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 |
|---|---|---|---|---|---|
| 1 | g.244054730A>C | CA345674063 | ZBTB18 | c.*133A>C (n.*133A>C) c.929A>C (p.Glu310Ala) c.*886A>C (n.*886A>C) c.956A>C (p.Glu319Ala) | |
| 1 | g.244054730A>G | CA345674064 | ZBTB18 | c.*133A>G (n.*133A>G) c.929A>G (p.Glu310Gly) c.*886A>G (n.*886A>G) c.956A>G (p.Glu319Gly) | |
| 1 | g.244054730A>T | CA345674065 | ZBTB18 | c.*133A>T (n.*133A>T) c.929A>T (p.Glu310Val) c.*886A>T (n.*886A>T) c.956A>T (p.Glu319Val) | |
| 1 | g.244054731G>A | CA424411169 | ZBTB18 | c.*134G>A (n.*134G>A) c.930G>A (p.Glu310=) c.*887G>A (n.*887G>A) c.957G>A (p.Glu319=) | gnomAD v4 |
| 1 | g.244054731G>C | CA345674066 | ZBTB18 | c.*134G>C (n.*134G>C) c.930G>C (p.Glu310Asp) c.*887G>C (n.*887G>C) c.957G>C (p.Glu319Asp) | dbSNP |
| 1 | g.244054731G>T | CA345674067 | ZBTB18 | c.*134G>T (n.*134G>T) c.930G>T (p.Glu310Asp) c.*887G>T (n.*887G>T) c.957G>T (p.Glu319Asp) | |
| 1 | g.244054732C>A | CA345674068 | ZBTB18 | c.*135C>A (n.*135C>A) c.931C>A (p.Pro311Thr) c.*888C>A (n.*888C>A) c.958C>A (p.Pro320Thr) | |
| 1 | g.244054732C= | CA1230659826 | ZBTB18 | c.*135C= (n.*135C=) c.931C= (p.Pro311=) c.*888C= (n.*888C=) c.958C= (p.Pro320=) | |
| 1 | g.244054732C>G | CA345674069 | ZBTB18 | c.*135C>G (n.*135C>G) c.931C>G (p.Pro311Ala) c.*888C>G (n.*888C>G) c.958C>G (p.Pro320Ala) | |
| 1 | g.244054732C>T | CA41081528 | ZBTB18 | c.*135C>T (n.*135C>T) c.931C>T (p.Pro311Ser) c.*888C>T (n.*888C>T) c.958C>T (p.Pro320Ser) | dbSNP gnomAD v4 |
| 1 | g.244054733C>A | CA345674070 | ZBTB18 | c.*136C>A (n.*136C>A) c.932C>A (p.Pro311Gln) c.*889C>A (n.*889C>A) c.959C>A (p.Pro320Gln) | gnomAD v4 |
| 1 | g.244054733C= | CA1230659827 | ZBTB18 | c.*136C= (n.*136C=) c.932C= (p.Pro311=) c.*889C= (n.*889C=) c.959C= (p.Pro320=) | |
| 1 | g.244054733C>G | CA345674071 | ZBTB18 | c.*136C>G (n.*136C>G) c.932C>G (p.Pro311Arg) c.*889C>G (n.*889C>G) c.959C>G (p.Pro320Arg) | |
| 1 | g.244054733C>T | CA1484368 | ZBTB18 | c.*136C>T (n.*136C>T) c.932C>T (p.Pro311Leu) c.*889C>T (n.*889C>T) c.959C>T (p.Pro320Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054734G>A | CA1484369 | ZBTB18 | c.*137G>A (n.*137G>A) c.933G>A (p.Pro311=) c.*890G>A (n.*890G>A) c.960G>A (p.Pro320=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054734G>C | CA424411171 | ZBTB18 | c.*137G>C (n.*137G>C) c.933G>C (p.Pro311=) c.*890G>C (n.*890G>C) c.960G>C (p.Pro320=) | |
| 1 | g.244054734G= | CA1143833952 | ZBTB18 | c.*137G= (n.*137G=) c.933G= (p.Pro311=) c.*890G= (n.*890G=) c.960G= (p.Pro320=) | |
| 1 | g.244054734G>T | CA424411172 | ZBTB18 | c.*137G>T (n.*137G>T) c.933G>T (p.Pro311=) c.*890G>T (n.*890G>T) c.960G>T (p.Pro320=) | gnomAD v4 |
| 1 | g.244054735G>A | CA1484370 | ZBTB18 | c.*138G>A (n.*138G>A) c.934G>A (p.Ala312Thr) c.*891G>A (n.*891G>A) c.961G>A (p.Ala321Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054735G>C | CA345674072 | ZBTB18 | c.*138G>C (n.*138G>C) c.934G>C (p.Ala312Pro) c.*891G>C (n.*891G>C) c.961G>C (p.Ala321Pro) | |
| 1 | g.244054735G= | CA1148232986 | ZBTB18 | c.*138G= (n.*138G=) c.934G= (p.Ala312=) c.*891G= (n.*891G=) c.961G= (p.Ala321=) | |
| 1 | g.244054735G>T | CA345674073 | ZBTB18 | c.*138G>T (n.*138G>T) c.934G>T (p.Ala312Ser) c.*891G>T (n.*891G>T) c.961G>T (p.Ala321Ser) | |
| 1 | g.244054736C>A | CA345674074 | ZBTB18 | c.*139C>A (n.*139C>A) c.935C>A (p.Ala312Asp) c.*892C>A (n.*892C>A) c.962C>A (p.Ala321Asp) | |
| 1 | g.244054736C= | CA1230659828 | ZBTB18 | c.*139C= (n.*139C=) c.935C= (p.Ala312=) c.*892C= (n.*892C=) c.962C= (p.Ala321=) | |
| 1 | g.244054736C>G | CA345674075 | ZBTB18 | c.*139C>G (n.*139C>G) c.935C>G (p.Ala312Gly) c.*892C>G (n.*892C>G) c.962C>G (p.Ala321Gly) | |
| 1 | g.244054736C>T | CA345674076 | ZBTB18 | c.*139C>T (n.*139C>T) c.935C>T (p.Ala312Val) c.*892C>T (n.*892C>T) c.962C>T (p.Ala321Val) | ClinVar dbSNP |
| 1 | g.244054737C>A | CA424411175 | ZBTB18 | c.*140C>A (n.*140C>A) c.936C>A (p.Ala312=) c.*893C>A (n.*893C>A) c.963C>A (p.Ala321=) | gnomAD v4 |
| 1 | g.244054737C= | CA1230659829 | ZBTB18 | c.*140C= (n.*140C=) c.936C= (p.Ala312=) c.*893C= (n.*893C=) c.963C= (p.Ala321=) | |
| 1 | g.244054737C>G | CA424411176 | ZBTB18 | c.*140C>G (n.*140C>G) c.936C>G (p.Ala312=) c.*893C>G (n.*893C>G) c.963C>G (p.Ala321=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054737C>T | CA424411177 | ZBTB18 | c.*140C>T (n.*140C>T) c.936C>T (p.Ala312=) c.*893C>T (n.*893C>T) c.963C>T (p.Ala321=) | |
| 1 | g.244054738C>A | CA345674079 | ZBTB18 | c.*141C>A (n.*141C>A) c.937C>A (p.His313Asn) c.*894C>A (n.*894C>A) c.964C>A (p.His322Asn) | |
| 1 | g.244054738C>G | CA345674077 | ZBTB18 | c.*141C>G (n.*141C>G) c.937C>G (p.His313Asp) c.*894C>G (n.*894C>G) c.964C>G (p.His322Asp) | |
| 1 | g.244054738C>T | CA345674078 | ZBTB18 | c.*141C>T (n.*141C>T) c.937C>T (p.His313Tyr) c.*894C>T (n.*894C>T) c.964C>T (p.His322Tyr) | |
| 1 | g.244054739A>C | CA345674080 | ZBTB18 | c.*142A>C (n.*142A>C) c.938A>C (p.His313Pro) c.*895A>C (n.*895A>C) c.965A>C (p.His322Pro) | gnomAD v4 |
| 1 | g.244054739A>G | CA345674081 | ZBTB18 | c.*142A>G (n.*142A>G) c.938A>G (p.His313Arg) c.*895A>G (n.*895A>G) c.965A>G (p.His322Arg) | gnomAD v4 |
| 1 | g.244054739A>T | CA345674082 | ZBTB18 | c.*142A>T (n.*142A>T) c.938A>T (p.His313Leu) c.*895A>T (n.*895A>T) c.965A>T (p.His322Leu) | |
| 1 | g.244054740T>A | CA345674083 | ZBTB18 | c.*143T>A (n.*143T>A) c.939T>A (p.His313Gln) c.*896T>A (n.*896T>A) c.966T>A (p.His322Gln) | COSMIC COSMIC |
| 1 | g.244054740T>C | CA424411183 | ZBTB18 | c.*143T>C (n.*143T>C) c.939T>C (p.His313=) c.*896T>C (n.*896T>C) c.966T>C (p.His322=) | gnomAD v4 |
| 1 | g.244054740T>G | CA345674084 | ZBTB18 | c.*143T>G (n.*143T>G) c.939T>G (p.His313Gln) c.*896T>G (n.*896T>G) c.966T>G (p.His322Gln) | |
| 1 | g.244054741C>A | CA345674085 | ZBTB18 | c.*144C>A (n.*144C>A) c.940C>A (p.Leu314Met) c.*897C>A (n.*897C>A) c.967C>A (p.Leu323Met) | |
| 1 | g.244054741C= | CA1230659830 | ZBTB18 | c.*144C= (n.*144C=) c.940C= (p.Leu314=) c.*897C= (n.*897C=) c.967C= (p.Leu323=) | |
| 1 | g.244054741C>G | CA345674086 | ZBTB18 | c.*144C>G (n.*144C>G) c.940C>G (p.Leu314Val) c.*897C>G (n.*897C>G) c.967C>G (p.Leu323Val) | |
| 1 | g.244054741C>T | CA424411184 | ZBTB18 | c.*144C>T (n.*144C>T) c.940C>T (p.Leu314=) c.*897C>T (n.*897C>T) c.967C>T (p.Leu323=) | |
| 1 | g.244054741_244054742insG | CA915943702 | ZBTB18 | c.*144_*145insG (n.*144_*145insG) c.940_941insG (p.Leu314ArgfsTer21) c.*897_*898insG (n.*897_*898insG) c.967_968insG (p.Leu323ArgfsTer21) | ClinVar dbSNP |
| 1 | g.244054742T>A | CA345674087 | ZBTB18 | c.*145T>A (n.*145T>A) c.941T>A (p.Leu314Gln) c.*898T>A (n.*898T>A) c.968T>A (p.Leu323Gln) | |
| 1 | g.244054742T>C | CA345674088 | ZBTB18 | c.*145T>C (n.*145T>C) c.941T>C (p.Leu314Pro) c.*898T>C (n.*898T>C) c.968T>C (p.Leu323Pro) | |
| 1 | g.244054742T>G | CA345674089 | ZBTB18 | c.*145T>G (n.*145T>G) c.941T>G (p.Leu314Arg) c.*898T>G (n.*898T>G) c.968T>G (p.Leu323Arg) | |
| 1 | g.244054743G>A | CA424411188 | ZBTB18 | c.*146G>A (n.*146G>A) c.942G>A (p.Leu314=) c.*899G>A (n.*899G>A) c.969G>A (p.Leu323=) | |
| 1 | g.244054743G>C | CA424411189 | ZBTB18 | c.*146G>C (n.*146G>C) c.942G>C (p.Leu314=) c.*899G>C (n.*899G>C) c.969G>C (p.Leu323=) | |
| 1 | g.244054743G>T | CA424411190 | ZBTB18 | c.*146G>T (n.*146G>T) c.942G>T (p.Leu314=) c.*899G>T (n.*899G>T) c.969G>T (p.Leu323=) | |
| 1 | g.244054744G>A | CA345674090 | ZBTB18 | c.*147G>A (n.*147G>A) c.943G>A (p.Ala315Thr) c.*900G>A (n.*900G>A) c.970G>A (p.Ala324Thr) | |
| 1 | g.244054744G>C | CA345674091 | ZBTB18 | c.*147G>C (n.*147G>C) c.943G>C (p.Ala315Pro) c.*900G>C (n.*900G>C) c.970G>C (p.Ala324Pro) | |
| 1 | g.244054744G>T | CA345674092 | ZBTB18 | c.*147G>T (n.*147G>T) c.943G>T (p.Ala315Ser) c.*900G>T (n.*900G>T) c.970G>T (p.Ala324Ser) | |
| 1 | g.244054745C>A | CA345674093 | ZBTB18 | c.*148C>A (n.*148C>A) c.944C>A (p.Ala315Asp) c.*901C>A (n.*901C>A) c.971C>A (p.Ala324Asp) | |
| 1 | g.244054745C= | CA1230659831 | ZBTB18 | c.*148C= (n.*148C=) c.944C= (p.Ala315=) c.*901C= (n.*901C=) c.971C= (p.Ala324=) | |
| 1 | g.244054745C>G | CA345674094 | ZBTB18 | c.*148C>G (n.*148C>G) c.944C>G (p.Ala315Gly) c.*901C>G (n.*901C>G) c.971C>G (p.Ala324Gly) | |
| 1 | g.244054745C>T | CA41081529 | ZBTB18 | c.*148C>T (n.*148C>T) c.944C>T (p.Ala315Val) c.*901C>T (n.*901C>T) c.971C>T (p.Ala324Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054746T>A | CA424411196 | ZBTB18 | c.*149T>A (n.*149T>A) c.945T>A (p.Ala315=) c.*902T>A (n.*902T>A) c.972T>A (p.Ala324=) | |
| 1 | g.244054746T>C | CA424411197 | ZBTB18 | c.*149T>C (n.*149T>C) c.945T>C (p.Ala315=) c.*902T>C (n.*902T>C) c.972T>C (p.Ala324=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054746T>G | CA424411198 | ZBTB18 | c.*149T>G (n.*149T>G) c.945T>G (p.Ala315=) c.*902T>G (n.*902T>G) c.972T>G (p.Ala324=) | |
| 1 | g.244054746T= | CA1230659832 | ZBTB18 | c.*149T= (n.*149T=) c.945T= (p.Ala315=) c.*902T= (n.*902T=) c.972T= (p.Ala324=) | |
| 1 | g.244054747C>A | CA345674096 | ZBTB18 | c.*150C>A (n.*150C>A) c.946C>A (p.Pro316Thr) c.*903C>A (n.*903C>A) c.973C>A (p.Pro325Thr) | |
| 1 | g.244054747C>G | CA345674095 | ZBTB18 | c.*150C>G (n.*150C>G) c.946C>G (p.Pro316Ala) c.*903C>G (n.*903C>G) c.973C>G (p.Pro325Ala) | gnomAD v4 |
| 1 | g.244054747C>T | CA345674097 | ZBTB18 | c.*150C>T (n.*150C>T) c.946C>T (p.Pro316Ser) c.*903C>T (n.*903C>T) c.973C>T (p.Pro325Ser) | |
| 1 | g.244054748C>A | CA345674098 | ZBTB18 | c.*151C>A (n.*151C>A) c.947C>A (p.Pro316His) c.*904C>A (n.*904C>A) c.974C>A (p.Pro325His) | |
| 1 | g.244054748C= | CA1230659833 | ZBTB18 | c.*151C= (n.*151C=) c.947C= (p.Pro316=) c.*904C= (n.*904C=) c.974C= (p.Pro325=) | |
| 1 | g.244054748C>G | CA345674100 | ZBTB18 | c.*151C>G (n.*151C>G) c.947C>G (p.Pro316Arg) c.*904C>G (n.*904C>G) c.974C>G (p.Pro325Arg) | |
| 1 | g.244054748C>T | CA345674099 | ZBTB18 | c.*151C>T (n.*151C>T) c.947C>T (p.Pro316Leu) c.*904C>T (n.*904C>T) c.974C>T (p.Pro325Leu) | dbSNP gnomAD v4 |
| 1 | g.244054749C>A | CA424411203 | ZBTB18 | c.*152C>A (n.*152C>A) c.948C>A (p.Pro316=) c.*905C>A (n.*905C>A) c.975C>A (p.Pro325=) | |
| 1 | g.244054749C= | CA1230659834 | ZBTB18 | c.*152C= (n.*152C=) c.948C= (p.Pro316=) c.*905C= (n.*905C=) c.975C= (p.Pro325=) | |
| 1 | g.244054749C>G | CA424411204 | ZBTB18 | c.*152C>G (n.*152C>G) c.948C>G (p.Pro316=) c.*905C>G (n.*905C>G) c.975C>G (p.Pro325=) | |
| 1 | g.244054749C>T | CA424411206 | ZBTB18 | c.*152C>T (n.*152C>T) c.948C>T (p.Pro316=) c.*905C>T (n.*905C>T) c.975C>T (p.Pro325=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054750C>A | CA41081530 | ZBTB18 | c.*153C>A (n.*153C>A) c.949C>A (p.Leu317Met) c.*906C>A (n.*906C>A) c.976C>A (p.Leu326Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054750C= | CA1230659835 | ZBTB18 | c.*153C= (n.*153C=) c.949C= (p.Leu317=) c.*906C= (n.*906C=) c.976C= (p.Leu326=) | |
| 1 | g.244054750C>G | CA345674101 | ZBTB18 | c.*153C>G (n.*153C>G) c.949C>G (p.Leu317Val) c.*906C>G (n.*906C>G) c.976C>G (p.Leu326Val) | |
| 1 | g.244054750C>T | CA424411207 | ZBTB18 | c.*153C>T (n.*153C>T) c.949C>T (p.Leu317=) c.*906C>T (n.*906C>T) c.976C>T (p.Leu326=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054751T>A | CA345674102 | ZBTB18 | c.*154T>A (n.*154T>A) c.950T>A (p.Leu317Gln) c.*907T>A (n.*907T>A) c.977T>A (p.Leu326Gln) | |
| 1 | g.244054751T>C | CA1484372 | ZBTB18 | c.*154T>C (n.*154T>C) c.950T>C (p.Leu317Pro) c.*907T>C (n.*907T>C) c.977T>C (p.Leu326Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054751T>G | CA345674103 | ZBTB18 | c.*154T>G (n.*154T>G) c.950T>G (p.Leu317Arg) c.*907T>G (n.*907T>G) c.977T>G (p.Leu326Arg) | |
| 1 | g.244054751T= | CA1144179513 | ZBTB18 | c.*154T= (n.*154T=) c.950T= (p.Leu317=) c.*907T= (n.*907T=) c.977T= (p.Leu326=) | |
| 1 | g.244054759_244054776dup | CA1484371 | ZBTB18 | c.*162_*179dup (n.*162_*179dup) c.958_975dup (p.Glu325_Leu326insAspSerValLeuArgGlu) c.*915_*932dup (n.*915_*932dup) c.985_1002dup (p.Glu334_Leu335insAspSerValLeuArgGlu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054752G>A | CA424411214 | ZBTB18 | c.*155G>A (n.*155G>A) c.951G>A (p.Leu317=) c.*908G>A (n.*908G>A) c.978G>A (p.Leu326=) | dbSNP |
| 1 | g.244054752G>C | CA424411215 | ZBTB18 | c.*155G>C (n.*155G>C) c.951G>C (p.Leu317=) c.*908G>C (n.*908G>C) c.978G>C (p.Leu326=) | |
| 1 | g.244054752G= | CA1230659836 | ZBTB18 | c.*155G= (n.*155G=) c.951G= (p.Leu317=) c.*908G= (n.*908G=) c.978G= (p.Leu326=) | |
| 1 | g.244054752G>T | CA424411216 | ZBTB18 | c.*155G>T (n.*155G>T) c.951G>T (p.Leu317=) c.*908G>T (n.*908G>T) c.978G>T (p.Leu326=) | |
| 1 | g.244054753A>C | CA424411217 | ZBTB18 | c.*156A>C (n.*156A>C) c.952A>C (p.Arg318=) c.*909A>C (n.*909A>C) c.979A>C (p.Arg327=) | |
| 1 | g.244054753A>G | CA345674104 | ZBTB18 | c.*156A>G (n.*156A>G) c.952A>G (p.Arg318Gly) c.*909A>G (n.*909A>G) c.979A>G (p.Arg327Gly) | |
| 1 | g.244054753A>T | CA345674105 | ZBTB18 | c.*156A>T (n.*156A>T) c.952A>T (p.Arg318Trp) c.*909A>T (n.*909A>T) c.979A>T (p.Arg327Trp) | |
| 1 | g.244054754G>A | CA345674106 | ZBTB18 | c.*157G>A (n.*157G>A) c.953G>A (p.Arg318Lys) c.*910G>A (n.*910G>A) c.980G>A (p.Arg327Lys) | |
| 1 | g.244054754G>C | CA345674107 | ZBTB18 | c.*157G>C (n.*157G>C) c.953G>C (p.Arg318Thr) c.*910G>C (n.*910G>C) c.980G>C (p.Arg327Thr) | |
| 1 | g.244054754G>T | CA345674108 | ZBTB18 | c.*157G>T (n.*157G>T) c.953G>T (p.Arg318Met) c.*910G>T (n.*910G>T) c.980G>T (p.Arg327Met) | |
| 1 | g.244054755_244054756dup | CA2573332748 | ZBTB18 | c.*158_*159dup (n.*158_*159dup) c.954_955dup (p.Glu319GlyfsTer6) c.*911_*912dup (n.*911_*912dup) c.981_982dup (p.Glu328GlyfsTer6) | |
| 1 | g.244054762_244054791del | CA2651317666 | ZBTB18 | c.*165_*194del (n.*165_*194del) c.961_990del (p.Ser321_Asp330del) c.*918_*947del (n.*918_*947del) c.988_1017del (p.Ser330_Asp339del) | gnomAD v4 |
| 1 | g.244054755G>A | CA424411221 | ZBTB18 | c.*158G>A (n.*158G>A) c.954G>A (p.Arg318=) c.*911G>A (n.*911G>A) c.981G>A (p.Arg327=) | gnomAD v4 |
| 1 | g.244054755G>C | CA345674109 | ZBTB18 | c.*158G>C (n.*158G>C) c.954G>C (p.Arg318Ser) c.*911G>C (n.*911G>C) c.981G>C (p.Arg327Ser) | |
| 1 | g.244054755G>T | CA345674110 | ZBTB18 | c.*158G>T (n.*158G>T) c.954G>T (p.Arg318Ser) c.*911G>T (n.*911G>T) c.981G>T (p.Arg327Ser) | |
| 1 | g.244054756G>A | CA345674111 | ZBTB18 | c.*159G>A (n.*159G>A) c.955G>A (p.Glu319Lys) c.*912G>A (n.*912G>A) c.982G>A (p.Glu328Lys) | |
| 1 | g.244054756G>C | CA345674113 | ZBTB18 | c.*159G>C (n.*159G>C) c.955G>C (p.Glu319Gln) c.*912G>C (n.*912G>C) c.982G>C (p.Glu328Gln) | |
| 1 | g.244054756G>T | CA345674112 | ZBTB18 | c.*159G>T (n.*159G>T) c.955G>T (p.Glu319Ter) c.*912G>T (n.*912G>T) c.982G>T (p.Glu328Ter) | |
| 1 | g.244054757A= | CA1230659837 | ZBTB18 | c.*160A= (n.*160A=) c.956A= (p.Glu319=) c.*913A= (n.*913A=) c.983A= (p.Glu328=) | |
| 1 | g.244054757A>C | CA345674114 | ZBTB18 | c.*160A>C (n.*160A>C) c.956A>C (p.Glu319Ala) c.*913A>C (n.*913A>C) c.983A>C (p.Glu328Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054757A>G | CA345674115 | ZBTB18 | c.*160A>G (n.*160A>G) c.956A>G (p.Glu319Gly) c.*913A>G (n.*913A>G) c.983A>G (p.Glu328Gly) | |
| 1 | g.244054757A>T | CA345674116 | ZBTB18 | c.*160A>T (n.*160A>T) c.956A>T (p.Glu319Val) c.*913A>T (n.*913A>T) c.983A>T (p.Glu328Val) | |
| 1 | g.244054758G>A | CA424411224 | ZBTB18 | c.*161G>A (n.*161G>A) c.957G>A (p.Glu319=) c.*914G>A (n.*914G>A) c.984G>A (p.Glu328=) | dbSNP gnomAD v2 |
| 1 | g.244054758G>C | CA345674117 | ZBTB18 | c.*161G>C (n.*161G>C) c.957G>C (p.Glu319Asp) c.*914G>C (n.*914G>C) c.984G>C (p.Glu328Asp) | |
| 1 | g.244054758G= | CA1230659838 | ZBTB18 | c.*161G= (n.*161G=) c.957G= (p.Glu319=) c.*914G= (n.*914G=) c.984G= (p.Glu328=) | |
| 1 | g.244054758G>T | CA345674118 | ZBTB18 | c.*161G>T (n.*161G>T) c.957G>T (p.Glu319Asp) c.*914G>T (n.*914G>T) c.984G>T (p.Glu328Asp) | |
| 1 | g.244054759G>A | CA345674119 | ZBTB18 | c.*162G>A (n.*162G>A) c.958G>A (p.Asp320Asn) c.*915G>A (n.*915G>A) c.985G>A (p.Asp329Asn) | |
| 1 | g.244054759G>C | CA345674120 | ZBTB18 | c.*162G>C (n.*162G>C) c.958G>C (p.Asp320His) c.*915G>C (n.*915G>C) c.985G>C (p.Asp329His) | |
| 1 | g.244054759G>T | CA345674121 | ZBTB18 | c.*162G>T (n.*162G>T) c.958G>T (p.Asp320Tyr) c.*915G>T (n.*915G>T) c.985G>T (p.Asp329Tyr) | COSMIC COSMIC |
| 1 | g.244054760A>C | CA345674122 | ZBTB18 | c.*163A>C (n.*163A>C) c.959A>C (p.Asp320Ala) c.*916A>C (n.*916A>C) c.986A>C (p.Asp329Ala) | |
| 1 | g.244054760A>G | CA345674123 | ZBTB18 | c.*163A>G (n.*163A>G) c.959A>G (p.Asp320Gly) c.*916A>G (n.*916A>G) c.986A>G (p.Asp329Gly) | |
| 1 | g.244054760A>T | CA345674124 | ZBTB18 | c.*163A>T (n.*163A>T) c.959A>T (p.Asp320Val) c.*916A>T (n.*916A>T) c.986A>T (p.Asp329Val) | |
| 1 | g.244054761C>A | CA345674125 | ZBTB18 | c.*164C>A (n.*164C>A) c.960C>A (p.Asp320Glu) c.*917C>A (n.*917C>A) c.987C>A (p.Asp329Glu) | |
| 1 | g.244054761C= | CA1143425857 | ZBTB18 | c.*164C= (n.*164C=) c.960C= (p.Asp320=) c.*917C= (n.*917C=) c.987C= (p.Asp329=) | |
| 1 | g.244054761C>G | CA1484373 | ZBTB18 | c.*164C>G (n.*164C>G) c.960C>G (p.Asp320Glu) c.*917C>G (n.*917C>G) c.987C>G (p.Asp329Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054761C>T | CA424411231 | ZBTB18 | c.*164C>T (n.*164C>T) c.960C>T (p.Asp320=) c.*917C>T (n.*917C>T) c.987C>T (p.Asp329=) | gnomAD v4 |
| 1 | g.244054762T>A | CA345674126 | ZBTB18 | c.*165T>A (n.*165T>A) c.961T>A (p.Ser321Thr) c.*918T>A (n.*918T>A) c.988T>A (p.Ser330Thr) | |
| 1 | g.244054762T>C | CA41081531 | ZBTB18 | c.*165T>C (n.*165T>C) c.961T>C (p.Ser321Pro) c.*918T>C (n.*918T>C) c.988T>C (p.Ser330Pro) | dbSNP |
| 1 | g.244054762T>G | CA345674127 | ZBTB18 | c.*165T>G (n.*165T>G) c.961T>G (p.Ser321Ala) c.*918T>G (n.*918T>G) c.988T>G (p.Ser330Ala) | |
| 1 | g.244054762T= | CA1230659839 | ZBTB18 | c.*165T= (n.*165T=) c.961T= (p.Ser321=) c.*918T= (n.*918T=) c.988T= (p.Ser330=) | |
| 1 | g.244054763C>A | CA345674128 | ZBTB18 | c.*166C>A (n.*166C>A) c.962C>A (p.Ser321Ter) c.*919C>A (n.*919C>A) c.989C>A (p.Ser330Ter) | |
| 1 | g.244054763C= | CA1148453466 | ZBTB18 | c.*166C= (n.*166C=) c.962C= (p.Ser321=) c.*919C= (n.*919C=) c.989C= (p.Ser330=) | |
| 1 | g.244054763C>G | CA345674129 | ZBTB18 | c.*166C>G (n.*166C>G) c.962C>G (p.Ser321Trp) c.*919C>G (n.*919C>G) c.989C>G (p.Ser330Trp) | gnomAD v4 |
| 1 | g.244054763C>T | CA1484374 | ZBTB18 | c.*166C>T (n.*166C>T) c.962C>T (p.Ser321Leu) c.*919C>T (n.*919C>T) c.989C>T (p.Ser330Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054764G>A | CA1484375 | ZBTB18 | c.*167G>A (n.*167G>A) c.963G>A (p.Ser321=) c.*920G>A (n.*920G>A) c.990G>A (p.Ser330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054764G>C | CA424411238 | ZBTB18 | c.*167G>C (n.*167G>C) c.963G>C (p.Ser321=) c.*920G>C (n.*920G>C) c.990G>C (p.Ser330=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054764G= | CA1141668862 | ZBTB18 | c.*167G= (n.*167G=) c.963G= (p.Ser321=) c.*920G= (n.*920G=) c.990G= (p.Ser330=) | |
| 1 | g.244054764G>T | CA424411239 | ZBTB18 | c.*167G>T (n.*167G>T) c.963G>T (p.Ser321=) c.*920G>T (n.*920G>T) c.990G>T (p.Ser330=) | gnomAD v4 |
| 1 | g.244054765G>A | CA41081532 | ZBTB18 | c.*168G>A (n.*168G>A) c.964G>A (p.Val322Ile) c.*921G>A (n.*921G>A) c.991G>A (p.Val331Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054765G>C | CA345674130 | ZBTB18 | c.*168G>C (n.*168G>C) c.964G>C (p.Val322Leu) c.*921G>C (n.*921G>C) c.991G>C (p.Val331Leu) | |
| 1 | g.244054765G= | CA1147120332 | ZBTB18 | c.*168G= (n.*168G=) c.964G= (p.Val322=) c.*921G= (n.*921G=) c.991G= (p.Val331=) | |
| 1 | g.244054765G>T | CA345674131 | ZBTB18 | c.*168G>T (n.*168G>T) c.964G>T (p.Val322Phe) c.*921G>T (n.*921G>T) c.991G>T (p.Val331Phe) | |
| 1 | g.244054766T>A | CA345674132 | ZBTB18 | c.*169T>A (n.*169T>A) c.965T>A (p.Val322Asp) c.*922T>A (n.*922T>A) c.992T>A (p.Val331Asp) | |
| 1 | g.244054766T>C | CA345674133 | ZBTB18 | c.*169T>C (n.*169T>C) c.965T>C (p.Val322Ala) c.*922T>C (n.*922T>C) c.992T>C (p.Val331Ala) | |
| 1 | g.244054766T>G | CA345674134 | ZBTB18 | c.*169T>G (n.*169T>G) c.965T>G (p.Val322Gly) c.*922T>G (n.*922T>G) c.992T>G (p.Val331Gly) | |
| 1 | g.244054767C>A | CA424411244 | ZBTB18 | c.*170C>A (n.*170C>A) c.966C>A (p.Val322=) c.*923C>A (n.*923C>A) c.993C>A (p.Val331=) | |
| 1 | g.244054767C= | CA1230659840 | ZBTB18 | c.*170C= (n.*170C=) c.966C= (p.Val322=) c.*923C= (n.*923C=) c.993C= (p.Val331=) | |
| 1 | g.244054767C>G | CA424411245 | ZBTB18 | c.*170C>G (n.*170C>G) c.966C>G (p.Val322=) c.*923C>G (n.*923C>G) c.993C>G (p.Val331=) | gnomAD v4 |
| 1 | g.244054767C>T | CA424411246 | ZBTB18 | c.*170C>T (n.*170C>T) c.966C>T (p.Val322=) c.*923C>T (n.*923C>T) c.993C>T (p.Val331=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.244054768T>A | CA345674136 | ZBTB18 | c.*171T>A (n.*171T>A) c.967T>A (p.Leu323Met) c.*924T>A (n.*924T>A) c.994T>A (p.Leu332Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054768T>C | CA424411247 | ZBTB18 | c.*171T>C (n.*171T>C) c.967T>C (p.Leu323=) c.*924T>C (n.*924T>C) c.994T>C (p.Leu332=) | |
| 1 | g.244054768T>G | CA345674135 | ZBTB18 | c.*171T>G (n.*171T>G) c.967T>G (p.Leu323Val) c.*924T>G (n.*924T>G) c.994T>G (p.Leu332Val) | gnomAD v4 |
| 1 | g.244054768T= | CA1230659841 | ZBTB18 | c.*171T= (n.*171T=) c.967T= (p.Leu323=) c.*924T= (n.*924T=) c.994T= (p.Leu332=) | |
| 1 | g.244054769T>A | CA345674137 | ZBTB18 | c.*172T>A (n.*172T>A) c.968T>A (p.Leu323Ter) c.*925T>A (n.*925T>A) c.995T>A (p.Leu332Ter) | |
| 1 | g.244054769T>C | CA345674138 | ZBTB18 | c.*172T>C (n.*172T>C) c.968T>C (p.Leu323Ser) c.*925T>C (n.*925T>C) c.995T>C (p.Leu332Ser) | |
| 1 | g.244054769T>G | CA345674139 | ZBTB18 | c.*172T>G (n.*172T>G) c.968T>G (p.Leu323Trp) c.*925T>G (n.*925T>G) c.995T>G (p.Leu332Trp) | |
| 1 | g.244054770G>A | CA424411250 | ZBTB18 | c.*173G>A (n.*173G>A) c.969G>A (p.Leu323=) c.*926G>A (n.*926G>A) c.996G>A (p.Leu332=) | COSMIC COSMIC |
| 1 | g.244054770G>C | CA345674140 | ZBTB18 | c.*173G>C (n.*173G>C) c.969G>C (p.Leu323Phe) c.*926G>C (n.*926G>C) c.996G>C (p.Leu332Phe) | |
| 1 | g.244054770G>T | CA345674141 | ZBTB18 | c.*173G>T (n.*173G>T) c.969G>T (p.Leu323Phe) c.*926G>T (n.*926G>T) c.996G>T (p.Leu332Phe) | |
| 1 | g.244054771A>C | CA424411254 | ZBTB18 | c.*174A>C (n.*174A>C) c.970A>C (p.Arg324=) c.*927A>C (n.*927A>C) c.997A>C (p.Arg333=) | |
| 1 | g.244054771A>G | CA345674142 | ZBTB18 | c.*174A>G (n.*174A>G) c.970A>G (p.Arg324Gly) c.*927A>G (n.*927A>G) c.997A>G (p.Arg333Gly) | |
| 1 | g.244054771A>T | CA345674143 | ZBTB18 | c.*174A>T (n.*174A>T) c.970A>T (p.Arg324Trp) c.*927A>T (n.*927A>T) c.997A>T (p.Arg333Trp) | |
| 1 | g.244054772G>A | CA345674144 | ZBTB18 | c.*175G>A (n.*175G>A) c.971G>A (p.Arg324Lys) c.*928G>A (n.*928G>A) c.998G>A (p.Arg333Lys) | |
| 1 | g.244054772G>C | CA345674145 | ZBTB18 | c.*175G>C (n.*175G>C) c.971G>C (p.Arg324Thr) c.*928G>C (n.*928G>C) c.998G>C (p.Arg333Thr) | |
| 1 | g.244054772G>T | CA345674146 | ZBTB18 | c.*175G>T (n.*175G>T) c.971G>T (p.Arg324Met) c.*928G>T (n.*928G>T) c.998G>T (p.Arg333Met) | |
| 1 | g.244054773G>A | CA424411258 | ZBTB18 | c.*176G>A (n.*176G>A) c.972G>A (p.Arg324=) c.*929G>A (n.*929G>A) c.999G>A (p.Arg333=) | dbSNP gnomAD v4 |
| 1 | g.244054773G>C | CA345674147 | ZBTB18 | c.*176G>C (n.*176G>C) c.972G>C (p.Arg324Ser) c.*929G>C (n.*929G>C) c.999G>C (p.Arg333Ser) | |
| 1 | g.244054773G= | CA1230659842 | ZBTB18 | c.*176G= (n.*176G=) c.972G= (p.Arg324=) c.*929G= (n.*929G=) c.999G= (p.Arg333=) | |
| 1 | g.244054773G>T | CA345674148 | ZBTB18 | c.*176G>T (n.*176G>T) c.972G>T (p.Arg324Ser) c.*929G>T (n.*929G>T) c.999G>T (p.Arg333Ser) | |
| 1 | g.244054774G>A | CA345674151 | ZBTB18 | c.*177G>A (n.*177G>A) c.973G>A (p.Glu325Lys) c.*930G>A (n.*930G>A) c.1000G>A (p.Glu334Lys) | gnomAD v4 |
| 1 | g.244054774G>C | CA345674150 | ZBTB18 | c.*177G>C (n.*177G>C) c.973G>C (p.Glu325Gln) c.*930G>C (n.*930G>C) c.1000G>C (p.Glu334Gln) | |
| 1 | g.244054774G>T | CA345674149 | ZBTB18 | c.*177G>T (n.*177G>T) c.973G>T (p.Glu325Ter) c.*930G>T (n.*930G>T) c.1000G>T (p.Glu334Ter) | |
| 1 | g.244054775A>C | CA345674152 | ZBTB18 | c.*178A>C (n.*178A>C) c.974A>C (p.Glu325Ala) c.*931A>C (n.*931A>C) c.1001A>C (p.Glu334Ala) | |
| 1 | g.244054775A>G | CA345674154 | ZBTB18 | c.*178A>G (n.*178A>G) c.974A>G (p.Glu325Gly) c.*931A>G (n.*931A>G) c.1001A>G (p.Glu334Gly) | |
| 1 | g.244054775A>T | CA345674153 | ZBTB18 | c.*178A>T (n.*178A>T) c.974A>T (p.Glu325Val) c.*931A>T (n.*931A>T) c.1001A>T (p.Glu334Val) | |
| 1 | g.244054776G>A | CA424411266 | ZBTB18 | c.*179G>A (n.*179G>A) c.975G>A (p.Glu325=) c.*932G>A (n.*932G>A) c.1002G>A (p.Glu334=) | |
| 1 | g.244054776G>C | CA345674155 | ZBTB18 | c.*179G>C (n.*179G>C) c.975G>C (p.Glu325Asp) c.*932G>C (n.*932G>C) c.1002G>C (p.Glu334Asp) | dbSNP |
| 1 | g.244054776G= | CA1230659843 | ZBTB18 | c.*179G= (n.*179G=) c.975G= (p.Glu325=) c.*932G= (n.*932G=) c.1002G= (p.Glu334=) | |
| 1 | g.244054776G>T | CA345674156 | ZBTB18 | c.*179G>T (n.*179G>T) c.975G>T (p.Glu325Asp) c.*932G>T (n.*932G>T) c.1002G>T (p.Glu334Asp) | |
| 1 | g.244054777C>A | CA345674157 | ZBTB18 | c.*180C>A (n.*180C>A) c.976C>A (p.Leu326Met) c.*933C>A (n.*933C>A) c.1003C>A (p.Leu335Met) | |
| 1 | g.244054777C= | CA1230659844 | ZBTB18 | c.*180C= (n.*180C=) c.976C= (p.Leu326=) c.*933C= (n.*933C=) c.1003C= (p.Leu335=) | |
| 1 | g.244054777C>G | CA345674158 | ZBTB18 | c.*180C>G (n.*180C>G) c.976C>G (p.Leu326Val) c.*933C>G (n.*933C>G) c.1003C>G (p.Leu335Val) | |
| 1 | g.244054777C>T | CA424411268 | ZBTB18 | c.*180C>T (n.*180C>T) c.976C>T (p.Leu326=) c.*933C>T (n.*933C>T) c.1003C>T (p.Leu335=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054778T>A | CA345674159 | ZBTB18 | c.*181T>A (n.*181T>A) c.977T>A (p.Leu326Gln) c.*934T>A (n.*934T>A) c.1004T>A (p.Leu335Gln) | |
| 1 | g.244054778T>C | CA345674160 | ZBTB18 | c.*181T>C (n.*181T>C) c.977T>C (p.Leu326Pro) c.*934T>C (n.*934T>C) c.1004T>C (p.Leu335Pro) | |
| 1 | g.244054778T>G | CA345674161 | ZBTB18 | c.*181T>G (n.*181T>G) c.977T>G (p.Leu326Arg) c.*934T>G (n.*934T>G) c.1004T>G (p.Leu335Arg) | gnomAD v4 |
| 1 | g.244054779G>A | CA1484376 | ZBTB18 | c.*182G>A (n.*182G>A) c.978G>A (p.Leu326=) c.*935G>A (n.*935G>A) c.1005G>A (p.Leu335=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054779G>C | CA424411271 | ZBTB18 | c.*182G>C (n.*182G>C) c.978G>C (p.Leu326=) c.*935G>C (n.*935G>C) c.1005G>C (p.Leu335=) | |
| 1 | g.244054779G= | CA1230659845 | ZBTB18 | c.*182G= (n.*182G=) c.978G= (p.Leu326=) c.*935G= (n.*935G=) c.1005G= (p.Leu335=) | |
| 1 | g.244054779G>T | CA424411273 | ZBTB18 | c.*182G>T (n.*182G>T) c.978G>T (p.Leu326=) c.*935G>T (n.*935G>T) c.1005G>T (p.Leu335=) | |
| 1 | g.244054780G>A | CA345674162 | ZBTB18 | c.*183G>A (n.*183G>A) c.979G>A (p.Asp327Asn) c.*936G>A (n.*936G>A) c.1006G>A (p.Asp336Asn) | gnomAD v4 |
| 1 | g.244054780G>C | CA345674163 | ZBTB18 | c.*183G>C (n.*183G>C) c.979G>C (p.Asp327His) c.*936G>C (n.*936G>C) c.1006G>C (p.Asp336His) | |
| 1 | g.244054780G>T | CA345674164 | ZBTB18 | c.*183G>T (n.*183G>T) c.979G>T (p.Asp327Tyr) c.*936G>T (n.*936G>T) c.1006G>T (p.Asp336Tyr) | |
| 1 | g.244054781A= | CA1230659846 | ZBTB18 | c.*184A= (n.*184A=) c.980A= (p.Asp327=) c.*937A= (n.*937A=) c.1007A= (p.Asp336=) | |
| 1 | g.244054781A>C | CA345674166 | ZBTB18 | c.*184A>C (n.*184A>C) c.980A>C (p.Asp327Ala) c.*937A>C (n.*937A>C) c.1007A>C (p.Asp336Ala) | |
| 1 | g.244054781A>G | CA345674165 | ZBTB18 | c.*184A>G (n.*184A>G) c.980A>G (p.Asp327Gly) c.*937A>G (n.*937A>G) c.1007A>G (p.Asp336Gly) | |
| 1 | g.244054781A>T | CA41081533 | ZBTB18 | c.*184A>T (n.*184A>T) c.980A>T (p.Asp327Val) c.*937A>T (n.*937A>T) c.1007A>T (p.Asp336Val) | dbSNP |
| 1 | g.244054782C>A | CA345674167 | ZBTB18 | c.*185C>A (n.*185C>A) c.981C>A (p.Asp327Glu) c.*938C>A (n.*938C>A) c.1008C>A (p.Asp336Glu) | dbSNP |
| 1 | g.244054782C= | CA1230659847 | ZBTB18 | c.*185C= (n.*185C=) c.981C= (p.Asp327=) c.*938C= (n.*938C=) c.1008C= (p.Asp336=) | |
| 1 | g.244054782C>G | CA345674168 | ZBTB18 | c.*185C>G (n.*185C>G) c.981C>G (p.Asp327Glu) c.*938C>G (n.*938C>G) c.1008C>G (p.Asp336Glu) | dbSNP |
| 1 | g.244054782C>T | CA424411282 | ZBTB18 | c.*185C>T (n.*185C>T) c.981C>T (p.Asp327=) c.*938C>T (n.*938C>T) c.1008C>T (p.Asp336=) | |
| 1 | g.244054783C>A | CA424411288 | ZBTB18 | c.*186C>A (n.*186C>A) c.982C>A (p.Arg328=) c.*939C>A (n.*939C>A) c.1009C>A (p.Arg337=) | |
| 1 | g.244054783C= | CA1230659848 | ZBTB18 | c.*186C= (n.*186C=) c.982C= (p.Arg328=) c.*939C= (n.*939C=) c.1009C= (p.Arg337=) | |
| 1 | g.244054783C>G | CA345674169 | ZBTB18 | c.*186C>G (n.*186C>G) c.982C>G (p.Arg328Gly) c.*939C>G (n.*939C>G) c.1009C>G (p.Arg337Gly) | |
| 1 | g.244054783C>T | CA345674170 | ZBTB18 | c.*186C>T (n.*186C>T) c.982C>T (p.Arg328Trp) c.*939C>T (n.*939C>T) c.1009C>T (p.Arg337Trp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.244054784G>A | CA1484377 | ZBTB18 | c.*187G>A (n.*187G>A) c.983G>A (p.Arg328Gln) c.*940G>A (n.*940G>A) c.1010G>A (p.Arg337Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054784G>C | CA345674171 | ZBTB18 | c.*187G>C (n.*187G>C) c.983G>C (p.Arg328Pro) c.*940G>C (n.*940G>C) c.1010G>C (p.Arg337Pro) | |
| 1 | g.244054784G= | CA1230659849 | ZBTB18 | c.*187G= (n.*187G=) c.983G= (p.Arg328=) c.*940G= (n.*940G=) c.1010G= (p.Arg337=) | |
| 1 | g.244054784G>T | CA345674172 | ZBTB18 | c.*187G>T (n.*187G>T) c.983G>T (p.Arg328Leu) c.*940G>T (n.*940G>T) c.1010G>T (p.Arg337Leu) | |
| 1 | g.244054786del | CA2697547796 | ZBTB18 | c.*189del (n.*189del) c.985del (p.Glu329ArgfsTer9) c.*942del (n.*942del) c.1012del (p.Glu338ArgfsTer9) | ClinVar |
| 1 | g.244054785G>A | CA424410359 | ZBTB18 | c.*188G>A (n.*188G>A) c.984G>A (p.Arg328=) c.*941G>A (n.*941G>A) c.1011G>A (p.Arg337=) | dbSNP gnomAD v2 |
| 1 | g.244054785G>C | CA424410358 | ZBTB18 | c.*188G>C (n.*188G>C) c.984G>C (p.Arg328=) c.*941G>C (n.*941G>C) c.1011G>C (p.Arg337=) | |
| 1 | g.244054785G= | CA1230659850 | ZBTB18 | c.*188G= (n.*188G=) c.984G= (p.Arg328=) c.*941G= (n.*941G=) c.1011G= (p.Arg337=) | |
| 1 | g.244054785G>T | CA424410357 | ZBTB18 | c.*188G>T (n.*188G>T) c.984G>T (p.Arg328=) c.*941G>T (n.*941G>T) c.1011G>T (p.Arg337=) | |
| 1 | g.244054786G>A | CA345674173 | ZBTB18 | c.*189G>A (n.*189G>A) c.985G>A (p.Glu329Lys) c.*942G>A (n.*942G>A) c.1012G>A (p.Glu338Lys) | gnomAD v4 |
| 1 | g.244054786G>C | CA345674174 | ZBTB18 | c.*189G>C (n.*189G>C) c.985G>C (p.Glu329Gln) c.*942G>C (n.*942G>C) c.1012G>C (p.Glu338Gln) | |
| 1 | g.244054786G>T | CA345674175 | ZBTB18 | c.*189G>T (n.*189G>T) c.985G>T (p.Glu329Ter) c.*942G>T (n.*942G>T) c.1012G>T (p.Glu338Ter) | |
| 1 | g.244054787A>C | CA345674176 | ZBTB18 | c.*190A>C (n.*190A>C) c.986A>C (p.Glu329Ala) c.*943A>C (n.*943A>C) c.1013A>C (p.Glu338Ala) | |
| 1 | g.244054787A>G | CA345674177 | ZBTB18 | c.*190A>G (n.*190A>G) c.986A>G (p.Glu329Gly) c.*943A>G (n.*943A>G) c.1013A>G (p.Glu338Gly) | |
| 1 | g.244054787A>T | CA345674178 | ZBTB18 | c.*190A>T (n.*190A>T) c.986A>T (p.Glu329Val) c.*943A>T (n.*943A>T) c.1013A>T (p.Glu338Val) | |
| 1 | g.244054788G>A | CA424410361 | ZBTB18 | c.*191G>A (n.*191G>A) c.987G>A (p.Glu329=) c.*944G>A (n.*944G>A) c.1014G>A (p.Glu338=) | dbSNP gnomAD v2 |
| 1 | g.244054788G>C | CA345674179 | ZBTB18 | c.*191G>C (n.*191G>C) c.987G>C (p.Glu329Asp) c.*944G>C (n.*944G>C) c.1014G>C (p.Glu338Asp) | |
| 1 | g.244054788G= | CA1230659851 | ZBTB18 | c.*191G= (n.*191G=) c.987G= (p.Glu329=) c.*944G= (n.*944G=) c.1014G= (p.Glu338=) | |
| 1 | g.244054788G>T | CA345674180 | ZBTB18 | c.*191G>T (n.*191G>T) c.987G>T (p.Glu329Asp) c.*944G>T (n.*944G>T) c.1014G>T (p.Glu338Asp) | |
| 1 | g.244054789G>A | CA345674181 | ZBTB18 | c.*192G>A (n.*192G>A) c.988G>A (p.Asp330Asn) c.*945G>A (n.*945G>A) c.1015G>A (p.Asp339Asn) | |
| 1 | g.244054789G>C | CA345674182 | ZBTB18 | c.*192G>C (n.*192G>C) c.988G>C (p.Asp330His) c.*945G>C (n.*945G>C) c.1015G>C (p.Asp339His) | |
| 1 | g.244054789G>T | CA345674183 | ZBTB18 | c.*192G>T (n.*192G>T) c.988G>T (p.Asp330Tyr) c.*945G>T (n.*945G>T) c.1015G>T (p.Asp339Tyr) | |
| 1 | g.244054790A>C | CA345674184 | ZBTB18 | c.*193A>C (n.*193A>C) c.989A>C (p.Asp330Ala) c.*946A>C (n.*946A>C) c.1016A>C (p.Asp339Ala) | |
| 1 | g.244054790A>G | CA345674185 | ZBTB18 | c.*193A>G (n.*193A>G) c.989A>G (p.Asp330Gly) c.*946A>G (n.*946A>G) c.1016A>G (p.Asp339Gly) | |
| 1 | g.244054790A>T | CA345674186 | ZBTB18 | c.*193A>T (n.*193A>T) c.989A>T (p.Asp330Val) c.*946A>T (n.*946A>T) c.1016A>T (p.Asp339Val) | |
| 1 | g.244054791C>A | CA345674187 | ZBTB18 | c.*194C>A (n.*194C>A) c.990C>A (p.Asp330Glu) c.*947C>A (n.*947C>A) c.1017C>A (p.Asp339Glu) | gnomAD v4 |
| 1 | g.244054791C= | CA1230659852 | ZBTB18 | c.*194C= (n.*194C=) c.990C= (p.Asp330=) c.*947C= (n.*947C=) c.1017C= (p.Asp339=) | |
| 1 | g.244054791C>G | CA345674188 | ZBTB18 | c.*194C>G (n.*194C>G) c.990C>G (p.Asp330Glu) c.*947C>G (n.*947C>G) c.1017C>G (p.Asp339Glu) | |
| 1 | g.244054791C>T | CA424410365 | ZBTB18 | c.*194C>T (n.*194C>T) c.990C>T (p.Asp330=) c.*947C>T (n.*947C>T) c.1017C>T (p.Asp339=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.244054792A>C | CA345674189 | ZBTB18 | c.*195A>C (n.*195A>C) c.991A>C (p.Lys331Gln) c.*948A>C (n.*948A>C) c.1018A>C (p.Lys340Gln) | |
| 1 | g.244054792A>G | CA345674190 | ZBTB18 | c.*195A>G (n.*195A>G) c.991A>G (p.Lys331Glu) c.*948A>G (n.*948A>G) c.1018A>G (p.Lys340Glu) | |
| 1 | g.244054792A>T | CA345674191 | ZBTB18 | c.*195A>T (n.*195A>T) c.991A>T (p.Lys331Ter) c.*948A>T (n.*948A>T) c.1018A>T (p.Lys340Ter) | |
| 1 | g.244054793A>C | CA345674192 | ZBTB18 | c.*196A>C (n.*196A>C) c.992A>C (p.Lys331Thr) c.*949A>C (n.*949A>C) c.1019A>C (p.Lys340Thr) | |
| 1 | g.244054793A>G | CA345674193 | ZBTB18 | c.*196A>G (n.*196A>G) c.992A>G (p.Lys331Arg) c.*949A>G (n.*949A>G) c.1019A>G (p.Lys340Arg) | |
| 1 | g.244054793A>T | CA345674194 | ZBTB18 | c.*196A>T (n.*196A>T) c.992A>T (p.Lys331Ile) c.*949A>T (n.*949A>T) c.1019A>T (p.Lys340Ile) | |
| 1 | g.244054794A= | CA1230659853 | ZBTB18 | c.*197A= (n.*197A=) c.993A= (p.Lys331=) c.*950A= (n.*950A=) c.1020A= (p.Lys340=) | |
| 1 | g.244054794A>C | CA345674195 | ZBTB18 | c.*197A>C (n.*197A>C) c.993A>C (p.Lys331Asn) c.*950A>C (n.*950A>C) c.1020A>C (p.Lys340Asn) | gnomAD v4 |
| 1 | g.244054794A>G | CA424410374 | ZBTB18 | c.*197A>G (n.*197A>G) c.993A>G (p.Lys331=) c.*950A>G (n.*950A>G) c.1020A>G (p.Lys340=) | dbSNP |
| 1 | g.244054794A>T | CA345674196 | ZBTB18 | c.*197A>T (n.*197A>T) c.993A>T (p.Lys331Asn) c.*950A>T (n.*950A>T) c.1020A>T (p.Lys340Asn) | |
| 1 | g.244054795G>A | CA41081534 | ZBTB18 | c.*198G>A (n.*198G>A) c.994G>A (p.Ala332Thr) c.*951G>A (n.*951G>A) c.1021G>A (p.Ala341Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054795G>C | CA345674197 | ZBTB18 | c.*198G>C (n.*198G>C) c.994G>C (p.Ala332Pro) c.*951G>C (n.*951G>C) c.1021G>C (p.Ala341Pro) | |
| 1 | g.244054795G= | CA1230659854 | ZBTB18 | c.*198G= (n.*198G=) c.994G= (p.Ala332=) c.*951G= (n.*951G=) c.1021G= (p.Ala341=) | |
| 1 | g.244054795G>T | CA345674198 | ZBTB18 | c.*198G>T (n.*198G>T) c.994G>T (p.Ala332Ser) c.*951G>T (n.*951G>T) c.1021G>T (p.Ala341Ser) | |
| 1 | g.244054796C>A | CA345674199 | ZBTB18 | c.*199C>A (n.*199C>A) c.995C>A (p.Ala332Asp) c.*952C>A (n.*952C>A) c.1022C>A (p.Ala341Asp) | |
| 1 | g.244054796C= | CA1230659855 | ZBTB18 | c.*199C= (n.*199C=) c.995C= (p.Ala332=) c.*952C= (n.*952C=) c.1022C= (p.Ala341=) | |
| 1 | g.244054796C>G | CA345674200 | ZBTB18 | c.*199C>G (n.*199C>G) c.995C>G (p.Ala332Gly) c.*952C>G (n.*952C>G) c.1022C>G (p.Ala341Gly) | |
| 1 | g.244054796C>T | CA1484378 | ZBTB18 | c.*199C>T (n.*199C>T) c.995C>T (p.Ala332Val) c.*952C>T (n.*952C>T) c.1022C>T (p.Ala341Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054797C>A | CA424410378 | ZBTB18 | c.*200C>A (n.*200C>A) c.996C>A (p.Ala332=) c.*953C>A (n.*953C>A) c.1023C>A (p.Ala341=) | dbSNP gnomAD v2 |
| 1 | g.244054797C= | CA1230659856 | ZBTB18 | c.*200C= (n.*200C=) c.996C= (p.Ala332=) c.*953C= (n.*953C=) c.1023C= (p.Ala341=) | |
| 1 | g.244054797C>G | CA424410380 | ZBTB18 | c.*200C>G (n.*200C>G) c.996C>G (p.Ala332=) c.*953C>G (n.*953C>G) c.1023C>G (p.Ala341=) | |
| 1 | g.244054797C>T | CA424410382 | ZBTB18 | c.*200C>T (n.*200C>T) c.996C>T (p.Ala332=) c.*953C>T (n.*953C>T) c.1023C>T (p.Ala341=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244054798A>C | CA345674201 | ZBTB18 | c.*201A>C (n.*201A>C) c.997A>C (p.Ser333Arg) c.*954A>C (n.*954A>C) c.1024A>C (p.Ser342Arg) | |
| 1 | g.244054798A>G | CA345674202 | ZBTB18 | c.*201A>G (n.*201A>G) c.997A>G (p.Ser333Gly) c.*954A>G (n.*954A>G) c.1024A>G (p.Ser342Gly) | gnomAD v4 |
| 1 | g.244054798A>T | CA345674203 | ZBTB18 | c.*201A>T (n.*201A>T) c.997A>T (p.Ser333Cys) c.*954A>T (n.*954A>T) c.1024A>T (p.Ser342Cys) | |
| 1 | g.244054799G>A | CA345674204 | ZBTB18 | c.*202G>A (n.*202G>A) c.998G>A (p.Ser333Asn) c.*955G>A (n.*955G>A) c.1025G>A (p.Ser342Asn) | |
| 1 | g.244054799G>C | CA345674205 | ZBTB18 | c.*202G>C (n.*202G>C) c.998G>C (p.Ser333Thr) c.*955G>C (n.*955G>C) c.1025G>C (p.Ser342Thr) | |
| 1 | g.244054799G>T | CA345674206 | ZBTB18 | c.*202G>T (n.*202G>T) c.998G>T (p.Ser333Ile) c.*955G>T (n.*955G>T) c.1025G>T (p.Ser342Ile) | |
| 1 | g.244054800T>A | CA345674208 | ZBTB18 | c.*203T>A (n.*203T>A) c.999T>A (p.Ser333Arg) c.*956T>A (n.*956T>A) c.1026T>A (p.Ser342Arg) | |
| 1 | g.244054800T>C | CA424410385 | ZBTB18 | c.*203T>C (n.*203T>C) c.999T>C (p.Ser333=) c.*956T>C (n.*956T>C) c.1026T>C (p.Ser342=) | dbSNP |
| 1 | g.244054800T>G | CA345674207 | ZBTB18 | c.*203T>G (n.*203T>G) c.999T>G (p.Ser333Arg) c.*956T>G (n.*956T>G) c.1026T>G (p.Ser342Arg) | |
| 1 | g.244054801G>A | CA345674209 | ZBTB18 | c.*204G>A (n.*204G>A) c.1000G>A (p.Asp334Asn) c.*957G>A (n.*957G>A) c.1027G>A (p.Asp343Asn) | gnomAD v4 |
| 1 | g.244054801G>C | CA345674211 | ZBTB18 | c.*204G>C (n.*204G>C) c.1000G>C (p.Asp334His) c.*957G>C (n.*957G>C) c.1027G>C (p.Asp343His) | |
| 1 | g.244054801G>T | CA345674210 | ZBTB18 | c.*204G>T (n.*204G>T) c.1000G>T (p.Asp334Tyr) c.*957G>T (n.*957G>T) c.1027G>T (p.Asp343Tyr) | |
| 1 | g.244054802A>C | CA345674212 | ZBTB18 | c.*205A>C (n.*205A>C) c.1001A>C (p.Asp334Ala) c.*958A>C (n.*958A>C) c.1028A>C (p.Asp343Ala) | |
| 1 | g.244054802A>G | CA345674213 | ZBTB18 | c.*205A>G (n.*205A>G) c.1001A>G (p.Asp334Gly) c.*958A>G (n.*958A>G) c.1028A>G (p.Asp343Gly) | |
| 1 | g.244054802A>T | CA345674214 | ZBTB18 | c.*205A>T (n.*205A>T) c.1001A>T (p.Asp334Val) c.*958A>T (n.*958A>T) c.1028A>T (p.Asp343Val) | |
| 1 | g.244054803T>A | CA345674215 | ZBTB18 | c.*206T>A (n.*206T>A) c.1002T>A (p.Asp334Glu) c.*959T>A (n.*959T>A) c.1029T>A (p.Asp343Glu) | |
| 1 | g.244054803T>C | CA424410392 | ZBTB18 | c.*206T>C (n.*206T>C) c.1002T>C (p.Asp334=) c.*959T>C (n.*959T>C) c.1029T>C (p.Asp343=) | |
| 1 | g.244054803T>G | CA345674216 | ZBTB18 | c.*206T>G (n.*206T>G) c.1002T>G (p.Asp334Glu) c.*959T>G (n.*959T>G) c.1029T>G (p.Asp343Glu) | |
| 1 | g.244054803_244054808delinsTGATGA | CA1230659857 | ZBTB18 | c.*206_*211delinsTGATGA (n.*206_*211delinsTGATGA) c.1002_1007delinsTGATGA (p.Asp334=) c.*959_*964delinsTGATGA (n.*959_*964delinsTGATGA) c.1029_1034delinsTGATGA (p.Asp343=) | |
| 1 | g.244054804G>A | CA345674217 | ZBTB18 | c.*207G>A (n.*207G>A) c.1003G>A (p.Asp335Asn) c.*960G>A (n.*960G>A) c.1030G>A (p.Asp344Asn) | |
| 1 | g.244054804G>C | CA345674218 | ZBTB18 | c.*207G>C (n.*207G>C) c.1003G>C (p.Asp335His) c.*960G>C (n.*960G>C) c.1030G>C (p.Asp344His) | |
| 1 | g.244054804G>T | CA345674219 | ZBTB18 | c.*207G>T (n.*207G>T) c.1003G>T (p.Asp335Tyr) c.*960G>T (n.*960G>T) c.1030G>T (p.Asp344Tyr) | |
| 1 | g.244054809_244054813del | CA658795667 | ZBTB18 | c.*212_*216del (n.*212_*216del) c.1008_1012del (p.Glu336AspfsTer?) c.*965_*969del (n.*965_*969del) c.1035_1039del (p.Glu345AspfsTer?) | ClinVar dbSNP |
| 1 | g.244054805A= | CA1230659858 | ZBTB18 | c.*208A= (n.*208A=) c.1004A= (p.Asp335=) c.*961A= (n.*961A=) c.1031A= (p.Asp344=) | |
| 1 | g.244054805A>C | CA345674220 | ZBTB18 | c.*208A>C (n.*208A>C) c.1004A>C (p.Asp335Ala) c.*961A>C (n.*961A>C) c.1031A>C (p.Asp344Ala) | |
| 1 | g.244054805A>G | CA345674221 | ZBTB18 | c.*208A>G (n.*208A>G) c.1004A>G (p.Asp335Gly) c.*961A>G (n.*961A>G) c.1031A>G (p.Asp344Gly) | |
| 1 | g.244054805A>T | CA1484379 | ZBTB18 | c.*208A>T (n.*208A>T) c.1004A>T (p.Asp335Val) c.*961A>T (n.*961A>T) c.1031A>T (p.Asp344Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054806T>A | CA345674222 | ZBTB18 | c.*209T>A (n.*209T>A) c.1005T>A (p.Asp335Glu) c.*962T>A (n.*962T>A) c.1032T>A (p.Asp344Glu) | |
| 1 | g.244054806T>C | CA424410399 | ZBTB18 | c.*209T>C (n.*209T>C) c.1005T>C (p.Asp335=) c.*962T>C (n.*962T>C) c.1032T>C (p.Asp344=) | gnomAD v4 |
| 1 | g.244054806T>G | CA345674223 | ZBTB18 | c.*209T>G (n.*209T>G) c.1005T>G (p.Asp335Glu) c.*962T>G (n.*962T>G) c.1032T>G (p.Asp344Glu) | gnomAD v4 |
| 1 | g.244054807G>A | CA345674226 | ZBTB18 | c.*210G>A (n.*210G>A) c.1006G>A (p.Glu336Lys) c.*963G>A (n.*963G>A) c.1033G>A (p.Glu345Lys) | |
| 1 | g.244054807G>C | CA345674225 | ZBTB18 | c.*210G>C (n.*210G>C) c.1006G>C (p.Glu336Gln) c.*963G>C (n.*963G>C) c.1033G>C (p.Glu345Gln) | |
| 1 | g.244054807G>T | CA345674224 | ZBTB18 | c.*210G>T (n.*210G>T) c.1006G>T (p.Glu336Ter) c.*963G>T (n.*963G>T) c.1033G>T (p.Glu345Ter) | gnomAD v4 |
| 1 | g.244054808A>C | CA345674227 | ZBTB18 | c.*211A>C (n.*211A>C) c.1007A>C (p.Glu336Ala) c.*964A>C (n.*964A>C) c.1034A>C (p.Glu345Ala) | |
| 1 | g.244054808A>G | CA345674228 | ZBTB18 | c.*211A>G (n.*211A>G) c.1007A>G (p.Glu336Gly) c.*964A>G (n.*964A>G) c.1034A>G (p.Glu345Gly) | |
| 1 | g.244054808A>T | CA345674229 | ZBTB18 | c.*211A>T (n.*211A>T) c.1007A>T (p.Glu336Val) c.*964A>T (n.*964A>T) c.1034A>T (p.Glu345Val) | |
| 1 | g.244054808_244054811delinsAGAT | CA1230659859 | ZBTB18 | c.*211_*214delinsAGAT (n.*211_*214delinsAGAT) c.1007_1010delinsAGAT (p.Glu336=) c.*964_*967delinsAGAT (n.*964_*967delinsAGAT) c.1034_1037delinsAGAT (p.Glu345=) | |
| 1 | g.244054809G>A | CA424410402 | ZBTB18 | c.*212G>A (n.*212G>A) c.1008G>A (p.Glu336=) c.*965G>A (n.*965G>A) c.1035G>A (p.Glu345=) | |
| 1 | g.244054809G>C | CA345674230 | ZBTB18 | c.*212G>C (n.*212G>C) c.1008G>C (p.Glu336Asp) c.*965G>C (n.*965G>C) c.1035G>C (p.Glu345Asp) | |
| 1 | g.244054809G= | CA1230659860 | ZBTB18 | c.*212G= (n.*212G=) c.1008G= (p.Glu336=) c.*965G= (n.*965G=) c.1035G= (p.Glu345=) | |
| 1 | g.244054809G>T | CA345674231 | ZBTB18 | c.*212G>T (n.*212G>T) c.1008G>T (p.Glu336Asp) c.*965G>T (n.*965G>T) c.1035G>T (p.Glu345Asp) | dbSNP gnomAD v4 |
| 1 | g.244054814_244054816del | CA530384443 | ZBTB18 | c.*217_*219del (n.*217_*219del) c.1013_1015del (p.Met338del) c.*970_*972del (n.*970_*972del) c.1040_1042del (p.Met347del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054810A>C | CA345674232 | ZBTB18 | c.*213A>C (n.*213A>C) c.1009A>C (p.Met337Leu) c.*966A>C (n.*966A>C) c.1036A>C (p.Met346Leu) | |
| 1 | g.244054810A>G | CA345674233 | ZBTB18 | c.*213A>G (n.*213A>G) c.1009A>G (p.Met337Val) c.*966A>G (n.*966A>G) c.1036A>G (p.Met346Val) | |
| 1 | g.244054810A>T | CA345674234 | ZBTB18 | c.*213A>T (n.*213A>T) c.1009A>T (p.Met337Leu) c.*966A>T (n.*966A>T) c.1036A>T (p.Met346Leu) | |
| 1 | g.244054811T>A | CA345674235 | ZBTB18 | c.*214T>A (n.*214T>A) c.1010T>A (p.Met337Lys) c.*967T>A (n.*967T>A) c.1037T>A (p.Met346Lys) | |
| 1 | g.244054811T>C | CA345674236 | ZBTB18 | c.*214T>C (n.*214T>C) c.1010T>C (p.Met337Thr) c.*967T>C (n.*967T>C) c.1037T>C (p.Met346Thr) | |
| 1 | g.244054811T>G | CA345674237 | ZBTB18 | c.*214T>G (n.*214T>G) c.1010T>G (p.Met337Arg) c.*967T>G (n.*967T>G) c.1037T>G (p.Met346Arg) | |
| 1 | g.244054812G>A | CA345674238 | ZBTB18 | c.*215G>A (n.*215G>A) c.1011G>A (p.Met337Ile) c.*968G>A (n.*968G>A) c.1038G>A (p.Met346Ile) | COSMIC COSMIC |
| 1 | g.244054812G>C | CA345674239 | ZBTB18 | c.*215G>C (n.*215G>C) c.1011G>C (p.Met337Ile) c.*968G>C (n.*968G>C) c.1038G>C (p.Met346Ile) | gnomAD v4 |
| 1 | g.244054812G>T | CA345674240 | ZBTB18 | c.*215G>T (n.*215G>T) c.1011G>T (p.Met337Ile) c.*968G>T (n.*968G>T) c.1038G>T (p.Met346Ile) | |
| 1 | g.244054813A= | CA1230659861 | ZBTB18 | c.*216A= (n.*216A=) c.1012A= (p.Met338=) c.*969A= (n.*969A=) c.1039A= (p.Met347=) | |
| 1 | g.244054813A>C | CA345674242 | ZBTB18 | c.*216A>C (n.*216A>C) c.1012A>C (p.Met338Leu) c.*969A>C (n.*969A>C) c.1039A>C (p.Met347Leu) | dbSNP gnomAD v4 |
| 1 | g.244054813A>G | CA345674243 | ZBTB18 | c.*216A>G (n.*216A>G) c.1012A>G (p.Met338Val) c.*969A>G (n.*969A>G) c.1039A>G (p.Met347Val) | |
| 1 | g.244054813A>T | CA345674241 | ZBTB18 | c.*216A>T (n.*216A>T) c.1012A>T (p.Met338Leu) c.*969A>T (n.*969A>T) c.1039A>T (p.Met347Leu) | |
| 1 | g.244054814T>A | CA345674244 | ZBTB18 | c.*217T>A (n.*217T>A) c.1013T>A (p.Met338Lys) c.*970T>A (n.*970T>A) c.1040T>A (p.Met347Lys) | dbSNP |
| 1 | g.244054814T>C | CA345674245 | ZBTB18 | c.*217T>C (n.*217T>C) c.1013T>C (p.Met338Thr) c.*970T>C (n.*970T>C) c.1040T>C (p.Met347Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054814T>G | CA345674246 | ZBTB18 | c.*217T>G (n.*217T>G) c.1013T>G (p.Met338Arg) c.*970T>G (n.*970T>G) c.1040T>G (p.Met347Arg) | |
| 1 | g.244054814T= | CA1230659862 | ZBTB18 | c.*217T= (n.*217T=) c.1013T= (p.Met338=) c.*970T= (n.*970T=) c.1040T= (p.Met347=) | |
| 1 | g.244054815G>A | CA345674247 | ZBTB18 | c.*218G>A (n.*218G>A) c.1014G>A (p.Met338Ile) c.*971G>A (n.*971G>A) c.1041G>A (p.Met347Ile) | gnomAD v4 |
| 1 | g.244054815G>C | CA345674248 | ZBTB18 | c.*218G>C (n.*218G>C) c.1014G>C (p.Met338Ile) c.*971G>C (n.*971G>C) c.1041G>C (p.Met347Ile) | |
| 1 | g.244054815G>T | CA345674249 | ZBTB18 | c.*218G>T (n.*218G>T) c.1014G>T (p.Met338Ile) c.*971G>T (n.*971G>T) c.1041G>T (p.Met347Ile) | gnomAD v4 |
| 1 | g.244054816A= | CA1230659863 | ZBTB18 | c.*219A= (n.*219A=) c.1015A= (p.Thr339=) c.*972A= (n.*972A=) c.1042A= (p.Thr348=) | |
| 1 | g.244054816A>C | CA345674250 | ZBTB18 | c.*219A>C (n.*219A>C) c.1015A>C (p.Thr339Pro) c.*972A>C (n.*972A>C) c.1042A>C (p.Thr348Pro) | |
| 1 | g.244054816A>G | CA345674251 | ZBTB18 | c.*219A>G (n.*219A>G) c.1015A>G (p.Thr339Ala) c.*972A>G (n.*972A>G) c.1042A>G (p.Thr348Ala) | |
| 1 | g.244054816A>T | CA1484380 | ZBTB18 | c.*219A>T (n.*219A>T) c.1015A>T (p.Thr339Ser) c.*972A>T (n.*972A>T) c.1042A>T (p.Thr348Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054817C>A | CA345674252 | ZBTB18 | c.*220C>A (n.*220C>A) c.1016C>A (p.Thr339Asn) c.*973C>A (n.*973C>A) c.1043C>A (p.Thr348Asn) | dbSNP gnomAD v2 |
| 1 | g.244054817C= | CA1230659864 | ZBTB18 | c.*220C= (n.*220C=) c.1016C= (p.Thr339=) c.*973C= (n.*973C=) c.1043C= (p.Thr348=) | |
| 1 | g.244054817C>G | CA345674253 | ZBTB18 | c.*220C>G (n.*220C>G) c.1016C>G (p.Thr339Ser) c.*973C>G (n.*973C>G) c.1043C>G (p.Thr348Ser) | |
| 1 | g.244054817C>T | CA1484381 | ZBTB18 | c.*220C>T (n.*220C>T) c.1016C>T (p.Thr339Ile) c.*973C>T (n.*973C>T) c.1043C>T (p.Thr348Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244054820dup | CA658764561 | ZBTB18 | c.*223dup (n.*223dup) c.1019dup (p.Glu341ArgfsTer?) c.*976dup (n.*976dup) c.1046dup (p.Glu350ArgfsTer?) | |
| 1 | g.244054818C>A | CA424410415 | ZBTB18 | c.*221C>A (n.*221C>A) c.1017C>A (p.Thr339=) c.*974C>A (n.*974C>A) c.1044C>A (p.Thr348=) | |
| 1 | g.244054818C>G | CA424410416 | ZBTB18 | c.*221C>G (n.*221C>G) c.1017C>G (p.Thr339=) c.*974C>G (n.*974C>G) c.1044C>G (p.Thr348=) | |
| 1 | g.244054818C>T | CA424410417 | ZBTB18 | c.*221C>T (n.*221C>T) c.1017C>T (p.Thr339=) c.*974C>T (n.*974C>T) c.1044C>T (p.Thr348=) | |
| 1 | g.244054819C>A | CA345674255 | ZBTB18 | c.*222C>A (n.*222C>A) c.1018C>A (p.Pro340Thr) c.*975C>A (n.*975C>A) c.1045C>A (p.Pro349Thr) | |
| 1 | g.244054819C= | CA1143363311 | ZBTB18 | c.*222C= (n.*222C=) c.1018C= (p.Pro340=) c.*975C= (n.*975C=) c.1045C= (p.Pro349=) | |
| 1 | g.244054819C>G | CA345674254 | ZBTB18 | c.*222C>G (n.*222C>G) c.1018C>G (p.Pro340Ala) c.*975C>G (n.*975C>G) c.1045C>G (p.Pro349Ala) | |
| 1 | g.244054819C>T | CA1484382 | ZBTB18 | c.*222C>T (n.*222C>T) c.1018C>T (p.Pro340Ser) c.*975C>T (n.*975C>T) c.1045C>T (p.Pro349Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054820C>A | CA345674256 | ZBTB18 | c.*223C>A (n.*223C>A) c.1019C>A (p.Pro340Gln) c.*976C>A (n.*976C>A) c.1046C>A (p.Pro349Gln) | gnomAD v4 |
| 1 | g.244054820C= | CA1230659865 | ZBTB18 | c.*223C= (n.*223C=) c.1019C= (p.Pro340=) c.*976C= (n.*976C=) c.1046C= (p.Pro349=) | |
| 1 | g.244054820C>G | CA345674257 | ZBTB18 | c.*223C>G (n.*223C>G) c.1019C>G (p.Pro340Arg) c.*976C>G (n.*976C>G) c.1046C>G (p.Pro349Arg) | |
| 1 | g.244054820C>T | CA1484383 | ZBTB18 | c.*223C>T (n.*223C>T) c.1019C>T (p.Pro340Leu) c.*976C>T (n.*976C>T) c.1046C>T (p.Pro349Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054821A>C | CA424410423 | ZBTB18 | c.*224A>C (n.*224A>C) c.1020A>C (p.Pro340=) c.*977A>C (n.*977A>C) c.1047A>C (p.Pro349=) | |
| 1 | g.244054821A>G | CA424410426 | ZBTB18 | c.*224A>G (n.*224A>G) c.1020A>G (p.Pro340=) c.*977A>G (n.*977A>G) c.1047A>G (p.Pro349=) | |
| 1 | g.244054821A>T | CA424410425 | ZBTB18 | c.*224A>T (n.*224A>T) c.1020A>T (p.Pro340=) c.*977A>T (n.*977A>T) c.1047A>T (p.Pro349=) | |
| 1 | g.244054822G>A | CA345674258 | ZBTB18 | c.*225G>A (n.*225G>A) c.1021G>A (p.Glu341Lys) c.*978G>A (n.*978G>A) c.1048G>A (p.Glu350Lys) | |
| 1 | g.244054822G>C | CA345674259 | ZBTB18 | c.*225G>C (n.*225G>C) c.1021G>C (p.Glu341Gln) c.*978G>C (n.*978G>C) c.1048G>C (p.Glu350Gln) | |
| 1 | g.244054822G>T | CA345674260 | ZBTB18 | c.*225G>T (n.*225G>T) c.1021G>T (p.Glu341Ter) c.*978G>T (n.*978G>T) c.1048G>T (p.Glu350Ter) | |
| 1 | g.244054823A= | CA1230659866 | ZBTB18 | c.*226A= (n.*226A=) c.1022A= (p.Glu341=) c.*979A= (n.*979A=) c.1049A= (p.Glu350=) | |
| 1 | g.244054823A>C | CA345674261 | ZBTB18 | c.*226A>C (n.*226A>C) c.1022A>C (p.Glu341Ala) c.*979A>C (n.*979A>C) c.1049A>C (p.Glu350Ala) | |
| 1 | g.244054823A>G | CA345674262 | ZBTB18 | c.*226A>G (n.*226A>G) c.1022A>G (p.Glu341Gly) c.*979A>G (n.*979A>G) c.1049A>G (p.Glu350Gly) | dbSNP |
| 1 | g.244054823A>T | CA345674263 | ZBTB18 | c.*226A>T (n.*226A>T) c.1022A>T (p.Glu341Val) c.*979A>T (n.*979A>T) c.1049A>T (p.Glu350Val) | |
| 1 | g.244054824G>A | CA424410428 | ZBTB18 | c.*227G>A (n.*227G>A) c.1023G>A (p.Glu341=) c.*980G>A (n.*980G>A) c.1050G>A (p.Glu350=) | |
| 1 | g.244054824G>C | CA345674264 | ZBTB18 | c.*227G>C (n.*227G>C) c.1023G>C (p.Glu341Asp) c.*980G>C (n.*980G>C) c.1050G>C (p.Glu350Asp) | |
| 1 | g.244054824G>T | CA345674265 | ZBTB18 | c.*227G>T (n.*227G>T) c.1023G>T (p.Glu341Asp) c.*980G>T (n.*980G>T) c.1050G>T (p.Glu350Asp) | |
| 1 | g.244054825A>C | CA345674268 | ZBTB18 | c.*228A>C (n.*228A>C) c.1024A>C (p.Ser342Arg) c.*981A>C (n.*981A>C) c.1051A>C (p.Ser351Arg) | |
| 1 | g.244054825A>G | CA345674267 | ZBTB18 | c.*228A>G (n.*228A>G) c.1024A>G (p.Ser342Gly) c.*981A>G (n.*981A>G) c.1051A>G (p.Ser351Gly) | |
| 1 | g.244054825A>T | CA345674266 | ZBTB18 | c.*228A>T (n.*228A>T) c.1024A>T (p.Ser342Cys) c.*981A>T (n.*981A>T) c.1051A>T (p.Ser351Cys) | |
| 1 | g.244054826G>A | CA345674269 | ZBTB18 | c.*229G>A (n.*229G>A) c.1025G>A (p.Ser342Asn) c.*982G>A (n.*982G>A) c.1052G>A (p.Ser351Asn) | |
| 1 | g.244054826G>C | CA345674271 | ZBTB18 | c.*229G>C (n.*229G>C) c.1025G>C (p.Ser342Thr) c.*982G>C (n.*982G>C) c.1052G>C (p.Ser351Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244054826G= | CA1230659867 | ZBTB18 | c.*229G= (n.*229G=) c.1025G= (p.Ser342=) c.*982G= (n.*982G=) c.1052G= (p.Ser351=) | |
| 1 | g.244054826G>T | CA345674270 | ZBTB18 | c.*229G>T (n.*229G>T) c.1025G>T (p.Ser342Ile) c.*982G>T (n.*982G>T) c.1052G>T (p.Ser351Ile) | gnomAD v4 |
| 1 | g.244054827C>A | CA345674272 | ZBTB18 | c.*230C>A (n.*230C>A) c.1026C>A (p.Ser342Arg) c.*983C>A (n.*983C>A) c.1053C>A (p.Ser351Arg) | |
| 1 | g.244054827C= | CA1230659868 | ZBTB18 | c.*230C= (n.*230C=) c.1026C= (p.Ser342=) c.*983C= (n.*983C=) c.1053C= (p.Ser351=) | |
| 1 | g.244054827C>G | CA345674273 | ZBTB18 | c.*230C>G (n.*230C>G) c.1026C>G (p.Ser342Arg) c.*983C>G (n.*983C>G) c.1053C>G (p.Ser351Arg) | |
| 1 | g.244054827C>T | CA41081535 | ZBTB18 | c.*230C>T (n.*230C>T) c.1026C>T (p.Ser342=) c.*983C>T (n.*983C>T) c.1053C>T (p.Ser351=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.244054828G>A | CA345674274 | ZBTB18 | c.*231G>A (n.*231G>A) c.1027G>A (p.Glu343Lys) c.*984G>A (n.*984G>A) c.1054G>A (p.Glu352Lys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.244054828G>C | CA345674275 | ZBTB18 | c.*231G>C (n.*231G>C) c.1027G>C (p.Glu343Gln) c.*984G>C (n.*984G>C) c.1054G>C (p.Glu352Gln) | gnomAD v4 |
| 1 | g.244054828G= | CA1230659869 | ZBTB18 | c.*231G= (n.*231G=) c.1027G= (p.Glu343=) c.*984G= (n.*984G=) c.1054G= (p.Glu352=) | |
| 1 | g.244054828G>T | CA345674276 | ZBTB18 | c.*231G>T (n.*231G>T) c.1027G>T (p.Glu343Ter) c.*984G>T (n.*984G>T) c.1054G>T (p.Glu352Ter) | |
| 1 | g.244054829A>C | CA345674277 | ZBTB18 | c.*232A>C (n.*232A>C) c.1028A>C (p.Glu343Ala) c.*985A>C (n.*985A>C) c.1055A>C (p.Glu352Ala) | |
| 1 | g.244054829A>G | CA345674278 | ZBTB18 | c.*232A>G (n.*232A>G) c.1028A>G (p.Glu343Gly) c.*985A>G (n.*985A>G) c.1055A>G (p.Glu352Gly) | |
| 1 | g.244054829A>T | CA345674279 | ZBTB18 | c.*232A>T (n.*232A>T) c.1028A>T (p.Glu343Val) c.*985A>T (n.*985A>T) c.1055A>T (p.Glu352Val) | |
| 1 | g.244054830G>A | CA424410441 | ZBTB18 | c.*233G>A (n.*233G>A) c.1029G>A (p.Glu343=) c.*986G>A (n.*986G>A) c.1056G>A (p.Glu352=) | dbSNP |
| 1 | g.244054830G>C | CA345674280 | ZBTB18 | c.*233G>C (n.*233G>C) c.1029G>C (p.Glu343Asp) c.*986G>C (n.*986G>C) c.1056G>C (p.Glu352Asp) | |
| 1 | g.244054830G= | CA1230659870 | ZBTB18 | c.*233G= (n.*233G=) c.1029G= (p.Glu343=) c.*986G= (n.*986G=) c.1056G= (p.Glu352=) | |
| 1 | g.244054830G>T | CA345674281 | ZBTB18 | c.*233G>T (n.*233G>T) c.1029G>T (p.Glu343Asp) c.*986G>T (n.*986G>T) c.1056G>T (p.Glu352Asp) | gnomAD v4 |