Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.48792286_48792290dup | CA1132960149 | GATA1 | c.350-37_350-33dup (n.350-37_350-33dup) c.599-37_599-33dup (n.599-37_599-33dup) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48792286T>C | CA2693649557 | GATA1 | c.350-37T>C (n.350-37T>C) c.599-37T>C (n.599-37T>C) | gnomAD v4 |
X | g.48792286T>G | CA10404634 | GATA1 | c.350-37T>G (n.350-37T>G) c.599-37T>G (n.599-37T>G) | dbSNP ExAC gnomAD v2 |
X | g.48792286T= | CA2428390620 | GATA1 | c.350-37T= (n.350-37T=) c.599-37T= (n.599-37T=) | |
X | g.48792287G>T | CA2693649558 | GATA1 | c.350-36G>T (n.350-36G>T) c.599-36G>T (n.599-36G>T) | gnomAD v4 |
X | g.48792289G= | CA2428390621 | GATA1 | c.350-34G= (n.350-34G=) c.599-34G= (n.599-34G=) | |
X | g.48792289G>T | CA2428390622 | GATA1 | c.350-34G>T (n.350-34G>T) c.599-34G>T (n.599-34G>T) | dbSNP |
X | g.48792290_48792293dup | CA641901872 | GATA1 | c.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 |
X | g.48792292T>C | CA10404635 | GATA1 | c.350-31T>C (n.350-31T>C) c.599-31T>C (n.599-31T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48792292T= | CA2428390623 | GATA1 | c.350-31T= (n.350-31T=) c.599-31T= (n.599-31T=) | |
X | g.48792293A>C | CA2693649559 | GATA1 | c.350-30A>C (n.350-30A>C) c.599-30A>C (n.599-30A>C) | gnomAD v4 |
X | g.48792294G>A | CA641901873 | GATA1 | c.350-29G>A (n.350-29G>A) c.599-29G>A (n.599-29G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48792294G= | CA2428390624 | GATA1 | c.350-29G= (n.350-29G=) c.599-29G= (n.599-29G=) | |
X | g.48792297C>T | CA2693649560 | GATA1 | c.350-26C>T (n.350-26C>T) c.599-26C>T (n.599-26C>T) | gnomAD v4 |
X | g.48792298C= | CA2428390625 | GATA1 | c.350-25C= (n.350-25C=) c.599-25C= (n.599-25C=) | |
X | g.48792298C>T | CA10404636 | GATA1 | c.350-25C>T (n.350-25C>T) c.599-25C>T (n.599-25C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48792299C>T | CA2693649561 | GATA1 | c.350-24C>T (n.350-24C>T) c.599-24C>T (n.599-24C>T) | gnomAD v4 |
X | g.48792300T>C | CA2579636861 | GATA1 | c.350-23T>C (n.350-23T>C) c.599-23T>C (n.599-23T>C) | |
X | g.48792301C>A | CA10404637 | GATA1 | c.350-22C>A (n.350-22C>A) c.599-22C>A (n.599-22C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48792301C= | CA2428390626 | GATA1 | c.350-22C= (n.350-22C=) c.599-22C= (n.599-22C=) | |
X | g.48792302T= | CA2428390627 | GATA1 | c.350-21T= (n.350-21T=) c.599-21T= (n.599-21T=) | |
X | g.48792303_48792306delinsTCTC | CA2428390628 | GATA1 | c.350-20_350-17delinsTCTC (n.350-20_350-17delinsTCTC) c.599-20_599-17delinsTCTC (n.599-20_599-17delinsTCTC) | |
X | g.48792308_48792312dup | CA10404638 | GATA1 | c.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 |
X | g.48792307_48792309del | CA10404639 | GATA1 | c.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 |
X | g.48792306C= | CA2428390629 | GATA1 | c.350-17C= (n.350-17C=) c.599-17C= (n.599-17C=) | |
X | g.48792306C>G | CA2428390630 | GATA1 | c.350-17C>G (n.350-17C>G) c.599-17C>G (n.599-17C>G) | dbSNP |
X | g.48792309C= | CA2428390631 | GATA1 | c.350-14C= (n.350-14C=) c.599-14C= (n.599-14C=) | |
X | g.48792309C>T | CA641901874 | GATA1 | c.350-14C>T (n.350-14C>T) c.599-14C>T (n.599-14C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48792309_48792310insCG | CA2428390632 | GATA1 | c.350-14_350-13insCG (n.350-14_350-13insCG) c.599-14_599-13insCG (n.599-14_599-13insCG) | dbSNP |
X | g.48792310T>C | CA1132960155 | GATA1 | c.350-13T>C (n.350-13T>C) c.599-13T>C (n.599-13T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48792310T= | CA2428390633 | GATA1 | c.350-13T= (n.350-13T=) c.599-13T= (n.599-13T=) | |
X | g.48792311C>T | CA2579636862 | GATA1 | c.350-12C>T (n.350-12C>T) c.599-12C>T (n.599-12C>T) | |
X | g.48792313A= | CA2428390634 | GATA1 | c.350-10A= (n.350-10A=) c.599-10A= (n.599-10A=) | |
X | g.48792313A>C | CA2738364357 | GATA1 | c.350-10A>C (n.350-10A>C) c.599-10A>C (n.599-10A>C) | dbSNP |
X | g.48792313A>G | CA10404640 | GATA1 | c.350-10A>G (n.350-10A>G) c.599-10A>G (n.599-10A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48792314C= | CA2428390635 | GATA1 | c.350-9C= (n.350-9C=) c.599-9C= (n.599-9C=) | |
X | g.48792314C>T | CA641901875 | GATA1 | c.350-9C>T (n.350-9C>T) c.599-9C>T (n.599-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48792315C>T | CA2820814272 | GATA1 | c.350-8C>T (n.350-8C>T) c.599-8C>T (n.599-8C>T) | |
X | g.48792318A>C | CA2738506122 | GATA1 | c.350-5A>C (n.350-5A>C) c.599-5A>C (n.599-5A>C) | dbSNP |
X | g.48792319C>T | CA2693649562 | GATA1 | c.350-4C>T (n.350-4C>T) c.599-4C>T (n.599-4C>T) | gnomAD v4 |
X | g.48792321A>C | CA412870307 | GATA1 | c.350-2A>C (n.350-2A>C) c.599-2A>C (n.599-2A>C) | |
X | g.48792321A>G | CA412870301 | GATA1 | c.350-2A>G (n.350-2A>G) c.599-2A>G (n.599-2A>G) | |
X | g.48792321A>T | CA412870297 | GATA1 | c.350-2A>T (n.350-2A>T) c.599-2A>T (n.599-2A>T) | |
X | g.48792322G>A | CA412870311 | GATA1 | c.350-1G>A (n.350-1G>A) c.599-1G>A (n.599-1G>A) | |
X | g.48792322G>C | CA412870317 | GATA1 | c.350-1G>C (n.350-1G>C) c.599-1G>C (n.599-1G>C) | |
X | g.48792322G>T | CA412870321 | GATA1 | c.350-1G>T (n.350-1G>T) c.599-1G>T (n.599-1G>T) | |
X | g.48792323A= | CA2428390636 | GATA1 | c.350A= (p.Glu117=) c.599A= (p.Glu200=) | |
X | g.48792323A>C | CA412870325 | GATA1 | c.350A>C (p.Glu117Ala) c.599A>C (p.Glu200Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48792323A>G | CA412870327 | GATA1 | c.350A>G (p.Glu117Gly) c.599A>G (p.Glu200Gly) | gnomAD v3 gnomAD v4 |
X | g.48792323A>T | CA412870330 | GATA1 | c.350A>T (p.Glu117Val) c.599A>T (p.Glu200Val) | |
X | g.48792324G>A | CA10404641 | GATA1 | c.351G>A (p.Glu117=) c.600G>A (p.Glu200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48792324G>C | CA412870341 | GATA1 | c.351G>C (p.Glu117Asp) c.600G>C (p.Glu200Asp) | |
X | g.48792324G= | CA2428390637 | GATA1 | c.351G= (p.Glu117=) c.600G= (p.Glu200=) | |
X | g.48792324G>T | CA412870337 | GATA1 | c.351G>T (p.Glu117Asp) c.600G>T (p.Glu200Asp) | dbSNP |
X | g.48792325G>A | CA412870346 | GATA1 | c.352G>A (p.Ala118Thr) c.601G>A (p.Ala201Thr) | |
X | g.48792325G>C | CA412870347 | GATA1 | c.352G>C (p.Ala118Pro) c.601G>C (p.Ala201Pro) | |
X | g.48792325G>T | CA412870348 | GATA1 | c.352G>T (p.Ala118Ser) c.601G>T (p.Ala201Ser) | |
X | g.48792326C>A | CA412870353 | GATA1 | c.353C>A (p.Ala118Asp) c.602C>A (p.Ala201Asp) | |
X | g.48792326C>G | CA412870354 | GATA1 | c.353C>G (p.Ala118Gly) c.602C>G (p.Ala201Gly) | |
X | g.48792326C>T | CA412870356 | GATA1 | c.353C>T (p.Ala118Val) c.602C>T (p.Ala201Val) | |
X | g.48792327C>A | CA516357488 | GATA1 | c.354C>A (p.Ala118=) c.603C>A (p.Ala201=) | dbSNP |
X | g.48792327C= | CA2428390638 | GATA1 | c.354C= (p.Ala118=) c.603C= (p.Ala201=) | |
X | g.48792327C>G | CA10404642 | GATA1 | c.354C>G (p.Ala118=) c.603C>G (p.Ala201=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48792327C>T | CA516357490 | GATA1 | c.354C>T (p.Ala118=) c.603C>T (p.Ala201=) | |
X | g.48792328A>C | CA516357491 | GATA1 | c.355A>C (p.Arg119=) c.604A>C (p.Arg202=) | |
X | g.48792328A>G | CA412870366 | GATA1 | c.355A>G (p.Arg119Gly) c.604A>G (p.Arg202Gly) | |
X | g.48792328A>T | CA412870369 | GATA1 | c.355A>T (p.Arg119Trp) c.604A>T (p.Arg202Trp) | |
X | g.48792329G>A | CA412870374 | GATA1 | c.356G>A (p.Arg119Lys) c.605G>A (p.Arg202Lys) | gnomAD v4 |
X | g.48792329G>C | CA412870376 | GATA1 | c.356G>C (p.Arg119Thr) c.605G>C (p.Arg202Thr) | |
X | g.48792329G>T | CA412870379 | GATA1 | c.356G>T (p.Arg119Met) c.605G>T (p.Arg202Met) | COSMIC COSMIC |
X | g.48792330G>A | CA516357499 | GATA1 | c.357G>A (p.Arg119=) c.606G>A (p.Arg202=) | |
X | g.48792330G>C | CA412870382 | GATA1 | c.357G>C (p.Arg119Ser) c.606G>C (p.Arg202Ser) | |
X | g.48792330G>T | CA412870386 | GATA1 | c.357G>T (p.Arg119Ser) c.606G>T (p.Arg202Ser) | |
X | g.48792331G>A | CA412870389 | GATA1 | c.358G>A (p.Glu120Lys) c.607G>A (p.Glu203Lys) | dbSNP |
X | g.48792331G>C | CA412870390 | GATA1 | c.358G>C (p.Glu120Gln) c.607G>C (p.Glu203Gln) | |
X | g.48792331G= | CA2428390639 | GATA1 | c.358G= (p.Glu120=) c.607G= (p.Glu203=) | |
X | g.48792331G>T | CA412870391 | GATA1 | c.358G>T (p.Glu120Ter) c.607G>T (p.Glu203Ter) | |
X | g.48792332A>C | CA412870392 | GATA1 | c.359A>C (p.Glu120Ala) c.608A>C (p.Glu203Ala) | COSMIC COSMIC |
X | g.48792332A>G | CA412870393 | GATA1 | c.359A>G (p.Glu120Gly) c.608A>G (p.Glu203Gly) | |
X | g.48792332A>T | CA412870397 | GATA1 | c.359A>T (p.Glu120Val) c.608A>T (p.Glu203Val) | |
X | g.48792333G>A | CA516357505 | GATA1 | c.360G>A (p.Glu120=) c.609G>A (p.Glu203=) | dbSNP |
X | g.48792333G>C | CA412870406 | GATA1 | c.360G>C (p.Glu120Asp) c.609G>C (p.Glu203Asp) | |
X | g.48792333G= | CA2428390640 | GATA1 | c.360G= (p.Glu120=) c.609G= (p.Glu203=) | |
X | g.48792333G>T | CA412870407 | GATA1 | c.360G>T (p.Glu120Asp) c.609G>T (p.Glu203Asp) | |
X | g.48792334T>A | CA412870410 | GATA1 | c.361T>A (p.Cys121Ser) c.610T>A (p.Cys204Ser) | |
X | g.48792334T>C | CA412870414 | GATA1 | c.361T>C (p.Cys121Arg) c.610T>C (p.Cys204Arg) | |
X | g.48792334T>G | CA412870417 | GATA1 | c.361T>G (p.Cys121Gly) c.610T>G (p.Cys204Gly) | |
X | g.48792335G>A | CA412870420 | GATA1 | c.362G>A (p.Cys121Tyr) c.611G>A (p.Cys204Tyr) | |
X | g.48792335G>C | CA412870424 | GATA1 | c.362G>C (p.Cys121Ser) c.611G>C (p.Cys204Ser) | |
X | g.48792335G>T | CA412870426 | GATA1 | c.362G>T (p.Cys121Phe) c.611G>T (p.Cys204Phe) | |
X | g.48792336T>A | CA412870433 | GATA1 | c.363T>A (p.Cys121Ter) c.612T>A (p.Cys204Ter) | |
X | g.48792336T>C | CA516357511 | GATA1 | c.363T>C (p.Cys121=) c.612T>C (p.Cys204=) | |
X | g.48792336T>G | CA412870430 | GATA1 | c.363T>G (p.Cys121Trp) c.612T>G (p.Cys204Trp) | |
X | g.48792337G>A | CA121062 | GATA1 | c.364G>A (p.Val122Met) c.613G>A (p.Val205Met) | ClinVar dbSNP |
X | g.48792337G>C | CA412870440 | GATA1 | c.364G>C (p.Val122Leu) c.613G>C (p.Val205Leu) | |
X | g.48792337G= | CA2428390641 | GATA1 | c.364G= (p.Val122=) c.613G= (p.Val205=) | |
X | g.48792337G>T | CA412870443 | GATA1 | c.364G>T (p.Val122Leu) c.613G>T (p.Val205Leu) | |
X | g.48792338T>A | CA412870447 | GATA1 | c.365T>A (p.Val122Glu) c.614T>A (p.Val205Glu) | |
X | g.48792338T>C | CA412870452 | GATA1 | c.365T>C (p.Val122Ala) c.614T>C (p.Val205Ala) | gnomAD v4 |
X | g.48792338T>G | CA412870455 | GATA1 | c.365T>G (p.Val122Gly) c.614T>G (p.Val205Gly) | |
X | g.48792339G>A | CA516357518 | GATA1 | c.366G>A (p.Val122=) c.615G>A (p.Val205=) | dbSNP |
X | g.48792339G>C | CA516357519 | GATA1 | c.366G>C (p.Val122=) c.615G>C (p.Val205=) | |
X | g.48792339G= | CA2428390642 | GATA1 | c.366G= (p.Val122=) c.615G= (p.Val205=) | |
X | g.48792339G>T | CA516357521 | GATA1 | c.366G>T (p.Val122=) c.615G>T (p.Val205=) | |
X | g.48792340A>C | CA412870462 | GATA1 | c.367A>C (p.Asn123His) c.616A>C (p.Asn206His) | |
X | g.48792340A>G | CA412870458 | GATA1 | c.367A>G (p.Asn123Asp) c.616A>G (p.Asn206Asp) | |
X | g.48792340A>T | CA412870461 | GATA1 | c.367A>T (p.Asn123Tyr) c.616A>T (p.Asn206Tyr) | |
X | g.48792341A>C | CA412870464 | GATA1 | c.368A>C (p.Asn123Thr) c.617A>C (p.Asn206Thr) | |
X | g.48792341A>G | CA412870466 | GATA1 | c.368A>G (p.Asn123Ser) c.617A>G (p.Asn206Ser) | |
X | g.48792341A>T | CA412870469 | GATA1 | c.368A>T (p.Asn123Ile) c.617A>T (p.Asn206Ile) | |
X | g.48792342C>A | CA412870470 | GATA1 | c.369C>A (p.Asn123Lys) c.618C>A (p.Asn206Lys) | ClinVar |
X | g.48792342C>G | CA412870473 | GATA1 | c.369C>G (p.Asn123Lys) c.618C>G (p.Asn206Lys) | |
X | g.48792342C>T | CA516357535 | GATA1 | c.369C>T (p.Asn123=) c.618C>T (p.Asn206=) | |
X | g.48792343T>A | CA412870484 | GATA1 | c.370T>A (p.Cys124Ser) c.619T>A (p.Cys207Ser) | |
X | g.48792343T>C | CA412870476 | GATA1 | c.370T>C (p.Cys124Arg) c.619T>C (p.Cys207Arg) | |
X | g.48792343T>G | CA412870480 | GATA1 | c.370T>G (p.Cys124Gly) c.619T>G (p.Cys207Gly) | |
X | g.48792344G>A | CA412870491 | GATA1 | c.371G>A (p.Cys124Tyr) c.620G>A (p.Cys207Tyr) | dbSNP |
X | g.48792344G>C | CA412870492 | GATA1 | c.371G>C (p.Cys124Ser) c.620G>C (p.Cys207Ser) | |
X | g.48792344G= | CA2428390643 | GATA1 | c.371G= (p.Cys124=) c.620G= (p.Cys207=) | |
X | g.48792344G>T | CA412870495 | GATA1 | c.371G>T (p.Cys124Phe) c.620G>T (p.Cys207Phe) | |
X | g.48792345C>A | CA412870497 | GATA1 | c.372C>A (p.Cys124Ter) c.621C>A (p.Cys207Ter) | |
X | g.48792345C= | CA2428390644 | GATA1 | c.372C= (p.Cys124=) c.621C= (p.Cys207=) | |
X | g.48792345C>G | CA412870498 | GATA1 | c.372C>G (p.Cys124Trp) c.621C>G (p.Cys207Trp) | |
X | g.48792345C>T | CA10404643 | GATA1 | c.372C>T (p.Cys124=) c.621C>T (p.Cys207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48792346G>A | CA16043250 | GATA1 | c.373G>A (p.Gly125Arg) c.622G>A (p.Gly208Arg) | ClinVar dbSNP |
X | g.48792346G>C | CA345942 | GATA1 | c.373G>C (p.Gly125Arg) c.622G>C (p.Gly208Arg) | ClinVar dbSNP |
X | g.48792346G= | CA2428390646 | GATA1 | c.373G= (p.Gly125=) c.622G= (p.Gly208=) | |
X | g.48792346G>T | CA412870503 | GATA1 | c.373G>T (p.Gly125Ter) c.622G>T (p.Gly208Ter) | |
X | g.48792346_48792347delinsGG | CA2428390645 | GATA1 | c.373_374delinsGG (p.Gly125=) c.622_623delinsGG (p.Gly208=) | |
X | g.48792346_48792347delinsTC | CA121066 | GATA1 | c.373_374delinsTC (p.Gly125Ser) c.622_623delinsTC (p.Gly208Ser) | ClinVar dbSNP |
X | g.48792347G>A | CA412870511 | GATA1 | c.374G>A (p.Gly125Glu) c.623G>A (p.Gly208Glu) | dbSNP |
X | g.48792347G>C | CA412870518 | GATA1 | c.374G>C (p.Gly125Ala) c.623G>C (p.Gly208Ala) | ClinVar |
X | g.48792347G= | CA2428390647 | GATA1 | c.374G= (p.Gly125=) c.623G= (p.Gly208=) | |
X | g.48792347G>T | CA412870520 | GATA1 | c.374G>T (p.Gly125Val) c.623G>T (p.Gly208Val) | |
X | g.48792348A= | CA2428390648 | GATA1 | c.375A= (p.Gly125=) c.624A= (p.Gly208=) | |
X | g.48792348A>C | CA516357557 | GATA1 | c.375A>C (p.Gly125=) c.624A>C (p.Gly208=) | |
X | g.48792348A>G | CA10404644 | GATA1 | c.375A>G (p.Gly125=) c.624A>G (p.Gly208=) | dbSNP ExAC gnomAD v4 |
X | g.48792348A>T | CA516357562 | GATA1 | c.375A>T (p.Gly125=) c.624A>T (p.Gly208=) | |
X | g.48792349G>A | CA412870530 | GATA1 | c.376G>A (p.Ala126Thr) c.625G>A (p.Ala209Thr) | dbSNP |
X | g.48792349G>C | CA412870528 | GATA1 | c.376G>C (p.Ala126Pro) c.625G>C (p.Ala209Pro) | |
X | g.48792349G= | CA2428390649 | GATA1 | c.376G= (p.Ala126=) c.625G= (p.Ala209=) | |
X | g.48792349G>T | CA412870529 | GATA1 | c.376G>T (p.Ala126Ser) c.625G>T (p.Ala209Ser) | |
X | g.48792350C>A | CA412870531 | GATA1 | c.377C>A (p.Ala126Glu) c.626C>A (p.Ala209Glu) | |
X | g.48792350C>G | CA412870532 | GATA1 | c.377C>G (p.Ala126Gly) c.626C>G (p.Ala209Gly) | |
X | g.48792350C>T | CA412870534 | GATA1 | c.377C>T (p.Ala126Val) c.626C>T (p.Ala209Val) | |
X | g.48792351A>C | CA516357567 | GATA1 | c.378A>C (p.Ala126=) c.627A>C (p.Ala209=) | |
X | g.48792351A>G | CA516357568 | GATA1 | c.378A>G (p.Ala126=) c.627A>G (p.Ala209=) | |
X | g.48792351A>T | CA516357571 | GATA1 | c.378A>T (p.Ala126=) c.627A>T (p.Ala209=) | |
X | g.48792352dup | CA2579636863 | GATA1 | c.379dup (p.Thr127AsnfsTer?) c.628dup (p.Thr210AsnfsTer?) | |
X | g.48792352A= | CA2428390650 | GATA1 | c.379A= (p.Thr127=) c.628A= (p.Thr210=) | |
X | g.48792352A>C | CA10404645 | GATA1 | c.379A>C (p.Thr127Pro) c.628A>C (p.Thr210Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48792352A>G | CA412870549 | GATA1 | c.379A>G (p.Thr127Ala) c.628A>G (p.Thr210Ala) | |
X | g.48792352A>T | CA412870551 | GATA1 | c.379A>T (p.Thr127Ser) c.628A>T (p.Thr210Ser) | |
X | g.48792353C>A | CA412870552 | GATA1 | c.380C>A (p.Thr127Lys) c.629C>A (p.Thr210Lys) | |
X | g.48792353C>G | CA412870554 | GATA1 | c.380C>G (p.Thr127Arg) c.629C>G (p.Thr210Arg) | |
X | g.48792353C>T | CA412870555 | GATA1 | c.380C>T (p.Thr127Ile) c.629C>T (p.Thr210Ile) | |
X | g.48792353dup | CA2428390651 | GATA1 | c.380dup (p.Ala128SerfsTer?) c.629dup (p.Ala211SerfsTer?) | dbSNP |
X | g.48792354A>C | CA516357595 | GATA1 | c.381A>C (p.Thr127=) c.630A>C (p.Thr210=) | |
X | g.48792354A>G | CA516357597 | GATA1 | c.381A>G (p.Thr127=) c.630A>G (p.Thr210=) | |
X | g.48792354A>T | CA516357599 | GATA1 | c.381A>T (p.Thr127=) c.630A>T (p.Thr210=) | |
X | g.48792355G>A | CA412870556 | GATA1 | c.382G>A (p.Ala128Thr) c.631G>A (p.Ala211Thr) | |
X | g.48792355G>C | CA412870558 | GATA1 | c.382G>C (p.Ala128Pro) c.631G>C (p.Ala211Pro) | |
X | g.48792355G>T | CA412870561 | GATA1 | c.382G>T (p.Ala128Ser) c.631G>T (p.Ala211Ser) | |
X | g.48792356C>A | CA412870566 | GATA1 | c.383C>A (p.Ala128Asp) c.632C>A (p.Ala211Asp) | |
X | g.48792356C>G | CA412870564 | GATA1 | c.383C>G (p.Ala128Gly) c.632C>G (p.Ala211Gly) | |
X | g.48792356C>T | CA412870565 | GATA1 | c.383C>T (p.Ala128Val) c.632C>T (p.Ala211Val) | |
X | g.48792357C>A | CA516357613 | GATA1 | c.384C>A (p.Ala128=) c.633C>A (p.Ala211=) | |
X | g.48792357C>G | CA516357612 | GATA1 | c.384C>G (p.Ala128=) c.633C>G (p.Ala211=) | |
X | g.48792357C>T | CA516357610 | GATA1 | c.384C>T (p.Ala128=) c.633C>T (p.Ala211=) | |
X | g.48792358A>C | CA412870569 | GATA1 | c.385A>C (p.Thr129Pro) c.634A>C (p.Thr212Pro) | |
X | g.48792358A>G | CA412870573 | GATA1 | c.385A>G (p.Thr129Ala) c.634A>G (p.Thr212Ala) | |
X | g.48792358A>T | CA412870572 | GATA1 | c.385A>T (p.Thr129Ser) c.634A>T (p.Thr212Ser) | |
X | g.48792359C>A | CA412870574 | GATA1 | c.386C>A (p.Thr129Asn) c.635C>A (p.Thr212Asn) | |
X | g.48792359C>G | CA412870576 | GATA1 | c.386C>G (p.Thr129Ser) c.635C>G (p.Thr212Ser) | |
X | g.48792359C>T | CA412870578 | GATA1 | c.386C>T (p.Thr129Ile) c.635C>T (p.Thr212Ile) | |
X | g.48792360T>A | CA516357629 | GATA1 | c.387T>A (p.Thr129=) c.636T>A (p.Thr212=) | |
X | g.48792360T>C | CA516357622 | GATA1 | c.387T>C (p.Thr129=) c.636T>C (p.Thr212=) | |
X | g.48792360T>G | CA516357619 | GATA1 | c.387T>G (p.Thr129=) c.636T>G (p.Thr212=) | |
X | g.48792361C>A | CA412870581 | GATA1 | c.388C>A (p.Pro130Thr) c.637C>A (p.Pro213Thr) | |
X | g.48792361C>G | CA412870583 | GATA1 | c.388C>G (p.Pro130Ala) c.637C>G (p.Pro213Ala) | |
X | g.48792361C>T | CA412870585 | GATA1 | c.388C>T (p.Pro130Ser) c.637C>T (p.Pro213Ser) | gnomAD v4 |
X | g.48792362C>A | CA412870588 | GATA1 | c.389C>A (p.Pro130Gln) c.638C>A (p.Pro213Gln) | |
X | g.48792362C>G | CA412870592 | GATA1 | c.389C>G (p.Pro130Arg) c.638C>G (p.Pro213Arg) | |
X | g.48792362C>T | CA412870594 | GATA1 | c.389C>T (p.Pro130Leu) c.638C>T (p.Pro213Leu) | |
X | g.48792363A>C | CA516357634 | GATA1 | c.390A>C (p.Pro130=) c.639A>C (p.Pro213=) | gnomAD v4 |
X | g.48792363A>G | CA516357637 | GATA1 | c.390A>G (p.Pro130=) c.639A>G (p.Pro213=) | |
X | g.48792363A>T | CA516357636 | GATA1 | c.390A>T (p.Pro130=) c.639A>T (p.Pro213=) | |
X | g.48792364C>A | CA412870596 | GATA1 | c.391C>A (p.Leu131Met) c.640C>A (p.Leu214Met) | |
X | g.48792364C>G | CA412870598 | GATA1 | c.391C>G (p.Leu131Val) c.640C>G (p.Leu214Val) | |
X | g.48792364C>T | CA516357639 | GATA1 | c.391C>T (p.Leu131=) c.640C>T (p.Leu214=) | dbSNP |
X | g.48792365T>A | CA412870605 | GATA1 | c.392T>A (p.Leu131Gln) c.641T>A (p.Leu214Gln) | |
X | g.48792365T>C | CA412870601 | GATA1 | c.392T>C (p.Leu131Pro) c.641T>C (p.Leu214Pro) | |
X | g.48792365T>G | CA412870603 | GATA1 | c.392T>G (p.Leu131Arg) c.641T>G (p.Leu214Arg) | |
X | g.48792366G>A | CA516357643 | GATA1 | c.393G>A (p.Leu131=) c.642G>A (p.Leu214=) | |
X | g.48792366G>C | CA516357644 | GATA1 | c.393G>C (p.Leu131=) c.642G>C (p.Leu214=) | |
X | g.48792366G>T | CA516357646 | GATA1 | c.393G>T (p.Leu131=) c.642G>T (p.Leu214=) | |
X | g.48792367T>A | CA412870608 | GATA1 | c.394T>A (p.Trp132Arg) c.643T>A (p.Trp215Arg) | |
X | g.48792367T>C | CA412870610 | GATA1 | c.394T>C (p.Trp132Arg) c.643T>C (p.Trp215Arg) | |
X | g.48792367T>G | CA412870613 | GATA1 | c.394T>G (p.Trp132Gly) c.643T>G (p.Trp215Gly) | |
X | g.48792368G>A | CA412870615 | GATA1 | c.395G>A (p.Trp132Ter) c.644G>A (p.Trp215Ter) | |
X | g.48792368G>C | CA412870617 | GATA1 | c.395G>C (p.Trp132Ser) c.644G>C (p.Trp215Ser) | |
X | g.48792368G>T | CA412870619 | GATA1 | c.395G>T (p.Trp132Leu) c.644G>T (p.Trp215Leu) | |
X | g.48792369G>A | CA412870623 | GATA1 | c.396G>A (p.Trp132Ter) c.645G>A (p.Trp215Ter) | |
X | g.48792369G>C | CA412870625 | GATA1 | c.396G>C (p.Trp132Cys) c.645G>C (p.Trp215Cys) | |
X | g.48792369G>T | CA412870627 | GATA1 | c.396G>T (p.Trp132Cys) c.645G>T (p.Trp215Cys) | |
X | g.48792370C>A | CA516357664 | GATA1 | c.397C>A (p.Arg133=) c.646C>A (p.Arg216=) | |
X | g.48792370C= | CA2428390652 | GATA1 | c.397C= (p.Arg133=) c.646C= (p.Arg216=) | |
X | g.48792370C>G | CA412870630 | GATA1 | c.397C>G (p.Arg133Gly) c.646C>G (p.Arg216Gly) | |
X | g.48792370C>T | CA342811 | GATA1 | c.397C>T (p.Arg133Trp) c.646C>T (p.Arg216Trp) | ClinVar dbSNP |
X | g.48792371G>A | CA340965 | GATA1 | c.398G>A (p.Arg133Gln) c.647G>A (p.Arg216Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.48792371G>C | CA412870638 | GATA1 | c.398G>C (p.Arg133Pro) c.647G>C (p.Arg216Pro) | |
X | g.48792371G= | CA2428390653 | GATA1 | c.398G= (p.Arg133=) c.647G= (p.Arg216=) | |
X | g.48792371G>T | CA412870635 | GATA1 | c.398G>T (p.Arg133Leu) c.647G>T (p.Arg216Leu) | |
X | g.48792372G>A | CA516357666 | GATA1 | c.399G>A (p.Arg133=) c.648G>A (p.Arg216=) | |
X | g.48792372G>C | CA516357667 | GATA1 | c.399G>C (p.Arg133=) c.648G>C (p.Arg216=) | |
X | g.48792372G>T | CA516357668 | GATA1 | c.399G>T (p.Arg133=) c.648G>T (p.Arg216=) | |
X | g.48792373A>C | CA516357672 | GATA1 | c.400A>C (p.Arg134=) c.649A>C (p.Arg217=) | |
X | g.48792373A>G | CA412870643 | GATA1 | c.400A>G (p.Arg134Gly) c.649A>G (p.Arg217Gly) | |
X | g.48792373A>T | CA412870642 | GATA1 | c.400A>T (p.Arg134Trp) c.649A>T (p.Arg217Trp) | |
X | g.48792374G>A | CA329106871 | GATA1 | c.401G>A (p.Arg134Lys) c.650G>A (p.Arg217Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48792374G>C | CA412870649 | GATA1 | c.401G>C (p.Arg134Thr) c.650G>C (p.Arg217Thr) | ClinVar dbSNP |
X | g.48792374G= | CA2428390654 | GATA1 | c.401G= (p.Arg134=) c.650G= (p.Arg217=) | |
X | g.48792374G>T | CA412870651 | GATA1 | c.401G>T (p.Arg134Met) c.650G>T (p.Arg217Met) | |
X | g.48792375G>A | CA516357676 | GATA1 | c.402G>A (p.Arg134=) c.651G>A (p.Arg217=) | gnomAD v4 |
X | g.48792375G>C | CA412870653 | GATA1 | c.402G>C (p.Arg134Ser) c.651G>C (p.Arg217Ser) | |
X | g.48792375G>T | CA412870655 | GATA1 | c.402G>T (p.Arg134Ser) c.651G>T (p.Arg217Ser) | |
X | g.48792376G>A | CA412870656 | GATA1 | c.403G>A (p.Asp135Asn) c.652G>A (p.Asp218Asn) | ClinVar dbSNP |
X | g.48792376G>C | CA412870657 | GATA1 | c.403G>C (p.Asp135His) c.652G>C (p.Asp218His) | |
X | g.48792376G= | CA2428390655 | GATA1 | c.403G= (p.Asp135=) c.652G= (p.Asp218=) | |
X | g.48792376G>T | CA121069 | GATA1 | c.403G>T (p.Asp135Tyr) c.652G>T (p.Asp218Tyr) | ClinVar dbSNP |
X | g.48792377A= | CA2428390656 | GATA1 | c.404A= (p.Asp135=) c.653A= (p.Asp218=) | |
X | g.48792377A>C | CA412870659 | GATA1 | c.404A>C (p.Asp135Ala) c.653A>C (p.Asp218Ala) | |
X | g.48792377A>G | CA121064 | GATA1 | c.404A>G (p.Asp135Gly) c.653A>G (p.Asp218Gly) | ClinVar dbSNP |
X | g.48792377A>T | CA412870662 | GATA1 | c.404A>T (p.Asp135Val) c.653A>T (p.Asp218Val) | |
X | g.48792378C>A | CA412870669 | GATA1 | c.405C>A (p.Asp135Glu) c.654C>A (p.Asp218Glu) | |
X | g.48792378C>G | CA412870671 | GATA1 | c.405C>G (p.Asp135Glu) c.654C>G (p.Asp218Glu) | |
X | g.48792378C>T | CA516357679 | GATA1 | c.405C>T (p.Asp135=) c.654C>T (p.Asp218=) | |
X | g.48792379A>C | CA516357690 | GATA1 | c.406A>C (p.Arg136=) c.655A>C (p.Arg219=) | |
X | g.48792379A>G | CA412870674 | GATA1 | c.406A>G (p.Arg136Gly) c.655A>G (p.Arg219Gly) | |
X | g.48792379A>T | CA412870675 | GATA1 | c.406A>T (p.Arg136Trp) c.655A>T (p.Arg219Trp) | |
X | g.48792380G>A | CA412870679 | GATA1 | c.407G>A (p.Arg136Lys) c.656G>A (p.Arg219Lys) | |
X | g.48792380G>C | CA412870686 | GATA1 | c.407G>C (p.Arg136Thr) c.656G>C (p.Arg219Thr) | |
X | g.48792380G>T | CA412870688 | GATA1 | c.407G>T (p.Arg136Met) c.656G>T (p.Arg219Met) | |
X | g.48792381G>A | CA516357695 | GATA1 | c.408G>A (p.Arg136=) c.657G>A (p.Arg219=) | |
X | g.48792381G>C | CA412870692 | GATA1 | c.408G>C (p.Arg136Ser) c.657G>C (p.Arg219Ser) | |
X | g.48792381G>T | CA412870694 | GATA1 | c.408G>T (p.Arg136Ser) c.657G>T (p.Arg219Ser) | |
X | g.48792382A>C | CA412870696 | GATA1 | c.409A>C (p.Thr137Pro) c.658A>C (p.Thr220Pro) | ClinVar |
X | g.48792382A>G | CA412870699 | GATA1 | c.409A>G (p.Thr137Ala) c.658A>G (p.Thr220Ala) | |
X | g.48792382A>T | CA412870701 | GATA1 | c.409A>T (p.Thr137Ser) c.658A>T (p.Thr220Ser) | |
X | g.48792383C>A | CA412870703 | GATA1 | c.410C>A (p.Thr137Lys) c.659C>A (p.Thr220Lys) | |
X | g.48792383C>G | CA412870706 | GATA1 | c.410C>G (p.Thr137Arg) c.659C>G (p.Thr220Arg) | |
X | g.48792383C>T | CA412870708 | GATA1 | c.410C>T (p.Thr137Ile) c.659C>T (p.Thr220Ile) | |
X | g.48792384A= | CA2428390657 | GATA1 | c.411A= (p.Thr137=) c.660A= (p.Thr220=) | |
X | g.48792384A>C | CA516357701 | GATA1 | c.411A>C (p.Thr137=) c.660A>C (p.Thr220=) | |
X | g.48792384A>G | CA329106886 | GATA1 | c.411A>G (p.Thr137=) c.660A>G (p.Thr220=) | dbSNP |
X | g.48792384A>T | CA516357707 | GATA1 | c.411A>T (p.Thr137=) c.660A>T (p.Thr220=) | |
X | g.48792385G>A | CA412870713 | GATA1 | c.412G>A (p.Gly138Ser) c.661G>A (p.Gly221Ser) | ClinVar dbSNP |
X | g.48792385G>C | CA412870716 | GATA1 | c.412G>C (p.Gly138Arg) c.661G>C (p.Gly221Arg) | |
X | g.48792385G= | CA2428390658 | GATA1 | c.412G= (p.Gly138=) c.661G= (p.Gly221=) | |
X | g.48792385G>T | CA412870712 | GATA1 | c.412G>T (p.Gly138Cys) c.661G>T (p.Gly221Cys) | |
X | g.48792386G>A | CA412870719 | GATA1 | c.413G>A (p.Gly138Asp) c.662G>A (p.Gly221Asp) | |
X | g.48792386G>C | CA412870724 | GATA1 | c.413G>C (p.Gly138Ala) c.662G>C (p.Gly221Ala) | |
X | g.48792386G>T | CA412870721 | GATA1 | c.413G>T (p.Gly138Val) c.662G>T (p.Gly221Val) |