| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.199348807G>A | CA350387360 | SATB2 | c.713C>T (p.Ser238Phe) c.1067C>T (p.Ser356Phe) c.347-76135C>T (n.347-76135C>T) c.721C>T c.890C>T (p.Ser297Phe) n.706C>T c.893C>T (p.Ser298Phe) c.644C>T (p.Ser215Phe) | COSMIC |
| 2 | g.199348807G>C | CA350387361 | SATB2 | c.713C>G (p.Ser238Cys) c.1067C>G (p.Ser356Cys) c.347-76135C>G (n.347-76135C>G) c.721C>G c.890C>G (p.Ser297Cys) n.706C>G c.893C>G (p.Ser298Cys) c.644C>G (p.Ser215Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.199348807G= | CA1320151652 | SATB2 | c.713C= (p.Ser238=) c.1067C= (p.Ser356=) c.347-76135C= (n.347-76135C=) c.721C= c.890C= (p.Ser297=) n.706C= c.893C= (p.Ser298=) c.644C= (p.Ser215=) | |
| 2 | g.199348807G>T | CA350387363 | SATB2 | c.713C>A (p.Ser238Tyr) c.1067C>A (p.Ser356Tyr) c.347-76135C>A (n.347-76135C>A) c.721C>A c.890C>A (p.Ser297Tyr) n.706C>A c.893C>A (p.Ser298Tyr) c.644C>A (p.Ser215Tyr) | COSMIC |
| 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.199348808A>C | CA350387366 | SATB2 | c.712T>G (p.Ser238Ala) c.1066T>G (p.Ser356Ala) c.347-76136T>G (n.347-76136T>G) c.720T>G c.889T>G (p.Ser297Ala) n.705T>G c.892T>G (p.Ser298Ala) c.643T>G (p.Ser215Ala) | |
| 2 | g.199348808A>G | CA350387367 | SATB2 | c.712T>C (p.Ser238Pro) c.1066T>C (p.Ser356Pro) c.347-76136T>C (n.347-76136T>C) c.720T>C c.889T>C (p.Ser297Pro) n.705T>C c.892T>C (p.Ser298Pro) c.643T>C (p.Ser215Pro) | |
| 2 | g.199348808A>T | CA350387365 | SATB2 | c.712T>A (p.Ser238Thr) c.1066T>A (p.Ser356Thr) c.347-76136T>A (n.347-76136T>A) c.720T>A c.889T>A (p.Ser297Thr) n.705T>A c.892T>A (p.Ser298Thr) c.643T>A (p.Ser215Thr) | |
| 2 | g.199348809G>A | CA430835169 | SATB2 | c.711C>T (p.Asn237=) c.1065C>T (p.Asn355=) c.347-76137C>T (n.347-76137C>T) c.719C>T c.888C>T (p.Asn296=) n.704C>T c.891C>T (p.Asn297=) c.642C>T (p.Asn214=) | |
| 2 | g.199348809G>C | CA350387369 | SATB2 | c.711C>G (p.Asn237Lys) c.1065C>G (p.Asn355Lys) c.347-76137C>G (n.347-76137C>G) c.719C>G c.888C>G (p.Asn296Lys) n.704C>G c.891C>G (p.Asn297Lys) c.642C>G (p.Asn214Lys) | |
| 2 | g.199348809G>T | CA350387371 | SATB2 | c.711C>A (p.Asn237Lys) c.1065C>A (p.Asn355Lys) c.347-76137C>A (n.347-76137C>A) c.719C>A c.888C>A (p.Asn296Lys) n.704C>A c.891C>A (p.Asn297Lys) c.642C>A (p.Asn214Lys) | |
| 2 | g.199348810T>A | CA350387373 | SATB2 | c.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 |
| 2 | g.199348810T>C | CA350387374 | SATB2 | c.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 |
| 2 | g.199348810T>G | CA350387376 | SATB2 | c.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 |
| 2 | g.199348810T= | CA1320151653 | SATB2 | c.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=) | |
| 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) | ClinVar |
| 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 |