Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.244053816C>ACA345671993ZBTB18c.15C>A (p.Asp5Glu)
c.143C>A (p.Thr48Asn)
c.42C>A (p.Asp14Glu)
1g.244053816C=CA1230659571ZBTB18c.15C= (p.Asp5=)
c.143C= (p.Thr48=)
c.42C= (p.Asp14=)
1g.244053816C>GCA345671994ZBTB18c.15C>G (p.Asp5Glu)
c.143C>G (p.Thr48Ser)
c.42C>G (p.Asp14Glu)
1g.244053816C>TCA424360587ZBTB18c.15C>T (p.Asp5=)
c.143C>T (p.Thr48Ile)
c.42C>T (p.Asp14=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244053817C>ACA345671995ZBTB18c.16C>A (p.His6Asn)
c.144C>A (p.Thr48=)
c.43C>A (p.His15Asn)
1g.244053817C>GCA345671996ZBTB18c.16C>G (p.His6Asp)
c.144C>G (p.Thr48=)
c.43C>G (p.His15Asp)
1g.244053817C>TCA345671997ZBTB18c.16C>T (p.His6Tyr)
c.144C>T (p.Thr48=)
c.43C>T (p.His15Tyr)
1g.244053818A>CCA345671998ZBTB18c.17A>C (p.His6Pro)
c.145A>C (p.Ile49Leu)
c.44A>C (p.His15Pro)
1g.244053818A>GCA345671999ZBTB18c.17A>G (p.His6Arg)
c.145A>G (p.Ile49Val)
c.44A>G (p.His15Arg)
1g.244053818A>TCA345672000ZBTB18c.17A>T (p.His6Leu)
c.145A>T (p.Ile49Leu)
c.44A>T (p.His15Leu)
1g.244053819T>ACA345672001ZBTB18c.18T>A (p.His6Gln)
c.146T>A (p.Ile49Lys)
c.45T>A (p.His15Gln)
1g.244053819T>CCA424360588ZBTB18c.18T>C (p.His6=)
c.146T>C (p.Ile49Thr)
c.45T>C (p.His15=)
1g.244053819T>GCA345672002ZBTB18c.18T>G (p.His6Gln)
c.146T>G (p.Ile49Arg)
c.45T>G (p.His15Gln)
1g.244053820A>CCA345672005ZBTB18c.19A>C (p.Ser7Arg)
c.147A>C (p.Ile49=)
c.46A>C (p.Ser16Arg)
1g.244053820A>GCA345672003ZBTB18c.19A>G (p.Ser7Gly)
c.147A>G (p.Ile49Met)
c.46A>G (p.Ser16Gly)
1g.244053820A>TCA345672004ZBTB18c.19A>T (p.Ser7Cys)
c.147A>T (p.Ile49=)
c.46A>T (p.Ser16Cys)
1g.244053821G>ACA345672006ZBTB18c.20G>A (p.Ser7Asn)
c.148G>A (p.Val50Ile)
c.47G>A (p.Ser16Asn)
1g.244053821G>CCA345672008ZBTB18c.20G>C (p.Ser7Thr)
c.148G>C (p.Val50Leu)
c.47G>C (p.Ser16Thr)
1g.244053821G>TCA345672007ZBTB18c.20G>T (p.Ser7Ile)
c.148G>T (p.Val50Leu)
c.47G>T (p.Ser16Ile)
1g.244053822T>ACA345672009ZBTB18c.21T>A (p.Ser7Arg)
c.149T>A (p.Val50Glu)
c.48T>A (p.Ser16Arg)
1g.244053822T>CCA1484258ZBTB18c.21T>C (p.Ser7=)
c.149T>C (p.Val50Ala)
c.48T>C (p.Ser16=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244053822T>GCA345672010ZBTB18c.21T>G (p.Ser7Arg)
c.149T>G (p.Val50Gly)
c.48T>G (p.Ser16Arg)
1g.244053822T=CA1143326922ZBTB18c.21T= (p.Ser7=)
c.149T= (p.Val50=)
c.48T= (p.Ser16=)
1g.244053823A>CCA424360589ZBTB18c.22A>C (p.Arg8=)
c.150A>C (p.Val50=)
c.49A>C (p.Arg17=)
1g.244053823A>GCA345672011ZBTB18c.22A>G (p.Arg8Gly)
c.150A>G (p.Val50=)
c.49A>G (p.Arg17Gly)
1g.244053823A>TCA345672012ZBTB18c.22A>T (p.Arg8Ter)
c.150A>T (p.Val50=)
c.49A>T (p.Arg17Ter)
1g.244053824G>ACA345672013ZBTB18c.23G>A (p.Arg8Lys)
c.151G>A (p.Asp51Asn)
c.50G>A (p.Arg17Lys)
 gnomAD v4
1g.244053824G>CCA345672014ZBTB18c.23G>C (p.Arg8Thr)
c.151G>C (p.Asp51His)
c.50G>C (p.Arg17Thr)
1g.244053824G>TCA345672015ZBTB18c.23G>T (p.Arg8Ile)
c.151G>T (p.Asp51Tyr)
c.50G>T (p.Arg17Ile)
1g.244053825A>CCA345672016ZBTB18c.24A>C (p.Arg8Ser)
c.152A>C (p.Asp51Ala)
c.51A>C (p.Arg17Ser)
1g.244053825A>GCA424360590ZBTB18c.24A>G (p.Arg8=)
c.152A>G (p.Asp51Gly)
c.51A>G (p.Arg17=)
1g.244053825A>TCA345672017ZBTB18c.24A>T (p.Arg8Ser)
c.152A>T (p.Asp51Val)
c.51A>T (p.Arg17Ser)
1g.244053826C>ACA345672018ZBTB18c.25C>A (p.His9Asn)
c.153C>A (p.Asp51Glu)
c.52C>A (p.His18Asn)
1g.244053826C>GCA345672019ZBTB18c.25C>G (p.His9Asp)
c.153C>G (p.Asp51Glu)
c.52C>G (p.His18Asp)
1g.244053826C>TCA345672020ZBTB18c.25C>T (p.His9Tyr)
c.153C>T (p.Asp51=)
c.52C>T (p.His18Tyr)
 gnomAD v4
1g.244053827A>CCA345672021ZBTB18c.26A>C (p.His9Pro)
c.154A>C (p.Ile52Leu)
c.53A>C (p.His18Pro)
1g.244053827A>GCA345672023ZBTB18c.26A>G (p.His9Arg)
c.154A>G (p.Ile52Val)
c.53A>G (p.His18Arg)
1g.244053827A>TCA345672022ZBTB18c.26A>T (p.His9Leu)
c.154A>T (p.Ile52Phe)
c.53A>T (p.His18Leu)
1g.244053828T>ACA345672024ZBTB18c.27T>A (p.His9Gln)
c.155T>A (p.Ile52Asn)
c.54T>A (p.His18Gln)
1g.244053828T>CCA424360591ZBTB18c.27T>C (p.His9=)
c.155T>C (p.Ile52Thr)
c.54T>C (p.His18=)
1g.244053828T>GCA345672025ZBTB18c.27T>G (p.His9Gln)
c.155T>G (p.Ile52Ser)
c.54T>G (p.His18Gln)
1g.244053829T>ACA345672026ZBTB18c.28T>A (p.Leu10Met)
c.156T>A (p.Ile52=)
c.55T>A (p.Leu19Met)
1g.244053829T>CCA1484259ZBTB18c.28T>C (p.Leu10=)
c.156T>C (p.Ile52=)
c.55T>C (p.Leu19=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244053829T>GCA345672027ZBTB18c.28T>G (p.Leu10Val)
c.156T>G (p.Ile52Met)
c.55T>G (p.Leu19Val)
1g.244053829T=CA1230659572ZBTB18c.28T= (p.Leu10=)
c.156T= (p.Ile52=)
c.55T= (p.Leu19=)
1g.244053830T>ACA345672028ZBTB18c.29T>A (p.Leu10Ter)
c.157T>A (p.Cys53Ser)
c.56T>A (p.Leu19Ter)
1g.244053830T>CCA345672029ZBTB18c.29T>C (p.Leu10Ser)
c.157T>C (p.Cys53Arg)
c.56T>C (p.Leu19Ser)
1g.244053830T>GCA345672030ZBTB18c.29T>G (p.Leu10Trp)
c.157T>G (p.Cys53Gly)
c.56T>G (p.Leu19Trp)
1g.244053831G>ACA424360592ZBTB18c.30G>A (p.Leu10=)
c.158G>A (p.Cys53Tyr)
c.57G>A (p.Leu19=)
1g.244053831G>CCA345672031ZBTB18c.30G>C (p.Leu10Phe)
c.158G>C (p.Cys53Ser)
c.57G>C (p.Leu19Phe)
1g.244053831G>TCA345672032ZBTB18c.30G>T (p.Leu10Phe)
c.158G>T (p.Cys53Phe)
c.57G>T (p.Leu19Phe)
1g.244053832C>ACA345672034ZBTB18c.31C>A (p.Leu11Ile)
c.159C>A (p.Cys53Ter)
c.58C>A (p.Leu20Ile)
1g.244053832C>GCA345672033ZBTB18c.31C>G (p.Leu11Val)
c.159C>G (p.Cys53Trp)
c.58C>G (p.Leu20Val)
1g.244053832C>TCA424360593ZBTB18c.31C>T (p.Leu11=)
c.159C>T (p.Cys53=)
c.58C>T (p.Leu20=)
1g.244053833T>ACA345672035ZBTB18c.32T>A (p.Leu11Gln)
c.160T>A (p.Tyr54Asn)
c.59T>A (p.Leu20Gln)
1g.244053833T>CCA345672036ZBTB18c.32T>C (p.Leu11Pro)
c.160T>C (p.Tyr54His)
c.59T>C (p.Leu20Pro)
1g.244053833T>GCA345672037ZBTB18c.32T>G (p.Leu11Arg)
c.160T>G (p.Tyr54Asp)
c.59T>G (p.Leu20Arg)
1g.244053834A=CA1230659573ZBTB18c.33A= (p.Leu11=)
c.161A= (p.Tyr54=)
c.60A= (p.Leu20=)
1g.244053834A>CCA424360594ZBTB18c.33A>C (p.Leu11=)
c.161A>C (p.Tyr54Ser)
c.60A>C (p.Leu20=)
1g.244053834A>GCA1484260ZBTB18c.33A>G (p.Leu11=)
c.161A>G (p.Tyr54Cys)
c.60A>G (p.Leu20=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244053834A>TCA424360595ZBTB18c.33A>T (p.Leu11=)
c.161A>T (p.Tyr54Phe)
c.60A>T (p.Leu20=)
1g.244053835C>ACA345672038ZBTB18c.34C>A (p.Gln12Lys)
c.162C>A (p.Tyr54Ter)
c.61C>A (p.Gln21Lys)
1g.244053835C>GCA345672039ZBTB18c.34C>G (p.Gln12Glu)
c.162C>G (p.Tyr54Ter)
c.61C>G (p.Gln21Glu)
1g.244053835C>TCA345672040ZBTB18c.34C>T (p.Gln12Ter)
c.162C>T (p.Tyr54=)
c.61C>T (p.Gln21Ter)
1g.244053836A>CCA345672043ZBTB18c.35A>C (p.Gln12Pro)
c.163A>C (p.Ser55Arg)
c.62A>C (p.Gln21Pro)
1g.244053836A>GCA345672041ZBTB18c.35A>G (p.Gln12Arg)
c.163A>G (p.Ser55Gly)
c.62A>G (p.Gln21Arg)
 gnomAD v4
1g.244053836A>TCA345672042ZBTB18c.35A>T (p.Gln12Leu)
c.163A>T (p.Ser55Cys)
c.62A>T (p.Gln21Leu)
1g.244053837G>ACA424360596ZBTB18c.36G>A (p.Gln12=)
c.164G>A (p.Ser55Asn)
c.63G>A (p.Gln21=)
1g.244053837G>CCA345672044ZBTB18c.36G>C (p.Gln12His)
c.164G>C (p.Ser55Thr)
c.63G>C (p.Gln21His)
1g.244053837G>TCA345672045ZBTB18c.36G>T (p.Gln12His)
c.164G>T (p.Ser55Ile)
c.63G>T (p.Gln21His)
1g.244053838T>ACA345672046ZBTB18c.37T>A (p.Cys13Ser)
c.165T>A (p.Ser55Arg)
c.64T>A (p.Cys22Ser)
1g.244053838T>CCA1484261ZBTB18c.37T>C (p.Cys13Arg)
c.165T>C (p.Ser55=)
c.64T>C (p.Cys22Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244053838T>GCA345672047ZBTB18c.37T>G (p.Cys13Gly)
c.165T>G (p.Ser55Arg)
c.64T>G (p.Cys22Gly)
1g.244053838T=CA1230659574ZBTB18c.37T= (p.Cys13=)
c.165T= (p.Ser55=)
c.64T= (p.Cys22=)
1g.244053839G>ACA345672048ZBTB18c.38G>A (p.Cys13Tyr)
c.166G>A (p.Val56Ile)
c.65G>A (p.Cys22Tyr)
 ClinVar
1g.244053839G>CCA345672050ZBTB18c.38G>C (p.Cys13Ser)
c.166G>C (p.Val56Leu)
c.65G>C (p.Cys22Ser)
1g.244053839G>TCA345672049ZBTB18c.38G>T (p.Cys13Phe)
c.166G>T (p.Val56Phe)
c.65G>T (p.Cys22Phe)
1g.244053840T>ACA345672051ZBTB18c.39T>A (p.Cys13Ter)
c.167T>A (p.Val56Asp)
c.66T>A (p.Cys22Ter)
1g.244053840T>CCA424360597ZBTB18c.39T>C (p.Cys13=)
c.167T>C (p.Val56Ala)
c.66T>C (p.Cys22=)
1g.244053840T>GCA345672052ZBTB18c.39T>G (p.Cys13Trp)
c.167T>G (p.Val56Gly)
c.66T>G (p.Cys22Trp)
1g.244053841C>ACA345672053ZBTB18c.40C>A (p.Leu14Met)
c.168C>A (p.Val56=)
c.67C>A (p.Leu23Met)
1g.244053841C=CA1148299491ZBTB18c.40C= (p.Leu14=)
c.168C= (p.Val56=)
c.67C= (p.Leu23=)
1g.244053841C>GCA345672054ZBTB18c.40C>G (p.Leu14Val)
c.168C>G (p.Val56=)
c.67C>G (p.Leu23Val)
1g.244053841C>TCA1484262ZBTB18c.40C>T (p.Leu14=)
c.168C>T (p.Val56=)
c.67C>T (p.Leu23=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244053842T>ACA345672055ZBTB18c.41T>A (p.Leu14Gln)
c.169T>A (p.Ter57Arg)
c.68T>A (p.Leu23Gln)
1g.244053842T>CCA345672056ZBTB18c.41T>C (p.Leu14Pro)
c.169T>C (p.Ter57Arg)
c.68T>C (p.Leu23Pro)
1g.244053842T>GCA345672057ZBTB18c.41T>G (p.Leu14Arg)
c.169T>G (p.Ter57Gly)
c.68T>G (p.Leu23Arg)
1g.244053843G>ACA424360598ZBTB18c.42G>A (p.Leu14=)
c.170G>A (p.Ter57=)
c.69G>A (p.Leu23=)
1g.244053843G>CCA424360599ZBTB18c.42G>C (p.Leu14=)
c.170G>C (p.Ter57Ser)
c.69G>C (p.Leu23=)
1g.244053843G>TCA424360600ZBTB18c.42G>T (p.Leu14=)
c.170G>T (p.Ter57Leu)
c.69G>T (p.Leu23=)
1g.244053844A>CCA345672058ZBTB18c.43A>C (p.Ser15Arg)
c.171A>C (p.Ter57Cys)
c.70A>C (p.Ser24Arg)
1g.244053844A>GCA345672059ZBTB18c.43A>G (p.Ser15Gly)
c.171A>G (p.Ter57Trp)
c.70A>G (p.Ser24Gly)
1g.244053844A>TCA345672060ZBTB18c.43A>T (p.Ser15Cys)
c.171A>T (p.Ter57Cys)
c.70A>T (p.Ser24Cys)
1g.244053845G>ACA345672061ZBTB18c.44G>A (p.Ser15Asn)
c.*1G>A (n.*1G>A)
c.71G>A (p.Ser24Asn)
1g.244053845G>CCA345672063ZBTB18c.44G>C (p.Ser15Thr)
c.*1G>C (n.*1G>C)
c.71G>C (p.Ser24Thr)
1g.244053845G>TCA345672062ZBTB18c.44G>T (p.Ser15Ile)
c.*1G>T (n.*1G>T)
c.71G>T (p.Ser24Ile)
1g.244053846C>ACA345672064ZBTB18c.45C>A (p.Ser15Arg)
c.*2C>A (n.*2C>A)
c.72C>A (p.Ser24Arg)
1g.244053846C=CA1230659575ZBTB18c.45C= (p.Ser15=)
c.*2C= (n.*2C=)
c.72C= (p.Ser24=)
1g.244053846C>GCA345672065ZBTB18c.45C>G (p.Ser15Arg)
c.*2C>G (n.*2C>G)
c.72C>G (p.Ser24Arg)
 gnomAD v4
1g.244053846C>TCA1484263ZBTB18c.45C>T (p.Ser15=)
c.*2C>T (n.*2C>T)
c.72C>T (p.Ser24=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244053847G>ACA345672066ZBTB18c.46G>A (p.Glu16Lys)
c.*3G>A (n.*3G>A)
c.73G>A (p.Glu25Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.244053847G>CCA345672067ZBTB18c.46G>C (p.Glu16Gln)
c.*3G>C (n.*3G>C)
c.73G>C (p.Glu25Gln)
1g.244053847G=CA1230659576ZBTB18c.46G= (p.Glu16=)
c.*3G= (n.*3G=)
c.73G= (p.Glu25=)
1g.244053847G>TCA345672068ZBTB18c.46G>T (p.Glu16Ter)
c.*3G>T (n.*3G>T)
c.73G>T (p.Glu25Ter)
1g.244053848A>CCA345672071ZBTB18c.47A>C (p.Glu16Ala)
c.*4A>C (n.*4A>C)
c.74A>C (p.Glu25Ala)
1g.244053848A>GCA345672069ZBTB18c.47A>G (p.Glu16Gly)
c.*4A>G (n.*4A>G)
c.74A>G (p.Glu25Gly)
1g.244053848A>TCA345672070ZBTB18c.47A>T (p.Glu16Val)
c.*4A>T (n.*4A>T)
c.74A>T (p.Glu25Val)
1g.244053849G>ACA424360601ZBTB18c.48G>A (p.Glu16=)
c.*5G>A (n.*5G>A)
c.75G>A (p.Glu25=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.244053849G>CCA345672072ZBTB18c.48G>C (p.Glu16Asp)
c.*5G>C (n.*5G>C)
c.75G>C (p.Glu25Asp)
1g.244053849G=CA1230659577ZBTB18c.48G= (p.Glu16=)
c.*5G= (n.*5G=)
c.75G= (p.Glu25=)
1g.244053849G>TCA345672073ZBTB18c.48G>T (p.Glu16Asp)
c.*5G>T (n.*5G>T)
c.75G>T (p.Glu25Asp)
1g.244053850C>ACA345672074ZBTB18c.49C>A (p.Gln17Lys)
c.*6C>A (n.*6C>A)
c.76C>A (p.Gln26Lys)
1g.244053850C>GCA345672075ZBTB18c.49C>G (p.Gln17Glu)
c.*6C>G (n.*6C>G)
c.76C>G (p.Gln26Glu)
1g.244053850C>TCA345672076ZBTB18c.49C>T (p.Gln17Ter)
c.*6C>T (n.*6C>T)
c.76C>T (p.Gln26Ter)
1g.244053851A>CCA345672079ZBTB18c.50A>C (p.Gln17Pro)
c.*7A>C (n.*7A>C)
c.77A>C (p.Gln26Pro)
1g.244053851A>GCA345672077ZBTB18c.50A>G (p.Gln17Arg)
c.*7A>G (n.*7A>G)
c.77A>G (p.Gln26Arg)
1g.244053851A>TCA345672078ZBTB18c.50A>T (p.Gln17Leu)
c.*7A>T (n.*7A>T)
c.77A>T (p.Gln26Leu)
1g.244053852G>ACA424360602ZBTB18c.51G>A (p.Gln17=)
c.*8G>A (n.*8G>A)
c.78G>A (p.Gln26=)
1g.244053852G>CCA345672080ZBTB18c.51G>C (p.Gln17His)
c.*8G>C (n.*8G>C)
c.78G>C (p.Gln26His)
1g.244053852G>TCA345672081ZBTB18c.51G>T (p.Gln17His)
c.*8G>T (n.*8G>T)
c.78G>T (p.Gln26His)
1g.244053853A>CCA424360603ZBTB18c.52A>C (p.Arg18=)
c.*9A>C (n.*9A>C)
c.79A>C (p.Arg27=)
1g.244053853A>GCA345672082ZBTB18c.52A>G (p.Arg18Gly)
c.*9A>G (n.*9A>G)
c.79A>G (p.Arg27Gly)
1g.244053853A>TCA345672083ZBTB18c.52A>T (p.Arg18Ter)
c.*9A>T (n.*9A>T)
c.79A>T (p.Arg27Ter)
1g.244053854G>ACA345672084ZBTB18c.53G>A (p.Arg18Lys)
c.*10G>A (n.*10G>A)
c.80G>A (p.Arg27Lys)
1g.244053854G>CCA345672085ZBTB18c.53G>C (p.Arg18Thr)
c.*10G>C (n.*10G>C)
c.80G>C (p.Arg27Thr)
 ClinVar
1g.244053854G>TCA345672086ZBTB18c.53G>T (p.Arg18Ile)
c.*10G>T (n.*10G>T)
c.80G>T (p.Arg27Ile)
1g.244053855A=CA1230659578ZBTB18c.54A= (p.Arg18=)
c.*11A= (n.*11A=)
c.81A= (p.Arg27=)
1g.244053855A>CCA345672087ZBTB18c.54A>C (p.Arg18Ser)
c.*11A>C (n.*11A>C)
c.81A>C (p.Arg27Ser)
1g.244053855A>GCA1484264ZBTB18c.54A>G (p.Arg18=)
c.*11A>G (n.*11A>G)
c.81A>G (p.Arg27=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244053855A>TCA345672088ZBTB18c.54A>T (p.Arg18Ser)
c.*11A>T (n.*11A>T)
c.81A>T (p.Arg27Ser)
1g.244053856C>ACA345672089ZBTB18c.55C>A (p.His19Asn)
c.*12C>A (n.*12C>A)
c.82C>A (p.His28Asn)
1g.244053856C>GCA345672090ZBTB18c.55C>G (p.His19Asp)
c.*12C>G (n.*12C>G)
c.82C>G (p.His28Asp)
1g.244053856C>TCA345672091ZBTB18c.55C>T (p.His19Tyr)
c.*12C>T (n.*12C>T)
c.82C>T (p.His28Tyr)
1g.244053857A>CCA345672094ZBTB18c.56A>C (p.His19Pro)
c.*13A>C (n.*13A>C)
c.83A>C (p.His28Pro)
1g.244053857A>GCA345672092ZBTB18c.56A>G (p.His19Arg)
c.*13A>G (n.*13A>G)
c.83A>G (p.His28Arg)
1g.244053857A>TCA345672093ZBTB18c.56A>T (p.His19Leu)
c.*13A>T (n.*13A>T)
c.83A>T (p.His28Leu)
1g.244053858C>ACA345672095ZBTB18c.57C>A (p.His19Gln)
c.*14C>A (n.*14C>A)
c.84C>A (p.His28Gln)
1g.244053858C>GCA345672096ZBTB18c.57C>G (p.His19Gln)
c.*14C>G (n.*14C>G)
c.84C>G (p.His28Gln)
1g.244053858C>TCA424360604ZBTB18c.57C>T (p.His19=)
c.*14C>T (n.*14C>T)
c.84C>T (p.His28=)
 gnomAD v4
1g.244053859C>ACA1484265ZBTB18c.58C>A (p.Gln20Lys)
c.*15C>A (n.*15C>A)
c.85C>A (p.Gln29Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244053859C=CA1143385088ZBTB18c.58C= (p.Gln20=)
c.*15C= (n.*15C=)
c.85C= (p.Gln29=)
1g.244053859C>GCA345672097ZBTB18c.58C>G (p.Gln20Glu)
c.*15C>G (n.*15C>G)
c.85C>G (p.Gln29Glu)
1g.244053859C>TCA345672098ZBTB18c.58C>T (p.Gln20Ter)
c.*15C>T (n.*15C>T)
c.85C>T (p.Gln29Ter)
1g.244053860A>CCA345672099ZBTB18c.59A>C (p.Gln20Pro)
c.*16A>C (n.*16A>C)
c.86A>C (p.Gln29Pro)
1g.244053860A>GCA345672100ZBTB18c.59A>G (p.Gln20Arg)
c.*16A>G (n.*16A>G)
c.86A>G (p.Gln29Arg)
1g.244053860A>TCA345672101ZBTB18c.59A>T (p.Gln20Leu)
c.*16A>T (n.*16A>T)
c.86A>T (p.Gln29Leu)
1g.244053861G>ACA424360605ZBTB18c.60G>A (p.Gln20=)
c.*17G>A (n.*17G>A)
c.87G>A (p.Gln29=)
1g.244053861G>CCA345672102ZBTB18c.60G>C (p.Gln20His)
c.*17G>C (n.*17G>C)
c.87G>C (p.Gln29His)
 gnomAD v4
1g.244053861G>TCA345672103ZBTB18c.60G>T (p.Gln20His)
c.*17G>T (n.*17G>T)
c.87G>T (p.Gln29His)
1g.244053862G>ACA345672104ZBTB18c.61G>A (p.Gly21Ser)
c.*18G>A (n.*18G>A)
c.88G>A (p.Gly30Ser)
1g.244053862G>CCA345672105ZBTB18c.61G>C (p.Gly21Arg)
c.*18G>C (n.*18G>C)
c.88G>C (p.Gly30Arg)
1g.244053862G>TCA345672106ZBTB18c.61G>T (p.Gly21Cys)
c.*18G>T (n.*18G>T)
c.88G>T (p.Gly30Cys)
1g.244053863G>ACA345672109ZBTB18c.62G>A (p.Gly21Asp)
c.*19G>A (n.*19G>A)
c.89G>A (p.Gly30Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.244053863G>CCA345672107ZBTB18c.62G>C (p.Gly21Ala)
c.*19G>C (n.*19G>C)
c.89G>C (p.Gly30Ala)
1g.244053863G=CA1230659579ZBTB18c.62G= (p.Gly21=)
c.*19G= (n.*19G=)
c.89G= (p.Gly30=)
1g.244053863G>TCA345672108ZBTB18c.62G>T (p.Gly21Val)
c.*19G>T (n.*19G>T)
c.89G>T (p.Gly30Val)
1g.244053864T>ACA424360606ZBTB18c.63T>A (p.Gly21=)
c.*20T>A (n.*20T>A)
c.90T>A (p.Gly30=)
1g.244053864T>CCA424360607ZBTB18c.63T>C (p.Gly21=)
c.*20T>C (n.*20T>C)
c.90T>C (p.Gly30=)
1g.244053864T>GCA1484266ZBTB18c.63T>G (p.Gly21=)
c.*20T>G (n.*20T>G)
c.90T>G (p.Gly30=)
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.244053864T=CA1230659580ZBTB18c.63T= (p.Gly21=)
c.*20T= (n.*20T=)
c.90T= (p.Gly30=)
1g.244053867_244053871delCA645516223ZBTB18c.66_70del (p.Phe22LeufsTer2)
c.*23_*27del (n.*23_*27del)
c.93_97del (p.Phe31LeufsTer2)
 COSMIC
1g.244053865T>ACA345672110ZBTB18c.64T>A (p.Phe22Ile)
c.*21T>A (n.*21T>A)
c.91T>A (p.Phe31Ile)
1g.244053865T>CCA345672111ZBTB18c.64T>C (p.Phe22Leu)
c.*21T>C (n.*21T>C)
c.91T>C (p.Phe31Leu)
1g.244053865T>GCA345672112ZBTB18c.64T>G (p.Phe22Val)
c.*21T>G (n.*21T>G)
c.91T>G (p.Phe31Val)
1g.244053866T>ACA345672113ZBTB18c.65T>A (p.Phe22Tyr)
c.*22T>A (n.*22T>A)
c.92T>A (p.Phe31Tyr)
1g.244053866T>CCA345672114ZBTB18c.65T>C (p.Phe22Ser)
c.*22T>C (n.*22T>C)
c.92T>C (p.Phe31Ser)
1g.244053866T>GCA345672115ZBTB18c.65T>G (p.Phe22Cys)
c.*22T>G (n.*22T>G)
c.92T>G (p.Phe31Cys)
1g.244053867T>ACA345672116ZBTB18c.66T>A (p.Phe22Leu)
c.*23T>A (n.*23T>A)
c.93T>A (p.Phe31Leu)
1g.244053867T>CCA424360608ZBTB18c.66T>C (p.Phe22=)
c.*23T>C (n.*23T>C)
c.93T>C (p.Phe31=)
1g.244053867T>GCA345672117ZBTB18c.66T>G (p.Phe22Leu)
c.*23T>G (n.*23T>G)
c.93T>G (p.Phe31Leu)
1g.244053868C>ACA345672118ZBTB18c.67C>A (p.Leu23Ile)
c.*24C>A (n.*24C>A)
c.94C>A (p.Leu32Ile)
1g.244053868C>GCA345672119ZBTB18c.67C>G (p.Leu23Val)
c.*24C>G (n.*24C>G)
c.94C>G (p.Leu32Val)
1g.244053868C>TCA345672120ZBTB18c.67C>T (p.Leu23Phe)
c.*24C>T (n.*24C>T)
c.94C>T (p.Leu32Phe)
1g.244053869T>ACA345672121ZBTB18c.68T>A (p.Leu23His)
c.*25T>A (n.*25T>A)
c.95T>A (p.Leu32His)
1g.244053869T>CCA345672123ZBTB18c.68T>C (p.Leu23Pro)
c.*25T>C (n.*25T>C)
c.95T>C (p.Leu32Pro)
1g.244053869T>GCA345672122ZBTB18c.68T>G (p.Leu23Arg)
c.*25T>G (n.*25T>G)
c.95T>G (p.Leu32Arg)
1g.244053870T>ACA424360609ZBTB18c.69T>A (p.Leu23=)
c.*26T>A (n.*26T>A)
c.96T>A (p.Leu32=)
1g.244053870T>CCA424360610ZBTB18c.69T>C (p.Leu23=)
c.*26T>C (n.*26T>C)
c.96T>C (p.Leu32=)
1g.244053870T>GCA424360611ZBTB18c.69T>G (p.Leu23=)
c.*26T>G (n.*26T>G)
c.96T>G (p.Leu32=)
1g.244053871T>ACA345672124ZBTB18c.70T>A (p.Cys24Ser)
c.*27T>A (n.*27T>A)
c.97T>A (p.Cys33Ser)
1g.244053871T>CCA345672126ZBTB18c.70T>C (p.Cys24Arg)
c.*27T>C (n.*27T>C)
c.97T>C (p.Cys33Arg)
1g.244053871T>GCA345672125ZBTB18c.70T>G (p.Cys24Gly)
c.*27T>G (n.*27T>G)
c.97T>G (p.Cys33Gly)
1g.244053872G>ACA345672127ZBTB18c.71G>A (p.Cys24Tyr)
c.*28G>A (n.*28G>A)
c.98G>A (p.Cys33Tyr)
1g.244053872G>CCA345672128ZBTB18c.71G>C (p.Cys24Ser)
c.*28G>C (n.*28G>C)
c.98G>C (p.Cys33Ser)
1g.244053872G>TCA345672129ZBTB18c.71G>T (p.Cys24Phe)
c.*28G>T (n.*28G>T)
c.98G>T (p.Cys33Phe)
1g.244053873T>ACA345672130ZBTB18c.72T>A (p.Cys24Ter)
c.*29T>A (n.*29T>A)
c.99T>A (p.Cys33Ter)
1g.244053873T>CCA424360612ZBTB18c.72T>C (p.Cys24=)
c.*29T>C (n.*29T>C)
c.99T>C (p.Cys33=)
 gnomAD v4
1g.244053873T>GCA345672131ZBTB18c.72T>G (p.Cys24Trp)
c.*29T>G (n.*29T>G)
c.99T>G (p.Cys33Trp)
1g.244053874G>ACA345672132ZBTB18c.73G>A (p.Asp25Asn)
c.*30G>A (n.*30G>A)
c.100G>A (p.Asp34Asn)
1g.244053874G>CCA345672133ZBTB18c.73G>C (p.Asp25His)
c.*30G>C (n.*30G>C)
c.100G>C (p.Asp34His)
1g.244053874G>TCA345672134ZBTB18c.73G>T (p.Asp25Tyr)
c.*30G>T (n.*30G>T)
c.100G>T (p.Asp34Tyr)
1g.244053875A=CA1230659581ZBTB18c.74A= (p.Asp25=)
c.*31A= (n.*31A=)
c.101A= (p.Asp34=)
1g.244053875A>CCA345672135ZBTB18c.74A>C (p.Asp25Ala)
c.*31A>C (n.*31A>C)
c.101A>C (p.Asp34Ala)
 dbSNP
1g.244053875A>GCA345672136ZBTB18c.74A>G (p.Asp25Gly)
c.*31A>G (n.*31A>G)
c.101A>G (p.Asp34Gly)
1g.244053875A>TCA345672137ZBTB18c.74A>T (p.Asp25Val)
c.*31A>T (n.*31A>T)
c.101A>T (p.Asp34Val)
1g.244053876C>ACA345672139ZBTB18c.75C>A (p.Asp25Glu)
c.*32C>A (n.*32C>A)
c.102C>A (p.Asp34Glu)
1g.244053876C>GCA345672138ZBTB18c.75C>G (p.Asp25Glu)
c.*32C>G (n.*32C>G)
c.102C>G (p.Asp34Glu)
 ClinVar
1g.244053876C>TCA424360613ZBTB18c.75C>T (p.Asp25=)
c.*32C>T (n.*32C>T)
c.102C>T (p.Asp34=)
1g.244053877T>ACA345672140ZBTB18c.76T>A (p.Cys26Ser)
c.*33T>A (n.*33T>A)
c.103T>A (p.Cys35Ser)
1g.244053877T>CCA345672141ZBTB18c.76T>C (p.Cys26Arg)
c.*33T>C (n.*33T>C)
c.103T>C (p.Cys35Arg)
1g.244053877T>GCA345672142ZBTB18c.76T>G (p.Cys26Gly)
c.*33T>G (n.*33T>G)
c.103T>G (p.Cys35Gly)
1g.244053878G>ACA345672143ZBTB18c.77G>A (p.Cys26Tyr)
c.*34G>A (n.*34G>A)
c.104G>A (p.Cys35Tyr)
 ClinVar
1g.244053878G>CCA345672144ZBTB18c.77G>C (p.Cys26Ser)
c.*34G>C (n.*34G>C)
c.104G>C (p.Cys35Ser)
1g.244053878G>TCA345672145ZBTB18c.77G>T (p.Cys26Phe)
c.*34G>T (n.*34G>T)
c.104G>T (p.Cys35Phe)
1g.244053879C>ACA345672146ZBTB18c.78C>A (p.Cys26Ter)
c.*35C>A (n.*35C>A)
c.105C>A (p.Cys35Ter)
1g.244053879C>GCA345672147ZBTB18c.78C>G (p.Cys26Trp)
c.*35C>G (n.*35C>G)
c.105C>G (p.Cys35Trp)
1g.244053879C>TCA424360614ZBTB18c.78C>T (p.Cys26=)
c.*35C>T (n.*35C>T)
c.105C>T (p.Cys35=)
 gnomAD v4
1g.244053880A>CCA345672148ZBTB18c.79A>C (p.Thr27Pro)
c.*36A>C (n.*36A>C)
c.106A>C (p.Thr36Pro)
1g.244053880A>GCA345672149ZBTB18c.79A>G (p.Thr27Ala)
c.*36A>G (n.*36A>G)
c.106A>G (p.Thr36Ala)
1g.244053880A>TCA345672150ZBTB18c.79A>T (p.Thr27Ser)
c.*36A>T (n.*36A>T)
c.106A>T (p.Thr36Ser)
1g.244053881C>ACA345672152ZBTB18c.80C>A (p.Thr27Asn)
c.*37C>A (n.*37C>A)
c.107C>A (p.Thr36Asn)
1g.244053881C=CA1230659582ZBTB18c.80C= (p.Thr27=)
c.*37C= (n.*37C=)
c.107C= (p.Thr36=)
1g.244053881C>GCA345672153ZBTB18c.80C>G (p.Thr27Ser)
c.*37C>G (n.*37C>G)
c.107C>G (p.Thr36Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.244053881C>TCA345672151ZBTB18c.80C>T (p.Thr27Ile)
c.*37C>T (n.*37C>T)
c.107C>T (p.Thr36Ile)
 gnomAD v4
1g.244053882T>ACA424360617ZBTB18c.81T>A (p.Thr27=)
c.*38T>A (n.*38T>A)
c.108T>A (p.Thr36=)
1g.244053882T>CCA424360616ZBTB18c.81T>C (p.Thr27=)
c.*38T>C (n.*38T>C)
c.108T>C (p.Thr36=)
1g.244053882T>GCA424360615ZBTB18c.81T>G (p.Thr27=)
c.*38T>G (n.*38T>G)
c.108T>G (p.Thr36=)
 gnomAD v4
1g.244053883G>ACA345672154ZBTB18c.82G>A (p.Val28Ile)
c.*39G>A (n.*39G>A)
c.109G>A (p.Val37Ile)
1g.244053883G>CCA345672155ZBTB18c.82G>C (p.Val28Leu)
c.*39G>C (n.*39G>C)
c.109G>C (p.Val37Leu)
1g.244053883G>TCA345672156ZBTB18c.82G>T (p.Val28Phe)
c.*39G>T (n.*39G>T)
c.109G>T (p.Val37Phe)
1g.244053884T>ACA345672157ZBTB18c.83T>A (p.Val28Asp)
c.*40T>A (n.*40T>A)
c.110T>A (p.Val37Asp)
1g.244053884T>CCA345672158ZBTB18c.83T>C (p.Val28Ala)
c.*40T>C (n.*40T>C)
c.110T>C (p.Val37Ala)
1g.244053884T>GCA345672159ZBTB18c.83T>G (p.Val28Gly)
c.*40T>G (n.*40T>G)
c.110T>G (p.Val37Gly)
1g.244053885T>ACA424360618ZBTB18c.84T>A (p.Val28=)
c.*41T>A (n.*41T>A)
c.111T>A (p.Val37=)
1g.244053885T>CCA424360619ZBTB18c.84T>C (p.Val28=)
c.*41T>C (n.*41T>C)
c.111T>C (p.Val37=)
1g.244053885T>GCA1484267ZBTB18c.84T>G (p.Val28=)
c.*41T>G (n.*41T>G)
c.111T>G (p.Val37=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.244053885T=CA1230659583ZBTB18c.84T= (p.Val28=)
c.*41T= (n.*41T=)
c.111T= (p.Val37=)
1g.244053886C>ACA345672160ZBTB18c.85C>A (p.Leu29Met)
c.*42C>A (n.*42C>A)
c.112C>A (p.Leu38Met)
1g.244053886C=CA1143709348ZBTB18c.85C= (p.Leu29=)
c.*42C= (n.*42C=)
c.112C= (p.Leu38=)
1g.244053886C>GCA345672161ZBTB18c.85C>G (p.Leu29Val)
c.*42C>G (n.*42C>G)
c.112C>G (p.Leu38Val)
 dbSNP gnomAD v2 gnomAD v4
1g.244053886C>TCA41081496ZBTB18c.85C>T (p.Leu29=)
c.*42C>T (n.*42C>T)
c.112C>T (p.Leu38=)
 dbSNP gnomAD v2 gnomAD v4
1g.244053887T>ACA345672162ZBTB18c.86T>A (p.Leu29Gln)
c.*43T>A (n.*43T>A)
c.113T>A (p.Leu38Gln)
1g.244053887T>CCA345672163ZBTB18c.86T>C (p.Leu29Pro)
c.*43T>C (n.*43T>C)
c.113T>C (p.Leu38Pro)
1g.244053887T>GCA345672164ZBTB18c.86T>G (p.Leu29Arg)
c.*43T>G (n.*43T>G)
c.113T>G (p.Leu38Arg)
1g.244053888G>ACA424360620ZBTB18c.87G>A (p.Leu29=)
c.*44G>A (n.*44G>A)
c.114G>A (p.Leu38=)
1g.244053888G>CCA424360621ZBTB18c.87G>C (p.Leu29=)
c.*44G>C (n.*44G>C)
c.114G>C (p.Leu38=)
1g.244053888G>TCA424360622ZBTB18c.87G>T (p.Leu29=)
c.*44G>T (n.*44G>T)
c.114G>T (p.Leu38=)
1g.244053889G>ACA345672165ZBTB18c.88G>A (p.Val30Met)
c.*45G>A (n.*45G>A)
c.115G>A (p.Val39Met)
1g.244053889G>CCA345672167ZBTB18c.88G>C (p.Val30Leu)
c.*45G>C (n.*45G>C)
c.115G>C (p.Val39Leu)
1g.244053889G>TCA345672166ZBTB18c.88G>T (p.Val30Leu)
c.*45G>T (n.*45G>T)
c.115G>T (p.Val39Leu)
1g.244053890T>ACA345672168ZBTB18c.89T>A (p.Val30Glu)
c.*46T>A (n.*46T>A)
c.116T>A (p.Val39Glu)
1g.244053890T>CCA345672169ZBTB18c.89T>C (p.Val30Ala)
c.*46T>C (n.*46T>C)
c.116T>C (p.Val39Ala)
1g.244053890T>GCA345672170ZBTB18c.89T>G (p.Val30Gly)
c.*46T>G (n.*46T>G)
c.116T>G (p.Val39Gly)
1g.244053891G>ACA424360623ZBTB18c.90G>A (p.Val30=)
c.*47G>A (n.*47G>A)
c.117G>A (p.Val39=)
 dbSNP gnomAD v2 gnomAD v4
1g.244053891G>CCA424360624ZBTB18c.90G>C (p.Val30=)
c.*47G>C (n.*47G>C)
c.117G>C (p.Val39=)
1g.244053891G=CA1230659584ZBTB18c.90G= (p.Val30=)
c.*47G= (n.*47G=)
c.117G= (p.Val39=)
1g.244053891G>TCA424360625ZBTB18c.90G>T (p.Val30=)
c.*47G>T (n.*47G>T)
c.117G>T (p.Val39=)
 dbSNP gnomAD v2 gnomAD v4
1g.244053892G>ACA345672171ZBTB18c.91G>A (p.Gly31Arg)
c.*48G>A (n.*48G>A)
c.118G>A (p.Gly40Arg)
1g.244053892G>CCA345672172ZBTB18c.91G>C (p.Gly31Arg)
c.*48G>C (n.*48G>C)
c.118G>C (p.Gly40Arg)
1g.244053892G>TCA345672173ZBTB18c.91G>T (p.Gly31Ter)
c.*48G>T (n.*48G>T)
c.118G>T (p.Gly40Ter)
1g.244053893G>ACA345672174ZBTB18c.92G>A (p.Gly31Glu)
c.*49G>A (n.*49G>A)
c.119G>A (p.Gly40Glu)
1g.244053893G>CCA345672175ZBTB18c.92G>C (p.Gly31Ala)
c.*49G>C (n.*49G>C)
c.119G>C (p.Gly40Ala)
1g.244053893G>TCA345672176ZBTB18c.92G>T (p.Gly31Val)
c.*49G>T (n.*49G>T)
c.119G>T (p.Gly40Val)
1g.244053894A>CCA424360626ZBTB18c.93A>C (p.Gly31=)
c.*50A>C (n.*50A>C)
c.120A>C (p.Gly40=)
1g.244053894A>GCA424360627ZBTB18c.93A>G (p.Gly31=)
c.*50A>G (n.*50A>G)
c.120A>G (p.Gly40=)
1g.244053894A>TCA424360628ZBTB18c.93A>T (p.Gly31=)
c.*50A>T (n.*50A>T)
c.120A>T (p.Gly40=)
1g.244053895G>ACA345672177ZBTB18c.94G>A (p.Asp32Asn)
c.*51G>A (n.*51G>A)
c.121G>A (p.Asp41Asn)
 COSMIC
1g.244053895G>CCA345672178ZBTB18c.94G>C (p.Asp32His)
c.*51G>C (n.*51G>C)
c.121G>C (p.Asp41His)
1g.244053895G>TCA345672179ZBTB18c.94G>T (p.Asp32Tyr)
c.*51G>T (n.*51G>T)
c.121G>T (p.Asp41Tyr)
1g.244053896A>CCA345672181ZBTB18c.95A>C (p.Asp32Ala)
c.*52A>C (n.*52A>C)
c.122A>C (p.Asp41Ala)
1g.244053896A>GCA345672182ZBTB18c.95A>G (p.Asp32Gly)
c.*52A>G (n.*52A>G)
c.122A>G (p.Asp41Gly)
1g.244053896A>TCA345672180ZBTB18c.95A>T (p.Asp32Val)
c.*52A>T (n.*52A>T)
c.122A>T (p.Asp41Val)
1g.244053897T>ACA345672184ZBTB18c.96T>A (p.Asp32Glu)
c.*53T>A (n.*53T>A)
c.123T>A (p.Asp41Glu)
1g.244053897T>CCA424360629ZBTB18c.96T>C (p.Asp32=)
c.*53T>C (n.*53T>C)
c.123T>C (p.Asp41=)
1g.244053897T>GCA345672183ZBTB18c.96T>G (p.Asp32Glu)
c.*53T>G (n.*53T>G)
c.123T>G (p.Asp41Glu)
1g.244053898G>ACA345672187ZBTB18c.97G>A (p.Ala33Thr)
c.*54G>A (n.*54G>A)
c.124G>A (p.Ala42Thr)
1g.244053898G>CCA345672185ZBTB18c.97G>C (p.Ala33Pro)
c.*54G>C (n.*54G>C)
c.124G>C (p.Ala42Pro)
1g.244053898G>TCA345672186ZBTB18c.97G>T (p.Ala33Ser)
c.*54G>T (n.*54G>T)
c.124G>T (p.Ala42Ser)
1g.244053899C>ACA345672188ZBTB18c.98C>A (p.Ala33Asp)
c.*55C>A (n.*55C>A)
c.125C>A (p.Ala42Asp)
1g.244053899C>GCA345672189ZBTB18c.98C>G (p.Ala33Gly)
c.*55C>G (n.*55C>G)
c.125C>G (p.Ala42Gly)
1g.244053899C>TCA345672190ZBTB18c.98C>T (p.Ala33Val)
c.*55C>T (n.*55C>T)
c.125C>T (p.Ala42Val)
1g.244053900C>ACA424360631ZBTB18c.99C>A (p.Ala33=)
c.*56C>A (n.*56C>A)
c.126C>A (p.Ala42=)
1g.244053900C=CA1148882396ZBTB18c.99C= (p.Ala33=)
c.*56C= (n.*56C=)
c.126C= (p.Ala42=)
1g.244053900C>GCA424360630ZBTB18c.99C>G (p.Ala33=)
c.*56C>G (n.*56C>G)
c.126C>G (p.Ala42=)
1g.244053900C>TCA1484268ZBTB18c.99C>T (p.Ala33=)
c.*56C>T (n.*56C>T)
c.126C>T (p.Ala42=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244053901C>ACA345672193ZBTB18c.100C>A (p.Gln34Lys)
c.*57C>A (n.*57C>A)
c.127C>A (p.Gln43Lys)
1g.244053901C>GCA345672191ZBTB18c.100C>G (p.Gln34Glu)
c.*57C>G (n.*57C>G)
c.127C>G (p.Gln43Glu)
1g.244053901C>TCA345672192ZBTB18c.100C>T (p.Gln34Ter)
c.*57C>T (n.*57C>T)
c.127C>T (p.Gln43Ter)
1g.244053902A>CCA345672194ZBTB18c.101A>C (p.Gln34Pro)
c.*58A>C (n.*58A>C)
c.128A>C (p.Gln43Pro)
 gnomAD v4
1g.244053902A>GCA345672195ZBTB18c.101A>G (p.Gln34Arg)
c.*58A>G (n.*58A>G)
c.128A>G (p.Gln43Arg)
1g.244053902A>TCA345672196ZBTB18c.101A>T (p.Gln34Leu)
c.*58A>T (n.*58A>T)
c.128A>T (p.Gln43Leu)
1g.244053903G>ACA424360632ZBTB18c.102G>A (p.Gln34=)
c.*59G>A (n.*59G>A)
c.129G>A (p.Gln43=)
1g.244053903G>CCA345672197ZBTB18c.102G>C (p.Gln34His)
c.*59G>C (n.*59G>C)
c.129G>C (p.Gln43His)
1g.244053903G>TCA345672198ZBTB18c.102G>T (p.Gln34His)
c.*59G>T (n.*59G>T)
c.129G>T (p.Gln43His)
1g.244053904T>ACA345672201ZBTB18c.103T>A (p.Phe35Ile)
c.*60T>A (n.*60T>A)
c.130T>A (p.Phe44Ile)
1g.244053904T>CCA345672199ZBTB18c.103T>C (p.Phe35Leu)
c.*60T>C (n.*60T>C)
c.130T>C (p.Phe44Leu)
1g.244053904T>GCA345672200ZBTB18c.103T>G (p.Phe35Val)
c.*60T>G (n.*60T>G)
c.130T>G (p.Phe44Val)
1g.244053905T>ACA345672202ZBTB18c.104T>A (p.Phe35Tyr)
c.*61T>A (n.*61T>A)
c.131T>A (p.Phe44Tyr)
1g.244053905T>CCA345672203ZBTB18c.104T>C (p.Phe35Ser)
c.*61T>C (n.*61T>C)
c.131T>C (p.Phe44Ser)
1g.244053905T>GCA345672204ZBTB18c.104T>G (p.Phe35Cys)
c.*61T>G (n.*61T>G)
c.131T>G (p.Phe44Cys)
1g.244053906C>ACA345672205ZBTB18c.105C>A (p.Phe35Leu)
c.*62C>A (n.*62C>A)
c.132C>A (p.Phe44Leu)
1g.244053906C>GCA345672206ZBTB18c.105C>G (p.Phe35Leu)
c.*62C>G (n.*62C>G)
c.132C>G (p.Phe44Leu)
1g.244053906C>TCA424360633ZBTB18c.105C>T (p.Phe35=)
c.*62C>T (n.*62C>T)
c.132C>T (p.Phe44=)
 gnomAD v4
1g.244053907C>ACA424360634ZBTB18c.106C>A (p.Arg36=)
c.*63C>A (n.*63C>A)
c.133C>A (p.Arg45=)
 gnomAD v4
1g.244053907C=CA1230659585ZBTB18c.106C= (p.Arg36=)
c.*63C= (n.*63C=)
c.133C= (p.Arg45=)
1g.244053907C>GCA345672207ZBTB18c.106C>G (p.Arg36Gly)
c.*63C>G (n.*63C>G)
c.133C>G (p.Arg45Gly)
1g.244053907C>TCA345672208ZBTB18c.106C>T (p.Arg36Ter)
c.*63C>T (n.*63C>T)
c.133C>T (p.Arg45Ter)
 ClinVar dbSNP
1g.244053908G>ACA345672209ZBTB18c.107G>A (p.Arg36Gln)
c.*64G>A (n.*64G>A)
c.134G>A (p.Arg45Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.244053908G>CCA345672210ZBTB18c.107G>C (p.Arg36Pro)
c.*64G>C (n.*64G>C)
c.134G>C (p.Arg45Pro)
1g.244053908G=CA1230659586ZBTB18c.107G= (p.Arg36=)
c.*64G= (n.*64G=)
c.134G= (p.Arg45=)
1g.244053908G>TCA345672211ZBTB18c.107G>T (p.Arg36Leu)
c.*64G>T (n.*64G>T)
c.134G>T (p.Arg45Leu)
1g.244053909A=CA1230659587ZBTB18c.108A= (p.Arg36=)
c.*65A= (n.*65A=)
c.135A= (p.Arg45=)
1g.244053909A>CCA424360635ZBTB18c.108A>C (p.Arg36=)
c.*65A>C (n.*65A>C)
c.135A>C (p.Arg45=)
1g.244053909A>GCA424360636ZBTB18c.108A>G (p.Arg36=)
c.*65A>G (n.*65A>G)
c.135A>G (p.Arg45=)
 dbSNP gnomAD v4
1g.244053909A>TCA424360637ZBTB18c.108A>T (p.Arg36=)
c.*65A>T (n.*65A>T)
c.135A>T (p.Arg45=)
1g.244053910G>ACA345672212ZBTB18c.109G>A (p.Ala37Thr)
c.*66G>A (n.*66G>A)
c.136G>A (p.Ala46Thr)
 COSMIC COSMIC
1g.244053910G>CCA345672213ZBTB18c.109G>C (p.Ala37Pro)
c.*66G>C (n.*66G>C)
c.136G>C (p.Ala46Pro)
1g.244053910G>TCA345672214ZBTB18c.109G>T (p.Ala37Ser)
c.*66G>T (n.*66G>T)
c.136G>T (p.Ala46Ser)
1g.244053911C>ACA345672215ZBTB18c.110C>A (p.Ala37Glu)
c.*67C>A (n.*67C>A)
c.137C>A (p.Ala46Glu)
 COSMIC COSMIC
1g.244053911C=CA1230659588ZBTB18c.110C= (p.Ala37=)
c.*67C= (n.*67C=)
c.137C= (p.Ala46=)
1g.244053911C>GCA345672217ZBTB18c.110C>G (p.Ala37Gly)
c.*67C>G (n.*67C>G)
c.137C>G (p.Ala46Gly)
 dbSNP gnomAD v4
1g.244053911C>TCA345672216ZBTB18c.110C>T (p.Ala37Val)
c.*67C>T (n.*67C>T)
c.137C>T (p.Ala46Val)
 gnomAD v4
1g.244053912G>ACA1484269ZBTB18c.111G>A (p.Ala37=)
c.*68G>A (n.*68G>A)
c.138G>A (p.Ala46=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.244053912G>CCA424360638ZBTB18c.111G>C (p.Ala37=)
c.*68G>C (n.*68G>C)
c.138G>C (p.Ala46=)
 gnomAD v4
1g.244053912G=CA1230659589ZBTB18c.111G= (p.Ala37=)
c.*68G= (n.*68G=)
c.138G= (p.Ala46=)
1g.244053912G>TCA424360639ZBTB18c.111G>T (p.Ala37=)
c.*68G>T (n.*68G>T)
c.138G>T (p.Ala46=)
 gnomAD v4
1g.244053913C>ACA345672218ZBTB18c.112C>A (p.His38Asn)
c.*69C>A (n.*69C>A)
c.139C>A (p.His47Asn)
1g.244053913C>GCA345672219ZBTB18c.112C>G (p.His38Asp)
c.*69C>G (n.*69C>G)
c.139C>G (p.His47Asp)
1g.244053913C>TCA345672220ZBTB18c.112C>T (p.His38Tyr)
c.*69C>T (n.*69C>T)
c.139C>T (p.His47Tyr)
1g.244053914A>CCA345672221ZBTB18c.113A>C (p.His38Pro)
c.*70A>C (n.*70A>C)
c.140A>C (p.His47Pro)
1g.244053914A>GCA345672222ZBTB18c.113A>G (p.His38Arg)
c.*70A>G (n.*70A>G)
c.140A>G (p.His47Arg)
1g.244053914A>TCA345672223ZBTB18c.113A>T (p.His38Leu)
c.*70A>T (n.*70A>T)
c.140A>T (p.His47Leu)
1g.244053915C>ACA345672224ZBTB18c.114C>A (p.His38Gln)
c.*71C>A (n.*71C>A)
c.141C>A (p.His47Gln)
1g.244053915C>GCA345672225ZBTB18c.114C>G (p.His38Gln)
c.*71C>G (n.*71C>G)
c.141C>G (p.His47Gln)
1g.244053915C>TCA424360640ZBTB18c.114C>T (p.His38=)
c.*71C>T (n.*71C>T)
c.141C>T (p.His47=)
1g.244053916C>ACA424360641ZBTB18c.115C>A (p.Arg39=)
c.*72C>A (n.*72C>A)
c.142C>A (p.Arg48=)
1g.244053916C=CA1230659590ZBTB18c.115C= (p.Arg39=)
c.*72C= (n.*72C=)
c.142C= (p.Arg48=)
1g.244053916C>GCA345672226ZBTB18c.115C>G (p.Arg39Gly)
c.*72C>G (n.*72C>G)
c.142C>G (p.Arg48Gly)
 ClinVar dbSNP
1g.244053916C>TCA345672227ZBTB18c.115C>T (p.Arg39Ter)
c.*72C>T (n.*72C>T)
c.142C>T (p.Arg48Ter)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched