Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.75029084C>ACA377296559DUSP29,KAT6Bc.4260C>A (p.His1420Gln)
c.3711C>A (p.His1237Gln)
c.3384C>A (p.His1128Gln)
n.577-2490G>T
c.*3622-2490G>T (n.*3622-2490G>T)
c.4098C>A (p.His1366Gln)
c.3222C>A (p.His1074Gln)
c.2571C>A (p.His857Gln)
c.2175C>A (p.His725Gln)
c.1917C>A (p.His639Gln)
c.3195C>A (p.His1065Gln)
10g.75029084C>GCA377296560DUSP29,KAT6Bc.4260C>G (p.His1420Gln)
c.3711C>G (p.His1237Gln)
c.3384C>G (p.His1128Gln)
n.577-2490G>C
c.*3622-2490G>C (n.*3622-2490G>C)
c.4098C>G (p.His1366Gln)
c.3222C>G (p.His1074Gln)
c.2571C>G (p.His857Gln)
c.2175C>G (p.His725Gln)
c.1917C>G (p.His639Gln)
c.3195C>G (p.His1065Gln)
gnomAD v4
10g.75029084C>TCA470299915DUSP29,KAT6Bc.4260C>T (p.His1420=)
c.3711C>T (p.His1237=)
c.3384C>T (p.His1128=)
n.577-2490G>A
c.*3622-2490G>A (n.*3622-2490G>A)
c.4098C>T (p.His1366=)
c.3222C>T (p.His1074=)
c.2571C>T (p.His857=)
c.2175C>T (p.His725=)
c.1917C>T (p.His639=)
c.3195C>T (p.His1065=)
10g.75029085A>CCA377296562DUSP29,KAT6Bc.4261A>C (p.Asn1421His)
c.3712A>C (p.Asn1238His)
c.3385A>C (p.Asn1129His)
n.577-2491T>G
c.*3622-2491T>G (n.*3622-2491T>G)
c.4099A>C (p.Asn1367His)
c.3223A>C (p.Asn1075His)
c.2572A>C (p.Asn858His)
c.2176A>C (p.Asn726His)
c.1918A>C (p.Asn640His)
c.3196A>C (p.Asn1066His)
10g.75029085A>GCA377296563DUSP29,KAT6Bc.4261A>G (p.Asn1421Asp)
c.3712A>G (p.Asn1238Asp)
c.3385A>G (p.Asn1129Asp)
n.577-2491T>C
c.*3622-2491T>C (n.*3622-2491T>C)
c.4099A>G (p.Asn1367Asp)
c.3223A>G (p.Asn1075Asp)
c.2572A>G (p.Asn858Asp)
c.2176A>G (p.Asn726Asp)
c.1918A>G (p.Asn640Asp)
c.3196A>G (p.Asn1066Asp)
10g.75029085A>TCA377296561DUSP29,KAT6Bc.4261A>T (p.Asn1421Tyr)
c.3712A>T (p.Asn1238Tyr)
c.3385A>T (p.Asn1129Tyr)
n.577-2491T>A
c.*3622-2491T>A (n.*3622-2491T>A)
c.4099A>T (p.Asn1367Tyr)
c.3223A>T (p.Asn1075Tyr)
c.2572A>T (p.Asn858Tyr)
c.2176A>T (p.Asn726Tyr)
c.1918A>T (p.Asn640Tyr)
c.3196A>T (p.Asn1066Tyr)
10g.75029086A>CCA377296564DUSP29,KAT6Bc.4262A>C (p.Asn1421Thr)
c.3713A>C (p.Asn1238Thr)
c.3386A>C (p.Asn1129Thr)
n.577-2492T>G
c.*3622-2492T>G (n.*3622-2492T>G)
c.4100A>C (p.Asn1367Thr)
c.3224A>C (p.Asn1075Thr)
c.2573A>C (p.Asn858Thr)
c.2177A>C (p.Asn726Thr)
c.1919A>C (p.Asn640Thr)
c.3197A>C (p.Asn1066Thr)
10g.75029086A>GCA377296566DUSP29,KAT6Bc.4262A>G (p.Asn1421Ser)
c.3713A>G (p.Asn1238Ser)
c.3386A>G (p.Asn1129Ser)
n.577-2492T>C
c.*3622-2492T>C (n.*3622-2492T>C)
c.4100A>G (p.Asn1367Ser)
c.3224A>G (p.Asn1075Ser)
c.2573A>G (p.Asn858Ser)
c.2177A>G (p.Asn726Ser)
c.1919A>G (p.Asn640Ser)
c.3197A>G (p.Asn1066Ser)
10g.75029086A>TCA377296565DUSP29,KAT6Bc.4262A>T (p.Asn1421Ile)
c.3713A>T (p.Asn1238Ile)
c.3386A>T (p.Asn1129Ile)
n.577-2492T>A
c.*3622-2492T>A (n.*3622-2492T>A)
c.4100A>T (p.Asn1367Ile)
c.3224A>T (p.Asn1075Ile)
c.2573A>T (p.Asn858Ile)
c.2177A>T (p.Asn726Ile)
c.1919A>T (p.Asn640Ile)
c.3197A>T (p.Asn1066Ile)
10g.75029087C>ACA377296567DUSP29,KAT6Bc.4263C>A (p.Asn1421Lys)
c.3714C>A (p.Asn1238Lys)
c.3387C>A (p.Asn1129Lys)
n.577-2493G>T
c.*3622-2493G>T (n.*3622-2493G>T)
c.4101C>A (p.Asn1367Lys)
c.3225C>A (p.Asn1075Lys)
c.2574C>A (p.Asn858Lys)
c.2178C>A (p.Asn726Lys)
c.1920C>A (p.Asn640Lys)
c.3198C>A (p.Asn1066Lys)
10g.75029087C=CA1920306599DUSP29,KAT6Bc.4263C= (p.Asn1421=)
c.3714C= (p.Asn1238=)
c.3387C= (p.Asn1129=)
n.577-2493G=
c.*3622-2493G= (n.*3622-2493G=)
c.4101C= (p.Asn1367=)
c.3225C= (p.Asn1075=)
c.2574C= (p.Asn858=)
c.2178C= (p.Asn726=)
c.1920C= (p.Asn640=)
c.3198C= (p.Asn1066=)
10g.75029087C>GCA377296568DUSP29,KAT6Bc.4263C>G (p.Asn1421Lys)
c.3714C>G (p.Asn1238Lys)
c.3387C>G (p.Asn1129Lys)
n.577-2493G>C
c.*3622-2493G>C (n.*3622-2493G>C)
c.4101C>G (p.Asn1367Lys)
c.3225C>G (p.Asn1075Lys)
c.2574C>G (p.Asn858Lys)
c.2178C>G (p.Asn726Lys)
c.1920C>G (p.Asn640Lys)
c.3198C>G (p.Asn1066Lys)
dbSNP gnomAD v3 gnomAD v4
10g.75029087C>TCA5565006DUSP29,KAT6Bc.4263C>T (p.Asn1421=)
c.3714C>T (p.Asn1238=)
c.3387C>T (p.Asn1129=)
n.577-2493G>A
c.*3622-2493G>A (n.*3622-2493G>A)
c.4101C>T (p.Asn1367=)
c.3225C>T (p.Asn1075=)
c.2574C>T (p.Asn858=)
c.2178C>T (p.Asn726=)
c.1920C>T (p.Asn640=)
c.3198C>T (p.Asn1066=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029088G>ACA377296569DUSP29,KAT6Bc.4264G>A (p.Glu1422Lys)
c.3715G>A (p.Glu1239Lys)
c.3388G>A (p.Glu1130Lys)
n.577-2494C>T
c.*3622-2494C>T (n.*3622-2494C>T)
c.4102G>A (p.Glu1368Lys)
c.3226G>A (p.Glu1076Lys)
c.2575G>A (p.Glu859Lys)
c.2179G>A (p.Glu727Lys)
c.1921G>A (p.Glu641Lys)
c.3199G>A (p.Glu1067Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.75029088G>CCA377296570DUSP29,KAT6Bc.4264G>C (p.Glu1422Gln)
c.3715G>C (p.Glu1239Gln)
c.3388G>C (p.Glu1130Gln)
n.577-2494C>G
c.*3622-2494C>G (n.*3622-2494C>G)
c.4102G>C (p.Glu1368Gln)
c.3226G>C (p.Glu1076Gln)
c.2575G>C (p.Glu859Gln)
c.2179G>C (p.Glu727Gln)
c.1921G>C (p.Glu641Gln)
c.3199G>C (p.Glu1067Gln)
10g.75029088G=CA1920306600DUSP29,KAT6Bc.4264G= (p.Glu1422=)
c.3715G= (p.Glu1239=)
c.3388G= (p.Glu1130=)
n.577-2494C=
c.*3622-2494C= (n.*3622-2494C=)
c.4102G= (p.Glu1368=)
c.3226G= (p.Glu1076=)
c.2575G= (p.Glu859=)
c.2179G= (p.Glu727=)
c.1921G= (p.Glu641=)
c.3199G= (p.Glu1067=)
10g.75029088G>TCA377296571DUSP29,KAT6Bc.4264G>T (p.Glu1422Ter)
c.3715G>T (p.Glu1239Ter)
c.3388G>T (p.Glu1130Ter)
n.577-2494C>A
c.*3622-2494C>A (n.*3622-2494C>A)
c.4102G>T (p.Glu1368Ter)
c.3226G>T (p.Glu1076Ter)
c.2575G>T (p.Glu859Ter)
c.2179G>T (p.Glu727Ter)
c.1921G>T (p.Glu641Ter)
c.3199G>T (p.Glu1067Ter)
10g.75029089A=CA1920306601DUSP29,KAT6Bc.4265A= (p.Glu1422=)
c.3716A= (p.Glu1239=)
c.3389A= (p.Glu1130=)
n.577-2495T=
c.*3622-2495T= (n.*3622-2495T=)
c.4103A= (p.Glu1368=)
c.3227A= (p.Glu1076=)
c.2576A= (p.Glu859=)
c.2180A= (p.Glu727=)
c.1922A= (p.Glu641=)
c.3200A= (p.Glu1067=)
10g.75029089A>CCA377296572DUSP29,KAT6Bc.4265A>C (p.Glu1422Ala)
c.3716A>C (p.Glu1239Ala)
c.3389A>C (p.Glu1130Ala)
n.577-2495T>G
c.*3622-2495T>G (n.*3622-2495T>G)
c.4103A>C (p.Glu1368Ala)
c.3227A>C (p.Glu1076Ala)
c.2576A>C (p.Glu859Ala)
c.2180A>C (p.Glu727Ala)
c.1922A>C (p.Glu641Ala)
c.3200A>C (p.Glu1067Ala)
10g.75029089A>GCA5565007DUSP29,KAT6Bc.4265A>G (p.Glu1422Gly)
c.3716A>G (p.Glu1239Gly)
c.3389A>G (p.Glu1130Gly)
n.577-2495T>C
c.*3622-2495T>C (n.*3622-2495T>C)
c.4103A>G (p.Glu1368Gly)
c.3227A>G (p.Glu1076Gly)
c.2576A>G (p.Glu859Gly)
c.2180A>G (p.Glu727Gly)
c.1922A>G (p.Glu641Gly)
c.3200A>G (p.Glu1067Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.75029089A>TCA377296573DUSP29,KAT6Bc.4265A>T (p.Glu1422Val)
c.3716A>T (p.Glu1239Val)
c.3389A>T (p.Glu1130Val)
n.577-2495T>A
c.*3622-2495T>A (n.*3622-2495T>A)
c.4103A>T (p.Glu1368Val)
c.3227A>T (p.Glu1076Val)
c.2576A>T (p.Glu859Val)
c.2180A>T (p.Glu727Val)
c.1922A>T (p.Glu641Val)
c.3200A>T (p.Glu1067Val)
10g.75029090G>ACA470299925DUSP29,KAT6Bc.4266G>A (p.Glu1422=)
c.3717G>A (p.Glu1239=)
c.3390G>A (p.Glu1130=)
n.577-2496C>T
c.*3622-2496C>T (n.*3622-2496C>T)
c.4104G>A (p.Glu1368=)
c.3228G>A (p.Glu1076=)
c.2577G>A (p.Glu859=)
c.2181G>A (p.Glu727=)
c.1923G>A (p.Glu641=)
c.3201G>A (p.Glu1067=)
10g.75029090G>CCA377296574DUSP29,KAT6Bc.4266G>C (p.Glu1422Asp)
c.3717G>C (p.Glu1239Asp)
c.3390G>C (p.Glu1130Asp)
n.577-2496C>G
c.*3622-2496C>G (n.*3622-2496C>G)
c.4104G>C (p.Glu1368Asp)
c.3228G>C (p.Glu1076Asp)
c.2577G>C (p.Glu859Asp)
c.2181G>C (p.Glu727Asp)
c.1923G>C (p.Glu641Asp)
c.3201G>C (p.Glu1067Asp)
10g.75029090G>TCA377296575DUSP29,KAT6Bc.4266G>T (p.Glu1422Asp)
c.3717G>T (p.Glu1239Asp)
c.3390G>T (p.Glu1130Asp)
n.577-2496C>A
c.*3622-2496C>A (n.*3622-2496C>A)
c.4104G>T (p.Glu1368Asp)
c.3228G>T (p.Glu1076Asp)
c.2577G>T (p.Glu859Asp)
c.2181G>T (p.Glu727Asp)
c.1923G>T (p.Glu641Asp)
c.3201G>T (p.Glu1067Asp)
10g.75029091G>ACA377296576DUSP29,KAT6Bc.4267G>A (p.Asp1423Asn)
c.3718G>A (p.Asp1240Asn)
c.3391G>A (p.Asp1131Asn)
n.577-2497C>T
c.*3622-2497C>T (n.*3622-2497C>T)
c.4105G>A (p.Asp1369Asn)
c.3229G>A (p.Asp1077Asn)
c.2578G>A (p.Asp860Asn)
c.2182G>A (p.Asp728Asn)
c.1924G>A (p.Asp642Asn)
c.3202G>A (p.Asp1068Asn)
dbSNP
10g.75029091G>CCA377296577DUSP29,KAT6Bc.4267G>C (p.Asp1423His)
c.3718G>C (p.Asp1240His)
c.3391G>C (p.Asp1131His)
n.577-2497C>G
c.*3622-2497C>G (n.*3622-2497C>G)
c.4105G>C (p.Asp1369His)
c.3229G>C (p.Asp1077His)
c.2578G>C (p.Asp860His)
c.2182G>C (p.Asp728His)
c.1924G>C (p.Asp642His)
c.3202G>C (p.Asp1068His)
10g.75029091G=CA1920306602DUSP29,KAT6Bc.4267G= (p.Asp1423=)
c.3718G= (p.Asp1240=)
c.3391G= (p.Asp1131=)
n.577-2497C=
c.*3622-2497C= (n.*3622-2497C=)
c.4105G= (p.Asp1369=)
c.3229G= (p.Asp1077=)
c.2578G= (p.Asp860=)
c.2182G= (p.Asp728=)
c.1924G= (p.Asp642=)
c.3202G= (p.Asp1068=)
10g.75029091G>TCA377296578DUSP29,KAT6Bc.4267G>T (p.Asp1423Tyr)
c.3718G>T (p.Asp1240Tyr)
c.3391G>T (p.Asp1131Tyr)
n.577-2497C>A
c.*3622-2497C>A (n.*3622-2497C>A)
c.4105G>T (p.Asp1369Tyr)
c.3229G>T (p.Asp1077Tyr)
c.2578G>T (p.Asp860Tyr)
c.2182G>T (p.Asp728Tyr)
c.1924G>T (p.Asp642Tyr)
c.3202G>T (p.Asp1068Tyr)
10g.75029092A=CA1920306603DUSP29,KAT6Bc.4268A= (p.Asp1423=)
c.3719A= (p.Asp1240=)
c.3392A= (p.Asp1131=)
n.577-2498T=
c.*3622-2498T= (n.*3622-2498T=)
c.4106A= (p.Asp1369=)
c.3230A= (p.Asp1077=)
c.2579A= (p.Asp860=)
c.2183A= (p.Asp728=)
c.1925A= (p.Asp642=)
c.3203A= (p.Asp1068=)
10g.75029092A>CCA377296581DUSP29,KAT6Bc.4268A>C (p.Asp1423Ala)
c.3719A>C (p.Asp1240Ala)
c.3392A>C (p.Asp1131Ala)
n.577-2498T>G
c.*3622-2498T>G (n.*3622-2498T>G)
c.4106A>C (p.Asp1369Ala)
c.3230A>C (p.Asp1077Ala)
c.2579A>C (p.Asp860Ala)
c.2183A>C (p.Asp728Ala)
c.1925A>C (p.Asp642Ala)
c.3203A>C (p.Asp1068Ala)
10g.75029092A>GCA377296580DUSP29,KAT6Bc.4268A>G (p.Asp1423Gly)
c.3719A>G (p.Asp1240Gly)
c.3392A>G (p.Asp1131Gly)
n.577-2498T>C
c.*3622-2498T>C (n.*3622-2498T>C)
c.4106A>G (p.Asp1369Gly)
c.3230A>G (p.Asp1077Gly)
c.2579A>G (p.Asp860Gly)
c.2183A>G (p.Asp728Gly)
c.1925A>G (p.Asp642Gly)
c.3203A>G (p.Asp1068Gly)
10g.75029092A>TCA377296579DUSP29,KAT6Bc.4268A>T (p.Asp1423Val)
c.3719A>T (p.Asp1240Val)
c.3392A>T (p.Asp1131Val)
n.577-2498T>A
c.*3622-2498T>A (n.*3622-2498T>A)
c.4106A>T (p.Asp1369Val)
c.3230A>T (p.Asp1077Val)
c.2579A>T (p.Asp860Val)
c.2183A>T (p.Asp728Val)
c.1925A>T (p.Asp642Val)
c.3203A>T (p.Asp1068Val)
dbSNP gnomAD v2 gnomAD v4
10g.75029093C>ACA377296582DUSP29,KAT6Bc.4269C>A (p.Asp1423Glu)
c.3720C>A (p.Asp1240Glu)
c.3393C>A (p.Asp1131Glu)
n.577-2499G>T
c.*3622-2499G>T (n.*3622-2499G>T)
c.4107C>A (p.Asp1369Glu)
c.3231C>A (p.Asp1077Glu)
c.2580C>A (p.Asp860Glu)
c.2184C>A (p.Asp728Glu)
c.1926C>A (p.Asp642Glu)
c.3204C>A (p.Asp1068Glu)
dbSNP gnomAD v2 gnomAD v4
10g.75029093C=CA1920306604DUSP29,KAT6Bc.4269C= (p.Asp1423=)
c.3720C= (p.Asp1240=)
c.3393C= (p.Asp1131=)
n.577-2499G=
c.*3622-2499G= (n.*3622-2499G=)
c.4107C= (p.Asp1369=)
c.3231C= (p.Asp1077=)
c.2580C= (p.Asp860=)
c.2184C= (p.Asp728=)
c.1926C= (p.Asp642=)
c.3204C= (p.Asp1068=)
10g.75029093C>GCA377296583DUSP29,KAT6Bc.4269C>G (p.Asp1423Glu)
c.3720C>G (p.Asp1240Glu)
c.3393C>G (p.Asp1131Glu)
n.577-2499G>C
c.*3622-2499G>C (n.*3622-2499G>C)
c.4107C>G (p.Asp1369Glu)
c.3231C>G (p.Asp1077Glu)
c.2580C>G (p.Asp860Glu)
c.2184C>G (p.Asp728Glu)
c.1926C>G (p.Asp642Glu)
c.3204C>G (p.Asp1068Glu)
10g.75029093C>TCA470299934DUSP29,KAT6Bc.4269C>T (p.Asp1423=)
c.3720C>T (p.Asp1240=)
c.3393C>T (p.Asp1131=)
n.577-2499G>A
c.*3622-2499G>A (n.*3622-2499G>A)
c.4107C>T (p.Asp1369=)
c.3231C>T (p.Asp1077=)
c.2580C>T (p.Asp860=)
c.2184C>T (p.Asp728=)
c.1926C>T (p.Asp642=)
c.3204C>T (p.Asp1068=)
10g.75029094C>ACA377296584DUSP29,KAT6Bc.4270C>A (p.His1424Asn)
c.3721C>A (p.His1241Asn)
c.3394C>A (p.His1132Asn)
n.577-2500G>T
c.*3622-2500G>T (n.*3622-2500G>T)
c.4108C>A (p.His1370Asn)
c.3232C>A (p.His1078Asn)
c.2581C>A (p.His861Asn)
c.2185C>A (p.His729Asn)
c.1927C>A (p.His643Asn)
c.3205C>A (p.His1069Asn)
10g.75029094C=CA1920306605DUSP29,KAT6Bc.4270C= (p.His1424=)
c.3721C= (p.His1241=)
c.3394C= (p.His1132=)
n.577-2500G=
c.*3622-2500G= (n.*3622-2500G=)
c.4108C= (p.His1370=)
c.3232C= (p.His1078=)
c.2581C= (p.His861=)
c.2185C= (p.His729=)
c.1927C= (p.His643=)
c.3205C= (p.His1069=)
10g.75029094C>GCA377296585DUSP29,KAT6Bc.4270C>G (p.His1424Asp)
c.3721C>G (p.His1241Asp)
c.3394C>G (p.His1132Asp)
n.577-2500G>C
c.*3622-2500G>C (n.*3622-2500G>C)
c.4108C>G (p.His1370Asp)
c.3232C>G (p.His1078Asp)
c.2581C>G (p.His861Asp)
c.2185C>G (p.His729Asp)
c.1927C>G (p.His643Asp)
c.3205C>G (p.His1069Asp)
dbSNP gnomAD v4
10g.75029094C>TCA377296586DUSP29,KAT6Bc.4270C>T (p.His1424Tyr)
c.3721C>T (p.His1241Tyr)
c.3394C>T (p.His1132Tyr)
n.577-2500G>A
c.*3622-2500G>A (n.*3622-2500G>A)
c.4108C>T (p.His1370Tyr)
c.3232C>T (p.His1078Tyr)
c.2581C>T (p.His861Tyr)
c.2185C>T (p.His729Tyr)
c.1927C>T (p.His643Tyr)
c.3205C>T (p.His1069Tyr)
10g.75029095A=CA1920306606DUSP29,KAT6Bc.4271A= (p.His1424=)
c.3722A= (p.His1241=)
c.3395A= (p.His1132=)
n.577-2501T=
c.*3622-2501T= (n.*3622-2501T=)
c.4109A= (p.His1370=)
c.3233A= (p.His1078=)
c.2582A= (p.His861=)
c.2186A= (p.His729=)
c.1928A= (p.His643=)
c.3206A= (p.His1069=)
10g.75029095A>CCA377296587DUSP29,KAT6Bc.4271A>C (p.His1424Pro)
c.3722A>C (p.His1241Pro)
c.3395A>C (p.His1132Pro)
n.577-2501T>G
c.*3622-2501T>G (n.*3622-2501T>G)
c.4109A>C (p.His1370Pro)
c.3233A>C (p.His1078Pro)
c.2582A>C (p.His861Pro)
c.2186A>C (p.His729Pro)
c.1928A>C (p.His643Pro)
c.3206A>C (p.His1069Pro)
10g.75029095A>GCA5565008DUSP29,KAT6Bc.4271A>G (p.His1424Arg)
c.3722A>G (p.His1241Arg)
c.3395A>G (p.His1132Arg)
n.577-2501T>C
c.*3622-2501T>C (n.*3622-2501T>C)
c.4109A>G (p.His1370Arg)
c.3233A>G (p.His1078Arg)
c.2582A>G (p.His861Arg)
c.2186A>G (p.His729Arg)
c.1928A>G (p.His643Arg)
c.3206A>G (p.His1069Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029095A>TCA377296588DUSP29,KAT6Bc.4271A>T (p.His1424Leu)
c.3722A>T (p.His1241Leu)
c.3395A>T (p.His1132Leu)
n.577-2501T>A
c.*3622-2501T>A (n.*3622-2501T>A)
c.4109A>T (p.His1370Leu)
c.3233A>T (p.His1078Leu)
c.2582A>T (p.His861Leu)
c.2186A>T (p.His729Leu)
c.1928A>T (p.His643Leu)
c.3206A>T (p.His1069Leu)
10g.75029096T>ACA377296589DUSP29,KAT6Bc.4272T>A (p.His1424Gln)
c.3723T>A (p.His1241Gln)
c.3396T>A (p.His1132Gln)
n.577-2502A>T
c.*3622-2502A>T (n.*3622-2502A>T)
c.4110T>A (p.His1370Gln)
c.3234T>A (p.His1078Gln)
c.2583T>A (p.His861Gln)
c.2187T>A (p.His729Gln)
c.1929T>A (p.His643Gln)
c.3207T>A (p.His1069Gln)
10g.75029096T>CCA5565009DUSP29,KAT6Bc.4272T>C (p.His1424=)
c.3723T>C (p.His1241=)
c.3396T>C (p.His1132=)
n.577-2502A>G
c.*3622-2502A>G (n.*3622-2502A>G)
c.4110T>C (p.His1370=)
c.3234T>C (p.His1078=)
c.2583T>C (p.His861=)
c.2187T>C (p.His729=)
c.1929T>C (p.His643=)
c.3207T>C (p.His1069=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.75029096T>GCA377296590DUSP29,KAT6Bc.4272T>G (p.His1424Gln)
c.3723T>G (p.His1241Gln)
c.3396T>G (p.His1132Gln)
n.577-2502A>C
c.*3622-2502A>C (n.*3622-2502A>C)
c.4110T>G (p.His1370Gln)
c.3234T>G (p.His1078Gln)
c.2583T>G (p.His861Gln)
c.2187T>G (p.His729Gln)
c.1929T>G (p.His643Gln)
c.3207T>G (p.His1069Gln)
10g.75029096T=CA1920306607DUSP29,KAT6Bc.4272T= (p.His1424=)
c.3723T= (p.His1241=)
c.3396T= (p.His1132=)
n.577-2502A=
c.*3622-2502A= (n.*3622-2502A=)
c.4110T= (p.His1370=)
c.3234T= (p.His1078=)
c.2583T= (p.His861=)
c.2187T= (p.His729=)
c.1929T= (p.His643=)
c.3207T= (p.His1069=)
10g.75029097G>ACA377296591DUSP29,KAT6Bc.4273G>A (p.Asp1425Asn)
c.3724G>A (p.Asp1242Asn)
c.3397G>A (p.Asp1133Asn)
n.577-2503C>T
c.*3622-2503C>T (n.*3622-2503C>T)
c.4111G>A (p.Asp1371Asn)
c.3235G>A (p.Asp1079Asn)
c.2584G>A (p.Asp862Asn)
c.2188G>A (p.Asp730Asn)
c.1930G>A (p.Asp644Asn)
c.3208G>A (p.Asp1070Asn)
10g.75029097G>CCA377296592DUSP29,KAT6Bc.4273G>C (p.Asp1425His)
c.3724G>C (p.Asp1242His)
c.3397G>C (p.Asp1133His)
n.577-2503C>G
c.*3622-2503C>G (n.*3622-2503C>G)
c.4111G>C (p.Asp1371His)
c.3235G>C (p.Asp1079His)
c.2584G>C (p.Asp862His)
c.2188G>C (p.Asp730His)
c.1930G>C (p.Asp644His)
c.3208G>C (p.Asp1070His)
gnomAD v4

Number of alleles fetched