Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.51784304_51785229delinsCTAAGGCAGGAGAATCACTTGAACCCAGAATCA645610833SALL4c.2743-545_3123delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG
c.412-545_792delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG
c.1432-545_1812delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG
c.2437-545_2817delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG
c.2617-545_2997delinsATTCTGGGTTCAAGTGATTCTCCTGCCTTAG
 COSMIC
20g.51784642G>ACA9912001SALL4c.2785C>T (p.Arg929Cys)
c.454C>T (p.Arg152Cys)
c.1474C>T (p.Arg492Cys)
c.2479C>T (p.Arg827Cys)
c.2659C>T (p.Arg887Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51784642G>CCA409006328SALL4c.2785C>G (p.Arg929Gly)
c.454C>G (p.Arg152Gly)
c.1474C>G (p.Arg492Gly)
c.2479C>G (p.Arg827Gly)
c.2659C>G (p.Arg887Gly)
20g.51784642G=CA2369155373SALL4c.2785C= (p.Arg929=)
c.454C= (p.Arg152=)
c.1474C= (p.Arg492=)
c.2479C= (p.Arg827=)
c.2659C= (p.Arg887=)
20g.51784642G>TCA409006329SALL4c.2785C>A (p.Arg929Ser)
c.454C>A (p.Arg152Ser)
c.1474C>A (p.Arg492Ser)
c.2479C>A (p.Arg827Ser)
c.2659C>A (p.Arg887Ser)
20g.51784643G>ACA511025908SALL4c.2784C>T (p.Arg928=)
c.453C>T (p.Arg151=)
c.1473C>T (p.Arg491=)
c.2478C>T (p.Arg826=)
c.2658C>T (p.Arg886=)
 dbSNP gnomAD v4 COSMIC
20g.51784643G>CCA511025910SALL4c.2784C>G (p.Arg928=)
c.453C>G (p.Arg151=)
c.1473C>G (p.Arg491=)
c.2478C>G (p.Arg826=)
c.2658C>G (p.Arg886=)
20g.51784643G>TCA511025909SALL4c.2784C>A (p.Arg928=)
c.453C>A (p.Arg151=)
c.1473C>A (p.Arg491=)
c.2478C>A (p.Arg826=)
c.2658C>A (p.Arg886=)
20g.51784644C>ACA315366389SALL4c.2783G>T (p.Arg928Leu)
c.452G>T (p.Arg151Leu)
c.1472G>T (p.Arg491Leu)
c.2477G>T (p.Arg826Leu)
c.2657G>T (p.Arg886Leu)
 dbSNP gnomAD v4
20g.51784644C=CA2369155374SALL4c.2783G= (p.Arg928=)
c.452G= (p.Arg151=)
c.1472G= (p.Arg491=)
c.2477G= (p.Arg826=)
c.2657G= (p.Arg886=)
20g.51784644C>GCA409006330SALL4c.2783G>C (p.Arg928Pro)
c.452G>C (p.Arg151Pro)
c.1472G>C (p.Arg491Pro)
c.2477G>C (p.Arg826Pro)
c.2657G>C (p.Arg886Pro)
20g.51784644C>TCA9912002SALL4c.2783G>A (p.Arg928His)
c.452G>A (p.Arg151His)
c.1472G>A (p.Arg491His)
c.2477G>A (p.Arg826His)
c.2657G>A (p.Arg886His)
 ClinVar dbSNP ExAC gnomAD v4
20g.51784645G>ACA9912003SALL4c.2782C>T (p.Arg928Cys)
c.451C>T (p.Arg151Cys)
c.1471C>T (p.Arg491Cys)
c.2476C>T (p.Arg826Cys)
c.2656C>T (p.Arg886Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.51784645G>CCA409006331SALL4c.2782C>G (p.Arg928Gly)
c.451C>G (p.Arg151Gly)
c.1471C>G (p.Arg491Gly)
c.2476C>G (p.Arg826Gly)
c.2656C>G (p.Arg886Gly)
 dbSNP
20g.51784645G=CA2369155375SALL4c.2782C= (p.Arg928=)
c.451C= (p.Arg151=)
c.1471C= (p.Arg491=)
c.2476C= (p.Arg826=)
c.2656C= (p.Arg886=)
20g.51784645G>TCA409006332SALL4c.2782C>A (p.Arg928Ser)
c.451C>A (p.Arg151Ser)
c.1471C>A (p.Arg491Ser)
c.2476C>A (p.Arg826Ser)
c.2656C>A (p.Arg886Ser)
20g.51784646G>ACA315366406SALL4c.2781C>T (p.Ala927=)
c.450C>T (p.Ala150=)
c.1470C>T (p.Ala490=)
c.2475C>T (p.Ala825=)
c.2655C>T (p.Ala885=)
 dbSNP gnomAD v4
20g.51784646G>CCA511025913SALL4c.2781C>G (p.Ala927=)
c.450C>G (p.Ala150=)
c.1470C>G (p.Ala490=)
c.2475C>G (p.Ala825=)
c.2655C>G (p.Ala885=)
20g.51784646G=CA2369155376SALL4c.2781C= (p.Ala927=)
c.450C= (p.Ala150=)
c.1470C= (p.Ala490=)
c.2475C= (p.Ala825=)
c.2655C= (p.Ala885=)
20g.51784646G>TCA511025915SALL4c.2781C>A (p.Ala927=)
c.450C>A (p.Ala150=)
c.1470C>A (p.Ala490=)
c.2475C>A (p.Ala825=)
c.2655C>A (p.Ala885=)
20g.51784647G>ACA409006333SALL4c.2780C>T (p.Ala927Val)
c.449C>T (p.Ala150Val)
c.1469C>T (p.Ala490Val)
c.2474C>T (p.Ala825Val)
c.2654C>T (p.Ala885Val)
 gnomAD v4
20g.51784647G>CCA409006334SALL4c.2780C>G (p.Ala927Gly)
c.449C>G (p.Ala150Gly)
c.1469C>G (p.Ala490Gly)
c.2474C>G (p.Ala825Gly)
c.2654C>G (p.Ala885Gly)
20g.51784647G>TCA409006335SALL4c.2780C>A (p.Ala927Asp)
c.449C>A (p.Ala150Asp)
c.1469C>A (p.Ala490Asp)
c.2474C>A (p.Ala825Asp)
c.2654C>A (p.Ala885Asp)
 gnomAD v4
20g.51784648C>ACA409006338SALL4c.2779G>T (p.Ala927Ser)
c.448G>T (p.Ala150Ser)
c.1468G>T (p.Ala490Ser)
c.2473G>T (p.Ala825Ser)
c.2653G>T (p.Ala885Ser)
 dbSNP gnomAD v3 gnomAD v4
20g.51784648C=CA2369155377SALL4c.2779G= (p.Ala927=)
c.448G= (p.Ala150=)
c.1468G= (p.Ala490=)
c.2473G= (p.Ala825=)
c.2653G= (p.Ala885=)
20g.51784648C>GCA409006336SALL4c.2779G>C (p.Ala927Pro)
c.448G>C (p.Ala150Pro)
c.1468G>C (p.Ala490Pro)
c.2473G>C (p.Ala825Pro)
c.2653G>C (p.Ala885Pro)
 gnomAD v4
20g.51784648C>TCA409006337SALL4c.2779G>A (p.Ala927Thr)
c.448G>A (p.Ala150Thr)
c.1468G>A (p.Ala490Thr)
c.2473G>A (p.Ala825Thr)
c.2653G>A (p.Ala885Thr)
20g.51784649T>ACA511025917SALL4c.2778A>T (p.Ser926=)
c.447A>T (p.Ser149=)
c.1467A>T (p.Ser489=)
c.2472A>T (p.Ser824=)
c.2652A>T (p.Ser884=)
20g.51784649T>CCA511025918SALL4c.2778A>G (p.Ser926=)
c.447A>G (p.Ser149=)
c.1467A>G (p.Ser489=)
c.2472A>G (p.Ser824=)
c.2652A>G (p.Ser884=)
20g.51784649T>GCA511025919SALL4c.2778A>C (p.Ser926=)
c.447A>C (p.Ser149=)
c.1467A>C (p.Ser489=)
c.2472A>C (p.Ser824=)
c.2652A>C (p.Ser884=)
20g.51784650G>ACA409006339SALL4c.2777C>T (p.Ser926Leu)
c.446C>T (p.Ser149Leu)
c.1466C>T (p.Ser489Leu)
c.2471C>T (p.Ser824Leu)
c.2651C>T (p.Ser884Leu)
 gnomAD v4
20g.51784650G>CCA409006340SALL4c.2777C>G (p.Ser926Ter)
c.446C>G (p.Ser149Ter)
c.1466C>G (p.Ser489Ter)
c.2471C>G (p.Ser824Ter)
c.2651C>G (p.Ser884Ter)
20g.51784650G>TCA409006341SALL4c.2777C>A (p.Ser926Ter)
c.446C>A (p.Ser149Ter)
c.1466C>A (p.Ser489Ter)
c.2471C>A (p.Ser824Ter)
c.2651C>A (p.Ser884Ter)
20g.51784651_51784652delCA2653358752SALL4c.2776_2777del (p.Ala927ProfsTer?)
c.445_446del (p.Ala150ProfsTer?)
c.1465_1466del (p.Ala490ProfsTer?)
c.2470_2471del (p.Ala825ProfsTer?)
c.2650_2651del (p.Ala885ProfsTer?)
 gnomAD v4
20g.51784651A>CCA409006342SALL4c.2776T>G (p.Ser926Ala)
c.445T>G (p.Ser149Ala)
c.1465T>G (p.Ser489Ala)
c.2470T>G (p.Ser824Ala)
c.2650T>G (p.Ser884Ala)
20g.51784651A>GCA409006343SALL4c.2776T>C (p.Ser926Pro)
c.445T>C (p.Ser149Pro)
c.1465T>C (p.Ser489Pro)
c.2470T>C (p.Ser824Pro)
c.2650T>C (p.Ser884Pro)
20g.51784651A>TCA409006344SALL4c.2776T>A (p.Ser926Thr)
c.445T>A (p.Ser149Thr)
c.1465T>A (p.Ser489Thr)
c.2470T>A (p.Ser824Thr)
c.2650T>A (p.Ser884Thr)
20g.51784652G>ACA9912004SALL4c.2775C>T (p.Asn925=)
c.444C>T (p.Asn148=)
c.1464C>T (p.Asn488=)
c.2469C>T (p.Asn823=)
c.2649C>T (p.Asn883=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51784652G>CCA409006345SALL4c.2775C>G (p.Asn925Lys)
c.444C>G (p.Asn148Lys)
c.1464C>G (p.Asn488Lys)
c.2469C>G (p.Asn823Lys)
c.2649C>G (p.Asn883Lys)
20g.51784652G=CA2369155378SALL4c.2775C= (p.Asn925=)
c.444C= (p.Asn148=)
c.1464C= (p.Asn488=)
c.2469C= (p.Asn823=)
c.2649C= (p.Asn883=)
20g.51784652G>TCA409006346SALL4c.2775C>A (p.Asn925Lys)
c.444C>A (p.Asn148Lys)
c.1464C>A (p.Asn488Lys)
c.2469C>A (p.Asn823Lys)
c.2649C>A (p.Asn883Lys)
20g.51784653T>ACA409006347SALL4c.2774A>T (p.Asn925Ile)
c.443A>T (p.Asn148Ile)
c.1463A>T (p.Asn488Ile)
c.2468A>T (p.Asn823Ile)
c.2648A>T (p.Asn883Ile)
20g.51784653T>CCA9912005SALL4c.2774A>G (p.Asn925Ser)
c.443A>G (p.Asn148Ser)
c.1463A>G (p.Asn488Ser)
c.2468A>G (p.Asn823Ser)
c.2648A>G (p.Asn883Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51784653T>GCA409006348SALL4c.2774A>C (p.Asn925Thr)
c.443A>C (p.Asn148Thr)
c.1463A>C (p.Asn488Thr)
c.2468A>C (p.Asn823Thr)
c.2648A>C (p.Asn883Thr)
 gnomAD v4
20g.51784653T=CA2369155379SALL4c.2774A= (p.Asn925=)
c.443A= (p.Asn148=)
c.1463A= (p.Asn488=)
c.2468A= (p.Asn823=)
c.2648A= (p.Asn883=)
20g.51784654T>ACA409006349SALL4c.2773A>T (p.Asn925Tyr)
c.442A>T (p.Asn148Tyr)
c.1462A>T (p.Asn488Tyr)
c.2467A>T (p.Asn823Tyr)
c.2647A>T (p.Asn883Tyr)
20g.51784654T>CCA409006351SALL4c.2773A>G (p.Asn925Asp)
c.442A>G (p.Asn148Asp)
c.1462A>G (p.Asn488Asp)
c.2467A>G (p.Asn823Asp)
c.2647A>G (p.Asn883Asp)
20g.51784654T>GCA409006350SALL4c.2773A>C (p.Asn925His)
c.442A>C (p.Asn148His)
c.1462A>C (p.Asn488His)
c.2467A>C (p.Asn823His)
c.2647A>C (p.Asn883His)
20g.51784655A>CCA409006352SALL4c.2772T>G (p.Asn924Lys)
c.441T>G (p.Asn147Lys)
c.1461T>G (p.Asn487Lys)
c.2466T>G (p.Asn822Lys)
c.2646T>G (p.Asn882Lys)
20g.51784655A>GCA511025927SALL4c.2772T>C (p.Asn924=)
c.441T>C (p.Asn147=)
c.1461T>C (p.Asn487=)
c.2466T>C (p.Asn822=)
c.2646T>C (p.Asn882=)
 gnomAD v4
20g.51784655A>TCA409006353SALL4c.2772T>A (p.Asn924Lys)
c.441T>A (p.Asn147Lys)
c.1461T>A (p.Asn487Lys)
c.2466T>A (p.Asn822Lys)
c.2646T>A (p.Asn882Lys)
20g.51784656T>ACA409006354SALL4c.2771A>T (p.Asn924Ile)
c.440A>T (p.Asn147Ile)
c.1460A>T (p.Asn487Ile)
c.2465A>T (p.Asn822Ile)
c.2645A>T (p.Asn882Ile)
20g.51784656T>CCA409006356SALL4c.2771A>G (p.Asn924Ser)
c.440A>G (p.Asn147Ser)
c.1460A>G (p.Asn487Ser)
c.2465A>G (p.Asn822Ser)
c.2645A>G (p.Asn882Ser)
 dbSNP gnomAD v3 gnomAD v4
20g.51784656T>GCA409006355SALL4c.2771A>C (p.Asn924Thr)
c.440A>C (p.Asn147Thr)
c.1460A>C (p.Asn487Thr)
c.2465A>C (p.Asn822Thr)
c.2645A>C (p.Asn882Thr)
20g.51784656T=CA2369155380SALL4c.2771A= (p.Asn924=)
c.440A= (p.Asn147=)
c.1460A= (p.Asn487=)
c.2465A= (p.Asn822=)
c.2645A= (p.Asn882=)
20g.51784657T>ACA409006357SALL4c.2770A>T (p.Asn924Tyr)
c.439A>T (p.Asn147Tyr)
c.1459A>T (p.Asn487Tyr)
c.2464A>T (p.Asn822Tyr)
c.2644A>T (p.Asn882Tyr)
20g.51784657T>CCA409006358SALL4c.2770A>G (p.Asn924Asp)
c.439A>G (p.Asn147Asp)
c.1459A>G (p.Asn487Asp)
c.2464A>G (p.Asn822Asp)
c.2644A>G (p.Asn882Asp)
 gnomAD v4
20g.51784657T>GCA409006359SALL4c.2770A>C (p.Asn924His)
c.439A>C (p.Asn147His)
c.1459A>C (p.Asn487His)
c.2464A>C (p.Asn822His)
c.2644A>C (p.Asn882His)
20g.51784658G>ACA315366422SALL4c.2769C>T (p.Asn923=)
c.438C>T (p.Asn146=)
c.1458C>T (p.Asn486=)
c.2463C>T (p.Asn821=)
c.2643C>T (p.Asn881=)
 dbSNP gnomAD v4
20g.51784658G>CCA409006360SALL4c.2769C>G (p.Asn923Lys)
c.438C>G (p.Asn146Lys)
c.1458C>G (p.Asn486Lys)
c.2463C>G (p.Asn821Lys)
c.2643C>G (p.Asn881Lys)
20g.51784658G=CA2369155381SALL4c.2769C= (p.Asn923=)
c.438C= (p.Asn146=)
c.1458C= (p.Asn486=)
c.2463C= (p.Asn821=)
c.2643C= (p.Asn881=)
20g.51784658G>TCA409006361SALL4c.2769C>A (p.Asn923Lys)
c.438C>A (p.Asn146Lys)
c.1458C>A (p.Asn486Lys)
c.2463C>A (p.Asn821Lys)
c.2643C>A (p.Asn881Lys)
20g.51784659T>ACA409006362SALL4c.2768A>T (p.Asn923Ile)
c.437A>T (p.Asn146Ile)
c.1457A>T (p.Asn486Ile)
c.2462A>T (p.Asn821Ile)
c.2642A>T (p.Asn881Ile)
20g.51784659T>CCA409006363SALL4c.2768A>G (p.Asn923Ser)
c.437A>G (p.Asn146Ser)
c.1457A>G (p.Asn486Ser)
c.2462A>G (p.Asn821Ser)
c.2642A>G (p.Asn881Ser)
20g.51784659T>GCA409006364SALL4c.2768A>C (p.Asn923Thr)
c.437A>C (p.Asn146Thr)
c.1457A>C (p.Asn486Thr)
c.2462A>C (p.Asn821Thr)
c.2642A>C (p.Asn881Thr)
20g.51784660T>ACA409006365SALL4c.2767A>T (p.Asn923Tyr)
c.436A>T (p.Asn146Tyr)
c.1456A>T (p.Asn486Tyr)
c.2461A>T (p.Asn821Tyr)
c.2641A>T (p.Asn881Tyr)
20g.51784660T>CCA409006366SALL4c.2767A>G (p.Asn923Asp)
c.436A>G (p.Asn146Asp)
c.1456A>G (p.Asn486Asp)
c.2461A>G (p.Asn821Asp)
c.2641A>G (p.Asn881Asp)
20g.51784660T>GCA409006367SALL4c.2767A>C (p.Asn923His)
c.436A>C (p.Asn146His)
c.1456A>C (p.Asn486His)
c.2461A>C (p.Asn821His)
c.2641A>C (p.Asn881His)
20g.51784661C>ACA511025933SALL4c.2766G>T (p.Ala922=)
c.435G>T (p.Ala145=)
c.1455G>T (p.Ala485=)
c.2460G>T (p.Ala820=)
c.2640G>T (p.Ala880=)
 dbSNP gnomAD v4
20g.51784661C=CA2369155382SALL4c.2766G= (p.Ala922=)
c.435G= (p.Ala145=)
c.1455G= (p.Ala485=)
c.2460G= (p.Ala820=)
c.2640G= (p.Ala880=)
20g.51784661C>GCA511025934SALL4c.2766G>C (p.Ala922=)
c.435G>C (p.Ala145=)
c.1455G>C (p.Ala485=)
c.2460G>C (p.Ala820=)
c.2640G>C (p.Ala880=)
20g.51784661C>TCA9912006SALL4c.2766G>A (p.Ala922=)
c.435G>A (p.Ala145=)
c.1455G>A (p.Ala485=)
c.2460G>A (p.Ala820=)
c.2640G>A (p.Ala880=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.51784662G>ACA9912008SALL4c.2765C>T (p.Ala922Val)
c.434C>T (p.Ala145Val)
c.1454C>T (p.Ala485Val)
c.2459C>T (p.Ala820Val)
c.2639C>T (p.Ala880Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.51784662G>CCA409006368SALL4c.2765C>G (p.Ala922Gly)
c.434C>G (p.Ala145Gly)
c.1454C>G (p.Ala485Gly)
c.2459C>G (p.Ala820Gly)
c.2639C>G (p.Ala880Gly)
20g.51784662G=CA2369155384SALL4c.2765C= (p.Ala922=)
c.434C= (p.Ala145=)
c.1454C= (p.Ala485=)
c.2459C= (p.Ala820=)
c.2639C= (p.Ala880=)
20g.51784662G>TCA409006369SALL4c.2765C>A (p.Ala922Glu)
c.434C>A (p.Ala145Glu)
c.1454C>A (p.Ala485Glu)
c.2459C>A (p.Ala820Glu)
c.2639C>A (p.Ala880Glu)
20g.51784662_51784663delinsGCCA2369155383SALL4c.2764_2765delinsGC (p.Ala922=)
c.433_434delinsGC (p.Ala145=)
c.1453_1454delinsGC (p.Ala485=)
c.2458_2459delinsGC (p.Ala820=)
c.2638_2639delinsGC (p.Ala880=)
20g.51784663C>ACA409006370SALL4c.2764G>T (p.Ala922Ser)
c.433G>T (p.Ala145Ser)
c.1453G>T (p.Ala485Ser)
c.2458G>T (p.Ala820Ser)
c.2638G>T (p.Ala880Ser)
20g.51784663C=CA2369155385SALL4c.2764G= (p.Ala922=)
c.433G= (p.Ala145=)
c.1453G= (p.Ala485=)
c.2458G= (p.Ala820=)
c.2638G= (p.Ala880=)
20g.51784663C>GCA409006371SALL4c.2764G>C (p.Ala922Pro)
c.433G>C (p.Ala145Pro)
c.1453G>C (p.Ala485Pro)
c.2458G>C (p.Ala820Pro)
c.2638G>C (p.Ala880Pro)
20g.51784663C>TCA409006372SALL4c.2764G>A (p.Ala922Thr)
c.433G>A (p.Ala145Thr)
c.1453G>A (p.Ala485Thr)
c.2458G>A (p.Ala820Thr)
c.2638G>A (p.Ala880Thr)
 dbSNP gnomAD v3 gnomAD v4
20g.51784666delCA9912007SALL4c.2764del (p.Ala922ArgfsTer21)
c.433del (p.Ala145ArgfsTer21)
c.1453del (p.Ala485ArgfsTer21)
c.2458del (p.Ala820ArgfsTer21)
c.2638del (p.Ala880ArgfsTer21)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51784664C>ACA511025938SALL4c.2763G>T (p.Gly921=)
c.432G>T (p.Gly144=)
c.1452G>T (p.Gly484=)
c.2457G>T (p.Gly819=)
c.2637G>T (p.Gly879=)
20g.51784664C>GCA511025939SALL4c.2763G>C (p.Gly921=)
c.432G>C (p.Gly144=)
c.1452G>C (p.Gly484=)
c.2457G>C (p.Gly819=)
c.2637G>C (p.Gly879=)
20g.51784664C>TCA511025940SALL4c.2763G>A (p.Gly921=)
c.432G>A (p.Gly144=)
c.1452G>A (p.Gly484=)
c.2457G>A (p.Gly819=)
c.2637G>A (p.Gly879=)
20g.51784665C>ACA409006373SALL4c.2762G>T (p.Gly921Val)
c.431G>T (p.Gly144Val)
c.1451G>T (p.Gly484Val)
c.2456G>T (p.Gly819Val)
c.2636G>T (p.Gly879Val)
20g.51784665C=CA2369155386SALL4c.2762G= (p.Gly921=)
c.431G= (p.Gly144=)
c.1451G= (p.Gly484=)
c.2456G= (p.Gly819=)
c.2636G= (p.Gly879=)
20g.51784665C>GCA409006374SALL4c.2762G>C (p.Gly921Ala)
c.431G>C (p.Gly144Ala)
c.1451G>C (p.Gly484Ala)
c.2456G>C (p.Gly819Ala)
c.2636G>C (p.Gly879Ala)
20g.51784665C>TCA409006375SALL4c.2762G>A (p.Gly921Glu)
c.431G>A (p.Gly144Glu)
c.1451G>A (p.Gly484Glu)
c.2456G>A (p.Gly819Glu)
c.2636G>A (p.Gly879Glu)
 dbSNP gnomAD v2 gnomAD v4
20g.51784666C>ACA409006376SALL4c.2761G>T (p.Gly921Trp)
c.430G>T (p.Gly144Trp)
c.1450G>T (p.Gly484Trp)
c.2455G>T (p.Gly819Trp)
c.2635G>T (p.Gly879Trp)
20g.51784666C=CA2369155387SALL4c.2761G= (p.Gly921=)
c.430G= (p.Gly144=)
c.1450G= (p.Gly484=)
c.2455G= (p.Gly819=)
c.2635G= (p.Gly879=)
20g.51784666C>GCA409006377SALL4c.2761G>C (p.Gly921Arg)
c.430G>C (p.Gly144Arg)
c.1450G>C (p.Gly484Arg)
c.2455G>C (p.Gly819Arg)
c.2635G>C (p.Gly879Arg)
20g.51784666C>TCA9912009SALL4c.2761G>A (p.Gly921Arg)
c.430G>A (p.Gly144Arg)
c.1450G>A (p.Gly484Arg)
c.2455G>A (p.Gly819Arg)
c.2635G>A (p.Gly879Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51784667G>ACA9912010SALL4c.2760C>T (p.His920=)
c.429C>T (p.His143=)
c.1449C>T (p.His483=)
c.2454C>T (p.His818=)
c.2634C>T (p.His878=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.51784667G>CCA409006379SALL4c.2760C>G (p.His920Gln)
c.429C>G (p.His143Gln)
c.1449C>G (p.His483Gln)
c.2454C>G (p.His818Gln)
c.2634C>G (p.His878Gln)
20g.51784667G=CA2369155388SALL4c.2760C= (p.His920=)
c.429C= (p.His143=)
c.1449C= (p.His483=)
c.2454C= (p.His818=)
c.2634C= (p.His878=)
20g.51784667G>TCA409006378SALL4c.2760C>A (p.His920Gln)
c.429C>A (p.His143Gln)
c.1449C>A (p.His483Gln)
c.2454C>A (p.His818Gln)
c.2634C>A (p.His878Gln)
20g.51784668T>ACA409006380SALL4c.2759A>T (p.His920Leu)
c.428A>T (p.His143Leu)
c.1448A>T (p.His483Leu)
c.2453A>T (p.His818Leu)
c.2633A>T (p.His878Leu)
20g.51784668T>CCA409006381SALL4c.2759A>G (p.His920Arg)
c.428A>G (p.His143Arg)
c.1448A>G (p.His483Arg)
c.2453A>G (p.His818Arg)
c.2633A>G (p.His878Arg)
20g.51784668T>GCA409006382SALL4c.2759A>C (p.His920Pro)
c.428A>C (p.His143Pro)
c.1448A>C (p.His483Pro)
c.2453A>C (p.His818Pro)
c.2633A>C (p.His878Pro)
20g.51784669G>ACA409006383SALL4c.2758C>T (p.His920Tyr)
c.427C>T (p.His143Tyr)
c.1447C>T (p.His483Tyr)
c.2452C>T (p.His818Tyr)
c.2632C>T (p.His878Tyr)
20g.51784669G>CCA409006384SALL4c.2758C>G (p.His920Asp)
c.427C>G (p.His143Asp)
c.1447C>G (p.His483Asp)
c.2452C>G (p.His818Asp)
c.2632C>G (p.His878Asp)
20g.51784669G>TCA409006385SALL4c.2758C>A (p.His920Asn)
c.427C>A (p.His143Asn)
c.1447C>A (p.His483Asn)
c.2452C>A (p.His818Asn)
c.2632C>A (p.His878Asn)
20g.51784670T>ACA511025948SALL4c.2757A>T (p.Thr919=)
c.426A>T (p.Thr142=)
c.1446A>T (p.Thr482=)
c.2451A>T (p.Thr817=)
c.2631A>T (p.Thr877=)
20g.51784670T>CCA511025947SALL4c.2757A>G (p.Thr919=)
c.426A>G (p.Thr142=)
c.1446A>G (p.Thr482=)
c.2451A>G (p.Thr817=)
c.2631A>G (p.Thr877=)
20g.51784670T>GCA511025946SALL4c.2757A>C (p.Thr919=)
c.426A>C (p.Thr142=)
c.1446A>C (p.Thr482=)
c.2451A>C (p.Thr817=)
c.2631A>C (p.Thr877=)
20g.51784671G>ACA409006386SALL4c.2756C>T (p.Thr919Ile)
c.425C>T (p.Thr142Ile)
c.1445C>T (p.Thr482Ile)
c.2450C>T (p.Thr817Ile)
c.2630C>T (p.Thr877Ile)
20g.51784671G>CCA409006387SALL4c.2756C>G (p.Thr919Arg)
c.425C>G (p.Thr142Arg)
c.1445C>G (p.Thr482Arg)
c.2450C>G (p.Thr817Arg)
c.2630C>G (p.Thr877Arg)
20g.51784671G>TCA409006388SALL4c.2756C>A (p.Thr919Lys)
c.425C>A (p.Thr142Lys)
c.1445C>A (p.Thr482Lys)
c.2450C>A (p.Thr817Lys)
c.2630C>A (p.Thr877Lys)
20g.51784672T>ACA409006389SALL4c.2755A>T (p.Thr919Ser)
c.424A>T (p.Thr142Ser)
c.1444A>T (p.Thr482Ser)
c.2449A>T (p.Thr817Ser)
c.2629A>T (p.Thr877Ser)
20g.51784672T>CCA409006390SALL4c.2755A>G (p.Thr919Ala)
c.424A>G (p.Thr142Ala)
c.1444A>G (p.Thr482Ala)
c.2449A>G (p.Thr817Ala)
c.2629A>G (p.Thr877Ala)
20g.51784672T>GCA409006391SALL4c.2755A>C (p.Thr919Pro)
c.424A>C (p.Thr142Pro)
c.1444A>C (p.Thr482Pro)
c.2449A>C (p.Thr817Pro)
c.2629A>C (p.Thr877Pro)
20g.51784673C>ACA409006394SALL4c.2754G>T (p.Met918Ile)
c.423G>T (p.Met141Ile)
c.1443G>T (p.Met481Ile)
c.2448G>T (p.Met816Ile)
c.2628G>T (p.Met876Ile)
20g.51784673C>GCA409006392SALL4c.2754G>C (p.Met918Ile)
c.423G>C (p.Met141Ile)
c.1443G>C (p.Met481Ile)
c.2448G>C (p.Met816Ile)
c.2628G>C (p.Met876Ile)
20g.51784673C>TCA409006393SALL4c.2754G>A (p.Met918Ile)
c.423G>A (p.Met141Ile)
c.1443G>A (p.Met481Ile)
c.2448G>A (p.Met816Ile)
c.2628G>A (p.Met876Ile)
 COSMIC
20g.51784674A=CA2369155389SALL4c.2753T= (p.Met918=)
c.422T= (p.Met141=)
c.1442T= (p.Met481=)
c.2447T= (p.Met816=)
c.2627T= (p.Met876=)
20g.51784674A>CCA409006395SALL4c.2753T>G (p.Met918Arg)
c.422T>G (p.Met141Arg)
c.1442T>G (p.Met481Arg)
c.2447T>G (p.Met816Arg)
c.2627T>G (p.Met876Arg)
20g.51784674A>GCA9912011SALL4c.2753T>C (p.Met918Thr)
c.422T>C (p.Met141Thr)
c.1442T>C (p.Met481Thr)
c.2447T>C (p.Met816Thr)
c.2627T>C (p.Met876Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51784674A>TCA409006396SALL4c.2753T>A (p.Met918Lys)
c.422T>A (p.Met141Lys)
c.1442T>A (p.Met481Lys)
c.2447T>A (p.Met816Lys)
c.2627T>A (p.Met876Lys)
20g.51784675T>ACA9912012SALL4c.2752A>T (p.Met918Leu)
c.421A>T (p.Met141Leu)
c.1441A>T (p.Met481Leu)
c.2446A>T (p.Met816Leu)
c.2626A>T (p.Met876Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51784675T>CCA315366495SALL4c.2752A>G (p.Met918Val)
c.421A>G (p.Met141Val)
c.1441A>G (p.Met481Val)
c.2446A>G (p.Met816Val)
c.2626A>G (p.Met876Val)
 dbSNP
20g.51784675T>GCA409006397SALL4c.2752A>C (p.Met918Leu)
c.421A>C (p.Met141Leu)
c.1441A>C (p.Met481Leu)
c.2446A>C (p.Met816Leu)
c.2626A>C (p.Met876Leu)
20g.51784675T=CA2369155390SALL4c.2752A= (p.Met918=)
c.421A= (p.Met141=)
c.1441A= (p.Met481=)
c.2446A= (p.Met816=)
c.2626A= (p.Met876=)
20g.51784676G>ACA9912013SALL4c.2751C>T (p.Tyr917=)
c.420C>T (p.Tyr140=)
c.1440C>T (p.Tyr480=)
c.2445C>T (p.Tyr815=)
c.2625C>T (p.Tyr875=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51784676G>CCA409006398SALL4c.2751C>G (p.Tyr917Ter)
c.420C>G (p.Tyr140Ter)
c.1440C>G (p.Tyr480Ter)
c.2445C>G (p.Tyr815Ter)
c.2625C>G (p.Tyr875Ter)
20g.51784676G=CA2369155391SALL4c.2751C= (p.Tyr917=)
c.420C= (p.Tyr140=)
c.1440C= (p.Tyr480=)
c.2445C= (p.Tyr815=)
c.2625C= (p.Tyr875=)
20g.51784676G>TCA409006399SALL4c.2751C>A (p.Tyr917Ter)
c.420C>A (p.Tyr140Ter)
c.1440C>A (p.Tyr480Ter)
c.2445C>A (p.Tyr815Ter)
c.2625C>A (p.Tyr875Ter)
20g.51784677T>ACA409006400SALL4c.2750A>T (p.Tyr917Phe)
c.419A>T (p.Tyr140Phe)
c.1439A>T (p.Tyr480Phe)
c.2444A>T (p.Tyr815Phe)
c.2624A>T (p.Tyr875Phe)
20g.51784677T>CCA409006401SALL4c.2750A>G (p.Tyr917Cys)
c.419A>G (p.Tyr140Cys)
c.1439A>G (p.Tyr480Cys)
c.2444A>G (p.Tyr815Cys)
c.2624A>G (p.Tyr875Cys)
 gnomAD v4
20g.51784677T>GCA409006402SALL4c.2750A>C (p.Tyr917Ser)
c.419A>C (p.Tyr140Ser)
c.1439A>C (p.Tyr480Ser)
c.2444A>C (p.Tyr815Ser)
c.2624A>C (p.Tyr875Ser)
20g.51784678A>CCA409006404SALL4c.2749T>G (p.Tyr917Asp)
c.418T>G (p.Tyr140Asp)
c.1438T>G (p.Tyr480Asp)
c.2443T>G (p.Tyr815Asp)
c.2623T>G (p.Tyr875Asp)
20g.51784678A>GCA409006405SALL4c.2749T>C (p.Tyr917His)
c.418T>C (p.Tyr140His)
c.1438T>C (p.Tyr480His)
c.2443T>C (p.Tyr815His)
c.2623T>C (p.Tyr875His)
20g.51784678A>TCA409006403SALL4c.2749T>A (p.Tyr917Asn)
c.418T>A (p.Tyr140Asn)
c.1438T>A (p.Tyr480Asn)
c.2443T>A (p.Tyr815Asn)
c.2623T>A (p.Tyr875Asn)
20g.51784679G>ACA511025957SALL4c.2748C>T (p.His916=)
c.417C>T (p.His139=)
c.1437C>T (p.His479=)
c.2442C>T (p.His814=)
c.2622C>T (p.His874=)
20g.51784679G>CCA409006407SALL4c.2748C>G (p.His916Gln)
c.417C>G (p.His139Gln)
c.1437C>G (p.His479Gln)
c.2442C>G (p.His814Gln)
c.2622C>G (p.His874Gln)
20g.51784679G>TCA409006406SALL4c.2748C>A (p.His916Gln)
c.417C>A (p.His139Gln)
c.1437C>A (p.His479Gln)
c.2442C>A (p.His814Gln)
c.2622C>A (p.His874Gln)
20g.51784680T>ACA409006408SALL4c.2747A>T (p.His916Leu)
c.416A>T (p.His139Leu)
c.1436A>T (p.His479Leu)
c.2441A>T (p.His814Leu)
c.2621A>T (p.His874Leu)
20g.51784680T>CCA409006409SALL4c.2747A>G (p.His916Arg)
c.416A>G (p.His139Arg)
c.1436A>G (p.His479Arg)
c.2441A>G (p.His814Arg)
c.2621A>G (p.His874Arg)
20g.51784680T>GCA409006410SALL4c.2747A>C (p.His916Pro)
c.416A>C (p.His139Pro)
c.1436A>C (p.His479Pro)
c.2441A>C (p.His814Pro)
c.2621A>C (p.His874Pro)
20g.51784681G>ACA315366512SALL4c.2746C>T (p.His916Tyr)
c.415C>T (p.His139Tyr)
c.1435C>T (p.His479Tyr)
c.2440C>T (p.His814Tyr)
c.2620C>T (p.His874Tyr)
 dbSNP COSMIC
20g.51784681G>CCA409006411SALL4c.2746C>G (p.His916Asp)
c.415C>G (p.His139Asp)
c.1435C>G (p.His479Asp)
c.2440C>G (p.His814Asp)
c.2620C>G (p.His874Asp)
20g.51784681G=CA2369155392SALL4c.2746C= (p.His916=)
c.415C= (p.His139=)
c.1435C= (p.His479=)
c.2440C= (p.His814=)
c.2620C= (p.His874=)
20g.51784681G>TCA409006412SALL4c.2746C>A (p.His916Asn)
c.415C>A (p.His139Asn)
c.1435C>A (p.His479Asn)
c.2440C>A (p.His814Asn)
c.2620C>A (p.His874Asn)
20g.51784682A>CCA511025960SALL4c.2745T>G (p.Val915=)
c.414T>G (p.Val138=)
c.1434T>G (p.Val478=)
c.2439T>G (p.Val813=)
c.2619T>G (p.Val873=)
20g.51784682A>GCA511025962SALL4c.2745T>C (p.Val915=)
c.414T>C (p.Val138=)
c.1434T>C (p.Val478=)
c.2439T>C (p.Val813=)
c.2619T>C (p.Val873=)
 gnomAD v4
20g.51784682A>TCA511025963SALL4c.2745T>A (p.Val915=)
c.414T>A (p.Val138=)
c.1434T>A (p.Val478=)
c.2439T>A (p.Val813=)
c.2619T>A (p.Val873=)
20g.51784683A>CCA409006413SALL4c.2744T>G (p.Val915Gly)
c.413T>G (p.Val138Gly)
c.1433T>G (p.Val478Gly)
c.2438T>G (p.Val813Gly)
c.2618T>G (p.Val873Gly)
20g.51784683A>GCA409006414SALL4c.2744T>C (p.Val915Ala)
c.413T>C (p.Val138Ala)
c.1433T>C (p.Val478Ala)
c.2438T>C (p.Val813Ala)
c.2618T>C (p.Val873Ala)
20g.51784683A>TCA409006415SALL4c.2744T>A (p.Val915Asp)
c.413T>A (p.Val138Asp)
c.1433T>A (p.Val478Asp)
c.2438T>A (p.Val813Asp)
c.2618T>A (p.Val873Asp)
20g.51784684C>ACA409006416SALL4c.2743G>T (p.Val915Phe)
c.412G>T (p.Val138Phe)
c.1432G>T (p.Val478Phe)
c.2437G>T (p.Val813Phe)
c.2617G>T (p.Val873Phe)
20g.51784684C=CA2369155393SALL4c.2743G= (p.Val915=)
c.412G= (p.Val138=)
c.1432G= (p.Val478=)
c.2437G= (p.Val813=)
c.2617G= (p.Val873=)
20g.51784684C>GCA409006417SALL4c.2743G>C (p.Val915Leu)
c.412G>C (p.Val138Leu)
c.1432G>C (p.Val478Leu)
c.2437G>C (p.Val813Leu)
c.2617G>C (p.Val873Leu)
20g.51784684C>TCA409006418SALL4c.2743G>A (p.Val915Ile)
c.412G>A (p.Val138Ile)
c.1432G>A (p.Val478Ile)
c.2437G>A (p.Val813Ile)
c.2617G>A (p.Val873Ile)
 dbSNP gnomAD v4
20g.51784685C>ACA409006421SALL4c.2743-1G>T (n.2743-1G>T)
c.412-1G>T (n.412-1G>T)
c.1432-1G>T (n.1432-1G>T)
c.2437-1G>T (n.2437-1G>T)
c.2617-1G>T (n.2617-1G>T)
20g.51784685C>GCA409006419SALL4c.2743-1G>C (n.2743-1G>C)
c.412-1G>C (n.412-1G>C)
c.1432-1G>C (n.1432-1G>C)
c.2437-1G>C (n.2437-1G>C)
c.2617-1G>C (n.2617-1G>C)
20g.51784685C>TCA409006420SALL4c.2743-1G>A (n.2743-1G>A)
c.412-1G>A (n.412-1G>A)
c.1432-1G>A (n.1432-1G>A)
c.2437-1G>A (n.2437-1G>A)
c.2617-1G>A (n.2617-1G>A)
20g.51784686T>ACA409006422SALL4c.2743-2A>T (n.2743-2A>T)
c.412-2A>T (n.412-2A>T)
c.1432-2A>T (n.1432-2A>T)
c.2437-2A>T (n.2437-2A>T)
c.2617-2A>T (n.2617-2A>T)
20g.51784686T>CCA409006423SALL4c.2743-2A>G (n.2743-2A>G)
c.412-2A>G (n.412-2A>G)
c.1432-2A>G (n.1432-2A>G)
c.2437-2A>G (n.2437-2A>G)
c.2617-2A>G (n.2617-2A>G)
20g.51784686T>GCA409006424SALL4c.2743-2A>C (n.2743-2A>C)
c.412-2A>C (n.412-2A>C)
c.1432-2A>C (n.1432-2A>C)
c.2437-2A>C (n.2437-2A>C)
c.2617-2A>C (n.2617-2A>C)
20g.51784687A=CA2369155394SALL4c.2743-3T= (n.2743-3T=)
c.412-3T= (n.412-3T=)
c.1432-3T= (n.1432-3T=)
c.2437-3T= (n.2437-3T=)
c.2617-3T= (n.2617-3T=)
20g.51784687A>GCA9912014SALL4c.2743-3T>C (n.2743-3T>C)
c.412-3T>C (n.412-3T>C)
c.1432-3T>C (n.1432-3T>C)
c.2437-3T>C (n.2437-3T>C)
c.2617-3T>C (n.2617-3T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51784688T>CCA9912015SALL4c.2743-4A>G (n.2743-4A>G)
c.412-4A>G (n.412-4A>G)
c.1432-4A>G (n.1432-4A>G)
c.2437-4A>G (n.2437-4A>G)
c.2617-4A>G (n.2617-4A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51784688T>GCA745390433SALL4c.2743-4A>C (n.2743-4A>C)
c.412-4A>C (n.412-4A>C)
c.1432-4A>C (n.1432-4A>C)
c.2437-4A>C (n.2437-4A>C)
c.2617-4A>C (n.2617-4A>C)
 dbSNP gnomAD v3 gnomAD v4
20g.51784688T=CA2369155396SALL4c.2743-4A= (n.2743-4A=)
c.412-4A= (n.412-4A=)
c.1432-4A= (n.1432-4A=)
c.2437-4A= (n.2437-4A=)
c.2617-4A= (n.2617-4A=)
20g.51784688_51784689delinsTGCA2369155395SALL4c.2743-5_2743-4delinsCA (n.2743-5_2743-4delinsCA)
c.412-5_412-4delinsCA (n.412-5_412-4delinsCA)
c.1432-5_1432-4delinsCA (n.1432-5_1432-4delinsCA)
c.2437-5_2437-4delinsCA (n.2437-5_2437-4delinsCA)
c.2617-5_2617-4delinsCA (n.2617-5_2617-4delinsCA)
20g.51784689G>ACA9912016SALL4c.2743-5C>T (n.2743-5C>T)
c.412-5C>T (n.412-5C>T)
c.1432-5C>T (n.1432-5C>T)
c.2437-5C>T (n.2437-5C>T)
c.2617-5C>T (n.2617-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51784689G>CCA636172348SALL4c.2743-5C>G (n.2743-5C>G)
c.412-5C>G (n.412-5C>G)
c.1432-5C>G (n.1432-5C>G)
c.2437-5C>G (n.2437-5C>G)
c.2617-5C>G (n.2617-5C>G)
 dbSNP gnomAD v2 gnomAD v4
20g.51784689G=CA2369155397SALL4c.2743-5C= (n.2743-5C=)
c.412-5C= (n.412-5C=)
c.1432-5C= (n.1432-5C=)
c.2437-5C= (n.2437-5C=)
c.2617-5C= (n.2617-5C=)
20g.51784691delCA636172347SALL4c.2743-5del (n.2743-5del)
c.412-5del (n.412-5del)
c.1432-5del (n.1432-5del)
c.2437-5del (n.2437-5del)
c.2617-5del (n.2617-5del)
 dbSNP gnomAD v2 gnomAD v4
20g.51784690G>ACA2653358753SALL4c.2743-6C>T (n.2743-6C>T)
c.412-6C>T (n.412-6C>T)
c.1432-6C>T (n.1432-6C>T)
c.2437-6C>T (n.2437-6C>T)
c.2617-6C>T (n.2617-6C>T)
 gnomAD v4
20g.51784691G>ACA1018374779SALL4c.2743-7C>T (n.2743-7C>T)
c.412-7C>T (n.412-7C>T)
c.1432-7C>T (n.1432-7C>T)
c.2437-7C>T (n.2437-7C>T)
c.2617-7C>T (n.2617-7C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.51784691G>CCA2653358754SALL4c.2743-7C>G (n.2743-7C>G)
c.412-7C>G (n.412-7C>G)
c.1432-7C>G (n.1432-7C>G)
c.2437-7C>G (n.2437-7C>G)
c.2617-7C>G (n.2617-7C>G)
 gnomAD v4
20g.51784691G=CA2369155398SALL4c.2743-7C= (n.2743-7C=)
c.412-7C= (n.412-7C=)
c.1432-7C= (n.1432-7C=)
c.2437-7C= (n.2437-7C=)
c.2617-7C= (n.2617-7C=)
20g.51784692A>TCA2653358755SALL4c.2743-8T>A (n.2743-8T>A)
c.412-8T>A (n.412-8T>A)
c.1432-8T>A (n.1432-8T>A)
c.2437-8T>A (n.2437-8T>A)
c.2617-8T>A (n.2617-8T>A)
 gnomAD v4
20g.51784695A>GCA2653358756SALL4c.2743-11T>C (n.2743-11T>C)
c.412-11T>C (n.412-11T>C)
c.1432-11T>C (n.1432-11T>C)
c.2437-11T>C (n.2437-11T>C)
c.2617-11T>C (n.2617-11T>C)
 gnomAD v4
20g.51784696G>ACA315366545SALL4c.2743-12C>T (n.2743-12C>T)
c.412-12C>T (n.412-12C>T)
c.1432-12C>T (n.1432-12C>T)
c.2437-12C>T (n.2437-12C>T)
c.2617-12C>T (n.2617-12C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.51784696G=CA2369155399SALL4c.2743-12C= (n.2743-12C=)
c.412-12C= (n.412-12C=)
c.1432-12C= (n.1432-12C=)
c.2437-12C= (n.2437-12C=)
c.2617-12C= (n.2617-12C=)
20g.51784697G>ACA745390449SALL4c.2743-13C>T (n.2743-13C>T)
c.412-13C>T (n.412-13C>T)
c.1432-13C>T (n.1432-13C>T)
c.2437-13C>T (n.2437-13C>T)
c.2617-13C>T (n.2617-13C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.51784697G>CCA2577428511SALL4c.2743-13C>G (n.2743-13C>G)
c.412-13C>G (n.412-13C>G)
c.1432-13C>G (n.1432-13C>G)
c.2437-13C>G (n.2437-13C>G)
c.2617-13C>G (n.2617-13C>G)
 gnomAD v4
20g.51784697G=CA2369155400SALL4c.2743-13C= (n.2743-13C=)
c.412-13C= (n.412-13C=)
c.1432-13C= (n.1432-13C=)
c.2437-13C= (n.2437-13C=)
c.2617-13C= (n.2617-13C=)
20g.51784697G>TCA2653358757SALL4c.2743-13C>A (n.2743-13C>A)
c.412-13C>A (n.412-13C>A)
c.1432-13C>A (n.1432-13C>A)
c.2437-13C>A (n.2437-13C>A)
c.2617-13C>A (n.2617-13C>A)
 gnomAD v4
20g.51784701G>TCA2577428512SALL4c.2743-17C>A (n.2743-17C>A)
c.412-17C>A (n.412-17C>A)
c.1432-17C>A (n.1432-17C>A)
c.2437-17C>A (n.2437-17C>A)
c.2617-17C>A (n.2617-17C>A)
20g.51784702A=CA2369155401SALL4c.2743-18T= (n.2743-18T=)
c.412-18T= (n.412-18T=)
c.1432-18T= (n.1432-18T=)
c.2437-18T= (n.2437-18T=)
c.2617-18T= (n.2617-18T=)
20g.51784702A>GCA745390452SALL4c.2743-18T>C (n.2743-18T>C)
c.412-18T>C (n.412-18T>C)
c.1432-18T>C (n.1432-18T>C)
c.2437-18T>C (n.2437-18T>C)
c.2617-18T>C (n.2617-18T>C)
 dbSNP
20g.51784703A>CCA2653358758SALL4c.2743-19T>G (n.2743-19T>G)
c.412-19T>G (n.412-19T>G)
c.1432-19T>G (n.1432-19T>G)
c.2437-19T>G (n.2437-19T>G)
c.2617-19T>G (n.2617-19T>G)
 gnomAD v4
20g.51784703A>GCA2653358759SALL4c.2743-19T>C (n.2743-19T>C)
c.412-19T>C (n.412-19T>C)
c.1432-19T>C (n.1432-19T>C)
c.2437-19T>C (n.2437-19T>C)
c.2617-19T>C (n.2617-19T>C)
 gnomAD v4
20g.51784704A=CA2369155402SALL4c.2743-20T= (n.2743-20T=)
c.412-20T= (n.412-20T=)
c.1432-20T= (n.1432-20T=)
c.2437-20T= (n.2437-20T=)
c.2617-20T= (n.2617-20T=)
20g.51784704A>CCA2369155403SALL4c.2743-20T>G (n.2743-20T>G)
c.412-20T>G (n.412-20T>G)
c.1432-20T>G (n.1432-20T>G)
c.2437-20T>G (n.2437-20T>G)
c.2617-20T>G (n.2617-20T>G)
 dbSNP gnomAD v4
20g.51784705G>ACA2369155404SALL4c.2743-21C>T (n.2743-21C>T)
c.412-21C>T (n.412-21C>T)
c.1432-21C>T (n.1432-21C>T)
c.2437-21C>T (n.2437-21C>T)
c.2617-21C>T (n.2617-21C>T)
 dbSNP
20g.51784705G=CA2369155405SALL4c.2743-21C= (n.2743-21C=)
c.412-21C= (n.412-21C=)
c.1432-21C= (n.1432-21C=)
c.2437-21C= (n.2437-21C=)
c.2617-21C= (n.2617-21C=)
20g.51784706G>ACA9912017SALL4c.2743-22C>T (n.2743-22C>T)
c.412-22C>T (n.412-22C>T)
c.1432-22C>T (n.1432-22C>T)
c.2437-22C>T (n.2437-22C>T)
c.2617-22C>T (n.2617-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.51784706G=CA2369155406SALL4c.2743-22C= (n.2743-22C=)
c.412-22C= (n.412-22C=)
c.1432-22C= (n.1432-22C=)
c.2437-22C= (n.2437-22C=)
c.2617-22C= (n.2617-22C=)
20g.51784707T>CCA2653358761SALL4c.2743-23A>G (n.2743-23A>G)
c.412-23A>G (n.412-23A>G)
c.1432-23A>G (n.1432-23A>G)
c.2437-23A>G (n.2437-23A>G)
c.2617-23A>G (n.2617-23A>G)
 gnomAD v4
20g.51784707T>GCA2369155408SALL4c.2743-23A>C (n.2743-23A>C)
c.412-23A>C (n.412-23A>C)
c.1432-23A>C (n.1432-23A>C)
c.2437-23A>C (n.2437-23A>C)
c.2617-23A>C (n.2617-23A>C)
 dbSNP
20g.51784707T=CA2369155407SALL4c.2743-23A= (n.2743-23A=)
c.412-23A= (n.412-23A=)
c.1432-23A= (n.1432-23A=)
c.2437-23A= (n.2437-23A=)
c.2617-23A= (n.2617-23A=)
20g.51784711delCA2653358760SALL4c.2743-23del (n.2743-23del)
c.412-23del (n.412-23del)
c.1432-23del (n.1432-23del)
c.2437-23del (n.2437-23del)
c.2617-23del (n.2617-23del)
 gnomAD v4
20g.51784710_51784711delCA2816661510SALL4c.2743-24_2743-23del (n.2743-24_2743-23del)
c.412-24_412-23del (n.412-24_412-23del)
c.1432-24_1432-23del (n.1432-24_1432-23del)
c.2437-24_2437-23del (n.2437-24_2437-23del)
c.2617-24_2617-23del (n.2617-24_2617-23del)
20g.51784710T>ACA2816661511SALL4c.2743-26A>T (n.2743-26A>T)
c.412-26A>T (n.412-26A>T)
c.1432-26A>T (n.1432-26A>T)
c.2437-26A>T (n.2437-26A>T)
c.2617-26A>T (n.2617-26A>T)
20g.51784710T>CCA2653358762SALL4c.2743-26A>G (n.2743-26A>G)
c.412-26A>G (n.412-26A>G)
c.1432-26A>G (n.1432-26A>G)
c.2437-26A>G (n.2437-26A>G)
c.2617-26A>G (n.2617-26A>G)
 gnomAD v4
20g.51784711T>CCA2816661512SALL4c.2743-27A>G (n.2743-27A>G)
c.412-27A>G (n.412-27A>G)
c.1432-27A>G (n.1432-27A>G)
c.2437-27A>G (n.2437-27A>G)
c.2617-27A>G (n.2617-27A>G)
20g.51784713C>GCA2816661514SALL4c.2743-29G>C (n.2743-29G>C)
c.412-29G>C (n.412-29G>C)
c.1432-29G>C (n.1432-29G>C)
c.2437-29G>C (n.2437-29G>C)
c.2617-29G>C (n.2617-29G>C)
20g.51784713_51784714insTCCA2816661513SALL4c.2743-29_2743-28insAG (n.2743-29_2743-28insAG)
c.412-29_412-28insAG (n.412-29_412-28insAG)
c.1432-29_1432-28insAG (n.1432-29_1432-28insAG)
c.2437-29_2437-28insAG (n.2437-29_2437-28insAG)
c.2617-29_2617-28insAG (n.2617-29_2617-28insAG)
20g.51784715A=CA2369155409SALL4c.2743-31T= (n.2743-31T=)
c.412-31T= (n.412-31T=)
c.1432-31T= (n.1432-31T=)
c.2437-31T= (n.2437-31T=)
c.2617-31T= (n.2617-31T=)
20g.51784715A>TCA636172349SALL4c.2743-31T>A (n.2743-31T>A)
c.412-31T>A (n.412-31T>A)
c.1432-31T>A (n.1432-31T>A)
c.2437-31T>A (n.2437-31T>A)
c.2617-31T>A (n.2617-31T>A)
 dbSNP gnomAD v2 gnomAD v4
20g.51784723_51784724delCA2741673964SALL4c.2743-37_2743-36del (n.2743-37_2743-36del)
c.412-37_412-36del (n.412-37_412-36del)
c.1432-37_1432-36del (n.1432-37_1432-36del)
c.2437-37_2437-36del (n.2437-37_2437-36del)
c.2617-37_2617-36del (n.2617-37_2617-36del)
20g.51784723G>CCA745390460SALL4c.2743-39C>G (n.2743-39C>G)
c.412-39C>G (n.412-39C>G)
c.1432-39C>G (n.1432-39C>G)
c.2437-39C>G (n.2437-39C>G)
c.2617-39C>G (n.2617-39C>G)
 dbSNP gnomAD v3 gnomAD v4
20g.51784723G=CA2369155410SALL4c.2743-39C= (n.2743-39C=)
c.412-39C= (n.412-39C=)
c.1432-39C= (n.1432-39C=)
c.2437-39C= (n.2437-39C=)
c.2617-39C= (n.2617-39C=)
20g.51784724A>GCA2653358763SALL4c.2743-40T>C (n.2743-40T>C)
c.412-40T>C (n.412-40T>C)
c.1432-40T>C (n.1432-40T>C)
c.2437-40T>C (n.2437-40T>C)
c.2617-40T>C (n.2617-40T>C)
 gnomAD v4
20g.51784725T>ACA2653358764SALL4c.2743-41A>T (n.2743-41A>T)
c.412-41A>T (n.412-41A>T)
c.1432-41A>T (n.1432-41A>T)
c.2437-41A>T (n.2437-41A>T)
c.2617-41A>T (n.2617-41A>T)
 gnomAD v4
20g.51784725T>CCA2653358765SALL4c.2743-41A>G (n.2743-41A>G)
c.412-41A>G (n.412-41A>G)
c.1432-41A>G (n.1432-41A>G)
c.2437-41A>G (n.2437-41A>G)
c.2617-41A>G (n.2617-41A>G)
 gnomAD v4
20g.51784726T>ACA2736884464SALL4c.2743-42A>T (n.2743-42A>T)
c.412-42A>T (n.412-42A>T)
c.1432-42A>T (n.1432-42A>T)
c.2437-42A>T (n.2437-42A>T)
c.2617-42A>T (n.2617-42A>T)
 dbSNP
20g.51784726T>CCA1018374788SALL4c.2743-42A>G (n.2743-42A>G)
c.412-42A>G (n.412-42A>G)
c.1432-42A>G (n.1432-42A>G)
c.2437-42A>G (n.2437-42A>G)
c.2617-42A>G (n.2617-42A>G)
 dbSNP gnomAD v3 gnomAD v4
20g.51784726T=CA2369155411SALL4c.2743-42A= (n.2743-42A=)
c.412-42A= (n.412-42A=)
c.1432-42A= (n.1432-42A=)
c.2437-42A= (n.2437-42A=)
c.2617-42A= (n.2617-42A=)
20g.51784726_51784728delCA2816661515SALL4c.2743-44_2743-42del (n.2743-44_2743-42del)
c.412-44_412-42del (n.412-44_412-42del)
c.1432-44_1432-42del (n.1432-44_1432-42del)
c.2437-44_2437-42del (n.2437-44_2437-42del)
c.2617-44_2617-42del (n.2617-44_2617-42del)
20g.51784727_51784729delCA2816661516SALL4c.2743-45_2743-43del (n.2743-45_2743-43del)
c.412-45_412-43del (n.412-45_412-43del)
c.1432-45_1432-43del (n.1432-45_1432-43del)
c.2437-45_2437-43del (n.2437-45_2437-43del)
c.2617-45_2617-43del (n.2617-45_2617-43del)
20g.51784727_51784728insACA2816661517SALL4c.2743-44_2743-43insT (n.2743-44_2743-43insT)
c.412-44_412-43insT (n.412-44_412-43insT)
c.1432-44_1432-43insT (n.1432-44_1432-43insT)
c.2437-44_2437-43insT (n.2437-44_2437-43insT)
c.2617-44_2617-43insT (n.2617-44_2617-43insT)
20g.51784728G>ACA9912018SALL4c.2743-44C>T (n.2743-44C>T)
c.412-44C>T (n.412-44C>T)
c.1432-44C>T (n.1432-44C>T)
c.2437-44C>T (n.2437-44C>T)
c.2617-44C>T (n.2617-44C>T)
 dbSNP ExAC gnomAD v2
20g.51784728G>CCA2816661518SALL4c.2743-44C>G (n.2743-44C>G)
c.412-44C>G (n.412-44C>G)
c.1432-44C>G (n.1432-44C>G)
c.2437-44C>G (n.2437-44C>G)
c.2617-44C>G (n.2617-44C>G)
20g.51784728G=CA2369155412SALL4c.2743-44C= (n.2743-44C=)
c.412-44C= (n.412-44C=)
c.1432-44C= (n.1432-44C=)
c.2437-44C= (n.2437-44C=)
c.2617-44C= (n.2617-44C=)
20g.51784730A>CCA2577428513SALL4c.2743-46T>G (n.2743-46T>G)
c.412-46T>G (n.412-46T>G)
c.1432-46T>G (n.1432-46T>G)
c.2437-46T>G (n.2437-46T>G)
c.2617-46T>G (n.2617-46T>G)
20g.51784730_51784733delCA2816661519SALL4c.2743-49_2743-46del (n.2743-49_2743-46del)
c.412-49_412-46del (n.412-49_412-46del)
c.1432-49_1432-46del (n.1432-49_1432-46del)
c.2437-49_2437-46del (n.2437-49_2437-46del)
c.2617-49_2617-46del (n.2617-49_2617-46del)
20g.51784731_51784734delCA2816661520SALL4c.2743-50_2743-47del (n.2743-50_2743-47del)
c.412-50_412-47del (n.412-50_412-47del)
c.1432-50_1432-47del (n.1432-50_1432-47del)
c.2437-50_2437-47del (n.2437-50_2437-47del)
c.2617-50_2617-47del (n.2617-50_2617-47del)
20g.51784732C>ACA2816661521SALL4c.2743-48G>T (n.2743-48G>T)
c.412-48G>T (n.412-48G>T)
c.1432-48G>T (n.1432-48G>T)
c.2437-48G>T (n.2437-48G>T)
c.2617-48G>T (n.2617-48G>T)
20g.51784734C=CA2369155413SALL4c.2743-50G= (n.2743-50G=)
c.412-50G= (n.412-50G=)
c.1432-50G= (n.1432-50G=)
c.2437-50G= (n.2437-50G=)
c.2617-50G= (n.2617-50G=)
20g.51784734C>TCA9912019SALL4c.2743-50G>A (n.2743-50G>A)
c.412-50G>A (n.412-50G>A)
c.1432-50G>A (n.1432-50G>A)
c.2437-50G>A (n.2437-50G>A)
c.2617-50G>A (n.2617-50G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.51784735A>CCA2653358766SALL4c.2743-51T>G (n.2743-51T>G)
c.412-51T>G (n.412-51T>G)
c.1432-51T>G (n.1432-51T>G)
c.2437-51T>G (n.2437-51T>G)
c.2617-51T>G (n.2617-51T>G)
 gnomAD v4
20g.51784737T>ACA2816661522SALL4c.2743-53A>T (n.2743-53A>T)
c.412-53A>T (n.412-53A>T)
c.1432-53A>T (n.1432-53A>T)
c.2437-53A>T (n.2437-53A>T)
c.2617-53A>T (n.2617-53A>T)
20g.51784737T>CCA2653358767SALL4c.2743-53A>G (n.2743-53A>G)
c.412-53A>G (n.412-53A>G)
c.1432-53A>G (n.1432-53A>G)
c.2437-53A>G (n.2437-53A>G)
c.2617-53A>G (n.2617-53A>G)
 gnomAD v4
20g.51784738G>ACA745390464SALL4c.2743-54C>T (n.2743-54C>T)
c.412-54C>T (n.412-54C>T)
c.1432-54C>T (n.1432-54C>T)
c.2437-54C>T (n.2437-54C>T)
c.2617-54C>T (n.2617-54C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.51784738G=CA2369155414SALL4c.2743-54C= (n.2743-54C=)
c.412-54C= (n.412-54C=)
c.1432-54C= (n.1432-54C=)
c.2437-54C= (n.2437-54C=)
c.2617-54C= (n.2617-54C=)
20g.51784738G>TCA2653358768SALL4c.2743-54C>A (n.2743-54C>A)
c.412-54C>A (n.412-54C>A)
c.1432-54C>A (n.1432-54C>A)
c.2437-54C>A (n.2437-54C>A)
c.2617-54C>A (n.2617-54C>A)
 gnomAD v4
20g.51784738_51784741delCA2816661523SALL4c.2743-57_2743-54del (n.2743-57_2743-54del)
c.412-57_412-54del (n.412-57_412-54del)
c.1432-57_1432-54del (n.1432-57_1432-54del)
c.2437-57_2437-54del (n.2437-57_2437-54del)
c.2617-57_2617-54del (n.2617-57_2617-54del)
20g.51784739G>ACA2816661524SALL4c.2743-55C>T (n.2743-55C>T)
c.412-55C>T (n.412-55C>T)
c.1432-55C>T (n.1432-55C>T)
c.2437-55C>T (n.2437-55C>T)
c.2617-55C>T (n.2617-55C>T)
20g.51784739G>TCA2653358769SALL4c.2743-55C>A (n.2743-55C>A)
c.412-55C>A (n.412-55C>A)
c.1432-55C>A (n.1432-55C>A)
c.2437-55C>A (n.2437-55C>A)
c.2617-55C>A (n.2617-55C>A)
 gnomAD v4
20g.51784740C>ACA2369155416SALL4c.2743-56G>T (n.2743-56G>T)
c.412-56G>T (n.412-56G>T)
c.1432-56G>T (n.1432-56G>T)
c.2437-56G>T (n.2437-56G>T)
c.2617-56G>T (n.2617-56G>T)
 dbSNP gnomAD v4
20g.51784740C=CA2369155415SALL4c.2743-56G= (n.2743-56G=)
c.412-56G= (n.412-56G=)
c.1432-56G= (n.1432-56G=)
c.2437-56G= (n.2437-56G=)
c.2617-56G= (n.2617-56G=)
20g.51784741A>GCA2816661525SALL4c.2743-57T>C (n.2743-57T>C)
c.412-57T>C (n.412-57T>C)
c.1432-57T>C (n.1432-57T>C)
c.2437-57T>C (n.2437-57T>C)
c.2617-57T>C (n.2617-57T>C)
20g.51784741_51784742insGCA2816661526SALL4c.2743-58_2743-57insC (n.2743-58_2743-57insC)
c.412-58_412-57insC (n.412-58_412-57insC)
c.1432-58_1432-57insC (n.1432-58_1432-57insC)
c.2437-58_2437-57insC (n.2437-58_2437-57insC)
c.2617-58_2617-57insC (n.2617-58_2617-57insC)
20g.51784742A>GCA2816661528SALL4c.2743-58T>C (n.2743-58T>C)
c.412-58T>C (n.412-58T>C)
c.1432-58T>C (n.1432-58T>C)
c.2437-58T>C (n.2437-58T>C)
c.2617-58T>C (n.2617-58T>C)
20g.51784742_51784744delCA2816661527SALL4c.2743-60_2743-58del (n.2743-60_2743-58del)
c.412-60_412-58del (n.412-60_412-58del)
c.1432-60_1432-58del (n.1432-60_1432-58del)
c.2437-60_2437-58del (n.2437-60_2437-58del)
c.2617-60_2617-58del (n.2617-60_2617-58del)

Number of alleles fetched