Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.199348808_199348813delCA2573051830SATB2c.708_713del (p.Asn237_Ser238del)
c.1062_1067del (p.Asn355_Ser356del)
c.347-76140_347-76135del (n.347-76140_347-76135del)
c.716_721del
c.885_890del (p.Asn296_Ser297del)
n.701_706del
c.888_893del (p.Asn297_Ser298del)
c.639_644del (p.Asn214_Ser215del)
 ClinVar dbSNP
2g.199348810T>ACA350387373SATB2c.710A>T (p.Asn237Ile)
c.1064A>T (p.Asn355Ile)
c.347-76138A>T (n.347-76138A>T)
c.718A>T
c.887A>T (p.Asn296Ile)
n.703A>T
c.890A>T (p.Asn297Ile)
c.641A>T (p.Asn214Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.199348810T>CCA350387374SATB2c.710A>G (p.Asn237Ser)
c.1064A>G (p.Asn355Ser)
c.347-76138A>G (n.347-76138A>G)
c.718A>G
c.887A>G (p.Asn296Ser)
n.703A>G
c.890A>G (p.Asn297Ser)
c.641A>G (p.Asn214Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.199348810T>GCA350387376SATB2c.710A>C (p.Asn237Thr)
c.1064A>C (p.Asn355Thr)
c.347-76138A>C (n.347-76138A>C)
c.718A>C
c.887A>C (p.Asn296Thr)
n.703A>C
c.890A>C (p.Asn297Thr)
c.641A>C (p.Asn214Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.199348810T=CA1320151653SATB2c.710A= (p.Asn237=)
c.1064A= (p.Asn355=)
c.347-76138A= (n.347-76138A=)
c.718A=
c.887A= (p.Asn296=)
n.703A=
c.890A= (p.Asn297=)
c.641A= (p.Asn214=)
2g.199348811T>ACA350387380SATB2c.709A>T (p.Asn237Tyr)
c.1063A>T (p.Asn355Tyr)
c.347-76139A>T (n.347-76139A>T)
c.717A>T
c.886A>T (p.Asn296Tyr)
n.702A>T
c.889A>T (p.Asn297Tyr)
c.640A>T (p.Asn214Tyr)
2g.199348811T>CCA350387379SATB2c.709A>G (p.Asn237Asp)
c.1063A>G (p.Asn355Asp)
c.347-76139A>G (n.347-76139A>G)
c.717A>G
c.886A>G (p.Asn296Asp)
n.702A>G
c.889A>G (p.Asn297Asp)
c.640A>G (p.Asn214Asp)
2g.199348811T>GCA350387378SATB2c.709A>C (p.Asn237His)
c.1063A>C (p.Asn355His)
c.347-76139A>C (n.347-76139A>C)
c.717A>C
c.886A>C (p.Asn296His)
n.702A>C
c.889A>C (p.Asn297His)
c.640A>C (p.Asn214His)
 gnomAD v4
2g.199348812G>ACA430835172SATB2c.708C>T (p.Thr236=)
c.1062C>T (p.Thr354=)
c.347-76140C>T (n.347-76140C>T)
c.716C>T
c.885C>T (p.Thr295=)
n.701C>T
c.888C>T (p.Thr296=)
c.639C>T (p.Thr213=)
 dbSNP gnomAD v2 gnomAD v4
2g.199348812G>CCA430835173SATB2c.708C>G (p.Thr236=)
c.1062C>G (p.Thr354=)
c.347-76140C>G (n.347-76140C>G)
c.716C>G
c.885C>G (p.Thr295=)
n.701C>G
c.888C>G (p.Thr296=)
c.639C>G (p.Thr213=)
 dbSNP gnomAD v3 gnomAD v4
2g.199348812G=CA1320151654SATB2c.708C= (p.Thr236=)
c.1062C= (p.Thr354=)
c.347-76140C= (n.347-76140C=)
c.716C=
c.885C= (p.Thr295=)
n.701C=
c.888C= (p.Thr296=)
c.639C= (p.Thr213=)
2g.199348812G>TCA430835174SATB2c.708C>A (p.Thr236=)
c.1062C>A (p.Thr354=)
c.347-76140C>A (n.347-76140C>A)
c.716C>A
c.885C>A (p.Thr295=)
n.701C>A
c.888C>A (p.Thr296=)
c.639C>A (p.Thr213=)
2g.199348813G>ACA350387382SATB2c.707C>T (p.Thr236Ile)
c.1061C>T (p.Thr354Ile)
c.347-76141C>T (n.347-76141C>T)
c.715C>T
c.884C>T (p.Thr295Ile)
n.700C>T
c.887C>T (p.Thr296Ile)
c.638C>T (p.Thr213Ile)
2g.199348813G>CCA350387384SATB2c.707C>G (p.Thr236Ser)
c.1061C>G (p.Thr354Ser)
c.347-76141C>G (n.347-76141C>G)
c.715C>G
c.884C>G (p.Thr295Ser)
n.700C>G
c.887C>G (p.Thr296Ser)
c.638C>G (p.Thr213Ser)
2g.199348813G>TCA350387386SATB2c.707C>A (p.Thr236Asn)
c.1061C>A (p.Thr354Asn)
c.347-76141C>A (n.347-76141C>A)
c.715C>A
c.884C>A (p.Thr295Asn)
n.700C>A
c.887C>A (p.Thr296Asn)
c.638C>A (p.Thr213Asn)
2g.199348814T>ACA350387387SATB2c.706A>T (p.Thr236Ser)
c.1060A>T (p.Thr354Ser)
c.347-76142A>T (n.347-76142A>T)
c.714A>T
c.883A>T (p.Thr295Ser)
n.699A>T
c.886A>T (p.Thr296Ser)
c.637A>T (p.Thr213Ser)
2g.199348814T>CCA2045975SATB2c.706A>G (p.Thr236Ala)
c.1060A>G (p.Thr354Ala)
c.347-76142A>G (n.347-76142A>G)
c.714A>G
c.883A>G (p.Thr295Ala)
n.699A>G
c.886A>G (p.Thr296Ala)
c.637A>G (p.Thr213Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.199348814T>GCA350387390SATB2c.706A>C (p.Thr236Pro)
c.1060A>C (p.Thr354Pro)
c.347-76142A>C (n.347-76142A>C)
c.714A>C
c.883A>C (p.Thr295Pro)
n.699A>C
c.886A>C (p.Thr296Pro)
c.637A>C (p.Thr213Pro)
2g.199348814T=CA1320151655SATB2c.706A= (p.Thr236=)
c.1060A= (p.Thr354=)
c.347-76142A= (n.347-76142A=)
c.714A=
c.883A= (p.Thr295=)
n.699A=
c.886A= (p.Thr296=)
c.637A= (p.Thr213=)
2g.199348815T>ACA430835177SATB2c.705A>T (p.Pro235=)
c.1059A>T (p.Pro353=)
c.347-76143A>T (n.347-76143A>T)
c.713A>T
c.882A>T (p.Pro294=)
n.698A>T
c.885A>T (p.Pro295=)
c.636A>T (p.Pro212=)
2g.199348815T>CCA430835175SATB2c.705A>G (p.Pro235=)
c.1059A>G (p.Pro353=)
c.347-76143A>G (n.347-76143A>G)
c.713A>G
c.882A>G (p.Pro294=)
n.698A>G
c.885A>G (p.Pro295=)
c.636A>G (p.Pro212=)
 dbSNP gnomAD v2 gnomAD v4
2g.199348815T>GCA430835176SATB2c.705A>C (p.Pro235=)
c.1059A>C (p.Pro353=)
c.347-76143A>C (n.347-76143A>C)
c.713A>C
c.882A>C (p.Pro294=)
n.698A>C
c.885A>C (p.Pro295=)
c.636A>C (p.Pro212=)
 ClinVar dbSNP gnomAD v4
2g.199348815T=CA1320151656SATB2c.705A= (p.Pro235=)
c.1059A= (p.Pro353=)
c.347-76143A= (n.347-76143A=)
c.713A=
c.882A= (p.Pro294=)
n.698A=
c.885A= (p.Pro295=)
c.636A= (p.Pro212=)
2g.199348816G>ACA350387392SATB2c.704C>T (p.Pro235Leu)
c.1058C>T (p.Pro353Leu)
c.347-76144C>T (n.347-76144C>T)
c.712C>T
c.881C>T (p.Pro294Leu)
n.697C>T
c.884C>T (p.Pro295Leu)
c.635C>T (p.Pro212Leu)
 gnomAD v4
2g.199348816G>CCA350387395SATB2c.704C>G (p.Pro235Arg)
c.1058C>G (p.Pro353Arg)
c.347-76144C>G (n.347-76144C>G)
c.712C>G
c.881C>G (p.Pro294Arg)
n.697C>G
c.884C>G (p.Pro295Arg)
c.635C>G (p.Pro212Arg)
2g.199348816G>TCA350387393SATB2c.704C>A (p.Pro235Gln)
c.1058C>A (p.Pro353Gln)
c.347-76144C>A (n.347-76144C>A)
c.712C>A
c.881C>A (p.Pro294Gln)
n.697C>A
c.884C>A (p.Pro295Gln)
c.635C>A (p.Pro212Gln)
2g.199348817G>ACA350387397SATB2c.703C>T (p.Pro235Ser)
c.1057C>T (p.Pro353Ser)
c.347-76145C>T (n.347-76145C>T)
c.711C>T
c.880C>T (p.Pro294Ser)
n.696C>T
c.883C>T (p.Pro295Ser)
c.634C>T (p.Pro212Ser)
 COSMIC
2g.199348817G>CCA350387398SATB2c.703C>G (p.Pro235Ala)
c.1057C>G (p.Pro353Ala)
c.347-76145C>G (n.347-76145C>G)
c.711C>G
c.880C>G (p.Pro294Ala)
n.696C>G
c.883C>G (p.Pro295Ala)
c.634C>G (p.Pro212Ala)
2g.199348817G>TCA350387399SATB2c.703C>A (p.Pro235Thr)
c.1057C>A (p.Pro353Thr)
c.347-76145C>A (n.347-76145C>A)
c.711C>A
c.880C>A (p.Pro294Thr)
n.696C>A
c.883C>A (p.Pro295Thr)
c.634C>A (p.Pro212Thr)
 COSMIC
2g.199348818C>ACA350387401SATB2c.702G>T (p.Glu234Asp)
c.1056G>T (p.Glu352Asp)
c.347-76146G>T (n.347-76146G>T)
c.710G>T
c.879G>T (p.Glu293Asp)
n.695G>T
c.882G>T (p.Glu294Asp)
c.633G>T (p.Glu211Asp)
 COSMIC
2g.199348818C>GCA350387403SATB2c.702G>C (p.Glu234Asp)
c.1056G>C (p.Glu352Asp)
c.347-76146G>C (n.347-76146G>C)
c.710G>C
c.879G>C (p.Glu293Asp)
n.695G>C
c.882G>C (p.Glu294Asp)
c.633G>C (p.Glu211Asp)
2g.199348818C>TCA430835179SATB2c.702G>A (p.Glu234=)
c.1056G>A (p.Glu352=)
c.347-76146G>A (n.347-76146G>A)
c.710G>A
c.879G>A (p.Glu293=)
n.695G>A
c.882G>A (p.Glu294=)
c.633G>A (p.Glu211=)
 gnomAD v4
2g.199348819T>ACA350387405SATB2c.701A>T (p.Glu234Val)
c.1055A>T (p.Glu352Val)
c.347-76147A>T (n.347-76147A>T)
c.709A>T
c.878A>T (p.Glu293Val)
n.694A>T
c.881A>T (p.Glu294Val)
c.632A>T (p.Glu211Val)
2g.199348819T>CCA350387406SATB2c.701A>G (p.Glu234Gly)
c.1055A>G (p.Glu352Gly)
c.347-76147A>G (n.347-76147A>G)
c.709A>G
c.878A>G (p.Glu293Gly)
n.694A>G
c.881A>G (p.Glu294Gly)
c.632A>G (p.Glu211Gly)
2g.199348819T>GCA350387407SATB2c.701A>C (p.Glu234Ala)
c.1055A>C (p.Glu352Ala)
c.347-76147A>C (n.347-76147A>C)
c.709A>C
c.878A>C (p.Glu293Ala)
n.694A>C
c.881A>C (p.Glu294Ala)
c.632A>C (p.Glu211Ala)
2g.199348820C>ACA350387409SATB2c.700G>T (p.Glu234Ter)
c.1054G>T (p.Glu352Ter)
c.347-76148G>T (n.347-76148G>T)
c.708G>T
c.877G>T (p.Glu293Ter)
n.693G>T
c.880G>T (p.Glu294Ter)
c.631G>T (p.Glu211Ter)
2g.199348820C>GCA350387410SATB2c.700G>C (p.Glu234Gln)
c.1054G>C (p.Glu352Gln)
c.347-76148G>C (n.347-76148G>C)
c.708G>C
c.877G>C (p.Glu293Gln)
n.693G>C
c.880G>C (p.Glu294Gln)
c.631G>C (p.Glu211Gln)
2g.199348820C>TCA350387412SATB2c.700G>A (p.Glu234Lys)
c.1054G>A (p.Glu352Lys)
c.347-76148G>A (n.347-76148G>A)
c.708G>A
c.877G>A (p.Glu293Lys)
n.693G>A
c.880G>A (p.Glu294Lys)
c.631G>A (p.Glu211Lys)
2g.199348821T>ACA430835181SATB2c.699A>T (p.Pro233=)
c.1053A>T (p.Pro351=)
c.347-76149A>T (n.347-76149A>T)
c.707A>T
c.876A>T (p.Pro292=)
n.692A>T
c.879A>T (p.Pro293=)
c.630A>T (p.Pro210=)
2g.199348821T>CCA430835182SATB2c.699A>G (p.Pro233=)
c.1053A>G (p.Pro351=)
c.347-76149A>G (n.347-76149A>G)
c.707A>G
c.876A>G (p.Pro292=)
n.692A>G
c.879A>G (p.Pro293=)
c.630A>G (p.Pro210=)
 ClinVar
2g.199348821T>GCA430835183SATB2c.699A>C (p.Pro233=)
c.1053A>C (p.Pro351=)
c.347-76149A>C (n.347-76149A>C)
c.707A>C
c.876A>C (p.Pro292=)
n.692A>C
c.879A>C (p.Pro293=)
c.630A>C (p.Pro210=)
2g.199348822G>ACA350387416SATB2c.698C>T (p.Pro233Leu)
c.1052C>T (p.Pro351Leu)
c.347-76150C>T (n.347-76150C>T)
c.706C>T
c.875C>T (p.Pro292Leu)
n.691C>T
c.878C>T (p.Pro293Leu)
c.629C>T (p.Pro210Leu)
 COSMIC
2g.199348822G>CCA350387415SATB2c.698C>G (p.Pro233Arg)
c.1052C>G (p.Pro351Arg)
c.347-76150C>G (n.347-76150C>G)
c.706C>G
c.875C>G (p.Pro292Arg)
n.691C>G
c.878C>G (p.Pro293Arg)
c.629C>G (p.Pro210Arg)
2g.199348822G>TCA350387414SATB2c.698C>A (p.Pro233Gln)
c.1052C>A (p.Pro351Gln)
c.347-76150C>A (n.347-76150C>A)
c.706C>A
c.875C>A (p.Pro292Gln)
n.691C>A
c.878C>A (p.Pro293Gln)
c.629C>A (p.Pro210Gln)
2g.199348823G>ACA350387418SATB2c.697C>T (p.Pro233Ser)
c.1051C>T (p.Pro351Ser)
c.347-76151C>T (n.347-76151C>T)
c.705C>T
c.874C>T (p.Pro292Ser)
n.690C>T
c.877C>T (p.Pro293Ser)
c.628C>T (p.Pro210Ser)
2g.199348823G>CCA350387421SATB2c.697C>G (p.Pro233Ala)
c.1051C>G (p.Pro351Ala)
c.347-76151C>G (n.347-76151C>G)
c.705C>G
c.874C>G (p.Pro292Ala)
n.690C>G
c.877C>G (p.Pro293Ala)
c.628C>G (p.Pro210Ala)
2g.199348823G>TCA350387420SATB2c.697C>A (p.Pro233Thr)
c.1051C>A (p.Pro351Thr)
c.347-76151C>A (n.347-76151C>A)
c.705C>A
c.874C>A (p.Pro292Thr)
n.690C>A
c.877C>A (p.Pro293Thr)
c.628C>A (p.Pro210Thr)
2g.199348824C>ACA350387423SATB2c.696G>T (p.Lys232Asn)
c.1050G>T (p.Lys350Asn)
c.347-76152G>T (n.347-76152G>T)
c.704G>T
c.873G>T (p.Lys291Asn)
n.689G>T
c.876G>T (p.Lys292Asn)
c.627G>T (p.Lys209Asn)
2g.199348824C=CA1320151657SATB2c.696G= (p.Lys232=)
c.1050G= (p.Lys350=)
c.347-76152G= (n.347-76152G=)
c.704G=
c.873G= (p.Lys291=)
n.689G=
c.876G= (p.Lys292=)
c.627G= (p.Lys209=)
2g.199348824C>GCA350387424SATB2c.696G>C (p.Lys232Asn)
c.1050G>C (p.Lys350Asn)
c.347-76152G>C (n.347-76152G>C)
c.704G>C
c.873G>C (p.Lys291Asn)
n.689G>C
c.876G>C (p.Lys292Asn)
c.627G>C (p.Lys209Asn)
2g.199348824C>TCA2045976SATB2c.696G>A (p.Lys232=)
c.1050G>A (p.Lys350=)
c.347-76152G>A (n.347-76152G>A)
c.704G>A
c.873G>A (p.Lys291=)
n.689G>A
c.876G>A (p.Lys292=)
c.627G>A (p.Lys209=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.199348825T>ACA350387427SATB2c.695A>T (p.Lys232Met)
c.1049A>T (p.Lys350Met)
c.347-76153A>T (n.347-76153A>T)
c.703A>T
c.872A>T (p.Lys291Met)
n.688A>T
c.875A>T (p.Lys292Met)
c.626A>T (p.Lys209Met)
2g.199348825T>CCA350387428SATB2c.695A>G (p.Lys232Arg)
c.1049A>G (p.Lys350Arg)
c.347-76153A>G (n.347-76153A>G)
c.703A>G
c.872A>G (p.Lys291Arg)
n.688A>G
c.875A>G (p.Lys292Arg)
c.626A>G (p.Lys209Arg)
2g.199348825T>GCA350387429SATB2c.695A>C (p.Lys232Thr)
c.1049A>C (p.Lys350Thr)
c.347-76153A>C (n.347-76153A>C)
c.703A>C
c.872A>C (p.Lys291Thr)
n.688A>C
c.875A>C (p.Lys292Thr)
c.626A>C (p.Lys209Thr)
2g.199348826T>ACA350387431SATB2c.694A>T (p.Lys232Ter)
c.1048A>T (p.Lys350Ter)
c.347-76154A>T (n.347-76154A>T)
c.702A>T
c.871A>T (p.Lys291Ter)
n.687A>T
c.874A>T (p.Lys292Ter)
c.625A>T (p.Lys209Ter)
2g.199348826T>CCA350387433SATB2c.694A>G (p.Lys232Glu)
c.1048A>G (p.Lys350Glu)
c.347-76154A>G (n.347-76154A>G)
c.702A>G
c.871A>G (p.Lys291Glu)
n.687A>G
c.874A>G (p.Lys292Glu)
c.625A>G (p.Lys209Glu)
2g.199348826T>GCA350387435SATB2c.694A>C (p.Lys232Gln)
c.1048A>C (p.Lys350Gln)
c.347-76154A>C (n.347-76154A>C)
c.702A>C
c.871A>C (p.Lys291Gln)
n.687A>C
c.874A>C (p.Lys292Gln)
c.625A>C (p.Lys209Gln)
2g.199348827A>CCA430835187SATB2c.693T>G (p.Val231=)
c.1047T>G (p.Val349=)
c.347-76155T>G (n.347-76155T>G)
c.701T>G
c.870T>G (p.Val290=)
n.686T>G
c.873T>G (p.Val291=)
c.624T>G (p.Val208=)
2g.199348827A>GCA430835188SATB2c.693T>C (p.Val231=)
c.1047T>C (p.Val349=)
c.347-76155T>C (n.347-76155T>C)
c.701T>C
c.870T>C (p.Val290=)
n.686T>C
c.873T>C (p.Val291=)
c.624T>C (p.Val208=)
2g.199348827A>TCA430835189SATB2c.693T>A (p.Val231=)
c.1047T>A (p.Val349=)
c.347-76155T>A (n.347-76155T>A)
c.701T>A
c.870T>A (p.Val290=)
n.686T>A
c.873T>A (p.Val291=)
c.624T>A (p.Val208=)
2g.199348828A>CCA350387436SATB2c.692T>G (p.Val231Gly)
c.1046T>G (p.Val349Gly)
c.347-76156T>G (n.347-76156T>G)
c.700T>G
c.869T>G (p.Val290Gly)
n.685T>G
c.872T>G (p.Val291Gly)
c.623T>G (p.Val208Gly)
2g.199348828A>GCA350387438SATB2c.692T>C (p.Val231Ala)
c.1046T>C (p.Val349Ala)
c.347-76156T>C (n.347-76156T>C)
c.700T>C
c.869T>C (p.Val290Ala)
n.685T>C
c.872T>C (p.Val291Ala)
c.623T>C (p.Val208Ala)
 gnomAD v4
2g.199348828A>TCA350387439SATB2c.692T>A (p.Val231Asp)
c.1046T>A (p.Val349Asp)
c.347-76156T>A (n.347-76156T>A)
c.700T>A
c.869T>A (p.Val290Asp)
n.685T>A
c.872T>A (p.Val291Asp)
c.623T>A (p.Val208Asp)
2g.199348829C>ACA350387444SATB2c.691G>T (p.Val231Phe)
c.1045G>T (p.Val349Phe)
c.347-76157G>T (n.347-76157G>T)
c.699G>T
c.868G>T (p.Val290Phe)
n.684G>T
c.871G>T (p.Val291Phe)
c.622G>T (p.Val208Phe)
2g.199348829C>GCA350387441SATB2c.691G>C (p.Val231Leu)
c.1045G>C (p.Val349Leu)
c.347-76157G>C (n.347-76157G>C)
c.699G>C
c.868G>C (p.Val290Leu)
n.684G>C
c.871G>C (p.Val291Leu)
c.622G>C (p.Val208Leu)
2g.199348829C>TCA350387443SATB2c.691G>A (p.Val231Ile)
c.1045G>A (p.Val349Ile)
c.347-76157G>A (n.347-76157G>A)
c.699G>A
c.868G>A (p.Val290Ile)
n.684G>A
c.871G>A (p.Val291Ile)
c.622G>A (p.Val208Ile)
 COSMIC
2g.199348830T>ACA430835191SATB2c.690A>T (p.Ala230=)
c.1044A>T (p.Ala348=)
c.347-76158A>T (n.347-76158A>T)
c.698A>T
c.867A>T (p.Ala289=)
n.683A>T
c.870A>T (p.Ala290=)
c.621A>T (p.Ala207=)
2g.199348830T>CCA430835192SATB2c.690A>G (p.Ala230=)
c.1044A>G (p.Ala348=)
c.347-76158A>G (n.347-76158A>G)
c.698A>G
c.867A>G (p.Ala289=)
n.683A>G
c.870A>G (p.Ala290=)
c.621A>G (p.Ala207=)
2g.199348830T>GCA430835193SATB2c.690A>C (p.Ala230=)
c.1044A>C (p.Ala348=)
c.347-76158A>C (n.347-76158A>C)
c.698A>C
c.867A>C (p.Ala289=)
n.683A>C
c.870A>C (p.Ala290=)
c.621A>C (p.Ala207=)
2g.199348831G>ACA350387446SATB2c.689C>T (p.Ala230Val)
c.1043C>T (p.Ala348Val)
c.347-76159C>T (n.347-76159C>T)
c.697C>T
c.866C>T (p.Ala289Val)
n.682C>T
c.869C>T (p.Ala290Val)
c.620C>T (p.Ala207Val)
2g.199348831G>CCA350387448SATB2c.689C>G (p.Ala230Gly)
c.1043C>G (p.Ala348Gly)
c.347-76159C>G (n.347-76159C>G)
c.697C>G
c.866C>G (p.Ala289Gly)
n.682C>G
c.869C>G (p.Ala290Gly)
c.620C>G (p.Ala207Gly)
2g.199348831G>TCA350387450SATB2c.689C>A (p.Ala230Glu)
c.1043C>A (p.Ala348Glu)
c.347-76159C>A (n.347-76159C>A)
c.697C>A
c.866C>A (p.Ala289Glu)
n.682C>A
c.869C>A (p.Ala290Glu)
c.620C>A (p.Ala207Glu)
2g.199348832C>ACA350387452SATB2c.688G>T (p.Ala230Ser)
c.1042G>T (p.Ala348Ser)
c.347-76160G>T (n.347-76160G>T)
c.696G>T
c.865G>T (p.Ala289Ser)
n.681G>T
c.868G>T (p.Ala290Ser)
c.619G>T (p.Ala207Ser)
2g.199348832C>GCA350387453SATB2c.688G>C (p.Ala230Pro)
c.1042G>C (p.Ala348Pro)
c.347-76160G>C (n.347-76160G>C)
c.696G>C
c.865G>C (p.Ala289Pro)
n.681G>C
c.868G>C (p.Ala290Pro)
c.619G>C (p.Ala207Pro)
2g.199348832C>TCA350387455SATB2c.688G>A (p.Ala230Thr)
c.1042G>A (p.Ala348Thr)
c.347-76160G>A (n.347-76160G>A)
c.696G>A
c.865G>A (p.Ala289Thr)
n.681G>A
c.868G>A (p.Ala290Thr)
c.619G>A (p.Ala207Thr)
2g.199348833T>ACA350387456SATB2c.687A>T (p.Arg229Ser)
c.1041A>T (p.Arg347Ser)
c.347-76161A>T (n.347-76161A>T)
c.695A>T
c.864A>T (p.Arg288Ser)
n.680A>T
c.867A>T (p.Arg289Ser)
c.618A>T (p.Arg206Ser)
2g.199348833T>CCA430835195SATB2c.687A>G (p.Arg229=)
c.1041A>G (p.Arg347=)
c.347-76161A>G (n.347-76161A>G)
c.695A>G
c.864A>G (p.Arg288=)
n.680A>G
c.867A>G (p.Arg289=)
c.618A>G (p.Arg206=)
 gnomAD v4
2g.199348833T>GCA350387458SATB2c.687A>C (p.Arg229Ser)
c.1041A>C (p.Arg347Ser)
c.347-76161A>C (n.347-76161A>C)
c.695A>C
c.864A>C (p.Arg288Ser)
n.680A>C
c.867A>C (p.Arg289Ser)
c.618A>C (p.Arg206Ser)
 gnomAD v4
2g.199348834C>ACA350387459SATB2c.686G>T (p.Arg229Ile)
c.1040G>T (p.Arg347Ile)
c.347-76162G>T (n.347-76162G>T)
c.694G>T
c.863G>T (p.Arg288Ile)
n.679G>T
c.866G>T (p.Arg289Ile)
c.617G>T (p.Arg206Ile)
2g.199348834C=CA1320151658SATB2c.686G= (p.Arg229=)
c.1040G= (p.Arg347=)
c.347-76162G= (n.347-76162G=)
c.694G=
c.863G= (p.Arg288=)
n.679G=
c.866G= (p.Arg289=)
c.617G= (p.Arg206=)
2g.199348834C>GCA350387461SATB2c.686G>C (p.Arg229Thr)
c.1040G>C (p.Arg347Thr)
c.347-76162G>C (n.347-76162G>C)
c.694G>C
c.863G>C (p.Arg288Thr)
n.679G>C
c.866G>C (p.Arg289Thr)
c.617G>C (p.Arg206Thr)
2g.199348834C>TCA2045977SATB2c.686G>A (p.Arg229Lys)
c.1040G>A (p.Arg347Lys)
c.347-76162G>A (n.347-76162G>A)
c.694G>A
c.863G>A (p.Arg288Lys)
n.679G>A
c.866G>A (p.Arg289Lys)
c.617G>A (p.Arg206Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.199348835T>ACA350387465SATB2c.685A>T (p.Arg229Ter)
c.1039A>T (p.Arg347Ter)
c.347-76163A>T (n.347-76163A>T)
c.693A>T
c.862A>T (p.Arg288Ter)
n.678A>T
c.865A>T (p.Arg289Ter)
c.616A>T (p.Arg206Ter)
2g.199348835T>CCA350387463SATB2c.685A>G (p.Arg229Gly)
c.1039A>G (p.Arg347Gly)
c.347-76163A>G (n.347-76163A>G)
c.693A>G
c.862A>G (p.Arg288Gly)
n.678A>G
c.865A>G (p.Arg289Gly)
c.616A>G (p.Arg206Gly)
 gnomAD v4
2g.199348835T>GCA64251726SATB2c.685A>C (p.Arg229=)
c.1039A>C (p.Arg347=)
c.347-76163A>C (n.347-76163A>C)
c.693A>C
c.862A>C (p.Arg288=)
n.678A>C
c.865A>C (p.Arg289=)
c.616A>C (p.Arg206=)
 dbSNP
2g.199348835T=CA1320151659SATB2c.685A= (p.Arg229=)
c.1039A= (p.Arg347=)
c.347-76163A= (n.347-76163A=)
c.693A=
c.862A= (p.Arg288=)
n.678A=
c.865A= (p.Arg289=)
c.616A= (p.Arg206=)
2g.199348836G>ACA430835198SATB2c.684C>T (p.Pro228=)
c.1038C>T (p.Pro346=)
c.347-76164C>T (n.347-76164C>T)
c.692C>T
c.861C>T (p.Pro287=)
n.677C>T
c.864C>T (p.Pro288=)
c.615C>T (p.Pro205=)
2g.199348836G>CCA430835200SATB2c.684C>G (p.Pro228=)
c.1038C>G (p.Pro346=)
c.347-76164C>G (n.347-76164C>G)
c.692C>G
c.861C>G (p.Pro287=)
n.677C>G
c.864C>G (p.Pro288=)
c.615C>G (p.Pro205=)
2g.199348836G>TCA430835199SATB2c.684C>A (p.Pro228=)
c.1038C>A (p.Pro346=)
c.347-76164C>A (n.347-76164C>A)
c.692C>A
c.861C>A (p.Pro287=)
n.677C>A
c.864C>A (p.Pro288=)
c.615C>A (p.Pro205=)
2g.199348839delCA645519414SATB2c.684del (p.Arg229GlufsTer26)
c.1038del (p.Arg347GlufsTer26)
c.347-76164del (n.347-76164del)
c.692del
c.861del (p.Arg288GlufsTer26)
n.677del
c.864del (p.Arg289GlufsTer26)
c.615del (p.Arg206GlufsTer26)
 COSMIC
2g.199348837G>ACA350387467SATB2c.683C>T (p.Pro228Leu)
c.1037C>T (p.Pro346Leu)
c.347-76165C>T (n.347-76165C>T)
c.691C>T
c.860C>T (p.Pro287Leu)
n.676C>T
c.863C>T (p.Pro288Leu)
c.614C>T (p.Pro205Leu)
2g.199348837G>CCA350387468SATB2c.683C>G (p.Pro228Arg)
c.1037C>G (p.Pro346Arg)
c.347-76165C>G (n.347-76165C>G)
c.691C>G
c.860C>G (p.Pro287Arg)
n.676C>G
c.863C>G (p.Pro288Arg)
c.614C>G (p.Pro205Arg)
2g.199348837G>TCA350387470SATB2c.683C>A (p.Pro228His)
c.1037C>A (p.Pro346His)
c.347-76165C>A (n.347-76165C>A)
c.691C>A
c.860C>A (p.Pro287His)
n.676C>A
c.863C>A (p.Pro288His)
c.614C>A (p.Pro205His)
2g.199348838G>ACA350387471SATB2c.682C>T (p.Pro228Ser)
c.1036C>T (p.Pro346Ser)
c.347-76166C>T (n.347-76166C>T)
c.690C>T
c.859C>T (p.Pro287Ser)
n.675C>T
c.862C>T (p.Pro288Ser)
c.613C>T (p.Pro205Ser)
2g.199348838G>CCA350387473SATB2c.682C>G (p.Pro228Ala)
c.1036C>G (p.Pro346Ala)
c.347-76166C>G (n.347-76166C>G)
c.690C>G
c.859C>G (p.Pro287Ala)
n.675C>G
c.862C>G (p.Pro288Ala)
c.613C>G (p.Pro205Ala)
2g.199348838G>TCA350387474SATB2c.682C>A (p.Pro228Thr)
c.1036C>A (p.Pro346Thr)
c.347-76166C>A (n.347-76166C>A)
c.690C>A
c.859C>A (p.Pro287Thr)
n.675C>A
c.862C>A (p.Pro288Thr)
c.613C>A (p.Pro205Thr)
2g.199348839G>ACA430835201SATB2c.681C>T (p.Ile227=)
c.1035C>T (p.Ile345=)
c.347-76167C>T (n.347-76167C>T)
c.689C>T
c.858C>T (p.Ile286=)
n.674C>T
c.861C>T (p.Ile287=)
c.612C>T (p.Ile204=)
 gnomAD v4
2g.199348839G>CCA350387476SATB2c.681C>G (p.Ile227Met)
c.1035C>G (p.Ile345Met)
c.347-76167C>G (n.347-76167C>G)
c.689C>G
c.858C>G (p.Ile286Met)
n.674C>G
c.861C>G (p.Ile287Met)
c.612C>G (p.Ile204Met)
2g.199348839G=CA1320151660SATB2c.681C= (p.Ile227=)
c.1035C= (p.Ile345=)
c.347-76167C= (n.347-76167C=)
c.689C=
c.858C= (p.Ile286=)
n.674C=
c.861C= (p.Ile287=)
c.612C= (p.Ile204=)
2g.199348839G>TCA2045978SATB2c.681C>A (p.Ile227=)
c.1035C>A (p.Ile345=)
c.347-76167C>A (n.347-76167C>A)
c.689C>A
c.858C>A (p.Ile286=)
n.674C>A
c.861C>A (p.Ile287=)
c.612C>A (p.Ile204=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.199348840A>CCA350387478SATB2c.680T>G (p.Ile227Ser)
c.1034T>G (p.Ile345Ser)
c.347-76168T>G (n.347-76168T>G)
c.688T>G
c.857T>G (p.Ile286Ser)
n.673T>G
c.860T>G (p.Ile287Ser)
c.611T>G (p.Ile204Ser)
2g.199348840A>GCA350387479SATB2c.680T>C (p.Ile227Thr)
c.1034T>C (p.Ile345Thr)
c.347-76168T>C (n.347-76168T>C)
c.688T>C
c.857T>C (p.Ile286Thr)
n.673T>C
c.860T>C (p.Ile287Thr)
c.611T>C (p.Ile204Thr)
2g.199348840A>TCA350387481SATB2c.680T>A (p.Ile227Asn)
c.1034T>A (p.Ile345Asn)
c.347-76168T>A (n.347-76168T>A)
c.688T>A
c.857T>A (p.Ile286Asn)
n.673T>A
c.860T>A (p.Ile287Asn)
c.611T>A (p.Ile204Asn)
2g.199348841T>ACA350387483SATB2c.679A>T (p.Ile227Phe)
c.1033A>T (p.Ile345Phe)
c.347-76169A>T (n.347-76169A>T)
c.687A>T
c.856A>T (p.Ile286Phe)
n.672A>T
c.859A>T (p.Ile287Phe)
c.610A>T (p.Ile204Phe)
2g.199348841T>CCA350387485SATB2c.679A>G (p.Ile227Val)
c.1033A>G (p.Ile345Val)
c.347-76169A>G (n.347-76169A>G)
c.687A>G
c.856A>G (p.Ile286Val)
n.672A>G
c.859A>G (p.Ile287Val)
c.610A>G (p.Ile204Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.199348841T>GCA350387486SATB2c.679A>C (p.Ile227Leu)
c.1033A>C (p.Ile345Leu)
c.347-76169A>C (n.347-76169A>C)
c.687A>C
c.856A>C (p.Ile286Leu)
n.672A>C
c.859A>C (p.Ile287Leu)
c.610A>C (p.Ile204Leu)
2g.199348841T=CA1320151661SATB2c.679A= (p.Ile227=)
c.1033A= (p.Ile345=)
c.347-76169A= (n.347-76169A=)
c.687A=
c.856A= (p.Ile286=)
n.672A=
c.859A= (p.Ile287=)
c.610A= (p.Ile204=)
2g.199348842G>ACA430835203SATB2c.678C>T (p.Pro226=)
c.1032C>T (p.Pro344=)
c.347-76170C>T (n.347-76170C>T)
c.686C>T
c.855C>T (p.Pro285=)
n.671C>T
c.858C>T (p.Pro286=)
c.609C>T (p.Pro203=)
 COSMIC
2g.199348842G>CCA430835204SATB2c.678C>G (p.Pro226=)
c.1032C>G (p.Pro344=)
c.347-76170C>G (n.347-76170C>G)
c.686C>G
c.855C>G (p.Pro285=)
n.671C>G
c.858C>G (p.Pro286=)
c.609C>G (p.Pro203=)
2g.199348842G>TCA430835205SATB2c.678C>A (p.Pro226=)
c.1032C>A (p.Pro344=)
c.347-76170C>A (n.347-76170C>A)
c.686C>A
c.855C>A (p.Pro285=)
n.671C>A
c.858C>A (p.Pro286=)
c.609C>A (p.Pro203=)
 gnomAD v4
2g.199348843G>ACA350387489SATB2c.677C>T (p.Pro226Leu)
c.1031C>T (p.Pro344Leu)
c.347-76171C>T (n.347-76171C>T)
c.685C>T
c.854C>T (p.Pro285Leu)
n.670C>T
c.857C>T (p.Pro286Leu)
c.608C>T (p.Pro203Leu)
2g.199348843G>CCA350387492SATB2c.677C>G (p.Pro226Arg)
c.1031C>G (p.Pro344Arg)
c.347-76171C>G (n.347-76171C>G)
c.685C>G
c.854C>G (p.Pro285Arg)
n.670C>G
c.857C>G (p.Pro286Arg)
c.608C>G (p.Pro203Arg)
2g.199348843G>TCA350387490SATB2c.677C>A (p.Pro226His)
c.1031C>A (p.Pro344His)
c.347-76171C>A (n.347-76171C>A)
c.685C>A
c.854C>A (p.Pro285His)
n.670C>A
c.857C>A (p.Pro286His)
c.608C>A (p.Pro203His)
2g.199348844G>ACA2045979SATB2c.676C>T (p.Pro226Ser)
c.1030C>T (p.Pro344Ser)
c.347-76172C>T (n.347-76172C>T)
c.684C>T
c.853C>T (p.Pro285Ser)
n.669C>T
c.856C>T (p.Pro286Ser)
c.607C>T (p.Pro203Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.199348844G>CCA350387494SATB2c.676C>G (p.Pro226Ala)
c.1030C>G (p.Pro344Ala)
c.347-76172C>G (n.347-76172C>G)
c.684C>G
c.853C>G (p.Pro285Ala)
n.669C>G
c.856C>G (p.Pro286Ala)
c.607C>G (p.Pro203Ala)
2g.199348844G=CA1320151662SATB2c.676C= (p.Pro226=)
c.1030C= (p.Pro344=)
c.347-76172C= (n.347-76172C=)
c.684C=
c.853C= (p.Pro285=)
n.669C=
c.856C= (p.Pro286=)
c.607C= (p.Pro203=)
2g.199348844G>TCA350387496SATB2c.676C>A (p.Pro226Thr)
c.1030C>A (p.Pro344Thr)
c.347-76172C>A (n.347-76172C>A)
c.684C>A
c.853C>A (p.Pro285Thr)
n.669C>A
c.856C>A (p.Pro286Thr)
c.607C>A (p.Pro203Thr)
2g.199348845T>ACA430835206SATB2c.675A>T (p.Pro225=)
c.1029A>T (p.Pro343=)
c.347-76173A>T (n.347-76173A>T)
c.683A>T
c.852A>T (p.Pro284=)
n.668A>T
c.855A>T (p.Pro285=)
c.606A>T (p.Pro202=)
2g.199348845T>CCA430835207SATB2c.675A>G (p.Pro225=)
c.1029A>G (p.Pro343=)
c.347-76173A>G (n.347-76173A>G)
c.683A>G
c.852A>G (p.Pro284=)
n.668A>G
c.855A>G (p.Pro285=)
c.606A>G (p.Pro202=)
2g.199348845T>GCA430835208SATB2c.675A>C (p.Pro225=)
c.1029A>C (p.Pro343=)
c.347-76173A>C (n.347-76173A>C)
c.683A>C
c.852A>C (p.Pro284=)
n.668A>C
c.855A>C (p.Pro285=)
c.606A>C (p.Pro202=)
2g.199348846_199348853delCA2740096408SATB2c.668_675del (p.Asn223ThrfsTer7)
c.1022_1029del (p.Asn341ThrfsTer7)
c.347-76180_347-76173del (n.347-76180_347-76173del)
c.676_683del
c.845_852del (p.Asn282ThrfsTer7)
n.661_668del
c.848_855del (p.Asn283ThrfsTer7)
c.599_606del (p.Asn200ThrfsTer7)
 ClinVar
2g.199348846G>ACA64251727SATB2c.674C>T (p.Pro225Leu)
c.1028C>T (p.Pro343Leu)
c.347-76174C>T (n.347-76174C>T)
c.682C>T
c.851C>T (p.Pro284Leu)
n.667C>T
c.854C>T (p.Pro285Leu)
c.605C>T (p.Pro202Leu)
 dbSNP
2g.199348846G>CCA350387498SATB2c.674C>G (p.Pro225Arg)
c.1028C>G (p.Pro343Arg)
c.347-76174C>G (n.347-76174C>G)
c.682C>G
c.851C>G (p.Pro284Arg)
n.667C>G
c.854C>G (p.Pro285Arg)
c.605C>G (p.Pro202Arg)
2g.199348846G=CA1320151663SATB2c.674C= (p.Pro225=)
c.1028C= (p.Pro343=)
c.347-76174C= (n.347-76174C=)
c.682C=
c.851C= (p.Pro284=)
n.667C=
c.854C= (p.Pro285=)
c.605C= (p.Pro202=)
2g.199348846G>TCA350387500SATB2c.674C>A (p.Pro225Gln)
c.1028C>A (p.Pro343Gln)
c.347-76174C>A (n.347-76174C>A)
c.682C>A
c.851C>A (p.Pro284Gln)
n.667C>A
c.854C>A (p.Pro285Gln)
c.605C>A (p.Pro202Gln)
2g.199348847G>ACA350387502SATB2c.673C>T (p.Pro225Ser)
c.1027C>T (p.Pro343Ser)
c.347-76175C>T (n.347-76175C>T)
c.681C>T
c.850C>T (p.Pro284Ser)
n.666C>T
c.853C>T (p.Pro285Ser)
c.604C>T (p.Pro202Ser)
2g.199348847G>CCA350387504SATB2c.673C>G (p.Pro225Ala)
c.1027C>G (p.Pro343Ala)
c.347-76175C>G (n.347-76175C>G)
c.681C>G
c.850C>G (p.Pro284Ala)
n.666C>G
c.853C>G (p.Pro285Ala)
c.604C>G (p.Pro202Ala)
2g.199348847G=CA1320151664SATB2c.673C= (p.Pro225=)
c.1027C= (p.Pro343=)
c.347-76175C= (n.347-76175C=)
c.681C=
c.850C= (p.Pro284=)
n.666C=
c.853C= (p.Pro285=)
c.604C= (p.Pro202=)
2g.199348847G>TCA350387505SATB2c.673C>A (p.Pro225Thr)
c.1027C>A (p.Pro343Thr)
c.347-76175C>A (n.347-76175C>A)
c.681C>A
c.850C>A (p.Pro284Thr)
n.666C>A
c.853C>A (p.Pro285Thr)
c.604C>A (p.Pro202Thr)
 dbSNP COSMIC
2g.199348848A>CCA350387507SATB2c.672T>G (p.His224Gln)
c.1026T>G (p.His342Gln)
c.347-76176T>G (n.347-76176T>G)
c.680T>G
c.849T>G (p.His283Gln)
n.665T>G
c.852T>G (p.His284Gln)
c.603T>G (p.His201Gln)
2g.199348848A>GCA430835210SATB2c.672T>C (p.His224=)
c.1026T>C (p.His342=)
c.347-76176T>C (n.347-76176T>C)
c.680T>C
c.849T>C (p.His283=)
n.665T>C
c.852T>C (p.His284=)
c.603T>C (p.His201=)
2g.199348848A>TCA350387508SATB2c.672T>A (p.His224Gln)
c.1026T>A (p.His342Gln)
c.347-76176T>A (n.347-76176T>A)
c.680T>A
c.849T>A (p.His283Gln)
n.665T>A
c.852T>A (p.His284Gln)
c.603T>A (p.His201Gln)
2g.199348849T>ACA350387510SATB2c.671A>T (p.His224Leu)
c.1025A>T (p.His342Leu)
c.347-76177A>T (n.347-76177A>T)
c.679A>T
c.848A>T (p.His283Leu)
n.664A>T
c.851A>T (p.His284Leu)
c.602A>T (p.His201Leu)
2g.199348849T>CCA350387512SATB2c.671A>G (p.His224Arg)
c.1025A>G (p.His342Arg)
c.347-76177A>G (n.347-76177A>G)
c.679A>G
c.848A>G (p.His283Arg)
n.664A>G
c.851A>G (p.His284Arg)
c.602A>G (p.His201Arg)
 gnomAD v4
2g.199348849T>GCA350387511SATB2c.671A>C (p.His224Pro)
c.1025A>C (p.His342Pro)
c.347-76177A>C (n.347-76177A>C)
c.679A>C
c.848A>C (p.His283Pro)
n.664A>C
c.851A>C (p.His284Pro)
c.602A>C (p.His201Pro)
2g.199348850G>ACA350387515SATB2c.670C>T (p.His224Tyr)
c.1024C>T (p.His342Tyr)
c.347-76178C>T (n.347-76178C>T)
c.678C>T
c.847C>T (p.His283Tyr)
n.663C>T
c.850C>T (p.His284Tyr)
c.601C>T (p.His201Tyr)
2g.199348850G>CCA350387518SATB2c.670C>G (p.His224Asp)
c.1024C>G (p.His342Asp)
c.347-76178C>G (n.347-76178C>G)
c.678C>G
c.847C>G (p.His283Asp)
n.663C>G
c.850C>G (p.His284Asp)
c.601C>G (p.His201Asp)
2g.199348850G>TCA350387516SATB2c.670C>A (p.His224Asn)
c.1024C>A (p.His342Asn)
c.347-76178C>A (n.347-76178C>A)
c.678C>A
c.847C>A (p.His283Asn)
n.663C>A
c.850C>A (p.His284Asn)
c.601C>A (p.His201Asn)
2g.199348851G>ACA430835214SATB2c.669C>T (p.Asn223=)
c.1023C>T (p.Asn341=)
c.347-76179C>T (n.347-76179C>T)
c.677C>T
c.846C>T (p.Asn282=)
n.662C>T
c.849C>T (p.Asn283=)
c.600C>T (p.Asn200=)
 gnomAD v4
2g.199348851G>CCA350387520SATB2c.669C>G (p.Asn223Lys)
c.1023C>G (p.Asn341Lys)
c.347-76179C>G (n.347-76179C>G)
c.677C>G
c.846C>G (p.Asn282Lys)
n.662C>G
c.849C>G (p.Asn283Lys)
c.600C>G (p.Asn200Lys)
2g.199348851G>TCA350387521SATB2c.669C>A (p.Asn223Lys)
c.1023C>A (p.Asn341Lys)
c.347-76179C>A (n.347-76179C>A)
c.677C>A
c.846C>A (p.Asn282Lys)
n.662C>A
c.849C>A (p.Asn283Lys)
c.600C>A (p.Asn200Lys)
2g.199348852T>ACA350387523SATB2c.668A>T (p.Asn223Ile)
c.1022A>T (p.Asn341Ile)
c.347-76180A>T (n.347-76180A>T)
c.676A>T
c.845A>T (p.Asn282Ile)
n.661A>T
c.848A>T (p.Asn283Ile)
c.599A>T (p.Asn200Ile)
2g.199348852T>CCA350387525SATB2c.668A>G (p.Asn223Ser)
c.1022A>G (p.Asn341Ser)
c.347-76180A>G (n.347-76180A>G)
c.676A>G
c.845A>G (p.Asn282Ser)
n.661A>G
c.848A>G (p.Asn283Ser)
c.599A>G (p.Asn200Ser)
2g.199348852T>GCA350387526SATB2c.668A>C (p.Asn223Thr)
c.1022A>C (p.Asn341Thr)
c.347-76180A>C (n.347-76180A>C)
c.676A>C
c.845A>C (p.Asn282Thr)
n.661A>C
c.848A>C (p.Asn283Thr)
c.599A>C (p.Asn200Thr)
2g.199348853T>ACA350387528SATB2c.667A>T (p.Asn223Tyr)
c.1021A>T (p.Asn341Tyr)
c.347-76181A>T (n.347-76181A>T)
c.675A>T
c.844A>T (p.Asn282Tyr)
n.660A>T
c.847A>T (p.Asn283Tyr)
c.598A>T (p.Asn200Tyr)
2g.199348853T>CCA350387530SATB2c.667A>G (p.Asn223Asp)
c.1021A>G (p.Asn341Asp)
c.347-76181A>G (n.347-76181A>G)
c.675A>G
c.844A>G (p.Asn282Asp)
n.660A>G
c.847A>G (p.Asn283Asp)
c.598A>G (p.Asn200Asp)
2g.199348853T>GCA350387531SATB2c.667A>C (p.Asn223His)
c.1021A>C (p.Asn341His)
c.347-76181A>C (n.347-76181A>C)
c.675A>C
c.844A>C (p.Asn282His)
n.660A>C
c.847A>C (p.Asn283His)
c.598A>C (p.Asn200His)
2g.199348854C>ACA430835215SATB2c.666G>T (p.Leu222=)
c.1020G>T (p.Leu340=)
c.347-76182G>T (n.347-76182G>T)
c.674G>T
c.843G>T (p.Leu281=)
n.659G>T
c.846G>T (p.Leu282=)
c.597G>T (p.Leu199=)
2g.199348854C>GCA430835216SATB2c.666G>C (p.Leu222=)
c.1020G>C (p.Leu340=)
c.347-76182G>C (n.347-76182G>C)
c.674G>C
c.843G>C (p.Leu281=)
n.659G>C
c.846G>C (p.Leu282=)
c.597G>C (p.Leu199=)
2g.199348854C>TCA430835217SATB2c.666G>A (p.Leu222=)
c.1020G>A (p.Leu340=)
c.347-76182G>A (n.347-76182G>A)
c.674G>A
c.843G>A (p.Leu281=)
n.659G>A
c.846G>A (p.Leu282=)
c.597G>A (p.Leu199=)
2g.199348855delCA2739279404SATB2c.665del (p.Leu222ArgfsTer?)
c.1019del (p.Leu340ArgfsTer?)
c.347-76183del (n.347-76183del)
c.673del
c.842del (p.Leu281ArgfsTer?)
n.658del
c.845del (p.Leu282ArgfsTer?)
c.596del (p.Leu199ArgfsTer?)
 ClinVar
2g.199348855A>CCA350387533SATB2c.665T>G (p.Leu222Arg)
c.1019T>G (p.Leu340Arg)
c.347-76183T>G (n.347-76183T>G)
c.673T>G
c.842T>G (p.Leu281Arg)
n.658T>G
c.845T>G (p.Leu282Arg)
c.596T>G (p.Leu199Arg)
2g.199348855A>GCA350387534SATB2c.665T>C (p.Leu222Pro)
c.1019T>C (p.Leu340Pro)
c.347-76183T>C (n.347-76183T>C)
c.673T>C
c.842T>C (p.Leu281Pro)
n.658T>C
c.845T>C (p.Leu282Pro)
c.596T>C (p.Leu199Pro)
2g.199348855A>TCA350387537SATB2c.665T>A (p.Leu222Gln)
c.1019T>A (p.Leu340Gln)
c.347-76183T>A (n.347-76183T>A)
c.673T>A
c.842T>A (p.Leu281Gln)
n.658T>A
c.845T>A (p.Leu282Gln)
c.596T>A (p.Leu199Gln)
2g.199348856G>ACA430835219SATB2c.664C>T (p.Leu222=)
c.1018C>T (p.Leu340=)
c.347-76184C>T (n.347-76184C>T)
c.672C>T
c.841C>T (p.Leu281=)
n.657C>T
c.844C>T (p.Leu282=)
c.595C>T (p.Leu199=)
2g.199348856G>CCA350387538SATB2c.664C>G (p.Leu222Val)
c.1018C>G (p.Leu340Val)
c.347-76184C>G (n.347-76184C>G)
c.672C>G
c.841C>G (p.Leu281Val)
n.657C>G
c.844C>G (p.Leu282Val)
c.595C>G (p.Leu199Val)
2g.199348856G>TCA350387539SATB2c.664C>A (p.Leu222Met)
c.1018C>A (p.Leu340Met)
c.347-76184C>A (n.347-76184C>A)
c.672C>A
c.841C>A (p.Leu281Met)
n.657C>A
c.844C>A (p.Leu282Met)
c.595C>A (p.Leu199Met)
2g.199348857G>ACA430835224SATB2c.663C>T (p.Phe221=)
c.1017C>T (p.Phe339=)
c.347-76185C>T (n.347-76185C>T)
c.671C>T
c.840C>T (p.Phe280=)
n.656C>T
c.843C>T (p.Phe281=)
c.594C>T (p.Phe198=)
2g.199348857G>CCA350387541SATB2c.663C>G (p.Phe221Leu)
c.1017C>G (p.Phe339Leu)
c.347-76185C>G (n.347-76185C>G)
c.671C>G
c.840C>G (p.Phe280Leu)
n.656C>G
c.843C>G (p.Phe281Leu)
c.594C>G (p.Phe198Leu)
2g.199348857G>TCA350387543SATB2c.663C>A (p.Phe221Leu)
c.1017C>A (p.Phe339Leu)
c.347-76185C>A (n.347-76185C>A)
c.671C>A
c.840C>A (p.Phe280Leu)
n.656C>A
c.843C>A (p.Phe281Leu)
c.594C>A (p.Phe198Leu)
2g.199348858A>CCA350387545SATB2c.662T>G (p.Phe221Cys)
c.1016T>G (p.Phe339Cys)
c.347-76186T>G (n.347-76186T>G)
c.670T>G
c.839T>G (p.Phe280Cys)
n.655T>G
c.842T>G (p.Phe281Cys)
c.593T>G (p.Phe198Cys)
2g.199348858A>GCA350387547SATB2c.662T>C (p.Phe221Ser)
c.1016T>C (p.Phe339Ser)
c.347-76186T>C (n.347-76186T>C)
c.670T>C
c.839T>C (p.Phe280Ser)
n.655T>C
c.842T>C (p.Phe281Ser)
c.593T>C (p.Phe198Ser)
2g.199348858A>TCA350387546SATB2c.662T>A (p.Phe221Tyr)
c.1016T>A (p.Phe339Tyr)
c.347-76186T>A (n.347-76186T>A)
c.670T>A
c.839T>A (p.Phe280Tyr)
n.655T>A
c.842T>A (p.Phe281Tyr)
c.593T>A (p.Phe198Tyr)
2g.199348859delCA2580065414SATB2c.662del (p.Phe221SerfsTer2)
c.1016del (p.Phe339SerfsTer2)
c.347-76186del (n.347-76186del)
c.670del
c.839del (p.Phe280SerfsTer2)
n.655del
c.842del (p.Phe281SerfsTer2)
c.593del (p.Phe198SerfsTer2)
 ClinVar
2g.199348859A>CCA350387549SATB2c.661T>G (p.Phe221Val)
c.1015T>G (p.Phe339Val)
c.347-76187T>G (n.347-76187T>G)
c.669T>G
c.838T>G (p.Phe280Val)
n.654T>G
c.841T>G (p.Phe281Val)
c.592T>G (p.Phe198Val)
2g.199348859A>GCA350387551SATB2c.661T>C (p.Phe221Leu)
c.1015T>C (p.Phe339Leu)
c.347-76187T>C (n.347-76187T>C)
c.669T>C
c.838T>C (p.Phe280Leu)
n.654T>C
c.841T>C (p.Phe281Leu)
c.592T>C (p.Phe198Leu)
2g.199348859A>TCA350387552SATB2c.661T>A (p.Phe221Ile)
c.1015T>A (p.Phe339Ile)
c.347-76187T>A (n.347-76187T>A)
c.669T>A
c.838T>A (p.Phe280Ile)
n.654T>A
c.841T>A (p.Phe281Ile)
c.592T>A (p.Phe198Ile)
2g.199348860C>ACA350387554SATB2c.660G>T (p.Gln220His)
c.1014G>T (p.Gln338His)
c.347-76188G>T (n.347-76188G>T)
c.668G>T
c.837G>T (p.Gln279His)
n.653G>T
c.840G>T (p.Gln280His)
c.591G>T (p.Gln197His)
 dbSNP
2g.199348860C=CA1320151665SATB2c.660G= (p.Gln220=)
c.1014G= (p.Gln338=)
c.347-76188G= (n.347-76188G=)
c.668G=
c.837G= (p.Gln279=)
n.653G=
c.840G= (p.Gln280=)
c.591G= (p.Gln197=)
2g.199348860C>GCA350387555SATB2c.660G>C (p.Gln220His)
c.1014G>C (p.Gln338His)
c.347-76188G>C (n.347-76188G>C)
c.668G>C
c.837G>C (p.Gln279His)
n.653G>C
c.840G>C (p.Gln280His)
c.591G>C (p.Gln197His)
2g.199348860C>TCA430835230SATB2c.660G>A (p.Gln220=)
c.1014G>A (p.Gln338=)
c.347-76188G>A (n.347-76188G>A)
c.668G>A
c.837G>A (p.Gln279=)
n.653G>A
c.840G>A (p.Gln280=)
c.591G>A (p.Gln197=)
2g.199348861T>ACA350387557SATB2c.659A>T (p.Gln220Leu)
c.1013A>T (p.Gln338Leu)
c.347-76189A>T (n.347-76189A>T)
c.667A>T
c.836A>T (p.Gln279Leu)
n.652A>T
c.839A>T (p.Gln280Leu)
c.590A>T (p.Gln197Leu)
2g.199348861T>CCA350387559SATB2c.659A>G (p.Gln220Arg)
c.1013A>G (p.Gln338Arg)
c.347-76189A>G (n.347-76189A>G)
c.667A>G
c.836A>G (p.Gln279Arg)
n.652A>G
c.839A>G (p.Gln280Arg)
c.590A>G (p.Gln197Arg)
2g.199348861T>GCA350387561SATB2c.659A>C (p.Gln220Pro)
c.1013A>C (p.Gln338Pro)
c.347-76189A>C (n.347-76189A>C)
c.667A>C
c.836A>C (p.Gln279Pro)
n.652A>C
c.839A>C (p.Gln280Pro)
c.590A>C (p.Gln197Pro)
2g.199348862G>ACA350387562SATB2c.658C>T (p.Gln220Ter)
c.1012C>T (p.Gln338Ter)
c.347-76190C>T (n.347-76190C>T)
c.666C>T
c.835C>T (p.Gln279Ter)
n.651C>T
c.838C>T (p.Gln280Ter)
c.589C>T (p.Gln197Ter)
2g.199348862G>CCA350387563SATB2c.658C>G (p.Gln220Glu)
c.1012C>G (p.Gln338Glu)
c.347-76190C>G (n.347-76190C>G)
c.666C>G
c.835C>G (p.Gln279Glu)
n.651C>G
c.838C>G (p.Gln280Glu)
c.589C>G (p.Gln197Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.199348862G=CA1320151666SATB2c.658C= (p.Gln220=)
c.1012C= (p.Gln338=)
c.347-76190C= (n.347-76190C=)
c.666C=
c.835C= (p.Gln279=)
n.651C=
c.838C= (p.Gln280=)
c.589C= (p.Gln197=)
2g.199348862G>TCA350387565SATB2c.658C>A (p.Gln220Lys)
c.1012C>A (p.Gln338Lys)
c.347-76190C>A (n.347-76190C>A)
c.666C>A
c.835C>A (p.Gln279Lys)
n.651C>A
c.838C>A (p.Gln280Lys)
c.589C>A (p.Gln197Lys)
2g.199348863C>ACA350387568SATB2c.657G>T (p.Gln219His)
c.1011G>T (p.Gln337His)
c.347-76191G>T (n.347-76191G>T)
c.665G>T
c.834G>T (p.Gln278His)
n.650G>T
c.837G>T (p.Gln279His)
c.588G>T (p.Gln196His)
2g.199348863C>GCA350387567SATB2c.657G>C (p.Gln219His)
c.1011G>C (p.Gln337His)
c.347-76191G>C (n.347-76191G>C)
c.665G>C
c.834G>C (p.Gln278His)
n.650G>C
c.837G>C (p.Gln279His)
c.588G>C (p.Gln196His)
2g.199348863C>TCA430835233SATB2c.657G>A (p.Gln219=)
c.1011G>A (p.Gln337=)
c.347-76191G>A (n.347-76191G>A)
c.665G>A
c.834G>A (p.Gln278=)
n.650G>A
c.837G>A (p.Gln279=)
c.588G>A (p.Gln196=)
2g.199348864T>ACA350387570SATB2c.656A>T (p.Gln219Leu)
c.1010A>T (p.Gln337Leu)
c.347-76192A>T (n.347-76192A>T)
c.664A>T
c.833A>T (p.Gln278Leu)
n.649A>T
c.836A>T (p.Gln279Leu)
c.587A>T (p.Gln196Leu)
2g.199348864T>CCA350387572SATB2c.656A>G (p.Gln219Arg)
c.1010A>G (p.Gln337Arg)
c.347-76192A>G (n.347-76192A>G)
c.664A>G
c.833A>G (p.Gln278Arg)
n.649A>G
c.836A>G (p.Gln279Arg)
c.587A>G (p.Gln196Arg)
 gnomAD v4
2g.199348864T>GCA350387574SATB2c.656A>C (p.Gln219Pro)
c.1010A>C (p.Gln337Pro)
c.347-76192A>C (n.347-76192A>C)
c.664A>C
c.833A>C (p.Gln278Pro)
n.649A>C
c.836A>C (p.Gln279Pro)
c.587A>C (p.Gln196Pro)
2g.199348864dupCA2586970963SATB2c.656dup (p.Gln220AlafsTer13)
c.1010dup (p.Gln338AlafsTer13)
c.347-76192dup (n.347-76192dup)
c.664dup
c.833dup (p.Gln279AlafsTer13)
n.649dup
c.836dup (p.Gln280AlafsTer13)
c.587dup (p.Gln197AlafsTer13)
2g.199348865G>ACA350387575SATB2c.655C>T (p.Gln219Ter)
c.1009C>T (p.Gln337Ter)
c.347-76193C>T (n.347-76193C>T)
c.663C>T
c.832C>T (p.Gln278Ter)
n.648C>T
c.835C>T (p.Gln279Ter)
c.586C>T (p.Gln196Ter)
2g.199348865G>CCA350387577SATB2c.655C>G (p.Gln219Glu)
c.1009C>G (p.Gln337Glu)
c.347-76193C>G (n.347-76193C>G)
c.663C>G
c.832C>G (p.Gln278Glu)
n.648C>G
c.835C>G (p.Gln279Glu)
c.586C>G (p.Gln196Glu)
2g.199348865G>TCA350387578SATB2c.655C>A (p.Gln219Lys)
c.1009C>A (p.Gln337Lys)
c.347-76193C>A (n.347-76193C>A)
c.663C>A
c.832C>A (p.Gln278Lys)
n.648C>A
c.835C>A (p.Gln279Lys)
c.586C>A (p.Gln196Lys)
2g.199348866G>ACA430835239SATB2c.654C>T (p.Asn218=)
c.1008C>T (p.Asn336=)
c.347-76194C>T (n.347-76194C>T)
c.662C>T
c.831C>T (p.Asn277=)
n.647C>T
c.834C>T (p.Asn278=)
c.585C>T (p.Asn195=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.199348866G>CCA350387580SATB2c.654C>G (p.Asn218Lys)
c.1008C>G (p.Asn336Lys)
c.347-76194C>G (n.347-76194C>G)
c.662C>G
c.831C>G (p.Asn277Lys)
n.647C>G
c.834C>G (p.Asn278Lys)
c.585C>G (p.Asn195Lys)
2g.199348866G=CA1320151667SATB2c.654C= (p.Asn218=)
c.1008C= (p.Asn336=)
c.347-76194C= (n.347-76194C=)
c.662C=
c.831C= (p.Asn277=)
n.647C=
c.834C= (p.Asn278=)
c.585C= (p.Asn195=)
2g.199348866G>TCA350387582SATB2c.654C>A (p.Asn218Lys)
c.1008C>A (p.Asn336Lys)
c.347-76194C>A (n.347-76194C>A)
c.662C>A
c.831C>A (p.Asn277Lys)
n.647C>A
c.834C>A (p.Asn278Lys)
c.585C>A (p.Asn195Lys)
2g.199348867T>ACA350387584SATB2c.653A>T (p.Asn218Ile)
c.1007A>T (p.Asn336Ile)
c.347-76195A>T (n.347-76195A>T)
c.661A>T
c.830A>T (p.Asn277Ile)
n.646A>T
c.833A>T (p.Asn278Ile)
c.584A>T (p.Asn195Ile)
2g.199348867T>CCA350387587SATB2c.653A>G (p.Asn218Ser)
c.1007A>G (p.Asn336Ser)
c.347-76195A>G (n.347-76195A>G)
c.661A>G
c.830A>G (p.Asn277Ser)
n.646A>G
c.833A>G (p.Asn278Ser)
c.584A>G (p.Asn195Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.199348867T>GCA350387586SATB2c.653A>C (p.Asn218Thr)
c.1007A>C (p.Asn336Thr)
c.347-76195A>C (n.347-76195A>C)
c.661A>C
c.830A>C (p.Asn277Thr)
n.646A>C
c.833A>C (p.Asn278Thr)
c.584A>C (p.Asn195Thr)
2g.199348867T=CA1320151668SATB2c.653A= (p.Asn218=)
c.1007A= (p.Asn336=)
c.347-76195A= (n.347-76195A=)
c.661A=
c.830A= (p.Asn277=)
n.646A=
c.833A= (p.Asn278=)
c.584A= (p.Asn195=)
2g.199348868T>ACA350387589SATB2c.652A>T (p.Asn218Tyr)
c.1006A>T (p.Asn336Tyr)
c.347-76196A>T (n.347-76196A>T)
c.660A>T
c.829A>T (p.Asn277Tyr)
n.645A>T
c.832A>T (p.Asn278Tyr)
c.583A>T (p.Asn195Tyr)
2g.199348868T>CCA350387591SATB2c.652A>G (p.Asn218Asp)
c.1006A>G (p.Asn336Asp)
c.347-76196A>G (n.347-76196A>G)
c.660A>G
c.829A>G (p.Asn277Asp)
n.645A>G
c.832A>G (p.Asn278Asp)
c.583A>G (p.Asn195Asp)
2g.199348868T>GCA350387593SATB2c.652A>C (p.Asn218His)
c.1006A>C (p.Asn336His)
c.347-76196A>C (n.347-76196A>C)
c.660A>C
c.829A>C (p.Asn277His)
n.645A>C
c.832A>C (p.Asn278His)
c.583A>C (p.Asn195His)
2g.199348869G>ACA430835220SATB2c.651C>T (p.Ile217=)
c.1005C>T (p.Ile335=)
c.347-76197C>T (n.347-76197C>T)
c.659C>T
c.828C>T (p.Ile276=)
n.644C>T
c.831C>T (p.Ile277=)
c.582C>T (p.Ile194=)
 ClinVar dbSNP COSMIC
2g.199348869G>CCA350387594SATB2c.651C>G (p.Ile217Met)
c.1005C>G (p.Ile335Met)
c.347-76197C>G (n.347-76197C>G)
c.659C>G
c.828C>G (p.Ile276Met)
n.644C>G
c.831C>G (p.Ile277Met)
c.582C>G (p.Ile194Met)
2g.199348869G>TCA430835222SATB2c.651C>A (p.Ile217=)
c.1005C>A (p.Ile335=)
c.347-76197C>A (n.347-76197C>A)
c.659C>A
c.828C>A (p.Ile276=)
n.644C>A
c.831C>A (p.Ile277=)
c.582C>A (p.Ile194=)
2g.199348870A>CCA350387596SATB2c.650T>G (p.Ile217Ser)
c.1004T>G (p.Ile335Ser)
c.347-76198T>G (n.347-76198T>G)
c.658T>G
c.827T>G (p.Ile276Ser)
n.643T>G
c.830T>G (p.Ile277Ser)
c.581T>G (p.Ile194Ser)
2g.199348870A>GCA350387599SATB2c.650T>C (p.Ile217Thr)
c.1004T>C (p.Ile335Thr)
c.347-76198T>C (n.347-76198T>C)
c.658T>C
c.827T>C (p.Ile276Thr)
n.643T>C
c.830T>C (p.Ile277Thr)
c.581T>C (p.Ile194Thr)
2g.199348870A>TCA350387597SATB2c.650T>A (p.Ile217Asn)
c.1004T>A (p.Ile335Asn)
c.347-76198T>A (n.347-76198T>A)
c.658T>A
c.827T>A (p.Ile276Asn)
n.643T>A
c.830T>A (p.Ile277Asn)
c.581T>A (p.Ile194Asn)
2g.199348871T>ACA350387600SATB2c.649A>T (p.Ile217Phe)
c.1003A>T (p.Ile335Phe)
c.347-76199A>T (n.347-76199A>T)
c.657A>T
c.826A>T (p.Ile276Phe)
n.642A>T
c.829A>T (p.Ile277Phe)
c.580A>T (p.Ile194Phe)
2g.199348871T>CCA350387602SATB2c.649A>G (p.Ile217Val)
c.1003A>G (p.Ile335Val)
c.347-76199A>G (n.347-76199A>G)
c.657A>G
c.826A>G (p.Ile276Val)
n.642A>G
c.829A>G (p.Ile277Val)
c.580A>G (p.Ile194Val)
 ClinVar gnomAD v4
2g.199348871T>GCA350387603SATB2c.649A>C (p.Ile217Leu)
c.1003A>C (p.Ile335Leu)
c.347-76199A>C (n.347-76199A>C)
c.657A>C
c.826A>C (p.Ile276Leu)
n.642A>C
c.829A>C (p.Ile277Leu)
c.580A>C (p.Ile194Leu)
2g.199348872G>ACA430835226SATB2c.648C>T (p.Ala216=)
c.1002C>T (p.Ala334=)
c.347-76200C>T (n.347-76200C>T)
c.656C>T
c.825C>T (p.Ala275=)
n.641C>T
c.828C>T (p.Ala276=)
c.579C>T (p.Ala193=)
2g.199348872G>CCA430835227SATB2c.648C>G (p.Ala216=)
c.1002C>G (p.Ala334=)
c.347-76200C>G (n.347-76200C>G)
c.656C>G
c.825C>G (p.Ala275=)
n.641C>G
c.828C>G (p.Ala276=)
c.579C>G (p.Ala193=)
2g.199348872G>TCA430835228SATB2c.648C>A (p.Ala216=)
c.1002C>A (p.Ala334=)
c.347-76200C>A (n.347-76200C>A)
c.656C>A
c.825C>A (p.Ala275=)
n.641C>A
c.828C>A (p.Ala276=)
c.579C>A (p.Ala193=)
 gnomAD v4
2g.199348873G>ACA350387605SATB2c.647C>T (p.Ala216Val)
c.1001C>T (p.Ala334Val)
c.347-76201C>T (n.347-76201C>T)
c.655C>T
c.824C>T (p.Ala275Val)
n.640C>T
c.827C>T (p.Ala276Val)
c.578C>T (p.Ala193Val)
2g.199348873G>CCA350387607SATB2c.647C>G (p.Ala216Gly)
c.1001C>G (p.Ala334Gly)
c.347-76201C>G (n.347-76201C>G)
c.655C>G
c.824C>G (p.Ala275Gly)
n.640C>G
c.827C>G (p.Ala276Gly)
c.578C>G (p.Ala193Gly)
2g.199348873G=CA1320151669SATB2c.647C= (p.Ala216=)
c.1001C= (p.Ala334=)
c.347-76201C= (n.347-76201C=)
c.655C=
c.824C= (p.Ala275=)
n.640C=
c.827C= (p.Ala276=)
c.578C= (p.Ala193=)
2g.199348873G>TCA350387608SATB2c.647C>A (p.Ala216Asp)
c.1001C>A (p.Ala334Asp)
c.347-76201C>A (n.347-76201C>A)
c.655C>A
c.824C>A (p.Ala275Asp)
n.640C>A
c.827C>A (p.Ala276Asp)
c.578C>A (p.Ala193Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.199348874C>ACA350387610SATB2c.646G>T (p.Ala216Ser)
c.1000G>T (p.Ala334Ser)
c.347-76202G>T (n.347-76202G>T)
c.654G>T
c.823G>T (p.Ala275Ser)
n.639G>T
c.826G>T (p.Ala276Ser)
c.577G>T (p.Ala193Ser)
2g.199348874C=CA1320151670SATB2c.646G= (p.Ala216=)
c.1000G= (p.Ala334=)
c.347-76202G= (n.347-76202G=)
c.654G=
c.823G= (p.Ala275=)
n.639G=
c.826G= (p.Ala276=)
c.577G= (p.Ala193=)
2g.199348874C>GCA350387611SATB2c.646G>C (p.Ala216Pro)
c.1000G>C (p.Ala334Pro)
c.347-76202G>C (n.347-76202G>C)
c.654G>C
c.823G>C (p.Ala275Pro)
n.639G>C
c.826G>C (p.Ala276Pro)
c.577G>C (p.Ala193Pro)
2g.199348874C>TCA2045980SATB2c.646G>A (p.Ala216Thr)
c.1000G>A (p.Ala334Thr)
c.347-76202G>A (n.347-76202G>A)
c.654G>A
c.823G>A (p.Ala275Thr)
n.639G>A
c.826G>A (p.Ala276Thr)
c.577G>A (p.Ala193Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.199348875T>ACA350387614SATB2c.645A>T (p.Gln215His)
c.999A>T (p.Gln333His)
c.347-76203A>T (n.347-76203A>T)
c.653A>T
c.822A>T (p.Gln274His)
n.638A>T
c.825A>T (p.Gln275His)
c.576A>T (p.Gln192His)
2g.199348875T>CCA430835231SATB2c.645A>G (p.Gln215=)
c.999A>G (p.Gln333=)
c.347-76203A>G (n.347-76203A>G)
c.653A>G
c.822A>G (p.Gln274=)
n.638A>G
c.825A>G (p.Gln275=)
c.576A>G (p.Gln192=)
2g.199348875T>GCA350387615SATB2c.645A>C (p.Gln215His)
c.999A>C (p.Gln333His)
c.347-76203A>C (n.347-76203A>C)
c.653A>C
c.822A>C (p.Gln274His)
n.638A>C
c.825A>C (p.Gln275His)
c.576A>C (p.Gln192His)
2g.199348876T>ACA350387617SATB2c.644A>T (p.Gln215Leu)
c.998A>T (p.Gln333Leu)
c.347-76204A>T (n.347-76204A>T)
c.652A>T
c.821A>T (p.Gln274Leu)
n.637A>T
c.824A>T (p.Gln275Leu)
c.575A>T (p.Gln192Leu)
2g.199348876T>CCA350387620SATB2c.644A>G (p.Gln215Arg)
c.998A>G (p.Gln333Arg)
c.347-76204A>G (n.347-76204A>G)
c.652A>G
c.821A>G (p.Gln274Arg)
n.637A>G
c.824A>G (p.Gln275Arg)
c.575A>G (p.Gln192Arg)
2g.199348876T>GCA350387618SATB2c.644A>C (p.Gln215Pro)
c.998A>C (p.Gln333Pro)
c.347-76204A>C (n.347-76204A>C)
c.652A>C
c.821A>C (p.Gln274Pro)
n.637A>C
c.824A>C (p.Gln275Pro)
c.575A>C (p.Gln192Pro)
2g.199348877G>ACA350387621SATB2c.643C>T (p.Gln215Ter)
c.997C>T (p.Gln333Ter)
c.347-76205C>T (n.347-76205C>T)
c.651C>T
c.820C>T (p.Gln274Ter)
n.636C>T
c.823C>T (p.Gln275Ter)
c.574C>T (p.Gln192Ter)
 ClinVar dbSNP
2g.199348877G>CCA350387624SATB2c.643C>G (p.Gln215Glu)
c.997C>G (p.Gln333Glu)
c.347-76205C>G (n.347-76205C>G)
c.651C>G
c.820C>G (p.Gln274Glu)
n.636C>G
c.823C>G (p.Gln275Glu)
c.574C>G (p.Gln192Glu)
 dbSNP gnomAD v2
2g.199348877G=CA1320151671SATB2c.643C= (p.Gln215=)
c.997C= (p.Gln333=)
c.347-76205C= (n.347-76205C=)
c.651C=
c.820C= (p.Gln274=)
n.636C=
c.823C= (p.Gln275=)
c.574C= (p.Gln192=)
2g.199348877G>TCA350387622SATB2c.643C>A (p.Gln215Lys)
c.997C>A (p.Gln333Lys)
c.347-76205C>A (n.347-76205C>A)
c.651C>A
c.820C>A (p.Gln274Lys)
n.636C>A
c.823C>A (p.Gln275Lys)
c.574C>A (p.Gln192Lys)
2g.199348878A=CA1320151672SATB2c.642T= (p.Pro214=)
c.996T= (p.Pro332=)
c.347-76206T= (n.347-76206T=)
c.650T=
c.819T= (p.Pro273=)
n.635T=
c.822T= (p.Pro274=)
c.573T= (p.Pro191=)
2g.199348878A>CCA430835234SATB2c.642T>G (p.Pro214=)
c.996T>G (p.Pro332=)
c.347-76206T>G (n.347-76206T>G)
c.650T>G
c.819T>G (p.Pro273=)
n.635T>G
c.822T>G (p.Pro274=)
c.573T>G (p.Pro191=)
2g.199348878A>GCA430835236SATB2c.642T>C (p.Pro214=)
c.996T>C (p.Pro332=)
c.347-76206T>C (n.347-76206T>C)
c.650T>C
c.819T>C (p.Pro273=)
n.635T>C
c.822T>C (p.Pro274=)
c.573T>C (p.Pro191=)
2g.199348878A>TCA430835235SATB2c.642T>A (p.Pro214=)
c.996T>A (p.Pro332=)
c.347-76206T>A (n.347-76206T>A)
c.650T>A
c.819T>A (p.Pro273=)
n.635T>A
c.822T>A (p.Pro274=)
c.573T>A (p.Pro191=)
 ClinVar dbSNP gnomAD v4
2g.199348879G>ACA350387626SATB2c.641C>T (p.Pro214Leu)
c.995C>T (p.Pro332Leu)
c.347-76207C>T (n.347-76207C>T)
c.649C>T
c.818C>T (p.Pro273Leu)
n.634C>T
c.821C>T (p.Pro274Leu)
c.572C>T (p.Pro191Leu)
2g.199348879G>CCA350387627SATB2c.641C>G (p.Pro214Arg)
c.995C>G (p.Pro332Arg)
c.347-76207C>G (n.347-76207C>G)
c.649C>G
c.818C>G (p.Pro273Arg)
n.634C>G
c.821C>G (p.Pro274Arg)
c.572C>G (p.Pro191Arg)
2g.199348879G>TCA350387629SATB2c.641C>A (p.Pro214His)
c.995C>A (p.Pro332His)
c.347-76207C>A (n.347-76207C>A)
c.649C>A
c.818C>A (p.Pro273His)
n.634C>A
c.821C>A (p.Pro274His)
c.572C>A (p.Pro191His)
2g.199348880G>ACA350387630SATB2c.640C>T (p.Pro214Ser)
c.994C>T (p.Pro332Ser)
c.347-76208C>T (n.347-76208C>T)
c.648C>T
c.817C>T (p.Pro273Ser)
n.633C>T
c.820C>T (p.Pro274Ser)
c.571C>T (p.Pro191Ser)
2g.199348880G>CCA350387632SATB2c.640C>G (p.Pro214Ala)
c.994C>G (p.Pro332Ala)
c.347-76208C>G (n.347-76208C>G)
c.648C>G
c.817C>G (p.Pro273Ala)
n.633C>G
c.820C>G (p.Pro274Ala)
c.571C>G (p.Pro191Ala)
2g.199348880G>TCA350387634SATB2c.640C>A (p.Pro214Thr)
c.994C>A (p.Pro332Thr)
c.347-76208C>A (n.347-76208C>A)
c.648C>A
c.817C>A (p.Pro273Thr)
n.633C>A
c.820C>A (p.Pro274Thr)
c.571C>A (p.Pro191Thr)
 ClinVar
2g.199348881A>CCA350387636SATB2c.639T>G (p.His213Gln)
c.993T>G (p.His331Gln)
c.347-76209T>G (n.347-76209T>G)
c.647T>G
c.816T>G (p.His272Gln)
n.632T>G
c.819T>G (p.His273Gln)
c.570T>G (p.His190Gln)
2g.199348881A>GCA430835238SATB2c.639T>C (p.His213=)
c.993T>C (p.His331=)
c.347-76209T>C (n.347-76209T>C)
c.647T>C
c.816T>C (p.His272=)
n.632T>C
c.819T>C (p.His273=)
c.570T>C (p.His190=)
2g.199348881A>TCA350387637SATB2c.639T>A (p.His213Gln)
c.993T>A (p.His331Gln)
c.347-76209T>A (n.347-76209T>A)
c.647T>A
c.816T>A (p.His272Gln)
n.632T>A
c.819T>A (p.His273Gln)
c.570T>A (p.His190Gln)
2g.199348882T>ACA350387638SATB2c.638A>T (p.His213Leu)
c.992A>T (p.His331Leu)
c.347-76210A>T (n.347-76210A>T)
c.646A>T
c.815A>T (p.His272Leu)
n.631A>T
c.818A>T (p.His273Leu)
c.569A>T (p.His190Leu)
2g.199348882T>CCA350387640SATB2c.638A>G (p.His213Arg)
c.992A>G (p.His331Arg)
c.347-76210A>G (n.347-76210A>G)
c.646A>G
c.815A>G (p.His272Arg)
n.631A>G
c.818A>G (p.His273Arg)
c.569A>G (p.His190Arg)
2g.199348882T>GCA350387642SATB2c.638A>C (p.His213Pro)
c.992A>C (p.His331Pro)
c.347-76210A>C (n.347-76210A>C)
c.646A>C
c.815A>C (p.His272Pro)
n.631A>C
c.818A>C (p.His273Pro)
c.569A>C (p.His190Pro)
2g.199348883G>ACA350387646SATB2c.637C>T (p.His213Tyr)
c.991C>T (p.His331Tyr)
c.347-76211C>T (n.347-76211C>T)
c.645C>T
c.814C>T (p.His272Tyr)
n.630C>T
c.817C>T (p.His273Tyr)
c.568C>T (p.His190Tyr)
 gnomAD v4
2g.199348883G>CCA350387644SATB2c.637C>G (p.His213Asp)
c.991C>G (p.His331Asp)
c.347-76211C>G (n.347-76211C>G)
c.645C>G
c.814C>G (p.His272Asp)
n.630C>G
c.817C>G (p.His273Asp)
c.568C>G (p.His190Asp)
2g.199348883G>TCA350387645SATB2c.637C>A (p.His213Asn)
c.991C>A (p.His331Asn)
c.347-76211C>A (n.347-76211C>A)
c.645C>A
c.814C>A (p.His272Asn)
n.630C>A
c.817C>A (p.His273Asn)
c.568C>A (p.His190Asn)
2g.199348884C>ACA350387648SATB2c.636G>T (p.Gln212His)
c.990G>T (p.Gln330His)
c.347-76212G>T (n.347-76212G>T)
c.644G>T
c.813G>T (p.Gln271His)
n.629G>T
c.816G>T (p.Gln272His)
c.567G>T (p.Gln189His)
2g.199348884C>GCA350387650SATB2c.636G>C (p.Gln212His)
c.990G>C (p.Gln330His)
c.347-76212G>C (n.347-76212G>C)
c.644G>C
c.813G>C (p.Gln271His)
n.629G>C
c.816G>C (p.Gln272His)
c.567G>C (p.Gln189His)
2g.199348884C>TCA430835241SATB2c.636G>A (p.Gln212=)
c.990G>A (p.Gln330=)
c.347-76212G>A (n.347-76212G>A)
c.644G>A
c.813G>A (p.Gln271=)
n.629G>A
c.816G>A (p.Gln272=)
c.567G>A (p.Gln189=)
2g.199348885T>ACA350387652SATB2c.635A>T (p.Gln212Leu)
c.989A>T (p.Gln330Leu)
c.347-76213A>T (n.347-76213A>T)
c.643A>T
c.812A>T (p.Gln271Leu)
n.628A>T
c.815A>T (p.Gln272Leu)
c.566A>T (p.Gln189Leu)
2g.199348885T>CCA350387653SATB2c.635A>G (p.Gln212Arg)
c.989A>G (p.Gln330Arg)
c.347-76213A>G (n.347-76213A>G)
c.643A>G
c.812A>G (p.Gln271Arg)
n.628A>G
c.815A>G (p.Gln272Arg)
c.566A>G (p.Gln189Arg)
 dbSNP COSMIC
2g.199348885T>GCA350387654SATB2c.635A>C (p.Gln212Pro)
c.989A>C (p.Gln330Pro)
c.347-76213A>C (n.347-76213A>C)
c.643A>C
c.812A>C (p.Gln271Pro)
n.628A>C
c.815A>C (p.Gln272Pro)
c.566A>C (p.Gln189Pro)
2g.199348886G>ACA350387656SATB2c.634C>T (p.Gln212Ter)
c.988C>T (p.Gln330Ter)
c.347-76214C>T (n.347-76214C>T)
c.642C>T
c.811C>T (p.Gln271Ter)
n.627C>T
c.814C>T (p.Gln272Ter)
c.565C>T (p.Gln189Ter)
2g.199348886G>CCA350387658SATB2c.634C>G (p.Gln212Glu)
c.988C>G (p.Gln330Glu)
c.347-76214C>G (n.347-76214C>G)
c.642C>G
c.811C>G (p.Gln271Glu)
n.627C>G
c.814C>G (p.Gln272Glu)
c.565C>G (p.Gln189Glu)
2g.199348886G>TCA350387659SATB2c.634C>A (p.Gln212Lys)
c.988C>A (p.Gln330Lys)
c.347-76214C>A (n.347-76214C>A)
c.642C>A
c.811C>A (p.Gln271Lys)
n.627C>A
c.814C>A (p.Gln272Lys)
c.565C>A (p.Gln189Lys)
 gnomAD v4 COSMIC
2g.199348887G>ACA430835243SATB2c.633C>T (p.His211=)
c.987C>T (p.His329=)
c.347-76215C>T (n.347-76215C>T)
c.641C>T
c.810C>T (p.His270=)
n.626C>T
c.813C>T (p.His271=)
c.564C>T (p.His188=)
2g.199348887G>CCA350387661SATB2c.633C>G (p.His211Gln)
c.987C>G (p.His329Gln)
c.347-76215C>G (n.347-76215C>G)
c.641C>G
c.810C>G (p.His270Gln)
n.626C>G
c.813C>G (p.His271Gln)
c.564C>G (p.His188Gln)
2g.199348887G>TCA350387662SATB2c.633C>A (p.His211Gln)
c.987C>A (p.His329Gln)
c.347-76215C>A (n.347-76215C>A)
c.641C>A
c.810C>A (p.His270Gln)
n.626C>A
c.813C>A (p.His271Gln)
c.564C>A (p.His188Gln)
2g.199348888T>ACA350387668SATB2c.632A>T (p.His211Leu)
c.986A>T (p.His329Leu)
c.347-76216A>T (n.347-76216A>T)
c.640A>T
c.809A>T (p.His270Leu)
n.625A>T
c.812A>T (p.His271Leu)
c.563A>T (p.His188Leu)
2g.199348888T>CCA350387666SATB2c.632A>G (p.His211Arg)
c.986A>G (p.His329Arg)
c.347-76216A>G (n.347-76216A>G)
c.640A>G
c.809A>G (p.His270Arg)
n.625A>G
c.812A>G (p.His271Arg)
c.563A>G (p.His188Arg)
2g.199348888T>GCA350387664SATB2c.632A>C (p.His211Pro)
c.986A>C (p.His329Pro)
c.347-76216A>C (n.347-76216A>C)
c.640A>C
c.809A>C (p.His270Pro)
n.625A>C
c.812A>C (p.His271Pro)
c.563A>C (p.His188Pro)
 dbSNP
2g.199348888T=CA1320151673SATB2c.632A= (p.His211=)
c.986A= (p.His329=)
c.347-76216A= (n.347-76216A=)
c.640A=
c.809A= (p.His270=)
n.625A=
c.812A= (p.His271=)
c.563A= (p.His188=)
2g.199348889G>ACA350387669SATB2c.631C>T (p.His211Tyr)
c.985C>T (p.His329Tyr)
c.347-76217C>T (n.347-76217C>T)
c.639C>T
c.808C>T (p.His270Tyr)
n.624C>T
c.811C>T (p.His271Tyr)
c.562C>T (p.His188Tyr)
 gnomAD v4
2g.199348889G>CCA350387671SATB2c.631C>G (p.His211Asp)
c.985C>G (p.His329Asp)
c.347-76217C>G (n.347-76217C>G)
c.639C>G
c.808C>G (p.His270Asp)
n.624C>G
c.811C>G (p.His271Asp)
c.562C>G (p.His188Asp)
2g.199348889G>TCA350387672SATB2c.631C>A (p.His211Asn)
c.985C>A (p.His329Asn)
c.347-76217C>A (n.347-76217C>A)
c.639C>A
c.808C>A (p.His270Asn)
n.624C>A
c.811C>A (p.His271Asn)
c.562C>A (p.His188Asn)
2g.199348890A>CCA430835244SATB2c.630T>G (p.Ala210=)
c.984T>G (p.Ala328=)
c.347-76218T>G (n.347-76218T>G)
c.638T>G
c.807T>G (p.Ala269=)
n.623T>G
c.810T>G (p.Ala270=)
c.561T>G (p.Ala187=)
2g.199348890A>GCA430835246SATB2c.630T>C (p.Ala210=)
c.984T>C (p.Ala328=)
c.347-76218T>C (n.347-76218T>C)
c.638T>C
c.807T>C (p.Ala269=)
n.623T>C
c.810T>C (p.Ala270=)
c.561T>C (p.Ala187=)
 gnomAD v4
2g.199348890A>TCA430835245SATB2c.630T>A (p.Ala210=)
c.984T>A (p.Ala328=)
c.347-76218T>A (n.347-76218T>A)
c.638T>A
c.807T>A (p.Ala269=)
n.623T>A
c.810T>A (p.Ala270=)
c.561T>A (p.Ala187=)
2g.199348891G>ACA350387674SATB2c.629C>T (p.Ala210Val)
c.983C>T (p.Ala328Val)
c.347-76219C>T (n.347-76219C>T)
c.637C>T
c.806C>T (p.Ala269Val)
n.622C>T
c.809C>T (p.Ala270Val)
c.560C>T (p.Ala187Val)
2g.199348891G>CCA350387676SATB2c.629C>G (p.Ala210Gly)
c.983C>G (p.Ala328Gly)
c.347-76219C>G (n.347-76219C>G)
c.637C>G
c.806C>G (p.Ala269Gly)
n.622C>G
c.809C>G (p.Ala270Gly)
c.560C>G (p.Ala187Gly)
2g.199348891G>TCA350387678SATB2c.629C>A (p.Ala210Asp)
c.983C>A (p.Ala328Asp)
c.347-76219C>A (n.347-76219C>A)
c.637C>A
c.806C>A (p.Ala269Asp)
n.622C>A
c.809C>A (p.Ala270Asp)
c.560C>A (p.Ala187Asp)
 ClinVar dbSNP gnomAD v4
2g.199348892C>ACA350387680SATB2c.628G>T (p.Ala210Ser)
c.982G>T (p.Ala328Ser)
c.347-76220G>T (n.347-76220G>T)
c.636G>T
c.805G>T (p.Ala269Ser)
n.621G>T
c.808G>T (p.Ala270Ser)
c.559G>T (p.Ala187Ser)
 ClinVar gnomAD v4
2g.199348892C>GCA350387682SATB2c.628G>C (p.Ala210Pro)
c.982G>C (p.Ala328Pro)
c.347-76220G>C (n.347-76220G>C)
c.636G>C
c.805G>C (p.Ala269Pro)
n.621G>C
c.808G>C (p.Ala270Pro)
c.559G>C (p.Ala187Pro)
 gnomAD v4
2g.199348892C>TCA350387683SATB2c.628G>A (p.Ala210Thr)
c.982G>A (p.Ala328Thr)
c.347-76220G>A (n.347-76220G>A)
c.636G>A
c.805G>A (p.Ala269Thr)
n.621G>A
c.808G>A (p.Ala270Thr)
c.559G>A (p.Ala187Thr)
2g.199348893C>ACA430835250SATB2c.627G>T (p.Leu209=)
c.981G>T (p.Leu327=)
c.347-76221G>T (n.347-76221G>T)
c.635G>T
c.804G>T (p.Leu268=)
n.620G>T
c.807G>T (p.Leu269=)
c.558G>T (p.Leu186=)
2g.199348893C>GCA430835249SATB2c.627G>C (p.Leu209=)
c.981G>C (p.Leu327=)
c.347-76221G>C (n.347-76221G>C)
c.635G>C
c.804G>C (p.Leu268=)
n.620G>C
c.807G>C (p.Leu269=)
c.558G>C (p.Leu186=)
2g.199348893C>TCA430835248SATB2c.627G>A (p.Leu209=)
c.981G>A (p.Leu327=)
c.347-76221G>A (n.347-76221G>A)
c.635G>A
c.804G>A (p.Leu268=)
n.620G>A
c.807G>A (p.Leu269=)
c.558G>A (p.Leu186=)
2g.199348894A>CCA350387685SATB2c.626T>G (p.Leu209Arg)
c.980T>G (p.Leu327Arg)
c.347-76222T>G (n.347-76222T>G)
c.634T>G
c.803T>G (p.Leu268Arg)
n.619T>G
c.806T>G (p.Leu269Arg)
c.557T>G (p.Leu186Arg)
2g.199348894A>GCA350387686SATB2c.626T>C (p.Leu209Pro)
c.980T>C (p.Leu327Pro)
c.347-76222T>C (n.347-76222T>C)
c.634T>C
c.803T>C (p.Leu268Pro)
n.619T>C
c.806T>C (p.Leu269Pro)
c.557T>C (p.Leu186Pro)
2g.199348894A>TCA350387687SATB2c.626T>A (p.Leu209Gln)
c.980T>A (p.Leu327Gln)
c.347-76222T>A (n.347-76222T>A)
c.634T>A
c.803T>A (p.Leu268Gln)
n.619T>A
c.806T>A (p.Leu269Gln)
c.557T>A (p.Leu186Gln)
2g.199348895G>ACA430835251SATB2c.625C>T (p.Leu209=)
c.979C>T (p.Leu327=)
c.347-76223C>T (n.347-76223C>T)
c.633C>T
c.802C>T (p.Leu268=)
n.618C>T
c.805C>T (p.Leu269=)
c.556C>T (p.Leu186=)
2g.199348895G>CCA350387691SATB2c.625C>G (p.Leu209Val)
c.979C>G (p.Leu327Val)
c.347-76223C>G (n.347-76223C>G)
c.633C>G
c.802C>G (p.Leu268Val)
n.618C>G
c.805C>G (p.Leu269Val)
c.556C>G (p.Leu186Val)
2g.199348895G>TCA350387690SATB2c.625C>A (p.Leu209Met)
c.979C>A (p.Leu327Met)
c.347-76223C>A (n.347-76223C>A)
c.633C>A
c.802C>A (p.Leu268Met)
n.618C>A
c.805C>A (p.Leu269Met)
c.556C>A (p.Leu186Met)
2g.199348896G>ACA430835252SATB2c.624C>T (p.Leu208=)
c.978C>T (p.Leu326=)
c.347-76224C>T (n.347-76224C>T)
c.632C>T
c.801C>T (p.Leu267=)
n.617C>T
c.804C>T (p.Leu268=)
c.555C>T (p.Leu185=)
 dbSNP gnomAD v4 COSMIC
2g.199348896G>CCA430835254SATB2c.624C>G (p.Leu208=)
c.978C>G (p.Leu326=)
c.347-76224C>G (n.347-76224C>G)
c.632C>G
c.801C>G (p.Leu267=)
n.617C>G
c.804C>G (p.Leu268=)
c.555C>G (p.Leu185=)
 gnomAD v4
2g.199348896G=CA1320151674SATB2c.624C= (p.Leu208=)
c.978C= (p.Leu326=)
c.347-76224C= (n.347-76224C=)
c.632C=
c.801C= (p.Leu267=)
n.617C=
c.804C= (p.Leu268=)
c.555C= (p.Leu185=)
2g.199348896G>TCA430835253SATB2c.624C>A (p.Leu208=)
c.978C>A (p.Leu326=)
c.347-76224C>A (n.347-76224C>A)
c.632C>A
c.801C>A (p.Leu267=)
n.617C>A
c.804C>A (p.Leu268=)
c.555C>A (p.Leu185=)
 ClinVar
2g.199348897A>CCA350387693SATB2c.623T>G (p.Leu208Arg)
c.977T>G (p.Leu326Arg)
c.347-76225T>G (n.347-76225T>G)
c.631T>G
c.800T>G (p.Leu267Arg)
n.616T>G
c.803T>G (p.Leu268Arg)
c.554T>G (p.Leu185Arg)
2g.199348897A>GCA350387695SATB2c.623T>C (p.Leu208Pro)
c.977T>C (p.Leu326Pro)
c.347-76225T>C (n.347-76225T>C)
c.631T>C
c.800T>C (p.Leu267Pro)
n.616T>C
c.803T>C (p.Leu268Pro)
c.554T>C (p.Leu185Pro)
2g.199348897A>TCA350387696SATB2c.623T>A (p.Leu208His)
c.977T>A (p.Leu326His)
c.347-76225T>A (n.347-76225T>A)
c.631T>A
c.800T>A (p.Leu267His)
n.616T>A
c.803T>A (p.Leu268His)
c.554T>A (p.Leu185His)
2g.199348898G>ACA350387698SATB2c.622C>T (p.Leu208Phe)
c.976C>T (p.Leu326Phe)
c.347-76226C>T (n.347-76226C>T)
c.630C>T
c.799C>T (p.Leu267Phe)
n.615C>T
c.802C>T (p.Leu268Phe)
c.553C>T (p.Leu185Phe)
2g.199348898G>CCA350387700SATB2c.622C>G (p.Leu208Val)
c.976C>G (p.Leu326Val)
c.347-76226C>G (n.347-76226C>G)
c.630C>G
c.799C>G (p.Leu267Val)
n.615C>G
c.802C>G (p.Leu268Val)
c.553C>G (p.Leu185Val)
2g.199348898G>TCA350387701SATB2c.622C>A (p.Leu208Ile)
c.976C>A (p.Leu326Ile)
c.347-76226C>A (n.347-76226C>A)
c.630C>A
c.799C>A (p.Leu267Ile)
n.615C>A
c.802C>A (p.Leu268Ile)
c.553C>A (p.Leu185Ile)
2g.199348899C>ACA430835257SATB2c.621G>T (p.Arg207=)
c.975G>T (p.Arg325=)
c.347-76227G>T (n.347-76227G>T)
c.629G>T
c.798G>T (p.Arg266=)
n.614G>T
c.801G>T (p.Arg267=)
c.552G>T (p.Arg184=)
 gnomAD v4
2g.199348899C>GCA430835258SATB2c.621G>C (p.Arg207=)
c.975G>C (p.Arg325=)
c.347-76227G>C (n.347-76227G>C)
c.629G>C
c.798G>C (p.Arg266=)
n.614G>C
c.801G>C (p.Arg267=)
c.552G>C (p.Arg184=)
2g.199348899C>TCA430835259SATB2c.621G>A (p.Arg207=)
c.975G>A (p.Arg325=)
c.347-76227G>A (n.347-76227G>A)
c.629G>A
c.798G>A (p.Arg266=)
n.614G>A
c.801G>A (p.Arg267=)
c.552G>A (p.Arg184=)
 COSMIC
2g.199348900C>ACA350387703SATB2c.620G>T (p.Arg207Leu)
c.974G>T (p.Arg325Leu)
c.347-76228G>T (n.347-76228G>T)
c.628G>T
c.797G>T (p.Arg266Leu)
n.613G>T
c.800G>T (p.Arg267Leu)
c.551G>T (p.Arg184Leu)
 gnomAD v4
2g.199348900C=CA1320151675SATB2c.620G= (p.Arg207=)
c.974G= (p.Arg325=)
c.347-76228G= (n.347-76228G=)
c.628G=
c.797G= (p.Arg266=)
n.613G=
c.800G= (p.Arg267=)
c.551G= (p.Arg184=)
2g.199348900C>GCA350387704SATB2c.620G>C (p.Arg207Pro)
c.974G>C (p.Arg325Pro)
c.347-76228G>C (n.347-76228G>C)
c.628G>C
c.797G>C (p.Arg266Pro)
n.613G>C
c.800G>C (p.Arg267Pro)
c.551G>C (p.Arg184Pro)
2g.199348900C>TCA350387706SATB2c.620G>A (p.Arg207Gln)
c.974G>A (p.Arg325Gln)
c.347-76228G>A (n.347-76228G>A)
c.628G>A
c.797G>A (p.Arg266Gln)
n.613G>A
c.800G>A (p.Arg267Gln)
c.551G>A (p.Arg184Gln)
 ClinVar dbSNP gnomAD v4
2g.199348901G>ACA350387708SATB2c.619C>T (p.Arg207Trp)
c.973C>T (p.Arg325Trp)
c.347-76229C>T (n.347-76229C>T)
c.627C>T
c.796C>T (p.Arg266Trp)
n.612C>T
c.799C>T (p.Arg267Trp)
c.550C>T (p.Arg184Trp)
 gnomAD v4
2g.199348901G>CCA350387709SATB2c.619C>G (p.Arg207Gly)
c.973C>G (p.Arg325Gly)
c.347-76229C>G (n.347-76229C>G)
c.627C>G
c.796C>G (p.Arg266Gly)
n.612C>G
c.799C>G (p.Arg267Gly)
c.550C>G (p.Arg184Gly)
2g.199348901G>TCA430835260SATB2c.619C>A (p.Arg207=)
c.973C>A (p.Arg325=)
c.347-76229C>A (n.347-76229C>A)
c.627C>A
c.796C>A (p.Arg266=)
n.612C>A
c.799C>A (p.Arg267=)
c.550C>A (p.Arg184=)
2g.199348902G>ACA430835261SATB2c.618C>T (p.Ser206=)
c.972C>T (p.Ser324=)
c.347-76230C>T (n.347-76230C>T)
c.626C>T
c.795C>T (p.Ser265=)
n.611C>T
c.798C>T (p.Ser266=)
c.549C>T (p.Ser183=)
 ClinVar dbSNP gnomAD v4
2g.199348902G>CCA350387711SATB2c.618C>G (p.Ser206Arg)
c.972C>G (p.Ser324Arg)
c.347-76230C>G (n.347-76230C>G)
c.626C>G
c.795C>G (p.Ser265Arg)
n.611C>G
c.798C>G (p.Ser266Arg)
c.549C>G (p.Ser183Arg)
2g.199348902G=CA1320151676SATB2c.618C= (p.Ser206=)
c.972C= (p.Ser324=)
c.347-76230C= (n.347-76230C=)
c.626C=
c.795C= (p.Ser265=)
n.611C=
c.798C= (p.Ser266=)
c.549C= (p.Ser183=)
2g.199348902G>TCA350387713SATB2c.618C>A (p.Ser206Arg)
c.972C>A (p.Ser324Arg)
c.347-76230C>A (n.347-76230C>A)
c.626C>A
c.795C>A (p.Ser265Arg)
n.611C>A
c.798C>A (p.Ser266Arg)
c.549C>A (p.Ser183Arg)
2g.199348903C>ACA350387716SATB2c.617G>T (p.Ser206Ile)
c.971G>T (p.Ser324Ile)
c.347-76231G>T (n.347-76231G>T)
c.625G>T
c.794G>T (p.Ser265Ile)
n.610G>T
c.797G>T (p.Ser266Ile)
c.548G>T (p.Ser183Ile)
2g.199348903C>GCA350387717SATB2c.617G>C (p.Ser206Thr)
c.971G>C (p.Ser324Thr)
c.347-76231G>C (n.347-76231G>C)
c.625G>C
c.794G>C (p.Ser265Thr)
n.610G>C
c.797G>C (p.Ser266Thr)
c.548G>C (p.Ser183Thr)
2g.199348903C>TCA350387714SATB2c.617G>A (p.Ser206Asn)
c.971G>A (p.Ser324Asn)
c.347-76231G>A (n.347-76231G>A)
c.625G>A
c.794G>A (p.Ser265Asn)
n.610G>A
c.797G>A (p.Ser266Asn)
c.548G>A (p.Ser183Asn)
2g.199348904T>ACA350387722SATB2c.616A>T (p.Ser206Cys)
c.970A>T (p.Ser324Cys)
c.347-76232A>T (n.347-76232A>T)
c.624A>T
c.793A>T (p.Ser265Cys)
n.609A>T
c.796A>T (p.Ser266Cys)
c.547A>T (p.Ser183Cys)
2g.199348904T>CCA350387719SATB2c.616A>G (p.Ser206Gly)
c.970A>G (p.Ser324Gly)
c.347-76232A>G (n.347-76232A>G)
c.624A>G
c.793A>G (p.Ser265Gly)
n.609A>G
c.796A>G (p.Ser266Gly)
c.547A>G (p.Ser183Gly)
2g.199348904T>GCA350387721SATB2c.616A>C (p.Ser206Arg)
c.970A>C (p.Ser324Arg)
c.347-76232A>C (n.347-76232A>C)
c.624A>C
c.793A>C (p.Ser265Arg)
n.609A>C
c.796A>C (p.Ser266Arg)
c.547A>C (p.Ser183Arg)
2g.199348905A>CCA430835264SATB2c.615T>G (p.Val205=)
c.969T>G (p.Val323=)
c.347-76233T>G (n.347-76233T>G)
c.623T>G
c.792T>G (p.Val264=)
n.608T>G
c.795T>G (p.Val265=)
c.546T>G (p.Val182=)
2g.199348905A>GCA430835265SATB2c.615T>C (p.Val205=)
c.969T>C (p.Val323=)
c.347-76233T>C (n.347-76233T>C)
c.623T>C
c.792T>C (p.Val264=)
n.608T>C
c.795T>C (p.Val265=)
c.546T>C (p.Val182=)
2g.199348905A>TCA430835266SATB2c.615T>A (p.Val205=)
c.969T>A (p.Val323=)
c.347-76233T>A (n.347-76233T>A)
c.623T>A
c.792T>A (p.Val264=)
n.608T>A
c.795T>A (p.Val265=)
c.546T>A (p.Val182=)
 gnomAD v4
2g.199348906A>CCA350387724SATB2c.614T>G (p.Val205Gly)
c.968T>G (p.Val323Gly)
c.347-76234T>G (n.347-76234T>G)
c.622T>G
c.791T>G (p.Val264Gly)
n.607T>G
c.794T>G (p.Val265Gly)
c.545T>G (p.Val182Gly)
2g.199348906A>GCA350387725SATB2c.614T>C (p.Val205Ala)
c.968T>C (p.Val323Ala)
c.347-76234T>C (n.347-76234T>C)
c.622T>C
c.791T>C (p.Val264Ala)
n.607T>C
c.794T>C (p.Val265Ala)
c.545T>C (p.Val182Ala)
2g.199348906A>TCA350387727SATB2c.614T>A (p.Val205Asp)
c.968T>A (p.Val323Asp)
c.347-76234T>A (n.347-76234T>A)
c.622T>A
c.791T>A (p.Val264Asp)
n.607T>A
c.794T>A (p.Val265Asp)
c.545T>A (p.Val182Asp)
2g.199348907C>ACA350387729SATB2c.613G>T (p.Val205Phe)
c.967G>T (p.Val323Phe)
c.347-76235G>T (n.347-76235G>T)
c.621G>T
c.790G>T (p.Val264Phe)
n.606G>T
c.793G>T (p.Val265Phe)
c.544G>T (p.Val182Phe)
2g.199348907C=CA1320151677SATB2c.613G= (p.Val205=)
c.967G= (p.Val323=)
c.347-76235G= (n.347-76235G=)
c.621G=
c.790G= (p.Val264=)
n.606G=
c.793G= (p.Val265=)
c.544G= (p.Val182=)
2g.199348907C>GCA350387730SATB2c.613G>C (p.Val205Leu)
c.967G>C (p.Val323Leu)
c.347-76235G>C (n.347-76235G>C)
c.621G>C
c.790G>C (p.Val264Leu)
n.606G>C
c.793G>C (p.Val265Leu)
c.544G>C (p.Val182Leu)
2g.199348907C>TCA2045981SATB2c.613G>A (p.Val205Ile)
c.967G>A (p.Val323Ile)
c.347-76235G>A (n.347-76235G>A)
c.621G>A
c.790G>A (p.Val264Ile)
n.606G>A
c.793G>A (p.Val265Ile)
c.544G>A (p.Val182Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.199348908G>ACA2045982SATB2c.612C>T (p.Ala204=)
c.966C>T (p.Ala322=)
c.347-76236C>T (n.347-76236C>T)
c.620C>T
c.789C>T (p.Ala263=)
n.605C>T
c.792C>T (p.Ala264=)
c.543C>T (p.Ala181=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.199348908G>CCA430835270SATB2c.612C>G (p.Ala204=)
c.966C>G (p.Ala322=)
c.347-76236C>G (n.347-76236C>G)
c.620C>G
c.789C>G (p.Ala263=)
n.605C>G
c.792C>G (p.Ala264=)
c.543C>G (p.Ala181=)
2g.199348908G=CA1320151678SATB2c.612C= (p.Ala204=)
c.966C= (p.Ala322=)
c.347-76236C= (n.347-76236C=)
c.620C=
c.789C= (p.Ala263=)
n.605C=
c.792C= (p.Ala264=)
c.543C= (p.Ala181=)
2g.199348908G>TCA430835271SATB2c.612C>A (p.Ala204=)
c.966C>A (p.Ala322=)
c.347-76236C>A (n.347-76236C>A)
c.620C>A
c.789C>A (p.Ala263=)
n.605C>A
c.792C>A (p.Ala264=)
c.543C>A (p.Ala181=)
 ClinVar dbSNP gnomAD v4
2g.199348909G>ACA350387733SATB2c.611C>T (p.Ala204Val)
c.965C>T (p.Ala322Val)
c.347-76237C>T (n.347-76237C>T)
c.619C>T
c.788C>T (p.Ala263Val)
n.604C>T
c.791C>T (p.Ala264Val)
c.542C>T (p.Ala181Val)
 gnomAD v4
2g.199348909G>CCA350387735SATB2c.611C>G (p.Ala204Gly)
c.965C>G (p.Ala322Gly)
c.347-76237C>G (n.347-76237C>G)
c.619C>G
c.788C>G (p.Ala263Gly)
n.604C>G
c.791C>G (p.Ala264Gly)
c.542C>G (p.Ala181Gly)
2g.199348909G>TCA350387736SATB2c.611C>A (p.Ala204Asp)
c.965C>A (p.Ala322Asp)
c.347-76237C>A (n.347-76237C>A)
c.619C>A
c.788C>A (p.Ala263Asp)
n.604C>A
c.791C>A (p.Ala264Asp)
c.542C>A (p.Ala181Asp)
2g.199348910C>ACA350387742SATB2c.610G>T (p.Ala204Ser)
c.964G>T (p.Ala322Ser)
c.347-76238G>T (n.347-76238G>T)
c.618G>T
c.787G>T (p.Ala263Ser)
n.603G>T
c.790G>T (p.Ala264Ser)
c.541G>T (p.Ala181Ser)
2g.199348910C>GCA350387739SATB2c.610G>C (p.Ala204Pro)
c.964G>C (p.Ala322Pro)
c.347-76238G>C (n.347-76238G>C)
c.618G>C
c.787G>C (p.Ala263Pro)
n.603G>C
c.790G>C (p.Ala264Pro)
c.541G>C (p.Ala181Pro)
2g.199348910C>TCA350387740SATB2c.610G>A (p.Ala204Thr)
c.964G>A (p.Ala322Thr)
c.347-76238G>A (n.347-76238G>A)
c.618G>A
c.787G>A (p.Ala263Thr)
n.603G>A
c.790G>A (p.Ala264Thr)
c.541G>A (p.Ala181Thr)

Number of alleles fetched