| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.18526408G>A | CA509826671 | SEC23B | c.870G>A (p.Leu290=) c.816G>A (p.Leu272=) | |
| 20 | g.18526408G>C | CA509826672 | SEC23B | c.870G>C (p.Leu290=) c.816G>C (p.Leu272=) | dbSNP |
| 20 | g.18526408G>T | CA509826673 | SEC23B | c.870G>T (p.Leu290=) c.816G>T (p.Leu272=) | |
| 20 | g.18526408_18526409insATA | CA2652042519 | SEC23B | c.870_871insATA (p.Leu290_Phe291insIle) c.816_817insATA (p.Leu272_Phe273insIle) | gnomAD v4 |
| 20 | g.18526409T>A | CA408360096 | SEC23B | c.871T>A (p.Phe291Ile) c.817T>A (p.Phe273Ile) | |
| 20 | g.18526409T>C | CA408360097 | SEC23B | c.871T>C (p.Phe291Leu) c.817T>C (p.Phe273Leu) | |
| 20 | g.18526409T>G | CA408360098 | SEC23B | c.871T>G (p.Phe291Val) c.817T>G (p.Phe273Val) | |
| 20 | g.18526411del | CA2740097033 | SEC23B | c.873del (p.Phe291LeufsTer18) c.819del (p.Phe273LeufsTer18) | ClinVar |
| 20 | g.18526410T>A | CA408360099 | SEC23B | c.872T>A (p.Phe291Tyr) c.818T>A (p.Phe273Tyr) | |
| 20 | g.18526410T>C | CA408360100 | SEC23B | c.872T>C (p.Phe291Ser) c.818T>C (p.Phe273Ser) | |
| 20 | g.18526410T>G | CA408360101 | SEC23B | c.872T>G (p.Phe291Cys) c.818T>G (p.Phe273Cys) | |
| 20 | g.18526411T>A | CA408360102 | SEC23B | c.873T>A (p.Phe291Leu) c.819T>A (p.Phe273Leu) | |
| 20 | g.18526411T>C | CA9778160 | SEC23B | c.873T>C (p.Phe291=) c.819T>C (p.Phe273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526411T>G | CA408360103 | SEC23B | c.873T>G (p.Phe291Leu) c.819T>G (p.Phe273Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.18526411T= | CA2353557125 | SEC23B | c.873T= (p.Phe291=) c.819T= (p.Phe273=) | |
| 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 |