| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254319C>A | CA379264141 | HBG2 | c.288G>T (p.Lys96Asn) c.123G>T (p.Lys41Asn) c.258G>T (p.Lys86Asn) c.*157G>T (n.*157G>T) c.67C>A (p.Leu23Ile) | |
| 11 | g.5254319C= | CA1949577257 | HBG2 | c.288G= (p.Lys96=) c.123G= (p.Lys41=) c.258G= (p.Lys86=) c.*157G= (n.*157G=) c.67C= (p.Leu23=) | |
| 11 | g.5254319C>G | CA379264142 | HBG2 | c.288G>C (p.Lys96Asn) c.123G>C (p.Lys41Asn) c.258G>C (p.Lys86Asn) c.*157G>C (n.*157G>C) c.67C>G (p.Leu23Val) | gnomAD v4 |
| 11 | g.5254319C>T | CA5840254 | HBG2 | c.288G>A (p.Lys96=) c.123G>A (p.Lys41=) c.258G>A (p.Lys86=) c.*157G>A (n.*157G>A) c.67C>T (p.Leu23Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254320T>A | CA379264143 | HBG2 | c.287A>T (p.Lys96Met) c.122A>T (p.Lys41Met) c.257A>T (p.Lys86Met) c.*156A>T (n.*156A>T) c.68T>A (p.Leu23His) | dbSNP |
| 11 | g.5254320T>C | CA379264144 | HBG2 | c.287A>G (p.Lys96Arg) c.122A>G (p.Lys41Arg) c.257A>G (p.Lys86Arg) c.*156A>G (n.*156A>G) c.68T>C (p.Leu23Pro) | gnomAD v4 |
| 11 | g.5254320T>G | CA379264145 | HBG2 | c.287A>C (p.Lys96Thr) c.122A>C (p.Lys41Thr) c.257A>C (p.Lys86Thr) c.*156A>C (n.*156A>C) c.68T>G (p.Leu23Arg) | |
| 11 | g.5254321T>A | CA379264148 | HBG2 | c.286A>T (p.Lys96Ter) c.121A>T (p.Lys41Ter) c.256A>T (p.Lys86Ter) c.*155A>T (n.*155A>T) c.69T>A (p.Leu23=) | |
| 11 | g.5254321T>C | CA379264146 | HBG2 | c.286A>G (p.Lys96Glu) c.121A>G (p.Lys41Glu) c.256A>G (p.Lys86Glu) c.*155A>G (n.*155A>G) c.69T>C (p.Leu23=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254321T>G | CA379264147 | HBG2 | c.286A>C (p.Lys96Gln) c.121A>C (p.Lys41Gln) c.256A>C (p.Lys86Gln) c.*155A>C (n.*155A>C) c.69T>G (p.Leu23=) | |
| 11 | g.5254321T= | CA1949577262 | HBG2 | c.286A= (p.Lys96=) c.121A= (p.Lys41=) c.256A= (p.Lys86=) c.*155A= (n.*155A=) c.69T= (p.Leu23=) | |
| 11 | g.5254322G>A | CA379264149 | HBG2 | c.285C>T (p.Asp95=) c.120C>T (p.Asp40=) c.255C>T (p.Asp85=) c.*154C>T (n.*154C>T) c.70G>A (p.Val24Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254322G>C | CA379264150 | HBG2 | c.285C>G (p.Asp95Glu) c.120C>G (p.Asp40Glu) c.255C>G (p.Asp85Glu) c.*154C>G (n.*154C>G) c.70G>C (p.Val24Leu) | |
| 11 | g.5254322G= | CA1949577266 | HBG2 | c.285C= (p.Asp95=) c.120C= (p.Asp40=) c.255C= (p.Asp85=) c.*154C= (n.*154C=) c.70G= (p.Val24=) | |
| 11 | g.5254322G>T | CA379264151 | HBG2 | c.285C>A (p.Asp95Glu) c.120C>A (p.Asp40Glu) c.255C>A (p.Asp85Glu) c.*154C>A (n.*154C>A) c.70G>T (p.Val24Phe) | |
| 11 | g.5254323T>A | CA379264152 | HBG2 | c.284A>T (p.Asp95Val) c.119A>T (p.Asp40Val) c.254A>T (p.Asp85Val) c.*153A>T (n.*153A>T) c.71T>A (p.Val24Asp) | |
| 11 | g.5254323T>C | CA379264153 | HBG2 | c.284A>G (p.Asp95Gly) c.119A>G (p.Asp40Gly) c.254A>G (p.Asp85Gly) c.*153A>G (n.*153A>G) c.71T>C (p.Val24Ala) | |
| 11 | g.5254323T>G | CA379264154 | HBG2 | c.284A>C (p.Asp95Ala) c.119A>C (p.Asp40Ala) c.254A>C (p.Asp85Ala) c.*153A>C (n.*153A>C) c.71T>G (p.Val24Gly) | |
| 11 | g.5254324C>A | CA379264155 | HBG2 | c.283G>T (p.Asp95Tyr) c.118G>T (p.Asp40Tyr) c.253G>T (p.Asp85Tyr) c.*152G>T (n.*152G>T) c.72C>A (p.Val24=) | |
| 11 | g.5254324C= | CA1949577271 | HBG2 | c.283G= (p.Asp95=) c.118G= (p.Asp40=) c.253G= (p.Asp85=) c.*152G= (n.*152G=) c.72C= (p.Val24=) | |
| 11 | g.5254324C>G | CA379264156 | HBG2 | c.283G>C (p.Asp95His) c.118G>C (p.Asp40His) c.253G>C (p.Asp85His) c.*152G>C (n.*152G>C) c.72C>G (p.Val24=) | |
| 11 | g.5254324C>T | CA124504 | HBG2 | c.283G>A (p.Asp95Asn) c.118G>A (p.Asp40Asn) c.253G>A (p.Asp85Asn) c.*152G>A (n.*152G>A) c.72C>T (p.Val24=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5254325A>C | CA379264157 | HBG2 | c.282T>G (p.Cys94Trp) c.117T>G (p.Cys39Trp) c.252T>G (p.Cys84Trp) c.*151T>G (n.*151T>G) c.73A>C (p.Thr25Pro) | |
| 11 | g.5254325A>G | CA379264158 | HBG2 | c.282T>C (p.Cys94=) c.117T>C (p.Cys39=) c.252T>C (p.Cys84=) c.*151T>C (n.*151T>C) c.73A>G (p.Thr25Ala) | dbSNP |
| 11 | g.5254325A>T | CA379264159 | HBG2 | c.282T>A (p.Cys94Ter) c.117T>A (p.Cys39Ter) c.252T>A (p.Cys84Ter) c.*151T>A (n.*151T>A) c.73A>T (p.Thr25Ser) | |
| 11 | g.5254326C>A | CA379264160 | HBG2 | c.281G>T (p.Cys94Phe) c.116G>T (p.Cys39Phe) c.251G>T (p.Cys84Phe) c.*150G>T (n.*150G>T) c.74C>A (p.Thr25Lys) | |
| 11 | g.5254326C>G | CA379264162 | HBG2 | c.281G>C (p.Cys94Ser) c.116G>C (p.Cys39Ser) c.251G>C (p.Cys84Ser) c.*150G>C (n.*150G>C) c.74C>G (p.Thr25Arg) | gnomAD v4 |
| 11 | g.5254326C>T | CA379264161 | HBG2 | c.281G>A (p.Cys94Tyr) c.116G>A (p.Cys39Tyr) c.251G>A (p.Cys84Tyr) c.*150G>A (n.*150G>A) c.74C>T (p.Thr25Ile) | |
| 11 | g.5254327A= | CA1949577277 | HBG2 | c.280T= (p.Cys94=) c.115T= (p.Cys39=) c.250T= (p.Cys84=) c.*149T= (n.*149T=) c.75A= (p.Thr25=) | |
| 11 | g.5254327A>C | CA379264163 | HBG2 | c.280T>G (p.Cys94Gly) c.115T>G (p.Cys39Gly) c.250T>G (p.Cys84Gly) c.*149T>G (n.*149T>G) c.75A>C (p.Thr25=) | |
| 11 | g.5254327A>G | CA217121215 | HBG2 | c.280T>C (p.Cys94Arg) c.115T>C (p.Cys39Arg) c.250T>C (p.Cys84Arg) c.*149T>C (n.*149T>C) c.75A>G (p.Thr25=) | dbSNP gnomAD v4 |
| 11 | g.5254327A>T | CA379264164 | HBG2 | c.280T>A (p.Cys94Ser) c.115T>A (p.Cys39Ser) c.250T>A (p.Cys84Ser) c.*149T>A (n.*149T>A) c.75A>T (p.Thr25=) | |
| 11 | g.5254328G>A | CA379264165 | HBG2 | c.279C>T (p.His93=) c.114C>T (p.His38=) c.249C>T (p.His83=) c.*148C>T (n.*148C>T) c.76G>A (p.Val26Met) | gnomAD v4 |
| 11 | g.5254328G>C | CA379264166 | HBG2 | c.279C>G (p.His93Gln) c.114C>G (p.His38Gln) c.249C>G (p.His83Gln) c.*148C>G (n.*148C>G) c.76G>C (p.Val26Leu) | |
| 11 | g.5254328G>T | CA379264167 | HBG2 | c.279C>A (p.His93Gln) c.114C>A (p.His38Gln) c.249C>A (p.His83Gln) c.*148C>A (n.*148C>A) c.76G>T (p.Val26Leu) | |
| 11 | g.5254329T>A | CA379264168 | HBG2 | c.278A>T (p.His93Leu) c.113A>T (p.His38Leu) c.248A>T (p.His83Leu) c.*147A>T (n.*147A>T) c.77T>A (p.Val26Glu) | |
| 11 | g.5254329T>C | CA379264169 | HBG2 | c.278A>G (p.His93Arg) c.113A>G (p.His38Arg) c.248A>G (p.His83Arg) c.*147A>G (n.*147A>G) c.77T>C (p.Val26Ala) | gnomAD v4 |
| 11 | g.5254329T>G | CA379264170 | HBG2 | c.278A>C (p.His93Pro) c.113A>C (p.His38Pro) c.248A>C (p.His83Pro) c.*147A>C (n.*147A>C) c.77T>G (p.Val26Gly) | |
| 11 | g.5254330G>A | CA124554 | HBG2 | c.277C>T (p.His93Tyr) c.112C>T (p.His38Tyr) c.247C>T (p.His83Tyr) c.*146C>T (n.*146C>T) c.78G>A (p.Val26=) | ClinVar dbSNP |
| 11 | g.5254330G>C | CA379264171 | HBG2 | c.277C>G (p.His93Asp) c.112C>G (p.His38Asp) c.247C>G (p.His83Asp) c.*146C>G (n.*146C>G) c.78G>C (p.Val26=) | |
| 11 | g.5254330G= | CA1949577281 | HBG2 | c.277C= (p.His93=) c.112C= (p.His38=) c.247C= (p.His83=) c.*146C= (n.*146C=) c.78G= (p.Val26=) | |
| 11 | g.5254330G>T | CA379264172 | HBG2 | c.277C>A (p.His93Asn) c.112C>A (p.His38Asn) c.247C>A (p.His83Asn) c.*146C>A (n.*146C>A) c.78G>T (p.Val26=) | |
| 11 | g.5254331C>A | CA379264175 | HBG2 | c.276G>T (p.Leu92=) c.111G>T (p.Leu37=) c.246G>T (p.Leu82=) c.*145G>T (n.*145G>T) c.79C>A (p.Gln27Lys) | |
| 11 | g.5254331C>G | CA379264173 | HBG2 | c.276G>C (p.Leu92=) c.111G>C (p.Leu37=) c.246G>C (p.Leu82=) c.*145G>C (n.*145G>C) c.79C>G (p.Gln27Glu) | |
| 11 | g.5254331C>T | CA379264174 | HBG2 | c.276G>A (p.Leu92=) c.111G>A (p.Leu37=) c.246G>A (p.Leu82=) c.*145G>A (n.*145G>A) c.79C>T (p.Gln27Ter) | |
| 11 | g.5254332A= | CA1949577286 | HBG2 | c.275T= (p.Leu92=) c.110T= (p.Leu37=) c.245T= (p.Leu82=) c.*144T= (n.*144T=) c.80A= (p.Gln27=) | |
| 11 | g.5254332A>C | CA379264176 | HBG2 | c.275T>G (p.Leu92Arg) c.110T>G (p.Leu37Arg) c.245T>G (p.Leu82Arg) c.*144T>G (n.*144T>G) c.80A>C (p.Gln27Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254332A>G | CA379264177 | HBG2 | c.275T>C (p.Leu92Pro) c.110T>C (p.Leu37Pro) c.245T>C (p.Leu82Pro) c.*144T>C (n.*144T>C) c.80A>G (p.Gln27Arg) | dbSNP |
| 11 | g.5254332A>T | CA379264178 | HBG2 | c.275T>A (p.Leu92Gln) c.110T>A (p.Leu37Gln) c.245T>A (p.Leu82Gln) c.*144T>A (n.*144T>A) c.80A>T (p.Gln27Leu) | |
| 11 | g.5254333G>A | CA472633862 | HBG2 | c.274C>T (p.Leu92=) c.109C>T (p.Leu37=) c.244C>T (p.Leu82=) c.*143C>T (n.*143C>T) c.81G>A (p.Gln27=) | |
| 11 | g.5254333G>C | CA379264179 | HBG2 | c.274C>G (p.Leu92Val) c.109C>G (p.Leu37Val) c.244C>G (p.Leu82Val) c.*143C>G (n.*143C>G) c.81G>C (p.Gln27His) | |
| 11 | g.5254333G>T | CA379264180 | HBG2 | c.274C>A (p.Leu92Met) c.109C>A (p.Leu37Met) c.244C>A (p.Leu82Met) c.*143C>A (n.*143C>A) c.81G>T (p.Gln27His) | |
| 11 | g.5254334T>A | CA379264181 | HBG2 | c.273A>T (p.Glu91Asp) c.108A>T (p.Glu36Asp) c.243A>T (p.Glu81Asp) c.*142A>T (n.*142A>T) c.82T>A (p.Phe28Ile) | |
| 11 | g.5254334T>C | CA379264182 | HBG2 | c.273A>G (p.Glu91=) c.108A>G (p.Glu36=) c.243A>G (p.Glu81=) c.*142A>G (n.*142A>G) c.82T>C (p.Phe28Leu) | dbSNP COSMIC |
| 11 | g.5254334T>G | CA379264183 | HBG2 | c.273A>C (p.Glu91Asp) c.108A>C (p.Glu36Asp) c.243A>C (p.Glu81Asp) c.*142A>C (n.*142A>C) c.82T>G (p.Phe28Val) | |
| 11 | g.5254334T= | CA1949577289 | HBG2 | c.273A= (p.Glu91=) c.108A= (p.Glu36=) c.243A= (p.Glu81=) c.*142A= (n.*142A=) c.82T= (p.Phe28=) | |
| 11 | g.5254335T>A | CA379264184 | HBG2 | c.272A>T (p.Glu91Val) c.107A>T (p.Glu36Val) c.242A>T (p.Glu81Val) c.*141A>T (n.*141A>T) c.83T>A (p.Phe28Tyr) | |
| 11 | g.5254335T>C | CA379264185 | HBG2 | c.272A>G (p.Glu91Gly) c.107A>G (p.Glu36Gly) c.242A>G (p.Glu81Gly) c.*141A>G (n.*141A>G) c.83T>C (p.Phe28Ser) | gnomAD v4 |
| 11 | g.5254335T>G | CA379264186 | HBG2 | c.272A>C (p.Glu91Ala) c.107A>C (p.Glu36Ala) c.242A>C (p.Glu81Ala) c.*141A>C (n.*141A>C) c.83T>G (p.Phe28Cys) | |
| 11 | g.5254336C>A | CA379264189 | HBG2 | c.271G>T (p.Glu91Ter) c.106G>T (p.Glu36Ter) c.241G>T (p.Glu81Ter) c.*140G>T (n.*140G>T) c.84C>A (p.Phe28Leu) | |
| 11 | g.5254336C>G | CA379264188 | HBG2 | c.271G>C (p.Glu91Gln) c.106G>C (p.Glu36Gln) c.241G>C (p.Glu81Gln) c.*140G>C (n.*140G>C) c.84C>G (p.Phe28Leu) | |
| 11 | g.5254336C>T | CA379264187 | HBG2 | c.271G>A (p.Glu91Lys) c.106G>A (p.Glu36Lys) c.241G>A (p.Glu81Lys) c.*140G>A (n.*140G>A) c.84C>T (p.Phe28=) | COSMIC |
| 11 | g.5254337A>C | CA379264190 | HBG2 | c.270T>G (p.Ser90Arg) c.105T>G (p.Ser35Arg) c.240T>G (p.Ser80Arg) c.*139T>G (n.*139T>G) c.85A>C (p.Thr29Pro) | |
| 11 | g.5254337A>G | CA379264192 | HBG2 | c.270T>C (p.Ser90=) c.105T>C (p.Ser35=) c.240T>C (p.Ser80=) c.*139T>C (n.*139T>C) c.85A>G (p.Thr29Ala) | |
| 11 | g.5254337A>T | CA379264191 | HBG2 | c.270T>A (p.Ser90Arg) c.105T>A (p.Ser35Arg) c.240T>A (p.Ser80Arg) c.*139T>A (n.*139T>A) c.85A>T (p.Thr29Ser) | |
| 11 | g.5254338C>A | CA379264193 | HBG2 | c.269G>T (p.Ser90Ile) c.104G>T (p.Ser35Ile) c.239G>T (p.Ser80Ile) c.*138G>T (n.*138G>T) c.86C>A (p.Thr29Asn) | |
| 11 | g.5254338C= | CA1949577294 | HBG2 | c.269G= (p.Ser90=) c.104G= (p.Ser35=) c.239G= (p.Ser80=) c.*138G= (n.*138G=) c.86C= (p.Thr29=) | |
| 11 | g.5254338C>G | CA5840255 | HBG2 | c.269G>C (p.Ser90Thr) c.104G>C (p.Ser35Thr) c.239G>C (p.Ser80Thr) c.*138G>C (n.*138G>C) c.86C>G (p.Thr29Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5254338C>T | CA379264194 | HBG2 | c.269G>A (p.Ser90Asn) c.104G>A (p.Ser35Asn) c.239G>A (p.Ser80Asn) c.*138G>A (n.*138G>A) c.86C>T (p.Thr29Ile) | COSMIC |
| 11 | g.5254339T>A | CA379264195 | HBG2 | c.268A>T (p.Ser90Cys) c.103A>T (p.Ser35Cys) c.238A>T (p.Ser80Cys) c.*137A>T (n.*137A>T) c.87T>A (p.Thr29=) | |
| 11 | g.5254339T>C | CA379264196 | HBG2 | c.268A>G (p.Ser90Gly) c.103A>G (p.Ser35Gly) c.238A>G (p.Ser80Gly) c.*137A>G (n.*137A>G) c.87T>C (p.Thr29=) | |
| 11 | g.5254339T>G | CA379264197 | HBG2 | c.268A>C (p.Ser90Arg) c.103A>C (p.Ser35Arg) c.238A>C (p.Ser80Arg) c.*137A>C (n.*137A>C) c.87T>G (p.Thr29=) | |
| 11 | g.5254340C>A | CA379264200 | HBG2 | c.267G>T (p.Leu89=) c.102G>T (p.Leu34=) c.237G>T (p.Leu79=) c.*136G>T (n.*136G>T) c.88C>A (p.Gln30Lys) | |
| 11 | g.5254340C>G | CA379264199 | HBG2 | c.267G>C (p.Leu89=) c.102G>C (p.Leu34=) c.237G>C (p.Leu79=) c.*136G>C (n.*136G>C) c.88C>G (p.Gln30Glu) | |
| 11 | g.5254340C>T | CA379264198 | HBG2 | c.267G>A (p.Leu89=) c.102G>A (p.Leu34=) c.237G>A (p.Leu79=) c.*136G>A (n.*136G>A) c.88C>T (p.Gln30Ter) | COSMIC |
| 11 | g.5254341A>C | CA379264201 | HBG2 | c.266T>G (p.Leu89Arg) c.101T>G (p.Leu34Arg) c.236T>G (p.Leu79Arg) c.*135T>G (n.*135T>G) c.89A>C (p.Gln30Pro) | |
| 11 | g.5254341A>G | CA379264202 | HBG2 | c.266T>C (p.Leu89Pro) c.101T>C (p.Leu34Pro) c.236T>C (p.Leu79Pro) c.*135T>C (n.*135T>C) c.89A>G (p.Gln30Arg) | |
| 11 | g.5254341A>T | CA379264203 | HBG2 | c.266T>A (p.Leu89Gln) c.101T>A (p.Leu34Gln) c.236T>A (p.Leu79Gln) c.*135T>A (n.*135T>A) c.89A>T (p.Gln30Leu) | |
| 11 | g.5254342G>A | CA472633901 | HBG2 | c.265C>T (p.Leu89=) c.100C>T (p.Leu34=) c.235C>T (p.Leu79=) c.*134C>T (n.*134C>T) c.90G>A (p.Gln30=) | gnomAD v4 |
| 11 | g.5254342G>C | CA379264204 | HBG2 | c.265C>G (p.Leu89Val) c.100C>G (p.Leu34Val) c.235C>G (p.Leu79Val) c.*134C>G (n.*134C>G) c.90G>C (p.Gln30His) | |
| 11 | g.5254342G>T | CA379264205 | HBG2 | c.265C>A (p.Leu89Met) c.100C>A (p.Leu34Met) c.235C>A (p.Leu79Met) c.*134C>A (n.*134C>A) c.90G>T (p.Gln30His) | |
| 11 | g.5254343C>A | CA379264206 | HBG2 | c.264G>T (p.Gln88His) c.99G>T (p.Gln33His) c.234G>T (p.Gln78His) c.*133G>T (n.*133G>T) c.91C>A (p.Leu31Met) | |
| 11 | g.5254343C>G | CA379264207 | HBG2 | c.264G>C (p.Gln88His) c.99G>C (p.Gln33His) c.234G>C (p.Gln78His) c.*133G>C (n.*133G>C) c.91C>G (p.Leu31Val) | |
| 11 | g.5254343C>T | CA472633907 | HBG2 | c.264G>A (p.Gln88=) c.99G>A (p.Gln33=) c.234G>A (p.Gln78=) c.*133G>A (n.*133G>A) c.91C>T (p.Leu31=) | COSMIC |
| 11 | g.5254344T>A | CA379264208 | HBG2 | c.263A>T (p.Gln88Leu) c.98A>T (p.Gln33Leu) c.233A>T (p.Gln78Leu) c.*132A>T (n.*132A>T) c.92T>A (p.Leu31Gln) | |
| 11 | g.5254344T>C | CA379264210 | HBG2 | c.263A>G (p.Gln88Arg) c.98A>G (p.Gln33Arg) c.233A>G (p.Gln78Arg) c.*132A>G (n.*132A>G) c.92T>C (p.Leu31Pro) | COSMIC |
| 11 | g.5254344T>G | CA379264209 | HBG2 | c.263A>C (p.Gln88Pro) c.98A>C (p.Gln33Pro) c.233A>C (p.Gln78Pro) c.*132A>C (n.*132A>C) c.92T>G (p.Leu31Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254344T= | CA1949577298 | HBG2 | c.263A= (p.Gln88=) c.98A= (p.Gln33=) c.233A= (p.Gln78=) c.*132A= (n.*132A=) c.92T= (p.Leu31=) | |
| 11 | g.5254345G>A | CA379264211 | HBG2 | c.262C>T (p.Gln88Ter) c.97C>T (p.Gln33Ter) c.232C>T (p.Gln78Ter) c.*131C>T (n.*131C>T) c.93G>A (p.Leu31=) | |
| 11 | g.5254345G>C | CA379264212 | HBG2 | c.262C>G (p.Gln88Glu) c.97C>G (p.Gln33Glu) c.232C>G (p.Gln78Glu) c.*131C>G (n.*131C>G) c.93G>C (p.Leu31=) | |
| 11 | g.5254345G>T | CA379264213 | HBG2 | c.262C>A (p.Gln88Lys) c.97C>A (p.Gln33Lys) c.232C>A (p.Gln78Lys) c.*131C>A (n.*131C>A) c.93G>T (p.Leu31=) | gnomAD v4 |
| 11 | g.5254346G>A | CA379264214 | HBG2 | c.261C>T (p.Ala87=) c.96C>T (p.Ala32=) c.231C>T (p.Ala77=) c.*130C>T (n.*130C>T) c.94G>A (p.Gly32Ser) | gnomAD v4 |
| 11 | g.5254346G>C | CA5840256 | HBG2 | c.261C>G (p.Ala87=) c.96C>G (p.Ala32=) c.231C>G (p.Ala77=) c.*130C>G (n.*130C>G) c.94G>C (p.Gly32Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254346G= | CA1949577301 | HBG2 | c.261C= (p.Ala87=) c.96C= (p.Ala32=) c.231C= (p.Ala77=) c.*130C= (n.*130C=) c.94G= (p.Gly32=) | |
| 11 | g.5254346G>T | CA379264215 | HBG2 | c.261C>A (p.Ala87=) c.96C>A (p.Ala32=) c.231C>A (p.Ala77=) c.*130C>A (n.*130C>A) c.94G>T (p.Gly32Cys) | |
| 11 | g.5254347G>A | CA5840257 | HBG2 | c.260C>T (p.Ala87Val) c.95C>T (p.Ala32Val) c.230C>T (p.Ala77Val) c.*129C>T (n.*129C>T) c.95G>A (p.Gly32Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.5254347G>C | CA379264216 | HBG2 | c.260C>G (p.Ala87Gly) c.95C>G (p.Ala32Gly) c.230C>G (p.Ala77Gly) c.*129C>G (n.*129C>G) c.95G>C (p.Gly32Ala) | |
| 11 | g.5254347G= | CA1949577305 | HBG2 | c.260C= (p.Ala87=) c.95C= (p.Ala32=) c.230C= (p.Ala77=) c.*129C= (n.*129C=) c.95G= (p.Gly32=) | |
| 11 | g.5254347G>T | CA379264217 | HBG2 | c.260C>A (p.Ala87Asp) c.95C>A (p.Ala32Asp) c.230C>A (p.Ala77Asp) c.*129C>A (n.*129C>A) c.95G>T (p.Gly32Val) | |
| 11 | g.5254348C>A | CA379264218 | HBG2 | c.259G>T (p.Ala87Ser) c.94G>T (p.Ala32Ser) c.229G>T (p.Ala77Ser) c.*128G>T (n.*128G>T) c.96C>A (p.Gly32=) | |
| 11 | g.5254348C= | CA1949577307 | HBG2 | c.259G= (p.Ala87=) c.94G= (p.Ala32=) c.229G= (p.Ala77=) c.*128G= (n.*128G=) c.96C= (p.Gly32=) | |
| 11 | g.5254348C>G | CA379264219 | HBG2 | c.259G>C (p.Ala87Pro) c.94G>C (p.Ala32Pro) c.229G>C (p.Ala77Pro) c.*128G>C (n.*128G>C) c.96C>G (p.Gly32=) | |
| 11 | g.5254348C>T | CA5840258 | HBG2 | c.259G>A (p.Ala87Thr) c.94G>A (p.Ala32Thr) c.229G>A (p.Ala77Thr) c.*128G>A (n.*128G>A) c.96C>T (p.Gly32=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5254349A>C | CA379264220 | HBG2 | c.258T>G (p.Phe86Leu) c.93T>G (p.Phe31Leu) c.228T>G (p.Phe76Leu) c.*127T>G (n.*127T>G) c.97A>C (p.Lys33Gln) | |
| 11 | g.5254349A>G | CA379264222 | HBG2 | c.258T>C (p.Phe86=) c.93T>C (p.Phe31=) c.228T>C (p.Phe76=) c.*127T>C (n.*127T>C) c.97A>G (p.Lys33Glu) | |
| 11 | g.5254349A>T | CA379264221 | HBG2 | c.258T>A (p.Phe86Leu) c.93T>A (p.Phe31Leu) c.228T>A (p.Phe76Leu) c.*127T>A (n.*127T>A) c.97A>T (p.Lys33Ter) | |
| 11 | g.5254350A>C | CA379264223 | HBG2 | c.257T>G (p.Phe86Cys) c.92T>G (p.Phe31Cys) c.227T>G (p.Phe76Cys) c.*126T>G (n.*126T>G) c.98A>C (p.Lys33Thr) | |
| 11 | g.5254350A>G | CA379264224 | HBG2 | c.257T>C (p.Phe86Ser) c.92T>C (p.Phe31Ser) c.227T>C (p.Phe76Ser) c.*126T>C (n.*126T>C) c.98A>G (p.Lys33Arg) | |
| 11 | g.5254350A>T | CA379264225 | HBG2 | c.257T>A (p.Phe86Tyr) c.92T>A (p.Phe31Tyr) c.227T>A (p.Phe76Tyr) c.*126T>A (n.*126T>A) c.98A>T (p.Lys33Ile) | |
| 11 | g.5254351A>C | CA379264226 | HBG2 | c.256T>G (p.Phe86Val) c.91T>G (p.Phe31Val) c.226T>G (p.Phe76Val) c.*125T>G (n.*125T>G) c.99A>C (p.Lys33Asn) | |
| 11 | g.5254351A>G | CA379264227 | HBG2 | c.256T>C (p.Phe86Leu) c.91T>C (p.Phe31Leu) c.226T>C (p.Phe76Leu) c.*125T>C (n.*125T>C) c.99A>G (p.Lys33=) | |
| 11 | g.5254351A>T | CA379264228 | HBG2 | c.256T>A (p.Phe86Ile) c.91T>A (p.Phe31Ile) c.226T>A (p.Phe76Ile) c.*125T>A (n.*125T>A) c.99A>T (p.Lys33Asn) | |
| 11 | g.5254352G>A | CA379264229 | HBG2 | c.255C>T (p.Thr85=) c.90C>T (p.Thr30=) c.225C>T (p.Thr75=) c.*124C>T (n.*124C>T) c.100G>A (p.Gly34Ser) | |
| 11 | g.5254352G>C | CA379264230 | HBG2 | c.255C>G (p.Thr85=) c.90C>G (p.Thr30=) c.225C>G (p.Thr75=) c.*124C>G (n.*124C>G) c.100G>C (p.Gly34Arg) | |
| 11 | g.5254352G>T | CA379264231 | HBG2 | c.255C>A (p.Thr85=) c.90C>A (p.Thr30=) c.225C>A (p.Thr75=) c.*124C>A (n.*124C>A) c.100G>T (p.Gly34Cys) | |
| 11 | g.5254353G>A | CA379264232 | HBG2 | c.254C>T (p.Thr85Ile) c.89C>T (p.Thr30Ile) c.224C>T (p.Thr75Ile) c.*123C>T (n.*123C>T) c.101G>A (p.Gly34Asp) | gnomAD v4 |
| 11 | g.5254353G>C | CA379264233 | HBG2 | c.254C>G (p.Thr85Ser) c.89C>G (p.Thr30Ser) c.224C>G (p.Thr75Ser) c.*123C>G (n.*123C>G) c.101G>C (p.Gly34Ala) | |
| 11 | g.5254353G>T | CA379264234 | HBG2 | c.254C>A (p.Thr85Asn) c.89C>A (p.Thr30Asn) c.224C>A (p.Thr75Asn) c.*123C>A (n.*123C>A) c.101G>T (p.Gly34Val) | |
| 11 | g.5254354T>A | CA379264237 | HBG2 | c.253A>T (p.Thr85Ser) c.88A>T (p.Thr30Ser) c.223A>T (p.Thr75Ser) c.*122A>T (n.*122A>T) c.102T>A (p.Gly34=) | |
| 11 | g.5254354T>C | CA379264236 | HBG2 | c.253A>G (p.Thr85Ala) c.88A>G (p.Thr30Ala) c.223A>G (p.Thr75Ala) c.*122A>G (n.*122A>G) c.102T>C (p.Gly34=) | |
| 11 | g.5254354T>G | CA379264235 | HBG2 | c.253A>C (p.Thr85Pro) c.88A>C (p.Thr30Pro) c.223A>C (p.Thr75Pro) c.*122A>C (n.*122A>C) c.102T>G (p.Gly34=) | |
| 11 | g.5254355G>A | CA5840259 | HBG2 | c.252C>T (p.Gly84=) c.87C>T (p.Gly29=) c.222C>T (p.Gly74=) c.*121C>T (n.*121C>T) c.103G>A (p.Ala35Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254355G>C | CA379264238 | HBG2 | c.252C>G (p.Gly84=) c.87C>G (p.Gly29=) c.222C>G (p.Gly74=) c.*121C>G (n.*121C>G) c.103G>C (p.Ala35Pro) | COSMIC |
| 11 | g.5254355G= | CA1949577312 | HBG2 | c.252C= (p.Gly84=) c.87C= (p.Gly29=) c.222C= (p.Gly74=) c.*121C= (n.*121C=) c.103G= (p.Ala35=) | |
| 11 | g.5254355G>T | CA379264239 | HBG2 | c.252C>A (p.Gly84=) c.87C>A (p.Gly29=) c.222C>A (p.Gly74=) c.*121C>A (n.*121C>A) c.103G>T (p.Ala35Ser) | |
| 11 | g.5254356C>A | CA379264240 | HBG2 | c.251G>T (p.Gly84Val) c.86G>T (p.Gly29Val) c.221G>T (p.Gly74Val) c.*120G>T (n.*120G>T) c.104C>A (p.Ala35Asp) | |
| 11 | g.5254356C>G | CA379264241 | HBG2 | c.251G>C (p.Gly84Ala) c.86G>C (p.Gly29Ala) c.221G>C (p.Gly74Ala) c.*120G>C (n.*120G>C) c.104C>G (p.Ala35Gly) | |
| 11 | g.5254356C>T | CA379264242 | HBG2 | c.251G>A (p.Gly84Asp) c.86G>A (p.Gly29Asp) c.221G>A (p.Gly74Asp) c.*120G>A (n.*120G>A) c.104C>T (p.Ala35Val) | gnomAD v4 |
| 11 | g.5254357C>A | CA379264243 | HBG2 | c.250G>T (p.Gly84Cys) c.85G>T (p.Gly29Cys) c.220G>T (p.Gly74Cys) c.*119G>T (n.*119G>T) c.105C>A (p.Ala35=) | |
| 11 | g.5254357C>G | CA379264244 | HBG2 | c.250G>C (p.Gly84Arg) c.85G>C (p.Gly29Arg) c.220G>C (p.Gly74Arg) c.*119G>C (n.*119G>C) c.105C>G (p.Ala35=) | |
| 11 | g.5254357C>T | CA379264245 | HBG2 | c.250G>A (p.Gly84Ser) c.85G>A (p.Gly29Ser) c.220G>A (p.Gly74Ser) c.*119G>A (n.*119G>A) c.105C>T (p.Ala35=) | gnomAD v4 COSMIC |
| 11 | g.5254358C>A | CA379264246 | HBG2 | c.249G>T (p.Lys83Asn) c.84G>T (p.Lys28Asn) c.219G>T (p.Lys73Asn) c.*118G>T (n.*118G>T) c.106C>A (p.Leu36Ile) | |
| 11 | g.5254358C= | CA1949577316 | HBG2 | c.249G= (p.Lys83=) c.84G= (p.Lys28=) c.219G= (p.Lys73=) c.*118G= (n.*118G=) c.106C= (p.Leu36=) | |
| 11 | g.5254358C>G | CA379264247 | HBG2 | c.249G>C (p.Lys83Asn) c.84G>C (p.Lys28Asn) c.219G>C (p.Lys73Asn) c.*118G>C (n.*118G>C) c.106C>G (p.Leu36Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5254358C>T | CA379264248 | HBG2 | c.249G>A (p.Lys83=) c.84G>A (p.Lys28=) c.219G>A (p.Lys73=) c.*118G>A (n.*118G>A) c.106C>T (p.Leu36Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.5254359T>A | CA379264251 | HBG2 | c.248A>T (p.Lys83Met) c.83A>T (p.Lys28Met) c.218A>T (p.Lys73Met) c.*117A>T (n.*117A>T) c.107T>A (p.Leu36His) | |
| 11 | g.5254359T>C | CA379264249 | HBG2 | c.248A>G (p.Lys83Arg) c.83A>G (p.Lys28Arg) c.218A>G (p.Lys73Arg) c.*117A>G (n.*117A>G) c.107T>C (p.Leu36Pro) | |
| 11 | g.5254359T>G | CA379264250 | HBG2 | c.248A>C (p.Lys83Thr) c.83A>C (p.Lys28Thr) c.218A>C (p.Lys73Thr) c.*117A>C (n.*117A>C) c.107T>G (p.Leu36Arg) | |
| 11 | g.5254360T>A | CA379264252 | HBG2 | c.247A>T (p.Lys83Ter) c.82A>T (p.Lys28Ter) c.217A>T (p.Lys73Ter) c.*116A>T (n.*116A>T) c.108T>A (p.Leu36=) | |
| 11 | g.5254360T>C | CA379264253 | HBG2 | c.247A>G (p.Lys83Glu) c.82A>G (p.Lys28Glu) c.217A>G (p.Lys73Glu) c.*116A>G (n.*116A>G) c.108T>C (p.Leu36=) | |
| 11 | g.5254360T>G | CA379264254 | HBG2 | c.247A>C (p.Lys83Gln) c.82A>C (p.Lys28Gln) c.217A>C (p.Lys73Gln) c.*116A>C (n.*116A>C) c.108T>G (p.Leu36=) | gnomAD v4 |
| 11 | g.5254361G>A | CA379264255 | HBG2 | c.246C>T (p.Leu82=) c.81C>T (p.Leu27=) c.216C>T (p.Leu72=) c.*115C>T (n.*115C>T) c.109G>A (p.Glu37Lys) | gnomAD v4 |
| 11 | g.5254361G>C | CA5840260 | HBG2 | c.246C>G (p.Leu82=) c.81C>G (p.Leu27=) c.216C>G (p.Leu72=) c.*115C>G (n.*115C>G) c.109G>C (p.Glu37Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254361G= | CA1949577319 | HBG2 | c.246C= (p.Leu82=) c.81C= (p.Leu27=) c.216C= (p.Leu72=) c.*115C= (n.*115C=) c.109G= (p.Glu37=) | |
| 11 | g.5254361G>T | CA379264256 | HBG2 | c.246C>A (p.Leu82=) c.81C>A (p.Leu27=) c.216C>A (p.Leu72=) c.*115C>A (n.*115C>A) c.109G>T (p.Glu37Ter) | |
| 11 | g.5254362A>C | CA379264259 | HBG2 | c.245T>G (p.Leu82Arg) c.80T>G (p.Leu27Arg) c.215T>G (p.Leu72Arg) c.*114T>G (n.*114T>G) c.110A>C (p.Glu37Ala) | |
| 11 | g.5254362A>G | CA379264258 | HBG2 | c.245T>C (p.Leu82Pro) c.80T>C (p.Leu27Pro) c.215T>C (p.Leu72Pro) c.*114T>C (n.*114T>C) c.110A>G (p.Glu37Gly) | |
| 11 | g.5254362A>T | CA379264257 | HBG2 | c.245T>A (p.Leu82His) c.80T>A (p.Leu27His) c.215T>A (p.Leu72His) c.*114T>A (n.*114T>A) c.110A>T (p.Glu37Val) | |
| 11 | g.5254363G>A | CA379264260 | HBG2 | c.244C>T (p.Leu82Phe) c.79C>T (p.Leu27Phe) c.214C>T (p.Leu72Phe) c.*113C>T (n.*113C>T) c.111G>A (p.Glu37=) | |
| 11 | g.5254363G>C | CA379264261 | HBG2 | c.244C>G (p.Leu82Val) c.79C>G (p.Leu27Val) c.214C>G (p.Leu72Val) c.*113C>G (n.*113C>G) c.111G>C (p.Glu37Asp) | |
| 11 | g.5254363G>T | CA379264262 | HBG2 | c.244C>A (p.Leu82Ile) c.79C>A (p.Leu27Ile) c.214C>A (p.Leu72Ile) c.*113C>A (n.*113C>A) c.111G>T (p.Glu37Asp) | COSMIC |
| 11 | g.5254364A>C | CA379264263 | HBG2 | c.243T>G (p.Asp81Glu) c.78T>G (p.Asp26Glu) c.213T>G (p.Asp71Glu) c.*112T>G (n.*112T>G) c.112A>C (p.Ile38Leu) | |
| 11 | g.5254364A>G | CA379264264 | HBG2 | c.243T>C (p.Asp81=) c.78T>C (p.Asp26=) c.213T>C (p.Asp71=) c.*112T>C (n.*112T>C) c.112A>G (p.Ile38Val) | |
| 11 | g.5254364A>T | CA379264265 | HBG2 | c.243T>A (p.Asp81Glu) c.78T>A (p.Asp26Glu) c.213T>A (p.Asp71Glu) c.*112T>A (n.*112T>A) c.112A>T (p.Ile38Phe) | gnomAD v4 |
| 11 | g.5254365T>A | CA379264266 | HBG2 | c.242A>T (p.Asp81Val) c.77A>T (p.Asp26Val) c.212A>T (p.Asp71Val) c.*111A>T (n.*111A>T) c.113T>A (p.Ile38Asn) | gnomAD v4 |
| 11 | g.5254365T>C | CA379264268 | HBG2 | c.242A>G (p.Asp81Gly) c.77A>G (p.Asp26Gly) c.212A>G (p.Asp71Gly) c.*111A>G (n.*111A>G) c.113T>C (p.Ile38Thr) | |
| 11 | g.5254365T>G | CA379264267 | HBG2 | c.242A>C (p.Asp81Ala) c.77A>C (p.Asp26Ala) c.212A>C (p.Asp71Ala) c.*111A>C (n.*111A>C) c.113T>G (p.Ile38Ser) | |
| 11 | g.5254366C>A | CA217121234 | HBG2 | c.241G>T (p.Asp81Tyr) c.76G>T (p.Asp26Tyr) c.211G>T (p.Asp71Tyr) c.*110G>T (n.*110G>T) c.114C>A (p.Ile38=) | dbSNP gnomAD v4 |
| 11 | g.5254366C= | CA1949577323 | HBG2 | c.241G= (p.Asp81=) c.76G= (p.Asp26=) c.211G= (p.Asp71=) c.*110G= (n.*110G=) c.114C= (p.Ile38=) | |
| 11 | g.5254366C>G | CA217121237 | HBG2 | c.241G>C (p.Asp81His) c.76G>C (p.Asp26His) c.211G>C (p.Asp71His) c.*110G>C (n.*110G>C) c.114C>G (p.Ile38Met) | dbSNP |
| 11 | g.5254366C>T | CA124522 | HBG2 | c.241G>A (p.Asp81Asn) c.76G>A (p.Asp26Asn) c.211G>A (p.Asp71Asn) c.*110G>A (n.*110G>A) c.114C>T (p.Ile38=) | ClinVar dbSNP |
| 11 | g.5254367A= | CA1949577333 | HBG2 | c.240T= (p.Asp80=) c.75T= (p.Asp25=) c.210T= (p.Asp70=) c.*109T= (n.*109T=) c.115A= (p.Ile39=) | |
| 11 | g.5254367A>C | CA379264269 | HBG2 | c.240T>G (p.Asp80Glu) c.75T>G (p.Asp25Glu) c.210T>G (p.Asp70Glu) c.*109T>G (n.*109T>G) c.115A>C (p.Ile39Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254367A>G | CA379264270 | HBG2 | c.240T>C (p.Asp80=) c.75T>C (p.Asp25=) c.210T>C (p.Asp70=) c.*109T>C (n.*109T>C) c.115A>G (p.Ile39Val) | |
| 11 | g.5254367A>T | CA379264271 | HBG2 | c.240T>A (p.Asp80Glu) c.75T>A (p.Asp25Glu) c.210T>A (p.Asp70Glu) c.*109T>A (n.*109T>A) c.115A>T (p.Ile39Phe) | |
| 11 | g.5254368T>A | CA379264272 | HBG2 | c.239A>T (p.Asp80Val) c.74A>T (p.Asp25Val) c.209A>T (p.Asp70Val) c.*108A>T (n.*108A>T) c.116T>A (p.Ile39Asn) | |
| 11 | g.5254368T>C | CA379264273 | HBG2 | c.239A>G (p.Asp80Gly) c.74A>G (p.Asp25Gly) c.209A>G (p.Asp70Gly) c.*108A>G (n.*108A>G) c.116T>C (p.Ile39Thr) | gnomAD v4 |
| 11 | g.5254368T>G | CA379264274 | HBG2 | c.239A>C (p.Asp80Ala) c.74A>C (p.Asp25Ala) c.209A>C (p.Asp70Ala) c.*108A>C (n.*108A>C) c.116T>G (p.Ile39Ser) | |
| 11 | g.5254369C>A | CA379264275 | HBG2 | c.238G>T (p.Asp80Tyr) c.73G>T (p.Asp25Tyr) c.208G>T (p.Asp70Tyr) c.*107G>T (n.*107G>T) c.117C>A (p.Ile39=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254369C= | CA1949577337 | HBG2 | c.238G= (p.Asp80=) c.73G= (p.Asp25=) c.208G= (p.Asp70=) c.*107G= (n.*107G=) c.117C= (p.Ile39=) | |
| 11 | g.5254369C>G | CA5840261 | HBG2 | c.238G>C (p.Asp80His) c.73G>C (p.Asp25His) c.208G>C (p.Asp70His) c.*107G>C (n.*107G>C) c.117C>G (p.Ile39Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5254369C>T | CA379264276 | HBG2 | c.238G>A (p.Asp80Asn) c.73G>A (p.Asp25Asn) c.208G>A (p.Asp70Asn) c.*107G>A (n.*107G>A) c.117C>T (p.Ile39=) | gnomAD v4 |
| 11 | g.5254370C>A | CA379264277 | HBG2 | c.237G>T (p.Leu79=) c.72G>T (p.Leu24=) c.207G>T (p.Leu69=) c.*106G>T (n.*106G>T) c.118C>A (p.Gln40Lys) | |
| 11 | g.5254370C= | CA1949577341 | HBG2 | c.237G= (p.Leu79=) c.72G= (p.Leu24=) c.207G= (p.Leu69=) c.*106G= (n.*106G=) c.118C= (p.Gln40=) | |
| 11 | g.5254370C>G | CA217121245 | HBG2 | c.237G>C (p.Leu79=) c.72G>C (p.Leu24=) c.207G>C (p.Leu69=) c.*106G>C (n.*106G>C) c.118C>G (p.Gln40Glu) | dbSNP |
| 11 | g.5254370C>T | CA379264278 | HBG2 | c.237G>A (p.Leu79=) c.72G>A (p.Leu24=) c.207G>A (p.Leu69=) c.*106G>A (n.*106G>A) c.118C>T (p.Gln40Ter) | |
| 11 | g.5254371A>C | CA379264279 | HBG2 | c.236T>G (p.Leu79Arg) c.71T>G (p.Leu24Arg) c.206T>G (p.Leu69Arg) c.*105T>G (n.*105T>G) c.119A>C (p.Gln40Pro) | |
| 11 | g.5254371A>G | CA379264280 | HBG2 | c.236T>C (p.Leu79Pro) c.71T>C (p.Leu24Pro) c.206T>C (p.Leu69Pro) c.*105T>C (n.*105T>C) c.119A>G (p.Gln40Arg) | gnomAD v4 |
| 11 | g.5254371A>T | CA379264281 | HBG2 | c.236T>A (p.Leu79Gln) c.71T>A (p.Leu24Gln) c.206T>A (p.Leu69Gln) c.*105T>A (n.*105T>A) c.119A>T (p.Gln40Leu) | |
| 11 | g.5254372G>A | CA5840262 | HBG2 | c.235C>T (p.Leu79=) c.70C>T (p.Leu24=) c.205C>T (p.Leu69=) c.*104C>T (n.*104C>T) c.120G>A (p.Gln40=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5254372G>C | CA379264282 | HBG2 | c.235C>G (p.Leu79Val) c.70C>G (p.Leu24Val) c.205C>G (p.Leu69Val) c.*104C>G (n.*104C>G) c.120G>C (p.Gln40His) | |
| 11 | g.5254372G= | CA1949577344 | HBG2 | c.235C= (p.Leu79=) c.70C= (p.Leu24=) c.205C= (p.Leu69=) c.*104C= (n.*104C=) c.120G= (p.Gln40=) | |
| 11 | g.5254372G>T | CA379264283 | HBG2 | c.235C>A (p.Leu79Met) c.70C>A (p.Leu24Met) c.205C>A (p.Leu69Met) c.*104C>A (n.*104C>A) c.120G>T (p.Gln40His) | |
| 11 | g.5254373G>A | CA379264284 | HBG2 | c.234C>T (p.His78=) c.69C>T (p.His23=) c.204C>T (p.His68=) c.*103C>T (n.*103C>T) c.121G>A (p.Val41Met) | dbSNP gnomAD v2 |
| 11 | g.5254373G>C | CA379264285 | HBG2 | c.234C>G (p.His78Gln) c.69C>G (p.His23Gln) c.204C>G (p.His68Gln) c.*103C>G (n.*103C>G) c.121G>C (p.Val41Leu) | gnomAD v4 |
| 11 | g.5254373G= | CA1949577346 | HBG2 | c.234C= (p.His78=) c.69C= (p.His23=) c.204C= (p.His68=) c.*103C= (n.*103C=) c.121G= (p.Val41=) | |
| 11 | g.5254373G>T | CA379264286 | HBG2 | c.234C>A (p.His78Gln) c.69C>A (p.His23Gln) c.204C>A (p.His68Gln) c.*103C>A (n.*103C>A) c.121G>T (p.Val41Leu) | |
| 11 | g.5254374T>A | CA217121251 | HBG2 | c.233A>T (p.His78Leu) c.68A>T (p.His23Leu) c.203A>T (p.His68Leu) c.*102A>T (n.*102A>T) c.122T>A (p.Val41Glu) | dbSNP |
| 11 | g.5254374T>C | CA124510 | HBG2 | c.233A>G (p.His78Arg) c.68A>G (p.His23Arg) c.203A>G (p.His68Arg) c.*102A>G (n.*102A>G) c.122T>C (p.Val41Ala) | ClinVar dbSNP |
| 11 | g.5254374T>G | CA379264287 | HBG2 | c.233A>C (p.His78Pro) c.68A>C (p.His23Pro) c.203A>C (p.His68Pro) c.*102A>C (n.*102A>C) c.122T>G (p.Val41Gly) | |
| 11 | g.5254374T= | CA1949577351 | HBG2 | c.233A= (p.His78=) c.68A= (p.His23=) c.203A= (p.His68=) c.*102A= (n.*102A=) c.122T= (p.Val41=) | |
| 11 | g.5254375G>A | CA379264289 | HBG2 | c.232C>T (p.His78Tyr) c.67C>T (p.His23Tyr) c.202C>T (p.His68Tyr) c.*101C>T (n.*101C>T) c.123G>A (p.Val41=) | gnomAD v4 |
| 11 | g.5254375G>C | CA379264288 | HBG2 | c.232C>G (p.His78Asp) c.67C>G (p.His23Asp) c.202C>G (p.His68Asp) c.*101C>G (n.*101C>G) c.123G>C (p.Val41=) | |
| 11 | g.5254375G= | CA1949577357 | HBG2 | c.232C= (p.His78=) c.67C= (p.His23=) c.202C= (p.His68=) c.*101C= (n.*101C=) c.123G= (p.Val41=) | |
| 11 | g.5254375G>T | CA5840263 | HBG2 | c.232C>A (p.His78Asn) c.67C>A (p.His23Asn) c.202C>A (p.His68Asn) c.*101C>A (n.*101C>A) c.123G>T (p.Val41=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254376C>A | CA379264290 | HBG2 | c.231G>T (p.Lys77Asn) c.66G>T (p.Lys22Asn) c.201G>T (p.Lys67Asn) c.*100G>T (n.*100G>T) c.124C>A (p.Leu42Ile) | |
| 11 | g.5254376C>G | CA379264291 | HBG2 | c.231G>C (p.Lys77Asn) c.66G>C (p.Lys22Asn) c.201G>C (p.Lys67Asn) c.*100G>C (n.*100G>C) c.124C>G (p.Leu42Val) | |
| 11 | g.5254376C>T | CA379264292 | HBG2 | c.231G>A (p.Lys77=) c.66G>A (p.Lys22=) c.201G>A (p.Lys67=) c.*100G>A (n.*100G>A) c.124C>T (p.Leu42Phe) | |
| 11 | g.5254377T>A | CA379264293 | HBG2 | c.230A>T (p.Lys77Met) c.65A>T (p.Lys22Met) c.200A>T (p.Lys67Met) c.*99A>T (n.*99A>T) c.125T>A (p.Leu42His) | |
| 11 | g.5254377T>C | CA379264294 | HBG2 | c.230A>G (p.Lys77Arg) c.65A>G (p.Lys22Arg) c.200A>G (p.Lys67Arg) c.*99A>G (n.*99A>G) c.125T>C (p.Leu42Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254377T>G | CA379264295 | HBG2 | c.230A>C (p.Lys77Thr) c.65A>C (p.Lys22Thr) c.200A>C (p.Lys67Thr) c.*99A>C (n.*99A>C) c.125T>G (p.Leu42Arg) | |
| 11 | g.5254377T= | CA1949577360 | HBG2 | c.230A= (p.Lys77=) c.65A= (p.Lys22=) c.200A= (p.Lys67=) c.*99A= (n.*99A=) c.125T= (p.Leu42=) | |
| 11 | g.5254378T>A | CA379264296 | HBG2 | c.229A>T (p.Lys77Ter) c.64A>T (p.Lys22Ter) c.199A>T (p.Lys67Ter) c.*98A>T (n.*98A>T) c.126T>A (p.Leu42=) | |
| 11 | g.5254378T>C | CA379264297 | HBG2 | c.229A>G (p.Lys77Glu) c.64A>G (p.Lys22Glu) c.199A>G (p.Lys67Glu) c.*98A>G (n.*98A>G) c.126T>C (p.Leu42=) | |
| 11 | g.5254378T>G | CA379264298 | HBG2 | c.229A>C (p.Lys77Gln) c.64A>C (p.Lys22Gln) c.199A>C (p.Lys67Gln) c.*98A>C (n.*98A>C) c.126T>G (p.Leu42=) | |
| 11 | g.5254379T>A | CA379264299 | HBG2 | c.228A>T (p.Ile76=) c.63A>T (p.Ile21=) c.198A>T (p.Ile66=) c.*97A>T (n.*97A>T) c.127T>A (p.Tyr43Asn) | |
| 11 | g.5254379T>C | CA379264300 | HBG2 | c.228A>G (p.Ile76Met) c.63A>G (p.Ile21Met) c.198A>G (p.Ile66Met) c.*97A>G (n.*97A>G) c.127T>C (p.Tyr43His) | |
| 11 | g.5254379T>G | CA379264301 | HBG2 | c.228A>C (p.Ile76=) c.63A>C (p.Ile21=) c.198A>C (p.Ile66=) c.*97A>C (n.*97A>C) c.127T>G (p.Tyr43Asp) | |
| 11 | g.5254380A= | CA1949577364 | HBG2 | c.227T= (p.Ile76=) c.62T= (p.Ile21=) c.197T= (p.Ile66=) c.*96T= (n.*96T=) c.128A= (p.Tyr43=) | |
| 11 | g.5254380A>C | CA379264302 | HBG2 | c.227T>G (p.Ile76Arg) c.62T>G (p.Ile21Arg) c.197T>G (p.Ile66Arg) c.*96T>G (n.*96T>G) c.128A>C (p.Tyr43Ser) | |
| 11 | g.5254380A>G | CA124562 | HBG2 | c.227T>C (p.Ile76Thr) c.62T>C (p.Ile21Thr) c.197T>C (p.Ile66Thr) c.*96T>C (n.*96T>C) c.128A>G (p.Tyr43Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254380A>T | CA379264303 | HBG2 | c.227T>A (p.Ile76Lys) c.62T>A (p.Ile21Lys) c.197T>A (p.Ile66Lys) c.*96T>A (n.*96T>A) c.128A>T (p.Tyr43Phe) | |
| 11 | g.5254381T>A | CA379264304 | HBG2 | c.226A>T (p.Ile76Leu) c.61A>T (p.Ile21Leu) c.196A>T (p.Ile66Leu) c.*95A>T (n.*95A>T) c.129T>A (p.Tyr43Ter) | |
| 11 | g.5254381T>C | CA5840264 | HBG2 | c.226A>G (p.Ile76Val) c.61A>G (p.Ile21Val) c.196A>G (p.Ile66Val) c.*95A>G (n.*95A>G) c.129T>C (p.Tyr43=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254381T>G | CA379264305 | HBG2 | c.226A>C (p.Ile76Leu) c.61A>C (p.Ile21Leu) c.196A>C (p.Ile66Leu) c.*95A>C (n.*95A>C) c.129T>G (p.Tyr43Ter) | |
| 11 | g.5254381T= | CA1949577372 | HBG2 | c.226A= (p.Ile76=) c.61A= (p.Ile21=) c.196A= (p.Ile66=) c.*95A= (n.*95A=) c.129T= (p.Tyr43=) | |
| 11 | g.5254382G>A | CA379264306 | HBG2 | c.225C>T (p.Ala75=) c.60C>T (p.Ala20=) c.195C>T (p.Ala65=) c.*94C>T (n.*94C>T) c.130G>A (p.Gly44Ser) | |
| 11 | g.5254382G>C | CA379264308 | HBG2 | c.225C>G (p.Ala75=) c.60C>G (p.Ala20=) c.195C>G (p.Ala65=) c.*94C>G (n.*94C>G) c.130G>C (p.Gly44Arg) | |
| 11 | g.5254382G>T | CA379264307 | HBG2 | c.225C>A (p.Ala75=) c.60C>A (p.Ala20=) c.195C>A (p.Ala65=) c.*94C>A (n.*94C>A) c.130G>T (p.Gly44Cys) | |
| 11 | g.5254383G>A | CA379264309 | HBG2 | c.224C>T (p.Ala75Val) c.59C>T (p.Ala20Val) c.194C>T (p.Ala65Val) c.*93C>T (n.*93C>T) c.131G>A (p.Gly44Asp) | gnomAD v4 COSMIC |
| 11 | g.5254383G>C | CA379264310 | HBG2 | c.224C>G (p.Ala75Gly) c.59C>G (p.Ala20Gly) c.194C>G (p.Ala65Gly) c.*93C>G (n.*93C>G) c.131G>C (p.Gly44Ala) | gnomAD v4 |
| 11 | g.5254383G>T | CA379264311 | HBG2 | c.224C>A (p.Ala75Asp) c.59C>A (p.Ala20Asp) c.194C>A (p.Ala65Asp) c.*93C>A (n.*93C>A) c.131G>T (p.Gly44Val) | gnomAD v4 |
| 11 | g.5254384C>A | CA379264312 | HBG2 | c.223G>T (p.Ala75Ser) c.58G>T (p.Ala20Ser) c.193G>T (p.Ala65Ser) c.*92G>T (n.*92G>T) c.132C>A (p.Gly44=) | |
| 11 | g.5254384C>G | CA379264313 | HBG2 | c.223G>C (p.Ala75Pro) c.58G>C (p.Ala20Pro) c.193G>C (p.Ala65Pro) c.*92G>C (n.*92G>C) c.132C>G (p.Gly44=) | gnomAD v4 |
| 11 | g.5254384C>T | CA379264314 | HBG2 | c.223G>A (p.Ala75Thr) c.58G>A (p.Ala20Thr) c.193G>A (p.Ala65Thr) c.*92G>A (n.*92G>A) c.132C>T (p.Gly44=) | gnomAD v4 |
| 11 | g.5254385A= | CA1949577373 | HBG2 | c.222T= (p.Asp74=) c.57T= (p.Asp19=) c.192T= (p.Asp64=) c.*91T= (n.*91T=) c.133A= (p.Ile45=) | |
| 11 | g.5254385A>C | CA379264315 | HBG2 | c.222T>G (p.Asp74Glu) c.57T>G (p.Asp19Glu) c.192T>G (p.Asp64Glu) c.*91T>G (n.*91T>G) c.133A>C (p.Ile45Leu) | |
| 11 | g.5254385A>G | CA379264316 | HBG2 | c.222T>C (p.Asp74=) c.57T>C (p.Asp19=) c.192T>C (p.Asp64=) c.*91T>C (n.*91T>C) c.133A>G (p.Ile45Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254385A>T | CA379264317 | HBG2 | c.222T>A (p.Asp74Glu) c.57T>A (p.Asp19Glu) c.192T>A (p.Asp64Glu) c.*91T>A (n.*91T>A) c.133A>T (p.Ile45Phe) | |
| 11 | g.5254386T>A | CA379264318 | HBG2 | c.221A>T (p.Asp74Val) c.56A>T (p.Asp19Val) c.191A>T (p.Asp64Val) c.*90A>T (n.*90A>T) c.134T>A (p.Ile45Asn) | |
| 11 | g.5254386T>C | CA379264319 | HBG2 | c.221A>G (p.Asp74Gly) c.56A>G (p.Asp19Gly) c.191A>G (p.Asp64Gly) c.*90A>G (n.*90A>G) c.134T>C (p.Ile45Thr) | |
| 11 | g.5254386T>G | CA379264320 | HBG2 | c.221A>C (p.Asp74Ala) c.56A>C (p.Asp19Ala) c.191A>C (p.Asp64Ala) c.*90A>C (n.*90A>C) c.134T>G (p.Ile45Ser) | |
| 11 | g.5254387C>A | CA379264321 | HBG2 | c.220G>T (p.Asp74Tyr) c.55G>T (p.Asp19Tyr) c.190G>T (p.Asp64Tyr) c.*89G>T (n.*89G>T) c.135C>A (p.Ile45=) | |
| 11 | g.5254387C>G | CA379264323 | HBG2 | c.220G>C (p.Asp74His) c.55G>C (p.Asp19His) c.190G>C (p.Asp64His) c.*89G>C (n.*89G>C) c.135C>G (p.Ile45Met) | gnomAD v4 |
| 11 | g.5254387C>T | CA379264322 | HBG2 | c.220G>A (p.Asp74Asn) c.55G>A (p.Asp19Asn) c.190G>A (p.Asp64Asn) c.*89G>A (n.*89G>A) c.135C>T (p.Ile45=) | COSMIC |
| 11 | g.5254388T>A | CA379264324 | HBG2 | c.219A>T (p.Gly73=) c.54A>T (p.Gly18=) c.189A>T (p.Gly63=) c.*88A>T (n.*88A>T) c.136T>A (p.Ser46Thr) | |
| 11 | g.5254388T>C | CA379264325 | HBG2 | c.219A>G (p.Gly73=) c.54A>G (p.Gly18=) c.189A>G (p.Gly63=) c.*88A>G (n.*88A>G) c.136T>C (p.Ser46Pro) | |
| 11 | g.5254388T>G | CA379264326 | HBG2 | c.219A>C (p.Gly73=) c.54A>C (p.Gly18=) c.189A>C (p.Gly63=) c.*88A>C (n.*88A>C) c.136T>G (p.Ser46Ala) | |
| 11 | g.5254389C>A | CA379264327 | HBG2 | c.218G>T (p.Gly73Val) c.53G>T (p.Gly18Val) c.188G>T (p.Gly63Val) c.*87G>T (n.*87G>T) c.137C>A (p.Ser46Tyr) | |
| 11 | g.5254389C= | CA1949577378 | HBG2 | c.218G= (p.Gly73=) c.53G= (p.Gly18=) c.188G= (p.Gly63=) c.*87G= (n.*87G=) c.137C= (p.Ser46=) | |
| 11 | g.5254389C>G | CA379264328 | HBG2 | c.218G>C (p.Gly73Ala) c.53G>C (p.Gly18Ala) c.188G>C (p.Gly63Ala) c.*87G>C (n.*87G>C) c.137C>G (p.Ser46Cys) | |
| 11 | g.5254389C>T | CA379264329 | HBG2 | c.218G>A (p.Gly73Glu) c.53G>A (p.Gly18Glu) c.188G>A (p.Gly63Glu) c.*87G>A (n.*87G>A) c.137C>T (p.Ser46Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.5254390C>A | CA379264330 | HBG2 | c.217G>T (p.Gly73Ter) c.52G>T (p.Gly18Ter) c.187G>T (p.Gly63Ter) c.*86G>T (n.*86G>T) c.138C>A (p.Ser46=) | |
| 11 | g.5254390C= | CA1949577384 | HBG2 | c.217G= (p.Gly73=) c.52G= (p.Gly18=) c.187G= (p.Gly63=) c.*86G= (n.*86G=) c.138C= (p.Ser46=) | |
| 11 | g.5254390C>G | CA124528 | HBG2 | c.217G>C (p.Gly73Arg) c.52G>C (p.Gly18Arg) c.187G>C (p.Gly63Arg) c.*86G>C (n.*86G>C) c.138C>G (p.Ser46=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5254390C>T | CA379264331 | HBG2 | c.217G>A (p.Gly73Arg) c.52G>A (p.Gly18Arg) c.187G>A (p.Gly63Arg) c.*86G>A (n.*86G>A) c.138C>T (p.Ser46=) | |
| 11 | g.5254391C>A | CA379264334 | HBG2 | c.216G>T (p.Leu72Phe) c.51G>T (p.Leu17Phe) c.186G>T (p.Leu62Phe) c.*85G>T (n.*85G>T) c.139C>A (p.Gln47Lys) | |
| 11 | g.5254391C>G | CA379264333 | HBG2 | c.216G>C (p.Leu72Phe) c.51G>C (p.Leu17Phe) c.186G>C (p.Leu62Phe) c.*85G>C (n.*85G>C) c.139C>G (p.Gln47Glu) | gnomAD v4 |
| 11 | g.5254391C>T | CA379264332 | HBG2 | c.216G>A (p.Leu72=) c.51G>A (p.Leu17=) c.186G>A (p.Leu62=) c.*85G>A (n.*85G>A) c.139C>T (p.Gln47Ter) | |
| 11 | g.5254392A= | CA1949577390 | HBG2 | c.215T= (p.Leu72=) c.50T= (p.Leu17=) c.1761T= (n.1761T=) c.185T= (p.Leu62=) c.*84T= (n.*84T=) c.140A= (p.Gln47=) | |
| 11 | g.5254392A>C | CA379264335 | HBG2 | c.215T>G (p.Leu72Trp) c.50T>G (p.Leu17Trp) c.1761T>G (n.1761T>G) c.185T>G (p.Leu62Trp) c.*84T>G (n.*84T>G) c.140A>C (p.Gln47Pro) | |
| 11 | g.5254392A>G | CA379264336 | HBG2 | c.215T>C (p.Leu72Ser) c.50T>C (p.Leu17Ser) c.1761T>C (n.1761T>C) c.185T>C (p.Leu62Ser) c.*84T>C (n.*84T>C) c.140A>G (p.Gln47Arg) | dbSNP gnomAD v4 |
| 11 | g.5254392A>T | CA379264337 | HBG2 | c.215T>A (p.Leu72Ter) c.50T>A (p.Leu17Ter) c.1761T>A (n.1761T>A) c.185T>A (p.Leu62Ter) c.*84T>A (n.*84T>A) c.140A>T (p.Gln47Leu) | |
| 11 | g.5254393A>C | CA379264338 | HBG2 | c.214T>G (p.Leu72Val) c.49T>G (p.Leu17Val) c.1760T>G (n.1760T>G) c.184T>G (p.Leu62Val) c.*83T>G (n.*83T>G) c.141A>C (p.Gln47His) | |
| 11 | g.5254393A>G | CA472886077 | HBG2 | c.214T>C (p.Leu72=) c.49T>C (p.Leu17=) c.1760T>C (n.1760T>C) c.184T>C (p.Leu62=) c.*83T>C (n.*83T>C) c.141A>G (p.Gln47=) | |
| 11 | g.5254393A>T | CA379264339 | HBG2 | c.214T>A (p.Leu72Met) c.49T>A (p.Leu17Met) c.1760T>A (n.1760T>A) c.184T>A (p.Leu62Met) c.*83T>A (n.*83T>A) c.141A>T (p.Gln47His) | |
| 11 | g.5254394G>A | CA379264340 | HBG2 | c.213C>T (p.Ser71=) c.48C>T (p.Ser16=) c.1759C>T (n.1759C>T) c.183C>T (p.Ser61=) c.*82C>T (n.*82C>T) c.142G>A (p.Gly48Arg) | |
| 11 | g.5254394G>C | CA379264341 | HBG2 | c.213C>G (p.Ser71=) c.48C>G (p.Ser16=) c.1759C>G (n.1759C>G) c.183C>G (p.Ser61=) c.*82C>G (n.*82C>G) c.142G>C (p.Gly48Arg) | |
| 11 | g.5254394G>T | CA379264342 | HBG2 | c.213C>A (p.Ser71=) c.48C>A (p.Ser16=) c.1759C>A (n.1759C>A) c.183C>A (p.Ser61=) c.*82C>A (n.*82C>A) c.142G>T (p.Gly48Ter) | |
| 11 | g.5254395G>A | CA217121271 | HBG2 | c.212C>T (p.Ser71Phe) c.47C>T (p.Ser16Phe) c.1758C>T (n.1758C>T) c.182C>T (p.Ser61Phe) c.*81C>T (n.*81C>T) c.143G>A (p.Gly48Glu) | dbSNP gnomAD v4 COSMIC |
| 11 | g.5254395G>C | CA379264343 | HBG2 | c.212C>G (p.Ser71Cys) c.47C>G (p.Ser16Cys) c.1758C>G (n.1758C>G) c.182C>G (p.Ser61Cys) c.*81C>G (n.*81C>G) c.143G>C (p.Gly48Ala) | |
| 11 | g.5254395G= | CA1949577392 | HBG2 | c.212C= (p.Ser71=) c.47C= (p.Ser16=) c.1758C= (n.1758C=) c.182C= (p.Ser61=) c.*81C= (n.*81C=) c.143G= (p.Gly48=) | |
| 11 | g.5254395G>T | CA379264344 | HBG2 | c.212C>A (p.Ser71Tyr) c.47C>A (p.Ser16Tyr) c.1758C>A (n.1758C>A) c.182C>A (p.Ser61Tyr) c.*81C>A (n.*81C>A) c.143G>T (p.Gly48Val) | gnomAD v4 |
| 11 | g.5254396A>C | CA379264347 | HBG2 | c.211T>G (p.Ser71Ala) c.46T>G (p.Ser16Ala) c.1757T>G (n.1757T>G) c.181T>G (p.Ser61Ala) c.*80T>G (n.*80T>G) c.144A>C (p.Gly48=) | |
| 11 | g.5254396A>G | CA379264346 | HBG2 | c.211T>C (p.Ser71Pro) c.46T>C (p.Ser16Pro) c.1757T>C (n.1757T>C) c.181T>C (p.Ser61Pro) c.*80T>C (n.*80T>C) c.144A>G (p.Gly48=) | |
| 11 | g.5254396A>T | CA379264345 | HBG2 | c.211T>A (p.Ser71Thr) c.46T>A (p.Ser16Thr) c.1757T>A (n.1757T>A) c.181T>A (p.Ser61Thr) c.*80T>A (n.*80T>A) c.144A>T (p.Gly48=) | |
| 11 | g.5254397A= | CA1949577397 | HBG2 | c.210T= (p.Thr70=) c.45T= (p.Thr15=) c.1756T= (n.1756T=) c.180T= (p.Thr60=) c.*79T= (n.*79T=) c.145A= (p.Ser49=) | |
| 11 | g.5254397A>C | CA5840265 | HBG2 | c.210T>G (p.Thr70=) c.45T>G (p.Thr15=) c.1756T>G (n.1756T>G) c.180T>G (p.Thr60=) c.*79T>G (n.*79T>G) c.145A>C (p.Ser49Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.5254397A>G | CA379264348 | HBG2 | c.210T>C (p.Thr70=) c.45T>C (p.Thr15=) c.1756T>C (n.1756T>C) c.180T>C (p.Thr60=) c.*79T>C (n.*79T>C) c.145A>G (p.Ser49Gly) | |
| 11 | g.5254397A>T | CA379264349 | HBG2 | c.210T>A (p.Thr70=) c.45T>A (p.Thr15=) c.1756T>A (n.1756T>A) c.180T>A (p.Thr60=) c.*79T>A (n.*79T>A) c.145A>T (p.Ser49Cys) | dbSNP COSMIC |
| 11 | g.5254398G>A | CA379264350 | HBG2 | c.209C>T (p.Thr70Ile) c.44C>T (p.Thr15Ile) c.1755C>T (n.1755C>T) c.179C>T (p.Thr60Ile) c.*78C>T (n.*78C>T) c.146G>A (p.Ser49Asn) | gnomAD v4 |
| 11 | g.5254398G>C | CA379264351 | HBG2 | c.209C>G (p.Thr70Ser) c.44C>G (p.Thr15Ser) c.1755C>G (n.1755C>G) c.179C>G (p.Thr60Ser) c.*78C>G (n.*78C>G) c.146G>C (p.Ser49Thr) | dbSNP gnomAD v4 |
| 11 | g.5254398G= | CA1949577402 | HBG2 | c.209C= (p.Thr70=) c.44C= (p.Thr15=) c.1755C= (n.1755C=) c.179C= (p.Thr60=) c.*78C= (n.*78C=) c.146G= (p.Ser49=) | |
| 11 | g.5254398G>T | CA5840266 | HBG2 | c.209C>A (p.Thr70Asn) c.44C>A (p.Thr15Asn) c.1755C>A (n.1755C>A) c.179C>A (p.Thr60Asn) c.*78C>A (n.*78C>A) c.146G>T (p.Ser49Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5254399T>A | CA379264352 | HBG2 | c.208A>T (p.Thr70Ser) c.43A>T (p.Thr15Ser) c.1754A>T (n.1754A>T) c.178A>T (p.Thr60Ser) c.*77A>T (n.*77A>T) c.147T>A (p.Ser49Arg) | |
| 11 | g.5254399T>C | CA379264353 | HBG2 | c.208A>G (p.Thr70Ala) c.43A>G (p.Thr15Ala) c.1754A>G (n.1754A>G) c.178A>G (p.Thr60Ala) c.*77A>G (n.*77A>G) c.147T>C (p.Ser49=) | gnomAD v4 |
| 11 | g.5254399T>G | CA379264354 | HBG2 | c.208A>C (p.Thr70Pro) c.43A>C (p.Thr15Pro) c.1754A>C (n.1754A>C) c.178A>C (p.Thr60Pro) c.*77A>C (n.*77A>C) c.147T>G (p.Ser49Arg) | gnomAD v4 |
| 11 | g.5254401_5254409del | CA2612152326 | HBG2 | c.200_208del (p.Lys67_Leu69del) c.35_43del (p.Lys12_Leu14del) c.1746_1754del (n.1746_1754del) c.170_178del (p.Lys57_Leu59del) c.*69_*77del (n.*69_*77del) c.149_157del (p.Gln50_Leu52del) | gnomAD v4 |
| 11 | g.5254400C>A | CA379264355 | HBG2 | c.207G>T (p.Leu69=) c.42G>T (p.Leu14=) c.1753G>T (n.1753G>T) c.177G>T (p.Leu59=) c.*76G>T (n.*76G>T) c.148C>A (p.Gln50Lys) | |
| 11 | g.5254400C= | CA1949577407 | HBG2 | c.207G= (p.Leu69=) c.42G= (p.Leu14=) c.1753G= (n.1753G=) c.177G= (p.Leu59=) c.*76G= (n.*76G=) c.148C= (p.Gln50=) | |
| 11 | g.5254400C>G | CA379264356 | HBG2 | c.207G>C (p.Leu69=) c.42G>C (p.Leu14=) c.1753G>C (n.1753G>C) c.177G>C (p.Leu59=) c.*76G>C (n.*76G>C) c.148C>G (p.Gln50Glu) | |
| 11 | g.5254400C>T | CA379264357 | HBG2 | c.207G>A (p.Leu69=) c.42G>A (p.Leu14=) c.1753G>A (n.1753G>A) c.177G>A (p.Leu59=) c.*76G>A (n.*76G>A) c.148C>T (p.Gln50Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254401A>C | CA379264360 | HBG2 | c.206T>G (p.Leu69Arg) c.41T>G (p.Leu14Arg) c.1752T>G (n.1752T>G) c.176T>G (p.Leu59Arg) c.*75T>G (n.*75T>G) c.149A>C (p.Gln50Pro) | |
| 11 | g.5254401A>G | CA379264359 | HBG2 | c.206T>C (p.Leu69Pro) c.41T>C (p.Leu14Pro) c.1752T>C (n.1752T>C) c.176T>C (p.Leu59Pro) c.*75T>C (n.*75T>C) c.149A>G (p.Gln50Arg) | |
| 11 | g.5254401A>T | CA379264358 | HBG2 | c.206T>A (p.Leu69Gln) c.41T>A (p.Leu14Gln) c.1752T>A (n.1752T>A) c.176T>A (p.Leu59Gln) c.*75T>A (n.*75T>A) c.149A>T (p.Gln50Leu) | gnomAD v4 |
| 11 | g.5254402G>A | CA472886078 | HBG2 | c.205C>T (p.Leu69=) c.40C>T (p.Leu14=) c.1751C>T (n.1751C>T) c.175C>T (p.Leu59=) c.*74C>T (n.*74C>T) c.150G>A (p.Gln50=) | dbSNP gnomAD v4 |
| 11 | g.5254402G>C | CA379264361 | HBG2 | c.205C>G (p.Leu69Val) c.40C>G (p.Leu14Val) c.1751C>G (n.1751C>G) c.175C>G (p.Leu59Val) c.*74C>G (n.*74C>G) c.150G>C (p.Gln50His) | |
| 11 | g.5254402G= | CA1949577409 | HBG2 | c.205C= (p.Leu69=) c.40C= (p.Leu14=) c.1751C= (n.1751C=) c.175C= (p.Leu59=) c.*74C= (n.*74C=) c.150G= (p.Gln50=) | |
| 11 | g.5254402G>T | CA379264362 | HBG2 | c.205C>A (p.Leu69Met) c.40C>A (p.Leu14Met) c.1751C>A (n.1751C>A) c.175C>A (p.Leu59Met) c.*74C>A (n.*74C>A) c.150G>T (p.Gln50His) | gnomAD v4 |
| 11 | g.5254403C>A | CA379264363 | HBG2 | c.204G>T (p.Val68=) c.39G>T (p.Val13=) c.1750G>T (n.1750G>T) c.174G>T (p.Val58=) c.*73G>T (n.*73G>T) c.151C>A (p.His51Asn) | gnomAD v4 |
| 11 | g.5254403C>G | CA379264364 | HBG2 | c.204G>C (p.Val68=) c.39G>C (p.Val13=) c.1750G>C (n.1750G>C) c.174G>C (p.Val58=) c.*73G>C (n.*73G>C) c.151C>G (p.His51Asp) | |
| 11 | g.5254403C>T | CA379264365 | HBG2 | c.204G>A (p.Val68=) c.39G>A (p.Val13=) c.1750G>A (n.1750G>A) c.174G>A (p.Val58=) c.*73G>A (n.*73G>A) c.151C>T (p.His51Tyr) | gnomAD v4 |
| 11 | g.5254404A>C | CA379264368 | HBG2 | c.203T>G (p.Val68Gly) c.38T>G (p.Val13Gly) c.1749T>G (n.1749T>G) c.173T>G (p.Val58Gly) c.*72T>G (n.*72T>G) c.152A>C (p.His51Pro) | |
| 11 | g.5254404A>G | CA379264367 | HBG2 | c.203T>C (p.Val68Ala) c.38T>C (p.Val13Ala) c.1749T>C (n.1749T>C) c.173T>C (p.Val58Ala) c.*72T>C (n.*72T>C) c.152A>G (p.His51Arg) | |
| 11 | g.5254404A>T | CA379264366 | HBG2 | c.203T>A (p.Val68Glu) c.38T>A (p.Val13Glu) c.1749T>A (n.1749T>A) c.173T>A (p.Val58Glu) c.*72T>A (n.*72T>A) c.152A>T (p.His51Leu) | |
| 11 | g.5254405C>A | CA379264369 | HBG2 | c.202G>T (p.Val68Leu) c.37G>T (p.Val13Leu) c.1748G>T (n.1748G>T) c.172G>T (p.Val58Leu) c.*71G>T (n.*71G>T) c.153C>A (p.His51Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254405C= | CA1949577435 | HBG2 | c.202G= (p.Val68=) c.37G= (p.Val13=) c.1748G= (n.1748G=) c.172G= (p.Val58=) c.*71G= (n.*71G=) c.153C= (p.His51=) | |
| 11 | g.5254405C>G | CA379264370 | HBG2 | c.202G>C (p.Val68Leu) c.37G>C (p.Val13Leu) c.1748G>C (n.1748G>C) c.172G>C (p.Val58Leu) c.*71G>C (n.*71G>C) c.153C>G (p.His51Gln) | |
| 11 | g.5254405C>T | CA128617 | HBG2 | c.202G>A (p.Val68Met) c.37G>A (p.Val13Met) c.1748G>A (n.1748G>A) c.172G>A (p.Val58Met) c.*71G>A (n.*71G>A) c.153C>T (p.His51=) | ClinVar dbSNP |
| 11 | g.5254406C>A | CA379264371 | HBG2 | c.201G>T (p.Lys67Asn) c.36G>T (p.Lys12Asn) c.1747G>T (n.1747G>T) c.171G>T (p.Lys57Asn) c.*70G>T (n.*70G>T) c.154C>A (p.Leu52Ile) | gnomAD v4 COSMIC |
| 11 | g.5254406C= | CA1949577436 | HBG2 | c.201G= (p.Lys67=) c.36G= (p.Lys12=) c.1747G= (n.1747G=) c.171G= (p.Lys57=) c.*70G= (n.*70G=) c.154C= (p.Leu52=) | |
| 11 | g.5254406C>G | CA379264372 | HBG2 | c.201G>C (p.Lys67Asn) c.36G>C (p.Lys12Asn) c.1747G>C (n.1747G>C) c.171G>C (p.Lys57Asn) c.*70G>C (n.*70G>C) c.154C>G (p.Leu52Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254406C>T | CA379264373 | HBG2 | c.201G>A (p.Lys67=) c.36G>A (p.Lys12=) c.1747G>A (n.1747G>A) c.171G>A (p.Lys57=) c.*70G>A (n.*70G>A) c.154C>T (p.Leu52Phe) | |
| 11 | g.5254406_5254407delinsCT | CA1949577438 | HBG2 | c.200_201delinsAG (p.Lys67=) c.35_36delinsAG (p.Lys12=) c.1746_1747delinsAG (n.1746_1747delinsAG) c.170_171delinsAG (p.Lys57=) c.*69_*70delinsAG (n.*69_*70delinsAG) c.154_155delinsCT (p.Leu52=) | |
| 11 | g.5254407T>A | CA217121293 | HBG2 | c.200A>T (p.Lys67Met) c.35A>T (p.Lys12Met) c.1746A>T (n.1746A>T) c.170A>T (p.Lys57Met) c.*69A>T (n.*69A>T) c.155T>A (p.Leu52His) | dbSNP |
| 11 | g.5254407T>C | CA124536 | HBG2 | c.200A>G (p.Lys67Arg) c.35A>G (p.Lys12Arg) c.1746A>G (n.1746A>G) c.170A>G (p.Lys57Arg) c.*69A>G (n.*69A>G) c.155T>C (p.Leu52Pro) | ClinVar dbSNP |
| 11 | g.5254407T>G | CA379264374 | HBG2 | c.200A>C (p.Lys67Thr) c.35A>C (p.Lys12Thr) c.1746A>C (n.1746A>C) c.170A>C (p.Lys57Thr) c.*69A>C (n.*69A>C) c.155T>G (p.Leu52Arg) | |
| 11 | g.5254407T= | CA1949577441 | HBG2 | c.200A= (p.Lys67=) c.35A= (p.Lys12=) c.1746A= (n.1746A=) c.170A= (p.Lys57=) c.*69A= (n.*69A=) c.155T= (p.Leu52=) | |
| 11 | g.5254408del | CA1949577440 | HBG2 | c.200del (p.Lys67ArgfsTer3) c.35del (p.Lys12ArgfsTer3) c.1746del (n.1746del) c.170del (p.Lys57ArgfsTer3) c.*69del (n.*69del) c.156del (p.Ala54ProfsTer?) | dbSNP |
| 11 | g.5254408T>A | CA379264375 | HBG2 | c.199A>T (p.Lys67Ter) c.34A>T (p.Lys12Ter) c.1745A>T (n.1745A>T) c.169A>T (p.Lys57Ter) c.*68A>T (n.*68A>T) c.156T>A (p.Leu52=) | |
| 11 | g.5254408T>C | CA379264376 | HBG2 | c.199A>G (p.Lys67Glu) c.34A>G (p.Lys12Glu) c.1745A>G (n.1745A>G) c.169A>G (p.Lys57Glu) c.*68A>G (n.*68A>G) c.156T>C (p.Leu52=) | |
| 11 | g.5254408T>G | CA124550 | HBG2 | c.199A>C (p.Lys67Gln) c.34A>C (p.Lys12Gln) c.1745A>C (n.1745A>C) c.169A>C (p.Lys57Gln) c.*68A>C (n.*68A>C) c.156T>G (p.Leu52=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254408T= | CA1949577445 | HBG2 | c.199A= (p.Lys67=) c.34A= (p.Lys12=) c.1745A= (n.1745A=) c.169A= (p.Lys57=) c.*68A= (n.*68A=) c.156T= (p.Leu52=) | |
| 11 | g.5254409C>A | CA217121305 | HBG2 | c.198G>T (p.Lys66Asn) c.33G>T (p.Lys11Asn) c.1744G>T (n.1744G>T) c.168G>T (p.Lys56Asn) c.*67G>T (n.*67G>T) c.157C>A (p.Leu53Ile) | dbSNP |
| 11 | g.5254409C= | CA1949577448 | HBG2 | c.198G= (p.Lys66=) c.33G= (p.Lys11=) c.1744G= (n.1744G=) c.168G= (p.Lys56=) c.*67G= (n.*67G=) c.157C= (p.Leu53=) | |
| 11 | g.5254409C>G | CA124502 | HBG2 | c.198G>C (p.Lys66Asn) c.33G>C (p.Lys11Asn) c.1744G>C (n.1744G>C) c.168G>C (p.Lys56Asn) c.*67G>C (n.*67G>C) c.157C>G (p.Leu53Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5254409C>T | CA379264377 | HBG2 | c.198G>A (p.Lys66=) c.33G>A (p.Lys11=) c.1744G>A (n.1744G>A) c.168G>A (p.Lys56=) c.*67G>A (n.*67G>A) c.157C>T (p.Leu53Phe) | gnomAD v4 |
| 11 | g.5254410T>A | CA379264378 | HBG2 | c.197A>T (p.Lys66Met) c.32A>T (p.Lys11Met) c.1743A>T (n.1743A>T) c.167A>T (p.Lys56Met) c.*66A>T (n.*66A>T) c.158T>A (p.Leu53His) | |
| 11 | g.5254410T>C | CA379264379 | HBG2 | c.197A>G (p.Lys66Arg) c.32A>G (p.Lys11Arg) c.1743A>G (n.1743A>G) c.167A>G (p.Lys56Arg) c.*66A>G (n.*66A>G) c.158T>C (p.Leu53Pro) | |
| 11 | g.5254410T>G | CA379264380 | HBG2 | c.197A>C (p.Lys66Thr) c.32A>C (p.Lys11Thr) c.1743A>C (n.1743A>C) c.167A>C (p.Lys56Thr) c.*66A>C (n.*66A>C) c.158T>G (p.Leu53Arg) | |
| 11 | g.5254411T>A | CA379264381 | HBG2 | c.196A>T (p.Lys66Ter) c.31A>T (p.Lys11Ter) c.1742A>T (n.1742A>T) c.166A>T (p.Lys56Ter) c.*65A>T (n.*65A>T) c.159T>A (p.Leu53=) | |
| 11 | g.5254411T>C | CA379264382 | HBG2 | c.196A>G (p.Lys66Glu) c.31A>G (p.Lys11Glu) c.1742A>G (n.1742A>G) c.166A>G (p.Lys56Glu) c.*65A>G (n.*65A>G) c.159T>C (p.Leu53=) | |
| 11 | g.5254411T>G | CA379264383 | HBG2 | c.196A>C (p.Lys66Gln) c.31A>C (p.Lys11Gln) c.1742A>C (n.1742A>C) c.166A>C (p.Lys56Gln) c.*65A>C (n.*65A>C) c.159T>G (p.Leu53=) | |
| 11 | g.5254412G>A | CA379264384 | HBG2 | c.195C>T (p.Gly65=) c.30C>T (p.Gly10=) c.1741C>T (n.1741C>T) c.165C>T (p.Gly55=) c.*64C>T (n.*64C>T) c.160G>A (p.Ala54Thr) | |
| 11 | g.5254412G>C | CA379264386 | HBG2 | c.195C>G (p.Gly65=) c.30C>G (p.Gly10=) c.1741C>G (n.1741C>G) c.165C>G (p.Gly55=) c.*64C>G (n.*64C>G) c.160G>C (p.Ala54Pro) | |
| 11 | g.5254412G>T | CA379264385 | HBG2 | c.195C>A (p.Gly65=) c.30C>A (p.Gly10=) c.1741C>A (n.1741C>A) c.165C>A (p.Gly55=) c.*64C>A (n.*64C>A) c.160G>T (p.Ala54Ser) | |
| 11 | g.5254413C>A | CA379264387 | HBG2 | c.194G>T (p.Gly65Val) c.29G>T (p.Gly10Val) c.1740G>T (n.1740G>T) c.164G>T (p.Gly55Val) c.*63G>T (n.*63G>T) c.161C>A (p.Ala54Asp) | |
| 11 | g.5254413C= | CA1949577451 | HBG2 | c.194G= (p.Gly65=) c.29G= (p.Gly10=) c.1740G= (n.1740G=) c.164G= (p.Gly55=) c.*63G= (n.*63G=) c.161C= (p.Ala54=) | |
| 11 | g.5254413C>G | CA379264388 | HBG2 | c.194G>C (p.Gly65Ala) c.29G>C (p.Gly10Ala) c.1740G>C (n.1740G>C) c.164G>C (p.Gly55Ala) c.*63G>C (n.*63G>C) c.161C>G (p.Ala54Gly) | |
| 11 | g.5254413C>T | CA379264389 | HBG2 | c.194G>A (p.Gly65Asp) c.29G>A (p.Gly10Asp) c.1740G>A (n.1740G>A) c.164G>A (p.Gly55Asp) c.*63G>A (n.*63G>A) c.161C>T (p.Ala54Val) | dbSNP |
| 11 | g.5254414C>A | CA379264390 | HBG2 | c.193G>T (p.Gly65Cys) c.28G>T (p.Gly10Cys) c.1739G>T (n.1739G>T) c.163G>T (p.Gly55Cys) c.*62G>T (n.*62G>T) c.162C>A (p.Ala54=) | |
| 11 | g.5254414C>G | CA379264391 | HBG2 | c.193G>C (p.Gly65Arg) c.28G>C (p.Gly10Arg) c.1739G>C (n.1739G>C) c.163G>C (p.Gly55Arg) c.*62G>C (n.*62G>C) c.162C>G (p.Ala54=) | |
| 11 | g.5254414C>T | CA379264392 | HBG2 | c.193G>A (p.Gly65Ser) c.28G>A (p.Gly10Ser) c.1739G>A (n.1739G>A) c.163G>A (p.Gly55Ser) c.*62G>A (n.*62G>A) c.162C>T (p.Ala54=) | gnomAD v4 |
| 11 | g.5254415del | CA2612152358 | HBG2 | c.192del (p.His64GlnfsTer6) c.27del (p.His9GlnfsTer6) c.1738del (n.1738del) c.162del (p.His54GlnfsTer6) c.*61del (n.*61del) c.163del (p.Met55CysfsTer29) | gnomAD v4 |
| 11 | g.5254415A>C | CA379264393 | HBG2 | c.192T>G (p.His64Gln) c.27T>G (p.His9Gln) c.1738T>G (n.1738T>G) c.162T>G (p.His54Gln) c.*61T>G (n.*61T>G) c.163A>C (p.Met55Leu) | |
| 11 | g.5254415A>G | CA379264394 | HBG2 | c.192T>C (p.His64=) c.27T>C (p.His9=) c.1738T>C (n.1738T>C) c.162T>C (p.His54=) c.*61T>C (n.*61T>C) c.163A>G (p.Met55Val) | |
| 11 | g.5254415A>T | CA379264395 | HBG2 | c.192T>A (p.His64Gln) c.27T>A (p.His9Gln) c.1738T>A (n.1738T>A) c.162T>A (p.His54Gln) c.*61T>A (n.*61T>A) c.163A>T (p.Met55Leu) | |
| 11 | g.5254416T>A | CA379264396 | HBG2 | c.191A>T (p.His64Leu) c.26A>T (p.His9Leu) c.1737A>T (n.1737A>T) c.161A>T (p.His54Leu) c.*60A>T (n.*60A>T) c.164T>A (p.Met55Lys) | ClinVar |
| 11 | g.5254416T>C | CA379264397 | HBG2 | c.191A>G (p.His64Arg) c.26A>G (p.His9Arg) c.1737A>G (n.1737A>G) c.161A>G (p.His54Arg) c.*60A>G (n.*60A>G) c.164T>C (p.Met55Thr) | |
| 11 | g.5254416T>G | CA379264398 | HBG2 | c.191A>C (p.His64Pro) c.26A>C (p.His9Pro) c.1737A>C (n.1737A>C) c.161A>C (p.His54Pro) c.*60A>C (n.*60A>C) c.164T>G (p.Met55Arg) | |
| 11 | g.5254417G>A | CA124542 | HBG2 | c.190C>T (p.His64Tyr) c.25C>T (p.His9Tyr) c.1736C>T (n.1736C>T) c.160C>T (p.His54Tyr) c.*59C>T (n.*59C>T) c.165G>A (p.Met55Ile) | ClinVar dbSNP |
| 11 | g.5254417G>C | CA379264399 | HBG2 | c.190C>G (p.His64Asp) c.25C>G (p.His9Asp) c.1736C>G (n.1736C>G) c.160C>G (p.His54Asp) c.*59C>G (n.*59C>G) c.165G>C (p.Met55Ile) | |
| 11 | g.5254417G= | CA1949577453 | HBG2 | c.190C= (p.His64=) c.25C= (p.His9=) c.1736C= (n.1736C=) c.160C= (p.His54=) c.*59C= (n.*59C=) c.165G= (p.Met55=) | |
| 11 | g.5254417G>T | CA379264400 | HBG2 | c.190C>A (p.His64Asn) c.25C>A (p.His9Asn) c.1736C>A (n.1736C>A) c.160C>A (p.His54Asn) c.*59C>A (n.*59C>A) c.165G>T (p.Met55Ile) | |
| 11 | g.5254418T>A | CA379264401 | HBG2 | c.189A>T (p.Ala63=) c.24A>T (p.Ala8=) c.1735A>T (n.1735A>T) c.159A>T (p.Ala53=) c.*58A>T (n.*58A>T) c.166T>A (p.Cys56Ser) | gnomAD v4 |
| 11 | g.5254418T>C | CA379264402 | HBG2 | c.189A>G (p.Ala63=) c.24A>G (p.Ala8=) c.1735A>G (n.1735A>G) c.159A>G (p.Ala53=) c.*58A>G (n.*58A>G) c.166T>C (p.Cys56Arg) | gnomAD v4 |
| 11 | g.5254418T>G | CA379264403 | HBG2 | c.189A>C (p.Ala63=) c.24A>C (p.Ala8=) c.1735A>C (n.1735A>C) c.159A>C (p.Ala53=) c.*58A>C (n.*58A>C) c.166T>G (p.Cys56Gly) | |
| 11 | g.5254419G>A | CA379264404 | HBG2 | c.188C>T (p.Ala63Val) c.23C>T (p.Ala8Val) c.1734C>T (n.1734C>T) c.158C>T (p.Ala53Val) c.*57C>T (n.*57C>T) c.167G>A (p.Cys56Tyr) | |
| 11 | g.5254419G>C | CA217121323 | HBG2 | c.188C>G (p.Ala63Gly) c.23C>G (p.Ala8Gly) c.1734C>G (n.1734C>G) c.158C>G (p.Ala53Gly) c.*57C>G (n.*57C>G) c.167G>C (p.Cys56Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5254419G= | CA1949577455 | HBG2 | c.188C= (p.Ala63=) c.23C= (p.Ala8=) c.1734C= (n.1734C=) c.158C= (p.Ala53=) c.*57C= (n.*57C=) c.167G= (p.Cys56=) | |
| 11 | g.5254419G>T | CA379264405 | HBG2 | c.188C>A (p.Ala63Glu) c.23C>A (p.Ala8Glu) c.1734C>A (n.1734C>A) c.158C>A (p.Ala53Glu) c.*57C>A (n.*57C>A) c.167G>T (p.Cys56Phe) |