UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.18526412A>C | CA408360105 | SEC23B | c.874A>C (p.Thr292Pro) c.820A>C (p.Thr274Pro) | |
| 20 | g.18526412A>G | CA408360106 | SEC23B | c.874A>G (p.Thr292Ala) c.820A>G (p.Thr274Ala) | |
| 20 | g.18526412A>T | CA408360104 | SEC23B | c.874A>T (p.Thr292Ser) c.820A>T (p.Thr274Ser) | |
| 20 | g.18526412_18526413insTG | CA2652042525 | SEC23B | c.874_875insTG (p.Thr292MetfsTer18) c.820_821insTG (p.Thr274MetfsTer18) | gnomAD v4 |
| 20 | g.18526413C>A | CA408360107 | SEC23B | c.875C>A (p.Thr292Asn) c.821C>A (p.Thr274Asn) | |
| 20 | g.18526413C>G | CA408360108 | SEC23B | c.875C>G (p.Thr292Ser) c.821C>G (p.Thr274Ser) | |
| 20 | g.18526413C>T | CA408360109 | SEC23B | c.875C>T (p.Thr292Ile) c.821C>T (p.Thr274Ile) | ClinVar |
| 20 | g.18526414T>A | CA509826675 | SEC23B | c.876T>A (p.Thr292=) c.822T>A (p.Thr274=) | |
| 20 | g.18526414T>C | CA509826676 | SEC23B | c.876T>C (p.Thr292=) c.822T>C (p.Thr274=) | dbSNP |
| 20 | g.18526414T>G | CA509826677 | SEC23B | c.876T>G (p.Thr292=) c.822T>G (p.Thr274=) | gnomAD v4 |
| 20 | g.18526414T= | CA2353557126 | SEC23B | c.876T= (p.Thr292=) c.822T= (p.Thr274=) | |
| 20 | g.18526415G>A | CA312396275 | SEC23B | c.877G>A (p.Gly293Arg) c.823G>A (p.Gly275Arg) | dbSNP gnomAD v4 |
| 20 | g.18526415G>C | CA408360110 | SEC23B | c.877G>C (p.Gly293Arg) c.823G>C (p.Gly275Arg) | |
| 20 | g.18526415G= | CA2353557127 | SEC23B | c.877G= (p.Gly293=) c.823G= (p.Gly275=) | |
| 20 | g.18526415G>T | CA408360111 | SEC23B | c.877G>T (p.Gly293Ter) c.823G>T (p.Gly275Ter) | gnomAD v4 |
| 20 | g.18526416G>A | CA408360112 | SEC23B | c.878G>A (p.Gly293Glu) c.824G>A (p.Gly275Glu) | |
| 20 | g.18526416G>C | CA408360113 | SEC23B | c.878G>C (p.Gly293Ala) c.824G>C (p.Gly275Ala) | |
| 20 | g.18526416G>T | CA408360114 | SEC23B | c.878G>T (p.Gly293Val) c.824G>T (p.Gly275Val) | |
| 20 | g.18526417A>C | CA509826678 | SEC23B | c.879A>C (p.Gly293=) c.825A>C (p.Gly275=) | |
| 20 | g.18526417A>G | CA509826679 | SEC23B | c.879A>G (p.Gly293=) c.825A>G (p.Gly275=) | ClinVar gnomAD v4 |
| 20 | g.18526417A>T | CA509826680 | SEC23B | c.879A>T (p.Gly293=) c.825A>T (p.Gly275=) | gnomAD v4 |
| 20 | g.18526418G>A | CA408360115 | SEC23B | c.880G>A (p.Gly294Ser) c.826G>A (p.Gly276Ser) | gnomAD v4 |
| 20 | g.18526418G>C | CA408360116 | SEC23B | c.880G>C (p.Gly294Arg) c.826G>C (p.Gly276Arg) | |
| 20 | g.18526418G>T | CA408360117 | SEC23B | c.880G>T (p.Gly294Cys) c.826G>T (p.Gly276Cys) | |
| 20 | g.18526419G>A | CA408360120 | SEC23B | c.881G>A (p.Gly294Asp) c.827G>A (p.Gly276Asp) | |
| 20 | g.18526419G>C | CA408360119 | SEC23B | c.881G>C (p.Gly294Ala) c.827G>C (p.Gly276Ala) | |
| 20 | g.18526419G>T | CA408360118 | SEC23B | c.881G>T (p.Gly294Val) c.827G>T (p.Gly276Val) | gnomAD v4 |
| 20 | g.18526419_18526422del | CA2652042533 | SEC23B | c.881_884del (p.Gly294AlafsTer14) c.827_830del (p.Gly276AlafsTer14) | gnomAD v4 |
| 20 | g.18526420T>A | CA509826683 | SEC23B | c.882T>A (p.Gly294=) c.828T>A (p.Gly276=) | |
| 20 | g.18526420T>C | CA509826681 | SEC23B | c.882T>C (p.Gly294=) c.828T>C (p.Gly276=) | |
| 20 | g.18526420T>G | CA509826682 | SEC23B | c.882T>G (p.Gly294=) c.828T>G (p.Gly276=) | |
| 20 | g.18526421C>A | CA408360121 | SEC23B | c.883C>A (p.Pro295Thr) c.829C>A (p.Pro277Thr) | |
| 20 | g.18526421C= | CA2353557128 | SEC23B | c.883C= (p.Pro295=) c.829C= (p.Pro277=) | |
| 20 | g.18526421C>G | CA408360122 | SEC23B | c.883C>G (p.Pro295Ala) c.829C>G (p.Pro277Ala) | |
| 20 | g.18526421C>T | CA9778161 | SEC23B | c.883C>T (p.Pro295Ser) c.829C>T (p.Pro277Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526425del | CA2553400774 | SEC23B | c.887del (p.Pro296LeufsTer13) c.833del (p.Pro278LeufsTer13) | |
| 20 | g.18526422C>A | CA9778162 | SEC23B | c.884C>A (p.Pro295His) c.830C>A (p.Pro277His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526422C= | CA2353557129 | SEC23B | c.884C= (p.Pro295=) c.830C= (p.Pro277=) | |
| 20 | g.18526422C>G | CA408360123 | SEC23B | c.884C>G (p.Pro295Arg) c.830C>G (p.Pro277Arg) | |
| 20 | g.18526422C>T | CA312396276 | SEC23B | c.884C>T (p.Pro295Leu) c.830C>T (p.Pro277Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.18526423C>A | CA509826684 | SEC23B | c.885C>A (p.Pro295=) c.831C>A (p.Pro277=) | |
| 20 | g.18526423C>G | CA509826685 | SEC23B | c.885C>G (p.Pro295=) c.831C>G (p.Pro277=) | |
| 20 | g.18526423C>T | CA509826686 | SEC23B | c.885C>T (p.Pro295=) c.831C>T (p.Pro277=) | |
| 20 | g.18526424C>A | CA408360124 | SEC23B | c.886C>A (p.Pro296Thr) c.832C>A (p.Pro278Thr) | |
| 20 | g.18526424C= | CA2353557130 | SEC23B | c.886C= (p.Pro296=) c.832C= (p.Pro278=) | |
| 20 | g.18526424C>G | CA408360125 | SEC23B | c.886C>G (p.Pro296Ala) c.832C>G (p.Pro278Ala) | gnomAD v4 |
| 20 | g.18526424C>T | CA408360126 | SEC23B | c.886C>T (p.Pro296Ser) c.832C>T (p.Pro278Ser) | gnomAD v4 |
| 20 | g.18526425C>A | CA408360127 | SEC23B | c.887C>A (p.Pro296His) c.833C>A (p.Pro278His) | |
| 20 | g.18526425C>G | CA408360128 | SEC23B | c.887C>G (p.Pro296Arg) c.833C>G (p.Pro278Arg) | |
| 20 | g.18526425C>T | CA408360129 | SEC23B | c.887C>T (p.Pro296Leu) c.833C>T (p.Pro278Leu) | |
| 20 | g.18526426_18526428dup | CA2353557131 | SEC23B | c.888_890dup (p.Thr297_Gln298insThr) c.834_836dup (p.Thr279_Gln280insThr) | dbSNP |
| 20 | g.18526426T>A | CA509826687 | SEC23B | c.888T>A (p.Pro296=) c.834T>A (p.Pro278=) | |
| 20 | g.18526426T>C | CA509826688 | SEC23B | c.888T>C (p.Pro296=) c.834T>C (p.Pro278=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.18526426T>G | CA509826689 | SEC23B | c.888T>G (p.Pro296=) c.834T>G (p.Pro278=) | |
| 20 | g.18526426T= | CA2353557132 | SEC23B | c.888T= (p.Pro296=) c.834T= (p.Pro278=) | |
| 20 | g.18526426_18526427insTG | CA2652042543 | SEC23B | c.888_889insTG (p.Thr297Ter) c.834_835insTG (p.Thr279Ter) | gnomAD v4 |
| 20 | g.18526427A>C | CA408360132 | SEC23B | c.889A>C (p.Thr297Pro) c.835A>C (p.Thr279Pro) | gnomAD v4 |
| 20 | g.18526427A>G | CA408360130 | SEC23B | c.889A>G (p.Thr297Ala) c.835A>G (p.Thr279Ala) | |
| 20 | g.18526427A>T | CA408360131 | SEC23B | c.889A>T (p.Thr297Ser) c.835A>T (p.Thr279Ser) | |
| 20 | g.18526428C>A | CA408360133 | SEC23B | c.890C>A (p.Thr297Asn) c.836C>A (p.Thr279Asn) | |
| 20 | g.18526428C= | CA2353557133 | SEC23B | c.890C= (p.Thr297=) c.836C= (p.Thr279=) | |
| 20 | g.18526428C>G | CA408360135 | SEC23B | c.890C>G (p.Thr297Ser) c.836C>G (p.Thr279Ser) | |
| 20 | g.18526428C>T | CA408360134 | SEC23B | c.890C>T (p.Thr297Ile) c.836C>T (p.Thr279Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526429C>A | CA509826690 | SEC23B | c.891C>A (p.Thr297=) c.837C>A (p.Thr279=) | |
| 20 | g.18526429C>G | CA509826691 | SEC23B | c.891C>G (p.Thr297=) c.837C>G (p.Thr279=) | gnomAD v4 |
| 20 | g.18526429C>T | CA509826692 | SEC23B | c.891C>T (p.Thr297=) c.837C>T (p.Thr279=) | ClinVar COSMIC |
| 20 | g.18526430C>A | CA408360136 | SEC23B | c.892C>A (p.Gln298Lys) c.838C>A (p.Gln280Lys) | gnomAD v4 |
| 20 | g.18526430C>G | CA408360138 | SEC23B | c.892C>G (p.Gln298Glu) c.838C>G (p.Gln280Glu) | |
| 20 | g.18526430C>T | CA408360137 | SEC23B | c.892C>T (p.Gln298Ter) c.838C>T (p.Gln280Ter) | |
| 20 | g.18526431A>C | CA408360139 | SEC23B | c.893A>C (p.Gln298Pro) c.839A>C (p.Gln280Pro) | |
| 20 | g.18526431A>G | CA408360140 | SEC23B | c.893A>G (p.Gln298Arg) c.839A>G (p.Gln280Arg) | |
| 20 | g.18526431A>T | CA408360141 | SEC23B | c.893A>T (p.Gln298Leu) c.839A>T (p.Gln280Leu) | |
| 20 | g.18526432A>C | CA408360142 | SEC23B | c.894A>C (p.Gln298His) c.840A>C (p.Gln280His) | |
| 20 | g.18526432A>G | CA509826697 | SEC23B | c.894A>G (p.Gln298=) c.840A>G (p.Gln280=) | |
| 20 | g.18526432A>T | CA408360143 | SEC23B | c.894A>T (p.Gln298His) c.840A>T (p.Gln280His) | |
| 20 | g.18526433G>A | CA408360144 | SEC23B | c.895G>A (p.Gly299Arg) c.841G>A (p.Gly281Arg) | COSMIC |
| 20 | g.18526433G>C | CA408360145 | SEC23B | c.895G>C (p.Gly299Arg) c.841G>C (p.Gly281Arg) | |
| 20 | g.18526433G>T | CA408360146 | SEC23B | c.895G>T (p.Gly299Trp) c.841G>T (p.Gly281Trp) | |
| 20 | g.18526433_18526436del | CA2652042554 | SEC23B | c.895_898del (p.Gly299LeufsTer9) c.841_844del (p.Gly281LeufsTer9) | gnomAD v4 |
| 20 | g.18526434G>A | CA408360147 | SEC23B | c.896G>A (p.Gly299Glu) c.842G>A (p.Gly281Glu) | |
| 20 | g.18526434G>C | CA408360148 | SEC23B | c.896G>C (p.Gly299Ala) c.842G>C (p.Gly281Ala) | |
| 20 | g.18526434G>T | CA408360149 | SEC23B | c.896G>T (p.Gly299Val) c.842G>T (p.Gly281Val) | |
| 20 | g.18526435G>A | CA9778163 | SEC23B | c.897G>A (p.Gly299=) c.843G>A (p.Gly281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526435G>C | CA509826699 | SEC23B | c.897G>C (p.Gly299=) c.843G>C (p.Gly281=) | ClinVar |
| 20 | g.18526435G= | CA2353557134 | SEC23B | c.897G= (p.Gly299=) c.843G= (p.Gly281=) | |
| 20 | g.18526435G>T | CA509826701 | SEC23B | c.897G>T (p.Gly299=) c.843G>T (p.Gly281=) | |
| 20 | g.18526436C>A | CA408360150 | SEC23B | c.898C>A (p.Pro300Thr) c.844C>A (p.Pro282Thr) | |
| 20 | g.18526436C>G | CA408360152 | SEC23B | c.898C>G (p.Pro300Ala) c.844C>G (p.Pro282Ala) | |
| 20 | g.18526436C>T | CA408360151 | SEC23B | c.898C>T (p.Pro300Ser) c.844C>T (p.Pro282Ser) | gnomAD v4 |
| 20 | g.18526437C>A | CA408360153 | SEC23B | c.899C>A (p.Pro300His) c.845C>A (p.Pro282His) | |
| 20 | g.18526437C= | CA2353557135 | SEC23B | c.899C= (p.Pro300=) c.845C= (p.Pro282=) | |
| 20 | g.18526437C>G | CA408360154 | SEC23B | c.899C>G (p.Pro300Arg) c.845C>G (p.Pro282Arg) | |
| 20 | g.18526437C>T | CA312396278 | SEC23B | c.899C>T (p.Pro300Leu) c.845C>T (p.Pro282Leu) | dbSNP |
| 20 | g.18526438T>A | CA509826703 | SEC23B | c.900T>A (p.Pro300=) c.846T>A (p.Pro282=) | |
| 20 | g.18526438T>C | CA509826704 | SEC23B | c.900T>C (p.Pro300=) c.846T>C (p.Pro282=) | |
| 20 | g.18526438T>G | CA509826705 | SEC23B | c.900T>G (p.Pro300=) c.846T>G (p.Pro282=) | |
| 20 | g.18526439G>A | CA408360155 | SEC23B | c.901G>A (p.Gly301Ser) c.847G>A (p.Gly283Ser) | |
| 20 | g.18526439G>C | CA408360156 | SEC23B | c.901G>C (p.Gly301Arg) c.847G>C (p.Gly283Arg) | |
| 20 | g.18526439G>T | CA408360157 | SEC23B | c.901G>T (p.Gly301Cys) c.847G>T (p.Gly283Cys) | |
| 20 | g.18526440G>A | CA408360158 | SEC23B | c.902G>A (p.Gly301Asp) c.848G>A (p.Gly283Asp) | dbSNP |
| 20 | g.18526440G>C | CA408360159 | SEC23B | c.902G>C (p.Gly301Ala) c.848G>C (p.Gly283Ala) | |
| 20 | g.18526440G= | CA2353557136 | SEC23B | c.902G= (p.Gly301=) c.848G= (p.Gly283=) | |
| 20 | g.18526440G>T | CA408360160 | SEC23B | c.902G>T (p.Gly301Val) c.848G>T (p.Gly283Val) | dbSNP |
| 20 | g.18526440_18526441insA | CA2652042559 | SEC23B | c.902_903insA (p.Met302HisfsTer6) c.848_849insA (p.Met284HisfsTer6) | gnomAD v4 |
| 20 | g.18526441C>A | CA509826710 | SEC23B | c.903C>A (p.Gly301=) c.849C>A (p.Gly283=) | |
| 20 | g.18526441C>G | CA509826709 | SEC23B | c.903C>G (p.Gly301=) c.849C>G (p.Gly283=) | |
| 20 | g.18526441C>T | CA509826708 | SEC23B | c.903C>T (p.Gly301=) c.849C>T (p.Gly283=) | |
| 20 | g.18526442A= | CA2353557137 | SEC23B | c.904A= (p.Met302=) c.850A= (p.Met284=) | |
| 20 | g.18526442A>C | CA408360163 | SEC23B | c.904A>C (p.Met302Leu) c.850A>C (p.Met284Leu) | |
| 20 | g.18526442A>G | CA408360162 | SEC23B | c.904A>G (p.Met302Val) c.850A>G (p.Met284Val) | dbSNP gnomAD v4 |
| 20 | g.18526442A>T | CA408360161 | SEC23B | c.904A>T (p.Met302Leu) c.850A>T (p.Met284Leu) | |
| 20 | g.18526443T>A | CA408360164 | SEC23B | c.905T>A (p.Met302Lys) c.851T>A (p.Met284Lys) | |
| 20 | g.18526443T>C | CA408360165 | SEC23B | c.905T>C (p.Met302Thr) c.851T>C (p.Met284Thr) | |
| 20 | g.18526443T>G | CA408360166 | SEC23B | c.905T>G (p.Met302Arg) c.851T>G (p.Met284Arg) | |
| 20 | g.18526444G>A | CA408360167 | SEC23B | c.906G>A (p.Met302Ile) c.852G>A (p.Met284Ile) | |
| 20 | g.18526444G>C | CA408360168 | SEC23B | c.906G>C (p.Met302Ile) c.852G>C (p.Met284Ile) | dbSNP |
| 20 | g.18526444G= | CA2353557138 | SEC23B | c.906G= (p.Met302=) c.852G= (p.Met284=) | |
| 20 | g.18526444G>T | CA408360169 | SEC23B | c.906G>T (p.Met302Ile) c.852G>T (p.Met284Ile) | |
| 20 | g.18526445G>A | CA408360170 | SEC23B | c.907G>A (p.Val303Met) c.853G>A (p.Val285Met) | |
| 20 | g.18526445G>C | CA408360171 | SEC23B | c.907G>C (p.Val303Leu) c.853G>C (p.Val285Leu) | |
| 20 | g.18526445G>T | CA408360172 | SEC23B | c.907G>T (p.Val303Leu) c.853G>T (p.Val285Leu) | |
| 20 | g.18526446T>A | CA408360173 | SEC23B | c.908T>A (p.Val303Glu) c.854T>A (p.Val285Glu) | |
| 20 | g.18526446T>C | CA408360174 | SEC23B | c.908T>C (p.Val303Ala) c.854T>C (p.Val285Ala) | |
| 20 | g.18526446T>G | CA408360175 | SEC23B | c.908T>G (p.Val303Gly) c.854T>G (p.Val285Gly) | |
| 20 | g.18526447G>A | CA509826717 | SEC23B | c.909G>A (p.Val303=) c.855G>A (p.Val285=) | |
| 20 | g.18526447G>C | CA509826719 | SEC23B | c.909G>C (p.Val303=) c.855G>C (p.Val285=) | |
| 20 | g.18526447G>T | CA509826718 | SEC23B | c.909G>T (p.Val303=) c.855G>T (p.Val285=) | |
| 20 | g.18526448G>A | CA408360178 | SEC23B | c.910G>A (p.Val304Ile) c.856G>A (p.Val286Ile) | |
| 20 | g.18526448G>C | CA408360176 | SEC23B | c.910G>C (p.Val304Leu) c.856G>C (p.Val286Leu) | |
| 20 | g.18526448G>T | CA408360177 | SEC23B | c.910G>T (p.Val304Phe) c.856G>T (p.Val286Phe) | |
| 20 | g.18526449T>A | CA408360179 | SEC23B | c.911T>A (p.Val304Asp) c.857T>A (p.Val286Asp) | |
| 20 | g.18526449T>C | CA408360180 | SEC23B | c.911T>C (p.Val304Ala) c.857T>C (p.Val286Ala) | |
| 20 | g.18526449T>G | CA408360181 | SEC23B | c.911T>G (p.Val304Gly) c.857T>G (p.Val286Gly) | |
| 20 | g.18526450T>A | CA509826723 | SEC23B | c.912T>A (p.Val304=) c.858T>A (p.Val286=) | ClinVar dbSNP |
| 20 | g.18526450T>C | CA509826724 | SEC23B | c.912T>C (p.Val304=) c.858T>C (p.Val286=) | |
| 20 | g.18526450T>G | CA509826725 | SEC23B | c.912T>G (p.Val304=) c.858T>G (p.Val286=) | |
| 20 | g.18526450T= | CA2353557139 | SEC23B | c.912T= (p.Val304=) c.858T= (p.Val286=) | |
| 20 | g.18526451G>A | CA9778164 | SEC23B | c.913G>A (p.Gly305Arg) c.859G>A (p.Gly287Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526451G>C | CA408360182 | SEC23B | c.913G>C (p.Gly305Arg) c.859G>C (p.Gly287Arg) | |
| 20 | g.18526451G= | CA2353557140 | SEC23B | c.913G= (p.Gly305=) c.859G= (p.Gly287=) | |
| 20 | g.18526451G>T | CA408360183 | SEC23B | c.913G>T (p.Gly305Ter) c.859G>T (p.Gly287Ter) | |
| 20 | g.18526452G>A | CA408360184 | SEC23B | c.914G>A (p.Gly305Glu) c.860G>A (p.Gly287Glu) | |
| 20 | g.18526452G>C | CA408360185 | SEC23B | c.914G>C (p.Gly305Ala) c.860G>C (p.Gly287Ala) | COSMIC |
| 20 | g.18526452G>T | CA408360186 | SEC23B | c.914G>T (p.Gly305Val) c.860G>T (p.Gly287Val) | |
| 20 | g.18526453A>C | CA509826729 | SEC23B | c.915A>C (p.Gly305=) c.861A>C (p.Gly287=) | |
| 20 | g.18526453A>G | CA509826730 | SEC23B | c.915A>G (p.Gly305=) c.861A>G (p.Gly287=) | |
| 20 | g.18526453A>T | CA509826731 | SEC23B | c.915A>T (p.Gly305=) c.861A>T (p.Gly287=) | |
| 20 | g.18526454G>A | CA9778165 | SEC23B | c.916G>A (p.Asp306Asn) c.862G>A (p.Asp288Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526454G>C | CA408360187 | SEC23B | c.916G>C (p.Asp306His) c.862G>C (p.Asp288His) | |
| 20 | g.18526454G= | CA2353557141 | SEC23B | c.916G= (p.Asp306=) c.862G= (p.Asp288=) | |
| 20 | g.18526454G>T | CA408360188 | SEC23B | c.916G>T (p.Asp306Tyr) c.862G>T (p.Asp288Tyr) | |
| 20 | g.18526455A>C | CA408360191 | SEC23B | c.917A>C (p.Asp306Ala) c.863A>C (p.Asp288Ala) | |
| 20 | g.18526455A>G | CA408360190 | SEC23B | c.917A>G (p.Asp306Gly) c.863A>G (p.Asp288Gly) | gnomAD v4 |
| 20 | g.18526455A>T | CA408360189 | SEC23B | c.917A>T (p.Asp306Val) c.863A>T (p.Asp288Val) | |
| 20 | g.18526456T>A | CA408360192 | SEC23B | c.918T>A (p.Asp306Glu) c.864T>A (p.Asp288Glu) | |
| 20 | g.18526456T>C | CA509826735 | SEC23B | c.918T>C (p.Asp306=) c.864T>C (p.Asp288=) | |
| 20 | g.18526456T>G | CA312396284 | SEC23B | c.918T>G (p.Asp306Glu) c.864T>G (p.Asp288Glu) | dbSNP |
| 20 | g.18526456T= | CA2353557142 | SEC23B | c.918T= (p.Asp306=) c.864T= (p.Asp288=) | |
| 20 | g.18526457G>A | CA408360195 | SEC23B | c.919G>A (p.Glu307Lys) c.865G>A (p.Glu289Lys) | gnomAD v4 |
| 20 | g.18526457G>C | CA408360193 | SEC23B | c.919G>C (p.Glu307Gln) c.865G>C (p.Glu289Gln) | |
| 20 | g.18526457G>T | CA408360194 | SEC23B | c.919G>T (p.Glu307Ter) c.865G>T (p.Glu289Ter) | |
| 20 | g.18526458A= | CA2353557143 | SEC23B | c.920A= (p.Glu307=) c.866A= (p.Glu289=) | |
| 20 | g.18526458A>C | CA408360196 | SEC23B | c.920A>C (p.Glu307Ala) c.866A>C (p.Glu289Ala) | |
| 20 | g.18526458A>G | CA408360197 | SEC23B | c.920A>G (p.Glu307Gly) c.866A>G (p.Glu289Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526458A>T | CA408360198 | SEC23B | c.920A>T (p.Glu307Val) c.866A>T (p.Glu289Val) | |
| 20 | g.18526459A= | CA2353557144 | SEC23B | c.921A= (p.Glu307=) c.867A= (p.Glu289=) | |
| 20 | g.18526459A>C | CA408360199 | SEC23B | c.921A>C (p.Glu307Asp) c.867A>C (p.Glu289Asp) | |
| 20 | g.18526459A>G | CA9778166 | SEC23B | c.921A>G (p.Glu307=) c.867A>G (p.Glu289=) | dbSNP ExAC gnomAD v2 |
| 20 | g.18526459A>T | CA408360200 | SEC23B | c.921A>T (p.Glu307Asp) c.867A>T (p.Glu289Asp) | |
| 20 | g.18526460T>A | CA408360201 | SEC23B | c.922T>A (p.Leu308Ile) c.868T>A (p.Leu290Ile) | |
| 20 | g.18526460T>C | CA509826739 | SEC23B | c.922T>C (p.Leu308=) c.868T>C (p.Leu290=) | |
| 20 | g.18526460T>G | CA408360202 | SEC23B | c.922T>G (p.Leu308Val) c.868T>G (p.Leu290Val) | |
| 20 | g.18526461T>A | CA408360203 | SEC23B | c.923T>A (p.Leu308Ter) c.869T>A (p.Leu290Ter) | |
| 20 | g.18526461T>C | CA408360204 | SEC23B | c.923T>C (p.Leu308Ser) c.869T>C (p.Leu290Ser) | |
| 20 | g.18526461T>G | CA408360205 | SEC23B | c.923T>G (p.Leu308Ter) c.869T>G (p.Leu290Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.18526461T= | CA2353557145 | SEC23B | c.923T= (p.Leu308=) c.869T= (p.Leu290=) | |
| 20 | g.18526462A>C | CA408360206 | SEC23B | c.924A>C (p.Leu308Phe) c.870A>C (p.Leu290Phe) | |
| 20 | g.18526462A>G | CA509826741 | SEC23B | c.924A>G (p.Leu308=) c.870A>G (p.Leu290=) | |
| 20 | g.18526462A>T | CA408360207 | SEC23B | c.924A>T (p.Leu308Phe) c.870A>T (p.Leu290Phe) | |
| 20 | g.18526463A>C | CA408360208 | SEC23B | c.925A>C (p.Lys309Gln) c.871A>C (p.Lys291Gln) | |
| 20 | g.18526463A>G | CA408360209 | SEC23B | c.925A>G (p.Lys309Glu) c.871A>G (p.Lys291Glu) | |
| 20 | g.18526463A>T | CA408360210 | SEC23B | c.925A>T (p.Lys309Ter) c.871A>T (p.Lys291Ter) | gnomAD v4 |
| 20 | g.18526464A>C | CA408360211 | SEC23B | c.926A>C (p.Lys309Thr) c.872A>C (p.Lys291Thr) | |
| 20 | g.18526464A>G | CA408360212 | SEC23B | c.926A>G (p.Lys309Arg) c.872A>G (p.Lys291Arg) | |
| 20 | g.18526464A>T | CA408360213 | SEC23B | c.926A>T (p.Lys309Met) c.872A>T (p.Lys291Met) | |
| 20 | g.18526465_18526466dup | CA2652042579 | SEC23B | c.927_928dup (p.Ile310ArgfsTer18) c.873_874dup (p.Ile292ArgfsTer18) | gnomAD v4 |
| 20 | g.18526465G>A | CA509826744 | SEC23B | c.927G>A (p.Lys309=) c.873G>A (p.Lys291=) | |
| 20 | g.18526465G>C | CA408360214 | SEC23B | c.927G>C (p.Lys309Asn) c.873G>C (p.Lys291Asn) | |
| 20 | g.18526465G>T | CA408360215 | SEC23B | c.927G>T (p.Lys309Asn) c.873G>T (p.Lys291Asn) | gnomAD v4 |
| 20 | g.18526466A>C | CA408360216 | SEC23B | c.928A>C (p.Ile310Leu) c.874A>C (p.Ile292Leu) | gnomAD v4 |
| 20 | g.18526466A>G | CA408360217 | SEC23B | c.928A>G (p.Ile310Val) c.874A>G (p.Ile292Val) | |
| 20 | g.18526466A>T | CA408360218 | SEC23B | c.928A>T (p.Ile310Phe) c.874A>T (p.Ile292Phe) | |
| 20 | g.18526467T>A | CA408360220 | SEC23B | c.929T>A (p.Ile310Asn) c.875T>A (p.Ile292Asn) | |
| 20 | g.18526467T>C | CA408360221 | SEC23B | c.929T>C (p.Ile310Thr) c.875T>C (p.Ile292Thr) | |
| 20 | g.18526467T>G | CA408360219 | SEC23B | c.929T>G (p.Ile310Ser) c.875T>G (p.Ile292Ser) | |
| 20 | g.18526468T>A | CA509826745 | SEC23B | c.930T>A (p.Ile310=) c.876T>A (p.Ile292=) | |
| 20 | g.18526468T>C | CA509826746 | SEC23B | c.930T>C (p.Ile310=) c.876T>C (p.Ile292=) | |
| 20 | g.18526468T>G | CA408360222 | SEC23B | c.930T>G (p.Ile310Met) c.876T>G (p.Ile292Met) | |
| 20 | g.18526469C>A | CA408360223 | SEC23B | c.931C>A (p.Pro311Thr) c.877C>A (p.Pro293Thr) | |
| 20 | g.18526469C>G | CA408360224 | SEC23B | c.931C>G (p.Pro311Ala) c.877C>G (p.Pro293Ala) | |
| 20 | g.18526469C>T | CA408360225 | SEC23B | c.931C>T (p.Pro311Ser) c.877C>T (p.Pro293Ser) | |
| 20 | g.18526470C>A | CA408360226 | SEC23B | c.932C>A (p.Pro311His) c.878C>A (p.Pro293His) | |
| 20 | g.18526470C= | CA2353557146 | SEC23B | c.932C= (p.Pro311=) c.878C= (p.Pro293=) | |
| 20 | g.18526470C>G | CA408360227 | SEC23B | c.932C>G (p.Pro311Arg) c.878C>G (p.Pro293Arg) | |
| 20 | g.18526470C>T | CA312396288 | SEC23B | c.932C>T (p.Pro311Leu) c.878C>T (p.Pro293Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.18526471T>A | CA509826750 | SEC23B | c.933T>A (p.Pro311=) c.879T>A (p.Pro293=) | |
| 20 | g.18526471T>C | CA509826751 | SEC23B | c.933T>C (p.Pro311=) c.879T>C (p.Pro293=) | |
| 20 | g.18526471T>G | CA509826752 | SEC23B | c.933T>G (p.Pro311=) c.879T>G (p.Pro293=) | |
| 20 | g.18526472del | CA2652042588 | SEC23B | c.934del (p.Ile312PhefsTer15) c.880del (p.Ile294PhefsTer15) | gnomAD v4 |
| 20 | g.18526472A= | CA2353557147 | SEC23B | c.934A= (p.Ile312=) c.880A= (p.Ile294=) | |
| 20 | g.18526472A>C | CA408360228 | SEC23B | c.934A>C (p.Ile312Leu) c.880A>C (p.Ile294Leu) | |
| 20 | g.18526472A>G | CA9778167 | SEC23B | c.934A>G (p.Ile312Val) c.880A>G (p.Ile294Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.18526472A>T | CA408360229 | SEC23B | c.934A>T (p.Ile312Phe) c.880A>T (p.Ile294Phe) | |
| 20 | g.18526473T>A | CA408360230 | SEC23B | c.935T>A (p.Ile312Asn) c.881T>A (p.Ile294Asn) | |
| 20 | g.18526473T>C | CA408360231 | SEC23B | c.935T>C (p.Ile312Thr) c.881T>C (p.Ile294Thr) | |
| 20 | g.18526473T>G | CA408360232 | SEC23B | c.935T>G (p.Ile312Ser) c.881T>G (p.Ile294Ser) | |
| 20 | g.18526474T>A | CA509826756 | SEC23B | c.936T>A (p.Ile312=) c.882T>A (p.Ile294=) | |
| 20 | g.18526474T>C | CA509826755 | SEC23B | c.936T>C (p.Ile312=) c.882T>C (p.Ile294=) | |
| 20 | g.18526474T>G | CA408360233 | SEC23B | c.936T>G (p.Ile312Met) c.882T>G (p.Ile294Met) | |
| 20 | g.18526475C>A | CA408360234 | SEC23B | c.937C>A (p.Arg313Ser) c.883C>A (p.Arg295Ser) | |
| 20 | g.18526475C= | CA2353557148 | SEC23B | c.937C= (p.Arg313=) c.883C= (p.Arg295=) | |
| 20 | g.18526475C>G | CA408360235 | SEC23B | c.937C>G (p.Arg313Gly) c.883C>G (p.Arg295Gly) | |
| 20 | g.18526475C>T | CA312396291 | SEC23B | c.937C>T (p.Arg313Cys) c.883C>T (p.Arg295Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.18526476G>A | CA408360236 | SEC23B | c.938G>A (p.Arg313His) c.884G>A (p.Arg295His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.18526476G>C | CA408360237 | SEC23B | c.938G>C (p.Arg313Pro) c.884G>C (p.Arg295Pro) | |
| 20 | g.18526476G= | CA2353557149 | SEC23B | c.938G= (p.Arg313=) c.884G= (p.Arg295=) | |
| 20 | g.18526476G>T | CA9778168 | SEC23B | c.938G>T (p.Arg313Leu) c.884G>T (p.Arg295Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526477T>A | CA509826759 | SEC23B | c.939T>A (p.Arg313=) c.885T>A (p.Arg295=) | |
| 20 | g.18526477T>C | CA509826760 | SEC23B | c.939T>C (p.Arg313=) c.885T>C (p.Arg295=) | |
| 20 | g.18526477T>G | CA509826761 | SEC23B | c.939T>G (p.Arg313=) c.885T>G (p.Arg295=) | |
| 20 | g.18526478T>A | CA408360238 | SEC23B | c.940T>A (p.Ser314Thr) c.886T>A (p.Ser296Thr) | |
| 20 | g.18526478T>C | CA408360239 | SEC23B | c.940T>C (p.Ser314Pro) c.886T>C (p.Ser296Pro) | |
| 20 | g.18526478T>G | CA408360240 | SEC23B | c.940T>G (p.Ser314Ala) c.886T>G (p.Ser296Ala) | |
| 20 | g.18526479C>A | CA408360241 | SEC23B | c.941C>A (p.Ser314Tyr) c.887C>A (p.Ser296Tyr) | |
| 20 | g.18526479C>G | CA408360242 | SEC23B | c.941C>G (p.Ser314Cys) c.887C>G (p.Ser296Cys) | |
| 20 | g.18526479C>T | CA408360243 | SEC23B | c.941C>T (p.Ser314Phe) c.887C>T (p.Ser296Phe) | |
| 20 | g.18526480T>A | CA509826765 | SEC23B | c.942T>A (p.Ser314=) c.888T>A (p.Ser296=) | |
| 20 | g.18526480T>C | CA509826766 | SEC23B | c.942T>C (p.Ser314=) c.888T>C (p.Ser296=) | |
| 20 | g.18526480T>G | CA509826768 | SEC23B | c.942T>G (p.Ser314=) c.888T>G (p.Ser296=) | dbSNP |
| 20 | g.18526480T= | CA2353557150 | SEC23B | c.942T= (p.Ser314=) c.888T= (p.Ser296=) | |
| 20 | g.18526481T>A | CA408360244 | SEC23B | c.943T>A (p.Trp315Arg) c.889T>A (p.Trp297Arg) | gnomAD v4 |
| 20 | g.18526481T>C | CA408360245 | SEC23B | c.943T>C (p.Trp315Arg) c.889T>C (p.Trp297Arg) | |
| 20 | g.18526481T>G | CA408360246 | SEC23B | c.943T>G (p.Trp315Gly) c.889T>G (p.Trp297Gly) | |
| 20 | g.18526482G>A | CA408360247 | SEC23B | c.944G>A (p.Trp315Ter) c.890G>A (p.Trp297Ter) | gnomAD v4 |
| 20 | g.18526482G>C | CA408360248 | SEC23B | c.944G>C (p.Trp315Ser) c.890G>C (p.Trp297Ser) | |
| 20 | g.18526482G= | CA2353557151 | SEC23B | c.944G= (p.Trp315=) c.890G= (p.Trp297=) | |
| 20 | g.18526482G>T | CA9778169 | SEC23B | c.944G>T (p.Trp315Leu) c.890G>T (p.Trp297Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526483G>A | CA408360249 | SEC23B | c.945G>A (p.Trp315Ter) c.891G>A (p.Trp297Ter) | |
| 20 | g.18526483G>C | CA408360251 | SEC23B | c.945G>C (p.Trp315Cys) c.891G>C (p.Trp297Cys) | |
| 20 | g.18526483G>T | CA408360250 | SEC23B | c.945G>T (p.Trp315Cys) c.891G>T (p.Trp297Cys) | gnomAD v4 |
| 20 | g.18526484C>A | CA408360252 | SEC23B | c.946C>A (p.His316Asn) c.892C>A (p.His298Asn) | |
| 20 | g.18526484C>G | CA408360254 | SEC23B | c.946C>G (p.His316Asp) c.892C>G (p.His298Asp) | |
| 20 | g.18526484C>T | CA408360253 | SEC23B | c.946C>T (p.His316Tyr) c.892C>T (p.His298Tyr) | |
| 20 | g.18526485A>C | CA408360255 | SEC23B | c.947A>C (p.His316Pro) c.893A>C (p.His298Pro) | |
| 20 | g.18526485A>G | CA408360257 | SEC23B | c.947A>G (p.His316Arg) c.893A>G (p.His298Arg) | gnomAD v4 |
| 20 | g.18526485A>T | CA408360256 | SEC23B | c.947A>T (p.His316Leu) c.893A>T (p.His298Leu) | gnomAD v4 |
| 20 | g.18526487_18526489del | CA2652042598 | SEC23B | c.949_951del (p.Asp317del) c.895_897del (p.Asp299del) | gnomAD v4 |
| 20 | g.18526486T>A | CA408360258 | SEC23B | c.948T>A (p.His316Gln) c.894T>A (p.His298Gln) | gnomAD v4 |
| 20 | g.18526486T>C | CA509826773 | SEC23B | c.948T>C (p.His316=) c.894T>C (p.His298=) | |
| 20 | g.18526486T>G | CA408360259 | SEC23B | c.948T>G (p.His316Gln) c.894T>G (p.His298Gln) | gnomAD v4 |
| 20 | g.18526487G>A | CA408360260 | SEC23B | c.949G>A (p.Asp317Asn) c.895G>A (p.Asp299Asn) | |
| 20 | g.18526487G>C | CA408360261 | SEC23B | c.949G>C (p.Asp317His) c.895G>C (p.Asp299His) | |
| 20 | g.18526487G>T | CA408360262 | SEC23B | c.949G>T (p.Asp317Tyr) c.895G>T (p.Asp299Tyr) | |
| 20 | g.18526488A>C | CA408360263 | SEC23B | c.950A>C (p.Asp317Ala) c.896A>C (p.Asp299Ala) | |
| 20 | g.18526488A>G | CA408360264 | SEC23B | c.950A>G (p.Asp317Gly) c.896A>G (p.Asp299Gly) | |
| 20 | g.18526488A>T | CA408360265 | SEC23B | c.950A>T (p.Asp317Val) c.896A>T (p.Asp299Val) | |
| 20 | g.18526489T>A | CA408360266 | SEC23B | c.951T>A (p.Asp317Glu) c.897T>A (p.Asp299Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.18526489T>C | CA509826779 | SEC23B | c.951T>C (p.Asp317=) c.897T>C (p.Asp299=) | |
| 20 | g.18526489T>G | CA408360267 | SEC23B | c.951T>G (p.Asp317Glu) c.897T>G (p.Asp299Glu) | |
| 20 | g.18526489T= | CA2353557152 | SEC23B | c.951T= (p.Asp317=) c.897T= (p.Asp299=) | |
| 20 | g.18526490A>C | CA408360270 | SEC23B | c.952A>C (p.Ile318Leu) c.898A>C (p.Ile300Leu) | |
| 20 | g.18526490A>G | CA408360269 | SEC23B | c.952A>G (p.Ile318Val) c.898A>G (p.Ile300Val) | gnomAD v4 |
| 20 | g.18526490A>T | CA408360268 | SEC23B | c.952A>T (p.Ile318Phe) c.898A>T (p.Ile300Phe) | gnomAD v4 |
| 20 | g.18526491T>A | CA408360271 | SEC23B | c.953T>A (p.Ile318Asn) c.899T>A (p.Ile300Asn) | |
| 20 | g.18526491T>C | CA312396298 | SEC23B | c.953T>C (p.Ile318Thr) c.899T>C (p.Ile300Thr) | ClinVar dbSNP gnomAD v4 |
| 20 | g.18526491T>G | CA408360272 | SEC23B | c.953T>G (p.Ile318Ser) c.899T>G (p.Ile300Ser) | |
| 20 | g.18526491T= | CA2353557153 | SEC23B | c.953T= (p.Ile318=) c.899T= (p.Ile300=) | |
| 20 | g.18526492T>A | CA509826782 | SEC23B | c.954T>A (p.Ile318=) c.900T>A (p.Ile300=) | |
| 20 | g.18526492T>C | CA9778170 | SEC23B | c.954T>C (p.Ile318=) c.900T>C (p.Ile300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526492T>G | CA408360273 | SEC23B | c.954T>G (p.Ile318Met) c.900T>G (p.Ile300Met) | |
| 20 | g.18526492T= | CA2353557154 | SEC23B | c.954T= (p.Ile318=) c.900T= (p.Ile300=) | |
| 20 | g.18526493G>A | CA312396303 | SEC23B | c.955G>A (p.Glu319Lys) c.901G>A (p.Glu301Lys) | dbSNP gnomAD v4 |
| 20 | g.18526493G>C | CA408360274 | SEC23B | c.955G>C (p.Glu319Gln) c.901G>C (p.Glu301Gln) | |
| 20 | g.18526493G= | CA2353557155 | SEC23B | c.955G= (p.Glu319=) c.901G= (p.Glu301=) | |
| 20 | g.18526493G>T | CA408360275 | SEC23B | c.955G>T (p.Glu319Ter) c.901G>T (p.Glu301Ter) | |
| 20 | g.18526494A>C | CA408360276 | SEC23B | c.956A>C (p.Glu319Ala) c.902A>C (p.Glu301Ala) | |
| 20 | g.18526494A>G | CA408360277 | SEC23B | c.956A>G (p.Glu319Gly) c.902A>G (p.Glu301Gly) | |
| 20 | g.18526494A>T | CA408360278 | SEC23B | c.956A>T (p.Glu319Val) c.902A>T (p.Glu301Val) | |
| 20 | g.18526495G>A | CA509826785 | SEC23B | c.957G>A (p.Glu319=) c.903G>A (p.Glu301=) | |
| 20 | g.18526495G>C | CA408360279 | SEC23B | c.957G>C (p.Glu319Asp) c.903G>C (p.Glu301Asp) | |
| 20 | g.18526495G= | CA2353557156 | SEC23B | c.957G= (p.Glu319=) c.903G= (p.Glu301=) | |
| 20 | g.18526495G>T | CA9778171 | SEC23B | c.957G>T (p.Glu319Asp) c.903G>T (p.Glu301Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.18526496A>C | CA408360280 | SEC23B | c.958A>C (p.Lys320Gln) c.904A>C (p.Lys302Gln) | |
| 20 | g.18526496A>G | CA408360281 | SEC23B | c.958A>G (p.Lys320Glu) c.904A>G (p.Lys302Glu) | |
| 20 | g.18526496A>T | CA408360282 | SEC23B | c.958A>T (p.Lys320Ter) c.904A>T (p.Lys302Ter) | |
| 20 | g.18526497A>C | CA408360283 | SEC23B | c.959A>C (p.Lys320Thr) c.905A>C (p.Lys302Thr) | |
| 20 | g.18526497A>G | CA408360284 | SEC23B | c.959A>G (p.Lys320Arg) c.905A>G (p.Lys302Arg) | |
| 20 | g.18526497A>T | CA408360285 | SEC23B | c.959A>T (p.Lys320Ile) c.905A>T (p.Lys302Ile) | |
| 20 | g.18526498A>C | CA408360286 | SEC23B | c.960A>C (p.Lys320Asn) c.906A>C (p.Lys302Asn) | |
| 20 | g.18526498A>G | CA509826790 | SEC23B | c.960A>G (p.Lys320=) c.906A>G (p.Lys302=) | ClinVar gnomAD v4 |
| 20 | g.18526498A>T | CA408360287 | SEC23B | c.960A>T (p.Lys320Asn) c.906A>T (p.Lys302Asn) | |
| 20 | g.18526499G>A | CA408360288 | SEC23B | c.961G>A (p.Asp321Asn) c.907G>A (p.Asp303Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.18526499G>C | CA408360289 | SEC23B | c.961G>C (p.Asp321His) c.907G>C (p.Asp303His) | |
| 20 | g.18526499G= | CA2353557157 | SEC23B | c.961G= (p.Asp321=) c.907G= (p.Asp303=) | |
| 20 | g.18526499G>T | CA408360290 | SEC23B | c.961G>T (p.Asp321Tyr) c.907G>T (p.Asp303Tyr) | |
| 20 | g.18526500A= | CA2353557158 | SEC23B | c.962A= (p.Asp321=) c.908A= (p.Asp303=) | |
| 20 | g.18526500A>C | CA408360291 | SEC23B | c.962A>C (p.Asp321Ala) c.908A>C (p.Asp303Ala) | |
| 20 | g.18526500A>G | CA408360292 | SEC23B | c.962A>G (p.Asp321Gly) c.908A>G (p.Asp303Gly) | |
| 20 | g.18526500A>T | CA408360293 | SEC23B | c.962A>T (p.Asp321Val) c.908A>T (p.Asp303Val) | dbSNP gnomAD v2 |
| 20 | g.18526501T>A | CA408360294 | SEC23B | c.963T>A (p.Asp321Glu) c.909T>A (p.Asp303Glu) | |
| 20 | g.18526501T>C | CA509826795 | SEC23B | c.963T>C (p.Asp321=) c.909T>C (p.Asp303=) | dbSNP |
| 20 | g.18526501T>G | CA408360295 | SEC23B | c.963T>G (p.Asp321Glu) c.909T>G (p.Asp303Glu) | |
| 20 | g.18526501T= | CA2353557159 | SEC23B | c.963T= (p.Asp321=) c.909T= (p.Asp303=) | |
| 20 | g.18526502A>C | CA408360296 | SEC23B | c.964A>C (p.Asn322His) c.910A>C (p.Asn304His) | |
| 20 | g.18526502A>G | CA408360297 | SEC23B | c.964A>G (p.Asn322Asp) c.910A>G (p.Asn304Asp) | gnomAD v4 |
| 20 | g.18526502A>T | CA408360298 | SEC23B | c.964A>T (p.Asn322Tyr) c.910A>T (p.Asn304Tyr) | |
| 20 | g.18526503A= | CA2353557160 | SEC23B | c.965A= (p.Asn322=) c.911A= (p.Asn304=) | |
| 20 | g.18526503A>C | CA408360299 | SEC23B | c.965A>C (p.Asn322Thr) c.911A>C (p.Asn304Thr) | |
| 20 | g.18526503A>G | CA408360300 | SEC23B | c.965A>G (p.Asn322Ser) c.911A>G (p.Asn304Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.18526503A>T | CA408360301 | SEC23B | c.965A>T (p.Asn322Ile) c.911A>T (p.Asn304Ile) | |
| 20 | g.18526504T>A | CA408360302 | SEC23B | c.966T>A (p.Asn322Lys) c.912T>A (p.Asn304Lys) | |
| 20 | g.18526504T>C | CA509826804 | SEC23B | c.966T>C (p.Asn322=) c.912T>C (p.Asn304=) | |
| 20 | g.18526504T>G | CA408360303 | SEC23B | c.966T>G (p.Asn322Lys) c.912T>G (p.Asn304Lys) | |
| 20 | g.18526505G>A | CA408360304 | SEC23B | c.967G>A (p.Ala323Thr) c.913G>A (p.Ala305Thr) | gnomAD v4 |
| 20 | g.18526505G>C | CA408360305 | SEC23B | c.967G>C (p.Ala323Pro) c.913G>C (p.Ala305Pro) | |
| 20 | g.18526505G= | CA2353557161 | SEC23B | c.967G= (p.Ala323=) c.913G= (p.Ala305=) | |
| 20 | g.18526505G>T | CA9778172 | SEC23B | c.967G>T (p.Ala323Ser) c.913G>T (p.Ala305Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526506C>A | CA408360307 | SEC23B | c.968C>A (p.Ala323Glu) c.914C>A (p.Ala305Glu) | |
| 20 | g.18526506C>G | CA408360308 | SEC23B | c.968C>G (p.Ala323Gly) c.914C>G (p.Ala305Gly) | |
| 20 | g.18526506C>T | CA408360306 | SEC23B | c.968C>T (p.Ala323Val) c.914C>T (p.Ala305Val) | gnomAD v4 |
| 20 | g.18526507_18526508dup | CA312396309 | SEC23B | c.969_970dup (p.Arg324HisfsTer4) c.915_916dup (p.Arg306HisfsTer4) | dbSNP |
| 20 | g.18526507A>C | CA509826814 | SEC23B | c.969A>C (p.Ala323=) c.915A>C (p.Ala305=) | |
| 20 | g.18526507A>G | CA509826816 | SEC23B | c.969A>G (p.Ala323=) c.915A>G (p.Ala305=) | |
| 20 | g.18526507A>T | CA509826818 | SEC23B | c.969A>T (p.Ala323=) c.915A>T (p.Ala305=) | |
| 20 | g.18526508C>A | CA509826824 | SEC23B | c.970C>A (p.Arg324=) c.916C>A (p.Arg306=) | |
| 20 | g.18526508C= | CA2353557162 | SEC23B | c.970C= (p.Arg324=) c.916C= (p.Arg306=) | |
| 20 | g.18526508C>G | CA408360309 | SEC23B | c.970C>G (p.Arg324Gly) c.916C>G (p.Arg306Gly) | |
| 20 | g.18526508C>T | CA114853 | SEC23B | c.970C>T (p.Arg324Ter) c.916C>T (p.Arg306Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526509G>A | CA408360310 | SEC23B | c.971G>A (p.Arg324Gln) c.917G>A (p.Arg306Gln) | gnomAD v4 |
| 20 | g.18526509G>C | CA9778173 | SEC23B | c.971G>C (p.Arg324Pro) c.917G>C (p.Arg306Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526509G= | CA2353557163 | SEC23B | c.971G= (p.Arg324=) c.917G= (p.Arg306=) | |
| 20 | g.18526509G>T | CA408360311 | SEC23B | c.971G>T (p.Arg324Leu) c.917G>T (p.Arg306Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.18526510A>C | CA509826837 | SEC23B | c.972A>C (p.Arg324=) c.918A>C (p.Arg306=) | |
| 20 | g.18526510A>G | CA509826840 | SEC23B | c.972A>G (p.Arg324=) c.918A>G (p.Arg306=) | |
| 20 | g.18526510A>T | CA509826842 | SEC23B | c.972A>T (p.Arg324=) c.918A>T (p.Arg306=) | |
| 20 | g.18526511T>A | CA408360312 | SEC23B | c.973T>A (p.Phe325Ile) c.919T>A (p.Phe307Ile) | |
| 20 | g.18526511T>C | CA9778174 | SEC23B | c.973T>C (p.Phe325Leu) c.919T>C (p.Phe307Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526511T>G | CA408360313 | SEC23B | c.973T>G (p.Phe325Val) c.919T>G (p.Phe307Val) | |
| 20 | g.18526511T= | CA2353557164 | SEC23B | c.973T= (p.Phe325=) c.919T= (p.Phe307=) | |
| 20 | g.18526512T>A | CA408360314 | SEC23B | c.974T>A (p.Phe325Tyr) c.920T>A (p.Phe307Tyr) | |
| 20 | g.18526512T>C | CA408360315 | SEC23B | c.974T>C (p.Phe325Ser) c.920T>C (p.Phe307Ser) | |
| 20 | g.18526512T>G | CA408360316 | SEC23B | c.974T>G (p.Phe325Cys) c.920T>G (p.Phe307Cys) |