Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.75029084C>A | CA377296559 | DUSP29,KAT6B | c.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) | |
10 | g.75029084C>G | CA377296560 | DUSP29,KAT6B | c.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 |
10 | g.75029084C>T | CA470299915 | DUSP29,KAT6B | c.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=) | |
10 | g.75029085A>C | CA377296562 | DUSP29,KAT6B | c.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) | |
10 | g.75029085A>G | CA377296563 | DUSP29,KAT6B | c.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) | |
10 | g.75029085A>T | CA377296561 | DUSP29,KAT6B | c.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) | |
10 | g.75029086A>C | CA377296564 | DUSP29,KAT6B | c.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) | |
10 | g.75029086A>G | CA377296566 | DUSP29,KAT6B | c.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) | |
10 | g.75029086A>T | CA377296565 | DUSP29,KAT6B | c.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) | |
10 | g.75029087C>A | CA377296567 | DUSP29,KAT6B | c.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) | |
10 | g.75029087C= | CA1920306599 | DUSP29,KAT6B | c.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=) | |
10 | g.75029087C>G | CA377296568 | DUSP29,KAT6B | c.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 |
10 | g.75029087C>T | CA5565006 | DUSP29,KAT6B | c.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 |
10 | g.75029088G>A | CA377296569 | DUSP29,KAT6B | c.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 |
10 | g.75029088G>C | CA377296570 | DUSP29,KAT6B | c.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) | |
10 | g.75029088G= | CA1920306600 | DUSP29,KAT6B | c.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=) | |
10 | g.75029088G>T | CA377296571 | DUSP29,KAT6B | c.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) | |
10 | g.75029089A= | CA1920306601 | DUSP29,KAT6B | c.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=) | |
10 | g.75029089A>C | CA377296572 | DUSP29,KAT6B | c.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) | |
10 | g.75029089A>G | CA5565007 | DUSP29,KAT6B | c.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 |
10 | g.75029089A>T | CA377296573 | DUSP29,KAT6B | c.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) | |
10 | g.75029090G>A | CA470299925 | DUSP29,KAT6B | c.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=) | |
10 | g.75029090G>C | CA377296574 | DUSP29,KAT6B | c.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) | |
10 | g.75029090G>T | CA377296575 | DUSP29,KAT6B | c.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) | |
10 | g.75029091G>A | CA377296576 | DUSP29,KAT6B | c.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 |
10 | g.75029091G>C | CA377296577 | DUSP29,KAT6B | c.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) | |
10 | g.75029091G= | CA1920306602 | DUSP29,KAT6B | c.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=) | |
10 | g.75029091G>T | CA377296578 | DUSP29,KAT6B | c.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) | |
10 | g.75029092A= | CA1920306603 | DUSP29,KAT6B | c.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=) | |
10 | g.75029092A>C | CA377296581 | DUSP29,KAT6B | c.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) | |
10 | g.75029092A>G | CA377296580 | DUSP29,KAT6B | c.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) | |
10 | g.75029092A>T | CA377296579 | DUSP29,KAT6B | c.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 |
10 | g.75029093C>A | CA377296582 | DUSP29,KAT6B | c.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 |
10 | g.75029093C= | CA1920306604 | DUSP29,KAT6B | c.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=) | |
10 | g.75029093C>G | CA377296583 | DUSP29,KAT6B | c.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) | |
10 | g.75029093C>T | CA470299934 | DUSP29,KAT6B | c.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=) | |
10 | g.75029094C>A | CA377296584 | DUSP29,KAT6B | c.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) | |
10 | g.75029094C= | CA1920306605 | DUSP29,KAT6B | c.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=) | |
10 | g.75029094C>G | CA377296585 | DUSP29,KAT6B | c.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 |
10 | g.75029094C>T | CA377296586 | DUSP29,KAT6B | c.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) | |
10 | g.75029095A= | CA1920306606 | DUSP29,KAT6B | c.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=) | |
10 | g.75029095A>C | CA377296587 | DUSP29,KAT6B | c.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) | |
10 | g.75029095A>G | CA5565008 | DUSP29,KAT6B | c.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 |
10 | g.75029095A>T | CA377296588 | DUSP29,KAT6B | c.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) | |
10 | g.75029096T>A | CA377296589 | DUSP29,KAT6B | c.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) | |
10 | g.75029096T>C | CA5565009 | DUSP29,KAT6B | c.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 |
10 | g.75029096T>G | CA377296590 | DUSP29,KAT6B | c.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) | |
10 | g.75029096T= | CA1920306607 | DUSP29,KAT6B | c.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=) | |
10 | g.75029097G>A | CA377296591 | DUSP29,KAT6B | c.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) | |
10 | g.75029097G>C | CA377296592 | DUSP29,KAT6B | c.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 |