| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 2 | g.199348912A= | CA1320151679 | SATB2 | c.608T= (p.Ile203=) c.962T= (p.Ile321=) c.347-76240T= (n.347-76240T=) c.616T= c.785T= (p.Ile262=) n.601T= c.788T= (p.Ile263=) c.539T= (p.Ile180=) | |
| 2 | g.199348912A>C | CA350387744 | SATB2 | c.608T>G (p.Ile203Ser) c.962T>G (p.Ile321Ser) c.347-76240T>G (n.347-76240T>G) c.616T>G c.785T>G (p.Ile262Ser) n.601T>G c.788T>G (p.Ile263Ser) c.539T>G (p.Ile180Ser) | |
| 2 | g.199348912A>G | CA350387745 | SATB2 | c.608T>C (p.Ile203Thr) c.962T>C (p.Ile321Thr) c.347-76240T>C (n.347-76240T>C) c.616T>C c.785T>C (p.Ile262Thr) n.601T>C c.788T>C (p.Ile263Thr) c.539T>C (p.Ile180Thr) | gnomAD v4 |
| 2 | g.199348912A>T | CA350387746 | SATB2 | c.608T>A (p.Ile203Asn) c.962T>A (p.Ile321Asn) c.347-76240T>A (n.347-76240T>A) c.616T>A c.785T>A (p.Ile262Asn) n.601T>A c.788T>A (p.Ile263Asn) c.539T>A (p.Ile180Asn) | |
| 2 | g.199348912_199348913insG | CA1320151680 | SATB2 | c.607_608insC (p.Ile203ThrfsTer4) c.961_962insC (p.Ile321ThrfsTer4) c.347-76241_347-76240insC (n.347-76241_347-76240insC) c.615_616insC c.784_785insC (p.Ile262ThrfsTer4) n.600_601insC c.787_788insC (p.Ile263ThrfsTer4) c.538_539insC (p.Ile180ThrfsTer4) | dbSNP |
| 2 | g.199348913T>A | CA350387747 | SATB2 | c.607A>T (p.Ile203Phe) c.961A>T (p.Ile321Phe) c.347-76241A>T (n.347-76241A>T) c.615A>T c.784A>T (p.Ile262Phe) n.600A>T c.787A>T (p.Ile263Phe) c.538A>T (p.Ile180Phe) | |
| 2 | g.199348913T>C | CA350387748 | SATB2 | c.607A>G (p.Ile203Val) c.961A>G (p.Ile321Val) c.347-76241A>G (n.347-76241A>G) c.615A>G c.784A>G (p.Ile262Val) n.600A>G c.787A>G (p.Ile263Val) c.538A>G (p.Ile180Val) | |
| 2 | g.199348913T>G | CA350387749 | SATB2 | c.607A>C (p.Ile203Leu) c.961A>C (p.Ile321Leu) c.347-76241A>C (n.347-76241A>C) c.615A>C c.784A>C (p.Ile262Leu) n.600A>C c.787A>C (p.Ile263Leu) c.538A>C (p.Ile180Leu) | |
| 2 | g.199348914C>A | CA350387750 | SATB2 | c.606G>T (p.Gln202His) c.960G>T (p.Gln320His) c.347-76242G>T (n.347-76242G>T) c.614G>T c.783G>T (p.Gln261His) n.599G>T c.786G>T (p.Gln262His) c.537G>T (p.Gln179His) | dbSNP gnomAD v2 |
| 2 | g.199348914C= | CA1320151681 | SATB2 | c.606G= (p.Gln202=) c.960G= (p.Gln320=) c.347-76242G= (n.347-76242G=) c.614G= c.783G= (p.Gln261=) n.599G= c.786G= (p.Gln262=) c.537G= (p.Gln179=) | |
| 2 | g.199348914C>G | CA350387751 | SATB2 | c.606G>C (p.Gln202His) c.960G>C (p.Gln320His) c.347-76242G>C (n.347-76242G>C) c.614G>C c.783G>C (p.Gln261His) n.599G>C c.786G>C (p.Gln262His) c.537G>C (p.Gln179His) | |
| 2 | g.199348914C>T | CA430835275 | SATB2 | c.606G>A (p.Gln202=) c.960G>A (p.Gln320=) c.347-76242G>A (n.347-76242G>A) c.614G>A c.783G>A (p.Gln261=) n.599G>A c.786G>A (p.Gln262=) c.537G>A (p.Gln179=) | |
| 2 | g.199348915T>A | CA350387752 | SATB2 | c.605A>T (p.Gln202Leu) c.959A>T (p.Gln320Leu) c.347-76243A>T (n.347-76243A>T) c.613A>T c.782A>T (p.Gln261Leu) n.598A>T c.785A>T (p.Gln262Leu) c.536A>T (p.Gln179Leu) | |
| 2 | g.199348915T>C | CA350387753 | SATB2 | c.605A>G (p.Gln202Arg) c.959A>G (p.Gln320Arg) c.347-76243A>G (n.347-76243A>G) c.613A>G c.782A>G (p.Gln261Arg) n.598A>G c.785A>G (p.Gln262Arg) c.536A>G (p.Gln179Arg) | |
| 2 | g.199348915T>G | CA350387754 | SATB2 | c.605A>C (p.Gln202Pro) c.959A>C (p.Gln320Pro) c.347-76243A>C (n.347-76243A>C) c.613A>C c.782A>C (p.Gln261Pro) n.598A>C c.785A>C (p.Gln262Pro) c.536A>C (p.Gln179Pro) | |
| 2 | g.199348916G>A | CA350387757 | SATB2 | c.604C>T (p.Gln202Ter) c.958C>T (p.Gln320Ter) c.347-76244C>T (n.347-76244C>T) c.612C>T c.781C>T (p.Gln261Ter) n.597C>T c.784C>T (p.Gln262Ter) c.535C>T (p.Gln179Ter) | |
| 2 | g.199348916G>C | CA350387756 | SATB2 | c.604C>G (p.Gln202Glu) c.958C>G (p.Gln320Glu) c.347-76244C>G (n.347-76244C>G) c.612C>G c.781C>G (p.Gln261Glu) n.597C>G c.784C>G (p.Gln262Glu) c.535C>G (p.Gln179Glu) | |
| 2 | g.199348916G>T | CA350387755 | SATB2 | c.604C>A (p.Gln202Lys) c.958C>A (p.Gln320Lys) c.347-76244C>A (n.347-76244C>A) c.612C>A c.781C>A (p.Gln261Lys) n.597C>A c.784C>A (p.Gln262Lys) c.535C>A (p.Gln179Lys) | |
| 2 | g.199348917T>A | CA350387759 | SATB2 | c.603A>T (p.Gln201His) c.957A>T (p.Gln319His) c.347-76245A>T (n.347-76245A>T) c.611A>T c.780A>T (p.Gln260His) n.596A>T c.783A>T (p.Gln261His) c.534A>T (p.Gln178His) | |
| 2 | g.199348917T>C | CA430835277 | SATB2 | c.603A>G (p.Gln201=) c.957A>G (p.Gln319=) c.347-76245A>G (n.347-76245A>G) c.611A>G c.780A>G (p.Gln260=) n.596A>G c.783A>G (p.Gln261=) c.534A>G (p.Gln178=) | gnomAD v4 |
| 2 | g.199348917T>G | CA350387758 | SATB2 | c.603A>C (p.Gln201His) c.957A>C (p.Gln319His) c.347-76245A>C (n.347-76245A>C) c.611A>C c.780A>C (p.Gln260His) n.596A>C c.783A>C (p.Gln261His) c.534A>C (p.Gln178His) | |
| 2 | g.199348918T>A | CA350387760 | SATB2 | c.602A>T (p.Gln201Leu) c.956A>T (p.Gln319Leu) c.347-76246A>T (n.347-76246A>T) c.610A>T c.779A>T (p.Gln260Leu) n.595A>T c.782A>T (p.Gln261Leu) c.533A>T (p.Gln178Leu) | |
| 2 | g.199348918T>C | CA350387761 | SATB2 | c.602A>G (p.Gln201Arg) c.956A>G (p.Gln319Arg) c.347-76246A>G (n.347-76246A>G) c.610A>G c.779A>G (p.Gln260Arg) n.595A>G c.782A>G (p.Gln261Arg) c.533A>G (p.Gln178Arg) | |
| 2 | g.199348918T>G | CA350387762 | SATB2 | c.602A>C (p.Gln201Pro) c.956A>C (p.Gln319Pro) c.347-76246A>C (n.347-76246A>C) c.610A>C c.779A>C (p.Gln260Pro) n.595A>C c.782A>C (p.Gln261Pro) c.533A>C (p.Gln178Pro) | |
| 2 | g.199348919G>A | CA350387763 | SATB2 | c.601C>T (p.Gln201Ter) c.955C>T (p.Gln319Ter) c.347-76247C>T (n.347-76247C>T) c.609C>T c.778C>T (p.Gln260Ter) n.594C>T c.781C>T (p.Gln261Ter) c.532C>T (p.Gln178Ter) | ClinVar |
| 2 | g.199348919G>C | CA350387764 | SATB2 | c.601C>G (p.Gln201Glu) c.955C>G (p.Gln319Glu) c.347-76247C>G (n.347-76247C>G) c.609C>G c.778C>G (p.Gln260Glu) n.594C>G c.781C>G (p.Gln261Glu) c.532C>G (p.Gln178Glu) | |
| 2 | g.199348919G>T | CA350387765 | SATB2 | c.601C>A (p.Gln201Lys) c.955C>A (p.Gln319Lys) c.347-76247C>A (n.347-76247C>A) c.609C>A c.778C>A (p.Gln260Lys) n.594C>A c.781C>A (p.Gln261Lys) c.532C>A (p.Gln178Lys) | |
| 2 | g.199348920del | CA2662538444 | SATB2 | c.601del (p.Gln201AsnfsTer22) c.955del (p.Gln319AsnfsTer22) c.347-76247del (n.347-76247del) c.609del c.778del (p.Gln260AsnfsTer22) n.594del c.781del (p.Gln261AsnfsTer22) c.532del (p.Gln178AsnfsTer22) | gnomAD v4 |
| 2 | g.199348920G>A | CA430835278 | SATB2 | c.600C>T (p.Asn200=) c.954C>T (p.Asn318=) c.347-76248C>T (n.347-76248C>T) c.608C>T c.777C>T (p.Asn259=) n.593C>T c.780C>T (p.Asn260=) c.531C>T (p.Asn177=) | gnomAD v4 |
| 2 | g.199348920G>C | CA350387766 | SATB2 | c.600C>G (p.Asn200Lys) c.954C>G (p.Asn318Lys) c.347-76248C>G (n.347-76248C>G) c.608C>G c.777C>G (p.Asn259Lys) n.593C>G c.780C>G (p.Asn260Lys) c.531C>G (p.Asn177Lys) |