Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94382852T>A | CA390850093 | SERPINA1 | c.386A>T (p.Gln129Leu) c.128A>T (p.Gln43Leu) | |
14 | g.94382852T>C | CA390850095 | SERPINA1 | c.386A>G (p.Gln129Arg) c.128A>G (p.Gln43Arg) | dbSNP gnomAD v4 |
14 | g.94382852T>G | CA390850096 | SERPINA1 | c.386A>C (p.Gln129Pro) c.128A>C (p.Gln43Pro) | |
14 | g.94382852T= | CA2155954809 | SERPINA1 | c.386A= (p.Gln129=) c.128A= (p.Gln43=) | |
14 | g.94382853G>A | CA390850099 | SERPINA1 | c.385C>T (p.Gln129Ter) c.127C>T (p.Gln43Ter) | |
14 | g.94382853G>C | CA390850100 | SERPINA1 | c.385C>G (p.Gln129Glu) c.127C>G (p.Gln43Glu) | |
14 | g.94382853G= | CA2155954810 | SERPINA1 | c.385C= (p.Gln129=) c.127C= (p.Gln43=) | |
14 | g.94382853G>T | CA265864143 | SERPINA1 | c.385C>A (p.Gln129Lys) c.127C>A (p.Gln43Lys) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382854G>A | CA487841119 | SERPINA1 | c.384C>T (p.Asn128=) c.126C>T (p.Asn42=) | gnomAD v4 |
14 | g.94382854G>C | CA390850102 | SERPINA1 | c.384C>G (p.Asn128Lys) c.126C>G (p.Asn42Lys) | |
14 | g.94382854G>T | CA390850103 | SERPINA1 | c.384C>A (p.Asn128Lys) c.126C>A (p.Asn42Lys) | |
14 | g.94382855T>A | CA390850105 | SERPINA1 | c.383A>T (p.Asn128Ile) c.125A>T (p.Asn42Ile) | gnomAD v4 |
14 | g.94382855T>C | CA390850107 | SERPINA1 | c.383A>G (p.Asn128Ser) c.125A>G (p.Asn42Ser) | gnomAD v4 |
14 | g.94382855T>G | CA390850108 | SERPINA1 | c.383A>C (p.Asn128Thr) c.125A>C (p.Asn42Thr) | |
14 | g.94382856T>A | CA390850110 | SERPINA1 | c.382A>T (p.Asn128Tyr) c.124A>T (p.Asn42Tyr) | |
14 | g.94382856T>C | CA390850112 | SERPINA1 | c.382A>G (p.Asn128Asp) c.124A>G (p.Asn42Asp) | |
14 | g.94382856T>G | CA390850109 | SERPINA1 | c.382A>C (p.Asn128His) c.124A>C (p.Asn42His) | |
14 | g.94382857G>A | CA7327507 | SERPINA1 | c.381C>T (p.Leu127=) c.123C>T (p.Leu41=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382857G>C | CA487841122 | SERPINA1 | c.381C>G (p.Leu127=) c.123C>G (p.Leu41=) | |
14 | g.94382857G= | CA2155954811 | SERPINA1 | c.381C= (p.Leu127=) c.123C= (p.Leu41=) | |
14 | g.94382857G>T | CA487841121 | SERPINA1 | c.381C>A (p.Leu127=) c.123C>A (p.Leu41=) | |
14 | g.94382858A>C | CA390850115 | SERPINA1 | c.380T>G (p.Leu127Arg) c.122T>G (p.Leu41Arg) | |
14 | g.94382858A>G | CA390850116 | SERPINA1 | c.380T>C (p.Leu127Pro) c.122T>C (p.Leu41Pro) | |
14 | g.94382858A>T | CA390850117 | SERPINA1 | c.380T>A (p.Leu127His) c.122T>A (p.Leu41His) | |
14 | g.94382859G>A | CA390850121 | SERPINA1 | c.379C>T (p.Leu127Phe) c.121C>T (p.Leu41Phe) | gnomAD v4 |
14 | g.94382859G>C | CA390850119 | SERPINA1 | c.379C>G (p.Leu127Val) c.121C>G (p.Leu41Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382859G= | CA2155954812 | SERPINA1 | c.379C= (p.Leu127=) c.121C= (p.Leu41=) | |
14 | g.94382859G>T | CA390850118 | SERPINA1 | c.379C>A (p.Leu127Ile) c.121C>A (p.Leu41Ile) | COSMIC |
14 | g.94382860G>A | CA7327508 | SERPINA1 | c.378C>T (p.Thr126=) c.120C>T (p.Thr40=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382860G>C | CA487841125 | SERPINA1 | c.378C>G (p.Thr126=) c.120C>G (p.Thr40=) | |
14 | g.94382860G= | CA2155954813 | SERPINA1 | c.378C= (p.Thr126=) c.120C= (p.Thr40=) | |
14 | g.94382860G>T | CA487841126 | SERPINA1 | c.378C>A (p.Thr126=) c.120C>A (p.Thr40=) | |
14 | g.94382861G>A | CA390850124 | SERPINA1 | c.377C>T (p.Thr126Ile) c.119C>T (p.Thr40Ile) | |
14 | g.94382861G>C | CA390850125 | SERPINA1 | c.377C>G (p.Thr126Ser) c.119C>G (p.Thr40Ser) | gnomAD v4 |
14 | g.94382861G>T | CA390850127 | SERPINA1 | c.377C>A (p.Thr126Asn) c.119C>A (p.Thr40Asn) | |
14 | g.94382862del | CA2695219661 | SERPINA1 | c.376del (p.Thr126ProfsTer11) c.118del (p.Thr40ProfsTer11) | |
14 | g.94382862T>A | CA390850129 | SERPINA1 | c.376A>T (p.Thr126Ser) c.118A>T (p.Thr40Ser) | |
14 | g.94382862T>C | CA390850131 | SERPINA1 | c.376A>G (p.Thr126Ala) c.118A>G (p.Thr40Ala) | |
14 | g.94382862T>G | CA390850132 | SERPINA1 | c.376A>C (p.Thr126Pro) c.118A>C (p.Thr40Pro) | |
14 | g.94382863A= | CA2155954814 | SERPINA1 | c.375T= (p.Arg125=) c.117T= (p.Arg39=) | |
14 | g.94382863A>C | CA487841128 | SERPINA1 | c.375T>G (p.Arg125=) c.117T>G (p.Arg39=) | |
14 | g.94382863A>G | CA487841129 | SERPINA1 | c.375T>C (p.Arg125=) c.117T>C (p.Arg39=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382863A>T | CA487841130 | SERPINA1 | c.375T>A (p.Arg125=) c.117T>A (p.Arg39=) | |
14 | g.94382864C>A | CA390850133 | SERPINA1 | c.374G>T (p.Arg125Leu) c.116G>T (p.Arg39Leu) | |
14 | g.94382864C= | CA2155954815 | SERPINA1 | c.374G= (p.Arg125=) c.116G= (p.Arg39=) | |
14 | g.94382864C>G | CA390850134 | SERPINA1 | c.374G>C (p.Arg125Pro) c.116G>C (p.Arg39Pro) | |
14 | g.94382864C>T | CA127621 | SERPINA1 | c.374G>A (p.Arg125His) c.116G>A (p.Arg39His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382865G>A | CA7327509 | SERPINA1 | c.373C>T (p.Arg125Cys) c.115C>T (p.Arg39Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94382865G>C | CA390850137 | SERPINA1 | c.373C>G (p.Arg125Gly) c.115C>G (p.Arg39Gly) | |
14 | g.94382865G= | CA2155954816 | SERPINA1 | c.373C= (p.Arg125=) c.115C= (p.Arg39=) | |
14 | g.94382865G>T | CA390850135 | SERPINA1 | c.373C>A (p.Arg125Ser) c.115C>A (p.Arg39Ser) | |
14 | g.94382866G>A | CA487841132 | SERPINA1 | c.372C>T (p.Leu124=) c.114C>T (p.Leu38=) | ClinVar dbSNP gnomAD v4 |
14 | g.94382866G>C | CA487841133 | SERPINA1 | c.372C>G (p.Leu124=) c.114C>G (p.Leu38=) | |
14 | g.94382866G>T | CA487841134 | SERPINA1 | c.372C>A (p.Leu124=) c.114C>A (p.Leu38=) | ClinVar |
14 | g.94382867A>C | CA390850139 | SERPINA1 | c.371T>G (p.Leu124Arg) c.113T>G (p.Leu38Arg) | |
14 | g.94382867A>G | CA390850141 | SERPINA1 | c.371T>C (p.Leu124Pro) c.113T>C (p.Leu38Pro) | gnomAD v4 |
14 | g.94382867A>T | CA390850142 | SERPINA1 | c.371T>A (p.Leu124His) c.113T>A (p.Leu38His) | |
14 | g.94382868G>A | CA390850144 | SERPINA1 | c.370C>T (p.Leu124Phe) c.112C>T (p.Leu38Phe) | |
14 | g.94382868G>C | CA390850146 | SERPINA1 | c.370C>G (p.Leu124Val) c.112C>G (p.Leu38Val) | |
14 | g.94382868G>T | CA390850148 | SERPINA1 | c.370C>A (p.Leu124Ile) c.112C>A (p.Leu38Ile) | |
14 | g.94382869G>A | CA487841140 | SERPINA1 | c.369C>T (p.Leu123=) c.111C>T (p.Leu37=) | |
14 | g.94382869G>C | CA487841142 | SERPINA1 | c.369C>G (p.Leu123=) c.111C>G (p.Leu37=) | |
14 | g.94382869G>T | CA487841144 | SERPINA1 | c.369C>A (p.Leu123=) c.111C>A (p.Leu37=) | ClinVar dbSNP |
14 | g.94382870A>C | CA390850149 | SERPINA1 | c.368T>G (p.Leu123Arg) c.110T>G (p.Leu37Arg) | |
14 | g.94382870A>G | CA390850151 | SERPINA1 | c.368T>C (p.Leu123Pro) c.110T>C (p.Leu37Pro) | |
14 | g.94382870A>T | CA390850153 | SERPINA1 | c.368T>A (p.Leu123His) c.110T>A (p.Leu37His) | |
14 | g.94382871G>A | CA390850155 | SERPINA1 | c.367C>T (p.Leu123Phe) c.109C>T (p.Leu37Phe) | gnomAD v4 |
14 | g.94382871G>C | CA390850156 | SERPINA1 | c.367C>G (p.Leu123Val) c.109C>G (p.Leu37Val) | gnomAD v4 |
14 | g.94382871G>T | CA390850157 | SERPINA1 | c.367C>A (p.Leu123Ile) c.109C>A (p.Leu37Ile) | |
14 | g.94382872T>A | CA390850162 | SERPINA1 | c.366A>T (p.Glu122Asp) c.108A>T (p.Glu36Asp) | |
14 | g.94382872T>C | CA7327510 | SERPINA1 | c.366A>G (p.Glu122=) c.108A>G (p.Glu36=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382872T>G | CA390850160 | SERPINA1 | c.366A>C (p.Glu122Asp) c.108A>C (p.Glu36Asp) | |
14 | g.94382872T= | CA2155954817 | SERPINA1 | c.366A= (p.Glu122=) c.108A= (p.Glu36=) | |
14 | g.94382873T>A | CA390850164 | SERPINA1 | c.365A>T (p.Glu122Val) c.107A>T (p.Glu36Val) | |
14 | g.94382873T>C | CA390850165 | SERPINA1 | c.365A>G (p.Glu122Gly) c.107A>G (p.Glu36Gly) | |
14 | g.94382873T>G | CA390850167 | SERPINA1 | c.365A>C (p.Glu122Ala) c.107A>C (p.Glu36Ala) | |
14 | g.94382874C>A | CA390850168 | SERPINA1 | c.364G>T (p.Glu122Ter) c.106G>T (p.Glu36Ter) | |
14 | g.94382874C>G | CA390850170 | SERPINA1 | c.364G>C (p.Glu122Gln) c.106G>C (p.Glu36Gln) | |
14 | g.94382874C>T | CA390850172 | SERPINA1 | c.364G>A (p.Glu122Lys) c.106G>A (p.Glu36Lys) | COSMIC |
14 | g.94382875C>A | CA390850173 | SERPINA1 | c.363G>T (p.Gln121His) c.105G>T (p.Gln35His) | |
14 | g.94382875C>G | CA390850175 | SERPINA1 | c.363G>C (p.Gln121His) c.105G>C (p.Gln35His) | |
14 | g.94382875C>T | CA487841154 | SERPINA1 | c.363G>A (p.Gln121=) c.105G>A (p.Gln35=) | |
14 | g.94382876T>A | CA390850176 | SERPINA1 | c.362A>T (p.Gln121Leu) c.104A>T (p.Gln35Leu) | |
14 | g.94382876T>C | CA390850179 | SERPINA1 | c.362A>G (p.Gln121Arg) c.104A>G (p.Gln35Arg) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382876T>G | CA390850181 | SERPINA1 | c.362A>C (p.Gln121Pro) c.104A>C (p.Gln35Pro) | |
14 | g.94382876T= | CA2155954818 | SERPINA1 | c.362A= (p.Gln121=) c.104A= (p.Gln35=) | |
14 | g.94382877G>A | CA390850185 | SERPINA1 | c.361C>T (p.Gln121Ter) c.103C>T (p.Gln35Ter) | |
14 | g.94382877G>C | CA390850183 | SERPINA1 | c.361C>G (p.Gln121Glu) c.103C>G (p.Gln35Glu) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382877G= | CA2155954819 | SERPINA1 | c.361C= (p.Gln121=) c.103C= (p.Gln35=) | |
14 | g.94382877G>T | CA390850182 | SERPINA1 | c.361C>A (p.Gln121Lys) c.103C>A (p.Gln35Lys) | |
14 | g.94382878G>A | CA487841158 | SERPINA1 | c.360C>T (p.Phe120=) c.102C>T (p.Phe34=) | |
14 | g.94382878G>C | CA390850187 | SERPINA1 | c.360C>G (p.Phe120Leu) c.102C>G (p.Phe34Leu) | gnomAD v4 |
14 | g.94382878G>T | CA390850188 | SERPINA1 | c.360C>A (p.Phe120Leu) c.102C>A (p.Phe34Leu) | |
14 | g.94382879A>C | CA390850189 | SERPINA1 | c.359T>G (p.Phe120Cys) c.101T>G (p.Phe34Cys) | |
14 | g.94382879A>G | CA390850191 | SERPINA1 | c.359T>C (p.Phe120Ser) c.101T>C (p.Phe34Ser) | |
14 | g.94382879A>T | CA390850193 | SERPINA1 | c.359T>A (p.Phe120Tyr) c.101T>A (p.Phe34Tyr) | |
14 | g.94382880A>C | CA390850195 | SERPINA1 | c.358T>G (p.Phe120Val) c.100T>G (p.Phe34Val) | gnomAD v4 |
14 | g.94382880A>G | CA390850196 | SERPINA1 | c.358T>C (p.Phe120Leu) c.100T>C (p.Phe34Leu) | |
14 | g.94382880A>T | CA390850197 | SERPINA1 | c.358T>A (p.Phe120Ile) c.100T>A (p.Phe34Ile) | |
14 | g.94382881G>A | CA487841161 | SERPINA1 | c.357C>T (p.Gly119=) c.99C>T (p.Gly33=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382881G>C | CA487841165 | SERPINA1 | c.357C>G (p.Gly119=) c.99C>G (p.Gly33=) | |
14 | g.94382881G= | CA2155954820 | SERPINA1 | c.357C= (p.Gly119=) c.99C= (p.Gly33=) | |
14 | g.94382881G>T | CA487841168 | SERPINA1 | c.357C>A (p.Gly119=) c.99C>A (p.Gly33=) | |
14 | g.94382882C>A | CA265864148 | SERPINA1 | c.356G>T (p.Gly119Val) c.98G>T (p.Gly33Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382882C= | CA2155954821 | SERPINA1 | c.356G= (p.Gly119=) c.98G= (p.Gly33=) | |
14 | g.94382882C>G | CA265864149 | SERPINA1 | c.356G>C (p.Gly119Ala) c.98G>C (p.Gly33Ala) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382882C>T | CA390850200 | SERPINA1 | c.356G>A (p.Gly119Asp) c.98G>A (p.Gly33Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.94382883C>A | CA390850202 | SERPINA1 | c.355G>T (p.Gly119Cys) c.97G>T (p.Gly33Cys) | |
14 | g.94382883C>G | CA390850203 | SERPINA1 | c.355G>C (p.Gly119Arg) c.97G>C (p.Gly33Arg) | |
14 | g.94382883C>T | CA390850205 | SERPINA1 | c.355G>A (p.Gly119Ser) c.97G>A (p.Gly33Ser) | gnomAD v4 |
14 | g.94382883_94382884delinsCT | CA2155954822 | SERPINA1 | c.354_355delinsAG (p.Glu118=) c.96_97delinsAG (p.Glu32=) | |
14 | g.94382884T>A | CA390850206 | SERPINA1 | c.354A>T (p.Glu118Asp) c.96A>T (p.Glu32Asp) | |
14 | g.94382884T>C | CA487841174 | SERPINA1 | c.354A>G (p.Glu118=) c.96A>G (p.Glu32=) | ClinVar |
14 | g.94382884T>G | CA390850207 | SERPINA1 | c.354A>C (p.Glu118Asp) c.96A>C (p.Glu32Asp) | gnomAD v4 |
14 | g.94382885del | CA2155954823 | SERPINA1 | c.354del (p.Gly119AlafsTer18) c.96del (p.Gly33AlafsTer18) | dbSNP |
14 | g.94382885T>A | CA390850208 | SERPINA1 | c.353A>T (p.Glu118Val) c.95A>T (p.Glu32Val) | |
14 | g.94382885T>C | CA390850210 | SERPINA1 | c.353A>G (p.Glu118Gly) c.95A>G (p.Glu32Gly) | |
14 | g.94382885T>G | CA390850211 | SERPINA1 | c.353A>C (p.Glu118Ala) c.95A>C (p.Glu32Ala) | |
14 | g.94382886C>A | CA390850213 | SERPINA1 | c.352G>T (p.Glu118Ter) c.94G>T (p.Glu32Ter) | |
14 | g.94382886C>G | CA390850215 | SERPINA1 | c.352G>C (p.Glu118Gln) c.94G>C (p.Glu32Gln) | |
14 | g.94382886C>T | CA390850216 | SERPINA1 | c.352G>A (p.Glu118Lys) c.94G>A (p.Glu32Lys) | |
14 | g.94382886_94382887del | CA2695199867 | SERPINA1 | c.351_352del (p.His117GlnfsTer?) c.93_94del (p.His31GlnfsTer?) | ClinVar |
14 | g.94382887A= | CA2155954824 | SERPINA1 | c.351T= (p.His117=) c.93T= (p.His31=) | |
14 | g.94382887A>C | CA390850218 | SERPINA1 | c.351T>G (p.His117Gln) c.93T>G (p.His31Gln) | |
14 | g.94382887A>G | CA487841182 | SERPINA1 | c.351T>C (p.His117=) c.93T>C (p.His31=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382887A>T | CA390850219 | SERPINA1 | c.351T>A (p.His117Gln) c.93T>A (p.His31Gln) | gnomAD v4 |
14 | g.94382888T>A | CA390850221 | SERPINA1 | c.350A>T (p.His117Leu) c.92A>T (p.His31Leu) | |
14 | g.94382888T>C | CA390850223 | SERPINA1 | c.350A>G (p.His117Arg) c.92A>G (p.His31Arg) | gnomAD v4 |
14 | g.94382888T>G | CA390850224 | SERPINA1 | c.350A>C (p.His117Pro) c.92A>C (p.His31Pro) | |
14 | g.94382889G>A | CA390850226 | SERPINA1 | c.349C>T (p.His117Tyr) c.91C>T (p.His31Tyr) | ClinVar dbSNP |
14 | g.94382889G>C | CA390850229 | SERPINA1 | c.349C>G (p.His117Asp) c.91C>G (p.His31Asp) | |
14 | g.94382889G= | CA2155954825 | SERPINA1 | c.349C= (p.His117=) c.91C= (p.His31=) | |
14 | g.94382889G>T | CA390850227 | SERPINA1 | c.349C>A (p.His117Asn) c.91C>A (p.His31Asn) | |
14 | g.94382890G>A | CA487841193 | SERPINA1 | c.348C>T (p.Ile116=) c.90C>T (p.Ile30=) | gnomAD v4 |
14 | g.94382890G>C | CA7327511 | SERPINA1 | c.348C>G (p.Ile116Met) c.90C>G (p.Ile30Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382890G= | CA2155954826 | SERPINA1 | c.348C= (p.Ile116=) c.90C= (p.Ile30=) | |
14 | g.94382890G>T | CA487841194 | SERPINA1 | c.348C>A (p.Ile116=) c.90C>A (p.Ile30=) | dbSNP |
14 | g.94382891A= | CA2155954827 | SERPINA1 | c.347T= (p.Ile116=) c.89T= (p.Ile30=) | |
14 | g.94382891A>C | CA390850230 | SERPINA1 | c.347T>G (p.Ile116Ser) c.89T>G (p.Ile30Ser) | |
14 | g.94382891A>G | CA390850232 | SERPINA1 | c.347T>C (p.Ile116Thr) c.89T>C (p.Ile30Thr) | |
14 | g.94382891A>T | CA127736 | SERPINA1 | c.347T>A (p.Ile116Asn) c.89T>A (p.Ile30Asn) | ClinVar dbSNP |
14 | g.94382892T>A | CA390850234 | SERPINA1 | c.346A>T (p.Ile116Phe) c.88A>T (p.Ile30Phe) | |
14 | g.94382892T>C | CA265864153 | SERPINA1 | c.346A>G (p.Ile116Val) c.88A>G (p.Ile30Val) | dbSNP |
14 | g.94382892T>G | CA390850236 | SERPINA1 | c.346A>C (p.Ile116Leu) c.88A>C (p.Ile30Leu) | |
14 | g.94382892T= | CA2155954828 | SERPINA1 | c.346A= (p.Ile116=) c.88A= (p.Ile30=) | |
14 | g.94382893C>A | CA390850239 | SERPINA1 | c.345G>T (p.Gln115His) c.87G>T (p.Gln29His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382893C= | CA2155954829 | SERPINA1 | c.345G= (p.Gln115=) c.87G= (p.Gln29=) | |
14 | g.94382893C>G | CA390850237 | SERPINA1 | c.345G>C (p.Gln115His) c.87G>C (p.Gln29His) | |
14 | g.94382893C>T | CA487841204 | SERPINA1 | c.345G>A (p.Gln115=) c.87G>A (p.Gln29=) | gnomAD v4 |
14 | g.94382894T>A | CA390850241 | SERPINA1 | c.344A>T (p.Gln115Leu) c.86A>T (p.Gln29Leu) | gnomAD v4 |
14 | g.94382894T>C | CA390850243 | SERPINA1 | c.344A>G (p.Gln115Arg) c.86A>G (p.Gln29Arg) | |
14 | g.94382894T>G | CA390850244 | SERPINA1 | c.344A>C (p.Gln115Pro) c.86A>C (p.Gln29Pro) | |
14 | g.94382895G>A | CA390850245 | SERPINA1 | c.343C>T (p.Gln115Ter) c.85C>T (p.Gln29Ter) | ClinVar |
14 | g.94382895G>C | CA390850247 | SERPINA1 | c.343C>G (p.Gln115Glu) c.85C>G (p.Gln29Glu) | dbSNP gnomAD v4 |
14 | g.94382895G= | CA2155954830 | SERPINA1 | c.343C= (p.Gln115=) c.85C= (p.Gln29=) | |
14 | g.94382895G>T | CA390850249 | SERPINA1 | c.343C>A (p.Gln115Lys) c.85C>A (p.Gln29Lys) | |
14 | g.94382896A>C | CA487841211 | SERPINA1 | c.342T>G (p.Ala114=) c.84T>G (p.Ala28=) | |
14 | g.94382896A>G | CA487841213 | SERPINA1 | c.342T>C (p.Ala114=) c.84T>C (p.Ala28=) | |
14 | g.94382896A>T | CA487841215 | SERPINA1 | c.342T>A (p.Ala114=) c.84T>A (p.Ala28=) | |
14 | g.94382897G>A | CA390850250 | SERPINA1 | c.341C>T (p.Ala114Val) c.83C>T (p.Ala28Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382897G>C | CA390850253 | SERPINA1 | c.341C>G (p.Ala114Gly) c.83C>G (p.Ala28Gly) | |
14 | g.94382897G= | CA2155954831 | SERPINA1 | c.341C= (p.Ala114=) c.83C= (p.Ala28=) | |
14 | g.94382897G>T | CA390850252 | SERPINA1 | c.341C>A (p.Ala114Asp) c.83C>A (p.Ala28Asp) | |
14 | g.94382898C>A | CA390850255 | SERPINA1 | c.340G>T (p.Ala114Ser) c.82G>T (p.Ala28Ser) | dbSNP gnomAD v4 |
14 | g.94382898C= | CA2155954832 | SERPINA1 | c.340G= (p.Ala114=) c.82G= (p.Ala28=) | |
14 | g.94382898C>G | CA390850257 | SERPINA1 | c.340G>C (p.Ala114Pro) c.82G>C (p.Ala28Pro) | |
14 | g.94382898C>T | CA390850259 | SERPINA1 | c.340G>A (p.Ala114Thr) c.82G>A (p.Ala28Thr) | |
14 | g.94382899C>A | CA390850260 | SERPINA1 | c.339G>T (p.Glu113Asp) c.81G>T (p.Glu27Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382899C= | CA2155954833 | SERPINA1 | c.339G= (p.Glu113=) c.81G= (p.Glu27=) | |
14 | g.94382899C>G | CA390850261 | SERPINA1 | c.339G>C (p.Glu113Asp) c.81G>C (p.Glu27Asp) | |
14 | g.94382899C>T | CA487841220 | SERPINA1 | c.339G>A (p.Glu113=) c.81G>A (p.Glu27=) | gnomAD v4 |
14 | g.94382900T>A | CA390850263 | SERPINA1 | c.338A>T (p.Glu113Val) c.80A>T (p.Glu27Val) | |
14 | g.94382900T>C | CA390850265 | SERPINA1 | c.338A>G (p.Glu113Gly) c.80A>G (p.Glu27Gly) | |
14 | g.94382900T>G | CA390850267 | SERPINA1 | c.338A>C (p.Glu113Ala) c.80A>C (p.Glu27Ala) | |
14 | g.94382901C>A | CA390850268 | SERPINA1 | c.337G>T (p.Glu113Ter) c.79G>T (p.Glu27Ter) | |
14 | g.94382901C= | CA2155954834 | SERPINA1 | c.337G= (p.Glu113=) c.79G= (p.Glu27=) | |
14 | g.94382901C>G | CA390850270 | SERPINA1 | c.337G>C (p.Glu113Gln) c.79G>C (p.Glu27Gln) | |
14 | g.94382901C>T | CA7327512 | SERPINA1 | c.337G>A (p.Glu113Lys) c.79G>A (p.Glu27Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382902C>A | CA487841230 | SERPINA1 | c.336G>T (p.Pro112=) c.78G>T (p.Pro26=) | |
14 | g.94382902C= | CA2155954835 | SERPINA1 | c.336G= (p.Pro112=) c.78G= (p.Pro26=) | |
14 | g.94382902C>G | CA487841231 | SERPINA1 | c.336G>C (p.Pro112=) c.78G>C (p.Pro26=) | |
14 | g.94382902C>T | CA7327513 | SERPINA1 | c.336G>A (p.Pro112=) c.78G>A (p.Pro26=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382903G>A | CA7327514 | SERPINA1 | c.335C>T (p.Pro112Leu) c.77C>T (p.Pro26Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94382903G>C | CA390850273 | SERPINA1 | c.335C>G (p.Pro112Arg) c.77C>G (p.Pro26Arg) | |
14 | g.94382903G= | CA2155954836 | SERPINA1 | c.335C= (p.Pro112=) c.77C= (p.Pro26=) | |
14 | g.94382903G>T | CA390850274 | SERPINA1 | c.335C>A (p.Pro112Gln) c.77C>A (p.Pro26Gln) | |
14 | g.94382904G>A | CA390850277 | SERPINA1 | c.334C>T (p.Pro112Ser) c.76C>T (p.Pro26Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382904G>C | CA390850278 | SERPINA1 | c.334C>G (p.Pro112Ala) c.76C>G (p.Pro26Ala) | |
14 | g.94382904G= | CA2155954837 | SERPINA1 | c.334C= (p.Pro112=) c.76C= (p.Pro26=) | |
14 | g.94382904G>T | CA10606617 | SERPINA1 | c.334C>A (p.Pro112Thr) c.76C>A (p.Pro26Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382905A= | CA2155954838 | SERPINA1 | c.333T= (p.Ile111=) c.75T= (p.Ile25=) | |
14 | g.94382905A>C | CA10641355 | SERPINA1 | c.333T>G (p.Ile111Met) c.75T>G (p.Ile25Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382905A>G | CA487841235 | SERPINA1 | c.333T>C (p.Ile111=) c.75T>C (p.Ile25=) | |
14 | g.94382905A>T | CA487841234 | SERPINA1 | c.333T>A (p.Ile111=) c.75T>A (p.Ile25=) | |
14 | g.94382906A>C | CA390850282 | SERPINA1 | c.332T>G (p.Ile111Ser) c.74T>G (p.Ile25Ser) | |
14 | g.94382906A>G | CA390850283 | SERPINA1 | c.332T>C (p.Ile111Thr) c.74T>C (p.Ile25Thr) | gnomAD v4 |
14 | g.94382906A>T | CA390850285 | SERPINA1 | c.332T>A (p.Ile111Asn) c.74T>A (p.Ile25Asn) | |
14 | g.94382907T>A | CA390850287 | SERPINA1 | c.331A>T (p.Ile111Phe) c.73A>T (p.Ile25Phe) | |
14 | g.94382907T>C | CA390850289 | SERPINA1 | c.331A>G (p.Ile111Val) c.73A>G (p.Ile25Val) | gnomAD v4 |
14 | g.94382907T>G | CA390850290 | SERPINA1 | c.331A>C (p.Ile111Leu) c.73A>C (p.Ile25Leu) | |
14 | g.94382908C>A | CA390850292 | SERPINA1 | c.330G>T (p.Glu110Asp) c.72G>T (p.Glu24Asp) | gnomAD v4 |
14 | g.94382908C>G | CA390850294 | SERPINA1 | c.330G>C (p.Glu110Asp) c.72G>C (p.Glu24Asp) | |
14 | g.94382908C>T | CA487841243 | SERPINA1 | c.330G>A (p.Glu110=) c.72G>A (p.Glu24=) | |
14 | g.94382909T>A | CA390850298 | SERPINA1 | c.329A>T (p.Glu110Val) c.71A>T (p.Glu24Val) | |
14 | g.94382909T>C | CA390850297 | SERPINA1 | c.329A>G (p.Glu110Gly) c.71A>G (p.Glu24Gly) | |
14 | g.94382909T>G | CA390850295 | SERPINA1 | c.329A>C (p.Glu110Ala) c.71A>C (p.Glu24Ala) | |
14 | g.94382910C>A | CA390850300 | SERPINA1 | c.328G>T (p.Glu110Ter) c.70G>T (p.Glu24Ter) | |
14 | g.94382910C>G | CA390850302 | SERPINA1 | c.328G>C (p.Glu110Gln) c.70G>C (p.Glu24Gln) | |
14 | g.94382910C>T | CA390850303 | SERPINA1 | c.328G>A (p.Glu110Lys) c.70G>A (p.Glu24Lys) | COSMIC |
14 | g.94382911C>A | CA487841244 | SERPINA1 | c.327G>T (p.Thr109=) c.69G>T (p.Thr23=) | dbSNP |
14 | g.94382911C= | CA2155954839 | SERPINA1 | c.327G= (p.Thr109=) c.69G= (p.Thr23=) | |
14 | g.94382911C>G | CA487841247 | SERPINA1 | c.327G>C (p.Thr109=) c.69G>C (p.Thr23=) | |
14 | g.94382911C>T | CA7327515 | SERPINA1 | c.327G>A (p.Thr109=) c.69G>A (p.Thr23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94382912G>A | CA127741 | SERPINA1 | c.326C>T (p.Thr109Met) c.68C>T (p.Thr23Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94382912G>C | CA390850307 | SERPINA1 | c.326C>G (p.Thr109Arg) c.68C>G (p.Thr23Arg) | |
14 | g.94382912G= | CA2155954840 | SERPINA1 | c.326C= (p.Thr109=) c.68C= (p.Thr23=) | |
14 | g.94382912G>T | CA390850308 | SERPINA1 | c.326C>A (p.Thr109Lys) c.68C>A (p.Thr23Lys) | |
14 | g.94382913T>A | CA390850309 | SERPINA1 | c.325A>T (p.Thr109Ser) c.67A>T (p.Thr23Ser) | |
14 | g.94382913T>C | CA390850310 | SERPINA1 | c.325A>G (p.Thr109Ala) c.67A>G (p.Thr23Ala) | |
14 | g.94382913T>G | CA390850311 | SERPINA1 | c.325A>C (p.Thr109Pro) c.67A>C (p.Thr23Pro) | gnomAD v4 |
14 | g.94382914G>A | CA487841253 | SERPINA1 | c.324C>T (p.Leu108=) c.66C>T (p.Leu22=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382914G>C | CA487841254 | SERPINA1 | c.324C>G (p.Leu108=) c.66C>G (p.Leu22=) | |
14 | g.94382914G= | CA2155954841 | SERPINA1 | c.324C= (p.Leu108=) c.66C= (p.Leu22=) | |
14 | g.94382914G>T | CA487841255 | SERPINA1 | c.324C>A (p.Leu108=) c.66C>A (p.Leu22=) | |
14 | g.94382915A= | CA2155954842 | SERPINA1 | c.323T= (p.Leu108=) c.65T= (p.Leu22=) | |
14 | g.94382915A>C | CA265864158 | SERPINA1 | c.323T>G (p.Leu108Arg) c.65T>G (p.Leu22Arg) | dbSNP gnomAD v4 |
14 | g.94382915A>G | CA390850312 | SERPINA1 | c.323T>C (p.Leu108Pro) c.65T>C (p.Leu22Pro) | |
14 | g.94382915A>T | CA390850313 | SERPINA1 | c.323T>A (p.Leu108His) c.65T>A (p.Leu22His) | dbSNP |
14 | g.94382916G>A | CA390850315 | SERPINA1 | c.322C>T (p.Leu108Phe) c.64C>T (p.Leu22Phe) | |
14 | g.94382916G>C | CA265864160 | SERPINA1 | c.322C>G (p.Leu108Val) c.64C>G (p.Leu22Val) | dbSNP gnomAD v4 |
14 | g.94382916G= | CA2155954843 | SERPINA1 | c.322C= (p.Leu108=) c.64C= (p.Leu22=) | |
14 | g.94382916G>T | CA390850314 | SERPINA1 | c.322C>A (p.Leu108Ile) c.64C>A (p.Leu22Ile) | |
14 | g.94382917G>A | CA487841263 | SERPINA1 | c.321C>T (p.Asn107=) c.63C>T (p.Asn21=) | ClinVar dbSNP gnomAD v4 |
14 | g.94382917G>C | CA390850316 | SERPINA1 | c.321C>G (p.Asn107Lys) c.63C>G (p.Asn21Lys) | |
14 | g.94382917G= | CA2155954844 | SERPINA1 | c.321C= (p.Asn107=) c.63C= (p.Asn21=) | |
14 | g.94382917G>T | CA390850317 | SERPINA1 | c.321C>A (p.Asn107Lys) c.63C>A (p.Asn21Lys) | |
14 | g.94382918T>A | CA390850318 | SERPINA1 | c.320A>T (p.Asn107Ile) c.62A>T (p.Asn21Ile) | |
14 | g.94382918T>C | CA390850319 | SERPINA1 | c.320A>G (p.Asn107Ser) c.62A>G (p.Asn21Ser) | |
14 | g.94382918T>G | CA390850320 | SERPINA1 | c.320A>C (p.Asn107Thr) c.62A>C (p.Asn21Thr) | |
14 | g.94382919T>A | CA390850321 | SERPINA1 | c.319A>T (p.Asn107Tyr) c.61A>T (p.Asn21Tyr) | |
14 | g.94382919T>C | CA390850322 | SERPINA1 | c.319A>G (p.Asn107Asp) c.61A>G (p.Asn21Asp) | |
14 | g.94382919T>G | CA390850323 | SERPINA1 | c.319A>C (p.Asn107His) c.61A>C (p.Asn21His) | |
14 | g.94382920G>A | CA487841277 | SERPINA1 | c.318C>T (p.Phe106=) c.60C>T (p.Phe20=) | ClinVar dbSNP gnomAD v2 COSMIC |
14 | g.94382920G>C | CA390850324 | SERPINA1 | c.318C>G (p.Phe106Leu) c.60C>G (p.Phe20Leu) | |
14 | g.94382920G= | CA2155954845 | SERPINA1 | c.318C= (p.Phe106=) c.60C= (p.Phe20=) | |
14 | g.94382920G>T | CA390850325 | SERPINA1 | c.318C>A (p.Phe106Leu) c.60C>A (p.Phe20Leu) | dbSNP |
14 | g.94382921A>C | CA390850326 | SERPINA1 | c.317T>G (p.Phe106Cys) c.59T>G (p.Phe20Cys) | |
14 | g.94382921A>G | CA390850327 | SERPINA1 | c.317T>C (p.Phe106Ser) c.59T>C (p.Phe20Ser) | |
14 | g.94382921A>T | CA390850328 | SERPINA1 | c.317T>A (p.Phe106Tyr) c.59T>A (p.Phe20Tyr) | |
14 | g.94382922A>C | CA390850331 | SERPINA1 | c.316T>G (p.Phe106Val) c.58T>G (p.Phe20Val) | |
14 | g.94382922A>G | CA390850330 | SERPINA1 | c.316T>C (p.Phe106Leu) c.58T>C (p.Phe20Leu) | |
14 | g.94382922A>T | CA390850329 | SERPINA1 | c.316T>A (p.Phe106Ile) c.58T>A (p.Phe20Ile) | |
14 | g.94382923A>C | CA390850332 | SERPINA1 | c.315T>G (p.Asn105Lys) c.57T>G (p.Asn19Lys) | |
14 | g.94382923A>G | CA487841283 | SERPINA1 | c.315T>C (p.Asn105=) c.57T>C (p.Asn19=) | |
14 | g.94382923A>T | CA390850333 | SERPINA1 | c.315T>A (p.Asn105Lys) c.57T>A (p.Asn19Lys) | |
14 | g.94382924T>A | CA390850334 | SERPINA1 | c.314A>T (p.Asn105Ile) c.56A>T (p.Asn19Ile) | |
14 | g.94382924T>C | CA390850335 | SERPINA1 | c.314A>G (p.Asn105Ser) c.56A>G (p.Asn19Ser) | |
14 | g.94382924T>G | CA390850336 | SERPINA1 | c.314A>C (p.Asn105Thr) c.56A>C (p.Asn19Thr) | |
14 | g.94382925T>A | CA390850337 | SERPINA1 | c.313A>T (p.Asn105Tyr) c.55A>T (p.Asn19Tyr) | |
14 | g.94382925T>C | CA7327516 | SERPINA1 | c.313A>G (p.Asn105Asp) c.55A>G (p.Asn19Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382925T>G | CA390850338 | SERPINA1 | c.313A>C (p.Asn105His) c.55A>C (p.Asn19His) | |
14 | g.94382925T= | CA2155954846 | SERPINA1 | c.313A= (p.Asn105=) c.55A= (p.Asn19=) | |
14 | g.94382926C>A | CA487841290 | SERPINA1 | c.312G>T (p.Leu104=) c.54G>T (p.Leu18=) | |
14 | g.94382926C>G | CA487841289 | SERPINA1 | c.312G>C (p.Leu104=) c.54G>C (p.Leu18=) | |
14 | g.94382926C>T | CA487841288 | SERPINA1 | c.312G>A (p.Leu104=) c.54G>A (p.Leu18=) | |
14 | g.94382927A>C | CA390850339 | SERPINA1 | c.311T>G (p.Leu104Arg) c.53T>G (p.Leu18Arg) | |
14 | g.94382927A>G | CA390850340 | SERPINA1 | c.311T>C (p.Leu104Pro) c.53T>C (p.Leu18Pro) | |
14 | g.94382927A>T | CA390850341 | SERPINA1 | c.311T>A (p.Leu104Gln) c.53T>A (p.Leu18Gln) | |
14 | g.94382928G>A | CA487841292 | SERPINA1 | c.310C>T (p.Leu104=) c.52C>T (p.Leu18=) | gnomAD v4 |
14 | g.94382928G>C | CA390850342 | SERPINA1 | c.310C>G (p.Leu104Val) c.52C>G (p.Leu18Val) | |
14 | g.94382928G>T | CA390850343 | SERPINA1 | c.310C>A (p.Leu104Met) c.52C>A (p.Leu18Met) | |
14 | g.94382929G>A | CA487841298 | SERPINA1 | c.309C>T (p.Gly103=) c.51C>T (p.Gly17=) | |
14 | g.94382929G>C | CA487841296 | SERPINA1 | c.309C>G (p.Gly103=) c.51C>G (p.Gly17=) | |
14 | g.94382929G>T | CA487841295 | SERPINA1 | c.309C>A (p.Gly103=) c.51C>A (p.Gly17=) | |
14 | g.94382930C>A | CA390850345 | SERPINA1 | c.308G>T (p.Gly103Val) c.50G>T (p.Gly17Val) | gnomAD v4 |
14 | g.94382930C>G | CA390850346 | SERPINA1 | c.308G>C (p.Gly103Ala) c.50G>C (p.Gly17Ala) | |
14 | g.94382930C>T | CA390850344 | SERPINA1 | c.308G>A (p.Gly103Asp) c.50G>A (p.Gly17Asp) | |
14 | g.94382932del | CA2730054620 | SERPINA1 | c.308del (p.Gly103AlafsTer2) c.50del (p.Gly17AlafsTer2) | dbSNP |
14 | g.94382931C>A | CA390850347 | SERPINA1 | c.307G>T (p.Gly103Cys) c.49G>T (p.Gly17Cys) | |
14 | g.94382931C>G | CA390850348 | SERPINA1 | c.307G>C (p.Gly103Arg) c.49G>C (p.Gly17Arg) | |
14 | g.94382931C>T | CA390850349 | SERPINA1 | c.307G>A (p.Gly103Ser) c.49G>A (p.Gly17Ser) | |
14 | g.94382932C>A | CA390850350 | SERPINA1 | c.306G>T (p.Glu102Asp) c.48G>T (p.Glu16Asp) | |
14 | g.94382932C>G | CA390850351 | SERPINA1 | c.306G>C (p.Glu102Asp) c.48G>C (p.Glu16Asp) | |
14 | g.94382932C>T | CA487841303 | SERPINA1 | c.306G>A (p.Glu102=) c.48G>A (p.Glu16=) | gnomAD v4 |
14 | g.94382933T>A | CA390850352 | SERPINA1 | c.305A>T (p.Glu102Val) c.47A>T (p.Glu16Val) | dbSNP |
14 | g.94382933T>C | CA390850353 | SERPINA1 | c.305A>G (p.Glu102Gly) c.47A>G (p.Glu16Gly) | gnomAD v4 |
14 | g.94382933T>G | CA390850354 | SERPINA1 | c.305A>C (p.Glu102Ala) c.47A>C (p.Glu16Ala) | |
14 | g.94382933T= | CA2155954847 | SERPINA1 | c.305A= (p.Glu102=) c.47A= (p.Glu16=) | |
14 | g.94382934C>A | CA390850355 | SERPINA1 | c.304G>T (p.Glu102Ter) c.46G>T (p.Glu16Ter) | |
14 | g.94382934C= | CA2155954848 | SERPINA1 | c.304G= (p.Glu102=) c.46G= (p.Glu16=) | |
14 | g.94382934C>G | CA390850356 | SERPINA1 | c.304G>C (p.Glu102Gln) c.46G>C (p.Glu16Gln) | |
14 | g.94382934C>T | CA390850357 | SERPINA1 | c.304G>A (p.Glu102Lys) c.46G>A (p.Glu16Lys) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382935C>A | CA487841308 | SERPINA1 | c.303G>T (p.Leu101=) c.45G>T (p.Leu15=) | |
14 | g.94382935C>G | CA487841310 | SERPINA1 | c.303G>C (p.Leu101=) c.45G>C (p.Leu15=) | |
14 | g.94382935C>T | CA487841311 | SERPINA1 | c.303G>A (p.Leu101=) c.45G>A (p.Leu15=) | dbSNP |
14 | g.94382936A>C | CA390850360 | SERPINA1 | c.302T>G (p.Leu101Arg) c.44T>G (p.Leu15Arg) | |
14 | g.94382936A>G | CA390850359 | SERPINA1 | c.302T>C (p.Leu101Pro) c.44T>C (p.Leu15Pro) | |
14 | g.94382936A>T | CA390850358 | SERPINA1 | c.302T>A (p.Leu101Gln) c.44T>A (p.Leu15Gln) | |
14 | g.94382937G>A | CA487841313 | SERPINA1 | c.301C>T (p.Leu101=) c.43C>T (p.Leu15=) | gnomAD v4 |
14 | g.94382937G>C | CA390850361 | SERPINA1 | c.301C>G (p.Leu101Val) c.43C>G (p.Leu15Val) | |
14 | g.94382937G>T | CA390850362 | SERPINA1 | c.301C>A (p.Leu101Met) c.43C>A (p.Leu15Met) | |
14 | g.94382938G>A | CA487841316 | SERPINA1 | c.300C>T (p.Ile100=) c.42C>T (p.Ile14=) | |
14 | g.94382938G>C | CA390850363 | SERPINA1 | c.300C>G (p.Ile100Met) c.42C>G (p.Ile14Met) | |
14 | g.94382938G>T | CA487841319 | SERPINA1 | c.300C>A (p.Ile100=) c.42C>A (p.Ile14=) | |
14 | g.94382939A= | CA2155954849 | SERPINA1 | c.299T= (p.Ile100=) c.41T= (p.Ile14=) | |
14 | g.94382939A>C | CA390850364 | SERPINA1 | c.299T>G (p.Ile100Ser) c.41T>G (p.Ile14Ser) | |
14 | g.94382939A>G | CA390850365 | SERPINA1 | c.299T>C (p.Ile100Thr) c.41T>C (p.Ile14Thr) | |
14 | g.94382939A>T | CA390850366 | SERPINA1 | c.299T>A (p.Ile100Asn) c.41T>A (p.Ile14Asn) | ClinVar dbSNP gnomAD v4 |
14 | g.94382940T>A | CA390850367 | SERPINA1 | c.298A>T (p.Ile100Phe) c.40A>T (p.Ile14Phe) | |
14 | g.94382940T>C | CA390850368 | SERPINA1 | c.298A>G (p.Ile100Val) c.40A>G (p.Ile14Val) | gnomAD v4 |
14 | g.94382940T>G | CA390850369 | SERPINA1 | c.298A>C (p.Ile100Leu) c.40A>C (p.Ile14Leu) | |
14 | g.94382941T>A | CA390850370 | SERPINA1 | c.297A>T (p.Glu99Asp) c.39A>T (p.Glu13Asp) | dbSNP gnomAD v4 |
14 | g.94382941T>C | CA487841324 | SERPINA1 | c.297A>G (p.Glu99=) c.39A>G (p.Glu13=) | |
14 | g.94382941T>G | CA390850371 | SERPINA1 | c.297A>C (p.Glu99Asp) c.39A>C (p.Glu13Asp) | ClinVar dbSNP |
14 | g.94382941T= | CA2155954850 | SERPINA1 | c.297A= (p.Glu99=) c.39A= (p.Glu13=) | |
14 | g.94382942T>A | CA390850374 | SERPINA1 | c.296A>T (p.Glu99Val) c.38A>T (p.Glu13Val) | |
14 | g.94382942T>C | CA390850373 | SERPINA1 | c.296A>G (p.Glu99Gly) c.38A>G (p.Glu13Gly) | |
14 | g.94382942T>G | CA390850372 | SERPINA1 | c.296A>C (p.Glu99Ala) c.38A>C (p.Glu13Ala) | |
14 | g.94382943C>A | CA390850375 | SERPINA1 | c.295G>T (p.Glu99Ter) c.37G>T (p.Glu13Ter) | |
14 | g.94382943C>G | CA390850377 | SERPINA1 | c.295G>C (p.Glu99Gln) c.37G>C (p.Glu13Gln) | |
14 | g.94382943C>T | CA390850376 | SERPINA1 | c.295G>A (p.Glu99Lys) c.37G>A (p.Glu13Lys) | dbSNP |
14 | g.94382943_94382944insCACCAACACCCACCAAACACACCCAACC | CA2802663977 | SERPINA1 | c.295_296insGTTGGGTGTGTTTGGTGGGTGTTGGTGG (p.Glu99GlyfsTer29) c.37_38insGTTGGGTGTGTTTGGTGGGTGTTGGTGG (p.Glu13GlyfsTer29) c.295_296insGTTGGGTGTGTTTGGTGGGTGTTGGTGG (p.Glu99GlyfsTer?) | |
14 | g.94382944A>C | CA390850378 | SERPINA1 | c.294T>G (p.Asp98Glu) c.36T>G (p.Asp12Glu) | |
14 | g.94382944A>G | CA487841329 | SERPINA1 | c.294T>C (p.Asp98=) c.36T>C (p.Asp12=) | ClinVar |
14 | g.94382944A>T | CA390850379 | SERPINA1 | c.294T>A (p.Asp98Glu) c.36T>A (p.Asp12Glu) | |
14 | g.94382945T>A | CA390850380 | SERPINA1 | c.293A>T (p.Asp98Val) c.35A>T (p.Asp12Val) | dbSNP |
14 | g.94382945T>C | CA390850382 | SERPINA1 | c.293A>G (p.Asp98Gly) c.35A>G (p.Asp12Gly) | gnomAD v4 |
14 | g.94382945T>G | CA390850381 | SERPINA1 | c.293A>C (p.Asp98Ala) c.35A>C (p.Asp12Ala) | |
14 | g.94382945T= | CA2155954851 | SERPINA1 | c.293A= (p.Asp98=) c.35A= (p.Asp12=) | |
14 | g.94382946C>A | CA390850383 | SERPINA1 | c.292G>T (p.Asp98Tyr) c.34G>T (p.Asp12Tyr) | |
14 | g.94382946C= | CA2155954852 | SERPINA1 | c.292G= (p.Asp98=) c.34G= (p.Asp12=) | |
14 | g.94382946C>G | CA390850384 | SERPINA1 | c.292G>C (p.Asp98His) c.34G>C (p.Asp12His) | |
14 | g.94382946C>T | CA265864162 | SERPINA1 | c.292G>A (p.Asp98Asn) c.34G>A (p.Asp12Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94382946_94382950delinsCGTGA | CA2155954853 | SERPINA1 | c.288_292delinsTCACG (p.Thr96=) c.30_34delinsTCACG (p.Thr10=) | |
14 | g.94382947G>A | CA7327517 | SERPINA1 | c.291C>T (p.His97=) c.33C>T (p.His11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382947G>C | CA265864165 | SERPINA1 | c.291C>G (p.His97Gln) c.33C>G (p.His11Gln) | dbSNP gnomAD v4 |
14 | g.94382947G= | CA2155954854 | SERPINA1 | c.291C= (p.His97=) c.33C= (p.His11=) | |
14 | g.94382947G>T | CA265864167 | SERPINA1 | c.291C>A (p.His97Gln) c.33C>A (p.His11Gln) | dbSNP gnomAD v4 |
14 | g.94382950_94382953del | CA16040627 | SERPINA1 | c.288_291del (p.His97MetfsTer7) c.30_33del (p.His11MetfsTer7) | ClinVar dbSNP |
14 | g.94382948T>A | CA390850385 | SERPINA1 | c.290A>T (p.His97Leu) c.32A>T (p.His11Leu) | |
14 | g.94382948T>C | CA390850386 | SERPINA1 | c.290A>G (p.His97Arg) c.32A>G (p.His11Arg) | |
14 | g.94382948T>G | CA390850387 | SERPINA1 | c.290A>C (p.His97Pro) c.32A>C (p.His11Pro) | |
14 | g.94382948dup | CA2155954855 | SERPINA1 | c.290dup (p.His97GlnfsTer3) c.32dup (p.His11GlnfsTer3) | dbSNP |
14 | g.94382949G>A | CA390850388 | SERPINA1 | c.289C>T (p.His97Tyr) c.31C>T (p.His11Tyr) | |
14 | g.94382949G>C | CA390850389 | SERPINA1 | c.289C>G (p.His97Asp) c.31C>G (p.His11Asp) | |
14 | g.94382949G>T | CA390850390 | SERPINA1 | c.289C>A (p.His97Asn) c.31C>A (p.His11Asn) | |
14 | g.94382950A= | CA2155954856 | SERPINA1 | c.288T= (p.Thr96=) c.30T= (p.Thr10=) | |
14 | g.94382950A>C | CA487841341 | SERPINA1 | c.288T>G (p.Thr96=) c.30T>G (p.Thr10=) | |
14 | g.94382950A>G | CA487841342 | SERPINA1 | c.288T>C (p.Thr96=) c.30T>C (p.Thr10=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382950A>T | CA487841343 | SERPINA1 | c.288T>A (p.Thr96=) c.30T>A (p.Thr10=) | |
14 | g.94382951G>A | CA390850393 | SERPINA1 | c.287C>T (p.Thr96Ile) c.29C>T (p.Thr10Ile) | dbSNP COSMIC |
14 | g.94382951G>C | CA390850392 | SERPINA1 | c.287C>G (p.Thr96Ser) c.29C>G (p.Thr10Ser) | |
14 | g.94382951G= | CA2155954857 | SERPINA1 | c.287C= (p.Thr96=) c.29C= (p.Thr10=) | |
14 | g.94382951G>T | CA390850391 | SERPINA1 | c.287C>A (p.Thr96Asn) c.29C>A (p.Thr10Asn) | gnomAD v4 |
14 | g.94382953_94382954dup | CA2695219662 | SERPINA1 | c.286_287dup (p.His97LeufsTer9) c.28_29dup (p.His11LeufsTer9) | |
14 | g.94382952T>A | CA390850394 | SERPINA1 | c.286A>T (p.Thr96Ser) c.28A>T (p.Thr10Ser) | |
14 | g.94382952T>C | CA7327518 | SERPINA1 | c.286A>G (p.Thr96Ala) c.28A>G (p.Thr10Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382952T>G | CA390850395 | SERPINA1 | c.286A>C (p.Thr96Pro) c.28A>C (p.Thr10Pro) | |
14 | g.94382952T= | CA2155954858 | SERPINA1 | c.286A= (p.Thr96=) c.28A= (p.Thr10=) |