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 |
|---|---|---|---|---|---|
| 10 | g.75028526C>A | CA470299482 | DUSP29,KAT6B | c.3702C>A (p.Gly1234=) c.3153C>A (p.Gly1051=) c.2826C>A (p.Gly942=) c.2637C>A (p.Gly879=) n.577-1932G>T c.*3622-1932G>T (n.*3622-1932G>T) c.3540C>A (p.Gly1180=) c.2664C>A (p.Gly888=) c.2013C>A (p.Gly671=) c.1617C>A (p.Gly539=) c.1359C>A (p.Gly453=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.75028526C= | CA1920306365 | DUSP29,KAT6B | c.3702C= (p.Gly1234=) c.3153C= (p.Gly1051=) c.2826C= (p.Gly942=) c.2637C= (p.Gly879=) n.577-1932G= c.*3622-1932G= (n.*3622-1932G=) c.3540C= (p.Gly1180=) c.2664C= (p.Gly888=) c.2013C= (p.Gly671=) c.1617C= (p.Gly539=) c.1359C= (p.Gly453=) | |
| 10 | g.75028526C>G | CA470299480 | DUSP29,KAT6B | c.3702C>G (p.Gly1234=) c.3153C>G (p.Gly1051=) c.2826C>G (p.Gly942=) c.2637C>G (p.Gly879=) n.577-1932G>C c.*3622-1932G>C (n.*3622-1932G>C) c.3540C>G (p.Gly1180=) c.2664C>G (p.Gly888=) c.2013C>G (p.Gly671=) c.1617C>G (p.Gly539=) c.1359C>G (p.Gly453=) | |
| 10 | g.75028526C>T | CA470299481 | DUSP29,KAT6B | c.3702C>T (p.Gly1234=) c.3153C>T (p.Gly1051=) c.2826C>T (p.Gly942=) c.2637C>T (p.Gly879=) n.577-1932G>A c.*3622-1932G>A (n.*3622-1932G>A) c.3540C>T (p.Gly1180=) c.2664C>T (p.Gly888=) c.2013C>T (p.Gly671=) c.1617C>T (p.Gly539=) c.1359C>T (p.Gly453=) | ClinVar |
| 10 | g.75028527A>C | CA377291415 | DUSP29,KAT6B | c.3703A>C (p.Ser1235Arg) c.3154A>C (p.Ser1052Arg) c.2827A>C (p.Ser943Arg) c.2638A>C (p.Ser880Arg) n.577-1933T>G c.*3622-1933T>G (n.*3622-1933T>G) c.3541A>C (p.Ser1181Arg) c.2665A>C (p.Ser889Arg) c.2014A>C (p.Ser672Arg) c.1618A>C (p.Ser540Arg) c.1360A>C (p.Ser454Arg) | |
| 10 | g.75028527A>G | CA377291417 | DUSP29,KAT6B | c.3703A>G (p.Ser1235Gly) c.3154A>G (p.Ser1052Gly) c.2827A>G (p.Ser943Gly) c.2638A>G (p.Ser880Gly) n.577-1933T>C c.*3622-1933T>C (n.*3622-1933T>C) c.3541A>G (p.Ser1181Gly) c.2665A>G (p.Ser889Gly) c.2014A>G (p.Ser672Gly) c.1618A>G (p.Ser540Gly) c.1360A>G (p.Ser454Gly) | gnomAD v4 |
| 10 | g.75028527A>T | CA377291419 | DUSP29,KAT6B | c.3703A>T (p.Ser1235Cys) c.3154A>T (p.Ser1052Cys) c.2827A>T (p.Ser943Cys) c.2638A>T (p.Ser880Cys) n.577-1933T>A c.*3622-1933T>A (n.*3622-1933T>A) c.3541A>T (p.Ser1181Cys) c.2665A>T (p.Ser889Cys) c.2014A>T (p.Ser672Cys) c.1618A>T (p.Ser540Cys) c.1360A>T (p.Ser454Cys) | |
| 10 | g.75028528G>A | CA5564887 | DUSP29,KAT6B | c.3704G>A (p.Ser1235Asn) c.3155G>A (p.Ser1052Asn) c.2828G>A (p.Ser943Asn) c.2639G>A (p.Ser880Asn) n.577-1934C>T c.*3622-1934C>T (n.*3622-1934C>T) c.3542G>A (p.Ser1181Asn) c.2666G>A (p.Ser889Asn) c.2015G>A (p.Ser672Asn) c.1619G>A (p.Ser540Asn) c.1361G>A (p.Ser454Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.75028528G>C | CA377291422 | DUSP29,KAT6B | c.3704G>C (p.Ser1235Thr) c.3155G>C (p.Ser1052Thr) c.2828G>C (p.Ser943Thr) c.2639G>C (p.Ser880Thr) n.577-1934C>G c.*3622-1934C>G (n.*3622-1934C>G) c.3542G>C (p.Ser1181Thr) c.2666G>C (p.Ser889Thr) c.2015G>C (p.Ser672Thr) c.1619G>C (p.Ser540Thr) c.1361G>C (p.Ser454Thr) | |
| 10 | g.75028528G= | CA1920306366 | DUSP29,KAT6B | c.3704G= (p.Ser1235=) c.3155G= (p.Ser1052=) c.2828G= (p.Ser943=) c.2639G= (p.Ser880=) n.577-1934C= c.*3622-1934C= (n.*3622-1934C=) c.3542G= (p.Ser1181=) c.2666G= (p.Ser889=) c.2015G= (p.Ser672=) c.1619G= (p.Ser540=) c.1361G= (p.Ser454=) | |
| 10 | g.75028528G>T | CA377291424 | DUSP29,KAT6B | c.3704G>T (p.Ser1235Ile) c.3155G>T (p.Ser1052Ile) c.2828G>T (p.Ser943Ile) c.2639G>T (p.Ser880Ile) n.577-1934C>A c.*3622-1934C>A (n.*3622-1934C>A) c.3542G>T (p.Ser1181Ile) c.2666G>T (p.Ser889Ile) c.2015G>T (p.Ser672Ile) c.1619G>T (p.Ser540Ile) c.1361G>T (p.Ser454Ile) | |
| 10 | g.75028529T>A | CA377291425 | DUSP29,KAT6B | c.3705T>A (p.Ser1235Arg) c.3156T>A (p.Ser1052Arg) c.2829T>A (p.Ser943Arg) c.2640T>A (p.Ser880Arg) n.577-1935A>T c.*3622-1935A>T (n.*3622-1935A>T) c.3543T>A (p.Ser1181Arg) c.2667T>A (p.Ser889Arg) c.2016T>A (p.Ser672Arg) c.1620T>A (p.Ser540Arg) c.1362T>A (p.Ser454Arg) | |
| 10 | g.75028529T>C | CA470299483 | DUSP29,KAT6B | c.3705T>C (p.Ser1235=) c.3156T>C (p.Ser1052=) c.2829T>C (p.Ser943=) c.2640T>C (p.Ser880=) n.577-1935A>G c.*3622-1935A>G (n.*3622-1935A>G) c.3543T>C (p.Ser1181=) c.2667T>C (p.Ser889=) c.2016T>C (p.Ser672=) c.1620T>C (p.Ser540=) c.1362T>C (p.Ser454=) | |
| 10 | g.75028529T>G | CA377291426 | DUSP29,KAT6B | c.3705T>G (p.Ser1235Arg) c.3156T>G (p.Ser1052Arg) c.2829T>G (p.Ser943Arg) c.2640T>G (p.Ser880Arg) n.577-1935A>C c.*3622-1935A>C (n.*3622-1935A>C) c.3543T>G (p.Ser1181Arg) c.2667T>G (p.Ser889Arg) c.2016T>G (p.Ser672Arg) c.1620T>G (p.Ser540Arg) c.1362T>G (p.Ser454Arg) | |
| 10 | g.75028530A>C | CA377291429 | DUSP29,KAT6B | c.3706A>C (p.Lys1236Gln) c.3157A>C (p.Lys1053Gln) c.2830A>C (p.Lys944Gln) c.2641A>C (p.Lys881Gln) n.577-1936T>G c.*3622-1936T>G (n.*3622-1936T>G) c.3544A>C (p.Lys1182Gln) c.2668A>C (p.Lys890Gln) c.2017A>C (p.Lys673Gln) c.1621A>C (p.Lys541Gln) c.1363A>C (p.Lys455Gln) | |
| 10 | g.75028530A>G | CA377291431 | DUSP29,KAT6B | c.3706A>G (p.Lys1236Glu) c.3157A>G (p.Lys1053Glu) c.2830A>G (p.Lys944Glu) c.2641A>G (p.Lys881Glu) n.577-1936T>C c.*3622-1936T>C (n.*3622-1936T>C) c.3544A>G (p.Lys1182Glu) c.2668A>G (p.Lys890Glu) c.2017A>G (p.Lys673Glu) c.1621A>G (p.Lys541Glu) c.1363A>G (p.Lys455Glu) | gnomAD v4 |
| 10 | g.75028530A>T | CA377291432 | DUSP29,KAT6B | c.3706A>T (p.Lys1236Ter) c.3157A>T (p.Lys1053Ter) c.2830A>T (p.Lys944Ter) c.2641A>T (p.Lys881Ter) n.577-1936T>A c.*3622-1936T>A (n.*3622-1936T>A) c.3544A>T (p.Lys1182Ter) c.2668A>T (p.Lys890Ter) c.2017A>T (p.Lys673Ter) c.1621A>T (p.Lys541Ter) c.1363A>T (p.Lys455Ter) | |
| 10 | g.75028531A= | CA1920306367 | DUSP29,KAT6B | c.3707A= (p.Lys1236=) c.3158A= (p.Lys1053=) c.2831A= (p.Lys944=) c.2642A= (p.Lys881=) n.577-1937T= c.*3622-1937T= (n.*3622-1937T=) c.3545A= (p.Lys1182=) c.2669A= (p.Lys890=) c.2018A= (p.Lys673=) c.1622A= (p.Lys541=) c.1364A= (p.Lys455=) | |
| 10 | g.75028531A>C | CA377291436 | DUSP29,KAT6B | c.3707A>C (p.Lys1236Thr) c.3158A>C (p.Lys1053Thr) c.2831A>C (p.Lys944Thr) c.2642A>C (p.Lys881Thr) n.577-1937T>G c.*3622-1937T>G (n.*3622-1937T>G) c.3545A>C (p.Lys1182Thr) c.2669A>C (p.Lys890Thr) c.2018A>C (p.Lys673Thr) c.1622A>C (p.Lys541Thr) c.1364A>C (p.Lys455Thr) | |
| 10 | g.75028531A>G | CA5564888 | DUSP29,KAT6B | c.3707A>G (p.Lys1236Arg) c.3158A>G (p.Lys1053Arg) c.2831A>G (p.Lys944Arg) c.2642A>G (p.Lys881Arg) n.577-1937T>C c.*3622-1937T>C (n.*3622-1937T>C) c.3545A>G (p.Lys1182Arg) c.2669A>G (p.Lys890Arg) c.2018A>G (p.Lys673Arg) c.1622A>G (p.Lys541Arg) c.1364A>G (p.Lys455Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.75028531A>T | CA377291434 | DUSP29,KAT6B | c.3707A>T (p.Lys1236Ile) c.3158A>T (p.Lys1053Ile) c.2831A>T (p.Lys944Ile) c.2642A>T (p.Lys881Ile) n.577-1937T>A c.*3622-1937T>A (n.*3622-1937T>A) c.3545A>T (p.Lys1182Ile) c.2669A>T (p.Lys890Ile) c.2018A>T (p.Lys673Ile) c.1622A>T (p.Lys541Ile) c.1364A>T (p.Lys455Ile) | |
| 10 | g.75028532A>C | CA377291439 | DUSP29,KAT6B | c.3708A>C (p.Lys1236Asn) c.3159A>C (p.Lys1053Asn) c.2832A>C (p.Lys944Asn) c.2643A>C (p.Lys881Asn) n.577-1938T>G c.*3622-1938T>G (n.*3622-1938T>G) c.3546A>C (p.Lys1182Asn) c.2670A>C (p.Lys890Asn) c.2019A>C (p.Lys673Asn) c.1623A>C (p.Lys541Asn) c.1365A>C (p.Lys455Asn) | |
| 10 | g.75028532A>G | CA470299484 | DUSP29,KAT6B | c.3708A>G (p.Lys1236=) c.3159A>G (p.Lys1053=) c.2832A>G (p.Lys944=) c.2643A>G (p.Lys881=) n.577-1938T>C c.*3622-1938T>C (n.*3622-1938T>C) c.3546A>G (p.Lys1182=) c.2670A>G (p.Lys890=) c.2019A>G (p.Lys673=) c.1623A>G (p.Lys541=) c.1365A>G (p.Lys455=) | |
| 10 | g.75028532A>T | CA377291438 | DUSP29,KAT6B | c.3708A>T (p.Lys1236Asn) c.3159A>T (p.Lys1053Asn) c.2832A>T (p.Lys944Asn) c.2643A>T (p.Lys881Asn) n.577-1938T>A c.*3622-1938T>A (n.*3622-1938T>A) c.3546A>T (p.Lys1182Asn) c.2670A>T (p.Lys890Asn) c.2019A>T (p.Lys673Asn) c.1623A>T (p.Lys541Asn) c.1365A>T (p.Lys455Asn) | |
| 10 | g.75028533G>A | CA377291441 | DUSP29,KAT6B | c.3709G>A (p.Asp1237Asn) c.3160G>A (p.Asp1054Asn) c.2833G>A (p.Asp945Asn) c.2644G>A (p.Asp882Asn) n.577-1939C>T c.*3622-1939C>T (n.*3622-1939C>T) c.3547G>A (p.Asp1183Asn) c.2671G>A (p.Asp891Asn) c.2020G>A (p.Asp674Asn) c.1624G>A (p.Asp542Asn) c.1366G>A (p.Asp456Asn) | |
| 10 | g.75028533G>C | CA377291443 | DUSP29,KAT6B | c.3709G>C (p.Asp1237His) c.3160G>C (p.Asp1054His) c.2833G>C (p.Asp945His) c.2644G>C (p.Asp882His) n.577-1939C>G c.*3622-1939C>G (n.*3622-1939C>G) c.3547G>C (p.Asp1183His) c.2671G>C (p.Asp891His) c.2020G>C (p.Asp674His) c.1624G>C (p.Asp542His) c.1366G>C (p.Asp456His) | |
| 10 | g.75028533G>T | CA377291444 | DUSP29,KAT6B | c.3709G>T (p.Asp1237Tyr) c.3160G>T (p.Asp1054Tyr) c.2833G>T (p.Asp945Tyr) c.2644G>T (p.Asp882Tyr) n.577-1939C>A c.*3622-1939C>A (n.*3622-1939C>A) c.3547G>T (p.Asp1183Tyr) c.2671G>T (p.Asp891Tyr) c.2020G>T (p.Asp674Tyr) c.1624G>T (p.Asp542Tyr) c.1366G>T (p.Asp456Tyr) | |
| 10 | g.75028534A>C | CA377291448 | DUSP29,KAT6B | c.3710A>C (p.Asp1237Ala) c.3161A>C (p.Asp1054Ala) c.2834A>C (p.Asp945Ala) c.2645A>C (p.Asp882Ala) n.577-1940T>G c.*3622-1940T>G (n.*3622-1940T>G) c.3548A>C (p.Asp1183Ala) c.2672A>C (p.Asp891Ala) c.2021A>C (p.Asp674Ala) c.1625A>C (p.Asp542Ala) c.1367A>C (p.Asp456Ala) | |
| 10 | g.75028534A>G | CA377291449 | DUSP29,KAT6B | c.3710A>G (p.Asp1237Gly) c.3161A>G (p.Asp1054Gly) c.2834A>G (p.Asp945Gly) c.2645A>G (p.Asp882Gly) n.577-1940T>C c.*3622-1940T>C (n.*3622-1940T>C) c.3548A>G (p.Asp1183Gly) c.2672A>G (p.Asp891Gly) c.2021A>G (p.Asp674Gly) c.1625A>G (p.Asp542Gly) c.1367A>G (p.Asp456Gly) | |
| 10 | g.75028534A>T | CA377291451 | DUSP29,KAT6B | c.3710A>T (p.Asp1237Val) c.3161A>T (p.Asp1054Val) c.2834A>T (p.Asp945Val) c.2645A>T (p.Asp882Val) n.577-1940T>A c.*3622-1940T>A (n.*3622-1940T>A) c.3548A>T (p.Asp1183Val) c.2672A>T (p.Asp891Val) c.2021A>T (p.Asp674Val) c.1625A>T (p.Asp542Val) c.1367A>T (p.Asp456Val) | |
| 10 | g.75028535C>A | CA377291454 | DUSP29,KAT6B | c.3711C>A (p.Asp1237Glu) c.3162C>A (p.Asp1054Glu) c.2835C>A (p.Asp945Glu) c.2646C>A (p.Asp882Glu) n.577-1941G>T c.*3622-1941G>T (n.*3622-1941G>T) c.3549C>A (p.Asp1183Glu) c.2673C>A (p.Asp891Glu) c.2022C>A (p.Asp674Glu) c.1626C>A (p.Asp542Glu) c.1368C>A (p.Asp456Glu) | |
| 10 | g.75028535C>G | CA377291455 | DUSP29,KAT6B | c.3711C>G (p.Asp1237Glu) c.3162C>G (p.Asp1054Glu) c.2835C>G (p.Asp945Glu) c.2646C>G (p.Asp882Glu) n.577-1941G>C c.*3622-1941G>C (n.*3622-1941G>C) c.3549C>G (p.Asp1183Glu) c.2673C>G (p.Asp891Glu) c.2022C>G (p.Asp674Glu) c.1626C>G (p.Asp542Glu) c.1368C>G (p.Asp456Glu) | |
| 10 | g.75028535C>T | CA470299485 | DUSP29,KAT6B | c.3711C>T (p.Asp1237=) c.3162C>T (p.Asp1054=) c.2835C>T (p.Asp945=) c.2646C>T (p.Asp882=) n.577-1941G>A c.*3622-1941G>A (n.*3622-1941G>A) c.3549C>T (p.Asp1183=) c.2673C>T (p.Asp891=) c.2022C>T (p.Asp674=) c.1626C>T (p.Asp542=) c.1368C>T (p.Asp456=) | dbSNP |
| 10 | g.75028536A>C | CA377291457 | DUSP29,KAT6B | c.3712A>C (p.Asn1238His) c.3163A>C (p.Asn1055His) c.2836A>C (p.Asn946His) c.2647A>C (p.Asn883His) n.577-1942T>G c.*3622-1942T>G (n.*3622-1942T>G) c.3550A>C (p.Asn1184His) c.2674A>C (p.Asn892His) c.2023A>C (p.Asn675His) c.1627A>C (p.Asn543His) c.1369A>C (p.Asn457His) | |
| 10 | g.75028536A>G | CA377291459 | DUSP29,KAT6B | c.3712A>G (p.Asn1238Asp) c.3163A>G (p.Asn1055Asp) c.2836A>G (p.Asn946Asp) c.2647A>G (p.Asn883Asp) n.577-1942T>C c.*3622-1942T>C (n.*3622-1942T>C) c.3550A>G (p.Asn1184Asp) c.2674A>G (p.Asn892Asp) c.2023A>G (p.Asn675Asp) c.1627A>G (p.Asn543Asp) c.1369A>G (p.Asn457Asp) | ClinVar |
| 10 | g.75028536A>T | CA377291461 | DUSP29,KAT6B | c.3712A>T (p.Asn1238Tyr) c.3163A>T (p.Asn1055Tyr) c.2836A>T (p.Asn946Tyr) c.2647A>T (p.Asn883Tyr) n.577-1942T>A c.*3622-1942T>A (n.*3622-1942T>A) c.3550A>T (p.Asn1184Tyr) c.2674A>T (p.Asn892Tyr) c.2023A>T (p.Asn675Tyr) c.1627A>T (p.Asn543Tyr) c.1369A>T (p.Asn457Tyr) | |
| 10 | g.75028537A>C | CA377291467 | DUSP29,KAT6B | c.3713A>C (p.Asn1238Thr) c.3164A>C (p.Asn1055Thr) c.2837A>C (p.Asn946Thr) c.2648A>C (p.Asn883Thr) n.577-1943T>G c.*3622-1943T>G (n.*3622-1943T>G) c.3551A>C (p.Asn1184Thr) c.2675A>C (p.Asn892Thr) c.2024A>C (p.Asn675Thr) c.1628A>C (p.Asn543Thr) c.1370A>C (p.Asn457Thr) | |
| 10 | g.75028537A>G | CA377291465 | DUSP29,KAT6B | c.3713A>G (p.Asn1238Ser) c.3164A>G (p.Asn1055Ser) c.2837A>G (p.Asn946Ser) c.2648A>G (p.Asn883Ser) n.577-1943T>C c.*3622-1943T>C (n.*3622-1943T>C) c.3551A>G (p.Asn1184Ser) c.2675A>G (p.Asn892Ser) c.2024A>G (p.Asn675Ser) c.1628A>G (p.Asn543Ser) c.1370A>G (p.Asn457Ser) | gnomAD v4 |
| 10 | g.75028537A>T | CA377291463 | DUSP29,KAT6B | c.3713A>T (p.Asn1238Ile) c.3164A>T (p.Asn1055Ile) c.2837A>T (p.Asn946Ile) c.2648A>T (p.Asn883Ile) n.577-1943T>A c.*3622-1943T>A (n.*3622-1943T>A) c.3551A>T (p.Asn1184Ile) c.2675A>T (p.Asn892Ile) c.2024A>T (p.Asn675Ile) c.1628A>T (p.Asn543Ile) c.1370A>T (p.Asn457Ile) | |
| 10 | g.75028538T>A | CA377291469 | DUSP29,KAT6B | c.3714T>A (p.Asn1238Lys) c.3165T>A (p.Asn1055Lys) c.2838T>A (p.Asn946Lys) c.2649T>A (p.Asn883Lys) n.577-1944A>T c.*3622-1944A>T (n.*3622-1944A>T) c.3552T>A (p.Asn1184Lys) c.2676T>A (p.Asn892Lys) c.2025T>A (p.Asn675Lys) c.1629T>A (p.Asn543Lys) c.1371T>A (p.Asn457Lys) | |
| 10 | g.75028538T>C | CA470299486 | DUSP29,KAT6B | c.3714T>C (p.Asn1238=) c.3165T>C (p.Asn1055=) c.2838T>C (p.Asn946=) c.2649T>C (p.Asn883=) n.577-1944A>G c.*3622-1944A>G (n.*3622-1944A>G) c.3552T>C (p.Asn1184=) c.2676T>C (p.Asn892=) c.2025T>C (p.Asn675=) c.1629T>C (p.Asn543=) c.1371T>C (p.Asn457=) | dbSNP |
| 10 | g.75028538T>G | CA377291470 | DUSP29,KAT6B | c.3714T>G (p.Asn1238Lys) c.3165T>G (p.Asn1055Lys) c.2838T>G (p.Asn946Lys) c.2649T>G (p.Asn883Lys) n.577-1944A>C c.*3622-1944A>C (n.*3622-1944A>C) c.3552T>G (p.Asn1184Lys) c.2676T>G (p.Asn892Lys) c.2025T>G (p.Asn675Lys) c.1629T>G (p.Asn543Lys) c.1371T>G (p.Asn457Lys) | |
| 10 | g.75028538T= | CA1920306368 | DUSP29,KAT6B | c.3714T= (p.Asn1238=) c.3165T= (p.Asn1055=) c.2838T= (p.Asn946=) c.2649T= (p.Asn883=) n.577-1944A= c.*3622-1944A= (n.*3622-1944A=) c.3552T= (p.Asn1184=) c.2676T= (p.Asn892=) c.2025T= (p.Asn675=) c.1629T= (p.Asn543=) c.1371T= (p.Asn457=) | |
| 10 | g.75028539C>A | CA377291471 | DUSP29,KAT6B | c.3715C>A (p.Pro1239Thr) c.3166C>A (p.Pro1056Thr) c.2839C>A (p.Pro947Thr) c.2650C>A (p.Pro884Thr) n.577-1945G>T c.*3622-1945G>T (n.*3622-1945G>T) c.3553C>A (p.Pro1185Thr) c.2677C>A (p.Pro893Thr) c.2026C>A (p.Pro676Thr) c.1630C>A (p.Pro544Thr) c.1372C>A (p.Pro458Thr) | gnomAD v4 |
| 10 | g.75028539C>G | CA377291473 | DUSP29,KAT6B | c.3715C>G (p.Pro1239Ala) c.3166C>G (p.Pro1056Ala) c.2839C>G (p.Pro947Ala) c.2650C>G (p.Pro884Ala) n.577-1945G>C c.*3622-1945G>C (n.*3622-1945G>C) c.3553C>G (p.Pro1185Ala) c.2677C>G (p.Pro893Ala) c.2026C>G (p.Pro676Ala) c.1630C>G (p.Pro544Ala) c.1372C>G (p.Pro458Ala) | |
| 10 | g.75028539C>T | CA377291475 | DUSP29,KAT6B | c.3715C>T (p.Pro1239Ser) c.3166C>T (p.Pro1056Ser) c.2839C>T (p.Pro947Ser) c.2650C>T (p.Pro884Ser) n.577-1945G>A c.*3622-1945G>A (n.*3622-1945G>A) c.3553C>T (p.Pro1185Ser) c.2677C>T (p.Pro893Ser) c.2026C>T (p.Pro676Ser) c.1630C>T (p.Pro544Ser) c.1372C>T (p.Pro458Ser) | gnomAD v4 |
| 10 | g.75028540C>A | CA377291477 | DUSP29,KAT6B | c.3716C>A (p.Pro1239His) c.3167C>A (p.Pro1056His) c.2840C>A (p.Pro947His) c.2651C>A (p.Pro884His) n.577-1946G>T c.*3622-1946G>T (n.*3622-1946G>T) c.3554C>A (p.Pro1185His) c.2678C>A (p.Pro893His) c.2027C>A (p.Pro676His) c.1631C>A (p.Pro544His) c.1373C>A (p.Pro458His) | |
| 10 | g.75028540C>G | CA377291479 | DUSP29,KAT6B | c.3716C>G (p.Pro1239Arg) c.3167C>G (p.Pro1056Arg) c.2840C>G (p.Pro947Arg) c.2651C>G (p.Pro884Arg) n.577-1946G>C c.*3622-1946G>C (n.*3622-1946G>C) c.3554C>G (p.Pro1185Arg) c.2678C>G (p.Pro893Arg) c.2027C>G (p.Pro676Arg) c.1631C>G (p.Pro544Arg) c.1373C>G (p.Pro458Arg) | |
| 10 | g.75028540C>T | CA377291480 | DUSP29,KAT6B | c.3716C>T (p.Pro1239Leu) c.3167C>T (p.Pro1056Leu) c.2840C>T (p.Pro947Leu) c.2651C>T (p.Pro884Leu) n.577-1946G>A c.*3622-1946G>A (n.*3622-1946G>A) c.3554C>T (p.Pro1185Leu) c.2678C>T (p.Pro893Leu) c.2027C>T (p.Pro676Leu) c.1631C>T (p.Pro544Leu) c.1373C>T (p.Pro458Leu) | |
| 10 | g.75028541C>A | CA470299487 | DUSP29,KAT6B | c.3717C>A (p.Pro1239=) c.3168C>A (p.Pro1056=) c.2841C>A (p.Pro947=) c.2652C>A (p.Pro884=) n.577-1947G>T c.*3622-1947G>T (n.*3622-1947G>T) c.3555C>A (p.Pro1185=) c.2679C>A (p.Pro893=) c.2028C>A (p.Pro676=) c.1632C>A (p.Pro544=) c.1374C>A (p.Pro458=) |