| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.103100449_103100465dup | CA2626692203 | EXOC3L4 | c.230_246dup (p.Leu83GlyfsTer15) c.122_138dup (p.Leu47GlyfsTer15) c.404_420dup (p.Leu141GlyfsTer15) c.341_357dup (p.Leu120GlyfsTer15) n.959_975dup n.986_1002dup | gnomAD v4 |
| 14 | g.103100448dup | CA703283854 | EXOC3L4 | c.229dup (p.Arg77ProfsTer17) c.121dup (p.Arg41ProfsTer17) c.403dup (p.Arg135ProfsTer17) c.340dup (p.Arg114ProfsTer17) n.958dup n.985dup | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.103100448C>A | CA488193892 | EXOC3L4 | c.229C>A (p.Arg77=) c.121C>A (p.Arg41=) c.403C>A (p.Arg135=) c.340C>A (p.Arg114=) n.958C>A n.985C>A | gnomAD v4 |
| 14 | g.103100448C= | CA2160140070 | EXOC3L4 | c.229C= (p.Arg77=) c.121C= (p.Arg41=) c.403C= (p.Arg135=) c.340C= (p.Arg114=) n.958C= n.985C= | |
| 14 | g.103100448C>G | CA391081618 | EXOC3L4 | c.229C>G (p.Arg77Gly) c.121C>G (p.Arg41Gly) c.403C>G (p.Arg135Gly) c.340C>G (p.Arg114Gly) n.958C>G n.985C>G | |
| 14 | g.103100448C>T | CA7361825 | EXOC3L4 | c.229C>T (p.Arg77Trp) c.121C>T (p.Arg41Trp) c.403C>T (p.Arg135Trp) c.340C>T (p.Arg114Trp) n.958C>T n.985C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100449G>A | CA7361826 | EXOC3L4 | c.230G>A (p.Arg77Gln) c.122G>A (p.Arg41Gln) c.404G>A (p.Arg135Gln) c.341G>A (p.Arg114Gln) n.959G>A n.986G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100449G>C | CA391081622 | EXOC3L4 | c.230G>C (p.Arg77Pro) c.122G>C (p.Arg41Pro) c.404G>C (p.Arg135Pro) c.341G>C (p.Arg114Pro) n.959G>C n.986G>C | |
| 14 | g.103100449G= | CA2160140071 | EXOC3L4 | c.230G= (p.Arg77=) c.122G= (p.Arg41=) c.404G= (p.Arg135=) c.341G= (p.Arg114=) n.959G= n.986G= | |
| 14 | g.103100449G>T | CA7361827 | EXOC3L4 | c.230G>T (p.Arg77Leu) c.122G>T (p.Arg41Leu) c.404G>T (p.Arg135Leu) c.341G>T (p.Arg114Leu) n.959G>T n.986G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100450G>A | CA488193899 | EXOC3L4 | c.231G>A (p.Arg77=) c.123G>A (p.Arg41=) c.405G>A (p.Arg135=) c.342G>A (p.Arg114=) n.960G>A n.987G>A | dbSNP gnomAD v4 |
| 14 | g.103100450G>C | CA488193901 | EXOC3L4 | c.231G>C (p.Arg77=) c.123G>C (p.Arg41=) c.405G>C (p.Arg135=) c.342G>C (p.Arg114=) n.960G>C n.987G>C | |
| 14 | g.103100450G= | CA2160140072 | EXOC3L4 | c.231G= (p.Arg77=) c.123G= (p.Arg41=) c.405G= (p.Arg135=) c.342G= (p.Arg114=) n.960G= n.987G= | |
| 14 | g.103100450G>T | CA488193902 | EXOC3L4 | c.231G>T (p.Arg77=) c.123G>T (p.Arg41=) c.405G>T (p.Arg135=) c.342G>T (p.Arg114=) n.960G>T n.987G>T | |
| 14 | g.103100451C>A | CA488193903 | EXOC3L4 | c.232C>A (p.Arg78=) c.124C>A (p.Arg42=) c.406C>A (p.Arg136=) c.343C>A (p.Arg115=) n.961C>A n.988C>A | gnomAD v4 |
| 14 | g.103100451C= | CA2160140073 | EXOC3L4 | c.232C= (p.Arg78=) c.124C= (p.Arg42=) c.406C= (p.Arg136=) c.343C= (p.Arg115=) n.961C= n.988C= | |
| 14 | g.103100451C>G | CA391081625 | EXOC3L4 | c.232C>G (p.Arg78Gly) c.124C>G (p.Arg42Gly) c.406C>G (p.Arg136Gly) c.343C>G (p.Arg115Gly) n.961C>G n.988C>G | dbSNP |
| 14 | g.103100451C>T | CA7361828 | EXOC3L4 | c.232C>T (p.Arg78Ter) c.124C>T (p.Arg42Ter) c.406C>T (p.Arg136Ter) c.343C>T (p.Arg115Ter) n.961C>T n.988C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.103100452G>A | CA7361829 | EXOC3L4 | c.233G>A (p.Arg78Gln) c.125G>A (p.Arg42Gln) c.407G>A (p.Arg136Gln) c.344G>A (p.Arg115Gln) n.962G>A n.989G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.103100452G>C | CA391081629 | EXOC3L4 | c.233G>C (p.Arg78Pro) c.125G>C (p.Arg42Pro) c.407G>C (p.Arg136Pro) c.344G>C (p.Arg115Pro) n.962G>C n.989G>C | |
| 14 | g.103100452G= | CA2160140074 | EXOC3L4 | c.233G= (p.Arg78=) c.125G= (p.Arg42=) c.407G= (p.Arg136=) c.344G= (p.Arg115=) n.962G= n.989G= | |
| 14 | g.103100452G>T | CA391081631 | EXOC3L4 | c.233G>T (p.Arg78Leu) c.125G>T (p.Arg42Leu) c.407G>T (p.Arg136Leu) c.344G>T (p.Arg115Leu) n.962G>T n.989G>T | |
| 14 | g.103100453A>C | CA488193905 | EXOC3L4 | c.234A>C (p.Arg78=) c.126A>C (p.Arg42=) c.408A>C (p.Arg136=) c.345A>C (p.Arg115=) n.963A>C n.990A>C | dbSNP |
| 14 | g.103100453A>G | CA488193906 | EXOC3L4 | c.234A>G (p.Arg78=) c.126A>G (p.Arg42=) c.408A>G (p.Arg136=) c.345A>G (p.Arg115=) n.963A>G n.990A>G | |
| 14 | g.103100453A>T | CA488193907 | EXOC3L4 | c.234A>T (p.Arg78=) c.126A>T (p.Arg42=) c.408A>T (p.Arg136=) c.345A>T (p.Arg115=) n.963A>T n.990A>T | |
| 14 | g.103100454A>C | CA391081632 | EXOC3L4 | c.235A>C (p.Ser79Arg) c.127A>C (p.Ser43Arg) c.409A>C (p.Ser137Arg) c.346A>C (p.Ser116Arg) n.964A>C n.991A>C | |
| 14 | g.103100454A>G | CA391081633 | EXOC3L4 | c.235A>G (p.Ser79Gly) c.127A>G (p.Ser43Gly) c.409A>G (p.Ser137Gly) c.346A>G (p.Ser116Gly) n.964A>G n.991A>G | |
| 14 | g.103100454A>T | CA391081634 | EXOC3L4 | c.235A>T (p.Ser79Cys) c.127A>T (p.Ser43Cys) c.409A>T (p.Ser137Cys) c.346A>T (p.Ser116Cys) n.964A>T n.991A>T | |
| 14 | g.103100455G>A | CA391081635 | EXOC3L4 | c.236G>A (p.Ser79Asn) c.128G>A (p.Ser43Asn) c.410G>A (p.Ser137Asn) c.347G>A (p.Ser116Asn) n.965G>A n.992G>A | |
| 14 | g.103100455G>C | CA391081636 | EXOC3L4 | c.236G>C (p.Ser79Thr) c.128G>C (p.Ser43Thr) c.410G>C (p.Ser137Thr) c.347G>C (p.Ser116Thr) n.965G>C n.992G>C | |
| 14 | g.103100455G>T | CA391081639 | EXOC3L4 | c.236G>T (p.Ser79Ile) c.128G>T (p.Ser43Ile) c.410G>T (p.Ser137Ile) c.347G>T (p.Ser116Ile) n.965G>T n.992G>T | |
| 14 | g.103100456C>A | CA391081641 | EXOC3L4 | c.237C>A (p.Ser79Arg) c.129C>A (p.Ser43Arg) c.411C>A (p.Ser137Arg) c.348C>A (p.Ser116Arg) n.966C>A n.993C>A | |
| 14 | g.103100456C>G | CA391081643 | EXOC3L4 | c.237C>G (p.Ser79Arg) c.129C>G (p.Ser43Arg) c.411C>G (p.Ser137Arg) c.348C>G (p.Ser116Arg) n.966C>G n.993C>G | |
| 14 | g.103100456C>T | CA488193913 | EXOC3L4 | c.237C>T (p.Ser79=) c.129C>T (p.Ser43=) c.411C>T (p.Ser137=) c.348C>T (p.Ser116=) n.966C>T n.993C>T | gnomAD v4 |
| 14 | g.103100457T>A | CA391081647 | EXOC3L4 | c.238T>A (p.Ser80Thr) c.130T>A (p.Ser44Thr) c.412T>A (p.Ser138Thr) c.349T>A (p.Ser117Thr) n.967T>A n.994T>A | |
| 14 | g.103100457T>C | CA391081644 | EXOC3L4 | c.238T>C (p.Ser80Pro) c.130T>C (p.Ser44Pro) c.412T>C (p.Ser138Pro) c.349T>C (p.Ser117Pro) n.967T>C n.994T>C | |
| 14 | g.103100457T>G | CA391081646 | EXOC3L4 | c.238T>G (p.Ser80Ala) c.130T>G (p.Ser44Ala) c.412T>G (p.Ser138Ala) c.349T>G (p.Ser117Ala) n.967T>G n.994T>G | |
| 14 | g.103100458C>A | CA391081648 | EXOC3L4 | c.239C>A (p.Ser80Tyr) c.131C>A (p.Ser44Tyr) c.413C>A (p.Ser138Tyr) c.350C>A (p.Ser117Tyr) n.968C>A n.995C>A | |
| 14 | g.103100458C>G | CA391081650 | EXOC3L4 | c.239C>G (p.Ser80Cys) c.131C>G (p.Ser44Cys) c.413C>G (p.Ser138Cys) c.350C>G (p.Ser117Cys) n.968C>G n.995C>G | |
| 14 | g.103100458C>T | CA391081651 | EXOC3L4 | c.239C>T (p.Ser80Phe) c.131C>T (p.Ser44Phe) c.413C>T (p.Ser138Phe) c.350C>T (p.Ser117Phe) n.968C>T n.995C>T | COSMIC |
| 14 | g.103100459C>A | CA488193919 | EXOC3L4 | c.240C>A (p.Ser80=) c.132C>A (p.Ser44=) c.414C>A (p.Ser138=) c.351C>A (p.Ser117=) n.969C>A n.996C>A | |
| 14 | g.103100459C= | CA2160140075 | EXOC3L4 | c.240C= (p.Ser80=) c.132C= (p.Ser44=) c.414C= (p.Ser138=) c.351C= (p.Ser117=) n.969C= n.996C= | |
| 14 | g.103100459C>G | CA488193921 | EXOC3L4 | c.240C>G (p.Ser80=) c.132C>G (p.Ser44=) c.414C>G (p.Ser138=) c.351C>G (p.Ser117=) n.969C>G n.996C>G | dbSNP |
| 14 | g.103100459C>T | CA267170863 | EXOC3L4 | c.240C>T (p.Ser80=) c.132C>T (p.Ser44=) c.414C>T (p.Ser138=) c.351C>T (p.Ser117=) n.969C>T n.996C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.103100460T>A | CA391081656 | EXOC3L4 | c.241T>A (p.Cys81Ser) c.133T>A (p.Cys45Ser) c.415T>A (p.Cys139Ser) c.352T>A (p.Cys118Ser) n.970T>A n.997T>A | |
| 14 | g.103100460T>C | CA391081658 | EXOC3L4 | c.241T>C (p.Cys81Arg) c.133T>C (p.Cys45Arg) c.415T>C (p.Cys139Arg) c.352T>C (p.Cys118Arg) n.970T>C n.997T>C | |
| 14 | g.103100460T>G | CA391081659 | EXOC3L4 | c.241T>G (p.Cys81Gly) c.133T>G (p.Cys45Gly) c.415T>G (p.Cys139Gly) c.352T>G (p.Cys118Gly) n.970T>G n.997T>G | |
| 14 | g.103100461G>A | CA391081660 | EXOC3L4 | c.242G>A (p.Cys81Tyr) c.134G>A (p.Cys45Tyr) c.416G>A (p.Cys139Tyr) c.353G>A (p.Cys118Tyr) n.971G>A n.998G>A | |
| 14 | g.103100461G>C | CA7361830 | EXOC3L4 | c.242G>C (p.Cys81Ser) c.134G>C (p.Cys45Ser) c.416G>C (p.Cys139Ser) c.353G>C (p.Cys118Ser) n.971G>C n.998G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.103100461G= | CA2160140076 | EXOC3L4 | c.242G= (p.Cys81=) c.134G= (p.Cys45=) c.416G= (p.Cys139=) c.353G= (p.Cys118=) n.971G= n.998G= |