Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.171847_181556del | CA916083461 | ClinVar | ||
16 | g.172001_181401del | CA916083462 | ClinVar | ||
16 | g.177149_177753delinsAAGTAGA | CA915940715 | |||
16 | g.177402del | CA276417297 | HBA1 | c.420del (p.Lys140AsnfsTer?) c.324del (p.Lys108AsnfsTer?) n.556del | dbSNP |
16 | g.177401A= | CA2200883325 | HBA1 | c.419A= (p.Lys140=) c.323A= (p.Lys108=) n.555A= | |
16 | g.177401A>C | CA125909 | HBA1 | c.419A>C (p.Lys140Thr) c.323A>C (p.Lys108Thr) n.555A>C | ClinVar dbSNP gnomAD v4 |
16 | g.177401A>G | CA393996033 | HBA1 | c.419A>G (p.Lys140Arg) c.323A>G (p.Lys108Arg) n.555A>G | |
16 | g.177401A>T | CA393996034 | HBA1 | c.419A>T (p.Lys140Ile) c.323A>T (p.Lys108Ile) n.555A>T | |
16 | g.177402A>C | CA393996035 | HBA1 | c.420A>C (p.Lys140Asn) c.324A>C (p.Lys108Asn) n.556A>C | gnomAD v4 |
16 | g.177402A>G | CA492994510 | HBA1 | c.420A>G (p.Lys140=) c.324A>G (p.Lys108=) n.556A>G | |
16 | g.177402A>T | CA393996036 | HBA1 | c.420A>T (p.Lys140Asn) c.324A>T (p.Lys108Asn) n.556A>T | |
16 | g.177403T>A | CA393996037 | HBA1 | c.421T>A (p.Tyr141Asn) c.325T>A (p.Tyr109Asn) n.557T>A | |
16 | g.177403T>C | CA125961 | HBA1 | c.421T>C (p.Tyr141His) c.325T>C (p.Tyr109His) n.557T>C | ClinVar dbSNP |
16 | g.177403T>G | CA393996038 | HBA1 | c.421T>G (p.Tyr141Asp) c.325T>G (p.Tyr109Asp) n.557T>G | |
16 | g.177403T= | CA2200883326 | HBA1 | c.421T= (p.Tyr141=) c.325T= (p.Tyr109=) n.557T= | |
16 | g.177404A>C | CA393996176 | HBA1 | c.422A>C (p.Tyr141Ser) c.326A>C (p.Tyr109Ser) n.558A>C | |
16 | g.177404A>G | CA393996181 | HBA1 | c.422A>G (p.Tyr141Cys) c.326A>G (p.Tyr109Cys) n.558A>G | |
16 | g.177404A>T | CA393996183 | HBA1 | c.422A>T (p.Tyr141Phe) c.326A>T (p.Tyr109Phe) n.558A>T | |
16 | g.177405C>A | CA393996185 | HBA1 | c.423C>A (p.Tyr141Ter) c.327C>A (p.Tyr109Ter) n.559C>A | |
16 | g.177405C>G | CA393996188 | HBA1 | c.423C>G (p.Tyr141Ter) c.327C>G (p.Tyr109Ter) n.559C>G | |
16 | g.177405C>T | CA492787333 | HBA1 | c.423C>T (p.Tyr141=) c.327C>T (p.Tyr109=) n.559C>T | gnomAD v4 |
16 | g.177405_177408delinsCCGT | CA2200883327 | HBA1 | c.423_426delinsCCGT (p.Tyr141=) c.327_330delinsCCGT (p.Tyr109=) n.559_562delinsCCGT | |
16 | g.177406C>A | CA125773 | HBA1 | c.424C>A (p.Arg142Ser) c.328C>A (p.Arg110Ser) n.560C>A | ClinVar dbSNP |
16 | g.177406C= | CA2200883328 | HBA1 | c.424C= (p.Arg142=) c.328C= (p.Arg110=) n.560C= | |
16 | g.177406C>G | CA125769 | HBA1 | c.424C>G (p.Arg142Gly) c.328C>G (p.Arg110Gly) n.560C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.177406C>T | CA125845 | HBA1 | c.424C>T (p.Arg142Cys) c.328C>T (p.Arg110Cys) n.560C>T | ClinVar dbSNP |
16 | g.177406_177408del | CA125803 | HBA1 | c.424_426del (p.Arg142del) c.328_330del (p.Arg110del) n.560_562del | ClinVar dbSNP |
16 | g.177407G>A | CA125901 | HBA1 | c.425G>A (p.Arg142His) c.329G>A (p.Arg110His) n.561G>A | ClinVar dbSNP |
16 | g.177407G>C | CA125889 | HBA1 | c.425G>C (p.Arg142Pro) c.329G>C (p.Arg110Pro) n.561G>C | ClinVar dbSNP gnomAD v4 |
16 | g.177407G= | CA2200883329 | HBA1 | c.425G= (p.Arg142=) c.329G= (p.Arg110=) n.561G= | |
16 | g.177407G>T | CA125809 | HBA1 | c.425G>T (p.Arg142Leu) c.329G>T (p.Arg110Leu) n.561G>T | ClinVar dbSNP |
16 | g.177408T>A | CA492787335 | HBA1 | c.426T>A (p.Arg142=) c.330T>A (p.Arg110=) n.562T>A | |
16 | g.177408T>C | CA492787337 | HBA1 | c.426T>C (p.Arg142=) c.330T>C (p.Arg110=) n.562T>C | |
16 | g.177408T>G | CA492787336 | HBA1 | c.426T>G (p.Arg142=) c.330T>G (p.Arg110=) n.562T>G | |
16 | g.177409T>A | CA393996194 | HBA1 | c.427T>A (p.Ter143Lys) c.331T>A (p.Ter111Lys) n.563T>A | |
16 | g.177409T>C | CA393996195 | HBA1 | c.427T>C (p.Ter143Gln) c.331T>C (p.Ter111Gln) n.563T>C | |
16 | g.177409T>G | CA393996196 | HBA1 | c.427T>G (p.Ter143Glu) c.331T>G (p.Ter111Glu) n.563T>G | |
16 | g.177410A>C | CA393996198 | HBA1 | c.428A>C (p.Ter143Ser) c.332A>C (p.Ter111Ser) n.564A>C | |
16 | g.177410A>G | CA492787338 | HBA1 | c.428A>G (p.Ter143=) c.332A>G (p.Ter111=) n.564A>G | |
16 | g.177410A>T | CA393996199 | HBA1 | c.428A>T (p.Ter143Leu) c.332A>T (p.Ter111Leu) n.564A>T | |
16 | g.177411A= | CA2200883330 | HBA1 | c.429A= (p.Ter143=) c.333A= (p.Ter111=) n.565A= | |
16 | g.177411A>C | CA393996201 | HBA1 | c.429A>C (p.Ter143Tyr) c.333A>C (p.Ter111Tyr) n.565A>C | gnomAD v4 |
16 | g.177411A>G | CA492787339 | HBA1 | c.429A>G (p.Ter143=) c.333A>G (p.Ter111=) n.565A>G | dbSNP |
16 | g.177411A>T | CA393996202 | HBA1 | c.429A>T (p.Ter143Tyr) c.333A>T (p.Ter111Tyr) n.565A>T | |
16 | g.177413C>A | CA973584962 | HBA1 | c.*2C>A (n.*2C>A) n.567C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.177413C= | CA2200883331 | HBA1 | c.*2C= (n.*2C=) n.567C= | |
16 | g.177413C>T | CA2630736365 | HBA1 | c.*2C>T (n.*2C>T) n.567C>T | gnomAD v4 |
16 | g.177417A= | CA2200883332 | HBA1 | c.*6A= (n.*6A=) n.571A= | |
16 | g.177417A>G | CA620161667 | HBA1 | c.*6A>G (n.*6A>G) n.571A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177419C= | CA2200883333 | HBA1 | c.*8C= (n.*8C=) n.573C= |