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 |
|---|---|---|---|---|---|
| 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) | |
| 3 | g.122283718C>T | CA435251850 | CASR | c.1533C>T (p.Asp511=) c.1794C>T (p.Asp598=) c.1764C>T (p.Asp588=) c.1281C>T (p.Asp427=) c.1176C>T (p.Asp392=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283719T>A | CA354157229 | CASR | c.1534T>A (p.Phe512Ile) c.1795T>A (p.Phe599Ile) c.1765T>A (p.Phe589Ile) c.1282T>A (p.Phe428Ile) c.1177T>A (p.Phe393Ile) | |
| 3 | g.122283719T>C | CA354157233 | CASR | c.1534T>C (p.Phe512Leu) c.1795T>C (p.Phe599Leu) c.1765T>C (p.Phe589Leu) c.1282T>C (p.Phe428Leu) c.1177T>C (p.Phe393Leu) | gnomAD v4 |
| 3 | g.122283719T>G | CA354157231 | CASR | c.1534T>G (p.Phe512Val) c.1795T>G (p.Phe599Val) c.1765T>G (p.Phe589Val) c.1282T>G (p.Phe428Val) c.1177T>G (p.Phe393Val) | ClinVar dbSNP |
| 3 | g.122283719T= | CA1397870847 | CASR | c.1534T= (p.Phe512=) c.1795T= (p.Phe599=) c.1765T= (p.Phe589=) c.1282T= (p.Phe428=) c.1177T= (p.Phe393=) | |
| 3 | g.122283720T>A | CA354157235 | CASR | c.1535T>A (p.Phe512Tyr) c.1796T>A (p.Phe599Tyr) c.1766T>A (p.Phe589Tyr) c.1283T>A (p.Phe428Tyr) c.1178T>A (p.Phe393Tyr) | |
| 3 | g.122283720T>C | CA354157236 | CASR | c.1535T>C (p.Phe512Ser) c.1796T>C (p.Phe599Ser) c.1766T>C (p.Phe589Ser) c.1283T>C (p.Phe428Ser) c.1178T>C (p.Phe393Ser) | gnomAD v4 |
| 3 | g.122283720T>G | CA354157238 | CASR | c.1535T>G (p.Phe512Cys) c.1796T>G (p.Phe599Cys) c.1766T>G (p.Phe589Cys) c.1283T>G (p.Phe428Cys) c.1178T>G (p.Phe393Cys) | |
| 3 | g.122283721C>A | CA354157240 | CASR | c.1536C>A (p.Phe512Leu) c.1797C>A (p.Phe599Leu) c.1767C>A (p.Phe589Leu) c.1284C>A (p.Phe428Leu) c.1179C>A (p.Phe393Leu) | |
| 3 | g.122283721C= | CA1397870850 | CASR | c.1536C= (p.Phe512=) c.1797C= (p.Phe599=) c.1767C= (p.Phe589=) c.1284C= (p.Phe428=) c.1179C= (p.Phe393=) | |
| 3 | g.122283721C>G | CA354157242 | CASR | c.1536C>G (p.Phe512Leu) c.1797C>G (p.Phe599Leu) c.1767C>G (p.Phe589Leu) c.1284C>G (p.Phe428Leu) c.1179C>G (p.Phe393Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283721C>T | CA435251851 | CASR | c.1536C>T (p.Phe512=) c.1797C>T (p.Phe599=) c.1767C>T (p.Phe589=) c.1284C>T (p.Phe428=) c.1179C>T (p.Phe393=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283722T>A | CA354157244 | CASR | c.1537T>A (p.Trp513Arg) c.1798T>A (p.Trp600Arg) c.1768T>A (p.Trp590Arg) c.1285T>A (p.Trp429Arg) c.1180T>A (p.Trp394Arg) | |
| 3 | g.122283722T>C | CA354157247 | CASR | c.1537T>C (p.Trp513Arg) c.1798T>C (p.Trp600Arg) c.1768T>C (p.Trp590Arg) c.1285T>C (p.Trp429Arg) c.1180T>C (p.Trp394Arg) | |
| 3 | g.122283722T>G | CA354157249 | CASR | c.1537T>G (p.Trp513Gly) c.1798T>G (p.Trp600Gly) c.1768T>G (p.Trp590Gly) c.1285T>G (p.Trp429Gly) c.1180T>G (p.Trp394Gly) | |
| 3 | g.122283723G>A | CA354157251 | CASR | c.1538G>A (p.Trp513Ter) c.1799G>A (p.Trp600Ter) c.1769G>A (p.Trp590Ter) c.1286G>A (p.Trp429Ter) c.1181G>A (p.Trp394Ter) | |
| 3 | g.122283723G>C | CA354157253 | CASR | c.1538G>C (p.Trp513Ser) c.1799G>C (p.Trp600Ser) c.1769G>C (p.Trp590Ser) c.1286G>C (p.Trp429Ser) c.1181G>C (p.Trp394Ser) | |
| 3 | g.122283723G>T | CA354157255 | CASR | c.1538G>T (p.Trp513Leu) c.1799G>T (p.Trp600Leu) c.1769G>T (p.Trp590Leu) c.1286G>T (p.Trp429Leu) c.1181G>T (p.Trp394Leu) | |
| 3 | g.122283724del | CA645526042 | CASR | c.1539del (p.Trp513CysfsTer?) c.1800del (p.Trp600CysfsTer?) c.1770del (p.Trp590CysfsTer?) c.1287del (p.Trp429CysfsTer?) c.1182del (p.Trp394CysfsTer?) | COSMIC |
| 3 | g.122283724G>A | CA354157257 | CASR | c.1539G>A (p.Trp513Ter) c.1800G>A (p.Trp600Ter) c.1770G>A (p.Trp590Ter) c.1287G>A (p.Trp429Ter) c.1182G>A (p.Trp394Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283724G>C | CA354157260 | CASR | c.1539G>C (p.Trp513Cys) c.1800G>C (p.Trp600Cys) c.1770G>C (p.Trp590Cys) c.1287G>C (p.Trp429Cys) c.1182G>C (p.Trp394Cys) | gnomAD v4 |
| 3 | g.122283724G= | CA1397870854 | CASR | c.1539G= (p.Trp513=) c.1800G= (p.Trp600=) c.1770G= (p.Trp590=) c.1287G= (p.Trp429=) c.1182G= (p.Trp394=) | |
| 3 | g.122283724G>T | CA354157262 | CASR | c.1539G>T (p.Trp513Cys) c.1800G>T (p.Trp600Cys) c.1770G>T (p.Trp590Cys) c.1287G>T (p.Trp429Cys) c.1182G>T (p.Trp394Cys) | |
| 3 | g.122283725T>A | CA354157269 | CASR | c.1540T>A (p.Ser514Thr) c.1801T>A (p.Ser601Thr) c.1771T>A (p.Ser591Thr) c.1288T>A (p.Ser430Thr) c.1183T>A (p.Ser395Thr) | |
| 3 | g.122283725T>C | CA354157267 | CASR | c.1540T>C (p.Ser514Pro) c.1801T>C (p.Ser601Pro) c.1771T>C (p.Ser591Pro) c.1288T>C (p.Ser430Pro) c.1183T>C (p.Ser395Pro) | |
| 3 | g.122283725T>G | CA354157264 | CASR | c.1540T>G (p.Ser514Ala) c.1801T>G (p.Ser601Ala) c.1771T>G (p.Ser591Ala) c.1288T>G (p.Ser430Ala) c.1183T>G (p.Ser395Ala) | |
| 3 | g.122283726C>A | CA354157270 | CASR | c.1541C>A (p.Ser514Tyr) c.1802C>A (p.Ser601Tyr) c.1772C>A (p.Ser591Tyr) c.1289C>A (p.Ser430Tyr) c.1184C>A (p.Ser395Tyr) | |
| 3 | g.122283726C>G | CA354157273 | CASR | c.1541C>G (p.Ser514Cys) c.1802C>G (p.Ser601Cys) c.1772C>G (p.Ser591Cys) c.1289C>G (p.Ser430Cys) c.1184C>G (p.Ser395Cys) | |
| 3 | g.122283726C>T | CA354157274 | CASR | c.1541C>T (p.Ser514Phe) c.1802C>T (p.Ser601Phe) c.1772C>T (p.Ser591Phe) c.1289C>T (p.Ser430Phe) c.1184C>T (p.Ser395Phe) | ClinVar |
| 3 | g.122283727C>A | CA435251852 | CASR | c.1542C>A (p.Ser514=) c.1803C>A (p.Ser601=) c.1773C>A (p.Ser591=) c.1290C>A (p.Ser430=) c.1185C>A (p.Ser395=) | |
| 3 | g.122283727C>G | CA435251853 | CASR | c.1542C>G (p.Ser514=) c.1803C>G (p.Ser601=) c.1773C>G (p.Ser591=) c.1290C>G (p.Ser430=) c.1185C>G (p.Ser395=) | |
| 3 | g.122283727C>T | CA435251854 | CASR | c.1542C>T (p.Ser514=) c.1803C>T (p.Ser601=) c.1773C>T (p.Ser591=) c.1290C>T (p.Ser430=) c.1185C>T (p.Ser395=) | |
| 3 | g.122283727_122283728del | CA2499216408 | CASR | c.1542_1543del (p.Asn515Ter) c.1803_1804del (p.Asn602Ter) c.1773_1774del (p.Asn592Ter) c.1290_1291del (p.Asn431Ter) c.1185_1186del (p.Asn396Ter) | ClinVar dbSNP |
| 3 | g.122283728A= | CA1397870860 | CASR | c.1543A= (p.Asn515=) c.1804A= (p.Asn602=) c.1774A= (p.Asn592=) c.1291A= (p.Asn431=) c.1186A= (p.Asn396=) | |
| 3 | g.122283728A>C | CA354157276 | CASR | c.1543A>C (p.Asn515His) c.1804A>C (p.Asn602His) c.1774A>C (p.Asn592His) c.1291A>C (p.Asn431His) c.1186A>C (p.Asn396His) | |
| 3 | g.122283728A>G | CA354157278 | CASR | c.1543A>G (p.Asn515Asp) c.1804A>G (p.Asn602Asp) c.1774A>G (p.Asn592Asp) c.1291A>G (p.Asn431Asp) c.1186A>G (p.Asn396Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283728A>T | CA354157280 | CASR | c.1543A>T (p.Asn515Tyr) c.1804A>T (p.Asn602Tyr) c.1774A>T (p.Asn592Tyr) c.1291A>T (p.Asn431Tyr) c.1186A>T (p.Asn396Tyr) | |
| 3 | g.122283729A= | CA1397870863 | CASR | c.1544A= (p.Asn515=) c.1805A= (p.Asn602=) c.1775A= (p.Asn592=) c.1292A= (p.Asn431=) c.1187A= (p.Asn396=) | |
| 3 | g.122283729A>C | CA354157282 | CASR | c.1544A>C (p.Asn515Thr) c.1805A>C (p.Asn602Thr) c.1775A>C (p.Asn592Thr) c.1292A>C (p.Asn431Thr) c.1187A>C (p.Asn396Thr) | |
| 3 | g.122283729A>G | CA2569742 | CASR | c.1544A>G (p.Asn515Ser) c.1805A>G (p.Asn602Ser) c.1775A>G (p.Asn592Ser) c.1292A>G (p.Asn431Ser) c.1187A>G (p.Asn396Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283729A>T | CA354157285 | CASR | c.1544A>T (p.Asn515Ile) c.1805A>T (p.Asn602Ile) c.1775A>T (p.Asn592Ile) c.1292A>T (p.Asn431Ile) c.1187A>T (p.Asn396Ile) | ClinVar |
| 3 | g.122283730T>A | CA354157286 | CASR | c.1545T>A (p.Asn515Lys) c.1806T>A (p.Asn602Lys) c.1776T>A (p.Asn592Lys) c.1293T>A (p.Asn431Lys) c.1188T>A (p.Asn396Lys) | ClinVar dbSNP |
| 3 | g.122283730T>C | CA435251855 | CASR | c.1545T>C (p.Asn515=) c.1806T>C (p.Asn602=) c.1776T>C (p.Asn592=) c.1293T>C (p.Asn431=) c.1188T>C (p.Asn396=) | |
| 3 | g.122283730T>G | CA354157288 | CASR | c.1545T>G (p.Asn515Lys) c.1806T>G (p.Asn602Lys) c.1776T>G (p.Asn592Lys) c.1293T>G (p.Asn431Lys) c.1188T>G (p.Asn396Lys) | gnomAD v4 |
| 3 | g.122283731G>A | CA82748532 | CASR | c.1546G>A (p.Glu516Lys) c.1807G>A (p.Glu603Lys) c.1777G>A (p.Glu593Lys) c.1294G>A (p.Glu432Lys) c.1189G>A (p.Glu397Lys) | dbSNP |
| 3 | g.122283731G>C | CA354157291 | CASR | c.1546G>C (p.Glu516Gln) c.1807G>C (p.Glu603Gln) c.1777G>C (p.Glu593Gln) c.1294G>C (p.Glu432Gln) c.1189G>C (p.Glu397Gln) | |
| 3 | g.122283731G= | CA1397870886 | CASR | c.1546G= (p.Glu516=) c.1807G= (p.Glu603=) c.1777G= (p.Glu593=) c.1294G= (p.Glu432=) c.1189G= (p.Glu397=) | |
| 3 | g.122283731G>T | CA354157292 | CASR | c.1546G>T (p.Glu516Ter) c.1807G>T (p.Glu603Ter) c.1777G>T (p.Glu593Ter) c.1294G>T (p.Glu432Ter) c.1189G>T (p.Glu397Ter) | |
| 3 | g.122283732A= | CA1397870891 | CASR | c.1547A= (p.Glu516=) c.1808A= (p.Glu603=) c.1778A= (p.Glu593=) c.1295A= (p.Glu432=) c.1190A= (p.Glu397=) | |
| 3 | g.122283732A>C | CA354157296 | CASR | c.1547A>C (p.Glu516Ala) c.1808A>C (p.Glu603Ala) c.1778A>C (p.Glu593Ala) c.1295A>C (p.Glu432Ala) c.1190A>C (p.Glu397Ala) | |
| 3 | g.122283732A>G | CA354157297 | CASR | c.1547A>G (p.Glu516Gly) c.1808A>G (p.Glu603Gly) c.1778A>G (p.Glu593Gly) c.1295A>G (p.Glu432Gly) c.1190A>G (p.Glu397Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283732A>T | CA354157294 | CASR | c.1547A>T (p.Glu516Val) c.1808A>T (p.Glu603Val) c.1778A>T (p.Glu593Val) c.1295A>T (p.Glu432Val) c.1190A>T (p.Glu397Val) | |
| 3 | g.122283733G>A | CA435251856 | CASR | c.1548G>A (p.Glu516=) c.1809G>A (p.Glu603=) c.1779G>A (p.Glu593=) c.1296G>A (p.Glu432=) c.1191G>A (p.Glu397=) | |
| 3 | g.122283733G>C | CA354157299 | CASR | c.1548G>C (p.Glu516Asp) c.1809G>C (p.Glu603Asp) c.1779G>C (p.Glu593Asp) c.1296G>C (p.Glu432Asp) c.1191G>C (p.Glu397Asp) | |
| 3 | g.122283733G>T | CA354157302 | CASR | c.1548G>T (p.Glu516Asp) c.1809G>T (p.Glu603Asp) c.1779G>T (p.Glu593Asp) c.1296G>T (p.Glu432Asp) c.1191G>T (p.Glu397Asp) | |
| 3 | g.122283734A>C | CA354157304 | CASR | c.1549A>C (p.Asn517His) c.1810A>C (p.Asn604His) c.1780A>C (p.Asn594His) c.1297A>C (p.Asn433His) c.1192A>C (p.Asn398His) | |
| 3 | g.122283734A>G | CA354157306 | CASR | c.1549A>G (p.Asn517Asp) c.1810A>G (p.Asn604Asp) c.1780A>G (p.Asn594Asp) c.1297A>G (p.Asn433Asp) c.1192A>G (p.Asn398Asp) | |
| 3 | g.122283734A>T | CA354157308 | CASR | c.1549A>T (p.Asn517Tyr) c.1810A>T (p.Asn604Tyr) c.1780A>T (p.Asn594Tyr) c.1297A>T (p.Asn433Tyr) c.1192A>T (p.Asn398Tyr) | |
| 3 | g.122283735A= | CA1397870893 | CASR | c.1550A= (p.Asn517=) c.1811A= (p.Asn604=) c.1781A= (p.Asn594=) c.1298A= (p.Asn433=) c.1193A= (p.Asn398=) | |
| 3 | g.122283735A>C | CA354157310 | CASR | c.1550A>C (p.Asn517Thr) c.1811A>C (p.Asn604Thr) c.1781A>C (p.Asn594Thr) c.1298A>C (p.Asn433Thr) c.1193A>C (p.Asn398Thr) | |
| 3 | g.122283735A>G | CA2569743 | CASR | c.1550A>G (p.Asn517Ser) c.1811A>G (p.Asn604Ser) c.1781A>G (p.Asn594Ser) c.1298A>G (p.Asn433Ser) c.1193A>G (p.Asn398Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283735A>T | CA354157312 | CASR | c.1550A>T (p.Asn517Ile) c.1811A>T (p.Asn604Ile) c.1781A>T (p.Asn594Ile) c.1298A>T (p.Asn433Ile) c.1193A>T (p.Asn398Ile) | |
| 3 | g.122283736C>A | CA354157314 | CASR | c.1551C>A (p.Asn517Lys) c.1812C>A (p.Asn604Lys) c.1782C>A (p.Asn594Lys) c.1299C>A (p.Asn433Lys) c.1194C>A (p.Asn398Lys) | |
| 3 | g.122283736C>G | CA354157317 | CASR | c.1551C>G (p.Asn517Lys) c.1812C>G (p.Asn604Lys) c.1782C>G (p.Asn594Lys) c.1299C>G (p.Asn433Lys) c.1194C>G (p.Asn398Lys) | |
| 3 | g.122283736C>T | CA435251857 | CASR | c.1551C>T (p.Asn517=) c.1812C>T (p.Asn604=) c.1782C>T (p.Asn594=) c.1299C>T (p.Asn433=) c.1194C>T (p.Asn398=) | ClinVar |
| 3 | g.122283737del | CA2499216409 | CASR | c.1552del (p.His518ThrfsTer?) c.1813del (p.His605ThrfsTer?) c.1783del (p.His595ThrfsTer?) c.1300del (p.His434ThrfsTer?) c.1195del (p.His399ThrfsTer?) | ClinVar dbSNP |
| 3 | g.122283737C>A | CA354157320 | CASR | c.1552C>A (p.His518Asn) c.1813C>A (p.His605Asn) c.1783C>A (p.His595Asn) c.1300C>A (p.His434Asn) c.1195C>A (p.His399Asn) | |
| 3 | g.122283737C>G | CA354157322 | CASR | c.1552C>G (p.His518Asp) c.1813C>G (p.His605Asp) c.1783C>G (p.His595Asp) c.1300C>G (p.His434Asp) c.1195C>G (p.His399Asp) | |
| 3 | g.122283737C>T | CA354157324 | CASR | c.1552C>T (p.His518Tyr) c.1813C>T (p.His605Tyr) c.1783C>T (p.His595Tyr) c.1300C>T (p.His434Tyr) c.1195C>T (p.His399Tyr) | |
| 3 | g.122283738A>C | CA354157331 | CASR | c.1553A>C (p.His518Pro) c.1814A>C (p.His605Pro) c.1784A>C (p.His595Pro) c.1301A>C (p.His434Pro) c.1196A>C (p.His399Pro) | |
| 3 | g.122283738A>G | CA354157326 | CASR | c.1553A>G (p.His518Arg) c.1814A>G (p.His605Arg) c.1784A>G (p.His595Arg) c.1301A>G (p.His434Arg) c.1196A>G (p.His399Arg) | |
| 3 | g.122283738A>T | CA354157329 | CASR | c.1553A>T (p.His518Leu) c.1814A>T (p.His605Leu) c.1784A>T (p.His595Leu) c.1301A>T (p.His434Leu) c.1196A>T (p.His399Leu) | |
| 3 | g.122283739C>A | CA354157337 | CASR | c.1554C>A (p.His518Gln) c.1815C>A (p.His605Gln) c.1785C>A (p.His595Gln) c.1302C>A (p.His434Gln) c.1197C>A (p.His399Gln) | dbSNP |
| 3 | g.122283739C= | CA1397870894 | CASR | c.1554C= (p.His518=) c.1815C= (p.His605=) c.1785C= (p.His595=) c.1302C= (p.His434=) c.1197C= (p.His399=) | |
| 3 | g.122283739C>G | CA354157339 | CASR | c.1554C>G (p.His518Gln) c.1815C>G (p.His605Gln) c.1785C>G (p.His595Gln) c.1302C>G (p.His434Gln) c.1197C>G (p.His399Gln) | |
| 3 | g.122283739C>T | CA435251858 | CASR | c.1554C>T (p.His518=) c.1815C>T (p.His605=) c.1785C>T (p.His595=) c.1302C>T (p.His434=) c.1197C>T (p.His399=) | gnomAD v4 |
| 3 | g.122283740A>C | CA354157342 | CASR | c.1555A>C (p.Thr519Pro) c.1816A>C (p.Thr606Pro) c.1786A>C (p.Thr596Pro) c.1303A>C (p.Thr435Pro) c.1198A>C (p.Thr400Pro) | ClinVar |
| 3 | g.122283740A>G | CA354157344 | CASR | c.1555A>G (p.Thr519Ala) c.1816A>G (p.Thr606Ala) c.1786A>G (p.Thr596Ala) c.1303A>G (p.Thr435Ala) c.1198A>G (p.Thr400Ala) | |
| 3 | g.122283740A>T | CA354157345 | CASR | c.1555A>T (p.Thr519Ser) c.1816A>T (p.Thr606Ser) c.1786A>T (p.Thr596Ser) c.1303A>T (p.Thr435Ser) c.1198A>T (p.Thr400Ser) | |
| 3 | g.122283741C>A | CA354157347 | CASR | c.1556C>A (p.Thr519Asn) c.1817C>A (p.Thr606Asn) c.1787C>A (p.Thr596Asn) c.1304C>A (p.Thr435Asn) c.1199C>A (p.Thr400Asn) | |
| 3 | g.122283741C= | CA1397870896 | CASR | c.1556C= (p.Thr519=) c.1817C= (p.Thr606=) c.1787C= (p.Thr596=) c.1304C= (p.Thr435=) c.1199C= (p.Thr400=) | |
| 3 | g.122283741C>G | CA354157348 | CASR | c.1556C>G (p.Thr519Ser) c.1817C>G (p.Thr606Ser) c.1787C>G (p.Thr596Ser) c.1304C>G (p.Thr435Ser) c.1199C>G (p.Thr400Ser) | |
| 3 | g.122283741C>T | CA354157349 | CASR | c.1556C>T (p.Thr519Ile) c.1817C>T (p.Thr606Ile) c.1787C>T (p.Thr596Ile) c.1304C>T (p.Thr435Ile) c.1199C>T (p.Thr400Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283744_122283746del | CA2740094568 | CASR | c.1559_1561del (p.Ser520del) c.1820_1822del (p.Ser607del) c.1790_1792del (p.Ser597del) c.1307_1309del (p.Ser436del) c.1202_1204del (p.Ser401del) | ClinVar |
| 3 | g.122283742C>A | CA435251859 | CASR | c.1557C>A (p.Thr519=) c.1818C>A (p.Thr606=) c.1788C>A (p.Thr596=) c.1305C>A (p.Thr435=) c.1200C>A (p.Thr400=) | ClinVar gnomAD v4 |
| 3 | g.122283742C= | CA1397870900 | CASR | c.1557C= (p.Thr519=) c.1818C= (p.Thr606=) c.1788C= (p.Thr596=) c.1305C= (p.Thr435=) c.1200C= (p.Thr400=) | |
| 3 | g.122283742C>G | CA435251860 | CASR | c.1557C>G (p.Thr519=) c.1818C>G (p.Thr606=) c.1788C>G (p.Thr596=) c.1305C>G (p.Thr435=) c.1200C>G (p.Thr400=) | |
| 3 | g.122283742C>T | CA2569744 | CASR | c.1557C>T (p.Thr519=) c.1818C>T (p.Thr606=) c.1788C>T (p.Thr596=) c.1305C>T (p.Thr435=) c.1200C>T (p.Thr400=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283743T>A | CA354157351 | CASR | c.1558T>A (p.Ser520Thr) c.1819T>A (p.Ser607Thr) c.1789T>A (p.Ser597Thr) c.1306T>A (p.Ser436Thr) c.1201T>A (p.Ser401Thr) | |
| 3 | g.122283743T>C | CA354157352 | CASR | c.1558T>C (p.Ser520Pro) c.1819T>C (p.Ser607Pro) c.1789T>C (p.Ser597Pro) c.1306T>C (p.Ser436Pro) c.1201T>C (p.Ser401Pro) | ClinVar dbSNP |
| 3 | g.122283743T>G | CA354157353 | CASR | c.1558T>G (p.Ser520Ala) c.1819T>G (p.Ser607Ala) c.1789T>G (p.Ser597Ala) c.1306T>G (p.Ser436Ala) c.1201T>G (p.Ser401Ala) | |
| 3 | g.122283743T= | CA1397870909 | CASR | c.1558T= (p.Ser520=) c.1819T= (p.Ser607=) c.1789T= (p.Ser597=) c.1306T= (p.Ser436=) c.1201T= (p.Ser401=) | |
| 3 | g.122283744C>A | CA354157354 | CASR | c.1559C>A (p.Ser520Tyr) c.1820C>A (p.Ser607Tyr) c.1790C>A (p.Ser597Tyr) c.1307C>A (p.Ser436Tyr) c.1202C>A (p.Ser401Tyr) | |
| 3 | g.122283744C>G | CA354157357 | CASR | c.1559C>G (p.Ser520Cys) c.1820C>G (p.Ser607Cys) c.1790C>G (p.Ser597Cys) c.1307C>G (p.Ser436Cys) c.1202C>G (p.Ser401Cys) | |
| 3 | g.122283744C>T | CA354157355 | CASR | c.1559C>T (p.Ser520Phe) c.1820C>T (p.Ser607Phe) c.1790C>T (p.Ser597Phe) c.1307C>T (p.Ser436Phe) c.1202C>T (p.Ser401Phe) | |
| 3 | g.122283745C>A | CA435251861 | CASR | c.1560C>A (p.Ser520=) c.1821C>A (p.Ser607=) c.1791C>A (p.Ser597=) c.1308C>A (p.Ser436=) c.1203C>A (p.Ser401=) | |
| 3 | g.122283745C>G | CA435251862 | CASR | c.1560C>G (p.Ser520=) c.1821C>G (p.Ser607=) c.1791C>G (p.Ser597=) c.1308C>G (p.Ser436=) c.1203C>G (p.Ser401=) | |
| 3 | g.122283745C>T | CA435251863 | CASR | c.1560C>T (p.Ser520=) c.1821C>T (p.Ser607=) c.1791C>T (p.Ser597=) c.1308C>T (p.Ser436=) c.1203C>T (p.Ser401=) | COSMIC |
| 3 | g.122283746T>A | CA354157359 | CASR | c.1561T>A (p.Cys521Ser) c.1822T>A (p.Cys608Ser) c.1792T>A (p.Cys598Ser) c.1309T>A (p.Cys437Ser) c.1204T>A (p.Cys402Ser) | |
| 3 | g.122283746T>C | CA354157360 | CASR | c.1561T>C (p.Cys521Arg) c.1822T>C (p.Cys608Arg) c.1792T>C (p.Cys598Arg) c.1309T>C (p.Cys437Arg) c.1204T>C (p.Cys402Arg) | |
| 3 | g.122283746T>G | CA354157372 | CASR | c.1561T>G (p.Cys521Gly) c.1822T>G (p.Cys608Gly) c.1792T>G (p.Cys598Gly) c.1309T>G (p.Cys437Gly) c.1204T>G (p.Cys402Gly) | |
| 3 | g.122283747G>A | CA354157376 | CASR | c.1562G>A (p.Cys521Tyr) c.1823G>A (p.Cys608Tyr) c.1793G>A (p.Cys598Tyr) c.1310G>A (p.Cys437Tyr) c.1205G>A (p.Cys402Tyr) | ClinVar dbSNP |
| 3 | g.122283747G>C | CA354157377 | CASR | c.1562G>C (p.Cys521Ser) c.1823G>C (p.Cys608Ser) c.1793G>C (p.Cys598Ser) c.1310G>C (p.Cys437Ser) c.1205G>C (p.Cys402Ser) | |
| 3 | g.122283747G>T | CA354157378 | CASR | c.1562G>T (p.Cys521Phe) c.1823G>T (p.Cys608Phe) c.1793G>T (p.Cys598Phe) c.1310G>T (p.Cys437Phe) c.1205G>T (p.Cys402Phe) | |
| 3 | g.122283748C>A | CA354157379 | CASR | c.1563C>A (p.Cys521Ter) c.1824C>A (p.Cys608Ter) c.1794C>A (p.Cys598Ter) c.1311C>A (p.Cys437Ter) c.1206C>A (p.Cys402Ter) | |
| 3 | g.122283748C>G | CA354157380 | CASR | c.1563C>G (p.Cys521Trp) c.1824C>G (p.Cys608Trp) c.1794C>G (p.Cys598Trp) c.1311C>G (p.Cys437Trp) c.1206C>G (p.Cys402Trp) | |
| 3 | g.122283748C>T | CA435251864 | CASR | c.1563C>T (p.Cys521=) c.1824C>T (p.Cys608=) c.1794C>T (p.Cys598=) c.1311C>T (p.Cys437=) c.1206C>T (p.Cys402=) | |
| 3 | g.122283749A>C | CA354157381 | CASR | c.1564A>C (p.Ile522Leu) c.1825A>C (p.Ile609Leu) c.1795A>C (p.Ile599Leu) c.1312A>C (p.Ile438Leu) c.1207A>C (p.Ile403Leu) | |
| 3 | g.122283749A>G | CA354157383 | CASR | c.1564A>G (p.Ile522Val) c.1825A>G (p.Ile609Val) c.1795A>G (p.Ile599Val) c.1312A>G (p.Ile438Val) c.1207A>G (p.Ile403Val) | |
| 3 | g.122283749A>T | CA354157382 | CASR | c.1564A>T (p.Ile522Phe) c.1825A>T (p.Ile609Phe) c.1795A>T (p.Ile599Phe) c.1312A>T (p.Ile438Phe) c.1207A>T (p.Ile403Phe) | |
| 3 | g.122283750T>A | CA354157386 | CASR | c.1565T>A (p.Ile522Asn) c.1826T>A (p.Ile609Asn) c.1796T>A (p.Ile599Asn) c.1313T>A (p.Ile438Asn) c.1208T>A (p.Ile403Asn) | |
| 3 | g.122283750T>C | CA354157387 | CASR | c.1565T>C (p.Ile522Thr) c.1826T>C (p.Ile609Thr) c.1796T>C (p.Ile599Thr) c.1313T>C (p.Ile438Thr) c.1208T>C (p.Ile403Thr) | ClinVar dbSNP |
| 3 | g.122283750T>G | CA354157389 | CASR | c.1565T>G (p.Ile522Ser) c.1826T>G (p.Ile609Ser) c.1796T>G (p.Ile599Ser) c.1313T>G (p.Ile438Ser) c.1208T>G (p.Ile403Ser) | |
| 3 | g.122283751T>A | CA435251865 | CASR | c.1566T>A (p.Ile522=) c.1827T>A (p.Ile609=) c.1797T>A (p.Ile599=) c.1314T>A (p.Ile438=) c.1209T>A (p.Ile403=) | |
| 3 | g.122283751T>C | CA435251866 | CASR | c.1566T>C (p.Ile522=) c.1827T>C (p.Ile609=) c.1797T>C (p.Ile599=) c.1314T>C (p.Ile438=) c.1209T>C (p.Ile403=) | |
| 3 | g.122283751T>G | CA354157391 | CASR | c.1566T>G (p.Ile522Met) c.1827T>G (p.Ile609Met) c.1797T>G (p.Ile599Met) c.1314T>G (p.Ile438Met) c.1209T>G (p.Ile403Met) | |
| 3 | g.122283752G>A | CA354157394 | CASR | c.1567G>A (p.Ala523Thr) c.1828G>A (p.Ala610Thr) c.1798G>A (p.Ala600Thr) c.1315G>A (p.Ala439Thr) c.1210G>A (p.Ala404Thr) | ClinVar |
| 3 | g.122283752G>C | CA354157398 | CASR | c.1567G>C (p.Ala523Pro) c.1828G>C (p.Ala610Pro) c.1798G>C (p.Ala600Pro) c.1315G>C (p.Ala439Pro) c.1210G>C (p.Ala404Pro) | |
| 3 | g.122283752G>T | CA354157396 | CASR | c.1567G>T (p.Ala523Ser) c.1828G>T (p.Ala610Ser) c.1798G>T (p.Ala600Ser) c.1315G>T (p.Ala439Ser) c.1210G>T (p.Ala404Ser) | |
| 3 | g.122283753C>A | CA82748543 | CASR | c.1568C>A (p.Ala523Asp) c.1829C>A (p.Ala610Asp) c.1799C>A (p.Ala600Asp) c.1316C>A (p.Ala439Asp) c.1211C>A (p.Ala404Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283753C= | CA1397870913 | CASR | c.1568C= (p.Ala523=) c.1829C= (p.Ala610=) c.1799C= (p.Ala600=) c.1316C= (p.Ala439=) c.1211C= (p.Ala404=) | |
| 3 | g.122283753C>G | CA354157401 | CASR | c.1568C>G (p.Ala523Gly) c.1829C>G (p.Ala610Gly) c.1799C>G (p.Ala600Gly) c.1316C>G (p.Ala439Gly) c.1211C>G (p.Ala404Gly) | |
| 3 | g.122283753C>T | CA354157402 | CASR | c.1568C>T (p.Ala523Val) c.1829C>T (p.Ala610Val) c.1799C>T (p.Ala600Val) c.1316C>T (p.Ala439Val) c.1211C>T (p.Ala404Val) | |
| 3 | g.122283754C>A | CA435251867 | CASR | c.1569C>A (p.Ala523=) c.1830C>A (p.Ala610=) c.1800C>A (p.Ala600=) c.1317C>A (p.Ala439=) c.1212C>A (p.Ala404=) | |
| 3 | g.122283754C>G | CA435251868 | CASR | c.1569C>G (p.Ala523=) c.1830C>G (p.Ala610=) c.1800C>G (p.Ala600=) c.1317C>G (p.Ala439=) c.1212C>G (p.Ala404=) | ClinVar |
| 3 | g.122283754C>T | CA435251869 | CASR | c.1569C>T (p.Ala523=) c.1830C>T (p.Ala610=) c.1800C>T (p.Ala600=) c.1317C>T (p.Ala439=) c.1212C>T (p.Ala404=) | |
| 3 | g.122283755A>C | CA354157405 | CASR | c.1570A>C (p.Lys524Gln) c.1831A>C (p.Lys611Gln) c.1801A>C (p.Lys601Gln) c.1318A>C (p.Lys440Gln) c.1213A>C (p.Lys405Gln) | |
| 3 | g.122283755A>G | CA354157407 | CASR | c.1570A>G (p.Lys524Glu) c.1831A>G (p.Lys611Glu) c.1801A>G (p.Lys601Glu) c.1318A>G (p.Lys440Glu) c.1213A>G (p.Lys405Glu) | |
| 3 | g.122283755A>T | CA354157409 | CASR | c.1570A>T (p.Lys524Ter) c.1831A>T (p.Lys611Ter) c.1801A>T (p.Lys601Ter) c.1318A>T (p.Lys440Ter) c.1213A>T (p.Lys405Ter) | |
| 3 | g.122283756del | CA2573136448 | CASR | c.1571del (p.Lys524ArgfsTer26) c.1832del (p.Lys611ArgfsTer26) c.1802del (p.Lys601ArgfsTer26) c.1319del (p.Lys440ArgfsTer26) c.1214del (p.Lys405ArgfsTer26) | ClinVar dbSNP |
| 3 | g.122283756A>C | CA354157412 | CASR | c.1571A>C (p.Lys524Thr) c.1832A>C (p.Lys611Thr) c.1802A>C (p.Lys601Thr) c.1319A>C (p.Lys440Thr) c.1214A>C (p.Lys405Thr) | |
| 3 | g.122283756A>G | CA354157413 | CASR | c.1571A>G (p.Lys524Arg) c.1832A>G (p.Lys611Arg) c.1802A>G (p.Lys601Arg) c.1319A>G (p.Lys440Arg) c.1214A>G (p.Lys405Arg) | ClinVar dbSNP |
| 3 | g.122283756A>T | CA354157415 | CASR | c.1571A>T (p.Lys524Met) c.1832A>T (p.Lys611Met) c.1802A>T (p.Lys601Met) c.1319A>T (p.Lys440Met) c.1214A>T (p.Lys405Met) | |
| 3 | g.122283757G>A | CA435251870 | CASR | c.1572G>A (p.Lys524=) c.1833G>A (p.Lys611=) c.1803G>A (p.Lys601=) c.1320G>A (p.Lys440=) c.1215G>A (p.Lys405=) | ClinVar dbSNP COSMIC |
| 3 | g.122283757G>C | CA354157419 | CASR | c.1572G>C (p.Lys524Asn) c.1833G>C (p.Lys611Asn) c.1803G>C (p.Lys601Asn) c.1320G>C (p.Lys440Asn) c.1215G>C (p.Lys405Asn) | ClinVar |
| 3 | g.122283757G= | CA1397870915 | CASR | c.1572G= (p.Lys524=) c.1833G= (p.Lys611=) c.1803G= (p.Lys601=) c.1320G= (p.Lys440=) c.1215G= (p.Lys405=) | |
| 3 | g.122283757G>T | CA354157420 | CASR | c.1572G>T (p.Lys524Asn) c.1833G>T (p.Lys611Asn) c.1803G>T (p.Lys601Asn) c.1320G>T (p.Lys440Asn) c.1215G>T (p.Lys405Asn) | |
| 3 | g.122283758G>A | CA354157423 | CASR | c.1573G>A (p.Glu525Lys) c.1834G>A (p.Glu612Lys) c.1804G>A (p.Glu602Lys) c.1321G>A (p.Glu441Lys) c.1216G>A (p.Glu406Lys) | |
| 3 | g.122283758G>C | CA354157427 | CASR | c.1573G>C (p.Glu525Gln) c.1834G>C (p.Glu612Gln) c.1804G>C (p.Glu602Gln) c.1321G>C (p.Glu441Gln) c.1216G>C (p.Glu406Gln) | |
| 3 | g.122283758G>T | CA354157425 | CASR | c.1573G>T (p.Glu525Ter) c.1834G>T (p.Glu612Ter) c.1804G>T (p.Glu602Ter) c.1321G>T (p.Glu441Ter) c.1216G>T (p.Glu406Ter) | |
| 3 | g.122283759A>C | CA354157429 | CASR | c.1574A>C (p.Glu525Ala) c.1835A>C (p.Glu612Ala) c.1805A>C (p.Glu602Ala) c.1322A>C (p.Glu441Ala) c.1217A>C (p.Glu406Ala) | |
| 3 | g.122283759A>G | CA354157431 | CASR | c.1574A>G (p.Glu525Gly) c.1835A>G (p.Glu612Gly) c.1805A>G (p.Glu602Gly) c.1322A>G (p.Glu441Gly) c.1217A>G (p.Glu406Gly) | |
| 3 | g.122283759A>T | CA354157434 | CASR | c.1574A>T (p.Glu525Val) c.1835A>T (p.Glu612Val) c.1805A>T (p.Glu602Val) c.1322A>T (p.Glu441Val) c.1217A>T (p.Glu406Val) | |
| 3 | g.122283760G>A | CA2569745 | CASR | c.1575G>A (p.Glu525=) c.1836G>A (p.Glu612=) c.1806G>A (p.Glu602=) c.1323G>A (p.Glu441=) c.1218G>A (p.Glu406=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283760G>C | CA354157436 | CASR | c.1575G>C (p.Glu525Asp) c.1836G>C (p.Glu612Asp) c.1806G>C (p.Glu602Asp) c.1323G>C (p.Glu441Asp) c.1218G>C (p.Glu406Asp) | COSMIC |
| 3 | g.122283760G= | CA1397870920 | CASR | c.1575G= (p.Glu525=) c.1836G= (p.Glu612=) c.1806G= (p.Glu602=) c.1323G= (p.Glu441=) c.1218G= (p.Glu406=) | |
| 3 | g.122283760G>T | CA354157437 | CASR | c.1575G>T (p.Glu525Asp) c.1836G>T (p.Glu612Asp) c.1806G>T (p.Glu602Asp) c.1323G>T (p.Glu441Asp) c.1218G>T (p.Glu406Asp) | |
| 3 | g.122283761A= | CA1397870933 | CASR | c.1576A= (p.Ile526=) c.1837A= (p.Ile613=) c.1807A= (p.Ile603=) c.1324A= (p.Ile442=) c.1219A= (p.Ile407=) | |
| 3 | g.122283761A>C | CA354157438 | CASR | c.1576A>C (p.Ile526Leu) c.1837A>C (p.Ile613Leu) c.1807A>C (p.Ile603Leu) c.1324A>C (p.Ile442Leu) c.1219A>C (p.Ile407Leu) | |
| 3 | g.122283761A>G | CA354157439 | CASR | c.1576A>G (p.Ile526Val) c.1837A>G (p.Ile613Val) c.1807A>G (p.Ile603Val) c.1324A>G (p.Ile442Val) c.1219A>G (p.Ile407Val) | |
| 3 | g.122283761A>T | CA354157440 | CASR | c.1576A>T (p.Ile526Phe) c.1837A>T (p.Ile613Phe) c.1807A>T (p.Ile603Phe) c.1324A>T (p.Ile442Phe) c.1219A>T (p.Ile407Phe) | dbSNP |
| 3 | g.122283762T>A | CA354157441 | CASR | c.1577T>A (p.Ile526Asn) c.1838T>A (p.Ile613Asn) c.1808T>A (p.Ile603Asn) c.1325T>A (p.Ile442Asn) c.1220T>A (p.Ile407Asn) | ClinVar |
| 3 | g.122283762T>C | CA354157442 | CASR | c.1577T>C (p.Ile526Thr) c.1838T>C (p.Ile613Thr) c.1808T>C (p.Ile603Thr) c.1325T>C (p.Ile442Thr) c.1220T>C (p.Ile407Thr) | COSMIC |
| 3 | g.122283762T>G | CA354157444 | CASR | c.1577T>G (p.Ile526Ser) c.1838T>G (p.Ile613Ser) c.1808T>G (p.Ile603Ser) c.1325T>G (p.Ile442Ser) c.1220T>G (p.Ile407Ser) | |
| 3 | g.122283763C>A | CA435251871 | CASR | c.1578C>A (p.Ile526=) c.1839C>A (p.Ile613=) c.1809C>A (p.Ile603=) c.1326C>A (p.Ile442=) c.1221C>A (p.Ile407=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283763C= | CA1397870937 | CASR | c.1578C= (p.Ile526=) c.1839C= (p.Ile613=) c.1809C= (p.Ile603=) c.1326C= (p.Ile442=) c.1221C= (p.Ile407=) | |
| 3 | g.122283763C>G | CA354157446 | CASR | c.1578C>G (p.Ile526Met) c.1839C>G (p.Ile613Met) c.1809C>G (p.Ile603Met) c.1326C>G (p.Ile442Met) c.1221C>G (p.Ile407Met) | |
| 3 | g.122283763C>T | CA435251872 | CASR | c.1578C>T (p.Ile526=) c.1839C>T (p.Ile613=) c.1809C>T (p.Ile603=) c.1326C>T (p.Ile442=) c.1221C>T (p.Ile407=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122283764G>A | CA119533 | CASR | c.1579G>A (p.Glu527Lys) c.1840G>A (p.Glu614Lys) c.1810G>A (p.Glu604Lys) c.1327G>A (p.Glu443Lys) c.1222G>A (p.Glu408Lys) | ClinVar dbSNP COSMIC |
| 3 | g.122283764G>C | CA354157451 | CASR | c.1579G>C (p.Glu527Gln) c.1840G>C (p.Glu614Gln) c.1810G>C (p.Glu604Gln) c.1327G>C (p.Glu443Gln) c.1222G>C (p.Glu408Gln) | |
| 3 | g.122283764G= | CA1397870943 | CASR | c.1579G= (p.Glu527=) c.1840G= (p.Glu614=) c.1810G= (p.Glu604=) c.1327G= (p.Glu443=) c.1222G= (p.Glu408=) | |
| 3 | g.122283764G>T | CA354157449 | CASR | c.1579G>T (p.Glu527Ter) c.1840G>T (p.Glu614Ter) c.1810G>T (p.Glu604Ter) c.1327G>T (p.Glu443Ter) c.1222G>T (p.Glu408Ter) | |
| 3 | g.122283765A>C | CA354157452 | CASR | c.1580A>C (p.Glu527Ala) c.1841A>C (p.Glu614Ala) c.1811A>C (p.Glu604Ala) c.1328A>C (p.Glu443Ala) c.1223A>C (p.Glu408Ala) | |
| 3 | g.122283765A>G | CA354157454 | CASR | c.1580A>G (p.Glu527Gly) c.1841A>G (p.Glu614Gly) c.1811A>G (p.Glu604Gly) c.1328A>G (p.Glu443Gly) c.1223A>G (p.Glu408Gly) | |
| 3 | g.122283765A>T | CA354157456 | CASR | c.1580A>T (p.Glu527Val) c.1841A>T (p.Glu614Val) c.1811A>T (p.Glu604Val) c.1328A>T (p.Glu443Val) c.1223A>T (p.Glu408Val) | |
| 3 | g.122283766G>A | CA435251873 | CASR | c.1581G>A (p.Glu527=) c.1842G>A (p.Glu614=) c.1812G>A (p.Glu604=) c.1329G>A (p.Glu443=) c.1224G>A (p.Glu408=) | |
| 3 | g.122283766G>C | CA2569746 | CASR | c.1581G>C (p.Glu527Asp) c.1842G>C (p.Glu614Asp) c.1812G>C (p.Glu604Asp) c.1329G>C (p.Glu443Asp) c.1224G>C (p.Glu408Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283766G= | CA1397870950 | CASR | c.1581G= (p.Glu527=) c.1842G= (p.Glu614=) c.1812G= (p.Glu604=) c.1329G= (p.Glu443=) c.1224G= (p.Glu408=) | |
| 3 | g.122283766G>T | CA354157458 | CASR | c.1581G>T (p.Glu527Asp) c.1842G>T (p.Glu614Asp) c.1812G>T (p.Glu604Asp) c.1329G>T (p.Glu443Asp) c.1224G>T (p.Glu408Asp) | |
| 3 | g.122283767T>A | CA354157461 | CASR | c.1582T>A (p.Phe528Ile) c.1843T>A (p.Phe615Ile) c.1813T>A (p.Phe605Ile) c.1330T>A (p.Phe444Ile) c.1225T>A (p.Phe409Ile) | |
| 3 | g.122283767T>C | CA354157463 | CASR | c.1582T>C (p.Phe528Leu) c.1843T>C (p.Phe615Leu) c.1813T>C (p.Phe605Leu) c.1330T>C (p.Phe444Leu) c.1225T>C (p.Phe409Leu) | |
| 3 | g.122283767T>G | CA354157464 | CASR | c.1582T>G (p.Phe528Val) c.1843T>G (p.Phe615Val) c.1813T>G (p.Phe605Val) c.1330T>G (p.Phe444Val) c.1225T>G (p.Phe409Val) | |
| 3 | g.122283769del | CA2667223953 | CASR | c.1584del (p.Leu529CysfsTer21) c.1845del (p.Leu616CysfsTer21) c.1815del (p.Leu606CysfsTer21) c.1332del (p.Leu445CysfsTer21) c.1227del (p.Leu410CysfsTer21) | gnomAD v4 |
| 3 | g.122283768T>A | CA354157465 | CASR | c.1583T>A (p.Phe528Tyr) c.1844T>A (p.Phe615Tyr) c.1814T>A (p.Phe605Tyr) c.1331T>A (p.Phe444Tyr) c.1226T>A (p.Phe409Tyr) | |
| 3 | g.122283768T>C | CA354157466 | CASR | c.1583T>C (p.Phe528Ser) c.1844T>C (p.Phe615Ser) c.1814T>C (p.Phe605Ser) c.1331T>C (p.Phe444Ser) c.1226T>C (p.Phe409Ser) | |
| 3 | g.122283768T>G | CA354157468 | CASR | c.1583T>G (p.Phe528Cys) c.1844T>G (p.Phe615Cys) c.1814T>G (p.Phe605Cys) c.1331T>G (p.Phe444Cys) c.1226T>G (p.Phe409Cys) | |
| 3 | g.122283769T>A | CA354157470 | CASR | c.1584T>A (p.Phe528Leu) c.1845T>A (p.Phe615Leu) c.1815T>A (p.Phe605Leu) c.1332T>A (p.Phe444Leu) c.1227T>A (p.Phe409Leu) | |
| 3 | g.122283769T>C | CA435251874 | CASR | c.1584T>C (p.Phe528=) c.1845T>C (p.Phe615=) c.1815T>C (p.Phe605=) c.1332T>C (p.Phe444=) c.1227T>C (p.Phe409=) | |
| 3 | g.122283769T>G | CA354157472 | CASR | c.1584T>G (p.Phe528Leu) c.1845T>G (p.Phe615Leu) c.1815T>G (p.Phe605Leu) c.1332T>G (p.Phe444Leu) c.1227T>G (p.Phe409Leu) | |
| 3 | g.122283770C>A | CA354157473 | CASR | c.1585C>A (p.Leu529Met) c.1846C>A (p.Leu616Met) c.1816C>A (p.Leu606Met) c.1333C>A (p.Leu445Met) c.1228C>A (p.Leu410Met) | |
| 3 | g.122283770C>G | CA354157475 | CASR | c.1585C>G (p.Leu529Val) c.1846C>G (p.Leu616Val) c.1816C>G (p.Leu606Val) c.1333C>G (p.Leu445Val) c.1228C>G (p.Leu410Val) | |
| 3 | g.122283770C>T | CA435251875 | CASR | c.1585C>T (p.Leu529=) c.1846C>T (p.Leu616=) c.1816C>T (p.Leu606=) c.1333C>T (p.Leu445=) c.1228C>T (p.Leu410=) | |
| 3 | g.122283771T>A | CA354157477 | CASR | c.1586T>A (p.Leu529Gln) c.1847T>A (p.Leu616Gln) c.1817T>A (p.Leu606Gln) c.1334T>A (p.Leu445Gln) c.1229T>A (p.Leu410Gln) | |
| 3 | g.122283771T>C | CA354157480 | CASR | c.1586T>C (p.Leu529Pro) c.1847T>C (p.Leu616Pro) c.1817T>C (p.Leu606Pro) c.1334T>C (p.Leu445Pro) c.1229T>C (p.Leu410Pro) | ClinVar dbSNP |
| 3 | g.122283771T>G | CA354157478 | CASR | c.1586T>G (p.Leu529Arg) c.1847T>G (p.Leu616Arg) c.1817T>G (p.Leu606Arg) c.1334T>G (p.Leu445Arg) c.1229T>G (p.Leu410Arg) | |
| 3 | g.122283772G>A | CA435251876 | CASR | c.1587G>A (p.Leu529=) c.1848G>A (p.Leu616=) c.1818G>A (p.Leu606=) c.1335G>A (p.Leu445=) c.1230G>A (p.Leu410=) | ClinVar |
| 3 | g.122283772G>C | CA435251877 | CASR | c.1587G>C (p.Leu529=) c.1848G>C (p.Leu616=) c.1818G>C (p.Leu606=) c.1335G>C (p.Leu445=) c.1230G>C (p.Leu410=) | |
| 3 | g.122283772G>T | CA435251878 | CASR | c.1587G>T (p.Leu529=) c.1848G>T (p.Leu616=) c.1818G>T (p.Leu606=) c.1335G>T (p.Leu445=) c.1230G>T (p.Leu410=) | |
| 3 | g.122283773T>A | CA354157481 | CASR | c.1588T>A (p.Ser530Thr) c.1849T>A (p.Ser617Thr) c.1819T>A (p.Ser607Thr) c.1336T>A (p.Ser446Thr) c.1231T>A (p.Ser411Thr) | |
| 3 | g.122283773T>C | CA354157482 | CASR | c.1588T>C (p.Ser530Pro) c.1849T>C (p.Ser617Pro) c.1819T>C (p.Ser607Pro) c.1336T>C (p.Ser446Pro) c.1231T>C (p.Ser411Pro) | gnomAD v4 |
| 3 | g.122283773T>G | CA354157483 | CASR | c.1588T>G (p.Ser530Ala) c.1849T>G (p.Ser617Ala) c.1819T>G (p.Ser607Ala) c.1336T>G (p.Ser446Ala) c.1231T>G (p.Ser411Ala) | |
| 3 | g.122283773_122283774insGAA | CA2667223961 | CASR | c.1588_1589insGAA (p.Ser530Ter) c.1849_1850insGAA (p.Ser617Ter) c.1819_1820insGAA (p.Ser607Ter) c.1336_1337insGAA (p.Ser446Ter) c.1231_1232insGAA (p.Ser411Ter) | gnomAD v4 |
| 3 | g.122283774C>A | CA354157486 | CASR | c.1589C>A (p.Ser530Ter) c.1850C>A (p.Ser617Ter) c.1820C>A (p.Ser607Ter) c.1337C>A (p.Ser446Ter) c.1232C>A (p.Ser411Ter) | ClinVar gnomAD v4 |
| 3 | g.122283774C= | CA1397870958 | CASR | c.1589C= (p.Ser530=) c.1850C= (p.Ser617=) c.1820C= (p.Ser607=) c.1337C= (p.Ser446=) c.1232C= (p.Ser411=) | |
| 3 | g.122283774C>G | CA354157488 | CASR | c.1589C>G (p.Ser530Trp) c.1850C>G (p.Ser617Trp) c.1820C>G (p.Ser607Trp) c.1337C>G (p.Ser446Trp) c.1232C>G (p.Ser411Trp) | |
| 3 | g.122283774C>T | CA82748557 | CASR | c.1589C>T (p.Ser530Leu) c.1850C>T (p.Ser617Leu) c.1820C>T (p.Ser607Leu) c.1337C>T (p.Ser446Leu) c.1232C>T (p.Ser411Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283775G>A | CA2569747 | CASR | c.1590G>A (p.Ser530=) c.1851G>A (p.Ser617=) c.1821G>A (p.Ser607=) c.1338G>A (p.Ser446=) c.1233G>A (p.Ser411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283775G>C | CA435251880 | CASR | c.1590G>C (p.Ser530=) c.1851G>C (p.Ser617=) c.1821G>C (p.Ser607=) c.1338G>C (p.Ser446=) c.1233G>C (p.Ser411=) | dbSNP |
| 3 | g.122283775G= | CA1397870964 | CASR | c.1590G= (p.Ser530=) c.1851G= (p.Ser617=) c.1821G= (p.Ser607=) c.1338G= (p.Ser446=) c.1233G= (p.Ser411=) | |
| 3 | g.122283775G>T | CA435251881 | CASR | c.1590G>T (p.Ser530=) c.1851G>T (p.Ser617=) c.1821G>T (p.Ser607=) c.1338G>T (p.Ser446=) c.1233G>T (p.Ser411=) | |
| 3 | g.122283776T>A | CA354157490 | CASR | c.1591T>A (p.Trp531Arg) c.1852T>A (p.Trp618Arg) c.1822T>A (p.Trp608Arg) c.1339T>A (p.Trp447Arg) c.1234T>A (p.Trp412Arg) | |
| 3 | g.122283776T>C | CA354157491 | CASR | c.1591T>C (p.Trp531Arg) c.1852T>C (p.Trp618Arg) c.1822T>C (p.Trp608Arg) c.1339T>C (p.Trp447Arg) c.1234T>C (p.Trp412Arg) | ClinVar dbSNP |
| 3 | g.122283776T>G | CA354157494 | CASR | c.1591T>G (p.Trp531Gly) c.1852T>G (p.Trp618Gly) c.1822T>G (p.Trp608Gly) c.1339T>G (p.Trp447Gly) c.1234T>G (p.Trp412Gly) | |
| 3 | g.122283777G>A | CA82748562 | CASR | c.1592G>A (p.Trp531Ter) c.1853G>A (p.Trp618Ter) c.1823G>A (p.Trp608Ter) c.1340G>A (p.Trp447Ter) c.1235G>A (p.Trp412Ter) | dbSNP |
| 3 | g.122283777G>C | CA354157496 | CASR | c.1592G>C (p.Trp531Ser) c.1853G>C (p.Trp618Ser) c.1823G>C (p.Trp608Ser) c.1340G>C (p.Trp447Ser) c.1235G>C (p.Trp412Ser) | |
| 3 | g.122283777G= | CA1397870973 | CASR | c.1592G= (p.Trp531=) c.1853G= (p.Trp618=) c.1823G= (p.Trp608=) c.1340G= (p.Trp447=) c.1235G= (p.Trp412=) | |
| 3 | g.122283777G>T | CA354157497 | CASR | c.1592G>T (p.Trp531Leu) c.1853G>T (p.Trp618Leu) c.1823G>T (p.Trp608Leu) c.1340G>T (p.Trp447Leu) c.1235G>T (p.Trp412Leu) | |
| 3 | g.122283778G>A | CA354157499 | CASR | c.1593G>A (p.Trp531Ter) c.1854G>A (p.Trp618Ter) c.1824G>A (p.Trp608Ter) c.1341G>A (p.Trp447Ter) c.1236G>A (p.Trp412Ter) | |
| 3 | g.122283778G>C | CA354157501 | CASR | c.1593G>C (p.Trp531Cys) c.1854G>C (p.Trp618Cys) c.1824G>C (p.Trp608Cys) c.1341G>C (p.Trp447Cys) c.1236G>C (p.Trp412Cys) | ClinVar |
| 3 | g.122283778G>T | CA354157500 | CASR | c.1593G>T (p.Trp531Cys) c.1854G>T (p.Trp618Cys) c.1824G>T (p.Trp608Cys) c.1341G>T (p.Trp447Cys) c.1236G>T (p.Trp412Cys) | |
| 3 | g.122283779A= | CA1397870976 | CASR | c.1594A= (p.Thr532=) c.1855A= (p.Thr619=) c.1825A= (p.Thr609=) c.1342A= (p.Thr448=) c.1237A= (p.Thr413=) | |
| 3 | g.122283779A>C | CA354157505 | CASR | c.1594A>C (p.Thr532Pro) c.1855A>C (p.Thr619Pro) c.1825A>C (p.Thr609Pro) c.1342A>C (p.Thr448Pro) c.1237A>C (p.Thr413Pro) | |
| 3 | g.122283779A>G | CA2569748 | CASR | c.1594A>G (p.Thr532Ala) c.1855A>G (p.Thr619Ala) c.1825A>G (p.Thr609Ala) c.1342A>G (p.Thr448Ala) c.1237A>G (p.Thr413Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122283779A>T | CA354157507 | CASR | c.1594A>T (p.Thr532Ser) c.1855A>T (p.Thr619Ser) c.1825A>T (p.Thr609Ser) c.1342A>T (p.Thr448Ser) c.1237A>T (p.Thr413Ser) | |
| 3 | g.122283780C>A | CA354157509 | CASR | c.1595C>A (p.Thr532Lys) c.1856C>A (p.Thr619Lys) c.1826C>A (p.Thr609Lys) c.1343C>A (p.Thr448Lys) c.1238C>A (p.Thr413Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283780C= | CA1397870991 | CASR | c.1595C= (p.Thr532=) c.1856C= (p.Thr619=) c.1826C= (p.Thr609=) c.1343C= (p.Thr448=) c.1238C= (p.Thr413=) | |
| 3 | g.122283780C>G | CA354157510 | CASR | c.1595C>G (p.Thr532Arg) c.1856C>G (p.Thr619Arg) c.1826C>G (p.Thr609Arg) c.1343C>G (p.Thr448Arg) c.1238C>G (p.Thr413Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283780C>T | CA2569749 | CASR | c.1595C>T (p.Thr532Met) c.1856C>T (p.Thr619Met) c.1826C>T (p.Thr609Met) c.1343C>T (p.Thr448Met) c.1238C>T (p.Thr413Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283781G>A | CA2569750 | CASR | c.1596G>A (p.Thr532=) c.1857G>A (p.Thr619=) c.1827G>A (p.Thr609=) c.1344G>A (p.Thr448=) c.1239G>A (p.Thr413=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122283781G>C | CA435251882 | CASR | c.1596G>C (p.Thr532=) c.1857G>C (p.Thr619=) c.1827G>C (p.Thr609=) c.1344G>C (p.Thr448=) c.1239G>C (p.Thr413=) | |
| 3 | g.122283781G= | CA1397870994 | CASR | c.1596G= (p.Thr532=) c.1857G= (p.Thr619=) c.1827G= (p.Thr609=) c.1344G= (p.Thr448=) c.1239G= (p.Thr413=) | |
| 3 | g.122283781G>T | CA435251883 | CASR | c.1596G>T (p.Thr532=) c.1857G>T (p.Thr619=) c.1827G>T (p.Thr609=) c.1344G>T (p.Thr448=) c.1239G>T (p.Thr413=) | gnomAD v4 |
| 3 | g.122283782G>A | CA354157517 | CASR | c.1597G>A (p.Glu533Lys) c.1858G>A (p.Glu620Lys) c.1828G>A (p.Glu610Lys) c.1345G>A (p.Glu449Lys) c.1240G>A (p.Glu414Lys) | COSMIC |
| 3 | g.122283782G>C | CA354157519 | CASR | c.1597G>C (p.Glu533Gln) c.1858G>C (p.Glu620Gln) c.1828G>C (p.Glu610Gln) c.1345G>C (p.Glu449Gln) c.1240G>C (p.Glu414Gln) | |
| 3 | g.122283782G= | CA1397871002 | CASR | c.1597G= (p.Glu533=) c.1858G= (p.Glu620=) c.1828G= (p.Glu610=) c.1345G= (p.Glu449=) c.1240G= (p.Glu414=) | |
| 3 | g.122283782G>T | CA16604428 | CASR | c.1597G>T (p.Glu533Ter) c.1858G>T (p.Glu620Ter) c.1828G>T (p.Glu610Ter) c.1345G>T (p.Glu449Ter) c.1240G>T (p.Glu414Ter) | ClinVar dbSNP |
| 3 | g.122283783A>C | CA354157527 | CASR | c.1598A>C (p.Glu533Ala) c.1859A>C (p.Glu620Ala) c.1829A>C (p.Glu610Ala) c.1346A>C (p.Glu449Ala) c.1241A>C (p.Glu414Ala) | ClinVar |
| 3 | g.122283783A>G | CA354157525 | CASR | c.1598A>G (p.Glu533Gly) c.1859A>G (p.Glu620Gly) c.1829A>G (p.Glu610Gly) c.1346A>G (p.Glu449Gly) c.1241A>G (p.Glu414Gly) | |
| 3 | g.122283783A>T | CA354157523 | CASR | c.1598A>T (p.Glu533Val) c.1859A>T (p.Glu620Val) c.1829A>T (p.Glu610Val) c.1346A>T (p.Glu449Val) c.1241A>T (p.Glu414Val) | |
| 3 | g.122283784G>A | CA435251884 | CASR | c.1599G>A (p.Glu533=) c.1860G>A (p.Glu620=) c.1830G>A (p.Glu610=) c.1347G>A (p.Glu449=) c.1242G>A (p.Glu414=) | COSMIC |
| 3 | g.122283784G>C | CA354157530 | CASR | c.1599G>C (p.Glu533Asp) c.1860G>C (p.Glu620Asp) c.1830G>C (p.Glu610Asp) c.1347G>C (p.Glu449Asp) c.1242G>C (p.Glu414Asp) | |
| 3 | g.122283784G>T | CA354157532 | CASR | c.1599G>T (p.Glu533Asp) c.1860G>T (p.Glu620Asp) c.1830G>T (p.Glu610Asp) c.1347G>T (p.Glu449Asp) c.1242G>T (p.Glu414Asp) | |
| 3 | g.122283785C>A | CA354157534 | CASR | c.1600C>A (p.Pro534Thr) c.1861C>A (p.Pro621Thr) c.1831C>A (p.Pro611Thr) c.1348C>A (p.Pro450Thr) c.1243C>A (p.Pro415Thr) | |
| 3 | g.122283785C>G | CA354157535 | CASR | c.1600C>G (p.Pro534Ala) c.1861C>G (p.Pro621Ala) c.1831C>G (p.Pro611Ala) c.1348C>G (p.Pro450Ala) c.1243C>G (p.Pro415Ala) | |
| 3 | g.122283785C>T | CA354157537 | CASR | c.1600C>T (p.Pro534Ser) c.1861C>T (p.Pro621Ser) c.1831C>T (p.Pro611Ser) c.1348C>T (p.Pro450Ser) c.1243C>T (p.Pro415Ser) | ClinVar gnomAD v4 |
| 3 | g.122283786C>A | CA354157539 | CASR | c.1601C>A (p.Pro534His) c.1862C>A (p.Pro621His) c.1832C>A (p.Pro611His) c.1349C>A (p.Pro450His) c.1244C>A (p.Pro415His) | |
| 3 | g.122283786C= | CA1397871008 | CASR | c.1601C= (p.Pro534=) c.1862C= (p.Pro621=) c.1832C= (p.Pro611=) c.1349C= (p.Pro450=) c.1244C= (p.Pro415=) | |
| 3 | g.122283786C>G | CA354157540 | CASR | c.1601C>G (p.Pro534Arg) c.1862C>G (p.Pro621Arg) c.1832C>G (p.Pro611Arg) c.1349C>G (p.Pro450Arg) c.1244C>G (p.Pro415Arg) | |
| 3 | g.122283786C>T | CA82748568 | CASR | c.1601C>T (p.Pro534Leu) c.1862C>T (p.Pro621Leu) c.1832C>T (p.Pro611Leu) c.1349C>T (p.Pro450Leu) c.1244C>T (p.Pro415Leu) | dbSNP |
| 3 | g.122283787C>A | CA435251885 | CASR | c.1602C>A (p.Pro534=) c.1863C>A (p.Pro621=) c.1833C>A (p.Pro611=) c.1350C>A (p.Pro450=) c.1245C>A (p.Pro415=) | |
| 3 | g.122283787C>G | CA435251886 | CASR | c.1602C>G (p.Pro534=) c.1863C>G (p.Pro621=) c.1833C>G (p.Pro611=) c.1350C>G (p.Pro450=) c.1245C>G (p.Pro415=) | |
| 3 | g.122283787C>T | CA435251887 | CASR | c.1602C>T (p.Pro534=) c.1863C>T (p.Pro621=) c.1833C>T (p.Pro611=) c.1350C>T (p.Pro450=) c.1245C>T (p.Pro415=) | |
| 3 | g.122283788T>A | CA354157541 | CASR | c.1603T>A (p.Phe535Ile) c.1864T>A (p.Phe622Ile) c.1834T>A (p.Phe612Ile) c.1351T>A (p.Phe451Ile) c.1246T>A (p.Phe416Ile) | |
| 3 | g.122283788T>C | CA354157542 | CASR | c.1603T>C (p.Phe535Leu) c.1864T>C (p.Phe622Leu) c.1834T>C (p.Phe612Leu) c.1351T>C (p.Phe451Leu) c.1246T>C (p.Phe416Leu) | gnomAD v4 |
| 3 | g.122283788T>G | CA354157543 | CASR | c.1603T>G (p.Phe535Val) c.1864T>G (p.Phe622Val) c.1834T>G (p.Phe612Val) c.1351T>G (p.Phe451Val) c.1246T>G (p.Phe416Val) | |
| 3 | g.122283790del | CA2586972857 | CASR | c.1605del (p.Phe535LeufsTer15) c.1866del (p.Phe622LeufsTer15) c.1836del (p.Phe612LeufsTer15) c.1353del (p.Phe451LeufsTer15) c.1248del (p.Phe416LeufsTer15) | |
| 3 | g.122283789T>A | CA354157544 | CASR | c.1604T>A (p.Phe535Tyr) c.1865T>A (p.Phe622Tyr) c.1835T>A (p.Phe612Tyr) c.1352T>A (p.Phe451Tyr) c.1247T>A (p.Phe416Tyr) | |
| 3 | g.122283789T>C | CA119493 | CASR | c.1604T>C (p.Phe535Ser) c.1865T>C (p.Phe622Ser) c.1835T>C (p.Phe612Ser) c.1352T>C (p.Phe451Ser) c.1247T>C (p.Phe416Ser) | ClinVar dbSNP |
| 3 | g.122283789T>G | CA354157550 | CASR | c.1604T>G (p.Phe535Cys) c.1865T>G (p.Phe622Cys) c.1835T>G (p.Phe612Cys) c.1352T>G (p.Phe451Cys) c.1247T>G (p.Phe416Cys) | |
| 3 | g.122283789T= | CA1397871010 | CASR | c.1604T= (p.Phe535=) c.1865T= (p.Phe622=) c.1835T= (p.Phe612=) c.1352T= (p.Phe451=) c.1247T= (p.Phe416=) | |
| 3 | g.122283790T>A | CA354157552 | CASR | c.1605T>A (p.Phe535Leu) c.1866T>A (p.Phe622Leu) c.1836T>A (p.Phe612Leu) c.1353T>A (p.Phe451Leu) c.1248T>A (p.Phe416Leu) | |
| 3 | g.122283790T>C | CA435251888 | CASR | c.1605T>C (p.Phe535=) c.1866T>C (p.Phe622=) c.1836T>C (p.Phe612=) c.1353T>C (p.Phe451=) c.1248T>C (p.Phe416=) | dbSNP |
| 3 | g.122283790T>G | CA354157554 | CASR | c.1605T>G (p.Phe535Leu) c.1866T>G (p.Phe622Leu) c.1836T>G (p.Phe612Leu) c.1353T>G (p.Phe451Leu) c.1248T>G (p.Phe416Leu) | |
| 3 | g.122283790T= | CA1397871014 | CASR | c.1605T= (p.Phe535=) c.1866T= (p.Phe622=) c.1836T= (p.Phe612=) c.1353T= (p.Phe451=) c.1248T= (p.Phe416=) | |
| 3 | g.122283791G>A | CA354157556 | CASR | c.1606G>A (p.Gly536Arg) c.1867G>A (p.Gly623Arg) c.1837G>A (p.Gly613Arg) c.1354G>A (p.Gly452Arg) c.1249G>A (p.Gly417Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122283791G>C | CA16611196 | CASR | c.1606G>C (p.Gly536Arg) c.1867G>C (p.Gly623Arg) c.1837G>C (p.Gly613Arg) c.1354G>C (p.Gly452Arg) c.1249G>C (p.Gly417Arg) | ClinVar dbSNP |
| 3 | g.122283791G= | CA1397871022 | CASR | c.1606G= (p.Gly536=) c.1867G= (p.Gly623=) c.1837G= (p.Gly613=) c.1354G= (p.Gly452=) c.1249G= (p.Gly417=) | |
| 3 | g.122283791G>T | CA354157557 | CASR | c.1606G>T (p.Gly536Trp) c.1867G>T (p.Gly623Trp) c.1837G>T (p.Gly613Trp) c.1354G>T (p.Gly452Trp) c.1249G>T (p.Gly417Trp) | |
| 3 | g.122283792G>A | CA354157559 | CASR | c.1607G>A (p.Gly536Glu) c.1868G>A (p.Gly623Glu) c.1838G>A (p.Gly613Glu) c.1355G>A (p.Gly452Glu) c.1250G>A (p.Gly417Glu) | ClinVar gnomAD v4 |
| 3 | g.122283792G>C | CA354157561 | CASR | c.1607G>C (p.Gly536Ala) c.1868G>C (p.Gly623Ala) c.1838G>C (p.Gly613Ala) c.1355G>C (p.Gly452Ala) c.1250G>C (p.Gly417Ala) | |
| 3 | g.122283792G>T | CA354157562 | CASR | c.1607G>T (p.Gly536Val) c.1868G>T (p.Gly623Val) c.1838G>T (p.Gly613Val) c.1355G>T (p.Gly452Val) c.1250G>T (p.Gly417Val) | |
| 3 | g.122283792_122283793delinsAA | CA645526043 | CASR | c.1607_1608delinsAA (p.Gly536Glu) c.1868_1869delinsAA (p.Gly623Glu) c.1838_1839delinsAA (p.Gly613Glu) c.1355_1356delinsAA (p.Gly452Glu) c.1250_1251delinsAA (p.Gly417Glu) | COSMIC |
| 3 | g.122283793G>A | CA435251891 | CASR | c.1608G>A (p.Gly536=) c.1869G>A (p.Gly623=) c.1839G>A (p.Gly613=) c.1356G>A (p.Gly452=) c.1251G>A (p.Gly417=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122283793G>C | CA435251890 | CASR | c.1608G>C (p.Gly536=) c.1869G>C (p.Gly623=) c.1839G>C (p.Gly613=) c.1356G>C (p.Gly452=) c.1251G>C (p.Gly417=) | |
| 3 | g.122283793G= | CA1397871024 | CASR | c.1608G= (p.Gly536=) c.1869G= (p.Gly623=) c.1839G= (p.Gly613=) c.1356G= (p.Gly452=) c.1251G= (p.Gly417=) | |
| 3 | g.122283793G>T | CA435251889 | CASR | c.1608G>T (p.Gly536=) c.1869G>T (p.Gly623=) c.1839G>T (p.Gly613=) c.1356G>T (p.Gly452=) c.1251G>T (p.Gly417=) | |
| 3 | g.122283794A= | CA1397871026 | CASR | c.1609A= (p.Ile537=) c.1870A= (p.Ile624=) c.1840A= (p.Ile614=) c.1357A= (p.Ile453=) c.1252A= (p.Ile418=) | |
| 3 | g.122283794A>C | CA354157565 | CASR | c.1609A>C (p.Ile537Leu) c.1870A>C (p.Ile624Leu) c.1840A>C (p.Ile614Leu) c.1357A>C (p.Ile453Leu) c.1252A>C (p.Ile418Leu) | |
| 3 | g.122283794A>G | CA354157568 | CASR | c.1609A>G (p.Ile537Val) c.1870A>G (p.Ile624Val) c.1840A>G (p.Ile614Val) c.1357A>G (p.Ile453Val) c.1252A>G (p.Ile418Val) | |
| 3 | g.122283794A>T | CA82748574 | CASR | c.1609A>T (p.Ile537Phe) c.1870A>T (p.Ile624Phe) c.1840A>T (p.Ile614Phe) c.1357A>T (p.Ile453Phe) c.1252A>T (p.Ile418Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283795T>A | CA354157570 | CASR | c.1610T>A (p.Ile537Asn) c.1871T>A (p.Ile624Asn) c.1841T>A (p.Ile614Asn) c.1358T>A (p.Ile453Asn) c.1253T>A (p.Ile418Asn) | |
| 3 | g.122283795T>C | CA82748578 | CASR | c.1610T>C (p.Ile537Thr) c.1871T>C (p.Ile624Thr) c.1841T>C (p.Ile614Thr) c.1358T>C (p.Ile453Thr) c.1253T>C (p.Ile418Thr) | ClinVar dbSNP |
| 3 | g.122283795T>G | CA354157574 | CASR | c.1610T>G (p.Ile537Ser) c.1871T>G (p.Ile624Ser) c.1841T>G (p.Ile614Ser) c.1358T>G (p.Ile453Ser) c.1253T>G (p.Ile418Ser) | |
| 3 | g.122283795T= | CA1397871027 | CASR | c.1610T= (p.Ile537=) c.1871T= (p.Ile624=) c.1841T= (p.Ile614=) c.1358T= (p.Ile453=) c.1253T= (p.Ile418=) | |
| 3 | g.122283796C>A | CA435251892 | CASR | c.1611C>A (p.Ile537=) c.1872C>A (p.Ile624=) c.1842C>A (p.Ile614=) c.1359C>A (p.Ile453=) c.1254C>A (p.Ile418=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283796C= | CA1397871028 | CASR | c.1611C= (p.Ile537=) c.1872C= (p.Ile624=) c.1842C= (p.Ile614=) c.1359C= (p.Ile453=) c.1254C= (p.Ile418=) | |
| 3 | g.122283796C>G | CA82748583 | CASR | c.1611C>G (p.Ile537Met) c.1872C>G (p.Ile624Met) c.1842C>G (p.Ile614Met) c.1359C>G (p.Ile453Met) c.1254C>G (p.Ile418Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122283796C>T | CA2569751 | CASR | c.1611C>T (p.Ile537=) c.1872C>T (p.Ile624=) c.1842C>T (p.Ile614=) c.1359C>T (p.Ile453=) c.1254C>T (p.Ile418=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122283797G>A | CA2569752 | CASR | c.1612G>A (p.Ala538Thr) c.1873G>A (p.Ala625Thr) c.1843G>A (p.Ala615Thr) c.1360G>A (p.Ala454Thr) c.1255G>A (p.Ala419Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122283797G>C | CA354157583 | CASR | c.1612G>C (p.Ala538Pro) c.1873G>C (p.Ala625Pro) c.1843G>C (p.Ala615Pro) c.1360G>C (p.Ala454Pro) c.1255G>C (p.Ala419Pro) | ClinVar |
| 3 | g.122283797G= | CA1397871032 | CASR | c.1612G= (p.Ala538=) c.1873G= (p.Ala625=) c.1843G= (p.Ala615=) c.1360G= (p.Ala454=) c.1255G= (p.Ala419=) | |
| 3 | g.122283797G>T | CA82748585 | CASR | c.1612G>T (p.Ala538Ser) c.1873G>T (p.Ala625Ser) c.1843G>T (p.Ala615Ser) c.1360G>T (p.Ala454Ser) c.1255G>T (p.Ala419Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283798C>A | CA354157590 | CASR | c.1613C>A (p.Ala538Glu) c.1874C>A (p.Ala625Glu) c.1844C>A (p.Ala615Glu) c.1361C>A (p.Ala454Glu) c.1256C>A (p.Ala419Glu) | |
| 3 | g.122283798C>G | CA354157592 | CASR | c.1613C>G (p.Ala538Gly) c.1874C>G (p.Ala625Gly) c.1844C>G (p.Ala615Gly) c.1361C>G (p.Ala454Gly) c.1256C>G (p.Ala419Gly) | |
| 3 | g.122283798C>T | CA354157597 | CASR | c.1613C>T (p.Ala538Val) c.1874C>T (p.Ala625Val) c.1844C>T (p.Ala615Val) c.1361C>T (p.Ala454Val) c.1256C>T (p.Ala419Val) | ClinVar |
| 3 | g.122283801_122283804del | CA2740094570 | CASR | c.1616_1619del (p.Leu539ProfsTer10) c.1877_1880del (p.Leu626ProfsTer10) c.1847_1850del (p.Leu616ProfsTer10) c.1364_1367del (p.Leu455ProfsTer10) c.1259_1262del (p.Leu420ProfsTer10) | ClinVar |
| 3 | g.122283799A>C | CA435251893 | CASR | c.1614A>C (p.Ala538=) c.1875A>C (p.Ala625=) c.1845A>C (p.Ala615=) c.1362A>C (p.Ala454=) c.1257A>C (p.Ala419=) | |
| 3 | g.122283799A>G | CA435251894 | CASR | c.1614A>G (p.Ala538=) c.1875A>G (p.Ala625=) c.1845A>G (p.Ala615=) c.1362A>G (p.Ala454=) c.1257A>G (p.Ala419=) | gnomAD v4 |
| 3 | g.122283799A>T | CA435251895 | CASR | c.1614A>T (p.Ala538=) c.1875A>T (p.Ala625=) c.1845A>T (p.Ala615=) c.1362A>T (p.Ala454=) c.1257A>T (p.Ala419=) | |
| 3 | g.122283800C>A | CA354157604 | CASR | c.1615C>A (p.Leu539Ile) c.1876C>A (p.Leu626Ile) c.1846C>A (p.Leu616Ile) c.1363C>A (p.Leu455Ile) c.1258C>A (p.Leu420Ile) | |
| 3 | g.122283800C= | CA1397871033 | CASR | c.1615C= (p.Leu539=) c.1876C= (p.Leu626=) c.1846C= (p.Leu616=) c.1363C= (p.Leu455=) c.1258C= (p.Leu420=) | |
| 3 | g.122283800C>G | CA119513 | CASR | c.1615C>G (p.Leu539Val) c.1876C>G (p.Leu626Val) c.1846C>G (p.Leu616Val) c.1363C>G (p.Leu455Val) c.1258C>G (p.Leu420Val) | ClinVar dbSNP |
| 3 | g.122283800C>T | CA354157599 | CASR | c.1615C>T (p.Leu539Phe) c.1876C>T (p.Leu626Phe) c.1846C>T (p.Leu616Phe) c.1363C>T (p.Leu455Phe) c.1258C>T (p.Leu420Phe) | |
| 3 | g.122283801T>A | CA354157607 | CASR | c.1616T>A (p.Leu539His) c.1877T>A (p.Leu626His) c.1847T>A (p.Leu616His) c.1364T>A (p.Leu455His) c.1259T>A (p.Leu420His) | |
| 3 | g.122283801T>C | CA354157610 | CASR | c.1616T>C (p.Leu539Pro) c.1877T>C (p.Leu626Pro) c.1847T>C (p.Leu616Pro) c.1364T>C (p.Leu455Pro) c.1259T>C (p.Leu420Pro) | |
| 3 | g.122283801T>G | CA354157611 | CASR | c.1616T>G (p.Leu539Arg) c.1877T>G (p.Leu626Arg) c.1847T>G (p.Leu616Arg) c.1364T>G (p.Leu455Arg) c.1259T>G (p.Leu420Arg) | |
| 3 | g.122283802C>A | CA435251896 | CASR | c.1617C>A (p.Leu539=) c.1878C>A (p.Leu626=) c.1848C>A (p.Leu616=) c.1365C>A (p.Leu455=) c.1260C>A (p.Leu420=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283802C>G | CA435251897 | CASR | c.1617C>G (p.Leu539=) c.1878C>G (p.Leu626=) c.1848C>G (p.Leu616=) c.1365C>G (p.Leu455=) c.1260C>G (p.Leu420=) | |
| 3 | g.122283802C>T | CA435251898 | CASR | c.1617C>T (p.Leu539=) c.1878C>T (p.Leu626=) c.1848C>T (p.Leu616=) c.1365C>T (p.Leu455=) c.1260C>T (p.Leu420=) | |
| 3 | g.122283802_122283803delinsCA | CA1397871034 | CASR | c.1617_1618delinsCA (p.Leu539=) c.1878_1879delinsCA (p.Leu626=) c.1848_1849delinsCA (p.Leu616=) c.1365_1366delinsCA (p.Leu455=) c.1260_1261delinsCA (p.Leu420=) | |
| 3 | g.122283803del | CA658657327 | CASR | c.1618del (p.Thr540ProfsTer10) c.1879del (p.Thr627ProfsTer10) c.1849del (p.Thr617ProfsTer10) c.1366del (p.Thr456ProfsTer10) c.1261del (p.Thr421ProfsTer10) | ClinVar dbSNP |
| 3 | g.122283803A= | CA1397871038 | CASR | c.1618A= (p.Thr540=) c.1879A= (p.Thr627=) c.1849A= (p.Thr617=) c.1366A= (p.Thr456=) c.1261A= (p.Thr421=) | |
| 3 | g.122283803A>C | CA354157615 | CASR | c.1618A>C (p.Thr540Pro) c.1879A>C (p.Thr627Pro) c.1849A>C (p.Thr617Pro) c.1366A>C (p.Thr456Pro) c.1261A>C (p.Thr421Pro) | |
| 3 | g.122283803A>G | CA354157617 | CASR | c.1618A>G (p.Thr540Ala) c.1879A>G (p.Thr627Ala) c.1849A>G (p.Thr617Ala) c.1366A>G (p.Thr456Ala) c.1261A>G (p.Thr421Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283803A>T | CA354157620 | CASR | c.1618A>T (p.Thr540Ser) c.1879A>T (p.Thr627Ser) c.1849A>T (p.Thr617Ser) c.1366A>T (p.Thr456Ser) c.1261A>T (p.Thr421Ser) | |
| 3 | g.122283804C>A | CA354157623 | CASR | c.1619C>A (p.Thr540Asn) c.1880C>A (p.Thr627Asn) c.1850C>A (p.Thr617Asn) c.1367C>A (p.Thr456Asn) c.1262C>A (p.Thr421Asn) | dbSNP |
| 3 | g.122283804C= | CA1397871042 | CASR | c.1619C= (p.Thr540=) c.1880C= (p.Thr627=) c.1850C= (p.Thr617=) c.1367C= (p.Thr456=) c.1262C= (p.Thr421=) | |
| 3 | g.122283804C>G | CA354157627 | CASR | c.1619C>G (p.Thr540Ser) c.1880C>G (p.Thr627Ser) c.1850C>G (p.Thr617Ser) c.1367C>G (p.Thr456Ser) c.1262C>G (p.Thr421Ser) | |
| 3 | g.122283804C>T | CA354157625 | CASR | c.1619C>T (p.Thr540Ile) c.1880C>T (p.Thr627Ile) c.1850C>T (p.Thr617Ile) c.1367C>T (p.Thr456Ile) c.1262C>T (p.Thr421Ile) | ClinVar |
| 3 | g.122283806del | CA2573136450 | CASR | c.1621del (p.Leu541SerfsTer9) c.1882del (p.Leu628SerfsTer9) c.1852del (p.Leu618SerfsTer9) c.1369del (p.Leu457SerfsTer9) c.1264del (p.Leu422SerfsTer9) | ClinVar dbSNP |
| 3 | g.122283805C>A | CA435251899 | CASR | c.1620C>A (p.Thr540=) c.1881C>A (p.Thr627=) c.1851C>A (p.Thr617=) c.1368C>A (p.Thr456=) c.1263C>A (p.Thr421=) | ClinVar dbSNP |
| 3 | g.122283805C= | CA1397871045 | CASR | c.1620C= (p.Thr540=) c.1881C= (p.Thr627=) c.1851C= (p.Thr617=) c.1368C= (p.Thr456=) c.1263C= (p.Thr421=) | |
| 3 | g.122283805C>G | CA435251900 | CASR | c.1620C>G (p.Thr540=) c.1881C>G (p.Thr627=) c.1851C>G (p.Thr617=) c.1368C>G (p.Thr456=) c.1263C>G (p.Thr421=) | |
| 3 | g.122283805C>T | CA435251901 | CASR | c.1620C>T (p.Thr540=) c.1881C>T (p.Thr627=) c.1851C>T (p.Thr617=) c.1368C>T (p.Thr456=) c.1263C>T (p.Thr421=) | |
| 3 | g.122283806C>A | CA354157631 | CASR | c.1621C>A (p.Leu541Ile) c.1882C>A (p.Leu628Ile) c.1852C>A (p.Leu618Ile) c.1369C>A (p.Leu457Ile) c.1264C>A (p.Leu422Ile) | |
| 3 | g.122283806C= | CA1397871049 | CASR | c.1621C= (p.Leu541=) c.1882C= (p.Leu628=) c.1852C= (p.Leu618=) c.1369C= (p.Leu457=) c.1264C= (p.Leu422=) | |
| 3 | g.122283806C>G | CA354157634 | CASR | c.1621C>G (p.Leu541Val) c.1882C>G (p.Leu628Val) c.1852C>G (p.Leu618Val) c.1369C>G (p.Leu457Val) c.1264C>G (p.Leu422Val) | ClinVar dbSNP |
| 3 | g.122283806C>T | CA354157637 | CASR | c.1621C>T (p.Leu541Phe) c.1882C>T (p.Leu628Phe) c.1852C>T (p.Leu618Phe) c.1369C>T (p.Leu457Phe) c.1264C>T (p.Leu422Phe) | ClinVar gnomAD v4 COSMIC |
| 3 | g.122283807T>A | CA354157639 | CASR | c.1622T>A (p.Leu541His) c.1883T>A (p.Leu628His) c.1853T>A (p.Leu618His) c.1370T>A (p.Leu457His) c.1265T>A (p.Leu422His) | |
| 3 | g.122283807T>C | CA354157641 | CASR | c.1622T>C (p.Leu541Pro) c.1883T>C (p.Leu628Pro) c.1853T>C (p.Leu618Pro) c.1370T>C (p.Leu457Pro) c.1265T>C (p.Leu422Pro) | |
| 3 | g.122283807T>G | CA354157645 | CASR | c.1622T>G (p.Leu541Arg) c.1883T>G (p.Leu628Arg) c.1853T>G (p.Leu618Arg) c.1370T>G (p.Leu457Arg) c.1265T>G (p.Leu422Arg) | ClinVar dbSNP |
| 3 | g.122283808C>A | CA435251902 | CASR | c.1623C>A (p.Leu541=) c.1884C>A (p.Leu628=) c.1854C>A (p.Leu618=) c.1371C>A (p.Leu457=) c.1266C>A (p.Leu422=) | |
| 3 | g.122283808C= | CA1397871054 | CASR | c.1623C= (p.Leu541=) c.1884C= (p.Leu628=) c.1854C= (p.Leu618=) c.1371C= (p.Leu457=) c.1266C= (p.Leu422=) | |
| 3 | g.122283808C>G | CA435251903 | CASR | c.1623C>G (p.Leu541=) c.1884C>G (p.Leu628=) c.1854C>G (p.Leu618=) c.1371C>G (p.Leu457=) c.1266C>G (p.Leu422=) | |
| 3 | g.122283808C>T | CA435251904 | CASR | c.1623C>T (p.Leu541=) c.1884C>T (p.Leu628=) c.1854C>T (p.Leu618=) c.1371C>T (p.Leu457=) c.1266C>T (p.Leu422=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283809T>A | CA354157653 | CASR | c.1624T>A (p.Phe542Ile) c.1885T>A (p.Phe629Ile) c.1855T>A (p.Phe619Ile) c.1372T>A (p.Phe458Ile) c.1267T>A (p.Phe423Ile) | |
| 3 | g.122283809T>C | CA354157656 | CASR | c.1624T>C (p.Phe542Leu) c.1885T>C (p.Phe629Leu) c.1855T>C (p.Phe619Leu) c.1372T>C (p.Phe458Leu) c.1267T>C (p.Phe423Leu) | |
| 3 | g.122283809T>G | CA354157659 | CASR | c.1624T>G (p.Phe542Val) c.1885T>G (p.Phe629Val) c.1855T>G (p.Phe619Val) c.1372T>G (p.Phe458Val) c.1267T>G (p.Phe423Val) | |
| 3 | g.122283810_122283811del | CA2586972858 | CASR | c.1625_1626del (p.Phe542CysfsTer?) c.1886_1887del (p.Phe629CysfsTer?) c.1856_1857del (p.Phe619CysfsTer?) c.1373_1374del (p.Phe458CysfsTer?) c.1268_1269del (p.Phe423CysfsTer?) | |
| 3 | g.122283810T>A | CA354157662 | CASR | c.1625T>A (p.Phe542Tyr) c.1886T>A (p.Phe629Tyr) c.1856T>A (p.Phe619Tyr) c.1373T>A (p.Phe458Tyr) c.1268T>A (p.Phe423Tyr) | |
| 3 | g.122283810T>C | CA354157672 | CASR | c.1625T>C (p.Phe542Ser) c.1886T>C (p.Phe629Ser) c.1856T>C (p.Phe619Ser) c.1373T>C (p.Phe458Ser) c.1268T>C (p.Phe423Ser) | COSMIC |
| 3 | g.122283810T>G | CA354157677 | CASR | c.1625T>G (p.Phe542Cys) c.1886T>G (p.Phe629Cys) c.1856T>G (p.Phe619Cys) c.1373T>G (p.Phe458Cys) c.1268T>G (p.Phe423Cys) | gnomAD v4 |
| 3 | g.122283811T>A | CA354157679 | CASR | c.1626T>A (p.Phe542Leu) c.1887T>A (p.Phe629Leu) c.1857T>A (p.Phe619Leu) c.1374T>A (p.Phe458Leu) c.1269T>A (p.Phe423Leu) | |
| 3 | g.122283811T>C | CA82748588 | CASR | c.1626T>C (p.Phe542=) c.1887T>C (p.Phe629=) c.1857T>C (p.Phe619=) c.1374T>C (p.Phe458=) c.1269T>C (p.Phe423=) | dbSNP |
| 3 | g.122283811T>G | CA354157681 | CASR | c.1626T>G (p.Phe542Leu) c.1887T>G (p.Phe629Leu) c.1857T>G (p.Phe619Leu) c.1374T>G (p.Phe458Leu) c.1269T>G (p.Phe423Leu) | |
| 3 | g.122283811T= | CA1397871055 | CASR | c.1626T= (p.Phe542=) c.1887T= (p.Phe629=) c.1857T= (p.Phe619=) c.1374T= (p.Phe458=) c.1269T= (p.Phe423=) | |
| 3 | g.122283812G>A | CA354157686 | CASR | c.1627G>A (p.Ala543Thr) c.1888G>A (p.Ala630Thr) c.1858G>A (p.Ala620Thr) c.1375G>A (p.Ala459Thr) c.1270G>A (p.Ala424Thr) | |
| 3 | g.122283812G>C | CA354157687 | CASR | c.1627G>C (p.Ala543Pro) c.1888G>C (p.Ala630Pro) c.1858G>C (p.Ala620Pro) c.1375G>C (p.Ala459Pro) c.1270G>C (p.Ala424Pro) | |
| 3 | g.122283812G>T | CA354157689 | CASR | c.1627G>T (p.Ala543Ser) c.1888G>T (p.Ala630Ser) c.1858G>T (p.Ala620Ser) c.1375G>T (p.Ala459Ser) c.1270G>T (p.Ala424Ser) | |
| 3 | g.122283813C>A | CA354157692 | CASR | c.1628C>A (p.Ala543Asp) c.1889C>A (p.Ala630Asp) c.1859C>A (p.Ala620Asp) c.1376C>A (p.Ala459Asp) c.1271C>A (p.Ala424Asp) | |
| 3 | g.122283813C>G | CA354157695 | CASR | c.1628C>G (p.Ala543Gly) c.1889C>G (p.Ala630Gly) c.1859C>G (p.Ala620Gly) c.1376C>G (p.Ala459Gly) c.1271C>G (p.Ala424Gly) | |
| 3 | g.122283813C>T | CA354157696 | CASR | c.1628C>T (p.Ala543Val) c.1889C>T (p.Ala630Val) c.1859C>T (p.Ala620Val) c.1376C>T (p.Ala459Val) c.1271C>T (p.Ala424Val) | |
| 3 | g.122283814C>A | CA435251905 | CASR | c.1629C>A (p.Ala543=) c.1890C>A (p.Ala630=) c.1860C>A (p.Ala620=) c.1377C>A (p.Ala459=) c.1272C>A (p.Ala424=) | |
| 3 | g.122283814C= | CA1397871057 | CASR | c.1629C= (p.Ala543=) c.1890C= (p.Ala630=) c.1860C= (p.Ala620=) c.1377C= (p.Ala459=) c.1272C= (p.Ala424=) | |
| 3 | g.122283814C>G | CA435251906 | CASR | c.1629C>G (p.Ala543=) c.1890C>G (p.Ala630=) c.1860C>G (p.Ala620=) c.1377C>G (p.Ala459=) c.1272C>G (p.Ala424=) | ClinVar dbSNP |
| 3 | g.122283814C>T | CA2569753 | CASR | c.1629C>T (p.Ala543=) c.1890C>T (p.Ala630=) c.1860C>T (p.Ala620=) c.1377C>T (p.Ala459=) c.1272C>T (p.Ala424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283815del | CA435251907 | CASR | c.1630del (p.Val544CysfsTer6) c.1891del (p.Val631CysfsTer6) c.1861del (p.Val621CysfsTer6) c.1378del (p.Val460CysfsTer6) c.1273del (p.Val425CysfsTer6) | COSMIC |
| 3 | g.122283815G>A | CA2569754 | CASR | c.1630G>A (p.Val544Met) c.1891G>A (p.Val631Met) c.1861G>A (p.Val621Met) c.1378G>A (p.Val460Met) c.1273G>A (p.Val425Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122283815G>C | CA354157697 | CASR | c.1630G>C (p.Val544Leu) c.1891G>C (p.Val631Leu) c.1861G>C (p.Val621Leu) c.1378G>C (p.Val460Leu) c.1273G>C (p.Val425Leu) | ClinVar |
| 3 | g.122283815G= | CA1397871058 | CASR | c.1630G= (p.Val544=) c.1891G= (p.Val631=) c.1861G= (p.Val621=) c.1378G= (p.Val460=) c.1273G= (p.Val425=) | |
| 3 | g.122283815G>T | CA354157699 | CASR | c.1630G>T (p.Val544Leu) c.1891G>T (p.Val631Leu) c.1861G>T (p.Val621Leu) c.1378G>T (p.Val460Leu) c.1273G>T (p.Val425Leu) | |
| 3 | g.122283816T>A | CA354157707 | CASR | c.1631T>A (p.Val544Glu) c.1892T>A (p.Val631Glu) c.1862T>A (p.Val621Glu) c.1379T>A (p.Val460Glu) c.1274T>A (p.Val425Glu) | |
| 3 | g.122283816T>C | CA354157710 | CASR | c.1631T>C (p.Val544Ala) c.1892T>C (p.Val631Ala) c.1862T>C (p.Val621Ala) c.1379T>C (p.Val460Ala) c.1274T>C (p.Val425Ala) | |
| 3 | g.122283816T>G | CA354157713 | CASR | c.1631T>G (p.Val544Gly) c.1892T>G (p.Val631Gly) c.1862T>G (p.Val621Gly) c.1379T>G (p.Val460Gly) c.1274T>G (p.Val425Gly) |