Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.51141635A>CCA395891446SALL1c.587T>G (p.Ile196Ser)
c.296T>G (p.Ile99Ser)
c.77-4083T>G (n.77-4083T>G)
16g.51141635A>GCA395891450SALL1c.587T>C (p.Ile196Thr)
c.296T>C (p.Ile99Thr)
c.77-4083T>C (n.77-4083T>C)
16g.51141635A>TCA395891448SALL1c.587T>A (p.Ile196Asn)
c.296T>A (p.Ile99Asn)
c.77-4083T>A (n.77-4083T>A)
16g.51141636T>ACA395891452SALL1c.586A>T (p.Ile196Phe)
c.295A>T (p.Ile99Phe)
c.77-4084A>T (n.77-4084A>T)
16g.51141636T>CCA395891453SALL1c.586A>G (p.Ile196Val)
c.295A>G (p.Ile99Val)
c.77-4084A>G (n.77-4084A>G)
 gnomAD v4
16g.51141636T>GCA395891455SALL1c.586A>C (p.Ile196Leu)
c.295A>C (p.Ile99Leu)
c.77-4084A>C (n.77-4084A>C)
16g.51141637G>ACA495781414SALL1c.585C>T (p.Val195=)
c.294C>T (p.Val98=)
c.77-4085C>T (n.77-4085C>T)
16g.51141637G>CCA495781415SALL1c.585C>G (p.Val195=)
c.294C>G (p.Val98=)
c.77-4085C>G (n.77-4085C>G)
16g.51141637G>TCA495781416SALL1c.585C>A (p.Val195=)
c.294C>A (p.Val98=)
c.77-4085C>A (n.77-4085C>A)
16g.51141638A>CCA395891457SALL1c.584T>G (p.Val195Gly)
c.293T>G (p.Val98Gly)
c.77-4086T>G (n.77-4086T>G)
16g.51141638A>GCA395891458SALL1c.584T>C (p.Val195Ala)
c.293T>C (p.Val98Ala)
c.77-4086T>C (n.77-4086T>C)
16g.51141638A>TCA395891460SALL1c.584T>A (p.Val195Asp)
c.293T>A (p.Val98Asp)
c.77-4086T>A (n.77-4086T>A)
16g.51141639C>ACA395891461SALL1c.583G>T (p.Val195Phe)
c.292G>T (p.Val98Phe)
c.77-4087G>T (n.77-4087G>T)
16g.51141639C=CA2222022572SALL1c.583G= (p.Val195=)
c.292G= (p.Val98=)
c.77-4087G= (n.77-4087G=)
16g.51141639C>GCA395891463SALL1c.583G>C (p.Val195Leu)
c.292G>C (p.Val98Leu)
c.77-4087G>C (n.77-4087G>C)
16g.51141639C>TCA8053427SALL1c.583G>A (p.Val195Ile)
c.292G>A (p.Val98Ile)
c.77-4087G>A (n.77-4087G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51141640G>ACA495781417SALL1c.582C>T (p.Asn194=)
c.291C>T (p.Asn97=)
c.77-4088C>T (n.77-4088C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.51141640G>CCA395891465SALL1c.582C>G (p.Asn194Lys)
c.291C>G (p.Asn97Lys)
c.77-4088C>G (n.77-4088C>G)
16g.51141640G=CA2222022576SALL1c.582C= (p.Asn194=)
c.291C= (p.Asn97=)
c.77-4088C= (n.77-4088C=)
16g.51141640G>TCA395891467SALL1c.582C>A (p.Asn194Lys)
c.291C>A (p.Asn97Lys)
c.77-4088C>A (n.77-4088C>A)
 gnomAD v4
16g.51141641T>ACA395891468SALL1c.581A>T (p.Asn194Ile)
c.290A>T (p.Asn97Ile)
c.77-4089A>T (n.77-4089A>T)
16g.51141641T>CCA395891471SALL1c.581A>G (p.Asn194Ser)
c.290A>G (p.Asn97Ser)
c.77-4089A>G (n.77-4089A>G)
 dbSNP
16g.51141641T>GCA395891470SALL1c.581A>C (p.Asn194Thr)
c.290A>C (p.Asn97Thr)
c.77-4089A>C (n.77-4089A>C)
16g.51141641T=CA2222022578SALL1c.581A= (p.Asn194=)
c.290A= (p.Asn97=)
c.77-4089A= (n.77-4089A=)
16g.51141642T>ACA395891473SALL1c.580A>T (p.Asn194Tyr)
c.289A>T (p.Asn97Tyr)
c.77-4090A>T (n.77-4090A>T)
16g.51141642T>CCA395891475SALL1c.580A>G (p.Asn194Asp)
c.289A>G (p.Asn97Asp)
c.77-4090A>G (n.77-4090A>G)
 gnomAD v4
16g.51141642T>GCA395891476SALL1c.580A>C (p.Asn194His)
c.289A>C (p.Asn97His)
c.77-4090A>C (n.77-4090A>C)
16g.51141643G>ACA495781418SALL1c.579C>T (p.Ser193=)
c.288C>T (p.Ser96=)
c.77-4091C>T (n.77-4091C>T)
16g.51141643G>CCA395891478SALL1c.579C>G (p.Ser193Arg)
c.288C>G (p.Ser96Arg)
c.77-4091C>G (n.77-4091C>G)
16g.51141643G>TCA395891479SALL1c.579C>A (p.Ser193Arg)
c.288C>A (p.Ser96Arg)
c.77-4091C>A (n.77-4091C>A)
16g.51141644C>ACA395891480SALL1c.578G>T (p.Ser193Ile)
c.287G>T (p.Ser96Ile)
c.77-4092G>T (n.77-4092G>T)
16g.51141644C=CA2222022580SALL1c.578G= (p.Ser193=)
c.287G= (p.Ser96=)
c.77-4092G= (n.77-4092G=)
16g.51141644C>GCA395891481SALL1c.578G>C (p.Ser193Thr)
c.287G>C (p.Ser96Thr)
c.77-4092G>C (n.77-4092G>C)
16g.51141644C>TCA8053428SALL1c.578G>A (p.Ser193Asn)
c.287G>A (p.Ser96Asn)
c.77-4092G>A (n.77-4092G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.51141645T>ACA395891484SALL1c.577A>T (p.Ser193Cys)
c.286A>T (p.Ser96Cys)
c.77-4093A>T (n.77-4093A>T)
 COSMIC
16g.51141645T>CCA395891486SALL1c.577A>G (p.Ser193Gly)
c.286A>G (p.Ser96Gly)
c.77-4093A>G (n.77-4093A>G)
16g.51141645T>GCA395891487SALL1c.577A>C (p.Ser193Arg)
c.286A>C (p.Ser96Arg)
c.77-4093A>C (n.77-4093A>C)
16g.51141646G>ACA495781419SALL1c.576C>T (p.Asn192=)
c.285C>T (p.Asn95=)
c.77-4094C>T (n.77-4094C>T)
 dbSNP
16g.51141646G>CCA395891488SALL1c.576C>G (p.Asn192Lys)
c.285C>G (p.Asn95Lys)
c.77-4094C>G (n.77-4094C>G)
 COSMIC
16g.51141646G=CA2222022585SALL1c.576C= (p.Asn192=)
c.285C= (p.Asn95=)
c.77-4094C= (n.77-4094C=)
16g.51141646G>TCA395891489SALL1c.576C>A (p.Asn192Lys)
c.285C>A (p.Asn95Lys)
c.77-4094C>A (n.77-4094C>A)
16g.51141647T>ACA395891492SALL1c.575A>T (p.Asn192Ile)
c.284A>T (p.Asn95Ile)
c.77-4095A>T (n.77-4095A>T)
16g.51141647T>CCA395891495SALL1c.575A>G (p.Asn192Ser)
c.284A>G (p.Asn95Ser)
c.77-4095A>G (n.77-4095A>G)
16g.51141647T>GCA395891494SALL1c.575A>C (p.Asn192Thr)
c.284A>C (p.Asn95Thr)
c.77-4095A>C (n.77-4095A>C)
16g.51141648T>ACA395891497SALL1c.574A>T (p.Asn192Tyr)
c.283A>T (p.Asn95Tyr)
c.77-4096A>T (n.77-4096A>T)
16g.51141648T>CCA395891498SALL1c.574A>G (p.Asn192Asp)
c.283A>G (p.Asn95Asp)
c.77-4096A>G (n.77-4096A>G)
 gnomAD v4
16g.51141648T>GCA395891500SALL1c.574A>C (p.Asn192His)
c.283A>C (p.Asn95His)
c.77-4096A>C (n.77-4096A>C)
16g.51141649G>ACA495781420SALL1c.573C>T (p.Ile191=)
c.282C>T (p.Ile94=)
c.77-4097C>T (n.77-4097C>T)
16g.51141649G>CCA395891501SALL1c.573C>G (p.Ile191Met)
c.282C>G (p.Ile94Met)
c.77-4097C>G (n.77-4097C>G)
16g.51141649G>TCA495781421SALL1c.573C>A (p.Ile191=)
c.282C>A (p.Ile94=)
c.77-4097C>A (n.77-4097C>A)
 COSMIC
16g.51141650A=CA2222022590SALL1c.572T= (p.Ile191=)
c.281T= (p.Ile94=)
c.77-4098T= (n.77-4098T=)
16g.51141650A>CCA395891503SALL1c.572T>G (p.Ile191Ser)
c.281T>G (p.Ile94Ser)
c.77-4098T>G (n.77-4098T>G)
16g.51141650A>GCA395891504SALL1c.572T>C (p.Ile191Thr)
c.281T>C (p.Ile94Thr)
c.77-4098T>C (n.77-4098T>C)
 ClinVar dbSNP gnomAD v4
16g.51141650A>TCA395891505SALL1c.572T>A (p.Ile191Asn)
c.281T>A (p.Ile94Asn)
c.77-4098T>A (n.77-4098T>A)
16g.51141651T>ACA395891507SALL1c.571A>T (p.Ile191Phe)
c.280A>T (p.Ile94Phe)
c.77-4099A>T (n.77-4099A>T)
16g.51141651T>CCA395891509SALL1c.571A>G (p.Ile191Val)
c.280A>G (p.Ile94Val)
c.77-4099A>G (n.77-4099A>G)
16g.51141651T>GCA395891510SALL1c.571A>C (p.Ile191Leu)
c.280A>C (p.Ile94Leu)
c.77-4099A>C (n.77-4099A>C)
16g.51141652T>ACA495781422SALL1c.570A>T (p.Val190=)
c.279A>T (p.Val93=)
c.77-4100A>T (n.77-4100A>T)
 dbSNP gnomAD v3 gnomAD v4
16g.51141652T>CCA495781423SALL1c.570A>G (p.Val190=)
c.279A>G (p.Val93=)
c.77-4100A>G (n.77-4100A>G)
 dbSNP gnomAD v3 gnomAD v4
16g.51141652T>GCA495781424SALL1c.570A>C (p.Val190=)
c.279A>C (p.Val93=)
c.77-4100A>C (n.77-4100A>C)
16g.51141652T=CA2222022602SALL1c.570A= (p.Val190=)
c.279A= (p.Val93=)
c.77-4100A= (n.77-4100A=)
16g.51141653A>CCA395891512SALL1c.569T>G (p.Val190Gly)
c.278T>G (p.Val93Gly)
c.77-4101T>G (n.77-4101T>G)
16g.51141653A>GCA395891514SALL1c.569T>C (p.Val190Ala)
c.278T>C (p.Val93Ala)
c.77-4101T>C (n.77-4101T>C)
 gnomAD v4
16g.51141653A>TCA395891511SALL1c.569T>A (p.Val190Glu)
c.278T>A (p.Val93Glu)
c.77-4101T>A (n.77-4101T>A)
16g.51141654C>ACA395891516SALL1c.568G>T (p.Val190Leu)
c.277G>T (p.Val93Leu)
c.77-4102G>T (n.77-4102G>T)
 dbSNP gnomAD v3 gnomAD v4
16g.51141654C=CA2222022605SALL1c.568G= (p.Val190=)
c.277G= (p.Val93=)
c.77-4102G= (n.77-4102G=)
16g.51141654C>GCA395891517SALL1c.568G>C (p.Val190Leu)
c.277G>C (p.Val93Leu)
c.77-4102G>C (n.77-4102G>C)
16g.51141654C>TCA8053429SALL1c.568G>A (p.Val190Ile)
c.277G>A (p.Val93Ile)
c.77-4102G>A (n.77-4102G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51141655G>ACA8053430SALL1c.567C>T (p.Ser189=)
c.276C>T (p.Ser92=)
c.77-4103C>T (n.77-4103C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51141655G>CCA8053431SALL1c.567C>G (p.Ser189=)
c.276C>G (p.Ser92=)
c.77-4103C>G (n.77-4103C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51141655G=CA2222022611SALL1c.567C= (p.Ser189=)
c.276C= (p.Ser92=)
c.77-4103C= (n.77-4103C=)
16g.51141655G>TCA495781425SALL1c.567C>A (p.Ser189=)
c.276C>A (p.Ser92=)
c.77-4103C>A (n.77-4103C>A)
16g.51141656G>ACA395891521SALL1c.566C>T (p.Ser189Phe)
c.275C>T (p.Ser92Phe)
c.77-4104C>T (n.77-4104C>T)
16g.51141656G>CCA395891522SALL1c.566C>G (p.Ser189Cys)
c.275C>G (p.Ser92Cys)
c.77-4104C>G (n.77-4104C>G)
16g.51141656G>TCA395891524SALL1c.566C>A (p.Ser189Tyr)
c.275C>A (p.Ser92Tyr)
c.77-4104C>A (n.77-4104C>A)
16g.51141658_51141659dupCA2580613476SALL1c.565_566dup (p.Val190ProfsTer2)
c.274_275dup (p.Val93ProfsTer2)
c.77-4105_77-4104dup (n.77-4105_77-4104dup)
 ClinVar dbSNP
16g.51141657A>CCA395891526SALL1c.565T>G (p.Ser189Ala)
c.274T>G (p.Ser92Ala)
c.77-4105T>G (n.77-4105T>G)
16g.51141657A>GCA395891527SALL1c.565T>C (p.Ser189Pro)
c.274T>C (p.Ser92Pro)
c.77-4105T>C (n.77-4105T>C)
16g.51141657A>TCA395891528SALL1c.565T>A (p.Ser189Thr)
c.274T>A (p.Ser92Thr)
c.77-4105T>A (n.77-4105T>A)
16g.51141658G>ACA495781426SALL1c.564C>T (p.Phe188=)
c.273C>T (p.Phe91=)
c.77-4106C>T (n.77-4106C>T)
16g.51141658G>CCA395891530SALL1c.564C>G (p.Phe188Leu)
c.273C>G (p.Phe91Leu)
c.77-4106C>G (n.77-4106C>G)
16g.51141658G=CA2222022623SALL1c.564C= (p.Phe188=)
c.273C= (p.Phe91=)
c.77-4106C= (n.77-4106C=)
16g.51141658G>TCA281303007SALL1c.564C>A (p.Phe188Leu)
c.273C>A (p.Phe91Leu)
c.77-4106C>A (n.77-4106C>A)
 dbSNP gnomAD v4
16g.51141659A>CCA395891536SALL1c.563T>G (p.Phe188Cys)
c.272T>G (p.Phe91Cys)
c.77-4107T>G (n.77-4107T>G)
16g.51141659A>GCA395891534SALL1c.563T>C (p.Phe188Ser)
c.272T>C (p.Phe91Ser)
c.77-4107T>C (n.77-4107T>C)
16g.51141659A>TCA395891533SALL1c.563T>A (p.Phe188Tyr)
c.272T>A (p.Phe91Tyr)
c.77-4107T>A (n.77-4107T>A)
16g.51141660A>CCA395891537SALL1c.562T>G (p.Phe188Val)
c.271T>G (p.Phe91Val)
c.77-4108T>G (n.77-4108T>G)
 gnomAD v4
16g.51141660A>GCA395891538SALL1c.562T>C (p.Phe188Leu)
c.271T>C (p.Phe91Leu)
c.77-4108T>C (n.77-4108T>C)
16g.51141660A>TCA395891539SALL1c.562T>A (p.Phe188Ile)
c.271T>A (p.Phe91Ile)
c.77-4108T>A (n.77-4108T>A)
16g.51141661G>ACA495781427SALL1c.561C>T (p.Asn187=)
c.270C>T (p.Asn90=)
c.77-4109C>T (n.77-4109C>T)
16g.51141661G>CCA395891541SALL1c.561C>G (p.Asn187Lys)
c.270C>G (p.Asn90Lys)
c.77-4109C>G (n.77-4109C>G)
16g.51141661G>TCA395891542SALL1c.561C>A (p.Asn187Lys)
c.270C>A (p.Asn90Lys)
c.77-4109C>A (n.77-4109C>A)
16g.51141662T>ACA395891545SALL1c.560A>T (p.Asn187Ile)
c.269A>T (p.Asn90Ile)
c.77-4110A>T (n.77-4110A>T)
 gnomAD v4
16g.51141662T>CCA8053433SALL1c.560A>G (p.Asn187Ser)
c.269A>G (p.Asn90Ser)
c.77-4110A>G (n.77-4110A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51141662T>GCA8053432SALL1c.560A>C (p.Asn187Thr)
c.269A>C (p.Asn90Thr)
c.77-4110A>C (n.77-4110A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.51141662T=CA2222022630SALL1c.560A= (p.Asn187=)
c.269A= (p.Asn90=)
c.77-4110A= (n.77-4110A=)
16g.51141663T>ACA395891547SALL1c.559A>T (p.Asn187Tyr)
c.268A>T (p.Asn90Tyr)
c.77-4111A>T (n.77-4111A>T)
16g.51141663T>CCA8053434SALL1c.559A>G (p.Asn187Asp)
c.268A>G (p.Asn90Asp)
c.77-4111A>G (n.77-4111A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51141663T>GCA395891550SALL1c.559A>C (p.Asn187His)
c.268A>C (p.Asn90His)
c.77-4111A>C (n.77-4111A>C)
16g.51141663T=CA2222022635SALL1c.559A= (p.Asn187=)
c.268A= (p.Asn90=)
c.77-4111A= (n.77-4111A=)
16g.51141664G>ACA495781428SALL1c.558C>T (p.Gly186=)
c.267C>T (p.Gly89=)
c.77-4112C>T (n.77-4112C>T)
 gnomAD v4
16g.51141664G>CCA495781429SALL1c.558C>G (p.Gly186=)
c.267C>G (p.Gly89=)
c.77-4112C>G (n.77-4112C>G)
16g.51141664G>TCA495781430SALL1c.558C>A (p.Gly186=)
c.267C>A (p.Gly89=)
c.77-4112C>A (n.77-4112C>A)
16g.51141665C>ACA395891551SALL1c.557G>T (p.Gly186Val)
c.266G>T (p.Gly89Val)
c.77-4113G>T (n.77-4113G>T)
16g.51141665C>GCA395891553SALL1c.557G>C (p.Gly186Ala)
c.266G>C (p.Gly89Ala)
c.77-4113G>C (n.77-4113G>C)
16g.51141665C>TCA395891554SALL1c.557G>A (p.Gly186Asp)
c.266G>A (p.Gly89Asp)
c.77-4113G>A (n.77-4113G>A)
 gnomAD v4
16g.51141666C>ACA395891558SALL1c.556G>T (p.Gly186Cys)
c.265G>T (p.Gly89Cys)
c.77-4114G>T (n.77-4114G>T)
16g.51141666C>GCA395891559SALL1c.556G>C (p.Gly186Arg)
c.265G>C (p.Gly89Arg)
c.77-4114G>C (n.77-4114G>C)
16g.51141666C>TCA395891556SALL1c.556G>A (p.Gly186Ser)
c.265G>A (p.Gly89Ser)
c.77-4114G>A (n.77-4114G>A)
16g.51141667C>ACA495781431SALL1c.555G>T (p.Leu185=)
c.264G>T (p.Leu88=)
c.77-4115G>T (n.77-4115G>T)
 dbSNP gnomAD v2
16g.51141667C=CA2222022642SALL1c.555G= (p.Leu185=)
c.264G= (p.Leu88=)
c.77-4115G= (n.77-4115G=)
16g.51141667C>GCA495781433SALL1c.555G>C (p.Leu185=)
c.264G>C (p.Leu88=)
c.77-4115G>C (n.77-4115G>C)
16g.51141667C>TCA495781432SALL1c.555G>A (p.Leu185=)
c.264G>A (p.Leu88=)
c.77-4115G>A (n.77-4115G>A)
 dbSNP
16g.51141668A>CCA395891561SALL1c.554T>G (p.Leu185Arg)
c.263T>G (p.Leu88Arg)
c.77-4116T>G (n.77-4116T>G)
16g.51141668A>GCA395891563SALL1c.554T>C (p.Leu185Pro)
c.263T>C (p.Leu88Pro)
c.77-4116T>C (n.77-4116T>C)
 COSMIC
16g.51141668A>TCA395891564SALL1c.554T>A (p.Leu185Gln)
c.263T>A (p.Leu88Gln)
c.77-4116T>A (n.77-4116T>A)
 gnomAD v4
16g.51141669G>ACA495781434SALL1c.553C>T (p.Leu185=)
c.262C>T (p.Leu88=)
c.77-4117C>T (n.77-4117C>T)
16g.51141669G>CCA395891565SALL1c.553C>G (p.Leu185Val)
c.262C>G (p.Leu88Val)
c.77-4117C>G (n.77-4117C>G)
16g.51141669G>TCA395891566SALL1c.553C>A (p.Leu185Met)
c.262C>A (p.Leu88Met)
c.77-4117C>A (n.77-4117C>A)
16g.51141670T>ACA495781435SALL1c.552A>T (p.Thr184=)
c.261A>T (p.Thr87=)
c.77-4118A>T (n.77-4118A>T)
16g.51141670T>CCA495781436SALL1c.552A>G (p.Thr184=)
c.261A>G (p.Thr87=)
c.77-4118A>G (n.77-4118A>G)
16g.51141670T>GCA495781437SALL1c.552A>C (p.Thr184=)
c.261A>C (p.Thr87=)
c.77-4118A>C (n.77-4118A>C)
16g.51141671G>ACA395891567SALL1c.551C>T (p.Thr184Ile)
c.260C>T (p.Thr87Ile)
c.77-4119C>T (n.77-4119C>T)
16g.51141671G>CCA395891569SALL1c.551C>G (p.Thr184Arg)
c.260C>G (p.Thr87Arg)
c.77-4119C>G (n.77-4119C>G)
16g.51141671G>TCA395891571SALL1c.551C>A (p.Thr184Lys)
c.260C>A (p.Thr87Lys)
c.77-4119C>A (n.77-4119C>A)
16g.51141672T>ACA395891573SALL1c.550A>T (p.Thr184Ser)
c.259A>T (p.Thr87Ser)
c.77-4120A>T (n.77-4120A>T)
16g.51141672T>CCA8053435SALL1c.550A>G (p.Thr184Ala)
c.259A>G (p.Thr87Ala)
c.77-4120A>G (n.77-4120A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51141672T>GCA395891574SALL1c.550A>C (p.Thr184Pro)
c.259A>C (p.Thr87Pro)
c.77-4120A>C (n.77-4120A>C)
16g.51141672T=CA2222022647SALL1c.550A= (p.Thr184=)
c.259A= (p.Thr87=)
c.77-4120A= (n.77-4120A=)
16g.51141673T>ACA495781438SALL1c.549A>T (p.Thr183=)
c.258A>T (p.Thr86=)
c.77-4121A>T (n.77-4121A>T)
16g.51141673T>CCA8053436SALL1c.549A>G (p.Thr183=)
c.258A>G (p.Thr86=)
c.77-4121A>G (n.77-4121A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51141673T>GCA495781439SALL1c.549A>C (p.Thr183=)
c.258A>C (p.Thr86=)
c.77-4121A>C (n.77-4121A>C)
16g.51141673T=CA2222022653SALL1c.549A= (p.Thr183=)
c.258A= (p.Thr86=)
c.77-4121A= (n.77-4121A=)
16g.51141674G>ACA395891580SALL1c.548C>T (p.Thr183Ile)
c.257C>T (p.Thr86Ile)
c.77-4122C>T (n.77-4122C>T)
 dbSNP gnomAD v4
16g.51141674G>CCA395891579SALL1c.548C>G (p.Thr183Arg)
c.257C>G (p.Thr86Arg)
c.77-4122C>G (n.77-4122C>G)
16g.51141674G=CA2222022662SALL1c.548C= (p.Thr183=)
c.257C= (p.Thr86=)
c.77-4122C= (n.77-4122C=)
16g.51141674G>TCA395891578SALL1c.548C>A (p.Thr183Lys)
c.257C>A (p.Thr86Lys)
c.77-4122C>A (n.77-4122C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.51141675T>ACA395891582SALL1c.547A>T (p.Thr183Ser)
c.256A>T (p.Thr86Ser)
c.77-4123A>T (n.77-4123A>T)
16g.51141675T>CCA395891584SALL1c.547A>G (p.Thr183Ala)
c.256A>G (p.Thr86Ala)
c.77-4123A>G (n.77-4123A>G)
 gnomAD v4
16g.51141675T>GCA395891585SALL1c.547A>C (p.Thr183Pro)
c.256A>C (p.Thr86Pro)
c.77-4123A>C (n.77-4123A>C)
16g.51141676C>ACA495781440SALL1c.546G>T (p.Leu182=)
c.255G>T (p.Leu85=)
c.77-4124G>T (n.77-4124G>T)
16g.51141676C=CA2222022669SALL1c.546G= (p.Leu182=)
c.255G= (p.Leu85=)
c.77-4124G= (n.77-4124G=)
16g.51141676C>GCA495781441SALL1c.546G>C (p.Leu182=)
c.255G>C (p.Leu85=)
c.77-4124G>C (n.77-4124G>C)
16g.51141676C>TCA495781442SALL1c.546G>A (p.Leu182=)
c.255G>A (p.Leu85=)
c.77-4124G>A (n.77-4124G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51141677A>CCA395891587SALL1c.545T>G (p.Leu182Arg)
c.254T>G (p.Leu85Arg)
c.77-4125T>G (n.77-4125T>G)
16g.51141677A>GCA395891589SALL1c.545T>C (p.Leu182Pro)
c.254T>C (p.Leu85Pro)
c.77-4125T>C (n.77-4125T>C)
 gnomAD v4
16g.51141677A>TCA395891590SALL1c.545T>A (p.Leu182Gln)
c.254T>A (p.Leu85Gln)
c.77-4125T>A (n.77-4125T>A)
16g.51141678G>ACA495781443SALL1c.544C>T (p.Leu182=)
c.253C>T (p.Leu85=)
c.77-4126C>T (n.77-4126C>T)
16g.51141678G>CCA395891592SALL1c.544C>G (p.Leu182Val)
c.253C>G (p.Leu85Val)
c.77-4126C>G (n.77-4126C>G)
16g.51141678G>TCA395891593SALL1c.544C>A (p.Leu182Met)
c.253C>A (p.Leu85Met)
c.77-4126C>A (n.77-4126C>A)
16g.51141679G>ACA495781444SALL1c.543C>T (p.Asp181=)
c.252C>T (p.Asp84=)
c.77-4127C>T (n.77-4127C>T)
 gnomAD v4
16g.51141679G>CCA395891595SALL1c.543C>G (p.Asp181Glu)
c.252C>G (p.Asp84Glu)
c.77-4127C>G (n.77-4127C>G)
16g.51141679G>TCA395891596SALL1c.543C>A (p.Asp181Glu)
c.252C>A (p.Asp84Glu)
c.77-4127C>A (n.77-4127C>A)
16g.51141680T>ACA395891598SALL1c.542A>T (p.Asp181Val)
c.251A>T (p.Asp84Val)
c.77-4128A>T (n.77-4128A>T)
16g.51141680T>CCA395891600SALL1c.542A>G (p.Asp181Gly)
c.251A>G (p.Asp84Gly)
c.77-4128A>G (n.77-4128A>G)
 dbSNP
16g.51141680T>GCA395891601SALL1c.542A>C (p.Asp181Ala)
c.251A>C (p.Asp84Ala)
c.77-4128A>C (n.77-4128A>C)
16g.51141681C>ACA395891604SALL1c.541G>T (p.Asp181Tyr)
c.250G>T (p.Asp84Tyr)
c.77-4129G>T (n.77-4129G>T)
16g.51141681C=CA2222022678SALL1c.541G= (p.Asp181=)
c.250G= (p.Asp84=)
c.77-4129G= (n.77-4129G=)
16g.51141681C>GCA8053437SALL1c.541G>C (p.Asp181His)
c.250G>C (p.Asp84His)
c.77-4129G>C (n.77-4129G>C)
 dbSNP ExAC gnomAD v2
16g.51141681C>TCA281303019SALL1c.541G>A (p.Asp181Asn)
c.250G>A (p.Asp84Asn)
c.77-4129G>A (n.77-4129G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51141682C>ACA495781445SALL1c.540G>T (p.Gly180=)
c.249G>T (p.Gly83=)
c.77-4130G>T (n.77-4130G>T)
16g.51141682C=CA2222022682SALL1c.540G= (p.Gly180=)
c.249G= (p.Gly83=)
c.77-4130G= (n.77-4130G=)
16g.51141682C>GCA495781446SALL1c.540G>C (p.Gly180=)
c.249G>C (p.Gly83=)
c.77-4130G>C (n.77-4130G>C)
16g.51141682C>TCA8053438SALL1c.540G>A (p.Gly180=)
c.249G>A (p.Gly83=)
c.77-4130G>A (n.77-4130G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.51141683C>ACA395891606SALL1c.539G>T (p.Gly180Val)
c.248G>T (p.Gly83Val)
c.77-4131G>T (n.77-4131G>T)
16g.51141683C>GCA395891608SALL1c.539G>C (p.Gly180Ala)
c.248G>C (p.Gly83Ala)
c.77-4131G>C (n.77-4131G>C)
16g.51141683C>TCA395891610SALL1c.539G>A (p.Gly180Glu)
c.248G>A (p.Gly83Glu)
c.77-4131G>A (n.77-4131G>A)
16g.51141684C>ACA395891611SALL1c.538G>T (p.Gly180Trp)
c.247G>T (p.Gly83Trp)
c.77-4132G>T (n.77-4132G>T)
16g.51141684C=CA2222022685SALL1c.538G= (p.Gly180=)
c.247G= (p.Gly83=)
c.77-4132G= (n.77-4132G=)
16g.51141684C>GCA395891613SALL1c.538G>C (p.Gly180Arg)
c.247G>C (p.Gly83Arg)
c.77-4132G>C (n.77-4132G>C)
16g.51141684C>TCA8053439SALL1c.538G>A (p.Gly180Arg)
c.247G>A (p.Gly83Arg)
c.77-4132G>A (n.77-4132G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.51141685G>ACA8053440SALL1c.537C>T (p.Leu179=)
c.246C>T (p.Leu82=)
c.77-4133C>T (n.77-4133C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51141685G>CCA495781447SALL1c.537C>G (p.Leu179=)
c.246C>G (p.Leu82=)
c.77-4133C>G (n.77-4133C>G)
16g.51141685G=CA2222022690SALL1c.537C= (p.Leu179=)
c.246C= (p.Leu82=)
c.77-4133C= (n.77-4133C=)
16g.51141685G>TCA495781448SALL1c.537C>A (p.Leu179=)
c.246C>A (p.Leu82=)
c.77-4133C>A (n.77-4133C>A)
 gnomAD v4
16g.51141686A>CCA395891618SALL1c.536T>G (p.Leu179Arg)
c.245T>G (p.Leu82Arg)
c.77-4134T>G (n.77-4134T>G)
16g.51141686A>GCA395891616SALL1c.536T>C (p.Leu179Pro)
c.245T>C (p.Leu82Pro)
c.77-4134T>C (n.77-4134T>C)
 gnomAD v4
16g.51141686A>TCA395891617SALL1c.536T>A (p.Leu179His)
c.245T>A (p.Leu82His)
c.77-4134T>A (n.77-4134T>A)
16g.51141687G>ACA395891619SALL1c.535C>T (p.Leu179Phe)
c.244C>T (p.Leu82Phe)
c.77-4135C>T (n.77-4135C>T)
 gnomAD v4
16g.51141687G>CCA395891620SALL1c.535C>G (p.Leu179Val)
c.244C>G (p.Leu82Val)
c.77-4135C>G (n.77-4135C>G)
 gnomAD v4
16g.51141687G>TCA395891622SALL1c.535C>A (p.Leu179Ile)
c.244C>A (p.Leu82Ile)
c.77-4135C>A (n.77-4135C>A)
16g.51141688T>ACA395891623SALL1c.534A>T (p.Gln178His)
c.243A>T (p.Gln81His)
c.77-4136A>T (n.77-4136A>T)
16g.51141688T>CCA495781449SALL1c.534A>G (p.Gln178=)
c.243A>G (p.Gln81=)
c.77-4136A>G (n.77-4136A>G)
 gnomAD v4
16g.51141688T>GCA395891625SALL1c.534A>C (p.Gln178His)
c.243A>C (p.Gln81His)
c.77-4136A>C (n.77-4136A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51141688T=CA2222022693SALL1c.534A= (p.Gln178=)
c.243A= (p.Gln81=)
c.77-4136A= (n.77-4136A=)
16g.51141689T>ACA395891627SALL1c.533A>T (p.Gln178Leu)
c.242A>T (p.Gln81Leu)
c.77-4137A>T (n.77-4137A>T)
16g.51141689T>CCA395891629SALL1c.533A>G (p.Gln178Arg)
c.242A>G (p.Gln81Arg)
c.77-4137A>G (n.77-4137A>G)
16g.51141689T>GCA395891628SALL1c.533A>C (p.Gln178Pro)
c.242A>C (p.Gln81Pro)
c.77-4137A>C (n.77-4137A>C)
 gnomAD v4
16g.51141690G>ACA395891631SALL1c.532C>T (p.Gln178Ter)
c.241C>T (p.Gln81Ter)
c.77-4138C>T (n.77-4138C>T)
16g.51141690G>CCA395891633SALL1c.532C>G (p.Gln178Glu)
c.241C>G (p.Gln81Glu)
c.77-4138C>G (n.77-4138C>G)
16g.51141690G>TCA395891634SALL1c.532C>A (p.Gln178Lys)
c.241C>A (p.Gln81Lys)
c.77-4138C>A (n.77-4138C>A)
16g.51141691A>CCA495781450SALL1c.531T>G (p.Pro177=)
c.240T>G (p.Pro80=)
c.77-4139T>G (n.77-4139T>G)
16g.51141691A>GCA495781451SALL1c.531T>C (p.Pro177=)
c.240T>C (p.Pro80=)
c.77-4139T>C (n.77-4139T>C)
16g.51141691A>TCA495781452SALL1c.531T>A (p.Pro177=)
c.240T>A (p.Pro80=)
c.77-4139T>A (n.77-4139T>A)
16g.51141692G>ACA395891635SALL1c.530C>T (p.Pro177Leu)
c.239C>T (p.Pro80Leu)
c.77-4140C>T (n.77-4140C>T)
16g.51141692G>CCA395891636SALL1c.530C>G (p.Pro177Arg)
c.239C>G (p.Pro80Arg)
c.77-4140C>G (n.77-4140C>G)
16g.51141692G>TCA395891638SALL1c.530C>A (p.Pro177His)
c.239C>A (p.Pro80His)
c.77-4140C>A (n.77-4140C>A)
16g.51141693G>ACA395891639SALL1c.529C>T (p.Pro177Ser)
c.238C>T (p.Pro80Ser)
c.77-4141C>T (n.77-4141C>T)
16g.51141693G>CCA395891640SALL1c.529C>G (p.Pro177Ala)
c.238C>G (p.Pro80Ala)
c.77-4141C>G (n.77-4141C>G)
16g.51141693G>TCA395891641SALL1c.529C>A (p.Pro177Thr)
c.238C>A (p.Pro80Thr)
c.77-4141C>A (n.77-4141C>A)
16g.51141694T>ACA495781453SALL1c.528A>T (p.Leu176=)
c.237A>T (p.Leu79=)
c.77-4142A>T (n.77-4142A>T)
16g.51141694T>CCA495781454SALL1c.528A>G (p.Leu176=)
c.237A>G (p.Leu79=)
c.77-4142A>G (n.77-4142A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51141694T>GCA495781455SALL1c.528A>C (p.Leu176=)
c.237A>C (p.Leu79=)
c.77-4142A>C (n.77-4142A>C)
16g.51141694T=CA2222022698SALL1c.528A= (p.Leu176=)
c.237A= (p.Leu79=)
c.77-4142A= (n.77-4142A=)
16g.51141695A=CA2222022701SALL1c.527T= (p.Leu176=)
c.236T= (p.Leu79=)
c.77-4143T= (n.77-4143T=)
16g.51141695A>CCA395891643SALL1c.527T>G (p.Leu176Arg)
c.236T>G (p.Leu79Arg)
c.77-4143T>G (n.77-4143T>G)
16g.51141695A>GCA395891644SALL1c.527T>C (p.Leu176Pro)
c.236T>C (p.Leu79Pro)
c.77-4143T>C (n.77-4143T>C)
16g.51141695A>TCA395891646SALL1c.527T>A (p.Leu176Gln)
c.236T>A (p.Leu79Gln)
c.77-4143T>A (n.77-4143T>A)
 dbSNP
16g.51141696G>ACA495781456SALL1c.526C>T (p.Leu176=)
c.235C>T (p.Leu79=)
c.77-4144C>T (n.77-4144C>T)
16g.51141696G>CCA395891647SALL1c.526C>G (p.Leu176Val)
c.235C>G (p.Leu79Val)
c.77-4144C>G (n.77-4144C>G)
16g.51141696G>TCA395891649SALL1c.526C>A (p.Leu176Ile)
c.235C>A (p.Leu79Ile)
c.77-4144C>A (n.77-4144C>A)
16g.51141697A>CCA495781457SALL1c.525T>G (p.Ser175=)
c.234T>G (p.Ser78=)
c.77-4145T>G (n.77-4145T>G)
16g.51141697A>GCA495781458SALL1c.525T>C (p.Ser175=)
c.234T>C (p.Ser78=)
c.77-4145T>C (n.77-4145T>C)
16g.51141697A>TCA495781459SALL1c.525T>A (p.Ser175=)
c.234T>A (p.Ser78=)
c.77-4145T>A (n.77-4145T>A)
16g.51141698G>ACA395891651SALL1c.524C>T (p.Ser175Phe)
c.233C>T (p.Ser78Phe)
c.77-4146C>T (n.77-4146C>T)
16g.51141698G>CCA395891652SALL1c.524C>G (p.Ser175Cys)
c.233C>G (p.Ser78Cys)
c.77-4146C>G (n.77-4146C>G)
16g.51141698G>TCA395891653SALL1c.524C>A (p.Ser175Tyr)
c.233C>A (p.Ser78Tyr)
c.77-4146C>A (n.77-4146C>A)
16g.51141699A=CA2222022702SALL1c.523T= (p.Ser175=)
c.232T= (p.Ser78=)
c.77-4147T= (n.77-4147T=)
16g.51141699A>CCA395891655SALL1c.523T>G (p.Ser175Ala)
c.232T>G (p.Ser78Ala)
c.77-4147T>G (n.77-4147T>G)
16g.51141699A>GCA395891656SALL1c.523T>C (p.Ser175Pro)
c.232T>C (p.Ser78Pro)
c.77-4147T>C (n.77-4147T>C)
 dbSNP gnomAD v3 gnomAD v4
16g.51141699A>TCA395891658SALL1c.523T>A (p.Ser175Thr)
c.232T>A (p.Ser78Thr)
c.77-4147T>A (n.77-4147T>A)
16g.51141700G>ACA495781461SALL1c.522C>T (p.Thr174=)
c.231C>T (p.Thr77=)
c.77-4148C>T (n.77-4148C>T)
16g.51141700G>CCA495781462SALL1c.522C>G (p.Thr174=)
c.231C>G (p.Thr77=)
c.77-4148C>G (n.77-4148C>G)
16g.51141700G>TCA495781460SALL1c.522C>A (p.Thr174=)
c.231C>A (p.Thr77=)
c.77-4148C>A (n.77-4148C>A)
16g.51141701G>ACA8053441SALL1c.521C>T (p.Thr174Ile)
c.230C>T (p.Thr77Ile)
c.77-4149C>T (n.77-4149C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.51141701G>CCA395891661SALL1c.521C>G (p.Thr174Ser)
c.230C>G (p.Thr77Ser)
c.77-4149C>G (n.77-4149C>G)
16g.51141701G=CA2222022705SALL1c.521C= (p.Thr174=)
c.230C= (p.Thr77=)
c.77-4149C= (n.77-4149C=)
16g.51141701G>TCA395891660SALL1c.521C>A (p.Thr174Asn)
c.230C>A (p.Thr77Asn)
c.77-4149C>A (n.77-4149C>A)
16g.51141702T>ACA395891663SALL1c.520A>T (p.Thr174Ser)
c.229A>T (p.Thr77Ser)
c.77-4150A>T (n.77-4150A>T)
16g.51141702T>CCA395891665SALL1c.520A>G (p.Thr174Ala)
c.229A>G (p.Thr77Ala)
c.77-4150A>G (n.77-4150A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51141702T>GCA395891666SALL1c.520A>C (p.Thr174Pro)
c.229A>C (p.Thr77Pro)
c.77-4150A>C (n.77-4150A>C)
16g.51141702T=CA2222022710SALL1c.520A= (p.Thr174=)
c.229A= (p.Thr77=)
c.77-4150A= (n.77-4150A=)
16g.51141703T>ACA495781463SALL1c.519A>T (p.Thr173=)
c.228A>T (p.Thr76=)
c.77-4151A>T (n.77-4151A>T)
 gnomAD v4
16g.51141703T>CCA495781464SALL1c.519A>G (p.Thr173=)
c.228A>G (p.Thr76=)
c.77-4151A>G (n.77-4151A>G)
16g.51141703T>GCA495781465SALL1c.519A>C (p.Thr173=)
c.228A>C (p.Thr76=)
c.77-4151A>C (n.77-4151A>C)
16g.51141704G>ACA395891668SALL1c.518C>T (p.Thr173Ile)
c.227C>T (p.Thr76Ile)
c.77-4152C>T (n.77-4152C>T)
 COSMIC
16g.51141704G>CCA395891669SALL1c.518C>G (p.Thr173Arg)
c.227C>G (p.Thr76Arg)
c.77-4152C>G (n.77-4152C>G)
16g.51141704G>TCA395891671SALL1c.518C>A (p.Thr173Lys)
c.227C>A (p.Thr76Lys)
c.77-4152C>A (n.77-4152C>A)
16g.51141705T>ACA395891673SALL1c.517A>T (p.Thr173Ser)
c.226A>T (p.Thr76Ser)
c.77-4153A>T (n.77-4153A>T)
16g.51141705T>CCA395891676SALL1c.517A>G (p.Thr173Ala)
c.226A>G (p.Thr76Ala)
c.77-4153A>G (n.77-4153A>G)
16g.51141705T>GCA395891675SALL1c.517A>C (p.Thr173Pro)
c.226A>C (p.Thr76Pro)
c.77-4153A>C (n.77-4153A>C)
16g.51141706G>ACA495781466SALL1c.516C>T (p.Ile172=)
c.225C>T (p.Ile75=)
c.77-4154C>T (n.77-4154C>T)
 dbSNP gnomAD v4
16g.51141706G>CCA395891678SALL1c.516C>G (p.Ile172Met)
c.225C>G (p.Ile75Met)
c.77-4154C>G (n.77-4154C>G)
 gnomAD v4
16g.51141706G=CA2222022714SALL1c.516C= (p.Ile172=)
c.225C= (p.Ile75=)
c.77-4154C= (n.77-4154C=)
16g.51141706G>TCA495781467SALL1c.516C>A (p.Ile172=)
c.225C>A (p.Ile75=)
c.77-4154C>A (n.77-4154C>A)
16g.51141707A>CCA395891679SALL1c.515T>G (p.Ile172Ser)
c.224T>G (p.Ile75Ser)
c.77-4155T>G (n.77-4155T>G)
16g.51141707A>GCA395891681SALL1c.515T>C (p.Ile172Thr)
c.224T>C (p.Ile75Thr)
c.77-4155T>C (n.77-4155T>C)
16g.51141707A>TCA395891682SALL1c.515T>A (p.Ile172Asn)
c.224T>A (p.Ile75Asn)
c.77-4155T>A (n.77-4155T>A)
16g.51141708T>ACA395891684SALL1c.514A>T (p.Ile172Phe)
c.223A>T (p.Ile75Phe)
c.77-4156A>T (n.77-4156A>T)
16g.51141708T>CCA395891685SALL1c.514A>G (p.Ile172Val)
c.223A>G (p.Ile75Val)
c.77-4156A>G (n.77-4156A>G)
16g.51141708T>GCA395891687SALL1c.514A>C (p.Ile172Leu)
c.223A>C (p.Ile75Leu)
c.77-4156A>C (n.77-4156A>C)
16g.51141709C>ACA8053442SALL1c.513G>T (p.Ala171=)
c.222G>T (p.Ala74=)
c.77-4157G>T (n.77-4157G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.51141709C=CA2222022718SALL1c.513G= (p.Ala171=)
c.222G= (p.Ala74=)
c.77-4157G= (n.77-4157G=)
16g.51141709C>GCA495781468SALL1c.513G>C (p.Ala171=)
c.222G>C (p.Ala74=)
c.77-4157G>C (n.77-4157G>C)
16g.51141709C>TCA495781469SALL1c.513G>A (p.Ala171=)
c.222G>A (p.Ala74=)
c.77-4157G>A (n.77-4157G>A)
 gnomAD v4 COSMIC
16g.51141710G>ACA8053443SALL1c.512C>T (p.Ala171Val)
c.221C>T (p.Ala74Val)
c.77-4158C>T (n.77-4158C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.51141710G>CCA395891690SALL1c.512C>G (p.Ala171Gly)
c.221C>G (p.Ala74Gly)
c.77-4158C>G (n.77-4158C>G)
 gnomAD v4
16g.51141710G=CA2222022721SALL1c.512C= (p.Ala171=)
c.221C= (p.Ala74=)
c.77-4158C= (n.77-4158C=)
16g.51141710G>TCA395891692SALL1c.512C>A (p.Ala171Glu)
c.221C>A (p.Ala74Glu)
c.77-4158C>A (n.77-4158C>A)
 gnomAD v4
16g.51141714_51141757dupCA2580091583SALL1c.469_512dup (p.Ile172AlafsTer26)
c.178_221dup (p.Ile75AlafsTer26)
c.77-4201_77-4158dup (n.77-4201_77-4158dup)
 ClinVar
16g.51141711C>ACA395891694SALL1c.511G>T (p.Ala171Ser)
c.220G>T (p.Ala74Ser)
c.77-4159G>T (n.77-4159G>T)
16g.51141711C>GCA395891697SALL1c.511G>C (p.Ala171Pro)
c.220G>C (p.Ala74Pro)
c.77-4159G>C (n.77-4159G>C)
16g.51141711C>TCA395891695SALL1c.511G>A (p.Ala171Thr)
c.220G>A (p.Ala74Thr)
c.77-4159G>A (n.77-4159G>A)
16g.51141712T>ACA495781470SALL1c.510A>T (p.Ser170=)
c.219A>T (p.Ser73=)
c.77-4160A>T (n.77-4160A>T)
16g.51141712T>CCA495781472SALL1c.510A>G (p.Ser170=)
c.219A>G (p.Ser73=)
c.77-4160A>G (n.77-4160A>G)
 gnomAD v4
16g.51141712T>GCA495781471SALL1c.510A>C (p.Ser170=)
c.219A>C (p.Ser73=)
c.77-4160A>C (n.77-4160A>C)
16g.51141713G>ACA395891699SALL1c.509C>T (p.Ser170Leu)
c.218C>T (p.Ser73Leu)
c.77-4161C>T (n.77-4161C>T)
16g.51141713G>CCA395891702SALL1c.509C>G (p.Ser170Ter)
c.218C>G (p.Ser73Ter)
c.77-4161C>G (n.77-4161C>G)
16g.51141713G>TCA395891700SALL1c.509C>A (p.Ser170Ter)
c.218C>A (p.Ser73Ter)
c.77-4161C>A (n.77-4161C>A)
16g.51141714A>CCA395891703SALL1c.508T>G (p.Ser170Ala)
c.217T>G (p.Ser73Ala)
c.77-4162T>G (n.77-4162T>G)
16g.51141714A>GCA395891705SALL1c.508T>C (p.Ser170Pro)
c.217T>C (p.Ser73Pro)
c.77-4162T>C (n.77-4162T>C)
16g.51141714A>TCA395891706SALL1c.508T>A (p.Ser170Thr)
c.217T>A (p.Ser73Thr)
c.77-4162T>A (n.77-4162T>A)
16g.51141715G>ACA8053444SALL1c.507C>T (p.Thr169=)
c.216C>T (p.Thr72=)
c.77-4163C>T (n.77-4163C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51141715G>CCA495781473SALL1c.507C>G (p.Thr169=)
c.216C>G (p.Thr72=)
c.77-4163C>G (n.77-4163C>G)
16g.51141715G=CA2222022725SALL1c.507C= (p.Thr169=)
c.216C= (p.Thr72=)
c.77-4163C= (n.77-4163C=)
16g.51141715G>TCA495781474SALL1c.507C>A (p.Thr169=)
c.216C>A (p.Thr72=)
c.77-4163C>A (n.77-4163C>A)
16g.51141716G>ACA395891708SALL1c.506C>T (p.Thr169Ile)
c.215C>T (p.Thr72Ile)
c.77-4164C>T (n.77-4164C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51141716G>CCA395891710SALL1c.506C>G (p.Thr169Ser)
c.215C>G (p.Thr72Ser)
c.77-4164C>G (n.77-4164C>G)
16g.51141716G=CA2222022728SALL1c.506C= (p.Thr169=)
c.215C= (p.Thr72=)
c.77-4164C= (n.77-4164C=)
16g.51141716G>TCA395891712SALL1c.506C>A (p.Thr169Asn)
c.215C>A (p.Thr72Asn)
c.77-4164C>A (n.77-4164C>A)
16g.51141717T>ACA395891713SALL1c.505A>T (p.Thr169Ser)
c.214A>T (p.Thr72Ser)
c.77-4165A>T (n.77-4165A>T)
16g.51141717T>CCA281303048SALL1c.505A>G (p.Thr169Ala)
c.214A>G (p.Thr72Ala)
c.77-4165A>G (n.77-4165A>G)
 dbSNP
16g.51141717T>GCA395891715SALL1c.505A>C (p.Thr169Pro)
c.214A>C (p.Thr72Pro)
c.77-4165A>C (n.77-4165A>C)
16g.51141717T=CA2222022731SALL1c.505A= (p.Thr169=)
c.214A= (p.Thr72=)
c.77-4165A= (n.77-4165A=)
16g.51141718A=CA2222022735SALL1c.504T= (p.Gly168=)
c.213T= (p.Gly71=)
c.77-4166T= (n.77-4166T=)
16g.51141718A>CCA495781475SALL1c.504T>G (p.Gly168=)
c.213T>G (p.Gly71=)
c.77-4166T>G (n.77-4166T>G)
16g.51141718A>GCA495781476SALL1c.504T>C (p.Gly168=)
c.213T>C (p.Gly71=)
c.77-4166T>C (n.77-4166T>C)
 dbSNP gnomAD v2 gnomAD v4
16g.51141718A>TCA495781477SALL1c.504T>A (p.Gly168=)
c.213T>A (p.Gly71=)
c.77-4166T>A (n.77-4166T>A)
16g.51141719C>ACA395891719SALL1c.503G>T (p.Gly168Val)
c.212G>T (p.Gly71Val)
c.77-4167G>T (n.77-4167G>T)
16g.51141719C=CA2222022742SALL1c.503G= (p.Gly168=)
c.212G= (p.Gly71=)
c.77-4167G= (n.77-4167G=)
16g.51141719C>GCA395891718SALL1c.503G>C (p.Gly168Ala)
c.212G>C (p.Gly71Ala)
c.77-4167G>C (n.77-4167G>C)
 dbSNP gnomAD v2 gnomAD v4
16g.51141719C>TCA8053445SALL1c.503G>A (p.Gly168Asp)
c.212G>A (p.Gly71Asp)
c.77-4167G>A (n.77-4167G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.51141720C>ACA395891721SALL1c.502G>T (p.Gly168Cys)
c.211G>T (p.Gly71Cys)
c.77-4168G>T (n.77-4168G>T)
16g.51141720C=CA2222022744SALL1c.502G= (p.Gly168=)
c.211G= (p.Gly71=)
c.77-4168G= (n.77-4168G=)
16g.51141720C>GCA395891723SALL1c.502G>C (p.Gly168Arg)
c.211G>C (p.Gly71Arg)
c.77-4168G>C (n.77-4168G>C)
16g.51141720C>TCA395891724SALL1c.502G>A (p.Gly168Ser)
c.211G>A (p.Gly71Ser)
c.77-4168G>A (n.77-4168G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.51141721T>ACA495781478SALL1c.501A>T (p.Thr167=)
c.210A>T (p.Thr70=)
c.77-4169A>T (n.77-4169A>T)
16g.51141721T>CCA495781479SALL1c.501A>G (p.Thr167=)
c.210A>G (p.Thr70=)
c.77-4169A>G (n.77-4169A>G)
 dbSNP gnomAD v2 gnomAD v4
16g.51141721T>GCA495781480SALL1c.501A>C (p.Thr167=)
c.210A>C (p.Thr70=)
c.77-4169A>C (n.77-4169A>C)
16g.51141721T=CA2222022747SALL1c.501A= (p.Thr167=)
c.210A= (p.Thr70=)
c.77-4169A= (n.77-4169A=)
16g.51141722G>ACA395891726SALL1c.500C>T (p.Thr167Ile)
c.209C>T (p.Thr70Ile)
c.77-4170C>T (n.77-4170C>T)
16g.51141722G>CCA395891727SALL1c.500C>G (p.Thr167Arg)
c.209C>G (p.Thr70Arg)
c.77-4170C>G (n.77-4170C>G)
16g.51141722G>TCA395891729SALL1c.500C>A (p.Thr167Lys)
c.209C>A (p.Thr70Lys)
c.77-4170C>A (n.77-4170C>A)
16g.51141723T>ACA395891730SALL1c.499A>T (p.Thr167Ser)
c.208A>T (p.Thr70Ser)
c.77-4171A>T (n.77-4171A>T)
16g.51141723T>CCA8053446SALL1c.499A>G (p.Thr167Ala)
c.208A>G (p.Thr70Ala)
c.77-4171A>G (n.77-4171A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51141723T>GCA395891733SALL1c.499A>C (p.Thr167Pro)
c.208A>C (p.Thr70Pro)
c.77-4171A>C (n.77-4171A>C)
 gnomAD v4
16g.51141723T=CA2222022751SALL1c.499A= (p.Thr167=)
c.208A= (p.Thr70=)
c.77-4171A= (n.77-4171A=)
16g.51141724G>ACA495781481SALL1c.498C>T (p.Ser166=)
c.207C>T (p.Ser69=)
c.77-4172C>T (n.77-4172C>T)
16g.51141724G>CCA495781482SALL1c.498C>G (p.Ser166=)
c.207C>G (p.Ser69=)
c.77-4172C>G (n.77-4172C>G)
16g.51141724G>TCA495781483SALL1c.498C>A (p.Ser166=)
c.207C>A (p.Ser69=)
c.77-4172C>A (n.77-4172C>A)
16g.51141725G>ACA395891734SALL1c.497C>T (p.Ser166Phe)
c.206C>T (p.Ser69Phe)
c.77-4173C>T (n.77-4173C>T)
16g.51141725G>CCA395891735SALL1c.497C>G (p.Ser166Cys)
c.206C>G (p.Ser69Cys)
c.77-4173C>G (n.77-4173C>G)
16g.51141725G>TCA395891736SALL1c.497C>A (p.Ser166Tyr)
c.206C>A (p.Ser69Tyr)
c.77-4173C>A (n.77-4173C>A)
16g.51141726A>CCA395891738SALL1c.496T>G (p.Ser166Ala)
c.205T>G (p.Ser69Ala)
c.77-4174T>G (n.77-4174T>G)
16g.51141726A>GCA395891739SALL1c.496T>C (p.Ser166Pro)
c.205T>C (p.Ser69Pro)
c.77-4174T>C (n.77-4174T>C)
 COSMIC
16g.51141726A>TCA395891737SALL1c.496T>A (p.Ser166Thr)
c.205T>A (p.Ser69Thr)
c.77-4174T>A (n.77-4174T>A)
16g.51141727G>ACA495781484SALL1c.495C>T (p.Ser165=)
c.204C>T (p.Ser68=)
c.77-4175C>T (n.77-4175C>T)
 gnomAD v4
16g.51141727G>CCA281303056SALL1c.495C>G (p.Ser165=)
c.204C>G (p.Ser68=)
c.77-4175C>G (n.77-4175C>G)
 dbSNP gnomAD v3 gnomAD v4
16g.51141727G=CA2222022757SALL1c.495C= (p.Ser165=)
c.204C= (p.Ser68=)
c.77-4175C= (n.77-4175C=)
16g.51141727G>TCA495781485SALL1c.495C>A (p.Ser165=)
c.204C>A (p.Ser68=)
c.77-4175C>A (n.77-4175C>A)
16g.51141728G>ACA8053447SALL1c.494C>T (p.Ser165Phe)
c.203C>T (p.Ser68Phe)
c.77-4176C>T (n.77-4176C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.51141728G>CCA395891741SALL1c.494C>G (p.Ser165Cys)
c.203C>G (p.Ser68Cys)
c.77-4176C>G (n.77-4176C>G)
16g.51141728G=CA2222022762SALL1c.494C= (p.Ser165=)
c.203C= (p.Ser68=)
c.77-4176C= (n.77-4176C=)
16g.51141728G>TCA395891743SALL1c.494C>A (p.Ser165Tyr)
c.203C>A (p.Ser68Tyr)
c.77-4176C>A (n.77-4176C>A)
16g.51141729A=CA2222022768SALL1c.493T= (p.Ser165=)
c.202T= (p.Ser68=)
c.77-4177T= (n.77-4177T=)
16g.51141729A>CCA395891744SALL1c.493T>G (p.Ser165Ala)
c.202T>G (p.Ser68Ala)
c.77-4177T>G (n.77-4177T>G)
16g.51141729A>GCA395891748SALL1c.493T>C (p.Ser165Pro)
c.202T>C (p.Ser68Pro)
c.77-4177T>C (n.77-4177T>C)
16g.51141729A>TCA395891754SALL1c.493T>A (p.Ser165Thr)
c.202T>A (p.Ser68Thr)
c.77-4177T>A (n.77-4177T>A)
16g.51141729_51141750delinsAGCTGCCGCCGCCGCCGCTGCTCA2222022772SALL1c.472_493delinsAGCAGCGGCGGCGGCGGCAGCT (p.Ser158=)
c.181_202delinsAGCAGCGGCGGCGGCGGCAGCT (p.Ser61=)
c.77-4198_77-4177delinsAGCAGCGGCGGCGGCGGCAGCT (n.77-4198_77-4177delinsAGCAGCGGCGGCGGCGGCAGCT)
16g.51141730G>ACA495781486SALL1c.492C>T (p.Ser164=)
c.201C>T (p.Ser67=)
c.77-4178C>T (n.77-4178C>T)
 gnomAD v4
16g.51141730G>CCA395891756SALL1c.492C>G (p.Ser164Arg)
c.201C>G (p.Ser67Arg)
c.77-4178C>G (n.77-4178C>G)
 gnomAD v4
16g.51141730G>TCA395891757SALL1c.492C>A (p.Ser164Arg)
c.201C>A (p.Ser67Arg)
c.77-4178C>A (n.77-4178C>A)
16g.51141732_51141734dupCA2575992067SALL1c.490_492dup (p.Ser164_Ser165insSer)
c.199_201dup (p.Ser67_Ser68insSer)
c.77-4180_77-4178dup (n.77-4180_77-4178dup)
 gnomAD v4
16g.51141732_51141737dupCA622654498SALL1c.487_492dup (p.Ser164_Ser165insGlySer)
c.196_201dup (p.Ser67_Ser68insGlySer)
c.77-4183_77-4178dup (n.77-4183_77-4178dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51141735_51141749dupCA2633181096SALL1c.478_492dup (p.Ser164_Ser165insGlyGlyGlyGlySer)
c.187_201dup (p.Ser67_Ser68insGlyGlyGlyGlySer)
c.77-4192_77-4178dup (n.77-4192_77-4178dup)
 gnomAD v4
16g.51141735_51141755delCA622654497SALL1c.472_492del (p.Ser158_Ser164del)
c.181_201del (p.Ser61_Ser67del)
c.77-4198_77-4178del (n.77-4198_77-4178del)
 dbSNP gnomAD v2 gnomAD v4
16g.51141731C>ACA395891759SALL1c.491G>T (p.Ser164Ile)
c.200G>T (p.Ser67Ile)
c.77-4179G>T (n.77-4179G>T)
16g.51141731C=CA2222022784SALL1c.491G= (p.Ser164=)
c.200G= (p.Ser67=)
c.77-4179G= (n.77-4179G=)
16g.51141731C>GCA395891760SALL1c.491G>C (p.Ser164Thr)
c.200G>C (p.Ser67Thr)
c.77-4179G>C (n.77-4179G>C)
 dbSNP gnomAD v3 gnomAD v4
16g.51141731C>TCA395891762SALL1c.491G>A (p.Ser164Asn)
c.200G>A (p.Ser67Asn)
c.77-4179G>A (n.77-4179G>A)
 dbSNP gnomAD v4
16g.51141732T>ACA395891764SALL1c.490A>T (p.Ser164Cys)
c.199A>T (p.Ser67Cys)
c.77-4180A>T (n.77-4180A>T)
16g.51141732T>CCA395891765SALL1c.490A>G (p.Ser164Gly)
c.199A>G (p.Ser67Gly)
c.77-4180A>G (n.77-4180A>G)
 gnomAD v4 COSMIC
16g.51141732T>GCA395891763SALL1c.490A>C (p.Ser164Arg)
c.199A>C (p.Ser67Arg)
c.77-4180A>C (n.77-4180A>C)
16g.51141732T=CA2222022786SALL1c.490A= (p.Ser164=)
c.199A= (p.Ser67=)
c.77-4180A= (n.77-4180A=)
16g.51141732_51141738delinsTGCCGCCCA2222022788SALL1c.484_490delinsGGCGGCA (p.Gly162=)
c.193_199delinsGGCGGCA (p.Gly65=)
c.77-4186_77-4180delinsGGCGGCA (n.77-4186_77-4180delinsGGCGGCA)
16g.51141733G>ACA495781487SALL1c.489C>T (p.Gly163=)
c.198C>T (p.Gly66=)
c.77-4181C>T (n.77-4181C>T)
16g.51141733G>CCA495781488SALL1c.489C>G (p.Gly163=)
c.198C>G (p.Gly66=)
c.77-4181C>G (n.77-4181C>G)
 dbSNP
16g.51141733G>TCA495781489SALL1c.489C>A (p.Gly163=)
c.198C>A (p.Gly66=)
c.77-4181C>A (n.77-4181C>A)
16g.51141734_51141735insTGCCGCCA2575992068SALL1c.489_490insGGCAGC (p.Gly163_Ser164insGlySer)
c.198_199insGGCAGC (p.Gly66_Ser67insGlySer)
c.77-4181_77-4180insGGCAGC (n.77-4181_77-4180insGGCAGC)
16g.51141734_51141735insTGCCGCCGCCA721394776SALL1c.489_490insGGCGGCAGC (p.Gly163_Ser164insGlyGlySer)
c.198_199insGGCGGCAGC (p.Gly66_Ser67insGlyGlySer)
c.77-4181_77-4180insGGCGGCAGC (n.77-4181_77-4180insGGCGGCAGC)
 dbSNP
16g.51141744_51141746dupCA8053448SALL1c.487_489dup (p.Gly163_Ser164insGly)
c.196_198dup (p.Gly66_Ser67insGly)
c.77-4183_77-4181dup (n.77-4183_77-4181dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51141741_51141746dupCA8053449SALL1c.484_489dup (p.Gly163_Ser164insGlyGly)
c.193_198dup (p.Gly66_Ser67insGlyGly)
c.77-4186_77-4181dup (n.77-4186_77-4181dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51141744_51141746delCA8053450SALL1c.487_489del (p.Gly163del)
c.196_198del (p.Gly66del)
c.77-4183_77-4181del (n.77-4183_77-4181del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.51141741_51141746delCA622654499SALL1c.484_489del (p.Gly162_Gly163del)
c.193_198del (p.Gly65_Gly66del)
c.77-4186_77-4181del (n.77-4186_77-4181del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.51141733_51141734insGCCCA645580661SALL1c.488_489insGGC (p.Gly163_Ser164insAla)
c.197_198insGGC (p.Gly66_Ser67insAla)
c.77-4182_77-4181insGGC (n.77-4182_77-4181insGGC)
 COSMIC
16g.51141734C>ACA395891770SALL1c.488G>T (p.Gly163Val)
c.197G>T (p.Gly66Val)
c.77-4182G>T (n.77-4182G>T)
 gnomAD v4
16g.51141734C>GCA395891771SALL1c.488G>C (p.Gly163Ala)
c.197G>C (p.Gly66Ala)
c.77-4182G>C (n.77-4182G>C)
16g.51141734C>TCA395891773SALL1c.488G>A (p.Gly163Asp)
c.197G>A (p.Gly66Asp)
c.77-4182G>A (n.77-4182G>A)
 gnomAD v4
16g.51141735C>ACA8053452SALL1c.487G>T (p.Gly163Cys)
c.196G>T (p.Gly66Cys)
c.77-4183G>T (n.77-4183G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.51141735C=CA2222022813SALL1c.487G= (p.Gly163=)
c.196G= (p.Gly66=)
c.77-4183G= (n.77-4183G=)
16g.51141735C>GCA395891777SALL1c.487G>C (p.Gly163Arg)
c.196G>C (p.Gly66Arg)
c.77-4183G>C (n.77-4183G>C)
16g.51141735C>TCA8053451SALL1c.487G>A (p.Gly163Ser)
c.196G>A (p.Gly66Ser)
c.77-4183G>A (n.77-4183G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched