Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.51788870G>ACA511025676SALL4c.2733C>T (p.Gly911=)
c.402C>T (p.Gly134=)
c.1422C>T (p.Gly474=)
c.2427C>T (p.Gly809=)
c.2607C>T (p.Gly869=)
20g.51788870G>CCA511025677SALL4c.2733C>G (p.Gly911=)
c.402C>G (p.Gly134=)
c.1422C>G (p.Gly474=)
c.2427C>G (p.Gly809=)
c.2607C>G (p.Gly869=)
20g.51788870G>TCA511025678SALL4c.2733C>A (p.Gly911=)
c.402C>A (p.Gly134=)
c.1422C>A (p.Gly474=)
c.2427C>A (p.Gly809=)
c.2607C>A (p.Gly869=)
20g.51788871C>ACA409006456SALL4c.2732G>T (p.Gly911Val)
c.401G>T (p.Gly134Val)
c.1421G>T (p.Gly474Val)
c.2426G>T (p.Gly809Val)
c.2606G>T (p.Gly869Val)
20g.51788871C>GCA409006457SALL4c.2732G>C (p.Gly911Ala)
c.401G>C (p.Gly134Ala)
c.1421G>C (p.Gly474Ala)
c.2426G>C (p.Gly809Ala)
c.2606G>C (p.Gly869Ala)
20g.51788871C>TCA409006455SALL4c.2732G>A (p.Gly911Asp)
c.401G>A (p.Gly134Asp)
c.1421G>A (p.Gly474Asp)
c.2426G>A (p.Gly809Asp)
c.2606G>A (p.Gly869Asp)
20g.51788872C>ACA409006459SALL4c.2731G>T (p.Gly911Cys)
c.400G>T (p.Gly134Cys)
c.1420G>T (p.Gly474Cys)
c.2425G>T (p.Gly809Cys)
c.2605G>T (p.Gly869Cys)
20g.51788872C>GCA409006458SALL4c.2731G>C (p.Gly911Arg)
c.400G>C (p.Gly134Arg)
c.1420G>C (p.Gly474Arg)
c.2425G>C (p.Gly809Arg)
c.2605G>C (p.Gly869Arg)
 gnomAD v4
20g.51788872C>TCA409006460SALL4c.2731G>A (p.Gly911Ser)
c.400G>A (p.Gly134Ser)
c.1420G>A (p.Gly474Ser)
c.2425G>A (p.Gly809Ser)
c.2605G>A (p.Gly869Ser)
20g.51788873T>ACA409006461SALL4c.2730A>T (p.Lys910Asn)
c.399A>T (p.Lys133Asn)
c.1419A>T (p.Lys473Asn)
c.2424A>T (p.Lys808Asn)
c.2604A>T (p.Lys868Asn)
20g.51788873T>CCA511025682SALL4c.2730A>G (p.Lys910=)
c.399A>G (p.Lys133=)
c.1419A>G (p.Lys473=)
c.2424A>G (p.Lys808=)
c.2604A>G (p.Lys868=)
20g.51788873T>GCA409006462SALL4c.2730A>C (p.Lys910Asn)
c.399A>C (p.Lys133Asn)
c.1419A>C (p.Lys473Asn)
c.2424A>C (p.Lys808Asn)
c.2604A>C (p.Lys868Asn)
20g.51788874T>ACA409006463SALL4c.2729A>T (p.Lys910Ile)
c.398A>T (p.Lys133Ile)
c.1418A>T (p.Lys473Ile)
c.2423A>T (p.Lys808Ile)
c.2603A>T (p.Lys868Ile)
20g.51788874T>CCA409006464SALL4c.2729A>G (p.Lys910Arg)
c.398A>G (p.Lys133Arg)
c.1418A>G (p.Lys473Arg)
c.2423A>G (p.Lys808Arg)
c.2603A>G (p.Lys868Arg)
20g.51788874T>GCA409006465SALL4c.2729A>C (p.Lys910Thr)
c.398A>C (p.Lys133Thr)
c.1418A>C (p.Lys473Thr)
c.2423A>C (p.Lys808Thr)
c.2603A>C (p.Lys868Thr)
20g.51788875T>ACA409006466SALL4c.2728A>T (p.Lys910Ter)
c.397A>T (p.Lys133Ter)
c.1417A>T (p.Lys473Ter)
c.2422A>T (p.Lys808Ter)
c.2602A>T (p.Lys868Ter)
20g.51788875T>CCA409006467SALL4c.2728A>G (p.Lys910Glu)
c.397A>G (p.Lys133Glu)
c.1417A>G (p.Lys473Glu)
c.2422A>G (p.Lys808Glu)
c.2602A>G (p.Lys868Glu)
20g.51788875T>GCA409006468SALL4c.2728A>C (p.Lys910Gln)
c.397A>C (p.Lys133Gln)
c.1417A>C (p.Lys473Gln)
c.2422A>C (p.Lys808Gln)
c.2602A>C (p.Lys868Gln)
20g.51788876G>ACA9912029SALL4c.2727C>T (p.Thr909=)
c.396C>T (p.Thr132=)
c.1416C>T (p.Thr472=)
c.2421C>T (p.Thr807=)
c.2601C>T (p.Thr867=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51788876G>CCA511025686SALL4c.2727C>G (p.Thr909=)
c.396C>G (p.Thr132=)
c.1416C>G (p.Thr472=)
c.2421C>G (p.Thr807=)
c.2601C>G (p.Thr867=)
 dbSNP gnomAD v2 gnomAD v4
20g.51788876G=CA2369157322SALL4c.2727C= (p.Thr909=)
c.396C= (p.Thr132=)
c.1416C= (p.Thr472=)
c.2421C= (p.Thr807=)
c.2601C= (p.Thr867=)
20g.51788876G>TCA511025687SALL4c.2727C>A (p.Thr909=)
c.396C>A (p.Thr132=)
c.1416C>A (p.Thr472=)
c.2421C>A (p.Thr807=)
c.2601C>A (p.Thr867=)
20g.51788877G>ACA409006469SALL4c.2726C>T (p.Thr909Ile)
c.395C>T (p.Thr132Ile)
c.1415C>T (p.Thr472Ile)
c.2420C>T (p.Thr807Ile)
c.2600C>T (p.Thr867Ile)
20g.51788877G>CCA409006470SALL4c.2726C>G (p.Thr909Ser)
c.395C>G (p.Thr132Ser)
c.1415C>G (p.Thr472Ser)
c.2420C>G (p.Thr807Ser)
c.2600C>G (p.Thr867Ser)
20g.51788877G>TCA409006471SALL4c.2726C>A (p.Thr909Asn)
c.395C>A (p.Thr132Asn)
c.1415C>A (p.Thr472Asn)
c.2420C>A (p.Thr807Asn)
c.2600C>A (p.Thr867Asn)
20g.51788878T>ACA409006474SALL4c.2725A>T (p.Thr909Ser)
c.394A>T (p.Thr132Ser)
c.1414A>T (p.Thr472Ser)
c.2419A>T (p.Thr807Ser)
c.2599A>T (p.Thr867Ser)
20g.51788878T>CCA409006472SALL4c.2725A>G (p.Thr909Ala)
c.394A>G (p.Thr132Ala)
c.1414A>G (p.Thr472Ala)
c.2419A>G (p.Thr807Ala)
c.2599A>G (p.Thr867Ala)
 gnomAD v4
20g.51788878T>GCA409006473SALL4c.2725A>C (p.Thr909Pro)
c.394A>C (p.Thr132Pro)
c.1414A>C (p.Thr472Pro)
c.2419A>C (p.Thr807Pro)
c.2599A>C (p.Thr867Pro)
20g.51788879G>ACA511025693SALL4c.2724C>T (p.Thr908=)
c.393C>T (p.Thr131=)
c.1413C>T (p.Thr471=)
c.2418C>T (p.Thr806=)
c.2598C>T (p.Thr866=)
 dbSNP gnomAD v2 gnomAD v4
20g.51788879G>CCA511025691SALL4c.2724C>G (p.Thr908=)
c.393C>G (p.Thr131=)
c.1413C>G (p.Thr471=)
c.2418C>G (p.Thr806=)
c.2598C>G (p.Thr866=)
20g.51788879G=CA2369157323SALL4c.2724C= (p.Thr908=)
c.393C= (p.Thr131=)
c.1413C= (p.Thr471=)
c.2418C= (p.Thr806=)
c.2598C= (p.Thr866=)
20g.51788879G>TCA511025692SALL4c.2724C>A (p.Thr908=)
c.393C>A (p.Thr131=)
c.1413C>A (p.Thr471=)
c.2418C>A (p.Thr806=)
c.2598C>A (p.Thr866=)
20g.51788880G>ACA409006475SALL4c.2723C>T (p.Thr908Ile)
c.392C>T (p.Thr131Ile)
c.1412C>T (p.Thr471Ile)
c.2417C>T (p.Thr806Ile)
c.2597C>T (p.Thr866Ile)
 dbSNP
20g.51788880G>CCA409006476SALL4c.2723C>G (p.Thr908Ser)
c.392C>G (p.Thr131Ser)
c.1412C>G (p.Thr471Ser)
c.2417C>G (p.Thr806Ser)
c.2597C>G (p.Thr866Ser)
20g.51788880G=CA2369157324SALL4c.2723C= (p.Thr908=)
c.392C= (p.Thr131=)
c.1412C= (p.Thr471=)
c.2417C= (p.Thr806=)
c.2597C= (p.Thr866=)
20g.51788880G>TCA409006477SALL4c.2723C>A (p.Thr908Asn)
c.392C>A (p.Thr131Asn)
c.1412C>A (p.Thr471Asn)
c.2417C>A (p.Thr806Asn)
c.2597C>A (p.Thr866Asn)
20g.51788881T>ACA409006478SALL4c.2722A>T (p.Thr908Ser)
c.391A>T (p.Thr131Ser)
c.1411A>T (p.Thr471Ser)
c.2416A>T (p.Thr806Ser)
c.2596A>T (p.Thr866Ser)
20g.51788881T>CCA409006479SALL4c.2722A>G (p.Thr908Ala)
c.391A>G (p.Thr131Ala)
c.1411A>G (p.Thr471Ala)
c.2416A>G (p.Thr806Ala)
c.2596A>G (p.Thr866Ala)
20g.51788881T>GCA409006480SALL4c.2722A>C (p.Thr908Pro)
c.391A>C (p.Thr131Pro)
c.1411A>C (p.Thr471Pro)
c.2416A>C (p.Thr806Pro)
c.2596A>C (p.Thr866Pro)
20g.51788882A>CCA409006481SALL4c.2721T>G (p.Phe907Leu)
c.390T>G (p.Phe130Leu)
c.1410T>G (p.Phe470Leu)
c.2415T>G (p.Phe805Leu)
c.2595T>G (p.Phe865Leu)
20g.51788882A>GCA511025699SALL4c.2721T>C (p.Phe907=)
c.390T>C (p.Phe130=)
c.1410T>C (p.Phe470=)
c.2415T>C (p.Phe805=)
c.2595T>C (p.Phe865=)
20g.51788882A>TCA409006482SALL4c.2721T>A (p.Phe907Leu)
c.390T>A (p.Phe130Leu)
c.1410T>A (p.Phe470Leu)
c.2415T>A (p.Phe805Leu)
c.2595T>A (p.Phe865Leu)
20g.51788883A>CCA409006483SALL4c.2720T>G (p.Phe907Cys)
c.389T>G (p.Phe130Cys)
c.1409T>G (p.Phe470Cys)
c.2414T>G (p.Phe805Cys)
c.2594T>G (p.Phe865Cys)
20g.51788883A>GCA409006484SALL4c.2720T>C (p.Phe907Ser)
c.389T>C (p.Phe130Ser)
c.1409T>C (p.Phe470Ser)
c.2414T>C (p.Phe805Ser)
c.2594T>C (p.Phe865Ser)
20g.51788883A>TCA409006485SALL4c.2720T>A (p.Phe907Tyr)
c.389T>A (p.Phe130Tyr)
c.1409T>A (p.Phe470Tyr)
c.2414T>A (p.Phe805Tyr)
c.2594T>A (p.Phe865Tyr)
20g.51788884A>CCA409006487SALL4c.2719T>G (p.Phe907Val)
c.388T>G (p.Phe130Val)
c.1408T>G (p.Phe470Val)
c.2413T>G (p.Phe805Val)
c.2593T>G (p.Phe865Val)
20g.51788884A>GCA409006488SALL4c.2719T>C (p.Phe907Leu)
c.388T>C (p.Phe130Leu)
c.1408T>C (p.Phe470Leu)
c.2413T>C (p.Phe805Leu)
c.2593T>C (p.Phe865Leu)
20g.51788884A>TCA409006486SALL4c.2719T>A (p.Phe907Ile)
c.388T>A (p.Phe130Ile)
c.1408T>A (p.Phe470Ile)
c.2413T>A (p.Phe805Ile)
c.2593T>A (p.Phe865Ile)
20g.51788885A>CCA511025702SALL4c.2718T>G (p.Ala906=)
c.387T>G (p.Ala129=)
c.1407T>G (p.Ala469=)
c.2412T>G (p.Ala804=)
c.2592T>G (p.Ala864=)
20g.51788885A>GCA511025703SALL4c.2718T>C (p.Ala906=)
c.387T>C (p.Ala129=)
c.1407T>C (p.Ala469=)
c.2412T>C (p.Ala804=)
c.2592T>C (p.Ala864=)
20g.51788885A>TCA511025704SALL4c.2718T>A (p.Ala906=)
c.387T>A (p.Ala129=)
c.1407T>A (p.Ala469=)
c.2412T>A (p.Ala804=)
c.2592T>A (p.Ala864=)
20g.51788886G>ACA409006489SALL4c.2717C>T (p.Ala906Val)
c.386C>T (p.Ala129Val)
c.1406C>T (p.Ala469Val)
c.2411C>T (p.Ala804Val)
c.2591C>T (p.Ala864Val)
20g.51788886G>CCA409006490SALL4c.2717C>G (p.Ala906Gly)
c.386C>G (p.Ala129Gly)
c.1406C>G (p.Ala469Gly)
c.2411C>G (p.Ala804Gly)
c.2591C>G (p.Ala864Gly)
 dbSNP gnomAD v3 gnomAD v4
20g.51788886G=CA2369157325SALL4c.2717C= (p.Ala906=)
c.386C= (p.Ala129=)
c.1406C= (p.Ala469=)
c.2411C= (p.Ala804=)
c.2591C= (p.Ala864=)
20g.51788886G>TCA409006491SALL4c.2717C>A (p.Ala906Asp)
c.386C>A (p.Ala129Asp)
c.1406C>A (p.Ala469Asp)
c.2411C>A (p.Ala804Asp)
c.2591C>A (p.Ala864Asp)
 dbSNP gnomAD v3 gnomAD v4
20g.51788887C>ACA409006492SALL4c.2716G>T (p.Ala906Ser)
c.385G>T (p.Ala129Ser)
c.1405G>T (p.Ala469Ser)
c.2410G>T (p.Ala804Ser)
c.2590G>T (p.Ala864Ser)
20g.51788887C>GCA409006493SALL4c.2716G>C (p.Ala906Pro)
c.385G>C (p.Ala129Pro)
c.1405G>C (p.Ala469Pro)
c.2410G>C (p.Ala804Pro)
c.2590G>C (p.Ala864Pro)
20g.51788887C>TCA409006494SALL4c.2716G>A (p.Ala906Thr)
c.385G>A (p.Ala129Thr)
c.1405G>A (p.Ala469Thr)
c.2410G>A (p.Ala804Thr)
c.2590G>A (p.Ala864Thr)
 gnomAD v4 COSMIC
20g.51788888T>ACA511025709SALL4c.2715A>T (p.Arg905=)
c.384A>T (p.Arg128=)
c.1404A>T (p.Arg468=)
c.2409A>T (p.Arg803=)
c.2589A>T (p.Arg863=)
 gnomAD v4
20g.51788888T>CCA511025710SALL4c.2715A>G (p.Arg905=)
c.384A>G (p.Arg128=)
c.1404A>G (p.Arg468=)
c.2409A>G (p.Arg803=)
c.2589A>G (p.Arg863=)
20g.51788888T>GCA511025711SALL4c.2715A>C (p.Arg905=)
c.384A>C (p.Arg128=)
c.1404A>C (p.Arg468=)
c.2409A>C (p.Arg803=)
c.2589A>C (p.Arg863=)
 gnomAD v4
20g.51788889C>ACA409006497SALL4c.2714G>T (p.Arg905Leu)
c.383G>T (p.Arg128Leu)
c.1403G>T (p.Arg468Leu)
c.2408G>T (p.Arg803Leu)
c.2588G>T (p.Arg863Leu)
20g.51788889C>GCA409006495SALL4c.2714G>C (p.Arg905Pro)
c.383G>C (p.Arg128Pro)
c.1403G>C (p.Arg468Pro)
c.2408G>C (p.Arg803Pro)
c.2588G>C (p.Arg863Pro)
20g.51788889C>TCA409006496SALL4c.2714G>A (p.Arg905Gln)
c.383G>A (p.Arg128Gln)
c.1403G>A (p.Arg468Gln)
c.2408G>A (p.Arg803Gln)
c.2588G>A (p.Arg863Gln)
20g.51788890G>ACA340059SALL4c.2713C>T (p.Arg905Ter)
c.382C>T (p.Arg128Ter)
c.1402C>T (p.Arg468Ter)
c.2407C>T (p.Arg803Ter)
c.2587C>T (p.Arg863Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.51788890G>CCA409006498SALL4c.2713C>G (p.Arg905Gly)
c.382C>G (p.Arg128Gly)
c.1402C>G (p.Arg468Gly)
c.2407C>G (p.Arg803Gly)
c.2587C>G (p.Arg863Gly)
20g.51788890G=CA2369157326SALL4c.2713C= (p.Arg905=)
c.382C= (p.Arg128=)
c.1402C= (p.Arg468=)
c.2407C= (p.Arg803=)
c.2587C= (p.Arg863=)
20g.51788890G>TCA511025713SALL4c.2713C>A (p.Arg905=)
c.382C>A (p.Arg128=)
c.1402C>A (p.Arg468=)
c.2407C>A (p.Arg803=)
c.2587C>A (p.Arg863=)
20g.51788891C>ACA511025716SALL4c.2712G>T (p.Gly904=)
c.381G>T (p.Gly127=)
c.1401G>T (p.Gly467=)
c.2406G>T (p.Gly802=)
c.2586G>T (p.Gly862=)
20g.51788891C=CA2369157327SALL4c.2712G= (p.Gly904=)
c.381G= (p.Gly127=)
c.1401G= (p.Gly467=)
c.2406G= (p.Gly802=)
c.2586G= (p.Gly862=)
20g.51788891C>GCA511025718SALL4c.2712G>C (p.Gly904=)
c.381G>C (p.Gly127=)
c.1401G>C (p.Gly467=)
c.2406G>C (p.Gly802=)
c.2586G>C (p.Gly862=)
20g.51788891C>TCA511025719SALL4c.2712G>A (p.Gly904=)
c.381G>A (p.Gly127=)
c.1401G>A (p.Gly467=)
c.2406G>A (p.Gly802=)
c.2586G>A (p.Gly862=)
 dbSNP
20g.51788892C>ACA409006499SALL4c.2711G>T (p.Gly904Val)
c.380G>T (p.Gly127Val)
c.1400G>T (p.Gly467Val)
c.2405G>T (p.Gly802Val)
c.2585G>T (p.Gly862Val)
20g.51788892C=CA2369157328SALL4c.2711G= (p.Gly904=)
c.380G= (p.Gly127=)
c.1400G= (p.Gly467=)
c.2405G= (p.Gly802=)
c.2585G= (p.Gly862=)
20g.51788892C>GCA409006500SALL4c.2711G>C (p.Gly904Ala)
c.380G>C (p.Gly127Ala)
c.1400G>C (p.Gly467Ala)
c.2405G>C (p.Gly802Ala)
c.2585G>C (p.Gly862Ala)
20g.51788892C>TCA9912030SALL4c.2711G>A (p.Gly904Glu)
c.380G>A (p.Gly127Glu)
c.1400G>A (p.Gly467Glu)
c.2405G>A (p.Gly802Glu)
c.2585G>A (p.Gly862Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51788893C>ACA409006501SALL4c.2710G>T (p.Gly904Trp)
c.379G>T (p.Gly127Trp)
c.1399G>T (p.Gly467Trp)
c.2404G>T (p.Gly802Trp)
c.2584G>T (p.Gly862Trp)
 gnomAD v4
20g.51788893C=CA2369157329SALL4c.2710G= (p.Gly904=)
c.379G= (p.Gly127=)
c.1399G= (p.Gly467=)
c.2404G= (p.Gly802=)
c.2584G= (p.Gly862=)
20g.51788893C>GCA409006503SALL4c.2710G>C (p.Gly904Arg)
c.379G>C (p.Gly127Arg)
c.1399G>C (p.Gly467Arg)
c.2404G>C (p.Gly802Arg)
c.2584G>C (p.Gly862Arg)
20g.51788893C>TCA409006502SALL4c.2710G>A (p.Gly904Arg)
c.379G>A (p.Gly127Arg)
c.1399G>A (p.Gly467Arg)
c.2404G>A (p.Gly802Arg)
c.2584G>A (p.Gly862Arg)
 dbSNP gnomAD v2 gnomAD v4
20g.51788894A>CCA409006504SALL4c.2709T>G (p.Cys903Trp)
c.378T>G (p.Cys126Trp)
c.1398T>G (p.Cys466Trp)
c.2403T>G (p.Cys801Trp)
c.2583T>G (p.Cys861Trp)
20g.51788894A>GCA511025726SALL4c.2709T>C (p.Cys903=)
c.378T>C (p.Cys126=)
c.1398T>C (p.Cys466=)
c.2403T>C (p.Cys801=)
c.2583T>C (p.Cys861=)
20g.51788894A>TCA409006505SALL4c.2709T>A (p.Cys903Ter)
c.378T>A (p.Cys126Ter)
c.1398T>A (p.Cys466Ter)
c.2403T>A (p.Cys801Ter)
c.2583T>A (p.Cys861Ter)
20g.51788895C>ACA409006506SALL4c.2708G>T (p.Cys903Phe)
c.377G>T (p.Cys126Phe)
c.1397G>T (p.Cys466Phe)
c.2402G>T (p.Cys801Phe)
c.2582G>T (p.Cys861Phe)
20g.51788895C>GCA409006507SALL4c.2708G>C (p.Cys903Ser)
c.377G>C (p.Cys126Ser)
c.1397G>C (p.Cys466Ser)
c.2402G>C (p.Cys801Ser)
c.2582G>C (p.Cys861Ser)
20g.51788895C>TCA409006508SALL4c.2708G>A (p.Cys903Tyr)
c.377G>A (p.Cys126Tyr)
c.1397G>A (p.Cys466Tyr)
c.2402G>A (p.Cys801Tyr)
c.2582G>A (p.Cys861Tyr)
 gnomAD v4
20g.51788896A>CCA409006509SALL4c.2707T>G (p.Cys903Gly)
c.376T>G (p.Cys126Gly)
c.1396T>G (p.Cys466Gly)
c.2401T>G (p.Cys801Gly)
c.2581T>G (p.Cys861Gly)
20g.51788896A>GCA409006510SALL4c.2707T>C (p.Cys903Arg)
c.376T>C (p.Cys126Arg)
c.1396T>C (p.Cys466Arg)
c.2401T>C (p.Cys801Arg)
c.2581T>C (p.Cys861Arg)
20g.51788896A>TCA409006511SALL4c.2707T>A (p.Cys903Ser)
c.376T>A (p.Cys126Ser)
c.1396T>A (p.Cys466Ser)
c.2401T>A (p.Cys801Ser)
c.2581T>A (p.Cys861Ser)
20g.51788897A>CCA409006512SALL4c.2706T>G (p.Ile902Met)
c.375T>G (p.Ile125Met)
c.1395T>G (p.Ile465Met)
c.2400T>G (p.Ile800Met)
c.2580T>G (p.Ile860Met)
20g.51788897A>GCA511025730SALL4c.2706T>C (p.Ile902=)
c.375T>C (p.Ile125=)
c.1395T>C (p.Ile465=)
c.2400T>C (p.Ile800=)
c.2580T>C (p.Ile860=)
20g.51788897A>TCA511025733SALL4c.2706T>A (p.Ile902=)
c.375T>A (p.Ile125=)
c.1395T>A (p.Ile465=)
c.2400T>A (p.Ile800=)
c.2580T>A (p.Ile860=)
20g.51788898A=CA2369157330SALL4c.2705T= (p.Ile902=)
c.374T= (p.Ile125=)
c.1394T= (p.Ile465=)
c.2399T= (p.Ile800=)
c.2579T= (p.Ile860=)
20g.51788898A>CCA409006513SALL4c.2705T>G (p.Ile902Ser)
c.374T>G (p.Ile125Ser)
c.1394T>G (p.Ile465Ser)
c.2399T>G (p.Ile800Ser)
c.2579T>G (p.Ile860Ser)
 gnomAD v4
20g.51788898A>GCA409006514SALL4c.2705T>C (p.Ile902Thr)
c.374T>C (p.Ile125Thr)
c.1394T>C (p.Ile465Thr)
c.2399T>C (p.Ile800Thr)
c.2579T>C (p.Ile860Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.51788898A>TCA409006515SALL4c.2705T>A (p.Ile902Asn)
c.374T>A (p.Ile125Asn)
c.1394T>A (p.Ile465Asn)
c.2399T>A (p.Ile800Asn)
c.2579T>A (p.Ile860Asn)
20g.51788899T>ACA409006518SALL4c.2704A>T (p.Ile902Phe)
c.373A>T (p.Ile125Phe)
c.1393A>T (p.Ile465Phe)
c.2398A>T (p.Ile800Phe)
c.2578A>T (p.Ile860Phe)
20g.51788899T>CCA409006517SALL4c.2704A>G (p.Ile902Val)
c.373A>G (p.Ile125Val)
c.1393A>G (p.Ile465Val)
c.2398A>G (p.Ile800Val)
c.2578A>G (p.Ile860Val)
 ClinVar dbSNP
20g.51788899T>GCA409006516SALL4c.2704A>C (p.Ile902Leu)
c.373A>C (p.Ile125Leu)
c.1393A>C (p.Ile465Leu)
c.2398A>C (p.Ile800Leu)
c.2578A>C (p.Ile860Leu)
20g.51788900G>ACA511025736SALL4c.2703C>T (p.Asn901=)
c.372C>T (p.Asn124=)
c.1392C>T (p.Asn464=)
c.2397C>T (p.Asn799=)
c.2577C>T (p.Asn859=)
 gnomAD v4
20g.51788900G>CCA409006520SALL4c.2703C>G (p.Asn901Lys)
c.372C>G (p.Asn124Lys)
c.1392C>G (p.Asn464Lys)
c.2397C>G (p.Asn799Lys)
c.2577C>G (p.Asn859Lys)
20g.51788900G>TCA409006519SALL4c.2703C>A (p.Asn901Lys)
c.372C>A (p.Asn124Lys)
c.1392C>A (p.Asn464Lys)
c.2397C>A (p.Asn799Lys)
c.2577C>A (p.Asn859Lys)
 gnomAD v4
20g.51788901T>ACA409006523SALL4c.2702A>T (p.Asn901Ile)
c.371A>T (p.Asn124Ile)
c.1391A>T (p.Asn464Ile)
c.2396A>T (p.Asn799Ile)
c.2576A>T (p.Asn859Ile)
20g.51788901T>CCA409006521SALL4c.2702A>G (p.Asn901Ser)
c.371A>G (p.Asn124Ser)
c.1391A>G (p.Asn464Ser)
c.2396A>G (p.Asn799Ser)
c.2576A>G (p.Asn859Ser)
20g.51788901T>GCA409006522SALL4c.2702A>C (p.Asn901Thr)
c.371A>C (p.Asn124Thr)
c.1391A>C (p.Asn464Thr)
c.2396A>C (p.Asn799Thr)
c.2576A>C (p.Asn859Thr)
20g.51788902T>ACA409006524SALL4c.2701A>T (p.Asn901Tyr)
c.370A>T (p.Asn124Tyr)
c.1390A>T (p.Asn464Tyr)
c.2395A>T (p.Asn799Tyr)
c.2575A>T (p.Asn859Tyr)
20g.51788902T>CCA315370848SALL4c.2701A>G (p.Asn901Asp)
c.370A>G (p.Asn124Asp)
c.1390A>G (p.Asn464Asp)
c.2395A>G (p.Asn799Asp)
c.2575A>G (p.Asn859Asp)
 dbSNP gnomAD v3 gnomAD v4
20g.51788902T>GCA409006525SALL4c.2701A>C (p.Asn901His)
c.370A>C (p.Asn124His)
c.1390A>C (p.Asn464His)
c.2395A>C (p.Asn799His)
c.2575A>C (p.Asn859His)
20g.51788902T=CA2369157331SALL4c.2701A= (p.Asn901=)
c.370A= (p.Asn124=)
c.1390A= (p.Asn464=)
c.2395A= (p.Asn799=)
c.2575A= (p.Asn859=)
20g.51788903G>ACA511025741SALL4c.2700C>T (p.Cys900=)
c.369C>T (p.Cys123=)
c.1389C>T (p.Cys463=)
c.2394C>T (p.Cys798=)
c.2574C>T (p.Cys858=)
20g.51788903G>CCA409006526SALL4c.2700C>G (p.Cys900Trp)
c.369C>G (p.Cys123Trp)
c.1389C>G (p.Cys463Trp)
c.2394C>G (p.Cys798Trp)
c.2574C>G (p.Cys858Trp)
20g.51788903G>TCA409006527SALL4c.2700C>A (p.Cys900Ter)
c.369C>A (p.Cys123Ter)
c.1389C>A (p.Cys463Ter)
c.2394C>A (p.Cys798Ter)
c.2574C>A (p.Cys858Ter)
20g.51788904C>ACA409006528SALL4c.2699G>T (p.Cys900Phe)
c.368G>T (p.Cys123Phe)
c.1388G>T (p.Cys463Phe)
c.2393G>T (p.Cys798Phe)
c.2573G>T (p.Cys858Phe)
20g.51788904C>GCA409006529SALL4c.2699G>C (p.Cys900Ser)
c.368G>C (p.Cys123Ser)
c.1388G>C (p.Cys463Ser)
c.2393G>C (p.Cys798Ser)
c.2573G>C (p.Cys858Ser)
20g.51788904C>TCA409006530SALL4c.2699G>A (p.Cys900Tyr)
c.368G>A (p.Cys123Tyr)
c.1388G>A (p.Cys463Tyr)
c.2393G>A (p.Cys798Tyr)
c.2573G>A (p.Cys858Tyr)
20g.51788905A>CCA409006531SALL4c.2698T>G (p.Cys900Gly)
c.367T>G (p.Cys123Gly)
c.1387T>G (p.Cys463Gly)
c.2392T>G (p.Cys798Gly)
c.2572T>G (p.Cys858Gly)
20g.51788905A>GCA409006532SALL4c.2698T>C (p.Cys900Arg)
c.367T>C (p.Cys123Arg)
c.1387T>C (p.Cys463Arg)
c.2392T>C (p.Cys798Arg)
c.2572T>C (p.Cys858Arg)
20g.51788905A>TCA409006533SALL4c.2698T>A (p.Cys900Ser)
c.367T>A (p.Cys123Ser)
c.1387T>A (p.Cys463Ser)
c.2392T>A (p.Cys798Ser)
c.2572T>A (p.Cys858Ser)
20g.51788905_51788906insAAACGACCA2816661789SALL4c.2697_2698insGTCGTTT (p.Cys900ValfsTer28)
c.366_367insGTCGTTT (p.Cys123ValfsTer28)
c.1386_1387insGTCGTTT (p.Cys463ValfsTer28)
c.2391_2392insGTCGTTT (p.Cys798ValfsTer28)
c.2571_2572insGTCGTTT (p.Cys858ValfsTer28)
20g.51788906C>ACA511025747SALL4c.2697G>T (p.Val899=)
c.366G>T (p.Val122=)
c.1386G>T (p.Val462=)
c.2391G>T (p.Val797=)
c.2571G>T (p.Val857=)
20g.51788906C=CA2369157332SALL4c.2697G= (p.Val899=)
c.366G= (p.Val122=)
c.1386G= (p.Val462=)
c.2391G= (p.Val797=)
c.2571G= (p.Val857=)
20g.51788906C>GCA511025749SALL4c.2697G>C (p.Val899=)
c.366G>C (p.Val122=)
c.1386G>C (p.Val462=)
c.2391G>C (p.Val797=)
c.2571G>C (p.Val857=)
20g.51788906C>TCA511025752SALL4c.2697G>A (p.Val899=)
c.366G>A (p.Val122=)
c.1386G>A (p.Val462=)
c.2391G>A (p.Val797=)
c.2571G>A (p.Val857=)
 dbSNP gnomAD v2 gnomAD v4
20g.51788907A>CCA409006536SALL4c.2696T>G (p.Val899Gly)
c.365T>G (p.Val122Gly)
c.1385T>G (p.Val462Gly)
c.2390T>G (p.Val797Gly)
c.2570T>G (p.Val857Gly)
20g.51788907A>GCA409006534SALL4c.2696T>C (p.Val899Ala)
c.365T>C (p.Val122Ala)
c.1385T>C (p.Val462Ala)
c.2390T>C (p.Val797Ala)
c.2570T>C (p.Val857Ala)
 gnomAD v4
20g.51788907A>TCA409006535SALL4c.2696T>A (p.Val899Glu)
c.365T>A (p.Val122Glu)
c.1385T>A (p.Val462Glu)
c.2390T>A (p.Val797Glu)
c.2570T>A (p.Val857Glu)
20g.51788907_51788908insTTCCCTGATGCAGCTGACATCTAAATATAGAGAACATCA2816661790SALL4c.2695_2696insATGTTCTCTATATTTAGATGTCAGCTGCATCAGGGAA (p.Val899AspfsTer6)
c.364_365insATGTTCTCTATATTTAGATGTCAGCTGCATCAGGGAA (p.Val122AspfsTer6)
c.1384_1385insATGTTCTCTATATTTAGATGTCAGCTGCATCAGGGAA (p.Val462AspfsTer6)
c.2389_2390insATGTTCTCTATATTTAGATGTCAGCTGCATCAGGGAA (p.Val797AspfsTer6)
c.2569_2570insATGTTCTCTATATTTAGATGTCAGCTGCATCAGGGAA (p.Val857AspfsTer6)
20g.51788908C>ACA409006537SALL4c.2695G>T (p.Val899Leu)
c.364G>T (p.Val122Leu)
c.1384G>T (p.Val462Leu)
c.2389G>T (p.Val797Leu)
c.2569G>T (p.Val857Leu)
20g.51788908C>GCA409006538SALL4c.2695G>C (p.Val899Leu)
c.364G>C (p.Val122Leu)
c.1384G>C (p.Val462Leu)
c.2389G>C (p.Val797Leu)
c.2569G>C (p.Val857Leu)
20g.51788908C>TCA409006539SALL4c.2695G>A (p.Val899Met)
c.364G>A (p.Val122Met)
c.1384G>A (p.Val462Met)
c.2389G>A (p.Val797Met)
c.2569G>A (p.Val857Met)
20g.51788909A=CA2369157333SALL4c.2694T= (p.Phe898=)
c.363T= (p.Phe121=)
c.1383T= (p.Phe461=)
c.2388T= (p.Phe796=)
c.2568T= (p.Phe856=)
20g.51788909A>CCA409006540SALL4c.2694T>G (p.Phe898Leu)
c.363T>G (p.Phe121Leu)
c.1383T>G (p.Phe461Leu)
c.2388T>G (p.Phe796Leu)
c.2568T>G (p.Phe856Leu)
20g.51788909A>GCA511025757SALL4c.2694T>C (p.Phe898=)
c.363T>C (p.Phe121=)
c.1383T>C (p.Phe461=)
c.2388T>C (p.Phe796=)
c.2568T>C (p.Phe856=)
 dbSNP gnomAD v2 gnomAD v4
20g.51788909A>TCA409006541SALL4c.2694T>A (p.Phe898Leu)
c.363T>A (p.Phe121Leu)
c.1383T>A (p.Phe461Leu)
c.2388T>A (p.Phe796Leu)
c.2568T>A (p.Phe856Leu)
20g.51788910A>CCA409006542SALL4c.2693T>G (p.Phe898Cys)
c.362T>G (p.Phe121Cys)
c.1382T>G (p.Phe461Cys)
c.2387T>G (p.Phe796Cys)
c.2567T>G (p.Phe856Cys)
20g.51788910A>GCA409006543SALL4c.2693T>C (p.Phe898Ser)
c.362T>C (p.Phe121Ser)
c.1382T>C (p.Phe461Ser)
c.2387T>C (p.Phe796Ser)
c.2567T>C (p.Phe856Ser)
20g.51788910A>TCA409006544SALL4c.2693T>A (p.Phe898Tyr)
c.362T>A (p.Phe121Tyr)
c.1382T>A (p.Phe461Tyr)
c.2387T>A (p.Phe796Tyr)
c.2567T>A (p.Phe856Tyr)
20g.51788911A>CCA409006545SALL4c.2692T>G (p.Phe898Val)
c.361T>G (p.Phe121Val)
c.1381T>G (p.Phe461Val)
c.2386T>G (p.Phe796Val)
c.2566T>G (p.Phe856Val)
20g.51788911A>GCA409006546SALL4c.2692T>C (p.Phe898Leu)
c.361T>C (p.Phe121Leu)
c.1381T>C (p.Phe461Leu)
c.2386T>C (p.Phe796Leu)
c.2566T>C (p.Phe856Leu)
20g.51788911A>TCA409006547SALL4c.2692T>A (p.Phe898Ile)
c.361T>A (p.Phe121Ile)
c.1381T>A (p.Phe461Ile)
c.2386T>A (p.Phe796Ile)
c.2566T>A (p.Phe856Ile)
20g.51788912A>CCA511025765SALL4c.2691T>G (p.Pro897=)
c.360T>G (p.Pro120=)
c.1380T>G (p.Pro460=)
c.2385T>G (p.Pro795=)
c.2565T>G (p.Pro855=)
20g.51788912A>GCA511025768SALL4c.2691T>C (p.Pro897=)
c.360T>C (p.Pro120=)
c.1380T>C (p.Pro460=)
c.2385T>C (p.Pro795=)
c.2565T>C (p.Pro855=)
20g.51788912A>TCA511025767SALL4c.2691T>A (p.Pro897=)
c.360T>A (p.Pro120=)
c.1380T>A (p.Pro460=)
c.2385T>A (p.Pro795=)
c.2565T>A (p.Pro855=)
20g.51788913G>ACA409006550SALL4c.2690C>T (p.Pro897Leu)
c.359C>T (p.Pro120Leu)
c.1379C>T (p.Pro460Leu)
c.2384C>T (p.Pro795Leu)
c.2564C>T (p.Pro855Leu)
20g.51788913G>CCA409006549SALL4c.2690C>G (p.Pro897Arg)
c.359C>G (p.Pro120Arg)
c.1379C>G (p.Pro460Arg)
c.2384C>G (p.Pro795Arg)
c.2564C>G (p.Pro855Arg)
20g.51788913G>TCA409006548SALL4c.2690C>A (p.Pro897His)
c.359C>A (p.Pro120His)
c.1379C>A (p.Pro460His)
c.2384C>A (p.Pro795His)
c.2564C>A (p.Pro855His)
20g.51788914G>ACA409006551SALL4c.2689C>T (p.Pro897Ser)
c.358C>T (p.Pro120Ser)
c.1378C>T (p.Pro460Ser)
c.2383C>T (p.Pro795Ser)
c.2563C>T (p.Pro855Ser)
20g.51788914G>CCA409006552SALL4c.2689C>G (p.Pro897Ala)
c.358C>G (p.Pro120Ala)
c.1378C>G (p.Pro460Ala)
c.2383C>G (p.Pro795Ala)
c.2563C>G (p.Pro855Ala)
20g.51788914G>TCA409006553SALL4c.2689C>A (p.Pro897Thr)
c.358C>A (p.Pro120Thr)
c.1378C>A (p.Pro460Thr)
c.2383C>A (p.Pro795Thr)
c.2563C>A (p.Pro855Thr)
20g.51788915C>ACA409006554SALL4c.2688G>T (p.Lys896Asn)
c.357G>T (p.Lys119Asn)
c.1377G>T (p.Lys459Asn)
c.2382G>T (p.Lys794Asn)
c.2562G>T (p.Lys854Asn)
20g.51788915C>GCA409006555SALL4c.2688G>C (p.Lys896Asn)
c.357G>C (p.Lys119Asn)
c.1377G>C (p.Lys459Asn)
c.2382G>C (p.Lys794Asn)
c.2562G>C (p.Lys854Asn)
20g.51788915C>TCA511025773SALL4c.2688G>A (p.Lys896=)
c.357G>A (p.Lys119=)
c.1377G>A (p.Lys459=)
c.2382G>A (p.Lys794=)
c.2562G>A (p.Lys854=)
 gnomAD v4
20g.51788916T>ACA409006556SALL4c.2687A>T (p.Lys896Met)
c.356A>T (p.Lys119Met)
c.1376A>T (p.Lys459Met)
c.2381A>T (p.Lys794Met)
c.2561A>T (p.Lys854Met)
20g.51788916T>CCA409006557SALL4c.2687A>G (p.Lys896Arg)
c.356A>G (p.Lys119Arg)
c.1376A>G (p.Lys459Arg)
c.2381A>G (p.Lys794Arg)
c.2561A>G (p.Lys854Arg)
20g.51788916T>GCA409006558SALL4c.2687A>C (p.Lys896Thr)
c.356A>C (p.Lys119Thr)
c.1376A>C (p.Lys459Thr)
c.2381A>C (p.Lys794Thr)
c.2561A>C (p.Lys854Thr)
20g.51788917T>ACA409006559SALL4c.2686A>T (p.Lys896Ter)
c.355A>T (p.Lys119Ter)
c.1375A>T (p.Lys459Ter)
c.2380A>T (p.Lys794Ter)
c.2560A>T (p.Lys854Ter)
20g.51788917T>CCA409006560SALL4c.2686A>G (p.Lys896Glu)
c.355A>G (p.Lys119Glu)
c.1375A>G (p.Lys459Glu)
c.2380A>G (p.Lys794Glu)
c.2560A>G (p.Lys854Glu)
 dbSNP
20g.51788917T>GCA409006561SALL4c.2686A>C (p.Lys896Gln)
c.355A>C (p.Lys119Gln)
c.1375A>C (p.Lys459Gln)
c.2380A>C (p.Lys794Gln)
c.2560A>C (p.Lys854Gln)
20g.51788917T=CA2369157334SALL4c.2686A= (p.Lys896=)
c.355A= (p.Lys119=)
c.1375A= (p.Lys459=)
c.2380A= (p.Lys794=)
c.2560A= (p.Lys854=)
20g.51788918C>ACA409006562SALL4c.2685G>T (p.Glu895Asp)
c.354G>T (p.Glu118Asp)
c.1374G>T (p.Glu458Asp)
c.2379G>T (p.Glu793Asp)
c.2559G>T (p.Glu853Asp)
20g.51788918C>GCA409006563SALL4c.2685G>C (p.Glu895Asp)
c.354G>C (p.Glu118Asp)
c.1374G>C (p.Glu458Asp)
c.2379G>C (p.Glu793Asp)
c.2559G>C (p.Glu853Asp)
20g.51788918C>TCA511025777SALL4c.2685G>A (p.Glu895=)
c.354G>A (p.Glu118=)
c.1374G>A (p.Glu458=)
c.2379G>A (p.Glu793=)
c.2559G>A (p.Glu853=)
20g.51788919T>ACA409006567SALL4c.2684A>T (p.Glu895Val)
c.353A>T (p.Glu118Val)
c.1373A>T (p.Glu458Val)
c.2378A>T (p.Glu793Val)
c.2558A>T (p.Glu853Val)
20g.51788919T>CCA409006564SALL4c.2684A>G (p.Glu895Gly)
c.353A>G (p.Glu118Gly)
c.1373A>G (p.Glu458Gly)
c.2378A>G (p.Glu793Gly)
c.2558A>G (p.Glu853Gly)
20g.51788919T>GCA409006565SALL4c.2684A>C (p.Glu895Ala)
c.353A>C (p.Glu118Ala)
c.1373A>C (p.Glu458Ala)
c.2378A>C (p.Glu793Ala)
c.2558A>C (p.Glu853Ala)
20g.51788920C>ACA409006569SALL4c.2683G>T (p.Glu895Ter)
c.352G>T (p.Glu118Ter)
c.1372G>T (p.Glu458Ter)
c.2377G>T (p.Glu793Ter)
c.2557G>T (p.Glu853Ter)
20g.51788920C>GCA409006570SALL4c.2683G>C (p.Glu895Gln)
c.352G>C (p.Glu118Gln)
c.1372G>C (p.Glu458Gln)
c.2377G>C (p.Glu793Gln)
c.2557G>C (p.Glu853Gln)
20g.51788920C>TCA409006571SALL4c.2683G>A (p.Glu895Lys)
c.352G>A (p.Glu118Lys)
c.1372G>A (p.Glu458Lys)
c.2377G>A (p.Glu793Lys)
c.2557G>A (p.Glu853Lys)
20g.51788921T>ACA511025784SALL4c.2682A>T (p.Gly894=)
c.351A>T (p.Gly117=)
c.1371A>T (p.Gly457=)
c.2376A>T (p.Gly792=)
c.2556A>T (p.Gly852=)
20g.51788921T>CCA511025787SALL4c.2682A>G (p.Gly894=)
c.351A>G (p.Gly117=)
c.1371A>G (p.Gly457=)
c.2376A>G (p.Gly792=)
c.2556A>G (p.Gly852=)
20g.51788921T>GCA511025782SALL4c.2682A>C (p.Gly894=)
c.351A>C (p.Gly117=)
c.1371A>C (p.Gly457=)
c.2376A>C (p.Gly792=)
c.2556A>C (p.Gly852=)
20g.51788922C>ACA409006572SALL4c.2681G>T (p.Gly894Val)
c.350G>T (p.Gly117Val)
c.1370G>T (p.Gly457Val)
c.2375G>T (p.Gly792Val)
c.2555G>T (p.Gly852Val)
 COSMIC
20g.51788922C>GCA409006573SALL4c.2681G>C (p.Gly894Ala)
c.350G>C (p.Gly117Ala)
c.1370G>C (p.Gly457Ala)
c.2375G>C (p.Gly792Ala)
c.2555G>C (p.Gly852Ala)
20g.51788922C>TCA409006574SALL4c.2681G>A (p.Gly894Glu)
c.350G>A (p.Gly117Glu)
c.1370G>A (p.Gly457Glu)
c.2375G>A (p.Gly792Glu)
c.2555G>A (p.Gly852Glu)
20g.51788923C>ACA409006575SALL4c.2680G>T (p.Gly894Ter)
c.349G>T (p.Gly117Ter)
c.1369G>T (p.Gly457Ter)
c.2374G>T (p.Gly792Ter)
c.2554G>T (p.Gly852Ter)
20g.51788923C>GCA409006576SALL4c.2680G>C (p.Gly894Arg)
c.349G>C (p.Gly117Arg)
c.1369G>C (p.Gly457Arg)
c.2374G>C (p.Gly792Arg)
c.2554G>C (p.Gly852Arg)
20g.51788923C>TCA409006577SALL4c.2680G>A (p.Gly894Arg)
c.349G>A (p.Gly117Arg)
c.1369G>A (p.Gly457Arg)
c.2374G>A (p.Gly792Arg)
c.2554G>A (p.Gly852Arg)
20g.51788924A=CA2369157335SALL4c.2679T= (p.Thr893=)
c.348T= (p.Thr116=)
c.1368T= (p.Thr456=)
c.2373T= (p.Thr791=)
c.2553T= (p.Thr851=)
20g.51788924A>CCA9912031SALL4c.2679T>G (p.Thr893=)
c.348T>G (p.Thr116=)
c.1368T>G (p.Thr456=)
c.2373T>G (p.Thr791=)
c.2553T>G (p.Thr851=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51788924A>GCA511025794SALL4c.2679T>C (p.Thr893=)
c.348T>C (p.Thr116=)
c.1368T>C (p.Thr456=)
c.2373T>C (p.Thr791=)
c.2553T>C (p.Thr851=)
20g.51788924A>TCA511025795SALL4c.2679T>A (p.Thr893=)
c.348T>A (p.Thr116=)
c.1368T>A (p.Thr456=)
c.2373T>A (p.Thr791=)
c.2553T>A (p.Thr851=)
20g.51788925G>ACA409006578SALL4c.2678C>T (p.Thr893Ile)
c.347C>T (p.Thr116Ile)
c.1367C>T (p.Thr456Ile)
c.2372C>T (p.Thr791Ile)
c.2552C>T (p.Thr851Ile)
20g.51788925G>CCA409006579SALL4c.2678C>G (p.Thr893Ser)
c.347C>G (p.Thr116Ser)
c.1367C>G (p.Thr456Ser)
c.2372C>G (p.Thr791Ser)
c.2552C>G (p.Thr851Ser)
20g.51788925G>TCA409006580SALL4c.2678C>A (p.Thr893Asn)
c.347C>A (p.Thr116Asn)
c.1367C>A (p.Thr456Asn)
c.2372C>A (p.Thr791Asn)
c.2552C>A (p.Thr851Asn)
20g.51788926T>ACA409006582SALL4c.2677A>T (p.Thr893Ser)
c.346A>T (p.Thr116Ser)
c.1366A>T (p.Thr456Ser)
c.2371A>T (p.Thr791Ser)
c.2551A>T (p.Thr851Ser)
 gnomAD v4
20g.51788926T>CCA409006583SALL4c.2677A>G (p.Thr893Ala)
c.346A>G (p.Thr116Ala)
c.1366A>G (p.Thr456Ala)
c.2371A>G (p.Thr791Ala)
c.2551A>G (p.Thr851Ala)
 gnomAD v4
20g.51788926T>GCA409006581SALL4c.2677A>C (p.Thr893Pro)
c.346A>C (p.Thr116Pro)
c.1366A>C (p.Thr456Pro)
c.2371A>C (p.Thr791Pro)
c.2551A>C (p.Thr851Pro)
20g.51788927G>ACA511025801SALL4c.2676C>T (p.His892=)
c.345C>T (p.His115=)
c.1365C>T (p.His455=)
c.2370C>T (p.His790=)
c.2550C>T (p.His850=)
 gnomAD v4
20g.51788927G>CCA409006584SALL4c.2676C>G (p.His892Gln)
c.345C>G (p.His115Gln)
c.1365C>G (p.His455Gln)
c.2370C>G (p.His790Gln)
c.2550C>G (p.His850Gln)
20g.51788927G>TCA409006585SALL4c.2676C>A (p.His892Gln)
c.345C>A (p.His115Gln)
c.1365C>A (p.His455Gln)
c.2370C>A (p.His790Gln)
c.2550C>A (p.His850Gln)
20g.51788928T>ACA409006586SALL4c.2675A>T (p.His892Leu)
c.344A>T (p.His115Leu)
c.1364A>T (p.His455Leu)
c.2369A>T (p.His790Leu)
c.2549A>T (p.His850Leu)
20g.51788928T>CCA409006588SALL4c.2675A>G (p.His892Arg)
c.344A>G (p.His115Arg)
c.1364A>G (p.His455Arg)
c.2369A>G (p.His790Arg)
c.2549A>G (p.His850Arg)
20g.51788928T>GCA409006587SALL4c.2675A>C (p.His892Pro)
c.344A>C (p.His115Pro)
c.1364A>C (p.His455Pro)
c.2369A>C (p.His790Pro)
c.2549A>C (p.His850Pro)
20g.51788929G>ACA409006589SALL4c.2674C>T (p.His892Tyr)
c.343C>T (p.His115Tyr)
c.1363C>T (p.His455Tyr)
c.2368C>T (p.His790Tyr)
c.2548C>T (p.His850Tyr)
20g.51788929G>CCA409006590SALL4c.2674C>G (p.His892Asp)
c.343C>G (p.His115Asp)
c.1363C>G (p.His455Asp)
c.2368C>G (p.His790Asp)
c.2548C>G (p.His850Asp)
20g.51788929G>TCA409006591SALL4c.2674C>A (p.His892Asn)
c.343C>A (p.His115Asn)
c.1363C>A (p.His455Asn)
c.2368C>A (p.His790Asn)
c.2548C>A (p.His850Asn)
20g.51788930A=CA2369157336SALL4c.2673T= (p.Thr891=)
c.342T= (p.Thr114=)
c.1362T= (p.Thr454=)
c.2367T= (p.Thr789=)
c.2547T= (p.Thr849=)
20g.51788930A>CCA9912033SALL4c.2673T>G (p.Thr891=)
c.342T>G (p.Thr114=)
c.1362T>G (p.Thr454=)
c.2367T>G (p.Thr789=)
c.2547T>G (p.Thr849=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51788930A>GCA9912032SALL4c.2673T>C (p.Thr891=)
c.342T>C (p.Thr114=)
c.1362T>C (p.Thr454=)
c.2367T>C (p.Thr789=)
c.2547T>C (p.Thr849=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51788930A>TCA511025805SALL4c.2673T>A (p.Thr891=)
c.342T>A (p.Thr114=)
c.1362T>A (p.Thr454=)
c.2367T>A (p.Thr789=)
c.2547T>A (p.Thr849=)
20g.51788931G>ACA315370860SALL4c.2672C>T (p.Thr891Ile)
c.341C>T (p.Thr114Ile)
c.1361C>T (p.Thr454Ile)
c.2366C>T (p.Thr789Ile)
c.2546C>T (p.Thr849Ile)
 dbSNP gnomAD v3 gnomAD v4
20g.51788931G>CCA409006592SALL4c.2672C>G (p.Thr891Ser)
c.341C>G (p.Thr114Ser)
c.1361C>G (p.Thr454Ser)
c.2366C>G (p.Thr789Ser)
c.2546C>G (p.Thr849Ser)
20g.51788931G=CA2369157337SALL4c.2672C= (p.Thr891=)
c.341C= (p.Thr114=)
c.1361C= (p.Thr454=)
c.2366C= (p.Thr789=)
c.2546C= (p.Thr849=)
20g.51788931G>TCA409006593SALL4c.2672C>A (p.Thr891Asn)
c.341C>A (p.Thr114Asn)
c.1361C>A (p.Thr454Asn)
c.2366C>A (p.Thr789Asn)
c.2546C>A (p.Thr849Asn)
20g.51788932T>ACA409006594SALL4c.2671A>T (p.Thr891Ser)
c.340A>T (p.Thr114Ser)
c.1360A>T (p.Thr454Ser)
c.2365A>T (p.Thr789Ser)
c.2545A>T (p.Thr849Ser)
20g.51788932T>CCA409006595SALL4c.2671A>G (p.Thr891Ala)
c.340A>G (p.Thr114Ala)
c.1360A>G (p.Thr454Ala)
c.2365A>G (p.Thr789Ala)
c.2545A>G (p.Thr849Ala)
20g.51788932T>GCA409006596SALL4c.2671A>C (p.Thr891Pro)
c.340A>C (p.Thr114Pro)
c.1360A>C (p.Thr454Pro)
c.2365A>C (p.Thr789Pro)
c.2545A>C (p.Thr849Pro)
20g.51788933C>ACA511025809SALL4c.2670G>T (p.Arg890=)
c.339G>T (p.Arg113=)
c.1359G>T (p.Arg453=)
c.2364G>T (p.Arg788=)
c.2544G>T (p.Arg848=)
20g.51788933C=CA2369157338SALL4c.2670G= (p.Arg890=)
c.339G= (p.Arg113=)
c.1359G= (p.Arg453=)
c.2364G= (p.Arg788=)
c.2544G= (p.Arg848=)
20g.51788933C>GCA511025811SALL4c.2670G>C (p.Arg890=)
c.339G>C (p.Arg113=)
c.1359G>C (p.Arg453=)
c.2364G>C (p.Arg788=)
c.2544G>C (p.Arg848=)
 dbSNP
20g.51788933C>TCA511025814SALL4c.2670G>A (p.Arg890=)
c.339G>A (p.Arg113=)
c.1359G>A (p.Arg453=)
c.2364G>A (p.Arg788=)
c.2544G>A (p.Arg848=)
20g.51788934C>ACA409006599SALL4c.2669G>T (p.Arg890Leu)
c.338G>T (p.Arg113Leu)
c.1358G>T (p.Arg453Leu)
c.2363G>T (p.Arg788Leu)
c.2543G>T (p.Arg848Leu)
20g.51788934C>GCA409006597SALL4c.2669G>C (p.Arg890Pro)
c.338G>C (p.Arg113Pro)
c.1358G>C (p.Arg453Pro)
c.2363G>C (p.Arg788Pro)
c.2543G>C (p.Arg848Pro)
20g.51788934C>TCA409006598SALL4c.2669G>A (p.Arg890Gln)
c.338G>A (p.Arg113Gln)
c.1358G>A (p.Arg453Gln)
c.2363G>A (p.Arg788Gln)
c.2543G>A (p.Arg848Gln)
 gnomAD v4 COSMIC
20g.51788935G>ACA409006600SALL4c.2668C>T (p.Arg890Trp)
c.337C>T (p.Arg113Trp)
c.1357C>T (p.Arg453Trp)
c.2362C>T (p.Arg788Trp)
c.2542C>T (p.Arg848Trp)
 ClinVar dbSNP
20g.51788935G>CCA409006601SALL4c.2668C>G (p.Arg890Gly)
c.337C>G (p.Arg113Gly)
c.1357C>G (p.Arg453Gly)
c.2362C>G (p.Arg788Gly)
c.2542C>G (p.Arg848Gly)
20g.51788935G=CA2369157339SALL4c.2668C= (p.Arg890=)
c.337C= (p.Arg113=)
c.1357C= (p.Arg453=)
c.2362C= (p.Arg788=)
c.2542C= (p.Arg848=)
20g.51788935G>TCA511025816SALL4c.2668C>A (p.Arg890=)
c.337C>A (p.Arg113=)
c.1357C>A (p.Arg453=)
c.2362C>A (p.Arg788=)
c.2542C>A (p.Arg848=)
 gnomAD v4
20g.51788936C>ACA409006602SALL4c.2667G>T (p.Glu889Asp)
c.336G>T (p.Glu112Asp)
c.1356G>T (p.Glu452Asp)
c.2361G>T (p.Glu787Asp)
c.2541G>T (p.Glu847Asp)
20g.51788936C>GCA409006603SALL4c.2667G>C (p.Glu889Asp)
c.336G>C (p.Glu112Asp)
c.1356G>C (p.Glu452Asp)
c.2361G>C (p.Glu787Asp)
c.2541G>C (p.Glu847Asp)
20g.51788936C>TCA511025821SALL4c.2667G>A (p.Glu889=)
c.336G>A (p.Glu112=)
c.1356G>A (p.Glu452=)
c.2361G>A (p.Glu787=)
c.2541G>A (p.Glu847=)
 gnomAD v4
20g.51788937T>ACA409006604SALL4c.2666A>T (p.Glu889Val)
c.335A>T (p.Glu112Val)
c.1355A>T (p.Glu452Val)
c.2360A>T (p.Glu787Val)
c.2540A>T (p.Glu847Val)
20g.51788937T>CCA409006605SALL4c.2666A>G (p.Glu889Gly)
c.335A>G (p.Glu112Gly)
c.1355A>G (p.Glu452Gly)
c.2360A>G (p.Glu787Gly)
c.2540A>G (p.Glu847Gly)
20g.51788937T>GCA409006606SALL4c.2666A>C (p.Glu889Ala)
c.335A>C (p.Glu112Ala)
c.1355A>C (p.Glu452Ala)
c.2360A>C (p.Glu787Ala)
c.2540A>C (p.Glu847Ala)
20g.51788938C>ACA409006607SALL4c.2665G>T (p.Glu889Ter)
c.334G>T (p.Glu112Ter)
c.1354G>T (p.Glu452Ter)
c.2359G>T (p.Glu787Ter)
c.2539G>T (p.Glu847Ter)
20g.51788938C=CA2369157340SALL4c.2665G= (p.Glu889=)
c.334G= (p.Glu112=)
c.1354G= (p.Glu452=)
c.2359G= (p.Glu787=)
c.2539G= (p.Glu847=)
20g.51788938C>GCA409006608SALL4c.2665G>C (p.Glu889Gln)
c.334G>C (p.Glu112Gln)
c.1354G>C (p.Glu452Gln)
c.2359G>C (p.Glu787Gln)
c.2539G>C (p.Glu847Gln)
20g.51788938C>TCA9912034SALL4c.2665G>A (p.Glu889Lys)
c.334G>A (p.Glu112Lys)
c.1354G>A (p.Glu452Lys)
c.2359G>A (p.Glu787Lys)
c.2539G>A (p.Glu847Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51788939G>ACA9912035SALL4c.2664C>T (p.His888=)
c.333C>T (p.His111=)
c.1353C>T (p.His451=)
c.2358C>T (p.His786=)
c.2538C>T (p.His846=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51788939G>CCA409006610SALL4c.2664C>G (p.His888Gln)
c.333C>G (p.His111Gln)
c.1353C>G (p.His451Gln)
c.2358C>G (p.His786Gln)
c.2538C>G (p.His846Gln)
20g.51788939G=CA2369157341SALL4c.2664C= (p.His888=)
c.333C= (p.His111=)
c.1353C= (p.His451=)
c.2358C= (p.His786=)
c.2538C= (p.His846=)
20g.51788939G>TCA409006609SALL4c.2664C>A (p.His888Gln)
c.333C>A (p.His111Gln)
c.1353C>A (p.His451Gln)
c.2358C>A (p.His786Gln)
c.2538C>A (p.His846Gln)
 gnomAD v4
20g.51788940T>ACA409006611SALL4c.2663A>T (p.His888Leu)
c.332A>T (p.His111Leu)
c.1352A>T (p.His451Leu)
c.2357A>T (p.His786Leu)
c.2537A>T (p.His846Leu)
20g.51788940T>CCA340062SALL4c.2663A>G (p.His888Arg)
c.332A>G (p.His111Arg)
c.1352A>G (p.His451Arg)
c.2357A>G (p.His786Arg)
c.2537A>G (p.His846Arg)
 ClinVar dbSNP
20g.51788940T>GCA409006612SALL4c.2663A>C (p.His888Pro)
c.332A>C (p.His111Pro)
c.1352A>C (p.His451Pro)
c.2357A>C (p.His786Pro)
c.2537A>C (p.His846Pro)
20g.51788940T=CA2369157342SALL4c.2663A= (p.His888=)
c.332A= (p.His111=)
c.1352A= (p.His451=)
c.2357A= (p.His786=)
c.2537A= (p.His846=)
20g.51788941G>ACA409006613SALL4c.2662C>T (p.His888Tyr)
c.331C>T (p.His111Tyr)
c.1351C>T (p.His451Tyr)
c.2356C>T (p.His786Tyr)
c.2536C>T (p.His846Tyr)
20g.51788941G>CCA409006614SALL4c.2662C>G (p.His888Asp)
c.331C>G (p.His111Asp)
c.1351C>G (p.His451Asp)
c.2356C>G (p.His786Asp)
c.2536C>G (p.His846Asp)
20g.51788941G>TCA409006615SALL4c.2662C>A (p.His888Asn)
c.331C>A (p.His111Asn)
c.1351C>A (p.His451Asn)
c.2356C>A (p.His786Asn)
c.2536C>A (p.His846Asn)
20g.51788942G>ACA315370874SALL4c.2661C>T (p.Ile887=)
c.330C>T (p.Ile110=)
c.1350C>T (p.Ile450=)
c.2355C>T (p.Ile785=)
c.2535C>T (p.Ile845=)
 dbSNP gnomAD v4
20g.51788942G>CCA409006616SALL4c.2661C>G (p.Ile887Met)
c.330C>G (p.Ile110Met)
c.1350C>G (p.Ile450Met)
c.2355C>G (p.Ile785Met)
c.2535C>G (p.Ile845Met)
20g.51788942G=CA2369157343SALL4c.2661C= (p.Ile887=)
c.330C= (p.Ile110=)
c.1350C= (p.Ile450=)
c.2355C= (p.Ile785=)
c.2535C= (p.Ile845=)
20g.51788942G>TCA511025832SALL4c.2661C>A (p.Ile887=)
c.330C>A (p.Ile110=)
c.1350C>A (p.Ile450=)
c.2355C>A (p.Ile785=)
c.2535C>A (p.Ile845=)
20g.51788943A>CCA409006617SALL4c.2660T>G (p.Ile887Ser)
c.329T>G (p.Ile110Ser)
c.1349T>G (p.Ile450Ser)
c.2354T>G (p.Ile785Ser)
c.2534T>G (p.Ile845Ser)
20g.51788943A>GCA409006618SALL4c.2660T>C (p.Ile887Thr)
c.329T>C (p.Ile110Thr)
c.1349T>C (p.Ile450Thr)
c.2354T>C (p.Ile785Thr)
c.2534T>C (p.Ile845Thr)
20g.51788943A>TCA409006619SALL4c.2660T>A (p.Ile887Asn)
c.329T>A (p.Ile110Asn)
c.1349T>A (p.Ile450Asn)
c.2354T>A (p.Ile785Asn)
c.2534T>A (p.Ile845Asn)
20g.51788944T>ACA409006620SALL4c.2659A>T (p.Ile887Phe)
c.328A>T (p.Ile110Phe)
c.1348A>T (p.Ile450Phe)
c.2353A>T (p.Ile785Phe)
c.2533A>T (p.Ile845Phe)
20g.51788944T>CCA409006621SALL4c.2659A>G (p.Ile887Val)
c.328A>G (p.Ile110Val)
c.1348A>G (p.Ile450Val)
c.2353A>G (p.Ile785Val)
c.2533A>G (p.Ile845Val)
20g.51788944T>GCA409006622SALL4c.2659A>C (p.Ile887Leu)
c.328A>C (p.Ile110Leu)
c.1348A>C (p.Ile450Leu)
c.2353A>C (p.Ile785Leu)
c.2533A>C (p.Ile845Leu)
20g.51788945C>ACA409006623SALL4c.2658G>T (p.Gln886His)
c.327G>T (p.Gln109His)
c.1347G>T (p.Gln449His)
c.2352G>T (p.Gln784His)
c.2532G>T (p.Gln844His)
 gnomAD v4
20g.51788945C=CA2369157344SALL4c.2658G= (p.Gln886=)
c.327G= (p.Gln109=)
c.1347G= (p.Gln449=)
c.2352G= (p.Gln784=)
c.2532G= (p.Gln844=)
20g.51788945C>GCA315370881SALL4c.2658G>C (p.Gln886His)
c.327G>C (p.Gln109His)
c.1347G>C (p.Gln449His)
c.2352G>C (p.Gln784His)
c.2532G>C (p.Gln844His)
 dbSNP gnomAD v4
20g.51788945C>TCA511025838SALL4c.2658G>A (p.Gln886=)
c.327G>A (p.Gln109=)
c.1347G>A (p.Gln449=)
c.2352G>A (p.Gln784=)
c.2532G>A (p.Gln844=)
20g.51788946T>ACA409006624SALL4c.2657A>T (p.Gln886Leu)
c.326A>T (p.Gln109Leu)
c.1346A>T (p.Gln449Leu)
c.2351A>T (p.Gln784Leu)
c.2531A>T (p.Gln844Leu)
 COSMIC
20g.51788946T>CCA409006625SALL4c.2657A>G (p.Gln886Arg)
c.326A>G (p.Gln109Arg)
c.1346A>G (p.Gln449Arg)
c.2351A>G (p.Gln784Arg)
c.2531A>G (p.Gln844Arg)
20g.51788946T>GCA409006626SALL4c.2657A>C (p.Gln886Pro)
c.326A>C (p.Gln109Pro)
c.1346A>C (p.Gln449Pro)
c.2351A>C (p.Gln784Pro)
c.2531A>C (p.Gln844Pro)
20g.51788947G>ACA409006627SALL4c.2656C>T (p.Gln886Ter)
c.325C>T (p.Gln109Ter)
c.1345C>T (p.Gln449Ter)
c.2350C>T (p.Gln784Ter)
c.2530C>T (p.Gln844Ter)
20g.51788947G>CCA409006628SALL4c.2656C>G (p.Gln886Glu)
c.325C>G (p.Gln109Glu)
c.1345C>G (p.Gln449Glu)
c.2350C>G (p.Gln784Glu)
c.2530C>G (p.Gln844Glu)
20g.51788947G>TCA409006629SALL4c.2656C>A (p.Gln886Lys)
c.325C>A (p.Gln109Lys)
c.1345C>A (p.Gln449Lys)
c.2350C>A (p.Gln784Lys)
c.2530C>A (p.Gln844Lys)
20g.51788948A>CCA511025840SALL4c.2655T>G (p.Leu885=)
c.324T>G (p.Leu108=)
c.1344T>G (p.Leu448=)
c.2349T>G (p.Leu783=)
c.2529T>G (p.Leu843=)
20g.51788948A>GCA511025841SALL4c.2655T>C (p.Leu885=)
c.324T>C (p.Leu108=)
c.1344T>C (p.Leu448=)
c.2349T>C (p.Leu783=)
c.2529T>C (p.Leu843=)
20g.51788948A>TCA511025842SALL4c.2655T>A (p.Leu885=)
c.324T>A (p.Leu108=)
c.1344T>A (p.Leu448=)
c.2349T>A (p.Leu783=)
c.2529T>A (p.Leu843=)
20g.51788949A>CCA409006630SALL4c.2654T>G (p.Leu885Arg)
c.323T>G (p.Leu108Arg)
c.1343T>G (p.Leu448Arg)
c.2348T>G (p.Leu783Arg)
c.2528T>G (p.Leu843Arg)
20g.51788949A>GCA409006631SALL4c.2654T>C (p.Leu885Pro)
c.323T>C (p.Leu108Pro)
c.1343T>C (p.Leu448Pro)
c.2348T>C (p.Leu783Pro)
c.2528T>C (p.Leu843Pro)
20g.51788949A>TCA409006632SALL4c.2654T>A (p.Leu885His)
c.323T>A (p.Leu108His)
c.1343T>A (p.Leu448His)
c.2348T>A (p.Leu783His)
c.2528T>A (p.Leu843His)
20g.51788950G>ACA409006633SALL4c.2653C>T (p.Leu885Phe)
c.322C>T (p.Leu108Phe)
c.1342C>T (p.Leu448Phe)
c.2347C>T (p.Leu783Phe)
c.2527C>T (p.Leu843Phe)
20g.51788950G>CCA409006634SALL4c.2653C>G (p.Leu885Val)
c.322C>G (p.Leu108Val)
c.1342C>G (p.Leu448Val)
c.2347C>G (p.Leu783Val)
c.2527C>G (p.Leu843Val)
 gnomAD v4
20g.51788950G>TCA409006635SALL4c.2653C>A (p.Leu885Ile)
c.322C>A (p.Leu108Ile)
c.1342C>A (p.Leu448Ile)
c.2347C>A (p.Leu783Ile)
c.2527C>A (p.Leu843Ile)
20g.51788951A=CA2369157345SALL4c.2652T= (p.Ala884=)
c.321T= (p.Ala107=)
c.1341T= (p.Ala447=)
c.2346T= (p.Ala782=)
c.2526T= (p.Ala842=)
20g.51788951A>CCA511025846SALL4c.2652T>G (p.Ala884=)
c.321T>G (p.Ala107=)
c.1341T>G (p.Ala447=)
c.2346T>G (p.Ala782=)
c.2526T>G (p.Ala842=)
20g.51788951A>GCA9912036SALL4c.2652T>C (p.Ala884=)
c.321T>C (p.Ala107=)
c.1341T>C (p.Ala447=)
c.2346T>C (p.Ala782=)
c.2526T>C (p.Ala842=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51788951A>TCA511025847SALL4c.2652T>A (p.Ala884=)
c.321T>A (p.Ala107=)
c.1341T>A (p.Ala447=)
c.2346T>A (p.Ala782=)
c.2526T>A (p.Ala842=)
20g.51788952G>ACA409006637SALL4c.2651C>T (p.Ala884Val)
c.320C>T (p.Ala107Val)
c.1340C>T (p.Ala447Val)
c.2345C>T (p.Ala782Val)
c.2525C>T (p.Ala842Val)
20g.51788952G>CCA409006638SALL4c.2651C>G (p.Ala884Gly)
c.320C>G (p.Ala107Gly)
c.1340C>G (p.Ala447Gly)
c.2345C>G (p.Ala782Gly)
c.2525C>G (p.Ala842Gly)
20g.51788952G>TCA409006636SALL4c.2651C>A (p.Ala884Asp)
c.320C>A (p.Ala107Asp)
c.1340C>A (p.Ala447Asp)
c.2345C>A (p.Ala782Asp)
c.2525C>A (p.Ala842Asp)
20g.51788953C>ACA409006640SALL4c.2650G>T (p.Ala884Ser)
c.319G>T (p.Ala107Ser)
c.1339G>T (p.Ala447Ser)
c.2344G>T (p.Ala782Ser)
c.2524G>T (p.Ala842Ser)
20g.51788953C=CA2369157346SALL4c.2650G= (p.Ala884=)
c.319G= (p.Ala107=)
c.1339G= (p.Ala447=)
c.2344G= (p.Ala782=)
c.2524G= (p.Ala842=)
20g.51788953C>GCA409006639SALL4c.2650G>C (p.Ala884Pro)
c.319G>C (p.Ala107Pro)
c.1339G>C (p.Ala447Pro)
c.2344G>C (p.Ala782Pro)
c.2524G>C (p.Ala842Pro)
20g.51788953C>TCA9912037SALL4c.2650G>A (p.Ala884Thr)
c.319G>A (p.Ala107Thr)
c.1339G>A (p.Ala447Thr)
c.2344G>A (p.Ala782Thr)
c.2524G>A (p.Ala842Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.51788954G>ACA9912038SALL4c.2649C>T (p.Ser883=)
c.318C>T (p.Ser106=)
c.1338C>T (p.Ser446=)
c.2343C>T (p.Ser781=)
c.2523C>T (p.Ser841=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51788954G>CCA409006641SALL4c.2649C>G (p.Ser883Arg)
c.318C>G (p.Ser106Arg)
c.1338C>G (p.Ser446Arg)
c.2343C>G (p.Ser781Arg)
c.2523C>G (p.Ser841Arg)
20g.51788954G=CA2369157347SALL4c.2649C= (p.Ser883=)
c.318C= (p.Ser106=)
c.1338C= (p.Ser446=)
c.2343C= (p.Ser781=)
c.2523C= (p.Ser841=)
20g.51788954G>TCA409006642SALL4c.2649C>A (p.Ser883Arg)
c.318C>A (p.Ser106Arg)
c.1338C>A (p.Ser446Arg)
c.2343C>A (p.Ser781Arg)
c.2523C>A (p.Ser841Arg)
20g.51788955C>ACA409006645SALL4c.2648G>T (p.Ser883Ile)
c.317G>T (p.Ser106Ile)
c.1337G>T (p.Ser446Ile)
c.2342G>T (p.Ser781Ile)
c.2522G>T (p.Ser841Ile)
20g.51788955C>GCA409006644SALL4c.2648G>C (p.Ser883Thr)
c.317G>C (p.Ser106Thr)
c.1337G>C (p.Ser446Thr)
c.2342G>C (p.Ser781Thr)
c.2522G>C (p.Ser841Thr)
20g.51788955C>TCA409006643SALL4c.2648G>A (p.Ser883Asn)
c.317G>A (p.Ser106Asn)
c.1337G>A (p.Ser446Asn)
c.2342G>A (p.Ser781Asn)
c.2522G>A (p.Ser841Asn)
20g.51788956T>ACA409006646SALL4c.2647A>T (p.Ser883Cys)
c.316A>T (p.Ser106Cys)
c.1336A>T (p.Ser446Cys)
c.2341A>T (p.Ser781Cys)
c.2521A>T (p.Ser841Cys)
20g.51788956T>CCA409006647SALL4c.2647A>G (p.Ser883Gly)
c.316A>G (p.Ser106Gly)
c.1336A>G (p.Ser446Gly)
c.2341A>G (p.Ser781Gly)
c.2521A>G (p.Ser841Gly)
20g.51788956T>GCA409006648SALL4c.2647A>C (p.Ser883Arg)
c.316A>C (p.Ser106Arg)
c.1336A>C (p.Ser446Arg)
c.2341A>C (p.Ser781Arg)
c.2521A>C (p.Ser841Arg)
20g.51788957A=CA2369157348SALL4c.2646T= (p.Ala882=)
c.315T= (p.Ala105=)
c.1335T= (p.Ala445=)
c.2340T= (p.Ala780=)
c.2520T= (p.Ala840=)
20g.51788957A>CCA511025856SALL4c.2646T>G (p.Ala882=)
c.315T>G (p.Ala105=)
c.1335T>G (p.Ala445=)
c.2340T>G (p.Ala780=)
c.2520T>G (p.Ala840=)
20g.51788957A>GCA511025858SALL4c.2646T>C (p.Ala882=)
c.315T>C (p.Ala105=)
c.1335T>C (p.Ala445=)
c.2340T>C (p.Ala780=)
c.2520T>C (p.Ala840=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.51788957A>TCA511025859SALL4c.2646T>A (p.Ala882=)
c.315T>A (p.Ala105=)
c.1335T>A (p.Ala445=)
c.2340T>A (p.Ala780=)
c.2520T>A (p.Ala840=)
20g.51788958G>ACA409006649SALL4c.2645C>T (p.Ala882Val)
c.314C>T (p.Ala105Val)
c.1334C>T (p.Ala445Val)
c.2339C>T (p.Ala780Val)
c.2519C>T (p.Ala840Val)
 gnomAD v4
20g.51788958G>CCA409006650SALL4c.2645C>G (p.Ala882Gly)
c.314C>G (p.Ala105Gly)
c.1334C>G (p.Ala445Gly)
c.2339C>G (p.Ala780Gly)
c.2519C>G (p.Ala840Gly)
20g.51788958G>TCA409006651SALL4c.2645C>A (p.Ala882Asp)
c.314C>A (p.Ala105Asp)
c.1334C>A (p.Ala445Asp)
c.2339C>A (p.Ala780Asp)
c.2519C>A (p.Ala840Asp)
20g.51788959C>ACA409006652SALL4c.2644G>T (p.Ala882Ser)
c.313G>T (p.Ala105Ser)
c.1333G>T (p.Ala445Ser)
c.2338G>T (p.Ala780Ser)
c.2518G>T (p.Ala840Ser)
20g.51788959C>GCA409006654SALL4c.2644G>C (p.Ala882Pro)
c.313G>C (p.Ala105Pro)
c.1333G>C (p.Ala445Pro)
c.2338G>C (p.Ala780Pro)
c.2518G>C (p.Ala840Pro)
20g.51788959C>TCA409006653SALL4c.2644G>A (p.Ala882Thr)
c.313G>A (p.Ala105Thr)
c.1333G>A (p.Ala445Thr)
c.2338G>A (p.Ala780Thr)
c.2518G>A (p.Ala840Thr)
20g.51788960A=CA2369157349SALL4c.2643T= (p.Ser881=)
c.312T= (p.Ser104=)
c.1332T= (p.Ser444=)
c.2337T= (p.Ser779=)
c.2517T= (p.Ser839=)
20g.51788960A>CCA511025862SALL4c.2643T>G (p.Ser881=)
c.312T>G (p.Ser104=)
c.1332T>G (p.Ser444=)
c.2337T>G (p.Ser779=)
c.2517T>G (p.Ser839=)
20g.51788960A>GCA511025865SALL4c.2643T>C (p.Ser881=)
c.312T>C (p.Ser104=)
c.1332T>C (p.Ser444=)
c.2337T>C (p.Ser779=)
c.2517T>C (p.Ser839=)
20g.51788960A>TCA511025864SALL4c.2643T>A (p.Ser881=)
c.312T>A (p.Ser104=)
c.1332T>A (p.Ser444=)
c.2337T>A (p.Ser779=)
c.2517T>A (p.Ser839=)
 dbSNP gnomAD v2 gnomAD v4
20g.51788961G>ACA409006655SALL4c.2642C>T (p.Ser881Phe)
c.311C>T (p.Ser104Phe)
c.1331C>T (p.Ser444Phe)
c.2336C>T (p.Ser779Phe)
c.2516C>T (p.Ser839Phe)
20g.51788961G>CCA409006656SALL4c.2642C>G (p.Ser881Cys)
c.311C>G (p.Ser104Cys)
c.1331C>G (p.Ser444Cys)
c.2336C>G (p.Ser779Cys)
c.2516C>G (p.Ser839Cys)
20g.51788961G>TCA409006657SALL4c.2642C>A (p.Ser881Tyr)
c.311C>A (p.Ser104Tyr)
c.1331C>A (p.Ser444Tyr)
c.2336C>A (p.Ser779Tyr)
c.2516C>A (p.Ser839Tyr)
20g.51788963_51788965delCA2653358930SALL4c.2640_2642del (p.Ser881del)
c.309_311del (p.Ser104del)
c.1329_1331del (p.Ser444del)
c.2334_2336del (p.Ser779del)
c.2514_2516del (p.Ser839del)
 gnomAD v4
20g.51788962A>CCA409006658SALL4c.2641T>G (p.Ser881Ala)
c.310T>G (p.Ser104Ala)
c.1330T>G (p.Ser444Ala)
c.2335T>G (p.Ser779Ala)
c.2515T>G (p.Ser839Ala)
20g.51788962A>GCA409006659SALL4c.2641T>C (p.Ser881Pro)
c.310T>C (p.Ser104Pro)
c.1330T>C (p.Ser444Pro)
c.2335T>C (p.Ser779Pro)
c.2515T>C (p.Ser839Pro)
20g.51788962A>TCA409006660SALL4c.2641T>A (p.Ser881Thr)
c.310T>A (p.Ser104Thr)
c.1330T>A (p.Ser444Thr)
c.2335T>A (p.Ser779Thr)
c.2515T>A (p.Ser839Thr)
20g.51788963C>ACA511025869SALL4c.2640G>T (p.Ser880=)
c.309G>T (p.Ser103=)
c.1329G>T (p.Ser443=)
c.2334G>T (p.Ser778=)
c.2514G>T (p.Ser838=)
 gnomAD v4
20g.51788963C=CA2369157350SALL4c.2640G= (p.Ser880=)
c.309G= (p.Ser103=)
c.1329G= (p.Ser443=)
c.2334G= (p.Ser778=)
c.2514G= (p.Ser838=)
20g.51788963C>GCA9912039SALL4c.2640G>C (p.Ser880=)
c.309G>C (p.Ser103=)
c.1329G>C (p.Ser443=)
c.2334G>C (p.Ser778=)
c.2514G>C (p.Ser838=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51788963C>TCA9912040SALL4c.2640G>A (p.Ser880=)
c.309G>A (p.Ser103=)
c.1329G>A (p.Ser443=)
c.2334G>A (p.Ser778=)
c.2514G>A (p.Ser838=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51788964G>ACA409006661SALL4c.2639C>T (p.Ser880Leu)
c.308C>T (p.Ser103Leu)
c.1328C>T (p.Ser443Leu)
c.2333C>T (p.Ser778Leu)
c.2513C>T (p.Ser838Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
20g.51788964G>CCA409006662SALL4c.2639C>G (p.Ser880Trp)
c.308C>G (p.Ser103Trp)
c.1328C>G (p.Ser443Trp)
c.2333C>G (p.Ser778Trp)
c.2513C>G (p.Ser838Trp)
20g.51788964G=CA2369157351SALL4c.2639C= (p.Ser880=)
c.308C= (p.Ser103=)
c.1328C= (p.Ser443=)
c.2333C= (p.Ser778=)
c.2513C= (p.Ser838=)
20g.51788964G>TCA409006663SALL4c.2639C>A (p.Ser880Ter)
c.308C>A (p.Ser103Ter)
c.1328C>A (p.Ser443Ter)
c.2333C>A (p.Ser778Ter)
c.2513C>A (p.Ser838Ter)
20g.51788965A>CCA409006666SALL4c.2638T>G (p.Ser880Ala)
c.307T>G (p.Ser103Ala)
c.1327T>G (p.Ser443Ala)
c.2332T>G (p.Ser778Ala)
c.2512T>G (p.Ser838Ala)
20g.51788965A>GCA409006665SALL4c.2638T>C (p.Ser880Pro)
c.307T>C (p.Ser103Pro)
c.1327T>C (p.Ser443Pro)
c.2332T>C (p.Ser778Pro)
c.2512T>C (p.Ser838Pro)
20g.51788965A>TCA409006664SALL4c.2638T>A (p.Ser880Thr)
c.307T>A (p.Ser103Thr)
c.1327T>A (p.Ser443Thr)
c.2332T>A (p.Ser778Thr)
c.2512T>A (p.Ser838Thr)
20g.51788966G>ACA9912041SALL4c.2637C>T (p.Phe879=)
c.306C>T (p.Phe102=)
c.1326C>T (p.Phe442=)
c.2331C>T (p.Phe777=)
c.2511C>T (p.Phe837=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51788966G>CCA409006667SALL4c.2637C>G (p.Phe879Leu)
c.306C>G (p.Phe102Leu)
c.1326C>G (p.Phe442Leu)
c.2331C>G (p.Phe777Leu)
c.2511C>G (p.Phe837Leu)
20g.51788966G=CA2369157352SALL4c.2637C= (p.Phe879=)
c.306C= (p.Phe102=)
c.1326C= (p.Phe442=)
c.2331C= (p.Phe777=)
c.2511C= (p.Phe837=)
20g.51788966G>TCA409006668SALL4c.2637C>A (p.Phe879Leu)
c.306C>A (p.Phe102Leu)
c.1326C>A (p.Phe442Leu)
c.2331C>A (p.Phe777Leu)
c.2511C>A (p.Phe837Leu)
20g.51788967A>CCA409006669SALL4c.2636T>G (p.Phe879Cys)
c.305T>G (p.Phe102Cys)
c.1325T>G (p.Phe442Cys)
c.2330T>G (p.Phe777Cys)
c.2510T>G (p.Phe837Cys)
20g.51788967A>GCA409006670SALL4c.2636T>C (p.Phe879Ser)
c.305T>C (p.Phe102Ser)
c.1325T>C (p.Phe442Ser)
c.2330T>C (p.Phe777Ser)
c.2510T>C (p.Phe837Ser)
20g.51788967A>TCA409006671SALL4c.2636T>A (p.Phe879Tyr)
c.305T>A (p.Phe102Tyr)
c.1325T>A (p.Phe442Tyr)
c.2330T>A (p.Phe777Tyr)
c.2510T>A (p.Phe837Tyr)
20g.51788968A>CCA409006674SALL4c.2635T>G (p.Phe879Val)
c.304T>G (p.Phe102Val)
c.1324T>G (p.Phe442Val)
c.2329T>G (p.Phe777Val)
c.2509T>G (p.Phe837Val)
20g.51788968A>GCA409006672SALL4c.2635T>C (p.Phe879Leu)
c.304T>C (p.Phe102Leu)
c.1324T>C (p.Phe442Leu)
c.2329T>C (p.Phe777Leu)
c.2509T>C (p.Phe837Leu)
20g.51788968A>TCA409006673SALL4c.2635T>A (p.Phe879Ile)
c.304T>A (p.Phe102Ile)
c.1324T>A (p.Phe442Ile)
c.2329T>A (p.Phe777Ile)
c.2509T>A (p.Phe837Ile)
20g.51788969G>ACA511025873SALL4c.2634C>T (p.Asn878=)
c.303C>T (p.Asn101=)
c.1323C>T (p.Asn441=)
c.2328C>T (p.Asn776=)
c.2508C>T (p.Asn836=)
 dbSNP
20g.51788969G>CCA409006675SALL4c.2634C>G (p.Asn878Lys)
c.303C>G (p.Asn101Lys)
c.1323C>G (p.Asn441Lys)
c.2328C>G (p.Asn776Lys)
c.2508C>G (p.Asn836Lys)
20g.51788969G>TCA409006676SALL4c.2634C>A (p.Asn878Lys)
c.303C>A (p.Asn101Lys)
c.1323C>A (p.Asn441Lys)
c.2328C>A (p.Asn776Lys)
c.2508C>A (p.Asn836Lys)
20g.51788970T>ACA409006677SALL4c.2633A>T (p.Asn878Ile)
c.302A>T (p.Asn101Ile)
c.1322A>T (p.Asn441Ile)
c.2327A>T (p.Asn776Ile)
c.2507A>T (p.Asn836Ile)
20g.51788970T>CCA409006678SALL4c.2633A>G (p.Asn878Ser)
c.302A>G (p.Asn101Ser)
c.1322A>G (p.Asn441Ser)
c.2327A>G (p.Asn776Ser)
c.2507A>G (p.Asn836Ser)
 gnomAD v4
20g.51788970T>GCA409006679SALL4c.2633A>C (p.Asn878Thr)
c.302A>C (p.Asn101Thr)
c.1322A>C (p.Asn441Thr)
c.2327A>C (p.Asn776Thr)
c.2507A>C (p.Asn836Thr)

Number of alleles fetched