Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.199348808_199348813del | CA2573051830 | SATB2 | c.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 |
2 | g.199348811T>A | CA350387380 | SATB2 | c.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) | |
2 | g.199348811T>C | CA350387379 | SATB2 | c.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) | |
2 | g.199348811T>G | CA350387378 | SATB2 | c.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 |
2 | g.199348812G>A | CA430835172 | SATB2 | c.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 |
2 | g.199348812G>C | CA430835173 | SATB2 | c.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 |
2 | g.199348812G= | CA1320151654 | SATB2 | c.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=) | |
2 | g.199348812G>T | CA430835174 | SATB2 | c.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=) | |
2 | g.199348813G>A | CA350387382 | SATB2 | c.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) | |
2 | g.199348813G>C | CA350387384 | SATB2 | c.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) | |
2 | g.199348813G>T | CA350387386 | SATB2 | c.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) | |
2 | g.199348814T>A | CA350387387 | SATB2 | c.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) | |
2 | g.199348814T>C | CA2045975 | SATB2 | c.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 |
2 | g.199348814T>G | CA350387390 | SATB2 | c.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) | |
2 | g.199348814T= | CA1320151655 | SATB2 | c.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=) | |
2 | g.199348815T>A | CA430835177 | SATB2 | c.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=) | |
2 | g.199348815T>C | CA430835175 | SATB2 | c.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 |
2 | g.199348815T>G | CA430835176 | SATB2 | c.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 |
2 | g.199348815T= | CA1320151656 | SATB2 | c.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=) | |
2 | g.199348816G>A | CA350387392 | SATB2 | c.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 |
2 | g.199348816G>C | CA350387395 | SATB2 | c.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) | |
2 | g.199348816G>T | CA350387393 | SATB2 | c.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) | |
2 | g.199348817G>A | CA350387397 | SATB2 | c.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 |
2 | g.199348817G>C | CA350387398 | SATB2 | c.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) | |
2 | g.199348817G>T | CA350387399 | SATB2 | c.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 |
2 | g.199348818C>A | CA350387401 | SATB2 | c.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 |
2 | g.199348818C>G | CA350387403 | SATB2 | c.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) | |
2 | g.199348818C>T | CA430835179 | SATB2 | c.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 |
2 | g.199348819T>A | CA350387405 | SATB2 | c.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) | |
2 | g.199348819T>C | CA350387406 | SATB2 | c.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) | |
2 | g.199348819T>G | CA350387407 | SATB2 | c.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) | |
2 | g.199348820C>A | CA350387409 | SATB2 | c.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) | |
2 | g.199348820C>G | CA350387410 | SATB2 | c.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) | |
2 | g.199348820C>T | CA350387412 | SATB2 | c.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) | |
2 | g.199348821T>A | CA430835181 | SATB2 | c.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=) | |
2 | g.199348821T>C | CA430835182 | SATB2 | c.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 |
2 | g.199348821T>G | CA430835183 | SATB2 | c.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=) | |
2 | g.199348822G>A | CA350387416 | SATB2 | c.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 |
2 | g.199348822G>C | CA350387415 | SATB2 | c.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) | |
2 | g.199348822G>T | CA350387414 | SATB2 | c.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) | |
2 | g.199348823G>A | CA350387418 | SATB2 | c.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) | |
2 | g.199348823G>C | CA350387421 | SATB2 | c.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) | |
2 | g.199348823G>T | CA350387420 | SATB2 | c.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) | |
2 | g.199348824C>A | CA350387423 | SATB2 | c.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) | |
2 | g.199348824C= | CA1320151657 | SATB2 | c.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=) | |
2 | g.199348824C>G | CA350387424 | SATB2 | c.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) | |
2 | g.199348824C>T | CA2045976 | SATB2 | c.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 |
2 | g.199348825T>A | CA350387427 | SATB2 | c.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) | |
2 | g.199348825T>C | CA350387428 | SATB2 | c.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) | |
2 | g.199348825T>G | CA350387429 | SATB2 | c.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) | |
2 | g.199348826T>A | CA350387431 | SATB2 | c.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) | |
2 | g.199348826T>C | CA350387433 | SATB2 | c.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) | |
2 | g.199348826T>G | CA350387435 | SATB2 | c.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) | |
2 | g.199348827A>C | CA430835187 | SATB2 | c.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=) | |
2 | g.199348827A>G | CA430835188 | SATB2 | c.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=) | |
2 | g.199348827A>T | CA430835189 | SATB2 | c.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=) | |
2 | g.199348828A>C | CA350387436 | SATB2 | c.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) | |
2 | g.199348828A>G | CA350387438 | SATB2 | c.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 |
2 | g.199348828A>T | CA350387439 | SATB2 | c.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) | |
2 | g.199348829C>A | CA350387444 | SATB2 | c.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) | |
2 | g.199348829C>G | CA350387441 | SATB2 | c.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) | |
2 | g.199348829C>T | CA350387443 | SATB2 | c.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 |
2 | g.199348830T>A | CA430835191 | SATB2 | c.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=) | |
2 | g.199348830T>C | CA430835192 | SATB2 | c.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=) | |
2 | g.199348830T>G | CA430835193 | SATB2 | c.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=) | |
2 | g.199348831G>A | CA350387446 | SATB2 | c.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) | |
2 | g.199348831G>C | CA350387448 | SATB2 | c.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) | |
2 | g.199348831G>T | CA350387450 | SATB2 | c.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) | |
2 | g.199348832C>A | CA350387452 | SATB2 | c.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) | |
2 | g.199348832C>G | CA350387453 | SATB2 | c.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) | |
2 | g.199348832C>T | CA350387455 | SATB2 | c.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) | |
2 | g.199348833T>A | CA350387456 | SATB2 | c.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) | |
2 | g.199348833T>C | CA430835195 | SATB2 | c.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 |
2 | g.199348833T>G | CA350387458 | SATB2 | c.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 |
2 | g.199348834C>A | CA350387459 | SATB2 | c.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) | |
2 | g.199348834C= | CA1320151658 | SATB2 | c.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=) | |
2 | g.199348834C>G | CA350387461 | SATB2 | c.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) | |
2 | g.199348834C>T | CA2045977 | SATB2 | c.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 |
2 | g.199348835T>A | CA350387465 | SATB2 | c.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) | |
2 | g.199348835T>C | CA350387463 | SATB2 | c.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 |
2 | g.199348835T>G | CA64251726 | SATB2 | c.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 |
2 | g.199348835T= | CA1320151659 | SATB2 | c.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=) | |
2 | g.199348836G>A | CA430835198 | SATB2 | c.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=) | |
2 | g.199348836G>C | CA430835200 | SATB2 | c.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=) | |
2 | g.199348836G>T | CA430835199 | SATB2 | c.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=) | |
2 | g.199348839del | CA645519414 | SATB2 | c.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 |
2 | g.199348837G>A | CA350387467 | SATB2 | c.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) | |
2 | g.199348837G>C | CA350387468 | SATB2 | c.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) | |
2 | g.199348837G>T | CA350387470 | SATB2 | c.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) | |
2 | g.199348838G>A | CA350387471 | SATB2 | c.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) | |
2 | g.199348838G>C | CA350387473 | SATB2 | c.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) | |
2 | g.199348838G>T | CA350387474 | SATB2 | c.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) | |
2 | g.199348839G>A | CA430835201 | SATB2 | c.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 |
2 | g.199348839G>C | CA350387476 | SATB2 | c.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) | |
2 | g.199348839G= | CA1320151660 | SATB2 | c.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=) | |
2 | g.199348839G>T | CA2045978 | SATB2 | c.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 |
2 | g.199348840A>C | CA350387478 | SATB2 | c.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) | |
2 | g.199348840A>G | CA350387479 | SATB2 | c.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) | |
2 | g.199348840A>T | CA350387481 | SATB2 | c.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) | |
2 | g.199348841T>A | CA350387483 | SATB2 | c.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) | |
2 | g.199348841T>C | CA350387485 | SATB2 | c.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 |
2 | g.199348841T>G | CA350387486 | SATB2 | c.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) | |
2 | g.199348841T= | CA1320151661 | SATB2 | c.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=) | |
2 | g.199348842G>A | CA430835203 | SATB2 | c.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 |
2 | g.199348842G>C | CA430835204 | SATB2 | c.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=) | |
2 | g.199348842G>T | CA430835205 | SATB2 | c.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 |
2 | g.199348843G>A | CA350387489 | SATB2 | c.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) | |
2 | g.199348843G>C | CA350387492 | SATB2 | c.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) | |
2 | g.199348843G>T | CA350387490 | SATB2 | c.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) | |
2 | g.199348844G>A | CA2045979 | SATB2 | c.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 |
2 | g.199348844G>C | CA350387494 | SATB2 | c.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) | |
2 | g.199348844G= | CA1320151662 | SATB2 | c.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=) | |
2 | g.199348844G>T | CA350387496 | SATB2 | c.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) | |
2 | g.199348845T>A | CA430835206 | SATB2 | c.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=) | |
2 | g.199348845T>C | CA430835207 | SATB2 | c.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=) | |
2 | g.199348845T>G | CA430835208 | SATB2 | c.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=) | |
2 | g.199348846_199348853del | CA2740096408 | SATB2 | c.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 |
2 | g.199348846G>A | CA64251727 | SATB2 | c.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 |
2 | g.199348846G>C | CA350387498 | SATB2 | c.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) | |
2 | g.199348846G= | CA1320151663 | SATB2 | c.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=) | |
2 | g.199348846G>T | CA350387500 | SATB2 | c.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) | |
2 | g.199348847G>A | CA350387502 | SATB2 | c.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) | |
2 | g.199348847G>C | CA350387504 | SATB2 | c.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) | |
2 | g.199348847G= | CA1320151664 | SATB2 | c.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=) | |
2 | g.199348847G>T | CA350387505 | SATB2 | c.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 |
2 | g.199348848A>C | CA350387507 | SATB2 | c.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) | |
2 | g.199348848A>G | CA430835210 | SATB2 | c.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=) | |
2 | g.199348848A>T | CA350387508 | SATB2 | c.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) | |
2 | g.199348849T>A | CA350387510 | SATB2 | c.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) | |
2 | g.199348849T>C | CA350387512 | SATB2 | c.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 |
2 | g.199348849T>G | CA350387511 | SATB2 | c.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) | |
2 | g.199348850G>A | CA350387515 | SATB2 | c.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) | |
2 | g.199348850G>C | CA350387518 | SATB2 | c.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) | |
2 | g.199348850G>T | CA350387516 | SATB2 | c.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) | |
2 | g.199348851G>A | CA430835214 | SATB2 | c.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 |
2 | g.199348851G>C | CA350387520 | SATB2 | c.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) | |
2 | g.199348851G>T | CA350387521 | SATB2 | c.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) | |
2 | g.199348852T>A | CA350387523 | SATB2 | c.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) | |
2 | g.199348852T>C | CA350387525 | SATB2 | c.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) | |
2 | g.199348852T>G | CA350387526 | SATB2 | c.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) | |
2 | g.199348853T>A | CA350387528 | SATB2 | c.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) | |
2 | g.199348853T>C | CA350387530 | SATB2 | c.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) | |
2 | g.199348853T>G | CA350387531 | SATB2 | c.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) | |
2 | g.199348854C>A | CA430835215 | SATB2 | c.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=) | |
2 | g.199348854C>G | CA430835216 | SATB2 | c.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=) | |
2 | g.199348854C>T | CA430835217 | SATB2 | c.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=) | |
2 | g.199348855del | CA2739279404 | SATB2 | c.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 |
2 | g.199348855A>C | CA350387533 | SATB2 | c.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) | |
2 | g.199348855A>G | CA350387534 | SATB2 | c.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) | |
2 | g.199348855A>T | CA350387537 | SATB2 | c.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) | |
2 | g.199348856G>A | CA430835219 | SATB2 | c.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=) | |
2 | g.199348856G>C | CA350387538 | SATB2 | c.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) | |
2 | g.199348856G>T | CA350387539 | SATB2 | c.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) | |
2 | g.199348857G>A | CA430835224 | SATB2 | c.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=) | |
2 | g.199348857G>C | CA350387541 | SATB2 | c.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) | |
2 | g.199348857G>T | CA350387543 | SATB2 | c.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) | |
2 | g.199348858A>C | CA350387545 | SATB2 | c.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) | |
2 | g.199348858A>G | CA350387547 | SATB2 | c.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) | |
2 | g.199348858A>T | CA350387546 | SATB2 | c.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) | |
2 | g.199348859del | CA2580065414 | SATB2 | c.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 |
2 | g.199348859A>C | CA350387549 | SATB2 | c.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) | |
2 | g.199348859A>G | CA350387551 | SATB2 | c.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) | |
2 | g.199348859A>T | CA350387552 | SATB2 | c.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) | |
2 | g.199348860C>A | CA350387554 | SATB2 | c.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 |
2 | g.199348860C= | CA1320151665 | SATB2 | c.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=) | |
2 | g.199348860C>G | CA350387555 | SATB2 | c.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) | |
2 | g.199348860C>T | CA430835230 | SATB2 | c.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=) | |
2 | g.199348861T>A | CA350387557 | SATB2 | c.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) | |
2 | g.199348861T>C | CA350387559 | SATB2 | c.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) | |
2 | g.199348861T>G | CA350387561 | SATB2 | c.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) | |
2 | g.199348862G>A | CA350387562 | SATB2 | c.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) | |
2 | g.199348862G>C | CA350387563 | SATB2 | c.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 |
2 | g.199348862G= | CA1320151666 | SATB2 | c.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=) | |
2 | g.199348862G>T | CA350387565 | SATB2 | c.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) | |
2 | g.199348863C>A | CA350387568 | SATB2 | c.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) | |
2 | g.199348863C>G | CA350387567 | SATB2 | c.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) | |
2 | g.199348863C>T | CA430835233 | SATB2 | c.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=) | |
2 | g.199348864T>A | CA350387570 | SATB2 | c.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) | |
2 | g.199348864T>C | CA350387572 | SATB2 | c.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 |
2 | g.199348864T>G | CA350387574 | SATB2 | c.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) | |
2 | g.199348864dup | CA2586970963 | SATB2 | c.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) | |
2 | g.199348865G>A | CA350387575 | SATB2 | c.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) | |
2 | g.199348865G>C | CA350387577 | SATB2 | c.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) | |
2 | g.199348865G>T | CA350387578 | SATB2 | c.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) | |
2 | g.199348866G>A | CA430835239 | SATB2 | c.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 |
2 | g.199348866G>C | CA350387580 | SATB2 | c.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) | |
2 | g.199348866G= | CA1320151667 | SATB2 | c.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=) | |
2 | g.199348866G>T | CA350387582 | SATB2 | c.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) | |
2 | g.199348867T>A | CA350387584 | SATB2 | c.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) | |
2 | g.199348867T>C | CA350387587 | SATB2 | c.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 |
2 | g.199348867T>G | CA350387586 | SATB2 | c.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) | |
2 | g.199348867T= | CA1320151668 | SATB2 | c.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=) | |
2 | g.199348868T>A | CA350387589 | SATB2 | c.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) | |
2 | g.199348868T>C | CA350387591 | SATB2 | c.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) | |
2 | g.199348868T>G | CA350387593 | SATB2 | c.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) | |
2 | g.199348869G>A | CA430835220 | SATB2 | c.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 |
2 | g.199348869G>C | CA350387594 | SATB2 | c.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) | |
2 | g.199348869G>T | CA430835222 | SATB2 | c.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=) | |
2 | g.199348870A>C | CA350387596 | SATB2 | c.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) | |
2 | g.199348870A>G | CA350387599 | SATB2 | c.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) | |
2 | g.199348870A>T | CA350387597 | SATB2 | c.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) | |
2 | g.199348871T>A | CA350387600 | SATB2 | c.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) | |
2 | g.199348871T>C | CA350387602 | SATB2 | c.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 |
2 | g.199348871T>G | CA350387603 | SATB2 | c.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) | |
2 | g.199348872G>A | CA430835226 | SATB2 | c.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=) | |
2 | g.199348872G>C | CA430835227 | SATB2 | c.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=) | |
2 | g.199348872G>T | CA430835228 | SATB2 | c.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 |
2 | g.199348873G>A | CA350387605 | SATB2 | c.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) | |
2 | g.199348873G>C | CA350387607 | SATB2 | c.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) | |
2 | g.199348873G= | CA1320151669 | SATB2 | c.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=) | |
2 | g.199348873G>T | CA350387608 | SATB2 | c.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 |
2 | g.199348874C>A | CA350387610 | SATB2 | c.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) | |
2 | g.199348874C= | CA1320151670 | SATB2 | c.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=) | |
2 | g.199348874C>G | CA350387611 | SATB2 | c.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) | |
2 | g.199348874C>T | CA2045980 | SATB2 | c.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 |
2 | g.199348875T>A | CA350387614 | SATB2 | c.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) | |
2 | g.199348875T>C | CA430835231 | SATB2 | c.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=) | |
2 | g.199348875T>G | CA350387615 | SATB2 | c.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) | |
2 | g.199348876T>A | CA350387617 | SATB2 | c.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) | |
2 | g.199348876T>C | CA350387620 | SATB2 | c.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) | |
2 | g.199348876T>G | CA350387618 | SATB2 | c.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) | |
2 | g.199348877G>A | CA350387621 | SATB2 | c.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 |
2 | g.199348877G>C | CA350387624 | SATB2 | c.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 |
2 | g.199348877G= | CA1320151671 | SATB2 | c.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=) | |
2 | g.199348877G>T | CA350387622 | SATB2 | c.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) | |
2 | g.199348878A= | CA1320151672 | SATB2 | c.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=) | |
2 | g.199348878A>C | CA430835234 | SATB2 | c.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=) | |
2 | g.199348878A>G | CA430835236 | SATB2 | c.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=) | |
2 | g.199348878A>T | CA430835235 | SATB2 | c.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 |
2 | g.199348879G>A | CA350387626 | SATB2 | c.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) | |
2 | g.199348879G>C | CA350387627 | SATB2 | c.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) | |
2 | g.199348879G>T | CA350387629 | SATB2 | c.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) | |
2 | g.199348880G>A | CA350387630 | SATB2 | c.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) | |
2 | g.199348880G>C | CA350387632 | SATB2 | c.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) | |
2 | g.199348880G>T | CA350387634 | SATB2 | c.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 |
2 | g.199348881A>C | CA350387636 | SATB2 | c.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) | |
2 | g.199348881A>G | CA430835238 | SATB2 | c.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=) | |
2 | g.199348881A>T | CA350387637 | SATB2 | c.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) | |
2 | g.199348882T>A | CA350387638 | SATB2 | c.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) | |
2 | g.199348882T>C | CA350387640 | SATB2 | c.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) | |
2 | g.199348882T>G | CA350387642 | SATB2 | c.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) | |
2 | g.199348883G>A | CA350387646 | SATB2 | c.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 |
2 | g.199348883G>C | CA350387644 | SATB2 | c.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) | |
2 | g.199348883G>T | CA350387645 | SATB2 | c.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) | |
2 | g.199348884C>A | CA350387648 | SATB2 | c.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) | |
2 | g.199348884C>G | CA350387650 | SATB2 | c.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) | |
2 | g.199348884C>T | CA430835241 | SATB2 | c.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=) | |
2 | g.199348885T>A | CA350387652 | SATB2 | c.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) | |
2 | g.199348885T>C | CA350387653 | SATB2 | c.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 |
2 | g.199348885T>G | CA350387654 | SATB2 | c.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) | |
2 | g.199348886G>A | CA350387656 | SATB2 | c.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) | |
2 | g.199348886G>C | CA350387658 | SATB2 | c.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) | |
2 | g.199348886G>T | CA350387659 | SATB2 | c.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 |
2 | g.199348887G>A | CA430835243 | SATB2 | c.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=) | |
2 | g.199348887G>C | CA350387661 | SATB2 | c.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) | |
2 | g.199348887G>T | CA350387662 | SATB2 | c.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) | |
2 | g.199348888T>A | CA350387668 | SATB2 | c.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) | |
2 | g.199348888T>C | CA350387666 | SATB2 | c.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) | |
2 | g.199348888T>G | CA350387664 | SATB2 | c.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 |
2 | g.199348888T= | CA1320151673 | SATB2 | c.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=) | |
2 | g.199348889G>A | CA350387669 | SATB2 | c.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 |
2 | g.199348889G>C | CA350387671 | SATB2 | c.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) | |
2 | g.199348889G>T | CA350387672 | SATB2 | c.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) | |
2 | g.199348890A>C | CA430835244 | SATB2 | c.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=) | |
2 | g.199348890A>G | CA430835246 | SATB2 | c.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 |
2 | g.199348890A>T | CA430835245 | SATB2 | c.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=) | |
2 | g.199348891G>A | CA350387674 | SATB2 | c.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) | |
2 | g.199348891G>C | CA350387676 | SATB2 | c.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) | |
2 | g.199348891G>T | CA350387678 | SATB2 | c.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 |
2 | g.199348892C>A | CA350387680 | SATB2 | c.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 |
2 | g.199348892C>G | CA350387682 | SATB2 | c.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 |
2 | g.199348892C>T | CA350387683 | SATB2 | c.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) | |
2 | g.199348893C>A | CA430835250 | SATB2 | c.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=) | |
2 | g.199348893C>G | CA430835249 | SATB2 | c.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=) | |
2 | g.199348893C>T | CA430835248 | SATB2 | c.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=) | |
2 | g.199348894A>C | CA350387685 | SATB2 | c.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) | |
2 | g.199348894A>G | CA350387686 | SATB2 | c.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) | |
2 | g.199348894A>T | CA350387687 | SATB2 | c.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) | |
2 | g.199348895G>A | CA430835251 | SATB2 | c.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=) | |
2 | g.199348895G>C | CA350387691 | SATB2 | c.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) | |
2 | g.199348895G>T | CA350387690 | SATB2 | c.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) | |
2 | g.199348896G>A | CA430835252 | SATB2 | c.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 |
2 | g.199348896G>C | CA430835254 | SATB2 | c.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 |
2 | g.199348896G= | CA1320151674 | SATB2 | c.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=) | |
2 | g.199348896G>T | CA430835253 | SATB2 | c.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 |
2 | g.199348897A>C | CA350387693 | SATB2 | c.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) | |
2 | g.199348897A>G | CA350387695 | SATB2 | c.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) | |
2 | g.199348897A>T | CA350387696 | SATB2 | c.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) | |
2 | g.199348898G>A | CA350387698 | SATB2 | c.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) | |
2 | g.199348898G>C | CA350387700 | SATB2 | c.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) | |
2 | g.199348898G>T | CA350387701 | SATB2 | c.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) | |
2 | g.199348899C>A | CA430835257 | SATB2 | c.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 |
2 | g.199348899C>G | CA430835258 | SATB2 | c.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=) | |
2 | g.199348899C>T | CA430835259 | SATB2 | c.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 |
2 | g.199348900C>A | CA350387703 | SATB2 | c.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 |
2 | g.199348900C= | CA1320151675 | SATB2 | c.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=) | |
2 | g.199348900C>G | CA350387704 | SATB2 | c.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) | |
2 | g.199348900C>T | CA350387706 | SATB2 | c.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 |
2 | g.199348901G>A | CA350387708 | SATB2 | c.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 |
2 | g.199348901G>C | CA350387709 | SATB2 | c.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) | |
2 | g.199348901G>T | CA430835260 | SATB2 | c.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=) | |
2 | g.199348902G>A | CA430835261 | SATB2 | c.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 |
2 | g.199348902G>C | CA350387711 | SATB2 | c.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) | |
2 | g.199348902G= | CA1320151676 | SATB2 | c.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=) | |
2 | g.199348902G>T | CA350387713 | SATB2 | c.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) | |
2 | g.199348903C>A | CA350387716 | SATB2 | c.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) | |
2 | g.199348903C>G | CA350387717 | SATB2 | c.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) | |
2 | g.199348903C>T | CA350387714 | SATB2 | c.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) | |
2 | g.199348904T>A | CA350387722 | SATB2 | c.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) | |
2 | g.199348904T>C | CA350387719 | SATB2 | c.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) | |
2 | g.199348904T>G | CA350387721 | SATB2 | c.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) | |
2 | g.199348905A>C | CA430835264 | SATB2 | c.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=) | |
2 | g.199348905A>G | CA430835265 | SATB2 | c.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=) | |
2 | g.199348905A>T | CA430835266 | SATB2 | c.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 |
2 | g.199348906A>C | CA350387724 | SATB2 | c.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) | |
2 | g.199348906A>G | CA350387725 | SATB2 | c.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) | |
2 | g.199348906A>T | CA350387727 | SATB2 | c.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) | |
2 | g.199348907C>A | CA350387729 | SATB2 | c.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) | |
2 | g.199348907C= | CA1320151677 | SATB2 | c.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=) | |
2 | g.199348907C>G | CA350387730 | SATB2 | c.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) | |
2 | g.199348907C>T | CA2045981 | SATB2 | c.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 |
2 | g.199348908G>A | CA2045982 | SATB2 | c.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 |
2 | g.199348908G>C | CA430835270 | SATB2 | c.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=) | |
2 | g.199348908G= | CA1320151678 | SATB2 | c.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=) | |
2 | g.199348908G>T | CA430835271 | SATB2 | c.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 |
2 | g.199348909G>A | CA350387733 | SATB2 | c.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 |
2 | g.199348909G>C | CA350387735 | SATB2 | c.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) | |
2 | g.199348909G>T | CA350387736 | SATB2 | c.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) | |
2 | g.199348910C>A | CA350387742 | SATB2 | c.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) | |
2 | g.199348910C>G | CA350387739 | SATB2 | c.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) | |
2 | g.199348910C>T | CA350387740 | SATB2 | c.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) | |
2 | g.199348911A>C | CA350387743 | SATB2 | c.609T>G (p.Ile203Met) c.963T>G (p.Ile321Met) c.347-76239T>G (n.347-76239T>G) c.617T>G c.786T>G (p.Ile262Met) n.602T>G c.789T>G (p.Ile263Met) c.540T>G (p.Ile180Met) | |
2 | g.199348911A>G | CA430835273 | SATB2 | c.609T>C (p.Ile203=) c.963T>C (p.Ile321=) c.347-76239T>C (n.347-76239T>C) c.617T>C c.786T>C (p.Ile262=) n.602T>C c.789T>C (p.Ile263=) c.540T>C (p.Ile180=) | |
2 | g.199348911A>T | CA430835272 | SATB2 | c.609T>A (p.Ile203=) c.963T>A (p.Ile321=) c.347-76239T>A (n.347-76239T>A) c.617T>A c.786T>A (p.Ile262=) n.602T>A c.789T>A (p.Ile263=) c.540T>A (p.Ile180=) |