A>G (p.Asn658Ser)
c.3068A>G (p.Asn1023Ser)
c.2783A>G (p.Asn928Ser)
c.1250A>G (p.Asn417Ser)
n.2013A>G
dbSNP gnomAD v4
17g.63496929A>TCA400567527ACEc.3635A>T (p.Asn1212Ile)
c.1913A>T (p.Asn638Ile)
c.1790A>T (p.Asn597Ile)
n.645A>T
c.*1390A>T (n.*1390A>T)
c.*1364A>T (n.*1364A>T)
c.322A>T
n.509A>T
c.3086A>T (p.Asn1029Ile)
c.1973A>T (p.Asn658Ile)
c.3068A>T (p.Asn1023Ile)
c.2783A>T (p.Asn928Ile)
c.1250A>T (p.Asn417Ile)
n.2013A>T
17g.63496930C>ACA400567530ACEc.3636C>A (p.Asn1212Lys)
c.1914C>A (p.Asn638Lys)
c.1791C>A (p.Asn597Lys)
n.646C>A
c.*1391C>A (n.*1391C>A)
c.*1365C>A (n.*1365C>A)
c.323C>A
n.510C>A
c.3087C>A (p.Asn1029Lys)
c.1974C>A (p.Asn658Lys)
c.3069C>A (p.Asn1023Lys)
c.2784C>A (p.Asn928Lys)
c.1251C>A (p.Asn417Lys)
n.2014C>A
17g.63496930C=CA2269949814ACEc.3636C= (p.Asn1212=)
c.1914C= (p.Asn638=)
c.1791C= (p.Asn597=)
n.646C=
c.*1391C= (n.*1391C=)
c.*1365C= (n.*1365C=)
c.323C=
n.510C=
c.3087C= (p.Asn1029=)
c.1974C= (p.Asn658=)
c.3069C= (p.Asn1023=)
c.2784C= (p.Asn928=)
c.1251C= (p.Asn417=)
n.2014C=
17g.63496930C>GCA400567534ACEc.3636C>G (p.Asn1212Lys)
c.1914C>G (p.Asn638Lys)
c.1791C>G (p.Asn597Lys)
n.646C>G
c.*1391C>G (n.*1391C>G)
c.*1365C>G (n.*1365C>G)
c.323C>G
n.510C>G
c.3087C>G (p.Asn1029Lys)
c.1974C>G (p.Asn658Lys)
c.3069C>G (p.Asn1023Lys)
c.2784C>G (p.Asn928Lys)
c.1251C>G (p.Asn417Lys)
n.2014C>G
17g.63496930C>TCA501342438ACEc.3636C>T (p.Asn1212=)
c.1914C>T (p.Asn638=)
c.1791C>T (p.Asn597=)
n.646C>T
c.*1391C>T (n.*1391C>T)
c.*1365C>T (n.*1365C>T)
c.323C>T
n.510C>T
c.3087C>T (p.Asn1029=)
c.1974C>T (p.Asn658=)
c.3069C>T (p.Asn1023=)
c.2784C>T (p.Asn928=)
c.1251C>T (p.Asn417=)
n.2014C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63496931G>ACA8700574ACEc.3637G>A (p.Glu1213Lys)
c.1915G>A (p.Glu639Lys)
c.1792G>A (p.Glu598Lys)
n.647G>A
c.*1392G>A (n.*1392G>A)
c.*1366G>A (n.*1366G>A)
c.324G>A
n.511G>A
c.3088G>A (p.Glu1030Lys)
c.1975G>A (p.Glu659Lys)
c.3070G>A (p.Glu1024Lys)
c.2785G>A (p.Glu929Lys)
c.1252G>A (p.Glu418Lys)
n.2015G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496931G>CCA400567540ACEc.3637G>C (p.Glu1213Gln)
c.1915G>C (p.Glu639Gln)
c.1792G>C (p.Glu598Gln)
n.647G>C
c.*1392G>C (n.*1392G>C)
c.*1366G>C (n.*1366G>C)
c.324G>C
n.511G>C
c.3088G>C (p.Glu1030Gln)
c.1975G>C (p.Glu659Gln)
c.3070G>C (p.Glu1024Gln)
c.2785G>C (p.Glu929Gln)
c.1252G>C (p.Glu418Gln)
n.2015G>C
gnomAD v4
17g.63496931G=CA2269949815ACEc.3637G= (p.Glu1213=)
c.1915G= (p.Glu639=)
c.1792G= (p.Glu598=)
n.647G=
c.*1392G= (n.*1392G=)
c.*1366G= (n.*1366G=)
c.324G=
n.511G=
c.3088G= (p.Glu1030=)
c.1975G= (p.Glu659=)
c.3070G= (p.Glu1024=)
c.2785G= (p.Glu929=)
c.1252G= (p.Glu418=)
n.2015G=
17g.63496931G>TCA400567543ACEc.3637G>T (p.Glu1213Ter)
c.1915G>T (p.Glu639Ter)
c.1792G>T (p.Glu598Ter)
n.647G>T
c.*1392G>T (n.*1392G>T)
c.*1366G>T (n.*1366G>T)
c.324G>T
n.511G>T
c.3088G>T (p.Glu1030Ter)
c.1975G>T (p.Glu659Ter)
c.3070G>T (p.Glu1024Ter)
c.2785G>T (p.Glu929Ter)
c.1252G>T (p.Glu418Ter)
n.2015G>T
gnomAD v4
17g.63496932A=CA2269949816ACEc.3638A= (p.Glu1213=)
c.1916A= (p.Glu639=)
c.1793A= (p.Glu598=)
n.648A=
c.*1393A= (n.*1393A=)
c.*1367A= (n.*1367A=)
c.325A=
n.512A=
c.3089A= (p.Glu1030=)
c.1976A= (p.Glu659=)
c.3071A= (p.Glu1024=)
c.2786A= (p.Glu929=)
c.1253A= (p.Glu418=)
n.2016A=
17g.63496932A>CCA400567546ACEc.3638A>C (p.Glu1213Ala)
c.1916A>C (p.Glu639Ala)
c.1793A>C (p.Glu598Ala)
n.648A>C
c.*1393A>C (n.*1393A>C)
c.*1367A>C (n.*1367A>C)
c.325A>C
n.512A>C
c.3089A>C (p.Glu1030Ala)
c.1976A>C (p.Glu659Ala)
c.3071A>C (p.Glu1024Ala)
c.2786A>C (p.Glu929Ala)
c.1253A>C (p.Glu418Ala)
n.2016A>C
dbSNP gnomAD v3 gnomAD v4
17g.63496932A>GCA400567549ACEc.3638A>G (p.Glu1213Gly)
c.1916A>G (p.Glu639Gly)
c.1793A>G (p.Glu598Gly)
n.648A>G
c.*1393A>G (n.*1393A>G)
c.*1367A>G (n.*1367A>G)
c.325A>G
n.512A>G
c.3089A>G (p.Glu1030Gly)
c.1976A>G (p.Glu659Gly)
c.3071A>G (p.Glu1024Gly)
c.2786A>G (p.Glu929Gly)
c.1253A>G (p.Glu418Gly)
n.2016A>G
17g.63496932A>TCA400567552ACEc.3638A>T (p.Glu1213Val)
c.1916A>T (p.Glu639Val)
c.1793A>T (p.Glu598Val)
n.648A>T
c.*1393A>T (n.*1393A>T)
c.*1367A>T (n.*1367A>T)
c.325A>T
n.512A>T
c.3089A>T (p.Glu1030Val)
c.1976A>T (p.Glu659Val)
c.3071A>T (p.Glu1024Val)
c.2786A>T (p.Glu929Val)
c.1253A>T (p.Glu418Val)
n.2016A>T
17g.63496933G>ACA8700575ACEc.3639G>A (p.Glu1213=)
c.1917G>A (p.Glu639=)
c.1794G>A (p.Glu598=)
n.649G>A
c.*1394G>A (n.*1394G>A)
c.*1368G>A (n.*1368G>A)
c.326G>A
n.513G>A
c.3090G>A (p.Glu1030=)
c.1977G>A (p.Glu659=)
c.3072G>A (p.Glu1024=)
c.2787G>A (p.Glu929=)
c.1254G>A (p.Glu418=)
n.2017G>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63496933G>CCA400567558ACEc.3639G>C (p.Glu1213Asp)
c.1917G>C (p.Glu639Asp)
c.1794G>C (p.Glu598Asp)
n.649G>C
c.*1394G>C (n.*1394G>C)
c.*1368G>C (n.*1368G>C)
c.326G>C
n.513G>C
c.3090G>C (p.Glu1030Asp)
c.1977G>C (p.Glu659Asp)
c.3072G>C (p.Glu1024Asp)
c.2787G>C (p.Glu929Asp)
c.1254G>C (p.Glu418Asp)
n.2017G>C
17g.63496933G=CA2269949817ACEc.3639G= (p.Glu1213=)
c.1917G= (p.Glu639=)
c.1794G= (p.Glu598=)
n.649G=
c.*1394G= (n.*1394G=)
c.*1368G= (n.*1368G=)
c.326G=
n.513G=
c.3090G= (p.Glu1030=)
c.1977G= (p.Glu659=)
c.3072G= (p.Glu1024=)
c.2787G= (p.Glu929=)
c.1254G= (p.Glu418=)
n.2017G=
17g.63496933G>TCA400567560ACEc.3639G>T (p.Glu1213Asp)
c.1917G>T (p.Glu639Asp)
c.1794G>T (p.Glu598Asp)
n.649G>T
c.*1394G>T (n.*1394G>T)
c.*1368G>T (n.*1368G>T)
c.326G>T
n.513G>T
c.3090G>T (p.Glu1030Asp)
c.1977G>T (p.Glu659Asp)
c.3072G>T (p.Glu1024Asp)
c.2787G>T (p.Glu929Asp)
c.1254G>T (p.Glu418Asp)
n.2017G>T
17g.63496934C>ACA400567565ACEc.3640C>A (p.Leu1214Met)
c.1918C>A (p.Leu640Met)
c.1795C>A (p.Leu599Met)
n.650C>A
c.*1395C>A (n.*1395C>A)
c.*1369C>A (n.*1369C>A)
c.327C>A
n.514C>A
c.3091C>A (p.Leu1031Met)
c.1978C>A (p.Leu660Met)
c.3073C>A (p.Leu1025Met)
c.2788C>A (p.Leu930Met)
c.1255C>A (p.Leu419Met)
n.2018C>A
17g.63496934C>GCA400567566ACEc.3640C>G (p.Leu1214Val)
c.1918C>G (p.Leu640Val)
c.1795C>G (p.Leu599Val)
n.650C>G
c.*1395C>G (n.*1395C>G)
c.*1369C>G (n.*1369C>G)
c.327C>G
n.514C>G
c.3091C>G (p.Leu1031Val)
c.1978C>G (p.Leu660Val)
c.3073C>G (p.Leu1025Val)
c.2788C>G (p.Leu930Val)
c.1255C>G (p.Leu419Val)
n.2018C>G
17g.63496934C>TCA501342440ACEc.3640C>T (p.Leu1214=)
c.1918C>T (p.Leu640=)
c.1795C>T (p.Leu599=)
n.650C>T
c.*1395C>T (n.*1395C>T)
c.*1369C>T (n.*1369C>T)
c.327C>T
n.514C>T
c.3091C>T (p.Leu1031=)
c.1978C>T (p.Leu660=)
c.3073C>T (p.Leu1025=)
c.2788C>T (p.Leu930=)
c.1255C>T (p.Leu419=)
n.2018C>T
17g.63496935T>ACA400567577ACEc.3641T>A (p.Leu1214Gln)
c.1919T>A (p.Leu640Gln)
c.1796T>A (p.Leu599Gln)
n.651T>A
c.*1396T>A (n.*1396T>A)
c.*1370T>A (n.*1370T>A)
c.328T>A
n.515T>A
c.3092T>A (p.Leu1031Gln)
c.1979T>A (p.Leu660Gln)
c.3074T>A (p.Leu1025Gln)
c.2789T>A (p.Leu930Gln)
c.1256T>A (p.Leu419Gln)
n.2019T>A
17g.63496935T>CCA400567574ACEc.3641T>C (p.Leu1214Pro)
c.1919T>C (p.Leu640Pro)
c.1796T>C (p.Leu599Pro)
n.651T>C
c.*1396T>C (n.*1396T>C)
c.*1370T>C (n.*1370T>C)
c.328T>C
n.515T>C
c.3092T>C (p.Leu1031Pro)
c.1979T>C (p.Leu660Pro)
c.3074T>C (p.Leu1025Pro)
c.2789T>C (p.Leu930Pro)
c.1256T>C (p.Leu419Pro)
n.2019T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63496935T>GCA400567570ACEc.3641T>G (p.Leu1214Arg)
c.1919T>G (p.Leu640Arg)
c.1796T>G (p.Leu599Arg)
n.651T>G
c.*1396T>G (n.*1396T>G)
c.*1370T>G (n.*1370T>G)
c.328T>G
n.515T>G
c.3092T>G (p.Leu1031Arg)
c.1979T>G (p.Leu660Arg)
c.3074T>G (p.Leu1025Arg)
c.2789T>G (p.Leu930Arg)
c.1256T>G (p.Leu419Arg)
n.2019T>G
17g.63496935T=CA2269949818ACEc.3641T= (p.Leu1214=)
c.1919T= (p.Leu640=)
c.1796T= (p.Leu599=)
n.651T=
c.*1396T= (n.*1396T=)
c.*1370T= (n.*1370T=)
c.328T=
n.515T=
c.3092T= (p.Leu1031=)
c.1979T= (p.Leu660=)
c.3074T= (p.Leu1025=)
c.2789T= (p.Leu930=)
c.1256T= (p.Leu419=)
n.2019T=
17g.63496936G>ACA292890152ACEc.3642G>A (p.Leu1214=)
c.1920G>A (p.Leu640=)
c.1797G>A (p.Leu599=)
n.652G>A
c.*1397G>A (n.*1397G>A)
c.*1371G>A (n.*1371G>A)
c.329G>A
n.516G>A
c.3093G>A (p.Leu1031=)
c.1980G>A (p.Leu660=)
c.3075G>A (p.Leu1025=)
c.2790G>A (p.Leu930=)
c.1257G>A (p.Leu419=)
n.2020G>A
dbSNP gnomAD v2 gnomAD v4
17g.63496936G>CCA501342444ACEc.3642G>C (p.Leu1214=)
c.1920G>C (p.Leu640=)
c.1797G>C (p.Leu599=)
n.652G>C
c.*1397G>C (n.*1397G>C)
c.*1371G>C (n.*1371G>C)
c.329G>C
n.516G>C
c.3093G>C (p.Leu1031=)
c.1980G>C (p.Leu660=)
c.3075G>C (p.Leu1025=)
c.2790G>C (p.Leu930=)
c.1257G>C (p.Leu419=)
n.2020G>C
17g.63496936G=CA2269949819ACEc.3642G= (p.Leu1214=)
c.1920G= (p.Leu640=)
c.1797G= (p.Leu599=)
n.652G=
c.*1397G= (n.*1397G=)
c.*1371G= (n.*1371G=)
c.329G=
n.516G=
c.3093G= (p.Leu1031=)
c.1980G= (p.Leu660=)
c.3075G= (p.Leu1025=)
c.2790G= (p.Leu930=)
c.1257G= (p.Leu419=)
n.2020G=
17g.63496936G>TCA292890155ACEc.3642G>T (p.Leu1214=)
c.1920G>T (p.Leu640=)
c.1797G>T (p.Leu599=)
n.652G>T
c.*1397G>T (n.*1397G>T)
c.*1371G>T (n.*1371G>T)
c.329G>T
n.516G>T
c.3093G>T (p.Leu1031=)
c.1980G>T (p.Leu660=)
c.3075G>T (p.Leu1025=)
c.2790G>T (p.Leu930=)
c.1257G>T (p.Leu419=)
n.2020G>T
dbSNP gnomAD v4
17g.63496937C>ACA400567580ACEc.3643C>A (p.His1215Asn)
c.1921C>A (p.His641Asn)
c.1798C>A (p.His600Asn)
n.653C>A
c.*1398C>A (n.*1398C>A)
c.*1372C>A (n.*1372C>A)
c.330C>A
n.517C>A
c.3094C>A (p.His1032Asn)
c.1981C>A (p.His661Asn)
c.3076C>A (p.His1026Asn)
c.2791C>A (p.His931Asn)
c.1258C>A (p.His420Asn)
n.2021C>A
17g.63496937C>GCA400567583ACEc.3643C>G (p.His1215Asp)
c.1921C>G (p.His641Asp)
c.1798C>G (p.His600Asp)
n.653C>G
c.*1398C>G (n.*1398C>G)
c.*1372C>G (n.*1372C>G)
c.330C>G
n.517C>G
c.3094C>G (p.His1032Asp)
c.1981C>G (p.His661Asp)
c.3076C>G (p.His1026Asp)
c.2791C>G (p.His931Asp)
c.1258C>G (p.His420Asp)
n.2021C>G
17g.63496937C>TCA400567586ACEc.3643C>T (p.His1215Tyr)
c.1921C>T (p.His641Tyr)
c.1798C>T (p.His600Tyr)
n.653C>T
c.*1398C>T (n.*1398C>T)
c.*1372C>T (n.*1372C>T)
c.330C>T
n.517C>T
c.3094C>T (p.His1032Tyr)
c.1981C>T (p.His661Tyr)
c.3076C>T (p.His1026Tyr)
c.2791C>T (p.His931Tyr)
c.1258C>T (p.His420Tyr)
n.2021C>T
17g.63496938A=CA2269949820ACEc.3644A= (p.His1215=)
c.1922A= (p.His641=)
c.1799A= (p.His600=)
n.654A=
c.*1399A= (n.*1399A=)
c.*1373A= (n.*1373A=)
c.331A=
n.518A=
c.3095A= (p.His1032=)
c.1982A= (p.His661=)
c.3077A= (p.His1026=)
c.2792A= (p.His931=)
c.1259A= (p.His420=)
n.2022A=
17g.63496938A>CCA400567591ACEc.3644A>C (p.His1215Pro)
c.1922A>C (p.His641Pro)
c.1799A>C (p.His600Pro)
n.654A>C
c.*1399A>C (n.*1399A>C)
c.*1373A>C (n.*1373A>C)
c.331A>C
n.518A>C
c.3095A>C (p.His1032Pro)
c.1982A>C (p.His661Pro)
c.3077A>C (p.His1026Pro)
c.2792A>C (p.His931Pro)
c.1259A>C (p.His420Pro)
n.2022A>C
17g.63496938A>GCA292890157ACEc.3644A>G (p.His1215Arg)
c.1922A>G (p.His641Arg)
c.1799A>G (p.His600Arg)
n.654A>G
c.*1399A>G (n.*1399A>G)
c.*1373A>G (n.*1373A>G)
c.331A>G
n.518A>G
c.3095A>G (p.His1032Arg)
c.1982A>G (p.His661Arg)
c.3077A>G (p.His1026Arg)
c.2792A>G (p.His931Arg)
c.1259A>G (p.His420Arg)
n.2022A>G
dbSNP gnomAD v4
17g.63496938A>TCA400567596ACEc.3644A>T (p.His1215Leu)
c.1922A>T (p.His641Leu)
c.1799A>T (p.His600Leu)
n.654A>T
c.*1399A>T (n.*1399A>T)
c.*1373A>T (n.*1373A>T)
c.331A>T
n.518A>T
c.3095A>T (p.His1032Leu)
c.1982A>T (p.His661Leu)
c.3077A>T (p.His1026Leu)
c.2792A>T (p.His931Leu)
c.1259A>T (p.His420Leu)
n.2022A>T
17g.63496939T>ACA400567598ACEc.3645T>A (p.His1215Gln)
c.1923T>A (p.His641Gln)
c.1800T>A (p.His600Gln)
n.655T>A
c.*1400T>A (n.*1400T>A)
c.*1374T>A (n.*1374T>A)
c.332T>A
n.519T>A
c.3096T>A (p.His1032Gln)
c.1983T>A (p.His661Gln)
c.3078T>A (p.His1026Gln)
c.2793T>A (p.His931Gln)
c.1260T>A (p.His420Gln)
n.2023T>A
17g.63496939T>CCA8700576ACEc.3645T>C (p.His1215=)
c.1923T>C (p.His641=)
c.1800T>C (p.His600=)
n.655T>C
c.*1400T>C (n.*1400T>C)
c.*1374T>C (n.*1374T>C)
c.332T>C
n.519T>C
c.3096T>C (p.His1032=)
c.1983T>C (p.His661=)
c.3078T>C (p.His1026=)
c.2793T>C (p.His931=)
c.1260T>C (p.His420=)
n.2023T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496939T>GCA400567601ACEc.3645T>G (p.His1215Gln)
c.1923T>G (p.His641Gln)
c.1800T>G (p.His600Gln)
n.655T>G
c.*1400T>G (n.*1400T>G)
c.*1374T>G (n.*1374T>G)
c.332T>G
n.519T>G
c.3096T>G (p.His1032Gln)
c.1983T>G (p.His661Gln)
c.3078T>G (p.His1026Gln)
c.2793T>G (p.His931Gln)
c.1260T>G (p.His420Gln)
n.2023T>G
dbSNP
17g.63496939T=CA2269949821ACEc.3645T= (p.His1215=)
c.1923T= (p.His641=)
c.1800T= (p.His600=)
n.655T=
c.*1400T= (n.*1400T=)
c.*1374T= (n.*1374T=)
c.332T=
n.519T=
c.3096T= (p.His1032=)
c.1983T= (p.His661=)
c.3078T= (p.His1026=)
c.2793T= (p.His931=)
c.1260T= (p.His420=)
n.2023T=
17g.63496940G>ACA400567604ACEc.3646G>A (p.Gly1216Arg)
c.1924G>A (p.Gly642Arg)
c.1801G>A (p.Gly601Arg)
n.656G>A
c.*1401G>A (n.*1401G>A)
c.*1375G>A (n.*1375G>A)
c.333G>A
n.520G>A
c.3097G>A (p.Gly1033Arg)
c.1984G>A (p.Gly662Arg)
c.3079G>A (p.Gly1027Arg)
c.2794G>A (p.Gly932Arg)
c.1261G>A (p.Gly421Arg)
n.2024G>A
dbSNP gnomAD v4
17g.63496940G>CCA400567606ACEc.3646G>C (p.Gly1216Arg)
c.1924G>C (p.Gly642Arg)
c.1801G>C (p.Gly601Arg)
n.656G>C
c.*1401G>C (n.*1401G>C)
c.*1375G>C (n.*1375G>C)
c.333G>C
n.520G>C
c.3097G>C (p.Gly1033Arg)
c.1984G>C (p.Gly662Arg)
c.3079G>C (p.Gly1027Arg)
c.2794G>C (p.Gly932Arg)
c.1261G>C (p.Gly421Arg)
n.2024G>C
17g.63496940G=CA2269949822ACEc.3646G= (p.Gly1216=)
c.1924G= (p.Gly642=)
c.1801G= (p.Gly601=)
n.656G=
c.*1401G= (n.*1401G=)
c.*1375G= (n.*1375G=)
c.333G=
n.520G=
c.3097G= (p.Gly1033=)
c.1984G= (p.Gly662=)
c.3079G= (p.Gly1027=)
c.2794G= (p.Gly932=)
c.1261G= (p.Gly421=)
n.2024G=
17g.63496940G>TCA400567608ACEc.3646G>T (p.Gly1216Trp)
c.1924G>T (p.Gly642Trp)
c.1801G>T (p.Gly601Trp)
n.656G>T
c.*1401G>T (n.*1401G>T)
c.*1375G>T (n.*1375G>T)
c.333G>T
n.520G>T
c.3097G>T (p.Gly1033Trp)
c.1984G>T (p.Gly662Trp)
c.3079G>T (p.Gly1027Trp)
c.2794G>T (p.Gly932Trp)
c.1261G>T (p.Gly421Trp)
n.2024G>T
17g.63496941G>ACA400567619ACEc.3647G>A (p.Gly1216Glu)
c.1925G>A (p.Gly642Glu)
c.1802G>A (p.Gly601Glu)
n.657G>A
c.*1402G>A (n.*1402G>A)
c.*1376G>A (n.*1376G>A)
c.334G>A
n.521G>A
c.3098G>A (p.Gly1033Glu)
c.1985G>A (p.Gly662Glu)
c.3080G>A (p.Gly1027Glu)
c.2795G>A (p.Gly932Glu)
c.1262G>A (p.Gly421Glu)
n.2025G>A
gnomAD v4
17g.63496941G>CCA400567611ACEc.3647G>C (p.Gly1216Ala)
c.1925G>C (p.Gly642Ala)
c.1802G>C (p.Gly601Ala)
n.657G>C
c.*1402G>C (n.*1402G>C)
c.*1376G>C (n.*1376G>C)
c.334G>C
n.521G>C
c.3098G>C (p.Gly1033Ala)
c.1985G>C (p.Gly662Ala)
c.3080G>C (p.Gly1027Ala)
c.2795G>C (p.Gly932Ala)
c.1262G>C (p.Gly421Ala)
n.2025G>C
17g.63496941G>TCA400567615ACEc.3647G>T (p.Gly1216Val)
c.1925G>T (p.Gly642Val)
c.1802G>T (p.Gly601Val)
n.657G>T
c.*1402G>T (n.*1402G>T)
c.*1376G>T (n.*1376G>T)
c.334G>T
n.521G>T
c.3098G>T (p.Gly1033Val)
c.1985G>T (p.Gly662Val)
c.3080G>T (p.Gly1027Val)
c.2795G>T (p.Gly932Val)
c.1262G>T (p.Gly421Val)
n.2025G>T
17g.63496942G>ACA501342446ACEc.3648G>A (p.Gly1216=)
c.1926G>A (p.Gly642=)
c.1803G>A (p.Gly601=)
n.658G>A
c.*1403G>A (n.*1403G>A)
c.*1377G>A (n.*1377G>A)
c.335G>A
n.522G>A
c.3099G>A (p.Gly1033=)
c.1986G>A (p.Gly662=)
c.3081G>A (p.Gly1027=)
c.2796G>A (p.Gly932=)
c.1263G>A (p.Gly421=)
n.2026G>A
gnomAD v4 COSMIC COSMIC COSMIC
17g.63496942G>CCA501342447ACEc.3648G>C (p.Gly1216=)
c.1926G>C (p.Gly642=)
c.1803G>C (p.Gly601=)
n.658G>C
c.*1403G>C (n.*1403G>C)
c.*1377G>C (n.*1377G>C)
c.335G>C
n.522G>C
c.3099G>C (p.Gly1033=)
c.1986G>C (p.Gly662=)
c.3081G>C (p.Gly1027=)
c.2796G>C (p.Gly932=)
c.1263G>C (p.Gly421=)
n.2026G>C
17g.63496942G>TCA501342448ACEc.3648G>T (p.Gly1216=)
c.1926G>T (p.Gly642=)
c.1803G>T (p.Gly601=)
n.658G>T
c.*1403G>T (n.*1403G>T)
c.*1377G>T (n.*1377G>T)
c.335G>T
n.522G>T
c.3099G>T (p.Gly1033=)
c.1986G>T (p.Gly662=)
c.3081G>T (p.Gly1027=)
c.2796G>T (p.Gly932=)
c.1263G>T (p.Gly421=)
n.2026G>T
17g.63496943G>ACA400567622ACEc.3649G>A (p.Glu1217Lys)
c.1927G>A (p.Glu643Lys)
c.1804G>A (p.Glu602Lys)
n.659G>A
c.*1404G>A (n.*1404G>A)
c.*1378G>A (n.*1378G>A)
c.336G>A
n.523G>A
c.3100G>A (p.Glu1034Lys)
c.1987G>A (p.Glu663Lys)
c.3082G>A (p.Glu1028Lys)
c.2797G>A (p.Glu933Lys)
c.1264G>A (p.Glu422Lys)
n.2027G>A
17g.63496943G>CCA400567625ACEc.3649G>C (p.Glu1217Gln)
c.1927G>C (p.Glu643Gln)
c.1804G>C (p.Glu602Gln)
n.659G>C
c.*1404G>C (n.*1404G>C)
c.*1378G>C (n.*1378G>C)
c.336G>C
n.523G>C
c.3100G>C (p.Glu1034Gln)
c.1987G>C (p.Glu663Gln)
c.3082G>C (p.Glu1028Gln)
c.2797G>C (p.Glu933Gln)
c.1264G>C (p.Glu422Gln)
n.2027G>C
17g.63496943G=CA2269949823ACEc.3649G= (p.Glu1217=)
c.1927G= (p.Glu643=)
c.1804G= (p.Glu602=)
n.659G=
c.*1404G= (n.*1404G=)
c.*1378G= (n.*1378G=)
c.336G=
n.523G=
c.3100G= (p.Glu1034=)
c.1987G= (p.Glu663=)
c.3082G= (p.Glu1028=)
c.2797G= (p.Glu933=)
c.1264G= (p.Glu422=)
n.2027G=
17g.63496943G>TCA8700577ACEc.3649G>T (p.Glu1217Ter)
c.1927G>T (p.Glu643Ter)
c.1804G>T (p.Glu602Ter)
n.659G>T
c.*1404G>T (n.*1404G>T)
c.*1378G>T (n.*1378G>T)
c.336G>T
n.523G>T
c.3100G>T (p.Glu1034Ter)
c.1987G>T (p.Glu663Ter)
c.3082G>T (p.Glu1028Ter)
c.2797G>T (p.Glu933Ter)
c.1264G>T (p.Glu422Ter)
n.2027G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496944A>CCA400567628ACEc.3650A>C (p.Glu1217Ala)
c.1928A>C (p.Glu643Ala)
c.1805A>C (p.Glu602Ala)
n.660A>C
c.*1405A>C (n.*1405A>C)
c.*1379A>C (n.*1379A>C)
c.337A>C
n.524A>C
c.3101A>C (p.Glu1034Ala)
c.1988A>C (p.Glu663Ala)
c.3083A>C (p.Glu1028Ala)
c.2798A>C (p.Glu933Ala)
c.1265A>C (p.Glu422Ala)
n.2028A>C
17g.63496944A>GCA400567629ACEc.3650A>G (p.Glu1217Gly)
c.1928A>G (p.Glu643Gly)
c.1805A>G (p.Glu602Gly)
n.660A>G
c.*1405A>G (n.*1405A>G)
c.*1379A>G (n.*1379A>G)
c.337A>G
n.524A>G
c.3101A>G (p.Glu1034Gly)
c.1988A>G (p.Glu663Gly)
c.3083A>G (p.Glu1028Gly)
c.2798A>G (p.Glu933Gly)
c.1265A>G (p.Glu422Gly)
n.2028A>G
17g.63496944A>TCA400567631ACEc.3650A>T (p.Glu1217Val)
c.1928A>T (p.Glu643Val)
c.1805A>T (p.Glu602Val)
n.660A>T
c.*1405A>T (n.*1405A>T)
c.*1379A>T (n.*1379A>T)
c.337A>T
n.524A>T
c.3101A>T (p.Glu1034Val)
c.1988A>T (p.Glu663Val)
c.3083A>T (p.Glu1028Val)
c.2798A>T (p.Glu933Val)
c.1265A>T (p.Glu422Val)
n.2028A>T
17g.63496945G>ACA501342449ACEc.3651G>A (p.Glu1217=)
c.1929G>A (p.Glu643=)
c.1806G>A (p.Glu602=)
n.661G>A
c.*1406G>A (n.*1406G>A)
c.*1380G>A (n.*1380G>A)
c.338G>A
n.525G>A
c.3102G>A (p.Glu1034=)
c.1989G>A (p.Glu663=)
c.3084G>A (p.Glu1028=)
c.2799G>A (p.Glu933=)
c.1266G>A (p.Glu422=)
n.2029G>A
17g.63496945G>CCA400567634ACEc.3651G>C (p.Glu1217Asp)
c.1929G>C (p.Glu643Asp)
c.1806G>C (p.Glu602Asp)
n.661G>C
c.*1406G>C (n.*1406G>C)
c.*1380G>C (n.*1380G>C)
c.338G>C
n.525G>C
c.3102G>C (p.Glu1034Asp)
c.1989G>C (p.Glu663Asp)
c.3084G>C (p.Glu1028Asp)
c.2799G>C (p.Glu933Asp)
c.1266G>C (p.Glu422Asp)
n.2029G>C
17g.63496945G=CA2269949824ACEc.3651G= (p.Glu1217=)
c.1929G= (p.Glu643=)
c.1806G= (p.Glu602=)
n.661G=
c.*1406G= (n.*1406G=)
c.*1380G= (n.*1380G=)
c.338G=
n.525G=
c.3102G= (p.Glu1034=)
c.1989G= (p.Glu663=)
c.3084G= (p.Glu1028=)
c.2799G= (p.Glu933=)
c.1266G= (p.Glu422=)
n.2029G=
17g.63496945G>TCA400567637ACEc.3651G>T (p.Glu1217Asp)
c.1929G>T (p.Glu643Asp)
c.1806G>T (p.Glu602Asp)
n.661G>T
c.*1406G>T (n.*1406G>T)
c.*1380G>T (n.*1380G>T)
c.338G>T
n.525G>T
c.3102G>T (p.Glu1034Asp)
c.1989G>T (p.Glu663Asp)
c.3084G>T (p.Glu1028Asp)
c.2799G>T (p.Glu933Asp)
c.1266G>T (p.Glu422Asp)
n.2029G>T
dbSNP gnomAD v2 gnomAD v4
17g.63496946A=CA2269949825ACEc.3652A= (p.Lys1218=)
c.1930A= (p.Lys644=)
c.1807A= (p.Lys603=)
n.662A=
c.*1407A= (n.*1407A=)
c.*1381A= (n.*1381A=)
c.339A=
n.526A=
c.3103A= (p.Lys1035=)
c.1990A= (p.Lys664=)
c.3085A= (p.Lys1029=)
c.2800A= (p.Lys934=)
c.1267A= (p.Lys423=)
n.2030A=
17g.63496946A>CCA400567639ACEc.3652A>C (p.Lys1218Gln)
c.1930A>C (p.Lys644Gln)
c.1807A>C (p.Lys603Gln)
n.662A>C
c.*1407A>C (n.*1407A>C)
c.*1381A>C (n.*1381A>C)
c.339A>C
n.526A>C
c.3103A>C (p.Lys1035Gln)
c.1990A>C (p.Lys664Gln)
c.3085A>C (p.Lys1029Gln)
c.2800A>C (p.Lys934Gln)
c.1267A>C (p.Lys423Gln)
n.2030A>C
dbSNP
17g.63496946A>GCA400567641ACEc.3652A>G (p.Lys1218Glu)
c.1930A>G (p.Lys644Glu)
c.1807A>G (p.Lys603Glu)
n.662A>G
c.*1407A>G (n.*1407A>G)
c.*1381A>G (n.*1381A>G)
c.339A>G
n.526A>G
c.3103A>G (p.Lys1035Glu)
c.1990A>G (p.Lys664Glu)
c.3085A>G (p.Lys1029Glu)
c.2800A>G (p.Lys934Glu)
c.1267A>G (p.Lys423Glu)
n.2030A>G
17g.63496946A>TCA400567643ACEc.3652A>T (p.Lys1218Ter)
c.1930A>T (p.Lys644Ter)
c.1807A>T (p.Lys603Ter)
n.662A>T
c.*1407A>T (n.*1407A>T)
c.*1381A>T (n.*1381A>T)
c.339A>T
n.526A>T
c.3103A>T (p.Lys1035Ter)
c.1990A>T (p.Lys664Ter)
c.3085A>T (p.Lys1029Ter)
c.2800A>T (p.Lys934Ter)
c.1267A>T (p.Lys423Ter)
n.2030A>T
17g.63496947A=CA2269949826ACEc.3653A= (p.Lys1218=)
c.1931A= (p.Lys644=)
c.1808A= (p.Lys603=)
n.663A=
c.*1408A= (n.*1408A=)
c.*1382A= (n.*1382A=)
c.340A=
n.527A=
c.3104A= (p.Lys1035=)
c.1991A= (p.Lys664=)
c.3086A= (p.Lys1029=)
c.2801A= (p.Lys934=)
c.1268A= (p.Lys423=)
n.2031A=
17g.63496947A>CCA400567653ACEc.3653A>C (p.Lys1218Thr)
c.1931A>C (p.Lys644Thr)
c.1808A>C (p.Lys603Thr)
n.663A>C
c.*1408A>C (n.*1408A>C)
c.*1382A>C (n.*1382A>C)
c.340A>C
n.527A>C
c.3104A>C (p.Lys1035Thr)
c.1991A>C (p.Lys664Thr)
c.3086A>C (p.Lys1029Thr)
c.2801A>C (p.Lys934Thr)
c.1268A>C (p.Lys423Thr)
n.2031A>C
gnomAD v4
17g.63496947A>GCA400567650ACEc.3653A>G (p.Lys1218Arg)
c.1931A>G (p.Lys644Arg)
c.1808A>G (p.Lys603Arg)
n.663A>G
c.*1408A>G (n.*1408A>G)
c.*1382A>G (n.*1382A>G)
c.340A>G
n.527A>G
c.3104A>G (p.Lys1035Arg)
c.1991A>G (p.Lys664Arg)
c.3086A>G (p.Lys1029Arg)
c.2801A>G (p.Lys934Arg)
c.1268A>G (p.Lys423Arg)
n.2031A>G
dbSNP
17g.63496947A>TCA400567646ACEc.3653A>T (p.Lys1218Met)
c.1931A>T (p.Lys644Met)
c.1808A>T (p.Lys603Met)
n.663A>T
c.*1408A>T (n.*1408A>T)
c.*1382A>T (n.*1382A>T)
c.340A>T
n.527A>T
c.3104A>T (p.Lys1035Met)
c.1991A>T (p.Lys664Met)
c.3086A>T (p.Lys1029Met)
c.2801A>T (p.Lys934Met)
c.1268A>T (p.Lys423Met)
n.2031A>T
17g.63496948G>ACA501342450ACEc.3654G>A (p.Lys1218=)
c.1932G>A (p.Lys644=)
c.1809G>A (p.Lys603=)
n.664G>A
c.*1409G>A (n.*1409G>A)
c.*1383G>A (n.*1383G>A)
c.341G>A
n.528G>A
c.3105G>A (p.Lys1035=)
c.1992G>A (p.Lys664=)
c.3087G>A (p.Lys1029=)
c.2802G>A (p.Lys934=)
c.1269G>A (p.Lys423=)
n.2032G>A
gnomAD v4
17g.63496948G>CCA400567655ACEc.3654G>C (p.Lys1218Asn)
c.1932G>C (p.Lys644Asn)
c.1809G>C (p.Lys603Asn)
n.664G>C
c.*1409G>C (n.*1409G>C)
c.*1383G>C (n.*1383G>C)
c.341G>C
n.528G>C
c.3105G>C (p.Lys1035Asn)
c.1992G>C (p.Lys664Asn)
c.3087G>C (p.Lys1029Asn)
c.2802G>C (p.Lys934Asn)
c.1269G>C (p.Lys423Asn)
n.2032G>C
17g.63496948G>TCA400567658ACEc.3654G>T (p.Lys1218Asn)
c.1932G>T (p.Lys644Asn)
c.1809G>T (p.Lys603Asn)
n.664G>T
c.*1409G>T (n.*1409G>T)
c.*1383G>T (n.*1383G>T)
c.341G>T
n.528G>T
c.3105G>T (p.Lys1035Asn)
c.1992G>T (p.Lys664Asn)
c.3087G>T (p.Lys1029Asn)
c.2802G>T (p.Lys934Asn)
c.1269G>T (p.Lys423Asn)
n.2032G>T
17g.63496949C>ACA400567660ACEc.3655C>A (p.Leu1219Met)
c.1933C>A (p.Leu645Met)
c.1810C>A (p.Leu604Met)
n.665C>A
c.*1410C>A (n.*1410C>A)
c.*1384C>A (n.*1384C>A)
c.342C>A
n.529C>A
c.3106C>A (p.Leu1036Met)
c.1993C>A (p.Leu665Met)
c.3088C>A (p.Leu1030Met)
c.2803C>A (p.Leu935Met)
c.1270C>A (p.Leu424Met)
n.2033C>A
17g.63496949C>GCA400567662ACEc.3655C>G (p.Leu1219Val)
c.1933C>G (p.Leu645Val)
c.1810C>G (p.Leu604Val)
n.665C>G
c.*1410C>G (n.*1410C>G)
c.*1384C>G (n.*1384C>G)
c.342C>G
n.529C>G
c.3106C>G (p.Leu1036Val)
c.1993C>G (p.Leu665Val)
c.3088C>G (p.Leu1030Val)
c.2803C>G (p.Leu935Val)
c.1270C>G (p.Leu424Val)
n.2033C>G
17g.63496949C>TCA501342451ACEc.3655C>T (p.Leu1219=)
c.1933C>T (p.Leu645=)
c.1810C>T (p.Leu604=)
n.665C>T
c.*1410C>T (n.*1410C>T)
c.*1384C>T (n.*1384C>T)
c.342C>T
n.529C>T
c.3106C>T (p.Leu1036=)
c.1993C>T (p.Leu665=)
c.3088C>T (p.Leu1030=)
c.2803C>T (p.Leu935=)
c.1270C>T (p.Leu424=)
n.2033C>T
17g.63496950T>ACA400567667ACEc.3656T>A (p.Leu1219Gln)
c.1934T>A (p.Leu645Gln)
c.1811T>A (p.Leu604Gln)
n.666T>A
c.*1411T>A (n.*1411T>A)
c.*1385T>A (n.*1385T>A)
c.343T>A
n.530T>A
c.3107T>A (p.Leu1036Gln)
c.1994T>A (p.Leu665Gln)
c.3089T>A (p.Leu1030Gln)
c.2804T>A (p.Leu935Gln)
c.1271T>A (p.Leu424Gln)
n.2034T>A
17g.63496950T>CCA8700578ACEc.3656T>C (p.Leu1219Pro)
c.1934T>C (p.Leu645Pro)
c.1811T>C (p.Leu604Pro)
n.666T>C
c.*1411T>C (n.*1411T>C)
c.*1385T>C (n.*1385T>C)
c.343T>C
n.530T>C
c.3107T>C (p.Leu1036Pro)
c.1994T>C (p.Leu665Pro)
c.3089T>C (p.Leu1030Pro)
c.2804T>C (p.Leu935Pro)
c.1271T>C (p.Leu424Pro)
n.2034T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496950T>GCA400567673ACEc.3656T>G (p.Leu1219Arg)
c.1934T>G (p.Leu645Arg)
c.1811T>G (p.Leu604Arg)
n.666T>G
c.*1411T>G (n.*1411T>G)
c.*1385T>G (n.*1385T>G)
c.343T>G
n.530T>G
c.3107T>G (p.Leu1036Arg)
c.1994T>G (p.Leu665Arg)
c.3089T>G (p.Leu1030Arg)
c.2804T>G (p.Leu935Arg)
c.1271T>G (p.Leu424Arg)
n.2034T>G
17g.63496950T=CA2269949827ACEc.3656T= (p.Leu1219=)
c.1934T= (p.Leu645=)
c.1811T= (p.Leu604=)
n.666T=
c.*1411T= (n.*1411T=)
c.*1385T= (n.*1385T=)
c.343T=
n.530T=
c.3107T= (p.Leu1036=)
c.1994T= (p.Leu665=)
c.3089T= (p.Leu1030=)
c.2804T= (p.Leu935=)
c.1271T= (p.Leu424=)
n.2034T=
17g.63496951G>ACA8700579ACEc.3657G>A (p.Leu1219=)
c.1935G>A (p.Leu645=)
c.1812G>A (p.Leu604=)
n.667G>A
c.*1412G>A (n.*1412G>A)
c.*1386G>A (n.*1386G>A)
c.344G>A
n.531G>A
c.3108G>A (p.Leu1036=)
c.1995G>A (p.Leu665=)
c.3090G>A (p.Leu1030=)
c.2805G>A (p.Leu935=)
c.1272G>A (p.Leu424=)
n.2035G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496951G>CCA501342452ACEc.3657G>C (p.Leu1219=)
c.1935G>C (p.Leu645=)
c.1812G>C (p.Leu604=)
n.667G>C
c.*1412G>C (n.*1412G>C)
c.*1386G>C (n.*1386G>C)
c.344G>C
n.531G>C
c.3108G>C (p.Leu1036=)
c.1995G>C (p.Leu665=)
c.3090G>C (p.Leu1030=)
c.2805G>C (p.Leu935=)
c.1272G>C (p.Leu424=)
n.2035G>C
17g.63496951G=CA2269949828ACEc.3657G= (p.Leu1219=)
c.1935G= (p.Leu645=)
c.1812G= (p.Leu604=)
n.667G=
c.*1412G= (n.*1412G=)
c.*1386G= (n.*1386G=)
c.344G=
n.531G=
c.3108G= (p.Leu1036=)
c.1995G= (p.Leu665=)
c.3090G= (p.Leu1030=)
c.2805G= (p.Leu935=)
c.1272G= (p.Leu424=)
n.2035G=
17g.63496951G>TCA501342453ACEc.3657G>T (p.Leu1219=)
c.1935G>T (p.Leu645=)
c.1812G>T (p.Leu604=)
n.667G>T
c.*1412G>T (n.*1412G>T)
c.*1386G>T (n.*1386G>T)
c.344G>T
n.531G>T
c.3108G>T (p.Leu1036=)
c.1995G>T (p.Leu665=)
c.3090G>T (p.Leu1030=)
c.2805G>T (p.Leu935=)
c.1272G>T (p.Leu424=)
n.2035G>T
17g.63496952G>ACA400567678ACEc.3658G>A (p.Gly1220Ser)
c.1936G>A (p.Gly646Ser)
c.1813G>A (p.Gly605Ser)
n.668G>A
c.*1413G>A (n.*1413G>A)
c.*1387G>A (n.*1387G>A)
c.345G>A
n.532G>A
c.3109G>A (p.Gly1037Ser)
c.1996G>A (p.Gly666Ser)
c.3091G>A (p.Gly1031Ser)
c.2806G>A (p.Gly936Ser)
c.1273G>A (p.Gly425Ser)
n.2036G>A
dbSNP gnomAD v2 gnomAD v4
17g.63496952G>CCA400567681ACEc.3658G>C (p.Gly1220Arg)
c.1936G>C (p.Gly646Arg)
c.1813G>C (p.Gly605Arg)
n.668G>C
c.*1413G>C (n.*1413G>C)
c.*1387G>C (n.*1387G>C)
c.345G>C
n.532G>C
c.3109G>C (p.Gly1037Arg)
c.1996G>C (p.Gly666Arg)
c.3091G>C (p.Gly1031Arg)
c.2806G>C (p.Gly936Arg)
c.1273G>C (p.Gly425Arg)
n.2036G>C
17g.63496952G=CA2269949829ACEc.3658G= (p.Gly1220=)
c.1936G= (p.Gly646=)
c.1813G= (p.Gly605=)
n.668G=
c.*1413G= (n.*1413G=)
c.*1387G= (n.*1387G=)
c.345G=
n.532G=
c.3109G= (p.Gly1037=)
c.1996G= (p.Gly666=)
c.3091G= (p.Gly1031=)
c.2806G= (p.Gly936=)
c.1273G= (p.Gly425=)
n.2036G=
17g.63496952G>TCA400567684ACEc.3658G>T (p.Gly1220Cys)
c.1936G>T (p.Gly646Cys)
c.1813G>T (p.Gly605Cys)
n.668G>T
c.*1413G>T (n.*1413G>T)
c.*1387G>T (n.*1387G>T)
c.345G>T
n.532G>T
c.3109G>T (p.Gly1037Cys)
c.1996G>T (p.Gly666Cys)
c.3091G>T (p.Gly1031Cys)
c.2806G>T (p.Gly936Cys)
c.1273G>T (p.Gly425Cys)
n.2036G>T
17g.63496953G>ACA400567688ACEc.3659G>A (p.Gly1220Asp)
c.1937G>A (p.Gly646Asp)
c.1814G>A (p.Gly605Asp)
n.669G>A
c.*1414G>A (n.*1414G>A)
c.*1388G>A (n.*1388G>A)
c.346G>A
n.533G>A
c.3110G>A (p.Gly1037Asp)
c.1997G>A (p.Gly666Asp)
c.3092G>A (p.Gly1031Asp)
c.2807G>A (p.Gly936Asp)
c.1274G>A (p.Gly425Asp)
n.2037G>A
17g.63496953G>CCA400567691ACEc.3659G>C (p.Gly1220Ala)
c.1937G>C (p.Gly646Ala)
c.1814G>C (p.Gly605Ala)
n.669G>C
c.*1414G>C (n.*1414G>C)
c.*1388G>C (n.*1388G>C)
c.346G>C
n.533G>C
c.3110G>C (p.Gly1037Ala)
c.1997G>C (p.Gly666Ala)
c.3092G>C (p.Gly1031Ala)
c.2807G>C (p.Gly936Ala)
c.1274G>C (p.Gly425Ala)
n.2037G>C
17g.63496953G>TCA400567694ACEc.3659G>T (p.Gly1220Val)
c.1937G>T (p.Gly646Val)
c.1814G>T (p.Gly605Val)
n.669G>T
c.*1414G>T (n.*1414G>T)
c.*1388G>T (n.*1388G>T)
c.346G>T
n.533G>T
c.3110G>T (p.Gly1037Val)
c.1997G>T (p.Gly666Val)
c.3092G>T (p.Gly1031Val)
c.2807G>T (p.Gly936Val)
c.1274G>T (p.Gly425Val)
n.2037G>T
17g.63496954C>ACA501342454ACEc.3660C>A (p.Gly1220=)
c.1938C>A (p.Gly646=)
c.1815C>A (p.Gly605=)
n.670C>A
c.*1415C>A (n.*1415C>A)
c.*1389C>A (n.*1389C>A)
c.347C>A
n.534C>A
c.3111C>A (p.Gly1037=)
c.1998C>A (p.Gly666=)
c.3093C>A (p.Gly1031=)
c.2808C>A (p.Gly936=)
c.1275C>A (p.Gly425=)
n.2038C>A
17g.63496954C=CA2269949830ACEc.3660C= (p.Gly1220=)
c.1938C= (p.Gly646=)
c.1815C= (p.Gly605=)
n.670C=
c.*1415C= (n.*1415C=)
c.*1389C= (n.*1389C=)
c.347C=
n.534C=
c.3111C= (p.Gly1037=)
c.1998C= (p.Gly666=)
c.3093C= (p.Gly1031=)
c.2808C= (p.Gly936=)
c.1275C= (p.Gly425=)
n.2038C=
17g.63496954C>GCA501342456ACEc.3660C>G (p.Gly1220=)
c.1938C>G (p.Gly646=)
c.1815C>G (p.Gly605=)
n.670C>G
c.*1415C>G (n.*1415C>G)
c.*1389C>G (n.*1389C>G)
c.347C>G
n.534C>G
c.3111C>G (p.Gly1037=)
c.1998C>G (p.Gly666=)
c.3093C>G (p.Gly1031=)
c.2808C>G (p.Gly936=)
c.1275C>G (p.Gly425=)
n.2038C>G
17g.63496954C>TCA501342455ACEc.3660C>T (p.Gly1220=)
c.1938C>T (p.Gly646=)
c.1815C>T (p.Gly605=)
n.670C>T
c.*1415C>T (n.*1415C>T)
c.*1389C>T (n.*1389C>T)
c.347C>T
n.534C>T
c.3111C>T (p.Gly1037=)
c.1998C>T (p.Gly666=)
c.3093C>T (p.Gly1031=)
c.2808C>T (p.Gly936=)
c.1275C>T (p.Gly425=)
n.2038C>T
dbSNP gnomAD v2 gnomAD v4
17g.63496955T>ACA400567707ACEc.3661T>A (p.Trp1221Arg)
c.1939T>A (p.Trp647Arg)
c.1816T>A (p.Trp606Arg)
n.671T>A
c.*1416T>A (n.*1416T>A)
c.*1390T>A (n.*1390T>A)
c.348T>A
n.535T>A
c.3112T>A (p.Trp1038Arg)
c.1999T>A (p.Trp667Arg)
c.3094T>A (p.Trp1032Arg)
c.2809T>A (p.Trp937Arg)
c.1276T>A (p.Trp426Arg)
n.2039T>A
17g.63496955T>CCA400567698ACEc.3661T>C (p.Trp1221Arg)
c.1939T>C (p.Trp647Arg)
c.1816T>C (p.Trp606Arg)
n.671T>C
c.*1416T>C (n.*1416T>C)
c.*1390T>C (n.*1390T>C)
c.348T>C
n.535T>C
c.3112T>C (p.Trp1038Arg)
c.1999T>C (p.Trp667Arg)
c.3094T>C (p.Trp1032Arg)
c.2809T>C (p.Trp937Arg)
c.1276T>C (p.Trp426Arg)
n.2039T>C
17g.63496955T>GCA400567703ACEc.3661T>G (p.Trp1221Gly)
c.1939T>G (p.Trp647Gly)
c.1816T>G (p.Trp606Gly)
n.671T>G
c.*1416T>G (n.*1416T>G)
c.*1390T>G (n.*1390T>G)
c.348T>G
n.535T>G
c.3112T>G (p.Trp1038Gly)
c.1999T>G (p.Trp667Gly)
c.3094T>G (p.Trp1032Gly)
c.2809T>G (p.Trp937Gly)
c.1276T>G (p.Trp426Gly)
n.2039T>G
17g.63496956G>ACA400567710ACEc.3662G>A (p.Trp1221Ter)
c.1940G>A (p.Trp647Ter)
c.1817G>A (p.Trp606Ter)
n.672G>A
c.*1417G>A (n.*1417G>A)
c.*1391G>A (n.*1391G>A)
c.349G>A
n.536G>A
c.3113G>A (p.Trp1038Ter)
c.2000G>A (p.Trp667Ter)
c.3095G>A (p.Trp1032Ter)
c.2810G>A (p.Trp937Ter)
c.1277G>A (p.Trp426Ter)
n.2040G>A
17g.63496956G>CCA400567712ACEc.3662G>C (p.Trp1221Ser)
c.1940G>C (p.Trp647Ser)
c.1817G>C (p.Trp606Ser)
n.672G>C
c.*1417G>C (n.*1417G>C)
c.*1391G>C (n.*1391G>C)
c.349G>C
n.536G>C
c.3113G>C (p.Trp1038Ser)
c.2000G>C (p.Trp667Ser)
c.3095G>C (p.Trp1032Ser)
c.2810G>C (p.Trp937Ser)
c.1277G>C (p.Trp426Ser)
n.2040G>C
17g.63496956G>TCA400567714ACEc.3662G>T (p.Trp1221Leu)
c.1940G>T (p.Trp647Leu)
c.1817G>T (p.Trp606Leu)
n.672G>T
c.*1417G>T (n.*1417G>T)
c.*1391G>T (n.*1391G>T)
c.349G>T
n.536G>T
c.3113G>T (p.Trp1038Leu)
c.2000G>T (p.Trp667Leu)
c.3095G>T (p.Trp1032Leu)
c.2810G>T (p.Trp937Leu)
c.1277G>T (p.Trp426Leu)
n.2040G>T
17g.63496957G>ACA400567719ACEc.3663G>A (p.Trp1221Ter)
c.1941G>A (p.Trp647Ter)
c.1818G>A (p.Trp606Ter)
n.673G>A
c.*1418G>A (n.*1418G>A)
c.*1392G>A (n.*1392G>A)
c.350G>A
n.537G>A
c.3114G>A (p.Trp1038Ter)
c.2001G>A (p.Trp667Ter)
c.3096G>A (p.Trp1032Ter)
c.2811G>A (p.Trp937Ter)
c.1278G>A (p.Trp426Ter)
n.2041G>A
gnomAD v4
17g.63496957G>CCA400567722ACEc.3663G>C (p.Trp1221Cys)
c.1941G>C (p.Trp647Cys)
c.1818G>C (p.Trp606Cys)
n.673G>C
c.*1418G>C (n.*1418G>C)
c.*1392G>C (n.*1392G>C)
c.350G>C
n.537G>C
c.3114G>C (p.Trp1038Cys)
c.2001G>C (p.Trp667Cys)
c.3096G>C (p.Trp1032Cys)
c.2811G>C (p.Trp937Cys)
c.1278G>C (p.Trp426Cys)
n.2041G>C
17g.63496957G=CA2269949831ACEc.3663G= (p.Trp1221=)
c.1941G= (p.Trp647=)
c.1818G= (p.Trp606=)
n.673G=
c.*1418G= (n.*1418G=)
c.*1392G= (n.*1392G=)
c.350G=
n.537G=
c.3114G= (p.Trp1038=)
c.2001G= (p.Trp667=)
c.3096G= (p.Trp1032=)
c.2811G= (p.Trp937=)
c.1278G= (p.Trp426=)
n.2041G=
17g.63496957G>TCA400567723ACEc.3663G>T (p.Trp1221Cys)
c.1941G>T (p.Trp647Cys)
c.1818G>T (p.Trp606Cys)
n.673G>T
c.*1418G>T (n.*1418G>T)
c.*1392G>T (n.*1392G>T)
c.350G>T
n.537G>T
c.3114G>T (p.Trp1038Cys)
c.2001G>T (p.Trp667Cys)
c.3096G>T (p.Trp1032Cys)
c.2811G>T (p.Trp937Cys)
c.1278G>T (p.Trp426Cys)
n.2041G>T
dbSNP
17g.63496958C>ACA400567724ACEc.3664C>A (p.Pro1222Thr)
c.1942C>A (p.Pro648Thr)
c.1819C>A (p.Pro607Thr)
n.674C>A
c.*1419C>A (n.*1419C>A)
c.*1393C>A (n.*1393C>A)
c.351C>A
n.538C>A
c.3115C>A (p.Pro1039Thr)
c.2002C>A (p.Pro668Thr)
c.3097C>A (p.Pro1033Thr)
c.2812C>A (p.Pro938Thr)
c.1279C>A (p.Pro427Thr)
n.2042C>A
17g.63496958C=CA2269949832ACEc.3664C= (p.Pro1222=)
c.1942C= (p.Pro648=)
c.1819C= (p.Pro607=)
n.674C=
c.*1419C= (n.*1419C=)
c.*1393C= (n.*1393C=)
c.351C=
n.538C=
c.3115C= (p.Pro1039=)
c.2002C= (p.Pro668=)
c.3097C= (p.Pro1033=)
c.2812C= (p.Pro938=)
c.1279C= (p.Pro427=)
n.2042C=
17g.63496958C>GCA400567725ACEc.3664C>G (p.Pro1222Ala)
c.1942C>G (p.Pro648Ala)
c.1819C>G (p.Pro607Ala)
n.674C>G
c.*1419C>G (n.*1419C>G)
c.*1393C>G (n.*1393C>G)
c.351C>G
n.538C>G
c.3115C>G (p.Pro1039Ala)
c.2002C>G (p.Pro668Ala)
c.3097C>G (p.Pro1033Ala)
c.2812C>G (p.Pro938Ala)
c.1279C>G (p.Pro427Ala)
n.2042C>G
17g.63496958C>TCA8700580ACEc.3664C>T (p.Pro1222Ser)
c.1942C>T (p.Pro648Ser)
c.1819C>T (p.Pro607Ser)
n.674C>T
c.*1419C>T (n.*1419C>T)
c.*1393C>T (n.*1393C>T)
c.351C>T
n.538C>T
c.3115C>T (p.Pro1039Ser)
c.2002C>T (p.Pro668Ser)
c.3097C>T (p.Pro1033Ser)
c.2812C>T (p.Pro938Ser)
c.1279C>T (p.Pro427Ser)
n.2042C>T
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63496959C>ACA400567729ACEc.3665C>A (p.Pro1222Gln)
c.1943C>A (p.Pro648Gln)
c.1820C>A (p.Pro607Gln)
n.675C>A
c.*1420C>A (n.*1420C>A)
c.*1394C>A (n.*1394C>A)
c.352C>A
n.539C>A
c.3116C>A (p.Pro1039Gln)
c.2003C>A (p.Pro668Gln)
c.3098C>A (p.Pro1033Gln)
c.2813C>A (p.Pro938Gln)
c.1280C>A (p.Pro427Gln)
n.2043C>A
17g.63496959C=CA2269949833ACEc.3665C= (p.Pro1222=)
c.1943C= (p.Pro648=)
c.1820C= (p.Pro607=)
n.675C=
c.*1420C= (n.*1420C=)
c.*1394C= (n.*1394C=)
c.352C=
n.539C=
c.3116C= (p.Pro1039=)
c.2003C= (p.Pro668=)
c.3098C= (p.Pro1033=)
c.2813C= (p.Pro938=)
c.1280C= (p.Pro427=)
n.2043C=
17g.63496959C>GCA400567731ACEc.3665C>G (p.Pro1222Arg)
c.1943C>G (p.Pro648Arg)
c.1820C>G (p.Pro607Arg)
n.675C>G
c.*1420C>G (n.*1420C>G)
c.*1394C>G (n.*1394C>G)
c.352C>G
n.539C>G
c.3116C>G (p.Pro1039Arg)
c.2003C>G (p.Pro668Arg)
c.3098C>G (p.Pro1033Arg)
c.2813C>G (p.Pro938Arg)
c.1280C>G (p.Pro427Arg)
n.2043C>G
17g.63496959C>TCA8700581ACEc.3665C>T (p.Pro1222Leu)
c.1943C>T (p.Pro648Leu)
c.1820C>T (p.Pro607Leu)
n.675C>T
c.*1420C>T (n.*1420C>T)
c.*1394C>T (n.*1394C>T)
c.352C>T
n.539C>T
c.3116C>T (p.Pro1039Leu)
c.2003C>T (p.Pro668Leu)
c.3098C>T (p.Pro1033Leu)
c.2813C>T (p.Pro938Leu)
c.1280C>T (p.Pro427Leu)
n.2043C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496960G>ACA8700583ACEc.3666G>A (p.Pro1222=)
c.1944G>A (p.Pro648=)
c.1821G>A (p.Pro607=)
n.676G>A
c.*1421G>A (n.*1421G>A)
c.*1395G>A (n.*1395G>A)
c.353G>A
n.540G>A
c.3117G>A (p.Pro1039=)
c.2004G>A (p.Pro668=)
c.3099G>A (p.Pro1033=)
c.2814G>A (p.Pro938=)
c.1281G>A (p.Pro427=)
n.2044G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.63496960G>CCA501342457ACEc.3666G>C (p.Pro1222=)
c.1944G>C (p.Pro648=)
c.1821G>C (p.Pro607=)
n.676G>C
c.*1421G>C (n.*1421G>C)
c.*1395G>C (n.*1395G>C)
c.353G>C
n.540G>C
c.3117G>C (p.Pro1039=)
c.2004G>C (p.Pro668=)
c.3099G>C (p.Pro1033=)
c.2814G>C (p.Pro938=)
c.1281G>C (p.Pro427=)
n.2044G>C
17g.63496960G=CA2269949834ACEc.3666G= (p.Pro1222=)
c.1944G= (p.Pro648=)
c.1821G= (p.Pro607=)
n.676G=
c.*1421G= (n.*1421G=)
c.*1395G= (n.*1395G=)
c.353G=
n.540G=
c.3117G= (p.Pro1039=)
c.2004G= (p.Pro668=)
c.3099G= (p.Pro1033=)
c.2814G= (p.Pro938=)
c.1281G= (p.Pro427=)
n.2044G=
17g.63496960G>TCA8700582ACEc.3666G>T (p.Pro1222=)
c.1944G>T (p.Pro648=)
c.1821G>T (p.Pro607=)
n.676G>T
c.*1421G>T (n.*1421G>T)
c.*1395G>T (n.*1395G>T)
c.353G>T
n.540G>T
c.3117G>T (p.Pro1039=)
c.2004G>T (p.Pro668=)
c.3099G>T (p.Pro1033=)
c.2814G>T (p.Pro938=)
c.1281G>T (p.Pro427=)
n.2044G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63496961C>ACA400567741ACEc.3667C>A (p.Gln1223Lys)
c.1945C>A (p.Gln649Lys)
c.1822C>A (p.Gln608Lys)
n.677C>A
c.*1422C>A (n.*1422C>A)
c.*1396C>A (n.*1396C>A)
c.354C>A
n.541C>A
c.3118C>A (p.Gln1040Lys)
c.2005C>A (p.Gln669Lys)
c.3100C>A (p.Gln1034Lys)
c.2815C>A (p.Gln939Lys)
c.1282C>A (p.Gln428Lys)
n.2045C>A
gnomAD v4
17g.63496961C>GCA400567744ACEc.3667C>G (p.Gln1223Glu)
c.1945C>G (p.Gln649Glu)
c.1822C>G (p.Gln608Glu)
n.677C>G
c.*1422C>G (n.*1422C>G)
c.*1396C>G (n.*1396C>G)
c.354C>G
n.541C>G
c.3118C>G (p.Gln1040Glu)
c.2005C>G (p.Gln669Glu)
c.3100C>G (p.Gln1034Glu)
c.2815C>G (p.Gln939Glu)
c.1282C>G (p.Gln428Glu)
n.2045C>G
17g.63496961C>TCA400567747ACEc.3667C>T (p.Gln1223Ter)
c.1945C>T (p.Gln649Ter)
c.1822C>T (p.Gln608Ter)
n.677C>T
c.*1422C>T (n.*1422C>T)
c.*1396C>T (n.*1396C>T)
c.354C>T
n.541C>T
c.3118C>T (p.Gln1040Ter)
c.2005C>T (p.Gln669Ter)
c.3100C>T (p.Gln1034Ter)
c.2815C>T (p.Gln939Ter)
c.1282C>T (p.Gln428Ter)
n.2045C>T
gnomAD v4
17g.63496962A=CA2269949835ACEc.3668A= (p.Gln1223=)
c.1946A= (p.Gln649=)
c.1823A= (p.Gln608=)
n.678A=
c.*1423A= (n.*1423A=)
c.*1397A= (n.*1397A=)
c.355A=
n.542A=
c.3119A= (p.Gln1040=)
c.2006A= (p.Gln669=)
c.3101A= (p.Gln1034=)
c.2816A= (p.Gln939=)
c.1283A= (p.Gln428=)
n.2046A=
17g.63496962A>CCA400567750ACEc.3668A>C (p.Gln1223Pro)
c.1946A>C (p.Gln649Pro)
c.1823A>C (p.Gln608Pro)
n.678A>C
c.*1423A>C (n.*1423A>C)
c.*1397A>C (n.*1397A>C)
c.355A>C
n.542A>C
c.3119A>C (p.Gln1040Pro)
c.2006A>C (p.Gln669Pro)
c.3101A>C (p.Gln1034Pro)
c.2816A>C (p.Gln939Pro)
c.1283A>C (p.Gln428Pro)
n.2046A>C
17g.63496962A>GCA400567753ACEc.3668A>G (p.Gln1223Arg)
c.1946A>G (p.Gln649Arg)
c.1823A>G (p.Gln608Arg)
n.678A>G
c.*1423A>G (n.*1423A>G)
c.*1397A>G (n.*1397A>G)
c.355A>G
n.542A>G
c.3119A>G (p.Gln1040Arg)
c.2006A>G (p.Gln669Arg)
c.3101A>G (p.Gln1034Arg)
c.2816A>G (p.Gln939Arg)
c.1283A>G (p.Gln428Arg)
n.2046A>G
17g.63496962A>TCA400567755ACEc.3668A>T (p.Gln1223Leu)
c.1946A>T (p.Gln649Leu)
c.1823A>T (p.Gln608Leu)
n.678A>T
c.*1423A>T (n.*1423A>T)
c.*1397A>T (n.*1397A>T)
c.355A>T
n.542A>T
c.3119A>T (p.Gln1040Leu)
c.2006A>T (p.Gln669Leu)
c.3101A>T (p.Gln1034Leu)
c.2816A>T (p.Gln939Leu)
c.1283A>T (p.Gln428Leu)
n.2046A>T
dbSNP
17g.63496963G>ACA292890169ACEc.3669G>A (p.Gln1223=)
c.1947G>A (p.Gln649=)
c.1824G>A (p.Gln608=)
n.679G>A
c.*1424G>A (n.*1424G>A)
c.*1398G>A (n.*1398G>A)
c.356G>A
n.543G>A
c.3120G>A (p.Gln1040=)
c.2007G>A (p.Gln669=)
c.3102G>A (p.Gln1034=)
c.2817G>A (p.Gln939=)
c.1284G>A (p.Gln428=)
n.2047G>A
dbSNP gnomAD v4
17g.63496963G>CCA400567759ACEc.3669G>C (p.Gln1223His)
c.1947G>C (p.Gln649His)
c.1824G>C (p.Gln608His)
n.679G>C
c.*1424G>C (n.*1424G>C)
c.*1398G>C (n.*1398G>C)
c.356G>C
n.543G>C
c.3120G>C (p.Gln1040His)
c.2007G>C (p.Gln669His)
c.3102G>C (p.Gln1034His)
c.2817G>C (p.Gln939His)
c.1284G>C (p.Gln428His)
n.2047G>C
17g.63496963G=CA2269949836ACEc.3669G= (p.Gln1223=)
c.1947G= (p.Gln649=)
c.1824G= (p.Gln608=)
n.679G=
c.*1424G= (n.*1424G=)
c.*1398G= (n.*1398G=)
c.356G=
n.543G=
c.3120G= (p.Gln1040=)
c.2007G= (p.Gln669=)
c.3102G= (p.Gln1034=)
c.2817G= (p.Gln939=)
c.1284G= (p.Gln428=)
n.2047G=
17g.63496963G>TCA400567762ACEc.3669G>T (p.Gln1223His)
c.1947G>T (p.Gln649His)
c.1824G>T (p.Gln608His)
n.679G>T
c.*1424G>T (n.*1424G>T)
c.*1398G>T (n.*1398G>T)
c.356G>T
n.543G>T
c.3120G>T (p.Gln1040His)
c.2007G>T (p.Gln669His)
c.3102G>T (p.Gln1034His)
c.2817G>T (p.Gln939His)
c.1284G>T (p.Gln428His)
n.2047G>T

Number of alleles fetched