| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.103100342_103100349del | CA2730322688 | EXOC3L4 | c.123_130del (p.His41GlnfsTer?) c.15_22del (p.His5GlnfsTer?) c.297_304del (p.His99GlnfsTer?) c.234_241del (p.His78GlnfsTer?) n.852_859del n.879_886del | dbSNP |
| 14 | g.103100348G>A | CA488193627 | EXOC3L4 | c.129G>A (p.Lys43=) c.21G>A (p.Lys7=) c.303G>A (p.Lys101=) c.240G>A (p.Lys80=) n.858G>A n.885G>A | |
| 14 | g.103100348G>C | CA391081100 | EXOC3L4 | c.129G>C (p.Lys43Asn) c.21G>C (p.Lys7Asn) c.303G>C (p.Lys101Asn) c.240G>C (p.Lys80Asn) n.858G>C n.885G>C | |
| 14 | g.103100348G>T | CA391081102 | EXOC3L4 | c.129G>T (p.Lys43Asn) c.21G>T (p.Lys7Asn) c.303G>T (p.Lys101Asn) c.240G>T (p.Lys80Asn) n.858G>T n.885G>T | |
| 14 | g.103100349G>A | CA391081105 | EXOC3L4 | c.130G>A (p.Asp44Asn) c.22G>A (p.Asp8Asn) c.304G>A (p.Asp102Asn) c.241G>A (p.Asp81Asn) n.859G>A n.886G>A | |
| 14 | g.103100349G>C | CA391081108 | EXOC3L4 | c.130G>C (p.Asp44His) c.22G>C (p.Asp8His) c.304G>C (p.Asp102His) c.241G>C (p.Asp81His) n.859G>C n.886G>C | |
| 14 | g.103100349G>T | CA391081106 | EXOC3L4 | c.130G>T (p.Asp44Tyr) c.22G>T (p.Asp8Tyr) c.304G>T (p.Asp102Tyr) c.241G>T (p.Asp81Tyr) n.859G>T n.886G>T | |
| 14 | g.103100350A>C | CA391081111 | EXOC3L4 | c.131A>C (p.Asp44Ala) c.23A>C (p.Asp8Ala) c.305A>C (p.Asp102Ala) c.242A>C (p.Asp81Ala) n.860A>C n.887A>C | |
| 14 | g.103100350A>G | CA391081112 | EXOC3L4 | c.131A>G (p.Asp44Gly) c.23A>G (p.Asp8Gly) c.305A>G (p.Asp102Gly) c.242A>G (p.Asp81Gly) n.860A>G n.887A>G | |
| 14 | g.103100350A>T | CA391081114 | EXOC3L4 | c.131A>T (p.Asp44Val) c.23A>T (p.Asp8Val) c.305A>T (p.Asp102Val) c.242A>T (p.Asp81Val) n.860A>T n.887A>T | |
| 14 | g.103100351T>A | CA391081115 | EXOC3L4 | c.132T>A (p.Asp44Glu) c.24T>A (p.Asp8Glu) c.306T>A (p.Asp102Glu) c.243T>A (p.Asp81Glu) n.861T>A n.888T>A | |
| 14 | g.103100351T>C | CA488193630 | EXOC3L4 | c.132T>C (p.Asp44=) c.24T>C (p.Asp8=) c.306T>C (p.Asp102=) c.243T>C (p.Asp81=) n.861T>C n.888T>C | |
| 14 | g.103100351T>G | CA391081118 | EXOC3L4 | c.132T>G (p.Asp44Glu) c.24T>G (p.Asp8Glu) c.306T>G (p.Asp102Glu) c.243T>G (p.Asp81Glu) n.861T>G n.888T>G | |
| 14 | g.103100352G>A | CA391081120 | EXOC3L4 | c.133G>A (p.Gly45Ser) c.25G>A (p.Gly9Ser) c.307G>A (p.Gly103Ser) c.244G>A (p.Gly82Ser) n.862G>A n.889G>A | |
| 14 | g.103100352G>C | CA391081122 | EXOC3L4 | c.133G>C (p.Gly45Arg) c.25G>C (p.Gly9Arg) c.307G>C (p.Gly103Arg) c.244G>C (p.Gly82Arg) n.862G>C n.889G>C | |
| 14 | g.103100352G>T | CA391081124 | EXOC3L4 | c.133G>T (p.Gly45Cys) c.25G>T (p.Gly9Cys) c.307G>T (p.Gly103Cys) c.244G>T (p.Gly82Cys) n.862G>T n.889G>T | gnomAD v4 |
| 14 | g.103100353G>A | CA391081126 | EXOC3L4 | c.134G>A (p.Gly45Asp) c.26G>A (p.Gly9Asp) c.308G>A (p.Gly103Asp) c.245G>A (p.Gly82Asp) n.863G>A n.890G>A | gnomAD v4 |
| 14 | g.103100353G>C | CA391081128 | EXOC3L4 | c.134G>C (p.Gly45Ala) c.26G>C (p.Gly9Ala) c.308G>C (p.Gly103Ala) c.245G>C (p.Gly82Ala) n.863G>C n.890G>C | |
| 14 | g.103100353G>T | CA391081130 | EXOC3L4 | c.134G>T (p.Gly45Val) c.26G>T (p.Gly9Val) c.308G>T (p.Gly103Val) c.245G>T (p.Gly82Val) n.863G>T n.890G>T | |
| 14 | g.103100354C>A | CA488193632 | EXOC3L4 | c.135C>A (p.Gly45=) c.27C>A (p.Gly9=) c.309C>A (p.Gly103=) c.246C>A (p.Gly82=) n.864C>A n.891C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100354C= | CA2160140022 | EXOC3L4 | c.135C= (p.Gly45=) c.27C= (p.Gly9=) c.309C= (p.Gly103=) c.246C= (p.Gly82=) n.864C= n.891C= | |
| 14 | g.103100354C>G | CA488193651 | EXOC3L4 | c.135C>G (p.Gly45=) c.27C>G (p.Gly9=) c.309C>G (p.Gly103=) c.246C>G (p.Gly82=) n.864C>G n.891C>G | gnomAD v4 |
| 14 | g.103100354C>T | CA488193652 | EXOC3L4 | c.135C>T (p.Gly45=) c.27C>T (p.Gly9=) c.309C>T (p.Gly103=) c.246C>T (p.Gly82=) n.864C>T n.891C>T | dbSNP gnomAD v4 |
| 14 | g.103100355A>C | CA391081137 | EXOC3L4 | c.136A>C (p.Thr46Pro) c.28A>C (p.Thr10Pro) c.310A>C (p.Thr104Pro) c.247A>C (p.Thr83Pro) n.865A>C n.892A>C | |
| 14 | g.103100355A>G | CA391081135 | EXOC3L4 | c.136A>G (p.Thr46Ala) c.28A>G (p.Thr10Ala) c.310A>G (p.Thr104Ala) c.247A>G (p.Thr83Ala) n.865A>G n.892A>G | |
| 14 | g.103100355A>T | CA391081133 | EXOC3L4 | c.136A>T (p.Thr46Ser) c.28A>T (p.Thr10Ser) c.310A>T (p.Thr104Ser) c.247A>T (p.Thr83Ser) n.865A>T n.892A>T | |
| 14 | g.103100356C>A | CA391081139 | EXOC3L4 | c.137C>A (p.Thr46Lys) c.29C>A (p.Thr10Lys) c.311C>A (p.Thr104Lys) c.248C>A (p.Thr83Lys) n.866C>A n.893C>A | |
| 14 | g.103100356C= | CA2160140023 | EXOC3L4 | c.137C= (p.Thr46=) c.29C= (p.Thr10=) c.311C= (p.Thr104=) c.248C= (p.Thr83=) n.866C= n.893C= | |
| 14 | g.103100356C>G | CA391081140 | EXOC3L4 | c.137C>G (p.Thr46Arg) c.29C>G (p.Thr10Arg) c.311C>G (p.Thr104Arg) c.248C>G (p.Thr83Arg) n.866C>G n.893C>G | |
| 14 | g.103100356C>T | CA391081142 | EXOC3L4 | c.137C>T (p.Thr46Ile) c.29C>T (p.Thr10Ile) c.311C>T (p.Thr104Ile) c.248C>T (p.Thr83Ile) n.866C>T n.893C>T | dbSNP gnomAD v4 |
| 14 | g.103100357A>C | CA488193657 | EXOC3L4 | c.138A>C (p.Thr46=) c.30A>C (p.Thr10=) c.312A>C (p.Thr104=) c.249A>C (p.Thr83=) n.867A>C n.894A>C | |
| 14 | g.103100357A>G | CA488193656 | EXOC3L4 | c.138A>G (p.Thr46=) c.30A>G (p.Thr10=) c.312A>G (p.Thr104=) c.249A>G (p.Thr83=) n.867A>G n.894A>G | gnomAD v4 |
| 14 | g.103100357A>T | CA488193655 | EXOC3L4 | c.138A>T (p.Thr46=) c.30A>T (p.Thr10=) c.312A>T (p.Thr104=) c.249A>T (p.Thr83=) n.867A>T n.894A>T | |
| 14 | g.103100358A= | CA2160140024 | EXOC3L4 | c.139A= (p.Arg47=) c.31A= (p.Arg11=) c.313A= (p.Arg105=) c.250A= (p.Arg84=) n.868A= n.895A= | |
| 14 | g.103100358A>C | CA488193660 | EXOC3L4 | c.139A>C (p.Arg47=) c.31A>C (p.Arg11=) c.313A>C (p.Arg105=) c.250A>C (p.Arg84=) n.868A>C n.895A>C | |
| 14 | g.103100358A>G | CA391081144 | EXOC3L4 | c.139A>G (p.Arg47Gly) c.31A>G (p.Arg11Gly) c.313A>G (p.Arg105Gly) c.250A>G (p.Arg84Gly) n.868A>G n.895A>G | dbSNP gnomAD v2 |
| 14 | g.103100358A>T | CA391081146 | EXOC3L4 | c.139A>T (p.Arg47Trp) c.31A>T (p.Arg11Trp) c.313A>T (p.Arg105Trp) c.250A>T (p.Arg84Trp) n.868A>T n.895A>T | |
| 14 | g.103100359G>A | CA7361808 | EXOC3L4 | c.140G>A (p.Arg47Lys) c.32G>A (p.Arg11Lys) c.314G>A (p.Arg105Lys) c.251G>A (p.Arg84Lys) n.869G>A n.896G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.103100359G>C | CA391081147 | EXOC3L4 | c.140G>C (p.Arg47Thr) c.32G>C (p.Arg11Thr) c.314G>C (p.Arg105Thr) c.251G>C (p.Arg84Thr) n.869G>C n.896G>C | |
| 14 | g.103100359G= | CA2160140025 | EXOC3L4 | c.140G= (p.Arg47=) c.32G= (p.Arg11=) c.314G= (p.Arg105=) c.251G= (p.Arg84=) n.869G= n.896G= | |
| 14 | g.103100359G>T | CA391081149 | EXOC3L4 | c.140G>T (p.Arg47Met) c.32G>T (p.Arg11Met) c.314G>T (p.Arg105Met) c.251G>T (p.Arg84Met) n.869G>T n.896G>T | |
| 14 | g.103100360G>A | CA488193661 | EXOC3L4 | c.141G>A (p.Arg47=) c.33G>A (p.Arg11=) c.315G>A (p.Arg105=) c.252G>A (p.Arg84=) n.870G>A n.897G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100360G>C | CA391081151 | EXOC3L4 | c.141G>C (p.Arg47Ser) c.33G>C (p.Arg11Ser) c.315G>C (p.Arg105Ser) c.252G>C (p.Arg84Ser) n.870G>C n.897G>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.103100360G= | CA2160140026 | EXOC3L4 | c.141G= (p.Arg47=) c.33G= (p.Arg11=) c.315G= (p.Arg105=) c.252G= (p.Arg84=) n.870G= n.897G= | |
| 14 | g.103100360G>T | CA391081152 | EXOC3L4 | c.141G>T (p.Arg47Ser) c.33G>T (p.Arg11Ser) c.315G>T (p.Arg105Ser) c.252G>T (p.Arg84Ser) n.870G>T n.897G>T | gnomAD v4 |
| 14 | g.103100361C>A | CA391081154 | EXOC3L4 | c.142C>A (p.Leu48Met) c.34C>A (p.Leu12Met) c.316C>A (p.Leu106Met) c.253C>A (p.Leu85Met) n.871C>A n.898C>A | |
| 14 | g.103100361C>G | CA391081156 | EXOC3L4 | c.142C>G (p.Leu48Val) c.34C>G (p.Leu12Val) c.316C>G (p.Leu106Val) c.253C>G (p.Leu85Val) n.871C>G n.898C>G | |
| 14 | g.103100361C>T | CA488193664 | EXOC3L4 | c.142C>T (p.Leu48=) c.34C>T (p.Leu12=) c.316C>T (p.Leu106=) c.253C>T (p.Leu85=) n.871C>T n.898C>T | gnomAD v4 |
| 14 | g.103100362T>A | CA391081162 | EXOC3L4 | c.143T>A (p.Leu48Gln) c.35T>A (p.Leu12Gln) c.317T>A (p.Leu106Gln) c.254T>A (p.Leu85Gln) n.872T>A n.899T>A | |
| 14 | g.103100362T>C | CA391081160 | EXOC3L4 | c.143T>C (p.Leu48Pro) c.35T>C (p.Leu12Pro) c.317T>C (p.Leu106Pro) c.254T>C (p.Leu85Pro) n.872T>C n.899T>C |