Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.68885441G>ACA376881495STOX1c.1645G>A (p.Glu549Lys)
c.1981G>A (p.Glu661Lys)
c.463+3331G>A (n.463+3331G>A)
c.663+982G>A (n.663+982G>A)
c.1315G>A (p.Glu439Lys)
10g.68885441G>CCA208268041STOX1c.1645G>C (p.Glu549Gln)
c.1981G>C (p.Glu661Gln)
c.463+3331G>C (n.463+3331G>C)
c.663+982G>C (n.663+982G>C)
c.1315G>C (p.Glu439Gln)
 dbSNP gnomAD v3 gnomAD v4
10g.68885441G=CA1917549990STOX1c.1645G= (p.Glu549=)
c.1981G= (p.Glu661=)
c.463+3331G= (n.463+3331G=)
c.663+982G= (n.663+982G=)
c.1315G= (p.Glu439=)
10g.68885441G>TCA376881496STOX1c.1645G>T (p.Glu549Ter)
c.1981G>T (p.Glu661Ter)
c.463+3331G>T (n.463+3331G>T)
c.663+982G>T (n.663+982G>T)
c.1315G>T (p.Glu439Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.68885442A>CCA376881497STOX1c.1646A>C (p.Glu549Ala)
c.1982A>C (p.Glu661Ala)
c.463+3332A>C (n.463+3332A>C)
c.663+983A>C (n.663+983A>C)
c.1316A>C (p.Glu439Ala)
10g.68885442A>GCA376881498STOX1c.1646A>G (p.Glu549Gly)
c.1982A>G (p.Glu661Gly)
c.463+3332A>G (n.463+3332A>G)
c.663+983A>G (n.663+983A>G)
c.1316A>G (p.Glu439Gly)
 gnomAD v4
10g.68885442A>TCA376881499STOX1c.1646A>T (p.Glu549Val)
c.1982A>T (p.Glu661Val)
c.463+3332A>T (n.463+3332A>T)
c.663+983A>T (n.663+983A>T)
c.1316A>T (p.Glu439Val)
10g.68885443G>ACA470274533STOX1c.1647G>A (p.Glu549=)
c.1983G>A (p.Glu661=)
c.463+3333G>A (n.463+3333G>A)
c.663+984G>A (n.663+984G>A)
c.1317G>A (p.Glu439=)
 dbSNP gnomAD v4
10g.68885443G>CCA376881501STOX1c.1647G>C (p.Glu549Asp)
c.1983G>C (p.Glu661Asp)
c.463+3333G>C (n.463+3333G>C)
c.663+984G>C (n.663+984G>C)
c.1317G>C (p.Glu439Asp)
10g.68885443G=CA1917549991STOX1c.1647G= (p.Glu549=)
c.1983G= (p.Glu661=)
c.463+3333G= (n.463+3333G=)
c.663+984G= (n.663+984G=)
c.1317G= (p.Glu439=)
10g.68885443G>TCA376881500STOX1c.1647G>T (p.Glu549Asp)
c.1983G>T (p.Glu661Asp)
c.463+3333G>T (n.463+3333G>T)
c.663+984G>T (n.663+984G>T)
c.1317G>T (p.Glu439Asp)
10g.68885444C>ACA376881502STOX1c.1648C>A (p.Pro550Thr)
c.1984C>A (p.Pro662Thr)
c.463+3334C>A (n.463+3334C>A)
c.663+985C>A (n.663+985C>A)
c.1318C>A (p.Pro440Thr)
10g.68885444C>GCA376881503STOX1c.1648C>G (p.Pro550Ala)
c.1984C>G (p.Pro662Ala)
c.463+3334C>G (n.463+3334C>G)
c.663+985C>G (n.663+985C>G)
c.1318C>G (p.Pro440Ala)
10g.68885444C>TCA376881504STOX1c.1648C>T (p.Pro550Ser)
c.1984C>T (p.Pro662Ser)
c.463+3334C>T (n.463+3334C>T)
c.663+985C>T (n.663+985C>T)
c.1318C>T (p.Pro440Ser)
10g.68885445C>ACA376881505STOX1c.1649C>A (p.Pro550Gln)
c.1985C>A (p.Pro662Gln)
c.463+3335C>A (n.463+3335C>A)
c.663+986C>A (n.663+986C>A)
c.1319C>A (p.Pro440Gln)
10g.68885445C=CA1917549992STOX1c.1649C= (p.Pro550=)
c.1985C= (p.Pro662=)
c.463+3335C= (n.463+3335C=)
c.663+986C= (n.663+986C=)
c.1319C= (p.Pro440=)
10g.68885445C>GCA376881506STOX1c.1649C>G (p.Pro550Arg)
c.1985C>G (p.Pro662Arg)
c.463+3335C>G (n.463+3335C>G)
c.663+986C>G (n.663+986C>G)
c.1319C>G (p.Pro440Arg)
10g.68885445C>TCA5528207STOX1c.1649C>T (p.Pro550Leu)
c.1985C>T (p.Pro662Leu)
c.463+3335C>T (n.463+3335C>T)
c.663+986C>T (n.663+986C>T)
c.1319C>T (p.Pro440Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885445_68885447delinsCATCA1917549993STOX1c.1649_1651delinsCAT (p.Pro550=)
c.1985_1987delinsCAT (p.Pro662=)
c.463+3335_463+3337delinsCAT (n.463+3335_463+3337delinsCAT)
c.663+986_663+988delinsCAT (n.663+986_663+988delinsCAT)
c.1319_1321delinsCAT (p.Pro440=)
10g.68885446A>CCA470274535STOX1c.1650A>C (p.Pro550=)
c.1986A>C (p.Pro662=)
c.463+3336A>C (n.463+3336A>C)
c.663+987A>C (n.663+987A>C)
c.1320A>C (p.Pro440=)
10g.68885446A>GCA470274536STOX1c.1650A>G (p.Pro550=)
c.1986A>G (p.Pro662=)
c.463+3336A>G (n.463+3336A>G)
c.663+987A>G (n.663+987A>G)
c.1320A>G (p.Pro440=)
10g.68885446A>TCA470274537STOX1c.1650A>T (p.Pro550=)
c.1986A>T (p.Pro662=)
c.463+3336A>T (n.463+3336A>T)
c.663+987A>T (n.663+987A>T)
c.1320A>T (p.Pro440=)
10g.68885448_68885449delCA594253480STOX1c.1652_1653del (p.Tyr551CysfsTer2)
c.1988_1989del (p.Tyr663CysfsTer2)
c.463+3338_463+3339del (n.463+3338_463+3339del)
c.663+989_663+990del (n.663+989_663+990del)
c.1322_1323del (p.Tyr441CysfsTer2)
 dbSNP gnomAD v2
10g.68885447T>ACA376881507STOX1c.1651T>A (p.Tyr551Asn)
c.1987T>A (p.Tyr663Asn)
c.463+3337T>A (n.463+3337T>A)
c.663+988T>A (n.663+988T>A)
c.1321T>A (p.Tyr441Asn)
10g.68885447T>CCA376881509STOX1c.1651T>C (p.Tyr551His)
c.1987T>C (p.Tyr663His)
c.463+3337T>C (n.463+3337T>C)
c.663+988T>C (n.663+988T>C)
c.1321T>C (p.Tyr441His)
10g.68885447T>GCA376881508STOX1c.1651T>G (p.Tyr551Asp)
c.1987T>G (p.Tyr663Asp)
c.463+3337T>G (n.463+3337T>G)
c.663+988T>G (n.663+988T>G)
c.1321T>G (p.Tyr441Asp)
10g.68885448A>CCA376881510STOX1c.1652A>C (p.Tyr551Ser)
c.1988A>C (p.Tyr663Ser)
c.463+3338A>C (n.463+3338A>C)
c.663+989A>C (n.663+989A>C)
c.1322A>C (p.Tyr441Ser)
10g.68885448A>GCA376881511STOX1c.1652A>G (p.Tyr551Cys)
c.1988A>G (p.Tyr663Cys)
c.463+3338A>G (n.463+3338A>G)
c.663+989A>G (n.663+989A>G)
c.1322A>G (p.Tyr441Cys)
10g.68885448A>TCA376881512STOX1c.1652A>T (p.Tyr551Phe)
c.1988A>T (p.Tyr663Phe)
c.463+3338A>T (n.463+3338A>T)
c.663+989A>T (n.663+989A>T)
c.1322A>T (p.Tyr441Phe)
10g.68885449T>ACA376881513STOX1c.1653T>A (p.Tyr551Ter)
c.1989T>A (p.Tyr663Ter)
c.463+3339T>A (n.463+3339T>A)
c.663+990T>A (n.663+990T>A)
c.1323T>A (p.Tyr441Ter)
10g.68885449T>CCA470274541STOX1c.1653T>C (p.Tyr551=)
c.1989T>C (p.Tyr663=)
c.463+3339T>C (n.463+3339T>C)
c.663+990T>C (n.663+990T>C)
c.1323T>C (p.Tyr441=)
10g.68885449T>GCA376881514STOX1c.1653T>G (p.Tyr551Ter)
c.1989T>G (p.Tyr663Ter)
c.463+3339T>G (n.463+3339T>G)
c.663+990T>G (n.663+990T>G)
c.1323T>G (p.Tyr441Ter)
10g.68885450G>ACA376881515STOX1c.1654G>A (p.Ala552Thr)
c.1990G>A (p.Ala664Thr)
c.463+3340G>A (n.463+3340G>A)
c.663+991G>A (n.663+991G>A)
c.1324G>A (p.Ala442Thr)
 gnomAD v4
10g.68885450G>CCA376881516STOX1c.1654G>C (p.Ala552Pro)
c.1990G>C (p.Ala664Pro)
c.463+3340G>C (n.463+3340G>C)
c.663+991G>C (n.663+991G>C)
c.1324G>C (p.Ala442Pro)
 gnomAD v4
10g.68885450G>TCA376881517STOX1c.1654G>T (p.Ala552Ser)
c.1990G>T (p.Ala664Ser)
c.463+3340G>T (n.463+3340G>T)
c.663+991G>T (n.663+991G>T)
c.1324G>T (p.Ala442Ser)
10g.68885451C>ACA376881518STOX1c.1655C>A (p.Ala552Asp)
c.1991C>A (p.Ala664Asp)
c.463+3341C>A (n.463+3341C>A)
c.663+992C>A (n.663+992C>A)
c.1325C>A (p.Ala442Asp)
10g.68885451C>GCA376881519STOX1c.1655C>G (p.Ala552Gly)
c.1991C>G (p.Ala664Gly)
c.463+3341C>G (n.463+3341C>G)
c.663+992C>G (n.663+992C>G)
c.1325C>G (p.Ala442Gly)
10g.68885451C>TCA376881520STOX1c.1655C>T (p.Ala552Val)
c.1991C>T (p.Ala664Val)
c.463+3341C>T (n.463+3341C>T)
c.663+992C>T (n.663+992C>T)
c.1325C>T (p.Ala442Val)
10g.68885452T>ACA470274542STOX1c.1656T>A (p.Ala552=)
c.1992T>A (p.Ala664=)
c.463+3342T>A (n.463+3342T>A)
c.663+993T>A (n.663+993T>A)
c.1326T>A (p.Ala442=)
10g.68885452T>CCA5528208STOX1c.1656T>C (p.Ala552=)
c.1992T>C (p.Ala664=)
c.463+3342T>C (n.463+3342T>C)
c.663+993T>C (n.663+993T>C)
c.1326T>C (p.Ala442=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885452T>GCA470274543STOX1c.1656T>G (p.Ala552=)
c.1992T>G (p.Ala664=)
c.463+3342T>G (n.463+3342T>G)
c.663+993T>G (n.663+993T>G)
c.1326T>G (p.Ala442=)
 gnomAD v4
10g.68885452T=CA1917549994STOX1c.1656T= (p.Ala552=)
c.1992T= (p.Ala664=)
c.463+3342T= (n.463+3342T=)
c.663+993T= (n.663+993T=)
c.1326T= (p.Ala442=)
10g.68885453G>ACA376881521STOX1c.1657G>A (p.Glu553Lys)
c.1993G>A (p.Glu665Lys)
c.463+3343G>A (n.463+3343G>A)
c.663+994G>A (n.663+994G>A)
c.1327G>A (p.Glu443Lys)
10g.68885453G>CCA376881523STOX1c.1657G>C (p.Glu553Gln)
c.1993G>C (p.Glu665Gln)
c.463+3343G>C (n.463+3343G>C)
c.663+994G>C (n.663+994G>C)
c.1327G>C (p.Glu443Gln)
10g.68885453G>TCA376881522STOX1c.1657G>T (p.Glu553Ter)
c.1993G>T (p.Glu665Ter)
c.463+3343G>T (n.463+3343G>T)
c.663+994G>T (n.663+994G>T)
c.1327G>T (p.Glu443Ter)
10g.68885454A>CCA376881524STOX1c.1658A>C (p.Glu553Ala)
c.1994A>C (p.Glu665Ala)
c.463+3344A>C (n.463+3344A>C)
c.663+995A>C (n.663+995A>C)
c.1328A>C (p.Glu443Ala)
10g.68885454A>GCA376881525STOX1c.1658A>G (p.Glu553Gly)
c.1994A>G (p.Glu665Gly)
c.463+3344A>G (n.463+3344A>G)
c.663+995A>G (n.663+995A>G)
c.1328A>G (p.Glu443Gly)
10g.68885454A>TCA376881526STOX1c.1658A>T (p.Glu553Val)
c.1994A>T (p.Glu665Val)
c.463+3344A>T (n.463+3344A>T)
c.663+995A>T (n.663+995A>T)
c.1328A>T (p.Glu443Val)
10g.68885455A>CCA376881527STOX1c.1659A>C (p.Glu553Asp)
c.1995A>C (p.Glu665Asp)
c.463+3345A>C (n.463+3345A>C)
c.663+996A>C (n.663+996A>C)
c.1329A>C (p.Glu443Asp)
10g.68885455A>GCA470274546STOX1c.1659A>G (p.Glu553=)
c.1995A>G (p.Glu665=)
c.463+3345A>G (n.463+3345A>G)
c.663+996A>G (n.663+996A>G)
c.1329A>G (p.Glu443=)
10g.68885455A>TCA376881528STOX1c.1659A>T (p.Glu553Asp)
c.1995A>T (p.Glu665Asp)
c.463+3345A>T (n.463+3345A>T)
c.663+996A>T (n.663+996A>T)
c.1329A>T (p.Glu443Asp)
10g.68885456C>ACA376881529STOX1c.1660C>A (p.Gln554Lys)
c.1996C>A (p.Gln666Lys)
c.463+3346C>A (n.463+3346C>A)
c.663+997C>A (n.663+997C>A)
c.1330C>A (p.Gln444Lys)
10g.68885456C>GCA376881530STOX1c.1660C>G (p.Gln554Glu)
c.1996C>G (p.Gln666Glu)
c.463+3346C>G (n.463+3346C>G)
c.663+997C>G (n.663+997C>G)
c.1330C>G (p.Gln444Glu)
10g.68885456C>TCA376881531STOX1c.1660C>T (p.Gln554Ter)
c.1996C>T (p.Gln666Ter)
c.463+3346C>T (n.463+3346C>T)
c.663+997C>T (n.663+997C>T)
c.1330C>T (p.Gln444Ter)
10g.68885457A>CCA376881532STOX1c.1661A>C (p.Gln554Pro)
c.1997A>C (p.Gln666Pro)
c.463+3347A>C (n.463+3347A>C)
c.663+998A>C (n.663+998A>C)
c.1331A>C (p.Gln444Pro)
10g.68885457A>GCA376881533STOX1c.1661A>G (p.Gln554Arg)
c.1997A>G (p.Gln666Arg)
c.463+3347A>G (n.463+3347A>G)
c.663+998A>G (n.663+998A>G)
c.1331A>G (p.Gln444Arg)
10g.68885457A>TCA376881534STOX1c.1661A>T (p.Gln554Leu)
c.1997A>T (p.Gln666Leu)
c.463+3347A>T (n.463+3347A>T)
c.663+998A>T (n.663+998A>T)
c.1331A>T (p.Gln444Leu)
10g.68885458A>CCA376881535STOX1c.1662A>C (p.Gln554His)
c.1998A>C (p.Gln666His)
c.463+3348A>C (n.463+3348A>C)
c.663+999A>C (n.663+999A>C)
c.1332A>C (p.Gln444His)
10g.68885458A>GCA470274548STOX1c.1662A>G (p.Gln554=)
c.1998A>G (p.Gln666=)
c.463+3348A>G (n.463+3348A>G)
c.663+999A>G (n.663+999A>G)
c.1332A>G (p.Gln444=)
10g.68885458A>TCA376881536STOX1c.1662A>T (p.Gln554His)
c.1998A>T (p.Gln666His)
c.463+3348A>T (n.463+3348A>T)
c.663+999A>T (n.663+999A>T)
c.1332A>T (p.Gln444His)
10g.68885459C>ACA376881537STOX1c.1663C>A (p.Pro555Thr)
c.1999C>A (p.Pro667Thr)
c.463+3349C>A (n.463+3349C>A)
c.663+1000C>A (n.663+1000C>A)
c.1333C>A (p.Pro445Thr)
10g.68885459C=CA1917549995STOX1c.1663C= (p.Pro555=)
c.1999C= (p.Pro667=)
c.463+3349C= (n.463+3349C=)
c.663+1000C= (n.663+1000C=)
c.1333C= (p.Pro445=)
10g.68885459C>GCA376881539STOX1c.1663C>G (p.Pro555Ala)
c.1999C>G (p.Pro667Ala)
c.463+3349C>G (n.463+3349C>G)
c.663+1000C>G (n.663+1000C>G)
c.1333C>G (p.Pro445Ala)
10g.68885459C>TCA376881538STOX1c.1663C>T (p.Pro555Ser)
c.1999C>T (p.Pro667Ser)
c.463+3349C>T (n.463+3349C>T)
c.663+1000C>T (n.663+1000C>T)
c.1333C>T (p.Pro445Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.68885460C>ACA376881540STOX1c.1664C>A (p.Pro555His)
c.2000C>A (p.Pro667His)
c.463+3350C>A (n.463+3350C>A)
c.663+1001C>A (n.663+1001C>A)
c.1334C>A (p.Pro445His)
10g.68885460C>GCA376881541STOX1c.1664C>G (p.Pro555Arg)
c.2000C>G (p.Pro667Arg)
c.463+3350C>G (n.463+3350C>G)
c.663+1001C>G (n.663+1001C>G)
c.1334C>G (p.Pro445Arg)
10g.68885460C>TCA376881542STOX1c.1664C>T (p.Pro555Leu)
c.2000C>T (p.Pro667Leu)
c.463+3350C>T (n.463+3350C>T)
c.663+1001C>T (n.663+1001C>T)
c.1334C>T (p.Pro445Leu)
10g.68885461T>ACA470274552STOX1c.1665T>A (p.Pro555=)
c.2001T>A (p.Pro667=)
c.463+3351T>A (n.463+3351T>A)
c.663+1002T>A (n.663+1002T>A)
c.1335T>A (p.Pro445=)
 gnomAD v4
10g.68885461T>CCA470274553STOX1c.1665T>C (p.Pro555=)
c.2001T>C (p.Pro667=)
c.463+3351T>C (n.463+3351T>C)
c.663+1002T>C (n.663+1002T>C)
c.1335T>C (p.Pro445=)
 dbSNP gnomAD v4
10g.68885461T>GCA470274554STOX1c.1665T>G (p.Pro555=)
c.2001T>G (p.Pro667=)
c.463+3351T>G (n.463+3351T>G)
c.663+1002T>G (n.663+1002T>G)
c.1335T>G (p.Pro445=)
10g.68885461T=CA1917549996STOX1c.1665T= (p.Pro555=)
c.2001T= (p.Pro667=)
c.463+3351T= (n.463+3351T=)
c.663+1002T= (n.663+1002T=)
c.1335T= (p.Pro445=)
10g.68885462A=CA1917549997STOX1c.1666A= (p.Asn556=)
c.2002A= (p.Asn668=)
c.463+3352A= (n.463+3352A=)
c.663+1003A= (n.663+1003A=)
c.1336A= (p.Asn446=)
10g.68885462A>CCA376881543STOX1c.1666A>C (p.Asn556His)
c.2002A>C (p.Asn668His)
c.463+3352A>C (n.463+3352A>C)
c.663+1003A>C (n.663+1003A>C)
c.1336A>C (p.Asn446His)
10g.68885462A>GCA376881544STOX1c.1666A>G (p.Asn556Asp)
c.2002A>G (p.Asn668Asp)
c.463+3352A>G (n.463+3352A>G)
c.663+1003A>G (n.663+1003A>G)
c.1336A>G (p.Asn446Asp)
 dbSNP
10g.68885462A>TCA376881545STOX1c.1666A>T (p.Asn556Tyr)
c.2002A>T (p.Asn668Tyr)
c.463+3352A>T (n.463+3352A>T)
c.663+1003A>T (n.663+1003A>T)
c.1336A>T (p.Asn446Tyr)
10g.68885463A=CA1917549998STOX1c.1667A= (p.Asn556=)
c.2003A= (p.Asn668=)
c.463+3353A= (n.463+3353A=)
c.663+1004A= (n.663+1004A=)
c.1337A= (p.Asn446=)
10g.68885463A>CCA376881546STOX1c.1667A>C (p.Asn556Thr)
c.2003A>C (p.Asn668Thr)
c.463+3353A>C (n.463+3353A>C)
c.663+1004A>C (n.663+1004A>C)
c.1337A>C (p.Asn446Thr)
10g.68885463A>GCA376881547STOX1c.1667A>G (p.Asn556Ser)
c.2003A>G (p.Asn668Ser)
c.463+3353A>G (n.463+3353A>G)
c.663+1004A>G (n.663+1004A>G)
c.1337A>G (p.Asn446Ser)
10g.68885463A>TCA376881548STOX1c.1667A>T (p.Asn556Ile)
c.2003A>T (p.Asn668Ile)
c.463+3353A>T (n.463+3353A>T)
c.663+1004A>T (n.663+1004A>T)
c.1337A>T (p.Asn446Ile)
 dbSNP gnomAD v3 gnomAD v4
10g.68885464T>ACA376881549STOX1c.1668T>A (p.Asn556Lys)
c.2004T>A (p.Asn668Lys)
c.463+3354T>A (n.463+3354T>A)
c.663+1005T>A (n.663+1005T>A)
c.1338T>A (p.Asn446Lys)
10g.68885464T>CCA470274556STOX1c.1668T>C (p.Asn556=)
c.2004T>C (p.Asn668=)
c.463+3354T>C (n.463+3354T>C)
c.663+1005T>C (n.663+1005T>C)
c.1338T>C (p.Asn446=)
10g.68885464T>GCA376881550STOX1c.1668T>G (p.Asn556Lys)
c.2004T>G (p.Asn668Lys)
c.463+3354T>G (n.463+3354T>G)
c.663+1005T>G (n.663+1005T>G)
c.1338T>G (p.Asn446Lys)
 gnomAD v4
10g.68885465G>ACA376881552STOX1c.1669G>A (p.Asp557Asn)
c.2005G>A (p.Asp669Asn)
c.463+3355G>A (n.463+3355G>A)
c.663+1006G>A (n.663+1006G>A)
c.1339G>A (p.Asp447Asn)
10g.68885465G>CCA376881553STOX1c.1669G>C (p.Asp557His)
c.2005G>C (p.Asp669His)
c.463+3355G>C (n.463+3355G>C)
c.663+1006G>C (n.663+1006G>C)
c.1339G>C (p.Asp447His)
10g.68885465G>TCA376881551STOX1c.1669G>T (p.Asp557Tyr)
c.2005G>T (p.Asp669Tyr)
c.463+3355G>T (n.463+3355G>T)
c.663+1006G>T (n.663+1006G>T)
c.1339G>T (p.Asp447Tyr)
10g.68885466A=CA1917549999STOX1c.1670A= (p.Asp557=)
c.2006A= (p.Asp669=)
c.463+3356A= (n.463+3356A=)
c.663+1007A= (n.663+1007A=)
c.1340A= (p.Asp447=)
10g.68885466A>CCA376881554STOX1c.1670A>C (p.Asp557Ala)
c.2006A>C (p.Asp669Ala)
c.463+3356A>C (n.463+3356A>C)
c.663+1007A>C (n.663+1007A>C)
c.1340A>C (p.Asp447Ala)
10g.68885466A>GCA376881556STOX1c.1670A>G (p.Asp557Gly)
c.2006A>G (p.Asp669Gly)
c.463+3356A>G (n.463+3356A>G)
c.663+1007A>G (n.663+1007A>G)
c.1340A>G (p.Asp447Gly)
 dbSNP gnomAD v3 gnomAD v4
10g.68885466A>TCA376881555STOX1c.1670A>T (p.Asp557Val)
c.2006A>T (p.Asp669Val)
c.463+3356A>T (n.463+3356A>T)
c.663+1007A>T (n.663+1007A>T)
c.1340A>T (p.Asp447Val)
 dbSNP
10g.68885467T>ACA376881557STOX1c.1671T>A (p.Asp557Glu)
c.2007T>A (p.Asp669Glu)
c.463+3357T>A (n.463+3357T>A)
c.663+1008T>A (n.663+1008T>A)
c.1341T>A (p.Asp447Glu)
10g.68885467T>CCA470274560STOX1c.1671T>C (p.Asp557=)
c.2007T>C (p.Asp669=)
c.463+3357T>C (n.463+3357T>C)
c.663+1008T>C (n.663+1008T>C)
c.1341T>C (p.Asp447=)
10g.68885467T>GCA376881558STOX1c.1671T>G (p.Asp557Glu)
c.2007T>G (p.Asp669Glu)
c.463+3357T>G (n.463+3357T>G)
c.663+1008T>G (n.663+1008T>G)
c.1341T>G (p.Asp447Glu)
10g.68885468A=CA1917550000STOX1c.1672A= (p.Lys558=)
c.2008A= (p.Lys670=)
c.463+3358A= (n.463+3358A=)
c.663+1009A= (n.663+1009A=)
c.1342A= (p.Lys448=)
10g.68885468A>CCA208268056STOX1c.1672A>C (p.Lys558Gln)
c.2008A>C (p.Lys670Gln)
c.463+3358A>C (n.463+3358A>C)
c.663+1009A>C (n.663+1009A>C)
c.1342A>C (p.Lys448Gln)
 dbSNP gnomAD v4
10g.68885468A>GCA376881560STOX1c.1672A>G (p.Lys558Glu)
c.2008A>G (p.Lys670Glu)
c.463+3358A>G (n.463+3358A>G)
c.663+1009A>G (n.663+1009A>G)
c.1342A>G (p.Lys448Glu)
10g.68885468A>TCA376881559STOX1c.1672A>T (p.Lys558Ter)
c.2008A>T (p.Lys670Ter)
c.463+3358A>T (n.463+3358A>T)
c.663+1009A>T (n.663+1009A>T)
c.1342A>T (p.Lys448Ter)
10g.68885469A>CCA376881561STOX1c.1673A>C (p.Lys558Thr)
c.2009A>C (p.Lys670Thr)
c.463+3359A>C (n.463+3359A>C)
c.663+1010A>C (n.663+1010A>C)
c.1343A>C (p.Lys448Thr)
 gnomAD v4
10g.68885469A>GCA376881562STOX1c.1673A>G (p.Lys558Arg)
c.2009A>G (p.Lys670Arg)
c.463+3359A>G (n.463+3359A>G)
c.663+1010A>G (n.663+1010A>G)
c.1343A>G (p.Lys448Arg)
 gnomAD v4
10g.68885469A>TCA376881563STOX1c.1673A>T (p.Lys558Ile)
c.2009A>T (p.Lys670Ile)
c.463+3359A>T (n.463+3359A>T)
c.663+1010A>T (n.663+1010A>T)
c.1343A>T (p.Lys448Ile)
10g.68885470A>CCA376881564STOX1c.1674A>C (p.Lys558Asn)
c.2010A>C (p.Lys670Asn)
c.463+3360A>C (n.463+3360A>C)
c.663+1011A>C (n.663+1011A>C)
c.1344A>C (p.Lys448Asn)
 gnomAD v4
10g.68885470A>GCA470274562STOX1c.1674A>G (p.Lys558=)
c.2010A>G (p.Lys670=)
c.463+3360A>G (n.463+3360A>G)
c.663+1011A>G (n.663+1011A>G)
c.1344A>G (p.Lys448=)
10g.68885470A>TCA376881565STOX1c.1674A>T (p.Lys558Asn)
c.2010A>T (p.Lys670Asn)
c.463+3360A>T (n.463+3360A>T)
c.663+1011A>T (n.663+1011A>T)
c.1344A>T (p.Lys448Asn)
 gnomAD v4
10g.68885471A>CCA376881566STOX1c.1675A>C (p.Met559Leu)
c.2011A>C (p.Met671Leu)
c.463+3361A>C (n.463+3361A>C)
c.663+1012A>C (n.663+1012A>C)
c.1345A>C (p.Met449Leu)
10g.68885471A>GCA376881567STOX1c.1675A>G (p.Met559Val)
c.2011A>G (p.Met671Val)
c.463+3361A>G (n.463+3361A>G)
c.663+1012A>G (n.663+1012A>G)
c.1345A>G (p.Met449Val)
 gnomAD v4
10g.68885471A>TCA376881568STOX1c.1675A>T (p.Met559Leu)
c.2011A>T (p.Met671Leu)
c.463+3361A>T (n.463+3361A>T)
c.663+1012A>T (n.663+1012A>T)
c.1345A>T (p.Met449Leu)
10g.68885472T>ACA376881569STOX1c.1676T>A (p.Met559Lys)
c.2012T>A (p.Met671Lys)
c.463+3362T>A (n.463+3362T>A)
c.663+1013T>A (n.663+1013T>A)
c.1346T>A (p.Met449Lys)
10g.68885472T>CCA376881570STOX1c.1676T>C (p.Met559Thr)
c.2012T>C (p.Met671Thr)
c.463+3362T>C (n.463+3362T>C)
c.663+1013T>C (n.663+1013T>C)
c.1346T>C (p.Met449Thr)
10g.68885472T>GCA376881571STOX1c.1676T>G (p.Met559Arg)
c.2012T>G (p.Met671Arg)
c.463+3362T>G (n.463+3362T>G)
c.663+1013T>G (n.663+1013T>G)
c.1346T>G (p.Met449Arg)
10g.68885473G>ACA5528209STOX1c.1677G>A (p.Met559Ile)
c.2013G>A (p.Met671Ile)
c.463+3363G>A (n.463+3363G>A)
c.663+1014G>A (n.663+1014G>A)
c.1347G>A (p.Met449Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885473G>CCA376881573STOX1c.1677G>C (p.Met559Ile)
c.2013G>C (p.Met671Ile)
c.463+3363G>C (n.463+3363G>C)
c.663+1014G>C (n.663+1014G>C)
c.1347G>C (p.Met449Ile)
10g.68885473G=CA1917550001STOX1c.1677G= (p.Met559=)
c.2013G= (p.Met671=)
c.463+3363G= (n.463+3363G=)
c.663+1014G= (n.663+1014G=)
c.1347G= (p.Met449=)
10g.68885473G>TCA376881572STOX1c.1677G>T (p.Met559Ile)
c.2013G>T (p.Met671Ile)
c.463+3363G>T (n.463+3363G>T)
c.663+1014G>T (n.663+1014G>T)
c.1347G>T (p.Met449Ile)
10g.68885474G>ACA376881574STOX1c.1678G>A (p.Glu560Lys)
c.2014G>A (p.Glu672Lys)
c.463+3364G>A (n.463+3364G>A)
c.663+1015G>A (n.663+1015G>A)
c.1348G>A (p.Glu450Lys)
10g.68885474G>CCA376881575STOX1c.1678G>C (p.Glu560Gln)
c.2014G>C (p.Glu672Gln)
c.463+3364G>C (n.463+3364G>C)
c.663+1015G>C (n.663+1015G>C)
c.1348G>C (p.Glu450Gln)
10g.68885474G>TCA376881576STOX1c.1678G>T (p.Glu560Ter)
c.2014G>T (p.Glu672Ter)
c.463+3364G>T (n.463+3364G>T)
c.663+1015G>T (n.663+1015G>T)
c.1348G>T (p.Glu450Ter)
10g.68885475A>CCA376881577STOX1c.1679A>C (p.Glu560Ala)
c.2015A>C (p.Glu672Ala)
c.463+3365A>C (n.463+3365A>C)
c.663+1016A>C (n.663+1016A>C)
c.1349A>C (p.Glu450Ala)
10g.68885475A>GCA376881578STOX1c.1679A>G (p.Glu560Gly)
c.2015A>G (p.Glu672Gly)
c.463+3365A>G (n.463+3365A>G)
c.663+1016A>G (n.663+1016A>G)
c.1349A>G (p.Glu450Gly)
10g.68885475A>TCA376881579STOX1c.1679A>T (p.Glu560Val)
c.2015A>T (p.Glu672Val)
c.463+3365A>T (n.463+3365A>T)
c.663+1016A>T (n.663+1016A>T)
c.1349A>T (p.Glu450Val)
10g.68885476A>CCA376881580STOX1c.1680A>C (p.Glu560Asp)
c.2016A>C (p.Glu672Asp)
c.463+3366A>C (n.463+3366A>C)
c.663+1017A>C (n.663+1017A>C)
c.1350A>C (p.Glu450Asp)
10g.68885476A>GCA470274569STOX1c.1680A>G (p.Glu560=)
c.2016A>G (p.Glu672=)
c.463+3366A>G (n.463+3366A>G)
c.663+1017A>G (n.663+1017A>G)
c.1350A>G (p.Glu450=)
10g.68885476A>TCA376881581STOX1c.1680A>T (p.Glu560Asp)
c.2016A>T (p.Glu672Asp)
c.463+3366A>T (n.463+3366A>T)
c.663+1017A>T (n.663+1017A>T)
c.1350A>T (p.Glu450Asp)
10g.68885477G>ACA376881582STOX1c.1681G>A (p.Ala561Thr)
c.2017G>A (p.Ala673Thr)
c.463+3367G>A (n.463+3367G>A)
c.663+1018G>A (n.663+1018G>A)
c.1351G>A (p.Ala451Thr)
10g.68885477G>CCA376881583STOX1c.1681G>C (p.Ala561Pro)
c.2017G>C (p.Ala673Pro)
c.463+3367G>C (n.463+3367G>C)
c.663+1018G>C (n.663+1018G>C)
c.1351G>C (p.Ala451Pro)
10g.68885477G>TCA376881584STOX1c.1681G>T (p.Ala561Ser)
c.2017G>T (p.Ala673Ser)
c.463+3367G>T (n.463+3367G>T)
c.663+1018G>T (n.663+1018G>T)
c.1351G>T (p.Ala451Ser)
10g.68885478C>ACA376881587STOX1c.1682C>A (p.Ala561Glu)
c.2018C>A (p.Ala673Glu)
c.463+3368C>A (n.463+3368C>A)
c.663+1019C>A (n.663+1019C>A)
c.1352C>A (p.Ala451Glu)
 dbSNP gnomAD v3 gnomAD v4
10g.68885478C=CA1917550002STOX1c.1682C= (p.Ala561=)
c.2018C= (p.Ala673=)
c.463+3368C= (n.463+3368C=)
c.663+1019C= (n.663+1019C=)
c.1352C= (p.Ala451=)
10g.68885478C>GCA376881586STOX1c.1682C>G (p.Ala561Gly)
c.2018C>G (p.Ala673Gly)
c.463+3368C>G (n.463+3368C>G)
c.663+1019C>G (n.663+1019C>G)
c.1352C>G (p.Ala451Gly)
10g.68885478C>TCA376881585STOX1c.1682C>T (p.Ala561Val)
c.2018C>T (p.Ala673Val)
c.463+3368C>T (n.463+3368C>T)
c.663+1019C>T (n.663+1019C>T)
c.1352C>T (p.Ala451Val)
10g.68885479A=CA1917550003STOX1c.1683A= (p.Ala561=)
c.2019A= (p.Ala673=)
c.463+3369A= (n.463+3369A=)
c.663+1020A= (n.663+1020A=)
c.1353A= (p.Ala451=)
10g.68885479A>CCA470274570STOX1c.1683A>C (p.Ala561=)
c.2019A>C (p.Ala673=)
c.463+3369A>C (n.463+3369A>C)
c.663+1020A>C (n.663+1020A>C)
c.1353A>C (p.Ala451=)
10g.68885479A>GCA5528210STOX1c.1683A>G (p.Ala561=)
c.2019A>G (p.Ala673=)
c.463+3369A>G (n.463+3369A>G)
c.663+1020A>G (n.663+1020A>G)
c.1353A>G (p.Ala451=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885479A>TCA470274571STOX1c.1683A>T (p.Ala561=)
c.2019A>T (p.Ala673=)
c.463+3369A>T (n.463+3369A>T)
c.663+1020A>T (n.663+1020A>T)
c.1353A>T (p.Ala451=)
10g.68885480G>ACA376881588STOX1c.1684G>A (p.Glu562Lys)
c.2020G>A (p.Glu674Lys)
c.463+3370G>A (n.463+3370G>A)
c.663+1021G>A (n.663+1021G>A)
c.1354G>A (p.Glu452Lys)
 dbSNP
10g.68885480G>CCA376881589STOX1c.1684G>C (p.Glu562Gln)
c.2020G>C (p.Glu674Gln)
c.463+3370G>C (n.463+3370G>C)
c.663+1021G>C (n.663+1021G>C)
c.1354G>C (p.Glu452Gln)
10g.68885480G=CA1917550004STOX1c.1684G= (p.Glu562=)
c.2020G= (p.Glu674=)
c.463+3370G= (n.463+3370G=)
c.663+1021G= (n.663+1021G=)
c.1354G= (p.Glu452=)
10g.68885480G>TCA376881590STOX1c.1684G>T (p.Glu562Ter)
c.2020G>T (p.Glu674Ter)
c.463+3370G>T (n.463+3370G>T)
c.663+1021G>T (n.663+1021G>T)
c.1354G>T (p.Glu452Ter)
10g.68885481A>CCA376881591STOX1c.1685A>C (p.Glu562Ala)
c.2021A>C (p.Glu674Ala)
c.463+3371A>C (n.463+3371A>C)
c.663+1022A>C (n.663+1022A>C)
c.1355A>C (p.Glu452Ala)
10g.68885481A>GCA376881592STOX1c.1685A>G (p.Glu562Gly)
c.2021A>G (p.Glu674Gly)
c.463+3371A>G (n.463+3371A>G)
c.663+1022A>G (n.663+1022A>G)
c.1355A>G (p.Glu452Gly)
 gnomAD v4
10g.68885481A>TCA376881593STOX1c.1685A>T (p.Glu562Val)
c.2021A>T (p.Glu674Val)
c.463+3371A>T (n.463+3371A>T)
c.663+1022A>T (n.663+1022A>T)
c.1355A>T (p.Glu452Val)
10g.68885482A>CCA376881594STOX1c.1686A>C (p.Glu562Asp)
c.2022A>C (p.Glu674Asp)
c.463+3372A>C (n.463+3372A>C)
c.663+1023A>C (n.663+1023A>C)
c.1356A>C (p.Glu452Asp)
10g.68885482A>GCA470274573STOX1c.1686A>G (p.Glu562=)
c.2022A>G (p.Glu674=)
c.463+3372A>G (n.463+3372A>G)
c.663+1023A>G (n.663+1023A>G)
c.1356A>G (p.Glu452=)
 COSMIC
10g.68885482A>TCA376881595STOX1c.1686A>T (p.Glu562Asp)
c.2022A>T (p.Glu674Asp)
c.463+3372A>T (n.463+3372A>T)
c.663+1023A>T (n.663+1023A>T)
c.1356A>T (p.Glu452Asp)
10g.68885483T>ACA376881596STOX1c.1687T>A (p.Ser563Thr)
c.2023T>A (p.Ser675Thr)
c.463+3373T>A (n.463+3373T>A)
c.663+1024T>A (n.663+1024T>A)
c.1357T>A (p.Ser453Thr)
10g.68885483T>CCA376881597STOX1c.1687T>C (p.Ser563Pro)
c.2023T>C (p.Ser675Pro)
c.463+3373T>C (n.463+3373T>C)
c.663+1024T>C (n.663+1024T>C)
c.1357T>C (p.Ser453Pro)
10g.68885483T>GCA376881598STOX1c.1687T>G (p.Ser563Ala)
c.2023T>G (p.Ser675Ala)
c.463+3373T>G (n.463+3373T>G)
c.663+1024T>G (n.663+1024T>G)
c.1357T>G (p.Ser453Ala)
10g.68885484C>ACA376881601STOX1c.1688C>A (p.Ser563Tyr)
c.2024C>A (p.Ser675Tyr)
c.463+3374C>A (n.463+3374C>A)
c.663+1025C>A (n.663+1025C>A)
c.1358C>A (p.Ser453Tyr)
10g.68885484C=CA1917550005STOX1c.1688C= (p.Ser563=)
c.2024C= (p.Ser675=)
c.463+3374C= (n.463+3374C=)
c.663+1025C= (n.663+1025C=)
c.1358C= (p.Ser453=)
10g.68885484C>GCA376881599STOX1c.1688C>G (p.Ser563Cys)
c.2024C>G (p.Ser675Cys)
c.463+3374C>G (n.463+3374C>G)
c.663+1025C>G (n.663+1025C>G)
c.1358C>G (p.Ser453Cys)
10g.68885484C>TCA376881600STOX1c.1688C>T (p.Ser563Phe)
c.2024C>T (p.Ser675Phe)
c.463+3374C>T (n.463+3374C>T)
c.663+1025C>T (n.663+1025C>T)
c.1358C>T (p.Ser453Phe)
 dbSNP gnomAD v4
10g.68885485C>ACA5528211STOX1c.1689C>A (p.Ser563=)
c.2025C>A (p.Ser675=)
c.463+3375C>A (n.463+3375C>A)
c.663+1026C>A (n.663+1026C>A)
c.1359C>A (p.Ser453=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885485C=CA1917550006STOX1c.1689C= (p.Ser563=)
c.2025C= (p.Ser675=)
c.463+3375C= (n.463+3375C=)
c.663+1026C= (n.663+1026C=)
c.1359C= (p.Ser453=)
10g.68885485C>GCA470274575STOX1c.1689C>G (p.Ser563=)
c.2025C>G (p.Ser675=)
c.463+3375C>G (n.463+3375C>G)
c.663+1026C>G (n.663+1026C>G)
c.1359C>G (p.Ser453=)
10g.68885485C>TCA470274576STOX1c.1689C>T (p.Ser563=)
c.2025C>T (p.Ser675=)
c.463+3375C>T (n.463+3375C>T)
c.663+1026C>T (n.663+1026C>T)
c.1359C>T (p.Ser453=)
 gnomAD v4 COSMIC
10g.68885486A=CA1917550007STOX1c.1690A= (p.Ile564=)
c.2026A= (p.Ile676=)
c.463+3376A= (n.463+3376A=)
c.663+1027A= (n.663+1027A=)
c.1360A= (p.Ile454=)
10g.68885486A>CCA376881602STOX1c.1690A>C (p.Ile564Leu)
c.2026A>C (p.Ile676Leu)
c.463+3376A>C (n.463+3376A>C)
c.663+1027A>C (n.663+1027A>C)
c.1360A>C (p.Ile454Leu)
10g.68885486A>GCA376881603STOX1c.1690A>G (p.Ile564Val)
c.2026A>G (p.Ile676Val)
c.463+3376A>G (n.463+3376A>G)
c.663+1027A>G (n.663+1027A>G)
c.1360A>G (p.Ile454Val)
 dbSNP gnomAD v4
10g.68885486A>TCA376881604STOX1c.1690A>T (p.Ile564Phe)
c.2026A>T (p.Ile676Phe)
c.463+3376A>T (n.463+3376A>T)
c.663+1027A>T (n.663+1027A>T)
c.1360A>T (p.Ile454Phe)
10g.68885487_68885490dupCA2609414490STOX1c.1691_1694dup (p.Ile566LeufsTer4)
c.2027_2030dup (p.Ile678LeufsTer4)
c.463+3377_463+3380dup (n.463+3377_463+3380dup)
c.663+1028_663+1031dup (n.663+1028_663+1031dup)
c.1361_1364dup (p.Ile456LeufsTer4)
 gnomAD v4
10g.68885487T>ACA376881605STOX1c.1691T>A (p.Ile564Asn)
c.2027T>A (p.Ile676Asn)
c.463+3377T>A (n.463+3377T>A)
c.663+1028T>A (n.663+1028T>A)
c.1361T>A (p.Ile454Asn)
10g.68885487T>CCA376881606STOX1c.1691T>C (p.Ile564Thr)
c.2027T>C (p.Ile676Thr)
c.463+3377T>C (n.463+3377T>C)
c.663+1028T>C (n.663+1028T>C)
c.1361T>C (p.Ile454Thr)
10g.68885487T>GCA376881607STOX1c.1691T>G (p.Ile564Ser)
c.2027T>G (p.Ile676Ser)
c.463+3377T>G (n.463+3377T>G)
c.663+1028T>G (n.663+1028T>G)
c.1361T>G (p.Ile454Ser)
10g.68885488T>ACA470274578STOX1c.1692T>A (p.Ile564=)
c.2028T>A (p.Ile676=)
c.463+3378T>A (n.463+3378T>A)
c.663+1029T>A (n.663+1029T>A)
c.1362T>A (p.Ile454=)
10g.68885488T>CCA470274579STOX1c.1692T>C (p.Ile564=)
c.2028T>C (p.Ile676=)
c.463+3378T>C (n.463+3378T>C)
c.663+1029T>C (n.663+1029T>C)
c.1362T>C (p.Ile454=)
10g.68885488T>GCA376881608STOX1c.1692T>G (p.Ile564Met)
c.2028T>G (p.Ile676Met)
c.463+3378T>G (n.463+3378T>G)
c.663+1029T>G (n.663+1029T>G)
c.1362T>G (p.Ile454Met)
10g.68885489T>ACA376881609STOX1c.1693T>A (p.Tyr565Asn)
c.2029T>A (p.Tyr677Asn)
c.463+3379T>A (n.463+3379T>A)
c.663+1030T>A (n.663+1030T>A)
c.1363T>A (p.Tyr455Asn)
10g.68885489T>CCA376881610STOX1c.1693T>C (p.Tyr565His)
c.2029T>C (p.Tyr677His)
c.463+3379T>C (n.463+3379T>C)
c.663+1030T>C (n.663+1030T>C)
c.1363T>C (p.Tyr455His)
10g.68885489T>GCA376881611STOX1c.1693T>G (p.Tyr565Asp)
c.2029T>G (p.Tyr677Asp)
c.463+3379T>G (n.463+3379T>G)
c.663+1030T>G (n.663+1030T>G)
c.1363T>G (p.Tyr455Asp)
10g.68885490A>CCA376881614STOX1c.1694A>C (p.Tyr565Ser)
c.2030A>C (p.Tyr677Ser)
c.463+3380A>C (n.463+3380A>C)
c.663+1031A>C (n.663+1031A>C)
c.1364A>C (p.Tyr455Ser)
10g.68885490A>GCA376881613STOX1c.1694A>G (p.Tyr565Cys)
c.2030A>G (p.Tyr677Cys)
c.463+3380A>G (n.463+3380A>G)
c.663+1031A>G (n.663+1031A>G)
c.1364A>G (p.Tyr455Cys)
10g.68885490A>TCA376881612STOX1c.1694A>T (p.Tyr565Phe)
c.2030A>T (p.Tyr677Phe)
c.463+3380A>T (n.463+3380A>T)
c.663+1031A>T (n.663+1031A>T)
c.1364A>T (p.Tyr455Phe)
10g.68885491C>ACA376881615STOX1c.1695C>A (p.Tyr565Ter)
c.2031C>A (p.Tyr677Ter)
c.463+3381C>A (n.463+3381C>A)
c.663+1032C>A (n.663+1032C>A)
c.1365C>A (p.Tyr455Ter)
10g.68885491C>GCA376881616STOX1c.1695C>G (p.Tyr565Ter)
c.2031C>G (p.Tyr677Ter)
c.463+3381C>G (n.463+3381C>G)
c.663+1032C>G (n.663+1032C>G)
c.1365C>G (p.Tyr455Ter)
10g.68885491C>TCA470274581STOX1c.1695C>T (p.Tyr565=)
c.2031C>T (p.Tyr677=)
c.463+3381C>T (n.463+3381C>T)
c.663+1032C>T (n.663+1032C>T)
c.1365C>T (p.Tyr455=)
 gnomAD v4
10g.68885492A=CA1917550008STOX1c.1696A= (p.Ile566=)
c.2032A= (p.Ile678=)
c.463+3382A= (n.463+3382A=)
c.663+1033A= (n.663+1033A=)
c.1366A= (p.Ile456=)
10g.68885492A>CCA376881617STOX1c.1696A>C (p.Ile566Leu)
c.2032A>C (p.Ile678Leu)
c.463+3382A>C (n.463+3382A>C)
c.663+1033A>C (n.663+1033A>C)
c.1366A>C (p.Ile456Leu)
10g.68885492A>GCA376881618STOX1c.1696A>G (p.Ile566Val)
c.2032A>G (p.Ile678Val)
c.463+3382A>G (n.463+3382A>G)
c.663+1033A>G (n.663+1033A>G)
c.1366A>G (p.Ile456Val)
 dbSNP gnomAD v2 gnomAD v4
10g.68885492A>TCA376881619STOX1c.1696A>T (p.Ile566Leu)
c.2032A>T (p.Ile678Leu)
c.463+3382A>T (n.463+3382A>T)
c.663+1033A>T (n.663+1033A>T)
c.1366A>T (p.Ile456Leu)
10g.68885493T>ACA376881620STOX1c.1697T>A (p.Ile566Lys)
c.2033T>A (p.Ile678Lys)
c.463+3383T>A (n.463+3383T>A)
c.663+1034T>A (n.663+1034T>A)
c.1367T>A (p.Ile456Lys)
10g.68885493T>CCA376881621STOX1c.1697T>C (p.Ile566Thr)
c.2033T>C (p.Ile678Thr)
c.463+3383T>C (n.463+3383T>C)
c.663+1034T>C (n.663+1034T>C)
c.1367T>C (p.Ile456Thr)
 COSMIC
10g.68885493T>GCA376881622STOX1c.1697T>G (p.Ile566Arg)
c.2033T>G (p.Ile678Arg)
c.463+3383T>G (n.463+3383T>G)
c.663+1034T>G (n.663+1034T>G)
c.1367T>G (p.Ile456Arg)
10g.68885494A>CCA470274583STOX1c.1698A>C (p.Ile566=)
c.2034A>C (p.Ile678=)
c.463+3384A>C (n.463+3384A>C)
c.663+1035A>C (n.663+1035A>C)
c.1368A>C (p.Ile456=)
 COSMIC
10g.68885494A>GCA376881623STOX1c.1698A>G (p.Ile566Met)
c.2034A>G (p.Ile678Met)
c.463+3384A>G (n.463+3384A>G)
c.663+1035A>G (n.663+1035A>G)
c.1368A>G (p.Ile456Met)
10g.68885494A>TCA470274584STOX1c.1698A>T (p.Ile566=)
c.2034A>T (p.Ile678=)
c.463+3384A>T (n.463+3384A>T)
c.663+1035A>T (n.663+1035A>T)
c.1368A>T (p.Ile456=)
10g.68885495A>CCA376881624STOX1c.1699A>C (p.Asn567His)
c.2035A>C (p.Asn679His)
c.463+3385A>C (n.463+3385A>C)
c.663+1036A>C (n.663+1036A>C)
c.1369A>C (p.Asn457His)
10g.68885495A>GCA376881625STOX1c.1699A>G (p.Asn567Asp)
c.2035A>G (p.Asn679Asp)
c.463+3385A>G (n.463+3385A>G)
c.663+1036A>G (n.663+1036A>G)
c.1369A>G (p.Asn457Asp)
10g.68885495A>TCA376881626STOX1c.1699A>T (p.Asn567Tyr)
c.2035A>T (p.Asn679Tyr)
c.463+3385A>T (n.463+3385A>T)
c.663+1036A>T (n.663+1036A>T)
c.1369A>T (p.Asn457Tyr)
10g.68885496A=CA1917550009STOX1c.1700A= (p.Asn567=)
c.2036A= (p.Asn679=)
c.463+3386A= (n.463+3386A=)
c.663+1037A= (n.663+1037A=)
c.1370A= (p.Asn457=)
10g.68885496A>CCA376881627STOX1c.1700A>C (p.Asn567Thr)
c.2036A>C (p.Asn679Thr)
c.463+3386A>C (n.463+3386A>C)
c.663+1037A>C (n.663+1037A>C)
c.1370A>C (p.Asn457Thr)
10g.68885496A>GCA208268087STOX1c.1700A>G (p.Asn567Ser)
c.2036A>G (p.Asn679Ser)
c.463+3386A>G (n.463+3386A>G)
c.663+1037A>G (n.663+1037A>G)
c.1370A>G (p.Asn457Ser)
 dbSNP gnomAD v4
10g.68885496A>TCA376881628STOX1c.1700A>T (p.Asn567Ile)
c.2036A>T (p.Asn679Ile)
c.463+3386A>T (n.463+3386A>T)
c.663+1037A>T (n.663+1037A>T)
c.1370A>T (p.Asn457Ile)
10g.68885497T>ACA376881629STOX1c.1701T>A (p.Asn567Lys)
c.2037T>A (p.Asn679Lys)
c.463+3387T>A (n.463+3387T>A)
c.663+1038T>A (n.663+1038T>A)
c.1371T>A (p.Asn457Lys)
10g.68885497T>CCA470274586STOX1c.1701T>C (p.Asn567=)
c.2037T>C (p.Asn679=)
c.463+3387T>C (n.463+3387T>C)
c.663+1038T>C (n.663+1038T>C)
c.1371T>C (p.Asn457=)
10g.68885497T>GCA376881630STOX1c.1701T>G (p.Asn567Lys)
c.2037T>G (p.Asn679Lys)
c.463+3387T>G (n.463+3387T>G)
c.663+1038T>G (n.663+1038T>G)
c.1371T>G (p.Asn457Lys)
10g.68885498G>ACA376881631STOX1c.1702G>A (p.Asp568Asn)
c.2038G>A (p.Asp680Asn)
c.463+3388G>A (n.463+3388G>A)
c.663+1039G>A (n.663+1039G>A)
c.1372G>A (p.Asp458Asn)
10g.68885498G>CCA376881632STOX1c.1702G>C (p.Asp568His)
c.2038G>C (p.Asp680His)
c.463+3388G>C (n.463+3388G>C)
c.663+1039G>C (n.663+1039G>C)
c.1372G>C (p.Asp458His)
10g.68885498G>TCA376881633STOX1c.1702G>T (p.Asp568Tyr)
c.2038G>T (p.Asp680Tyr)
c.463+3388G>T (n.463+3388G>T)
c.663+1039G>T (n.663+1039G>T)
c.1372G>T (p.Asp458Tyr)
 COSMIC
10g.68885499A>CCA376881634STOX1c.1703A>C (p.Asp568Ala)
c.2039A>C (p.Asp680Ala)
c.463+3389A>C (n.463+3389A>C)
c.663+1040A>C (n.663+1040A>C)
c.1373A>C (p.Asp458Ala)
10g.68885499A>GCA376881635STOX1c.1703A>G (p.Asp568Gly)
c.2039A>G (p.Asp680Gly)
c.463+3389A>G (n.463+3389A>G)
c.663+1040A>G (n.663+1040A>G)
c.1373A>G (p.Asp458Gly)
10g.68885499A>TCA376881636STOX1c.1703A>T (p.Asp568Val)
c.2039A>T (p.Asp680Val)
c.463+3389A>T (n.463+3389A>T)
c.663+1040A>T (n.663+1040A>T)
c.1373A>T (p.Asp458Val)
10g.68885500C>ACA376881637STOX1c.1704C>A (p.Asp568Glu)
c.2040C>A (p.Asp680Glu)
c.463+3390C>A (n.463+3390C>A)
c.663+1041C>A (n.663+1041C>A)
c.1374C>A (p.Asp458Glu)
10g.68885500C>GCA376881638STOX1c.1704C>G (p.Asp568Glu)
c.2040C>G (p.Asp680Glu)
c.463+3390C>G (n.463+3390C>G)
c.663+1041C>G (n.663+1041C>G)
c.1374C>G (p.Asp458Glu)
10g.68885500C>TCA470274588STOX1c.1704C>T (p.Asp568=)
c.2040C>T (p.Asp680=)
c.463+3390C>T (n.463+3390C>T)
c.663+1041C>T (n.663+1041C>T)
c.1374C>T (p.Asp458=)
 gnomAD v4
10g.68885501C>ACA376881639STOX1c.1705C>A (p.Pro569Thr)
c.2041C>A (p.Pro681Thr)
c.463+3391C>A (n.463+3391C>A)
c.663+1042C>A (n.663+1042C>A)
c.1375C>A (p.Pro459Thr)
 gnomAD v4
10g.68885501C>GCA376881640STOX1c.1705C>G (p.Pro569Ala)
c.2041C>G (p.Pro681Ala)
c.463+3391C>G (n.463+3391C>G)
c.663+1042C>G (n.663+1042C>G)
c.1375C>G (p.Pro459Ala)
10g.68885501C>TCA376881641STOX1c.1705C>T (p.Pro569Ser)
c.2041C>T (p.Pro681Ser)
c.463+3391C>T (n.463+3391C>T)
c.663+1042C>T (n.663+1042C>T)
c.1375C>T (p.Pro459Ser)
10g.68885502C>ACA5528213STOX1c.1706C>A (p.Pro569His)
c.2042C>A (p.Pro681His)
c.463+3392C>A (n.463+3392C>A)
c.663+1043C>A (n.663+1043C>A)
c.1376C>A (p.Pro459His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.68885502C=CA1917550010STOX1c.1706C= (p.Pro569=)
c.2042C= (p.Pro681=)
c.463+3392C= (n.463+3392C=)
c.663+1043C= (n.663+1043C=)
c.1376C= (p.Pro459=)
10g.68885502C>GCA5528212STOX1c.1706C>G (p.Pro569Arg)
c.2042C>G (p.Pro681Arg)
c.463+3392C>G (n.463+3392C>G)
c.663+1043C>G (n.663+1043C>G)
c.1376C>G (p.Pro459Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885502C>TCA376881642STOX1c.1706C>T (p.Pro569Leu)
c.2042C>T (p.Pro681Leu)
c.463+3392C>T (n.463+3392C>T)
c.663+1043C>T (n.663+1043C>T)
c.1376C>T (p.Pro459Leu)
 gnomAD v4
10g.68885503T>ACA470274591STOX1c.1707T>A (p.Pro569=)
c.2043T>A (p.Pro681=)
c.463+3393T>A (n.463+3393T>A)
c.663+1044T>A (n.663+1044T>A)
c.1377T>A (p.Pro459=)
10g.68885503T>CCA470274592STOX1c.1707T>C (p.Pro569=)
c.2043T>C (p.Pro681=)
c.463+3393T>C (n.463+3393T>C)
c.663+1044T>C (n.663+1044T>C)
c.1377T>C (p.Pro459=)
10g.68885503T>GCA470274593STOX1c.1707T>G (p.Pro569=)
c.2043T>G (p.Pro681=)
c.463+3393T>G (n.463+3393T>G)
c.663+1044T>G (n.663+1044T>G)
c.1377T>G (p.Pro459=)
 gnomAD v4
10g.68885504A>CCA376881643STOX1c.1708A>C (p.Thr570Pro)
c.2044A>C (p.Thr682Pro)
c.463+3394A>C (n.463+3394A>C)
c.663+1045A>C (n.663+1045A>C)
c.1378A>C (p.Thr460Pro)
10g.68885504A>GCA376881644STOX1c.1708A>G (p.Thr570Ala)
c.2044A>G (p.Thr682Ala)
c.463+3394A>G (n.463+3394A>G)
c.663+1045A>G (n.663+1045A>G)
c.1378A>G (p.Thr460Ala)
 gnomAD v4
10g.68885504A>TCA376881645STOX1c.1708A>T (p.Thr570Ser)
c.2044A>T (p.Thr682Ser)
c.463+3394A>T (n.463+3394A>T)
c.663+1045A>T (n.663+1045A>T)
c.1378A>T (p.Thr460Ser)
10g.68885505delCA2609414491STOX1c.1709del (p.Thr570MetfsTer?)
c.2045del (p.Thr682MetfsTer?)
c.463+3395del (n.463+3395del)
c.663+1046del (n.663+1046del)
c.1379del (p.Thr460MetfsTer?)
 gnomAD v4
10g.68885505C>ACA376881646STOX1c.1709C>A (p.Thr570Asn)
c.2045C>A (p.Thr682Asn)
c.463+3395C>A (n.463+3395C>A)
c.663+1046C>A (n.663+1046C>A)
c.1379C>A (p.Thr460Asn)
10g.68885505C>GCA376881647STOX1c.1709C>G (p.Thr570Ser)
c.2045C>G (p.Thr682Ser)
c.463+3395C>G (n.463+3395C>G)
c.663+1046C>G (n.663+1046C>G)
c.1379C>G (p.Thr460Ser)
10g.68885505C>TCA376881648STOX1c.1709C>T (p.Thr570Ile)
c.2045C>T (p.Thr682Ile)
c.463+3395C>T (n.463+3395C>T)
c.663+1046C>T (n.663+1046C>T)
c.1379C>T (p.Thr460Ile)
10g.68885506T>ACA470274597STOX1c.1710T>A (p.Thr570=)
c.2046T>A (p.Thr682=)
c.463+3396T>A (n.463+3396T>A)
c.663+1047T>A (n.663+1047T>A)
c.1380T>A (p.Thr460=)
10g.68885506T>CCA5528214STOX1c.1710T>C (p.Thr570=)
c.2046T>C (p.Thr682=)
c.463+3396T>C (n.463+3396T>C)
c.663+1047T>C (n.663+1047T>C)
c.1380T>C (p.Thr460=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885506T>GCA470274598STOX1c.1710T>G (p.Thr570=)
c.2046T>G (p.Thr682=)
c.463+3396T>G (n.463+3396T>G)
c.663+1047T>G (n.663+1047T>G)
c.1380T>G (p.Thr460=)
10g.68885506T=CA1917550011STOX1c.1710T= (p.Thr570=)
c.2046T= (p.Thr682=)
c.463+3396T= (n.463+3396T=)
c.663+1047T= (n.663+1047T=)
c.1380T= (p.Thr460=)
10g.68885507G>ACA376881649STOX1c.1711G>A (p.Val571Ile)
c.2047G>A (p.Val683Ile)
c.463+3397G>A (n.463+3397G>A)
c.663+1048G>A (n.663+1048G>A)
c.1381G>A (p.Val461Ile)
10g.68885507G>CCA376881650STOX1c.1711G>C (p.Val571Leu)
c.2047G>C (p.Val683Leu)
c.463+3397G>C (n.463+3397G>C)
c.663+1048G>C (n.663+1048G>C)
c.1381G>C (p.Val461Leu)
10g.68885507G>TCA376881651STOX1c.1711G>T (p.Val571Phe)
c.2047G>T (p.Val683Phe)
c.463+3397G>T (n.463+3397G>T)
c.663+1048G>T (n.663+1048G>T)
c.1381G>T (p.Val461Phe)
10g.68885508T>ACA376881652STOX1c.1712T>A (p.Val571Asp)
c.2048T>A (p.Val683Asp)
c.463+3398T>A (n.463+3398T>A)
c.663+1049T>A (n.663+1049T>A)
c.1382T>A (p.Val461Asp)
10g.68885508T>CCA376881653STOX1c.1712T>C (p.Val571Ala)
c.2048T>C (p.Val683Ala)
c.463+3398T>C (n.463+3398T>C)
c.663+1049T>C (n.663+1049T>C)
c.1382T>C (p.Val461Ala)
10g.68885508T>GCA376881654STOX1c.1712T>G (p.Val571Gly)
c.2048T>G (p.Val683Gly)
c.463+3398T>G (n.463+3398T>G)
c.663+1049T>G (n.663+1049T>G)
c.1382T>G (p.Val461Gly)
10g.68885509C>ACA470274601STOX1c.1713C>A (p.Val571=)
c.2049C>A (p.Val683=)
c.463+3399C>A (n.463+3399C>A)
c.663+1050C>A (n.663+1050C>A)
c.1383C>A (p.Val461=)
10g.68885509C>GCA470274602STOX1c.1713C>G (p.Val571=)
c.2049C>G (p.Val683=)
c.463+3399C>G (n.463+3399C>G)
c.663+1050C>G (n.663+1050C>G)
c.1383C>G (p.Val461=)
 gnomAD v4
10g.68885509C>TCA470274603STOX1c.1713C>T (p.Val571=)
c.2049C>T (p.Val683=)
c.463+3399C>T (n.463+3399C>T)
c.663+1050C>T (n.663+1050C>T)
c.1383C>T (p.Val461=)
10g.68885510A>CCA376881655STOX1c.1714A>C (p.Lys572Gln)
c.2050A>C (p.Lys684Gln)
c.463+3400A>C (n.463+3400A>C)
c.663+1051A>C (n.663+1051A>C)
c.1384A>C (p.Lys462Gln)
10g.68885510A>GCA376881657STOX1c.1714A>G (p.Lys572Glu)
c.2050A>G (p.Lys684Glu)
c.463+3400A>G (n.463+3400A>G)
c.663+1051A>G (n.663+1051A>G)
c.1384A>G (p.Lys462Glu)
10g.68885510A>TCA376881656STOX1c.1714A>T (p.Lys572Ter)
c.2050A>T (p.Lys684Ter)
c.463+3400A>T (n.463+3400A>T)
c.663+1051A>T (n.663+1051A>T)
c.1384A>T (p.Lys462Ter)
10g.68885511A>CCA376881658STOX1c.1715A>C (p.Lys572Thr)
c.2051A>C (p.Lys684Thr)
c.463+3401A>C (n.463+3401A>C)
c.663+1052A>C (n.663+1052A>C)
c.1385A>C (p.Lys462Thr)
10g.68885511A>GCA376881659STOX1c.1715A>G (p.Lys572Arg)
c.2051A>G (p.Lys684Arg)
c.463+3401A>G (n.463+3401A>G)
c.663+1052A>G (n.663+1052A>G)
c.1385A>G (p.Lys462Arg)
 gnomAD v4
10g.68885511A>TCA376881660STOX1c.1715A>T (p.Lys572Ile)
c.2051A>T (p.Lys684Ile)
c.463+3401A>T (n.463+3401A>T)
c.663+1052A>T (n.663+1052A>T)
c.1385A>T (p.Lys462Ile)
10g.68885512A>CCA376881661STOX1c.1716A>C (p.Lys572Asn)
c.2052A>C (p.Lys684Asn)
c.463+3402A>C (n.463+3402A>C)
c.663+1053A>C (n.663+1053A>C)
c.1386A>C (p.Lys462Asn)
10g.68885512A>GCA470274608STOX1c.1716A>G (p.Lys572=)
c.2052A>G (p.Lys684=)
c.463+3402A>G (n.463+3402A>G)
c.663+1053A>G (n.663+1053A>G)
c.1386A>G (p.Lys462=)
10g.68885512A>TCA376881662STOX1c.1716A>T (p.Lys572Asn)
c.2052A>T (p.Lys684Asn)
c.463+3402A>T (n.463+3402A>T)
c.663+1053A>T (n.663+1053A>T)
c.1386A>T (p.Lys462Asn)
10g.68885513C>ACA208268121STOX1c.1717C>A (p.Pro573Thr)
c.2053C>A (p.Pro685Thr)
c.463+3403C>A (n.463+3403C>A)
c.663+1054C>A (n.663+1054C>A)
c.1387C>A (p.Pro463Thr)
 dbSNP gnomAD v3 gnomAD v4
10g.68885513C=CA1917550012STOX1c.1717C= (p.Pro573=)
c.2053C= (p.Pro685=)
c.463+3403C= (n.463+3403C=)
c.663+1054C= (n.663+1054C=)
c.1387C= (p.Pro463=)
10g.68885513C>GCA376881663STOX1c.1717C>G (p.Pro573Ala)
c.2053C>G (p.Pro685Ala)
c.463+3403C>G (n.463+3403C>G)
c.663+1054C>G (n.663+1054C>G)
c.1387C>G (p.Pro463Ala)
10g.68885513C>TCA376881664STOX1c.1717C>T (p.Pro573Ser)
c.2053C>T (p.Pro685Ser)
c.463+3403C>T (n.463+3403C>T)
c.663+1054C>T (n.663+1054C>T)
c.1387C>T (p.Pro463Ser)
10g.68885514C>ACA5528215STOX1c.1718C>A (p.Pro573His)
c.2054C>A (p.Pro685His)
c.463+3404C>A (n.463+3404C>A)
c.663+1055C>A (n.663+1055C>A)
c.1388C>A (p.Pro463His)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885514C=CA1917550013STOX1c.1718C= (p.Pro573=)
c.2054C= (p.Pro685=)
c.463+3404C= (n.463+3404C=)
c.663+1055C= (n.663+1055C=)
c.1388C= (p.Pro463=)
10g.68885514C>GCA376881665STOX1c.1718C>G (p.Pro573Arg)
c.2054C>G (p.Pro685Arg)
c.463+3404C>G (n.463+3404C>G)
c.663+1055C>G (n.663+1055C>G)
c.1388C>G (p.Pro463Arg)
10g.68885514C>TCA376881666STOX1c.1718C>T (p.Pro573Leu)
c.2054C>T (p.Pro685Leu)
c.463+3404C>T (n.463+3404C>T)
c.663+1055C>T (n.663+1055C>T)
c.1388C>T (p.Pro463Leu)
 COSMIC
10g.68885515C>ACA470274610STOX1c.1719C>A (p.Pro573=)
c.2055C>A (p.Pro685=)
c.463+3405C>A (n.463+3405C>A)
c.663+1056C>A (n.663+1056C>A)
c.1389C>A (p.Pro463=)
10g.68885515C>GCA470274611STOX1c.1719C>G (p.Pro573=)
c.2055C>G (p.Pro685=)
c.463+3405C>G (n.463+3405C>G)
c.663+1056C>G (n.663+1056C>G)
c.1389C>G (p.Pro463=)
10g.68885515C>TCA470274612STOX1c.1719C>T (p.Pro573=)
c.2055C>T (p.Pro685=)
c.463+3405C>T (n.463+3405C>T)
c.663+1056C>T (n.663+1056C>T)
c.1389C>T (p.Pro463=)
10g.68885516A=CA1917550014STOX1c.1720A= (p.Ile574=)
c.2056A= (p.Ile686=)
c.463+3406A= (n.463+3406A=)
c.663+1057A= (n.663+1057A=)
c.1390A= (p.Ile464=)
10g.68885516A>CCA376881667STOX1c.1720A>C (p.Ile574Leu)
c.2056A>C (p.Ile686Leu)
c.463+3406A>C (n.463+3406A>C)
c.663+1057A>C (n.663+1057A>C)
c.1390A>C (p.Ile464Leu)
10g.68885516A>GCA376881668STOX1c.1720A>G (p.Ile574Val)
c.2056A>G (p.Ile686Val)
c.463+3406A>G (n.463+3406A>G)
c.663+1057A>G (n.663+1057A>G)
c.1390A>G (p.Ile464Val)
 gnomAD v4
10g.68885516A>TCA208268138STOX1c.1720A>T (p.Ile574Phe)
c.2056A>T (p.Ile686Phe)
c.463+3406A>T (n.463+3406A>T)
c.663+1057A>T (n.663+1057A>T)
c.1390A>T (p.Ile464Phe)
 dbSNP gnomAD v4
10g.68885517T>ACA376881671STOX1c.1721T>A (p.Ile574Asn)
c.2057T>A (p.Ile686Asn)
c.463+3407T>A (n.463+3407T>A)
c.663+1058T>A (n.663+1058T>A)
c.1391T>A (p.Ile464Asn)
 dbSNP gnomAD v3 gnomAD v4
10g.68885517T>CCA376881669STOX1c.1721T>C (p.Ile574Thr)
c.2057T>C (p.Ile686Thr)
c.463+3407T>C (n.463+3407T>C)
c.663+1058T>C (n.663+1058T>C)
c.1391T>C (p.Ile464Thr)
10g.68885517T>GCA376881670STOX1c.1721T>G (p.Ile574Ser)
c.2057T>G (p.Ile686Ser)
c.463+3407T>G (n.463+3407T>G)
c.663+1058T>G (n.663+1058T>G)
c.1391T>G (p.Ile464Ser)
10g.68885517T=CA1917550015STOX1c.1721T= (p.Ile574=)
c.2057T= (p.Ile686=)
c.463+3407T= (n.463+3407T=)
c.663+1058T= (n.663+1058T=)
c.1391T= (p.Ile464=)
10g.68885518C>ACA470274615STOX1c.1722C>A (p.Ile574=)
c.2058C>A (p.Ile686=)
c.463+3408C>A (n.463+3408C>A)
c.663+1059C>A (n.663+1059C>A)
c.1392C>A (p.Ile464=)
 gnomAD v4
10g.68885518C=CA1917550016STOX1c.1722C= (p.Ile574=)
c.2058C= (p.Ile686=)
c.463+3408C= (n.463+3408C=)
c.663+1059C= (n.663+1059C=)
c.1392C= (p.Ile464=)
10g.68885518C>GCA376881672STOX1c.1722C>G (p.Ile574Met)
c.2058C>G (p.Ile686Met)
c.463+3408C>G (n.463+3408C>G)
c.663+1059C>G (n.663+1059C>G)
c.1392C>G (p.Ile464Met)
10g.68885518C>TCA470274616STOX1c.1722C>T (p.Ile574=)
c.2058C>T (p.Ile686=)
c.463+3408C>T (n.463+3408C>T)
c.663+1059C>T (n.663+1059C>T)
c.1392C>T (p.Ile464=)
 dbSNP gnomAD v2 gnomAD v4
10g.68885519A=CA1917550017STOX1c.1723A= (p.Asn575=)
c.2059A= (p.Asn687=)
c.463+3409A= (n.463+3409A=)
c.663+1060A= (n.663+1060A=)
c.1393A= (p.Asn465=)
10g.68885519A>CCA376881673STOX1c.1723A>C (p.Asn575His)
c.2059A>C (p.Asn687His)
c.463+3409A>C (n.463+3409A>C)
c.663+1060A>C (n.663+1060A>C)
c.1393A>C (p.Asn465His)
10g.68885519A>GCA5528216STOX1c.1723A>G (p.Asn575Asp)
c.2059A>G (p.Asn687Asp)
c.463+3409A>G (n.463+3409A>G)
c.663+1060A>G (n.663+1060A>G)
c.1393A>G (p.Asn465Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885519A>TCA376881674STOX1c.1723A>T (p.Asn575Tyr)
c.2059A>T (p.Asn687Tyr)
c.463+3409A>T (n.463+3409A>T)
c.663+1060A>T (n.663+1060A>T)
c.1393A>T (p.Asn465Tyr)
10g.68885519_68885521delCA2609414492STOX1c.1723_1725del (p.Asn575del)
c.2059_2061del (p.Asn687del)
c.463+3409_463+3411del (n.463+3409_463+3411del)
c.663+1060_663+1062del (n.663+1060_663+1062del)
c.1393_1395del (p.Asn465del)
 gnomAD v4
10g.68885520A=CA1917550018STOX1c.1724A= (p.Asn575=)
c.2060A= (p.Asn687=)
c.463+3410A= (n.463+3410A=)
c.663+1061A= (n.663+1061A=)
c.1394A= (p.Asn465=)
10g.68885520A>CCA376881676STOX1c.1724A>C (p.Asn575Thr)
c.2060A>C (p.Asn687Thr)
c.463+3410A>C (n.463+3410A>C)
c.663+1061A>C (n.663+1061A>C)
c.1394A>C (p.Asn465Thr)
10g.68885520A>GCA208268148STOX1c.1724A>G (p.Asn575Ser)
c.2060A>G (p.Asn687Ser)
c.463+3410A>G (n.463+3410A>G)
c.663+1061A>G (n.663+1061A>G)
c.1394A>G (p.Asn465Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.68885520A>TCA376881675STOX1c.1724A>T (p.Asn575Ile)
c.2060A>T (p.Asn687Ile)
c.463+3410A>T (n.463+3410A>T)
c.663+1061A>T (n.663+1061A>T)
c.1394A>T (p.Asn465Ile)
10g.68885521T>ACA376881677STOX1c.1725T>A (p.Asn575Lys)
c.2061T>A (p.Asn687Lys)
c.463+3411T>A (n.463+3411T>A)
c.663+1062T>A (n.663+1062T>A)
c.1395T>A (p.Asn465Lys)
10g.68885521T>CCA470274620STOX1c.1725T>C (p.Asn575=)
c.2061T>C (p.Asn687=)
c.463+3411T>C (n.463+3411T>C)
c.663+1062T>C (n.663+1062T>C)
c.1395T>C (p.Asn465=)
10g.68885521T>GCA376881678STOX1c.1725T>G (p.Asn575Lys)
c.2061T>G (p.Asn687Lys)
c.463+3411T>G (n.463+3411T>G)
c.663+1062T>G (n.663+1062T>G)
c.1395T>G (p.Asn465Lys)
10g.68885522G>ACA376881679STOX1c.1726G>A (p.Asp576Asn)
c.2062G>A (p.Asp688Asn)
c.463+3412G>A (n.463+3412G>A)
c.663+1063G>A (n.663+1063G>A)
c.1396G>A (p.Asp466Asn)
10g.68885522G>CCA376881680STOX1c.1726G>C (p.Asp576His)
c.2062G>C (p.Asp688His)
c.463+3412G>C (n.463+3412G>C)
c.663+1063G>C (n.663+1063G>C)
c.1396G>C (p.Asp466His)
10g.68885522G>TCA376881681STOX1c.1726G>T (p.Asp576Tyr)
c.2062G>T (p.Asp688Tyr)
c.463+3412G>T (n.463+3412G>T)
c.663+1063G>T (n.663+1063G>T)
c.1396G>T (p.Asp466Tyr)
10g.68885523A>CCA376881684STOX1c.1727A>C (p.Asp576Ala)
c.2063A>C (p.Asp688Ala)
c.463+3413A>C (n.463+3413A>C)
c.663+1064A>C (n.663+1064A>C)
c.1397A>C (p.Asp466Ala)
 gnomAD v4
10g.68885523A>GCA376881682STOX1c.1727A>G (p.Asp576Gly)
c.2063A>G (p.Asp688Gly)
c.463+3413A>G (n.463+3413A>G)
c.663+1064A>G (n.663+1064A>G)
c.1397A>G (p.Asp466Gly)
 gnomAD v4
10g.68885523A>TCA376881683STOX1c.1727A>T (p.Asp576Val)
c.2063A>T (p.Asp688Val)
c.463+3413A>T (n.463+3413A>T)
c.663+1064A>T (n.663+1064A>T)
c.1397A>T (p.Asp466Val)
10g.68885524T>ACA376881685STOX1c.1728T>A (p.Asp576Glu)
c.2064T>A (p.Asp688Glu)
c.463+3414T>A (n.463+3414T>A)
c.663+1065T>A (n.663+1065T>A)
c.1398T>A (p.Asp466Glu)
10g.68885524T>CCA470274624STOX1c.1728T>C (p.Asp576=)
c.2064T>C (p.Asp688=)
c.463+3414T>C (n.463+3414T>C)
c.663+1065T>C (n.663+1065T>C)
c.1398T>C (p.Asp466=)
10g.68885524T>GCA376881686STOX1c.1728T>G (p.Asp576Glu)
c.2064T>G (p.Asp688Glu)
c.463+3414T>G (n.463+3414T>G)
c.663+1065T>G (n.663+1065T>G)
c.1398T>G (p.Asp466Glu)
10g.68885525G>ACA376881687STOX1c.1729G>A (p.Asp577Asn)
c.2065G>A (p.Asp689Asn)
c.463+3415G>A (n.463+3415G>A)
c.663+1066G>A (n.663+1066G>A)
c.1399G>A (p.Asp467Asn)
 dbSNP gnomAD v2 gnomAD v4
10g.68885525G>CCA376881688STOX1c.1729G>C (p.Asp577His)
c.2065G>C (p.Asp689His)
c.463+3415G>C (n.463+3415G>C)
c.663+1066G>C (n.663+1066G>C)
c.1399G>C (p.Asp467His)
10g.68885525G=CA1917550019STOX1c.1729G= (p.Asp577=)
c.2065G= (p.Asp689=)
c.463+3415G= (n.463+3415G=)
c.663+1066G= (n.663+1066G=)
c.1399G= (p.Asp467=)
10g.68885525G>TCA376881689STOX1c.1729G>T (p.Asp577Tyr)
c.2065G>T (p.Asp689Tyr)
c.463+3415G>T (n.463+3415G>T)
c.663+1066G>T (n.663+1066G>T)
c.1399G>T (p.Asp467Tyr)
10g.68885526A>CCA376881690STOX1c.1730A>C (p.Asp577Ala)
c.2066A>C (p.Asp689Ala)
c.463+3416A>C (n.463+3416A>C)
c.663+1067A>C (n.663+1067A>C)
c.1400A>C (p.Asp467Ala)
10g.68885526A>GCA376881691STOX1c.1730A>G (p.Asp577Gly)
c.2066A>G (p.Asp689Gly)
c.463+3416A>G (n.463+3416A>G)
c.663+1067A>G (n.663+1067A>G)
c.1400A>G (p.Asp467Gly)
10g.68885526A>TCA376881692STOX1c.1730A>T (p.Asp577Val)
c.2066A>T (p.Asp689Val)
c.463+3416A>T (n.463+3416A>T)
c.663+1067A>T (n.663+1067A>T)
c.1400A>T (p.Asp467Val)
10g.68885527C>ACA376881693STOX1c.1731C>A (p.Asp577Glu)
c.2067C>A (p.Asp689Glu)
c.463+3417C>A (n.463+3417C>A)
c.663+1068C>A (n.663+1068C>A)
c.1401C>A (p.Asp467Glu)
10g.68885527C=CA1917550020STOX1c.1731C= (p.Asp577=)
c.2067C= (p.Asp689=)
c.463+3417C= (n.463+3417C=)
c.663+1068C= (n.663+1068C=)
c.1401C= (p.Asp467=)
10g.68885527C>GCA376881694STOX1c.1731C>G (p.Asp577Glu)
c.2067C>G (p.Asp689Glu)
c.463+3417C>G (n.463+3417C>G)
c.663+1068C>G (n.663+1068C>G)
c.1401C>G (p.Asp467Glu)
10g.68885527C>TCA470274628STOX1c.1731C>T (p.Asp577=)
c.2067C>T (p.Asp689=)
c.463+3417C>T (n.463+3417C>T)
c.663+1068C>T (n.663+1068C>T)
c.1401C>T (p.Asp467=)
 dbSNP gnomAD v2 gnomAD v4
10g.68885528T>ACA5528217STOX1c.1732T>A (p.Phe578Ile)
c.2068T>A (p.Phe690Ile)
c.463+3418T>A (n.463+3418T>A)
c.663+1069T>A (n.663+1069T>A)
c.1402T>A (p.Phe468Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885528T>CCA376881695STOX1c.1732T>C (p.Phe578Leu)
c.2068T>C (p.Phe690Leu)
c.463+3418T>C (n.463+3418T>C)
c.663+1069T>C (n.663+1069T>C)
c.1402T>C (p.Phe468Leu)
10g.68885528T>GCA376881696STOX1c.1732T>G (p.Phe578Val)
c.2068T>G (p.Phe690Val)
c.463+3418T>G (n.463+3418T>G)
c.663+1069T>G (n.663+1069T>G)
c.1402T>G (p.Phe468Val)
10g.68885528T=CA1917550021STOX1c.1732T= (p.Phe578=)
c.2068T= (p.Phe690=)
c.463+3418T= (n.463+3418T=)
c.663+1069T= (n.663+1069T=)
c.1402T= (p.Phe468=)
10g.68885529T>ACA376881697STOX1c.1733T>A (p.Phe578Tyr)
c.2069T>A (p.Phe690Tyr)
c.463+3419T>A (n.463+3419T>A)
c.663+1070T>A (n.663+1070T>A)
c.1403T>A (p.Phe468Tyr)
10g.68885529T>CCA376881699STOX1c.1733T>C (p.Phe578Ser)
c.2069T>C (p.Phe690Ser)
c.463+3419T>C (n.463+3419T>C)
c.663+1070T>C (n.663+1070T>C)
c.1403T>C (p.Phe468Ser)
10g.68885529T>GCA376881698STOX1c.1733T>G (p.Phe578Cys)
c.2069T>G (p.Phe690Cys)
c.463+3419T>G (n.463+3419T>G)
c.663+1070T>G (n.663+1070T>G)
c.1403T>G (p.Phe468Cys)
10g.68885530C>ACA376881700STOX1c.1734C>A (p.Phe578Leu)
c.2070C>A (p.Phe690Leu)
c.463+3420C>A (n.463+3420C>A)
c.663+1071C>A (n.663+1071C>A)
c.1404C>A (p.Phe468Leu)
10g.68885530C>GCA376881701STOX1c.1734C>G (p.Phe578Leu)
c.2070C>G (p.Phe690Leu)
c.463+3420C>G (n.463+3420C>G)
c.663+1071C>G (n.663+1071C>G)
c.1404C>G (p.Phe468Leu)
10g.68885530C>TCA470274060STOX1c.1734C>T (p.Phe578=)
c.2070C>T (p.Phe690=)
c.463+3420C>T (n.463+3420C>T)
c.663+1071C>T (n.663+1071C>T)
c.1404C>T (p.Phe468=)
10g.68885531A>CCA470274061STOX1c.1735A>C (p.Arg579=)
c.2071A>C (p.Arg691=)
c.463+3421A>C (n.463+3421A>C)
c.663+1072A>C (n.663+1072A>C)
c.1405A>C (p.Arg469=)
10g.68885531A>GCA376881702STOX1c.1735A>G (p.Arg579Gly)
c.2071A>G (p.Arg691Gly)
c.463+3421A>G (n.463+3421A>G)
c.663+1072A>G (n.663+1072A>G)
c.1405A>G (p.Arg469Gly)
10g.68885531A>TCA376881703STOX1c.1735A>T (p.Arg579Ter)
c.2071A>T (p.Arg691Ter)
c.463+3421A>T (n.463+3421A>T)
c.663+1072A>T (n.663+1072A>T)
c.1405A>T (p.Arg469Ter)
10g.68885532G>ACA376881704STOX1c.1736G>A (p.Arg579Lys)
c.2072G>A (p.Arg691Lys)
c.463+3422G>A (n.463+3422G>A)
c.663+1073G>A (n.663+1073G>A)
c.1406G>A (p.Arg469Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.68885532G>CCA376881705STOX1c.1736G>C (p.Arg579Thr)
c.2072G>C (p.Arg691Thr)
c.463+3422G>C (n.463+3422G>C)
c.663+1073G>C (n.663+1073G>C)
c.1406G>C (p.Arg469Thr)
10g.68885532G=CA1917550022STOX1c.1736G= (p.Arg579=)
c.2072G= (p.Arg691=)
c.463+3422G= (n.463+3422G=)
c.663+1073G= (n.663+1073G=)
c.1406G= (p.Arg469=)
10g.68885532G>TCA376881706STOX1c.1736G>T (p.Arg579Ile)
c.2072G>T (p.Arg691Ile)
c.463+3422G>T (n.463+3422G>T)
c.663+1073G>T (n.663+1073G>T)
c.1406G>T (p.Arg469Ile)
10g.68885533A>CCA376881707STOX1c.1737A>C (p.Arg579Ser)
c.2073A>C (p.Arg691Ser)
c.463+3423A>C (n.463+3423A>C)
c.663+1074A>C (n.663+1074A>C)
c.1407A>C (p.Arg469Ser)
10g.68885533A>GCA470274062STOX1c.1737A>G (p.Arg579=)
c.2073A>G (p.Arg691=)
c.463+3423A>G (n.463+3423A>G)
c.663+1074A>G (n.663+1074A>G)
c.1407A>G (p.Arg469=)
10g.68885533A>TCA376881708STOX1c.1737A>T (p.Arg579Ser)
c.2073A>T (p.Arg691Ser)
c.463+3423A>T (n.463+3423A>T)
c.663+1074A>T (n.663+1074A>T)
c.1407A>T (p.Arg469Ser)
 gnomAD v4
10g.68885534G>ACA5528218STOX1c.1738G>A (p.Gly580Ser)
c.2074G>A (p.Gly692Ser)
c.463+3424G>A (n.463+3424G>A)
c.663+1075G>A (n.663+1075G>A)
c.1408G>A (p.Gly470Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885534G>CCA376881709STOX1c.1738G>C (p.Gly580Arg)
c.2074G>C (p.Gly692Arg)
c.463+3424G>C (n.463+3424G>C)
c.663+1075G>C (n.663+1075G>C)
c.1408G>C (p.Gly470Arg)
10g.68885534G=CA1917550023STOX1c.1738G= (p.Gly580=)
c.2074G= (p.Gly692=)
c.463+3424G= (n.463+3424G=)
c.663+1075G= (n.663+1075G=)
c.1408G= (p.Gly470=)
10g.68885534G>TCA376881710STOX1c.1738G>T (p.Gly580Cys)
c.2074G>T (p.Gly692Cys)
c.463+3424G>T (n.463+3424G>T)
c.663+1075G>T (n.663+1075G>T)
c.1408G>T (p.Gly470Cys)
10g.68885535G>ACA376881713STOX1c.1739G>A (p.Gly580Asp)
c.2075G>A (p.Gly692Asp)
c.463+3425G>A (n.463+3425G>A)
c.663+1076G>A (n.663+1076G>A)
c.1409G>A (p.Gly470Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.68885535G>CCA376881711STOX1c.1739G>C (p.Gly580Ala)
c.2075G>C (p.Gly692Ala)
c.463+3425G>C (n.463+3425G>C)
c.663+1076G>C (n.663+1076G>C)
c.1409G>C (p.Gly470Ala)
10g.68885535G=CA1917550024STOX1c.1739G= (p.Gly580=)
c.2075G= (p.Gly692=)
c.463+3425G= (n.463+3425G=)
c.663+1076G= (n.663+1076G=)
c.1409G= (p.Gly470=)
10g.68885535G>TCA376881712STOX1c.1739G>T (p.Gly580Val)
c.2075G>T (p.Gly692Val)
c.463+3425G>T (n.463+3425G>T)
c.663+1076G>T (n.663+1076G>T)
c.1409G>T (p.Gly470Val)
10g.68885536T>ACA470274063STOX1c.1740T>A (p.Gly580=)
c.2076T>A (p.Gly692=)
c.463+3426T>A (n.463+3426T>A)
c.663+1077T>A (n.663+1077T>A)
c.1410T>A (p.Gly470=)
10g.68885536T>CCA470274064STOX1c.1740T>C (p.Gly580=)
c.2076T>C (p.Gly692=)
c.463+3426T>C (n.463+3426T>C)
c.663+1077T>C (n.663+1077T>C)
c.1410T>C (p.Gly470=)
10g.68885536T>GCA470274065STOX1c.1740T>G (p.Gly580=)
c.2076T>G (p.Gly692=)
c.463+3426T>G (n.463+3426T>G)
c.663+1077T>G (n.663+1077T>G)
c.1410T>G (p.Gly470=)
10g.68885537C>ACA376881714STOX1c.1741C>A (p.His581Asn)
c.2077C>A (p.His693Asn)
c.463+3427C>A (n.463+3427C>A)
c.663+1078C>A (n.663+1078C>A)
c.1411C>A (p.His471Asn)
10g.68885537C>GCA376881715STOX1c.1741C>G (p.His581Asp)
c.2077C>G (p.His693Asp)
c.463+3427C>G (n.463+3427C>G)
c.663+1078C>G (n.663+1078C>G)
c.1411C>G (p.His471Asp)
10g.68885537C>TCA376881716STOX1c.1741C>T (p.His581Tyr)
c.2077C>T (p.His693Tyr)
c.463+3427C>T (n.463+3427C>T)
c.663+1078C>T (n.663+1078C>T)
c.1411C>T (p.His471Tyr)
10g.68885538A>CCA376881717STOX1c.1742A>C (p.His581Pro)
c.2078A>C (p.His693Pro)
c.463+3428A>C (n.463+3428A>C)
c.663+1079A>C (n.663+1079A>C)
c.1412A>C (p.His471Pro)
10g.68885538A>GCA376881718STOX1c.1742A>G (p.His581Arg)
c.2078A>G (p.His693Arg)
c.463+3428A>G (n.463+3428A>G)
c.663+1079A>G (n.663+1079A>G)
c.1412A>G (p.His471Arg)
10g.68885538A>TCA376881719STOX1c.1742A>T (p.His581Leu)
c.2078A>T (p.His693Leu)
c.463+3428A>T (n.463+3428A>T)
c.663+1079A>T (n.663+1079A>T)
c.1412A>T (p.His471Leu)
10g.68885538_68885541dupCA2574568093STOX1c.1742_1745dup (p.Phe583ProfsTer13)
c.2078_2081dup (p.Phe695ProfsTer13)
c.463+3428_463+3431dup (n.463+3428_463+3431dup)
c.663+1079_663+1082dup (n.663+1079_663+1082dup)
c.1412_1415dup (p.Phe473ProfsTer13)
10g.68885539C>ACA376881720STOX1c.1743C>A (p.His581Gln)
c.2079C>A (p.His693Gln)
c.463+3429C>A (n.463+3429C>A)
c.663+1080C>A (n.663+1080C>A)
c.1413C>A (p.His471Gln)
 gnomAD v4
10g.68885539C>GCA376881721STOX1c.1743C>G (p.His581Gln)
c.2079C>G (p.His693Gln)
c.463+3429C>G (n.463+3429C>G)
c.663+1080C>G (n.663+1080C>G)
c.1413C>G (p.His471Gln)
10g.68885539C>TCA470274066STOX1c.1743C>T (p.His581=)
c.2079C>T (p.His693=)
c.463+3429C>T (n.463+3429C>T)
c.663+1080C>T (n.663+1080C>T)
c.1413C>T (p.His471=)
 gnomAD v4
10g.68885540C>ACA376881722STOX1c.1744C>A (p.Leu582Ile)
c.2080C>A (p.Leu694Ile)
c.463+3430C>A (n.463+3430C>A)
c.663+1081C>A (n.663+1081C>A)
c.1414C>A (p.Leu472Ile)
10g.68885540C=CA1917550025STOX1c.1744C= (p.Leu582=)
c.2080C= (p.Leu694=)
c.463+3430C= (n.463+3430C=)
c.663+1081C= (n.663+1081C=)
c.1414C= (p.Leu472=)
10g.68885540C>GCA5528220STOX1c.1744C>G (p.Leu582Val)
c.2080C>G (p.Leu694Val)
c.463+3430C>G (n.463+3430C>G)
c.663+1081C>G (n.663+1081C>G)
c.1414C>G (p.Leu472Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885540C>TCA5528219STOX1c.1744C>T (p.Leu582Phe)
c.2080C>T (p.Leu694Phe)
c.463+3430C>T (n.463+3430C>T)
c.663+1081C>T (n.663+1081C>T)
c.1414C>T (p.Leu472Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885541T>ACA376881725STOX1c.1745T>A (p.Leu582His)
c.2081T>A (p.Leu694His)
c.463+3431T>A (n.463+3431T>A)
c.663+1082T>A (n.663+1082T>A)
c.1415T>A (p.Leu472His)
10g.68885541T>CCA376881724STOX1c.1745T>C (p.Leu582Pro)
c.2081T>C (p.Leu694Pro)
c.463+3431T>C (n.463+3431T>C)
c.663+1082T>C (n.663+1082T>C)
c.1415T>C (p.Leu472Pro)
10g.68885541T>GCA376881723STOX1c.1745T>G (p.Leu582Arg)
c.2081T>G (p.Leu694Arg)
c.463+3431T>G (n.463+3431T>G)
c.663+1082T>G (n.663+1082T>G)
c.1415T>G (p.Leu472Arg)

Number of alleles fetched