Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.48792286_48792290dupCA1132960149GATA1c.350-37_350-33dup (n.350-37_350-33dup)
c.599-37_599-33dup (n.599-37_599-33dup)
 dbSNP gnomAD v3 gnomAD v4
Xg.48792283A>TCA2579636858GATA1c.350-40A>T (n.350-40A>T)
c.599-40A>T (n.599-40A>T)
Xg.48792284G>ACA2579636859GATA1c.350-39G>A (n.350-39G>A)
c.599-39G>A (n.599-39G>A)
 gnomAD v4
Xg.48792285C>GCA2579636860GATA1c.350-38C>G (n.350-38C>G)
c.599-38C>G (n.599-38C>G)
Xg.48792286T>CCA2693649557GATA1c.350-37T>C (n.350-37T>C)
c.599-37T>C (n.599-37T>C)
 gnomAD v4
Xg.48792286T>GCA10404634GATA1c.350-37T>G (n.350-37T>G)
c.599-37T>G (n.599-37T>G)
 dbSNP ExAC gnomAD v2
Xg.48792286T=CA2428390620GATA1c.350-37T= (n.350-37T=)
c.599-37T= (n.599-37T=)
Xg.48792287G>TCA2693649558GATA1c.350-36G>T (n.350-36G>T)
c.599-36G>T (n.599-36G>T)
 gnomAD v4
Xg.48792289G=CA2428390621GATA1c.350-34G= (n.350-34G=)
c.599-34G= (n.599-34G=)
Xg.48792289G>TCA2428390622GATA1c.350-34G>T (n.350-34G>T)
c.599-34G>T (n.599-34G>T)
 dbSNP
Xg.48792290_48792293dupCA641901872GATA1c.350-33_350-30dup (n.350-33_350-30dup)
c.599-33_599-30dup (n.599-33_599-30dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48792292T>CCA10404635GATA1c.350-31T>C (n.350-31T>C)
c.599-31T>C (n.599-31T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48792292T=CA2428390623GATA1c.350-31T= (n.350-31T=)
c.599-31T= (n.599-31T=)
Xg.48792293A>CCA2693649559GATA1c.350-30A>C (n.350-30A>C)
c.599-30A>C (n.599-30A>C)
 gnomAD v4
Xg.48792294G>ACA641901873GATA1c.350-29G>A (n.350-29G>A)
c.599-29G>A (n.599-29G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.48792294G=CA2428390624GATA1c.350-29G= (n.350-29G=)
c.599-29G= (n.599-29G=)
Xg.48792297C>TCA2693649560GATA1c.350-26C>T (n.350-26C>T)
c.599-26C>T (n.599-26C>T)
 gnomAD v4
Xg.48792298C=CA2428390625GATA1c.350-25C= (n.350-25C=)
c.599-25C= (n.599-25C=)
Xg.48792298C>TCA10404636GATA1c.350-25C>T (n.350-25C>T)
c.599-25C>T (n.599-25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48792299C>TCA2693649561GATA1c.350-24C>T (n.350-24C>T)
c.599-24C>T (n.599-24C>T)
 gnomAD v4
Xg.48792300T>CCA2579636861GATA1c.350-23T>C (n.350-23T>C)
c.599-23T>C (n.599-23T>C)
Xg.48792301C>ACA10404637GATA1c.350-22C>A (n.350-22C>A)
c.599-22C>A (n.599-22C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48792301C=CA2428390626GATA1c.350-22C= (n.350-22C=)
c.599-22C= (n.599-22C=)
Xg.48792302T=CA2428390627GATA1c.350-21T= (n.350-21T=)
c.599-21T= (n.599-21T=)
Xg.48792303_48792306delinsTCTCCA2428390628GATA1c.350-20_350-17delinsTCTC (n.350-20_350-17delinsTCTC)
c.599-20_599-17delinsTCTC (n.599-20_599-17delinsTCTC)
Xg.48792308_48792312dupCA10404638GATA1c.350-15_350-11dup (n.350-15_350-11dup)
c.599-15_599-11dup (n.599-15_599-11dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48792307_48792309delCA10404639GATA1c.350-16_350-14del (n.350-16_350-14del)
c.599-16_599-14del (n.599-16_599-14del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48792306C=CA2428390629GATA1c.350-17C= (n.350-17C=)
c.599-17C= (n.599-17C=)
Xg.48792306C>GCA2428390630GATA1c.350-17C>G (n.350-17C>G)
c.599-17C>G (n.599-17C>G)
 dbSNP
Xg.48792309C=CA2428390631GATA1c.350-14C= (n.350-14C=)
c.599-14C= (n.599-14C=)
Xg.48792309C>TCA641901874GATA1c.350-14C>T (n.350-14C>T)
c.599-14C>T (n.599-14C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.48792309_48792310insCGCA2428390632GATA1c.350-14_350-13insCG (n.350-14_350-13insCG)
c.599-14_599-13insCG (n.599-14_599-13insCG)
 dbSNP
Xg.48792310T>CCA1132960155GATA1c.350-13T>C (n.350-13T>C)
c.599-13T>C (n.599-13T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48792310T=CA2428390633GATA1c.350-13T= (n.350-13T=)
c.599-13T= (n.599-13T=)
Xg.48792311C>TCA2579636862GATA1c.350-12C>T (n.350-12C>T)
c.599-12C>T (n.599-12C>T)
Xg.48792313A=CA2428390634GATA1c.350-10A= (n.350-10A=)
c.599-10A= (n.599-10A=)
Xg.48792313A>CCA2738364357GATA1c.350-10A>C (n.350-10A>C)
c.599-10A>C (n.599-10A>C)
 dbSNP
Xg.48792313A>GCA10404640GATA1c.350-10A>G (n.350-10A>G)
c.599-10A>G (n.599-10A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48792314C=CA2428390635GATA1c.350-9C= (n.350-9C=)
c.599-9C= (n.599-9C=)
Xg.48792314C>TCA641901875GATA1c.350-9C>T (n.350-9C>T)
c.599-9C>T (n.599-9C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48792315C>TCA2820814272GATA1c.350-8C>T (n.350-8C>T)
c.599-8C>T (n.599-8C>T)
Xg.48792318A>CCA2738506122GATA1c.350-5A>C (n.350-5A>C)
c.599-5A>C (n.599-5A>C)
 dbSNP
Xg.48792319C>TCA2693649562GATA1c.350-4C>T (n.350-4C>T)
c.599-4C>T (n.599-4C>T)
 gnomAD v4
Xg.48792321A>CCA412870307GATA1c.350-2A>C (n.350-2A>C)
c.599-2A>C (n.599-2A>C)
Xg.48792321A>GCA412870301GATA1c.350-2A>G (n.350-2A>G)
c.599-2A>G (n.599-2A>G)
Xg.48792321A>TCA412870297GATA1c.350-2A>T (n.350-2A>T)
c.599-2A>T (n.599-2A>T)
Xg.48792322G>ACA412870311GATA1c.350-1G>A (n.350-1G>A)
c.599-1G>A (n.599-1G>A)
Xg.48792322G>CCA412870317GATA1c.350-1G>C (n.350-1G>C)
c.599-1G>C (n.599-1G>C)
Xg.48792322G>TCA412870321GATA1c.350-1G>T (n.350-1G>T)
c.599-1G>T (n.599-1G>T)
Xg.48792323A=CA2428390636GATA1c.350A= (p.Glu117=)
c.599A= (p.Glu200=)
Xg.48792323A>CCA412870325GATA1c.350A>C (p.Glu117Ala)
c.599A>C (p.Glu200Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48792323A>GCA412870327GATA1c.350A>G (p.Glu117Gly)
c.599A>G (p.Glu200Gly)
 gnomAD v3 gnomAD v4
Xg.48792323A>TCA412870330GATA1c.350A>T (p.Glu117Val)
c.599A>T (p.Glu200Val)
Xg.48792324G>ACA10404641GATA1c.351G>A (p.Glu117=)
c.600G>A (p.Glu200=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48792324G>CCA412870341GATA1c.351G>C (p.Glu117Asp)
c.600G>C (p.Glu200Asp)
Xg.48792324G=CA2428390637GATA1c.351G= (p.Glu117=)
c.600G= (p.Glu200=)
Xg.48792324G>TCA412870337GATA1c.351G>T (p.Glu117Asp)
c.600G>T (p.Glu200Asp)
 dbSNP
Xg.48792325G>ACA412870346GATA1c.352G>A (p.Ala118Thr)
c.601G>A (p.Ala201Thr)
Xg.48792325G>CCA412870347GATA1c.352G>C (p.Ala118Pro)
c.601G>C (p.Ala201Pro)
Xg.48792325G>TCA412870348GATA1c.352G>T (p.Ala118Ser)
c.601G>T (p.Ala201Ser)
Xg.48792326C>ACA412870353GATA1c.353C>A (p.Ala118Asp)
c.602C>A (p.Ala201Asp)
Xg.48792326C>GCA412870354GATA1c.353C>G (p.Ala118Gly)
c.602C>G (p.Ala201Gly)
Xg.48792326C>TCA412870356GATA1c.353C>T (p.Ala118Val)
c.602C>T (p.Ala201Val)
Xg.48792327C>ACA516357488GATA1c.354C>A (p.Ala118=)
c.603C>A (p.Ala201=)
 dbSNP
Xg.48792327C=CA2428390638GATA1c.354C= (p.Ala118=)
c.603C= (p.Ala201=)
Xg.48792327C>GCA10404642GATA1c.354C>G (p.Ala118=)
c.603C>G (p.Ala201=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48792327C>TCA516357490GATA1c.354C>T (p.Ala118=)
c.603C>T (p.Ala201=)
Xg.48792328A>CCA516357491GATA1c.355A>C (p.Arg119=)
c.604A>C (p.Arg202=)
Xg.48792328A>GCA412870366GATA1c.355A>G (p.Arg119Gly)
c.604A>G (p.Arg202Gly)
Xg.48792328A>TCA412870369GATA1c.355A>T (p.Arg119Trp)
c.604A>T (p.Arg202Trp)
Xg.48792329G>ACA412870374GATA1c.356G>A (p.Arg119Lys)
c.605G>A (p.Arg202Lys)
 gnomAD v4
Xg.48792329G>CCA412870376GATA1c.356G>C (p.Arg119Thr)
c.605G>C (p.Arg202Thr)
Xg.48792329G>TCA412870379GATA1c.356G>T (p.Arg119Met)
c.605G>T (p.Arg202Met)
 COSMIC COSMIC
Xg.48792330G>ACA516357499GATA1c.357G>A (p.Arg119=)
c.606G>A (p.Arg202=)
Xg.48792330G>CCA412870382GATA1c.357G>C (p.Arg119Ser)
c.606G>C (p.Arg202Ser)
Xg.48792330G>TCA412870386GATA1c.357G>T (p.Arg119Ser)
c.606G>T (p.Arg202Ser)
Xg.48792331G>ACA412870389GATA1c.358G>A (p.Glu120Lys)
c.607G>A (p.Glu203Lys)
 dbSNP
Xg.48792331G>CCA412870390GATA1c.358G>C (p.Glu120Gln)
c.607G>C (p.Glu203Gln)
Xg.48792331G=CA2428390639GATA1c.358G= (p.Glu120=)
c.607G= (p.Glu203=)
Xg.48792331G>TCA412870391GATA1c.358G>T (p.Glu120Ter)
c.607G>T (p.Glu203Ter)
Xg.48792332A>CCA412870392GATA1c.359A>C (p.Glu120Ala)
c.608A>C (p.Glu203Ala)
 COSMIC COSMIC
Xg.48792332A>GCA412870393GATA1c.359A>G (p.Glu120Gly)
c.608A>G (p.Glu203Gly)
Xg.48792332A>TCA412870397GATA1c.359A>T (p.Glu120Val)
c.608A>T (p.Glu203Val)
Xg.48792333G>ACA516357505GATA1c.360G>A (p.Glu120=)
c.609G>A (p.Glu203=)
 dbSNP
Xg.48792333G>CCA412870406GATA1c.360G>C (p.Glu120Asp)
c.609G>C (p.Glu203Asp)
Xg.48792333G=CA2428390640GATA1c.360G= (p.Glu120=)
c.609G= (p.Glu203=)
Xg.48792333G>TCA412870407GATA1c.360G>T (p.Glu120Asp)
c.609G>T (p.Glu203Asp)
Xg.48792334T>ACA412870410GATA1c.361T>A (p.Cys121Ser)
c.610T>A (p.Cys204Ser)
Xg.48792334T>CCA412870414GATA1c.361T>C (p.Cys121Arg)
c.610T>C (p.Cys204Arg)
Xg.48792334T>GCA412870417GATA1c.361T>G (p.Cys121Gly)
c.610T>G (p.Cys204Gly)
Xg.48792335G>ACA412870420GATA1c.362G>A (p.Cys121Tyr)
c.611G>A (p.Cys204Tyr)
Xg.48792335G>CCA412870424GATA1c.362G>C (p.Cys121Ser)
c.611G>C (p.Cys204Ser)
Xg.48792335G>TCA412870426GATA1c.362G>T (p.Cys121Phe)
c.611G>T (p.Cys204Phe)
Xg.48792336T>ACA412870433GATA1c.363T>A (p.Cys121Ter)
c.612T>A (p.Cys204Ter)
Xg.48792336T>CCA516357511GATA1c.363T>C (p.Cys121=)
c.612T>C (p.Cys204=)
Xg.48792336T>GCA412870430GATA1c.363T>G (p.Cys121Trp)
c.612T>G (p.Cys204Trp)
Xg.48792337G>ACA121062GATA1c.364G>A (p.Val122Met)
c.613G>A (p.Val205Met)
 ClinVar dbSNP
Xg.48792337G>CCA412870440GATA1c.364G>C (p.Val122Leu)
c.613G>C (p.Val205Leu)
Xg.48792337G=CA2428390641GATA1c.364G= (p.Val122=)
c.613G= (p.Val205=)
Xg.48792337G>TCA412870443GATA1c.364G>T (p.Val122Leu)
c.613G>T (p.Val205Leu)
Xg.48792338T>ACA412870447GATA1c.365T>A (p.Val122Glu)
c.614T>A (p.Val205Glu)
Xg.48792338T>CCA412870452GATA1c.365T>C (p.Val122Ala)
c.614T>C (p.Val205Ala)
 gnomAD v4
Xg.48792338T>GCA412870455GATA1c.365T>G (p.Val122Gly)
c.614T>G (p.Val205Gly)
Xg.48792339G>ACA516357518GATA1c.366G>A (p.Val122=)
c.615G>A (p.Val205=)
 dbSNP
Xg.48792339G>CCA516357519GATA1c.366G>C (p.Val122=)
c.615G>C (p.Val205=)
Xg.48792339G=CA2428390642GATA1c.366G= (p.Val122=)
c.615G= (p.Val205=)
Xg.48792339G>TCA516357521GATA1c.366G>T (p.Val122=)
c.615G>T (p.Val205=)
Xg.48792340A>CCA412870462GATA1c.367A>C (p.Asn123His)
c.616A>C (p.Asn206His)
Xg.48792340A>GCA412870458GATA1c.367A>G (p.Asn123Asp)
c.616A>G (p.Asn206Asp)
Xg.48792340A>TCA412870461GATA1c.367A>T (p.Asn123Tyr)
c.616A>T (p.Asn206Tyr)
Xg.48792341A>CCA412870464GATA1c.368A>C (p.Asn123Thr)
c.617A>C (p.Asn206Thr)
Xg.48792341A>GCA412870466GATA1c.368A>G (p.Asn123Ser)
c.617A>G (p.Asn206Ser)
Xg.48792341A>TCA412870469GATA1c.368A>T (p.Asn123Ile)
c.617A>T (p.Asn206Ile)
Xg.48792342C>ACA412870470GATA1c.369C>A (p.Asn123Lys)
c.618C>A (p.Asn206Lys)
 ClinVar
Xg.48792342C>GCA412870473GATA1c.369C>G (p.Asn123Lys)
c.618C>G (p.Asn206Lys)
Xg.48792342C>TCA516357535GATA1c.369C>T (p.Asn123=)
c.618C>T (p.Asn206=)
Xg.48792343T>ACA412870484GATA1c.370T>A (p.Cys124Ser)
c.619T>A (p.Cys207Ser)
Xg.48792343T>CCA412870476GATA1c.370T>C (p.Cys124Arg)
c.619T>C (p.Cys207Arg)
Xg.48792343T>GCA412870480GATA1c.370T>G (p.Cys124Gly)
c.619T>G (p.Cys207Gly)
Xg.48792344G>ACA412870491GATA1c.371G>A (p.Cys124Tyr)
c.620G>A (p.Cys207Tyr)
 dbSNP
Xg.48792344G>CCA412870492GATA1c.371G>C (p.Cys124Ser)
c.620G>C (p.Cys207Ser)
Xg.48792344G=CA2428390643GATA1c.371G= (p.Cys124=)
c.620G= (p.Cys207=)
Xg.48792344G>TCA412870495GATA1c.371G>T (p.Cys124Phe)
c.620G>T (p.Cys207Phe)
Xg.48792345C>ACA412870497GATA1c.372C>A (p.Cys124Ter)
c.621C>A (p.Cys207Ter)
Xg.48792345C=CA2428390644GATA1c.372C= (p.Cys124=)
c.621C= (p.Cys207=)
Xg.48792345C>GCA412870498GATA1c.372C>G (p.Cys124Trp)
c.621C>G (p.Cys207Trp)
Xg.48792345C>TCA10404643GATA1c.372C>T (p.Cys124=)
c.621C>T (p.Cys207=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48792346G>ACA16043250GATA1c.373G>A (p.Gly125Arg)
c.622G>A (p.Gly208Arg)
 ClinVar dbSNP
Xg.48792346G>CCA345942GATA1c.373G>C (p.Gly125Arg)
c.622G>C (p.Gly208Arg)
 ClinVar dbSNP
Xg.48792346G=CA2428390646GATA1c.373G= (p.Gly125=)
c.622G= (p.Gly208=)
Xg.48792346G>TCA412870503GATA1c.373G>T (p.Gly125Ter)
c.622G>T (p.Gly208Ter)
Xg.48792346_48792347delinsGGCA2428390645GATA1c.373_374delinsGG (p.Gly125=)
c.622_623delinsGG (p.Gly208=)
Xg.48792346_48792347delinsTCCA121066GATA1c.373_374delinsTC (p.Gly125Ser)
c.622_623delinsTC (p.Gly208Ser)
 ClinVar dbSNP
Xg.48792347G>ACA412870511GATA1c.374G>A (p.Gly125Glu)
c.623G>A (p.Gly208Glu)
 dbSNP
Xg.48792347G>CCA412870518GATA1c.374G>C (p.Gly125Ala)
c.623G>C (p.Gly208Ala)
 ClinVar
Xg.48792347G=CA2428390647GATA1c.374G= (p.Gly125=)
c.623G= (p.Gly208=)
Xg.48792347G>TCA412870520GATA1c.374G>T (p.Gly125Val)
c.623G>T (p.Gly208Val)
Xg.48792348A=CA2428390648GATA1c.375A= (p.Gly125=)
c.624A= (p.Gly208=)
Xg.48792348A>CCA516357557GATA1c.375A>C (p.Gly125=)
c.624A>C (p.Gly208=)
Xg.48792348A>GCA10404644GATA1c.375A>G (p.Gly125=)
c.624A>G (p.Gly208=)
 dbSNP ExAC gnomAD v4
Xg.48792348A>TCA516357562GATA1c.375A>T (p.Gly125=)
c.624A>T (p.Gly208=)
Xg.48792349G>ACA412870530GATA1c.376G>A (p.Ala126Thr)
c.625G>A (p.Ala209Thr)
 dbSNP
Xg.48792349G>CCA412870528GATA1c.376G>C (p.Ala126Pro)
c.625G>C (p.Ala209Pro)
Xg.48792349G=CA2428390649GATA1c.376G= (p.Ala126=)
c.625G= (p.Ala209=)
Xg.48792349G>TCA412870529GATA1c.376G>T (p.Ala126Ser)
c.625G>T (p.Ala209Ser)
Xg.48792350C>ACA412870531GATA1c.377C>A (p.Ala126Glu)
c.626C>A (p.Ala209Glu)
Xg.48792350C>GCA412870532GATA1c.377C>G (p.Ala126Gly)
c.626C>G (p.Ala209Gly)
Xg.48792350C>TCA412870534GATA1c.377C>T (p.Ala126Val)
c.626C>T (p.Ala209Val)
Xg.48792351A>CCA516357567GATA1c.378A>C (p.Ala126=)
c.627A>C (p.Ala209=)
Xg.48792351A>GCA516357568GATA1c.378A>G (p.Ala126=)
c.627A>G (p.Ala209=)
Xg.48792351A>TCA516357571GATA1c.378A>T (p.Ala126=)
c.627A>T (p.Ala209=)
Xg.48792352dupCA2579636863GATA1c.379dup (p.Thr127AsnfsTer?)
c.628dup (p.Thr210AsnfsTer?)
Xg.48792352A=CA2428390650GATA1c.379A= (p.Thr127=)
c.628A= (p.Thr210=)
Xg.48792352A>CCA10404645GATA1c.379A>C (p.Thr127Pro)
c.628A>C (p.Thr210Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48792352A>GCA412870549GATA1c.379A>G (p.Thr127Ala)
c.628A>G (p.Thr210Ala)
Xg.48792352A>TCA412870551GATA1c.379A>T (p.Thr127Ser)
c.628A>T (p.Thr210Ser)
Xg.48792353C>ACA412870552GATA1c.380C>A (p.Thr127Lys)
c.629C>A (p.Thr210Lys)
Xg.48792353C>GCA412870554GATA1c.380C>G (p.Thr127Arg)
c.629C>G (p.Thr210Arg)
Xg.48792353C>TCA412870555GATA1c.380C>T (p.Thr127Ile)
c.629C>T (p.Thr210Ile)
Xg.48792353dupCA2428390651GATA1c.380dup (p.Ala128SerfsTer?)
c.629dup (p.Ala211SerfsTer?)
 dbSNP
Xg.48792354A>CCA516357595GATA1c.381A>C (p.Thr127=)
c.630A>C (p.Thr210=)
Xg.48792354A>GCA516357597GATA1c.381A>G (p.Thr127=)
c.630A>G (p.Thr210=)
Xg.48792354A>TCA516357599GATA1c.381A>T (p.Thr127=)
c.630A>T (p.Thr210=)
Xg.48792355G>ACA412870556GATA1c.382G>A (p.Ala128Thr)
c.631G>A (p.Ala211Thr)
Xg.48792355G>CCA412870558GATA1c.382G>C (p.Ala128Pro)
c.631G>C (p.Ala211Pro)
Xg.48792355G>TCA412870561GATA1c.382G>T (p.Ala128Ser)
c.631G>T (p.Ala211Ser)
Xg.48792356C>ACA412870566GATA1c.383C>A (p.Ala128Asp)
c.632C>A (p.Ala211Asp)
Xg.48792356C>GCA412870564GATA1c.383C>G (p.Ala128Gly)
c.632C>G (p.Ala211Gly)
Xg.48792356C>TCA412870565GATA1c.383C>T (p.Ala128Val)
c.632C>T (p.Ala211Val)
Xg.48792357C>ACA516357613GATA1c.384C>A (p.Ala128=)
c.633C>A (p.Ala211=)
Xg.48792357C>GCA516357612GATA1c.384C>G (p.Ala128=)
c.633C>G (p.Ala211=)
Xg.48792357C>TCA516357610GATA1c.384C>T (p.Ala128=)
c.633C>T (p.Ala211=)
Xg.48792358A>CCA412870569GATA1c.385A>C (p.Thr129Pro)
c.634A>C (p.Thr212Pro)
Xg.48792358A>GCA412870573GATA1c.385A>G (p.Thr129Ala)
c.634A>G (p.Thr212Ala)
Xg.48792358A>TCA412870572GATA1c.385A>T (p.Thr129Ser)
c.634A>T (p.Thr212Ser)
Xg.48792359C>ACA412870574GATA1c.386C>A (p.Thr129Asn)
c.635C>A (p.Thr212Asn)
Xg.48792359C>GCA412870576GATA1c.386C>G (p.Thr129Ser)
c.635C>G (p.Thr212Ser)
Xg.48792359C>TCA412870578GATA1c.386C>T (p.Thr129Ile)
c.635C>T (p.Thr212Ile)
Xg.48792360T>ACA516357629GATA1c.387T>A (p.Thr129=)
c.636T>A (p.Thr212=)
Xg.48792360T>CCA516357622GATA1c.387T>C (p.Thr129=)
c.636T>C (p.Thr212=)
Xg.48792360T>GCA516357619GATA1c.387T>G (p.Thr129=)
c.636T>G (p.Thr212=)
Xg.48792361C>ACA412870581GATA1c.388C>A (p.Pro130Thr)
c.637C>A (p.Pro213Thr)
Xg.48792361C>GCA412870583GATA1c.388C>G (p.Pro130Ala)
c.637C>G (p.Pro213Ala)
Xg.48792361C>TCA412870585GATA1c.388C>T (p.Pro130Ser)
c.637C>T (p.Pro213Ser)
 gnomAD v4
Xg.48792362C>ACA412870588GATA1c.389C>A (p.Pro130Gln)
c.638C>A (p.Pro213Gln)
Xg.48792362C>GCA412870592GATA1c.389C>G (p.Pro130Arg)
c.638C>G (p.Pro213Arg)
Xg.48792362C>TCA412870594GATA1c.389C>T (p.Pro130Leu)
c.638C>T (p.Pro213Leu)
Xg.48792363A>CCA516357634GATA1c.390A>C (p.Pro130=)
c.639A>C (p.Pro213=)
 gnomAD v4
Xg.48792363A>GCA516357637GATA1c.390A>G (p.Pro130=)
c.639A>G (p.Pro213=)
Xg.48792363A>TCA516357636GATA1c.390A>T (p.Pro130=)
c.639A>T (p.Pro213=)
Xg.48792364C>ACA412870596GATA1c.391C>A (p.Leu131Met)
c.640C>A (p.Leu214Met)
Xg.48792364C>GCA412870598GATA1c.391C>G (p.Leu131Val)
c.640C>G (p.Leu214Val)
Xg.48792364C>TCA516357639GATA1c.391C>T (p.Leu131=)
c.640C>T (p.Leu214=)
 dbSNP
Xg.48792365T>ACA412870605GATA1c.392T>A (p.Leu131Gln)
c.641T>A (p.Leu214Gln)
Xg.48792365T>CCA412870601GATA1c.392T>C (p.Leu131Pro)
c.641T>C (p.Leu214Pro)
Xg.48792365T>GCA412870603GATA1c.392T>G (p.Leu131Arg)
c.641T>G (p.Leu214Arg)
Xg.48792366G>ACA516357643GATA1c.393G>A (p.Leu131=)
c.642G>A (p.Leu214=)
Xg.48792366G>CCA516357644GATA1c.393G>C (p.Leu131=)
c.642G>C (p.Leu214=)
Xg.48792366G>TCA516357646GATA1c.393G>T (p.Leu131=)
c.642G>T (p.Leu214=)
Xg.48792367T>ACA412870608GATA1c.394T>A (p.Trp132Arg)
c.643T>A (p.Trp215Arg)
Xg.48792367T>CCA412870610GATA1c.394T>C (p.Trp132Arg)
c.643T>C (p.Trp215Arg)
Xg.48792367T>GCA412870613GATA1c.394T>G (p.Trp132Gly)
c.643T>G (p.Trp215Gly)
Xg.48792368G>ACA412870615GATA1c.395G>A (p.Trp132Ter)
c.644G>A (p.Trp215Ter)
Xg.48792368G>CCA412870617GATA1c.395G>C (p.Trp132Ser)
c.644G>C (p.Trp215Ser)
Xg.48792368G>TCA412870619GATA1c.395G>T (p.Trp132Leu)
c.644G>T (p.Trp215Leu)
Xg.48792369G>ACA412870623GATA1c.396G>A (p.Trp132Ter)
c.645G>A (p.Trp215Ter)
Xg.48792369G>CCA412870625GATA1c.396G>C (p.Trp132Cys)
c.645G>C (p.Trp215Cys)
Xg.48792369G>TCA412870627GATA1c.396G>T (p.Trp132Cys)
c.645G>T (p.Trp215Cys)
Xg.48792370C>ACA516357664GATA1c.397C>A (p.Arg133=)
c.646C>A (p.Arg216=)
Xg.48792370C=CA2428390652GATA1c.397C= (p.Arg133=)
c.646C= (p.Arg216=)
Xg.48792370C>GCA412870630GATA1c.397C>G (p.Arg133Gly)
c.646C>G (p.Arg216Gly)
Xg.48792370C>TCA342811GATA1c.397C>T (p.Arg133Trp)
c.646C>T (p.Arg216Trp)
 ClinVar dbSNP
Xg.48792371G>ACA340965GATA1c.398G>A (p.Arg133Gln)
c.647G>A (p.Arg216Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.48792371G>CCA412870638GATA1c.398G>C (p.Arg133Pro)
c.647G>C (p.Arg216Pro)
Xg.48792371G=CA2428390653GATA1c.398G= (p.Arg133=)
c.647G= (p.Arg216=)
Xg.48792371G>TCA412870635GATA1c.398G>T (p.Arg133Leu)
c.647G>T (p.Arg216Leu)
Xg.48792372G>ACA516357666GATA1c.399G>A (p.Arg133=)
c.648G>A (p.Arg216=)
Xg.48792372G>CCA516357667GATA1c.399G>C (p.Arg133=)
c.648G>C (p.Arg216=)
Xg.48792372G>TCA516357668GATA1c.399G>T (p.Arg133=)
c.648G>T (p.Arg216=)
Xg.48792373A>CCA516357672GATA1c.400A>C (p.Arg134=)
c.649A>C (p.Arg217=)
Xg.48792373A>GCA412870643GATA1c.400A>G (p.Arg134Gly)
c.649A>G (p.Arg217Gly)
Xg.48792373A>TCA412870642GATA1c.400A>T (p.Arg134Trp)
c.649A>T (p.Arg217Trp)
Xg.48792374G>ACA329106871GATA1c.401G>A (p.Arg134Lys)
c.650G>A (p.Arg217Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48792374G>CCA412870649GATA1c.401G>C (p.Arg134Thr)
c.650G>C (p.Arg217Thr)
 ClinVar dbSNP
Xg.48792374G=CA2428390654GATA1c.401G= (p.Arg134=)
c.650G= (p.Arg217=)
Xg.48792374G>TCA412870651GATA1c.401G>T (p.Arg134Met)
c.650G>T (p.Arg217Met)
Xg.48792375G>ACA516357676GATA1c.402G>A (p.Arg134=)
c.651G>A (p.Arg217=)
 gnomAD v4
Xg.48792375G>CCA412870653GATA1c.402G>C (p.Arg134Ser)
c.651G>C (p.Arg217Ser)
Xg.48792375G>TCA412870655GATA1c.402G>T (p.Arg134Ser)
c.651G>T (p.Arg217Ser)
Xg.48792376G>ACA412870656GATA1c.403G>A (p.Asp135Asn)
c.652G>A (p.Asp218Asn)
 ClinVar dbSNP
Xg.48792376G>CCA412870657GATA1c.403G>C (p.Asp135His)
c.652G>C (p.Asp218His)
Xg.48792376G=CA2428390655GATA1c.403G= (p.Asp135=)
c.652G= (p.Asp218=)
Xg.48792376G>TCA121069GATA1c.403G>T (p.Asp135Tyr)
c.652G>T (p.Asp218Tyr)
 ClinVar dbSNP
Xg.48792377A=CA2428390656GATA1c.404A= (p.Asp135=)
c.653A= (p.Asp218=)
Xg.48792377A>CCA412870659GATA1c.404A>C (p.Asp135Ala)
c.653A>C (p.Asp218Ala)
Xg.48792377A>GCA121064GATA1c.404A>G (p.Asp135Gly)
c.653A>G (p.Asp218Gly)
 ClinVar dbSNP
Xg.48792377A>TCA412870662GATA1c.404A>T (p.Asp135Val)
c.653A>T (p.Asp218Val)
Xg.48792378C>ACA412870669GATA1c.405C>A (p.Asp135Glu)
c.654C>A (p.Asp218Glu)
Xg.48792378C>GCA412870671GATA1c.405C>G (p.Asp135Glu)
c.654C>G (p.Asp218Glu)
Xg.48792378C>TCA516357679GATA1c.405C>T (p.Asp135=)
c.654C>T (p.Asp218=)
Xg.48792379A>CCA516357690GATA1c.406A>C (p.Arg136=)
c.655A>C (p.Arg219=)
Xg.48792379A>GCA412870674GATA1c.406A>G (p.Arg136Gly)
c.655A>G (p.Arg219Gly)
Xg.48792379A>TCA412870675GATA1c.406A>T (p.Arg136Trp)
c.655A>T (p.Arg219Trp)
Xg.48792380G>ACA412870679GATA1c.407G>A (p.Arg136Lys)
c.656G>A (p.Arg219Lys)
Xg.48792380G>CCA412870686GATA1c.407G>C (p.Arg136Thr)
c.656G>C (p.Arg219Thr)
Xg.48792380G>TCA412870688GATA1c.407G>T (p.Arg136Met)
c.656G>T (p.Arg219Met)
Xg.48792381G>ACA516357695GATA1c.408G>A (p.Arg136=)
c.657G>A (p.Arg219=)
Xg.48792381G>CCA412870692GATA1c.408G>C (p.Arg136Ser)
c.657G>C (p.Arg219Ser)
Xg.48792381G>TCA412870694GATA1c.408G>T (p.Arg136Ser)
c.657G>T (p.Arg219Ser)

Number of alleles fetched