UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.199349059G>A | CA350388075 | SATB2 | c.461C>T (p.Pro154Leu) c.815C>T (p.Pro272Leu) c.347-76387C>T (n.347-76387C>T) c.469C>T c.638C>T (p.Pro213Leu) n.454C>T c.641C>T (p.Pro214Leu) c.392C>T (p.Pro131Leu) | COSMIC |
| 2 | g.199349059G>C | CA350388076 | SATB2 | c.461C>G (p.Pro154Arg) c.815C>G (p.Pro272Arg) c.347-76387C>G (n.347-76387C>G) c.469C>G c.638C>G (p.Pro213Arg) n.454C>G c.641C>G (p.Pro214Arg) c.392C>G (p.Pro131Arg) | |
| 2 | g.199349059G>T | CA350388077 | SATB2 | c.461C>A (p.Pro154His) c.815C>A (p.Pro272His) c.347-76387C>A (n.347-76387C>A) c.469C>A c.638C>A (p.Pro213His) n.454C>A c.641C>A (p.Pro214His) c.392C>A (p.Pro131His) | |
| 2 | g.199349060G>A | CA350388078 | SATB2 | c.460C>T (p.Pro154Ser) c.814C>T (p.Pro272Ser) c.347-76388C>T (n.347-76388C>T) c.468C>T c.637C>T (p.Pro213Ser) n.453C>T c.640C>T (p.Pro214Ser) c.391C>T (p.Pro131Ser) | gnomAD v4 |
| 2 | g.199349060G>C | CA350388079 | SATB2 | c.460C>G (p.Pro154Ala) c.814C>G (p.Pro272Ala) c.347-76388C>G (n.347-76388C>G) c.468C>G c.637C>G (p.Pro213Ala) n.453C>G c.640C>G (p.Pro214Ala) c.391C>G (p.Pro131Ala) | |
| 2 | g.199349060G>T | CA350388080 | SATB2 | c.460C>A (p.Pro154Thr) c.814C>A (p.Pro272Thr) c.347-76388C>A (n.347-76388C>A) c.468C>A c.637C>A (p.Pro213Thr) n.453C>A c.640C>A (p.Pro214Thr) c.391C>A (p.Pro131Thr) | |
| 2 | g.199349061A= | CA1320151730 | SATB2 | c.459T= (p.Ser153=) c.813T= (p.Ser271=) c.347-76389T= (n.347-76389T=) c.467T= c.636T= (p.Ser212=) n.452T= c.639T= (p.Ser213=) c.390T= (p.Ser130=) | |
| 2 | g.199349061A>C | CA430835435 | SATB2 | c.459T>G (p.Ser153=) c.813T>G (p.Ser271=) c.347-76389T>G (n.347-76389T>G) c.467T>G c.636T>G (p.Ser212=) n.452T>G c.639T>G (p.Ser213=) c.390T>G (p.Ser130=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.199349061A>G | CA2046001 | SATB2 | c.459T>C (p.Ser153=) c.813T>C (p.Ser271=) c.347-76389T>C (n.347-76389T>C) c.467T>C c.636T>C (p.Ser212=) n.452T>C c.639T>C (p.Ser213=) c.390T>C (p.Ser130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.199349061A>T | CA430835436 | SATB2 | c.459T>A (p.Ser153=) c.813T>A (p.Ser271=) c.347-76389T>A (n.347-76389T>A) c.467T>A c.636T>A (p.Ser212=) n.452T>A c.639T>A (p.Ser213=) c.390T>A (p.Ser130=) | |
| 2 | g.199349062G>A | CA350388081 | SATB2 | c.458C>T (p.Ser153Phe) c.812C>T (p.Ser271Phe) c.347-76390C>T (n.347-76390C>T) c.466C>T c.635C>T (p.Ser212Phe) n.451C>T c.638C>T (p.Ser213Phe) c.389C>T (p.Ser130Phe) | |
| 2 | g.199349062G>C | CA350388082 | SATB2 | c.458C>G (p.Ser153Cys) c.812C>G (p.Ser271Cys) c.347-76390C>G (n.347-76390C>G) c.466C>G c.635C>G (p.Ser212Cys) n.451C>G c.638C>G (p.Ser213Cys) c.389C>G (p.Ser130Cys) | |
| 2 | g.199349062G>T | CA350388083 | SATB2 | c.458C>A (p.Ser153Tyr) c.812C>A (p.Ser271Tyr) c.347-76390C>A (n.347-76390C>A) c.466C>A c.635C>A (p.Ser212Tyr) n.451C>A c.638C>A (p.Ser213Tyr) c.389C>A (p.Ser130Tyr) | |
| 2 | g.199349063A>C | CA350388084 | SATB2 | c.457T>G (p.Ser153Ala) c.811T>G (p.Ser271Ala) c.347-76391T>G (n.347-76391T>G) c.465T>G c.634T>G (p.Ser212Ala) n.450T>G c.637T>G (p.Ser213Ala) c.388T>G (p.Ser130Ala) | gnomAD v4 |
| 2 | g.199349063A>G | CA350388086 | SATB2 | c.457T>C (p.Ser153Pro) c.811T>C (p.Ser271Pro) c.347-76391T>C (n.347-76391T>C) c.465T>C c.634T>C (p.Ser212Pro) n.450T>C c.637T>C (p.Ser213Pro) c.388T>C (p.Ser130Pro) | |
| 2 | g.199349063A>T | CA350388085 | SATB2 | c.457T>A (p.Ser153Thr) c.811T>A (p.Ser271Thr) c.347-76391T>A (n.347-76391T>A) c.465T>A c.634T>A (p.Ser212Thr) n.450T>A c.637T>A (p.Ser213Thr) c.388T>A (p.Ser130Thr) | |
| 2 | g.199349064C>A | CA350388087 | SATB2 | c.456G>T (p.Gln152His) c.810G>T (p.Gln270His) c.347-76392G>T (n.347-76392G>T) c.464G>T c.633G>T (p.Gln211His) n.449G>T c.636G>T (p.Gln212His) c.387G>T (p.Gln129His) | COSMIC |
| 2 | g.199349064C>G | CA350388088 | SATB2 | c.456G>C (p.Gln152His) c.810G>C (p.Gln270His) c.347-76392G>C (n.347-76392G>C) c.464G>C c.633G>C (p.Gln211His) n.449G>C c.636G>C (p.Gln212His) c.387G>C (p.Gln129His) | |
| 2 | g.199349064C>T | CA430835440 | SATB2 | c.456G>A (p.Gln152=) c.810G>A (p.Gln270=) c.347-76392G>A (n.347-76392G>A) c.464G>A c.633G>A (p.Gln211=) n.449G>A c.636G>A (p.Gln212=) c.387G>A (p.Gln129=) | |
| 2 | g.199349064_199349066delinsCTG | CA1320151731 | SATB2 | c.454_456delinsCAG (p.Gln152=) c.808_810delinsCAG (p.Gln270=) c.347-76394_347-76392delinsCAG (n.347-76394_347-76392delinsCAG) c.462_464delinsCAG c.631_633delinsCAG (p.Gln211=) n.447_449delinsCAG c.634_636delinsCAG (p.Gln212=) c.385_387delinsCAG (p.Gln129=) | |
| 2 | g.199349065T>A | CA350388089 | SATB2 | c.455A>T (p.Gln152Leu) c.809A>T (p.Gln270Leu) c.347-76393A>T (n.347-76393A>T) c.463A>T c.632A>T (p.Gln211Leu) n.448A>T c.635A>T (p.Gln212Leu) c.386A>T (p.Gln129Leu) | gnomAD v4 |
| 2 | g.199349065T>C | CA350388091 | SATB2 | c.455A>G (p.Gln152Arg) c.809A>G (p.Gln270Arg) c.347-76393A>G (n.347-76393A>G) c.463A>G c.632A>G (p.Gln211Arg) n.448A>G c.635A>G (p.Gln212Arg) c.386A>G (p.Gln129Arg) | |
| 2 | g.199349065T>G | CA350388090 | SATB2 | c.455A>C (p.Gln152Pro) c.809A>C (p.Gln270Pro) c.347-76393A>C (n.347-76393A>C) c.463A>C c.632A>C (p.Gln211Pro) n.448A>C c.635A>C (p.Gln212Pro) c.386A>C (p.Gln129Pro) | |
| 2 | g.199349066_199349067del | CA658796137 | SATB2 | c.454_455del (p.Gln152ValfsTer?) c.808_809del (p.Gln270ValfsTer?) c.347-76394_347-76393del (n.347-76394_347-76393del) c.462_463del c.631_632del (p.Gln211ValfsTer?) n.447_448del c.634_635del (p.Gln212ValfsTer?) c.385_386del (p.Gln129ValfsTer?) | ClinVar dbSNP |
| 2 | g.199349066G>A | CA350388092 | SATB2 | c.454C>T (p.Gln152Ter) c.808C>T (p.Gln270Ter) c.347-76394C>T (n.347-76394C>T) c.462C>T c.631C>T (p.Gln211Ter) n.447C>T c.634C>T (p.Gln212Ter) c.385C>T (p.Gln129Ter) | |
| 2 | g.199349066G>C | CA350388093 | SATB2 | c.454C>G (p.Gln152Glu) c.808C>G (p.Gln270Glu) c.347-76394C>G (n.347-76394C>G) c.462C>G c.631C>G (p.Gln211Glu) n.447C>G c.634C>G (p.Gln212Glu) c.385C>G (p.Gln129Glu) | |
| 2 | g.199349066G>T | CA350388094 | SATB2 | c.454C>A (p.Gln152Lys) c.808C>A (p.Gln270Lys) c.347-76394C>A (n.347-76394C>A) c.462C>A c.631C>A (p.Gln211Lys) n.447C>A c.634C>A (p.Gln212Lys) c.385C>A (p.Gln129Lys) | |
| 2 | g.199349067T>A | CA350388095 | SATB2 | c.453A>T (p.Glu151Asp) c.807A>T (p.Glu269Asp) c.347-76395A>T (n.347-76395A>T) c.461A>T c.630A>T (p.Glu210Asp) n.446A>T c.633A>T (p.Glu211Asp) c.384A>T (p.Glu128Asp) | |
| 2 | g.199349067T>C | CA430835443 | SATB2 | c.453A>G (p.Glu151=) c.807A>G (p.Glu269=) c.347-76395A>G (n.347-76395A>G) c.461A>G c.630A>G (p.Glu210=) n.446A>G c.633A>G (p.Glu211=) c.384A>G (p.Glu128=) | dbSNP |
| 2 | g.199349067T>G | CA350388096 | SATB2 | c.453A>C (p.Glu151Asp) c.807A>C (p.Glu269Asp) c.347-76395A>C (n.347-76395A>C) c.461A>C c.630A>C (p.Glu210Asp) n.446A>C c.633A>C (p.Glu211Asp) c.384A>C (p.Glu128Asp) | |
| 2 | g.199349067T= | CA1320151732 | SATB2 | c.453A= (p.Glu151=) c.807A= (p.Glu269=) c.347-76395A= (n.347-76395A=) c.461A= c.630A= (p.Glu210=) n.446A= c.633A= (p.Glu211=) c.384A= (p.Glu128=) | |
| 2 | g.199349068T>A | CA350388099 | SATB2 | c.452A>T (p.Glu151Val) c.806A>T (p.Glu269Val) c.347-76396A>T (n.347-76396A>T) c.460A>T c.629A>T (p.Glu210Val) n.445A>T c.632A>T (p.Glu211Val) c.383A>T (p.Glu128Val) | |
| 2 | g.199349068T>C | CA350388098 | SATB2 | c.452A>G (p.Glu151Gly) c.806A>G (p.Glu269Gly) c.347-76396A>G (n.347-76396A>G) c.460A>G c.629A>G (p.Glu210Gly) n.445A>G c.632A>G (p.Glu211Gly) c.383A>G (p.Glu128Gly) | gnomAD v4 |
| 2 | g.199349068T>G | CA350388097 | SATB2 | c.452A>C (p.Glu151Ala) c.806A>C (p.Glu269Ala) c.347-76396A>C (n.347-76396A>C) c.460A>C c.629A>C (p.Glu210Ala) n.445A>C c.632A>C (p.Glu211Ala) c.383A>C (p.Glu128Ala) | ClinVar |
| 2 | g.199349069C>A | CA350388100 | SATB2 | c.451G>T (p.Glu151Ter) c.805G>T (p.Glu269Ter) c.347-76397G>T (n.347-76397G>T) c.459G>T c.628G>T (p.Glu210Ter) n.444G>T c.631G>T (p.Glu211Ter) c.382G>T (p.Glu128Ter) | ClinVar |
| 2 | g.199349069C= | CA1320151733 | SATB2 | c.451G= (p.Glu151=) c.805G= (p.Glu269=) c.347-76397G= (n.347-76397G=) c.459G= c.628G= (p.Glu210=) n.444G= c.631G= (p.Glu211=) c.382G= (p.Glu128=) | |
| 2 | g.199349069C>G | CA350388101 | SATB2 | c.451G>C (p.Glu151Gln) c.805G>C (p.Glu269Gln) c.347-76397G>C (n.347-76397G>C) c.459G>C c.628G>C (p.Glu210Gln) n.444G>C c.631G>C (p.Glu211Gln) c.382G>C (p.Glu128Gln) | dbSNP |
| 2 | g.199349069C>T | CA350388102 | SATB2 | c.451G>A (p.Glu151Lys) c.805G>A (p.Glu269Lys) c.347-76397G>A (n.347-76397G>A) c.459G>A c.628G>A (p.Glu210Lys) n.444G>A c.631G>A (p.Glu211Lys) c.382G>A (p.Glu128Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.199349070G>A | CA2046002 | SATB2 | c.450C>T (p.Asn150=) c.804C>T (p.Asn268=) c.347-76398C>T (n.347-76398C>T) c.458C>T c.627C>T (p.Asn209=) n.443C>T c.630C>T (p.Asn210=) c.381C>T (p.Asn127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.199349070G>C | CA350388103 | SATB2 | c.450C>G (p.Asn150Lys) c.804C>G (p.Asn268Lys) c.347-76398C>G (n.347-76398C>G) c.458C>G c.627C>G (p.Asn209Lys) n.443C>G c.630C>G (p.Asn210Lys) c.381C>G (p.Asn127Lys) | |
| 2 | g.199349070G= | CA1320151734 | SATB2 | c.450C= (p.Asn150=) c.804C= (p.Asn268=) c.347-76398C= (n.347-76398C=) c.458C= c.627C= (p.Asn209=) n.443C= c.630C= (p.Asn210=) c.381C= (p.Asn127=) | |
| 2 | g.199349070G>T | CA350388104 | SATB2 | c.450C>A (p.Asn150Lys) c.804C>A (p.Asn268Lys) c.347-76398C>A (n.347-76398C>A) c.458C>A c.627C>A (p.Asn209Lys) n.443C>A c.630C>A (p.Asn210Lys) c.381C>A (p.Asn127Lys) | |
| 2 | g.199349071T>A | CA350388105 | SATB2 | c.449A>T (p.Asn150Ile) c.803A>T (p.Asn268Ile) c.347-76399A>T (n.347-76399A>T) c.457A>T c.626A>T (p.Asn209Ile) n.442A>T c.629A>T (p.Asn210Ile) c.380A>T (p.Asn127Ile) | |
| 2 | g.199349071T>C | CA64251733 | SATB2 | c.449A>G (p.Asn150Ser) c.803A>G (p.Asn268Ser) c.347-76399A>G (n.347-76399A>G) c.457A>G c.626A>G (p.Asn209Ser) n.442A>G c.629A>G (p.Asn210Ser) c.380A>G (p.Asn127Ser) | ClinVar dbSNP gnomAD v4 |
| 2 | g.199349071T>G | CA350388106 | SATB2 | c.449A>C (p.Asn150Thr) c.803A>C (p.Asn268Thr) c.347-76399A>C (n.347-76399A>C) c.457A>C c.626A>C (p.Asn209Thr) n.442A>C c.629A>C (p.Asn210Thr) c.380A>C (p.Asn127Thr) | |
| 2 | g.199349071T= | CA1320151735 | SATB2 | c.449A= (p.Asn150=) c.803A= (p.Asn268=) c.347-76399A= (n.347-76399A=) c.457A= c.626A= (p.Asn209=) n.442A= c.629A= (p.Asn210=) c.380A= (p.Asn127=) | |
| 2 | g.199349072T>A | CA350388107 | SATB2 | c.448A>T (p.Asn150Tyr) c.802A>T (p.Asn268Tyr) c.347-76400A>T (n.347-76400A>T) c.456A>T c.625A>T (p.Asn209Tyr) n.441A>T c.628A>T (p.Asn210Tyr) c.379A>T (p.Asn127Tyr) | |
| 2 | g.199349072T>C | CA350388108 | SATB2 | c.448A>G (p.Asn150Asp) c.802A>G (p.Asn268Asp) c.347-76400A>G (n.347-76400A>G) c.456A>G c.625A>G (p.Asn209Asp) n.441A>G c.628A>G (p.Asn210Asp) c.379A>G (p.Asn127Asp) | |
| 2 | g.199349072T>G | CA350388109 | SATB2 | c.448A>C (p.Asn150His) c.802A>C (p.Asn268His) c.347-76400A>C (n.347-76400A>C) c.456A>C c.625A>C (p.Asn209His) n.441A>C c.628A>C (p.Asn210His) c.379A>C (p.Asn127His) | |
| 2 | g.199349073G>A | CA430835453 | SATB2 | c.447C>T (p.Thr149=) c.801C>T (p.Thr267=) c.347-76401C>T (n.347-76401C>T) c.455C>T c.624C>T (p.Thr208=) n.440C>T c.627C>T (p.Thr209=) c.378C>T (p.Thr126=) | ClinVar gnomAD v4 |
| 2 | g.199349073G>C | CA430835452 | SATB2 | c.447C>G (p.Thr149=) c.801C>G (p.Thr267=) c.347-76401C>G (n.347-76401C>G) c.455C>G c.624C>G (p.Thr208=) n.440C>G c.627C>G (p.Thr209=) c.378C>G (p.Thr126=) | |
| 2 | g.199349073G>T | CA430835451 | SATB2 | c.447C>A (p.Thr149=) c.801C>A (p.Thr267=) c.347-76401C>A (n.347-76401C>A) c.455C>A c.624C>A (p.Thr208=) n.440C>A c.627C>A (p.Thr209=) c.378C>A (p.Thr126=) | |
| 2 | g.199349074G>A | CA350388110 | SATB2 | c.446C>T (p.Thr149Ile) c.800C>T (p.Thr267Ile) c.347-76402C>T (n.347-76402C>T) c.454C>T c.623C>T (p.Thr208Ile) n.439C>T c.626C>T (p.Thr209Ile) c.377C>T (p.Thr126Ile) | |
| 2 | g.199349074G>C | CA350388111 | SATB2 | c.446C>G (p.Thr149Ser) c.800C>G (p.Thr267Ser) c.347-76402C>G (n.347-76402C>G) c.454C>G c.623C>G (p.Thr208Ser) n.439C>G c.626C>G (p.Thr209Ser) c.377C>G (p.Thr126Ser) | |
| 2 | g.199349074G>T | CA350388112 | SATB2 | c.446C>A (p.Thr149Asn) c.800C>A (p.Thr267Asn) c.347-76402C>A (n.347-76402C>A) c.454C>A c.623C>A (p.Thr208Asn) n.439C>A c.626C>A (p.Thr209Asn) c.377C>A (p.Thr126Asn) | |
| 2 | g.199349075T>A | CA350388113 | SATB2 | c.445A>T (p.Thr149Ser) c.799A>T (p.Thr267Ser) c.347-76403A>T (n.347-76403A>T) c.453A>T c.622A>T (p.Thr208Ser) n.438A>T c.625A>T (p.Thr209Ser) c.376A>T (p.Thr126Ser) | |
| 2 | g.199349075T>C | CA350388114 | SATB2 | c.445A>G (p.Thr149Ala) c.799A>G (p.Thr267Ala) c.347-76403A>G (n.347-76403A>G) c.453A>G c.622A>G (p.Thr208Ala) n.438A>G c.625A>G (p.Thr209Ala) c.376A>G (p.Thr126Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.199349075T>G | CA350388115 | SATB2 | c.445A>C (p.Thr149Pro) c.799A>C (p.Thr267Pro) c.347-76403A>C (n.347-76403A>C) c.453A>C c.622A>C (p.Thr208Pro) n.438A>C c.625A>C (p.Thr209Pro) c.376A>C (p.Thr126Pro) | |
| 2 | g.199349075T= | CA1320151736 | SATB2 | c.445A= (p.Thr149=) c.799A= (p.Thr267=) c.347-76403A= (n.347-76403A=) c.453A= c.622A= (p.Thr208=) n.438A= c.625A= (p.Thr209=) c.376A= (p.Thr126=) | |
| 2 | g.199349076T>A | CA350388116 | SATB2 | c.444A>T (p.Lys148Asn) c.798A>T (p.Lys266Asn) c.347-76404A>T (n.347-76404A>T) c.452A>T c.621A>T (p.Lys207Asn) n.437A>T c.624A>T (p.Lys208Asn) c.375A>T (p.Lys125Asn) | |
| 2 | g.199349076T>C | CA430835454 | SATB2 | c.444A>G (p.Lys148=) c.798A>G (p.Lys266=) c.347-76404A>G (n.347-76404A>G) c.452A>G c.621A>G (p.Lys207=) n.437A>G c.624A>G (p.Lys208=) c.375A>G (p.Lys125=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.199349076T>G | CA350388117 | SATB2 | c.444A>C (p.Lys148Asn) c.798A>C (p.Lys266Asn) c.347-76404A>C (n.347-76404A>C) c.452A>C c.621A>C (p.Lys207Asn) n.437A>C c.624A>C (p.Lys208Asn) c.375A>C (p.Lys125Asn) | |
| 2 | g.199349076T= | CA1320151737 | SATB2 | c.444A= (p.Lys148=) c.798A= (p.Lys266=) c.347-76404A= (n.347-76404A=) c.452A= c.621A= (p.Lys207=) n.437A= c.624A= (p.Lys208=) c.375A= (p.Lys125=) | |
| 2 | g.199349077T>A | CA350388118 | SATB2 | c.443A>T (p.Lys148Ile) c.797A>T (p.Lys266Ile) c.347-76405A>T (n.347-76405A>T) c.451A>T c.620A>T (p.Lys207Ile) n.436A>T c.623A>T (p.Lys208Ile) c.374A>T (p.Lys125Ile) | |
| 2 | g.199349077T>C | CA350388120 | SATB2 | c.443A>G (p.Lys148Arg) c.797A>G (p.Lys266Arg) c.347-76405A>G (n.347-76405A>G) c.451A>G c.620A>G (p.Lys207Arg) n.436A>G c.623A>G (p.Lys208Arg) c.374A>G (p.Lys125Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.199349077T>G | CA350388119 | SATB2 | c.443A>C (p.Lys148Thr) c.797A>C (p.Lys266Thr) c.347-76405A>C (n.347-76405A>C) c.451A>C c.620A>C (p.Lys207Thr) n.436A>C c.623A>C (p.Lys208Thr) c.374A>C (p.Lys125Thr) | |
| 2 | g.199349077T= | CA1320151738 | SATB2 | c.443A= (p.Lys148=) c.797A= (p.Lys266=) c.347-76405A= (n.347-76405A=) c.451A= c.620A= (p.Lys207=) n.436A= c.623A= (p.Lys208=) c.374A= (p.Lys125=) | |
| 2 | g.199349078T>A | CA350388121 | SATB2 | c.442A>T (p.Lys148Ter) c.796A>T (p.Lys266Ter) c.347-76406A>T (n.347-76406A>T) c.450A>T c.619A>T (p.Lys207Ter) n.435A>T c.622A>T (p.Lys208Ter) c.373A>T (p.Lys125Ter) | |
| 2 | g.199349078T>C | CA350388122 | SATB2 | c.442A>G (p.Lys148Glu) c.796A>G (p.Lys266Glu) c.347-76406A>G (n.347-76406A>G) c.450A>G c.619A>G (p.Lys207Glu) n.435A>G c.622A>G (p.Lys208Glu) c.373A>G (p.Lys125Glu) | |
| 2 | g.199349078T>G | CA350388123 | SATB2 | c.442A>C (p.Lys148Gln) c.796A>C (p.Lys266Gln) c.347-76406A>C (n.347-76406A>C) c.450A>C c.619A>C (p.Lys207Gln) n.435A>C c.622A>C (p.Lys208Gln) c.373A>C (p.Lys125Gln) | |
| 2 | g.199349079C>A | CA430835456 | SATB2 | c.441G>T (p.Gly147=) c.795G>T (p.Gly265=) c.347-76407G>T (n.347-76407G>T) c.449G>T c.618G>T (p.Gly206=) n.434G>T c.621G>T (p.Gly207=) c.372G>T (p.Gly124=) | |
| 2 | g.199349079C= | CA1320151739 | SATB2 | c.441G= (p.Gly147=) c.795G= (p.Gly265=) c.347-76407G= (n.347-76407G=) c.449G= c.618G= (p.Gly206=) n.434G= c.621G= (p.Gly207=) c.372G= (p.Gly124=) | |
| 2 | g.199349079C>G | CA430835457 | SATB2 | c.441G>C (p.Gly147=) c.795G>C (p.Gly265=) c.347-76407G>C (n.347-76407G>C) c.449G>C c.618G>C (p.Gly206=) n.434G>C c.621G>C (p.Gly207=) c.372G>C (p.Gly124=) | |
| 2 | g.199349079C>T | CA2046003 | SATB2 | c.441G>A (p.Gly147=) c.795G>A (p.Gly265=) c.347-76407G>A (n.347-76407G>A) c.449G>A c.618G>A (p.Gly206=) n.434G>A c.621G>A (p.Gly207=) c.372G>A (p.Gly124=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.199349080C>A | CA350388124 | SATB2 | c.440G>T (p.Gly147Val) c.794G>T (p.Gly265Val) c.347-76408G>T (n.347-76408G>T) c.448G>T c.617G>T (p.Gly206Val) n.433G>T c.620G>T (p.Gly207Val) c.371G>T (p.Gly124Val) | |
| 2 | g.199349080C>G | CA350388125 | SATB2 | c.440G>C (p.Gly147Ala) c.794G>C (p.Gly265Ala) c.347-76408G>C (n.347-76408G>C) c.448G>C c.617G>C (p.Gly206Ala) n.433G>C c.620G>C (p.Gly207Ala) c.371G>C (p.Gly124Ala) | |
| 2 | g.199349080C>T | CA350388126 | SATB2 | c.440G>A (p.Gly147Glu) c.794G>A (p.Gly265Glu) c.347-76408G>A (n.347-76408G>A) c.448G>A c.617G>A (p.Gly206Glu) n.433G>A c.620G>A (p.Gly207Glu) c.371G>A (p.Gly124Glu) | |
| 2 | g.199349081C>A | CA350388127 | SATB2 | c.439G>T (p.Gly147Trp) c.793G>T (p.Gly265Trp) c.347-76409G>T (n.347-76409G>T) c.447G>T c.616G>T (p.Gly206Trp) n.432G>T c.619G>T (p.Gly207Trp) c.370G>T (p.Gly124Trp) | |
| 2 | g.199349081C>G | CA350388128 | SATB2 | c.439G>C (p.Gly147Arg) c.793G>C (p.Gly265Arg) c.347-76409G>C (n.347-76409G>C) c.447G>C c.616G>C (p.Gly206Arg) n.432G>C c.619G>C (p.Gly207Arg) c.370G>C (p.Gly124Arg) | |
| 2 | g.199349081C>T | CA350388129 | SATB2 | c.439G>A (p.Gly147Arg) c.793G>A (p.Gly265Arg) c.347-76409G>A (n.347-76409G>A) c.447G>A c.616G>A (p.Gly206Arg) n.432G>A c.619G>A (p.Gly207Arg) c.370G>A (p.Gly124Arg) | |
| 2 | g.199349082C>A | CA430835461 | SATB2 | c.438G>T (p.Leu146=) c.792G>T (p.Leu264=) c.347-76410G>T (n.347-76410G>T) c.446G>T c.615G>T (p.Leu205=) n.431G>T c.618G>T (p.Leu206=) c.369G>T (p.Leu123=) | |
| 2 | g.199349082C>G | CA430835462 | SATB2 | c.438G>C (p.Leu146=) c.792G>C (p.Leu264=) c.347-76410G>C (n.347-76410G>C) c.446G>C c.615G>C (p.Leu205=) n.431G>C c.618G>C (p.Leu206=) c.369G>C (p.Leu123=) | |
| 2 | g.199349082C>T | CA430835463 | SATB2 | c.438G>A (p.Leu146=) c.792G>A (p.Leu264=) c.347-76410G>A (n.347-76410G>A) c.446G>A c.615G>A (p.Leu205=) n.431G>A c.618G>A (p.Leu206=) c.369G>A (p.Leu123=) | ClinVar |
| 2 | g.199349083A>C | CA350388132 | SATB2 | c.437T>G (p.Leu146Arg) c.791T>G (p.Leu264Arg) c.347-76411T>G (n.347-76411T>G) c.445T>G c.614T>G (p.Leu205Arg) n.430T>G c.617T>G (p.Leu206Arg) c.368T>G (p.Leu123Arg) | |
| 2 | g.199349083A>G | CA350388131 | SATB2 | c.437T>C (p.Leu146Pro) c.791T>C (p.Leu264Pro) c.347-76411T>C (n.347-76411T>C) c.445T>C c.614T>C (p.Leu205Pro) n.430T>C c.617T>C (p.Leu206Pro) c.368T>C (p.Leu123Pro) | |
| 2 | g.199349083A>T | CA350388130 | SATB2 | c.437T>A (p.Leu146Gln) c.791T>A (p.Leu264Gln) c.347-76411T>A (n.347-76411T>A) c.445T>A c.614T>A (p.Leu205Gln) n.430T>A c.617T>A (p.Leu206Gln) c.368T>A (p.Leu123Gln) | gnomAD v4 |
| 2 | g.199349084G>A | CA430835464 | SATB2 | c.436C>T (p.Leu146=) c.790C>T (p.Leu264=) c.347-76412C>T (n.347-76412C>T) c.444C>T c.613C>T (p.Leu205=) n.429C>T c.616C>T (p.Leu206=) c.367C>T (p.Leu123=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.199349084G>C | CA350388133 | SATB2 | c.436C>G (p.Leu146Val) c.790C>G (p.Leu264Val) c.347-76412C>G (n.347-76412C>G) c.444C>G c.613C>G (p.Leu205Val) n.429C>G c.616C>G (p.Leu206Val) c.367C>G (p.Leu123Val) | |
| 2 | g.199349084G= | CA1320151740 | SATB2 | c.436C= (p.Leu146=) c.790C= (p.Leu264=) c.347-76412C= (n.347-76412C=) c.444C= c.613C= (p.Leu205=) n.429C= c.616C= (p.Leu206=) c.367C= (p.Leu123=) | |
| 2 | g.199349084G>T | CA350388134 | SATB2 | c.436C>A (p.Leu146Met) c.790C>A (p.Leu264Met) c.347-76412C>A (n.347-76412C>A) c.444C>A c.613C>A (p.Leu205Met) n.429C>A c.616C>A (p.Leu206Met) c.367C>A (p.Leu123Met) | |
| 2 | g.199349085G>A | CA430835465 | SATB2 | c.435C>T (p.Ser145=) c.789C>T (p.Ser263=) c.347-76413C>T (n.347-76413C>T) c.443C>T c.612C>T (p.Ser204=) n.428C>T c.615C>T (p.Ser205=) c.366C>T (p.Ser122=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.199349085G>C | CA2046004 | SATB2 | c.435C>G (p.Ser145=) c.789C>G (p.Ser263=) c.347-76413C>G (n.347-76413C>G) c.443C>G c.612C>G (p.Ser204=) n.428C>G c.615C>G (p.Ser205=) c.366C>G (p.Ser122=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.199349085G= | CA1320151741 | SATB2 | c.435C= (p.Ser145=) c.789C= (p.Ser263=) c.347-76413C= (n.347-76413C=) c.443C= c.612C= (p.Ser204=) n.428C= c.615C= (p.Ser205=) c.366C= (p.Ser122=) | |
| 2 | g.199349085G>T | CA430835466 | SATB2 | c.435C>A (p.Ser145=) c.789C>A (p.Ser263=) c.347-76413C>A (n.347-76413C>A) c.443C>A c.612C>A (p.Ser204=) n.428C>A c.615C>A (p.Ser205=) c.366C>A (p.Ser122=) | |
| 2 | g.199349086G>A | CA350388135 | SATB2 | c.434C>T (p.Ser145Phe) c.788C>T (p.Ser263Phe) c.347-76414C>T (n.347-76414C>T) c.442C>T c.611C>T (p.Ser204Phe) n.427C>T c.614C>T (p.Ser205Phe) c.365C>T (p.Ser122Phe) | |
| 2 | g.199349086G>C | CA350388136 | SATB2 | c.434C>G (p.Ser145Cys) c.788C>G (p.Ser263Cys) c.347-76414C>G (n.347-76414C>G) c.442C>G c.611C>G (p.Ser204Cys) n.427C>G c.614C>G (p.Ser205Cys) c.365C>G (p.Ser122Cys) | |
| 2 | g.199349086G>T | CA350388137 | SATB2 | c.434C>A (p.Ser145Tyr) c.788C>A (p.Ser263Tyr) c.347-76414C>A (n.347-76414C>A) c.442C>A c.611C>A (p.Ser204Tyr) n.427C>A c.614C>A (p.Ser205Tyr) c.365C>A (p.Ser122Tyr) | |
| 2 | g.199349087A= | CA1320151742 | SATB2 | c.433T= (p.Ser145=) c.787T= (p.Ser263=) c.347-76415T= (n.347-76415T=) c.441T= c.610T= (p.Ser204=) n.426T= c.613T= (p.Ser205=) c.364T= (p.Ser122=) | |
| 2 | g.199349087A>C | CA350388138 | SATB2 | c.433T>G (p.Ser145Ala) c.787T>G (p.Ser263Ala) c.347-76415T>G (n.347-76415T>G) c.441T>G c.610T>G (p.Ser204Ala) n.426T>G c.613T>G (p.Ser205Ala) c.364T>G (p.Ser122Ala) | |
| 2 | g.199349087A>G | CA2046005 | SATB2 | c.433T>C (p.Ser145Pro) c.787T>C (p.Ser263Pro) c.347-76415T>C (n.347-76415T>C) c.441T>C c.610T>C (p.Ser204Pro) n.426T>C c.613T>C (p.Ser205Pro) c.364T>C (p.Ser122Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.199349087A>T | CA350388139 | SATB2 | c.433T>A (p.Ser145Thr) c.787T>A (p.Ser263Thr) c.347-76415T>A (n.347-76415T>A) c.441T>A c.610T>A (p.Ser204Thr) n.426T>A c.613T>A (p.Ser205Thr) c.364T>A (p.Ser122Thr) | |
| 2 | g.199349088T>A | CA430835467 | SATB2 | c.432A>T (p.Ala144=) c.786A>T (p.Ala262=) c.347-76416A>T (n.347-76416A>T) c.440A>T c.609A>T (p.Ala203=) n.425A>T c.612A>T (p.Ala204=) c.363A>T (p.Ala121=) | |
| 2 | g.199349088T>C | CA430835468 | SATB2 | c.432A>G (p.Ala144=) c.786A>G (p.Ala262=) c.347-76416A>G (n.347-76416A>G) c.440A>G c.609A>G (p.Ala203=) n.425A>G c.612A>G (p.Ala204=) c.363A>G (p.Ala121=) | gnomAD v4 |
| 2 | g.199349088T>G | CA430835469 | SATB2 | c.432A>C (p.Ala144=) c.786A>C (p.Ala262=) c.347-76416A>C (n.347-76416A>C) c.440A>C c.609A>C (p.Ala203=) n.425A>C c.612A>C (p.Ala204=) c.363A>C (p.Ala121=) | |
| 2 | g.199349089G>A | CA350388140 | SATB2 | c.431C>T (p.Ala144Val) c.785C>T (p.Ala262Val) c.347-76417C>T (n.347-76417C>T) c.439C>T c.608C>T (p.Ala203Val) n.424C>T c.611C>T (p.Ala204Val) c.362C>T (p.Ala121Val) | COSMIC |
| 2 | g.199349089G>C | CA350388141 | SATB2 | c.431C>G (p.Ala144Gly) c.785C>G (p.Ala262Gly) c.347-76417C>G (n.347-76417C>G) c.439C>G c.608C>G (p.Ala203Gly) n.424C>G c.611C>G (p.Ala204Gly) c.362C>G (p.Ala121Gly) | |
| 2 | g.199349089G>T | CA350388142 | SATB2 | c.431C>A (p.Ala144Glu) c.785C>A (p.Ala262Glu) c.347-76417C>A (n.347-76417C>A) c.439C>A c.608C>A (p.Ala203Glu) n.424C>A c.611C>A (p.Ala204Glu) c.362C>A (p.Ala121Glu) | |
| 2 | g.199349090C>A | CA350388144 | SATB2 | c.430G>T (p.Ala144Ser) c.784G>T (p.Ala262Ser) c.347-76418G>T (n.347-76418G>T) c.438G>T c.607G>T (p.Ala203Ser) n.423G>T c.610G>T (p.Ala204Ser) c.361G>T (p.Ala121Ser) | |
| 2 | g.199349090C>G | CA350388145 | SATB2 | c.430G>C (p.Ala144Pro) c.784G>C (p.Ala262Pro) c.347-76418G>C (n.347-76418G>C) c.438G>C c.607G>C (p.Ala203Pro) n.423G>C c.610G>C (p.Ala204Pro) c.361G>C (p.Ala121Pro) | gnomAD v4 |
| 2 | g.199349090C>T | CA350388143 | SATB2 | c.430G>A (p.Ala144Thr) c.784G>A (p.Ala262Thr) c.347-76418G>A (n.347-76418G>A) c.438G>A c.607G>A (p.Ala203Thr) n.423G>A c.610G>A (p.Ala204Thr) c.361G>A (p.Ala121Thr) | gnomAD v4 COSMIC |
| 2 | g.199349091C>A | CA430835470 | SATB2 | c.429G>T (p.Leu143=) c.783G>T (p.Leu261=) c.347-76419G>T (n.347-76419G>T) c.437G>T c.606G>T (p.Leu202=) n.422G>T c.609G>T (p.Leu203=) c.360G>T (p.Leu120=) | |
| 2 | g.199349091C>G | CA430835471 | SATB2 | c.429G>C (p.Leu143=) c.783G>C (p.Leu261=) c.347-76419G>C (n.347-76419G>C) c.437G>C c.606G>C (p.Leu202=) n.422G>C c.609G>C (p.Leu203=) c.360G>C (p.Leu120=) | |
| 2 | g.199349091C>T | CA430835472 | SATB2 | c.429G>A (p.Leu143=) c.783G>A (p.Leu261=) c.347-76419G>A (n.347-76419G>A) c.437G>A c.606G>A (p.Leu202=) n.422G>A c.609G>A (p.Leu203=) c.360G>A (p.Leu120=) | |
| 2 | g.199349092A>C | CA350388148 | SATB2 | c.428T>G (p.Leu143Arg) c.782T>G (p.Leu261Arg) c.347-76420T>G (n.347-76420T>G) c.436T>G c.605T>G (p.Leu202Arg) n.421T>G c.608T>G (p.Leu203Arg) c.359T>G (p.Leu120Arg) | |
| 2 | g.199349092A>G | CA350388146 | SATB2 | c.428T>C (p.Leu143Pro) c.782T>C (p.Leu261Pro) c.347-76420T>C (n.347-76420T>C) c.436T>C c.605T>C (p.Leu202Pro) n.421T>C c.608T>C (p.Leu203Pro) c.359T>C (p.Leu120Pro) | |
| 2 | g.199349092A>T | CA350388147 | SATB2 | c.428T>A (p.Leu143Gln) c.782T>A (p.Leu261Gln) c.347-76420T>A (n.347-76420T>A) c.436T>A c.605T>A (p.Leu202Gln) n.421T>A c.608T>A (p.Leu203Gln) c.359T>A (p.Leu120Gln) | |
| 2 | g.199349093G>A | CA430835473 | SATB2 | c.427C>T (p.Leu143=) c.781C>T (p.Leu261=) c.347-76421C>T (n.347-76421C>T) c.435C>T c.604C>T (p.Leu202=) n.420C>T c.607C>T (p.Leu203=) c.358C>T (p.Leu120=) | |
| 2 | g.199349093G>C | CA350388149 | SATB2 | c.427C>G (p.Leu143Val) c.781C>G (p.Leu261Val) c.347-76421C>G (n.347-76421C>G) c.435C>G c.604C>G (p.Leu202Val) n.420C>G c.607C>G (p.Leu203Val) c.358C>G (p.Leu120Val) | |
| 2 | g.199349093G>T | CA350388150 | SATB2 | c.427C>A (p.Leu143Met) c.781C>A (p.Leu261Met) c.347-76421C>A (n.347-76421C>A) c.435C>A c.604C>A (p.Leu202Met) n.420C>A c.607C>A (p.Leu203Met) c.358C>A (p.Leu120Met) | |
| 2 | g.199349094C>A | CA350388151 | SATB2 | c.426G>T (p.Gln142His) c.780G>T (p.Gln260His) c.347-76422G>T (n.347-76422G>T) c.434G>T c.603G>T (p.Gln201His) n.419G>T c.606G>T (p.Gln202His) c.357G>T (p.Gln119His) | |
| 2 | g.199349094C>G | CA350388152 | SATB2 | c.426G>C (p.Gln142His) c.780G>C (p.Gln260His) c.347-76422G>C (n.347-76422G>C) c.434G>C c.603G>C (p.Gln201His) n.419G>C c.606G>C (p.Gln202His) c.357G>C (p.Gln119His) | |
| 2 | g.199349094C>T | CA430835474 | SATB2 | c.426G>A (p.Gln142=) c.780G>A (p.Gln260=) c.347-76422G>A (n.347-76422G>A) c.434G>A c.603G>A (p.Gln201=) n.419G>A c.606G>A (p.Gln202=) c.357G>A (p.Gln119=) | |
| 2 | g.199349095T>A | CA350388153 | SATB2 | c.425A>T (p.Gln142Leu) c.779A>T (p.Gln260Leu) c.347-76423A>T (n.347-76423A>T) c.433A>T c.602A>T (p.Gln201Leu) n.418A>T c.605A>T (p.Gln202Leu) c.356A>T (p.Gln119Leu) | |
| 2 | g.199349095T>C | CA350388154 | SATB2 | c.425A>G (p.Gln142Arg) c.779A>G (p.Gln260Arg) c.347-76423A>G (n.347-76423A>G) c.433A>G c.602A>G (p.Gln201Arg) n.418A>G c.605A>G (p.Gln202Arg) c.356A>G (p.Gln119Arg) | |
| 2 | g.199349095T>G | CA350388155 | SATB2 | c.425A>C (p.Gln142Pro) c.779A>C (p.Gln260Pro) c.347-76423A>C (n.347-76423A>C) c.433A>C c.602A>C (p.Gln201Pro) n.418A>C c.605A>C (p.Gln202Pro) c.356A>C (p.Gln119Pro) | ClinVar |
| 2 | g.199349096G>A | CA350388156 | SATB2 | c.424C>T (p.Gln142Ter) c.778C>T (p.Gln260Ter) c.347-76424C>T (n.347-76424C>T) c.432C>T c.601C>T (p.Gln201Ter) n.417C>T c.604C>T (p.Gln202Ter) c.355C>T (p.Gln119Ter) | |
| 2 | g.199349096G>C | CA350388157 | SATB2 | c.424C>G (p.Gln142Glu) c.778C>G (p.Gln260Glu) c.347-76424C>G (n.347-76424C>G) c.432C>G c.601C>G (p.Gln201Glu) n.417C>G c.604C>G (p.Gln202Glu) c.355C>G (p.Gln119Glu) | |
| 2 | g.199349096G>T | CA350388158 | SATB2 | c.424C>A (p.Gln142Lys) c.778C>A (p.Gln260Lys) c.347-76424C>A (n.347-76424C>A) c.432C>A c.601C>A (p.Gln201Lys) n.417C>A c.604C>A (p.Gln202Lys) c.355C>A (p.Gln119Lys) | |
| 2 | g.199349097G>A | CA64251734 | SATB2 | c.423C>T (p.Asn141=) c.777C>T (p.Asn259=) c.347-76425C>T (n.347-76425C>T) c.431C>T c.600C>T (p.Asn200=) n.416C>T c.603C>T (p.Asn201=) c.354C>T (p.Asn118=) | dbSNP gnomAD v4 |
| 2 | g.199349097G>C | CA350388159 | SATB2 | c.423C>G (p.Asn141Lys) c.777C>G (p.Asn259Lys) c.347-76425C>G (n.347-76425C>G) c.431C>G c.600C>G (p.Asn200Lys) n.416C>G c.603C>G (p.Asn201Lys) c.354C>G (p.Asn118Lys) | |
| 2 | g.199349097G= | CA1320151743 | SATB2 | c.423C= (p.Asn141=) c.777C= (p.Asn259=) c.347-76425C= (n.347-76425C=) c.431C= c.600C= (p.Asn200=) n.416C= c.603C= (p.Asn201=) c.354C= (p.Asn118=) | |
| 2 | g.199349097G>T | CA350388160 | SATB2 | c.423C>A (p.Asn141Lys) c.777C>A (p.Asn259Lys) c.347-76425C>A (n.347-76425C>A) c.431C>A c.600C>A (p.Asn200Lys) n.416C>A c.603C>A (p.Asn201Lys) c.354C>A (p.Asn118Lys) | |
| 2 | g.199349098T>A | CA350388161 | SATB2 | c.422A>T (p.Asn141Ile) c.776A>T (p.Asn259Ile) c.347-76426A>T (n.347-76426A>T) c.430A>T c.599A>T (p.Asn200Ile) n.415A>T c.602A>T (p.Asn201Ile) c.353A>T (p.Asn118Ile) | |
| 2 | g.199349098T>C | CA350388162 | SATB2 | c.422A>G (p.Asn141Ser) c.776A>G (p.Asn259Ser) c.347-76426A>G (n.347-76426A>G) c.430A>G c.599A>G (p.Asn200Ser) n.415A>G c.602A>G (p.Asn201Ser) c.353A>G (p.Asn118Ser) | ClinVar dbSNP gnomAD v4 |
| 2 | g.199349098T>G | CA350388163 | SATB2 | c.422A>C (p.Asn141Thr) c.776A>C (p.Asn259Thr) c.347-76426A>C (n.347-76426A>C) c.430A>C c.599A>C (p.Asn200Thr) n.415A>C c.602A>C (p.Asn201Thr) c.353A>C (p.Asn118Thr) | |
| 2 | g.199349099T>A | CA350388164 | SATB2 | c.421A>T (p.Asn141Tyr) c.775A>T (p.Asn259Tyr) c.347-76427A>T (n.347-76427A>T) c.429A>T c.598A>T (p.Asn200Tyr) n.414A>T c.601A>T (p.Asn201Tyr) c.352A>T (p.Asn118Tyr) | |
| 2 | g.199349099T>C | CA350388165 | SATB2 | c.421A>G (p.Asn141Asp) c.775A>G (p.Asn259Asp) c.347-76427A>G (n.347-76427A>G) c.429A>G c.598A>G (p.Asn200Asp) n.414A>G c.601A>G (p.Asn201Asp) c.352A>G (p.Asn118Asp) | |
| 2 | g.199349099T>G | CA350388166 | SATB2 | c.421A>C (p.Asn141His) c.775A>C (p.Asn259His) c.347-76427A>C (n.347-76427A>C) c.429A>C c.598A>C (p.Asn200His) n.414A>C c.601A>C (p.Asn201His) c.352A>C (p.Asn118His) | |
| 2 | g.199349100C>A | CA350388167 | SATB2 | c.420G>T (p.Met140Ile) c.774G>T (p.Met258Ile) c.347-76428G>T (n.347-76428G>T) c.428G>T c.597G>T (p.Met199Ile) n.413G>T c.600G>T (p.Met200Ile) c.351G>T (p.Met117Ile) | |
| 2 | g.199349100C>G | CA350388168 | SATB2 | c.420G>C (p.Met140Ile) c.774G>C (p.Met258Ile) c.347-76428G>C (n.347-76428G>C) c.428G>C c.597G>C (p.Met199Ile) n.413G>C c.600G>C (p.Met200Ile) c.351G>C (p.Met117Ile) | |
| 2 | g.199349100C>T | CA350388169 | SATB2 | c.420G>A (p.Met140Ile) c.774G>A (p.Met258Ile) c.347-76428G>A (n.347-76428G>A) c.428G>A c.597G>A (p.Met199Ile) n.413G>A c.600G>A (p.Met200Ile) c.351G>A (p.Met117Ile) | |
| 2 | g.199349101A>C | CA350388170 | SATB2 | c.419T>G (p.Met140Arg) c.773T>G (p.Met258Arg) c.347-76429T>G (n.347-76429T>G) c.427T>G c.596T>G (p.Met199Arg) n.412T>G c.599T>G (p.Met200Arg) c.350T>G (p.Met117Arg) | |
| 2 | g.199349101A>G | CA350388171 | SATB2 | c.419T>C (p.Met140Thr) c.773T>C (p.Met258Thr) c.347-76429T>C (n.347-76429T>C) c.427T>C c.596T>C (p.Met199Thr) n.412T>C c.599T>C (p.Met200Thr) c.350T>C (p.Met117Thr) | ClinVar gnomAD v4 |
| 2 | g.199349101A>T | CA350388172 | SATB2 | c.419T>A (p.Met140Lys) c.773T>A (p.Met258Lys) c.347-76429T>A (n.347-76429T>A) c.427T>A c.596T>A (p.Met199Lys) n.412T>A c.599T>A (p.Met200Lys) c.350T>A (p.Met117Lys) | |
| 2 | g.199349102T>A | CA350388174 | SATB2 | c.418A>T (p.Met140Leu) c.772A>T (p.Met258Leu) c.347-76430A>T (n.347-76430A>T) c.426A>T c.595A>T (p.Met199Leu) n.411A>T c.598A>T (p.Met200Leu) c.349A>T (p.Met117Leu) | |
| 2 | g.199349102T>C | CA2046006 | SATB2 | c.418A>G (p.Met140Val) c.772A>G (p.Met258Val) c.347-76430A>G (n.347-76430A>G) c.426A>G c.595A>G (p.Met199Val) n.411A>G c.598A>G (p.Met200Val) c.349A>G (p.Met117Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.199349102T>G | CA350388173 | SATB2 | c.418A>C (p.Met140Leu) c.772A>C (p.Met258Leu) c.347-76430A>C (n.347-76430A>C) c.426A>C c.595A>C (p.Met199Leu) n.411A>C c.598A>C (p.Met200Leu) c.349A>C (p.Met117Leu) | |
| 2 | g.199349102T= | CA1320151744 | SATB2 | c.418A= (p.Met140=) c.772A= (p.Met258=) c.347-76430A= (n.347-76430A=) c.426A= c.595A= (p.Met199=) n.411A= c.598A= (p.Met200=) c.349A= (p.Met117=) | |
| 2 | g.199349103A= | CA1320151745 | SATB2 | c.417T= (p.Asn139=) c.771T= (p.Asn257=) c.347-76431T= (n.347-76431T=) c.425T= c.594T= (p.Asn198=) n.410T= c.597T= (p.Asn199=) c.348T= (p.Asn116=) | |
| 2 | g.199349103A>C | CA64251735 | SATB2 | c.417T>G (p.Asn139Lys) c.771T>G (p.Asn257Lys) c.347-76431T>G (n.347-76431T>G) c.425T>G c.594T>G (p.Asn198Lys) n.410T>G c.597T>G (p.Asn199Lys) c.348T>G (p.Asn116Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.199349103A>G | CA430835475 | SATB2 | c.417T>C (p.Asn139=) c.771T>C (p.Asn257=) c.347-76431T>C (n.347-76431T>C) c.425T>C c.594T>C (p.Asn198=) n.410T>C c.597T>C (p.Asn199=) c.348T>C (p.Asn116=) | |
| 2 | g.199349103A>T | CA350388175 | SATB2 | c.417T>A (p.Asn139Lys) c.771T>A (p.Asn257Lys) c.347-76431T>A (n.347-76431T>A) c.425T>A c.594T>A (p.Asn198Lys) n.410T>A c.597T>A (p.Asn199Lys) c.348T>A (p.Asn116Lys) | |
| 2 | g.199349104T>A | CA350388176 | SATB2 | c.416A>T (p.Asn139Ile) c.770A>T (p.Asn257Ile) c.347-76432A>T (n.347-76432A>T) c.424A>T c.593A>T (p.Asn198Ile) n.409A>T c.596A>T (p.Asn199Ile) c.347A>T (p.Asn116Ile) | |
| 2 | g.199349104T>C | CA350388177 | SATB2 | c.416A>G (p.Asn139Ser) c.770A>G (p.Asn257Ser) c.347-76432A>G (n.347-76432A>G) c.424A>G c.593A>G (p.Asn198Ser) n.409A>G c.596A>G (p.Asn199Ser) c.347A>G (p.Asn116Ser) | ClinVar dbSNP gnomAD v4 |
| 2 | g.199349104T>G | CA350388178 | SATB2 | c.416A>C (p.Asn139Thr) c.770A>C (p.Asn257Thr) c.347-76432A>C (n.347-76432A>C) c.424A>C c.593A>C (p.Asn198Thr) n.409A>C c.596A>C (p.Asn199Thr) c.347A>C (p.Asn116Thr) | |
| 2 | g.199349105T>A | CA350388179 | SATB2 | c.415A>T (p.Asn139Tyr) c.769A>T (p.Asn257Tyr) c.347-76433A>T (n.347-76433A>T) c.423A>T c.592A>T (p.Asn198Tyr) n.408A>T c.595A>T (p.Asn199Tyr) c.346A>T (p.Asn116Tyr) | |
| 2 | g.199349105T>C | CA350388180 | SATB2 | c.415A>G (p.Asn139Asp) c.769A>G (p.Asn257Asp) c.347-76433A>G (n.347-76433A>G) c.423A>G c.592A>G (p.Asn198Asp) n.408A>G c.595A>G (p.Asn199Asp) c.346A>G (p.Asn116Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.199349105T>G | CA350388181 | SATB2 | c.415A>C (p.Asn139His) c.769A>C (p.Asn257His) c.347-76433A>C (n.347-76433A>C) c.423A>C c.592A>C (p.Asn198His) n.408A>C c.595A>C (p.Asn199His) c.346A>C (p.Asn116His) | |
| 2 | g.199349105T= | CA1320151746 | SATB2 | c.415A= (p.Asn139=) c.769A= (p.Asn257=) c.347-76433A= (n.347-76433A=) c.423A= c.592A= (p.Asn198=) n.408A= c.595A= (p.Asn199=) c.346A= (p.Asn116=) | |
| 2 | g.199349106T>A | CA430835476 | SATB2 | c.414A>T (p.Pro138=) c.768A>T (p.Pro256=) c.347-76434A>T (n.347-76434A>T) c.422A>T c.591A>T (p.Pro197=) n.407A>T c.594A>T (p.Pro198=) c.345A>T (p.Pro115=) | |
| 2 | g.199349106T>C | CA430835477 | SATB2 | c.414A>G (p.Pro138=) c.768A>G (p.Pro256=) c.347-76434A>G (n.347-76434A>G) c.422A>G c.591A>G (p.Pro197=) n.407A>G c.594A>G (p.Pro198=) c.345A>G (p.Pro115=) | gnomAD v4 |
| 2 | g.199349106T>G | CA430835478 | SATB2 | c.414A>C (p.Pro138=) c.768A>C (p.Pro256=) c.347-76434A>C (n.347-76434A>C) c.422A>C c.591A>C (p.Pro197=) n.407A>C c.594A>C (p.Pro198=) c.345A>C (p.Pro115=) | |
| 2 | g.199349107G>A | CA350388182 | SATB2 | c.413C>T (p.Pro138Leu) c.767C>T (p.Pro256Leu) c.347-76435C>T (n.347-76435C>T) c.421C>T c.590C>T (p.Pro197Leu) n.406C>T c.593C>T (p.Pro198Leu) c.344C>T (p.Pro115Leu) | |
| 2 | g.199349107G>C | CA350388183 | SATB2 | c.413C>G (p.Pro138Arg) c.767C>G (p.Pro256Arg) c.347-76435C>G (n.347-76435C>G) c.421C>G c.590C>G (p.Pro197Arg) n.406C>G c.593C>G (p.Pro198Arg) c.344C>G (p.Pro115Arg) | |
| 2 | g.199349107G>T | CA350388184 | SATB2 | c.413C>A (p.Pro138Gln) c.767C>A (p.Pro256Gln) c.347-76435C>A (n.347-76435C>A) c.421C>A c.590C>A (p.Pro197Gln) n.406C>A c.593C>A (p.Pro198Gln) c.344C>A (p.Pro115Gln) | |
| 2 | g.199349108G>A | CA350388185 | SATB2 | c.412C>T (p.Pro138Ser) c.766C>T (p.Pro256Ser) c.347-76436C>T (n.347-76436C>T) c.420C>T c.589C>T (p.Pro197Ser) n.405C>T c.592C>T (p.Pro198Ser) c.343C>T (p.Pro115Ser) | |
| 2 | g.199349108G>C | CA350388186 | SATB2 | c.412C>G (p.Pro138Ala) c.766C>G (p.Pro256Ala) c.347-76436C>G (n.347-76436C>G) c.420C>G c.589C>G (p.Pro197Ala) n.405C>G c.592C>G (p.Pro198Ala) c.343C>G (p.Pro115Ala) | |
| 2 | g.199349108G>T | CA350388187 | SATB2 | c.412C>A (p.Pro138Thr) c.766C>A (p.Pro256Thr) c.347-76436C>A (n.347-76436C>A) c.420C>A c.589C>A (p.Pro197Thr) n.405C>A c.592C>A (p.Pro198Thr) c.343C>A (p.Pro115Thr) | |
| 2 | g.199349109T>A | CA350388188 | SATB2 | c.411A>T (p.Leu137Phe) c.765A>T (p.Leu255Phe) c.347-76437A>T (n.347-76437A>T) c.419A>T c.588A>T (p.Leu196Phe) n.404A>T c.591A>T (p.Leu197Phe) c.342A>T (p.Leu114Phe) | |
| 2 | g.199349109T>C | CA430835479 | SATB2 | c.411A>G (p.Leu137=) c.765A>G (p.Leu255=) c.347-76437A>G (n.347-76437A>G) c.419A>G c.588A>G (p.Leu196=) n.404A>G c.591A>G (p.Leu197=) c.342A>G (p.Leu114=) | |
| 2 | g.199349109T>G | CA350388189 | SATB2 | c.411A>C (p.Leu137Phe) c.765A>C (p.Leu255Phe) c.347-76437A>C (n.347-76437A>C) c.419A>C c.588A>C (p.Leu196Phe) n.404A>C c.591A>C (p.Leu197Phe) c.342A>C (p.Leu114Phe) | |
| 2 | g.199349110_199349113dup | CA2739279405 | SATB2 | c.408_411dup (p.Pro138PhefsTer?) c.762_765dup (p.Pro256PhefsTer?) c.347-76440_347-76437dup (n.347-76440_347-76437dup) c.416_419dup c.585_588dup (p.Pro197PhefsTer?) n.401_404dup c.588_591dup (p.Pro198PhefsTer?) c.339_342dup (p.Pro115PhefsTer?) | ClinVar |
| 2 | g.199349110A>C | CA350388190 | SATB2 | c.410T>G (p.Leu137Ter) c.764T>G (p.Leu255Ter) c.347-76438T>G (n.347-76438T>G) c.418T>G c.587T>G (p.Leu196Ter) n.403T>G c.590T>G (p.Leu197Ter) c.341T>G (p.Leu114Ter) | |
| 2 | g.199349110A>G | CA350388191 | SATB2 | c.410T>C (p.Leu137Ser) c.764T>C (p.Leu255Ser) c.347-76438T>C (n.347-76438T>C) c.418T>C c.587T>C (p.Leu196Ser) n.403T>C c.590T>C (p.Leu197Ser) c.341T>C (p.Leu114Ser) | |
| 2 | g.199349110A>T | CA350388192 | SATB2 | c.410T>A (p.Leu137Ter) c.764T>A (p.Leu255Ter) c.347-76438T>A (n.347-76438T>A) c.418T>A c.587T>A (p.Leu196Ter) n.403T>A c.590T>A (p.Leu197Ter) c.341T>A (p.Leu114Ter) | |
| 2 | g.199349111A>C | CA350388193 | SATB2 | c.409T>G (p.Leu137Val) c.763T>G (p.Leu255Val) c.347-76439T>G (n.347-76439T>G) c.417T>G c.586T>G (p.Leu196Val) n.402T>G c.589T>G (p.Leu197Val) c.340T>G (p.Leu114Val) | |
| 2 | g.199349111A>G | CA430835480 | SATB2 | c.409T>C (p.Leu137=) c.763T>C (p.Leu255=) c.347-76439T>C (n.347-76439T>C) c.417T>C c.586T>C (p.Leu196=) n.402T>C c.589T>C (p.Leu197=) c.340T>C (p.Leu114=) | |
| 2 | g.199349111A>T | CA350388194 | SATB2 | c.409T>A (p.Leu137Ile) c.763T>A (p.Leu255Ile) c.347-76439T>A (n.347-76439T>A) c.417T>A c.586T>A (p.Leu196Ile) n.402T>A c.589T>A (p.Leu197Ile) c.340T>A (p.Leu114Ile) | |
| 2 | g.199349112A>C | CA350388195 | SATB2 | c.408T>G (p.His136Gln) c.762T>G (p.His254Gln) c.347-76440T>G (n.347-76440T>G) c.416T>G c.585T>G (p.His195Gln) n.401T>G c.588T>G (p.His196Gln) c.339T>G (p.His113Gln) | |
| 2 | g.199349112A>G | CA430835481 | SATB2 | c.408T>C (p.His136=) c.762T>C (p.His254=) c.347-76440T>C (n.347-76440T>C) c.416T>C c.585T>C (p.His195=) n.401T>C c.588T>C (p.His196=) c.339T>C (p.His113=) | |
| 2 | g.199349112A>T | CA350388196 | SATB2 | c.408T>A (p.His136Gln) c.762T>A (p.His254Gln) c.347-76440T>A (n.347-76440T>A) c.416T>A c.585T>A (p.His195Gln) n.401T>A c.588T>A (p.His196Gln) c.339T>A (p.His113Gln) | |
| 2 | g.199349113T>A | CA350388197 | SATB2 | c.407A>T (p.His136Leu) c.761A>T (p.His254Leu) c.347-76441A>T (n.347-76441A>T) c.415A>T c.584A>T (p.His195Leu) n.400A>T c.587A>T (p.His196Leu) c.338A>T (p.His113Leu) | |
| 2 | g.199349113T>C | CA64251736 | SATB2 | c.407A>G (p.His136Arg) c.761A>G (p.His254Arg) c.347-76441A>G (n.347-76441A>G) c.415A>G c.584A>G (p.His195Arg) n.400A>G c.587A>G (p.His196Arg) c.338A>G (p.His113Arg) | dbSNP |
| 2 | g.199349113T>G | CA350388198 | SATB2 | c.407A>C (p.His136Pro) c.761A>C (p.His254Pro) c.347-76441A>C (n.347-76441A>C) c.415A>C c.584A>C (p.His195Pro) n.400A>C c.587A>C (p.His196Pro) c.338A>C (p.His113Pro) | |
| 2 | g.199349113T= | CA1320151747 | SATB2 | c.407A= (p.His136=) c.761A= (p.His254=) c.347-76441A= (n.347-76441A=) c.415A= c.584A= (p.His195=) n.400A= c.587A= (p.His196=) c.338A= (p.His113=) | |
| 2 | g.199349114G>A | CA350388199 | SATB2 | c.406C>T (p.His136Tyr) c.760C>T (p.His254Tyr) c.347-76442C>T (n.347-76442C>T) c.414C>T c.583C>T (p.His195Tyr) n.399C>T c.586C>T (p.His196Tyr) c.337C>T (p.His113Tyr) | |
| 2 | g.199349114G>C | CA350388200 | SATB2 | c.406C>G (p.His136Asp) c.760C>G (p.His254Asp) c.347-76442C>G (n.347-76442C>G) c.414C>G c.583C>G (p.His195Asp) n.399C>G c.586C>G (p.His196Asp) c.337C>G (p.His113Asp) | |
| 2 | g.199349114G>T | CA350388201 | SATB2 | c.406C>A (p.His136Asn) c.760C>A (p.His254Asn) c.347-76442C>A (n.347-76442C>A) c.414C>A c.583C>A (p.His195Asn) n.399C>A c.586C>A (p.His196Asn) c.337C>A (p.His113Asn) | |
| 2 | g.199349115C>A | CA350388204 | SATB2 | c.405G>T (p.Met135Ile) c.759G>T (p.Met253Ile) c.347-76443G>T (n.347-76443G>T) c.413G>T c.582G>T (p.Met194Ile) n.398G>T c.585G>T (p.Met195Ile) c.336G>T (p.Met112Ile) | |
| 2 | g.199349115C= | CA1320151748 | SATB2 | c.405G= (p.Met135=) c.759G= (p.Met253=) c.347-76443G= (n.347-76443G=) c.413G= c.582G= (p.Met194=) n.398G= c.585G= (p.Met195=) c.336G= (p.Met112=) | |
| 2 | g.199349115C>G | CA350388203 | SATB2 | c.405G>C (p.Met135Ile) c.759G>C (p.Met253Ile) c.347-76443G>C (n.347-76443G>C) c.413G>C c.582G>C (p.Met194Ile) n.398G>C c.585G>C (p.Met195Ile) c.336G>C (p.Met112Ile) | |
| 2 | g.199349115C>T | CA350388202 | SATB2 | c.405G>A (p.Met135Ile) c.759G>A (p.Met253Ile) c.347-76443G>A (n.347-76443G>A) c.413G>A c.582G>A (p.Met194Ile) n.398G>A c.585G>A (p.Met195Ile) c.336G>A (p.Met112Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.199349116A>C | CA350388205 | SATB2 | c.404T>G (p.Met135Arg) c.758T>G (p.Met253Arg) c.347-76444T>G (n.347-76444T>G) c.412T>G c.581T>G (p.Met194Arg) n.397T>G c.584T>G (p.Met195Arg) c.335T>G (p.Met112Arg) | |
| 2 | g.199349116A>G | CA350388207 | SATB2 | c.404T>C (p.Met135Thr) c.758T>C (p.Met253Thr) c.347-76444T>C (n.347-76444T>C) c.412T>C c.581T>C (p.Met194Thr) n.397T>C c.584T>C (p.Met195Thr) c.335T>C (p.Met112Thr) | gnomAD v4 |
| 2 | g.199349116A>T | CA350388206 | SATB2 | c.404T>A (p.Met135Lys) c.758T>A (p.Met253Lys) c.347-76444T>A (n.347-76444T>A) c.412T>A c.581T>A (p.Met194Lys) n.397T>A c.584T>A (p.Met195Lys) c.335T>A (p.Met112Lys) | gnomAD v4 |
| 2 | g.199349117T>A | CA350388208 | SATB2 | c.403A>T (p.Met135Leu) c.757A>T (p.Met253Leu) c.347-76445A>T (n.347-76445A>T) c.411A>T c.580A>T (p.Met194Leu) n.396A>T c.583A>T (p.Met195Leu) c.334A>T (p.Met112Leu) | |
| 2 | g.199349117T>C | CA2046007 | SATB2 | c.403A>G (p.Met135Val) c.757A>G (p.Met253Val) c.347-76445A>G (n.347-76445A>G) c.411A>G c.580A>G (p.Met194Val) n.396A>G c.583A>G (p.Met195Val) c.334A>G (p.Met112Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.199349117T>G | CA350388209 | SATB2 | c.403A>C (p.Met135Leu) c.757A>C (p.Met253Leu) c.347-76445A>C (n.347-76445A>C) c.411A>C c.580A>C (p.Met194Leu) n.396A>C c.583A>C (p.Met195Leu) c.334A>C (p.Met112Leu) | |
| 2 | g.199349117T= | CA1320151749 | SATB2 | c.403A= (p.Met135=) c.757A= (p.Met253=) c.347-76445A= (n.347-76445A=) c.411A= c.580A= (p.Met194=) n.396A= c.583A= (p.Met195=) c.334A= (p.Met112=) | |
| 2 | g.199349118T>A | CA430835483 | SATB2 | c.402A>T (p.Pro134=) c.756A>T (p.Pro252=) c.347-76446A>T (n.347-76446A>T) c.410A>T c.579A>T (p.Pro193=) n.395A>T c.582A>T (p.Pro194=) c.333A>T (p.Pro111=) | |
| 2 | g.199349118T>C | CA2046008 | SATB2 | c.402A>G (p.Pro134=) c.756A>G (p.Pro252=) c.347-76446A>G (n.347-76446A>G) c.410A>G c.579A>G (p.Pro193=) n.395A>G c.582A>G (p.Pro194=) c.333A>G (p.Pro111=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.199349118T>G | CA430835482 | SATB2 | c.402A>C (p.Pro134=) c.756A>C (p.Pro252=) c.347-76446A>C (n.347-76446A>C) c.410A>C c.579A>C (p.Pro193=) n.395A>C c.582A>C (p.Pro194=) c.333A>C (p.Pro111=) | |
| 2 | g.199349118T= | CA1320151750 | SATB2 | c.402A= (p.Pro134=) c.756A= (p.Pro252=) c.347-76446A= (n.347-76446A=) c.410A= c.579A= (p.Pro193=) n.395A= c.582A= (p.Pro194=) c.333A= (p.Pro111=) | |
| 2 | g.199349119G>A | CA350388210 | SATB2 | c.401C>T (p.Pro134Leu) c.755C>T (p.Pro252Leu) c.347-76447C>T (n.347-76447C>T) c.409C>T c.578C>T (p.Pro193Leu) n.394C>T c.581C>T (p.Pro194Leu) c.332C>T (p.Pro111Leu) | dbSNP |
| 2 | g.199349119G>C | CA350388211 | SATB2 | c.401C>G (p.Pro134Arg) c.755C>G (p.Pro252Arg) c.347-76447C>G (n.347-76447C>G) c.409C>G c.578C>G (p.Pro193Arg) n.394C>G c.581C>G (p.Pro194Arg) c.332C>G (p.Pro111Arg) | |
| 2 | g.199349119G= | CA1320151751 | SATB2 | c.401C= (p.Pro134=) c.755C= (p.Pro252=) c.347-76447C= (n.347-76447C=) c.409C= c.578C= (p.Pro193=) n.394C= c.581C= (p.Pro194=) c.332C= (p.Pro111=) | |
| 2 | g.199349119G>T | CA350388212 | SATB2 | c.401C>A (p.Pro134Gln) c.755C>A (p.Pro252Gln) c.347-76447C>A (n.347-76447C>A) c.409C>A c.578C>A (p.Pro193Gln) n.394C>A c.581C>A (p.Pro194Gln) c.332C>A (p.Pro111Gln) | |
| 2 | g.199349120G>A | CA350388213 | SATB2 | c.400C>T (p.Pro134Ser) c.754C>T (p.Pro252Ser) c.347-76448C>T (n.347-76448C>T) c.408C>T c.577C>T (p.Pro193Ser) n.393C>T c.580C>T (p.Pro194Ser) c.331C>T (p.Pro111Ser) | |
| 2 | g.199349120G>C | CA2046009 | SATB2 | c.400C>G (p.Pro134Ala) c.754C>G (p.Pro252Ala) c.347-76448C>G (n.347-76448C>G) c.408C>G c.577C>G (p.Pro193Ala) n.393C>G c.580C>G (p.Pro194Ala) c.331C>G (p.Pro111Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.199349120G= | CA1320151752 | SATB2 | c.400C= (p.Pro134=) c.754C= (p.Pro252=) c.347-76448C= (n.347-76448C=) c.408C= c.577C= (p.Pro193=) n.393C= c.580C= (p.Pro194=) c.331C= (p.Pro111=) | |
| 2 | g.199349120G>T | CA350388214 | SATB2 | c.400C>A (p.Pro134Thr) c.754C>A (p.Pro252Thr) c.347-76448C>A (n.347-76448C>A) c.408C>A c.577C>A (p.Pro193Thr) n.393C>A c.580C>A (p.Pro194Thr) c.331C>A (p.Pro111Thr) | gnomAD v4 |
| 2 | g.199349121A= | CA1320151753 | SATB2 | c.399T= (p.Arg133=) c.753T= (p.Arg251=) c.347-76449T= (n.347-76449T=) c.407T= c.576T= (p.Arg192=) n.392T= c.579T= (p.Arg193=) c.330T= (p.Arg110=) | |
| 2 | g.199349121A>C | CA430835484 | SATB2 | c.399T>G (p.Arg133=) c.753T>G (p.Arg251=) c.347-76449T>G (n.347-76449T>G) c.407T>G c.576T>G (p.Arg192=) n.392T>G c.579T>G (p.Arg193=) c.330T>G (p.Arg110=) | |
| 2 | g.199349121A>G | CA430835485 | SATB2 | c.399T>C (p.Arg133=) c.753T>C (p.Arg251=) c.347-76449T>C (n.347-76449T>C) c.407T>C c.576T>C (p.Arg192=) n.392T>C c.579T>C (p.Arg193=) c.330T>C (p.Arg110=) | |
| 2 | g.199349121A>T | CA430835486 | SATB2 | c.399T>A (p.Arg133=) c.753T>A (p.Arg251=) c.347-76449T>A (n.347-76449T>A) c.407T>A c.576T>A (p.Arg192=) n.392T>A c.579T>A (p.Arg193=) c.330T>A (p.Arg110=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.199349122C>A | CA350388215 | SATB2 | c.398G>T (p.Arg133Leu) c.752G>T (p.Arg251Leu) c.347-76450G>T (n.347-76450G>T) c.406G>T c.575G>T (p.Arg192Leu) n.391G>T c.578G>T (p.Arg193Leu) c.329G>T (p.Arg110Leu) | |
| 2 | g.199349122C>G | CA350388216 | SATB2 | c.398G>C (p.Arg133Pro) c.752G>C (p.Arg251Pro) c.347-76450G>C (n.347-76450G>C) c.406G>C c.575G>C (p.Arg192Pro) n.391G>C c.578G>C (p.Arg193Pro) c.329G>C (p.Arg110Pro) | |
| 2 | g.199349122C>T | CA350388217 | SATB2 | c.398G>A (p.Arg133His) c.752G>A (p.Arg251His) c.347-76450G>A (n.347-76450G>A) c.406G>A c.575G>A (p.Arg192His) n.391G>A c.578G>A (p.Arg193His) c.329G>A (p.Arg110His) | ClinVar dbSNP gnomAD v4 |
| 2 | g.199349123G>A | CA350388220 | SATB2 | c.397C>T (p.Arg133Cys) c.751C>T (p.Arg251Cys) c.347-76451C>T (n.347-76451C>T) c.405C>T c.574C>T (p.Arg192Cys) n.390C>T c.577C>T (p.Arg193Cys) c.328C>T (p.Arg110Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.199349123G>C | CA350388219 | SATB2 | c.397C>G (p.Arg133Gly) c.751C>G (p.Arg251Gly) c.347-76451C>G (n.347-76451C>G) c.405C>G c.574C>G (p.Arg192Gly) n.390C>G c.577C>G (p.Arg193Gly) c.328C>G (p.Arg110Gly) | COSMIC |
| 2 | g.199349123G= | CA1320151754 | SATB2 | c.397C= (p.Arg133=) c.751C= (p.Arg251=) c.347-76451C= (n.347-76451C=) c.405C= c.574C= (p.Arg192=) n.390C= c.577C= (p.Arg193=) c.328C= (p.Arg110=) | |
| 2 | g.199349123G>T | CA350388218 | SATB2 | c.397C>A (p.Arg133Ser) c.751C>A (p.Arg251Ser) c.347-76451C>A (n.347-76451C>A) c.405C>A c.574C>A (p.Arg192Ser) n.390C>A c.577C>A (p.Arg193Ser) c.328C>A (p.Arg110Ser) | |
| 2 | g.199349124C>A | CA350388221 | SATB2 | c.396G>T (p.Gln132His) c.750G>T (p.Gln250His) c.347-76452G>T (n.347-76452G>T) c.404G>T c.573G>T (p.Gln191His) n.389G>T c.576G>T (p.Gln192His) c.327G>T (p.Gln109His) | |
| 2 | g.199349124C= | CA1320151755 | SATB2 | c.396G= (p.Gln132=) c.750G= (p.Gln250=) c.347-76452G= (n.347-76452G=) c.404G= c.573G= (p.Gln191=) n.389G= c.576G= (p.Gln192=) c.327G= (p.Gln109=) | |
| 2 | g.199349124C>G | CA350388222 | SATB2 | c.396G>C (p.Gln132His) c.750G>C (p.Gln250His) c.347-76452G>C (n.347-76452G>C) c.404G>C c.573G>C (p.Gln191His) n.389G>C c.576G>C (p.Gln192His) c.327G>C (p.Gln109His) | |
| 2 | g.199349124C>T | CA430790545 | SATB2 | c.396G>A (p.Gln132=) c.750G>A (p.Gln250=) c.347-76452G>A (n.347-76452G>A) c.404G>A c.573G>A (p.Gln191=) n.389G>A c.576G>A (p.Gln192=) c.327G>A (p.Gln109=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.199349125T>A | CA350388223 | SATB2 | c.395A>T (p.Gln132Leu) c.749A>T (p.Gln250Leu) c.347-76453A>T (n.347-76453A>T) c.403A>T c.572A>T (p.Gln191Leu) n.388A>T c.575A>T (p.Gln192Leu) c.326A>T (p.Gln109Leu) | |
| 2 | g.199349125T>C | CA350388224 | SATB2 | c.395A>G (p.Gln132Arg) c.749A>G (p.Gln250Arg) c.347-76453A>G (n.347-76453A>G) c.403A>G c.572A>G (p.Gln191Arg) n.388A>G c.575A>G (p.Gln192Arg) c.326A>G (p.Gln109Arg) | |
| 2 | g.199349125T>G | CA350388225 | SATB2 | c.395A>C (p.Gln132Pro) c.749A>C (p.Gln250Pro) c.347-76453A>C (n.347-76453A>C) c.403A>C c.572A>C (p.Gln191Pro) n.388A>C c.575A>C (p.Gln192Pro) c.326A>C (p.Gln109Pro) | |
| 2 | g.199349126G>A | CA350388226 | SATB2 | c.394C>T (p.Gln132Ter) c.748C>T (p.Gln250Ter) c.347-76454C>T (n.347-76454C>T) c.402C>T c.571C>T (p.Gln191Ter) n.387C>T c.574C>T (p.Gln192Ter) c.325C>T (p.Gln109Ter) | ClinVar dbSNP |
| 2 | g.199349126G>C | CA350388227 | SATB2 | c.394C>G (p.Gln132Glu) c.748C>G (p.Gln250Glu) c.347-76454C>G (n.347-76454C>G) c.402C>G c.571C>G (p.Gln191Glu) n.387C>G c.574C>G (p.Gln192Glu) c.325C>G (p.Gln109Glu) | |
| 2 | g.199349126G= | CA1320151756 | SATB2 | c.394C= (p.Gln132=) c.748C= (p.Gln250=) c.347-76454C= (n.347-76454C=) c.402C= c.571C= (p.Gln191=) n.387C= c.574C= (p.Gln192=) c.325C= (p.Gln109=) | |
| 2 | g.199349126G>T | CA350388228 | SATB2 | c.394C>A (p.Gln132Lys) c.748C>A (p.Gln250Lys) c.347-76454C>A (n.347-76454C>A) c.402C>A c.571C>A (p.Gln191Lys) n.387C>A c.574C>A (p.Gln192Lys) c.325C>A (p.Gln109Lys) | COSMIC |
| 2 | g.199349127G>A | CA430790548 | SATB2 | c.393C>T (p.Gly131=) c.747C>T (p.Gly249=) c.347-76455C>T (n.347-76455C>T) c.401C>T c.570C>T (p.Gly190=) n.386C>T c.573C>T (p.Gly191=) c.324C>T (p.Gly108=) | |
| 2 | g.199349127G>C | CA430790550 | SATB2 | c.393C>G (p.Gly131=) c.747C>G (p.Gly249=) c.347-76455C>G (n.347-76455C>G) c.401C>G c.570C>G (p.Gly190=) n.386C>G c.573C>G (p.Gly191=) c.324C>G (p.Gly108=) | |
| 2 | g.199349127G>T | CA430790552 | SATB2 | c.393C>A (p.Gly131=) c.747C>A (p.Gly249=) c.347-76455C>A (n.347-76455C>A) c.401C>A c.570C>A (p.Gly190=) n.386C>A c.573C>A (p.Gly191=) c.324C>A (p.Gly108=) | |
| 2 | g.199349128C>A | CA350388229 | SATB2 | c.392G>T (p.Gly131Val) c.746G>T (p.Gly249Val) c.347-76456G>T (n.347-76456G>T) c.400G>T c.569G>T (p.Gly190Val) n.385G>T c.572G>T (p.Gly191Val) c.323G>T (p.Gly108Val) | |
| 2 | g.199349128C>G | CA350388230 | SATB2 | c.392G>C (p.Gly131Ala) c.746G>C (p.Gly249Ala) c.347-76456G>C (n.347-76456G>C) c.400G>C c.569G>C (p.Gly190Ala) n.385G>C c.572G>C (p.Gly191Ala) c.323G>C (p.Gly108Ala) | |
| 2 | g.199349128C>T | CA350388231 | SATB2 | c.392G>A (p.Gly131Asp) c.746G>A (p.Gly249Asp) c.347-76456G>A (n.347-76456G>A) c.400G>A c.569G>A (p.Gly190Asp) n.385G>A c.572G>A (p.Gly191Asp) c.323G>A (p.Gly108Asp) | |
| 2 | g.199349129C>A | CA350388234 | SATB2 | c.391G>T (p.Gly131Cys) c.745G>T (p.Gly249Cys) c.347-76457G>T (n.347-76457G>T) c.399G>T c.568G>T (p.Gly190Cys) n.384G>T c.571G>T (p.Gly191Cys) c.322G>T (p.Gly108Cys) | COSMIC |
| 2 | g.199349129C>G | CA350388233 | SATB2 | c.391G>C (p.Gly131Arg) c.745G>C (p.Gly249Arg) c.347-76457G>C (n.347-76457G>C) c.399G>C c.568G>C (p.Gly190Arg) n.384G>C c.571G>C (p.Gly191Arg) c.322G>C (p.Gly108Arg) | |
| 2 | g.199349129C>T | CA350388232 | SATB2 | c.391G>A (p.Gly131Ser) c.745G>A (p.Gly249Ser) c.347-76457G>A (n.347-76457G>A) c.399G>A c.568G>A (p.Gly190Ser) n.384G>A c.571G>A (p.Gly191Ser) c.322G>A (p.Gly108Ser) | |
| 2 | g.199349130C>A | CA430790560 | SATB2 | c.390G>T (p.Leu130=) c.744G>T (p.Leu248=) c.347-76458G>T (n.347-76458G>T) c.398G>T c.567G>T (p.Leu189=) n.383G>T c.570G>T (p.Leu190=) c.321G>T (p.Leu107=) | |
| 2 | g.199349130C>G | CA430790562 | SATB2 | c.390G>C (p.Leu130=) c.744G>C (p.Leu248=) c.347-76458G>C (n.347-76458G>C) c.398G>C c.567G>C (p.Leu189=) n.383G>C c.570G>C (p.Leu190=) c.321G>C (p.Leu107=) | |
| 2 | g.199349130C>T | CA430790564 | SATB2 | c.390G>A (p.Leu130=) c.744G>A (p.Leu248=) c.347-76458G>A (n.347-76458G>A) c.398G>A c.567G>A (p.Leu189=) n.383G>A c.570G>A (p.Leu190=) c.321G>A (p.Leu107=) | |
| 2 | g.199349131A= | CA1320151757 | SATB2 | c.389T= (p.Leu130=) c.743T= (p.Leu248=) c.347-76459T= (n.347-76459T=) c.397T= c.566T= (p.Leu189=) n.382T= c.569T= (p.Leu190=) c.320T= (p.Leu107=) | |
| 2 | g.199349131A>C | CA2046010 | SATB2 | c.389T>G (p.Leu130Arg) c.743T>G (p.Leu248Arg) c.347-76459T>G (n.347-76459T>G) c.397T>G c.566T>G (p.Leu189Arg) n.382T>G c.569T>G (p.Leu190Arg) c.320T>G (p.Leu107Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.199349131A>G | CA350388235 | SATB2 | c.389T>C (p.Leu130Pro) c.743T>C (p.Leu248Pro) c.347-76459T>C (n.347-76459T>C) c.397T>C c.566T>C (p.Leu189Pro) n.382T>C c.569T>C (p.Leu190Pro) c.320T>C (p.Leu107Pro) | dbSNP |
| 2 | g.199349131A>T | CA350388236 | SATB2 | c.389T>A (p.Leu130Gln) c.743T>A (p.Leu248Gln) c.347-76459T>A (n.347-76459T>A) c.397T>A c.566T>A (p.Leu189Gln) n.382T>A c.569T>A (p.Leu190Gln) c.320T>A (p.Leu107Gln) | |
| 2 | g.199349132G>A | CA430790577 | SATB2 | c.388C>T (p.Leu130=) c.742C>T (p.Leu248=) c.347-76460C>T (n.347-76460C>T) c.396C>T c.565C>T (p.Leu189=) n.381C>T c.568C>T (p.Leu190=) c.319C>T (p.Leu107=) | |
| 2 | g.199349132G>C | CA350388237 | SATB2 | c.388C>G (p.Leu130Val) c.742C>G (p.Leu248Val) c.347-76460C>G (n.347-76460C>G) c.396C>G c.565C>G (p.Leu189Val) n.381C>G c.568C>G (p.Leu190Val) c.319C>G (p.Leu107Val) | |
| 2 | g.199349132G>T | CA350388238 | SATB2 | c.388C>A (p.Leu130Met) c.742C>A (p.Leu248Met) c.347-76460C>A (n.347-76460C>A) c.396C>A c.565C>A (p.Leu189Met) n.381C>A c.568C>A (p.Leu190Met) c.319C>A (p.Leu107Met) | |
| 2 | g.199349133A= | CA1320151758 | SATB2 | c.387T= (p.Val129=) c.741T= (p.Val247=) c.347-76461T= (n.347-76461T=) c.395T= c.564T= (p.Val188=) n.380T= c.567T= (p.Val189=) c.318T= (p.Val106=) | |
| 2 | g.199349133A>C | CA430790585 | SATB2 | c.387T>G (p.Val129=) c.741T>G (p.Val247=) c.347-76461T>G (n.347-76461T>G) c.395T>G c.564T>G (p.Val188=) n.380T>G c.567T>G (p.Val189=) c.318T>G (p.Val106=) | |
| 2 | g.199349133A>G | CA2046011 | SATB2 | c.387T>C (p.Val129=) c.741T>C (p.Val247=) c.347-76461T>C (n.347-76461T>C) c.395T>C c.564T>C (p.Val188=) n.380T>C c.567T>C (p.Val189=) c.318T>C (p.Val106=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.199349133A>T | CA430790589 | SATB2 | c.387T>A (p.Val129=) c.741T>A (p.Val247=) c.347-76461T>A (n.347-76461T>A) c.395T>A c.564T>A (p.Val188=) n.380T>A c.567T>A (p.Val189=) c.318T>A (p.Val106=) | |
| 2 | g.199349134A>C | CA350388239 | SATB2 | c.386T>G (p.Val129Gly) c.740T>G (p.Val247Gly) c.347-76462T>G (n.347-76462T>G) c.394T>G c.563T>G (p.Val188Gly) n.379T>G c.566T>G (p.Val189Gly) c.317T>G (p.Val106Gly) | |
| 2 | g.199349134A>G | CA350388240 | SATB2 | c.386T>C (p.Val129Ala) c.740T>C (p.Val247Ala) c.347-76462T>C (n.347-76462T>C) c.394T>C c.563T>C (p.Val188Ala) n.379T>C c.566T>C (p.Val189Ala) c.317T>C (p.Val106Ala) | |
| 2 | g.199349134A>T | CA350388241 | SATB2 | c.386T>A (p.Val129Asp) c.740T>A (p.Val247Asp) c.347-76462T>A (n.347-76462T>A) c.394T>A c.563T>A (p.Val188Asp) n.379T>A c.566T>A (p.Val189Asp) c.317T>A (p.Val106Asp) | |
| 2 | g.199349135C>A | CA350388242 | SATB2 | c.385G>T (p.Val129Phe) c.739G>T (p.Val247Phe) c.347-76463G>T (n.347-76463G>T) c.393G>T c.562G>T (p.Val188Phe) n.378G>T c.565G>T (p.Val189Phe) c.316G>T (p.Val106Phe) | COSMIC |
| 2 | g.199349135C= | CA1320151759 | SATB2 | c.385G= (p.Val129=) c.739G= (p.Val247=) c.347-76463G= (n.347-76463G=) c.393G= c.562G= (p.Val188=) n.378G= c.565G= (p.Val189=) c.316G= (p.Val106=) | |
| 2 | g.199349135C>G | CA350388243 | SATB2 | c.385G>C (p.Val129Leu) c.739G>C (p.Val247Leu) c.347-76463G>C (n.347-76463G>C) c.393G>C c.562G>C (p.Val188Leu) n.378G>C c.565G>C (p.Val189Leu) c.316G>C (p.Val106Leu) | |
| 2 | g.199349135C>T | CA2046012 | SATB2 | c.385G>A (p.Val129Ile) c.739G>A (p.Val247Ile) c.347-76463G>A (n.347-76463G>A) c.393G>A c.562G>A (p.Val188Ile) n.378G>A c.565G>A (p.Val189Ile) c.316G>A (p.Val106Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.199349136A>C | CA350388245 | SATB2 | c.384T>G (p.Cys128Trp) c.738T>G (p.Cys246Trp) c.347-76464T>G (n.347-76464T>G) c.392T>G c.561T>G (p.Cys187Trp) n.377T>G c.564T>G (p.Cys188Trp) c.315T>G (p.Cys105Trp) | |
| 2 | g.199349136A>G | CA430790612 | SATB2 | c.384T>C (p.Cys128=) c.738T>C (p.Cys246=) c.347-76464T>C (n.347-76464T>C) c.392T>C c.561T>C (p.Cys187=) n.377T>C c.564T>C (p.Cys188=) c.315T>C (p.Cys105=) | |
| 2 | g.199349136A>T | CA350388244 | SATB2 | c.384T>A (p.Cys128Ter) c.738T>A (p.Cys246Ter) c.347-76464T>A (n.347-76464T>A) c.392T>A c.561T>A (p.Cys187Ter) n.377T>A c.564T>A (p.Cys188Ter) c.315T>A (p.Cys105Ter) | |
| 2 | g.199349137C>A | CA350388246 | SATB2 | c.383G>T (p.Cys128Phe) c.737G>T (p.Cys246Phe) c.347-76465G>T (n.347-76465G>T) c.391G>T c.560G>T (p.Cys187Phe) n.376G>T c.563G>T (p.Cys188Phe) c.314G>T (p.Cys105Phe) | |
| 2 | g.199349137C= | CA1320151760 | SATB2 | c.383G= (p.Cys128=) c.737G= (p.Cys246=) c.347-76465G= (n.347-76465G=) c.391G= c.560G= (p.Cys187=) n.376G= c.563G= (p.Cys188=) c.314G= (p.Cys105=) | |
| 2 | g.199349137C>G | CA2046013 | SATB2 | c.383G>C (p.Cys128Ser) c.737G>C (p.Cys246Ser) c.347-76465G>C (n.347-76465G>C) c.391G>C c.560G>C (p.Cys187Ser) n.376G>C c.563G>C (p.Cys188Ser) c.314G>C (p.Cys105Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.199349137C>T | CA350388247 | SATB2 | c.383G>A (p.Cys128Tyr) c.737G>A (p.Cys246Tyr) c.347-76465G>A (n.347-76465G>A) c.391G>A c.560G>A (p.Cys187Tyr) n.376G>A c.563G>A (p.Cys188Tyr) c.314G>A (p.Cys105Tyr) | gnomAD v4 |
| 2 | g.199349138A= | CA1320151761 | SATB2 | c.382T= (p.Cys128=) c.736T= (p.Cys246=) c.347-76466T= (n.347-76466T=) c.390T= c.559T= (p.Cys187=) n.375T= c.562T= (p.Cys188=) c.313T= (p.Cys105=) | |
| 2 | g.199349138A>C | CA350388248 | SATB2 | c.382T>G (p.Cys128Gly) c.736T>G (p.Cys246Gly) c.347-76466T>G (n.347-76466T>G) c.390T>G c.559T>G (p.Cys187Gly) n.375T>G c.562T>G (p.Cys188Gly) c.313T>G (p.Cys105Gly) | |
| 2 | g.199349138A>G | CA350388249 | SATB2 | c.382T>C (p.Cys128Arg) c.736T>C (p.Cys246Arg) c.347-76466T>C (n.347-76466T>C) c.390T>C c.559T>C (p.Cys187Arg) n.375T>C c.562T>C (p.Cys188Arg) c.313T>C (p.Cys105Arg) | |
| 2 | g.199349138A>T | CA64251737 | SATB2 | c.382T>A (p.Cys128Ser) c.736T>A (p.Cys246Ser) c.347-76466T>A (n.347-76466T>A) c.390T>A c.559T>A (p.Cys187Ser) n.375T>A c.562T>A (p.Cys188Ser) c.313T>A (p.Cys105Ser) | dbSNP |
| 2 | g.199349139A= | CA1320151762 | SATB2 | c.381T= (p.Tyr127=) c.735T= (p.Tyr245=) c.347-76467T= (n.347-76467T=) c.389T= c.558T= (p.Tyr186=) n.374T= c.561T= (p.Tyr187=) c.312T= (p.Tyr104=) | |
| 2 | g.199349139A>C | CA350388250 | SATB2 | c.381T>G (p.Tyr127Ter) c.735T>G (p.Tyr245Ter) c.347-76467T>G (n.347-76467T>G) c.389T>G c.558T>G (p.Tyr186Ter) n.374T>G c.561T>G (p.Tyr187Ter) c.312T>G (p.Tyr104Ter) | |
| 2 | g.199349139A>G | CA430790628 | SATB2 | c.381T>C (p.Tyr127=) c.735T>C (p.Tyr245=) c.347-76467T>C (n.347-76467T>C) c.389T>C c.558T>C (p.Tyr186=) n.374T>C c.561T>C (p.Tyr187=) c.312T>C (p.Tyr104=) | gnomAD v4 |
| 2 | g.199349139A>T | CA350388251 | SATB2 | c.381T>A (p.Tyr127Ter) c.735T>A (p.Tyr245Ter) c.347-76467T>A (n.347-76467T>A) c.389T>A c.558T>A (p.Tyr186Ter) n.374T>A c.561T>A (p.Tyr187Ter) c.312T>A (p.Tyr104Ter) | |
| 2 | g.199349139_199349140insC | CA2046014 | SATB2 | c.380_381insG (p.Tyr127Ter) c.734_735insG (p.Tyr245Ter) c.347-76468_347-76467insG (n.347-76468_347-76467insG) c.388_389insG c.557_558insG (p.Tyr186Ter) n.373_374insG c.560_561insG (p.Tyr187Ter) c.311_312insG (p.Tyr104Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.199349139_199349140insCTTG | CA538874937 | SATB2 | c.380_381insCAAG (p.Cys128LysfsTer?) c.734_735insCAAG (p.Cys246LysfsTer?) c.347-76468_347-76467insCAAG (n.347-76468_347-76467insCAAG) c.388_389insCAAG c.557_558insCAAG (p.Cys187LysfsTer?) n.373_374insCAAG c.560_561insCAAG (p.Cys188LysfsTer?) c.311_312insCAAG (p.Cys105LysfsTer?) | gnomAD v2 |
| 2 | g.199349140T>A | CA350388252 | SATB2 | c.380A>T (p.Tyr127Phe) c.734A>T (p.Tyr245Phe) c.347-76468A>T (n.347-76468A>T) c.388A>T c.557A>T (p.Tyr186Phe) n.373A>T c.560A>T (p.Tyr187Phe) c.311A>T (p.Tyr104Phe) | |
| 2 | g.199349140T>C | CA350388253 | SATB2 | c.380A>G (p.Tyr127Cys) c.734A>G (p.Tyr245Cys) c.347-76468A>G (n.347-76468A>G) c.388A>G c.557A>G (p.Tyr186Cys) n.373A>G c.560A>G (p.Tyr187Cys) c.311A>G (p.Tyr104Cys) | ClinVar |
| 2 | g.199349140T>G | CA350388254 | SATB2 | c.380A>C (p.Tyr127Ser) c.734A>C (p.Tyr245Ser) c.347-76468A>C (n.347-76468A>C) c.388A>C c.557A>C (p.Tyr186Ser) n.373A>C c.560A>C (p.Tyr187Ser) c.311A>C (p.Tyr104Ser) | |
| 2 | g.199349140T= | CA1320151763 | SATB2 | c.380A= (p.Tyr127=) c.734A= (p.Tyr245=) c.347-76468A= (n.347-76468A=) c.388A= c.557A= (p.Tyr186=) n.373A= c.560A= (p.Tyr187=) c.311A= (p.Tyr104=) | |
| 2 | g.199349140_199349141insTGTA | CA538874938 | SATB2 | c.379_380insTACA (p.Tyr127LeufsTer?) c.733_734insTACA (p.Tyr245LeufsTer?) c.347-76469_347-76468insTACA (n.347-76469_347-76468insTACA) c.387_388insTACA c.556_557insTACA (p.Tyr186LeufsTer?) n.372_373insTACA c.559_560insTACA (p.Tyr187LeufsTer?) c.310_311insTACA (p.Tyr104LeufsTer?) | dbSNP gnomAD v2 |
| 2 | g.199349141A= | CA1320151764 | SATB2 | c.379T= (p.Tyr127=) c.733T= (p.Tyr245=) c.347-76469T= (n.347-76469T=) c.387T= c.556T= (p.Tyr186=) n.372T= c.559T= (p.Tyr187=) c.310T= (p.Tyr104=) | |
| 2 | g.199349141A>C | CA350388255 | SATB2 | c.379T>G (p.Tyr127Asp) c.733T>G (p.Tyr245Asp) c.347-76469T>G (n.347-76469T>G) c.387T>G c.556T>G (p.Tyr186Asp) n.372T>G c.559T>G (p.Tyr187Asp) c.310T>G (p.Tyr104Asp) | |
| 2 | g.199349141A>G | CA350388256 | SATB2 | c.379T>C (p.Tyr127His) c.733T>C (p.Tyr245His) c.347-76469T>C (n.347-76469T>C) c.387T>C c.556T>C (p.Tyr186His) n.372T>C c.559T>C (p.Tyr187His) c.310T>C (p.Tyr104His) | |
| 2 | g.199349141A>T | CA2046015 | SATB2 | c.379T>A (p.Tyr127Asn) c.733T>A (p.Tyr245Asn) c.347-76469T>A (n.347-76469T>A) c.387T>A c.556T>A (p.Tyr186Asn) n.372T>A c.559T>A (p.Tyr187Asn) c.310T>A (p.Tyr104Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.199349142G>A | CA430790647 | SATB2 | c.378C>T (p.Asp126=) c.732C>T (p.Asp244=) c.347-76470C>T (n.347-76470C>T) c.386C>T c.555C>T (p.Asp185=) n.371C>T c.558C>T (p.Asp186=) c.309C>T (p.Asp103=) | |
| 2 | g.199349142G>C | CA350388257 | SATB2 | c.378C>G (p.Asp126Glu) c.732C>G (p.Asp244Glu) c.347-76470C>G (n.347-76470C>G) c.386C>G c.555C>G (p.Asp185Glu) n.371C>G c.558C>G (p.Asp186Glu) c.309C>G (p.Asp103Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.199349142G= | CA1320151765 | SATB2 | c.378C= (p.Asp126=) c.732C= (p.Asp244=) c.347-76470C= (n.347-76470C=) c.386C= c.555C= (p.Asp185=) n.371C= c.558C= (p.Asp186=) c.309C= (p.Asp103=) | |
| 2 | g.199349142G>T | CA2046016 | SATB2 | c.378C>A (p.Asp126Glu) c.732C>A (p.Asp244Glu) c.347-76470C>A (n.347-76470C>A) c.386C>A c.555C>A (p.Asp185Glu) n.371C>A c.558C>A (p.Asp186Glu) c.309C>A (p.Asp103Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.199349143T>A | CA350388258 | SATB2 | c.377A>T (p.Asp126Val) c.731A>T (p.Asp244Val) c.347-76471A>T (n.347-76471A>T) c.385A>T c.554A>T (p.Asp185Val) n.370A>T c.557A>T (p.Asp186Val) c.308A>T (p.Asp103Val) | gnomAD v4 |
| 2 | g.199349143T>C | CA350388259 | SATB2 | c.377A>G (p.Asp126Gly) c.731A>G (p.Asp244Gly) c.347-76471A>G (n.347-76471A>G) c.385A>G c.554A>G (p.Asp185Gly) n.370A>G c.557A>G (p.Asp186Gly) c.308A>G (p.Asp103Gly) | |
| 2 | g.199349143T>G | CA350388260 | SATB2 | c.377A>C (p.Asp126Ala) c.731A>C (p.Asp244Ala) c.347-76471A>C (n.347-76471A>C) c.385A>C c.554A>C (p.Asp185Ala) n.370A>C c.557A>C (p.Asp186Ala) c.308A>C (p.Asp103Ala) | |
| 2 | g.199349144C>A | CA350388261 | SATB2 | c.376G>T (p.Asp126Tyr) c.730G>T (p.Asp244Tyr) c.347-76472G>T (n.347-76472G>T) c.384G>T c.553G>T (p.Asp185Tyr) n.369G>T c.556G>T (p.Asp186Tyr) c.307G>T (p.Asp103Tyr) | |
| 2 | g.199349144C>G | CA350388262 | SATB2 | c.376G>C (p.Asp126His) c.730G>C (p.Asp244His) c.347-76472G>C (n.347-76472G>C) c.384G>C c.553G>C (p.Asp185His) n.369G>C c.556G>C (p.Asp186His) c.307G>C (p.Asp103His) | |
| 2 | g.199349144C>T | CA350388263 | SATB2 | c.376G>A (p.Asp126Asn) c.730G>A (p.Asp244Asn) c.347-76472G>A (n.347-76472G>A) c.384G>A c.553G>A (p.Asp185Asn) n.369G>A c.556G>A (p.Asp186Asn) c.307G>A (p.Asp103Asn) | gnomAD v4 |
| 2 | g.199349145T>A | CA430790668 | SATB2 | c.375A>T (p.Ser125=) c.729A>T (p.Ser243=) c.347-76473A>T (n.347-76473A>T) c.383A>T c.552A>T (p.Ser184=) n.368A>T c.555A>T (p.Ser185=) c.306A>T (p.Ser102=) | |
| 2 | g.199349145T>C | CA430790675 | SATB2 | c.375A>G (p.Ser125=) c.729A>G (p.Ser243=) c.347-76473A>G (n.347-76473A>G) c.383A>G c.552A>G (p.Ser184=) n.368A>G c.555A>G (p.Ser185=) c.306A>G (p.Ser102=) | ClinVar gnomAD v4 |
| 2 | g.199349145T>G | CA430790671 | SATB2 | c.375A>C (p.Ser125=) c.729A>C (p.Ser243=) c.347-76473A>C (n.347-76473A>C) c.383A>C c.552A>C (p.Ser184=) n.368A>C c.555A>C (p.Ser185=) c.306A>C (p.Ser102=) | |
| 2 | g.199349146G>A | CA350388264 | SATB2 | c.374C>T (p.Ser125Leu) c.728C>T (p.Ser243Leu) c.347-76474C>T (n.347-76474C>T) c.382C>T c.551C>T (p.Ser184Leu) n.367C>T c.554C>T (p.Ser185Leu) c.305C>T (p.Ser102Leu) | |
| 2 | g.199349146G>C | CA350388265 | SATB2 | c.374C>G (p.Ser125Ter) c.728C>G (p.Ser243Ter) c.347-76474C>G (n.347-76474C>G) c.382C>G c.551C>G (p.Ser184Ter) n.367C>G c.554C>G (p.Ser185Ter) c.305C>G (p.Ser102Ter) | ClinVar |
| 2 | g.199349146G>T | CA350388266 | SATB2 | c.374C>A (p.Ser125Ter) c.728C>A (p.Ser243Ter) c.347-76474C>A (n.347-76474C>A) c.382C>A c.551C>A (p.Ser184Ter) n.367C>A c.554C>A (p.Ser185Ter) c.305C>A (p.Ser102Ter) | |
| 2 | g.199349147A>C | CA350388267 | SATB2 | c.373T>G (p.Ser125Ala) c.727T>G (p.Ser243Ala) c.347-76475T>G (n.347-76475T>G) c.381T>G c.550T>G (p.Ser184Ala) n.366T>G c.553T>G (p.Ser185Ala) c.304T>G (p.Ser102Ala) | |
| 2 | g.199349147A>G | CA350388268 | SATB2 | c.373T>C (p.Ser125Pro) c.727T>C (p.Ser243Pro) c.347-76475T>C (n.347-76475T>C) c.381T>C c.550T>C (p.Ser184Pro) n.366T>C c.553T>C (p.Ser185Pro) c.304T>C (p.Ser102Pro) | |
| 2 | g.199349147A>T | CA350388269 | SATB2 | c.373T>A (p.Ser125Thr) c.727T>A (p.Ser243Thr) c.347-76475T>A (n.347-76475T>A) c.381T>A c.550T>A (p.Ser184Thr) n.366T>A c.553T>A (p.Ser185Thr) c.304T>A (p.Ser102Thr) | |
| 2 | g.199349148A>C | CA430790684 | SATB2 | c.372T>G (p.Leu124=) c.726T>G (p.Leu242=) c.347-76476T>G (n.347-76476T>G) c.380T>G c.549T>G (p.Leu183=) n.365T>G c.552T>G (p.Leu184=) c.303T>G (p.Leu101=) | |
| 2 | g.199349148A>G | CA430790685 | SATB2 | c.372T>C (p.Leu124=) c.726T>C (p.Leu242=) c.347-76476T>C (n.347-76476T>C) c.380T>C c.549T>C (p.Leu183=) n.365T>C c.552T>C (p.Leu184=) c.303T>C (p.Leu101=) | gnomAD v4 |
| 2 | g.199349148A>T | CA430790688 | SATB2 | c.372T>A (p.Leu124=) c.726T>A (p.Leu242=) c.347-76476T>A (n.347-76476T>A) c.380T>A c.549T>A (p.Leu183=) n.365T>A c.552T>A (p.Leu184=) c.303T>A (p.Leu101=) | |
| 2 | g.199349149A>C | CA350388272 | SATB2 | c.371T>G (p.Leu124Arg) c.725T>G (p.Leu242Arg) c.347-76477T>G (n.347-76477T>G) c.379T>G c.548T>G (p.Leu183Arg) n.364T>G c.551T>G (p.Leu184Arg) c.302T>G (p.Leu101Arg) | |
| 2 | g.199349149A>G | CA350388270 | SATB2 | c.371T>C (p.Leu124Pro) c.725T>C (p.Leu242Pro) c.347-76477T>C (n.347-76477T>C) c.379T>C c.548T>C (p.Leu183Pro) n.364T>C c.551T>C (p.Leu184Pro) c.302T>C (p.Leu101Pro) | |
| 2 | g.199349149A>T | CA350388271 | SATB2 | c.371T>A (p.Leu124His) c.725T>A (p.Leu242His) c.347-76477T>A (n.347-76477T>A) c.379T>A c.548T>A (p.Leu183His) n.364T>A c.551T>A (p.Leu184His) c.302T>A (p.Leu101His) | |
| 2 | g.199349150G>A | CA350388273 | SATB2 | c.370C>T (p.Leu124Phe) c.724C>T (p.Leu242Phe) c.347-76478C>T (n.347-76478C>T) c.378C>T c.547C>T (p.Leu183Phe) n.363C>T c.550C>T (p.Leu184Phe) c.301C>T (p.Leu101Phe) | ClinVar gnomAD v4 |
| 2 | g.199349150G>C | CA350388274 | SATB2 | c.370C>G (p.Leu124Val) c.724C>G (p.Leu242Val) c.347-76478C>G (n.347-76478C>G) c.378C>G c.547C>G (p.Leu183Val) n.363C>G c.550C>G (p.Leu184Val) c.301C>G (p.Leu101Val) | gnomAD v4 |
| 2 | g.199349150G>T | CA350388275 | SATB2 | c.370C>A (p.Leu124Ile) c.724C>A (p.Leu242Ile) c.347-76478C>A (n.347-76478C>A) c.378C>A c.547C>A (p.Leu183Ile) n.363C>A c.550C>A (p.Leu184Ile) c.301C>A (p.Leu101Ile) | |
| 2 | g.199349151G>A | CA2046017 | SATB2 | c.369C>T (p.Asn123=) c.723C>T (p.Asn241=) c.347-76479C>T (n.347-76479C>T) c.377C>T c.546C>T (p.Asn182=) n.362C>T c.549C>T (p.Asn183=) c.300C>T (p.Asn100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.199349151G>C | CA350388276 | SATB2 | c.369C>G (p.Asn123Lys) c.723C>G (p.Asn241Lys) c.347-76479C>G (n.347-76479C>G) c.377C>G c.546C>G (p.Asn182Lys) n.362C>G c.549C>G (p.Asn183Lys) c.300C>G (p.Asn100Lys) | |
| 2 | g.199349151G= | CA1320151766 | SATB2 | c.369C= (p.Asn123=) c.723C= (p.Asn241=) c.347-76479C= (n.347-76479C=) c.377C= c.546C= (p.Asn182=) n.362C= c.549C= (p.Asn183=) c.300C= (p.Asn100=) | |
| 2 | g.199349151G>T | CA350388277 | SATB2 | c.369C>A (p.Asn123Lys) c.723C>A (p.Asn241Lys) c.347-76479C>A (n.347-76479C>A) c.377C>A c.546C>A (p.Asn182Lys) n.362C>A c.549C>A (p.Asn183Lys) c.300C>A (p.Asn100Lys) | ClinVar dbSNP |
| 2 | g.199349151_199349153delinsGTT | CA1320151767 | SATB2 | c.367_369delinsAAC (p.Asn123=) c.721_723delinsAAC (p.Asn241=) c.347-76481_347-76479delinsAAC (n.347-76481_347-76479delinsAAC) c.375_377delinsAAC c.544_546delinsAAC (p.Asn182=) n.360_362delinsAAC c.547_549delinsAAC (p.Asn183=) c.298_300delinsAAC (p.Asn100=) | |
| 2 | g.199349152T>A | CA350388278 | SATB2 | c.368A>T (p.Asn123Ile) c.722A>T (p.Asn241Ile) c.347-76480A>T (n.347-76480A>T) c.376A>T c.545A>T (p.Asn182Ile) n.361A>T c.548A>T (p.Asn183Ile) c.299A>T (p.Asn100Ile) | |
| 2 | g.199349152T>C | CA350388279 | SATB2 | c.368A>G (p.Asn123Ser) c.722A>G (p.Asn241Ser) c.347-76480A>G (n.347-76480A>G) c.376A>G c.545A>G (p.Asn182Ser) n.361A>G c.548A>G (p.Asn183Ser) c.299A>G (p.Asn100Ser) | |
| 2 | g.199349152T>G | CA350388280 | SATB2 | c.368A>C (p.Asn123Thr) c.722A>C (p.Asn241Thr) c.347-76480A>C (n.347-76480A>C) c.376A>C c.545A>C (p.Asn182Thr) n.361A>C c.548A>C (p.Asn183Thr) c.299A>C (p.Asn100Thr) | |
| 2 | g.199349155dup | CA1139657590 | SATB2 | c.368dup (p.Asn123LysfsTer?) c.722dup (p.Asn241LysfsTer?) c.347-76480dup (n.347-76480dup) c.376dup c.545dup (p.Asn182LysfsTer?) n.361dup c.548dup (p.Asn183LysfsTer?) c.299dup (p.Asn100LysfsTer?) | ClinVar dbSNP |
| 2 | g.199349154_199349155del | CA1139657589 | SATB2 | c.367_368del (p.Asn123ProfsTer?) c.721_722del (p.Asn241ProfsTer?) c.347-76481_347-76480del (n.347-76481_347-76480del) c.375_376del c.544_545del (p.Asn182ProfsTer?) n.360_361del c.547_548del (p.Asn183ProfsTer?) c.298_299del (p.Asn100ProfsTer?) | ClinVar dbSNP |
| 2 | g.199349153T>A | CA350388281 | SATB2 | c.367A>T (p.Asn123Tyr) c.721A>T (p.Asn241Tyr) c.347-76481A>T (n.347-76481A>T) c.375A>T c.544A>T (p.Asn182Tyr) n.360A>T c.547A>T (p.Asn183Tyr) c.298A>T (p.Asn100Tyr) | |
| 2 | g.199349153T>C | CA350388282 | SATB2 | c.367A>G (p.Asn123Asp) c.721A>G (p.Asn241Asp) c.347-76481A>G (n.347-76481A>G) c.375A>G c.544A>G (p.Asn182Asp) n.360A>G c.547A>G (p.Asn183Asp) c.298A>G (p.Asn100Asp) | |
| 2 | g.199349153T>G | CA2046018 | SATB2 | c.367A>C (p.Asn123His) c.721A>C (p.Asn241His) c.347-76481A>C (n.347-76481A>C) c.375A>C c.544A>C (p.Asn182His) n.360A>C c.547A>C (p.Asn183His) c.298A>C (p.Asn100His) | dbSNP ExAC gnomAD v4 |
| 2 | g.199349153T= | CA1320151768 | SATB2 | c.367A= (p.Asn123=) c.721A= (p.Asn241=) c.347-76481A= (n.347-76481A=) c.375A= c.544A= (p.Asn182=) n.360A= c.547A= (p.Asn183=) c.298A= (p.Asn100=) | |
| 2 | g.199349154T>A | CA350388284 | SATB2 | c.366A>T (p.Glu122Asp) c.720A>T (p.Glu240Asp) c.347-76482A>T (n.347-76482A>T) c.374A>T c.543A>T (p.Glu181Asp) n.359A>T c.546A>T (p.Glu182Asp) c.297A>T (p.Glu99Asp) | |
| 2 | g.199349154T>C | CA430790724 | SATB2 | c.366A>G (p.Glu122=) c.720A>G (p.Glu240=) c.347-76482A>G (n.347-76482A>G) c.374A>G c.543A>G (p.Glu181=) n.359A>G c.546A>G (p.Glu182=) c.297A>G (p.Glu99=) | |
| 2 | g.199349154T>G | CA350388283 | SATB2 | c.366A>C (p.Glu122Asp) c.720A>C (p.Glu240Asp) c.347-76482A>C (n.347-76482A>C) c.374A>C c.543A>C (p.Glu181Asp) n.359A>C c.546A>C (p.Glu182Asp) c.297A>C (p.Glu99Asp) | |
| 2 | g.199349155T>A | CA350388285 | SATB2 | c.365A>T (p.Glu122Val) c.719A>T (p.Glu240Val) c.347-76483A>T (n.347-76483A>T) c.373A>T c.542A>T (p.Glu181Val) n.358A>T c.545A>T (p.Glu182Val) c.296A>T (p.Glu99Val) | |
| 2 | g.199349155T>C | CA2046019 | SATB2 | c.365A>G (p.Glu122Gly) c.719A>G (p.Glu240Gly) c.347-76483A>G (n.347-76483A>G) c.373A>G c.542A>G (p.Glu181Gly) n.358A>G c.545A>G (p.Glu182Gly) c.296A>G (p.Glu99Gly) | dbSNP ExAC gnomAD v2 |
| 2 | g.199349155T>G | CA350388286 | SATB2 | c.365A>C (p.Glu122Ala) c.719A>C (p.Glu240Ala) c.347-76483A>C (n.347-76483A>C) c.373A>C c.542A>C (p.Glu181Ala) n.358A>C c.545A>C (p.Glu182Ala) c.296A>C (p.Glu99Ala) | |
| 2 | g.199349155T= | CA1320151769 | SATB2 | c.365A= (p.Glu122=) c.719A= (p.Glu240=) c.347-76483A= (n.347-76483A=) c.373A= c.542A= (p.Glu181=) n.358A= c.545A= (p.Glu182=) c.296A= (p.Glu99=) | |
| 2 | g.199349156C>A | CA350388287 | SATB2 | c.364G>T (p.Glu122Ter) c.718G>T (p.Glu240Ter) c.347-76484G>T (n.347-76484G>T) c.372G>T c.541G>T (p.Glu181Ter) n.357G>T c.544G>T (p.Glu182Ter) c.295G>T (p.Glu99Ter) | |
| 2 | g.199349156C>G | CA350388288 | SATB2 | c.364G>C (p.Glu122Gln) c.718G>C (p.Glu240Gln) c.347-76484G>C (n.347-76484G>C) c.372G>C c.541G>C (p.Glu181Gln) n.357G>C c.544G>C (p.Glu182Gln) c.295G>C (p.Glu99Gln) | |
| 2 | g.199349156C>T | CA350388289 | SATB2 | c.364G>A (p.Glu122Lys) c.718G>A (p.Glu240Lys) c.347-76484G>A (n.347-76484G>A) c.372G>A c.541G>A (p.Glu181Lys) n.357G>A c.544G>A (p.Glu182Lys) c.295G>A (p.Glu99Lys) | |
| 2 | g.199349157T>A | CA430790744 | SATB2 | c.363A>T (p.Arg121=) c.717A>T (p.Arg239=) c.347-76485A>T (n.347-76485A>T) c.371A>T c.540A>T (p.Arg180=) n.356A>T c.543A>T (p.Arg181=) c.294A>T (p.Arg98=) | |
| 2 | g.199349157T>C | CA430790745 | SATB2 | c.363A>G (p.Arg121=) c.717A>G (p.Arg239=) c.347-76485A>G (n.347-76485A>G) c.371A>G c.540A>G (p.Arg180=) n.356A>G c.543A>G (p.Arg181=) c.294A>G (p.Arg98=) | |
| 2 | g.199349157T>G | CA430790747 | SATB2 | c.363A>C (p.Arg121=) c.717A>C (p.Arg239=) c.347-76485A>C (n.347-76485A>C) c.371A>C c.540A>C (p.Arg180=) n.356A>C c.543A>C (p.Arg181=) c.294A>C (p.Arg98=) | |
| 2 | g.199349158del | CA2586970967 | SATB2 | c.362del (p.Arg121GlnfsTer20) c.716del (p.Arg239GlnfsTer20) c.347-76486del (n.347-76486del) c.370del c.539del (p.Arg180GlnfsTer20) n.355del c.542del (p.Arg181GlnfsTer20) c.293del (p.Arg98GlnfsTer20) | |
| 2 | g.199349158C>A | CA350388290 | SATB2 | c.362G>T (p.Arg121Leu) c.716G>T (p.Arg239Leu) c.347-76486G>T (n.347-76486G>T) c.370G>T c.539G>T (p.Arg180Leu) n.355G>T c.542G>T (p.Arg181Leu) c.293G>T (p.Arg98Leu) | |
| 2 | g.199349158C= | CA1320151770 | SATB2 | c.362G= (p.Arg121=) c.716G= (p.Arg239=) c.347-76486G= (n.347-76486G=) c.370G= c.539G= (p.Arg180=) n.355G= c.542G= (p.Arg181=) c.293G= (p.Arg98=) | |
| 2 | g.199349158C>G | CA350388291 | SATB2 | c.362G>C (p.Arg121Pro) c.716G>C (p.Arg239Pro) c.347-76486G>C (n.347-76486G>C) c.370G>C c.539G>C (p.Arg180Pro) n.355G>C c.542G>C (p.Arg181Pro) c.293G>C (p.Arg98Pro) | |
| 2 | g.199349158C>T | CA64251738 | SATB2 | c.362G>A (p.Arg121Gln) c.716G>A (p.Arg239Gln) c.347-76486G>A (n.347-76486G>A) c.370G>A c.539G>A (p.Arg180Gln) n.355G>A c.542G>A (p.Arg181Gln) c.293G>A (p.Arg98Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.199349159del | CA2739292309 | SATB2 | c.361del (p.Arg121GlufsTer20) c.715del (p.Arg239GlufsTer20) c.347-76487del (n.347-76487del) c.369del c.538del (p.Arg180GlufsTer20) n.354del c.541del (p.Arg181GlufsTer20) c.292del (p.Arg98GlufsTer20) | |
| 2 | g.199349159G>A | CA115589 | SATB2 | c.361C>T (p.Arg121Ter) c.715C>T (p.Arg239Ter) c.347-76487C>T (n.347-76487C>T) c.369C>T c.538C>T (p.Arg180Ter) n.354C>T c.541C>T (p.Arg181Ter) c.292C>T (p.Arg98Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.199349159G>C | CA350388292 | SATB2 | c.361C>G (p.Arg121Gly) c.715C>G (p.Arg239Gly) c.347-76487C>G (n.347-76487C>G) c.369C>G c.538C>G (p.Arg180Gly) n.354C>G c.541C>G (p.Arg181Gly) c.292C>G (p.Arg98Gly) | |
| 2 | g.199349159G= | CA1320151771 | SATB2 | c.361C= (p.Arg121=) c.715C= (p.Arg239=) c.347-76487C= (n.347-76487C=) c.369C= c.538C= (p.Arg180=) n.354C= c.541C= (p.Arg181=) c.292C= (p.Arg98=) | |
| 2 | g.199349159G>T | CA430790759 | SATB2 | c.361C>A (p.Arg121=) c.715C>A (p.Arg239=) c.347-76487C>A (n.347-76487C>A) c.369C>A c.538C>A (p.Arg180=) n.354C>A c.541C>A (p.Arg181=) c.292C>A (p.Arg98=) | gnomAD v4 |