| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283704A= | CA1397870830 | CASR | c.1519A= (p.Lys507=) c.1780A= (p.Lys594=) c.1750A= (p.Lys584=) c.1267A= (p.Lys423=) c.1162A= (p.Lys388=) | |
| 3 | g.122283704A>C | CA354157144 | CASR | c.1519A>C (p.Lys507Gln) c.1780A>C (p.Lys594Gln) c.1750A>C (p.Lys584Gln) c.1267A>C (p.Lys423Gln) c.1162A>C (p.Lys388Gln) | |
| 3 | g.122283704A>G | CA354157146 | CASR | c.1519A>G (p.Lys507Glu) c.1780A>G (p.Lys594Glu) c.1750A>G (p.Lys584Glu) c.1267A>G (p.Lys423Glu) c.1162A>G (p.Lys388Glu) | |
| 3 | g.122283704A>T | CA16604350 | CASR | c.1519A>T (p.Lys507Ter) c.1780A>T (p.Lys594Ter) c.1750A>T (p.Lys584Ter) c.1267A>T (p.Lys423Ter) c.1162A>T (p.Lys388Ter) | ClinVar dbSNP |
| 3 | g.122283705A= | CA1397870834 | CASR | c.1520A= (p.Lys507=) c.1781A= (p.Lys594=) c.1751A= (p.Lys584=) c.1268A= (p.Lys423=) c.1163A= (p.Lys388=) | |
| 3 | g.122283705A>C | CA354157149 | CASR | c.1520A>C (p.Lys507Thr) c.1781A>C (p.Lys594Thr) c.1751A>C (p.Lys584Thr) c.1268A>C (p.Lys423Thr) c.1163A>C (p.Lys388Thr) | ClinVar |
| 3 | g.122283705A>G | CA354157152 | CASR | c.1520A>G (p.Lys507Arg) c.1781A>G (p.Lys594Arg) c.1751A>G (p.Lys584Arg) c.1268A>G (p.Lys423Arg) c.1163A>G (p.Lys388Arg) | dbSNP gnomAD v2 |
| 3 | g.122283705A>T | CA354157153 | CASR | c.1520A>T (p.Lys507Met) c.1781A>T (p.Lys594Met) c.1751A>T (p.Lys584Met) c.1268A>T (p.Lys423Met) c.1163A>T (p.Lys388Met) | |
| 3 | g.122283706G>A | CA2569741 | CASR | c.1521G>A (p.Lys507=) c.1782G>A (p.Lys594=) c.1752G>A (p.Lys584=) c.1269G>A (p.Lys423=) c.1164G>A (p.Lys388=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283706G>C | CA354157159 | CASR | c.1521G>C (p.Lys507Asn) c.1782G>C (p.Lys594Asn) c.1752G>C (p.Lys584Asn) c.1269G>C (p.Lys423Asn) c.1164G>C (p.Lys388Asn) | |
| 3 | g.122283706G= | CA1397870837 | CASR | c.1521G= (p.Lys507=) c.1782G= (p.Lys594=) c.1752G= (p.Lys584=) c.1269G= (p.Lys423=) c.1164G= (p.Lys388=) | |
| 3 | g.122283706G>T | CA354157157 | CASR | c.1521G>T (p.Lys507Asn) c.1782G>T (p.Lys594Asn) c.1752G>T (p.Lys584Asn) c.1269G>T (p.Lys423Asn) c.1164G>T (p.Lys388Asn) | |
| 3 | g.122283707T>A | CA354157162 | CASR | c.1522T>A (p.Cys508Ser) c.1783T>A (p.Cys595Ser) c.1753T>A (p.Cys585Ser) c.1270T>A (p.Cys424Ser) c.1165T>A (p.Cys389Ser) | ClinVar |
| 3 | g.122283707T>C | CA354157163 | CASR | c.1522T>C (p.Cys508Arg) c.1783T>C (p.Cys595Arg) c.1753T>C (p.Cys585Arg) c.1270T>C (p.Cys424Arg) c.1165T>C (p.Cys389Arg) | |
| 3 | g.122283707T>G | CA354157165 | CASR | c.1522T>G (p.Cys508Gly) c.1783T>G (p.Cys595Gly) c.1753T>G (p.Cys585Gly) c.1270T>G (p.Cys424Gly) c.1165T>G (p.Cys389Gly) | |
| 3 | g.122283708G>A | CA354157168 | CASR | c.1523G>A (p.Cys508Tyr) c.1784G>A (p.Cys595Tyr) c.1754G>A (p.Cys585Tyr) c.1271G>A (p.Cys424Tyr) c.1166G>A (p.Cys389Tyr) | |
| 3 | g.122283708G>C | CA354157171 | CASR | c.1523G>C (p.Cys508Ser) c.1784G>C (p.Cys595Ser) c.1754G>C (p.Cys585Ser) c.1271G>C (p.Cys424Ser) c.1166G>C (p.Cys389Ser) | |
| 3 | g.122283708G>T | CA354157173 | CASR | c.1523G>T (p.Cys508Phe) c.1784G>T (p.Cys595Phe) c.1754G>T (p.Cys585Phe) c.1271G>T (p.Cys424Phe) c.1166G>T (p.Cys389Phe) | COSMIC |
| 3 | g.122283709C>A | CA354157177 | CASR | c.1524C>A (p.Cys508Ter) c.1785C>A (p.Cys595Ter) c.1755C>A (p.Cys585Ter) c.1272C>A (p.Cys424Ter) c.1167C>A (p.Cys389Ter) | |
| 3 | g.122283709C>G | CA354157176 | CASR | c.1524C>G (p.Cys508Trp) c.1785C>G (p.Cys595Trp) c.1755C>G (p.Cys585Trp) c.1272C>G (p.Cys424Trp) c.1167C>G (p.Cys389Trp) | ClinVar |
| 3 | g.122283709C>T | CA435251704 | CASR | c.1524C>T (p.Cys508=) c.1785C>T (p.Cys595=) c.1755C>T (p.Cys585=) c.1272C>T (p.Cys424=) c.1167C>T (p.Cys389=) | |
| 3 | g.122283710C>A | CA354157181 | CASR | c.1525C>A (p.Pro509Thr) c.1786C>A (p.Pro596Thr) c.1756C>A (p.Pro586Thr) c.1273C>A (p.Pro425Thr) c.1168C>A (p.Pro390Thr) | |
| 3 | g.122283710C>G | CA354157182 | CASR | c.1525C>G (p.Pro509Ala) c.1786C>G (p.Pro596Ala) c.1756C>G (p.Pro586Ala) c.1273C>G (p.Pro425Ala) c.1168C>G (p.Pro390Ala) | |
| 3 | g.122283710C>T | CA354157184 | CASR | c.1525C>T (p.Pro509Ser) c.1786C>T (p.Pro596Ser) c.1756C>T (p.Pro586Ser) c.1273C>T (p.Pro425Ser) c.1168C>T (p.Pro390Ser) | |
| 3 | g.122283711C>A | CA354157187 | CASR | c.1526C>A (p.Pro509Gln) c.1787C>A (p.Pro596Gln) c.1757C>A (p.Pro586Gln) c.1274C>A (p.Pro425Gln) c.1169C>A (p.Pro390Gln) | |
| 3 | g.122283711C>G | CA354157189 | CASR | c.1526C>G (p.Pro509Arg) c.1787C>G (p.Pro596Arg) c.1757C>G (p.Pro586Arg) c.1274C>G (p.Pro425Arg) c.1169C>G (p.Pro390Arg) | |
| 3 | g.122283711C>T | CA354157191 | CASR | c.1526C>T (p.Pro509Leu) c.1787C>T (p.Pro596Leu) c.1757C>T (p.Pro586Leu) c.1274C>T (p.Pro425Leu) c.1169C>T (p.Pro390Leu) | |
| 3 | g.122283712A>C | CA435251846 | CASR | c.1527A>C (p.Pro509=) c.1788A>C (p.Pro596=) c.1758A>C (p.Pro586=) c.1275A>C (p.Pro425=) c.1170A>C (p.Pro390=) | |
| 3 | g.122283712A>G | CA435251847 | CASR | c.1527A>G (p.Pro509=) c.1788A>G (p.Pro596=) c.1758A>G (p.Pro586=) c.1275A>G (p.Pro425=) c.1170A>G (p.Pro390=) | ClinVar |
| 3 | g.122283712A>T | CA435251848 | CASR | c.1527A>T (p.Pro509=) c.1788A>T (p.Pro596=) c.1758A>T (p.Pro586=) c.1275A>T (p.Pro425=) c.1170A>T (p.Pro390=) | |
| 3 | g.122283713G>A | CA354157193 | CASR | c.1528G>A (p.Asp510Asn) c.1789G>A (p.Asp597Asn) c.1759G>A (p.Asp587Asn) c.1276G>A (p.Asp426Asn) c.1171G>A (p.Asp391Asn) | |
| 3 | g.122283713G>C | CA354157198 | CASR | c.1528G>C (p.Asp510His) c.1789G>C (p.Asp597His) c.1759G>C (p.Asp587His) c.1276G>C (p.Asp426His) c.1171G>C (p.Asp391His) | |
| 3 | g.122283713G>T | CA354157196 | CASR | c.1528G>T (p.Asp510Tyr) c.1789G>T (p.Asp597Tyr) c.1759G>T (p.Asp587Tyr) c.1276G>T (p.Asp426Tyr) c.1171G>T (p.Asp391Tyr) | |
| 3 | g.122283713dup | CA2573136445 | CASR | c.1528dup (p.Asp510GlyfsTer2) c.1789dup (p.Asp597GlyfsTer2) c.1759dup (p.Asp587GlyfsTer2) c.1276dup (p.Asp426GlyfsTer2) c.1171dup (p.Asp391GlyfsTer2) | ClinVar dbSNP |
| 3 | g.122283714A>C | CA354157200 | CASR | c.1529A>C (p.Asp510Ala) c.1790A>C (p.Asp597Ala) c.1760A>C (p.Asp587Ala) c.1277A>C (p.Asp426Ala) c.1172A>C (p.Asp391Ala) | |
| 3 | g.122283714A>G | CA354157202 | CASR | c.1529A>G (p.Asp510Gly) c.1790A>G (p.Asp597Gly) c.1760A>G (p.Asp587Gly) c.1277A>G (p.Asp426Gly) c.1172A>G (p.Asp391Gly) | |
| 3 | g.122283714A>T | CA354157204 | CASR | c.1529A>T (p.Asp510Val) c.1790A>T (p.Asp597Val) c.1760A>T (p.Asp587Val) c.1277A>T (p.Asp426Val) c.1172A>T (p.Asp391Val) | |
| 3 | g.122283715T>A | CA354157207 | CASR | c.1530T>A (p.Asp510Glu) c.1791T>A (p.Asp597Glu) c.1761T>A (p.Asp587Glu) c.1278T>A (p.Asp426Glu) c.1173T>A (p.Asp391Glu) | ClinVar |
| 3 | g.122283715T>C | CA435251849 | CASR | c.1530T>C (p.Asp510=) c.1791T>C (p.Asp597=) c.1761T>C (p.Asp587=) c.1278T>C (p.Asp426=) c.1173T>C (p.Asp391=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283715T>G | CA354157208 | CASR | c.1530T>G (p.Asp510Glu) c.1791T>G (p.Asp597Glu) c.1761T>G (p.Asp587Glu) c.1278T>G (p.Asp426Glu) c.1173T>G (p.Asp391Glu) | |
| 3 | g.122283715T= | CA1397870842 | CASR | c.1530T= (p.Asp510=) c.1791T= (p.Asp597=) c.1761T= (p.Asp587=) c.1278T= (p.Asp426=) c.1173T= (p.Asp391=) | |
| 3 | g.122283716G>A | CA354157212 | CASR | c.1531G>A (p.Asp511Asn) c.1792G>A (p.Asp598Asn) c.1762G>A (p.Asp588Asn) c.1279G>A (p.Asp427Asn) c.1174G>A (p.Asp392Asn) | gnomAD v4 |
| 3 | g.122283716G>C | CA354157214 | CASR | c.1531G>C (p.Asp511His) c.1792G>C (p.Asp598His) c.1762G>C (p.Asp588His) c.1279G>C (p.Asp427His) c.1174G>C (p.Asp392His) | gnomAD v4 |
| 3 | g.122283716G>T | CA354157216 | CASR | c.1531G>T (p.Asp511Tyr) c.1792G>T (p.Asp598Tyr) c.1762G>T (p.Asp588Tyr) c.1279G>T (p.Asp427Tyr) c.1174G>T (p.Asp392Tyr) | |
| 3 | g.122283717A>C | CA354157217 | CASR | c.1532A>C (p.Asp511Ala) c.1793A>C (p.Asp598Ala) c.1763A>C (p.Asp588Ala) c.1280A>C (p.Asp427Ala) c.1175A>C (p.Asp392Ala) | |
| 3 | g.122283717A>G | CA354157220 | CASR | c.1532A>G (p.Asp511Gly) c.1793A>G (p.Asp598Gly) c.1763A>G (p.Asp588Gly) c.1280A>G (p.Asp427Gly) c.1175A>G (p.Asp392Gly) | |
| 3 | g.122283717A>T | CA354157222 | CASR | c.1532A>T (p.Asp511Val) c.1793A>T (p.Asp598Val) c.1763A>T (p.Asp588Val) c.1280A>T (p.Asp427Val) c.1175A>T (p.Asp392Val) | |
| 3 | g.122283718C>A | CA354157227 | CASR | c.1533C>A (p.Asp511Glu) c.1794C>A (p.Asp598Glu) c.1764C>A (p.Asp588Glu) c.1281C>A (p.Asp427Glu) c.1176C>A (p.Asp392Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283718C= | CA1397870844 | CASR | c.1533C= (p.Asp511=) c.1794C= (p.Asp598=) c.1764C= (p.Asp588=) c.1281C= (p.Asp427=) c.1176C= (p.Asp392=) | |
| 3 | g.122283718C>G | CA354157225 | CASR | c.1533C>G (p.Asp511Glu) c.1794C>G (p.Asp598Glu) c.1764C>G (p.Asp588Glu) c.1281C>G (p.Asp427Glu) c.1176C>G (p.Asp392Glu) |