Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.68885424_68885425delCA1917549983STOX1c.1628_1629del (p.Phe543Ter)
c.1964_1965del (p.Phe655Ter)
c.463+3314_463+3315del (n.463+3314_463+3315del)
c.663+965_663+966del (n.663+965_663+966del)
c.1298_1299del (p.Phe433Ter)
 dbSNP
10g.68885425T>ACA376881459STOX1c.1629T>A (p.Phe543Leu)
c.1965T>A (p.Phe655Leu)
c.463+3315T>A (n.463+3315T>A)
c.663+966T>A (n.663+966T>A)
c.1299T>A (p.Phe433Leu)
10g.68885425T>CCA470274511STOX1c.1629T>C (p.Phe543=)
c.1965T>C (p.Phe655=)
c.463+3315T>C (n.463+3315T>C)
c.663+966T>C (n.663+966T>C)
c.1299T>C (p.Phe433=)
10g.68885425T>GCA376881460STOX1c.1629T>G (p.Phe543Leu)
c.1965T>G (p.Phe655Leu)
c.463+3315T>G (n.463+3315T>G)
c.663+966T>G (n.663+966T>G)
c.1299T>G (p.Phe433Leu)
10g.68885426G>ACA376881461STOX1c.1630G>A (p.Asp544Asn)
c.1966G>A (p.Asp656Asn)
c.463+3316G>A (n.463+3316G>A)
c.663+967G>A (n.663+967G>A)
c.1300G>A (p.Asp434Asn)
10g.68885426G>CCA376881462STOX1c.1630G>C (p.Asp544His)
c.1966G>C (p.Asp656His)
c.463+3316G>C (n.463+3316G>C)
c.663+967G>C (n.663+967G>C)
c.1300G>C (p.Asp434His)
10g.68885426G>TCA376881463STOX1c.1630G>T (p.Asp544Tyr)
c.1966G>T (p.Asp656Tyr)
c.463+3316G>T (n.463+3316G>T)
c.663+967G>T (n.663+967G>T)
c.1300G>T (p.Asp434Tyr)
10g.68885427A>CCA376881464STOX1c.1631A>C (p.Asp544Ala)
c.1967A>C (p.Asp656Ala)
c.463+3317A>C (n.463+3317A>C)
c.663+968A>C (n.663+968A>C)
c.1301A>C (p.Asp434Ala)
10g.68885427A>GCA376881466STOX1c.1631A>G (p.Asp544Gly)
c.1967A>G (p.Asp656Gly)
c.463+3317A>G (n.463+3317A>G)
c.663+968A>G (n.663+968A>G)
c.1301A>G (p.Asp434Gly)
10g.68885427A>TCA376881465STOX1c.1631A>T (p.Asp544Val)
c.1967A>T (p.Asp656Val)
c.463+3317A>T (n.463+3317A>T)
c.663+968A>T (n.663+968A>T)
c.1301A>T (p.Asp434Val)
10g.68885428T>ACA208267992STOX1c.1632T>A (p.Asp544Glu)
c.1968T>A (p.Asp656Glu)
c.463+3318T>A (n.463+3318T>A)
c.663+969T>A (n.663+969T>A)
c.1302T>A (p.Asp434Glu)
 dbSNP gnomAD v4
10g.68885428T>CCA470274516STOX1c.1632T>C (p.Asp544=)
c.1968T>C (p.Asp656=)
c.463+3318T>C (n.463+3318T>C)
c.663+969T>C (n.663+969T>C)
c.1302T>C (p.Asp434=)
 gnomAD v4
10g.68885428T>GCA376881467STOX1c.1632T>G (p.Asp544Glu)
c.1968T>G (p.Asp656Glu)
c.463+3318T>G (n.463+3318T>G)
c.663+969T>G (n.663+969T>G)
c.1302T>G (p.Asp434Glu)
10g.68885428T=CA1917549984STOX1c.1632T= (p.Asp544=)
c.1968T= (p.Asp656=)
c.463+3318T= (n.463+3318T=)
c.663+969T= (n.663+969T=)
c.1302T= (p.Asp434=)
10g.68885429G>ACA376881468STOX1c.1633G>A (p.Gly545Ser)
c.1969G>A (p.Gly657Ser)
c.463+3319G>A (n.463+3319G>A)
c.663+970G>A (n.663+970G>A)
c.1303G>A (p.Gly435Ser)
 dbSNP gnomAD v4
10g.68885429G>CCA376881469STOX1c.1633G>C (p.Gly545Arg)
c.1969G>C (p.Gly657Arg)
c.463+3319G>C (n.463+3319G>C)
c.663+970G>C (n.663+970G>C)
c.1303G>C (p.Gly435Arg)
10g.68885429G=CA1917549985STOX1c.1633G= (p.Gly545=)
c.1969G= (p.Gly657=)
c.463+3319G= (n.463+3319G=)
c.663+970G= (n.663+970G=)
c.1303G= (p.Gly435=)
10g.68885429G>TCA376881470STOX1c.1633G>T (p.Gly545Cys)
c.1969G>T (p.Gly657Cys)
c.463+3319G>T (n.463+3319G>T)
c.663+970G>T (n.663+970G>T)
c.1303G>T (p.Gly435Cys)
10g.68885430G>ACA376881471STOX1c.1634G>A (p.Gly545Asp)
c.1970G>A (p.Gly657Asp)
c.463+3320G>A (n.463+3320G>A)
c.663+971G>A (n.663+971G>A)
c.1304G>A (p.Gly435Asp)
10g.68885430G>CCA376881472STOX1c.1634G>C (p.Gly545Ala)
c.1970G>C (p.Gly657Ala)
c.463+3320G>C (n.463+3320G>C)
c.663+971G>C (n.663+971G>C)
c.1304G>C (p.Gly435Ala)
10g.68885430G=CA1917549986STOX1c.1634G= (p.Gly545=)
c.1970G= (p.Gly657=)
c.463+3320G= (n.463+3320G=)
c.663+971G= (n.663+971G=)
c.1304G= (p.Gly435=)
10g.68885430G>TCA376881473STOX1c.1634G>T (p.Gly545Val)
c.1970G>T (p.Gly657Val)
c.463+3320G>T (n.463+3320G>T)
c.663+971G>T (n.663+971G>T)
c.1304G>T (p.Gly435Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.68885431T>ACA470274520STOX1c.1635T>A (p.Gly545=)
c.1971T>A (p.Gly657=)
c.463+3321T>A (n.463+3321T>A)
c.663+972T>A (n.663+972T>A)
c.1305T>A (p.Gly435=)
10g.68885431T>CCA470274521STOX1c.1635T>C (p.Gly545=)
c.1971T>C (p.Gly657=)
c.463+3321T>C (n.463+3321T>C)
c.663+972T>C (n.663+972T>C)
c.1305T>C (p.Gly435=)
 gnomAD v4
10g.68885431T>GCA470274522STOX1c.1635T>G (p.Gly545=)
c.1971T>G (p.Gly657=)
c.463+3321T>G (n.463+3321T>G)
c.663+972T>G (n.663+972T>G)
c.1305T>G (p.Gly435=)
10g.68885432A>CCA376881474STOX1c.1636A>C (p.Lys546Gln)
c.1972A>C (p.Lys658Gln)
c.463+3322A>C (n.463+3322A>C)
c.663+973A>C (n.663+973A>C)
c.1306A>C (p.Lys436Gln)
10g.68885432A>GCA376881475STOX1c.1636A>G (p.Lys546Glu)
c.1972A>G (p.Lys658Glu)
c.463+3322A>G (n.463+3322A>G)
c.663+973A>G (n.663+973A>G)
c.1306A>G (p.Lys436Glu)
 gnomAD v4
10g.68885432A>TCA376881476STOX1c.1636A>T (p.Lys546Ter)
c.1972A>T (p.Lys658Ter)
c.463+3322A>T (n.463+3322A>T)
c.663+973A>T (n.663+973A>T)
c.1306A>T (p.Lys436Ter)
10g.68885432_68885435delinsAAAGCA1917549987STOX1c.1636_1639delinsAAAG (p.Lys546=)
c.1972_1975delinsAAAG (p.Lys658=)
c.463+3322_463+3325delinsAAAG (n.463+3322_463+3325delinsAAAG)
c.663+973_663+976delinsAAAG (n.663+973_663+976delinsAAAG)
c.1306_1309delinsAAAG (p.Lys436=)
10g.68885433A>CCA376881479STOX1c.1637A>C (p.Lys546Thr)
c.1973A>C (p.Lys658Thr)
c.463+3323A>C (n.463+3323A>C)
c.663+974A>C (n.663+974A>C)
c.1307A>C (p.Lys436Thr)
10g.68885433A>GCA376881478STOX1c.1637A>G (p.Lys546Arg)
c.1973A>G (p.Lys658Arg)
c.463+3323A>G (n.463+3323A>G)
c.663+974A>G (n.663+974A>G)
c.1307A>G (p.Lys436Arg)
10g.68885433A>TCA376881477STOX1c.1637A>T (p.Lys546Ile)
c.1973A>T (p.Lys658Ile)
c.463+3323A>T (n.463+3323A>T)
c.663+974A>T (n.663+974A>T)
c.1307A>T (p.Lys436Ile)
10g.68885433_68885435delCA5528205STOX1c.1637_1639del (p.Lys546_Ala547delinsThr)
c.1973_1975del (p.Lys658_Ala659delinsThr)
c.463+3323_463+3325del (n.463+3323_463+3325del)
c.663+974_663+976del (n.663+974_663+976del)
c.1307_1309del (p.Lys436_Ala437delinsThr)
 dbSNP ExAC gnomAD v4
10g.68885434A>CCA376881480STOX1c.1638A>C (p.Lys546Asn)
c.1974A>C (p.Lys658Asn)
c.463+3324A>C (n.463+3324A>C)
c.663+975A>C (n.663+975A>C)
c.1308A>C (p.Lys436Asn)
10g.68885434A>GCA470274525STOX1c.1638A>G (p.Lys546=)
c.1974A>G (p.Lys658=)
c.463+3324A>G (n.463+3324A>G)
c.663+975A>G (n.663+975A>G)
c.1308A>G (p.Lys436=)
 gnomAD v4
10g.68885434A>TCA376881481STOX1c.1638A>T (p.Lys546Asn)
c.1974A>T (p.Lys658Asn)
c.463+3324A>T (n.463+3324A>T)
c.663+975A>T (n.663+975A>T)
c.1308A>T (p.Lys436Asn)
10g.68885435G>ACA5528206STOX1c.1639G>A (p.Ala547Thr)
c.1975G>A (p.Ala659Thr)
c.463+3325G>A (n.463+3325G>A)
c.663+976G>A (n.663+976G>A)
c.1309G>A (p.Ala437Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885435G>CCA376881482STOX1c.1639G>C (p.Ala547Pro)
c.1975G>C (p.Ala659Pro)
c.463+3325G>C (n.463+3325G>C)
c.663+976G>C (n.663+976G>C)
c.1309G>C (p.Ala437Pro)
10g.68885435G=CA1917549988STOX1c.1639G= (p.Ala547=)
c.1975G= (p.Ala659=)
c.463+3325G= (n.463+3325G=)
c.663+976G= (n.663+976G=)
c.1309G= (p.Ala437=)
10g.68885435G>TCA376881483STOX1c.1639G>T (p.Ala547Ser)
c.1975G>T (p.Ala659Ser)
c.463+3325G>T (n.463+3325G>T)
c.663+976G>T (n.663+976G>T)
c.1309G>T (p.Ala437Ser)
 dbSNP
10g.68885436C>ACA376881484STOX1c.1640C>A (p.Ala547Asp)
c.1976C>A (p.Ala659Asp)
c.463+3326C>A (n.463+3326C>A)
c.663+977C>A (n.663+977C>A)
c.1310C>A (p.Ala437Asp)
10g.68885436C>GCA376881485STOX1c.1640C>G (p.Ala547Gly)
c.1976C>G (p.Ala659Gly)
c.463+3326C>G (n.463+3326C>G)
c.663+977C>G (n.663+977C>G)
c.1310C>G (p.Ala437Gly)
10g.68885436C>TCA376881486STOX1c.1640C>T (p.Ala547Val)
c.1976C>T (p.Ala659Val)
c.463+3326C>T (n.463+3326C>T)
c.663+977C>T (n.663+977C>T)
c.1310C>T (p.Ala437Val)
10g.68885437C>ACA470274527STOX1c.1641C>A (p.Ala547=)
c.1977C>A (p.Ala659=)
c.463+3327C>A (n.463+3327C>A)
c.663+978C>A (n.663+978C>A)
c.1311C>A (p.Ala437=)
 gnomAD v4
10g.68885437C>GCA470274528STOX1c.1641C>G (p.Ala547=)
c.1977C>G (p.Ala659=)
c.463+3327C>G (n.463+3327C>G)
c.663+978C>G (n.663+978C>G)
c.1311C>G (p.Ala437=)
10g.68885437C>TCA470274529STOX1c.1641C>T (p.Ala547=)
c.1977C>T (p.Ala659=)
c.463+3327C>T (n.463+3327C>T)
c.663+978C>T (n.663+978C>T)
c.1311C>T (p.Ala437=)
10g.68885438A=CA1917549989STOX1c.1642A= (p.Lys548=)
c.1978A= (p.Lys660=)
c.463+3328A= (n.463+3328A=)
c.663+979A= (n.663+979A=)
c.1312A= (p.Lys438=)
10g.68885438A>CCA376881487STOX1c.1642A>C (p.Lys548Gln)
c.1978A>C (p.Lys660Gln)
c.463+3328A>C (n.463+3328A>C)
c.663+979A>C (n.663+979A>C)
c.1312A>C (p.Lys438Gln)
 dbSNP gnomAD v2 gnomAD v4
10g.68885438A>GCA376881488STOX1c.1642A>G (p.Lys548Glu)
c.1978A>G (p.Lys660Glu)
c.463+3328A>G (n.463+3328A>G)
c.663+979A>G (n.663+979A>G)
c.1312A>G (p.Lys438Glu)
10g.68885438A>TCA376881489STOX1c.1642A>T (p.Lys548Ter)
c.1978A>T (p.Lys660Ter)
c.463+3328A>T (n.463+3328A>T)
c.663+979A>T (n.663+979A>T)
c.1312A>T (p.Lys438Ter)

Number of alleles fetched