Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.54609289C>ACA866830ACOT11,FAM151Ac.1737G>T (p.Leu579=)
c.*177C>A (n.*177C>A)
c.1176G>T (p.Leu392=)
c.1629+1221C>A (n.1629+1221C>A)
n.2040C>A
c.1659G>T (p.Leu553=)
 dbSNP ExAC gnomAD v2
1g.54609289C=CA1167798414ACOT11,FAM151Ac.1737G= (p.Leu579=)
c.*177C= (n.*177C=)
c.1176G= (p.Leu392=)
c.1629+1221C= (n.1629+1221C=)
n.2040C=
c.1659G= (p.Leu553=)
1g.54609289C>GCA418177223ACOT11,FAM151Ac.1737G>C (p.Leu579=)
c.*177C>G (n.*177C>G)
c.1176G>C (p.Leu392=)
c.1629+1221C>G (n.1629+1221C>G)
n.2040C>G
c.1659G>C (p.Leu553=)
1g.54609289C>TCA418177224ACOT11,FAM151Ac.1737G>A (p.Leu579=)
c.*177C>T (n.*177C>T)
c.1176G>A (p.Leu392=)
c.1629+1221C>T (n.1629+1221C>T)
n.2040C>T
c.1659G>A (p.Leu553=)
 gnomAD v4
1g.54609290A>CCA340440717ACOT11,FAM151Ac.1736T>G (p.Leu579Arg)
c.*178A>C (n.*178A>C)
c.1175T>G (p.Leu392Arg)
c.1629+1222A>C (n.1629+1222A>C)
n.2041A>C
c.1658T>G (p.Leu553Arg)
1g.54609290A>GCA340440718ACOT11,FAM151Ac.1736T>C (p.Leu579Pro)
c.*178A>G (n.*178A>G)
c.1175T>C (p.Leu392Pro)
c.1629+1222A>G (n.1629+1222A>G)
n.2041A>G
c.1658T>C (p.Leu553Pro)
1g.54609290A>TCA340440721ACOT11,FAM151Ac.1736T>A (p.Leu579Gln)
c.*178A>T (n.*178A>T)
c.1175T>A (p.Leu392Gln)
c.1629+1222A>T (n.1629+1222A>T)
n.2041A>T
c.1658T>A (p.Leu553Gln)
1g.54609291G>ACA418177225ACOT11,FAM151Ac.1735C>T (p.Leu579=)
c.*179G>A (n.*179G>A)
c.1174C>T (p.Leu392=)
c.1629+1223G>A (n.1629+1223G>A)
n.2042G>A
c.1657C>T (p.Leu553=)
1g.54609291G>CCA340440724ACOT11,FAM151Ac.1735C>G (p.Leu579Val)
c.*179G>C (n.*179G>C)
c.1174C>G (p.Leu392Val)
c.1629+1223G>C (n.1629+1223G>C)
n.2042G>C
c.1657C>G (p.Leu553Val)
1g.54609291G>TCA340440725ACOT11,FAM151Ac.1735C>A (p.Leu579Met)
c.*179G>T (n.*179G>T)
c.1174C>A (p.Leu392Met)
c.1629+1223G>T (n.1629+1223G>T)
n.2042G>T
c.1657C>A (p.Leu553Met)
1g.54609292C>ACA340440726ACOT11,FAM151Ac.1734G>T (p.Leu578Phe)
c.*180C>A (n.*180C>A)
c.1173G>T (p.Leu391Phe)
c.1629+1224C>A (n.1629+1224C>A)
n.2043C>A
c.1656G>T (p.Leu552Phe)
1g.54609292C=CA1167798415ACOT11,FAM151Ac.1734G= (p.Leu578=)
c.*180C= (n.*180C=)
c.1173G= (p.Leu391=)
c.1629+1224C= (n.1629+1224C=)
n.2043C=
c.1656G= (p.Leu552=)
1g.54609292C>GCA340440727ACOT11,FAM151Ac.1734G>C (p.Leu578Phe)
c.*180C>G (n.*180C>G)
c.1173G>C (p.Leu391Phe)
c.1629+1224C>G (n.1629+1224C>G)
n.2043C>G
c.1656G>C (p.Leu552Phe)
1g.54609292C>TCA866831ACOT11,FAM151Ac.1734G>A (p.Leu578=)
c.*180C>T (n.*180C>T)
c.1173G>A (p.Leu391=)
c.1629+1224C>T (n.1629+1224C>T)
n.2043C>T
c.1656G>A (p.Leu552=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609293A>CCA340440728ACOT11,FAM151Ac.1733T>G (p.Leu578Trp)
c.*181A>C (n.*181A>C)
c.1172T>G (p.Leu391Trp)
c.1629+1225A>C (n.1629+1225A>C)
n.2044A>C
c.1655T>G (p.Leu552Trp)
1g.54609293A>GCA340440730ACOT11,FAM151Ac.1733T>C (p.Leu578Ser)
c.*181A>G (n.*181A>G)
c.1172T>C (p.Leu391Ser)
c.1629+1225A>G (n.1629+1225A>G)
n.2044A>G
c.1655T>C (p.Leu552Ser)
1g.54609293A>TCA340440729ACOT11,FAM151Ac.1733T>A (p.Leu578Ter)
c.*181A>T (n.*181A>T)
c.1172T>A (p.Leu391Ter)
c.1629+1225A>T (n.1629+1225A>T)
n.2044A>T
c.1655T>A (p.Leu552Ter)
1g.54609294A=CA1143425286ACOT11,FAM151Ac.1732T= (p.Leu578=)
c.*182A= (n.*182A=)
c.1171T= (p.Leu391=)
c.1629+1226A= (n.1629+1226A=)
n.2045A=
c.1654T= (p.Leu552=)
1g.54609294A>CCA866832ACOT11,FAM151Ac.1732T>G (p.Leu578Val)
c.*182A>C (n.*182A>C)
c.1171T>G (p.Leu391Val)
c.1629+1226A>C (n.1629+1226A>C)
n.2045A>C
c.1654T>G (p.Leu552Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.54609294A>GCA418177226ACOT11,FAM151Ac.1732T>C (p.Leu578=)
c.*182A>G (n.*182A>G)
c.1171T>C (p.Leu391=)
c.1629+1226A>G (n.1629+1226A>G)
n.2045A>G
c.1654T>C (p.Leu552=)
1g.54609294A>TCA340440732ACOT11,FAM151Ac.1732T>A (p.Leu578Met)
c.*182A>T (n.*182A>T)
c.1171T>A (p.Leu391Met)
c.1629+1226A>T (n.1629+1226A>T)
n.2045A>T
c.1654T>A (p.Leu552Met)
1g.54609295G>ACA418177227ACOT11,FAM151Ac.1731C>T (p.Asp577=)
c.*183G>A (n.*183G>A)
c.1170C>T (p.Asp390=)
c.1629+1227G>A (n.1629+1227G>A)
n.2046G>A
c.1653C>T (p.Asp551=)
 dbSNP gnomAD v4
1g.54609295G>CCA340440734ACOT11,FAM151Ac.1731C>G (p.Asp577Glu)
c.*183G>C (n.*183G>C)
c.1170C>G (p.Asp390Glu)
c.1629+1227G>C (n.1629+1227G>C)
n.2046G>C
c.1653C>G (p.Asp551Glu)
 COSMIC
1g.54609295G=CA1167798416ACOT11,FAM151Ac.1731C= (p.Asp577=)
c.*183G= (n.*183G=)
c.1170C= (p.Asp390=)
c.1629+1227G= (n.1629+1227G=)
n.2046G=
c.1653C= (p.Asp551=)
1g.54609295G>TCA340440736ACOT11,FAM151Ac.1731C>A (p.Asp577Glu)
c.*183G>T (n.*183G>T)
c.1170C>A (p.Asp390Glu)
c.1629+1227G>T (n.1629+1227G>T)
n.2046G>T
c.1653C>A (p.Asp551Glu)
1g.54609296T>ACA340440740ACOT11,FAM151Ac.1730A>T (p.Asp577Val)
c.*184T>A (n.*184T>A)
c.1169A>T (p.Asp390Val)
c.1629+1228T>A (n.1629+1228T>A)
n.2047T>A
c.1652A>T (p.Asp551Val)
1g.54609296T>CCA340440741ACOT11,FAM151Ac.1730A>G (p.Asp577Gly)
c.*184T>C (n.*184T>C)
c.1169A>G (p.Asp390Gly)
c.1629+1228T>C (n.1629+1228T>C)
n.2047T>C
c.1652A>G (p.Asp551Gly)
 gnomAD v4
1g.54609296T>GCA340440743ACOT11,FAM151Ac.1730A>C (p.Asp577Ala)
c.*184T>G (n.*184T>G)
c.1169A>C (p.Asp390Ala)
c.1629+1228T>G (n.1629+1228T>G)
n.2047T>G
c.1652A>C (p.Asp551Ala)
1g.54609296_54609297delinsTCCA1167798417ACOT11,FAM151Ac.1729_1730delinsGA (p.Asp577=)
c.*184_*185delinsTC (n.*184_*185delinsTC)
c.1168_1169delinsGA (p.Asp390=)
c.1629+1228_1629+1229delinsTC (n.1629+1228_1629+1229delinsTC)
n.2047_2048delinsTC
c.1651_1652delinsGA (p.Asp551=)
1g.54609297C>ACA340440745ACOT11,FAM151Ac.1729G>T (p.Asp577Tyr)
c.*185C>A (n.*185C>A)
c.1168G>T (p.Asp390Tyr)
c.1629+1229C>A (n.1629+1229C>A)
n.2048C>A
c.1651G>T (p.Asp551Tyr)
1g.54609297C=CA1167798418ACOT11,FAM151Ac.1729G= (p.Asp577=)
c.*185C= (n.*185C=)
c.1168G= (p.Asp390=)
c.1629+1229C= (n.1629+1229C=)
n.2048C=
c.1651G= (p.Asp551=)
1g.54609297C>GCA340440748ACOT11,FAM151Ac.1729G>C (p.Asp577His)
c.*185C>G (n.*185C>G)
c.1168G>C (p.Asp390His)
c.1629+1229C>G (n.1629+1229C>G)
n.2048C>G
c.1651G>C (p.Asp551His)
1g.54609297C>TCA22715347ACOT11,FAM151Ac.1729G>A (p.Asp577Asn)
c.*185C>T (n.*185C>T)
c.1168G>A (p.Asp390Asn)
c.1629+1229C>T (n.1629+1229C>T)
n.2048C>T
c.1651G>A (p.Asp551Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.54609298delCA1001886534ACOT11,FAM151Ac.1729del (p.Asp577ThrfsTer?)
c.*186del (n.*186del)
c.1168del (p.Asp390ThrfsTer?)
c.1629+1230del (n.1629+1230del)
n.2049del
c.1651del (p.Asp551ThrfsTer?)
 dbSNP gnomAD v3 gnomAD v4
1g.54609298C>ACA340440758ACOT11,FAM151Ac.1728G>T (p.Lys576Asn)
c.*186C>A (n.*186C>A)
c.1167G>T (p.Lys389Asn)
c.1629+1230C>A (n.1629+1230C>A)
n.2049C>A
c.1650G>T (p.Lys550Asn)
1g.54609298C=CA1167798419ACOT11,FAM151Ac.1728G= (p.Lys576=)
c.*186C= (n.*186C=)
c.1167G= (p.Lys389=)
c.1629+1230C= (n.1629+1230C=)
n.2049C=
c.1650G= (p.Lys550=)
1g.54609298C>GCA340440756ACOT11,FAM151Ac.1728G>C (p.Lys576Asn)
c.*186C>G (n.*186C>G)
c.1167G>C (p.Lys389Asn)
c.1629+1230C>G (n.1629+1230C>G)
n.2049C>G
c.1650G>C (p.Lys550Asn)
1g.54609298C>TCA418177228ACOT11,FAM151Ac.1728G>A (p.Lys576=)
c.*186C>T (n.*186C>T)
c.1167G>A (p.Lys389=)
c.1629+1230C>T (n.1629+1230C>T)
n.2049C>T
c.1650G>A (p.Lys550=)
 dbSNP gnomAD v2 gnomAD v4
1g.54609298_54609299delinsCTCA1167798420ACOT11,FAM151Ac.1727_1728delinsAG (p.Lys576=)
c.*186_*187delinsCT (n.*186_*187delinsCT)
c.1166_1167delinsAG (p.Lys389=)
c.1629+1230_1629+1231delinsCT (n.1629+1230_1629+1231delinsCT)
n.2049_2050delinsCT
c.1649_1650delinsAG (p.Lys550=)
1g.54609299T>ACA340440761ACOT11,FAM151Ac.1727A>T (p.Lys576Met)
c.*187T>A (n.*187T>A)
c.1166A>T (p.Lys389Met)
c.1629+1231T>A (n.1629+1231T>A)
n.2050T>A
c.1649A>T (p.Lys550Met)
1g.54609299T>CCA340440764ACOT11,FAM151Ac.1727A>G (p.Lys576Arg)
c.*187T>C (n.*187T>C)
c.1166A>G (p.Lys389Arg)
c.1629+1231T>C (n.1629+1231T>C)
n.2050T>C
c.1649A>G (p.Lys550Arg)
1g.54609299T>GCA340440765ACOT11,FAM151Ac.1727A>C (p.Lys576Thr)
c.*187T>G (n.*187T>G)
c.1166A>C (p.Lys389Thr)
c.1629+1231T>G (n.1629+1231T>G)
n.2050T>G
c.1649A>C (p.Lys550Thr)
1g.54609300delCA523274609ACOT11,FAM151Ac.1727del (p.Lys576ArgfsTer?)
c.*188del (n.*188del)
c.1166del (p.Lys389ArgfsTer?)
c.1629+1232del (n.1629+1232del)
n.2051del
c.1649del (p.Lys550ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
1g.54609300T>ACA340440768ACOT11,FAM151Ac.1726A>T (p.Lys576Ter)
c.*188T>A (n.*188T>A)
c.1165A>T (p.Lys389Ter)
c.1629+1232T>A (n.1629+1232T>A)
n.2051T>A
c.1648A>T (p.Lys550Ter)
1g.54609300T>CCA340440771ACOT11,FAM151Ac.1726A>G (p.Lys576Glu)
c.*188T>C (n.*188T>C)
c.1165A>G (p.Lys389Glu)
c.1629+1232T>C (n.1629+1232T>C)
n.2051T>C
c.1648A>G (p.Lys550Glu)
1g.54609300T>GCA340440773ACOT11,FAM151Ac.1726A>C (p.Lys576Gln)
c.*188T>G (n.*188T>G)
c.1165A>C (p.Lys389Gln)
c.1629+1232T>G (n.1629+1232T>G)
n.2051T>G
c.1648A>C (p.Lys550Gln)
1g.54609300T=CA1167798421ACOT11,FAM151Ac.1726A= (p.Lys576=)
c.*188T= (n.*188T=)
c.1165A= (p.Lys389=)
c.1629+1232T= (n.1629+1232T=)
n.2051T=
c.1648A= (p.Lys550=)
1g.54609301G>ACA418177229ACOT11,FAM151Ac.1725C>T (p.His575=)
c.*189G>A (n.*189G>A)
c.1164C>T (p.His388=)
c.1629+1233G>A (n.1629+1233G>A)
n.2052G>A
c.1647C>T (p.His549=)
1g.54609301G>CCA340440776ACOT11,FAM151Ac.1725C>G (p.His575Gln)
c.*189G>C (n.*189G>C)
c.1164C>G (p.His388Gln)
c.1629+1233G>C (n.1629+1233G>C)
n.2052G>C
c.1647C>G (p.His549Gln)
 gnomAD v4
1g.54609301G>TCA340440779ACOT11,FAM151Ac.1725C>A (p.His575Gln)
c.*189G>T (n.*189G>T)
c.1164C>A (p.His388Gln)
c.1629+1233G>T (n.1629+1233G>T)
n.2052G>T
c.1647C>A (p.His549Gln)
 gnomAD v4

Number of alleles fetched