Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60860948_60860951delinsCCCACA1788120595CHD7n.829_832delinsCCCA
n.33_36delinsCCCA
c.*712_*715delinsCCCA (n.*712_*715delinsCCCA)
c.7653_7656delinsCCCA (p.Thr2551=)
c.1717-1281_1717-1278delinsCCCA (n.1717-1281_1717-1278delinsCCCA)
n.77_80delinsCCCA
n.45_48delinsCCCA
c.7743_7746delinsCCCA (p.Thr2581=)
c.7740_7743delinsCCCA (p.Thr2580=)
c.7699-1248_7699-1245delinsCCCA (n.7699-1248_7699-1245delinsCCCA)
c.5730_5733delinsCCCA (p.Thr1910=)
c.5280_5283delinsCCCA (p.Thr1760=)
c.4488_4491delinsCCCA (p.Thr1496=)
c.7650_7653delinsCCCA (p.Thr2550=)
8g.60860952_60860954delCA1114440570CHD7n.833_835del
n.37_39del
c.*716_*718del (n.*716_*718del)
c.7657_7659del (p.Pro2553del)
c.1717-1277_1717-1275del (n.1717-1277_1717-1275del)
n.81_83del
n.49_51del
c.7747_7749del (p.Pro2583del)
c.7744_7746del (p.Pro2582del)
c.7699-1244_7699-1242del (n.7699-1244_7699-1242del)
c.5734_5736del (p.Pro1912del)
c.5284_5286del (p.Pro1762del)
c.4492_4494del (p.Pro1498del)
c.7654_7656del (p.Pro2552del)
 dbSNP gnomAD v3 gnomAD v4
8g.60860951A>CCA460846417CHD7n.832A>C
n.36A>C
c.*715A>C (n.*715A>C)
c.7656A>C (p.Pro2552=)
c.1717-1278A>C (n.1717-1278A>C)
n.80A>C
n.48A>C
c.7746A>C (p.Pro2582=)
c.7743A>C (p.Pro2581=)
c.7699-1245A>C (n.7699-1245A>C)
c.5733A>C (p.Pro1911=)
c.5283A>C (p.Pro1761=)
c.4491A>C (p.Pro1497=)
c.7653A>C (p.Pro2551=)
8g.60860951A>GCA460846419CHD7n.832A>G
n.36A>G
c.*715A>G (n.*715A>G)
c.7656A>G (p.Pro2552=)
c.1717-1278A>G (n.1717-1278A>G)
n.80A>G
n.48A>G
c.7746A>G (p.Pro2582=)
c.7743A>G (p.Pro2581=)
c.7699-1245A>G (n.7699-1245A>G)
c.5733A>G (p.Pro1911=)
c.5283A>G (p.Pro1761=)
c.4491A>G (p.Pro1497=)
c.7653A>G (p.Pro2551=)
8g.60860951A>TCA460846416CHD7n.832A>T
n.36A>T
c.*715A>T (n.*715A>T)
c.7656A>T (p.Pro2552=)
c.1717-1278A>T (n.1717-1278A>T)
n.80A>T
n.48A>T
c.7746A>T (p.Pro2582=)
c.7743A>T (p.Pro2581=)
c.7699-1245A>T (n.7699-1245A>T)
c.5733A>T (p.Pro1911=)
c.5283A>T (p.Pro1761=)
c.4491A>T (p.Pro1497=)
c.7653A>T (p.Pro2551=)
8g.60860952C>ACA371304319CHD7n.833C>A
n.37C>A
c.*716C>A (n.*716C>A)
c.7657C>A (p.Pro2553Thr)
c.1717-1277C>A (n.1717-1277C>A)
n.81C>A
n.49C>A
c.7747C>A (p.Pro2583Thr)
c.7744C>A (p.Pro2582Thr)
c.7699-1244C>A (n.7699-1244C>A)
c.5734C>A (p.Pro1912Thr)
c.5284C>A (p.Pro1762Thr)
c.4492C>A (p.Pro1498Thr)
c.7654C>A (p.Pro2552Thr)
8g.60860952C>GCA371304321CHD7n.833C>G
n.37C>G
c.*716C>G (n.*716C>G)
c.7657C>G (p.Pro2553Ala)
c.1717-1277C>G (n.1717-1277C>G)
n.81C>G
n.49C>G
c.7747C>G (p.Pro2583Ala)
c.7744C>G (p.Pro2582Ala)
c.7699-1244C>G (n.7699-1244C>G)
c.5734C>G (p.Pro1912Ala)
c.5284C>G (p.Pro1762Ala)
c.4492C>G (p.Pro1498Ala)
c.7654C>G (p.Pro2552Ala)
8g.60860952C>TCA371304323CHD7n.833C>T
n.37C>T
c.*716C>T (n.*716C>T)
c.7657C>T (p.Pro2553Ser)
c.1717-1277C>T (n.1717-1277C>T)
n.81C>T
n.49C>T
c.7747C>T (p.Pro2583Ser)
c.7744C>T (p.Pro2582Ser)
c.7699-1244C>T (n.7699-1244C>T)
c.5734C>T (p.Pro1912Ser)
c.5284C>T (p.Pro1762Ser)
c.4492C>T (p.Pro1498Ser)
c.7654C>T (p.Pro2552Ser)
 ClinVar
8g.60860953C>ACA371304329CHD7n.834C>A
n.38C>A
c.*717C>A (n.*717C>A)
c.7658C>A (p.Pro2553Gln)
c.1717-1276C>A (n.1717-1276C>A)
n.82C>A
n.50C>A
c.7748C>A (p.Pro2583Gln)
c.7745C>A (p.Pro2582Gln)
c.7699-1243C>A (n.7699-1243C>A)
c.5735C>A (p.Pro1912Gln)
c.5285C>A (p.Pro1762Gln)
c.4493C>A (p.Pro1498Gln)
c.7655C>A (p.Pro2552Gln)
8g.60860953C>GCA371304327CHD7n.834C>G
n.38C>G
c.*717C>G (n.*717C>G)
c.7658C>G (p.Pro2553Arg)
c.1717-1276C>G (n.1717-1276C>G)
n.82C>G
n.50C>G
c.7748C>G (p.Pro2583Arg)
c.7745C>G (p.Pro2582Arg)
c.7699-1243C>G (n.7699-1243C>G)
c.5735C>G (p.Pro1912Arg)
c.5285C>G (p.Pro1762Arg)
c.4493C>G (p.Pro1498Arg)
c.7655C>G (p.Pro2552Arg)
8g.60860953C>TCA371304325CHD7n.834C>T
n.38C>T
c.*717C>T (n.*717C>T)
c.7658C>T (p.Pro2553Leu)
c.1717-1276C>T (n.1717-1276C>T)
n.82C>T
n.50C>T
c.7748C>T (p.Pro2583Leu)
c.7745C>T (p.Pro2582Leu)
c.7699-1243C>T (n.7699-1243C>T)
c.5735C>T (p.Pro1912Leu)
c.5285C>T (p.Pro1762Leu)
c.4493C>T (p.Pro1498Leu)
c.7655C>T (p.Pro2552Leu)
8g.60860956_60860958delCA645546301CHD7n.837_839del
n.41_43del
c.*720_*722del (n.*720_*722del)
c.7661_7663del (p.Thr2554del)
c.1717-1273_1717-1271del (n.1717-1273_1717-1271del)
n.85_87del
n.53_55del
c.7751_7753del (p.Thr2584del)
c.7748_7750del (p.Thr2583del)
c.7699-1240_7699-1238del (n.7699-1240_7699-1238del)
c.5738_5740del (p.Thr1913del)
c.5288_5290del (p.Thr1763del)
c.4496_4498del (p.Thr1499del)
c.7658_7660del (p.Thr2553del)
 COSMIC
8g.60860954A>CCA460846421CHD7n.835A>C
n.39A>C
c.*718A>C (n.*718A>C)
c.7659A>C (p.Pro2553=)
c.1717-1275A>C (n.1717-1275A>C)
n.83A>C
n.51A>C
c.7749A>C (p.Pro2583=)
c.7746A>C (p.Pro2582=)
c.7699-1242A>C (n.7699-1242A>C)
c.5736A>C (p.Pro1912=)
c.5286A>C (p.Pro1762=)
c.4494A>C (p.Pro1498=)
c.7656A>C (p.Pro2552=)
8g.60860954A>GCA460846423CHD7n.835A>G
n.39A>G
c.*718A>G (n.*718A>G)
c.7659A>G (p.Pro2553=)
c.1717-1275A>G (n.1717-1275A>G)
n.83A>G
n.51A>G
c.7749A>G (p.Pro2583=)
c.7746A>G (p.Pro2582=)
c.7699-1242A>G (n.7699-1242A>G)
c.5736A>G (p.Pro1912=)
c.5286A>G (p.Pro1762=)
c.4494A>G (p.Pro1498=)
c.7656A>G (p.Pro2552=)
8g.60860954A>TCA460846425CHD7n.835A>T
n.39A>T
c.*718A>T (n.*718A>T)
c.7659A>T (p.Pro2553=)
c.1717-1275A>T (n.1717-1275A>T)
n.83A>T
n.51A>T
c.7749A>T (p.Pro2583=)
c.7746A>T (p.Pro2582=)
c.7699-1242A>T (n.7699-1242A>T)
c.5736A>T (p.Pro1912=)
c.5286A>T (p.Pro1762=)
c.4494A>T (p.Pro1498=)
c.7656A>T (p.Pro2552=)
8g.60860955A>CCA371304331CHD7n.836A>C
n.40A>C
c.*719A>C (n.*719A>C)
c.7660A>C (p.Thr2554Pro)
c.1717-1274A>C (n.1717-1274A>C)
n.84A>C
n.52A>C
c.7750A>C (p.Thr2584Pro)
c.7747A>C (p.Thr2583Pro)
c.7699-1241A>C (n.7699-1241A>C)
c.5737A>C (p.Thr1913Pro)
c.5287A>C (p.Thr1763Pro)
c.4495A>C (p.Thr1499Pro)
c.7657A>C (p.Thr2553Pro)
8g.60860955A>GCA371304333CHD7n.836A>G
n.40A>G
c.*719A>G (n.*719A>G)
c.7660A>G (p.Thr2554Ala)
c.1717-1274A>G (n.1717-1274A>G)
n.84A>G
n.52A>G
c.7750A>G (p.Thr2584Ala)
c.7747A>G (p.Thr2583Ala)
c.7699-1241A>G (n.7699-1241A>G)
c.5737A>G (p.Thr1913Ala)
c.5287A>G (p.Thr1763Ala)
c.4495A>G (p.Thr1499Ala)
c.7657A>G (p.Thr2553Ala)
 gnomAD v4
8g.60860955A>TCA371304335CHD7n.836A>T
n.40A>T
c.*719A>T (n.*719A>T)
c.7660A>T (p.Thr2554Ser)
c.1717-1274A>T (n.1717-1274A>T)
n.84A>T
n.52A>T
c.7750A>T (p.Thr2584Ser)
c.7747A>T (p.Thr2583Ser)
c.7699-1241A>T (n.7699-1241A>T)
c.5737A>T (p.Thr1913Ser)
c.5287A>T (p.Thr1763Ser)
c.4495A>T (p.Thr1499Ser)
c.7657A>T (p.Thr2553Ser)
8g.60860956C>ACA4760857CHD7n.837C>A
n.41C>A
c.*720C>A (n.*720C>A)
c.7661C>A (p.Thr2554Lys)
c.1717-1273C>A (n.1717-1273C>A)
n.85C>A
n.53C>A
c.7751C>A (p.Thr2584Lys)
c.7748C>A (p.Thr2583Lys)
c.7699-1240C>A (n.7699-1240C>A)
c.5738C>A (p.Thr1913Lys)
c.5288C>A (p.Thr1763Lys)
c.4496C>A (p.Thr1499Lys)
c.7658C>A (p.Thr2553Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60860956C=CA1788120604CHD7n.837C=
n.41C=
c.*720C= (n.*720C=)
c.7661C= (p.Thr2554=)
c.1717-1273C= (n.1717-1273C=)
n.85C=
n.53C=
c.7751C= (p.Thr2584=)
c.7748C= (p.Thr2583=)
c.7699-1240C= (n.7699-1240C=)
c.5738C= (p.Thr1913=)
c.5288C= (p.Thr1763=)
c.4496C= (p.Thr1499=)
c.7658C= (p.Thr2553=)
8g.60860956C>GCA371304338CHD7n.837C>G
n.41C>G
c.*720C>G (n.*720C>G)
c.7661C>G (p.Thr2554Arg)
c.1717-1273C>G (n.1717-1273C>G)
n.85C>G
n.53C>G
c.7751C>G (p.Thr2584Arg)
c.7748C>G (p.Thr2583Arg)
c.7699-1240C>G (n.7699-1240C>G)
c.5738C>G (p.Thr1913Arg)
c.5288C>G (p.Thr1763Arg)
c.4496C>G (p.Thr1499Arg)
c.7658C>G (p.Thr2553Arg)
8g.60860956C>TCA371304339CHD7n.837C>T
n.41C>T
c.*720C>T (n.*720C>T)
c.7661C>T (p.Thr2554Ile)
c.1717-1273C>T (n.1717-1273C>T)
n.85C>T
n.53C>T
c.7751C>T (p.Thr2584Ile)
c.7748C>T (p.Thr2583Ile)
c.7699-1240C>T (n.7699-1240C>T)
c.5738C>T (p.Thr1913Ile)
c.5288C>T (p.Thr1763Ile)
c.4496C>T (p.Thr1499Ile)
c.7658C>T (p.Thr2553Ile)
8g.60860956_60860957delinsCACA1788120609CHD7n.837_838delinsCA
n.41_42delinsCA
c.*720_*721delinsCA (n.*720_*721delinsCA)
c.7661_7662delinsCA (p.Thr2554=)
c.1717-1273_1717-1272delinsCA (n.1717-1273_1717-1272delinsCA)
n.85_86delinsCA
n.53_54delinsCA
c.7751_7752delinsCA (p.Thr2584=)
c.7748_7749delinsCA (p.Thr2583=)
c.7699-1240_7699-1239delinsCA (n.7699-1240_7699-1239delinsCA)
c.5738_5739delinsCA (p.Thr1913=)
c.5288_5289delinsCA (p.Thr1763=)
c.4496_4497delinsCA (p.Thr1499=)
c.7658_7659delinsCA (p.Thr2553=)
8g.60860957A>CCA460846429CHD7n.838A>C
n.42A>C
c.*721A>C (n.*721A>C)
c.7662A>C (p.Thr2554=)
c.1717-1272A>C (n.1717-1272A>C)
n.86A>C
n.54A>C
c.7752A>C (p.Thr2584=)
c.7749A>C (p.Thr2583=)
c.7699-1239A>C (n.7699-1239A>C)
c.5739A>C (p.Thr1913=)
c.5289A>C (p.Thr1763=)
c.4497A>C (p.Thr1499=)
c.7659A>C (p.Thr2553=)
8g.60860957A>GCA460846430CHD7n.838A>G
n.42A>G
c.*721A>G (n.*721A>G)
c.7662A>G (p.Thr2554=)
c.1717-1272A>G (n.1717-1272A>G)
n.86A>G
n.54A>G
c.7752A>G (p.Thr2584=)
c.7749A>G (p.Thr2583=)
c.7699-1239A>G (n.7699-1239A>G)
c.5739A>G (p.Thr1913=)
c.5289A>G (p.Thr1763=)
c.4497A>G (p.Thr1499=)
c.7659A>G (p.Thr2553=)
8g.60860957A>TCA460846431CHD7n.838A>T
n.42A>T
c.*721A>T (n.*721A>T)
c.7662A>T (p.Thr2554=)
c.1717-1272A>T (n.1717-1272A>T)
n.86A>T
n.54A>T
c.7752A>T (p.Thr2584=)
c.7749A>T (p.Thr2583=)
c.7699-1239A>T (n.7699-1239A>T)
c.5739A>T (p.Thr1913=)
c.5289A>T (p.Thr1763=)
c.4497A>T (p.Thr1499=)
c.7659A>T (p.Thr2553=)
8g.60860958delCA338569CHD7n.839del
n.43del
c.*722del (n.*722del)
c.7663del (p.Arg2555GlufsTer?)
c.1717-1271del (n.1717-1271del)
n.87del
n.55del
c.7753del (p.Arg2585GlufsTer?)
c.7750del (p.Arg2584GlufsTer?)
c.7699-1238del (n.7699-1238del)
c.5740del (p.Arg1914GlufsTer?)
c.5290del (p.Arg1764GlufsTer?)
c.4498del (p.Arg1500GlufsTer?)
c.7660del (p.Arg2554GlufsTer?)
 ClinVar dbSNP
8g.60860958A=CA1788120620CHD7n.839A=
n.43A=
c.*722A= (n.*722A=)
c.7663A= (p.Arg2555=)
c.1717-1271A= (n.1717-1271A=)
n.87A=
n.55A=
c.7753A= (p.Arg2585=)
c.7750A= (p.Arg2584=)
c.7699-1238A= (n.7699-1238A=)
c.5740A= (p.Arg1914=)
c.5290A= (p.Arg1764=)
c.4498A= (p.Arg1500=)
c.7660A= (p.Arg2554=)
8g.60860958A>CCA460846432CHD7n.839A>C
n.43A>C
c.*722A>C (n.*722A>C)
c.7663A>C (p.Arg2555=)
c.1717-1271A>C (n.1717-1271A>C)
n.87A>C
n.55A>C
c.7753A>C (p.Arg2585=)
c.7750A>C (p.Arg2584=)
c.7699-1238A>C (n.7699-1238A>C)
c.5740A>C (p.Arg1914=)
c.5290A>C (p.Arg1764=)
c.4498A>C (p.Arg1500=)
c.7660A>C (p.Arg2554=)
8g.60860958A>GCA4760858CHD7n.839A>G
n.43A>G
c.*722A>G (n.*722A>G)
c.7663A>G (p.Arg2555Gly)
c.1717-1271A>G (n.1717-1271A>G)
n.87A>G
n.55A>G
c.7753A>G (p.Arg2585Gly)
c.7750A>G (p.Arg2584Gly)
c.7699-1238A>G (n.7699-1238A>G)
c.5740A>G (p.Arg1914Gly)
c.5290A>G (p.Arg1764Gly)
c.4498A>G (p.Arg1500Gly)
c.7660A>G (p.Arg2554Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60860958A>TCA371304344CHD7n.839A>T
n.43A>T
c.*722A>T (n.*722A>T)
c.7663A>T (p.Arg2555Ter)
c.1717-1271A>T (n.1717-1271A>T)
n.87A>T
n.55A>T
c.7753A>T (p.Arg2585Ter)
c.7750A>T (p.Arg2584Ter)
c.7699-1238A>T (n.7699-1238A>T)
c.5740A>T (p.Arg1914Ter)
c.5290A>T (p.Arg1764Ter)
c.4498A>T (p.Arg1500Ter)
c.7660A>T (p.Arg2554Ter)
8g.60860959G>ACA371304346CHD7n.840G>A
n.44G>A
c.*723G>A (n.*723G>A)
c.7664G>A (p.Arg2555Lys)
c.1717-1270G>A (n.1717-1270G>A)
n.88G>A
n.56G>A
c.7754G>A (p.Arg2585Lys)
c.7751G>A (p.Arg2584Lys)
c.7699-1237G>A (n.7699-1237G>A)
c.5741G>A (p.Arg1914Lys)
c.5291G>A (p.Arg1764Lys)
c.4499G>A (p.Arg1500Lys)
c.7661G>A (p.Arg2554Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.60860959G>CCA371304348CHD7n.840G>C
n.44G>C
c.*723G>C (n.*723G>C)
c.7664G>C (p.Arg2555Thr)
c.1717-1270G>C (n.1717-1270G>C)
n.88G>C
n.56G>C
c.7754G>C (p.Arg2585Thr)
c.7751G>C (p.Arg2584Thr)
c.7699-1237G>C (n.7699-1237G>C)
c.5741G>C (p.Arg1914Thr)
c.5291G>C (p.Arg1764Thr)
c.4499G>C (p.Arg1500Thr)
c.7661G>C (p.Arg2554Thr)
8g.60860959G=CA1788120627CHD7n.840G=
n.44G=
c.*723G= (n.*723G=)
c.7664G= (p.Arg2555=)
c.1717-1270G= (n.1717-1270G=)
n.88G=
n.56G=
c.7754G= (p.Arg2585=)
c.7751G= (p.Arg2584=)
c.7699-1237G= (n.7699-1237G=)
c.5741G= (p.Arg1914=)
c.5291G= (p.Arg1764=)
c.4499G= (p.Arg1500=)
c.7661G= (p.Arg2554=)
8g.60860959G>TCA371304350CHD7n.840G>T
n.44G>T
c.*723G>T (n.*723G>T)
c.7664G>T (p.Arg2555Ile)
c.1717-1270G>T (n.1717-1270G>T)
n.88G>T
n.56G>T
c.7754G>T (p.Arg2585Ile)
c.7751G>T (p.Arg2584Ile)
c.7699-1237G>T (n.7699-1237G>T)
c.5741G>T (p.Arg1914Ile)
c.5291G>T (p.Arg1764Ile)
c.4499G>T (p.Arg1500Ile)
c.7661G>T (p.Arg2554Ile)
8g.60860960A>CCA371304354CHD7n.841A>C
n.45A>C
c.*724A>C (n.*724A>C)
c.7665A>C (p.Arg2555Ser)
c.1717-1269A>C (n.1717-1269A>C)
n.89A>C
n.57A>C
c.7755A>C (p.Arg2585Ser)
c.7752A>C (p.Arg2584Ser)
c.7699-1236A>C (n.7699-1236A>C)
c.5742A>C (p.Arg1914Ser)
c.5292A>C (p.Arg1764Ser)
c.4500A>C (p.Arg1500Ser)
c.7662A>C (p.Arg2554Ser)
8g.60860960A>GCA460846434CHD7n.841A>G
n.45A>G
c.*724A>G (n.*724A>G)
c.7665A>G (p.Arg2555=)
c.1717-1269A>G (n.1717-1269A>G)
n.89A>G
n.57A>G
c.7755A>G (p.Arg2585=)
c.7752A>G (p.Arg2584=)
c.7699-1236A>G (n.7699-1236A>G)
c.5742A>G (p.Arg1914=)
c.5292A>G (p.Arg1764=)
c.4500A>G (p.Arg1500=)
c.7662A>G (p.Arg2554=)
 gnomAD v3 gnomAD v4
8g.60860960A>TCA371304352CHD7n.841A>T
n.45A>T
c.*724A>T (n.*724A>T)
c.7665A>T (p.Arg2555Ser)
c.1717-1269A>T (n.1717-1269A>T)
n.89A>T
n.57A>T
c.7755A>T (p.Arg2585Ser)
c.7752A>T (p.Arg2584Ser)
c.7699-1236A>T (n.7699-1236A>T)
c.5742A>T (p.Arg1914Ser)
c.5292A>T (p.Arg1764Ser)
c.4500A>T (p.Arg1500Ser)
c.7662A>T (p.Arg2554Ser)
8g.60860961A>CCA371304356CHD7n.842A>C
n.46A>C
c.*725A>C (n.*725A>C)
c.7666A>C (p.Asn2556His)
c.1717-1268A>C (n.1717-1268A>C)
n.90A>C
n.58A>C
c.7756A>C (p.Asn2586His)
c.7753A>C (p.Asn2585His)
c.7699-1235A>C (n.7699-1235A>C)
c.5743A>C (p.Asn1915His)
c.5293A>C (p.Asn1765His)
c.4501A>C (p.Asn1501His)
c.7663A>C (p.Asn2555His)
8g.60860961A>GCA371304358CHD7n.842A>G
n.46A>G
c.*725A>G (n.*725A>G)
c.7666A>G (p.Asn2556Asp)
c.1717-1268A>G (n.1717-1268A>G)
n.90A>G
n.58A>G
c.7756A>G (p.Asn2586Asp)
c.7753A>G (p.Asn2585Asp)
c.7699-1235A>G (n.7699-1235A>G)
c.5743A>G (p.Asn1915Asp)
c.5293A>G (p.Asn1765Asp)
c.4501A>G (p.Asn1501Asp)
c.7663A>G (p.Asn2555Asp)
8g.60860961A>TCA371304359CHD7n.842A>T
n.46A>T
c.*725A>T (n.*725A>T)
c.7666A>T (p.Asn2556Tyr)
c.1717-1268A>T (n.1717-1268A>T)
n.90A>T
n.58A>T
c.7756A>T (p.Asn2586Tyr)
c.7753A>T (p.Asn2585Tyr)
c.7699-1235A>T (n.7699-1235A>T)
c.5743A>T (p.Asn1915Tyr)
c.5293A>T (p.Asn1765Tyr)
c.4501A>T (p.Asn1501Tyr)
c.7663A>T (p.Asn2555Tyr)
8g.60860962A>CCA371304362CHD7n.843A>C
n.47A>C
c.*726A>C (n.*726A>C)
c.7667A>C (p.Asn2556Thr)
c.1717-1267A>C (n.1717-1267A>C)
n.91A>C
n.59A>C
c.7757A>C (p.Asn2586Thr)
c.7754A>C (p.Asn2585Thr)
c.7699-1234A>C (n.7699-1234A>C)
c.5744A>C (p.Asn1915Thr)
c.5294A>C (p.Asn1765Thr)
c.4502A>C (p.Asn1501Thr)
c.7664A>C (p.Asn2555Thr)
8g.60860962A>GCA371304364CHD7n.843A>G
n.47A>G
c.*726A>G (n.*726A>G)
c.7667A>G (p.Asn2556Ser)
c.1717-1267A>G (n.1717-1267A>G)
n.91A>G
n.59A>G
c.7757A>G (p.Asn2586Ser)
c.7754A>G (p.Asn2585Ser)
c.7699-1234A>G (n.7699-1234A>G)
c.5744A>G (p.Asn1915Ser)
c.5294A>G (p.Asn1765Ser)
c.4502A>G (p.Asn1501Ser)
c.7664A>G (p.Asn2555Ser)
 gnomAD v4
8g.60860962A>TCA371304365CHD7n.843A>T
n.47A>T
c.*726A>T (n.*726A>T)
c.7667A>T (p.Asn2556Ile)
c.1717-1267A>T (n.1717-1267A>T)
n.91A>T
n.59A>T
c.7757A>T (p.Asn2586Ile)
c.7754A>T (p.Asn2585Ile)
c.7699-1234A>T (n.7699-1234A>T)
c.5744A>T (p.Asn1915Ile)
c.5294A>T (p.Asn1765Ile)
c.4502A>T (p.Asn1501Ile)
c.7664A>T (p.Asn2555Ile)
8g.60860963C>ACA371304367CHD7n.844C>A
n.48C>A
c.*727C>A (n.*727C>A)
c.7668C>A (p.Asn2556Lys)
c.1717-1266C>A (n.1717-1266C>A)
n.92C>A
n.60C>A
c.7758C>A (p.Asn2586Lys)
c.7755C>A (p.Asn2585Lys)
c.7699-1233C>A (n.7699-1233C>A)
c.5745C>A (p.Asn1915Lys)
c.5295C>A (p.Asn1765Lys)
c.4503C>A (p.Asn1501Lys)
c.7665C>A (p.Asn2555Lys)
8g.60860963C=CA1788120633CHD7n.844C=
n.48C=
c.*727C= (n.*727C=)
c.7668C= (p.Asn2556=)
c.1717-1266C= (n.1717-1266C=)
n.92C=
n.60C=
c.7758C= (p.Asn2586=)
c.7755C= (p.Asn2585=)
c.7699-1233C= (n.7699-1233C=)
c.5745C= (p.Asn1915=)
c.5295C= (p.Asn1765=)
c.4503C= (p.Asn1501=)
c.7665C= (p.Asn2555=)
8g.60860963C>GCA371304369CHD7n.844C>G
n.48C>G
c.*727C>G (n.*727C>G)
c.7668C>G (p.Asn2556Lys)
c.1717-1266C>G (n.1717-1266C>G)
n.92C>G
n.60C>G
c.7758C>G (p.Asn2586Lys)
c.7755C>G (p.Asn2585Lys)
c.7699-1233C>G (n.7699-1233C>G)
c.5745C>G (p.Asn1915Lys)
c.5295C>G (p.Asn1765Lys)
c.4503C>G (p.Asn1501Lys)
c.7665C>G (p.Asn2555Lys)
 gnomAD v4
8g.60860963C>TCA4760859CHD7n.844C>T
n.48C>T
c.*727C>T (n.*727C>T)
c.7668C>T (p.Asn2556=)
c.1717-1266C>T (n.1717-1266C>T)
n.92C>T
n.60C>T
c.7758C>T (p.Asn2586=)
c.7755C>T (p.Asn2585=)
c.7699-1233C>T (n.7699-1233C>T)
c.5745C>T (p.Asn1915=)
c.5295C>T (p.Asn1765=)
c.4503C>T (p.Asn1501=)
c.7665C>T (p.Asn2555=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.60860964delCA2739289507CHD7n.845del
n.49del
c.*728del (n.*728del)
c.7669del (p.Ile2557PhefsTer?)
c.1717-1265del (n.1717-1265del)
n.93del
n.61del
c.7759del (p.Ile2587PhefsTer?)
c.7756del (p.Ile2586PhefsTer?)
c.7699-1232del (n.7699-1232del)
c.5746del (p.Ile1916PhefsTer?)
c.5296del (p.Ile1766PhefsTer?)
c.4504del (p.Ile1502PhefsTer?)
c.7666del (p.Ile2556PhefsTer?)
8g.60860964A=CA1788120637CHD7n.845A=
n.49A=
c.*728A= (n.*728A=)
c.7669A= (p.Ile2557=)
c.1717-1265A= (n.1717-1265A=)
n.93A=
n.61A=
c.7759A= (p.Ile2587=)
c.7756A= (p.Ile2586=)
c.7699-1232A= (n.7699-1232A=)
c.5746A= (p.Ile1916=)
c.5296A= (p.Ile1766=)
c.4504A= (p.Ile1502=)
c.7666A= (p.Ile2556=)

Number of alleles fetched