| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.75028716G>A | CA377292519 | DUSP29,KAT6B | c.3892G>A (p.Gly1298Arg) c.3343G>A (p.Gly1115Arg) c.3016G>A (p.Gly1006Arg) c.2827G>A (p.Gly943Arg) n.577-2122C>T c.*3622-2122C>T (n.*3622-2122C>T) c.3730G>A (p.Gly1244Arg) c.2854G>A (p.Gly952Arg) c.2203G>A (p.Gly735Arg) c.1807G>A (p.Gly603Arg) c.1549G>A (p.Gly517Arg) | gnomAD v4 |
| 10 | g.75028716G>C | CA377292520 | DUSP29,KAT6B | c.3892G>C (p.Gly1298Arg) c.3343G>C (p.Gly1115Arg) c.3016G>C (p.Gly1006Arg) c.2827G>C (p.Gly943Arg) n.577-2122C>G c.*3622-2122C>G (n.*3622-2122C>G) c.3730G>C (p.Gly1244Arg) c.2854G>C (p.Gly952Arg) c.2203G>C (p.Gly735Arg) c.1807G>C (p.Gly603Arg) c.1549G>C (p.Gly517Arg) | |
| 10 | g.75028716G= | CA1920306433 | DUSP29,KAT6B | c.3892G= (p.Gly1298=) c.3343G= (p.Gly1115=) c.3016G= (p.Gly1006=) c.2827G= (p.Gly943=) n.577-2122C= c.*3622-2122C= (n.*3622-2122C=) c.3730G= (p.Gly1244=) c.2854G= (p.Gly952=) c.2203G= (p.Gly735=) c.1807G= (p.Gly603=) c.1549G= (p.Gly517=) | |
| 10 | g.75028716G>T | CA129316 | DUSP29,KAT6B | c.3892G>T (p.Gly1298Ter) c.3343G>T (p.Gly1115Ter) c.3016G>T (p.Gly1006Ter) c.2827G>T (p.Gly943Ter) n.577-2122C>A c.*3622-2122C>A (n.*3622-2122C>A) c.3730G>T (p.Gly1244Ter) c.2854G>T (p.Gly952Ter) c.2203G>T (p.Gly735Ter) c.1807G>T (p.Gly603Ter) c.1549G>T (p.Gly517Ter) | ClinVar dbSNP |
| 10 | g.75028717G>A | CA377292521 | DUSP29,KAT6B | c.3893G>A (p.Gly1298Glu) c.3344G>A (p.Gly1115Glu) c.3017G>A (p.Gly1006Glu) c.2828G>A (p.Gly943Glu) n.577-2123C>T c.*3622-2123C>T (n.*3622-2123C>T) c.3731G>A (p.Gly1244Glu) c.2855G>A (p.Gly952Glu) c.2204G>A (p.Gly735Glu) c.1808G>A (p.Gly603Glu) c.1550G>A (p.Gly517Glu) | |
| 10 | g.75028717G>C | CA377292522 | DUSP29,KAT6B | c.3893G>C (p.Gly1298Ala) c.3344G>C (p.Gly1115Ala) c.3017G>C (p.Gly1006Ala) c.2828G>C (p.Gly943Ala) n.577-2123C>G c.*3622-2123C>G (n.*3622-2123C>G) c.3731G>C (p.Gly1244Ala) c.2855G>C (p.Gly952Ala) c.2204G>C (p.Gly735Ala) c.1808G>C (p.Gly603Ala) c.1550G>C (p.Gly517Ala) | |
| 10 | g.75028717G>T | CA377292523 | DUSP29,KAT6B | c.3893G>T (p.Gly1298Val) c.3344G>T (p.Gly1115Val) c.3017G>T (p.Gly1006Val) c.2828G>T (p.Gly943Val) n.577-2123C>A c.*3622-2123C>A (n.*3622-2123C>A) c.3731G>T (p.Gly1244Val) c.2855G>T (p.Gly952Val) c.2204G>T (p.Gly735Val) c.1808G>T (p.Gly603Val) c.1550G>T (p.Gly517Val) | |
| 10 | g.75028718A= | CA1920306434 | DUSP29,KAT6B | c.3894A= (p.Gly1298=) c.3345A= (p.Gly1115=) c.3018A= (p.Gly1006=) c.2829A= (p.Gly943=) n.577-2124T= c.*3622-2124T= (n.*3622-2124T=) c.3732A= (p.Gly1244=) c.2856A= (p.Gly952=) c.2205A= (p.Gly735=) c.1809A= (p.Gly603=) c.1551A= (p.Gly517=) | |
| 10 | g.75028718A>C | CA470299586 | DUSP29,KAT6B | c.3894A>C (p.Gly1298=) c.3345A>C (p.Gly1115=) c.3018A>C (p.Gly1006=) c.2829A>C (p.Gly943=) n.577-2124T>G c.*3622-2124T>G (n.*3622-2124T>G) c.3732A>C (p.Gly1244=) c.2856A>C (p.Gly952=) c.2205A>C (p.Gly735=) c.1809A>C (p.Gly603=) c.1551A>C (p.Gly517=) | |
| 10 | g.75028718A>G | CA5564919 | DUSP29,KAT6B | c.3894A>G (p.Gly1298=) c.3345A>G (p.Gly1115=) c.3018A>G (p.Gly1006=) c.2829A>G (p.Gly943=) n.577-2124T>C c.*3622-2124T>C (n.*3622-2124T>C) c.3732A>G (p.Gly1244=) c.2856A>G (p.Gly952=) c.2205A>G (p.Gly735=) c.1809A>G (p.Gly603=) c.1551A>G (p.Gly517=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.75028718A>T | CA470299587 | DUSP29,KAT6B | c.3894A>T (p.Gly1298=) c.3345A>T (p.Gly1115=) c.3018A>T (p.Gly1006=) c.2829A>T (p.Gly943=) n.577-2124T>A c.*3622-2124T>A (n.*3622-2124T>A) c.3732A>T (p.Gly1244=) c.2856A>T (p.Gly952=) c.2205A>T (p.Gly735=) c.1809A>T (p.Gly603=) c.1551A>T (p.Gly517=) | |
| 10 | g.75028722dup | CA658761662 | DUSP29,KAT6B | c.3898dup (p.Thr1300AsnfsTer9) c.3349dup (p.Thr1117AsnfsTer9) c.3022dup (p.Thr1008AsnfsTer9) c.2833dup (p.Thr945AsnfsTer9) n.577-2124dup c.*3622-2124dup (n.*3622-2124dup) c.3736dup (p.Thr1246AsnfsTer9) c.2860dup (p.Thr954AsnfsTer9) c.2209dup (p.Thr737AsnfsTer9) c.1813dup (p.Thr605AsnfsTer9) c.1555dup (p.Thr519AsnfsTer9) | |
| 10 | g.75028719A>C | CA377292524 | DUSP29,KAT6B | c.3895A>C (p.Lys1299Gln) c.3346A>C (p.Lys1116Gln) c.3019A>C (p.Lys1007Gln) c.2830A>C (p.Lys944Gln) n.577-2125T>G c.*3622-2125T>G (n.*3622-2125T>G) c.3733A>C (p.Lys1245Gln) c.2857A>C (p.Lys953Gln) c.2206A>C (p.Lys736Gln) c.1810A>C (p.Lys604Gln) c.1552A>C (p.Lys518Gln) | |
| 10 | g.75028719A>G | CA377292525 | DUSP29,KAT6B | c.3895A>G (p.Lys1299Glu) c.3346A>G (p.Lys1116Glu) c.3019A>G (p.Lys1007Glu) c.2830A>G (p.Lys944Glu) n.577-2125T>C c.*3622-2125T>C (n.*3622-2125T>C) c.3733A>G (p.Lys1245Glu) c.2857A>G (p.Lys953Glu) c.2206A>G (p.Lys736Glu) c.1810A>G (p.Lys604Glu) c.1552A>G (p.Lys518Glu) | |
| 10 | g.75028719A>T | CA377292526 | DUSP29,KAT6B | c.3895A>T (p.Lys1299Ter) c.3346A>T (p.Lys1116Ter) c.3019A>T (p.Lys1007Ter) c.2830A>T (p.Lys944Ter) n.577-2125T>A c.*3622-2125T>A (n.*3622-2125T>A) c.3733A>T (p.Lys1245Ter) c.2857A>T (p.Lys953Ter) c.2206A>T (p.Lys736Ter) c.1810A>T (p.Lys604Ter) c.1552A>T (p.Lys518Ter) | |
| 10 | g.75028720A= | CA1920306435 | DUSP29,KAT6B | c.3896A= (p.Lys1299=) c.3347A= (p.Lys1116=) c.3020A= (p.Lys1007=) c.2831A= (p.Lys944=) n.577-2126T= c.*3622-2126T= (n.*3622-2126T=) c.3734A= (p.Lys1245=) c.2858A= (p.Lys953=) c.2207A= (p.Lys736=) c.1811A= (p.Lys604=) c.1553A= (p.Lys518=) | |
| 10 | g.75028720A>C | CA377292527 | DUSP29,KAT6B | c.3896A>C (p.Lys1299Thr) c.3347A>C (p.Lys1116Thr) c.3020A>C (p.Lys1007Thr) c.2831A>C (p.Lys944Thr) n.577-2126T>G c.*3622-2126T>G (n.*3622-2126T>G) c.3734A>C (p.Lys1245Thr) c.2858A>C (p.Lys953Thr) c.2207A>C (p.Lys736Thr) c.1811A>C (p.Lys604Thr) c.1553A>C (p.Lys518Thr) | dbSNP |
| 10 | g.75028720A>G | CA377292529 | DUSP29,KAT6B | c.3896A>G (p.Lys1299Arg) c.3347A>G (p.Lys1116Arg) c.3020A>G (p.Lys1007Arg) c.2831A>G (p.Lys944Arg) n.577-2126T>C c.*3622-2126T>C (n.*3622-2126T>C) c.3734A>G (p.Lys1245Arg) c.2858A>G (p.Lys953Arg) c.2207A>G (p.Lys736Arg) c.1811A>G (p.Lys604Arg) c.1553A>G (p.Lys518Arg) | gnomAD v4 |
| 10 | g.75028720A>T | CA377292528 | DUSP29,KAT6B | c.3896A>T (p.Lys1299Ile) c.3347A>T (p.Lys1116Ile) c.3020A>T (p.Lys1007Ile) c.2831A>T (p.Lys944Ile) n.577-2126T>A c.*3622-2126T>A (n.*3622-2126T>A) c.3734A>T (p.Lys1245Ile) c.2858A>T (p.Lys953Ile) c.2207A>T (p.Lys736Ile) c.1811A>T (p.Lys604Ile) c.1553A>T (p.Lys518Ile) | |
| 10 | g.75028721A>C | CA377292530 | DUSP29,KAT6B | c.3897A>C (p.Lys1299Asn) c.3348A>C (p.Lys1116Asn) c.3021A>C (p.Lys1007Asn) c.2832A>C (p.Lys944Asn) n.577-2127T>G c.*3622-2127T>G (n.*3622-2127T>G) c.3735A>C (p.Lys1245Asn) c.2859A>C (p.Lys953Asn) c.2208A>C (p.Lys736Asn) c.1812A>C (p.Lys604Asn) c.1554A>C (p.Lys518Asn) | |
| 10 | g.75028721A>G | CA470299589 | DUSP29,KAT6B | c.3897A>G (p.Lys1299=) c.3348A>G (p.Lys1116=) c.3021A>G (p.Lys1007=) c.2832A>G (p.Lys944=) n.577-2127T>C c.*3622-2127T>C (n.*3622-2127T>C) c.3735A>G (p.Lys1245=) c.2859A>G (p.Lys953=) c.2208A>G (p.Lys736=) c.1812A>G (p.Lys604=) c.1554A>G (p.Lys518=) | |
| 10 | g.75028721A>T | CA377292531 | DUSP29,KAT6B | c.3897A>T (p.Lys1299Asn) c.3348A>T (p.Lys1116Asn) c.3021A>T (p.Lys1007Asn) c.2832A>T (p.Lys944Asn) n.577-2127T>A c.*3622-2127T>A (n.*3622-2127T>A) c.3735A>T (p.Lys1245Asn) c.2859A>T (p.Lys953Asn) c.2208A>T (p.Lys736Asn) c.1812A>T (p.Lys604Asn) c.1554A>T (p.Lys518Asn) | |
| 10 | g.75028722A= | CA1920306436 | DUSP29,KAT6B | c.3898A= (p.Thr1300=) c.3349A= (p.Thr1117=) c.3022A= (p.Thr1008=) c.2833A= (p.Thr945=) n.577-2128T= c.*3622-2128T= (n.*3622-2128T=) c.3736A= (p.Thr1246=) c.2860A= (p.Thr954=) c.2209A= (p.Thr737=) c.1813A= (p.Thr605=) c.1555A= (p.Thr519=) | |
| 10 | g.75028722A>C | CA377292532 | DUSP29,KAT6B | c.3898A>C (p.Thr1300Pro) c.3349A>C (p.Thr1117Pro) c.3022A>C (p.Thr1008Pro) c.2833A>C (p.Thr945Pro) n.577-2128T>G c.*3622-2128T>G (n.*3622-2128T>G) c.3736A>C (p.Thr1246Pro) c.2860A>C (p.Thr954Pro) c.2209A>C (p.Thr737Pro) c.1813A>C (p.Thr605Pro) c.1555A>C (p.Thr519Pro) | |
| 10 | g.75028722A>G | CA377292533 | DUSP29,KAT6B | c.3898A>G (p.Thr1300Ala) c.3349A>G (p.Thr1117Ala) c.3022A>G (p.Thr1008Ala) c.2833A>G (p.Thr945Ala) n.577-2128T>C c.*3622-2128T>C (n.*3622-2128T>C) c.3736A>G (p.Thr1246Ala) c.2860A>G (p.Thr954Ala) c.2209A>G (p.Thr737Ala) c.1813A>G (p.Thr605Ala) c.1555A>G (p.Thr519Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.75028722A>T | CA377292534 | DUSP29,KAT6B | c.3898A>T (p.Thr1300Ser) c.3349A>T (p.Thr1117Ser) c.3022A>T (p.Thr1008Ser) c.2833A>T (p.Thr945Ser) n.577-2128T>A c.*3622-2128T>A (n.*3622-2128T>A) c.3736A>T (p.Thr1246Ser) c.2860A>T (p.Thr954Ser) c.2209A>T (p.Thr737Ser) c.1813A>T (p.Thr605Ser) c.1555A>T (p.Thr519Ser) | |
| 10 | g.75028723C>A | CA377292535 | DUSP29,KAT6B | c.3899C>A (p.Thr1300Asn) c.3350C>A (p.Thr1117Asn) c.3023C>A (p.Thr1008Asn) c.2834C>A (p.Thr945Asn) n.577-2129G>T c.*3622-2129G>T (n.*3622-2129G>T) c.3737C>A (p.Thr1246Asn) c.2861C>A (p.Thr954Asn) c.2210C>A (p.Thr737Asn) c.1814C>A (p.Thr605Asn) c.1556C>A (p.Thr519Asn) | |
| 10 | g.75028723C= | CA1920306437 | DUSP29,KAT6B | c.3899C= (p.Thr1300=) c.3350C= (p.Thr1117=) c.3023C= (p.Thr1008=) c.2834C= (p.Thr945=) n.577-2129G= c.*3622-2129G= (n.*3622-2129G=) c.3737C= (p.Thr1246=) c.2861C= (p.Thr954=) c.2210C= (p.Thr737=) c.1814C= (p.Thr605=) c.1556C= (p.Thr519=) | |
| 10 | g.75028723C>G | CA377292536 | DUSP29,KAT6B | c.3899C>G (p.Thr1300Ser) c.3350C>G (p.Thr1117Ser) c.3023C>G (p.Thr1008Ser) c.2834C>G (p.Thr945Ser) n.577-2129G>C c.*3622-2129G>C (n.*3622-2129G>C) c.3737C>G (p.Thr1246Ser) c.2861C>G (p.Thr954Ser) c.2210C>G (p.Thr737Ser) c.1814C>G (p.Thr605Ser) c.1556C>G (p.Thr519Ser) | |
| 10 | g.75028723C>T | CA377292537 | DUSP29,KAT6B | c.3899C>T (p.Thr1300Ile) c.3350C>T (p.Thr1117Ile) c.3023C>T (p.Thr1008Ile) c.2834C>T (p.Thr945Ile) n.577-2129G>A c.*3622-2129G>A (n.*3622-2129G>A) c.3737C>T (p.Thr1246Ile) c.2861C>T (p.Thr954Ile) c.2210C>T (p.Thr737Ile) c.1814C>T (p.Thr605Ile) c.1556C>T (p.Thr519Ile) | dbSNP gnomAD v4 |
| 10 | g.75028724C>A | CA470299592 | DUSP29,KAT6B | c.3900C>A (p.Thr1300=) c.3351C>A (p.Thr1117=) c.3024C>A (p.Thr1008=) c.2835C>A (p.Thr945=) n.577-2130G>T c.*3622-2130G>T (n.*3622-2130G>T) c.3738C>A (p.Thr1246=) c.2862C>A (p.Thr954=) c.2211C>A (p.Thr737=) c.1815C>A (p.Thr605=) c.1557C>A (p.Thr519=) | |
| 10 | g.75028724C= | CA1920306438 | DUSP29,KAT6B | c.3900C= (p.Thr1300=) c.3351C= (p.Thr1117=) c.3024C= (p.Thr1008=) c.2835C= (p.Thr945=) n.577-2130G= c.*3622-2130G= (n.*3622-2130G=) c.3738C= (p.Thr1246=) c.2862C= (p.Thr954=) c.2211C= (p.Thr737=) c.1815C= (p.Thr605=) c.1557C= (p.Thr519=) | |
| 10 | g.75028724C>G | CA5564920 | DUSP29,KAT6B | c.3900C>G (p.Thr1300=) c.3351C>G (p.Thr1117=) c.3024C>G (p.Thr1008=) c.2835C>G (p.Thr945=) n.577-2130G>C c.*3622-2130G>C (n.*3622-2130G>C) c.3738C>G (p.Thr1246=) c.2862C>G (p.Thr954=) c.2211C>G (p.Thr737=) c.1815C>G (p.Thr605=) c.1557C>G (p.Thr519=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 10 | g.75028724C>T | CA209709212 | DUSP29,KAT6B | c.3900C>T (p.Thr1300=) c.3351C>T (p.Thr1117=) c.3024C>T (p.Thr1008=) c.2835C>T (p.Thr945=) n.577-2130G>A c.*3622-2130G>A (n.*3622-2130G>A) c.3738C>T (p.Thr1246=) c.2862C>T (p.Thr954=) c.2211C>T (p.Thr737=) c.1815C>T (p.Thr605=) c.1557C>T (p.Thr519=) | dbSNP gnomAD v4 |
| 10 | g.75028725A>C | CA377292539 | DUSP29,KAT6B | c.3901A>C (p.Ser1301Arg) c.3352A>C (p.Ser1118Arg) c.3025A>C (p.Ser1009Arg) c.2836A>C (p.Ser946Arg) n.577-2131T>G c.*3622-2131T>G (n.*3622-2131T>G) c.3739A>C (p.Ser1247Arg) c.2863A>C (p.Ser955Arg) c.2212A>C (p.Ser738Arg) c.1816A>C (p.Ser606Arg) c.1558A>C (p.Ser520Arg) | |
| 10 | g.75028725A>G | CA377292540 | DUSP29,KAT6B | c.3901A>G (p.Ser1301Gly) c.3352A>G (p.Ser1118Gly) c.3025A>G (p.Ser1009Gly) c.2836A>G (p.Ser946Gly) n.577-2131T>C c.*3622-2131T>C (n.*3622-2131T>C) c.3739A>G (p.Ser1247Gly) c.2863A>G (p.Ser955Gly) c.2212A>G (p.Ser738Gly) c.1816A>G (p.Ser606Gly) c.1558A>G (p.Ser520Gly) | |
| 10 | g.75028725A>T | CA377292538 | DUSP29,KAT6B | c.3901A>T (p.Ser1301Cys) c.3352A>T (p.Ser1118Cys) c.3025A>T (p.Ser1009Cys) c.2836A>T (p.Ser946Cys) n.577-2131T>A c.*3622-2131T>A (n.*3622-2131T>A) c.3739A>T (p.Ser1247Cys) c.2863A>T (p.Ser955Cys) c.2212A>T (p.Ser738Cys) c.1816A>T (p.Ser606Cys) c.1558A>T (p.Ser520Cys) | |
| 10 | g.75028726G>A | CA377292541 | DUSP29,KAT6B | c.3902G>A (p.Ser1301Asn) c.3353G>A (p.Ser1118Asn) c.3026G>A (p.Ser1009Asn) c.2837G>A (p.Ser946Asn) n.577-2132C>T c.*3622-2132C>T (n.*3622-2132C>T) c.3740G>A (p.Ser1247Asn) c.2864G>A (p.Ser955Asn) c.2213G>A (p.Ser738Asn) c.1817G>A (p.Ser606Asn) c.1559G>A (p.Ser520Asn) | |
| 10 | g.75028726G>C | CA377292542 | DUSP29,KAT6B | c.3902G>C (p.Ser1301Thr) c.3353G>C (p.Ser1118Thr) c.3026G>C (p.Ser1009Thr) c.2837G>C (p.Ser946Thr) n.577-2132C>G c.*3622-2132C>G (n.*3622-2132C>G) c.3740G>C (p.Ser1247Thr) c.2864G>C (p.Ser955Thr) c.2213G>C (p.Ser738Thr) c.1817G>C (p.Ser606Thr) c.1559G>C (p.Ser520Thr) | |
| 10 | g.75028726G>T | CA377292543 | DUSP29,KAT6B | c.3902G>T (p.Ser1301Ile) c.3353G>T (p.Ser1118Ile) c.3026G>T (p.Ser1009Ile) c.2837G>T (p.Ser946Ile) n.577-2132C>A c.*3622-2132C>A (n.*3622-2132C>A) c.3740G>T (p.Ser1247Ile) c.2864G>T (p.Ser955Ile) c.2213G>T (p.Ser738Ile) c.1817G>T (p.Ser606Ile) c.1559G>T (p.Ser520Ile) | |
| 10 | g.75028726_75028729del | CA2566138389 | DUSP29,KAT6B | c.3902_3905del (p.Ser1301ThrfsTer?) c.3353_3356del (p.Ser1118ThrfsTer?) c.3026_3029del (p.Ser1009ThrfsTer?) c.2837_2840del (p.Ser946ThrfsTer?) n.577-2135_577-2132del c.*3622-2135_*3622-2132del (n.*3622-2135_*3622-2132del) c.3740_3743del (p.Ser1247ThrfsTer?) c.2864_2867del (p.Ser955ThrfsTer?) c.2213_2216del (p.Ser738ThrfsTer?) c.1817_1820del (p.Ser606ThrfsTer?) c.1559_1562del (p.Ser520ThrfsTer?) | |
| 10 | g.75028726_75028727insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT | CA2609745697 | DUSP29,KAT6B | c.3902_3903insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser1301ArgfsTer5) c.3353_3354insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser1118ArgfsTer5) c.3026_3027insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser1009ArgfsTer5) c.2837_2838insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser946ArgfsTer5) n.577-2133_577-2132insACATAATCAAGGCTAATGTGTAATAATATTGTGTTATAAACCAAGT c.*3622-2133_*3622-2132insACATAATCAAGGCTAATGTGTAATAATATTGTGTTATAAACCAAGT (n.*3622-2133_*3622-2132insACATAATCAAGGCTAATGTGTAATAATATTGTGTTATAAACCAAGT) c.3740_3741insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser1247ArgfsTer5) c.2864_2865insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser955ArgfsTer5) c.2213_2214insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser738ArgfsTer5) c.1817_1818insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser606ArgfsTer5) c.1559_1560insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser520ArgfsTer5) | gnomAD v4 |
| 10 | g.75028727C>A | CA377292544 | DUSP29,KAT6B | c.3903C>A (p.Ser1301Arg) c.3354C>A (p.Ser1118Arg) c.3027C>A (p.Ser1009Arg) c.2838C>A (p.Ser946Arg) n.577-2133G>T c.*3622-2133G>T (n.*3622-2133G>T) c.3741C>A (p.Ser1247Arg) c.2865C>A (p.Ser955Arg) c.2214C>A (p.Ser738Arg) c.1818C>A (p.Ser606Arg) c.1560C>A (p.Ser520Arg) | |
| 10 | g.75028727C>G | CA377292545 | DUSP29,KAT6B | c.3903C>G (p.Ser1301Arg) c.3354C>G (p.Ser1118Arg) c.3027C>G (p.Ser1009Arg) c.2838C>G (p.Ser946Arg) n.577-2133G>C c.*3622-2133G>C (n.*3622-2133G>C) c.3741C>G (p.Ser1247Arg) c.2865C>G (p.Ser955Arg) c.2214C>G (p.Ser738Arg) c.1818C>G (p.Ser606Arg) c.1560C>G (p.Ser520Arg) | |
| 10 | g.75028727C>T | CA470299596 | DUSP29,KAT6B | c.3903C>T (p.Ser1301=) c.3354C>T (p.Ser1118=) c.3027C>T (p.Ser1009=) c.2838C>T (p.Ser946=) n.577-2133G>A c.*3622-2133G>A (n.*3622-2133G>A) c.3741C>T (p.Ser1247=) c.2865C>T (p.Ser955=) c.2214C>T (p.Ser738=) c.1818C>T (p.Ser606=) c.1560C>T (p.Ser520=) | gnomAD v4 |
| 10 | g.75028730del | CA2499220380 | DUSP29,KAT6B | c.3906del (p.Ser1303ValfsTer?) c.3357del (p.Ser1120ValfsTer?) c.3030del (p.Ser1011ValfsTer?) c.2841del (p.Ser948ValfsTer?) n.577-2133del c.*3622-2133del (n.*3622-2133del) c.3744del (p.Ser1249ValfsTer?) c.2868del (p.Ser957ValfsTer?) c.2217del (p.Ser740ValfsTer?) c.1821del (p.Ser608ValfsTer?) c.1563del (p.Ser522ValfsTer?) | ClinVar dbSNP |
| 10 | g.75028728C>A | CA377292548 | DUSP29,KAT6B | c.3904C>A (p.Pro1302Thr) c.3355C>A (p.Pro1119Thr) c.3028C>A (p.Pro1010Thr) c.2839C>A (p.Pro947Thr) n.577-2134G>T c.*3622-2134G>T (n.*3622-2134G>T) c.3742C>A (p.Pro1248Thr) c.2866C>A (p.Pro956Thr) c.2215C>A (p.Pro739Thr) c.1819C>A (p.Pro607Thr) c.1561C>A (p.Pro521Thr) | |
| 10 | g.75028728C>G | CA377292547 | DUSP29,KAT6B | c.3904C>G (p.Pro1302Ala) c.3355C>G (p.Pro1119Ala) c.3028C>G (p.Pro1010Ala) c.2839C>G (p.Pro947Ala) n.577-2134G>C c.*3622-2134G>C (n.*3622-2134G>C) c.3742C>G (p.Pro1248Ala) c.2866C>G (p.Pro956Ala) c.2215C>G (p.Pro739Ala) c.1819C>G (p.Pro607Ala) c.1561C>G (p.Pro521Ala) | |
| 10 | g.75028728C>T | CA377292546 | DUSP29,KAT6B | c.3904C>T (p.Pro1302Ser) c.3355C>T (p.Pro1119Ser) c.3028C>T (p.Pro1010Ser) c.2839C>T (p.Pro947Ser) n.577-2134G>A c.*3622-2134G>A (n.*3622-2134G>A) c.3742C>T (p.Pro1248Ser) c.2866C>T (p.Pro956Ser) c.2215C>T (p.Pro739Ser) c.1819C>T (p.Pro607Ser) c.1561C>T (p.Pro521Ser) | |
| 10 | g.75028729C>A | CA377292549 | DUSP29,KAT6B | c.3905C>A (p.Pro1302His) c.3356C>A (p.Pro1119His) c.3029C>A (p.Pro1010His) c.2840C>A (p.Pro947His) n.577-2135G>T c.*3622-2135G>T (n.*3622-2135G>T) c.3743C>A (p.Pro1248His) c.2867C>A (p.Pro956His) c.2216C>A (p.Pro739His) c.1820C>A (p.Pro607His) c.1562C>A (p.Pro521His) |