Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.101483019T>A | CA476501242 | TRPC6 | c.1440A>T (p.Ala480=) c.1092A>T (p.Ala364=) c.1275A>T (p.Ala425=) n.1796A>T | |
11 | g.101483019T>C | CA10581542 | TRPC6 | c.1440A>G (p.Ala480=) c.1092A>G (p.Ala364=) c.1275A>G (p.Ala425=) n.1796A>G | ClinVar dbSNP |
11 | g.101483019T>G | CA476501243 | TRPC6 | c.1440A>C (p.Ala480=) c.1092A>C (p.Ala364=) c.1275A>C (p.Ala425=) n.1796A>C | |
11 | g.101483019T= | CA1995839537 | TRPC6 | c.1440A= (p.Ala480=) c.1092A= (p.Ala364=) c.1275A= (p.Ala425=) n.1796A= | |
11 | g.101483020G>A | CA382441517 | TRPC6 | c.1439C>T (p.Ala480Val) c.1091C>T (p.Ala364Val) c.1274C>T (p.Ala425Val) n.1795C>T | gnomAD v4 |
11 | g.101483020G>C | CA382441519 | TRPC6 | c.1439C>G (p.Ala480Gly) c.1091C>G (p.Ala364Gly) c.1274C>G (p.Ala425Gly) n.1795C>G | |
11 | g.101483020G>T | CA382441521 | TRPC6 | c.1439C>A (p.Ala480Glu) c.1091C>A (p.Ala364Glu) c.1274C>A (p.Ala425Glu) n.1795C>A | |
11 | g.101483021C>A | CA382441536 | TRPC6 | c.1438G>T (p.Ala480Ser) c.1090G>T (p.Ala364Ser) c.1273G>T (p.Ala425Ser) n.1794G>T | |
11 | g.101483021C>G | CA382441538 | TRPC6 | c.1438G>C (p.Ala480Pro) c.1090G>C (p.Ala364Pro) c.1273G>C (p.Ala425Pro) n.1794G>C | |
11 | g.101483021C>T | CA382441540 | TRPC6 | c.1438G>A (p.Ala480Thr) c.1090G>A (p.Ala364Thr) c.1273G>A (p.Ala425Thr) n.1794G>A | gnomAD v4 COSMIC |
11 | g.101483022A>C | CA382441542 | TRPC6 | c.1437T>G (p.Asn479Lys) c.1089T>G (p.Asn363Lys) c.1272T>G (p.Asn424Lys) n.1793T>G | |
11 | g.101483022A>G | CA476501245 | TRPC6 | c.1437T>C (p.Asn479=) c.1089T>C (p.Asn363=) c.1272T>C (p.Asn424=) n.1793T>C | |
11 | g.101483022A>T | CA382441544 | TRPC6 | c.1437T>A (p.Asn479Lys) c.1089T>A (p.Asn363Lys) c.1272T>A (p.Asn424Lys) n.1793T>A | |
11 | g.101483023T>A | CA382441546 | TRPC6 | c.1436A>T (p.Asn479Ile) c.1088A>T (p.Asn363Ile) c.1271A>T (p.Asn424Ile) n.1792A>T | |
11 | g.101483023T>C | CA382441550 | TRPC6 | c.1436A>G (p.Asn479Ser) c.1088A>G (p.Asn363Ser) c.1271A>G (p.Asn424Ser) n.1792A>G | gnomAD v4 |
11 | g.101483023T>G | CA382441551 | TRPC6 | c.1436A>C (p.Asn479Thr) c.1088A>C (p.Asn363Thr) c.1271A>C (p.Asn424Thr) n.1792A>C | |
11 | g.101483024T>A | CA382441553 | TRPC6 | c.1435A>T (p.Asn479Tyr) c.1087A>T (p.Asn363Tyr) c.1270A>T (p.Asn424Tyr) n.1791A>T | |
11 | g.101483024T>C | CA382441555 | TRPC6 | c.1435A>G (p.Asn479Asp) c.1087A>G (p.Asn363Asp) c.1270A>G (p.Asn424Asp) n.1791A>G | |
11 | g.101483024T>G | CA382441557 | TRPC6 | c.1435A>C (p.Asn479His) c.1087A>C (p.Asn363His) c.1270A>C (p.Asn424His) n.1791A>C | |
11 | g.101483025A>C | CA382441559 | TRPC6 | c.1434T>G (p.Asp478Glu) c.1086T>G (p.Asp362Glu) c.1269T>G (p.Asp423Glu) n.1790T>G | |
11 | g.101483025A>G | CA476501249 | TRPC6 | c.1434T>C (p.Asp478=) c.1086T>C (p.Asp362=) c.1269T>C (p.Asp423=) n.1790T>C | |
11 | g.101483025A>T | CA382441561 | TRPC6 | c.1434T>A (p.Asp478Glu) c.1086T>A (p.Asp362Glu) c.1269T>A (p.Asp423Glu) n.1790T>A | |
11 | g.101483026T>A | CA227518840 | TRPC6 | c.1433A>T (p.Asp478Val) c.1085A>T (p.Asp362Val) c.1268A>T (p.Asp423Val) n.1789A>T | dbSNP |
11 | g.101483026T>C | CA382441567 | TRPC6 | c.1433A>G (p.Asp478Gly) c.1085A>G (p.Asp362Gly) c.1268A>G (p.Asp423Gly) n.1789A>G | gnomAD v4 |
11 | g.101483026T>G | CA382441564 | TRPC6 | c.1433A>C (p.Asp478Ala) c.1085A>C (p.Asp362Ala) c.1268A>C (p.Asp423Ala) n.1789A>C | |
11 | g.101483026T= | CA1995839546 | TRPC6 | c.1433A= (p.Asp478=) c.1085A= (p.Asp362=) c.1268A= (p.Asp423=) n.1789A= | |
11 | g.101483027C>A | CA382441569 | TRPC6 | c.1432G>T (p.Asp478Tyr) c.1084G>T (p.Asp362Tyr) c.1267G>T (p.Asp423Tyr) n.1788G>T | |
11 | g.101483027C= | CA1995839550 | TRPC6 | c.1432G= (p.Asp478=) c.1084G= (p.Asp362=) c.1267G= (p.Asp423=) n.1788G= | |
11 | g.101483027C>G | CA6244331 | TRPC6 | c.1432G>C (p.Asp478His) c.1084G>C (p.Asp362His) c.1267G>C (p.Asp423His) n.1788G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.101483027C>T | CA382441571 | TRPC6 | c.1432G>A (p.Asp478Asn) c.1084G>A (p.Asp362Asn) c.1267G>A (p.Asp423Asn) n.1788G>A | |
11 | g.101483028T>A | CA476501253 | TRPC6 | c.1431A>T (p.Thr477=) c.1083A>T (p.Thr361=) c.1266A>T (p.Thr422=) n.1787A>T | |
11 | g.101483028T>C | CA476501254 | TRPC6 | c.1431A>G (p.Thr477=) c.1083A>G (p.Thr361=) c.1266A>G (p.Thr422=) n.1787A>G | |
11 | g.101483028T>G | CA476501255 | TRPC6 | c.1431A>C (p.Thr477=) c.1083A>C (p.Thr361=) c.1266A>C (p.Thr422=) n.1787A>C | |
11 | g.101483029G>A | CA382441574 | TRPC6 | c.1430C>T (p.Thr477Ile) c.1082C>T (p.Thr361Ile) c.1265C>T (p.Thr422Ile) n.1786C>T | |
11 | g.101483029G>C | CA227518871 | TRPC6 | c.1430C>G (p.Thr477Arg) c.1082C>G (p.Thr361Arg) c.1265C>G (p.Thr422Arg) n.1786C>G | dbSNP gnomAD v4 |
11 | g.101483029G= | CA1995839556 | TRPC6 | c.1430C= (p.Thr477=) c.1082C= (p.Thr361=) c.1265C= (p.Thr422=) n.1786C= | |
11 | g.101483029G>T | CA227518866 | TRPC6 | c.1430C>A (p.Thr477Lys) c.1082C>A (p.Thr361Lys) c.1265C>A (p.Thr422Lys) n.1786C>A | dbSNP |
11 | g.101483030T>A | CA382441578 | TRPC6 | c.1429A>T (p.Thr477Ser) c.1081A>T (p.Thr361Ser) c.1264A>T (p.Thr422Ser) n.1785A>T | |
11 | g.101483030T>C | CA382441580 | TRPC6 | c.1429A>G (p.Thr477Ala) c.1081A>G (p.Thr361Ala) c.1264A>G (p.Thr422Ala) n.1785A>G | |
11 | g.101483030T>G | CA382441582 | TRPC6 | c.1429A>C (p.Thr477Pro) c.1081A>C (p.Thr361Pro) c.1264A>C (p.Thr422Pro) n.1785A>C | |
11 | g.101483032_101483034del | CA2615685744 | TRPC6 | c.1427_1429del (p.Ser476del) c.1079_1081del (p.Ser360del) c.1262_1264del (p.Ser421del) n.1783_1785del | gnomAD v4 |
11 | g.101483031G>A | CA476501259 | TRPC6 | c.1428C>T (p.Ser476=) c.1080C>T (p.Ser360=) c.1263C>T (p.Ser421=) n.1784C>T | |
11 | g.101483031G>C | CA382441586 | TRPC6 | c.1428C>G (p.Ser476Arg) c.1080C>G (p.Ser360Arg) c.1263C>G (p.Ser421Arg) n.1784C>G | |
11 | g.101483031G>T | CA382441588 | TRPC6 | c.1428C>A (p.Ser476Arg) c.1080C>A (p.Ser360Arg) c.1263C>A (p.Ser421Arg) n.1784C>A | gnomAD v4 |
11 | g.101483032C>A | CA382441591 | TRPC6 | c.1427G>T (p.Ser476Ile) c.1079G>T (p.Ser360Ile) c.1262G>T (p.Ser421Ile) n.1783G>T | |
11 | g.101483032C= | CA1995839560 | TRPC6 | c.1427G= (p.Ser476=) c.1079G= (p.Ser360=) c.1262G= (p.Ser421=) n.1783G= | |
11 | g.101483032C>G | CA382441592 | TRPC6 | c.1427G>C (p.Ser476Thr) c.1079G>C (p.Ser360Thr) c.1262G>C (p.Ser421Thr) n.1783G>C | |
11 | g.101483032C>T | CA382441594 | TRPC6 | c.1427G>A (p.Ser476Asn) c.1079G>A (p.Ser360Asn) c.1262G>A (p.Ser421Asn) n.1783G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.101483033T>A | CA382441596 | TRPC6 | c.1426A>T (p.Ser476Cys) c.1078A>T (p.Ser360Cys) c.1261A>T (p.Ser421Cys) n.1782A>T | |
11 | g.101483033T>C | CA382441597 | TRPC6 | c.1426A>G (p.Ser476Gly) c.1078A>G (p.Ser360Gly) c.1261A>G (p.Ser421Gly) n.1782A>G | dbSNP gnomAD v2 gnomAD v4 |