Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.48791844_48792221del | CA645617210 | GATA1 | c.-29_349del c.221_598del | COSMIC |
X | g.48792180C>A | CA412869933 | GATA1 | c.308C>A (p.Ser103Tyr) c.557C>A (p.Ser186Tyr) | |
X | g.48792180C>G | CA412869935 | GATA1 | c.308C>G (p.Ser103Cys) c.557C>G (p.Ser186Cys) | |
X | g.48792180C>T | CA412869937 | GATA1 | c.308C>T (p.Ser103Phe) c.557C>T (p.Ser186Phe) | |
X | g.48792181C>A | CA516358077 | GATA1 | c.309C>A (p.Ser103=) c.558C>A (p.Ser186=) | |
X | g.48792181C>G | CA516358078 | GATA1 | c.309C>G (p.Ser103=) c.558C>G (p.Ser186=) | |
X | g.48792181C>T | CA516358080 | GATA1 | c.309C>T (p.Ser103=) c.558C>T (p.Ser186=) | |
X | g.48792182T>A | CA412869940 | GATA1 | c.310T>A (p.Ser104Thr) c.559T>A (p.Ser187Thr) | |
X | g.48792182T>C | CA412869942 | GATA1 | c.310T>C (p.Ser104Pro) c.559T>C (p.Ser187Pro) | |
X | g.48792182T>G | CA412869945 | GATA1 | c.310T>G (p.Ser104Ala) c.559T>G (p.Ser187Ala) | |
X | g.48792183C>A | CA412869948 | GATA1 | c.311C>A (p.Ser104Tyr) c.560C>A (p.Ser187Tyr) | |
X | g.48792183C= | CA2428390590 | GATA1 | c.311C= (p.Ser104=) c.560C= (p.Ser187=) | |
X | g.48792183C>G | CA412869951 | GATA1 | c.311C>G (p.Ser104Cys) c.560C>G (p.Ser187Cys) | dbSNP gnomAD v4 |
X | g.48792183C>T | CA412869953 | GATA1 | c.311C>T (p.Ser104Phe) c.560C>T (p.Ser187Phe) | gnomAD v4 COSMIC |
X | g.48792184T>A | CA516358083 | GATA1 | c.312T>A (p.Ser104=) c.561T>A (p.Ser187=) | |
X | g.48792184T>C | CA516358085 | GATA1 | c.312T>C (p.Ser104=) c.561T>C (p.Ser187=) | ClinVar dbSNP gnomAD v4 |
X | g.48792184T>G | CA516358088 | GATA1 | c.312T>G (p.Ser104=) c.561T>G (p.Ser187=) | gnomAD v4 |
X | g.48792185C>A | CA412869957 | GATA1 | c.313C>A (p.Pro105Thr) c.562C>A (p.Pro188Thr) | |
X | g.48792185C>G | CA412869958 | GATA1 | c.313C>G (p.Pro105Ala) c.562C>G (p.Pro188Ala) | |
X | g.48792185C>T | CA412869956 | GATA1 | c.313C>T (p.Pro105Ser) c.562C>T (p.Pro188Ser) | |
X | g.48792186C>A | CA412869964 | GATA1 | c.314C>A (p.Pro105His) c.563C>A (p.Pro188His) | |
X | g.48792186C= | CA2428390591 | GATA1 | c.314C= (p.Pro105=) c.563C= (p.Pro188=) | |
X | g.48792186C>G | CA412869959 | GATA1 | c.314C>G (p.Pro105Arg) c.563C>G (p.Pro188Arg) | |
X | g.48792186C>T | CA412869961 | GATA1 | c.314C>T (p.Pro105Leu) c.563C>T (p.Pro188Leu) | dbSNP |
X | g.48792187C>A | CA516358091 | GATA1 | c.315C>A (p.Pro105=) c.564C>A (p.Pro188=) | |
X | g.48792187C= | CA2428390592 | GATA1 | c.315C= (p.Pro105=) c.564C= (p.Pro188=) | |
X | g.48792187C>G | CA516358093 | GATA1 | c.315C>G (p.Pro105=) c.564C>G (p.Pro188=) | |
X | g.48792187C>T | CA10404618 | GATA1 | c.315C>T (p.Pro105=) c.564C>T (p.Pro188=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48792188A>C | CA412869970 | GATA1 | c.316A>C (p.Lys106Gln) c.565A>C (p.Lys189Gln) | |
X | g.48792188A>G | CA412869973 | GATA1 | c.316A>G (p.Lys106Glu) c.565A>G (p.Lys189Glu) | |
X | g.48792188A>T | CA412869976 | GATA1 | c.316A>T (p.Lys106Ter) c.565A>T (p.Lys189Ter) | |
X | g.48792189A>C | CA412869982 | GATA1 | c.317A>C (p.Lys106Thr) c.566A>C (p.Lys189Thr) | |
X | g.48792189A>G | CA412869979 | GATA1 | c.317A>G (p.Lys106Arg) c.566A>G (p.Lys189Arg) | |
X | g.48792189A>T | CA412869981 | GATA1 | c.317A>T (p.Lys106Met) c.566A>T (p.Lys189Met) | |
X | g.48792190G>A | CA516358097 | GATA1 | c.318G>A (p.Lys106=) c.567G>A (p.Lys189=) | |
X | g.48792190G>C | CA412869985 | GATA1 | c.318G>C (p.Lys106Asn) c.567G>C (p.Lys189Asn) | |
X | g.48792190G>T | CA412869988 | GATA1 | c.318G>T (p.Lys106Asn) c.567G>T (p.Lys189Asn) | |
X | g.48792191C>A | CA412869992 | GATA1 | c.319C>A (p.Leu107Ile) c.568C>A (p.Leu190Ile) | |
X | g.48792191C= | CA2428390593 | GATA1 | c.319C= (p.Leu107=) c.568C= (p.Leu190=) | |
X | g.48792191C>G | CA412869994 | GATA1 | c.319C>G (p.Leu107Val) c.568C>G (p.Leu190Val) | |
X | g.48792191C>T | CA329106733 | GATA1 | c.319C>T (p.Leu107Phe) c.568C>T (p.Leu190Phe) | dbSNP |
X | g.48792192T>A | CA412870010 | GATA1 | c.320T>A (p.Leu107His) c.569T>A (p.Leu190His) | |
X | g.48792192T>C | CA412870002 | GATA1 | c.320T>C (p.Leu107Pro) c.569T>C (p.Leu190Pro) | |
X | g.48792192T>G | CA412870006 | GATA1 | c.320T>G (p.Leu107Arg) c.569T>G (p.Leu190Arg) | |
X | g.48792193T>A | CA516358101 | GATA1 | c.321T>A (p.Leu107=) c.570T>A (p.Leu190=) | |
X | g.48792193T>C | CA516358102 | GATA1 | c.321T>C (p.Leu107=) c.570T>C (p.Leu190=) | |
X | g.48792193T>G | CA516358103 | GATA1 | c.321T>G (p.Leu107=) c.570T>G (p.Leu190=) | |
X | g.48792194C>A | CA412870014 | GATA1 | c.322C>A (p.Arg108Ser) c.571C>A (p.Arg191Ser) | |
X | g.48792194C= | CA2428390594 | GATA1 | c.322C= (p.Arg108=) c.571C= (p.Arg191=) | |
X | g.48792194C>G | CA412870025 | GATA1 | c.322C>G (p.Arg108Gly) c.571C>G (p.Arg191Gly) | |
X | g.48792194C>T | CA10404619 | GATA1 | c.322C>T (p.Arg108Cys) c.571C>T (p.Arg191Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.48792195G>A | CA10404620 | GATA1 | c.323G>A (p.Arg108His) c.572G>A (p.Arg191His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48792195G>C | CA412870028 | GATA1 | c.323G>C (p.Arg108Pro) c.572G>C (p.Arg191Pro) | |
X | g.48792195G= | CA2428390595 | GATA1 | c.323G= (p.Arg108=) c.572G= (p.Arg191=) | |
X | g.48792195G>T | CA412870029 | GATA1 | c.323G>T (p.Arg108Leu) c.572G>T (p.Arg191Leu) | |
X | g.48792196T>A | CA516358105 | GATA1 | c.324T>A (p.Arg108=) c.573T>A (p.Arg191=) | |
X | g.48792196T>C | CA10404621 | GATA1 | c.324T>C (p.Arg108=) c.573T>C (p.Arg191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48792196T>G | CA516358104 | GATA1 | c.324T>G (p.Arg108=) c.573T>G (p.Arg191=) | |
X | g.48792196T= | CA2428390596 | GATA1 | c.324T= (p.Arg108=) c.573T= (p.Arg191=) | |
X | g.48792197G>A | CA412870035 | GATA1 | c.325G>A (p.Gly109Arg) c.574G>A (p.Gly192Arg) | |
X | g.48792197G>C | CA412870040 | GATA1 | c.325G>C (p.Gly109Arg) c.574G>C (p.Gly192Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48792197G= | CA2428390597 | GATA1 | c.325G= (p.Gly109=) c.574G= (p.Gly192=) | |
X | g.48792197G>T | CA412870042 | GATA1 | c.325G>T (p.Gly109Ter) c.574G>T (p.Gly192Ter) | |
X | g.48792198G>A | CA10404622 | GATA1 | c.326G>A (p.Gly109Glu) c.575G>A (p.Gly192Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48792198G>C | CA412870047 | GATA1 | c.326G>C (p.Gly109Ala) c.575G>C (p.Gly192Ala) | |
X | g.48792198G= | CA2428390598 | GATA1 | c.326G= (p.Gly109=) c.575G= (p.Gly192=) | |
X | g.48792198G>T | CA412870048 | GATA1 | c.326G>T (p.Gly109Val) c.575G>T (p.Gly192Val) | |
X | g.48792199A>C | CA516358109 | GATA1 | c.327A>C (p.Gly109=) c.576A>C (p.Gly192=) | |
X | g.48792199A>G | CA516358110 | GATA1 | c.327A>G (p.Gly109=) c.576A>G (p.Gly192=) | |
X | g.48792199A>T | CA516358111 | GATA1 | c.327A>T (p.Gly109=) c.576A>T (p.Gly192=) | |
X | g.48792200A>C | CA412870049 | GATA1 | c.328A>C (p.Thr110Pro) c.577A>C (p.Thr193Pro) | |
X | g.48792200A>G | CA412870054 | GATA1 | c.328A>G (p.Thr110Ala) c.577A>G (p.Thr193Ala) | |
X | g.48792200A>T | CA412870052 | GATA1 | c.328A>T (p.Thr110Ser) c.577A>T (p.Thr193Ser) | |
X | g.48792201C>A | CA412870062 | GATA1 | c.329C>A (p.Thr110Asn) c.578C>A (p.Thr193Asn) | |
X | g.48792201C>G | CA412870065 | GATA1 | c.329C>G (p.Thr110Ser) c.578C>G (p.Thr193Ser) | |
X | g.48792201C>T | CA412870068 | GATA1 | c.329C>T (p.Thr110Ile) c.578C>T (p.Thr193Ile) | |
X | g.48792202T>A | CA516358114 | GATA1 | c.330T>A (p.Thr110=) c.579T>A (p.Thr193=) | |
X | g.48792202T>C | CA516358113 | GATA1 | c.330T>C (p.Thr110=) c.579T>C (p.Thr193=) | ClinVar |
X | g.48792202T>G | CA516358115 | GATA1 | c.330T>G (p.Thr110=) c.579T>G (p.Thr193=) | |
X | g.48792203C>A | CA412870072 | GATA1 | c.331C>A (p.Leu111Ile) c.580C>A (p.Leu194Ile) | |
X | g.48792203C>G | CA412870074 | GATA1 | c.331C>G (p.Leu111Val) c.580C>G (p.Leu194Val) | ClinVar |
X | g.48792203C>T | CA412870079 | GATA1 | c.331C>T (p.Leu111Phe) c.580C>T (p.Leu194Phe) | gnomAD v4 |
X | g.48792204T>A | CA412870081 | GATA1 | c.332T>A (p.Leu111His) c.581T>A (p.Leu194His) | |
X | g.48792204T>C | CA412870084 | GATA1 | c.332T>C (p.Leu111Pro) c.581T>C (p.Leu194Pro) | |
X | g.48792204T>G | CA412870088 | GATA1 | c.332T>G (p.Leu111Arg) c.581T>G (p.Leu194Arg) | |
X | g.48792205C>A | CA516358119 | GATA1 | c.333C>A (p.Leu111=) c.582C>A (p.Leu194=) | COSMIC COSMIC |
X | g.48792205C>G | CA516358120 | GATA1 | c.333C>G (p.Leu111=) c.582C>G (p.Leu194=) | |
X | g.48792205C>T | CA516358121 | GATA1 | c.333C>T (p.Leu111=) c.582C>T (p.Leu194=) | |
X | g.48792209del | CA1139771190 | GATA1 | c.337del (p.Leu113CysfsTer10) c.586del (p.Leu196CysfsTer10) | |
X | g.48792206C>A | CA412870091 | GATA1 | c.334C>A (p.Pro112Thr) c.583C>A (p.Pro195Thr) | |
X | g.48792206C>G | CA412870095 | GATA1 | c.334C>G (p.Pro112Ala) c.583C>G (p.Pro195Ala) | |
X | g.48792206C>T | CA412870098 | GATA1 | c.334C>T (p.Pro112Ser) c.583C>T (p.Pro195Ser) | COSMIC COSMIC |
X | g.48792207C>A | CA412870110 | GATA1 | c.335C>A (p.Pro112His) c.584C>A (p.Pro195His) | |
X | g.48792207C>G | CA412870103 | GATA1 | c.335C>G (p.Pro112Arg) c.584C>G (p.Pro195Arg) | |
X | g.48792207C>T | CA412870106 | GATA1 | c.335C>T (p.Pro112Leu) c.584C>T (p.Pro195Leu) | |
X | g.48792208C>A | CA516358123 | GATA1 | c.336C>A (p.Pro112=) c.585C>A (p.Pro195=) | |
X | g.48792208C>G | CA516358124 | GATA1 | c.336C>G (p.Pro112=) c.585C>G (p.Pro195=) | |
X | g.48792208C>T | CA516358125 | GATA1 | c.336C>T (p.Pro112=) c.585C>T (p.Pro195=) | |
X | g.48792209C>A | CA412870114 | GATA1 | c.337C>A (p.Leu113Met) c.586C>A (p.Leu196Met) | |
X | g.48792209C>G | CA412870116 | GATA1 | c.337C>G (p.Leu113Val) c.586C>G (p.Leu196Val) | |
X | g.48792209C>T | CA516358127 | GATA1 | c.337C>T (p.Leu113=) c.586C>T (p.Leu196=) | |
X | g.48792210T>A | CA412870121 | GATA1 | c.338T>A (p.Leu113Gln) c.587T>A (p.Leu196Gln) | |
X | g.48792210T>C | CA412870124 | GATA1 | c.338T>C (p.Leu113Pro) c.587T>C (p.Leu196Pro) | |
X | g.48792210T>G | CA412870127 | GATA1 | c.338T>G (p.Leu113Arg) c.587T>G (p.Leu196Arg) | |
X | g.48792211G>A | CA516358128 | GATA1 | c.339G>A (p.Leu113=) c.588G>A (p.Leu196=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48792211G>C | CA516358129 | GATA1 | c.339G>C (p.Leu113=) c.588G>C (p.Leu196=) | |
X | g.48792211G= | CA2428390599 | GATA1 | c.339G= (p.Leu113=) c.588G= (p.Leu196=) | |
X | g.48792211G>T | CA516358130 | GATA1 | c.339G>T (p.Leu113=) c.588G>T (p.Leu196=) | COSMIC |
X | g.48792212C>A | CA412870132 | GATA1 | c.340C>A (p.Pro114Thr) c.589C>A (p.Pro197Thr) | dbSNP gnomAD v2 |
X | g.48792212C= | CA2428390600 | GATA1 | c.340C= (p.Pro114=) c.589C= (p.Pro197=) | |
X | g.48792212C>G | CA412870134 | GATA1 | c.340C>G (p.Pro114Ala) c.589C>G (p.Pro197Ala) | |
X | g.48792212C>T | CA412870138 | GATA1 | c.340C>T (p.Pro114Ser) c.589C>T (p.Pro197Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48792213C>A | CA412870143 | GATA1 | c.341C>A (p.Pro114His) c.590C>A (p.Pro197His) | |
X | g.48792213C>G | CA412870145 | GATA1 | c.341C>G (p.Pro114Arg) c.590C>G (p.Pro197Arg) | |
X | g.48792213C>T | CA412870147 | GATA1 | c.341C>T (p.Pro114Leu) c.590C>T (p.Pro197Leu) | |
X | g.48792214T>A | CA516358135 | GATA1 | c.342T>A (p.Pro114=) c.591T>A (p.Pro197=) | |
X | g.48792214T>C | CA516358136 | GATA1 | c.342T>C (p.Pro114=) c.591T>C (p.Pro197=) | |
X | g.48792214T>G | CA516358137 | GATA1 | c.342T>G (p.Pro114=) c.591T>G (p.Pro197=) | |
X | g.48792215C>A | CA412870163 | GATA1 | c.343C>A (p.Pro115Thr) c.592C>A (p.Pro198Thr) | |
X | g.48792215C= | CA2428390601 | GATA1 | c.343C= (p.Pro115=) c.592C= (p.Pro198=) | |
X | g.48792215C>G | CA412870158 | GATA1 | c.343C>G (p.Pro115Ala) c.592C>G (p.Pro198Ala) | |
X | g.48792215C>T | CA412870150 | GATA1 | c.343C>T (p.Pro115Ser) c.592C>T (p.Pro198Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48792216C>A | CA412870165 | GATA1 | c.344C>A (p.Pro115His) c.593C>A (p.Pro198His) | |
X | g.48792216C>G | CA412870167 | GATA1 | c.344C>G (p.Pro115Arg) c.593C>G (p.Pro198Arg) | |
X | g.48792216C>T | CA412870166 | GATA1 | c.344C>T (p.Pro115Leu) c.593C>T (p.Pro198Leu) | gnomAD v4 |
X | g.48792217C>A | CA10404623 | GATA1 | c.345C>A (p.Pro115=) c.594C>A (p.Pro198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48792217C= | CA2428390602 | GATA1 | c.345C= (p.Pro115=) c.594C= (p.Pro198=) | |
X | g.48792217C>G | CA516358141 | GATA1 | c.345C>G (p.Pro115=) c.594C>G (p.Pro198=) | |
X | g.48792217C>T | CA516358142 | GATA1 | c.345C>T (p.Pro115=) c.594C>T (p.Pro198=) | |
X | g.48792218T>A | CA10404624 | GATA1 | c.346T>A (p.Cys116Ser) c.595T>A (p.Cys199Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48792218T>C | CA412870175 | GATA1 | c.346T>C (p.Cys116Arg) c.595T>C (p.Cys199Arg) | ClinVar dbSNP gnomAD v4 |
X | g.48792218T>G | CA412870179 | GATA1 | c.346T>G (p.Cys116Gly) c.595T>G (p.Cys199Gly) | |
X | g.48792218T= | CA2428390603 | GATA1 | c.346T= (p.Cys116=) c.595T= (p.Cys199=) | |
X | g.48792219G>A | CA412870184 | GATA1 | c.347G>A (p.Cys116Tyr) c.596G>A (p.Cys199Tyr) | |
X | g.48792219G>C | CA412870188 | GATA1 | c.347G>C (p.Cys116Ser) c.596G>C (p.Cys199Ser) | |
X | g.48792219G>T | CA412870192 | GATA1 | c.347G>T (p.Cys116Phe) c.596G>T (p.Cys199Phe) | |
X | g.48792220T>A | CA412870199 | GATA1 | c.348T>A (p.Cys116Ter) c.597T>A (p.Cys199Ter) | |
X | g.48792220T>C | CA10404625 | GATA1 | c.348T>C (p.Cys116=) c.597T>C (p.Cys199=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48792220T>G | CA412870209 | GATA1 | c.348T>G (p.Cys116Trp) c.597T>G (p.Cys199Trp) | |
X | g.48792220T= | CA2428390604 | GATA1 | c.348T= (p.Cys116=) c.597T= (p.Cys199=) | |
X | g.48792221G>A | CA412870213 | GATA1 | c.349G>A (p.Glu117Lys) c.598G>A (p.Glu200Lys) | ClinVar |
X | g.48792221G>C | CA412870218 | GATA1 | c.349G>C (p.Glu117Gln) c.598G>C (p.Glu200Gln) | |
X | g.48792221G>T | CA412870220 | GATA1 | c.349G>T (p.Glu117Ter) c.598G>T (p.Glu200Ter) | |
X | g.48792222G>A | CA412870223 | GATA1 | c.349+1G>A (n.349+1G>A) c.598+1G>A (n.598+1G>A) | |
X | g.48792222G>C | CA412870228 | GATA1 | c.349+1G>C (n.349+1G>C) c.598+1G>C (n.598+1G>C) | |
X | g.48792222G>T | CA412870226 | GATA1 | c.349+1G>T (n.349+1G>T) c.598+1G>T (n.598+1G>T) | |
X | g.48792223T>A | CA412870232 | GATA1 | c.349+2T>A (n.349+2T>A) c.598+2T>A (n.598+2T>A) | |
X | g.48792223T>C | CA412870235 | GATA1 | c.349+2T>C (n.349+2T>C) c.598+2T>C (n.598+2T>C) | COSMIC |
X | g.48792223T>G | CA412870239 | GATA1 | c.349+2T>G (n.349+2T>G) c.598+2T>G (n.598+2T>G) | gnomAD v4 |
X | g.48792224G>A | CA10404626 | GATA1 | c.349+3G>A (n.349+3G>A) c.598+3G>A (n.598+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48792224G= | CA2428390605 | GATA1 | c.349+3G= (n.349+3G=) c.598+3G= (n.598+3G=) | |
X | g.48792233A>T | CA2738506120 | GATA1 | c.349+12A>T (n.349+12A>T) c.598+12A>T (n.598+12A>T) | dbSNP |
X | g.48792238dup | CA2693649547 | GATA1 | c.349+17dup (n.349+17dup) c.598+17dup (n.598+17dup) | gnomAD v4 |
X | g.48792238del | CA2820814257 | GATA1 | c.349+17del (n.349+17del) c.598+17del (n.598+17del) | |
X | g.48792235A= | CA2428390606 | GATA1 | c.349+14A= (n.349+14A=) c.598+14A= (n.598+14A=) | |
X | g.48792235A>T | CA10404627 | GATA1 | c.349+14A>T (n.349+14A>T) c.598+14A>T (n.598+14A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48792236A>C | CA2693649548 | GATA1 | c.349+15A>C (n.349+15A>C) c.598+15A>C (n.598+15A>C) | gnomAD v4 |
X | g.48792241A>G | CA2693649549 | GATA1 | c.349+20A>G (n.349+20A>G) c.598+20A>G (n.598+20A>G) | gnomAD v4 |
X | g.48792242C>T | CA2693649550 | GATA1 | c.349+21C>T (n.349+21C>T) c.598+21C>T (n.598+21C>T) | gnomAD v4 |
X | g.48792244G>A | CA2579636854 | GATA1 | c.349+23G>A (n.349+23G>A) c.598+23G>A (n.598+23G>A) | gnomAD v4 |
X | g.48792245G= | CA2428390607 | GATA1 | c.349+24G= (n.349+24G=) c.598+24G= (n.598+24G=) | |
X | g.48792245G>T | CA2428390608 | GATA1 | c.349+24G>T (n.349+24G>T) c.598+24G>T (n.598+24G>T) | dbSNP |
X | g.48792253A>C | CA2579636855 | GATA1 | c.349+32A>C (n.349+32A>C) c.598+32A>C (n.598+32A>C) | |
X | g.48792253A>T | CA2820814259 | GATA1 | c.349+32A>T (n.349+32A>T) c.598+32A>T (n.598+32A>T) | |
X | g.48792254G>A | CA2428390610 | GATA1 | c.349+33G>A (n.349+33G>A) c.598+33G>A (n.598+33G>A) | dbSNP gnomAD v4 |
X | g.48792254G= | CA2428390609 | GATA1 | c.349+33G= (n.349+33G=) c.598+33G= (n.598+33G=) | |
X | g.48792254G>T | CA641901860 | GATA1 | c.349+33G>T (n.349+33G>T) c.598+33G>T (n.598+33G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48792255G= | CA2428390611 | GATA1 | c.349+34G= (n.349+34G=) c.598+34G= (n.598+34G=) | |
X | g.48792255G>T | CA10404628 | GATA1 | c.349+34G>T (n.349+34G>T) c.598+34G>T (n.598+34G>T) | dbSNP ExAC gnomAD v2 |
X | g.48792257G>A | CA2693649551 | GATA1 | c.349+36G>A (n.349+36G>A) c.598+36G>A (n.598+36G>A) | gnomAD v4 |
X | g.48792258G>C | CA10404629 | GATA1 | c.349+37G>C (n.349+37G>C) c.598+37G>C (n.598+37G>C) | dbSNP ExAC gnomAD v4 |
X | g.48792258G= | CA2428390612 | GATA1 | c.349+37G= (n.349+37G=) c.598+37G= (n.598+37G=) | |
X | g.48792259G>A | CA875922735 | GATA1 | c.349+38G>A (n.349+38G>A) c.598+38G>A (n.598+38G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48792259G>C | CA2579636856 | GATA1 | c.349+38G>C (n.349+38G>C) c.598+38G>C (n.598+38G>C) | |
X | g.48792259G= | CA2428390613 | GATA1 | c.349+38G= (n.349+38G=) c.598+38G= (n.598+38G=) | |
X | g.48792260del | CA2579636857 | GATA1 | c.349+39del (n.349+39del) c.598+39del (n.598+39del) | |
X | g.48792260A= | CA2428390614 | GATA1 | c.349+39A= (n.349+39A=) c.598+39A= (n.598+39A=) | |
X | g.48792260A>C | CA2693649552 | GATA1 | c.349+39A>C (n.349+39A>C) c.598+39A>C (n.598+39A>C) | gnomAD v4 |
X | g.48792260A>G | CA10404630 | GATA1 | c.349+39A>G (n.349+39A>G) c.598+39A>G (n.598+39A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48792261G>A | CA875922737 | GATA1 | c.349+40G>A (n.349+40G>A) c.598+40G>A (n.598+40G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.48792261G>C | CA10404631 | GATA1 | c.349+40G>C (n.349+40G>C) c.598+40G>C (n.598+40G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48792261G= | CA2428390615 | GATA1 | c.349+40G= (n.349+40G=) c.598+40G= (n.598+40G=) | |
X | g.48792262G>T | CA2820814263 | GATA1 | c.349+41G>T (n.349+41G>T) c.598+41G>T (n.598+41G>T) | |
X | g.48792264G>A | CA2693649553 | GATA1 | c.349+43G>A (n.349+43G>A) c.598+43G>A (n.598+43G>A) | gnomAD v4 |
X | g.48792266G>A | CA2693649554 | GATA1 | c.349+45G>A (n.349+45G>A) c.598+45G>A (n.598+45G>A) | gnomAD v4 |
X | g.48792271A= | CA2428390616 | GATA1 | c.349+50A= (n.349+50A=) c.598+50A= (n.598+50A=) | |
X | g.48792271A>G | CA10404632 | GATA1 | c.349+50A>G (n.349+50A>G) c.598+50A>G (n.598+50A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48792277A= | CA2428390617 | GATA1 | c.350-46A= (n.350-46A=) c.599-46A= (n.599-46A=) | |
X | g.48792277A>C | CA10404633 | GATA1 | c.350-46A>C (n.350-46A>C) c.599-46A>C (n.599-46A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
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.48792279G>T | CA2693649555 | GATA1 | c.350-44G>T (n.350-44G>T) c.599-44G>T (n.599-44G>T) | gnomAD v4 |
X | g.48792280C= | CA2428390619 | GATA1 | c.350-43C= (n.350-43C=) c.599-43C= (n.599-43C=) | |
X | g.48792280C>G | CA2428390618 | GATA1 | c.350-43C>G (n.350-43C>G) c.599-43C>G (n.599-43C>G) | dbSNP gnomAD v4 |
X | g.48792280C>T | CA2693649556 | GATA1 | c.350-43C>T (n.350-43C>T) c.599-43C>T (n.599-43C>T) | gnomAD v4 |