SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94298462A>C | CA377641826 | PLCE1 | c.4327A>C (p.Thr1443Pro) c.*1794A>C (n.*1794A>C) n.1986A>C n.670A>C c.*535A>C (n.*535A>C) c.4279A>C (p.Thr1427Pro) n.9459A>C n.2924A>C c.5119A>C (p.Thr1707Pro) c.5203A>C (p.Thr1735Pro) c.5251A>C (p.Thr1751Pro) c.4225A>C (p.Thr1409Pro) c.3806A>C c.3367A>C (p.Thr1123Pro) c.*1184A>C (n.*1184A>C) c.4520A>C c.4096A>C (p.Thr1366Pro) c.5293A>C (p.Thr1765Pro) c.5290A>C (p.Thr1764Pro) c.5245A>C (p.Thr1749Pro) c.4369A>C (p.Thr1457Pro) c.4138A>C (p.Thr1380Pro) | |
| 10 | g.94298462A>G | CA377641825 | PLCE1 | c.4327A>G (p.Thr1443Ala) c.*1794A>G (n.*1794A>G) n.1986A>G n.670A>G c.*535A>G (n.*535A>G) c.4279A>G (p.Thr1427Ala) n.9459A>G n.2924A>G c.5119A>G (p.Thr1707Ala) c.5203A>G (p.Thr1735Ala) c.5251A>G (p.Thr1751Ala) c.4225A>G (p.Thr1409Ala) c.3806A>G c.3367A>G (p.Thr1123Ala) c.*1184A>G (n.*1184A>G) c.4520A>G c.4096A>G (p.Thr1366Ala) c.5293A>G (p.Thr1765Ala) c.5290A>G (p.Thr1764Ala) c.5245A>G (p.Thr1749Ala) c.4369A>G (p.Thr1457Ala) c.4138A>G (p.Thr1380Ala) | |
| 10 | g.94298462A>T | CA377641824 | PLCE1 | c.4327A>T (p.Thr1443Ser) c.*1794A>T (n.*1794A>T) n.1986A>T n.670A>T c.*535A>T (n.*535A>T) c.4279A>T (p.Thr1427Ser) n.9459A>T n.2924A>T c.5119A>T (p.Thr1707Ser) c.5203A>T (p.Thr1735Ser) c.5251A>T (p.Thr1751Ser) c.4225A>T (p.Thr1409Ser) c.3806A>T c.3367A>T (p.Thr1123Ser) c.*1184A>T (n.*1184A>T) c.4520A>T c.4096A>T (p.Thr1366Ser) c.5293A>T (p.Thr1765Ser) c.5290A>T (p.Thr1764Ser) c.5245A>T (p.Thr1749Ser) c.4369A>T (p.Thr1457Ser) c.4138A>T (p.Thr1380Ser) | |
| 10 | g.94298463C>A | CA377641827 | PLCE1 | c.4328C>A (p.Thr1443Asn) c.*1795C>A (n.*1795C>A) n.1987C>A n.671C>A c.*536C>A (n.*536C>A) c.4280C>A (p.Thr1427Asn) n.9460C>A n.2925C>A c.5120C>A (p.Thr1707Asn) c.5204C>A (p.Thr1735Asn) c.5252C>A (p.Thr1751Asn) c.4226C>A (p.Thr1409Asn) c.3807C>A c.3368C>A (p.Thr1123Asn) c.*1185C>A (n.*1185C>A) c.4521C>A c.4097C>A (p.Thr1366Asn) c.5294C>A (p.Thr1765Asn) c.5291C>A (p.Thr1764Asn) c.5246C>A (p.Thr1749Asn) c.4370C>A (p.Thr1457Asn) c.4139C>A (p.Thr1380Asn) | |
| 10 | g.94298463C= | CA1928998403 | PLCE1 | c.4328C= (p.Thr1443=) c.*1795C= (n.*1795C=) n.1987C= n.671C= c.*536C= (n.*536C=) c.4280C= (p.Thr1427=) n.9460C= n.2925C= c.5120C= (p.Thr1707=) c.5204C= (p.Thr1735=) c.5252C= (p.Thr1751=) c.4226C= (p.Thr1409=) c.3807C= c.3368C= (p.Thr1123=) c.*1185C= (n.*1185C=) c.4521C= c.4097C= (p.Thr1366=) c.5294C= (p.Thr1765=) c.5291C= (p.Thr1764=) c.5246C= (p.Thr1749=) c.4370C= (p.Thr1457=) c.4139C= (p.Thr1380=) | |
| 10 | g.94298463C>G | CA377641829 | PLCE1 | c.4328C>G (p.Thr1443Ser) c.*1795C>G (n.*1795C>G) n.1987C>G n.671C>G c.*536C>G (n.*536C>G) c.4280C>G (p.Thr1427Ser) n.9460C>G n.2925C>G c.5120C>G (p.Thr1707Ser) c.5204C>G (p.Thr1735Ser) c.5252C>G (p.Thr1751Ser) c.4226C>G (p.Thr1409Ser) c.3807C>G c.3368C>G (p.Thr1123Ser) c.*1185C>G (n.*1185C>G) c.4521C>G c.4097C>G (p.Thr1366Ser) c.5294C>G (p.Thr1765Ser) c.5291C>G (p.Thr1764Ser) c.5246C>G (p.Thr1749Ser) c.4370C>G (p.Thr1457Ser) c.4139C>G (p.Thr1380Ser) | |
| 10 | g.94298463C>T | CA377641828 | PLCE1 | c.4328C>T (p.Thr1443Ile) c.*1795C>T (n.*1795C>T) n.1987C>T n.671C>T c.*536C>T (n.*536C>T) c.4280C>T (p.Thr1427Ile) n.9460C>T n.2925C>T c.5120C>T (p.Thr1707Ile) c.5204C>T (p.Thr1735Ile) c.5252C>T (p.Thr1751Ile) c.4226C>T (p.Thr1409Ile) c.3807C>T c.3368C>T (p.Thr1123Ile) c.*1185C>T (n.*1185C>T) c.4521C>T c.4097C>T (p.Thr1366Ile) c.5294C>T (p.Thr1765Ile) c.5291C>T (p.Thr1764Ile) c.5246C>T (p.Thr1749Ile) c.4370C>T (p.Thr1457Ile) c.4139C>T (p.Thr1380Ile) | dbSNP |
| 10 | g.94298464T>A | CA470986472 | PLCE1 | c.4329T>A (p.Thr1443=) c.*1796T>A (n.*1796T>A) n.1988T>A n.672T>A c.*537T>A (n.*537T>A) c.4281T>A (p.Thr1427=) n.9461T>A n.2926T>A c.5121T>A (p.Thr1707=) c.5205T>A (p.Thr1735=) c.5253T>A (p.Thr1751=) c.4227T>A (p.Thr1409=) c.3808T>A c.3369T>A (p.Thr1123=) c.*1186T>A (n.*1186T>A) c.4522T>A c.4098T>A (p.Thr1366=) c.5295T>A (p.Thr1765=) c.5292T>A (p.Thr1764=) c.5247T>A (p.Thr1749=) c.4371T>A (p.Thr1457=) c.4140T>A (p.Thr1380=) | |
| 10 | g.94298464T>C | CA470986473 | PLCE1 | c.4329T>C (p.Thr1443=) c.*1796T>C (n.*1796T>C) n.1988T>C n.672T>C c.*537T>C (n.*537T>C) c.4281T>C (p.Thr1427=) n.9461T>C n.2926T>C c.5121T>C (p.Thr1707=) c.5205T>C (p.Thr1735=) c.5253T>C (p.Thr1751=) c.4227T>C (p.Thr1409=) c.3808T>C c.3369T>C (p.Thr1123=) c.*1186T>C (n.*1186T>C) c.4522T>C c.4098T>C (p.Thr1366=) c.5295T>C (p.Thr1765=) c.5292T>C (p.Thr1764=) c.5247T>C (p.Thr1749=) c.4371T>C (p.Thr1457=) c.4140T>C (p.Thr1380=) | dbSNP |
| 10 | g.94298464T>G | CA470986474 | PLCE1 | c.4329T>G (p.Thr1443=) c.*1796T>G (n.*1796T>G) n.1988T>G n.672T>G c.*537T>G (n.*537T>G) c.4281T>G (p.Thr1427=) n.9461T>G n.2926T>G c.5121T>G (p.Thr1707=) c.5205T>G (p.Thr1735=) c.5253T>G (p.Thr1751=) c.4227T>G (p.Thr1409=) c.3808T>G c.3369T>G (p.Thr1123=) c.*1186T>G (n.*1186T>G) c.4522T>G c.4098T>G (p.Thr1366=) c.5295T>G (p.Thr1765=) c.5292T>G (p.Thr1764=) c.5247T>G (p.Thr1749=) c.4371T>G (p.Thr1457=) c.4140T>G (p.Thr1380=) | |
| 10 | g.94298464T= | CA1928998404 | PLCE1 | c.4329T= (p.Thr1443=) c.*1796T= (n.*1796T=) n.1988T= n.672T= c.*537T= (n.*537T=) c.4281T= (p.Thr1427=) n.9461T= n.2926T= c.5121T= (p.Thr1707=) c.5205T= (p.Thr1735=) c.5253T= (p.Thr1751=) c.4227T= (p.Thr1409=) c.3808T= c.3369T= (p.Thr1123=) c.*1186T= (n.*1186T=) c.4522T= c.4098T= (p.Thr1366=) c.5295T= (p.Thr1765=) c.5292T= (p.Thr1764=) c.5247T= (p.Thr1749=) c.4371T= (p.Thr1457=) c.4140T= (p.Thr1380=) | |
| 10 | g.94298465C>A | CA377641830 | PLCE1 | c.4330C>A (p.Pro1444Thr) c.*1797C>A (n.*1797C>A) n.1989C>A n.673C>A c.*538C>A (n.*538C>A) c.4282C>A (p.Pro1428Thr) n.9462C>A n.2927C>A c.5122C>A (p.Pro1708Thr) c.5206C>A (p.Pro1736Thr) c.5254C>A (p.Pro1752Thr) c.4228C>A (p.Pro1410Thr) c.3809C>A c.3370C>A (p.Pro1124Thr) c.*1187C>A (n.*1187C>A) c.4523C>A c.4099C>A (p.Pro1367Thr) c.5296C>A (p.Pro1766Thr) c.5293C>A (p.Pro1765Thr) c.5248C>A (p.Pro1750Thr) c.4372C>A (p.Pro1458Thr) c.4141C>A (p.Pro1381Thr) | |
| 10 | g.94298465C>G | CA377641831 | PLCE1 | c.4330C>G (p.Pro1444Ala) c.*1797C>G (n.*1797C>G) n.1989C>G n.673C>G c.*538C>G (n.*538C>G) c.4282C>G (p.Pro1428Ala) n.9462C>G n.2927C>G c.5122C>G (p.Pro1708Ala) c.5206C>G (p.Pro1736Ala) c.5254C>G (p.Pro1752Ala) c.4228C>G (p.Pro1410Ala) c.3809C>G c.3370C>G (p.Pro1124Ala) c.*1187C>G (n.*1187C>G) c.4523C>G c.4099C>G (p.Pro1367Ala) c.5296C>G (p.Pro1766Ala) c.5293C>G (p.Pro1765Ala) c.5248C>G (p.Pro1750Ala) c.4372C>G (p.Pro1458Ala) c.4141C>G (p.Pro1381Ala) | |
| 10 | g.94298465C>T | CA377641832 | PLCE1 | c.4330C>T (p.Pro1444Ser) c.*1797C>T (n.*1797C>T) n.1989C>T n.673C>T c.*538C>T (n.*538C>T) c.4282C>T (p.Pro1428Ser) n.9462C>T n.2927C>T c.5122C>T (p.Pro1708Ser) c.5206C>T (p.Pro1736Ser) c.5254C>T (p.Pro1752Ser) c.4228C>T (p.Pro1410Ser) c.3809C>T c.3370C>T (p.Pro1124Ser) c.*1187C>T (n.*1187C>T) c.4523C>T c.4099C>T (p.Pro1367Ser) c.5296C>T (p.Pro1766Ser) c.5293C>T (p.Pro1765Ser) c.5248C>T (p.Pro1750Ser) c.4372C>T (p.Pro1458Ser) c.4141C>T (p.Pro1381Ser) | |
| 10 | g.94298466C>A | CA377641833 | PLCE1 | c.4331C>A (p.Pro1444His) c.*1798C>A (n.*1798C>A) n.1990C>A n.674C>A c.*539C>A (n.*539C>A) c.4283C>A (p.Pro1428His) n.9463C>A n.2928C>A c.5123C>A (p.Pro1708His) c.5207C>A (p.Pro1736His) c.5255C>A (p.Pro1752His) c.4229C>A (p.Pro1410His) c.3810C>A c.3371C>A (p.Pro1124His) c.*1188C>A (n.*1188C>A) c.4524C>A c.4100C>A (p.Pro1367His) c.5297C>A (p.Pro1766His) c.5294C>A (p.Pro1765His) c.5249C>A (p.Pro1750His) c.4373C>A (p.Pro1458His) c.4142C>A (p.Pro1381His) | |
| 10 | g.94298466C>G | CA377641834 | PLCE1 | c.4331C>G (p.Pro1444Arg) c.*1798C>G (n.*1798C>G) n.1990C>G n.674C>G c.*539C>G (n.*539C>G) c.4283C>G (p.Pro1428Arg) n.9463C>G n.2928C>G c.5123C>G (p.Pro1708Arg) c.5207C>G (p.Pro1736Arg) c.5255C>G (p.Pro1752Arg) c.4229C>G (p.Pro1410Arg) c.3810C>G c.3371C>G (p.Pro1124Arg) c.*1188C>G (n.*1188C>G) c.4524C>G c.4100C>G (p.Pro1367Arg) c.5297C>G (p.Pro1766Arg) c.5294C>G (p.Pro1765Arg) c.5249C>G (p.Pro1750Arg) c.4373C>G (p.Pro1458Arg) c.4142C>G (p.Pro1381Arg) | |
| 10 | g.94298466C>T | CA377641835 | PLCE1 | c.4331C>T (p.Pro1444Leu) c.*1798C>T (n.*1798C>T) n.1990C>T n.674C>T c.*539C>T (n.*539C>T) c.4283C>T (p.Pro1428Leu) n.9463C>T n.2928C>T c.5123C>T (p.Pro1708Leu) c.5207C>T (p.Pro1736Leu) c.5255C>T (p.Pro1752Leu) c.4229C>T (p.Pro1410Leu) c.3810C>T c.3371C>T (p.Pro1124Leu) c.*1188C>T (n.*1188C>T) c.4524C>T c.4100C>T (p.Pro1367Leu) c.5297C>T (p.Pro1766Leu) c.5294C>T (p.Pro1765Leu) c.5249C>T (p.Pro1750Leu) c.4373C>T (p.Pro1458Leu) c.4142C>T (p.Pro1381Leu) | |
| 10 | g.94298467C>A | CA470986475 | PLCE1 | c.4332C>A (p.Pro1444=) c.*1799C>A (n.*1799C>A) n.1991C>A n.675C>A c.*540C>A (n.*540C>A) c.4284C>A (p.Pro1428=) n.9464C>A n.2929C>A c.5124C>A (p.Pro1708=) c.5208C>A (p.Pro1736=) c.5256C>A (p.Pro1752=) c.4230C>A (p.Pro1410=) c.3811C>A c.3372C>A (p.Pro1124=) c.*1189C>A (n.*1189C>A) c.4525C>A c.4101C>A (p.Pro1367=) c.5298C>A (p.Pro1766=) c.5295C>A (p.Pro1765=) c.5250C>A (p.Pro1750=) c.4374C>A (p.Pro1458=) c.4143C>A (p.Pro1381=) | |
| 10 | g.94298467C>G | CA470986476 | PLCE1 | c.4332C>G (p.Pro1444=) c.*1799C>G (n.*1799C>G) n.1991C>G n.675C>G c.*540C>G (n.*540C>G) c.4284C>G (p.Pro1428=) n.9464C>G n.2929C>G c.5124C>G (p.Pro1708=) c.5208C>G (p.Pro1736=) c.5256C>G (p.Pro1752=) c.4230C>G (p.Pro1410=) c.3811C>G c.3372C>G (p.Pro1124=) c.*1189C>G (n.*1189C>G) c.4525C>G c.4101C>G (p.Pro1367=) c.5298C>G (p.Pro1766=) c.5295C>G (p.Pro1765=) c.5250C>G (p.Pro1750=) c.4374C>G (p.Pro1458=) c.4143C>G (p.Pro1381=) | |
| 10 | g.94298467C>T | CA470986477 | PLCE1 | c.4332C>T (p.Pro1444=) c.*1799C>T (n.*1799C>T) n.1991C>T n.675C>T c.*540C>T (n.*540C>T) c.4284C>T (p.Pro1428=) n.9464C>T n.2929C>T c.5124C>T (p.Pro1708=) c.5208C>T (p.Pro1736=) c.5256C>T (p.Pro1752=) c.4230C>T (p.Pro1410=) c.3811C>T c.3372C>T (p.Pro1124=) c.*1189C>T (n.*1189C>T) c.4525C>T c.4101C>T (p.Pro1367=) c.5298C>T (p.Pro1766=) c.5295C>T (p.Pro1765=) c.5250C>T (p.Pro1750=) c.4374C>T (p.Pro1458=) c.4143C>T (p.Pro1381=) | |
| 10 | g.94298468A>C | CA377641838 | PLCE1 | c.4333A>C (p.Lys1445Gln) c.*1800A>C (n.*1800A>C) n.1992A>C n.676A>C c.*541A>C (n.*541A>C) c.4285A>C (p.Lys1429Gln) n.9465A>C n.2930A>C c.5125A>C (p.Lys1709Gln) c.5209A>C (p.Lys1737Gln) c.5257A>C (p.Lys1753Gln) c.4231A>C (p.Lys1411Gln) c.3812A>C c.3373A>C (p.Lys1125Gln) c.*1190A>C (n.*1190A>C) c.4526A>C c.4102A>C (p.Lys1368Gln) c.5299A>C (p.Lys1767Gln) c.5296A>C (p.Lys1766Gln) c.5251A>C (p.Lys1751Gln) c.4375A>C (p.Lys1459Gln) c.4144A>C (p.Lys1382Gln) | |
| 10 | g.94298468A>G | CA377641836 | PLCE1 | c.4333A>G (p.Lys1445Glu) c.*1800A>G (n.*1800A>G) n.1992A>G n.676A>G c.*541A>G (n.*541A>G) c.4285A>G (p.Lys1429Glu) n.9465A>G n.2930A>G c.5125A>G (p.Lys1709Glu) c.5209A>G (p.Lys1737Glu) c.5257A>G (p.Lys1753Glu) c.4231A>G (p.Lys1411Glu) c.3812A>G c.3373A>G (p.Lys1125Glu) c.*1190A>G (n.*1190A>G) c.4526A>G c.4102A>G (p.Lys1368Glu) c.5299A>G (p.Lys1767Glu) c.5296A>G (p.Lys1766Glu) c.5251A>G (p.Lys1751Glu) c.4375A>G (p.Lys1459Glu) c.4144A>G (p.Lys1382Glu) | |
| 10 | g.94298468A>T | CA377641837 | PLCE1 | c.4333A>T (p.Lys1445Ter) c.*1800A>T (n.*1800A>T) n.1992A>T n.676A>T c.*541A>T (n.*541A>T) c.4285A>T (p.Lys1429Ter) n.9465A>T n.2930A>T c.5125A>T (p.Lys1709Ter) c.5209A>T (p.Lys1737Ter) c.5257A>T (p.Lys1753Ter) c.4231A>T (p.Lys1411Ter) c.3812A>T c.3373A>T (p.Lys1125Ter) c.*1190A>T (n.*1190A>T) c.4526A>T c.4102A>T (p.Lys1368Ter) c.5299A>T (p.Lys1767Ter) c.5296A>T (p.Lys1766Ter) c.5251A>T (p.Lys1751Ter) c.4375A>T (p.Lys1459Ter) c.4144A>T (p.Lys1382Ter) | |
| 10 | g.94298469A= | CA1928998405 | PLCE1 | c.4334A= (p.Lys1445=) c.*1801A= (n.*1801A=) n.1993A= n.677A= c.*542A= (n.*542A=) c.4286A= (p.Lys1429=) n.9466A= n.2931A= c.5126A= (p.Lys1709=) c.5210A= (p.Lys1737=) c.5258A= (p.Lys1753=) c.4232A= (p.Lys1411=) c.3813A= c.3374A= (p.Lys1125=) c.*1191A= (n.*1191A=) c.4527A= c.4103A= (p.Lys1368=) c.5300A= (p.Lys1767=) c.5297A= (p.Lys1766=) c.5252A= (p.Lys1751=) c.4376A= (p.Lys1459=) c.4145A= (p.Lys1382=) | |
| 10 | g.94298469A>C | CA377641839 | PLCE1 | c.4334A>C (p.Lys1445Thr) c.*1801A>C (n.*1801A>C) n.1993A>C n.677A>C c.*542A>C (n.*542A>C) c.4286A>C (p.Lys1429Thr) n.9466A>C n.2931A>C c.5126A>C (p.Lys1709Thr) c.5210A>C (p.Lys1737Thr) c.5258A>C (p.Lys1753Thr) c.4232A>C (p.Lys1411Thr) c.3813A>C c.3374A>C (p.Lys1125Thr) c.*1191A>C (n.*1191A>C) c.4527A>C c.4103A>C (p.Lys1368Thr) c.5300A>C (p.Lys1767Thr) c.5297A>C (p.Lys1766Thr) c.5252A>C (p.Lys1751Thr) c.4376A>C (p.Lys1459Thr) c.4145A>C (p.Lys1382Thr) | |
| 10 | g.94298469A>G | CA377641840 | PLCE1 | c.4334A>G (p.Lys1445Arg) c.*1801A>G (n.*1801A>G) n.1993A>G n.677A>G c.*542A>G (n.*542A>G) c.4286A>G (p.Lys1429Arg) n.9466A>G n.2931A>G c.5126A>G (p.Lys1709Arg) c.5210A>G (p.Lys1737Arg) c.5258A>G (p.Lys1753Arg) c.4232A>G (p.Lys1411Arg) c.3813A>G c.3374A>G (p.Lys1125Arg) c.*1191A>G (n.*1191A>G) c.4527A>G c.4103A>G (p.Lys1368Arg) c.5300A>G (p.Lys1767Arg) c.5297A>G (p.Lys1766Arg) c.5252A>G (p.Lys1751Arg) c.4376A>G (p.Lys1459Arg) c.4145A>G (p.Lys1382Arg) | dbSNP COSMIC COSMIC |
| 10 | g.94298469A>T | CA377641841 | PLCE1 | c.4334A>T (p.Lys1445Ile) c.*1801A>T (n.*1801A>T) n.1993A>T n.677A>T c.*542A>T (n.*542A>T) c.4286A>T (p.Lys1429Ile) n.9466A>T n.2931A>T c.5126A>T (p.Lys1709Ile) c.5210A>T (p.Lys1737Ile) c.5258A>T (p.Lys1753Ile) c.4232A>T (p.Lys1411Ile) c.3813A>T c.3374A>T (p.Lys1125Ile) c.*1191A>T (n.*1191A>T) c.4527A>T c.4103A>T (p.Lys1368Ile) c.5300A>T (p.Lys1767Ile) c.5297A>T (p.Lys1766Ile) c.5252A>T (p.Lys1751Ile) c.4376A>T (p.Lys1459Ile) c.4145A>T (p.Lys1382Ile) | |
| 10 | g.94298470A>C | CA377641842 | PLCE1 | c.4335A>C (p.Lys1445Asn) c.*1802A>C (n.*1802A>C) n.1994A>C n.678A>C c.*543A>C (n.*543A>C) c.4287A>C (p.Lys1429Asn) n.9467A>C n.2932A>C c.5127A>C (p.Lys1709Asn) c.5211A>C (p.Lys1737Asn) c.5259A>C (p.Lys1753Asn) c.4233A>C (p.Lys1411Asn) c.3814A>C c.3375A>C (p.Lys1125Asn) c.*1192A>C (n.*1192A>C) c.4528A>C c.4104A>C (p.Lys1368Asn) c.5301A>C (p.Lys1767Asn) c.5298A>C (p.Lys1766Asn) c.5253A>C (p.Lys1751Asn) c.4377A>C (p.Lys1459Asn) c.4146A>C (p.Lys1382Asn) | |
| 10 | g.94298470A>G | CA470986479 | PLCE1 | c.4335A>G (p.Lys1445=) c.*1802A>G (n.*1802A>G) n.1994A>G n.678A>G c.*543A>G (n.*543A>G) c.4287A>G (p.Lys1429=) n.9467A>G n.2932A>G c.5127A>G (p.Lys1709=) c.5211A>G (p.Lys1737=) c.5259A>G (p.Lys1753=) c.4233A>G (p.Lys1411=) c.3814A>G c.3375A>G (p.Lys1125=) c.*1192A>G (n.*1192A>G) c.4528A>G c.4104A>G (p.Lys1368=) c.5301A>G (p.Lys1767=) c.5298A>G (p.Lys1766=) c.5253A>G (p.Lys1751=) c.4377A>G (p.Lys1459=) c.4146A>G (p.Lys1382=) | |
| 10 | g.94298470A>T | CA377641843 | PLCE1 | c.4335A>T (p.Lys1445Asn) c.*1802A>T (n.*1802A>T) n.1994A>T n.678A>T c.*543A>T (n.*543A>T) c.4287A>T (p.Lys1429Asn) n.9467A>T n.2932A>T c.5127A>T (p.Lys1709Asn) c.5211A>T (p.Lys1737Asn) c.5259A>T (p.Lys1753Asn) c.4233A>T (p.Lys1411Asn) c.3814A>T c.3375A>T (p.Lys1125Asn) c.*1192A>T (n.*1192A>T) c.4528A>T c.4104A>T (p.Lys1368Asn) c.5301A>T (p.Lys1767Asn) c.5298A>T (p.Lys1766Asn) c.5253A>T (p.Lys1751Asn) c.4377A>T (p.Lys1459Asn) c.4146A>T (p.Lys1382Asn) | |
| 10 | g.94298471T>A | CA377641846 | PLCE1 | c.4336T>A (p.Cys1446Ser) c.*1803T>A (n.*1803T>A) n.1995T>A n.679T>A c.*544T>A (n.*544T>A) c.4288T>A (p.Cys1430Ser) n.9468T>A n.2933T>A c.5128T>A (p.Cys1710Ser) c.5212T>A (p.Cys1738Ser) c.5260T>A (p.Cys1754Ser) c.4234T>A (p.Cys1412Ser) c.3815T>A c.3376T>A (p.Cys1126Ser) c.*1193T>A (n.*1193T>A) c.4529T>A c.4105T>A (p.Cys1369Ser) c.5302T>A (p.Cys1768Ser) c.5299T>A (p.Cys1767Ser) c.5254T>A (p.Cys1752Ser) c.4378T>A (p.Cys1460Ser) c.4147T>A (p.Cys1383Ser) | |
| 10 | g.94298471T>C | CA377641844 | PLCE1 | c.4336T>C (p.Cys1446Arg) c.*1803T>C (n.*1803T>C) n.1995T>C n.679T>C c.*544T>C (n.*544T>C) c.4288T>C (p.Cys1430Arg) n.9468T>C n.2933T>C c.5128T>C (p.Cys1710Arg) c.5212T>C (p.Cys1738Arg) c.5260T>C (p.Cys1754Arg) c.4234T>C (p.Cys1412Arg) c.3815T>C c.3376T>C (p.Cys1126Arg) c.*1193T>C (n.*1193T>C) c.4529T>C c.4105T>C (p.Cys1369Arg) c.5302T>C (p.Cys1768Arg) c.5299T>C (p.Cys1767Arg) c.5254T>C (p.Cys1752Arg) c.4378T>C (p.Cys1460Arg) c.4147T>C (p.Cys1383Arg) | |
| 10 | g.94298471T>G | CA377641845 | PLCE1 | c.4336T>G (p.Cys1446Gly) c.*1803T>G (n.*1803T>G) n.1995T>G n.679T>G c.*544T>G (n.*544T>G) c.4288T>G (p.Cys1430Gly) n.9468T>G n.2933T>G c.5128T>G (p.Cys1710Gly) c.5212T>G (p.Cys1738Gly) c.5260T>G (p.Cys1754Gly) c.4234T>G (p.Cys1412Gly) c.3815T>G c.3376T>G (p.Cys1126Gly) c.*1193T>G (n.*1193T>G) c.4529T>G c.4105T>G (p.Cys1369Gly) c.5302T>G (p.Cys1768Gly) c.5299T>G (p.Cys1767Gly) c.5254T>G (p.Cys1752Gly) c.4378T>G (p.Cys1460Gly) c.4147T>G (p.Cys1383Gly) | |
| 10 | g.94298472G>A | CA377641847 | PLCE1 | c.4337G>A (p.Cys1446Tyr) c.*1804G>A (n.*1804G>A) n.1996G>A n.680G>A c.*545G>A (n.*545G>A) c.4289G>A (p.Cys1430Tyr) n.9469G>A n.2934G>A c.5129G>A (p.Cys1710Tyr) c.5213G>A (p.Cys1738Tyr) c.5261G>A (p.Cys1754Tyr) c.4235G>A (p.Cys1412Tyr) c.3816G>A c.3377G>A (p.Cys1126Tyr) c.*1194G>A (n.*1194G>A) c.4530G>A c.4106G>A (p.Cys1369Tyr) c.5303G>A (p.Cys1768Tyr) c.5300G>A (p.Cys1767Tyr) c.5255G>A (p.Cys1752Tyr) c.4379G>A (p.Cys1460Tyr) c.4148G>A (p.Cys1383Tyr) | dbSNP |
| 10 | g.94298472G>C | CA377641848 | PLCE1 | c.4337G>C (p.Cys1446Ser) c.*1804G>C (n.*1804G>C) n.1996G>C n.680G>C c.*545G>C (n.*545G>C) c.4289G>C (p.Cys1430Ser) n.9469G>C n.2934G>C c.5129G>C (p.Cys1710Ser) c.5213G>C (p.Cys1738Ser) c.5261G>C (p.Cys1754Ser) c.4235G>C (p.Cys1412Ser) c.3816G>C c.3377G>C (p.Cys1126Ser) c.*1194G>C (n.*1194G>C) c.4530G>C c.4106G>C (p.Cys1369Ser) c.5303G>C (p.Cys1768Ser) c.5300G>C (p.Cys1767Ser) c.5255G>C (p.Cys1752Ser) c.4379G>C (p.Cys1460Ser) c.4148G>C (p.Cys1383Ser) | gnomAD v4 |
| 10 | g.94298472G= | CA1928998406 | PLCE1 | c.4337G= (p.Cys1446=) c.*1804G= (n.*1804G=) n.1996G= n.680G= c.*545G= (n.*545G=) c.4289G= (p.Cys1430=) n.9469G= n.2934G= c.5129G= (p.Cys1710=) c.5213G= (p.Cys1738=) c.5261G= (p.Cys1754=) c.4235G= (p.Cys1412=) c.3816G= c.3377G= (p.Cys1126=) c.*1194G= (n.*1194G=) c.4530G= c.4106G= (p.Cys1369=) c.5303G= (p.Cys1768=) c.5300G= (p.Cys1767=) c.5255G= (p.Cys1752=) c.4379G= (p.Cys1460=) c.4148G= (p.Cys1383=) | |
| 10 | g.94298472G>T | CA377641849 | PLCE1 | c.4337G>T (p.Cys1446Phe) c.*1804G>T (n.*1804G>T) n.1996G>T n.680G>T c.*545G>T (n.*545G>T) c.4289G>T (p.Cys1430Phe) n.9469G>T n.2934G>T c.5129G>T (p.Cys1710Phe) c.5213G>T (p.Cys1738Phe) c.5261G>T (p.Cys1754Phe) c.4235G>T (p.Cys1412Phe) c.3816G>T c.3377G>T (p.Cys1126Phe) c.*1194G>T (n.*1194G>T) c.4530G>T c.4106G>T (p.Cys1369Phe) c.5303G>T (p.Cys1768Phe) c.5300G>T (p.Cys1767Phe) c.5255G>T (p.Cys1752Phe) c.4379G>T (p.Cys1460Phe) c.4148G>T (p.Cys1383Phe) | |
| 10 | g.94298473T>A | CA377641850 | PLCE1 | c.4338T>A (p.Cys1446Ter) c.*1805T>A (n.*1805T>A) n.1997T>A n.681T>A c.*546T>A (n.*546T>A) c.4290T>A (p.Cys1430Ter) n.9470T>A n.2935T>A c.5130T>A (p.Cys1710Ter) c.5214T>A (p.Cys1738Ter) c.5262T>A (p.Cys1754Ter) c.4236T>A (p.Cys1412Ter) c.3817T>A c.3378T>A (p.Cys1126Ter) c.*1195T>A (n.*1195T>A) c.4531T>A c.4107T>A (p.Cys1369Ter) c.5304T>A (p.Cys1768Ter) c.5301T>A (p.Cys1767Ter) c.5256T>A (p.Cys1752Ter) c.4380T>A (p.Cys1460Ter) c.4149T>A (p.Cys1383Ter) | |
| 10 | g.94298473T>C | CA470986480 | PLCE1 | c.4338T>C (p.Cys1446=) c.*1805T>C (n.*1805T>C) n.1997T>C n.681T>C c.*546T>C (n.*546T>C) c.4290T>C (p.Cys1430=) n.9470T>C n.2935T>C c.5130T>C (p.Cys1710=) c.5214T>C (p.Cys1738=) c.5262T>C (p.Cys1754=) c.4236T>C (p.Cys1412=) c.3817T>C c.3378T>C (p.Cys1126=) c.*1195T>C (n.*1195T>C) c.4531T>C c.4107T>C (p.Cys1369=) c.5304T>C (p.Cys1768=) c.5301T>C (p.Cys1767=) c.5256T>C (p.Cys1752=) c.4380T>C (p.Cys1460=) c.4149T>C (p.Cys1383=) | |
| 10 | g.94298473T>G | CA377641851 | PLCE1 | c.4338T>G (p.Cys1446Trp) c.*1805T>G (n.*1805T>G) n.1997T>G n.681T>G c.*546T>G (n.*546T>G) c.4290T>G (p.Cys1430Trp) n.9470T>G n.2935T>G c.5130T>G (p.Cys1710Trp) c.5214T>G (p.Cys1738Trp) c.5262T>G (p.Cys1754Trp) c.4236T>G (p.Cys1412Trp) c.3817T>G c.3378T>G (p.Cys1126Trp) c.*1195T>G (n.*1195T>G) c.4531T>G c.4107T>G (p.Cys1369Trp) c.5304T>G (p.Cys1768Trp) c.5301T>G (p.Cys1767Trp) c.5256T>G (p.Cys1752Trp) c.4380T>G (p.Cys1460Trp) c.4149T>G (p.Cys1383Trp) | |
| 10 | g.94298474T>A | CA377641852 | PLCE1 | c.4339T>A (p.Tyr1447Asn) c.*1806T>A (n.*1806T>A) n.1998T>A n.682T>A c.*547T>A (n.*547T>A) c.4291T>A (p.Tyr1431Asn) n.9471T>A n.2936T>A c.5131T>A (p.Tyr1711Asn) c.5215T>A (p.Tyr1739Asn) c.5263T>A (p.Tyr1755Asn) c.4237T>A (p.Tyr1413Asn) c.3818T>A c.3379T>A (p.Tyr1127Asn) c.*1196T>A (n.*1196T>A) c.4532T>A c.4108T>A (p.Tyr1370Asn) c.5305T>A (p.Tyr1769Asn) c.5302T>A (p.Tyr1768Asn) c.5257T>A (p.Tyr1753Asn) c.4381T>A (p.Tyr1461Asn) c.4150T>A (p.Tyr1384Asn) | |
| 10 | g.94298474T>C | CA377641853 | PLCE1 | c.4339T>C (p.Tyr1447His) c.*1806T>C (n.*1806T>C) n.1998T>C n.682T>C c.*547T>C (n.*547T>C) c.4291T>C (p.Tyr1431His) n.9471T>C n.2936T>C c.5131T>C (p.Tyr1711His) c.5215T>C (p.Tyr1739His) c.5263T>C (p.Tyr1755His) c.4237T>C (p.Tyr1413His) c.3818T>C c.3379T>C (p.Tyr1127His) c.*1196T>C (n.*1196T>C) c.4532T>C c.4108T>C (p.Tyr1370His) c.5305T>C (p.Tyr1769His) c.5302T>C (p.Tyr1768His) c.5257T>C (p.Tyr1753His) c.4381T>C (p.Tyr1461His) c.4150T>C (p.Tyr1384His) | |
| 10 | g.94298474T>G | CA377641854 | PLCE1 | c.4339T>G (p.Tyr1447Asp) c.*1806T>G (n.*1806T>G) n.1998T>G n.682T>G c.*547T>G (n.*547T>G) c.4291T>G (p.Tyr1431Asp) n.9471T>G n.2936T>G c.5131T>G (p.Tyr1711Asp) c.5215T>G (p.Tyr1739Asp) c.5263T>G (p.Tyr1755Asp) c.4237T>G (p.Tyr1413Asp) c.3818T>G c.3379T>G (p.Tyr1127Asp) c.*1196T>G (n.*1196T>G) c.4532T>G c.4108T>G (p.Tyr1370Asp) c.5305T>G (p.Tyr1769Asp) c.5302T>G (p.Tyr1768Asp) c.5257T>G (p.Tyr1753Asp) c.4381T>G (p.Tyr1461Asp) c.4150T>G (p.Tyr1384Asp) | |
| 10 | g.94298475A>C | CA377641855 | PLCE1 | c.4340A>C (p.Tyr1447Ser) c.*1807A>C (n.*1807A>C) n.1999A>C n.683A>C c.*548A>C (n.*548A>C) c.4292A>C (p.Tyr1431Ser) n.9472A>C n.2937A>C c.5132A>C (p.Tyr1711Ser) c.5216A>C (p.Tyr1739Ser) c.5264A>C (p.Tyr1755Ser) c.4238A>C (p.Tyr1413Ser) c.3819A>C c.3380A>C (p.Tyr1127Ser) c.*1197A>C (n.*1197A>C) c.4533A>C c.4109A>C (p.Tyr1370Ser) c.5306A>C (p.Tyr1769Ser) c.5303A>C (p.Tyr1768Ser) c.5258A>C (p.Tyr1753Ser) c.4382A>C (p.Tyr1461Ser) c.4151A>C (p.Tyr1384Ser) | |
| 10 | g.94298475A>G | CA377641856 | PLCE1 | c.4340A>G (p.Tyr1447Cys) c.*1807A>G (n.*1807A>G) n.1999A>G n.683A>G c.*548A>G (n.*548A>G) c.4292A>G (p.Tyr1431Cys) n.9472A>G n.2937A>G c.5132A>G (p.Tyr1711Cys) c.5216A>G (p.Tyr1739Cys) c.5264A>G (p.Tyr1755Cys) c.4238A>G (p.Tyr1413Cys) c.3819A>G c.3380A>G (p.Tyr1127Cys) c.*1197A>G (n.*1197A>G) c.4533A>G c.4109A>G (p.Tyr1370Cys) c.5306A>G (p.Tyr1769Cys) c.5303A>G (p.Tyr1768Cys) c.5258A>G (p.Tyr1753Cys) c.4382A>G (p.Tyr1461Cys) c.4151A>G (p.Tyr1384Cys) | gnomAD v4 |
| 10 | g.94298475A>T | CA377641857 | PLCE1 | c.4340A>T (p.Tyr1447Phe) c.*1807A>T (n.*1807A>T) n.1999A>T n.683A>T c.*548A>T (n.*548A>T) c.4292A>T (p.Tyr1431Phe) n.9472A>T n.2937A>T c.5132A>T (p.Tyr1711Phe) c.5216A>T (p.Tyr1739Phe) c.5264A>T (p.Tyr1755Phe) c.4238A>T (p.Tyr1413Phe) c.3819A>T c.3380A>T (p.Tyr1127Phe) c.*1197A>T (n.*1197A>T) c.4533A>T c.4109A>T (p.Tyr1370Phe) c.5306A>T (p.Tyr1769Phe) c.5303A>T (p.Tyr1768Phe) c.5258A>T (p.Tyr1753Phe) c.4382A>T (p.Tyr1461Phe) c.4151A>T (p.Tyr1384Phe) | |
| 10 | g.94298476T>A | CA377641858 | PLCE1 | c.4341T>A (p.Tyr1447Ter) c.*1808T>A (n.*1808T>A) n.2000T>A n.684T>A c.*549T>A (n.*549T>A) c.4293T>A (p.Tyr1431Ter) n.9473T>A n.2938T>A c.5133T>A (p.Tyr1711Ter) c.5217T>A (p.Tyr1739Ter) c.5265T>A (p.Tyr1755Ter) c.4239T>A (p.Tyr1413Ter) c.3820T>A c.3381T>A (p.Tyr1127Ter) c.*1198T>A (n.*1198T>A) c.4534T>A c.4110T>A (p.Tyr1370Ter) c.5307T>A (p.Tyr1769Ter) c.5304T>A (p.Tyr1768Ter) c.5259T>A (p.Tyr1753Ter) c.4383T>A (p.Tyr1461Ter) c.4152T>A (p.Tyr1384Ter) | |
| 10 | g.94298476T>C | CA470986481 | PLCE1 | c.4341T>C (p.Tyr1447=) c.*1808T>C (n.*1808T>C) n.2000T>C n.684T>C c.*549T>C (n.*549T>C) c.4293T>C (p.Tyr1431=) n.9473T>C n.2938T>C c.5133T>C (p.Tyr1711=) c.5217T>C (p.Tyr1739=) c.5265T>C (p.Tyr1755=) c.4239T>C (p.Tyr1413=) c.3820T>C c.3381T>C (p.Tyr1127=) c.*1198T>C (n.*1198T>C) c.4534T>C c.4110T>C (p.Tyr1370=) c.5307T>C (p.Tyr1769=) c.5304T>C (p.Tyr1768=) c.5259T>C (p.Tyr1753=) c.4383T>C (p.Tyr1461=) c.4152T>C (p.Tyr1384=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.94298476T>G | CA377641859 | PLCE1 | c.4341T>G (p.Tyr1447Ter) c.*1808T>G (n.*1808T>G) n.2000T>G n.684T>G c.*549T>G (n.*549T>G) c.4293T>G (p.Tyr1431Ter) n.9473T>G n.2938T>G c.5133T>G (p.Tyr1711Ter) c.5217T>G (p.Tyr1739Ter) c.5265T>G (p.Tyr1755Ter) c.4239T>G (p.Tyr1413Ter) c.3820T>G c.3381T>G (p.Tyr1127Ter) c.*1198T>G (n.*1198T>G) c.4534T>G c.4110T>G (p.Tyr1370Ter) c.5307T>G (p.Tyr1769Ter) c.5304T>G (p.Tyr1768Ter) c.5259T>G (p.Tyr1753Ter) c.4383T>G (p.Tyr1461Ter) c.4152T>G (p.Tyr1384Ter) | |
| 10 | g.94298476T= | CA1928998407 | PLCE1 | c.4341T= (p.Tyr1447=) c.*1808T= (n.*1808T=) n.2000T= n.684T= c.*549T= (n.*549T=) c.4293T= (p.Tyr1431=) n.9473T= n.2938T= c.5133T= (p.Tyr1711=) c.5217T= (p.Tyr1739=) c.5265T= (p.Tyr1755=) c.4239T= (p.Tyr1413=) c.3820T= c.3381T= (p.Tyr1127=) c.*1198T= (n.*1198T=) c.4534T= c.4110T= (p.Tyr1370=) c.5307T= (p.Tyr1769=) c.5304T= (p.Tyr1768=) c.5259T= (p.Tyr1753=) c.4383T= (p.Tyr1461=) c.4152T= (p.Tyr1384=) |