Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.51788975C>ACA511025877SALL4c.2628G>T (p.Gly876=)
c.297G>T (p.Gly99=)
c.1317G>T (p.Gly439=)
c.2322G>T (p.Gly774=)
c.2502G>T (p.Gly834=)
 dbSNP
20g.51788975C=CA2369157353SALL4c.2628G= (p.Gly876=)
c.297G= (p.Gly99=)
c.1317G= (p.Gly439=)
c.2322G= (p.Gly774=)
c.2502G= (p.Gly834=)
20g.51788975C>GCA511025878SALL4c.2628G>C (p.Gly876=)
c.297G>C (p.Gly99=)
c.1317G>C (p.Gly439=)
c.2322G>C (p.Gly774=)
c.2502G>C (p.Gly834=)
20g.51788975C>TCA511025879SALL4c.2628G>A (p.Gly876=)
c.297G>A (p.Gly99=)
c.1317G>A (p.Gly439=)
c.2322G>A (p.Gly774=)
c.2502G>A (p.Gly834=)
 dbSNP gnomAD v4
20g.51788976C>ACA409006691SALL4c.2627G>T (p.Gly876Val)
c.296G>T (p.Gly99Val)
c.1316G>T (p.Gly439Val)
c.2321G>T (p.Gly774Val)
c.2501G>T (p.Gly834Val)
20g.51788976C>GCA409006692SALL4c.2627G>C (p.Gly876Ala)
c.296G>C (p.Gly99Ala)
c.1316G>C (p.Gly439Ala)
c.2321G>C (p.Gly774Ala)
c.2501G>C (p.Gly834Ala)
20g.51788976C>TCA409006693SALL4c.2627G>A (p.Gly876Glu)
c.296G>A (p.Gly99Glu)
c.1316G>A (p.Gly439Glu)
c.2321G>A (p.Gly774Glu)
c.2501G>A (p.Gly834Glu)
20g.51788977C>ACA409006695SALL4c.2626G>T (p.Gly876Trp)
c.295G>T (p.Gly99Trp)
c.1315G>T (p.Gly439Trp)
c.2320G>T (p.Gly774Trp)
c.2500G>T (p.Gly834Trp)
20g.51788977C=CA2369157354SALL4c.2626G= (p.Gly876=)
c.295G= (p.Gly99=)
c.1315G= (p.Gly439=)
c.2320G= (p.Gly774=)
c.2500G= (p.Gly834=)
20g.51788977C>GCA9912042SALL4c.2626G>C (p.Gly876Arg)
c.295G>C (p.Gly99Arg)
c.1315G>C (p.Gly439Arg)
c.2320G>C (p.Gly774Arg)
c.2500G>C (p.Gly834Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51788977C>TCA409006694SALL4c.2626G>A (p.Gly876Arg)
c.295G>A (p.Gly99Arg)
c.1315G>A (p.Gly439Arg)
c.2320G>A (p.Gly774Arg)
c.2500G>A (p.Gly834Arg)
20g.51788978A=CA2369157355SALL4c.2625T= (p.Cys875=)
c.294T= (p.Cys98=)
c.1314T= (p.Cys438=)
c.2319T= (p.Cys773=)
c.2499T= (p.Cys833=)
20g.51788978A>CCA409006696SALL4c.2625T>G (p.Cys875Trp)
c.294T>G (p.Cys98Trp)
c.1314T>G (p.Cys438Trp)
c.2319T>G (p.Cys773Trp)
c.2499T>G (p.Cys833Trp)
20g.51788978A>GCA511025881SALL4c.2625T>C (p.Cys875=)
c.294T>C (p.Cys98=)
c.1314T>C (p.Cys438=)
c.2319T>C (p.Cys773=)
c.2499T>C (p.Cys833=)
 dbSNP gnomAD v4
20g.51788978A>TCA409006697SALL4c.2625T>A (p.Cys875Ter)
c.294T>A (p.Cys98Ter)
c.1314T>A (p.Cys438Ter)
c.2319T>A (p.Cys773Ter)
c.2499T>A (p.Cys833Ter)
20g.51788979C>ACA409006698SALL4c.2624G>T (p.Cys875Phe)
c.293G>T (p.Cys98Phe)
c.1313G>T (p.Cys438Phe)
c.2318G>T (p.Cys773Phe)
c.2498G>T (p.Cys833Phe)
 gnomAD v4
20g.51788979C>GCA409006700SALL4c.2624G>C (p.Cys875Ser)
c.293G>C (p.Cys98Ser)
c.1313G>C (p.Cys438Ser)
c.2318G>C (p.Cys773Ser)
c.2498G>C (p.Cys833Ser)
20g.51788979C>TCA409006699SALL4c.2624G>A (p.Cys875Tyr)
c.293G>A (p.Cys98Tyr)
c.1313G>A (p.Cys438Tyr)
c.2318G>A (p.Cys773Tyr)
c.2498G>A (p.Cys833Tyr)
20g.51788980A=CA2369157356SALL4c.2623T= (p.Cys875=)
c.292T= (p.Cys98=)
c.1312T= (p.Cys438=)
c.2317T= (p.Cys773=)
c.2497T= (p.Cys833=)
20g.51788980A>CCA409006701SALL4c.2623T>G (p.Cys875Gly)
c.292T>G (p.Cys98Gly)
c.1312T>G (p.Cys438Gly)
c.2317T>G (p.Cys773Gly)
c.2497T>G (p.Cys833Gly)
 dbSNP
20g.51788980A>GCA409006703SALL4c.2623T>C (p.Cys875Arg)
c.292T>C (p.Cys98Arg)
c.1312T>C (p.Cys438Arg)
c.2317T>C (p.Cys773Arg)
c.2497T>C (p.Cys833Arg)
20g.51788980A>TCA409006702SALL4c.2623T>A (p.Cys875Ser)
c.292T>A (p.Cys98Ser)
c.1312T>A (p.Cys438Ser)
c.2317T>A (p.Cys773Ser)
c.2497T>A (p.Cys833Ser)
20g.51788981C>ACA511025885SALL4c.2622G>T (p.Arg874=)
c.291G>T (p.Arg97=)
c.1311G>T (p.Arg437=)
c.2316G>T (p.Arg772=)
c.2496G>T (p.Arg832=)
20g.51788981C>GCA511025886SALL4c.2622G>C (p.Arg874=)
c.291G>C (p.Arg97=)
c.1311G>C (p.Arg437=)
c.2316G>C (p.Arg772=)
c.2496G>C (p.Arg832=)
20g.51788981C>TCA511025887SALL4c.2622G>A (p.Arg874=)
c.291G>A (p.Arg97=)
c.1311G>A (p.Arg437=)
c.2316G>A (p.Arg772=)
c.2496G>A (p.Arg832=)
20g.51788982C>ACA409006704SALL4c.2621G>T (p.Arg874Leu)
c.290G>T (p.Arg97Leu)
c.1310G>T (p.Arg437Leu)
c.2315G>T (p.Arg772Leu)
c.2495G>T (p.Arg832Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.51788982C=CA2369157357SALL4c.2621G= (p.Arg874=)
c.290G= (p.Arg97=)
c.1310G= (p.Arg437=)
c.2315G= (p.Arg772=)
c.2495G= (p.Arg832=)
20g.51788982C>GCA409006705SALL4c.2621G>C (p.Arg874Pro)
c.290G>C (p.Arg97Pro)
c.1310G>C (p.Arg437Pro)
c.2315G>C (p.Arg772Pro)
c.2495G>C (p.Arg832Pro)
20g.51788982C>TCA9912043SALL4c.2621G>A (p.Arg874Gln)
c.290G>A (p.Arg97Gln)
c.1310G>A (p.Arg437Gln)
c.2315G>A (p.Arg772Gln)
c.2495G>A (p.Arg832Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51788983G>ACA9912044SALL4c.2620C>T (p.Arg874Trp)
c.289C>T (p.Arg97Trp)
c.1309C>T (p.Arg437Trp)
c.2314C>T (p.Arg772Trp)
c.2494C>T (p.Arg832Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.51788983G>CCA409006706SALL4c.2620C>G (p.Arg874Gly)
c.289C>G (p.Arg97Gly)
c.1309C>G (p.Arg437Gly)
c.2314C>G (p.Arg772Gly)
c.2494C>G (p.Arg832Gly)
20g.51788983G=CA2369157358SALL4c.2620C= (p.Arg874=)
c.289C= (p.Arg97=)
c.1309C= (p.Arg437=)
c.2314C= (p.Arg772=)
c.2494C= (p.Arg832=)
20g.51788983G>TCA511025889SALL4c.2620C>A (p.Arg874=)
c.289C>A (p.Arg97=)
c.1309C>A (p.Arg437=)
c.2314C>A (p.Arg772=)
c.2494C>A (p.Arg832=)
20g.51788984T>ACA511025890SALL4c.2619A>T (p.Thr873=)
c.288A>T (p.Thr96=)
c.1308A>T (p.Thr436=)
c.2313A>T (p.Thr771=)
c.2493A>T (p.Thr831=)
20g.51788984T>CCA511025891SALL4c.2619A>G (p.Thr873=)
c.288A>G (p.Thr96=)
c.1308A>G (p.Thr436=)
c.2313A>G (p.Thr771=)
c.2493A>G (p.Thr831=)
20g.51788984T>GCA511025892SALL4c.2619A>C (p.Thr873=)
c.288A>C (p.Thr96=)
c.1308A>C (p.Thr436=)
c.2313A>C (p.Thr771=)
c.2493A>C (p.Thr831=)
20g.51788985G>ACA409006707SALL4c.2618C>T (p.Thr873Ile)
c.287C>T (p.Thr96Ile)
c.1307C>T (p.Thr436Ile)
c.2312C>T (p.Thr771Ile)
c.2492C>T (p.Thr831Ile)
20g.51788985G>CCA409006708SALL4c.2618C>G (p.Thr873Arg)
c.287C>G (p.Thr96Arg)
c.1307C>G (p.Thr436Arg)
c.2312C>G (p.Thr771Arg)
c.2492C>G (p.Thr831Arg)
20g.51788985G>TCA409006709SALL4c.2618C>A (p.Thr873Lys)
c.287C>A (p.Thr96Lys)
c.1307C>A (p.Thr436Lys)
c.2312C>A (p.Thr771Lys)
c.2492C>A (p.Thr831Lys)
20g.51788986T>ACA409006710SALL4c.2617A>T (p.Thr873Ser)
c.286A>T (p.Thr96Ser)
c.1306A>T (p.Thr436Ser)
c.2311A>T (p.Thr771Ser)
c.2491A>T (p.Thr831Ser)
20g.51788986T>CCA409006711SALL4c.2617A>G (p.Thr873Ala)
c.286A>G (p.Thr96Ala)
c.1306A>G (p.Thr436Ala)
c.2311A>G (p.Thr771Ala)
c.2491A>G (p.Thr831Ala)
20g.51788986T>GCA409006712SALL4c.2617A>C (p.Thr873Pro)
c.286A>C (p.Thr96Pro)
c.1306A>C (p.Thr436Pro)
c.2311A>C (p.Thr771Pro)
c.2491A>C (p.Thr831Pro)
20g.51788987G>ACA511025895SALL4c.2616C>T (p.Cys872=)
c.285C>T (p.Cys95=)
c.1305C>T (p.Cys435=)
c.2310C>T (p.Cys770=)
c.2490C>T (p.Cys830=)
 gnomAD v4
20g.51788987G>CCA409006713SALL4c.2616C>G (p.Cys872Trp)
c.285C>G (p.Cys95Trp)
c.1305C>G (p.Cys435Trp)
c.2310C>G (p.Cys770Trp)
c.2490C>G (p.Cys830Trp)
20g.51788987G>TCA409006714SALL4c.2616C>A (p.Cys872Ter)
c.285C>A (p.Cys95Ter)
c.1305C>A (p.Cys435Ter)
c.2310C>A (p.Cys770Ter)
c.2490C>A (p.Cys830Ter)
20g.51788988C>ACA409006717SALL4c.2615G>T (p.Cys872Phe)
c.284G>T (p.Cys95Phe)
c.1304G>T (p.Cys435Phe)
c.2309G>T (p.Cys770Phe)
c.2489G>T (p.Cys830Phe)
20g.51788988C>GCA409006716SALL4c.2615G>C (p.Cys872Ser)
c.284G>C (p.Cys95Ser)
c.1304G>C (p.Cys435Ser)
c.2309G>C (p.Cys770Ser)
c.2489G>C (p.Cys830Ser)
20g.51788988C>TCA409006715SALL4c.2615G>A (p.Cys872Tyr)
c.284G>A (p.Cys95Tyr)
c.1304G>A (p.Cys435Tyr)
c.2309G>A (p.Cys770Tyr)
c.2489G>A (p.Cys830Tyr)
20g.51788989A>CCA409006718SALL4c.2614T>G (p.Cys872Gly)
c.283T>G (p.Cys95Gly)
c.1303T>G (p.Cys435Gly)
c.2308T>G (p.Cys770Gly)
c.2488T>G (p.Cys830Gly)
20g.51788989A>GCA409006719SALL4c.2614T>C (p.Cys872Arg)
c.283T>C (p.Cys95Arg)
c.1303T>C (p.Cys435Arg)
c.2308T>C (p.Cys770Arg)
c.2488T>C (p.Cys830Arg)
20g.51788989A>TCA409006720SALL4c.2614T>A (p.Cys872Ser)
c.283T>A (p.Cys95Ser)
c.1303T>A (p.Cys435Ser)
c.2308T>A (p.Cys770Ser)
c.2488T>A (p.Cys830Ser)
20g.51788990G>ACA511025898SALL4c.2613C>T (p.Gly871=)
c.282C>T (p.Gly94=)
c.1302C>T (p.Gly434=)
c.2307C>T (p.Gly769=)
c.2487C>T (p.Gly829=)
 gnomAD v4
20g.51788990G>CCA511025896SALL4c.2613C>G (p.Gly871=)
c.282C>G (p.Gly94=)
c.1302C>G (p.Gly434=)
c.2307C>G (p.Gly769=)
c.2487C>G (p.Gly829=)
 dbSNP gnomAD v3 gnomAD v4
20g.51788990G=CA2369157359SALL4c.2613C= (p.Gly871=)
c.282C= (p.Gly94=)
c.1302C= (p.Gly434=)
c.2307C= (p.Gly769=)
c.2487C= (p.Gly829=)
20g.51788990G>TCA511025897SALL4c.2613C>A (p.Gly871=)
c.282C>A (p.Gly94=)
c.1302C>A (p.Gly434=)
c.2307C>A (p.Gly769=)
c.2487C>A (p.Gly829=)
20g.51788991C>ACA409006721SALL4c.2612G>T (p.Gly871Val)
c.281G>T (p.Gly94Val)
c.1301G>T (p.Gly434Val)
c.2306G>T (p.Gly769Val)
c.2486G>T (p.Gly829Val)
20g.51788991C>GCA409006722SALL4c.2612G>C (p.Gly871Ala)
c.281G>C (p.Gly94Ala)
c.1301G>C (p.Gly434Ala)
c.2306G>C (p.Gly769Ala)
c.2486G>C (p.Gly829Ala)
20g.51788991C>TCA409006723SALL4c.2612G>A (p.Gly871Asp)
c.281G>A (p.Gly94Asp)
c.1301G>A (p.Gly434Asp)
c.2306G>A (p.Gly769Asp)
c.2486G>A (p.Gly829Asp)
20g.51788992C>ACA409006724SALL4c.2611G>T (p.Gly871Cys)
c.280G>T (p.Gly94Cys)
c.1300G>T (p.Gly434Cys)
c.2305G>T (p.Gly769Cys)
c.2485G>T (p.Gly829Cys)
20g.51788992C>GCA409006725SALL4c.2611G>C (p.Gly871Arg)
c.280G>C (p.Gly94Arg)
c.1300G>C (p.Gly434Arg)
c.2305G>C (p.Gly769Arg)
c.2485G>C (p.Gly829Arg)
20g.51788992C>TCA409006726SALL4c.2611G>A (p.Gly871Ser)
c.280G>A (p.Gly94Ser)
c.1300G>A (p.Gly434Ser)
c.2305G>A (p.Gly769Ser)
c.2485G>A (p.Gly829Ser)
20g.51788993A>CCA409006727SALL4c.2610T>G (p.His870Gln)
c.279T>G (p.His93Gln)
c.1299T>G (p.His433Gln)
c.2304T>G (p.His768Gln)
c.2484T>G (p.His828Gln)
20g.51788993A>GCA511025903SALL4c.2610T>C (p.His870=)
c.279T>C (p.His93=)
c.1299T>C (p.His433=)
c.2304T>C (p.His768=)
c.2484T>C (p.His828=)
 gnomAD v4
20g.51788993A>TCA409006728SALL4c.2610T>A (p.His870Gln)
c.279T>A (p.His93Gln)
c.1299T>A (p.His433Gln)
c.2304T>A (p.His768Gln)
c.2484T>A (p.His828Gln)
20g.51788994T>ACA409006729SALL4c.2609A>T (p.His870Leu)
c.278A>T (p.His93Leu)
c.1298A>T (p.His433Leu)
c.2303A>T (p.His768Leu)
c.2483A>T (p.His828Leu)
20g.51788994T>CCA409006730SALL4c.2609A>G (p.His870Arg)
c.278A>G (p.His93Arg)
c.1298A>G (p.His433Arg)
c.2303A>G (p.His768Arg)
c.2483A>G (p.His828Arg)
 dbSNP gnomAD v4
20g.51788994T>GCA409006731SALL4c.2609A>C (p.His870Pro)
c.278A>C (p.His93Pro)
c.1298A>C (p.His433Pro)
c.2303A>C (p.His768Pro)
c.2483A>C (p.His828Pro)
20g.51788994T=CA2369157360SALL4c.2609A= (p.His870=)
c.278A= (p.His93=)
c.1298A= (p.His433=)
c.2303A= (p.His768=)
c.2483A= (p.His828=)
20g.51788995G>ACA409006733SALL4c.2608C>T (p.His870Tyr)
c.277C>T (p.His93Tyr)
c.1297C>T (p.His433Tyr)
c.2302C>T (p.His768Tyr)
c.2482C>T (p.His828Tyr)
20g.51788995G>CCA409006734SALL4c.2608C>G (p.His870Asp)
c.277C>G (p.His93Asp)
c.1297C>G (p.His433Asp)
c.2302C>G (p.His768Asp)
c.2482C>G (p.His828Asp)
20g.51788995G>TCA409006732SALL4c.2608C>A (p.His870Asn)
c.277C>A (p.His93Asn)
c.1297C>A (p.His433Asn)
c.2302C>A (p.His768Asn)
c.2482C>A (p.His828Asn)
20g.51788995_51788996delinsGTCA2369157361SALL4c.2607_2608delinsAC (p.Gln869=)
c.276_277delinsAC (p.Gln92=)
c.1296_1297delinsAC (p.Gln432=)
c.2301_2302delinsAC (p.Gln767=)
c.2481_2482delinsAC (p.Gln827=)
20g.51788996T>ACA409006735SALL4c.2607A>T (p.Gln869His)
c.276A>T (p.Gln92His)
c.1296A>T (p.Gln432His)
c.2301A>T (p.Gln767His)
c.2481A>T (p.Gln827His)
20g.51788996T>CCA511025906SALL4c.2607A>G (p.Gln869=)
c.276A>G (p.Gln92=)
c.1296A>G (p.Gln432=)
c.2301A>G (p.Gln767=)
c.2481A>G (p.Gln827=)
20g.51788996T>GCA409006736SALL4c.2607A>C (p.Gln869His)
c.276A>C (p.Gln92His)
c.1296A>C (p.Gln432His)
c.2301A>C (p.Gln767His)
c.2481A>C (p.Gln827His)
 gnomAD v4
20g.51788997delCA913185002SALL4c.2607del (p.Gln869HisfsTer?)
c.276del (p.Gln92HisfsTer?)
c.1296del (p.Gln432HisfsTer?)
c.2301del (p.Gln767HisfsTer?)
c.2481del (p.Gln827HisfsTer?)
 ClinVar dbSNP
20g.51788997T>ACA409006737SALL4c.2606A>T (p.Gln869Leu)
c.275A>T (p.Gln92Leu)
c.1295A>T (p.Gln432Leu)
c.2300A>T (p.Gln767Leu)
c.2480A>T (p.Gln827Leu)
20g.51788997T>CCA409006738SALL4c.2606A>G (p.Gln869Arg)
c.275A>G (p.Gln92Arg)
c.1295A>G (p.Gln432Arg)
c.2300A>G (p.Gln767Arg)
c.2480A>G (p.Gln827Arg)
20g.51788997T>GCA315371005SALL4c.2606A>C (p.Gln869Pro)
c.275A>C (p.Gln92Pro)
c.1295A>C (p.Gln432Pro)
c.2300A>C (p.Gln767Pro)
c.2480A>C (p.Gln827Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.51788997T=CA2369157362SALL4c.2606A= (p.Gln869=)
c.275A= (p.Gln92=)
c.1295A= (p.Gln432=)
c.2300A= (p.Gln767=)
c.2480A= (p.Gln827=)
20g.51788998G>ACA409006739SALL4c.2605C>T (p.Gln869Ter)
c.274C>T (p.Gln92Ter)
c.1294C>T (p.Gln432Ter)
c.2299C>T (p.Gln767Ter)
c.2479C>T (p.Gln827Ter)
20g.51788998G>CCA409006740SALL4c.2605C>G (p.Gln869Glu)
c.274C>G (p.Gln92Glu)
c.1294C>G (p.Gln432Glu)
c.2299C>G (p.Gln767Glu)
c.2479C>G (p.Gln827Glu)
20g.51788998G>TCA409006741SALL4c.2605C>A (p.Gln869Lys)
c.274C>A (p.Gln92Lys)
c.1294C>A (p.Gln432Lys)
c.2299C>A (p.Gln767Lys)
c.2479C>A (p.Gln827Lys)
20g.51788999C>ACA409006742SALL4c.2604G>T (p.Lys868Asn)
c.273G>T (p.Lys91Asn)
c.1293G>T (p.Lys431Asn)
c.2298G>T (p.Lys766Asn)
c.2478G>T (p.Lys826Asn)
20g.51788999C>GCA409006743SALL4c.2604G>C (p.Lys868Asn)
c.273G>C (p.Lys91Asn)
c.1293G>C (p.Lys431Asn)
c.2298G>C (p.Lys766Asn)
c.2478G>C (p.Lys826Asn)
20g.51788999C>TCA511025911SALL4c.2604G>A (p.Lys868=)
c.273G>A (p.Lys91=)
c.1293G>A (p.Lys431=)
c.2298G>A (p.Lys766=)
c.2478G>A (p.Lys826=)
 gnomAD v4
20g.51789000T>ACA409006744SALL4c.2603A>T (p.Lys868Met)
c.272A>T (p.Lys91Met)
c.1292A>T (p.Lys431Met)
c.2297A>T (p.Lys766Met)
c.2477A>T (p.Lys826Met)
20g.51789000T>CCA409006745SALL4c.2603A>G (p.Lys868Arg)
c.272A>G (p.Lys91Arg)
c.1292A>G (p.Lys431Arg)
c.2297A>G (p.Lys766Arg)
c.2477A>G (p.Lys826Arg)
20g.51789000T>GCA409006746SALL4c.2603A>C (p.Lys868Thr)
c.272A>C (p.Lys91Thr)
c.1292A>C (p.Lys431Thr)
c.2297A>C (p.Lys766Thr)
c.2477A>C (p.Lys826Thr)
20g.51789001T>ACA409006749SALL4c.2602A>T (p.Lys868Ter)
c.271A>T (p.Lys91Ter)
c.1291A>T (p.Lys431Ter)
c.2296A>T (p.Lys766Ter)
c.2476A>T (p.Lys826Ter)
20g.51789001T>CCA409006747SALL4c.2602A>G (p.Lys868Glu)
c.271A>G (p.Lys91Glu)
c.1291A>G (p.Lys431Glu)
c.2296A>G (p.Lys766Glu)
c.2476A>G (p.Lys826Glu)
20g.51789001T>GCA409006748SALL4c.2602A>C (p.Lys868Gln)
c.271A>C (p.Lys91Gln)
c.1291A>C (p.Lys431Gln)
c.2296A>C (p.Lys766Gln)
c.2476A>C (p.Lys826Gln)
20g.51789002G>ACA511025912SALL4c.2601C>T (p.Ala867=)
c.270C>T (p.Ala90=)
c.1290C>T (p.Ala430=)
c.2295C>T (p.Ala765=)
c.2475C>T (p.Ala825=)
20g.51789002G>CCA511025914SALL4c.2601C>G (p.Ala867=)
c.270C>G (p.Ala90=)
c.1290C>G (p.Ala430=)
c.2295C>G (p.Ala765=)
c.2475C>G (p.Ala825=)
20g.51789002G>TCA511025916SALL4c.2601C>A (p.Ala867=)
c.270C>A (p.Ala90=)
c.1290C>A (p.Ala430=)
c.2295C>A (p.Ala765=)
c.2475C>A (p.Ala825=)
20g.51789003G>ACA409006750SALL4c.2600C>T (p.Ala867Val)
c.269C>T (p.Ala90Val)
c.1289C>T (p.Ala430Val)
c.2294C>T (p.Ala765Val)
c.2474C>T (p.Ala825Val)
20g.51789003G>CCA409006751SALL4c.2600C>G (p.Ala867Gly)
c.269C>G (p.Ala90Gly)
c.1289C>G (p.Ala430Gly)
c.2294C>G (p.Ala765Gly)
c.2474C>G (p.Ala825Gly)
20g.51789003G>TCA409006752SALL4c.2600C>A (p.Ala867Asp)
c.269C>A (p.Ala90Asp)
c.1289C>A (p.Ala430Asp)
c.2294C>A (p.Ala765Asp)
c.2474C>A (p.Ala825Asp)
20g.51789004C>ACA409006753SALL4c.2599G>T (p.Ala867Ser)
c.268G>T (p.Ala90Ser)
c.1288G>T (p.Ala430Ser)
c.2293G>T (p.Ala765Ser)
c.2473G>T (p.Ala825Ser)
20g.51789004C=CA2369157363SALL4c.2599G= (p.Ala867=)
c.268G= (p.Ala90=)
c.1288G= (p.Ala430=)
c.2293G= (p.Ala765=)
c.2473G= (p.Ala825=)
20g.51789004C>GCA409006754SALL4c.2599G>C (p.Ala867Pro)
c.268G>C (p.Ala90Pro)
c.1288G>C (p.Ala430Pro)
c.2293G>C (p.Ala765Pro)
c.2473G>C (p.Ala825Pro)
20g.51789004C>TCA409006755SALL4c.2599G>A (p.Ala867Thr)
c.268G>A (p.Ala90Thr)
c.1288G>A (p.Ala430Thr)
c.2293G>A (p.Ala765Thr)
c.2473G>A (p.Ala825Thr)
 dbSNP gnomAD v2 gnomAD v4
20g.51789005C>ACA409006756SALL4c.2598G>T (p.Gln866His)
c.267G>T (p.Gln89His)
c.1287G>T (p.Gln429His)
c.2292G>T (p.Gln764His)
c.2472G>T (p.Gln824His)
 gnomAD v4
20g.51789005C>GCA409006757SALL4c.2598G>C (p.Gln866His)
c.267G>C (p.Gln89His)
c.1287G>C (p.Gln429His)
c.2292G>C (p.Gln764His)
c.2472G>C (p.Gln824His)
20g.51789005C>TCA511025920SALL4c.2598G>A (p.Gln866=)
c.267G>A (p.Gln89=)
c.1287G>A (p.Gln429=)
c.2292G>A (p.Gln764=)
c.2472G>A (p.Gln824=)
20g.51789006T>ACA409006758SALL4c.2597A>T (p.Gln866Leu)
c.266A>T (p.Gln89Leu)
c.1286A>T (p.Gln429Leu)
c.2291A>T (p.Gln764Leu)
c.2471A>T (p.Gln824Leu)
20g.51789006T>CCA409006759SALL4c.2597A>G (p.Gln866Arg)
c.266A>G (p.Gln89Arg)
c.1286A>G (p.Gln429Arg)
c.2291A>G (p.Gln764Arg)
c.2471A>G (p.Gln824Arg)
20g.51789006T>GCA409006760SALL4c.2597A>C (p.Gln866Pro)
c.266A>C (p.Gln89Pro)
c.1286A>C (p.Gln429Pro)
c.2291A>C (p.Gln764Pro)
c.2471A>C (p.Gln824Pro)
20g.51789007G>ACA409006761SALL4c.2596C>T (p.Gln866Ter)
c.265C>T (p.Gln89Ter)
c.1285C>T (p.Gln429Ter)
c.2290C>T (p.Gln764Ter)
c.2470C>T (p.Gln824Ter)
20g.51789007G>CCA409006763SALL4c.2596C>G (p.Gln866Glu)
c.265C>G (p.Gln89Glu)
c.1285C>G (p.Gln429Glu)
c.2290C>G (p.Gln764Glu)
c.2470C>G (p.Gln824Glu)
20g.51789007G>TCA409006762SALL4c.2596C>A (p.Gln866Lys)
c.265C>A (p.Gln89Lys)
c.1285C>A (p.Gln429Lys)
c.2290C>A (p.Gln764Lys)
c.2470C>A (p.Gln824Lys)
 COSMIC
20g.51789008T>ACA511025921SALL4c.2595A>T (p.Arg865=)
c.264A>T (p.Arg88=)
c.1284A>T (p.Arg428=)
c.2289A>T (p.Arg763=)
c.2469A>T (p.Arg823=)
20g.51789008T>CCA511025922SALL4c.2595A>G (p.Arg865=)
c.264A>G (p.Arg88=)
c.1284A>G (p.Arg428=)
c.2289A>G (p.Arg763=)
c.2469A>G (p.Arg823=)
20g.51789008T>GCA511025923SALL4c.2595A>C (p.Arg865=)
c.264A>C (p.Arg88=)
c.1284A>C (p.Arg428=)
c.2289A>C (p.Arg763=)
c.2469A>C (p.Arg823=)
20g.51789009C>ACA409006764SALL4c.2594G>T (p.Arg865Leu)
c.263G>T (p.Arg88Leu)
c.1283G>T (p.Arg428Leu)
c.2288G>T (p.Arg763Leu)
c.2468G>T (p.Arg823Leu)
 ClinVar gnomAD v4
20g.51789009C=CA2369157364SALL4c.2594G= (p.Arg865=)
c.263G= (p.Arg88=)
c.1283G= (p.Arg428=)
c.2288G= (p.Arg763=)
c.2468G= (p.Arg823=)
20g.51789009C>GCA409006766SALL4c.2594G>C (p.Arg865Pro)
c.263G>C (p.Arg88Pro)
c.1283G>C (p.Arg428Pro)
c.2288G>C (p.Arg763Pro)
c.2468G>C (p.Arg823Pro)
20g.51789009C>TCA409006765SALL4c.2594G>A (p.Arg865Gln)
c.263G>A (p.Arg88Gln)
c.1283G>A (p.Arg428Gln)
c.2288G>A (p.Arg763Gln)
c.2468G>A (p.Arg823Gln)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
20g.51789010G>ACA340056SALL4c.2593C>T (p.Arg865Ter)
c.262C>T (p.Arg88Ter)
c.1282C>T (p.Arg428Ter)
c.2287C>T (p.Arg763Ter)
c.2467C>T (p.Arg823Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
20g.51789010G>CCA409006767SALL4c.2593C>G (p.Arg865Gly)
c.262C>G (p.Arg88Gly)
c.1282C>G (p.Arg428Gly)
c.2287C>G (p.Arg763Gly)
c.2467C>G (p.Arg823Gly)
 gnomAD v4
20g.51789010G=CA2369157365SALL4c.2593C= (p.Arg865=)
c.262C= (p.Arg88=)
c.1282C= (p.Arg428=)
c.2287C= (p.Arg763=)
c.2467C= (p.Arg823=)
20g.51789010G>TCA511025924SALL4c.2593C>A (p.Arg865=)
c.262C>A (p.Arg88=)
c.1282C>A (p.Arg428=)
c.2287C>A (p.Arg763=)
c.2467C>A (p.Arg823=)
20g.51789013_51789017delCA915940331SALL4c.2589_2593del (p.Arg864ThrfsTer18)
c.258_262del (p.Arg87ThrfsTer18)
c.1278_1282del (p.Arg427ThrfsTer18)
c.2283_2287del (p.Arg762ThrfsTer18)
c.2463_2467del (p.Arg822ThrfsTer18)
20g.51789011G>ACA511025925SALL4c.2592C>T (p.Arg864=)
c.261C>T (p.Arg87=)
c.1281C>T (p.Arg427=)
c.2286C>T (p.Arg762=)
c.2466C>T (p.Arg822=)
20g.51789011G>CCA511025926SALL4c.2592C>G (p.Arg864=)
c.261C>G (p.Arg87=)
c.1281C>G (p.Arg427=)
c.2286C>G (p.Arg762=)
c.2466C>G (p.Arg822=)
20g.51789011G>TCA511025928SALL4c.2592C>A (p.Arg864=)
c.261C>A (p.Arg87=)
c.1281C>A (p.Arg427=)
c.2286C>A (p.Arg762=)
c.2466C>A (p.Arg822=)
20g.51789011_51789012delinsAACA891862956SALL4c.2591_2592delinsTT (p.Arg864Leu)
c.260_261delinsTT (p.Arg87Leu)
c.1280_1281delinsTT (p.Arg427Leu)
c.2285_2286delinsTT (p.Arg762Leu)
c.2465_2466delinsTT (p.Arg822Leu)
 ClinVar dbSNP
20g.51789011_51789012delinsGCCA2369157366SALL4c.2591_2592delinsGC (p.Arg864=)
c.260_261delinsGC (p.Arg87=)
c.1280_1281delinsGC (p.Arg427=)
c.2285_2286delinsGC (p.Arg762=)
c.2465_2466delinsGC (p.Arg822=)
20g.51789012C>ACA409006768SALL4c.2591G>T (p.Arg864Leu)
c.260G>T (p.Arg87Leu)
c.1280G>T (p.Arg427Leu)
c.2285G>T (p.Arg762Leu)
c.2465G>T (p.Arg822Leu)
 gnomAD v4
20g.51789012C=CA2369157367SALL4c.2591G= (p.Arg864=)
c.260G= (p.Arg87=)
c.1280G= (p.Arg427=)
c.2285G= (p.Arg762=)
c.2465G= (p.Arg822=)
20g.51789012C>GCA409006769SALL4c.2591G>C (p.Arg864Pro)
c.260G>C (p.Arg87Pro)
c.1280G>C (p.Arg427Pro)
c.2285G>C (p.Arg762Pro)
c.2465G>C (p.Arg822Pro)
 COSMIC
20g.51789012C>TCA409006770SALL4c.2591G>A (p.Arg864His)
c.260G>A (p.Arg87His)
c.1280G>A (p.Arg427His)
c.2285G>A (p.Arg762His)
c.2465G>A (p.Arg822His)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
20g.51789013G>ACA9912045SALL4c.2590C>T (p.Arg864Cys)
c.259C>T (p.Arg87Cys)
c.1279C>T (p.Arg427Cys)
c.2284C>T (p.Arg762Cys)
c.2464C>T (p.Arg822Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.51789013G>CCA409006771SALL4c.2590C>G (p.Arg864Gly)
c.259C>G (p.Arg87Gly)
c.1279C>G (p.Arg427Gly)
c.2284C>G (p.Arg762Gly)
c.2464C>G (p.Arg822Gly)
20g.51789013G=CA2369157368SALL4c.2590C= (p.Arg864=)
c.259C= (p.Arg87=)
c.1279C= (p.Arg427=)
c.2284C= (p.Arg762=)
c.2464C= (p.Arg822=)
20g.51789013G>TCA409006772SALL4c.2590C>A (p.Arg864Ser)
c.259C>A (p.Arg87Ser)
c.1279C>A (p.Arg427Ser)
c.2284C>A (p.Arg762Ser)
c.2464C>A (p.Arg822Ser)
20g.51789014T>ACA511025929SALL4c.2589A>T (p.Pro863=)
c.258A>T (p.Pro86=)
c.1278A>T (p.Pro426=)
c.2283A>T (p.Pro761=)
c.2463A>T (p.Pro821=)
20g.51789014T>CCA511025930SALL4c.2589A>G (p.Pro863=)
c.258A>G (p.Pro86=)
c.1278A>G (p.Pro426=)
c.2283A>G (p.Pro761=)
c.2463A>G (p.Pro821=)
20g.51789014T>GCA511025931SALL4c.2589A>C (p.Pro863=)
c.258A>C (p.Pro86=)
c.1278A>C (p.Pro426=)
c.2283A>C (p.Pro761=)
c.2463A>C (p.Pro821=)
20g.51789015G>ACA315371035SALL4c.2588C>T (p.Pro863Leu)
c.257C>T (p.Pro86Leu)
c.1277C>T (p.Pro426Leu)
c.2282C>T (p.Pro761Leu)
c.2462C>T (p.Pro821Leu)
 dbSNP
20g.51789015G>CCA409006773SALL4c.2588C>G (p.Pro863Arg)
c.257C>G (p.Pro86Arg)
c.1277C>G (p.Pro426Arg)
c.2282C>G (p.Pro761Arg)
c.2462C>G (p.Pro821Arg)
20g.51789015G=CA2369157369SALL4c.2588C= (p.Pro863=)
c.257C= (p.Pro86=)
c.1277C= (p.Pro426=)
c.2282C= (p.Pro761=)
c.2462C= (p.Pro821=)
20g.51789015G>TCA409006774SALL4c.2588C>A (p.Pro863Gln)
c.257C>A (p.Pro86Gln)
c.1277C>A (p.Pro426Gln)
c.2282C>A (p.Pro761Gln)
c.2462C>A (p.Pro821Gln)
20g.51789016G>ACA409006777SALL4c.2587C>T (p.Pro863Ser)
c.256C>T (p.Pro86Ser)
c.1276C>T (p.Pro426Ser)
c.2281C>T (p.Pro761Ser)
c.2461C>T (p.Pro821Ser)
20g.51789016G>CCA409006776SALL4c.2587C>G (p.Pro863Ala)
c.256C>G (p.Pro86Ala)
c.1276C>G (p.Pro426Ala)
c.2281C>G (p.Pro761Ala)
c.2461C>G (p.Pro821Ala)
20g.51789016G>TCA409006775SALL4c.2587C>A (p.Pro863Thr)
c.256C>A (p.Pro86Thr)
c.1276C>A (p.Pro426Thr)
c.2281C>A (p.Pro761Thr)
c.2461C>A (p.Pro821Thr)
20g.51789017C>ACA409006778SALL4c.2586G>T (p.Gln862His)
c.255G>T (p.Gln85His)
c.1275G>T (p.Gln425His)
c.2280G>T (p.Gln760His)
c.2460G>T (p.Gln820His)
20g.51789017C=CA2369157370SALL4c.2586G= (p.Gln862=)
c.255G= (p.Gln85=)
c.1275G= (p.Gln425=)
c.2280G= (p.Gln760=)
c.2460G= (p.Gln820=)
20g.51789017C>GCA409006779SALL4c.2586G>C (p.Gln862His)
c.255G>C (p.Gln85His)
c.1275G>C (p.Gln425His)
c.2280G>C (p.Gln760His)
c.2460G>C (p.Gln820His)
20g.51789017C>TCA511025932SALL4c.2586G>A (p.Gln862=)
c.255G>A (p.Gln85=)
c.1275G>A (p.Gln425=)
c.2280G>A (p.Gln760=)
c.2460G>A (p.Gln820=)
 dbSNP
20g.51789018T>ACA409006780SALL4c.2585A>T (p.Gln862Leu)
c.254A>T (p.Gln85Leu)
c.1274A>T (p.Gln425Leu)
c.2279A>T (p.Gln760Leu)
c.2459A>T (p.Gln820Leu)
20g.51789018T>CCA409006781SALL4c.2585A>G (p.Gln862Arg)
c.254A>G (p.Gln85Arg)
c.1274A>G (p.Gln425Arg)
c.2279A>G (p.Gln760Arg)
c.2459A>G (p.Gln820Arg)
20g.51789018T>GCA409006782SALL4c.2585A>C (p.Gln862Pro)
c.254A>C (p.Gln85Pro)
c.1274A>C (p.Gln425Pro)
c.2279A>C (p.Gln760Pro)
c.2459A>C (p.Gln820Pro)
20g.51789019G>ACA409006783SALL4c.2584C>T (p.Gln862Ter)
c.253C>T (p.Gln85Ter)
c.1273C>T (p.Gln425Ter)
c.2278C>T (p.Gln760Ter)
c.2458C>T (p.Gln820Ter)
20g.51789019G>CCA409006784SALL4c.2584C>G (p.Gln862Glu)
c.253C>G (p.Gln85Glu)
c.1273C>G (p.Gln425Glu)
c.2278C>G (p.Gln760Glu)
c.2458C>G (p.Gln820Glu)
20g.51789019G>TCA409006785SALL4c.2584C>A (p.Gln862Lys)
c.253C>A (p.Gln85Lys)
c.1273C>A (p.Gln425Lys)
c.2278C>A (p.Gln760Lys)
c.2458C>A (p.Gln820Lys)
20g.51789020G>ACA511025937SALL4c.2583C>T (p.Ala861=)
c.252C>T (p.Ala84=)
c.1272C>T (p.Ala424=)
c.2277C>T (p.Ala759=)
c.2457C>T (p.Ala819=)
 dbSNP gnomAD v2 gnomAD v4
20g.51789020G>CCA511025936SALL4c.2583C>G (p.Ala861=)
c.252C>G (p.Ala84=)
c.1272C>G (p.Ala424=)
c.2277C>G (p.Ala759=)
c.2457C>G (p.Ala819=)
20g.51789020G=CA2369157371SALL4c.2583C= (p.Ala861=)
c.252C= (p.Ala84=)
c.1272C= (p.Ala424=)
c.2277C= (p.Ala759=)
c.2457C= (p.Ala819=)
20g.51789020G>TCA511025935SALL4c.2583C>A (p.Ala861=)
c.252C>A (p.Ala84=)
c.1272C>A (p.Ala424=)
c.2277C>A (p.Ala759=)
c.2457C>A (p.Ala819=)
20g.51789021G>ACA409006786SALL4c.2582C>T (p.Ala861Val)
c.251C>T (p.Ala84Val)
c.1271C>T (p.Ala424Val)
c.2276C>T (p.Ala759Val)
c.2456C>T (p.Ala819Val)
 dbSNP gnomAD v2 gnomAD v4
20g.51789021G>CCA409006787SALL4c.2582C>G (p.Ala861Gly)
c.251C>G (p.Ala84Gly)
c.1271C>G (p.Ala424Gly)
c.2276C>G (p.Ala759Gly)
c.2456C>G (p.Ala819Gly)
 gnomAD v4
20g.51789021G=CA2369157372SALL4c.2582C= (p.Ala861=)
c.251C= (p.Ala84=)
c.1271C= (p.Ala424=)
c.2276C= (p.Ala759=)
c.2456C= (p.Ala819=)
20g.51789021G>TCA409006788SALL4c.2582C>A (p.Ala861Asp)
c.251C>A (p.Ala84Asp)
c.1271C>A (p.Ala424Asp)
c.2276C>A (p.Ala759Asp)
c.2456C>A (p.Ala819Asp)
20g.51789022C>ACA409006791SALL4c.2581G>T (p.Ala861Ser)
c.250G>T (p.Ala84Ser)
c.1270G>T (p.Ala424Ser)
c.2275G>T (p.Ala759Ser)
c.2455G>T (p.Ala819Ser)
20g.51789022C>GCA409006790SALL4c.2581G>C (p.Ala861Pro)
c.250G>C (p.Ala84Pro)
c.1270G>C (p.Ala424Pro)
c.2275G>C (p.Ala759Pro)
c.2455G>C (p.Ala819Pro)
20g.51789022C>TCA409006789SALL4c.2581G>A (p.Ala861Thr)
c.250G>A (p.Ala84Thr)
c.1270G>A (p.Ala424Thr)
c.2275G>A (p.Ala759Thr)
c.2455G>A (p.Ala819Thr)
20g.51789023T>ACA511025941SALL4c.2580A>T (p.Ala860=)
c.249A>T (p.Ala83=)
c.1269A>T (p.Ala423=)
c.2274A>T (p.Ala758=)
c.2454A>T (p.Ala818=)
20g.51789023T>CCA511025943SALL4c.2580A>G (p.Ala860=)
c.249A>G (p.Ala83=)
c.1269A>G (p.Ala423=)
c.2274A>G (p.Ala758=)
c.2454A>G (p.Ala818=)
20g.51789023T>GCA511025942SALL4c.2580A>C (p.Ala860=)
c.249A>C (p.Ala83=)
c.1269A>C (p.Ala423=)
c.2274A>C (p.Ala758=)
c.2454A>C (p.Ala818=)
20g.51789024G>ACA9912046SALL4c.2579C>T (p.Ala860Val)
c.248C>T (p.Ala83Val)
c.1268C>T (p.Ala423Val)
c.2273C>T (p.Ala758Val)
c.2453C>T (p.Ala818Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51789024G>CCA409006792SALL4c.2579C>G (p.Ala860Gly)
c.248C>G (p.Ala83Gly)
c.1268C>G (p.Ala423Gly)
c.2273C>G (p.Ala758Gly)
c.2453C>G (p.Ala818Gly)
20g.51789024G=CA2369157373SALL4c.2579C= (p.Ala860=)
c.248C= (p.Ala83=)
c.1268C= (p.Ala423=)
c.2273C= (p.Ala758=)
c.2453C= (p.Ala818=)
20g.51789024G>TCA409006793SALL4c.2579C>A (p.Ala860Glu)
c.248C>A (p.Ala83Glu)
c.1268C>A (p.Ala423Glu)
c.2273C>A (p.Ala758Glu)
c.2453C>A (p.Ala818Glu)
20g.51789025C>ACA409006794SALL4c.2578G>T (p.Ala860Ser)
c.247G>T (p.Ala83Ser)
c.1267G>T (p.Ala423Ser)
c.2272G>T (p.Ala758Ser)
c.2452G>T (p.Ala818Ser)
 COSMIC
20g.51789025C=CA2369157374SALL4c.2578G= (p.Ala860=)
c.247G= (p.Ala83=)
c.1267G= (p.Ala423=)
c.2272G= (p.Ala758=)
c.2452G= (p.Ala818=)
20g.51789025C>GCA409006795SALL4c.2578G>C (p.Ala860Pro)
c.247G>C (p.Ala83Pro)
c.1267G>C (p.Ala423Pro)
c.2272G>C (p.Ala758Pro)
c.2452G>C (p.Ala818Pro)
20g.51789025C>TCA9912047SALL4c.2578G>A (p.Ala860Thr)
c.247G>A (p.Ala83Thr)
c.1267G>A (p.Ala423Thr)
c.2272G>A (p.Ala758Thr)
c.2452G>A (p.Ala818Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51789026T>ACA409006796SALL4c.2577A>T (p.Leu859Phe)
c.246A>T (p.Leu82Phe)
c.1266A>T (p.Leu422Phe)
c.2271A>T (p.Leu757Phe)
c.2451A>T (p.Leu817Phe)
20g.51789026T>CCA511025944SALL4c.2577A>G (p.Leu859=)
c.246A>G (p.Leu82=)
c.1266A>G (p.Leu422=)
c.2271A>G (p.Leu757=)
c.2451A>G (p.Leu817=)
20g.51789026T>GCA409006797SALL4c.2577A>C (p.Leu859Phe)
c.246A>C (p.Leu82Phe)
c.1266A>C (p.Leu422Phe)
c.2271A>C (p.Leu757Phe)
c.2451A>C (p.Leu817Phe)
20g.51789027A>CCA409006798SALL4c.2576T>G (p.Leu859Ter)
c.245T>G (p.Leu82Ter)
c.1265T>G (p.Leu422Ter)
c.2270T>G (p.Leu757Ter)
c.2450T>G (p.Leu817Ter)
20g.51789027A>GCA409006799SALL4c.2576T>C (p.Leu859Ser)
c.245T>C (p.Leu82Ser)
c.1265T>C (p.Leu422Ser)
c.2270T>C (p.Leu757Ser)
c.2450T>C (p.Leu817Ser)
 gnomAD v4
20g.51789027A>TCA409006800SALL4c.2576T>A (p.Leu859Ter)
c.245T>A (p.Leu82Ter)
c.1265T>A (p.Leu422Ter)
c.2270T>A (p.Leu757Ter)
c.2450T>A (p.Leu817Ter)
20g.51789028A>CCA409006801SALL4c.2575T>G (p.Leu859Val)
c.244T>G (p.Leu82Val)
c.1264T>G (p.Leu422Val)
c.2269T>G (p.Leu757Val)
c.2449T>G (p.Leu817Val)
20g.51789028A>GCA511025945SALL4c.2575T>C (p.Leu859=)
c.244T>C (p.Leu82=)
c.1264T>C (p.Leu422=)
c.2269T>C (p.Leu757=)
c.2449T>C (p.Leu817=)
20g.51789028A>TCA409006802SALL4c.2575T>A (p.Leu859Ile)
c.244T>A (p.Leu82Ile)
c.1264T>A (p.Leu422Ile)
c.2269T>A (p.Leu757Ile)
c.2449T>A (p.Leu817Ile)
20g.51789029C>ACA409006803SALL4c.2574G>T (p.Leu858Phe)
c.243G>T (p.Leu81Phe)
c.1263G>T (p.Leu421Phe)
c.2268G>T (p.Leu756Phe)
c.2448G>T (p.Leu816Phe)
20g.51789029C>GCA409006804SALL4c.2574G>C (p.Leu858Phe)
c.243G>C (p.Leu81Phe)
c.1263G>C (p.Leu421Phe)
c.2268G>C (p.Leu756Phe)
c.2448G>C (p.Leu816Phe)
20g.51789029C>TCA511025949SALL4c.2574G>A (p.Leu858=)
c.243G>A (p.Leu81=)
c.1263G>A (p.Leu421=)
c.2268G>A (p.Leu756=)
c.2448G>A (p.Leu816=)
20g.51789030A=CA2369157375SALL4c.2573T= (p.Leu858=)
c.242T= (p.Leu81=)
c.1262T= (p.Leu421=)
c.2267T= (p.Leu756=)
c.2447T= (p.Leu816=)
20g.51789030A>CCA9912048SALL4c.2573T>G (p.Leu858Trp)
c.242T>G (p.Leu81Trp)
c.1262T>G (p.Leu421Trp)
c.2267T>G (p.Leu756Trp)
c.2447T>G (p.Leu816Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51789030A>GCA409006805SALL4c.2573T>C (p.Leu858Ser)
c.242T>C (p.Leu81Ser)
c.1262T>C (p.Leu421Ser)
c.2267T>C (p.Leu756Ser)
c.2447T>C (p.Leu816Ser)
20g.51789030A>TCA409006806SALL4c.2573T>A (p.Leu858Ter)
c.242T>A (p.Leu81Ter)
c.1262T>A (p.Leu421Ter)
c.2267T>A (p.Leu756Ter)
c.2447T>A (p.Leu816Ter)
20g.51789031A>CCA409006807SALL4c.2572T>G (p.Leu858Val)
c.241T>G (p.Leu81Val)
c.1261T>G (p.Leu421Val)
c.2266T>G (p.Leu756Val)
c.2446T>G (p.Leu816Val)
20g.51789031A>GCA511025950SALL4c.2572T>C (p.Leu858=)
c.241T>C (p.Leu81=)
c.1261T>C (p.Leu421=)
c.2266T>C (p.Leu756=)
c.2446T>C (p.Leu816=)
 gnomAD v4
20g.51789031A>TCA409006808SALL4c.2572T>A (p.Leu858Met)
c.241T>A (p.Leu81Met)
c.1261T>A (p.Leu421Met)
c.2266T>A (p.Leu756Met)
c.2446T>A (p.Leu816Met)
20g.51789032A>CCA511025951SALL4c.2571T>G (p.Pro857=)
c.240T>G (p.Pro80=)
c.1260T>G (p.Pro420=)
c.2265T>G (p.Pro755=)
c.2445T>G (p.Pro815=)
20g.51789032A>GCA511025952SALL4c.2571T>C (p.Pro857=)
c.240T>C (p.Pro80=)
c.1260T>C (p.Pro420=)
c.2265T>C (p.Pro755=)
c.2445T>C (p.Pro815=)
20g.51789032A>TCA511025953SALL4c.2571T>A (p.Pro857=)
c.240T>A (p.Pro80=)
c.1260T>A (p.Pro420=)
c.2265T>A (p.Pro755=)
c.2445T>A (p.Pro815=)
20g.51789033G>ACA409006809SALL4c.2570C>T (p.Pro857Leu)
c.239C>T (p.Pro80Leu)
c.1259C>T (p.Pro420Leu)
c.2264C>T (p.Pro755Leu)
c.2444C>T (p.Pro815Leu)
 COSMIC
20g.51789033G>CCA409006810SALL4c.2570C>G (p.Pro857Arg)
c.239C>G (p.Pro80Arg)
c.1259C>G (p.Pro420Arg)
c.2264C>G (p.Pro755Arg)
c.2444C>G (p.Pro815Arg)
20g.51789033G>TCA409006811SALL4c.2570C>A (p.Pro857His)
c.239C>A (p.Pro80His)
c.1259C>A (p.Pro420His)
c.2264C>A (p.Pro755His)
c.2444C>A (p.Pro815His)
20g.51789034G>ACA409006812SALL4c.2569C>T (p.Pro857Ser)
c.238C>T (p.Pro80Ser)
c.1258C>T (p.Pro420Ser)
c.2263C>T (p.Pro755Ser)
c.2443C>T (p.Pro815Ser)
 gnomAD v4
20g.51789034G>CCA9912049SALL4c.2569C>G (p.Pro857Ala)
c.238C>G (p.Pro80Ala)
c.1258C>G (p.Pro420Ala)
c.2263C>G (p.Pro755Ala)
c.2443C>G (p.Pro815Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51789034G=CA2369157376SALL4c.2569C= (p.Pro857=)
c.238C= (p.Pro80=)
c.1258C= (p.Pro420=)
c.2263C= (p.Pro755=)
c.2443C= (p.Pro815=)
20g.51789034G>TCA409006813SALL4c.2569C>A (p.Pro857Thr)
c.238C>A (p.Pro80Thr)
c.1258C>A (p.Pro420Thr)
c.2263C>A (p.Pro755Thr)
c.2443C>A (p.Pro815Thr)
20g.51789035G>ACA511025954SALL4c.2568C>T (p.Thr856=)
c.237C>T (p.Thr79=)
c.1257C>T (p.Thr419=)
c.2262C>T (p.Thr754=)
c.2442C>T (p.Thr814=)
 dbSNP gnomAD v2 gnomAD v4
20g.51789035G>CCA511025955SALL4c.2568C>G (p.Thr856=)
c.237C>G (p.Thr79=)
c.1257C>G (p.Thr419=)
c.2262C>G (p.Thr754=)
c.2442C>G (p.Thr814=)
20g.51789035G=CA2369157377SALL4c.2568C= (p.Thr856=)
c.237C= (p.Thr79=)
c.1257C= (p.Thr419=)
c.2262C= (p.Thr754=)
c.2442C= (p.Thr814=)
20g.51789035G>TCA511025956SALL4c.2568C>A (p.Thr856=)
c.237C>A (p.Thr79=)
c.1257C>A (p.Thr419=)
c.2262C>A (p.Thr754=)
c.2442C>A (p.Thr814=)
20g.51789036G>ACA409006816SALL4c.2567C>T (p.Thr856Ile)
c.236C>T (p.Thr79Ile)
c.1256C>T (p.Thr419Ile)
c.2261C>T (p.Thr754Ile)
c.2441C>T (p.Thr814Ile)
20g.51789036G>CCA409006815SALL4c.2567C>G (p.Thr856Ser)
c.236C>G (p.Thr79Ser)
c.1256C>G (p.Thr419Ser)
c.2261C>G (p.Thr754Ser)
c.2441C>G (p.Thr814Ser)
20g.51789036G>TCA409006814SALL4c.2567C>A (p.Thr856Asn)
c.236C>A (p.Thr79Asn)
c.1256C>A (p.Thr419Asn)
c.2261C>A (p.Thr754Asn)
c.2441C>A (p.Thr814Asn)
 gnomAD v4
20g.51789037T>ACA409006817SALL4c.2566A>T (p.Thr856Ser)
c.235A>T (p.Thr79Ser)
c.1255A>T (p.Thr419Ser)
c.2260A>T (p.Thr754Ser)
c.2440A>T (p.Thr814Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.51789037T>CCA409006819SALL4c.2566A>G (p.Thr856Ala)
c.235A>G (p.Thr79Ala)
c.1255A>G (p.Thr419Ala)
c.2260A>G (p.Thr754Ala)
c.2440A>G (p.Thr814Ala)
20g.51789037T>GCA409006818SALL4c.2566A>C (p.Thr856Pro)
c.235A>C (p.Thr79Pro)
c.1255A>C (p.Thr419Pro)
c.2260A>C (p.Thr754Pro)
c.2440A>C (p.Thr814Pro)
 dbSNP
20g.51789037T=CA2369157378SALL4c.2566A= (p.Thr856=)
c.235A= (p.Thr79=)
c.1255A= (p.Thr419=)
c.2260A= (p.Thr754=)
c.2440A= (p.Thr814=)
20g.51789038C>ACA409006820SALL4c.2565G>T (p.Met855Ile)
c.234G>T (p.Met78Ile)
c.1254G>T (p.Met418Ile)
c.2259G>T (p.Met753Ile)
c.2439G>T (p.Met813Ile)
20g.51789038C=CA2369157379SALL4c.2565G= (p.Met855=)
c.234G= (p.Met78=)
c.1254G= (p.Met418=)
c.2259G= (p.Met753=)
c.2439G= (p.Met813=)
20g.51789038C>GCA409006822SALL4c.2565G>C (p.Met855Ile)
c.234G>C (p.Met78Ile)
c.1254G>C (p.Met418Ile)
c.2259G>C (p.Met753Ile)
c.2439G>C (p.Met813Ile)
20g.51789038C>TCA409006821SALL4c.2565G>A (p.Met855Ile)
c.234G>A (p.Met78Ile)
c.1254G>A (p.Met418Ile)
c.2259G>A (p.Met753Ile)
c.2439G>A (p.Met813Ile)
 dbSNP gnomAD v2 gnomAD v4
20g.51789040_51789051delCA2653358931SALL4c.2554_2565del (p.Ser852_Met855del)
c.223_234del (p.Ser75_Met78del)
c.1243_1254del (p.Ser415_Met418del)
c.2248_2259del (p.Ser750_Met753del)
c.2428_2439del (p.Ser810_Met813del)
 gnomAD v4
20g.51789039A>CCA409006823SALL4c.2564T>G (p.Met855Arg)
c.233T>G (p.Met78Arg)
c.1253T>G (p.Met418Arg)
c.2258T>G (p.Met753Arg)
c.2438T>G (p.Met813Arg)
20g.51789039A>GCA409006824SALL4c.2564T>C (p.Met855Thr)
c.233T>C (p.Met78Thr)
c.1253T>C (p.Met418Thr)
c.2258T>C (p.Met753Thr)
c.2438T>C (p.Met813Thr)
 gnomAD v4
20g.51789039A>TCA409006825SALL4c.2564T>A (p.Met855Lys)
c.233T>A (p.Met78Lys)
c.1253T>A (p.Met418Lys)
c.2258T>A (p.Met753Lys)
c.2438T>A (p.Met813Lys)
20g.51789040delCA645610838SALL4c.2563del (p.Met855Ter)
c.232del (p.Met78Ter)
c.1252del (p.Met418Ter)
c.2257del (p.Met753Ter)
c.2437del (p.Met813Ter)
 COSMIC
20g.51789040T>ACA409006826SALL4c.2563A>T (p.Met855Leu)
c.232A>T (p.Met78Leu)
c.1252A>T (p.Met418Leu)
c.2257A>T (p.Met753Leu)
c.2437A>T (p.Met813Leu)
20g.51789040T>CCA409006827SALL4c.2563A>G (p.Met855Val)
c.232A>G (p.Met78Val)
c.1252A>G (p.Met418Val)
c.2257A>G (p.Met753Val)
c.2437A>G (p.Met813Val)
20g.51789040T>GCA9912050SALL4c.2563A>C (p.Met855Leu)
c.232A>C (p.Met78Leu)
c.1252A>C (p.Met418Leu)
c.2257A>C (p.Met753Leu)
c.2437A>C (p.Met813Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51789040T=CA2369157380SALL4c.2563A= (p.Met855=)
c.232A= (p.Met78=)
c.1252A= (p.Met418=)
c.2257A= (p.Met753=)
c.2437A= (p.Met813=)
20g.51789041C>ACA511025958SALL4c.2562G>T (p.Gly854=)
c.231G>T (p.Gly77=)
c.1251G>T (p.Gly417=)
c.2256G>T (p.Gly752=)
c.2436G>T (p.Gly812=)
20g.51789041C>GCA511025959SALL4c.2562G>C (p.Gly854=)
c.231G>C (p.Gly77=)
c.1251G>C (p.Gly417=)
c.2256G>C (p.Gly752=)
c.2436G>C (p.Gly812=)
20g.51789041C>TCA511025961SALL4c.2562G>A (p.Gly854=)
c.231G>A (p.Gly77=)
c.1251G>A (p.Gly417=)
c.2256G>A (p.Gly752=)
c.2436G>A (p.Gly812=)
 COSMIC
20g.51789042C>ACA409006828SALL4c.2561G>T (p.Gly854Val)
c.230G>T (p.Gly77Val)
c.1250G>T (p.Gly417Val)
c.2255G>T (p.Gly752Val)
c.2435G>T (p.Gly812Val)
20g.51789042C>GCA409006829SALL4c.2561G>C (p.Gly854Ala)
c.230G>C (p.Gly77Ala)
c.1250G>C (p.Gly417Ala)
c.2255G>C (p.Gly752Ala)
c.2435G>C (p.Gly812Ala)
20g.51789042C>TCA409006830SALL4c.2561G>A (p.Gly854Glu)
c.230G>A (p.Gly77Glu)
c.1250G>A (p.Gly417Glu)
c.2255G>A (p.Gly752Glu)
c.2435G>A (p.Gly812Glu)
20g.51789043C>ACA409006831SALL4c.2560G>T (p.Gly854Trp)
c.229G>T (p.Gly77Trp)
c.1249G>T (p.Gly417Trp)
c.2254G>T (p.Gly752Trp)
c.2434G>T (p.Gly812Trp)
20g.51789043C=CA2369157381SALL4c.2560G= (p.Gly854=)
c.229G= (p.Gly77=)
c.1249G= (p.Gly417=)
c.2254G= (p.Gly752=)
c.2434G= (p.Gly812=)
20g.51789043C>GCA409006832SALL4c.2560G>C (p.Gly854Arg)
c.229G>C (p.Gly77Arg)
c.1249G>C (p.Gly417Arg)
c.2254G>C (p.Gly752Arg)
c.2434G>C (p.Gly812Arg)
20g.51789043C>TCA315371084SALL4c.2560G>A (p.Gly854Arg)
c.229G>A (p.Gly77Arg)
c.1249G>A (p.Gly417Arg)
c.2254G>A (p.Gly752Arg)
c.2434G>A (p.Gly812Arg)
 dbSNP
20g.51789044T>ACA511025966SALL4c.2559A>T (p.Pro853=)
c.228A>T (p.Pro76=)
c.1248A>T (p.Pro416=)
c.2253A>T (p.Pro751=)
c.2433A>T (p.Pro811=)
20g.51789044T>CCA511025964SALL4c.2559A>G (p.Pro853=)
c.228A>G (p.Pro76=)
c.1248A>G (p.Pro416=)
c.2253A>G (p.Pro751=)
c.2433A>G (p.Pro811=)
 dbSNP
20g.51789044T>GCA511025965SALL4c.2559A>C (p.Pro853=)
c.228A>C (p.Pro76=)
c.1248A>C (p.Pro416=)
c.2253A>C (p.Pro751=)
c.2433A>C (p.Pro811=)
20g.51789044T=CA2369157382SALL4c.2559A= (p.Pro853=)
c.228A= (p.Pro76=)
c.1248A= (p.Pro416=)
c.2253A= (p.Pro751=)
c.2433A= (p.Pro811=)
20g.51789045G>ACA409006833SALL4c.2558C>T (p.Pro853Leu)
c.227C>T (p.Pro76Leu)
c.1247C>T (p.Pro416Leu)
c.2252C>T (p.Pro751Leu)
c.2432C>T (p.Pro811Leu)
 gnomAD v4 COSMIC
20g.51789045G>CCA409006835SALL4c.2558C>G (p.Pro853Arg)
c.227C>G (p.Pro76Arg)
c.1247C>G (p.Pro416Arg)
c.2252C>G (p.Pro751Arg)
c.2432C>G (p.Pro811Arg)
20g.51789045G>TCA409006834SALL4c.2558C>A (p.Pro853Gln)
c.227C>A (p.Pro76Gln)
c.1247C>A (p.Pro416Gln)
c.2252C>A (p.Pro751Gln)
c.2432C>A (p.Pro811Gln)
20g.51789046G>ACA409006836SALL4c.2557C>T (p.Pro853Ser)
c.226C>T (p.Pro76Ser)
c.1246C>T (p.Pro416Ser)
c.2251C>T (p.Pro751Ser)
c.2431C>T (p.Pro811Ser)
 dbSNP gnomAD v2 gnomAD v4
20g.51789046G>CCA409006837SALL4c.2557C>G (p.Pro853Ala)
c.226C>G (p.Pro76Ala)
c.1246C>G (p.Pro416Ala)
c.2251C>G (p.Pro751Ala)
c.2431C>G (p.Pro811Ala)
20g.51789046G=CA2369157383SALL4c.2557C= (p.Pro853=)
c.226C= (p.Pro76=)
c.1246C= (p.Pro416=)
c.2251C= (p.Pro751=)
c.2431C= (p.Pro811=)
20g.51789046G>TCA409006838SALL4c.2557C>A (p.Pro853Thr)
c.226C>A (p.Pro76Thr)
c.1246C>A (p.Pro416Thr)
c.2251C>A (p.Pro751Thr)
c.2431C>A (p.Pro811Thr)
20g.51789047G>ACA511025967SALL4c.2556C>T (p.Ser852=)
c.225C>T (p.Ser75=)
c.1245C>T (p.Ser415=)
c.2250C>T (p.Ser750=)
c.2430C>T (p.Ser810=)
 COSMIC
20g.51789047G>CCA511025968SALL4c.2556C>G (p.Ser852=)
c.225C>G (p.Ser75=)
c.1245C>G (p.Ser415=)
c.2250C>G (p.Ser750=)
c.2430C>G (p.Ser810=)
20g.51789047G>TCA511025969SALL4c.2556C>A (p.Ser852=)
c.225C>A (p.Ser75=)
c.1245C>A (p.Ser415=)
c.2250C>A (p.Ser750=)
c.2430C>A (p.Ser810=)
20g.51789048G>ACA315371090SALL4c.2555C>T (p.Ser852Phe)
c.224C>T (p.Ser75Phe)
c.1244C>T (p.Ser415Phe)
c.2249C>T (p.Ser750Phe)
c.2429C>T (p.Ser810Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.51789048G>CCA409006839SALL4c.2555C>G (p.Ser852Cys)
c.224C>G (p.Ser75Cys)
c.1244C>G (p.Ser415Cys)
c.2249C>G (p.Ser750Cys)
c.2429C>G (p.Ser810Cys)
 gnomAD v4
20g.51789048G=CA2369157384SALL4c.2555C= (p.Ser852=)
c.224C= (p.Ser75=)
c.1244C= (p.Ser415=)
c.2249C= (p.Ser750=)
c.2429C= (p.Ser810=)
20g.51789048G>TCA409006840SALL4c.2555C>A (p.Ser852Tyr)
c.224C>A (p.Ser75Tyr)
c.1244C>A (p.Ser415Tyr)
c.2249C>A (p.Ser750Tyr)
c.2429C>A (p.Ser810Tyr)
20g.51789049A>CCA409006841SALL4c.2554T>G (p.Ser852Ala)
c.223T>G (p.Ser75Ala)
c.1243T>G (p.Ser415Ala)
c.2248T>G (p.Ser750Ala)
c.2428T>G (p.Ser810Ala)
20g.51789049A>GCA409006842SALL4c.2554T>C (p.Ser852Pro)
c.223T>C (p.Ser75Pro)
c.1243T>C (p.Ser415Pro)
c.2248T>C (p.Ser750Pro)
c.2428T>C (p.Ser810Pro)
20g.51789049A>TCA409006843SALL4c.2554T>A (p.Ser852Thr)
c.223T>A (p.Ser75Thr)
c.1243T>A (p.Ser415Thr)
c.2248T>A (p.Ser750Thr)
c.2428T>A (p.Ser810Thr)
20g.51789050C>ACA409006845SALL4c.2553G>T (p.Leu851Phe)
c.222G>T (p.Leu74Phe)
c.1242G>T (p.Leu414Phe)
c.2247G>T (p.Leu749Phe)
c.2427G>T (p.Leu809Phe)
20g.51789050C>GCA409006844SALL4c.2553G>C (p.Leu851Phe)
c.222G>C (p.Leu74Phe)
c.1242G>C (p.Leu414Phe)
c.2247G>C (p.Leu749Phe)
c.2427G>C (p.Leu809Phe)
20g.51789050C>TCA511025970SALL4c.2553G>A (p.Leu851=)
c.222G>A (p.Leu74=)
c.1242G>A (p.Leu414=)
c.2247G>A (p.Leu749=)
c.2427G>A (p.Leu809=)
20g.51789051A>CCA409006846SALL4c.2552T>G (p.Leu851Trp)
c.221T>G (p.Leu74Trp)
c.1241T>G (p.Leu414Trp)
c.2246T>G (p.Leu749Trp)
c.2426T>G (p.Leu809Trp)
20g.51789051A>GCA409006847SALL4c.2552T>C (p.Leu851Ser)
c.221T>C (p.Leu74Ser)
c.1241T>C (p.Leu414Ser)
c.2246T>C (p.Leu749Ser)
c.2426T>C (p.Leu809Ser)
20g.51789051A>TCA409006848SALL4c.2552T>A (p.Leu851Ter)
c.221T>A (p.Leu74Ter)
c.1241T>A (p.Leu414Ter)
c.2246T>A (p.Leu749Ter)
c.2426T>A (p.Leu809Ter)
20g.51789052A=CA2369157385SALL4c.2551T= (p.Leu851=)
c.220T= (p.Leu74=)
c.1240T= (p.Leu414=)
c.2245T= (p.Leu749=)
c.2425T= (p.Leu809=)
20g.51789052A>CCA409006849SALL4c.2551T>G (p.Leu851Val)
c.220T>G (p.Leu74Val)
c.1240T>G (p.Leu414Val)
c.2245T>G (p.Leu749Val)
c.2425T>G (p.Leu809Val)
20g.51789052A>GCA511025971SALL4c.2551T>C (p.Leu851=)
c.220T>C (p.Leu74=)
c.1240T>C (p.Leu414=)
c.2245T>C (p.Leu749=)
c.2425T>C (p.Leu809=)
20g.51789052A>TCA9912051SALL4c.2551T>A (p.Leu851Met)
c.220T>A (p.Leu74Met)
c.1240T>A (p.Leu414Met)
c.2245T>A (p.Leu749Met)
c.2425T>A (p.Leu809Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51789053T>ACA511025972SALL4c.2550A>T (p.Thr850=)
c.219A>T (p.Thr73=)
c.1239A>T (p.Thr413=)
c.2244A>T (p.Thr748=)
c.2424A>T (p.Thr808=)
20g.51789053T>CCA511025973SALL4c.2550A>G (p.Thr850=)
c.219A>G (p.Thr73=)
c.1239A>G (p.Thr413=)
c.2244A>G (p.Thr748=)
c.2424A>G (p.Thr808=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.51789053T>GCA511025974SALL4c.2550A>C (p.Thr850=)
c.219A>C (p.Thr73=)
c.1239A>C (p.Thr413=)
c.2244A>C (p.Thr748=)
c.2424A>C (p.Thr808=)
20g.51789053T=CA2369157386SALL4c.2550A= (p.Thr850=)
c.219A= (p.Thr73=)
c.1239A= (p.Thr413=)
c.2244A= (p.Thr748=)
c.2424A= (p.Thr808=)
20g.51789054G>ACA409006850SALL4c.2549C>T (p.Thr850Ile)
c.218C>T (p.Thr73Ile)
c.1238C>T (p.Thr413Ile)
c.2243C>T (p.Thr748Ile)
c.2423C>T (p.Thr808Ile)
20g.51789054G>CCA409006851SALL4c.2549C>G (p.Thr850Arg)
c.218C>G (p.Thr73Arg)
c.1238C>G (p.Thr413Arg)
c.2243C>G (p.Thr748Arg)
c.2423C>G (p.Thr808Arg)
20g.51789054G>TCA409006852SALL4c.2549C>A (p.Thr850Lys)
c.218C>A (p.Thr73Lys)
c.1238C>A (p.Thr413Lys)
c.2243C>A (p.Thr748Lys)
c.2423C>A (p.Thr808Lys)
20g.51789055T>ACA409006853SALL4c.2548A>T (p.Thr850Ser)
c.217A>T (p.Thr73Ser)
c.1237A>T (p.Thr413Ser)
c.2242A>T (p.Thr748Ser)
c.2422A>T (p.Thr808Ser)
20g.51789055T>CCA409006854SALL4c.2548A>G (p.Thr850Ala)
c.217A>G (p.Thr73Ala)
c.1237A>G (p.Thr413Ala)
c.2242A>G (p.Thr748Ala)
c.2422A>G (p.Thr808Ala)
20g.51789055T>GCA409006855SALL4c.2548A>C (p.Thr850Pro)
c.217A>C (p.Thr73Pro)
c.1237A>C (p.Thr413Pro)
c.2242A>C (p.Thr748Pro)
c.2422A>C (p.Thr808Pro)
20g.51789056C>ACA511025975SALL4c.2547G>T (p.Ser849=)
c.216G>T (p.Ser72=)
c.1236G>T (p.Ser412=)
c.2241G>T (p.Ser747=)
c.2421G>T (p.Ser807=)
20g.51789056C=CA2369157387SALL4c.2547G= (p.Ser849=)
c.216G= (p.Ser72=)
c.1236G= (p.Ser412=)
c.2241G= (p.Ser747=)
c.2421G= (p.Ser807=)
20g.51789056C>GCA511025976SALL4c.2547G>C (p.Ser849=)
c.216G>C (p.Ser72=)
c.1236G>C (p.Ser412=)
c.2241G>C (p.Ser747=)
c.2421G>C (p.Ser807=)
20g.51789056C>TCA9912052SALL4c.2547G>A (p.Ser849=)
c.216G>A (p.Ser72=)
c.1236G>A (p.Ser412=)
c.2241G>A (p.Ser747=)
c.2421G>A (p.Ser807=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.51789057G>ACA9912053SALL4c.2546C>T (p.Ser849Leu)
c.215C>T (p.Ser72Leu)
c.1235C>T (p.Ser412Leu)
c.2240C>T (p.Ser747Leu)
c.2420C>T (p.Ser807Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.51789057G>CCA409006856SALL4c.2546C>G (p.Ser849Trp)
c.215C>G (p.Ser72Trp)
c.1235C>G (p.Ser412Trp)
c.2240C>G (p.Ser747Trp)
c.2420C>G (p.Ser807Trp)
20g.51789057G=CA2369157388SALL4c.2546C= (p.Ser849=)
c.215C= (p.Ser72=)
c.1235C= (p.Ser412=)
c.2240C= (p.Ser747=)
c.2420C= (p.Ser807=)
20g.51789057G>TCA409006857SALL4c.2546C>A (p.Ser849Ter)
c.215C>A (p.Ser72Ter)
c.1235C>A (p.Ser412Ter)
c.2240C>A (p.Ser747Ter)
c.2420C>A (p.Ser807Ter)
20g.51789058A>CCA409006858SALL4c.2545T>G (p.Ser849Ala)
c.214T>G (p.Ser72Ala)
c.1234T>G (p.Ser412Ala)
c.2239T>G (p.Ser747Ala)
c.2419T>G (p.Ser807Ala)
20g.51789058A>GCA409006859SALL4c.2545T>C (p.Ser849Pro)
c.214T>C (p.Ser72Pro)
c.1234T>C (p.Ser412Pro)
c.2239T>C (p.Ser747Pro)
c.2419T>C (p.Ser807Pro)
20g.51789058A>TCA409006860SALL4c.2545T>A (p.Ser849Thr)
c.214T>A (p.Ser72Thr)
c.1234T>A (p.Ser412Thr)
c.2239T>A (p.Ser747Thr)
c.2419T>A (p.Ser807Thr)
20g.51789059G>ACA511025977SALL4c.2544C>T (p.Pro848=)
c.213C>T (p.Pro71=)
c.1233C>T (p.Pro411=)
c.2238C>T (p.Pro746=)
c.2418C>T (p.Pro806=)
20g.51789059G>CCA511025978SALL4c.2544C>G (p.Pro848=)
c.213C>G (p.Pro71=)
c.1233C>G (p.Pro411=)
c.2238C>G (p.Pro746=)
c.2418C>G (p.Pro806=)
20g.51789059G>TCA511025979SALL4c.2544C>A (p.Pro848=)
c.213C>A (p.Pro71=)
c.1233C>A (p.Pro411=)
c.2238C>A (p.Pro746=)
c.2418C>A (p.Pro806=)
20g.51789060G>ACA409006861SALL4c.2543C>T (p.Pro848Leu)
c.212C>T (p.Pro71Leu)
c.1232C>T (p.Pro411Leu)
c.2237C>T (p.Pro746Leu)
c.2417C>T (p.Pro806Leu)
20g.51789060G>CCA409006862SALL4c.2543C>G (p.Pro848Arg)
c.212C>G (p.Pro71Arg)
c.1232C>G (p.Pro411Arg)
c.2237C>G (p.Pro746Arg)
c.2417C>G (p.Pro806Arg)
 gnomAD v4
20g.51789060G>TCA409006863SALL4c.2543C>A (p.Pro848His)
c.212C>A (p.Pro71His)
c.1232C>A (p.Pro411His)
c.2237C>A (p.Pro746His)
c.2417C>A (p.Pro806His)
20g.51789061G>ACA409006864SALL4c.2542C>T (p.Pro848Ser)
c.211C>T (p.Pro71Ser)
c.1231C>T (p.Pro411Ser)
c.2236C>T (p.Pro746Ser)
c.2416C>T (p.Pro806Ser)
 dbSNP gnomAD v4
20g.51789061G>CCA409006865SALL4c.2542C>G (p.Pro848Ala)
c.211C>G (p.Pro71Ala)
c.1231C>G (p.Pro411Ala)
c.2236C>G (p.Pro746Ala)
c.2416C>G (p.Pro806Ala)
20g.51789061G=CA2369157389SALL4c.2542C= (p.Pro848=)
c.211C= (p.Pro71=)
c.1231C= (p.Pro411=)
c.2236C= (p.Pro746=)
c.2416C= (p.Pro806=)
20g.51789061G>TCA409006866SALL4c.2542C>A (p.Pro848Thr)
c.211C>A (p.Pro71Thr)
c.1231C>A (p.Pro411Thr)
c.2236C>A (p.Pro746Thr)
c.2416C>A (p.Pro806Thr)
20g.51789062T>ACA315371103SALL4c.2541A>T (p.Gly847=)
c.210A>T (p.Gly70=)
c.1230A>T (p.Gly410=)
c.2235A>T (p.Gly745=)
c.2415A>T (p.Gly805=)
 dbSNP gnomAD v4
20g.51789062T>CCA511025980SALL4c.2541A>G (p.Gly847=)
c.210A>G (p.Gly70=)
c.1230A>G (p.Gly410=)
c.2235A>G (p.Gly745=)
c.2415A>G (p.Gly805=)
 gnomAD v4
20g.51789062T>GCA511025981SALL4c.2541A>C (p.Gly847=)
c.210A>C (p.Gly70=)
c.1230A>C (p.Gly410=)
c.2235A>C (p.Gly745=)
c.2415A>C (p.Gly805=)
 dbSNP
20g.51789062T=CA2369157390SALL4c.2541A= (p.Gly847=)
c.210A= (p.Gly70=)
c.1230A= (p.Gly410=)
c.2235A= (p.Gly745=)
c.2415A= (p.Gly805=)
20g.51789063C>ACA409006867SALL4c.2540G>T (p.Gly847Val)
c.209G>T (p.Gly70Val)
c.1229G>T (p.Gly410Val)
c.2234G>T (p.Gly745Val)
c.2414G>T (p.Gly805Val)
20g.51789063C>GCA409006868SALL4c.2540G>C (p.Gly847Ala)
c.209G>C (p.Gly70Ala)
c.1229G>C (p.Gly410Ala)
c.2234G>C (p.Gly745Ala)
c.2414G>C (p.Gly805Ala)
20g.51789063C>TCA409006869SALL4c.2540G>A (p.Gly847Glu)
c.209G>A (p.Gly70Glu)
c.1229G>A (p.Gly410Glu)
c.2234G>A (p.Gly745Glu)
c.2414G>A (p.Gly805Glu)
20g.51789064C>ACA409006871SALL4c.2539G>T (p.Gly847Ter)
c.208G>T (p.Gly70Ter)
c.1228G>T (p.Gly410Ter)
c.2233G>T (p.Gly745Ter)
c.2413G>T (p.Gly805Ter)
20g.51789064C>GCA409006872SALL4c.2539G>C (p.Gly847Arg)
c.208G>C (p.Gly70Arg)
c.1228G>C (p.Gly410Arg)
c.2233G>C (p.Gly745Arg)
c.2413G>C (p.Gly805Arg)
20g.51789064C>TCA409006870SALL4c.2539G>A (p.Gly847Arg)
c.208G>A (p.Gly70Arg)
c.1228G>A (p.Gly410Arg)
c.2233G>A (p.Gly745Arg)
c.2413G>A (p.Gly805Arg)
20g.51789065C>ACA511025982SALL4c.2538G>T (p.Val846=)
c.207G>T (p.Val69=)
c.1227G>T (p.Val409=)
c.2232G>T (p.Val744=)
c.2412G>T (p.Val804=)
20g.51789065C>GCA511025983SALL4c.2538G>C (p.Val846=)
c.207G>C (p.Val69=)
c.1227G>C (p.Val409=)
c.2232G>C (p.Val744=)
c.2412G>C (p.Val804=)
20g.51789065C>TCA511025984SALL4c.2538G>A (p.Val846=)
c.207G>A (p.Val69=)
c.1227G>A (p.Val409=)
c.2232G>A (p.Val744=)
c.2412G>A (p.Val804=)
20g.51789066A>CCA409006873SALL4c.2537T>G (p.Val846Gly)
c.206T>G (p.Val69Gly)
c.1226T>G (p.Val409Gly)
c.2231T>G (p.Val744Gly)
c.2411T>G (p.Val804Gly)
20g.51789066A>GCA409006874SALL4c.2537T>C (p.Val846Ala)
c.206T>C (p.Val69Ala)
c.1226T>C (p.Val409Ala)
c.2231T>C (p.Val744Ala)
c.2411T>C (p.Val804Ala)
 dbSNP gnomAD v4
20g.51789066A>TCA409006875SALL4c.2537T>A (p.Val846Glu)
c.206T>A (p.Val69Glu)
c.1226T>A (p.Val409Glu)
c.2231T>A (p.Val744Glu)
c.2411T>A (p.Val804Glu)
20g.51789067C>ACA409006876SALL4c.2536G>T (p.Val846Leu)
c.205G>T (p.Val69Leu)
c.1225G>T (p.Val409Leu)
c.2230G>T (p.Val744Leu)
c.2410G>T (p.Val804Leu)
20g.51789067C>GCA409006877SALL4c.2536G>C (p.Val846Leu)
c.205G>C (p.Val69Leu)
c.1225G>C (p.Val409Leu)
c.2230G>C (p.Val744Leu)
c.2410G>C (p.Val804Leu)
20g.51789067C>TCA409006878SALL4c.2536G>A (p.Val846Met)
c.205G>A (p.Val69Met)
c.1225G>A (p.Val409Met)
c.2230G>A (p.Val744Met)
c.2410G>A (p.Val804Met)
20g.51789067_51789068delinsTCA2695229963SALL4c.2535_2536delinsA (p.Phe845LeufsTer11)
c.204_205delinsA (p.Phe68LeufsTer11)
c.1224_1225delinsA (p.Phe408LeufsTer11)
c.2229_2230delinsA (p.Phe743LeufsTer11)
c.2409_2410delinsA (p.Phe803LeufsTer11)
20g.51789068A>CCA409006880SALL4c.2535T>G (p.Phe845Leu)
c.204T>G (p.Phe68Leu)
c.1224T>G (p.Phe408Leu)
c.2229T>G (p.Phe743Leu)
c.2409T>G (p.Phe803Leu)
20g.51789068A>GCA511025985SALL4c.2535T>C (p.Phe845=)
c.204T>C (p.Phe68=)
c.1224T>C (p.Phe408=)
c.2229T>C (p.Phe743=)
c.2409T>C (p.Phe803=)
20g.51789068A>TCA409006879SALL4c.2535T>A (p.Phe845Leu)
c.204T>A (p.Phe68Leu)
c.1224T>A (p.Phe408Leu)
c.2229T>A (p.Phe743Leu)
c.2409T>A (p.Phe803Leu)
20g.51789069A>CCA409006881SALL4c.2534T>G (p.Phe845Cys)
c.203T>G (p.Phe68Cys)
c.1223T>G (p.Phe408Cys)
c.2228T>G (p.Phe743Cys)
c.2408T>G (p.Phe803Cys)
20g.51789069A>GCA409006882SALL4c.2534T>C (p.Phe845Ser)
c.203T>C (p.Phe68Ser)
c.1223T>C (p.Phe408Ser)
c.2228T>C (p.Phe743Ser)
c.2408T>C (p.Phe803Ser)
 gnomAD v4
20g.51789069A>TCA409006883SALL4c.2534T>A (p.Phe845Tyr)
c.203T>A (p.Phe68Tyr)
c.1223T>A (p.Phe408Tyr)
c.2228T>A (p.Phe743Tyr)
c.2408T>A (p.Phe803Tyr)
20g.51789070A>CCA409006884SALL4c.2533T>G (p.Phe845Val)
c.202T>G (p.Phe68Val)
c.1222T>G (p.Phe408Val)
c.2227T>G (p.Phe743Val)
c.2407T>G (p.Phe803Val)
20g.51789070A>GCA409006885SALL4c.2533T>C (p.Phe845Leu)
c.202T>C (p.Phe68Leu)
c.1222T>C (p.Phe408Leu)
c.2227T>C (p.Phe743Leu)
c.2407T>C (p.Phe803Leu)
 dbSNP gnomAD v3 gnomAD v4
20g.51789070A>TCA409006886SALL4c.2533T>A (p.Phe845Ile)
c.202T>A (p.Phe68Ile)
c.1222T>A (p.Phe408Ile)
c.2227T>A (p.Phe743Ile)
c.2407T>A (p.Phe803Ile)
20g.51789071T>ACA511025986SALL4c.2532A>T (p.Thr844=)
c.201A>T (p.Thr67=)
c.1221A>T (p.Thr407=)
c.2226A>T (p.Thr742=)
c.2406A>T (p.Thr802=)
20g.51789071T>CCA511025988SALL4c.2532A>G (p.Thr844=)
c.201A>G (p.Thr67=)
c.1221A>G (p.Thr407=)
c.2226A>G (p.Thr742=)
c.2406A>G (p.Thr802=)
 gnomAD v4
20g.51789071T>GCA511025987SALL4c.2532A>C (p.Thr844=)
c.201A>C (p.Thr67=)
c.1221A>C (p.Thr407=)
c.2226A>C (p.Thr742=)
c.2406A>C (p.Thr802=)
20g.51789072G>ACA409006887SALL4c.2531C>T (p.Thr844Ile)
c.200C>T (p.Thr67Ile)
c.1220C>T (p.Thr407Ile)
c.2225C>T (p.Thr742Ile)
c.2405C>T (p.Thr802Ile)
20g.51789072G>CCA409006889SALL4c.2531C>G (p.Thr844Arg)
c.200C>G (p.Thr67Arg)
c.1220C>G (p.Thr407Arg)
c.2225C>G (p.Thr742Arg)
c.2405C>G (p.Thr802Arg)
20g.51789072G>TCA409006888SALL4c.2531C>A (p.Thr844Lys)
c.200C>A (p.Thr67Lys)
c.1220C>A (p.Thr407Lys)
c.2225C>A (p.Thr742Lys)
c.2405C>A (p.Thr802Lys)
20g.51789073T>ACA409006890SALL4c.2530A>T (p.Thr844Ser)
c.199A>T (p.Thr67Ser)
c.1219A>T (p.Thr407Ser)
c.2224A>T (p.Thr742Ser)
c.2404A>T (p.Thr802Ser)
20g.51789073T>CCA409006891SALL4c.2530A>G (p.Thr844Ala)
c.199A>G (p.Thr67Ala)
c.1219A>G (p.Thr407Ala)
c.2224A>G (p.Thr742Ala)
c.2404A>G (p.Thr802Ala)
20g.51789073T>GCA409006892SALL4c.2530A>C (p.Thr844Pro)
c.199A>C (p.Thr67Pro)
c.1219A>C (p.Thr407Pro)
c.2224A>C (p.Thr742Pro)
c.2404A>C (p.Thr802Pro)
20g.51789074G>ACA511025989SALL4c.2529C>T (p.Gly843=)
c.198C>T (p.Gly66=)
c.1218C>T (p.Gly406=)
c.2223C>T (p.Gly741=)
c.2403C>T (p.Gly801=)
 dbSNP gnomAD v2 gnomAD v4
20g.51789074G>CCA511025990SALL4c.2529C>G (p.Gly843=)
c.198C>G (p.Gly66=)
c.1218C>G (p.Gly406=)
c.2223C>G (p.Gly741=)
c.2403C>G (p.Gly801=)
 gnomAD v4
20g.51789074G=CA2369157391SALL4c.2529C= (p.Gly843=)
c.198C= (p.Gly66=)
c.1218C= (p.Gly406=)
c.2223C= (p.Gly741=)
c.2403C= (p.Gly801=)
20g.51789074G>TCA511025991SALL4c.2529C>A (p.Gly843=)
c.198C>A (p.Gly66=)
c.1218C>A (p.Gly406=)
c.2223C>A (p.Gly741=)
c.2403C>A (p.Gly801=)
20g.51789075C>ACA409006893SALL4c.2528G>T (p.Gly843Val)
c.197G>T (p.Gly66Val)
c.1217G>T (p.Gly406Val)
c.2222G>T (p.Gly741Val)
c.2402G>T (p.Gly801Val)
20g.51789075C>GCA409006894SALL4c.2528G>C (p.Gly843Ala)
c.197G>C (p.Gly66Ala)
c.1217G>C (p.Gly406Ala)
c.2222G>C (p.Gly741Ala)
c.2402G>C (p.Gly801Ala)
20g.51789075C>TCA409006895SALL4c.2528G>A (p.Gly843Asp)
c.197G>A (p.Gly66Asp)
c.1217G>A (p.Gly406Asp)
c.2222G>A (p.Gly741Asp)
c.2402G>A (p.Gly801Asp)
 dbSNP COSMIC

Number of alleles fetched