Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.94298457T>ACA377641813PLCE1c.4322T>A (p.Ile1441Asn)
c.*1789T>A (n.*1789T>A)
n.1981T>A
n.665T>A
c.*530T>A (n.*530T>A)
c.4274T>A (p.Ile1425Asn)
n.9454T>A
n.2919T>A
c.5114T>A (p.Ile1705Asn)
c.5198T>A (p.Ile1733Asn)
c.5246T>A (p.Ile1749Asn)
c.4220T>A (p.Ile1407Asn)
c.3801T>A
c.3362T>A (p.Ile1121Asn)
c.*1179T>A (n.*1179T>A)
c.4515T>A
c.4091T>A (p.Ile1364Asn)
c.5288T>A (p.Ile1763Asn)
c.5285T>A (p.Ile1762Asn)
c.5240T>A (p.Ile1747Asn)
c.4364T>A (p.Ile1455Asn)
c.4133T>A (p.Ile1378Asn)
10g.94298457T>CCA377641814PLCE1c.4322T>C (p.Ile1441Thr)
c.*1789T>C (n.*1789T>C)
n.1981T>C
n.665T>C
c.*530T>C (n.*530T>C)
c.4274T>C (p.Ile1425Thr)
n.9454T>C
n.2919T>C
c.5114T>C (p.Ile1705Thr)
c.5198T>C (p.Ile1733Thr)
c.5246T>C (p.Ile1749Thr)
c.4220T>C (p.Ile1407Thr)
c.3801T>C
c.3362T>C (p.Ile1121Thr)
c.*1179T>C (n.*1179T>C)
c.4515T>C
c.4091T>C (p.Ile1364Thr)
c.5288T>C (p.Ile1763Thr)
c.5285T>C (p.Ile1762Thr)
c.5240T>C (p.Ile1747Thr)
c.4364T>C (p.Ile1455Thr)
c.4133T>C (p.Ile1378Thr)
10g.94298457T>GCA377641815PLCE1c.4322T>G (p.Ile1441Ser)
c.*1789T>G (n.*1789T>G)
n.1981T>G
n.665T>G
c.*530T>G (n.*530T>G)
c.4274T>G (p.Ile1425Ser)
n.9454T>G
n.2919T>G
c.5114T>G (p.Ile1705Ser)
c.5198T>G (p.Ile1733Ser)
c.5246T>G (p.Ile1749Ser)
c.4220T>G (p.Ile1407Ser)
c.3801T>G
c.3362T>G (p.Ile1121Ser)
c.*1179T>G (n.*1179T>G)
c.4515T>G
c.4091T>G (p.Ile1364Ser)
c.5288T>G (p.Ile1763Ser)
c.5285T>G (p.Ile1762Ser)
c.5240T>G (p.Ile1747Ser)
c.4364T>G (p.Ile1455Ser)
c.4133T>G (p.Ile1378Ser)
10g.94298458T>ACA470986465PLCE1c.4323T>A (p.Ile1441=)
c.*1790T>A (n.*1790T>A)
n.1982T>A
n.666T>A
c.*531T>A (n.*531T>A)
c.4275T>A (p.Ile1425=)
n.9455T>A
n.2920T>A
c.5115T>A (p.Ile1705=)
c.5199T>A (p.Ile1733=)
c.5247T>A (p.Ile1749=)
c.4221T>A (p.Ile1407=)
c.3802T>A
c.3363T>A (p.Ile1121=)
c.*1180T>A (n.*1180T>A)
c.4516T>A
c.4092T>A (p.Ile1364=)
c.5289T>A (p.Ile1763=)
c.5286T>A (p.Ile1762=)
c.5241T>A (p.Ile1747=)
c.4365T>A (p.Ile1455=)
c.4134T>A (p.Ile1378=)
10g.94298458T>CCA470986466PLCE1c.4323T>C (p.Ile1441=)
c.*1790T>C (n.*1790T>C)
n.1982T>C
n.666T>C
c.*531T>C (n.*531T>C)
c.4275T>C (p.Ile1425=)
n.9455T>C
n.2920T>C
c.5115T>C (p.Ile1705=)
c.5199T>C (p.Ile1733=)
c.5247T>C (p.Ile1749=)
c.4221T>C (p.Ile1407=)
c.3802T>C
c.3363T>C (p.Ile1121=)
c.*1180T>C (n.*1180T>C)
c.4516T>C
c.4092T>C (p.Ile1364=)
c.5289T>C (p.Ile1763=)
c.5286T>C (p.Ile1762=)
c.5241T>C (p.Ile1747=)
c.4365T>C (p.Ile1455=)
c.4134T>C (p.Ile1378=)
10g.94298458T>GCA377641816PLCE1c.4323T>G (p.Ile1441Met)
c.*1790T>G (n.*1790T>G)
n.1982T>G
n.666T>G
c.*531T>G (n.*531T>G)
c.4275T>G (p.Ile1425Met)
n.9455T>G
n.2920T>G
c.5115T>G (p.Ile1705Met)
c.5199T>G (p.Ile1733Met)
c.5247T>G (p.Ile1749Met)
c.4221T>G (p.Ile1407Met)
c.3802T>G
c.3363T>G (p.Ile1121Met)
c.*1180T>G (n.*1180T>G)
c.4516T>G
c.4092T>G (p.Ile1364Met)
c.5289T>G (p.Ile1763Met)
c.5286T>G (p.Ile1762Met)
c.5241T>G (p.Ile1747Met)
c.4365T>G (p.Ile1455Met)
c.4134T>G (p.Ile1378Met)
10g.94298459A>CCA470986467PLCE1c.4324A>C (p.Arg1442=)
c.*1791A>C (n.*1791A>C)
n.1983A>C
n.667A>C
c.*532A>C (n.*532A>C)
c.4276A>C (p.Arg1426=)
n.9456A>C
n.2921A>C
c.5116A>C (p.Arg1706=)
c.5200A>C (p.Arg1734=)
c.5248A>C (p.Arg1750=)
c.4222A>C (p.Arg1408=)
c.3803A>C
c.3364A>C (p.Arg1122=)
c.*1181A>C (n.*1181A>C)
c.4517A>C
c.4093A>C (p.Arg1365=)
c.5290A>C (p.Arg1764=)
c.5287A>C (p.Arg1763=)
c.5242A>C (p.Arg1748=)
c.4366A>C (p.Arg1456=)
c.4135A>C (p.Arg1379=)
10g.94298459A>GCA377641817PLCE1c.4324A>G (p.Arg1442Gly)
c.*1791A>G (n.*1791A>G)
n.1983A>G
n.667A>G
c.*532A>G (n.*532A>G)
c.4276A>G (p.Arg1426Gly)
n.9456A>G
n.2921A>G
c.5116A>G (p.Arg1706Gly)
c.5200A>G (p.Arg1734Gly)
c.5248A>G (p.Arg1750Gly)
c.4222A>G (p.Arg1408Gly)
c.3803A>G
c.3364A>G (p.Arg1122Gly)
c.*1181A>G (n.*1181A>G)
c.4517A>G
c.4093A>G (p.Arg1365Gly)
c.5290A>G (p.Arg1764Gly)
c.5287A>G (p.Arg1763Gly)
c.5242A>G (p.Arg1748Gly)
c.4366A>G (p.Arg1456Gly)
c.4135A>G (p.Arg1379Gly)
10g.94298459A>TCA377641818PLCE1c.4324A>T (p.Arg1442Ter)
c.*1791A>T (n.*1791A>T)
n.1983A>T
n.667A>T
c.*532A>T (n.*532A>T)
c.4276A>T (p.Arg1426Ter)
n.9456A>T
n.2921A>T
c.5116A>T (p.Arg1706Ter)
c.5200A>T (p.Arg1734Ter)
c.5248A>T (p.Arg1750Ter)
c.4222A>T (p.Arg1408Ter)
c.3803A>T
c.3364A>T (p.Arg1122Ter)
c.*1181A>T (n.*1181A>T)
c.4517A>T
c.4093A>T (p.Arg1365Ter)
c.5290A>T (p.Arg1764Ter)
c.5287A>T (p.Arg1763Ter)
c.5242A>T (p.Arg1748Ter)
c.4366A>T (p.Arg1456Ter)
c.4135A>T (p.Arg1379Ter)
10g.94298460G>ACA377641819PLCE1c.4325G>A (p.Arg1442Lys)
c.*1792G>A (n.*1792G>A)
n.1984G>A
n.668G>A
c.*533G>A (n.*533G>A)
c.4277G>A (p.Arg1426Lys)
n.9457G>A
n.2922G>A
c.5117G>A (p.Arg1706Lys)
c.5201G>A (p.Arg1734Lys)
c.5249G>A (p.Arg1750Lys)
c.4223G>A (p.Arg1408Lys)
c.3804G>A
c.3365G>A (p.Arg1122Lys)
c.*1182G>A (n.*1182G>A)
c.4518G>A
c.4094G>A (p.Arg1365Lys)
c.5291G>A (p.Arg1764Lys)
c.5288G>A (p.Arg1763Lys)
c.5243G>A (p.Arg1748Lys)
c.4367G>A (p.Arg1456Lys)
c.4136G>A (p.Arg1379Lys)
10g.94298460G>CCA377641820PLCE1c.4325G>C (p.Arg1442Thr)
c.*1792G>C (n.*1792G>C)
n.1984G>C
n.668G>C
c.*533G>C (n.*533G>C)
c.4277G>C (p.Arg1426Thr)
n.9457G>C
n.2922G>C
c.5117G>C (p.Arg1706Thr)
c.5201G>C (p.Arg1734Thr)
c.5249G>C (p.Arg1750Thr)
c.4223G>C (p.Arg1408Thr)
c.3804G>C
c.3365G>C (p.Arg1122Thr)
c.*1182G>C (n.*1182G>C)
c.4518G>C
c.4094G>C (p.Arg1365Thr)
c.5291G>C (p.Arg1764Thr)
c.5288G>C (p.Arg1763Thr)
c.5243G>C (p.Arg1748Thr)
c.4367G>C (p.Arg1456Thr)
c.4136G>C (p.Arg1379Thr)
10g.94298460G>TCA377641821PLCE1c.4325G>T (p.Arg1442Ile)
c.*1792G>T (n.*1792G>T)
n.1984G>T
n.668G>T
c.*533G>T (n.*533G>T)
c.4277G>T (p.Arg1426Ile)
n.9457G>T
n.2922G>T
c.5117G>T (p.Arg1706Ile)
c.5201G>T (p.Arg1734Ile)
c.5249G>T (p.Arg1750Ile)
c.4223G>T (p.Arg1408Ile)
c.3804G>T
c.3365G>T (p.Arg1122Ile)
c.*1182G>T (n.*1182G>T)
c.4518G>T
c.4094G>T (p.Arg1365Ile)
c.5291G>T (p.Arg1764Ile)
c.5288G>T (p.Arg1763Ile)
c.5243G>T (p.Arg1748Ile)
c.4367G>T (p.Arg1456Ile)
c.4136G>T (p.Arg1379Ile)
10g.94298461A>CCA377641822PLCE1c.4326A>C (p.Arg1442Ser)
c.*1793A>C (n.*1793A>C)
n.1985A>C
n.669A>C
c.*534A>C (n.*534A>C)
c.4278A>C (p.Arg1426Ser)
n.9458A>C
n.2923A>C
c.5118A>C (p.Arg1706Ser)
c.5202A>C (p.Arg1734Ser)
c.5250A>C (p.Arg1750Ser)
c.4224A>C (p.Arg1408Ser)
c.3805A>C
c.3366A>C (p.Arg1122Ser)
c.*1183A>C (n.*1183A>C)
c.4519A>C
c.4095A>C (p.Arg1365Ser)
c.5292A>C (p.Arg1764Ser)
c.5289A>C (p.Arg1763Ser)
c.5244A>C (p.Arg1748Ser)
c.4368A>C (p.Arg1456Ser)
c.4137A>C (p.Arg1379Ser)
10g.94298461A>GCA470986468PLCE1c.4326A>G (p.Arg1442=)
c.*1793A>G (n.*1793A>G)
n.1985A>G
n.669A>G
c.*534A>G (n.*534A>G)
c.4278A>G (p.Arg1426=)
n.9458A>G
n.2923A>G
c.5118A>G (p.Arg1706=)
c.5202A>G (p.Arg1734=)
c.5250A>G (p.Arg1750=)
c.4224A>G (p.Arg1408=)
c.3805A>G
c.3366A>G (p.Arg1122=)
c.*1183A>G (n.*1183A>G)
c.4519A>G
c.4095A>G (p.Arg1365=)
c.5292A>G (p.Arg1764=)
c.5289A>G (p.Arg1763=)
c.5244A>G (p.Arg1748=)
c.4368A>G (p.Arg1456=)
c.4137A>G (p.Arg1379=)
10g.94298461A>TCA377641823PLCE1c.4326A>T (p.Arg1442Ser)
c.*1793A>T (n.*1793A>T)
n.1985A>T
n.669A>T
c.*534A>T (n.*534A>T)
c.4278A>T (p.Arg1426Ser)
n.9458A>T
n.2923A>T
c.5118A>T (p.Arg1706Ser)
c.5202A>T (p.Arg1734Ser)
c.5250A>T (p.Arg1750Ser)
c.4224A>T (p.Arg1408Ser)
c.3805A>T
c.3366A>T (p.Arg1122Ser)
c.*1183A>T (n.*1183A>T)
c.4519A>T
c.4095A>T (p.Arg1365Ser)
c.5292A>T (p.Arg1764Ser)
c.5289A>T (p.Arg1763Ser)
c.5244A>T (p.Arg1748Ser)
c.4368A>T (p.Arg1456Ser)
c.4137A>T (p.Arg1379Ser)
10g.94298462A>CCA377641826PLCE1c.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)
10g.94298462A>GCA377641825PLCE1c.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)
10g.94298462A>TCA377641824PLCE1c.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)
10g.94298463C>ACA377641827PLCE1c.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)
10g.94298463C=CA1928998403PLCE1c.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=)
10g.94298463C>GCA377641829PLCE1c.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)
10g.94298463C>TCA377641828PLCE1c.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
10g.94298464T>ACA470986472PLCE1c.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=)
10g.94298464T>CCA470986473PLCE1c.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
10g.94298464T>GCA470986474PLCE1c.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=)
10g.94298464T=CA1928998404PLCE1c.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=)
10g.94298465C>ACA377641830PLCE1c.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)
10g.94298465C>GCA377641831PLCE1c.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)
10g.94298465C>TCA377641832PLCE1c.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)
10g.94298466C>ACA377641833PLCE1c.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)
10g.94298466C>GCA377641834PLCE1c.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)
10g.94298466C>TCA377641835PLCE1c.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)
10g.94298467C>ACA470986475PLCE1c.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=)
10g.94298467C>GCA470986476PLCE1c.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=)
10g.94298467C>TCA470986477PLCE1c.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=)
10g.94298468A>CCA377641838PLCE1c.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)
10g.94298468A>GCA377641836PLCE1c.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)
10g.94298468A>TCA377641837PLCE1c.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)
10g.94298469A=CA1928998405PLCE1c.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=)
10g.94298469A>CCA377641839PLCE1c.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)
10g.94298469A>GCA377641840PLCE1c.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
10g.94298469A>TCA377641841PLCE1c.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)
10g.94298470A>CCA377641842PLCE1c.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)
10g.94298470A>GCA470986479PLCE1c.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=)
10g.94298470A>TCA377641843PLCE1c.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)
10g.94298471T>ACA377641846PLCE1c.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)
10g.94298471T>CCA377641844PLCE1c.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)
10g.94298471T>GCA377641845PLCE1c.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)
10g.94298472G>ACA377641847PLCE1c.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
10g.94298472G>CCA377641848PLCE1c.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
10g.94298472G=CA1928998406PLCE1c.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=)
10g.94298472G>TCA377641849PLCE1c.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)
10g.94298473T>ACA377641850PLCE1c.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)
10g.94298473T>CCA470986480PLCE1c.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=)
10g.94298473T>GCA377641851PLCE1c.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)
10g.94298474T>ACA377641852PLCE1c.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)
10g.94298474T>CCA377641853PLCE1c.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)
10g.94298474T>GCA377641854PLCE1c.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)
10g.94298475A>CCA377641855PLCE1c.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)
10g.94298475A>GCA377641856PLCE1c.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
10g.94298475A>TCA377641857PLCE1c.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)
10g.94298476T>ACA377641858PLCE1c.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)
10g.94298476T>CCA470986481PLCE1c.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
10g.94298476T>GCA377641859PLCE1c.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)
10g.94298476T=CA1928998407PLCE1c.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=)
10g.94298477C>ACA377641860PLCE1c.4342C>A (p.His1448Asn)
c.*1809C>A (n.*1809C>A)
n.2001C>A
n.685C>A
c.*550C>A (n.*550C>A)
c.4294C>A (p.His1432Asn)
n.9474C>A
n.2939C>A
c.5134C>A (p.His1712Asn)
c.5218C>A (p.His1740Asn)
c.5266C>A (p.His1756Asn)
c.4240C>A (p.His1414Asn)
c.3821C>A
c.3382C>A (p.His1128Asn)
c.*1199C>A (n.*1199C>A)
c.4535C>A
c.4111C>A
c.5308C>A (p.His1770Asn)
c.5305C>A (p.His1769Asn)
c.5260C>A (p.His1754Asn)
c.4384C>A (p.His1462Asn)
c.4153C>A (p.His1385Asn)
COSMIC COSMIC COSMIC COSMIC
10g.94298477C>GCA377641862PLCE1c.4342C>G (p.His1448Asp)
c.*1809C>G (n.*1809C>G)
n.2001C>G
n.685C>G
c.*550C>G (n.*550C>G)
c.4294C>G (p.His1432Asp)
n.9474C>G
n.2939C>G
c.5134C>G (p.His1712Asp)
c.5218C>G (p.His1740Asp)
c.5266C>G (p.His1756Asp)
c.4240C>G (p.His1414Asp)
c.3821C>G
c.3382C>G (p.His1128Asp)
c.*1199C>G (n.*1199C>G)
c.4535C>G
c.4111C>G
c.5308C>G (p.His1770Asp)
c.5305C>G (p.His1769Asp)
c.5260C>G (p.His1754Asp)
c.4384C>G (p.His1462Asp)
c.4153C>G (p.His1385Asp)
10g.94298477C>TCA377641861PLCE1c.4342C>T (p.His1448Tyr)
c.*1809C>T (n.*1809C>T)
n.2001C>T
n.685C>T
c.*550C>T (n.*550C>T)
c.4294C>T (p.His1432Tyr)
n.9474C>T
n.2939C>T
c.5134C>T (p.His1712Tyr)
c.5218C>T (p.His1740Tyr)
c.5266C>T (p.His1756Tyr)
c.4240C>T (p.His1414Tyr)
c.3821C>T
c.3382C>T (p.His1128Tyr)
c.*1199C>T (n.*1199C>T)
c.4535C>T
c.4111C>T
c.5308C>T (p.His1770Tyr)
c.5305C>T (p.His1769Tyr)
c.5260C>T (p.His1754Tyr)
c.4384C>T (p.His1462Tyr)
c.4153C>T (p.His1385Tyr)
10g.94298478A=CA1928998408PLCE1c.4343A= (p.His1448=)
c.*1810A= (n.*1810A=)
n.2002A=
n.686A=
c.*551A= (n.*551A=)
c.4295A= (p.His1432=)
n.9475A=
n.2940A=
c.5135A= (p.His1712=)
c.5219A= (p.His1740=)
c.5267A= (p.His1756=)
c.4241A= (p.His1414=)
c.3822A=
c.3383A= (p.His1128=)
c.*1200A= (n.*1200A=)
c.4536A=
c.5309A= (p.His1770=)
c.5306A= (p.His1769=)
c.5261A= (p.His1754=)
c.4385A= (p.His1462=)
c.4154A= (p.His1385=)
10g.94298478A>CCA377641863PLCE1c.4343A>C (p.His1448Pro)
c.*1810A>C (n.*1810A>C)
n.2002A>C
n.686A>C
c.*551A>C (n.*551A>C)
c.4295A>C (p.His1432Pro)
n.9475A>C
n.2940A>C
c.5135A>C (p.His1712Pro)
c.5219A>C (p.His1740Pro)
c.5267A>C (p.His1756Pro)
c.4241A>C (p.His1414Pro)
c.3822A>C
c.3383A>C (p.His1128Pro)
c.*1200A>C (n.*1200A>C)
c.4536A>C
c.5309A>C (p.His1770Pro)
c.5306A>C (p.His1769Pro)
c.5261A>C (p.His1754Pro)
c.4385A>C (p.His1462Pro)
c.4154A>C (p.His1385Pro)
10g.94298478A>GCA5613324PLCE1c.4343A>G (p.His1448Arg)
c.*1810A>G (n.*1810A>G)
n.2002A>G
n.686A>G
c.*551A>G (n.*551A>G)
c.4295A>G (p.His1432Arg)
n.9475A>G
n.2940A>G
c.5135A>G (p.His1712Arg)
c.5219A>G (p.His1740Arg)
c.5267A>G (p.His1756Arg)
c.4241A>G (p.His1414Arg)
c.3822A>G
c.3383A>G (p.His1128Arg)
c.*1200A>G (n.*1200A>G)
c.4536A>G
c.5309A>G (p.His1770Arg)
c.5306A>G (p.His1769Arg)
c.5261A>G (p.His1754Arg)
c.4385A>G (p.His1462Arg)
c.4154A>G (p.His1385Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298478A>TCA377641864PLCE1c.4343A>T (p.His1448Leu)
c.*1810A>T (n.*1810A>T)
n.2002A>T
n.686A>T
c.*551A>T (n.*551A>T)
c.4295A>T (p.His1432Leu)
n.9475A>T
n.2940A>T
c.5135A>T (p.His1712Leu)
c.5219A>T (p.His1740Leu)
c.5267A>T (p.His1756Leu)
c.4241A>T (p.His1414Leu)
c.3822A>T
c.3383A>T (p.His1128Leu)
c.*1200A>T (n.*1200A>T)
c.4536A>T
c.5309A>T (p.His1770Leu)
c.5306A>T (p.His1769Leu)
c.5261A>T (p.His1754Leu)
c.4385A>T (p.His1462Leu)
c.4154A>T (p.His1385Leu)
10g.94298479T>ACA377641865PLCE1c.4344T>A (p.His1448Gln)
c.*1811T>A (n.*1811T>A)
n.2003T>A
n.687T>A
c.*552T>A (n.*552T>A)
c.4296T>A (p.His1432Gln)
n.9476T>A
n.2941T>A
c.5136T>A (p.His1712Gln)
c.5220T>A (p.His1740Gln)
c.5268T>A (p.His1756Gln)
c.4242T>A (p.His1414Gln)
c.3823T>A
c.3384T>A (p.His1128Gln)
c.*1201T>A (n.*1201T>A)
c.4537T>A
c.5310T>A (p.His1770Gln)
c.5307T>A (p.His1769Gln)
c.5262T>A (p.His1754Gln)
c.4386T>A (p.His1462Gln)
c.4155T>A (p.His1385Gln)
10g.94298479T>CCA470986482PLCE1c.4344T>C (p.His1448=)
c.*1811T>C (n.*1811T>C)
n.2003T>C
n.687T>C
c.*552T>C (n.*552T>C)
c.4296T>C (p.His1432=)
n.9476T>C
n.2941T>C
c.5136T>C (p.His1712=)
c.5220T>C (p.His1740=)
c.5268T>C (p.His1756=)
c.4242T>C (p.His1414=)
c.3823T>C
c.3384T>C (p.His1128=)
c.*1201T>C (n.*1201T>C)
c.4537T>C
c.5310T>C (p.His1770=)
c.5307T>C (p.His1769=)
c.5262T>C (p.His1754=)
c.4386T>C (p.His1462=)
c.4155T>C (p.His1385=)
dbSNP gnomAD v4
10g.94298479T>GCA377641866PLCE1c.4344T>G (p.His1448Gln)
c.*1811T>G (n.*1811T>G)
n.2003T>G
n.687T>G
c.*552T>G (n.*552T>G)
c.4296T>G (p.His1432Gln)
n.9476T>G
n.2941T>G
c.5136T>G (p.His1712Gln)
c.5220T>G (p.His1740Gln)
c.5268T>G (p.His1756Gln)
c.4242T>G (p.His1414Gln)
c.3823T>G
c.3384T>G (p.His1128Gln)
c.*1201T>G (n.*1201T>G)
c.4537T>G
c.5310T>G (p.His1770Gln)
c.5307T>G (p.His1769Gln)
c.5262T>G (p.His1754Gln)
c.4386T>G (p.His1462Gln)
c.4155T>G (p.His1385Gln)
10g.94298479T=CA1928998409PLCE1c.4344T= (p.His1448=)
c.*1811T= (n.*1811T=)
n.2003T=
n.687T=
c.*552T= (n.*552T=)
c.4296T= (p.His1432=)
n.9476T=
n.2941T=
c.5136T= (p.His1712=)
c.5220T= (p.His1740=)
c.5268T= (p.His1756=)
c.4242T= (p.His1414=)
c.3823T=
c.3384T= (p.His1128=)
c.*1201T= (n.*1201T=)
c.4537T=
c.5310T= (p.His1770=)
c.5307T= (p.His1769=)
c.5262T= (p.His1754=)
c.4386T= (p.His1462=)
c.4155T= (p.His1385=)
10g.94298479dupCA2610239639PLCE1c.4344dup (p.Ile1449TyrfsTer6)
c.*1811dup (n.*1811dup)
n.2003dup
n.687dup
c.*552dup (n.*552dup)
c.4296dup (p.Ile1433TyrfsTer6)
n.9476dup
n.2941dup
c.5136dup (p.Ile1713TyrfsTer6)
c.5220dup (p.Ile1741TyrfsTer6)
c.5268dup (p.Ile1757TyrfsTer6)
c.4242dup (p.Ile1415TyrfsTer6)
c.3823dup
c.3384dup (p.Ile1129TyrfsTer6)
c.*1201dup (n.*1201dup)
c.4537dup
c.5310dup (p.Ile1771TyrfsTer6)
c.5307dup (p.Ile1770TyrfsTer6)
c.5262dup (p.Ile1755TyrfsTer6)
c.4386dup (p.Ile1463TyrfsTer6)
c.4155dup (p.Ile1386TyrfsTer6)
gnomAD v4
10g.94298480A>CCA377641867PLCE1c.4345A>C (p.Ile1449Leu)
c.*1812A>C (n.*1812A>C)
n.2004A>C
n.688A>C
c.*553A>C (n.*553A>C)
c.4297A>C (p.Ile1433Leu)
n.9477A>C
n.2942A>C
c.5137A>C (p.Ile1713Leu)
c.5221A>C (p.Ile1741Leu)
c.5269A>C (p.Ile1757Leu)
c.4243A>C (p.Ile1415Leu)
c.3824A>C
c.3385A>C (p.Ile1129Leu)
c.*1202A>C (n.*1202A>C)
c.4538A>C
c.5311A>C (p.Ile1771Leu)
c.5308A>C (p.Ile1770Leu)
c.5263A>C (p.Ile1755Leu)
c.4387A>C (p.Ile1463Leu)
c.4156A>C (p.Ile1386Leu)
10g.94298480A>GCA377641868PLCE1c.4345A>G (p.Ile1449Val)
c.*1812A>G (n.*1812A>G)
n.2004A>G
n.688A>G
c.*553A>G (n.*553A>G)
c.4297A>G (p.Ile1433Val)
n.9477A>G
n.2942A>G
c.5137A>G (p.Ile1713Val)
c.5221A>G (p.Ile1741Val)
c.5269A>G (p.Ile1757Val)
c.4243A>G (p.Ile1415Val)
c.3824A>G
c.3385A>G (p.Ile1129Val)
c.*1202A>G (n.*1202A>G)
c.4538A>G
c.5311A>G (p.Ile1771Val)
c.5308A>G (p.Ile1770Val)
c.5263A>G (p.Ile1755Val)
c.4387A>G (p.Ile1463Val)
c.4156A>G (p.Ile1386Val)
gnomAD v4
10g.94298480A>TCA377641869PLCE1c.4345A>T (p.Ile1449Phe)
c.*1812A>T (n.*1812A>T)
n.2004A>T
n.688A>T
c.*553A>T (n.*553A>T)
c.4297A>T (p.Ile1433Phe)
n.9477A>T
n.2942A>T
c.5137A>T (p.Ile1713Phe)
c.5221A>T (p.Ile1741Phe)
c.5269A>T (p.Ile1757Phe)
c.4243A>T (p.Ile1415Phe)
c.3824A>T
c.3385A>T (p.Ile1129Phe)
c.*1202A>T (n.*1202A>T)
c.4538A>T
c.5311A>T (p.Ile1771Phe)
c.5308A>T (p.Ile1770Phe)
c.5263A>T (p.Ile1755Phe)
c.4387A>T (p.Ile1463Phe)
c.4156A>T (p.Ile1386Phe)
10g.94298481T>ACA377641870PLCE1c.4346T>A (p.Ile1449Asn)
c.*1813T>A (n.*1813T>A)
n.2005T>A
n.689T>A
c.*554T>A (n.*554T>A)
c.4298T>A (p.Ile1433Asn)
n.9478T>A
n.2943T>A
c.5138T>A (p.Ile1713Asn)
c.5222T>A (p.Ile1741Asn)
c.5270T>A (p.Ile1757Asn)
c.4244T>A (p.Ile1415Asn)
c.3825T>A
c.3386T>A (p.Ile1129Asn)
c.*1203T>A (n.*1203T>A)
c.4539T>A
c.5312T>A (p.Ile1771Asn)
c.5309T>A (p.Ile1770Asn)
c.5264T>A (p.Ile1755Asn)
c.4388T>A (p.Ile1463Asn)
c.4157T>A (p.Ile1386Asn)
gnomAD v4
10g.94298481T>CCA377641871PLCE1c.4346T>C (p.Ile1449Thr)
c.*1813T>C (n.*1813T>C)
n.2005T>C
n.689T>C
c.*554T>C (n.*554T>C)
c.4298T>C (p.Ile1433Thr)
n.9478T>C
n.2943T>C
c.5138T>C (p.Ile1713Thr)
c.5222T>C (p.Ile1741Thr)
c.5270T>C (p.Ile1757Thr)
c.4244T>C (p.Ile1415Thr)
c.3825T>C
c.3386T>C (p.Ile1129Thr)
c.*1203T>C (n.*1203T>C)
c.4539T>C
c.5312T>C (p.Ile1771Thr)
c.5309T>C (p.Ile1770Thr)
c.5264T>C (p.Ile1755Thr)
c.4388T>C (p.Ile1463Thr)
c.4157T>C (p.Ile1386Thr)
10g.94298481T>GCA377641872PLCE1c.4346T>G (p.Ile1449Ser)
c.*1813T>G (n.*1813T>G)
n.2005T>G
n.689T>G
c.*554T>G (n.*554T>G)
c.4298T>G (p.Ile1433Ser)
n.9478T>G
n.2943T>G
c.5138T>G (p.Ile1713Ser)
c.5222T>G (p.Ile1741Ser)
c.5270T>G (p.Ile1757Ser)
c.4244T>G (p.Ile1415Ser)
c.3825T>G
c.3386T>G (p.Ile1129Ser)
c.*1203T>G (n.*1203T>G)
c.4539T>G
c.5312T>G (p.Ile1771Ser)
c.5309T>G (p.Ile1770Ser)
c.5264T>G (p.Ile1755Ser)
c.4388T>G (p.Ile1463Ser)
c.4157T>G (p.Ile1386Ser)
10g.94298482C>ACA470986483PLCE1c.4347C>A (p.Ile1449=)
c.*1814C>A (n.*1814C>A)
n.2006C>A
n.690C>A
c.*555C>A (n.*555C>A)
c.4299C>A (p.Ile1433=)
n.9479C>A
n.2944C>A
c.5139C>A (p.Ile1713=)
c.5223C>A (p.Ile1741=)
c.5271C>A (p.Ile1757=)
c.4245C>A (p.Ile1415=)
c.3826C>A
c.3387C>A (p.Ile1129=)
c.*1204C>A (n.*1204C>A)
c.4540C>A
c.5313C>A (p.Ile1771=)
c.5310C>A (p.Ile1770=)
c.5265C>A (p.Ile1755=)
c.4389C>A (p.Ile1463=)
c.4158C>A (p.Ile1386=)
10g.94298482C=CA1928998410PLCE1c.4347C= (p.Ile1449=)
c.*1814C= (n.*1814C=)
n.2006C=
n.690C=
c.*555C= (n.*555C=)
c.4299C= (p.Ile1433=)
n.9479C=
n.2944C=
c.5139C= (p.Ile1713=)
c.5223C= (p.Ile1741=)
c.5271C= (p.Ile1757=)
c.4245C= (p.Ile1415=)
c.3826C=
c.3387C= (p.Ile1129=)
c.*1204C= (n.*1204C=)
c.4540C=
c.5313C= (p.Ile1771=)
c.5310C= (p.Ile1770=)
c.5265C= (p.Ile1755=)
c.4389C= (p.Ile1463=)
c.4158C= (p.Ile1386=)
10g.94298482C>GCA377641873PLCE1c.4347C>G (p.Ile1449Met)
c.*1814C>G (n.*1814C>G)
n.2006C>G
n.690C>G
c.*555C>G (n.*555C>G)
c.4299C>G (p.Ile1433Met)
n.9479C>G
n.2944C>G
c.5139C>G (p.Ile1713Met)
c.5223C>G (p.Ile1741Met)
c.5271C>G (p.Ile1757Met)
c.4245C>G (p.Ile1415Met)
c.3826C>G
c.3387C>G (p.Ile1129Met)
c.*1204C>G (n.*1204C>G)
c.4540C>G
c.5313C>G (p.Ile1771Met)
c.5310C>G (p.Ile1770Met)
c.5265C>G (p.Ile1755Met)
c.4389C>G (p.Ile1463Met)
c.4158C>G (p.Ile1386Met)
10g.94298482C>TCA211599649PLCE1c.4347C>T (p.Ile1449=)
c.*1814C>T (n.*1814C>T)
n.2006C>T
n.690C>T
c.*555C>T (n.*555C>T)
c.4299C>T (p.Ile1433=)
n.9479C>T
n.2944C>T
c.5139C>T (p.Ile1713=)
c.5223C>T (p.Ile1741=)
c.5271C>T (p.Ile1757=)
c.4245C>T (p.Ile1415=)
c.3826C>T
c.3387C>T (p.Ile1129=)
c.*1204C>T (n.*1204C>T)
c.4540C>T
c.5313C>T (p.Ile1771=)
c.5310C>T (p.Ile1770=)
c.5265C>T (p.Ile1755=)
c.4389C>T (p.Ile1463=)
c.4158C>T (p.Ile1386=)
dbSNP
10g.94298483T>ACA377641876PLCE1c.4348T>A (p.Ser1450Thr)
c.*1815T>A (n.*1815T>A)
n.2007T>A
n.691T>A
c.*556T>A (n.*556T>A)
c.4300T>A (p.Ser1434Thr)
n.9480T>A
n.2945T>A
c.5140T>A (p.Ser1714Thr)
c.5224T>A (p.Ser1742Thr)
c.5272T>A (p.Ser1758Thr)
c.4246T>A (p.Ser1416Thr)
c.3827T>A
c.3388T>A (p.Ser1130Thr)
c.*1205T>A (n.*1205T>A)
c.4541T>A
c.5314T>A (p.Ser1772Thr)
c.5311T>A (p.Ser1771Thr)
c.5266T>A (p.Ser1756Thr)
c.4390T>A (p.Ser1464Thr)
c.4159T>A (p.Ser1387Thr)
10g.94298483T>CCA377641874PLCE1c.4348T>C (p.Ser1450Pro)
c.*1815T>C (n.*1815T>C)
n.2007T>C
n.691T>C
c.*556T>C (n.*556T>C)
c.4300T>C (p.Ser1434Pro)
n.9480T>C
n.2945T>C
c.5140T>C (p.Ser1714Pro)
c.5224T>C (p.Ser1742Pro)
c.5272T>C (p.Ser1758Pro)
c.4246T>C (p.Ser1416Pro)
c.3827T>C
c.3388T>C (p.Ser1130Pro)
c.*1205T>C (n.*1205T>C)
c.4541T>C
c.5314T>C (p.Ser1772Pro)
c.5311T>C (p.Ser1771Pro)
c.5266T>C (p.Ser1756Pro)
c.4390T>C (p.Ser1464Pro)
c.4159T>C (p.Ser1387Pro)
10g.94298483T>GCA377641875PLCE1c.4348T>G (p.Ser1450Ala)
c.*1815T>G (n.*1815T>G)
n.2007T>G
n.691T>G
c.*556T>G (n.*556T>G)
c.4300T>G (p.Ser1434Ala)
n.9480T>G
n.2945T>G
c.5140T>G (p.Ser1714Ala)
c.5224T>G (p.Ser1742Ala)
c.5272T>G (p.Ser1758Ala)
c.4246T>G (p.Ser1416Ala)
c.3827T>G
c.3388T>G (p.Ser1130Ala)
c.*1205T>G (n.*1205T>G)
c.4541T>G
c.5314T>G (p.Ser1772Ala)
c.5311T>G (p.Ser1771Ala)
c.5266T>G (p.Ser1756Ala)
c.4390T>G (p.Ser1464Ala)
c.4159T>G (p.Ser1387Ala)
10g.94298484C>ACA377641877PLCE1c.4349C>A (p.Ser1450Ter)
c.*1816C>A (n.*1816C>A)
n.2008C>A
n.692C>A
c.*557C>A (n.*557C>A)
c.4301C>A (p.Ser1434Ter)
n.9481C>A
n.2946C>A
c.5141C>A (p.Ser1714Ter)
c.5225C>A (p.Ser1742Ter)
c.5273C>A (p.Ser1758Ter)
c.4247C>A (p.Ser1416Ter)
c.3828C>A
c.3389C>A (p.Ser1130Ter)
c.*1206C>A (n.*1206C>A)
c.4542C>A
c.5315C>A (p.Ser1772Ter)
c.5312C>A (p.Ser1771Ter)
c.5267C>A (p.Ser1756Ter)
c.4391C>A (p.Ser1464Ter)
c.4160C>A (p.Ser1387Ter)
10g.94298484C>GCA377641878PLCE1c.4349C>G (p.Ser1450Trp)
c.*1816C>G (n.*1816C>G)
n.2008C>G
n.692C>G
c.*557C>G (n.*557C>G)
c.4301C>G (p.Ser1434Trp)
n.9481C>G
n.2946C>G
c.5141C>G (p.Ser1714Trp)
c.5225C>G (p.Ser1742Trp)
c.5273C>G (p.Ser1758Trp)
c.4247C>G (p.Ser1416Trp)
c.3828C>G
c.3389C>G (p.Ser1130Trp)
c.*1206C>G (n.*1206C>G)
c.4542C>G
c.5315C>G (p.Ser1772Trp)
c.5312C>G (p.Ser1771Trp)
c.5267C>G (p.Ser1756Trp)
c.4391C>G (p.Ser1464Trp)
c.4160C>G (p.Ser1387Trp)
10g.94298484C>TCA377641879PLCE1c.4349C>T (p.Ser1450Leu)
c.*1816C>T (n.*1816C>T)
n.2008C>T
n.692C>T
c.*557C>T (n.*557C>T)
c.4301C>T (p.Ser1434Leu)
n.9481C>T
n.2946C>T
c.5141C>T (p.Ser1714Leu)
c.5225C>T (p.Ser1742Leu)
c.5273C>T (p.Ser1758Leu)
c.4247C>T (p.Ser1416Leu)
c.3828C>T
c.3389C>T (p.Ser1130Leu)
c.*1206C>T (n.*1206C>T)
c.4542C>T
c.5315C>T (p.Ser1772Leu)
c.5312C>T (p.Ser1771Leu)
c.5267C>T (p.Ser1756Leu)
c.4391C>T (p.Ser1464Leu)
c.4160C>T (p.Ser1387Leu)
gnomAD v4
10g.94298485G>ACA5613325PLCE1c.4350G>A (p.Ser1450=)
c.*1817G>A (n.*1817G>A)
n.2009G>A
n.693G>A
c.*558G>A (n.*558G>A)
c.4302G>A (p.Ser1434=)
n.9482G>A
n.2947G>A
c.5142G>A (p.Ser1714=)
c.5226G>A (p.Ser1742=)
c.5274G>A (p.Ser1758=)
c.4248G>A (p.Ser1416=)
c.3829G>A
c.3390G>A (p.Ser1130=)
c.*1207G>A (n.*1207G>A)
c.4543G>A
c.5316G>A (p.Ser1772=)
c.5313G>A (p.Ser1771=)
c.5268G>A (p.Ser1756=)
c.4392G>A (p.Ser1464=)
c.4161G>A (p.Ser1387=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298485G>CCA470986490PLCE1c.4350G>C (p.Ser1450=)
c.*1817G>C (n.*1817G>C)
n.2009G>C
n.693G>C
c.*558G>C (n.*558G>C)
c.4302G>C (p.Ser1434=)
n.9482G>C
n.2947G>C
c.5142G>C (p.Ser1714=)
c.5226G>C (p.Ser1742=)
c.5274G>C (p.Ser1758=)
c.4248G>C (p.Ser1416=)
c.3829G>C
c.3390G>C (p.Ser1130=)
c.*1207G>C (n.*1207G>C)
c.4543G>C
c.5316G>C (p.Ser1772=)
c.5313G>C (p.Ser1771=)
c.5268G>C (p.Ser1756=)
c.4392G>C (p.Ser1464=)
c.4161G>C (p.Ser1387=)
gnomAD v4
10g.94298485G=CA1928998411PLCE1c.4350G= (p.Ser1450=)
c.*1817G= (n.*1817G=)
n.2009G=
n.693G=
c.*558G= (n.*558G=)
c.4302G= (p.Ser1434=)
n.9482G=
n.2947G=
c.5142G= (p.Ser1714=)
c.5226G= (p.Ser1742=)
c.5274G= (p.Ser1758=)
c.4248G= (p.Ser1416=)
c.3829G=
c.3390G= (p.Ser1130=)
c.*1207G= (n.*1207G=)
c.4543G=
c.5316G= (p.Ser1772=)
c.5313G= (p.Ser1771=)
c.5268G= (p.Ser1756=)
c.4392G= (p.Ser1464=)
c.4161G= (p.Ser1387=)
10g.94298485G>TCA470986488PLCE1c.4350G>T (p.Ser1450=)
c.*1817G>T (n.*1817G>T)
n.2009G>T
n.693G>T
c.*558G>T (n.*558G>T)
c.4302G>T (p.Ser1434=)
n.9482G>T
n.2947G>T
c.5142G>T (p.Ser1714=)
c.5226G>T (p.Ser1742=)
c.5274G>T (p.Ser1758=)
c.4248G>T (p.Ser1416=)
c.3829G>T
c.3390G>T (p.Ser1130=)
c.*1207G>T (n.*1207G>T)
c.4543G>T
c.5316G>T (p.Ser1772=)
c.5313G>T (p.Ser1771=)
c.5268G>T (p.Ser1756=)
c.4392G>T (p.Ser1464=)
c.4161G>T (p.Ser1387=)
10g.94298486T>ACA377641880PLCE1c.4351T>A (p.Ser1451Thr)
c.*1818T>A (n.*1818T>A)
n.2010T>A
n.694T>A
c.*559T>A (n.*559T>A)
c.4303T>A (p.Ser1435Thr)
n.9483T>A
n.2948T>A
c.5143T>A (p.Ser1715Thr)
c.5227T>A (p.Ser1743Thr)
c.5275T>A (p.Ser1759Thr)
c.4249T>A (p.Ser1417Thr)
c.3830T>A
c.3391T>A (p.Ser1131Thr)
c.*1208T>A (n.*1208T>A)
c.4544T>A
c.5317T>A (p.Ser1773Thr)
c.5314T>A (p.Ser1772Thr)
c.5269T>A (p.Ser1757Thr)
c.4393T>A (p.Ser1465Thr)
c.4162T>A (p.Ser1388Thr)
10g.94298486T>CCA377641881PLCE1c.4351T>C (p.Ser1451Pro)
c.*1818T>C (n.*1818T>C)
n.2010T>C
n.694T>C
c.*559T>C (n.*559T>C)
c.4303T>C (p.Ser1435Pro)
n.9483T>C
n.2948T>C
c.5143T>C (p.Ser1715Pro)
c.5227T>C (p.Ser1743Pro)
c.5275T>C (p.Ser1759Pro)
c.4249T>C (p.Ser1417Pro)
c.3830T>C
c.3391T>C (p.Ser1131Pro)
c.*1208T>C (n.*1208T>C)
c.4544T>C
c.5317T>C (p.Ser1773Pro)
c.5314T>C (p.Ser1772Pro)
c.5269T>C (p.Ser1757Pro)
c.4393T>C (p.Ser1465Pro)
c.4162T>C (p.Ser1388Pro)
10g.94298486T>GCA377641882PLCE1c.4351T>G (p.Ser1451Ala)
c.*1818T>G (n.*1818T>G)
n.2010T>G
n.694T>G
c.*559T>G (n.*559T>G)
c.4303T>G (p.Ser1435Ala)
n.9483T>G
n.2948T>G
c.5143T>G (p.Ser1715Ala)
c.5227T>G (p.Ser1743Ala)
c.5275T>G (p.Ser1759Ala)
c.4249T>G (p.Ser1417Ala)
c.3830T>G
c.3391T>G (p.Ser1131Ala)
c.*1208T>G (n.*1208T>G)
c.4544T>G
c.5317T>G (p.Ser1773Ala)
c.5314T>G (p.Ser1772Ala)
c.5269T>G (p.Ser1757Ala)
c.4393T>G (p.Ser1465Ala)
c.4162T>G (p.Ser1388Ala)
10g.94298487C>ACA377641883PLCE1c.4352C>A (p.Ser1451Ter)
c.*1819C>A (n.*1819C>A)
n.2011C>A
n.695C>A
c.*560C>A (n.*560C>A)
c.4304C>A (p.Ser1435Ter)
n.9484C>A
n.2949C>A
c.5144C>A (p.Ser1715Ter)
c.5228C>A (p.Ser1743Ter)
c.5276C>A (p.Ser1759Ter)
c.4250C>A (p.Ser1417Ter)
c.3831C>A
c.3392C>A (p.Ser1131Ter)
c.*1209C>A (n.*1209C>A)
c.4545C>A
c.5318C>A (p.Ser1773Ter)
c.5315C>A (p.Ser1772Ter)
c.5270C>A (p.Ser1757Ter)
c.4394C>A (p.Ser1465Ter)
c.4163C>A (p.Ser1388Ter)
10g.94298487C=CA1928998412PLCE1c.4352C= (p.Ser1451=)
c.*1819C= (n.*1819C=)
n.2011C=
n.695C=
c.*560C= (n.*560C=)
c.4304C= (p.Ser1435=)
n.9484C=
n.2949C=
c.5144C= (p.Ser1715=)
c.5228C= (p.Ser1743=)
c.5276C= (p.Ser1759=)
c.4250C= (p.Ser1417=)
c.3831C=
c.3392C= (p.Ser1131=)
c.*1209C= (n.*1209C=)
c.4545C=
c.5318C= (p.Ser1773=)
c.5315C= (p.Ser1772=)
c.5270C= (p.Ser1757=)
c.4394C= (p.Ser1465=)
c.4163C= (p.Ser1388=)
10g.94298487C>GCA377641884PLCE1c.4352C>G (p.Ser1451Trp)
c.*1819C>G (n.*1819C>G)
n.2011C>G
n.695C>G
c.*560C>G (n.*560C>G)
c.4304C>G (p.Ser1435Trp)
n.9484C>G
n.2949C>G
c.5144C>G (p.Ser1715Trp)
c.5228C>G (p.Ser1743Trp)
c.5276C>G (p.Ser1759Trp)
c.4250C>G (p.Ser1417Trp)
c.3831C>G
c.3392C>G (p.Ser1131Trp)
c.*1209C>G (n.*1209C>G)
c.4545C>G
c.5318C>G (p.Ser1773Trp)
c.5315C>G (p.Ser1772Trp)
c.5270C>G (p.Ser1757Trp)
c.4394C>G (p.Ser1465Trp)
c.4163C>G (p.Ser1388Trp)
10g.94298487C>TCA5613326PLCE1c.4352C>T (p.Ser1451Leu)
c.*1819C>T (n.*1819C>T)
n.2011C>T
n.695C>T
c.*560C>T (n.*560C>T)
c.4304C>T (p.Ser1435Leu)
n.9484C>T
n.2949C>T
c.5144C>T (p.Ser1715Leu)
c.5228C>T (p.Ser1743Leu)
c.5276C>T (p.Ser1759Leu)
c.4250C>T (p.Ser1417Leu)
c.3831C>T
c.3392C>T (p.Ser1131Leu)
c.*1209C>T (n.*1209C>T)
c.4545C>T
c.5318C>T (p.Ser1773Leu)
c.5315C>T (p.Ser1772Leu)
c.5270C>T (p.Ser1757Leu)
c.4394C>T (p.Ser1465Leu)
c.4163C>T (p.Ser1388Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298488G>ACA211599657PLCE1c.4353G>A (p.Ser1451=)
c.*1820G>A (n.*1820G>A)
n.2012G>A
n.696G>A
c.*561G>A (n.*561G>A)
c.4305G>A (p.Ser1435=)
n.9485G>A
n.2950G>A
c.5145G>A (p.Ser1715=)
c.5229G>A (p.Ser1743=)
c.5277G>A (p.Ser1759=)
c.4251G>A (p.Ser1417=)
c.3832G>A
c.3393G>A (p.Ser1131=)
c.*1210G>A (n.*1210G>A)
c.4546G>A
c.5319G>A (p.Ser1773=)
c.5316G>A (p.Ser1772=)
c.5271G>A (p.Ser1757=)
c.4395G>A (p.Ser1465=)
c.4164G>A (p.Ser1388=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.94298488G>CCA470986494PLCE1c.4353G>C (p.Ser1451=)
c.*1820G>C (n.*1820G>C)
n.2012G>C
n.696G>C
c.*561G>C (n.*561G>C)
c.4305G>C (p.Ser1435=)
n.9485G>C
n.2950G>C
c.5145G>C (p.Ser1715=)
c.5229G>C (p.Ser1743=)
c.5277G>C (p.Ser1759=)
c.4251G>C (p.Ser1417=)
c.3832G>C
c.3393G>C (p.Ser1131=)
c.*1210G>C (n.*1210G>C)
c.4546G>C
c.5319G>C (p.Ser1773=)
c.5316G>C (p.Ser1772=)
c.5271G>C (p.Ser1757=)
c.4395G>C (p.Ser1465=)
c.4164G>C (p.Ser1388=)
10g.94298488G=CA1928998413PLCE1c.4353G= (p.Ser1451=)
c.*1820G= (n.*1820G=)
n.2012G=
n.696G=
c.*561G= (n.*561G=)
c.4305G= (p.Ser1435=)
n.9485G=
n.2950G=
c.5145G= (p.Ser1715=)
c.5229G= (p.Ser1743=)
c.5277G= (p.Ser1759=)
c.4251G= (p.Ser1417=)
c.3832G=
c.3393G= (p.Ser1131=)
c.*1210G= (n.*1210G=)
c.4546G=
c.5319G= (p.Ser1773=)
c.5316G= (p.Ser1772=)
c.5271G= (p.Ser1757=)
c.4395G= (p.Ser1465=)
c.4164G= (p.Ser1388=)
10g.94298488G>TCA470986493PLCE1c.4353G>T (p.Ser1451=)
c.*1820G>T (n.*1820G>T)
n.2012G>T
n.696G>T
c.*561G>T (n.*561G>T)
c.4305G>T (p.Ser1435=)
n.9485G>T
n.2950G>T
c.5145G>T (p.Ser1715=)
c.5229G>T (p.Ser1743=)
c.5277G>T (p.Ser1759=)
c.4251G>T (p.Ser1417=)
c.3832G>T
c.3393G>T (p.Ser1131=)
c.*1210G>T (n.*1210G>T)
c.4546G>T
c.5319G>T (p.Ser1773=)
c.5316G>T (p.Ser1772=)
c.5271G>T (p.Ser1757=)
c.4395G>T (p.Ser1465=)
c.4164G>T (p.Ser1388=)
10g.94298489C>ACA377641885PLCE1c.4354C>A (p.Leu1452Met)
c.*1821C>A (n.*1821C>A)
n.2013C>A
n.697C>A
c.*562C>A (n.*562C>A)
c.4306C>A (p.Leu1436Met)
n.9486C>A
n.2951C>A
c.5146C>A (p.Leu1716Met)
c.5230C>A (p.Leu1744Met)
c.5278C>A (p.Leu1760Met)
c.4252C>A (p.Leu1418Met)
c.3833C>A
c.3394C>A (p.Leu1132Met)
c.*1211C>A (n.*1211C>A)
c.4547C>A
c.5320C>A (p.Leu1774Met)
c.5317C>A (p.Leu1773Met)
c.5272C>A (p.Leu1758Met)
c.4396C>A (p.Leu1466Met)
c.4165C>A (p.Leu1389Met)
10g.94298489C=CA1928998414PLCE1c.4354C= (p.Leu1452=)
c.*1821C= (n.*1821C=)
n.2013C=
n.697C=
c.*562C= (n.*562C=)
c.4306C= (p.Leu1436=)
n.9486C=
n.2951C=
c.5146C= (p.Leu1716=)
c.5230C= (p.Leu1744=)
c.5278C= (p.Leu1760=)
c.4252C= (p.Leu1418=)
c.3833C=
c.3394C= (p.Leu1132=)
c.*1211C= (n.*1211C=)
c.4547C=
c.5320C= (p.Leu1774=)
c.5317C= (p.Leu1773=)
c.5272C= (p.Leu1758=)
c.4396C= (p.Leu1466=)
c.4165C= (p.Leu1389=)
10g.94298489C>GCA377641886PLCE1c.4354C>G (p.Leu1452Val)
c.*1821C>G (n.*1821C>G)
n.2013C>G
n.697C>G
c.*562C>G (n.*562C>G)
c.4306C>G (p.Leu1436Val)
n.9486C>G
n.2951C>G
c.5146C>G (p.Leu1716Val)
c.5230C>G (p.Leu1744Val)
c.5278C>G (p.Leu1760Val)
c.4252C>G (p.Leu1418Val)
c.3833C>G
c.3394C>G (p.Leu1132Val)
c.*1211C>G (n.*1211C>G)
c.4547C>G
c.5320C>G (p.Leu1774Val)
c.5317C>G (p.Leu1773Val)
c.5272C>G (p.Leu1758Val)
c.4396C>G (p.Leu1466Val)
c.4165C>G (p.Leu1389Val)
10g.94298489C>TCA5613327PLCE1c.4354C>T (p.Leu1452=)
c.*1821C>T (n.*1821C>T)
n.2013C>T
n.697C>T
c.*562C>T (n.*562C>T)
c.4306C>T (p.Leu1436=)
n.9486C>T
n.2951C>T
c.5146C>T (p.Leu1716=)
c.5230C>T (p.Leu1744=)
c.5278C>T (p.Leu1760=)
c.4252C>T (p.Leu1418=)
c.3833C>T
c.3394C>T (p.Leu1132=)
c.*1211C>T (n.*1211C>T)
c.4547C>T
c.5320C>T (p.Leu1774=)
c.5317C>T (p.Leu1773=)
c.5272C>T (p.Leu1758=)
c.4396C>T (p.Leu1466=)
c.4165C>T (p.Leu1389=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298490T>ACA377641887PLCE1c.4355T>A (p.Leu1452Gln)
c.*1822T>A (n.*1822T>A)
n.2014T>A
n.698T>A
c.*563T>A (n.*563T>A)
c.4307T>A (p.Leu1436Gln)
n.9487T>A
n.2952T>A
c.5147T>A (p.Leu1716Gln)
c.5231T>A (p.Leu1744Gln)
c.5279T>A (p.Leu1760Gln)
c.4253T>A (p.Leu1418Gln)
c.3834T>A
c.3395T>A (p.Leu1132Gln)
c.*1212T>A (n.*1212T>A)
c.4548T>A
c.5321T>A (p.Leu1774Gln)
c.5318T>A (p.Leu1773Gln)
c.5273T>A (p.Leu1758Gln)
c.4397T>A (p.Leu1466Gln)
c.4166T>A (p.Leu1389Gln)
10g.94298490T>CCA377641889PLCE1c.4355T>C (p.Leu1452Pro)
c.*1822T>C (n.*1822T>C)
n.2014T>C
n.698T>C
c.*563T>C (n.*563T>C)
c.4307T>C (p.Leu1436Pro)
n.9487T>C
n.2952T>C
c.5147T>C (p.Leu1716Pro)
c.5231T>C (p.Leu1744Pro)
c.5279T>C (p.Leu1760Pro)
c.4253T>C (p.Leu1418Pro)
c.3834T>C
c.3395T>C (p.Leu1132Pro)
c.*1212T>C (n.*1212T>C)
c.4548T>C
c.5321T>C (p.Leu1774Pro)
c.5318T>C (p.Leu1773Pro)
c.5273T>C (p.Leu1758Pro)
c.4397T>C (p.Leu1466Pro)
c.4166T>C (p.Leu1389Pro)
10g.94298490T>GCA377641888PLCE1c.4355T>G (p.Leu1452Arg)
c.*1822T>G (n.*1822T>G)
n.2014T>G
n.698T>G
c.*563T>G (n.*563T>G)
c.4307T>G (p.Leu1436Arg)
n.9487T>G
n.2952T>G
c.5147T>G (p.Leu1716Arg)
c.5231T>G (p.Leu1744Arg)
c.5279T>G (p.Leu1760Arg)
c.4253T>G (p.Leu1418Arg)
c.3834T>G
c.3395T>G (p.Leu1132Arg)
c.*1212T>G (n.*1212T>G)
c.4548T>G
c.5321T>G (p.Leu1774Arg)
c.5318T>G (p.Leu1773Arg)
c.5273T>G (p.Leu1758Arg)
c.4397T>G (p.Leu1466Arg)
c.4166T>G (p.Leu1389Arg)
10g.94298491G>ACA470986495PLCE1c.4356G>A (p.Leu1452=)
c.*1823G>A (n.*1823G>A)
n.2015G>A
n.699G>A
c.*564G>A (n.*564G>A)
c.4308G>A (p.Leu1436=)
n.9488G>A
n.2953G>A
c.5148G>A (p.Leu1716=)
c.5232G>A (p.Leu1744=)
c.5280G>A (p.Leu1760=)
c.4254G>A (p.Leu1418=)
c.3835G>A
c.3396G>A (p.Leu1132=)
c.*1213G>A (n.*1213G>A)
c.4549G>A
c.5322G>A (p.Leu1774=)
c.5319G>A (p.Leu1773=)
c.5274G>A (p.Leu1758=)
c.4398G>A (p.Leu1466=)
c.4167G>A (p.Leu1389=)
10g.94298491G>CCA470986496PLCE1c.4356G>C (p.Leu1452=)
c.*1823G>C (n.*1823G>C)
n.2015G>C
n.699G>C
c.*564G>C (n.*564G>C)
c.4308G>C (p.Leu1436=)
n.9488G>C
n.2953G>C
c.5148G>C (p.Leu1716=)
c.5232G>C (p.Leu1744=)
c.5280G>C (p.Leu1760=)
c.4254G>C (p.Leu1418=)
c.3835G>C
c.3396G>C (p.Leu1132=)
c.*1213G>C (n.*1213G>C)
c.4549G>C
c.5322G>C (p.Leu1774=)
c.5319G>C (p.Leu1773=)
c.5274G>C (p.Leu1758=)
c.4398G>C (p.Leu1466=)
c.4167G>C (p.Leu1389=)
10g.94298491G>TCA470986497PLCE1c.4356G>T (p.Leu1452=)
c.*1823G>T (n.*1823G>T)
n.2015G>T
n.699G>T
c.*564G>T (n.*564G>T)
c.4308G>T (p.Leu1436=)
n.9488G>T
n.2953G>T
c.5148G>T (p.Leu1716=)
c.5232G>T (p.Leu1744=)
c.5280G>T (p.Leu1760=)
c.4254G>T (p.Leu1418=)
c.3835G>T
c.3396G>T (p.Leu1132=)
c.*1213G>T (n.*1213G>T)
c.4549G>T
c.5322G>T (p.Leu1774=)
c.5319G>T (p.Leu1773=)
c.5274G>T (p.Leu1758=)
c.4398G>T (p.Leu1466=)
c.4167G>T (p.Leu1389=)
10g.94298492A>CCA377641890PLCE1c.4357A>C (p.Asn1453His)
c.*1824A>C (n.*1824A>C)
n.2016A>C
n.700A>C
c.*565A>C (n.*565A>C)
c.4309A>C (p.Asn1437His)
n.9489A>C
n.2954A>C
c.5149A>C (p.Asn1717His)
c.5233A>C (p.Asn1745His)
c.5281A>C (p.Asn1761His)
c.4255A>C (p.Asn1419His)
c.3836A>C
c.3397A>C (p.Asn1133His)
c.*1214A>C (n.*1214A>C)
c.4550A>C
c.5323A>C (p.Asn1775His)
c.5320A>C (p.Asn1774His)
c.5275A>C (p.Asn1759His)
c.4399A>C (p.Asn1467His)
c.4168A>C (p.Asn1390His)
gnomAD v4
10g.94298492A>GCA377641891PLCE1c.4357A>G (p.Asn1453Asp)
c.*1824A>G (n.*1824A>G)
n.2016A>G
n.700A>G
c.*565A>G (n.*565A>G)
c.4309A>G (p.Asn1437Asp)
n.9489A>G
n.2954A>G
c.5149A>G (p.Asn1717Asp)
c.5233A>G (p.Asn1745Asp)
c.5281A>G (p.Asn1761Asp)
c.4255A>G (p.Asn1419Asp)
c.3836A>G
c.3397A>G (p.Asn1133Asp)
c.*1214A>G (n.*1214A>G)
c.4550A>G
c.5323A>G (p.Asn1775Asp)
c.5320A>G (p.Asn1774Asp)
c.5275A>G (p.Asn1759Asp)
c.4399A>G (p.Asn1467Asp)
c.4168A>G (p.Asn1390Asp)
10g.94298492A>TCA377641892PLCE1c.4357A>T (p.Asn1453Tyr)
c.*1824A>T (n.*1824A>T)
n.2016A>T
n.700A>T
c.*565A>T (n.*565A>T)
c.4309A>T (p.Asn1437Tyr)
n.9489A>T
n.2954A>T
c.5149A>T (p.Asn1717Tyr)
c.5233A>T (p.Asn1745Tyr)
c.5281A>T (p.Asn1761Tyr)
c.4255A>T (p.Asn1419Tyr)
c.3836A>T
c.3397A>T (p.Asn1133Tyr)
c.*1214A>T (n.*1214A>T)
c.4550A>T
c.5323A>T (p.Asn1775Tyr)
c.5320A>T (p.Asn1774Tyr)
c.5275A>T (p.Asn1759Tyr)
c.4399A>T (p.Asn1467Tyr)
c.4168A>T (p.Asn1390Tyr)
10g.94298493A>CCA377641893PLCE1c.4358A>C (p.Asn1453Thr)
c.*1825A>C (n.*1825A>C)
n.2017A>C
n.701A>C
c.*566A>C (n.*566A>C)
c.4310A>C (p.Asn1437Thr)
n.9490A>C
n.2955A>C
c.5150A>C (p.Asn1717Thr)
c.5234A>C (p.Asn1745Thr)
c.5282A>C (p.Asn1761Thr)
c.4256A>C (p.Asn1419Thr)
c.3837A>C
c.3398A>C (p.Asn1133Thr)
c.*1215A>C (n.*1215A>C)
c.4551A>C
c.5324A>C (p.Asn1775Thr)
c.5321A>C (p.Asn1774Thr)
c.5276A>C (p.Asn1759Thr)
c.4400A>C (p.Asn1467Thr)
c.4169A>C (p.Asn1390Thr)
10g.94298493A>GCA377641894PLCE1c.4358A>G (p.Asn1453Ser)
c.*1825A>G (n.*1825A>G)
n.2017A>G
n.701A>G
c.*566A>G (n.*566A>G)
c.4310A>G (p.Asn1437Ser)
n.9490A>G
n.2955A>G
c.5150A>G (p.Asn1717Ser)
c.5234A>G (p.Asn1745Ser)
c.5282A>G (p.Asn1761Ser)
c.4256A>G (p.Asn1419Ser)
c.3837A>G
c.3398A>G (p.Asn1133Ser)
c.*1215A>G (n.*1215A>G)
c.4551A>G
c.5324A>G (p.Asn1775Ser)
c.5321A>G (p.Asn1774Ser)
c.5276A>G (p.Asn1759Ser)
c.4400A>G (p.Asn1467Ser)
c.4169A>G (p.Asn1390Ser)
10g.94298493A>TCA377641895PLCE1c.4358A>T (p.Asn1453Ile)
c.*1825A>T (n.*1825A>T)
n.2017A>T
n.701A>T
c.*566A>T (n.*566A>T)
c.4310A>T (p.Asn1437Ile)
n.9490A>T
n.2955A>T
c.5150A>T (p.Asn1717Ile)
c.5234A>T (p.Asn1745Ile)
c.5282A>T (p.Asn1761Ile)
c.4256A>T (p.Asn1419Ile)
c.3837A>T
c.3398A>T (p.Asn1133Ile)
c.*1215A>T (n.*1215A>T)
c.4551A>T
c.5324A>T (p.Asn1775Ile)
c.5321A>T (p.Asn1774Ile)
c.5276A>T (p.Asn1759Ile)
c.4400A>T (p.Asn1467Ile)
c.4169A>T (p.Asn1390Ile)
10g.94298494T>ACA377641896PLCE1c.4359T>A (p.Asn1453Lys)
c.*1826T>A (n.*1826T>A)
n.2018T>A
n.702T>A
c.*567T>A (n.*567T>A)
c.4311T>A (p.Asn1437Lys)
n.9491T>A
n.2956T>A
c.5151T>A (p.Asn1717Lys)
c.5235T>A (p.Asn1745Lys)
c.5283T>A (p.Asn1761Lys)
c.4257T>A (p.Asn1419Lys)
c.3838T>A
c.3399T>A (p.Asn1133Lys)
c.*1216T>A (n.*1216T>A)
c.4552T>A
c.5325T>A (p.Asn1775Lys)
c.5322T>A (p.Asn1774Lys)
c.5277T>A (p.Asn1759Lys)
c.4401T>A (p.Asn1467Lys)
c.4170T>A (p.Asn1390Lys)
10g.94298494T>CCA211599662PLCE1c.4359T>C (p.Asn1453=)
c.*1826T>C (n.*1826T>C)
n.2018T>C
n.702T>C
c.*567T>C (n.*567T>C)
c.4311T>C (p.Asn1437=)
n.9491T>C
n.2956T>C
c.5151T>C (p.Asn1717=)
c.5235T>C (p.Asn1745=)
c.5283T>C (p.Asn1761=)
c.4257T>C (p.Asn1419=)
c.3838T>C
c.3399T>C (p.Asn1133=)
c.*1216T>C (n.*1216T>C)
c.4552T>C
c.5325T>C (p.Asn1775=)
c.5322T>C (p.Asn1774=)
c.5277T>C (p.Asn1759=)
c.4401T>C (p.Asn1467=)
c.4170T>C (p.Asn1390=)
dbSNP
10g.94298494T>GCA377641897PLCE1c.4359T>G (p.Asn1453Lys)
c.*1826T>G (n.*1826T>G)
n.2018T>G
n.702T>G
c.*567T>G (n.*567T>G)
c.4311T>G (p.Asn1437Lys)
n.9491T>G
n.2956T>G
c.5151T>G (p.Asn1717Lys)
c.5235T>G (p.Asn1745Lys)
c.5283T>G (p.Asn1761Lys)
c.4257T>G (p.Asn1419Lys)
c.3838T>G
c.3399T>G (p.Asn1133Lys)
c.*1216T>G (n.*1216T>G)
c.4552T>G
c.5325T>G (p.Asn1775Lys)
c.5322T>G (p.Asn1774Lys)
c.5277T>G (p.Asn1759Lys)
c.4401T>G (p.Asn1467Lys)
c.4170T>G (p.Asn1390Lys)
10g.94298494T=CA1928998415PLCE1c.4359T= (p.Asn1453=)
c.*1826T= (n.*1826T=)
n.2018T=
n.702T=
c.*567T= (n.*567T=)
c.4311T= (p.Asn1437=)
n.9491T=
n.2956T=
c.5151T= (p.Asn1717=)
c.5235T= (p.Asn1745=)
c.5283T= (p.Asn1761=)
c.4257T= (p.Asn1419=)
c.3838T=
c.3399T= (p.Asn1133=)
c.*1216T= (n.*1216T=)
c.4552T=
c.5325T= (p.Asn1775=)
c.5322T= (p.Asn1774=)
c.5277T= (p.Asn1759=)
c.4401T= (p.Asn1467=)
c.4170T= (p.Asn1390=)
10g.94298495G>ACA377641898PLCE1c.4360G>A (p.Glu1454Lys)
c.*1827G>A (n.*1827G>A)
n.2019G>A
n.703G>A
c.*568G>A (n.*568G>A)
c.4312G>A (p.Glu1438Lys)
n.9492G>A
n.2957G>A
c.5152G>A (p.Glu1718Lys)
c.5236G>A (p.Glu1746Lys)
c.5284G>A (p.Glu1762Lys)
c.4258G>A (p.Glu1420Lys)
c.3839G>A
c.3400G>A (p.Glu1134Lys)
c.*1217G>A (n.*1217G>A)
c.4553G>A
c.5326G>A (p.Glu1776Lys)
c.5323G>A (p.Glu1775Lys)
c.5278G>A (p.Glu1760Lys)
c.4402G>A (p.Glu1468Lys)
c.4171G>A (p.Glu1391Lys)
10g.94298495G>CCA377641899PLCE1c.4360G>C (p.Glu1454Gln)
c.*1827G>C (n.*1827G>C)
n.2019G>C
n.703G>C
c.*568G>C (n.*568G>C)
c.4312G>C (p.Glu1438Gln)
n.9492G>C
n.2957G>C
c.5152G>C (p.Glu1718Gln)
c.5236G>C (p.Glu1746Gln)
c.5284G>C (p.Glu1762Gln)
c.4258G>C (p.Glu1420Gln)
c.3839G>C
c.3400G>C (p.Glu1134Gln)
c.*1217G>C (n.*1217G>C)
c.4553G>C
c.5326G>C (p.Glu1776Gln)
c.5323G>C (p.Glu1775Gln)
c.5278G>C (p.Glu1760Gln)
c.4402G>C (p.Glu1468Gln)
c.4171G>C (p.Glu1391Gln)
10g.94298495G>TCA377641900PLCE1c.4360G>T (p.Glu1454Ter)
c.*1827G>T (n.*1827G>T)
n.2019G>T
n.703G>T
c.*568G>T (n.*568G>T)
c.4312G>T (p.Glu1438Ter)
n.9492G>T
n.2957G>T
c.5152G>T (p.Glu1718Ter)
c.5236G>T (p.Glu1746Ter)
c.5284G>T (p.Glu1762Ter)
c.4258G>T (p.Glu1420Ter)
c.3839G>T
c.3400G>T (p.Glu1134Ter)
c.*1217G>T (n.*1217G>T)
c.4553G>T
c.5326G>T (p.Glu1776Ter)
c.5323G>T (p.Glu1775Ter)
c.5278G>T (p.Glu1760Ter)
c.4402G>T (p.Glu1468Ter)
c.4171G>T (p.Glu1391Ter)
10g.94298496A>CCA377641903PLCE1c.4361A>C (p.Glu1454Ala)
c.*1828A>C (n.*1828A>C)
n.2020A>C
n.704A>C
c.*569A>C (n.*569A>C)
c.4313A>C (p.Glu1438Ala)
n.9493A>C
n.2958A>C
c.5153A>C (p.Glu1718Ala)
c.5237A>C (p.Glu1746Ala)
c.5285A>C (p.Glu1762Ala)
c.4259A>C (p.Glu1420Ala)
c.3840A>C
c.3401A>C (p.Glu1134Ala)
c.*1218A>C (n.*1218A>C)
c.4554A>C
c.5327A>C (p.Glu1776Ala)
c.5324A>C (p.Glu1775Ala)
c.5279A>C (p.Glu1760Ala)
c.4403A>C (p.Glu1468Ala)
c.4172A>C (p.Glu1391Ala)
10g.94298496A>GCA377641901PLCE1c.4361A>G (p.Glu1454Gly)
c.*1828A>G (n.*1828A>G)
n.2020A>G
n.704A>G
c.*569A>G (n.*569A>G)
c.4313A>G (p.Glu1438Gly)
n.9493A>G
n.2958A>G
c.5153A>G (p.Glu1718Gly)
c.5237A>G (p.Glu1746Gly)
c.5285A>G (p.Glu1762Gly)
c.4259A>G (p.Glu1420Gly)
c.3840A>G
c.3401A>G (p.Glu1134Gly)
c.*1218A>G (n.*1218A>G)
c.4554A>G
c.5327A>G (p.Glu1776Gly)
c.5324A>G (p.Glu1775Gly)
c.5279A>G (p.Glu1760Gly)
c.4403A>G (p.Glu1468Gly)
c.4172A>G (p.Glu1391Gly)
10g.94298496A>TCA377641902PLCE1c.4361A>T (p.Glu1454Val)
c.*1828A>T (n.*1828A>T)
n.2020A>T
n.704A>T
c.*569A>T (n.*569A>T)
c.4313A>T (p.Glu1438Val)
n.9493A>T
n.2958A>T
c.5153A>T (p.Glu1718Val)
c.5237A>T (p.Glu1746Val)
c.5285A>T (p.Glu1762Val)
c.4259A>T (p.Glu1420Val)
c.3840A>T
c.3401A>T (p.Glu1134Val)
c.*1218A>T (n.*1218A>T)
c.4554A>T
c.5327A>T (p.Glu1776Val)
c.5324A>T (p.Glu1775Val)
c.5279A>T (p.Glu1760Val)
c.4403A>T (p.Glu1468Val)
c.4172A>T (p.Glu1391Val)
10g.94298497A>CCA377641904PLCE1c.4362A>C (p.Glu1454Asp)
c.*1829A>C (n.*1829A>C)
n.2021A>C
n.705A>C
c.*570A>C (n.*570A>C)
c.4314A>C (p.Glu1438Asp)
n.9494A>C
n.2959A>C
c.5154A>C (p.Glu1718Asp)
c.5238A>C (p.Glu1746Asp)
c.5286A>C (p.Glu1762Asp)
c.4260A>C (p.Glu1420Asp)
c.3841A>C
c.3402A>C (p.Glu1134Asp)
c.*1219A>C (n.*1219A>C)
c.4555A>C
c.5328A>C (p.Glu1776Asp)
c.5325A>C (p.Glu1775Asp)
c.5280A>C (p.Glu1760Asp)
c.4404A>C (p.Glu1468Asp)
c.4173A>C (p.Glu1391Asp)
10g.94298497A>GCA470986502PLCE1c.4362A>G (p.Glu1454=)
c.*1829A>G (n.*1829A>G)
n.2021A>G
n.705A>G
c.*570A>G (n.*570A>G)
c.4314A>G (p.Glu1438=)
n.9494A>G
n.2959A>G
c.5154A>G (p.Glu1718=)
c.5238A>G (p.Glu1746=)
c.5286A>G (p.Glu1762=)
c.4260A>G (p.Glu1420=)
c.3841A>G
c.3402A>G (p.Glu1134=)
c.*1219A>G (n.*1219A>G)
c.4555A>G
c.5328A>G (p.Glu1776=)
c.5325A>G (p.Glu1775=)
c.5280A>G (p.Glu1760=)
c.4404A>G (p.Glu1468=)
c.4173A>G (p.Glu1391=)
10g.94298497A>TCA377641905PLCE1c.4362A>T (p.Glu1454Asp)
c.*1829A>T (n.*1829A>T)
n.2021A>T
n.705A>T
c.*570A>T (n.*570A>T)
c.4314A>T (p.Glu1438Asp)
n.9494A>T
n.2959A>T
c.5154A>T (p.Glu1718Asp)
c.5238A>T (p.Glu1746Asp)
c.5286A>T (p.Glu1762Asp)
c.4260A>T (p.Glu1420Asp)
c.3841A>T
c.3402A>T (p.Glu1134Asp)
c.*1219A>T (n.*1219A>T)
c.4555A>T
c.5328A>T (p.Glu1776Asp)
c.5325A>T (p.Glu1775Asp)
c.5280A>T (p.Glu1760Asp)
c.4404A>T (p.Glu1468Asp)
c.4173A>T (p.Glu1391Asp)
10g.94298498A>CCA377641906PLCE1c.4363A>C (p.Asn1455His)
c.*1830A>C (n.*1830A>C)
n.2022A>C
n.706A>C
c.*571A>C (n.*571A>C)
c.4315A>C (p.Asn1439His)
n.9495A>C
n.2960A>C
c.5155A>C (p.Asn1719His)
c.5239A>C (p.Asn1747His)
c.5287A>C (p.Asn1763His)
c.4261A>C (p.Asn1421His)
c.3842A>C
c.3403A>C (p.Asn1135His)
c.*1220A>C (n.*1220A>C)
c.4556A>C
c.5329A>C (p.Asn1777His)
c.5326A>C (p.Asn1776His)
c.5281A>C (p.Asn1761His)
c.4405A>C (p.Asn1469His)
c.4174A>C (p.Asn1392His)
10g.94298498A>GCA377641907PLCE1c.4363A>G (p.Asn1455Asp)
c.*1830A>G (n.*1830A>G)
n.2022A>G
n.706A>G
c.*571A>G (n.*571A>G)
c.4315A>G (p.Asn1439Asp)
n.9495A>G
n.2960A>G
c.5155A>G (p.Asn1719Asp)
c.5239A>G (p.Asn1747Asp)
c.5287A>G (p.Asn1763Asp)
c.4261A>G (p.Asn1421Asp)
c.3842A>G
c.3403A>G (p.Asn1135Asp)
c.*1220A>G (n.*1220A>G)
c.4556A>G
c.5329A>G (p.Asn1777Asp)
c.5326A>G (p.Asn1776Asp)
c.5281A>G (p.Asn1761Asp)
c.4405A>G (p.Asn1469Asp)
c.4174A>G (p.Asn1392Asp)
10g.94298498A>TCA377641908PLCE1c.4363A>T (p.Asn1455Tyr)
c.*1830A>T (n.*1830A>T)
n.2022A>T
n.706A>T
c.*571A>T (n.*571A>T)
c.4315A>T (p.Asn1439Tyr)
n.9495A>T
n.2960A>T
c.5155A>T (p.Asn1719Tyr)
c.5239A>T (p.Asn1747Tyr)
c.5287A>T (p.Asn1763Tyr)
c.4261A>T (p.Asn1421Tyr)
c.3842A>T
c.3403A>T (p.Asn1135Tyr)
c.*1220A>T (n.*1220A>T)
c.4556A>T
c.5329A>T (p.Asn1777Tyr)
c.5326A>T (p.Asn1776Tyr)
c.5281A>T (p.Asn1761Tyr)
c.4405A>T (p.Asn1469Tyr)
c.4174A>T (p.Asn1392Tyr)
10g.94298499A=CA1928998416PLCE1c.4364A= (p.Asn1455=)
c.*1831A= (n.*1831A=)
n.2023A=
n.707A=
c.*572A= (n.*572A=)
c.4316A= (p.Asn1439=)
n.9496A=
n.2961A=
c.5156A= (p.Asn1719=)
c.5240A= (p.Asn1747=)
c.5288A= (p.Asn1763=)
c.4262A= (p.Asn1421=)
c.3843A=
c.3404A= (p.Asn1135=)
c.*1221A= (n.*1221A=)
c.4557A=
c.5330A= (p.Asn1777=)
c.5327A= (p.Asn1776=)
c.5282A= (p.Asn1761=)
c.4406A= (p.Asn1469=)
c.4175A= (p.Asn1392=)
10g.94298499A>CCA377641909PLCE1c.4364A>C (p.Asn1455Thr)
c.*1831A>C (n.*1831A>C)
n.2023A>C
n.707A>C
c.*572A>C (n.*572A>C)
c.4316A>C (p.Asn1439Thr)
n.9496A>C
n.2961A>C
c.5156A>C (p.Asn1719Thr)
c.5240A>C (p.Asn1747Thr)
c.5288A>C (p.Asn1763Thr)
c.4262A>C (p.Asn1421Thr)
c.3843A>C
c.3404A>C (p.Asn1135Thr)
c.*1221A>C (n.*1221A>C)
c.4557A>C
c.5330A>C (p.Asn1777Thr)
c.5327A>C (p.Asn1776Thr)
c.5282A>C (p.Asn1761Thr)
c.4406A>C (p.Asn1469Thr)
c.4175A>C (p.Asn1392Thr)
10g.94298499A>GCA377641910PLCE1c.4364A>G (p.Asn1455Ser)
c.*1831A>G (n.*1831A>G)
n.2023A>G
n.707A>G
c.*572A>G (n.*572A>G)
c.4316A>G (p.Asn1439Ser)
n.9496A>G
n.2961A>G
c.5156A>G (p.Asn1719Ser)
c.5240A>G (p.Asn1747Ser)
c.5288A>G (p.Asn1763Ser)
c.4262A>G (p.Asn1421Ser)
c.3843A>G
c.3404A>G (p.Asn1135Ser)
c.*1221A>G (n.*1221A>G)
c.4557A>G
c.5330A>G (p.Asn1777Ser)
c.5327A>G (p.Asn1776Ser)
c.5282A>G (p.Asn1761Ser)
c.4406A>G (p.Asn1469Ser)
c.4175A>G (p.Asn1392Ser)
10g.94298499A>TCA377641911PLCE1c.4364A>T (p.Asn1455Ile)
c.*1831A>T (n.*1831A>T)
n.2023A>T
n.707A>T
c.*572A>T (n.*572A>T)
c.4316A>T (p.Asn1439Ile)
n.9496A>T
n.2961A>T
c.5156A>T (p.Asn1719Ile)
c.5240A>T (p.Asn1747Ile)
c.5288A>T (p.Asn1763Ile)
c.4262A>T (p.Asn1421Ile)
c.3843A>T
c.3404A>T (p.Asn1135Ile)
c.*1221A>T (n.*1221A>T)
c.4557A>T
c.5330A>T (p.Asn1777Ile)
c.5327A>T (p.Asn1776Ile)
c.5282A>T (p.Asn1761Ile)
c.4406A>T (p.Asn1469Ile)
c.4175A>T (p.Asn1392Ile)
dbSNP gnomAD v3 gnomAD v4
10g.94298500T>ACA377641912PLCE1c.4365T>A (p.Asn1455Lys)
c.*1832T>A (n.*1832T>A)
n.2024T>A
n.708T>A
c.*573T>A (n.*573T>A)
c.4317T>A (p.Asn1439Lys)
n.9497T>A
n.2962T>A
c.5157T>A (p.Asn1719Lys)
c.5241T>A (p.Asn1747Lys)
c.5289T>A (p.Asn1763Lys)
c.4263T>A (p.Asn1421Lys)
c.3844T>A
c.3405T>A (p.Asn1135Lys)
c.*1222T>A (n.*1222T>A)
c.4558T>A
c.5331T>A (p.Asn1777Lys)
c.5328T>A (p.Asn1776Lys)
c.5283T>A (p.Asn1761Lys)
c.4407T>A (p.Asn1469Lys)
c.4176T>A (p.Asn1392Lys)
10g.94298500T>CCA470986507PLCE1c.4365T>C (p.Asn1455=)
c.*1832T>C (n.*1832T>C)
n.2024T>C
n.708T>C
c.*573T>C (n.*573T>C)
c.4317T>C (p.Asn1439=)
n.9497T>C
n.2962T>C
c.5157T>C (p.Asn1719=)
c.5241T>C (p.Asn1747=)
c.5289T>C (p.Asn1763=)
c.4263T>C (p.Asn1421=)
c.3844T>C
c.3405T>C (p.Asn1135=)
c.*1222T>C (n.*1222T>C)
c.4558T>C
c.5331T>C (p.Asn1777=)
c.5328T>C (p.Asn1776=)
c.5283T>C (p.Asn1761=)
c.4407T>C (p.Asn1469=)
c.4176T>C (p.Asn1392=)
10g.94298500T>GCA377641913PLCE1c.4365T>G (p.Asn1455Lys)
c.*1832T>G (n.*1832T>G)
n.2024T>G
n.708T>G
c.*573T>G (n.*573T>G)
c.4317T>G (p.Asn1439Lys)
n.9497T>G
n.2962T>G
c.5157T>G (p.Asn1719Lys)
c.5241T>G (p.Asn1747Lys)
c.5289T>G (p.Asn1763Lys)
c.4263T>G (p.Asn1421Lys)
c.3844T>G
c.3405T>G (p.Asn1135Lys)
c.*1222T>G (n.*1222T>G)
c.4558T>G
c.5331T>G (p.Asn1777Lys)
c.5328T>G (p.Asn1776Lys)
c.5283T>G (p.Asn1761Lys)
c.4407T>G (p.Asn1469Lys)
c.4176T>G (p.Asn1392Lys)
10g.94298501G>ACA377641915PLCE1c.4366G>A (p.Ala1456Thr)
c.*1833G>A (n.*1833G>A)
n.2025G>A
n.709G>A
c.*574G>A (n.*574G>A)
c.4318G>A (p.Ala1440Thr)
n.9498G>A
n.2963G>A
c.5158G>A (p.Ala1720Thr)
c.5242G>A (p.Ala1748Thr)
c.5290G>A (p.Ala1764Thr)
c.4264G>A (p.Ala1422Thr)
c.3845G>A
c.3406G>A (p.Ala1136Thr)
c.*1223G>A (n.*1223G>A)
c.4559G>A
c.5332G>A (p.Ala1778Thr)
c.5329G>A (p.Ala1777Thr)
c.5284G>A (p.Ala1762Thr)
c.4408G>A (p.Ala1470Thr)
c.4177G>A (p.Ala1393Thr)
10g.94298501G>CCA377641914PLCE1c.4366G>C (p.Ala1456Pro)
c.*1833G>C (n.*1833G>C)
n.2025G>C
n.709G>C
c.*574G>C (n.*574G>C)
c.4318G>C (p.Ala1440Pro)
n.9498G>C
n.2963G>C
c.5158G>C (p.Ala1720Pro)
c.5242G>C (p.Ala1748Pro)
c.5290G>C (p.Ala1764Pro)
c.4264G>C (p.Ala1422Pro)
c.3845G>C
c.3406G>C (p.Ala1136Pro)
c.*1223G>C (n.*1223G>C)
c.4559G>C
c.5332G>C (p.Ala1778Pro)
c.5329G>C (p.Ala1777Pro)
c.5284G>C (p.Ala1762Pro)
c.4408G>C (p.Ala1470Pro)
c.4177G>C (p.Ala1393Pro)
10g.94298501G=CA1928998417PLCE1c.4366G= (p.Ala1456=)
c.*1833G= (n.*1833G=)
n.2025G=
n.709G=
c.*574G= (n.*574G=)
c.4318G= (p.Ala1440=)
n.9498G=
n.2963G=
c.5158G= (p.Ala1720=)
c.5242G= (p.Ala1748=)
c.5290G= (p.Ala1764=)
c.4264G= (p.Ala1422=)
c.3845G=
c.3406G= (p.Ala1136=)
c.*1223G= (n.*1223G=)
c.4559G=
c.5332G= (p.Ala1778=)
c.5329G= (p.Ala1777=)
c.5284G= (p.Ala1762=)
c.4408G= (p.Ala1470=)
c.4177G= (p.Ala1393=)
10g.94298501G>TCA5613328PLCE1c.4366G>T (p.Ala1456Ser)
c.*1833G>T (n.*1833G>T)
n.2025G>T
n.709G>T
c.*574G>T (n.*574G>T)
c.4318G>T (p.Ala1440Ser)
n.9498G>T
n.2963G>T
c.5158G>T (p.Ala1720Ser)
c.5242G>T (p.Ala1748Ser)
c.5290G>T (p.Ala1764Ser)
c.4264G>T (p.Ala1422Ser)
c.3845G>T
c.3406G>T (p.Ala1136Ser)
c.*1223G>T (n.*1223G>T)
c.4559G>T
c.5332G>T (p.Ala1778Ser)
c.5329G>T (p.Ala1777Ser)
c.5284G>T (p.Ala1762Ser)
c.4408G>T (p.Ala1470Ser)
c.4177G>T (p.Ala1393Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.94298502C>ACA377641916PLCE1c.4367C>A (p.Ala1456Asp)
c.*1834C>A (n.*1834C>A)
n.2026C>A
n.710C>A
c.*575C>A (n.*575C>A)
c.4319C>A (p.Ala1440Asp)
n.9499C>A
n.2964C>A
c.5159C>A (p.Ala1720Asp)
c.5243C>A (p.Ala1748Asp)
c.5291C>A (p.Ala1764Asp)
c.4265C>A (p.Ala1422Asp)
c.3846C>A
c.3407C>A (p.Ala1136Asp)
c.*1224C>A (n.*1224C>A)
c.4560C>A
c.5333C>A (p.Ala1778Asp)
c.5330C>A (p.Ala1777Asp)
c.5285C>A (p.Ala1762Asp)
c.4409C>A (p.Ala1470Asp)
c.4178C>A (p.Ala1393Asp)
gnomAD v4
10g.94298502C>GCA377641917PLCE1c.4367C>G (p.Ala1456Gly)
c.*1834C>G (n.*1834C>G)
n.2026C>G
n.710C>G
c.*575C>G (n.*575C>G)
c.4319C>G (p.Ala1440Gly)
n.9499C>G
n.2964C>G
c.5159C>G (p.Ala1720Gly)
c.5243C>G (p.Ala1748Gly)
c.5291C>G (p.Ala1764Gly)
c.4265C>G (p.Ala1422Gly)
c.3846C>G
c.3407C>G (p.Ala1136Gly)
c.*1224C>G (n.*1224C>G)
c.4560C>G
c.5333C>G (p.Ala1778Gly)
c.5330C>G (p.Ala1777Gly)
c.5285C>G (p.Ala1762Gly)
c.4409C>G (p.Ala1470Gly)
c.4178C>G (p.Ala1393Gly)
10g.94298502C>TCA377641918PLCE1c.4367C>T (p.Ala1456Val)
c.*1834C>T (n.*1834C>T)
n.2026C>T
n.710C>T
c.*575C>T (n.*575C>T)
c.4319C>T (p.Ala1440Val)
n.9499C>T
n.2964C>T
c.5159C>T (p.Ala1720Val)
c.5243C>T (p.Ala1748Val)
c.5291C>T (p.Ala1764Val)
c.4265C>T (p.Ala1422Val)
c.3846C>T
c.3407C>T (p.Ala1136Val)
c.*1224C>T (n.*1224C>T)
c.4560C>T
c.5333C>T (p.Ala1778Val)
c.5330C>T (p.Ala1777Val)
c.5285C>T (p.Ala1762Val)
c.4409C>T (p.Ala1470Val)
c.4178C>T (p.Ala1393Val)
10g.94298502_94298503dupCA2610239641PLCE1c.4367_4368dup (p.Ala1457ProfsTer13)
c.*1834_*1835dup (n.*1834_*1835dup)
n.2026_2027dup
n.710_711dup
c.*575_*576dup (n.*575_*576dup)
c.4319_4320dup (p.Ala1441ProfsTer13)
n.9499_9500dup
n.2964_2965dup
c.5159_5160dup (p.Ala1721ProfsTer13)
c.5243_5244dup (p.Ala1749ProfsTer13)
c.5291_5292dup (p.Ala1765ProfsTer13)
c.4265_4266dup (p.Ala1423ProfsTer13)
c.3846_3847dup
c.3407_3408dup (p.Ala1137ProfsTer13)
c.*1224_*1225dup (n.*1224_*1225dup)
c.4560_4561dup
c.5333_5334dup (p.Ala1779ProfsTer13)
c.5330_5331dup (p.Ala1778ProfsTer13)
c.5285_5286dup (p.Ala1763ProfsTer13)
c.4409_4410dup (p.Ala1471ProfsTer13)
c.4178_4179dup (p.Ala1394ProfsTer13)
gnomAD v4
10g.94298503C>ACA5613329PLCE1c.4368C>A (p.Ala1456=)
c.*1835C>A (n.*1835C>A)
n.2027C>A
n.711C>A
c.*576C>A (n.*576C>A)
c.4320C>A (p.Ala1440=)
n.9500C>A
n.2965C>A
c.5160C>A (p.Ala1720=)
c.5244C>A (p.Ala1748=)
c.5292C>A (p.Ala1764=)
c.4266C>A (p.Ala1422=)
c.3847C>A
c.3408C>A (p.Ala1136=)
c.*1225C>A (n.*1225C>A)
c.4561C>A
c.5334C>A (p.Ala1778=)
c.5331C>A (p.Ala1777=)
c.5286C>A (p.Ala1762=)
c.4410C>A (p.Ala1470=)
c.4179C>A (p.Ala1393=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298503C=CA1928998418PLCE1c.4368C= (p.Ala1456=)
c.*1835C= (n.*1835C=)
n.2027C=
n.711C=
c.*576C= (n.*576C=)
c.4320C= (p.Ala1440=)
n.9500C=
n.2965C=
c.5160C= (p.Ala1720=)
c.5244C= (p.Ala1748=)
c.5292C= (p.Ala1764=)
c.4266C= (p.Ala1422=)
c.3847C=
c.3408C= (p.Ala1136=)
c.*1225C= (n.*1225C=)
c.4561C=
c.5334C= (p.Ala1778=)
c.5331C= (p.Ala1777=)
c.5286C= (p.Ala1762=)
c.4410C= (p.Ala1470=)
c.4179C= (p.Ala1393=)
10g.94298503C>GCA470986509PLCE1c.4368C>G (p.Ala1456=)
c.*1835C>G (n.*1835C>G)
n.2027C>G
n.711C>G
c.*576C>G (n.*576C>G)
c.4320C>G (p.Ala1440=)
n.9500C>G
n.2965C>G
c.5160C>G (p.Ala1720=)
c.5244C>G (p.Ala1748=)
c.5292C>G (p.Ala1764=)
c.4266C>G (p.Ala1422=)
c.3847C>G
c.3408C>G (p.Ala1136=)
c.*1225C>G (n.*1225C>G)
c.4561C>G
c.5334C>G (p.Ala1778=)
c.5331C>G (p.Ala1777=)
c.5286C>G (p.Ala1762=)
c.4410C>G (p.Ala1470=)
c.4179C>G (p.Ala1393=)
gnomAD v4
10g.94298503C>TCA470986510PLCE1c.4368C>T (p.Ala1456=)
c.*1835C>T (n.*1835C>T)
n.2027C>T
n.711C>T
c.*576C>T (n.*576C>T)
c.4320C>T (p.Ala1440=)
n.9500C>T
n.2965C>T
c.5160C>T (p.Ala1720=)
c.5244C>T (p.Ala1748=)
c.5292C>T (p.Ala1764=)
c.4266C>T (p.Ala1422=)
c.3847C>T
c.3408C>T (p.Ala1136=)
c.*1225C>T (n.*1225C>T)
c.4561C>T
c.5334C>T (p.Ala1778=)
c.5331C>T (p.Ala1777=)
c.5286C>T (p.Ala1762=)
c.4410C>T (p.Ala1470=)
c.4179C>T (p.Ala1393=)
dbSNP gnomAD v2 gnomAD v4
10g.94298504G>ACA5613330PLCE1c.4369G>A (p.Ala1457Thr)
c.*1836G>A (n.*1836G>A)
n.2028G>A
n.712G>A
c.*577G>A (n.*577G>A)
c.4321G>A (p.Ala1441Thr)
n.9501G>A
n.2966G>A
c.5161G>A (p.Ala1721Thr)
c.5245G>A (p.Ala1749Thr)
c.5293G>A (p.Ala1765Thr)
c.4267G>A (p.Ala1423Thr)
c.3848G>A
c.3409G>A (p.Ala1137Thr)
c.*1226G>A (n.*1226G>A)
c.4562G>A
c.5335G>A (p.Ala1779Thr)
c.5332G>A (p.Ala1778Thr)
c.5287G>A (p.Ala1763Thr)
c.4411G>A (p.Ala1471Thr)
c.4180G>A (p.Ala1394Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298504G>CCA377641919PLCE1c.4369G>C (p.Ala1457Pro)
c.*1836G>C (n.*1836G>C)
n.2028G>C
n.712G>C
c.*577G>C (n.*577G>C)
c.4321G>C (p.Ala1441Pro)
n.9501G>C
n.2966G>C
c.5161G>C (p.Ala1721Pro)
c.5245G>C (p.Ala1749Pro)
c.5293G>C (p.Ala1765Pro)
c.4267G>C (p.Ala1423Pro)
c.3848G>C
c.3409G>C (p.Ala1137Pro)
c.*1226G>C (n.*1226G>C)
c.4562G>C
c.5335G>C (p.Ala1779Pro)
c.5332G>C (p.Ala1778Pro)
c.5287G>C (p.Ala1763Pro)
c.4411G>C (p.Ala1471Pro)
c.4180G>C (p.Ala1394Pro)
10g.94298504G=CA1928998419PLCE1c.4369G= (p.Ala1457=)
c.*1836G= (n.*1836G=)
n.2028G=
n.712G=
c.*577G= (n.*577G=)
c.4321G= (p.Ala1441=)
n.9501G=
n.2966G=
c.5161G= (p.Ala1721=)
c.5245G= (p.Ala1749=)
c.5293G= (p.Ala1765=)
c.4267G= (p.Ala1423=)
c.3848G=
c.3409G= (p.Ala1137=)
c.*1226G= (n.*1226G=)
c.4562G=
c.5335G= (p.Ala1779=)
c.5332G= (p.Ala1778=)
c.5287G= (p.Ala1763=)
c.4411G= (p.Ala1471=)
c.4180G= (p.Ala1394=)
10g.94298504G>TCA377641920PLCE1c.4369G>T (p.Ala1457Ser)
c.*1836G>T (n.*1836G>T)
n.2028G>T
n.712G>T
c.*577G>T (n.*577G>T)
c.4321G>T (p.Ala1441Ser)
n.9501G>T
n.2966G>T
c.5161G>T (p.Ala1721Ser)
c.5245G>T (p.Ala1749Ser)
c.5293G>T (p.Ala1765Ser)
c.4267G>T (p.Ala1423Ser)
c.3848G>T
c.3409G>T (p.Ala1137Ser)
c.*1226G>T (n.*1226G>T)
c.4562G>T
c.5335G>T (p.Ala1779Ser)
c.5332G>T (p.Ala1778Ser)
c.5287G>T (p.Ala1763Ser)
c.4411G>T (p.Ala1471Ser)
c.4180G>T (p.Ala1394Ser)
10g.94298505C>ACA377641921PLCE1c.4370C>A (p.Ala1457Asp)
c.*1837C>A (n.*1837C>A)
n.2029C>A
n.713C>A
c.*578C>A (n.*578C>A)
c.4322C>A (p.Ala1441Asp)
n.9502C>A
n.2967C>A
c.5162C>A (p.Ala1721Asp)
c.5246C>A (p.Ala1749Asp)
c.5294C>A (p.Ala1765Asp)
c.4268C>A (p.Ala1423Asp)
c.3849C>A
c.3410C>A (p.Ala1137Asp)
c.*1227C>A (n.*1227C>A)
c.4563C>A
c.5336C>A (p.Ala1779Asp)
c.5333C>A (p.Ala1778Asp)
c.5288C>A (p.Ala1763Asp)
c.4412C>A (p.Ala1471Asp)
c.4181C>A (p.Ala1394Asp)
10g.94298505C>GCA377641922PLCE1c.4370C>G (p.Ala1457Gly)
c.*1837C>G (n.*1837C>G)
n.2029C>G
n.713C>G
c.*578C>G (n.*578C>G)
c.4322C>G (p.Ala1441Gly)
n.9502C>G
n.2967C>G
c.5162C>G (p.Ala1721Gly)
c.5246C>G (p.Ala1749Gly)
c.5294C>G (p.Ala1765Gly)
c.4268C>G (p.Ala1423Gly)
c.3849C>G
c.3410C>G (p.Ala1137Gly)
c.*1227C>G (n.*1227C>G)
c.4563C>G
c.5336C>G (p.Ala1779Gly)
c.5333C>G (p.Ala1778Gly)
c.5288C>G (p.Ala1763Gly)
c.4412C>G (p.Ala1471Gly)
c.4181C>G (p.Ala1394Gly)
10g.94298505C>TCA377641923PLCE1c.4370C>T (p.Ala1457Val)
c.*1837C>T (n.*1837C>T)
n.2029C>T
n.713C>T
c.*578C>T (n.*578C>T)
c.4322C>T (p.Ala1441Val)
n.9502C>T
n.2967C>T
c.5162C>T (p.Ala1721Val)
c.5246C>T (p.Ala1749Val)
c.5294C>T (p.Ala1765Val)
c.4268C>T (p.Ala1423Val)
c.3849C>T
c.3410C>T (p.Ala1137Val)
c.*1227C>T (n.*1227C>T)
c.4563C>T
c.5336C>T (p.Ala1779Val)
c.5333C>T (p.Ala1778Val)
c.5288C>T (p.Ala1763Val)
c.4412C>T (p.Ala1471Val)
c.4181C>T (p.Ala1394Val)
10g.94298506C>ACA470986513PLCE1c.4371C>A (p.Ala1457=)
c.*1838C>A (n.*1838C>A)
n.2030C>A
n.714C>A
c.*579C>A (n.*579C>A)
c.4323C>A (p.Ala1441=)
n.9503C>A
n.2968C>A
c.5163C>A (p.Ala1721=)
c.5247C>A (p.Ala1749=)
c.5295C>A (p.Ala1765=)
c.4269C>A (p.Ala1423=)
c.3850C>A
c.3411C>A (p.Ala1137=)
c.*1228C>A (n.*1228C>A)
c.4564C>A
c.5337C>A (p.Ala1779=)
c.5334C>A (p.Ala1778=)
c.5289C>A (p.Ala1763=)
c.4413C>A (p.Ala1471=)
c.4182C>A (p.Ala1394=)
10g.94298506C>GCA470986514PLCE1c.4371C>G (p.Ala1457=)
c.*1838C>G (n.*1838C>G)
n.2030C>G
n.714C>G
c.*579C>G (n.*579C>G)
c.4323C>G (p.Ala1441=)
n.9503C>G
n.2968C>G
c.5163C>G (p.Ala1721=)
c.5247C>G (p.Ala1749=)
c.5295C>G (p.Ala1765=)
c.4269C>G (p.Ala1423=)
c.3850C>G
c.3411C>G (p.Ala1137=)
c.*1228C>G (n.*1228C>G)
c.4564C>G
c.5337C>G (p.Ala1779=)
c.5334C>G (p.Ala1778=)
c.5289C>G (p.Ala1763=)
c.4413C>G (p.Ala1471=)
c.4182C>G (p.Ala1394=)
10g.94298506C>TCA470986515PLCE1c.4371C>T (p.Ala1457=)
c.*1838C>T (n.*1838C>T)
n.2030C>T
n.714C>T
c.*579C>T (n.*579C>T)
c.4323C>T (p.Ala1441=)
n.9503C>T
n.2968C>T
c.5163C>T (p.Ala1721=)
c.5247C>T (p.Ala1749=)
c.5295C>T (p.Ala1765=)
c.4269C>T (p.Ala1423=)
c.3850C>T
c.3411C>T (p.Ala1137=)
c.*1228C>T (n.*1228C>T)
c.4564C>T
c.5337C>T (p.Ala1779=)
c.5334C>T (p.Ala1778=)
c.5289C>T (p.Ala1763=)
c.4413C>T (p.Ala1471=)
c.4182C>T (p.Ala1394=)
gnomAD v4
10g.94298507A>CCA377641924PLCE1c.4372A>C (p.Lys1458Gln)
c.*1839A>C (n.*1839A>C)
n.2031A>C
n.715A>C
c.*580A>C (n.*580A>C)
c.4324A>C (p.Lys1442Gln)
n.9504A>C
n.2969A>C
c.5164A>C (p.Lys1722Gln)
c.5248A>C (p.Lys1750Gln)
c.5296A>C (p.Lys1766Gln)
c.4270A>C (p.Lys1424Gln)
c.3851A>C
c.3412A>C (p.Lys1138Gln)
c.*1229A>C (n.*1229A>C)
c.4565A>C
c.5338A>C (p.Lys1780Gln)
c.5335A>C (p.Lys1779Gln)
c.5290A>C (p.Lys1764Gln)
c.4414A>C (p.Lys1472Gln)
c.4183A>C (p.Lys1395Gln)
10g.94298507A>GCA377641925PLCE1c.4372A>G (p.Lys1458Glu)
c.*1839A>G (n.*1839A>G)
n.2031A>G
n.715A>G
c.*580A>G (n.*580A>G)
c.4324A>G (p.Lys1442Glu)
n.9504A>G
n.2969A>G
c.5164A>G (p.Lys1722Glu)
c.5248A>G (p.Lys1750Glu)
c.5296A>G (p.Lys1766Glu)
c.4270A>G (p.Lys1424Glu)
c.3851A>G
c.3412A>G (p.Lys1138Glu)
c.*1229A>G (n.*1229A>G)
c.4565A>G
c.5338A>G (p.Lys1780Glu)
c.5335A>G (p.Lys1779Glu)
c.5290A>G (p.Lys1764Glu)
c.4414A>G (p.Lys1472Glu)
c.4183A>G (p.Lys1395Glu)
10g.94298507A>TCA377641926PLCE1c.4372A>T (p.Lys1458Ter)
c.*1839A>T (n.*1839A>T)
n.2031A>T
n.715A>T
c.*580A>T (n.*580A>T)
c.4324A>T (p.Lys1442Ter)
n.9504A>T
n.2969A>T
c.5164A>T (p.Lys1722Ter)
c.5248A>T (p.Lys1750Ter)
c.5296A>T (p.Lys1766Ter)
c.4270A>T (p.Lys1424Ter)
c.3851A>T
c.3412A>T (p.Lys1138Ter)
c.*1229A>T (n.*1229A>T)
c.4565A>T
c.5338A>T (p.Lys1780Ter)
c.5335A>T (p.Lys1779Ter)
c.5290A>T (p.Lys1764Ter)
c.4414A>T (p.Lys1472Ter)
c.4183A>T (p.Lys1395Ter)
10g.94298508A>CCA377641927PLCE1c.4373A>C (p.Lys1458Thr)
c.*1840A>C (n.*1840A>C)
n.2032A>C
n.716A>C
c.*581A>C (n.*581A>C)
c.4325A>C (p.Lys1442Thr)
n.9505A>C
n.2970A>C
c.5165A>C (p.Lys1722Thr)
c.5249A>C (p.Lys1750Thr)
c.5297A>C (p.Lys1766Thr)
c.4271A>C (p.Lys1424Thr)
c.3852A>C
c.3413A>C (p.Lys1138Thr)
c.*1230A>C (n.*1230A>C)
c.4566A>C
c.5339A>C (p.Lys1780Thr)
c.5336A>C (p.Lys1779Thr)
c.5291A>C (p.Lys1764Thr)
c.4415A>C (p.Lys1472Thr)
c.4184A>C (p.Lys1395Thr)
10g.94298508A>GCA377641929PLCE1c.4373A>G (p.Lys1458Arg)
c.*1840A>G (n.*1840A>G)
n.2032A>G
n.716A>G
c.*581A>G (n.*581A>G)
c.4325A>G (p.Lys1442Arg)
n.9505A>G
n.2970A>G
c.5165A>G (p.Lys1722Arg)
c.5249A>G (p.Lys1750Arg)
c.5297A>G (p.Lys1766Arg)
c.4271A>G (p.Lys1424Arg)
c.3852A>G
c.3413A>G (p.Lys1138Arg)
c.*1230A>G (n.*1230A>G)
c.4566A>G
c.5339A>G (p.Lys1780Arg)
c.5336A>G (p.Lys1779Arg)
c.5291A>G (p.Lys1764Arg)
c.4415A>G (p.Lys1472Arg)
c.4184A>G (p.Lys1395Arg)
10g.94298508A>TCA377641928PLCE1c.4373A>T (p.Lys1458Ile)
c.*1840A>T (n.*1840A>T)
n.2032A>T
n.716A>T
c.*581A>T (n.*581A>T)
c.4325A>T (p.Lys1442Ile)
n.9505A>T
n.2970A>T
c.5165A>T (p.Lys1722Ile)
c.5249A>T (p.Lys1750Ile)
c.5297A>T (p.Lys1766Ile)
c.4271A>T (p.Lys1424Ile)
c.3852A>T
c.3413A>T (p.Lys1138Ile)
c.*1230A>T (n.*1230A>T)
c.4566A>T
c.5339A>T (p.Lys1780Ile)
c.5336A>T (p.Lys1779Ile)
c.5291A>T (p.Lys1764Ile)
c.4415A>T (p.Lys1472Ile)
c.4184A>T (p.Lys1395Ile)
10g.94298509A>CCA377641930PLCE1c.4374A>C (p.Lys1458Asn)
c.*1841A>C (n.*1841A>C)
n.2033A>C
n.717A>C
c.*582A>C (n.*582A>C)
c.4326A>C (p.Lys1442Asn)
n.9506A>C
n.2971A>C
c.5166A>C (p.Lys1722Asn)
c.5250A>C (p.Lys1750Asn)
c.5298A>C (p.Lys1766Asn)
c.4272A>C (p.Lys1424Asn)
c.3853A>C
c.3414A>C (p.Lys1138Asn)
c.*1231A>C (n.*1231A>C)
c.4567A>C
c.5340A>C (p.Lys1780Asn)
c.5337A>C (p.Lys1779Asn)
c.5292A>C (p.Lys1764Asn)
c.4416A>C (p.Lys1472Asn)
c.4185A>C (p.Lys1395Asn)
10g.94298509A>GCA470986519PLCE1c.4374A>G (p.Lys1458=)
c.*1841A>G (n.*1841A>G)
n.2033A>G
n.717A>G
c.*582A>G (n.*582A>G)
c.4326A>G (p.Lys1442=)
n.9506A>G
n.2971A>G
c.5166A>G (p.Lys1722=)
c.5250A>G (p.Lys1750=)
c.5298A>G (p.Lys1766=)
c.4272A>G (p.Lys1424=)
c.3853A>G
c.3414A>G (p.Lys1138=)
c.*1231A>G (n.*1231A>G)
c.4567A>G
c.5340A>G (p.Lys1780=)
c.5337A>G (p.Lys1779=)
c.5292A>G (p.Lys1764=)
c.4416A>G (p.Lys1472=)
c.4185A>G (p.Lys1395=)
10g.94298509A>TCA377641931PLCE1c.4374A>T (p.Lys1458Asn)
c.*1841A>T (n.*1841A>T)
n.2033A>T
n.717A>T
c.*582A>T (n.*582A>T)
c.4326A>T (p.Lys1442Asn)
n.9506A>T
n.2971A>T
c.5166A>T (p.Lys1722Asn)
c.5250A>T (p.Lys1750Asn)
c.5298A>T (p.Lys1766Asn)
c.4272A>T (p.Lys1424Asn)
c.3853A>T
c.3414A>T (p.Lys1138Asn)
c.*1231A>T (n.*1231A>T)
c.4567A>T
c.5340A>T (p.Lys1780Asn)
c.5337A>T (p.Lys1779Asn)
c.5292A>T (p.Lys1764Asn)
c.4416A>T (p.Lys1472Asn)
c.4185A>T (p.Lys1395Asn)
10g.94298510C>ACA377641932PLCE1c.4375C>A (p.Arg1459Ser)
c.*1842C>A (n.*1842C>A)
n.2034C>A
n.718C>A
c.*583C>A (n.*583C>A)
c.4327C>A (p.Arg1443Ser)
n.9507C>A
n.2972C>A
c.5167C>A (p.Arg1723Ser)
c.5251C>A (p.Arg1751Ser)
c.5299C>A (p.Arg1767Ser)
c.4273C>A (p.Arg1425Ser)
c.3854C>A
c.3415C>A (p.Arg1139Ser)
c.*1232C>A (n.*1232C>A)
c.4568C>A
c.5341C>A (p.Arg1781Ser)
c.5338C>A (p.Arg1780Ser)
c.5293C>A (p.Arg1765Ser)
c.4417C>A (p.Arg1473Ser)
c.4186C>A (p.Arg1396Ser)
10g.94298510C>GCA377641933PLCE1c.4375C>G (p.Arg1459Gly)
c.*1842C>G (n.*1842C>G)
n.2034C>G
n.718C>G
c.*583C>G (n.*583C>G)
c.4327C>G (p.Arg1443Gly)
n.9507C>G
n.2972C>G
c.5167C>G (p.Arg1723Gly)
c.5251C>G (p.Arg1751Gly)
c.5299C>G (p.Arg1767Gly)
c.4273C>G (p.Arg1425Gly)
c.3854C>G
c.3415C>G (p.Arg1139Gly)
c.*1232C>G (n.*1232C>G)
c.4568C>G
c.5341C>G (p.Arg1781Gly)
c.5338C>G (p.Arg1780Gly)
c.5293C>G (p.Arg1765Gly)
c.4417C>G (p.Arg1473Gly)
c.4186C>G (p.Arg1396Gly)
10g.94298510C>TCA377641934PLCE1c.4375C>T (p.Arg1459Cys)
c.*1842C>T (n.*1842C>T)
n.2034C>T
n.718C>T
c.*583C>T (n.*583C>T)
c.4327C>T (p.Arg1443Cys)
n.9507C>T
n.2972C>T
c.5167C>T (p.Arg1723Cys)
c.5251C>T (p.Arg1751Cys)
c.5299C>T (p.Arg1767Cys)
c.4273C>T (p.Arg1425Cys)
c.3854C>T
c.3415C>T (p.Arg1139Cys)
c.*1232C>T (n.*1232C>T)
c.4568C>T
c.5341C>T (p.Arg1781Cys)
c.5338C>T (p.Arg1780Cys)
c.5293C>T (p.Arg1765Cys)
c.4417C>T (p.Arg1473Cys)
c.4186C>T (p.Arg1396Cys)
dbSNP gnomAD v4
10g.94298511G>ACA5613331PLCE1c.4376G>A (p.Arg1459His)
c.*1843G>A (n.*1843G>A)
n.2035G>A
n.719G>A
c.*584G>A (n.*584G>A)
c.4328G>A (p.Arg1443His)
n.9508G>A
n.2973G>A
c.5168G>A (p.Arg1723His)
c.5252G>A (p.Arg1751His)
c.5300G>A (p.Arg1767His)
c.4274G>A (p.Arg1425His)
c.3855G>A
c.3416G>A (p.Arg1139His)
c.*1233G>A (n.*1233G>A)
c.4569G>A
c.5342G>A (p.Arg1781His)
c.5339G>A (p.Arg1780His)
c.5294G>A (p.Arg1765His)
c.4418G>A (p.Arg1473His)
c.4187G>A (p.Arg1396His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298511G>CCA377641935PLCE1c.4376G>C (p.Arg1459Pro)
c.*1843G>C (n.*1843G>C)
n.2035G>C
n.719G>C
c.*584G>C (n.*584G>C)
c.4328G>C (p.Arg1443Pro)
n.9508G>C
n.2973G>C
c.5168G>C (p.Arg1723Pro)
c.5252G>C (p.Arg1751Pro)
c.5300G>C (p.Arg1767Pro)
c.4274G>C (p.Arg1425Pro)
c.3855G>C
c.3416G>C (p.Arg1139Pro)
c.*1233G>C (n.*1233G>C)
c.4569G>C
c.5342G>C (p.Arg1781Pro)
c.5339G>C (p.Arg1780Pro)
c.5294G>C (p.Arg1765Pro)
c.4418G>C (p.Arg1473Pro)
c.4187G>C (p.Arg1396Pro)
10g.94298511G=CA1928998420PLCE1c.4376G= (p.Arg1459=)
c.*1843G= (n.*1843G=)
n.2035G=
n.719G=
c.*584G= (n.*584G=)
c.4328G= (p.Arg1443=)
n.9508G=
n.2973G=
c.5168G= (p.Arg1723=)
c.5252G= (p.Arg1751=)
c.5300G= (p.Arg1767=)
c.4274G= (p.Arg1425=)
c.3855G=
c.3416G= (p.Arg1139=)
c.*1233G= (n.*1233G=)
c.4569G=
c.5342G= (p.Arg1781=)
c.5339G= (p.Arg1780=)
c.5294G= (p.Arg1765=)
c.4418G= (p.Arg1473=)
c.4187G= (p.Arg1396=)
10g.94298511G>TCA377641936PLCE1c.4376G>T (p.Arg1459Leu)
c.*1843G>T (n.*1843G>T)
n.2035G>T
n.719G>T
c.*584G>T (n.*584G>T)
c.4328G>T (p.Arg1443Leu)
n.9508G>T
n.2973G>T
c.5168G>T (p.Arg1723Leu)
c.5252G>T (p.Arg1751Leu)
c.5300G>T (p.Arg1767Leu)
c.4274G>T (p.Arg1425Leu)
c.3855G>T
c.3416G>T (p.Arg1139Leu)
c.*1233G>T (n.*1233G>T)
c.4569G>T
c.5342G>T (p.Arg1781Leu)
c.5339G>T (p.Arg1780Leu)
c.5294G>T (p.Arg1765Leu)
c.4418G>T (p.Arg1473Leu)
c.4187G>T (p.Arg1396Leu)
gnomAD v4
10g.94298512T>ACA5613332PLCE1c.4377T>A (p.Arg1459=)
c.*1844T>A (n.*1844T>A)
n.2036T>A
n.720T>A
c.*585T>A (n.*585T>A)
c.4329T>A (p.Arg1443=)
n.9509T>A
n.2974T>A
c.5169T>A (p.Arg1723=)
c.5253T>A (p.Arg1751=)
c.5301T>A (p.Arg1767=)
c.4275T>A (p.Arg1425=)
c.3856T>A
c.3417T>A (p.Arg1139=)
c.*1234T>A (n.*1234T>A)
c.4570T>A
c.5343T>A (p.Arg1781=)
c.5340T>A (p.Arg1780=)
c.5295T>A (p.Arg1765=)
c.4419T>A (p.Arg1473=)
c.4188T>A (p.Arg1396=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298512T>CCA470986521PLCE1c.4377T>C (p.Arg1459=)
c.*1844T>C (n.*1844T>C)
n.2036T>C
n.720T>C
c.*585T>C (n.*585T>C)
c.4329T>C (p.Arg1443=)
n.9509T>C
n.2974T>C
c.5169T>C (p.Arg1723=)
c.5253T>C (p.Arg1751=)
c.5301T>C (p.Arg1767=)
c.4275T>C (p.Arg1425=)
c.3856T>C
c.3417T>C (p.Arg1139=)
c.*1234T>C (n.*1234T>C)
c.4570T>C
c.5343T>C (p.Arg1781=)
c.5340T>C (p.Arg1780=)
c.5295T>C (p.Arg1765=)
c.4419T>C (p.Arg1473=)
c.4188T>C (p.Arg1396=)
10g.94298512T>GCA470986522PLCE1c.4377T>G (p.Arg1459=)
c.*1844T>G (n.*1844T>G)
n.2036T>G
n.720T>G
c.*585T>G (n.*585T>G)
c.4329T>G (p.Arg1443=)
n.9509T>G
n.2974T>G
c.5169T>G (p.Arg1723=)
c.5253T>G (p.Arg1751=)
c.5301T>G (p.Arg1767=)
c.4275T>G (p.Arg1425=)
c.3856T>G
c.3417T>G (p.Arg1139=)
c.*1234T>G (n.*1234T>G)
c.4570T>G
c.5343T>G (p.Arg1781=)
c.5340T>G (p.Arg1780=)
c.5295T>G (p.Arg1765=)
c.4419T>G (p.Arg1473=)
c.4188T>G (p.Arg1396=)
10g.94298512T=CA1928998421PLCE1c.4377T= (p.Arg1459=)
c.*1844T= (n.*1844T=)
n.2036T=
n.720T=
c.*585T= (n.*585T=)
c.4329T= (p.Arg1443=)
n.9509T=
n.2974T=
c.5169T= (p.Arg1723=)
c.5253T= (p.Arg1751=)
c.5301T= (p.Arg1767=)
c.4275T= (p.Arg1425=)
c.3856T=
c.3417T= (p.Arg1139=)
c.*1234T= (n.*1234T=)
c.4570T=
c.5343T= (p.Arg1781=)
c.5340T= (p.Arg1780=)
c.5295T= (p.Arg1765=)
c.4419T= (p.Arg1473=)
c.4188T= (p.Arg1396=)
10g.94298513C>ACA377641937PLCE1c.4378C>A (p.Leu1460Met)
c.*1845C>A (n.*1845C>A)
n.2037C>A
n.721C>A
c.*586C>A (n.*586C>A)
c.4330C>A (p.Leu1444Met)
n.9510C>A
n.2975C>A
c.5170C>A (p.Leu1724Met)
c.5254C>A (p.Leu1752Met)
c.5302C>A (p.Leu1768Met)
c.4276C>A (p.Leu1426Met)
c.3857C>A
c.3418C>A (p.Leu1140Met)
c.*1235C>A (n.*1235C>A)
c.4571C>A
c.5344C>A (p.Leu1782Met)
c.5341C>A (p.Leu1781Met)
c.5296C>A (p.Leu1766Met)
c.4420C>A (p.Leu1474Met)
c.4189C>A (p.Leu1397Met)
10g.94298513C>GCA377641938PLCE1c.4378C>G (p.Leu1460Val)
c.*1845C>G (n.*1845C>G)
n.2037C>G
n.721C>G
c.*586C>G (n.*586C>G)
c.4330C>G (p.Leu1444Val)
n.9510C>G
n.2975C>G
c.5170C>G (p.Leu1724Val)
c.5254C>G (p.Leu1752Val)
c.5302C>G (p.Leu1768Val)
c.4276C>G (p.Leu1426Val)
c.3857C>G
c.3418C>G (p.Leu1140Val)
c.*1235C>G (n.*1235C>G)
c.4571C>G
c.5344C>G (p.Leu1782Val)
c.5341C>G (p.Leu1781Val)
c.5296C>G (p.Leu1766Val)
c.4420C>G (p.Leu1474Val)
c.4189C>G (p.Leu1397Val)
gnomAD v4
10g.94298513C>TCA470986523PLCE1c.4378C>T (p.Leu1460=)
c.*1845C>T (n.*1845C>T)
n.2037C>T
n.721C>T
c.*586C>T (n.*586C>T)
c.4330C>T (p.Leu1444=)
n.9510C>T
n.2975C>T
c.5170C>T (p.Leu1724=)
c.5254C>T (p.Leu1752=)
c.5302C>T (p.Leu1768=)
c.4276C>T (p.Leu1426=)
c.3857C>T
c.3418C>T (p.Leu1140=)
c.*1235C>T (n.*1235C>T)
c.4571C>T
c.5344C>T (p.Leu1782=)
c.5341C>T (p.Leu1781=)
c.5296C>T (p.Leu1766=)
c.4420C>T (p.Leu1474=)
c.4189C>T (p.Leu1397=)
gnomAD v4
10g.94298514T>ACA377641940PLCE1c.4379T>A (p.Leu1460Gln)
c.*1846T>A (n.*1846T>A)
n.2038T>A
n.722T>A
c.*587T>A (n.*587T>A)
c.4331T>A (p.Leu1444Gln)
n.9511T>A
n.2976T>A
c.5171T>A (p.Leu1724Gln)
c.5255T>A (p.Leu1752Gln)
c.5303T>A (p.Leu1768Gln)
c.4277T>A (p.Leu1426Gln)
c.3858T>A
c.3419T>A (p.Leu1140Gln)
c.*1236T>A (n.*1236T>A)
c.4572T>A
c.5345T>A (p.Leu1782Gln)
c.5342T>A (p.Leu1781Gln)
c.5297T>A (p.Leu1766Gln)
c.4421T>A (p.Leu1474Gln)
c.4190T>A (p.Leu1397Gln)
10g.94298514T>CCA377641941PLCE1c.4379T>C (p.Leu1460Pro)
c.*1846T>C (n.*1846T>C)
n.2038T>C
n.722T>C
c.*587T>C (n.*587T>C)
c.4331T>C (p.Leu1444Pro)
n.9511T>C
n.2976T>C
c.5171T>C (p.Leu1724Pro)
c.5255T>C (p.Leu1752Pro)
c.5303T>C (p.Leu1768Pro)
c.4277T>C (p.Leu1426Pro)
c.3858T>C
c.3419T>C (p.Leu1140Pro)
c.*1236T>C (n.*1236T>C)
c.4572T>C
c.5345T>C (p.Leu1782Pro)
c.5342T>C (p.Leu1781Pro)
c.5297T>C (p.Leu1766Pro)
c.4421T>C (p.Leu1474Pro)
c.4190T>C (p.Leu1397Pro)
10g.94298514T>GCA377641939PLCE1c.4379T>G (p.Leu1460Arg)
c.*1846T>G (n.*1846T>G)
n.2038T>G
n.722T>G
c.*587T>G (n.*587T>G)
c.4331T>G (p.Leu1444Arg)
n.9511T>G
n.2976T>G
c.5171T>G (p.Leu1724Arg)
c.5255T>G (p.Leu1752Arg)
c.5303T>G (p.Leu1768Arg)
c.4277T>G (p.Leu1426Arg)
c.3858T>G
c.3419T>G (p.Leu1140Arg)
c.*1236T>G (n.*1236T>G)
c.4572T>G
c.5345T>G (p.Leu1782Arg)
c.5342T>G (p.Leu1781Arg)
c.5297T>G (p.Leu1766Arg)
c.4421T>G (p.Leu1474Arg)
c.4190T>G (p.Leu1397Arg)
10g.94298515G>ACA470986525PLCE1c.4380G>A (p.Leu1460=)
c.*1847G>A (n.*1847G>A)
n.2039G>A
n.723G>A
c.*588G>A (n.*588G>A)
c.4332G>A (p.Leu1444=)
n.9512G>A
n.2977G>A
c.5172G>A (p.Leu1724=)
c.5256G>A (p.Leu1752=)
c.5304G>A (p.Leu1768=)
c.4278G>A (p.Leu1426=)
c.3859G>A
c.3420G>A (p.Leu1140=)
c.*1237G>A (n.*1237G>A)
c.4573G>A
c.5346G>A (p.Leu1782=)
c.5343G>A (p.Leu1781=)
c.5298G>A (p.Leu1766=)
c.4422G>A (p.Leu1474=)
c.4191G>A (p.Leu1397=)
gnomAD v4
10g.94298515G>CCA5613333PLCE1c.4380G>C (p.Leu1460=)
c.*1847G>C (n.*1847G>C)
n.2039G>C
n.723G>C
c.*588G>C (n.*588G>C)
c.4332G>C (p.Leu1444=)
n.9512G>C
n.2977G>C
c.5172G>C (p.Leu1724=)
c.5256G>C (p.Leu1752=)
c.5304G>C (p.Leu1768=)
c.4278G>C (p.Leu1426=)
c.3859G>C
c.3420G>C (p.Leu1140=)
c.*1237G>C (n.*1237G>C)
c.4573G>C
c.5346G>C (p.Leu1782=)
c.5343G>C (p.Leu1781=)
c.5298G>C (p.Leu1766=)
c.4422G>C (p.Leu1474=)
c.4191G>C (p.Leu1397=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298515G=CA1928998422PLCE1c.4380G= (p.Leu1460=)
c.*1847G= (n.*1847G=)
n.2039G=
n.723G=
c.*588G= (n.*588G=)
c.4332G= (p.Leu1444=)
n.9512G=
n.2977G=
c.5172G= (p.Leu1724=)
c.5256G= (p.Leu1752=)
c.5304G= (p.Leu1768=)
c.4278G= (p.Leu1426=)
c.3859G=
c.3420G= (p.Leu1140=)
c.*1237G= (n.*1237G=)
c.4573G=
c.5346G= (p.Leu1782=)
c.5343G= (p.Leu1781=)
c.5298G= (p.Leu1766=)
c.4422G= (p.Leu1474=)
c.4191G= (p.Leu1397=)
10g.94298515G>TCA470986526PLCE1c.4380G>T (p.Leu1460=)
c.*1847G>T (n.*1847G>T)
n.2039G>T
n.723G>T
c.*588G>T (n.*588G>T)
c.4332G>T (p.Leu1444=)
n.9512G>T
n.2977G>T
c.5172G>T (p.Leu1724=)
c.5256G>T (p.Leu1752=)
c.5304G>T (p.Leu1768=)
c.4278G>T (p.Leu1426=)
c.3859G>T
c.3420G>T (p.Leu1140=)
c.*1237G>T (n.*1237G>T)
c.4573G>T
c.5346G>T (p.Leu1782=)
c.5343G>T (p.Leu1781=)
c.5298G>T (p.Leu1766=)
c.4422G>T (p.Leu1474=)
c.4191G>T (p.Leu1397=)
10g.94298516T>ACA377641942PLCE1c.4381T>A (p.Cys1461Ser)
c.*1848T>A (n.*1848T>A)
n.2040T>A
n.724T>A
c.*589T>A (n.*589T>A)
c.4333T>A (p.Cys1445Ser)
n.9513T>A
n.2978T>A
c.5173T>A (p.Cys1725Ser)
c.5257T>A (p.Cys1753Ser)
c.5305T>A (p.Cys1769Ser)
c.4279T>A (p.Cys1427Ser)
c.3860T>A
c.3421T>A (p.Cys1141Ser)
c.*1238T>A (n.*1238T>A)
c.4574T>A
c.5347T>A (p.Cys1783Ser)
c.5344T>A (p.Cys1782Ser)
c.5299T>A (p.Cys1767Ser)
c.4423T>A (p.Cys1475Ser)
c.4192T>A (p.Cys1398Ser)
10g.94298516T>CCA377641943PLCE1c.4381T>C (p.Cys1461Arg)
c.*1848T>C (n.*1848T>C)
n.2040T>C
n.724T>C
c.*589T>C (n.*589T>C)
c.4333T>C (p.Cys1445Arg)
n.9513T>C
n.2978T>C
c.5173T>C (p.Cys1725Arg)
c.5257T>C (p.Cys1753Arg)
c.5305T>C (p.Cys1769Arg)
c.4279T>C (p.Cys1427Arg)
c.3860T>C
c.3421T>C (p.Cys1141Arg)
c.*1238T>C (n.*1238T>C)
c.4574T>C
c.5347T>C (p.Cys1783Arg)
c.5344T>C (p.Cys1782Arg)
c.5299T>C (p.Cys1767Arg)
c.4423T>C (p.Cys1475Arg)
c.4192T>C (p.Cys1398Arg)
10g.94298516T>GCA377641944PLCE1c.4381T>G (p.Cys1461Gly)
c.*1848T>G (n.*1848T>G)
n.2040T>G
n.724T>G
c.*589T>G (n.*589T>G)
c.4333T>G (p.Cys1445Gly)
n.9513T>G
n.2978T>G
c.5173T>G (p.Cys1725Gly)
c.5257T>G (p.Cys1753Gly)
c.5305T>G (p.Cys1769Gly)
c.4279T>G (p.Cys1427Gly)
c.3860T>G
c.3421T>G (p.Cys1141Gly)
c.*1238T>G (n.*1238T>G)
c.4574T>G
c.5347T>G (p.Cys1783Gly)
c.5344T>G (p.Cys1782Gly)
c.5299T>G (p.Cys1767Gly)
c.4423T>G (p.Cys1475Gly)
c.4192T>G (p.Cys1398Gly)
10g.94298517G>ACA377641945PLCE1c.4382G>A (p.Cys1461Tyr)
c.*1849G>A (n.*1849G>A)
n.2041G>A
n.725G>A
c.*590G>A (n.*590G>A)
c.4334G>A (p.Cys1445Tyr)
n.9514G>A
n.2979G>A
c.5174G>A (p.Cys1725Tyr)
c.5258G>A (p.Cys1753Tyr)
c.5306G>A (p.Cys1769Tyr)
c.4280G>A (p.Cys1427Tyr)
c.3861G>A
c.3422G>A (p.Cys1141Tyr)
c.*1239G>A (n.*1239G>A)
c.4575G>A
c.5348G>A (p.Cys1783Tyr)
c.5345G>A (p.Cys1782Tyr)
c.5300G>A (p.Cys1767Tyr)
c.4424G>A (p.Cys1475Tyr)
c.4193G>A (p.Cys1398Tyr)
gnomAD v4
10g.94298517G>CCA377641946PLCE1c.4382G>C (p.Cys1461Ser)
c.*1849G>C (n.*1849G>C)
n.2041G>C
n.725G>C
c.*590G>C (n.*590G>C)
c.4334G>C (p.Cys1445Ser)
n.9514G>C
n.2979G>C
c.5174G>C (p.Cys1725Ser)
c.5258G>C (p.Cys1753Ser)
c.5306G>C (p.Cys1769Ser)
c.4280G>C (p.Cys1427Ser)
c.3861G>C
c.3422G>C (p.Cys1141Ser)
c.*1239G>C (n.*1239G>C)
c.4575G>C
c.5348G>C (p.Cys1783Ser)
c.5345G>C (p.Cys1782Ser)
c.5300G>C (p.Cys1767Ser)
c.4424G>C (p.Cys1475Ser)
c.4193G>C (p.Cys1398Ser)
10g.94298517G>TCA377641947PLCE1c.4382G>T (p.Cys1461Phe)
c.*1849G>T (n.*1849G>T)
n.2041G>T
n.725G>T
c.*590G>T (n.*590G>T)
c.4334G>T (p.Cys1445Phe)
n.9514G>T
n.2979G>T
c.5174G>T (p.Cys1725Phe)
c.5258G>T (p.Cys1753Phe)
c.5306G>T (p.Cys1769Phe)
c.4280G>T (p.Cys1427Phe)
c.3861G>T
c.3422G>T (p.Cys1141Phe)
c.*1239G>T (n.*1239G>T)
c.4575G>T
c.5348G>T (p.Cys1783Phe)
c.5345G>T (p.Cys1782Phe)
c.5300G>T (p.Cys1767Phe)
c.4424G>T (p.Cys1475Phe)
c.4193G>T (p.Cys1398Phe)
10g.94298518T>ACA377641948PLCE1c.4383T>A (p.Cys1461Ter)
c.*1850T>A (n.*1850T>A)
n.2042T>A
n.726T>A
c.*591T>A (n.*591T>A)
c.4335T>A (p.Cys1445Ter)
n.9515T>A
n.2980T>A
c.5175T>A (p.Cys1725Ter)
c.5259T>A (p.Cys1753Ter)
c.5307T>A (p.Cys1769Ter)
c.4281T>A (p.Cys1427Ter)
c.3862T>A
c.3423T>A (p.Cys1141Ter)
c.*1240T>A (n.*1240T>A)
c.4576T>A
c.5349T>A (p.Cys1783Ter)
c.5346T>A (p.Cys1782Ter)
c.5301T>A (p.Cys1767Ter)
c.4425T>A (p.Cys1475Ter)
c.4194T>A (p.Cys1398Ter)
10g.94298518T>CCA470986528PLCE1c.4383T>C (p.Cys1461=)
c.*1850T>C (n.*1850T>C)
n.2042T>C
n.726T>C
c.*591T>C (n.*591T>C)
c.4335T>C (p.Cys1445=)
n.9515T>C
n.2980T>C
c.5175T>C (p.Cys1725=)
c.5259T>C (p.Cys1753=)
c.5307T>C (p.Cys1769=)
c.4281T>C (p.Cys1427=)
c.3862T>C
c.3423T>C (p.Cys1141=)
c.*1240T>C (n.*1240T>C)
c.4576T>C
c.5349T>C (p.Cys1783=)
c.5346T>C (p.Cys1782=)
c.5301T>C (p.Cys1767=)
c.4425T>C (p.Cys1475=)
c.4194T>C (p.Cys1398=)
COSMIC COSMIC COSMIC COSMIC
10g.94298518T>GCA377641949PLCE1c.4383T>G (p.Cys1461Trp)
c.*1850T>G (n.*1850T>G)
n.2042T>G
n.726T>G
c.*591T>G (n.*591T>G)
c.4335T>G (p.Cys1445Trp)
n.9515T>G
n.2980T>G
c.5175T>G (p.Cys1725Trp)
c.5259T>G (p.Cys1753Trp)
c.5307T>G (p.Cys1769Trp)
c.4281T>G (p.Cys1427Trp)
c.3862T>G
c.3423T>G (p.Cys1141Trp)
c.*1240T>G (n.*1240T>G)
c.4576T>G
c.5349T>G (p.Cys1783Trp)
c.5346T>G (p.Cys1782Trp)
c.5301T>G (p.Cys1767Trp)
c.4425T>G (p.Cys1475Trp)
c.4194T>G (p.Cys1398Trp)
10g.94298519C>ACA377641950PLCE1c.4384C>A (p.Arg1462Ser)
c.*1851C>A (n.*1851C>A)
n.2043C>A
n.727C>A
c.*592C>A (n.*592C>A)
c.4336C>A (p.Arg1446Ser)
n.9516C>A
n.2981C>A
c.5176C>A (p.Arg1726Ser)
c.5260C>A (p.Arg1754Ser)
c.5308C>A (p.Arg1770Ser)
c.4282C>A (p.Arg1428Ser)
c.3863C>A
c.3424C>A (p.Arg1142Ser)
c.*1241C>A (n.*1241C>A)
c.4577C>A
c.5350C>A (p.Arg1784Ser)
c.5347C>A (p.Arg1783Ser)
c.5302C>A (p.Arg1768Ser)
c.4426C>A (p.Arg1476Ser)
c.4195C>A (p.Arg1399Ser)
10g.94298519C=CA1928998423PLCE1c.4384C= (p.Arg1462=)
c.*1851C= (n.*1851C=)
n.2043C=
n.727C=
c.*592C= (n.*592C=)
c.4336C= (p.Arg1446=)
n.9516C=
n.2981C=
c.5176C= (p.Arg1726=)
c.5260C= (p.Arg1754=)
c.5308C= (p.Arg1770=)
c.4282C= (p.Arg1428=)
c.3863C=
c.3424C= (p.Arg1142=)
c.*1241C= (n.*1241C=)
c.4577C=
c.5350C= (p.Arg1784=)
c.5347C= (p.Arg1783=)
c.5302C= (p.Arg1768=)
c.4426C= (p.Arg1476=)
c.4195C= (p.Arg1399=)
10g.94298519C>GCA377641951PLCE1c.4384C>G (p.Arg1462Gly)
c.*1851C>G (n.*1851C>G)
n.2043C>G
n.727C>G
c.*592C>G (n.*592C>G)
c.4336C>G (p.Arg1446Gly)
n.9516C>G
n.2981C>G
c.5176C>G (p.Arg1726Gly)
c.5260C>G (p.Arg1754Gly)
c.5308C>G (p.Arg1770Gly)
c.4282C>G (p.Arg1428Gly)
c.3863C>G
c.3424C>G (p.Arg1142Gly)
c.*1241C>G (n.*1241C>G)
c.4577C>G
c.5350C>G (p.Arg1784Gly)
c.5347C>G (p.Arg1783Gly)
c.5302C>G (p.Arg1768Gly)
c.4426C>G (p.Arg1476Gly)
c.4195C>G (p.Arg1399Gly)
10g.94298519C>TCA5613334PLCE1c.4384C>T (p.Arg1462Cys)
c.*1851C>T (n.*1851C>T)
n.2043C>T
n.727C>T
c.*592C>T (n.*592C>T)
c.4336C>T (p.Arg1446Cys)
n.9516C>T
n.2981C>T
c.5176C>T (p.Arg1726Cys)
c.5260C>T (p.Arg1754Cys)
c.5308C>T (p.Arg1770Cys)
c.4282C>T (p.Arg1428Cys)
c.3863C>T
c.3424C>T (p.Arg1142Cys)
c.*1241C>T (n.*1241C>T)
c.4577C>T
c.5350C>T (p.Arg1784Cys)
c.5347C>T (p.Arg1783Cys)
c.5302C>T (p.Arg1768Cys)
c.4426C>T (p.Arg1476Cys)
c.4195C>T (p.Arg1399Cys)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
10g.94298520G>ACA5613335PLCE1c.4385G>A (p.Arg1462His)
c.*1852G>A (n.*1852G>A)
n.2044G>A
n.728G>A
c.*593G>A (n.*593G>A)
c.4337G>A (p.Arg1446His)
n.9517G>A
n.2982G>A
c.5177G>A (p.Arg1726His)
c.5261G>A (p.Arg1754His)
c.5309G>A (p.Arg1770His)
c.4283G>A (p.Arg1428His)
c.3864G>A
c.3425G>A (p.Arg1142His)
c.*1242G>A (n.*1242G>A)
c.4578G>A
c.5351G>A (p.Arg1784His)
c.5348G>A (p.Arg1783His)
c.5303G>A (p.Arg1768His)
c.4427G>A (p.Arg1476His)
c.4196G>A (p.Arg1399His)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298520G>CCA377641952PLCE1c.4385G>C (p.Arg1462Pro)
c.*1852G>C (n.*1852G>C)
n.2044G>C
n.728G>C
c.*593G>C (n.*593G>C)
c.4337G>C (p.Arg1446Pro)
n.9517G>C
n.2982G>C
c.5177G>C (p.Arg1726Pro)
c.5261G>C (p.Arg1754Pro)
c.5309G>C (p.Arg1770Pro)
c.4283G>C (p.Arg1428Pro)
c.3864G>C
c.3425G>C (p.Arg1142Pro)
c.*1242G>C (n.*1242G>C)
c.4578G>C
c.5351G>C (p.Arg1784Pro)
c.5348G>C (p.Arg1783Pro)
c.5303G>C (p.Arg1768Pro)
c.4427G>C (p.Arg1476Pro)
c.4196G>C (p.Arg1399Pro)
10g.94298520G=CA1928998424PLCE1c.4385G= (p.Arg1462=)
c.*1852G= (n.*1852G=)
n.2044G=
n.728G=
c.*593G= (n.*593G=)
c.4337G= (p.Arg1446=)
n.9517G=
n.2982G=
c.5177G= (p.Arg1726=)
c.5261G= (p.Arg1754=)
c.5309G= (p.Arg1770=)
c.4283G= (p.Arg1428=)
c.3864G=
c.3425G= (p.Arg1142=)
c.*1242G= (n.*1242G=)
c.4578G=
c.5351G= (p.Arg1784=)
c.5348G= (p.Arg1783=)
c.5303G= (p.Arg1768=)
c.4427G= (p.Arg1476=)
c.4196G= (p.Arg1399=)
10g.94298520G>TCA377641953PLCE1c.4385G>T (p.Arg1462Leu)
c.*1852G>T (n.*1852G>T)
n.2044G>T
n.728G>T
c.*593G>T (n.*593G>T)
c.4337G>T (p.Arg1446Leu)
n.9517G>T
n.2982G>T
c.5177G>T (p.Arg1726Leu)
c.5261G>T (p.Arg1754Leu)
c.5309G>T (p.Arg1770Leu)
c.4283G>T (p.Arg1428Leu)
c.3864G>T
c.3425G>T (p.Arg1142Leu)
c.*1242G>T (n.*1242G>T)
c.4578G>T
c.5351G>T (p.Arg1784Leu)
c.5348G>T (p.Arg1783Leu)
c.5303G>T (p.Arg1768Leu)
c.4427G>T (p.Arg1476Leu)
c.4196G>T (p.Arg1399Leu)
10g.94298521C>ACA470986530PLCE1c.4386C>A (p.Arg1462=)
c.*1853C>A (n.*1853C>A)
n.2045C>A
n.729C>A
c.*594C>A (n.*594C>A)
c.4338C>A (p.Arg1446=)
n.9518C>A
n.2983C>A
c.5178C>A (p.Arg1726=)
c.5262C>A (p.Arg1754=)
c.5310C>A (p.Arg1770=)
c.4284C>A (p.Arg1428=)
c.3865C>A
c.3426C>A (p.Arg1142=)
c.*1243C>A (n.*1243C>A)
c.4579C>A
c.5352C>A (p.Arg1784=)
c.5349C>A (p.Arg1783=)
c.5304C>A (p.Arg1768=)
c.4428C>A (p.Arg1476=)
c.4197C>A (p.Arg1399=)
10g.94298521C>GCA470986532PLCE1c.4386C>G (p.Arg1462=)
c.*1853C>G (n.*1853C>G)
n.2045C>G
n.729C>G
c.*594C>G (n.*594C>G)
c.4338C>G (p.Arg1446=)
n.9518C>G
n.2983C>G
c.5178C>G (p.Arg1726=)
c.5262C>G (p.Arg1754=)
c.5310C>G (p.Arg1770=)
c.4284C>G (p.Arg1428=)
c.3865C>G
c.3426C>G (p.Arg1142=)
c.*1243C>G (n.*1243C>G)
c.4579C>G
c.5352C>G (p.Arg1784=)
c.5349C>G (p.Arg1783=)
c.5304C>G (p.Arg1768=)
c.4428C>G (p.Arg1476=)
c.4197C>G (p.Arg1399=)
10g.94298521C>TCA470986531PLCE1c.4386C>T (p.Arg1462=)
c.*1853C>T (n.*1853C>T)
n.2045C>T
n.729C>T
c.*594C>T (n.*594C>T)
c.4338C>T (p.Arg1446=)
n.9518C>T
n.2983C>T
c.5178C>T (p.Arg1726=)
c.5262C>T (p.Arg1754=)
c.5310C>T (p.Arg1770=)
c.4284C>T (p.Arg1428=)
c.3865C>T
c.3426C>T (p.Arg1142=)
c.*1243C>T (n.*1243C>T)
c.4579C>T
c.5352C>T (p.Arg1784=)
c.5349C>T (p.Arg1783=)
c.5304C>T (p.Arg1768=)
c.4428C>T (p.Arg1476=)
c.4197C>T (p.Arg1399=)
10g.94298522A>CCA470986533PLCE1c.4387A>C (p.Arg1463=)
c.*1854A>C (n.*1854A>C)
n.2046A>C
n.730A>C
c.*595A>C (n.*595A>C)
c.4339A>C (p.Arg1447=)
n.9519A>C
n.2984A>C
c.5179A>C (p.Arg1727=)
c.5263A>C (p.Arg1755=)
c.5311A>C (p.Arg1771=)
c.4285A>C (p.Arg1429=)
c.3866A>C
c.3427A>C (p.Arg1143=)
c.*1244A>C (n.*1244A>C)
c.4580A>C
c.5353A>C (p.Arg1785=)
c.5350A>C (p.Arg1784=)
c.5305A>C (p.Arg1769=)
c.4429A>C (p.Arg1477=)
c.4198A>C (p.Arg1400=)
10g.94298522A>GCA377641955PLCE1c.4387A>G (p.Arg1463Gly)
c.*1854A>G (n.*1854A>G)
n.2046A>G
n.730A>G
c.*595A>G (n.*595A>G)
c.4339A>G (p.Arg1447Gly)
n.9519A>G
n.2984A>G
c.5179A>G (p.Arg1727Gly)
c.5263A>G (p.Arg1755Gly)
c.5311A>G (p.Arg1771Gly)
c.4285A>G (p.Arg1429Gly)
c.3866A>G
c.3427A>G (p.Arg1143Gly)
c.*1244A>G (n.*1244A>G)
c.4580A>G
c.5353A>G (p.Arg1785Gly)
c.5350A>G (p.Arg1784Gly)
c.5305A>G (p.Arg1769Gly)
c.4429A>G (p.Arg1477Gly)
c.4198A>G (p.Arg1400Gly)
10g.94298522A>TCA377641954PLCE1c.4387A>T (p.Arg1463Trp)
c.*1854A>T (n.*1854A>T)
n.2046A>T
n.730A>T
c.*595A>T (n.*595A>T)
c.4339A>T (p.Arg1447Trp)
n.9519A>T
n.2984A>T
c.5179A>T (p.Arg1727Trp)
c.5263A>T (p.Arg1755Trp)
c.5311A>T (p.Arg1771Trp)
c.4285A>T (p.Arg1429Trp)
c.3866A>T
c.3427A>T (p.Arg1143Trp)
c.*1244A>T (n.*1244A>T)
c.4580A>T
c.5353A>T (p.Arg1785Trp)
c.5350A>T (p.Arg1784Trp)
c.5305A>T (p.Arg1769Trp)
c.4429A>T (p.Arg1477Trp)
c.4198A>T (p.Arg1400Trp)
10g.94298523G>ACA377641956PLCE1c.4388G>A (p.Arg1463Lys)
c.*1855G>A (n.*1855G>A)
n.2047G>A
n.731G>A
c.*596G>A (n.*596G>A)
c.4340G>A (p.Arg1447Lys)
n.9520G>A
n.2985G>A
c.5180G>A (p.Arg1727Lys)
c.5264G>A (p.Arg1755Lys)
c.5312G>A (p.Arg1771Lys)
c.4286G>A (p.Arg1429Lys)
c.3867G>A
c.3428G>A (p.Arg1143Lys)
c.*1245G>A (n.*1245G>A)
c.4581G>A
c.5354G>A (p.Arg1785Lys)
c.5351G>A (p.Arg1784Lys)
c.5306G>A (p.Arg1769Lys)
c.4430G>A (p.Arg1477Lys)
c.4199G>A (p.Arg1400Lys)
gnomAD v4
10g.94298523G>CCA377641957PLCE1c.4388G>C (p.Arg1463Thr)
c.*1855G>C (n.*1855G>C)
n.2047G>C
n.731G>C
c.*596G>C (n.*596G>C)
c.4340G>C (p.Arg1447Thr)
n.9520G>C
n.2985G>C
c.5180G>C (p.Arg1727Thr)
c.5264G>C (p.Arg1755Thr)
c.5312G>C (p.Arg1771Thr)
c.4286G>C (p.Arg1429Thr)
c.3867G>C
c.3428G>C (p.Arg1143Thr)
c.*1245G>C (n.*1245G>C)
c.4581G>C
c.5354G>C (p.Arg1785Thr)
c.5351G>C (p.Arg1784Thr)
c.5306G>C (p.Arg1769Thr)
c.4430G>C (p.Arg1477Thr)
c.4199G>C (p.Arg1400Thr)
dbSNP
10g.94298523G=CA1928998425PLCE1c.4388G= (p.Arg1463=)
c.*1855G= (n.*1855G=)
n.2047G=
n.731G=
c.*596G= (n.*596G=)
c.4340G= (p.Arg1447=)
n.9520G=
n.2985G=
c.5180G= (p.Arg1727=)
c.5264G= (p.Arg1755=)
c.5312G= (p.Arg1771=)
c.4286G= (p.Arg1429=)
c.3867G=
c.3428G= (p.Arg1143=)
c.*1245G= (n.*1245G=)
c.4581G=
c.5354G= (p.Arg1785=)
c.5351G= (p.Arg1784=)
c.5306G= (p.Arg1769=)
c.4430G= (p.Arg1477=)
c.4199G= (p.Arg1400=)
10g.94298523G>TCA377641958PLCE1c.4388G>T (p.Arg1463Met)
c.*1855G>T (n.*1855G>T)
n.2047G>T
n.731G>T
c.*596G>T (n.*596G>T)
c.4340G>T (p.Arg1447Met)
n.9520G>T
n.2985G>T
c.5180G>T (p.Arg1727Met)
c.5264G>T (p.Arg1755Met)
c.5312G>T (p.Arg1771Met)
c.4286G>T (p.Arg1429Met)
c.3867G>T
c.3428G>T (p.Arg1143Met)
c.*1245G>T (n.*1245G>T)
c.4581G>T
c.5354G>T (p.Arg1785Met)
c.5351G>T (p.Arg1784Met)
c.5306G>T (p.Arg1769Met)
c.4430G>T (p.Arg1477Met)
c.4199G>T (p.Arg1400Met)
10g.94298524G>ACA470986535PLCE1c.4389G>A (p.Arg1463=)
c.*1856G>A (n.*1856G>A)
n.2048G>A
n.732G>A
c.*597G>A (n.*597G>A)
c.4341G>A (p.Arg1447=)
n.9521G>A
n.2986G>A
c.5181G>A (p.Arg1727=)
c.5265G>A (p.Arg1755=)
c.5313G>A (p.Arg1771=)
c.4287G>A (p.Arg1429=)
c.3868G>A
c.3429G>A (p.Arg1143=)
c.*1246G>A (n.*1246G>A)
c.4582G>A
c.5355G>A (p.Arg1785=)
c.5352G>A (p.Arg1784=)
c.5307G>A (p.Arg1769=)
c.4431G>A (p.Arg1477=)
c.4200G>A (p.Arg1400=)
10g.94298524G>CCA377641959PLCE1c.4389G>C (p.Arg1463Ser)
c.*1856G>C (n.*1856G>C)
n.2048G>C
n.732G>C
c.*597G>C (n.*597G>C)
c.4341G>C (p.Arg1447Ser)
n.9521G>C
n.2986G>C
c.5181G>C (p.Arg1727Ser)
c.5265G>C (p.Arg1755Ser)
c.5313G>C (p.Arg1771Ser)
c.4287G>C (p.Arg1429Ser)
c.3868G>C
c.3429G>C (p.Arg1143Ser)
c.*1246G>C (n.*1246G>C)
c.4582G>C
c.5355G>C (p.Arg1785Ser)
c.5352G>C (p.Arg1784Ser)
c.5307G>C (p.Arg1769Ser)
c.4431G>C (p.Arg1477Ser)
c.4200G>C (p.Arg1400Ser)
10g.94298524G=CA1928998426PLCE1c.4389G= (p.Arg1463=)
c.*1856G= (n.*1856G=)
n.2048G=
n.732G=
c.*597G= (n.*597G=)
c.4341G= (p.Arg1447=)
n.9521G=
n.2986G=
c.5181G= (p.Arg1727=)
c.5265G= (p.Arg1755=)
c.5313G= (p.Arg1771=)
c.4287G= (p.Arg1429=)
c.3868G=
c.3429G= (p.Arg1143=)
c.*1246G= (n.*1246G=)
c.4582G=
c.5355G= (p.Arg1785=)
c.5352G= (p.Arg1784=)
c.5307G= (p.Arg1769=)
c.4431G= (p.Arg1477=)
c.4200G= (p.Arg1400=)
10g.94298524G>TCA5613336PLCE1c.4389G>T (p.Arg1463Ser)
c.*1856G>T (n.*1856G>T)
n.2048G>T
n.732G>T
c.*597G>T (n.*597G>T)
c.4341G>T (p.Arg1447Ser)
n.9521G>T
n.2986G>T
c.5181G>T (p.Arg1727Ser)
c.5265G>T (p.Arg1755Ser)
c.5313G>T (p.Arg1771Ser)
c.4287G>T (p.Arg1429Ser)
c.3868G>T
c.3429G>T (p.Arg1143Ser)
c.*1246G>T (n.*1246G>T)
c.4582G>T
c.5355G>T (p.Arg1785Ser)
c.5352G>T (p.Arg1784Ser)
c.5307G>T (p.Arg1769Ser)
c.4431G>T (p.Arg1477Ser)
c.4200G>T (p.Arg1400Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298525T>ACA377641960PLCE1c.4390T>A (p.Tyr1464Asn)
c.*1857T>A (n.*1857T>A)
n.2049T>A
n.733T>A
c.*598T>A (n.*598T>A)
c.4342T>A (p.Tyr1448Asn)
n.9522T>A
n.2987T>A
c.5182T>A (p.Tyr1728Asn)
c.5266T>A (p.Tyr1756Asn)
c.5314T>A (p.Tyr1772Asn)
c.4288T>A (p.Tyr1430Asn)
c.3869T>A
c.3430T>A (p.Tyr1144Asn)
c.*1247T>A (n.*1247T>A)
c.4583T>A
c.5356T>A (p.Tyr1786Asn)
c.5353T>A (p.Tyr1785Asn)
c.5308T>A (p.Tyr1770Asn)
c.4432T>A (p.Tyr1478Asn)
c.4201T>A (p.Tyr1401Asn)
10g.94298525T>CCA377641961PLCE1c.4390T>C (p.Tyr1464His)
c.*1857T>C (n.*1857T>C)
n.2049T>C
n.733T>C
c.*598T>C (n.*598T>C)
c.4342T>C (p.Tyr1448His)
n.9522T>C
n.2987T>C
c.5182T>C (p.Tyr1728His)
c.5266T>C (p.Tyr1756His)
c.5314T>C (p.Tyr1772His)
c.4288T>C (p.Tyr1430His)
c.3869T>C
c.3430T>C (p.Tyr1144His)
c.*1247T>C (n.*1247T>C)
c.4583T>C
c.5356T>C (p.Tyr1786His)
c.5353T>C (p.Tyr1785His)
c.5308T>C (p.Tyr1770His)
c.4432T>C (p.Tyr1478His)
c.4201T>C (p.Tyr1401His)
gnomAD v4
10g.94298525T>GCA377641962PLCE1c.4390T>G (p.Tyr1464Asp)
c.*1857T>G (n.*1857T>G)
n.2049T>G
n.733T>G
c.*598T>G (n.*598T>G)
c.4342T>G (p.Tyr1448Asp)
n.9522T>G
n.2987T>G
c.5182T>G (p.Tyr1728Asp)
c.5266T>G (p.Tyr1756Asp)
c.5314T>G (p.Tyr1772Asp)
c.4288T>G (p.Tyr1430Asp)
c.3869T>G
c.3430T>G (p.Tyr1144Asp)
c.*1247T>G (n.*1247T>G)
c.4583T>G
c.5356T>G (p.Tyr1786Asp)
c.5353T>G (p.Tyr1785Asp)
c.5308T>G (p.Tyr1770Asp)
c.4432T>G (p.Tyr1478Asp)
c.4201T>G (p.Tyr1401Asp)
10g.94298526A>CCA377641963PLCE1c.4391A>C (p.Tyr1464Ser)
c.*1858A>C (n.*1858A>C)
n.2050A>C
n.734A>C
c.*599A>C (n.*599A>C)
c.4343A>C (p.Tyr1448Ser)
n.9523A>C
n.2988A>C
c.5183A>C (p.Tyr1728Ser)
c.5267A>C (p.Tyr1756Ser)
c.5315A>C (p.Tyr1772Ser)
c.4289A>C (p.Tyr1430Ser)
c.3870A>C
c.3431A>C (p.Tyr1144Ser)
c.*1248A>C (n.*1248A>C)
c.4584A>C
c.5357A>C (p.Tyr1786Ser)
c.5354A>C (p.Tyr1785Ser)
c.5309A>C (p.Tyr1770Ser)
c.4433A>C (p.Tyr1478Ser)
c.4202A>C (p.Tyr1401Ser)
10g.94298526A>GCA377641964PLCE1c.4391A>G (p.Tyr1464Cys)
c.*1858A>G (n.*1858A>G)
n.2050A>G
n.734A>G
c.*599A>G (n.*599A>G)
c.4343A>G (p.Tyr1448Cys)
n.9523A>G
n.2988A>G
c.5183A>G (p.Tyr1728Cys)
c.5267A>G (p.Tyr1756Cys)
c.5315A>G (p.Tyr1772Cys)
c.4289A>G (p.Tyr1430Cys)
c.3870A>G
c.3431A>G (p.Tyr1144Cys)
c.*1248A>G (n.*1248A>G)
c.4584A>G
c.5357A>G (p.Tyr1786Cys)
c.5354A>G (p.Tyr1785Cys)
c.5309A>G (p.Tyr1770Cys)
c.4433A>G (p.Tyr1478Cys)
c.4202A>G (p.Tyr1401Cys)
10g.94298526A>TCA377641965PLCE1c.4391A>T (p.Tyr1464Phe)
c.*1858A>T (n.*1858A>T)
n.2050A>T
n.734A>T
c.*599A>T (n.*599A>T)
c.4343A>T (p.Tyr1448Phe)
n.9523A>T
n.2988A>T
c.5183A>T (p.Tyr1728Phe)
c.5267A>T (p.Tyr1756Phe)
c.5315A>T (p.Tyr1772Phe)
c.4289A>T (p.Tyr1430Phe)
c.3870A>T
c.3431A>T (p.Tyr1144Phe)
c.*1248A>T (n.*1248A>T)
c.4584A>T
c.5357A>T (p.Tyr1786Phe)
c.5354A>T (p.Tyr1785Phe)
c.5309A>T (p.Tyr1770Phe)
c.4433A>T (p.Tyr1478Phe)
c.4202A>T (p.Tyr1401Phe)
10g.94298527T>ACA377641966PLCE1c.4392T>A (p.Tyr1464Ter)
c.*1859T>A (n.*1859T>A)
n.2051T>A
n.735T>A
c.*600T>A (n.*600T>A)
c.4344T>A (p.Tyr1448Ter)
n.9524T>A
n.2989T>A
c.5184T>A (p.Tyr1728Ter)
c.5268T>A (p.Tyr1756Ter)
c.5316T>A (p.Tyr1772Ter)
c.4290T>A (p.Tyr1430Ter)
c.3871T>A
c.3432T>A (p.Tyr1144Ter)
c.*1249T>A (n.*1249T>A)
c.4585T>A
c.5358T>A (p.Tyr1786Ter)
c.5355T>A (p.Tyr1785Ter)
c.5310T>A (p.Tyr1770Ter)
c.4434T>A (p.Tyr1478Ter)
c.4203T>A (p.Tyr1401Ter)
10g.94298527T>CCA470986536PLCE1c.4392T>C (p.Tyr1464=)
c.*1859T>C (n.*1859T>C)
n.2051T>C
n.735T>C
c.*600T>C (n.*600T>C)
c.4344T>C (p.Tyr1448=)
n.9524T>C
n.2989T>C
c.5184T>C (p.Tyr1728=)
c.5268T>C (p.Tyr1756=)
c.5316T>C (p.Tyr1772=)
c.4290T>C (p.Tyr1430=)
c.3871T>C
c.3432T>C (p.Tyr1144=)
c.*1249T>C (n.*1249T>C)
c.4585T>C
c.5358T>C (p.Tyr1786=)
c.5355T>C (p.Tyr1785=)
c.5310T>C (p.Tyr1770=)
c.4434T>C (p.Tyr1478=)
c.4203T>C (p.Tyr1401=)
10g.94298527T>GCA377641967PLCE1c.4392T>G (p.Tyr1464Ter)
c.*1859T>G (n.*1859T>G)
n.2051T>G
n.735T>G
c.*600T>G (n.*600T>G)
c.4344T>G (p.Tyr1448Ter)
n.9524T>G
n.2989T>G
c.5184T>G (p.Tyr1728Ter)
c.5268T>G (p.Tyr1756Ter)
c.5316T>G (p.Tyr1772Ter)
c.4290T>G (p.Tyr1430Ter)
c.3871T>G
c.3432T>G (p.Tyr1144Ter)
c.*1249T>G (n.*1249T>G)
c.4585T>G
c.5358T>G (p.Tyr1786Ter)
c.5355T>G (p.Tyr1785Ter)
c.5310T>G (p.Tyr1770Ter)
c.4434T>G (p.Tyr1478Ter)
c.4203T>G (p.Tyr1401Ter)
10g.94298528T>ACA377641968PLCE1c.4393T>A (p.Ser1465Thr)
c.*1860T>A (n.*1860T>A)
n.2052T>A
n.736T>A
c.*601T>A (n.*601T>A)
c.4345T>A (p.Ser1449Thr)
n.9525T>A
n.2990T>A
c.5185T>A (p.Ser1729Thr)
c.5269T>A (p.Ser1757Thr)
c.5317T>A (p.Ser1773Thr)
c.4291T>A (p.Ser1431Thr)
c.3872T>A
c.3433T>A (p.Ser1145Thr)
c.*1250T>A (n.*1250T>A)
c.4586T>A
c.5359T>A (p.Ser1787Thr)
c.5356T>A (p.Ser1786Thr)
c.5311T>A (p.Ser1771Thr)
c.4435T>A (p.Ser1479Thr)
c.4204T>A (p.Ser1402Thr)
10g.94298528T>CCA377641970PLCE1c.4393T>C (p.Ser1465Pro)
c.*1860T>C (n.*1860T>C)
n.2052T>C
n.736T>C
c.*601T>C (n.*601T>C)
c.4345T>C (p.Ser1449Pro)
n.9525T>C
n.2990T>C
c.5185T>C (p.Ser1729Pro)
c.5269T>C (p.Ser1757Pro)
c.5317T>C (p.Ser1773Pro)
c.4291T>C (p.Ser1431Pro)
c.3872T>C
c.3433T>C (p.Ser1145Pro)
c.*1250T>C (n.*1250T>C)
c.4586T>C
c.5359T>C (p.Ser1787Pro)
c.5356T>C (p.Ser1786Pro)
c.5311T>C (p.Ser1771Pro)
c.4435T>C (p.Ser1479Pro)
c.4204T>C (p.Ser1402Pro)
10g.94298528T>GCA377641969PLCE1c.4393T>G (p.Ser1465Ala)
c.*1860T>G (n.*1860T>G)
n.2052T>G
n.736T>G
c.*601T>G (n.*601T>G)
c.4345T>G (p.Ser1449Ala)
n.9525T>G
n.2990T>G
c.5185T>G (p.Ser1729Ala)
c.5269T>G (p.Ser1757Ala)
c.5317T>G (p.Ser1773Ala)
c.4291T>G (p.Ser1431Ala)
c.3872T>G
c.3433T>G (p.Ser1145Ala)
c.*1250T>G (n.*1250T>G)
c.4586T>G
c.5359T>G (p.Ser1787Ala)
c.5356T>G (p.Ser1786Ala)
c.5311T>G (p.Ser1771Ala)
c.4435T>G (p.Ser1479Ala)
c.4204T>G (p.Ser1402Ala)
10g.94298529C>ACA377641971PLCE1c.4394C>A (p.Ser1465Tyr)
c.*1861C>A (n.*1861C>A)
n.2053C>A
n.737C>A
c.*602C>A (n.*602C>A)
c.4346C>A (p.Ser1449Tyr)
n.9526C>A
n.2991C>A
c.5186C>A (p.Ser1729Tyr)
c.5270C>A (p.Ser1757Tyr)
c.5318C>A (p.Ser1773Tyr)
c.4292C>A (p.Ser1431Tyr)
c.3873C>A
c.3434C>A (p.Ser1145Tyr)
c.*1251C>A (n.*1251C>A)
c.4587C>A
c.5360C>A (p.Ser1787Tyr)
c.5357C>A (p.Ser1786Tyr)
c.5312C>A (p.Ser1771Tyr)
c.4436C>A (p.Ser1479Tyr)
c.4205C>A (p.Ser1402Tyr)
10g.94298529C>GCA377641972PLCE1c.4394C>G (p.Ser1465Cys)
c.*1861C>G (n.*1861C>G)
n.2053C>G
n.737C>G
c.*602C>G (n.*602C>G)
c.4346C>G (p.Ser1449Cys)
n.9526C>G
n.2991C>G
c.5186C>G (p.Ser1729Cys)
c.5270C>G (p.Ser1757Cys)
c.5318C>G (p.Ser1773Cys)
c.4292C>G (p.Ser1431Cys)
c.3873C>G
c.3434C>G (p.Ser1145Cys)
c.*1251C>G (n.*1251C>G)
c.4587C>G
c.5360C>G (p.Ser1787Cys)
c.5357C>G (p.Ser1786Cys)
c.5312C>G (p.Ser1771Cys)
c.4436C>G (p.Ser1479Cys)
c.4205C>G (p.Ser1402Cys)
10g.94298529C>TCA377641973PLCE1c.4394C>T (p.Ser1465Phe)
c.*1861C>T (n.*1861C>T)
n.2053C>T
n.737C>T
c.*602C>T (n.*602C>T)
c.4346C>T (p.Ser1449Phe)
n.9526C>T
n.2991C>T
c.5186C>T (p.Ser1729Phe)
c.5270C>T (p.Ser1757Phe)
c.5318C>T (p.Ser1773Phe)
c.4292C>T (p.Ser1431Phe)
c.3873C>T
c.3434C>T (p.Ser1145Phe)
c.*1251C>T (n.*1251C>T)
c.4587C>T
c.5360C>T (p.Ser1787Phe)
c.5357C>T (p.Ser1786Phe)
c.5312C>T (p.Ser1771Phe)
c.4436C>T (p.Ser1479Phe)
c.4205C>T (p.Ser1402Phe)
gnomAD v4
10g.94298530T>ACA470986540PLCE1c.4395T>A (p.Ser1465=)
c.*1862T>A (n.*1862T>A)
n.2054T>A
n.738T>A
c.*603T>A (n.*603T>A)
c.4347T>A (p.Ser1449=)
n.9527T>A
n.2992T>A
c.5187T>A (p.Ser1729=)
c.5271T>A (p.Ser1757=)
c.5319T>A (p.Ser1773=)
c.4293T>A (p.Ser1431=)
c.3874T>A
c.3435T>A (p.Ser1145=)
c.*1252T>A (n.*1252T>A)
c.4588T>A
c.5361T>A (p.Ser1787=)
c.5358T>A (p.Ser1786=)
c.5313T>A (p.Ser1771=)
c.4437T>A (p.Ser1479=)
c.4206T>A (p.Ser1402=)
10g.94298530T>CCA470986541PLCE1c.4395T>C (p.Ser1465=)
c.*1862T>C (n.*1862T>C)
n.2054T>C
n.738T>C
c.*603T>C (n.*603T>C)
c.4347T>C (p.Ser1449=)
n.9527T>C
n.2992T>C
c.5187T>C (p.Ser1729=)
c.5271T>C (p.Ser1757=)
c.5319T>C (p.Ser1773=)
c.4293T>C (p.Ser1431=)
c.3874T>C
c.3435T>C (p.Ser1145=)
c.*1252T>C (n.*1252T>C)
c.4588T>C
c.5361T>C (p.Ser1787=)
c.5358T>C (p.Ser1786=)
c.5313T>C (p.Ser1771=)
c.4437T>C (p.Ser1479=)
c.4206T>C (p.Ser1402=)
10g.94298530T>GCA470986542PLCE1c.4395T>G (p.Ser1465=)
c.*1862T>G (n.*1862T>G)
n.2054T>G
n.738T>G
c.*603T>G (n.*603T>G)
c.4347T>G (p.Ser1449=)
n.9527T>G
n.2992T>G
c.5187T>G (p.Ser1729=)
c.5271T>G (p.Ser1757=)
c.5319T>G (p.Ser1773=)
c.4293T>G (p.Ser1431=)
c.3874T>G
c.3435T>G (p.Ser1145=)
c.*1252T>G (n.*1252T>G)
c.4588T>G
c.5361T>G (p.Ser1787=)
c.5358T>G (p.Ser1786=)
c.5313T>G (p.Ser1771=)
c.4437T>G (p.Ser1479=)
c.4206T>G (p.Ser1402=)
10g.94298531C>ACA377641974PLCE1c.4396C>A (p.Gln1466Lys)
c.*1863C>A (n.*1863C>A)
n.2055C>A
n.739C>A
c.*604C>A (n.*604C>A)
c.4348C>A (p.Gln1450Lys)
n.9528C>A
n.2993C>A
c.5188C>A (p.Gln1730Lys)
c.5272C>A (p.Gln1758Lys)
c.5320C>A (p.Gln1774Lys)
c.4294C>A (p.Gln1432Lys)
c.3875C>A
c.3436C>A (p.Gln1146Lys)
c.*1253C>A (n.*1253C>A)
c.4589C>A
c.5362C>A (p.Gln1788Lys)
c.5359C>A (p.Gln1787Lys)
c.5314C>A (p.Gln1772Lys)
c.4438C>A (p.Gln1480Lys)
c.4207C>A (p.Gln1403Lys)
10g.94298531C=CA1928998427PLCE1c.4396C= (p.Gln1466=)
c.*1863C= (n.*1863C=)
n.2055C=
n.739C=
c.*604C= (n.*604C=)
c.4348C= (p.Gln1450=)
n.9528C=
n.2993C=
c.5188C= (p.Gln1730=)
c.5272C= (p.Gln1758=)
c.5320C= (p.Gln1774=)
c.4294C= (p.Gln1432=)
c.3875C=
c.3436C= (p.Gln1146=)
c.*1253C= (n.*1253C=)
c.4589C=
c.5362C= (p.Gln1788=)
c.5359C= (p.Gln1787=)
c.5314C= (p.Gln1772=)
c.4438C= (p.Gln1480=)
c.4207C= (p.Gln1403=)
10g.94298531C>GCA377641975PLCE1c.4396C>G (p.Gln1466Glu)
c.*1863C>G (n.*1863C>G)
n.2055C>G
n.739C>G
c.*604C>G (n.*604C>G)
c.4348C>G (p.Gln1450Glu)
n.9528C>G
n.2993C>G
c.5188C>G (p.Gln1730Glu)
c.5272C>G (p.Gln1758Glu)
c.5320C>G (p.Gln1774Glu)
c.4294C>G (p.Gln1432Glu)
c.3875C>G
c.3436C>G (p.Gln1146Glu)
c.*1253C>G (n.*1253C>G)
c.4589C>G
c.5362C>G (p.Gln1788Glu)
c.5359C>G (p.Gln1787Glu)
c.5314C>G (p.Gln1772Glu)
c.4438C>G (p.Gln1480Glu)
c.4207C>G (p.Gln1403Glu)
10g.94298531C>TCA377641976PLCE1c.4396C>T (p.Gln1466Ter)
c.*1863C>T (n.*1863C>T)
n.2055C>T
n.739C>T
c.*604C>T (n.*604C>T)
c.4348C>T (p.Gln1450Ter)
n.9528C>T
n.2993C>T
c.5188C>T (p.Gln1730Ter)
c.5272C>T (p.Gln1758Ter)
c.5320C>T (p.Gln1774Ter)
c.4294C>T (p.Gln1432Ter)
c.3875C>T
c.3436C>T (p.Gln1146Ter)
c.*1253C>T (n.*1253C>T)
c.4589C>T
c.5362C>T (p.Gln1788Ter)
c.5359C>T (p.Gln1787Ter)
c.5314C>T (p.Gln1772Ter)
c.4438C>T (p.Gln1480Ter)
c.4207C>T (p.Gln1403Ter)
dbSNP gnomAD v2 gnomAD v4
10g.94298532A>CCA377641977PLCE1c.4397A>C (p.Gln1466Pro)
c.*1864A>C (n.*1864A>C)
n.2056A>C
n.740A>C
c.*605A>C (n.*605A>C)
c.4349A>C (p.Gln1450Pro)
n.9529A>C
n.2994A>C
c.5189A>C (p.Gln1730Pro)
c.5273A>C (p.Gln1758Pro)
c.5321A>C (p.Gln1774Pro)
c.4295A>C (p.Gln1432Pro)
c.3876A>C
c.3437A>C (p.Gln1146Pro)
c.*1254A>C (n.*1254A>C)
c.4590A>C
c.5363A>C (p.Gln1788Pro)
c.5360A>C (p.Gln1787Pro)
c.5315A>C (p.Gln1772Pro)
c.4439A>C (p.Gln1480Pro)
c.4208A>C (p.Gln1403Pro)
10g.94298532A>GCA377641978PLCE1c.4397A>G (p.Gln1466Arg)
c.*1864A>G (n.*1864A>G)
n.2056A>G
n.740A>G
c.*605A>G (n.*605A>G)
c.4349A>G (p.Gln1450Arg)
n.9529A>G
n.2994A>G
c.5189A>G (p.Gln1730Arg)
c.5273A>G (p.Gln1758Arg)
c.5321A>G (p.Gln1774Arg)
c.4295A>G (p.Gln1432Arg)
c.3876A>G
c.3437A>G (p.Gln1146Arg)
c.*1254A>G (n.*1254A>G)
c.4590A>G
c.5363A>G (p.Gln1788Arg)
c.5360A>G (p.Gln1787Arg)
c.5315A>G (p.Gln1772Arg)
c.4439A>G (p.Gln1480Arg)
c.4208A>G (p.Gln1403Arg)
10g.94298532A>TCA377641979PLCE1c.4397A>T (p.Gln1466Leu)
c.*1864A>T (n.*1864A>T)
n.2056A>T
n.740A>T
c.*605A>T (n.*605A>T)
c.4349A>T (p.Gln1450Leu)
n.9529A>T
n.2994A>T
c.5189A>T (p.Gln1730Leu)
c.5273A>T (p.Gln1758Leu)
c.5321A>T (p.Gln1774Leu)
c.4295A>T (p.Gln1432Leu)
c.3876A>T
c.3437A>T (p.Gln1146Leu)
c.*1254A>T (n.*1254A>T)
c.4590A>T
c.5363A>T (p.Gln1788Leu)
c.5360A>T (p.Gln1787Leu)
c.5315A>T (p.Gln1772Leu)
c.4439A>T (p.Gln1480Leu)
c.4208A>T (p.Gln1403Leu)
10g.94298533G>ACA470986544PLCE1c.4398G>A (p.Gln1466=)
c.*1865G>A (n.*1865G>A)
n.2057G>A
n.741G>A
c.*606G>A (n.*606G>A)
c.4350G>A (p.Gln1450=)
n.9530G>A
n.2995G>A
c.5190G>A (p.Gln1730=)
c.5274G>A (p.Gln1758=)
c.5322G>A (p.Gln1774=)
c.4296G>A (p.Gln1432=)
c.3877G>A
c.3438G>A (p.Gln1146=)
c.*1255G>A (n.*1255G>A)
c.4591G>A
c.5364G>A (p.Gln1788=)
c.5361G>A (p.Gln1787=)
c.5316G>A (p.Gln1772=)
c.4440G>A (p.Gln1480=)
c.4209G>A (p.Gln1403=)
10g.94298533G>CCA377641980PLCE1c.4398G>C (p.Gln1466His)
c.*1865G>C (n.*1865G>C)
n.2057G>C
n.741G>C
c.*606G>C (n.*606G>C)
c.4350G>C (p.Gln1450His)
n.9530G>C
n.2995G>C
c.5190G>C (p.Gln1730His)
c.5274G>C (p.Gln1758His)
c.5322G>C (p.Gln1774His)
c.4296G>C (p.Gln1432His)
c.3877G>C
c.3438G>C (p.Gln1146His)
c.*1255G>C (n.*1255G>C)
c.4591G>C
c.5364G>C (p.Gln1788His)
c.5361G>C (p.Gln1787His)
c.5316G>C (p.Gln1772His)
c.4440G>C (p.Gln1480His)
c.4209G>C (p.Gln1403His)
10g.94298533G>TCA377641981PLCE1c.4398G>T (p.Gln1466His)
c.*1865G>T (n.*1865G>T)
n.2057G>T
n.741G>T
c.*606G>T (n.*606G>T)
c.4350G>T (p.Gln1450His)
n.9530G>T
n.2995G>T
c.5190G>T (p.Gln1730His)
c.5274G>T (p.Gln1758His)
c.5322G>T (p.Gln1774His)
c.4296G>T (p.Gln1432His)
c.3877G>T
c.3438G>T (p.Gln1146His)
c.*1255G>T (n.*1255G>T)
c.4591G>T
c.5364G>T (p.Gln1788His)
c.5361G>T (p.Gln1787His)
c.5316G>T (p.Gln1772His)
c.4440G>T (p.Gln1480His)
c.4209G>T (p.Gln1403His)
10g.94298534A>CCA377641984PLCE1c.4399A>C (p.Lys1467Gln)
c.*1866A>C (n.*1866A>C)
n.2058A>C
n.742A>C
c.*607A>C (n.*607A>C)
c.4351A>C (p.Lys1451Gln)
n.9531A>C
n.2996A>C
c.5191A>C (p.Lys1731Gln)
c.5275A>C (p.Lys1759Gln)
c.5323A>C (p.Lys1775Gln)
c.4297A>C (p.Lys1433Gln)
c.3878A>C
c.3439A>C (p.Lys1147Gln)
c.*1256A>C (n.*1256A>C)
c.4592A>C
c.5365A>C (p.Lys1789Gln)
c.5362A>C (p.Lys1788Gln)
c.5317A>C (p.Lys1773Gln)
c.4441A>C (p.Lys1481Gln)
c.4210A>C (p.Lys1404Gln)
10g.94298534A>GCA377641983PLCE1c.4399A>G (p.Lys1467Glu)
c.*1866A>G (n.*1866A>G)
n.2058A>G
n.742A>G
c.*607A>G (n.*607A>G)
c.4351A>G (p.Lys1451Glu)
n.9531A>G
n.2996A>G
c.5191A>G (p.Lys1731Glu)
c.5275A>G (p.Lys1759Glu)
c.5323A>G (p.Lys1775Glu)
c.4297A>G (p.Lys1433Glu)
c.3878A>G
c.3439A>G (p.Lys1147Glu)
c.*1256A>G (n.*1256A>G)
c.4592A>G
c.5365A>G (p.Lys1789Glu)
c.5362A>G (p.Lys1788Glu)
c.5317A>G (p.Lys1773Glu)
c.4441A>G (p.Lys1481Glu)
c.4210A>G (p.Lys1404Glu)
10g.94298534A>TCA377641982PLCE1c.4399A>T (p.Lys1467Ter)
c.*1866A>T (n.*1866A>T)
n.2058A>T
n.742A>T
c.*607A>T (n.*607A>T)
c.4351A>T (p.Lys1451Ter)
n.9531A>T
n.2996A>T
c.5191A>T (p.Lys1731Ter)
c.5275A>T (p.Lys1759Ter)
c.5323A>T (p.Lys1775Ter)
c.4297A>T (p.Lys1433Ter)
c.3878A>T
c.3439A>T (p.Lys1147Ter)
c.*1256A>T (n.*1256A>T)
c.4592A>T
c.5365A>T (p.Lys1789Ter)
c.5362A>T (p.Lys1788Ter)
c.5317A>T (p.Lys1773Ter)
c.4441A>T (p.Lys1481Ter)
c.4210A>T (p.Lys1404Ter)
10g.94298535A>CCA377641985PLCE1c.4400A>C (p.Lys1467Thr)
c.*1867A>C (n.*1867A>C)
n.2059A>C
n.743A>C
c.*608A>C (n.*608A>C)
c.4352A>C (p.Lys1451Thr)
n.9532A>C
n.2997A>C
c.5192A>C (p.Lys1731Thr)
c.5276A>C (p.Lys1759Thr)
c.5324A>C (p.Lys1775Thr)
c.4298A>C (p.Lys1433Thr)
c.3879A>C
c.3440A>C (p.Lys1147Thr)
c.*1257A>C (n.*1257A>C)
c.4593A>C
c.5366A>C (p.Lys1789Thr)
c.5363A>C (p.Lys1788Thr)
c.5318A>C (p.Lys1773Thr)
c.4442A>C (p.Lys1481Thr)
c.4211A>C (p.Lys1404Thr)
10g.94298535A>GCA377641986PLCE1c.4400A>G (p.Lys1467Arg)
c.*1867A>G (n.*1867A>G)
n.2059A>G
n.743A>G
c.*608A>G (n.*608A>G)
c.4352A>G (p.Lys1451Arg)
n.9532A>G
n.2997A>G
c.5192A>G (p.Lys1731Arg)
c.5276A>G (p.Lys1759Arg)
c.5324A>G (p.Lys1775Arg)
c.4298A>G (p.Lys1433Arg)
c.3879A>G
c.3440A>G (p.Lys1147Arg)
c.*1257A>G (n.*1257A>G)
c.4593A>G
c.5366A>G (p.Lys1789Arg)
c.5363A>G (p.Lys1788Arg)
c.5318A>G (p.Lys1773Arg)
c.4442A>G (p.Lys1481Arg)
c.4211A>G (p.Lys1404Arg)
gnomAD v4
10g.94298535A>TCA377641987PLCE1c.4400A>T (p.Lys1467Ile)
c.*1867A>T (n.*1867A>T)
n.2059A>T
n.743A>T
c.*608A>T (n.*608A>T)
c.4352A>T (p.Lys1451Ile)
n.9532A>T
n.2997A>T
c.5192A>T (p.Lys1731Ile)
c.5276A>T (p.Lys1759Ile)
c.5324A>T (p.Lys1775Ile)
c.4298A>T (p.Lys1433Ile)
c.3879A>T
c.3440A>T (p.Lys1147Ile)
c.*1257A>T (n.*1257A>T)
c.4593A>T
c.5366A>T (p.Lys1789Ile)
c.5363A>T (p.Lys1788Ile)
c.5318A>T (p.Lys1773Ile)
c.4442A>T (p.Lys1481Ile)
c.4211A>T (p.Lys1404Ile)
10g.94298535_94298536insTCA645550159PLCE1c.4400_4401insT (p.Lys1467AsnfsTer?)
c.*1867_*1868insT (n.*1867_*1868insT)
n.2059_2060insT
n.743_744insT
c.*608_*609insT (n.*608_*609insT)
c.4352_4353insT (p.Lys1451AsnfsTer?)
n.9532_9533insT
n.2997_2998insT
c.5192_5193insT (p.Lys1731AsnfsTer?)
c.5276_5277insT (p.Lys1759AsnfsTer?)
c.5324_5325insT (p.Lys1775AsnfsTer?)
c.4298_4299insT (p.Lys1433AsnfsTer?)
c.3879_3880insT
c.3440_3441insT (p.Lys1147AsnfsTer?)
c.*1257_*1258insT (n.*1257_*1258insT)
c.4593_4594insT
c.5366_5367insT (p.Lys1789AsnfsTer?)
c.5363_5364insT (p.Lys1788AsnfsTer?)
c.5318_5319insT (p.Lys1773AsnfsTer?)
c.4442_4443insT (p.Lys1481AsnfsTer?)
c.4211_4212insT (p.Lys1404AsnfsTer?)
COSMIC COSMIC COSMIC COSMIC
10g.94298536A=CA1928998428PLCE1c.4401A= (p.Lys1467=)
c.*1868A= (n.*1868A=)
n.2060A=
n.744A=
c.*609A= (n.*609A=)
c.4353A= (p.Lys1451=)
n.9533A=
n.2998A=
c.5193A= (p.Lys1731=)
c.5277A= (p.Lys1759=)
c.5325A= (p.Lys1775=)
c.4299A= (p.Lys1433=)
c.3880A=
c.3441A= (p.Lys1147=)
c.*1258A= (n.*1258A=)
c.4594A=
c.5367A= (p.Lys1789=)
c.5364A= (p.Lys1788=)
c.5319A= (p.Lys1773=)
c.4443A= (p.Lys1481=)
c.4212A= (p.Lys1404=)
10g.94298536A>CCA377641988PLCE1c.4401A>C (p.Lys1467Asn)
c.*1868A>C (n.*1868A>C)
n.2060A>C
n.744A>C
c.*609A>C (n.*609A>C)
c.4353A>C (p.Lys1451Asn)
n.9533A>C
n.2998A>C
c.5193A>C (p.Lys1731Asn)
c.5277A>C (p.Lys1759Asn)
c.5325A>C (p.Lys1775Asn)
c.4299A>C (p.Lys1433Asn)
c.3880A>C
c.3441A>C (p.Lys1147Asn)
c.*1258A>C (n.*1258A>C)
c.4594A>C
c.5367A>C (p.Lys1789Asn)
c.5364A>C (p.Lys1788Asn)
c.5319A>C (p.Lys1773Asn)
c.4443A>C (p.Lys1481Asn)
c.4212A>C (p.Lys1404Asn)
10g.94298536A>GCA470986546PLCE1c.4401A>G (p.Lys1467=)
c.*1868A>G (n.*1868A>G)
n.2060A>G
n.744A>G
c.*609A>G (n.*609A>G)
c.4353A>G (p.Lys1451=)
n.9533A>G
n.2998A>G
c.5193A>G (p.Lys1731=)
c.5277A>G (p.Lys1759=)
c.5325A>G (p.Lys1775=)
c.4299A>G (p.Lys1433=)
c.3880A>G
c.3441A>G (p.Lys1147=)
c.*1258A>G (n.*1258A>G)
c.4594A>G
c.5367A>G (p.Lys1789=)
c.5364A>G (p.Lys1788=)
c.5319A>G (p.Lys1773=)
c.4443A>G (p.Lys1481=)
c.4212A>G (p.Lys1404=)
dbSNP gnomAD v4
10g.94298536A>TCA377641989PLCE1c.4401A>T (p.Lys1467Asn)
c.*1868A>T (n.*1868A>T)
n.2060A>T
n.744A>T
c.*609A>T (n.*609A>T)
c.4353A>T (p.Lys1451Asn)
n.9533A>T
n.2998A>T
c.5193A>T (p.Lys1731Asn)
c.5277A>T (p.Lys1759Asn)
c.5325A>T (p.Lys1775Asn)
c.4299A>T (p.Lys1433Asn)
c.3880A>T
c.3441A>T (p.Lys1147Asn)
c.*1258A>T (n.*1258A>T)
c.4594A>T
c.5367A>T (p.Lys1789Asn)
c.5364A>T (p.Lys1788Asn)
c.5319A>T (p.Lys1773Asn)
c.4443A>T (p.Lys1481Asn)
c.4212A>T (p.Lys1404Asn)
10g.94298537C>ACA377641990PLCE1c.4402C>A (p.Leu1468Met)
c.*1869C>A (n.*1869C>A)
n.2061C>A
n.745C>A
c.*610C>A (n.*610C>A)
c.4354C>A (p.Leu1452Met)
n.9534C>A
n.2999C>A
c.5194C>A (p.Leu1732Met)
c.5278C>A (p.Leu1760Met)
c.5326C>A (p.Leu1776Met)
c.4300C>A (p.Leu1434Met)
c.3881C>A
c.3442C>A (p.Leu1148Met)
c.*1259C>A (n.*1259C>A)
c.4595C>A
c.5368C>A (p.Leu1790Met)
c.5365C>A (p.Leu1789Met)
c.5320C>A (p.Leu1774Met)
c.4444C>A (p.Leu1482Met)
c.4213C>A (p.Leu1405Met)
10g.94298537C>GCA377641991PLCE1c.4402C>G (p.Leu1468Val)
c.*1869C>G (n.*1869C>G)
n.2061C>G
n.745C>G
c.*610C>G (n.*610C>G)
c.4354C>G (p.Leu1452Val)
n.9534C>G
n.2999C>G
c.5194C>G (p.Leu1732Val)
c.5278C>G (p.Leu1760Val)
c.5326C>G (p.Leu1776Val)
c.4300C>G (p.Leu1434Val)
c.3881C>G
c.3442C>G (p.Leu1148Val)
c.*1259C>G (n.*1259C>G)
c.4595C>G
c.5368C>G (p.Leu1790Val)
c.5365C>G (p.Leu1789Val)
c.5320C>G (p.Leu1774Val)
c.4444C>G (p.Leu1482Val)
c.4213C>G (p.Leu1405Val)
gnomAD v4
10g.94298537C>TCA470986547PLCE1c.4402C>T (p.Leu1468=)
c.*1869C>T (n.*1869C>T)
n.2061C>T
n.745C>T
c.*610C>T (n.*610C>T)
c.4354C>T (p.Leu1452=)
n.9534C>T
n.2999C>T
c.5194C>T (p.Leu1732=)
c.5278C>T (p.Leu1760=)
c.5326C>T (p.Leu1776=)
c.4300C>T (p.Leu1434=)
c.3881C>T
c.3442C>T (p.Leu1148=)
c.*1259C>T (n.*1259C>T)
c.4595C>T
c.5368C>T (p.Leu1790=)
c.5365C>T (p.Leu1789=)
c.5320C>T (p.Leu1774=)
c.4444C>T (p.Leu1482=)
c.4213C>T (p.Leu1405=)
10g.94298538T>ACA377641992PLCE1c.4403T>A (p.Leu1468Gln)
c.*1870T>A (n.*1870T>A)
n.2062T>A
n.746T>A
c.*611T>A (n.*611T>A)
c.4355T>A (p.Leu1452Gln)
n.9535T>A
n.3000T>A
c.5195T>A (p.Leu1732Gln)
c.5279T>A (p.Leu1760Gln)
c.5327T>A (p.Leu1776Gln)
c.4301T>A (p.Leu1434Gln)
c.3882T>A
c.3443T>A (p.Leu1148Gln)
c.*1260T>A (n.*1260T>A)
c.4596T>A
c.5369T>A (p.Leu1790Gln)
c.5366T>A (p.Leu1789Gln)
c.5321T>A (p.Leu1774Gln)
c.4445T>A (p.Leu1482Gln)
c.4214T>A (p.Leu1405Gln)
10g.94298538T>CCA377641993PLCE1c.4403T>C (p.Leu1468Pro)
c.*1870T>C (n.*1870T>C)
n.2062T>C
n.746T>C
c.*611T>C (n.*611T>C)
c.4355T>C (p.Leu1452Pro)
n.9535T>C
n.3000T>C
c.5195T>C (p.Leu1732Pro)
c.5279T>C (p.Leu1760Pro)
c.5327T>C (p.Leu1776Pro)
c.4301T>C (p.Leu1434Pro)
c.3882T>C
c.3443T>C (p.Leu1148Pro)
c.*1260T>C (n.*1260T>C)
c.4596T>C
c.5369T>C (p.Leu1790Pro)
c.5366T>C (p.Leu1789Pro)
c.5321T>C (p.Leu1774Pro)
c.4445T>C (p.Leu1482Pro)
c.4214T>C (p.Leu1405Pro)
10g.94298538T>GCA377641994PLCE1c.4403T>G (p.Leu1468Arg)
c.*1870T>G (n.*1870T>G)
n.2062T>G
n.746T>G
c.*611T>G (n.*611T>G)
c.4355T>G (p.Leu1452Arg)
n.9535T>G
n.3000T>G
c.5195T>G (p.Leu1732Arg)
c.5279T>G (p.Leu1760Arg)
c.5327T>G (p.Leu1776Arg)
c.4301T>G (p.Leu1434Arg)
c.3882T>G
c.3443T>G (p.Leu1148Arg)
c.*1260T>G (n.*1260T>G)
c.4596T>G
c.5369T>G (p.Leu1790Arg)
c.5366T>G (p.Leu1789Arg)
c.5321T>G (p.Leu1774Arg)
c.4445T>G (p.Leu1482Arg)
c.4214T>G (p.Leu1405Arg)
10g.94298539G>ACA470986549PLCE1c.4404G>A (p.Leu1468=)
c.*1871G>A (n.*1871G>A)
n.2063G>A
n.747G>A
c.*612G>A (n.*612G>A)
c.4356G>A (p.Leu1452=)
n.9536G>A
n.3001G>A
c.5196G>A (p.Leu1732=)
c.5280G>A (p.Leu1760=)
c.5328G>A (p.Leu1776=)
c.4302G>A (p.Leu1434=)
c.3883G>A
c.3444G>A (p.Leu1148=)
c.*1261G>A (n.*1261G>A)
c.4597G>A
c.5370G>A (p.Leu1790=)
c.5367G>A (p.Leu1789=)
c.5322G>A (p.Leu1774=)
c.4446G>A (p.Leu1482=)
c.4215G>A (p.Leu1405=)
dbSNP gnomAD v3 gnomAD v4
10g.94298539G>CCA470986550PLCE1c.4404G>C (p.Leu1468=)
c.*1871G>C (n.*1871G>C)
n.2063G>C
n.747G>C
c.*612G>C (n.*612G>C)
c.4356G>C (p.Leu1452=)
n.9536G>C
n.3001G>C
c.5196G>C (p.Leu1732=)
c.5280G>C (p.Leu1760=)
c.5328G>C (p.Leu1776=)
c.4302G>C (p.Leu1434=)
c.3883G>C
c.3444G>C (p.Leu1148=)
c.*1261G>C (n.*1261G>C)
c.4597G>C
c.5370G>C (p.Leu1790=)
c.5367G>C (p.Leu1789=)
c.5322G>C (p.Leu1774=)
c.4446G>C (p.Leu1482=)
c.4215G>C (p.Leu1405=)
gnomAD v4
10g.94298539G=CA1928998429PLCE1c.4404G= (p.Leu1468=)
c.*1871G= (n.*1871G=)
n.2063G=
n.747G=
c.*612G= (n.*612G=)
c.4356G= (p.Leu1452=)
n.9536G=
n.3001G=
c.5196G= (p.Leu1732=)
c.5280G= (p.Leu1760=)
c.5328G= (p.Leu1776=)
c.4302G= (p.Leu1434=)
c.3883G=
c.3444G= (p.Leu1148=)
c.*1261G= (n.*1261G=)
c.4597G=
c.5370G= (p.Leu1790=)
c.5367G= (p.Leu1789=)
c.5322G= (p.Leu1774=)
c.4446G= (p.Leu1482=)
c.4215G= (p.Leu1405=)
10g.94298539G>TCA470986551PLCE1c.4404G>T (p.Leu1468=)
c.*1871G>T (n.*1871G>T)
n.2063G>T
n.747G>T
c.*612G>T (n.*612G>T)
c.4356G>T (p.Leu1452=)
n.9536G>T
n.3001G>T
c.5196G>T (p.Leu1732=)
c.5280G>T (p.Leu1760=)
c.5328G>T (p.Leu1776=)
c.4302G>T (p.Leu1434=)
c.3883G>T
c.3444G>T (p.Leu1148=)
c.*1261G>T (n.*1261G>T)
c.4597G>T
c.5370G>T (p.Leu1790=)
c.5367G>T (p.Leu1789=)
c.5322G>T (p.Leu1774=)
c.4446G>T (p.Leu1482=)
c.4215G>T (p.Leu1405=)
10g.94298540A>CCA377641995PLCE1c.4405A>C (p.Thr1469Pro)
c.*1872A>C (n.*1872A>C)
n.2064A>C
n.748A>C
c.*613A>C (n.*613A>C)
c.4357A>C (p.Thr1453Pro)
n.9537A>C
n.3002A>C
c.5197A>C (p.Thr1733Pro)
c.5281A>C (p.Thr1761Pro)
c.5329A>C (p.Thr1777Pro)
c.4303A>C (p.Thr1435Pro)
c.3884A>C
c.3445A>C (p.Thr1149Pro)
c.*1262A>C (n.*1262A>C)
c.4598A>C
c.5371A>C (p.Thr1791Pro)
c.5368A>C (p.Thr1790Pro)
c.5323A>C (p.Thr1775Pro)
c.4447A>C (p.Thr1483Pro)
c.4216A>C (p.Thr1406Pro)
10g.94298540A>GCA377641996PLCE1c.4405A>G (p.Thr1469Ala)
c.*1872A>G (n.*1872A>G)
n.2064A>G
n.748A>G
c.*613A>G (n.*613A>G)
c.4357A>G (p.Thr1453Ala)
n.9537A>G
n.3002A>G
c.5197A>G (p.Thr1733Ala)
c.5281A>G (p.Thr1761Ala)
c.5329A>G (p.Thr1777Ala)
c.4303A>G (p.Thr1435Ala)
c.3884A>G
c.3445A>G (p.Thr1149Ala)
c.*1262A>G (n.*1262A>G)
c.4598A>G
c.5371A>G (p.Thr1791Ala)
c.5368A>G (p.Thr1790Ala)
c.5323A>G (p.Thr1775Ala)
c.4447A>G (p.Thr1483Ala)
c.4216A>G (p.Thr1406Ala)
ClinVar gnomAD v4
10g.94298540A>TCA377641997PLCE1c.4405A>T (p.Thr1469Ser)
c.*1872A>T (n.*1872A>T)
n.2064A>T
n.748A>T
c.*613A>T (n.*613A>T)
c.4357A>T (p.Thr1453Ser)
n.9537A>T
n.3002A>T
c.5197A>T (p.Thr1733Ser)
c.5281A>T (p.Thr1761Ser)
c.5329A>T (p.Thr1777Ser)
c.4303A>T (p.Thr1435Ser)
c.3884A>T
c.3445A>T (p.Thr1149Ser)
c.*1262A>T (n.*1262A>T)
c.4598A>T
c.5371A>T (p.Thr1791Ser)
c.5368A>T (p.Thr1790Ser)
c.5323A>T (p.Thr1775Ser)
c.4447A>T (p.Thr1483Ser)
c.4216A>T (p.Thr1406Ser)
10g.94298541C>ACA377641998PLCE1c.4406C>A (p.Thr1469Asn)
c.*1873C>A (n.*1873C>A)
n.2065C>A
n.749C>A
c.*614C>A (n.*614C>A)
c.4358C>A (p.Thr1453Asn)
n.9538C>A
n.3003C>A
c.5198C>A (p.Thr1733Asn)
c.5282C>A (p.Thr1761Asn)
c.5330C>A (p.Thr1777Asn)
c.4304C>A (p.Thr1435Asn)
c.3885C>A
c.3446C>A (p.Thr1149Asn)
c.*1263C>A (n.*1263C>A)
c.4599C>A
c.5372C>A (p.Thr1791Asn)
c.5369C>A (p.Thr1790Asn)
c.5324C>A (p.Thr1775Asn)
c.4448C>A (p.Thr1483Asn)
c.4217C>A (p.Thr1406Asn)
dbSNP
10g.94298541C=CA1928998430PLCE1c.4406C= (p.Thr1469=)
c.*1873C= (n.*1873C=)
n.2065C=
n.749C=
c.*614C= (n.*614C=)
c.4358C= (p.Thr1453=)
n.9538C=
n.3003C=
c.5198C= (p.Thr1733=)
c.5282C= (p.Thr1761=)
c.5330C= (p.Thr1777=)
c.4304C= (p.Thr1435=)
c.3885C=
c.3446C= (p.Thr1149=)
c.*1263C= (n.*1263C=)
c.4599C=
c.5372C= (p.Thr1791=)
c.5369C= (p.Thr1790=)
c.5324C= (p.Thr1775=)
c.4448C= (p.Thr1483=)
c.4217C= (p.Thr1406=)
10g.94298541C>GCA377641999PLCE1c.4406C>G (p.Thr1469Ser)
c.*1873C>G (n.*1873C>G)
n.2065C>G
n.749C>G
c.*614C>G (n.*614C>G)
c.4358C>G (p.Thr1453Ser)
n.9538C>G
n.3003C>G
c.5198C>G (p.Thr1733Ser)
c.5282C>G (p.Thr1761Ser)
c.5330C>G (p.Thr1777Ser)
c.4304C>G (p.Thr1435Ser)
c.3885C>G
c.3446C>G (p.Thr1149Ser)
c.*1263C>G (n.*1263C>G)
c.4599C>G
c.5372C>G (p.Thr1791Ser)
c.5369C>G (p.Thr1790Ser)
c.5324C>G (p.Thr1775Ser)
c.4448C>G (p.Thr1483Ser)
c.4217C>G (p.Thr1406Ser)
10g.94298541C>TCA5613337PLCE1c.4406C>T (p.Thr1469Ile)
c.*1873C>T (n.*1873C>T)
n.2065C>T
n.749C>T
c.*614C>T (n.*614C>T)
c.4358C>T (p.Thr1453Ile)
n.9538C>T
n.3003C>T
c.5198C>T (p.Thr1733Ile)
c.5282C>T (p.Thr1761Ile)
c.5330C>T (p.Thr1777Ile)
c.4304C>T (p.Thr1435Ile)
c.3885C>T
c.3446C>T (p.Thr1149Ile)
c.*1263C>T (n.*1263C>T)
c.4599C>T
c.5372C>T (p.Thr1791Ile)
c.5369C>T (p.Thr1790Ile)
c.5324C>T (p.Thr1775Ile)
c.4448C>T (p.Thr1483Ile)
c.4217C>T (p.Thr1406Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298542_94298543delCA2789048720PLCE1c.4407_4408del (p.Gln1470AlafsTer?)
c.*1874_*1875del (n.*1874_*1875del)
n.2066_2067del
n.750_751del
c.*615_*616del (n.*615_*616del)
c.4359_4360del (p.Gln1454AlafsTer?)
n.9539_9540del
n.3004_3005del
c.5199_5200del (p.Gln1734AlafsTer?)
c.5283_5284del (p.Gln1762AlafsTer?)
c.5331_5332del (p.Gln1778AlafsTer?)
c.4305_4306del (p.Gln1436AlafsTer?)
c.3886_3887del
c.3447_3448del (p.Gln1150AlafsTer?)
c.*1264_*1265del (n.*1264_*1265del)
c.4600_4601del
c.5373_5374del (p.Gln1792AlafsTer?)
c.5370_5371del (p.Gln1791AlafsTer?)
c.5325_5326del (p.Gln1776AlafsTer?)
c.4449_4450del (p.Gln1484AlafsTer?)
c.4218_4219del (p.Gln1407AlafsTer?)
10g.94298542C>ACA470986554PLCE1c.4407C>A (p.Thr1469=)
c.*1874C>A (n.*1874C>A)
n.2066C>A
n.750C>A
c.*615C>A (n.*615C>A)
c.4359C>A (p.Thr1453=)
n.9539C>A
n.3004C>A
c.5199C>A (p.Thr1733=)
c.5283C>A (p.Thr1761=)
c.5331C>A (p.Thr1777=)
c.4305C>A (p.Thr1435=)
c.3886C>A
c.3447C>A (p.Thr1149=)
c.*1264C>A (n.*1264C>A)
c.4600C>A
c.5373C>A (p.Thr1791=)
c.5370C>A (p.Thr1790=)
c.5325C>A (p.Thr1775=)
c.4449C>A (p.Thr1483=)
c.4218C>A (p.Thr1406=)
10g.94298542C=CA1928998431PLCE1c.4407C= (p.Thr1469=)
c.*1874C= (n.*1874C=)
n.2066C=
n.750C=
c.*615C= (n.*615C=)
c.4359C= (p.Thr1453=)
n.9539C=
n.3004C=
c.5199C= (p.Thr1733=)
c.5283C= (p.Thr1761=)
c.5331C= (p.Thr1777=)
c.4305C= (p.Thr1435=)
c.3886C=
c.3447C= (p.Thr1149=)
c.*1264C= (n.*1264C=)
c.4600C=
c.5373C= (p.Thr1791=)
c.5370C= (p.Thr1790=)
c.5325C= (p.Thr1775=)
c.4449C= (p.Thr1483=)
c.4218C= (p.Thr1406=)
10g.94298542C>GCA470986553PLCE1c.4407C>G (p.Thr1469=)
c.*1874C>G (n.*1874C>G)
n.2066C>G
n.750C>G
c.*615C>G (n.*615C>G)
c.4359C>G (p.Thr1453=)
n.9539C>G
n.3004C>G
c.5199C>G (p.Thr1733=)
c.5283C>G (p.Thr1761=)
c.5331C>G (p.Thr1777=)
c.4305C>G (p.Thr1435=)
c.3886C>G
c.3447C>G (p.Thr1149=)
c.*1264C>G (n.*1264C>G)
c.4600C>G
c.5373C>G (p.Thr1791=)
c.5370C>G (p.Thr1790=)
c.5325C>G (p.Thr1775=)
c.4449C>G (p.Thr1483=)
c.4218C>G (p.Thr1406=)
10g.94298542C>TCA5613338PLCE1c.4407C>T (p.Thr1469=)
c.*1874C>T (n.*1874C>T)
n.2066C>T
n.750C>T
c.*615C>T (n.*615C>T)
c.4359C>T (p.Thr1453=)
n.9539C>T
n.3004C>T
c.5199C>T (p.Thr1733=)
c.5283C>T (p.Thr1761=)
c.5331C>T (p.Thr1777=)
c.4305C>T (p.Thr1435=)
c.3886C>T
c.3447C>T (p.Thr1149=)
c.*1264C>T (n.*1264C>T)
c.4600C>T
c.5373C>T (p.Thr1791=)
c.5370C>T (p.Thr1790=)
c.5325C>T (p.Thr1775=)
c.4449C>T (p.Thr1483=)
c.4218C>T (p.Thr1406=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298543C>ACA377642000PLCE1c.4408C>A (p.Gln1470Lys)
c.*1875C>A (n.*1875C>A)
n.2067C>A
n.751C>A
c.*616C>A (n.*616C>A)
c.4360C>A (p.Gln1454Lys)
n.9540C>A
n.3005C>A
c.5200C>A (p.Gln1734Lys)
c.5284C>A (p.Gln1762Lys)
c.5332C>A (p.Gln1778Lys)
c.4306C>A (p.Gln1436Lys)
c.3887C>A
c.3448C>A (p.Gln1150Lys)
c.*1265C>A (n.*1265C>A)
c.4601C>A
c.5374C>A (p.Gln1792Lys)
c.5371C>A (p.Gln1791Lys)
c.5326C>A (p.Gln1776Lys)
c.4450C>A (p.Gln1484Lys)
c.4219C>A (p.Gln1407Lys)
10g.94298543C>GCA377642001PLCE1c.4408C>G (p.Gln1470Glu)
c.*1875C>G (n.*1875C>G)
n.2067C>G
n.751C>G
c.*616C>G (n.*616C>G)
c.4360C>G (p.Gln1454Glu)
n.9540C>G
n.3005C>G
c.5200C>G (p.Gln1734Glu)
c.5284C>G (p.Gln1762Glu)
c.5332C>G (p.Gln1778Glu)
c.4306C>G (p.Gln1436Glu)
c.3887C>G
c.3448C>G (p.Gln1150Glu)
c.*1265C>G (n.*1265C>G)
c.4601C>G
c.5374C>G (p.Gln1792Glu)
c.5371C>G (p.Gln1791Glu)
c.5326C>G (p.Gln1776Glu)
c.4450C>G (p.Gln1484Glu)
c.4219C>G (p.Gln1407Glu)
10g.94298543C>TCA377642002PLCE1c.4408C>T (p.Gln1470Ter)
c.*1875C>T (n.*1875C>T)
n.2067C>T
n.751C>T
c.*616C>T (n.*616C>T)
c.4360C>T (p.Gln1454Ter)
n.9540C>T
n.3005C>T
c.5200C>T (p.Gln1734Ter)
c.5284C>T (p.Gln1762Ter)
c.5332C>T (p.Gln1778Ter)
c.4306C>T (p.Gln1436Ter)
c.3887C>T
c.3448C>T (p.Gln1150Ter)
c.*1265C>T (n.*1265C>T)
c.4601C>T
c.5374C>T (p.Gln1792Ter)
c.5371C>T (p.Gln1791Ter)
c.5326C>T (p.Gln1776Ter)
c.4450C>T (p.Gln1484Ter)
c.4219C>T (p.Gln1407Ter)
10g.94298544A>CCA377642003PLCE1c.4409A>C (p.Gln1470Pro)
c.*1876A>C (n.*1876A>C)
n.2068A>C
n.752A>C
c.*617A>C (n.*617A>C)
c.4361A>C (p.Gln1454Pro)
n.9541A>C
n.3006A>C
c.5201A>C (p.Gln1734Pro)
c.5285A>C (p.Gln1762Pro)
c.5333A>C (p.Gln1778Pro)
c.4307A>C (p.Gln1436Pro)
c.3888A>C
c.3449A>C (p.Gln1150Pro)
c.*1266A>C (n.*1266A>C)
c.4602A>C
c.5375A>C (p.Gln1792Pro)
c.5372A>C (p.Gln1791Pro)
c.5327A>C (p.Gln1776Pro)
c.4451A>C (p.Gln1484Pro)
c.4220A>C (p.Gln1407Pro)
10g.94298544A>GCA377642004PLCE1c.4409A>G (p.Gln1470Arg)
c.*1876A>G (n.*1876A>G)
n.2068A>G
n.752A>G
c.*617A>G (n.*617A>G)
c.4361A>G (p.Gln1454Arg)
n.9541A>G
n.3006A>G
c.5201A>G (p.Gln1734Arg)
c.5285A>G (p.Gln1762Arg)
c.5333A>G (p.Gln1778Arg)
c.4307A>G (p.Gln1436Arg)
c.3888A>G
c.3449A>G (p.Gln1150Arg)
c.*1266A>G (n.*1266A>G)
c.4602A>G
c.5375A>G (p.Gln1792Arg)
c.5372A>G (p.Gln1791Arg)
c.5327A>G (p.Gln1776Arg)
c.4451A>G (p.Gln1484Arg)
c.4220A>G (p.Gln1407Arg)
10g.94298544A>TCA377642005PLCE1c.4409A>T (p.Gln1470Leu)
c.*1876A>T (n.*1876A>T)
n.2068A>T
n.752A>T
c.*617A>T (n.*617A>T)
c.4361A>T (p.Gln1454Leu)
n.9541A>T
n.3006A>T
c.5201A>T (p.Gln1734Leu)
c.5285A>T (p.Gln1762Leu)
c.5333A>T (p.Gln1778Leu)
c.4307A>T (p.Gln1436Leu)
c.3888A>T
c.3449A>T (p.Gln1150Leu)
c.*1266A>T (n.*1266A>T)
c.4602A>T
c.5375A>T (p.Gln1792Leu)
c.5372A>T (p.Gln1791Leu)
c.5327A>T (p.Gln1776Leu)
c.4451A>T (p.Gln1484Leu)
c.4220A>T (p.Gln1407Leu)
10g.94298545G>ACA470986555PLCE1c.4410G>A (p.Gln1470=)
c.*1877G>A (n.*1877G>A)
n.2069G>A
n.753G>A
c.*618G>A (n.*618G>A)
c.4362G>A (p.Gln1454=)
n.9542G>A
n.3007G>A
c.5202G>A (p.Gln1734=)
c.5286G>A (p.Gln1762=)
c.5334G>A (p.Gln1778=)
c.4308G>A (p.Gln1436=)
c.3889G>A
c.3450G>A (p.Gln1150=)
c.*1267G>A (n.*1267G>A)
c.4603G>A
c.5376G>A (p.Gln1792=)
c.5373G>A (p.Gln1791=)
c.5328G>A (p.Gln1776=)
c.4452G>A (p.Gln1484=)
c.4221G>A (p.Gln1407=)
10g.94298545G>CCA5613339PLCE1c.4410G>C (p.Gln1470His)
c.*1877G>C (n.*1877G>C)
n.2069G>C
n.753G>C
c.*618G>C (n.*618G>C)
c.4362G>C (p.Gln1454His)
n.9542G>C
n.3007G>C
c.5202G>C (p.Gln1734His)
c.5286G>C (p.Gln1762His)
c.5334G>C (p.Gln1778His)
c.4308G>C (p.Gln1436His)
c.3889G>C
c.3450G>C (p.Gln1150His)
c.*1267G>C (n.*1267G>C)
c.4603G>C
c.5376G>C (p.Gln1792His)
c.5373G>C (p.Gln1791His)
c.5328G>C (p.Gln1776His)
c.4452G>C (p.Gln1484His)
c.4221G>C (p.Gln1407His)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298545G=CA1928998432PLCE1c.4410G= (p.Gln1470=)
c.*1877G= (n.*1877G=)
n.2069G=
n.753G=
c.*618G= (n.*618G=)
c.4362G= (p.Gln1454=)
n.9542G=
n.3007G=
c.5202G= (p.Gln1734=)
c.5286G= (p.Gln1762=)
c.5334G= (p.Gln1778=)
c.4308G= (p.Gln1436=)
c.3889G=
c.3450G= (p.Gln1150=)
c.*1267G= (n.*1267G=)
c.4603G=
c.5376G= (p.Gln1792=)
c.5373G= (p.Gln1791=)
c.5328G= (p.Gln1776=)
c.4452G= (p.Gln1484=)
c.4221G= (p.Gln1407=)
10g.94298545G>TCA377642006PLCE1c.4410G>T (p.Gln1470His)
c.*1877G>T (n.*1877G>T)
n.2069G>T
n.753G>T
c.*618G>T (n.*618G>T)
c.4362G>T (p.Gln1454His)
n.9542G>T
n.3007G>T
c.5202G>T (p.Gln1734His)
c.5286G>T (p.Gln1762His)
c.5334G>T (p.Gln1778His)
c.4308G>T (p.Gln1436His)
c.3889G>T
c.3450G>T (p.Gln1150His)
c.*1267G>T (n.*1267G>T)
c.4603G>T
c.5376G>T (p.Gln1792His)
c.5373G>T (p.Gln1791His)
c.5328G>T (p.Gln1776His)
c.4452G>T (p.Gln1484His)
c.4221G>T (p.Gln1407His)
10g.94298546C>ACA377642007PLCE1c.4411C>A (p.His1471Asn)
c.*1878C>A (n.*1878C>A)
n.2070C>A
n.754C>A
c.*619C>A (n.*619C>A)
c.4363C>A (p.His1455Asn)
n.9543C>A
n.3008C>A
c.5203C>A (p.His1735Asn)
c.5287C>A (p.His1763Asn)
c.5335C>A (p.His1779Asn)
c.4309C>A (p.His1437Asn)
c.3890C>A
c.3451C>A (p.His1151Asn)
c.*1268C>A (n.*1268C>A)
c.4604C>A
c.5377C>A (p.His1793Asn)
c.5374C>A (p.His1792Asn)
c.5329C>A (p.His1777Asn)
c.4453C>A (p.His1485Asn)
c.4222C>A (p.His1408Asn)
10g.94298546C>GCA377642008PLCE1c.4411C>G (p.His1471Asp)
c.*1878C>G (n.*1878C>G)
n.2070C>G
n.754C>G
c.*619C>G (n.*619C>G)
c.4363C>G (p.His1455Asp)
n.9543C>G
n.3008C>G
c.5203C>G (p.His1735Asp)
c.5287C>G (p.His1763Asp)
c.5335C>G (p.His1779Asp)
c.4309C>G (p.His1437Asp)
c.3890C>G
c.3451C>G (p.His1151Asp)
c.*1268C>G (n.*1268C>G)
c.4604C>G
c.5377C>G (p.His1793Asp)
c.5374C>G (p.His1792Asp)
c.5329C>G (p.His1777Asp)
c.4453C>G (p.His1485Asp)
c.4222C>G (p.His1408Asp)
10g.94298546C>TCA377642009PLCE1c.4411C>T (p.His1471Tyr)
c.*1878C>T (n.*1878C>T)
n.2070C>T
n.754C>T
c.*619C>T (n.*619C>T)
c.4363C>T (p.His1455Tyr)
n.9543C>T
n.3008C>T
c.5203C>T (p.His1735Tyr)
c.5287C>T (p.His1763Tyr)
c.5335C>T (p.His1779Tyr)
c.4309C>T (p.His1437Tyr)
c.3890C>T
c.3451C>T (p.His1151Tyr)
c.*1268C>T (n.*1268C>T)
c.4604C>T
c.5377C>T (p.His1793Tyr)
c.5374C>T (p.His1792Tyr)
c.5329C>T (p.His1777Tyr)
c.4453C>T (p.His1485Tyr)
c.4222C>T (p.His1408Tyr)
10g.94298546_94298551delCA2789048721PLCE1c.4411_4416del (p.His1471_Thr1472del)
c.*1878_*1883del (n.*1878_*1883del)
n.2070_2075del
n.754_759del
c.*619_*624del (n.*619_*624del)
c.4363_4368del (p.His1455_Thr1456del)
n.9543_9548del
n.3008_3013del
c.5203_5208del (p.His1735_Thr1736del)
c.5287_5292del (p.His1763_Thr1764del)
c.5335_5340del (p.His1779_Thr1780del)
c.4309_4314del (p.His1437_Thr1438del)
c.3890_3895del
c.3451_3456del (p.His1151_Thr1152del)
c.*1268_*1273del (n.*1268_*1273del)
c.4604_4609del
c.5377_5382del (p.His1793_Thr1794del)
c.5374_5379del (p.His1792_Thr1793del)
c.5329_5334del (p.His1777_Thr1778del)
c.4453_4458del (p.His1485_Thr1486del)
c.4222_4227del (p.His1408_Thr1409del)
10g.94298547A>CCA377642010PLCE1c.4412A>C (p.His1471Pro)
c.*1879A>C (n.*1879A>C)
n.2071A>C
n.755A>C
c.*620A>C (n.*620A>C)
c.4364A>C (p.His1455Pro)
n.9544A>C
n.3009A>C
c.5204A>C (p.His1735Pro)
c.5288A>C (p.His1763Pro)
c.5336A>C (p.His1779Pro)
c.4310A>C (p.His1437Pro)
c.3891A>C
c.3452A>C (p.His1151Pro)
c.*1269A>C (n.*1269A>C)
c.4605A>C
c.5378A>C (p.His1793Pro)
c.5375A>C (p.His1792Pro)
c.5330A>C (p.His1777Pro)
c.4454A>C (p.His1485Pro)
c.4223A>C (p.His1408Pro)
10g.94298547A>GCA377642011PLCE1c.4412A>G (p.His1471Arg)
c.*1879A>G (n.*1879A>G)
n.2071A>G
n.755A>G
c.*620A>G (n.*620A>G)
c.4364A>G (p.His1455Arg)
n.9544A>G
n.3009A>G
c.5204A>G (p.His1735Arg)
c.5288A>G (p.His1763Arg)
c.5336A>G (p.His1779Arg)
c.4310A>G (p.His1437Arg)
c.3891A>G
c.3452A>G (p.His1151Arg)
c.*1269A>G (n.*1269A>G)
c.4605A>G
c.5378A>G (p.His1793Arg)
c.5375A>G (p.His1792Arg)
c.5330A>G (p.His1777Arg)
c.4454A>G (p.His1485Arg)
c.4223A>G (p.His1408Arg)
10g.94298547A>TCA377642012PLCE1c.4412A>T (p.His1471Leu)
c.*1879A>T (n.*1879A>T)
n.2071A>T
n.755A>T
c.*620A>T (n.*620A>T)
c.4364A>T (p.His1455Leu)
n.9544A>T
n.3009A>T
c.5204A>T (p.His1735Leu)
c.5288A>T (p.His1763Leu)
c.5336A>T (p.His1779Leu)
c.4310A>T (p.His1437Leu)
c.3891A>T
c.3452A>T (p.His1151Leu)
c.*1269A>T (n.*1269A>T)
c.4605A>T
c.5378A>T (p.His1793Leu)
c.5375A>T (p.His1792Leu)
c.5330A>T (p.His1777Leu)
c.4454A>T (p.His1485Leu)
c.4223A>T (p.His1408Leu)
10g.94298548C>ACA377642013PLCE1c.4413C>A (p.His1471Gln)
c.*1880C>A (n.*1880C>A)
n.2072C>A
n.756C>A
c.*621C>A (n.*621C>A)
c.4365C>A (p.His1455Gln)
n.9545C>A
n.3010C>A
c.5205C>A (p.His1735Gln)
c.5289C>A (p.His1763Gln)
c.5337C>A (p.His1779Gln)
c.4311C>A (p.His1437Gln)
c.3892C>A
c.3453C>A (p.His1151Gln)
c.*1270C>A (n.*1270C>A)
c.4606C>A
c.5379C>A (p.His1793Gln)
c.5376C>A (p.His1792Gln)
c.5331C>A (p.His1777Gln)
c.4455C>A (p.His1485Gln)
c.4224C>A (p.His1408Gln)
10g.94298548C=CA1928998433PLCE1c.4413C= (p.His1471=)
c.*1880C= (n.*1880C=)
n.2072C=
n.756C=
c.*621C= (n.*621C=)
c.4365C= (p.His1455=)
n.9545C=
n.3010C=
c.5205C= (p.His1735=)
c.5289C= (p.His1763=)
c.5337C= (p.His1779=)
c.4311C= (p.His1437=)
c.3892C=
c.3453C= (p.His1151=)
c.*1270C= (n.*1270C=)
c.4606C=
c.5379C= (p.His1793=)
c.5376C= (p.His1792=)
c.5331C= (p.His1777=)
c.4455C= (p.His1485=)
c.4224C= (p.His1408=)
10g.94298548C>GCA377642014PLCE1c.4413C>G (p.His1471Gln)
c.*1880C>G (n.*1880C>G)
n.2072C>G
n.756C>G
c.*621C>G (n.*621C>G)
c.4365C>G (p.His1455Gln)
n.9545C>G
n.3010C>G
c.5205C>G (p.His1735Gln)
c.5289C>G (p.His1763Gln)
c.5337C>G (p.His1779Gln)
c.4311C>G (p.His1437Gln)
c.3892C>G
c.3453C>G (p.His1151Gln)
c.*1270C>G (n.*1270C>G)
c.4606C>G
c.5379C>G (p.His1793Gln)
c.5376C>G (p.His1792Gln)
c.5331C>G (p.His1777Gln)
c.4455C>G (p.His1485Gln)
c.4224C>G (p.His1408Gln)
10g.94298548C>TCA470986557PLCE1c.4413C>T (p.His1471=)
c.*1880C>T (n.*1880C>T)
n.2072C>T
n.756C>T
c.*621C>T (n.*621C>T)
c.4365C>T (p.His1455=)
n.9545C>T
n.3010C>T
c.5205C>T (p.His1735=)
c.5289C>T (p.His1763=)
c.5337C>T (p.His1779=)
c.4311C>T (p.His1437=)
c.3892C>T
c.3453C>T (p.His1151=)
c.*1270C>T (n.*1270C>T)
c.4606C>T
c.5379C>T (p.His1793=)
c.5376C>T (p.His1792=)
c.5331C>T (p.His1777=)
c.4455C>T (p.His1485=)
c.4224C>T (p.His1408=)
dbSNP gnomAD v3 gnomAD v4
10g.94298549A>CCA377642015PLCE1c.4414A>C (p.Thr1472Pro)
c.*1881A>C (n.*1881A>C)
n.2073A>C
n.757A>C
c.*622A>C (n.*622A>C)
c.4366A>C (p.Thr1456Pro)
n.9546A>C
n.3011A>C
c.5206A>C (p.Thr1736Pro)
c.5290A>C (p.Thr1764Pro)
c.5338A>C (p.Thr1780Pro)
c.4312A>C (p.Thr1438Pro)
c.3893A>C
c.3454A>C (p.Thr1152Pro)
c.*1271A>C (n.*1271A>C)
c.4607A>C
c.5380A>C (p.Thr1794Pro)
c.5377A>C (p.Thr1793Pro)
c.5332A>C (p.Thr1778Pro)
c.4456A>C (p.Thr1486Pro)
c.4225A>C (p.Thr1409Pro)
10g.94298549A>GCA377642016PLCE1c.4414A>G (p.Thr1472Ala)
c.*1881A>G (n.*1881A>G)
n.2073A>G
n.757A>G
c.*622A>G (n.*622A>G)
c.4366A>G (p.Thr1456Ala)
n.9546A>G
n.3011A>G
c.5206A>G (p.Thr1736Ala)
c.5290A>G (p.Thr1764Ala)
c.5338A>G (p.Thr1780Ala)
c.4312A>G (p.Thr1438Ala)
c.3893A>G
c.3454A>G (p.Thr1152Ala)
c.*1271A>G (n.*1271A>G)
c.4607A>G
c.5380A>G (p.Thr1794Ala)
c.5377A>G (p.Thr1793Ala)
c.5332A>G (p.Thr1778Ala)
c.4456A>G (p.Thr1486Ala)
c.4225A>G (p.Thr1409Ala)
10g.94298549A>TCA377642017PLCE1c.4414A>T (p.Thr1472Ser)
c.*1881A>T (n.*1881A>T)
n.2073A>T
n.757A>T
c.*622A>T (n.*622A>T)
c.4366A>T (p.Thr1456Ser)
n.9546A>T
n.3011A>T
c.5206A>T (p.Thr1736Ser)
c.5290A>T (p.Thr1764Ser)
c.5338A>T (p.Thr1780Ser)
c.4312A>T (p.Thr1438Ser)
c.3893A>T
c.3454A>T (p.Thr1152Ser)
c.*1271A>T (n.*1271A>T)
c.4607A>T
c.5380A>T (p.Thr1794Ser)
c.5377A>T (p.Thr1793Ser)
c.5332A>T (p.Thr1778Ser)
c.4456A>T (p.Thr1486Ser)
c.4225A>T (p.Thr1409Ser)
10g.94298550C>ACA377642018PLCE1c.4415C>A (p.Thr1472Asn)
c.*1882C>A (n.*1882C>A)
n.2074C>A
n.758C>A
c.*623C>A (n.*623C>A)
c.4367C>A (p.Thr1456Asn)
n.9547C>A
n.3012C>A
c.5207C>A (p.Thr1736Asn)
c.5291C>A (p.Thr1764Asn)
c.5339C>A (p.Thr1780Asn)
c.4313C>A (p.Thr1438Asn)
c.3894C>A
c.3455C>A (p.Thr1152Asn)
c.*1272C>A (n.*1272C>A)
c.4608C>A
c.5381C>A (p.Thr1794Asn)
c.5378C>A (p.Thr1793Asn)
c.5333C>A (p.Thr1778Asn)
c.4457C>A (p.Thr1486Asn)
c.4226C>A (p.Thr1409Asn)
dbSNP
10g.94298550C=CA1928998434PLCE1c.4415C= (p.Thr1472=)
c.*1882C= (n.*1882C=)
n.2074C=
n.758C=
c.*623C= (n.*623C=)
c.4367C= (p.Thr1456=)
n.9547C=
n.3012C=
c.5207C= (p.Thr1736=)
c.5291C= (p.Thr1764=)
c.5339C= (p.Thr1780=)
c.4313C= (p.Thr1438=)
c.3894C=
c.3455C= (p.Thr1152=)
c.*1272C= (n.*1272C=)
c.4608C=
c.5381C= (p.Thr1794=)
c.5378C= (p.Thr1793=)
c.5333C= (p.Thr1778=)
c.4457C= (p.Thr1486=)
c.4226C= (p.Thr1409=)
10g.94298550C>GCA377642019PLCE1c.4415C>G (p.Thr1472Ser)
c.*1882C>G (n.*1882C>G)
n.2074C>G
n.758C>G
c.*623C>G (n.*623C>G)
c.4367C>G (p.Thr1456Ser)
n.9547C>G
n.3012C>G
c.5207C>G (p.Thr1736Ser)
c.5291C>G (p.Thr1764Ser)
c.5339C>G (p.Thr1780Ser)
c.4313C>G (p.Thr1438Ser)
c.3894C>G
c.3455C>G (p.Thr1152Ser)
c.*1272C>G (n.*1272C>G)
c.4608C>G
c.5381C>G (p.Thr1794Ser)
c.5378C>G (p.Thr1793Ser)
c.5333C>G (p.Thr1778Ser)
c.4457C>G (p.Thr1486Ser)
c.4226C>G (p.Thr1409Ser)
10g.94298550C>TCA5613340PLCE1c.4415C>T (p.Thr1472Ile)
c.*1882C>T (n.*1882C>T)
n.2074C>T
n.758C>T
c.*623C>T (n.*623C>T)
c.4367C>T (p.Thr1456Ile)
n.9547C>T
n.3012C>T
c.5207C>T (p.Thr1736Ile)
c.5291C>T (p.Thr1764Ile)
c.5339C>T (p.Thr1780Ile)
c.4313C>T (p.Thr1438Ile)
c.3894C>T
c.3455C>T (p.Thr1152Ile)
c.*1272C>T (n.*1272C>T)
c.4608C>T
c.5381C>T (p.Thr1794Ile)
c.5378C>T (p.Thr1793Ile)
c.5333C>T (p.Thr1778Ile)
c.4457C>T (p.Thr1486Ile)
c.4226C>T (p.Thr1409Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.94298551C>ACA470986559PLCE1c.4416C>A (p.Thr1472=)
c.*1883C>A (n.*1883C>A)
n.2075C>A
n.759C>A
c.*624C>A (n.*624C>A)
c.4368C>A (p.Thr1456=)
n.9548C>A
n.3013C>A
c.5208C>A (p.Thr1736=)
c.5292C>A (p.Thr1764=)
c.5340C>A (p.Thr1780=)
c.4314C>A (p.Thr1438=)
c.3895C>A
c.3456C>A (p.Thr1152=)
c.*1273C>A (n.*1273C>A)
c.4609C>A
c.5382C>A (p.Thr1794=)
c.5379C>A (p.Thr1793=)
c.5334C>A (p.Thr1778=)
c.4458C>A (p.Thr1486=)
c.4227C>A (p.Thr1409=)
dbSNP
10g.94298551C=CA1928998435PLCE1c.4416C= (p.Thr1472=)
c.*1883C= (n.*1883C=)
n.2075C=
n.759C=
c.*624C= (n.*624C=)
c.4368C= (p.Thr1456=)
n.9548C=
n.3013C=
c.5208C= (p.Thr1736=)
c.5292C= (p.Thr1764=)
c.5340C= (p.Thr1780=)
c.4314C= (p.Thr1438=)
c.3895C=
c.3456C= (p.Thr1152=)
c.*1273C= (n.*1273C=)
c.4609C=
c.5382C= (p.Thr1794=)
c.5379C= (p.Thr1793=)
c.5334C= (p.Thr1778=)
c.4458C= (p.Thr1486=)
c.4227C= (p.Thr1409=)
10g.94298551C>GCA470986560PLCE1c.4416C>G (p.Thr1472=)
c.*1883C>G (n.*1883C>G)
n.2075C>G
n.759C>G
c.*624C>G (n.*624C>G)
c.4368C>G (p.Thr1456=)
n.9548C>G
n.3013C>G
c.5208C>G (p.Thr1736=)
c.5292C>G (p.Thr1764=)
c.5340C>G (p.Thr1780=)
c.4314C>G (p.Thr1438=)
c.3895C>G
c.3456C>G (p.Thr1152=)
c.*1273C>G (n.*1273C>G)
c.4609C>G
c.5382C>G (p.Thr1794=)
c.5379C>G (p.Thr1793=)
c.5334C>G (p.Thr1778=)
c.4458C>G (p.Thr1486=)
c.4227C>G (p.Thr1409=)
10g.94298551C>TCA5613341PLCE1c.4416C>T (p.Thr1472=)
c.*1883C>T (n.*1883C>T)
n.2075C>T
n.759C>T
c.*624C>T (n.*624C>T)
c.4368C>T (p.Thr1456=)
n.9548C>T
n.3013C>T
c.5208C>T (p.Thr1736=)
c.5292C>T (p.Thr1764=)
c.5340C>T (p.Thr1780=)
c.4314C>T (p.Thr1438=)
c.3895C>T
c.3456C>T (p.Thr1152=)
c.*1273C>T (n.*1273C>T)
c.4609C>T
c.5382C>T (p.Thr1794=)
c.5379C>T (p.Thr1793=)
c.5334C>T (p.Thr1778=)
c.4458C>T (p.Thr1486=)
c.4227C>T (p.Thr1409=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298552G>ACA5613342PLCE1c.4417G>A (p.Ala1473Thr)
c.*1884G>A (n.*1884G>A)
n.2076G>A
n.760G>A
c.*625G>A (n.*625G>A)
c.4369G>A (p.Ala1457Thr)
n.9549G>A
n.3014G>A
c.5209G>A (p.Ala1737Thr)
c.5293G>A (p.Ala1765Thr)
c.5341G>A (p.Ala1781Thr)
c.4315G>A (p.Ala1439Thr)
c.3896G>A
c.3457G>A (p.Ala1153Thr)
c.*1274G>A (n.*1274G>A)
c.4610G>A
c.5383G>A (p.Ala1795Thr)
c.5380G>A (p.Ala1794Thr)
c.5335G>A (p.Ala1779Thr)
c.4459G>A (p.Ala1487Thr)
c.4228G>A (p.Ala1410Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94298552G>CCA377642020PLCE1c.4417G>C (p.Ala1473Pro)
c.*1884G>C (n.*1884G>C)
n.2076G>C
n.760G>C
c.*625G>C (n.*625G>C)
c.4369G>C (p.Ala1457Pro)
n.9549G>C
n.3014G>C
c.5209G>C (p.Ala1737Pro)
c.5293G>C (p.Ala1765Pro)
c.5341G>C (p.Ala1781Pro)
c.4315G>C (p.Ala1439Pro)
c.3896G>C
c.3457G>C (p.Ala1153Pro)
c.*1274G>C (n.*1274G>C)
c.4610G>C
c.5383G>C (p.Ala1795Pro)
c.5380G>C (p.Ala1794Pro)
c.5335G>C (p.Ala1779Pro)
c.4459G>C (p.Ala1487Pro)
c.4228G>C (p.Ala1410Pro)
10g.94298552G=CA1928998436PLCE1c.4417G= (p.Ala1473=)
c.*1884G= (n.*1884G=)
n.2076G=
n.760G=
c.*625G= (n.*625G=)
c.4369G= (p.Ala1457=)
n.9549G=
n.3014G=
c.5209G= (p.Ala1737=)
c.5293G= (p.Ala1765=)
c.5341G= (p.Ala1781=)
c.4315G= (p.Ala1439=)
c.3896G=
c.3457G= (p.Ala1153=)
c.*1274G= (n.*1274G=)
c.4610G=
c.5383G= (p.Ala1795=)
c.5380G= (p.Ala1794=)
c.5335G= (p.Ala1779=)
c.4459G= (p.Ala1487=)
c.4228G= (p.Ala1410=)
10g.94298552G>TCA377642021PLCE1c.4417G>T (p.Ala1473Ser)
c.*1884G>T (n.*1884G>T)
n.2076G>T
n.760G>T
c.*625G>T (n.*625G>T)
c.4369G>T (p.Ala1457Ser)
n.9549G>T
n.3014G>T
c.5209G>T (p.Ala1737Ser)
c.5293G>T (p.Ala1765Ser)
c.5341G>T (p.Ala1781Ser)
c.4315G>T (p.Ala1439Ser)
c.3896G>T
c.3457G>T (p.Ala1153Ser)
c.*1274G>T (n.*1274G>T)
c.4610G>T
c.5383G>T (p.Ala1795Ser)
c.5380G>T (p.Ala1794Ser)
c.5335G>T (p.Ala1779Ser)
c.4459G>T (p.Ala1487Ser)
c.4228G>T (p.Ala1410Ser)
dbSNP gnomAD v4
10g.94298553C>ACA377642022PLCE1c.4418C>A (p.Ala1473Asp)
c.*1885C>A (n.*1885C>A)
n.2077C>A
n.761C>A
c.*626C>A (n.*626C>A)
c.4370C>A (p.Ala1457Asp)
n.9550C>A
n.3015C>A
c.5210C>A (p.Ala1737Asp)
c.5294C>A (p.Ala1765Asp)
c.5342C>A (p.Ala1781Asp)
c.4316C>A (p.Ala1439Asp)
c.3897C>A
c.3458C>A (p.Ala1153Asp)
c.*1275C>A (n.*1275C>A)
c.4611C>A
c.5384C>A (p.Ala1795Asp)
c.5381C>A (p.Ala1794Asp)
c.5336C>A (p.Ala1779Asp)
c.4460C>A (p.Ala1487Asp)
c.4229C>A (p.Ala1410Asp)
10g.94298553C=CA1928998437PLCE1c.4418C= (p.Ala1473=)
c.*1885C= (n.*1885C=)
n.2077C=
n.761C=
c.*626C= (n.*626C=)
c.4370C= (p.Ala1457=)
n.9550C=
n.3015C=
c.5210C= (p.Ala1737=)
c.5294C= (p.Ala1765=)
c.5342C= (p.Ala1781=)
c.4316C= (p.Ala1439=)
c.3897C=
c.3458C= (p.Ala1153=)
c.*1275C= (n.*1275C=)
c.4611C=
c.5384C= (p.Ala1795=)
c.5381C= (p.Ala1794=)
c.5336C= (p.Ala1779=)
c.4460C= (p.Ala1487=)
c.4229C= (p.Ala1410=)
10g.94298553C>GCA377642023PLCE1c.4418C>G (p.Ala1473Gly)
c.*1885C>G (n.*1885C>G)
n.2077C>G
n.761C>G
c.*626C>G (n.*626C>G)
c.4370C>G (p.Ala1457Gly)
n.9550C>G
n.3015C>G
c.5210C>G (p.Ala1737Gly)
c.5294C>G (p.Ala1765Gly)
c.5342C>G (p.Ala1781Gly)
c.4316C>G (p.Ala1439Gly)
c.3897C>G
c.3458C>G (p.Ala1153Gly)
c.*1275C>G (n.*1275C>G)
c.4611C>G
c.5384C>G (p.Ala1795Gly)
c.5381C>G (p.Ala1794Gly)
c.5336C>G (p.Ala1779Gly)
c.4460C>G (p.Ala1487Gly)
c.4229C>G (p.Ala1410Gly)
10g.94298553C>TCA377642024PLCE1c.4418C>T (p.Ala1473Val)
c.*1885C>T (n.*1885C>T)
n.2077C>T
n.761C>T
c.*626C>T (n.*626C>T)
c.4370C>T (p.Ala1457Val)
n.9550C>T
n.3015C>T
c.5210C>T (p.Ala1737Val)
c.5294C>T (p.Ala1765Val)
c.5342C>T (p.Ala1781Val)
c.4316C>T (p.Ala1439Val)
c.3897C>T
c.3458C>T (p.Ala1153Val)
c.*1275C>T (n.*1275C>T)
c.4611C>T
c.5384C>T (p.Ala1795Val)
c.5381C>T (p.Ala1794Val)
c.5336C>T (p.Ala1779Val)
c.4460C>T (p.Ala1487Val)
c.4229C>T (p.Ala1410Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.94298554C>ACA470986561PLCE1c.4419C>A (p.Ala1473=)
c.*1886C>A (n.*1886C>A)
n.2078C>A
n.762C>A
c.*627C>A (n.*627C>A)
c.4371C>A (p.Ala1457=)
n.9551C>A
n.3016C>A
c.5211C>A (p.Ala1737=)
c.5295C>A (p.Ala1765=)
c.5343C>A (p.Ala1781=)
c.4317C>A (p.Ala1439=)
c.3898C>A
c.3459C>A (p.Ala1153=)
c.*1276C>A (n.*1276C>A)
c.4612C>A
c.5385C>A (p.Ala1795=)
c.5382C>A (p.Ala1794=)
c.5337C>A (p.Ala1779=)
c.4461C>A (p.Ala1487=)
c.4230C>A (p.Ala1410=)
10g.94298554C>GCA470986562PLCE1c.4419C>G (p.Ala1473=)
c.*1886C>G (n.*1886C>G)
n.2078C>G
n.762C>G
c.*627C>G (n.*627C>G)
c.4371C>G (p.Ala1457=)
n.9551C>G
n.3016C>G
c.5211C>G (p.Ala1737=)
c.5295C>G (p.Ala1765=)
c.5343C>G (p.Ala1781=)
c.4317C>G (p.Ala1439=)
c.3898C>G
c.3459C>G (p.Ala1153=)
c.*1276C>G (n.*1276C>G)
c.4612C>G
c.5385C>G (p.Ala1795=)
c.5382C>G (p.Ala1794=)
c.5337C>G (p.Ala1779=)
c.4461C>G (p.Ala1487=)
c.4230C>G (p.Ala1410=)
10g.94298554C>TCA470986563PLCE1c.4419C>T (p.Ala1473=)
c.*1886C>T (n.*1886C>T)
n.2078C>T
n.762C>T
c.*627C>T (n.*627C>T)
c.4371C>T (p.Ala1457=)
n.9551C>T
n.3016C>T
c.5211C>T (p.Ala1737=)
c.5295C>T (p.Ala1765=)
c.5343C>T (p.Ala1781=)
c.4317C>T (p.Ala1439=)
c.3898C>T
c.3459C>T (p.Ala1153=)
c.*1276C>T (n.*1276C>T)
c.4612C>T
c.5385C>T (p.Ala1795=)
c.5382C>T (p.Ala1794=)
c.5337C>T (p.Ala1779=)
c.4461C>T (p.Ala1487=)
c.4230C>T (p.Ala1410=)
10g.94298555T>ACA377642025PLCE1c.4420T>A (p.Cys1474Ser)
c.*1887T>A (n.*1887T>A)
n.2079T>A
n.763T>A
c.*628T>A (n.*628T>A)
c.4372T>A (p.Cys1458Ser)
n.9552T>A
n.3017T>A
c.5212T>A (p.Cys1738Ser)
c.5296T>A (p.Cys1766Ser)
c.5344T>A (p.Cys1782Ser)
c.4318T>A (p.Cys1440Ser)
c.3899T>A
c.3460T>A (p.Cys1154Ser)
c.*1277T>A (n.*1277T>A)
c.4613T>A
c.5386T>A (p.Cys1796Ser)
c.5383T>A (p.Cys1795Ser)
c.5338T>A (p.Cys1780Ser)
c.4462T>A (p.Cys1488Ser)
c.4231T>A (p.Cys1411Ser)
10g.94298555T>CCA377642027PLCE1c.4420T>C (p.Cys1474Arg)
c.*1887T>C (n.*1887T>C)
n.2079T>C
n.763T>C
c.*628T>C (n.*628T>C)
c.4372T>C (p.Cys1458Arg)
n.9552T>C
n.3017T>C
c.5212T>C (p.Cys1738Arg)
c.5296T>C (p.Cys1766Arg)
c.5344T>C (p.Cys1782Arg)
c.4318T>C (p.Cys1440Arg)
c.3899T>C
c.3460T>C (p.Cys1154Arg)
c.*1277T>C (n.*1277T>C)
c.4613T>C
c.5386T>C (p.Cys1796Arg)
c.5383T>C (p.Cys1795Arg)
c.5338T>C (p.Cys1780Arg)
c.4462T>C (p.Cys1488Arg)
c.4231T>C (p.Cys1411Arg)
10g.94298555T>GCA377642026PLCE1c.4420T>G (p.Cys1474Gly)
c.*1887T>G (n.*1887T>G)
n.2079T>G
n.763T>G
c.*628T>G (n.*628T>G)
c.4372T>G (p.Cys1458Gly)
n.9552T>G
n.3017T>G
c.5212T>G (p.Cys1738Gly)
c.5296T>G (p.Cys1766Gly)
c.5344T>G (p.Cys1782Gly)
c.4318T>G (p.Cys1440Gly)
c.3899T>G
c.3460T>G (p.Cys1154Gly)
c.*1277T>G (n.*1277T>G)
c.4613T>G
c.5386T>G (p.Cys1796Gly)
c.5383T>G (p.Cys1795Gly)
c.5338T>G (p.Cys1780Gly)
c.4462T>G (p.Cys1488Gly)
c.4231T>G (p.Cys1411Gly)
10g.94298556G>ACA377642028PLCE1c.4421G>A (p.Cys1474Tyr)
c.*1888G>A (n.*1888G>A)
n.2080G>A
n.764G>A
c.*629G>A (n.*629G>A)
c.4373G>A (p.Cys1458Tyr)
n.9553G>A
n.3018G>A
c.5213G>A (p.Cys1738Tyr)
c.5297G>A (p.Cys1766Tyr)
c.5345G>A (p.Cys1782Tyr)
c.4319G>A (p.Cys1440Tyr)
c.3900G>A
c.3461G>A (p.Cys1154Tyr)
c.*1278G>A (n.*1278G>A)
c.4614G>A
c.5387G>A (p.Cys1796Tyr)
c.5384G>A (p.Cys1795Tyr)
c.5339G>A (p.Cys1780Tyr)
c.4463G>A (p.Cys1488Tyr)
c.4232G>A (p.Cys1411Tyr)
gnomAD v4
10g.94298556G>CCA377642029PLCE1c.4421G>C (p.Cys1474Ser)
c.*1888G>C (n.*1888G>C)
n.2080G>C
n.764G>C
c.*629G>C (n.*629G>C)
c.4373G>C (p.Cys1458Ser)
n.9553G>C
n.3018G>C
c.5213G>C (p.Cys1738Ser)
c.5297G>C (p.Cys1766Ser)
c.5345G>C (p.Cys1782Ser)
c.4319G>C (p.Cys1440Ser)
c.3900G>C
c.3461G>C (p.Cys1154Ser)
c.*1278G>C (n.*1278G>C)
c.4614G>C
c.5387G>C (p.Cys1796Ser)
c.5384G>C (p.Cys1795Ser)
c.5339G>C (p.Cys1780Ser)
c.4463G>C (p.Cys1488Ser)
c.4232G>C (p.Cys1411Ser)
10g.94298556G>TCA377642030PLCE1c.4421G>T (p.Cys1474Phe)
c.*1888G>T (n.*1888G>T)
n.2080G>T
n.764G>T
c.*629G>T (n.*629G>T)
c.4373G>T (p.Cys1458Phe)
n.9553G>T
n.3018G>T
c.5213G>T (p.Cys1738Phe)
c.5297G>T (p.Cys1766Phe)
c.5345G>T (p.Cys1782Phe)
c.4319G>T (p.Cys1440Phe)
c.3900G>T
c.3461G>T (p.Cys1154Phe)
c.*1278G>T (n.*1278G>T)
c.4614G>T
c.5387G>T (p.Cys1796Phe)
c.5384G>T (p.Cys1795Phe)
c.5339G>T (p.Cys1780Phe)
c.4463G>T (p.Cys1488Phe)
c.4232G>T (p.Cys1411Phe)
10g.94298556_94298557insGGCA2789048722PLCE1c.4421_4422insGG (p.Cys1474TrpfsTer5)
c.*1888_*1889insGG (n.*1888_*1889insGG)
n.2080_2081insGG
n.764_765insGG
c.*629_*630insGG (n.*629_*630insGG)
c.4373_4374insGG (p.Cys1458TrpfsTer5)
n.9553_9554insGG
n.3018_3019insGG
c.5213_5214insGG (p.Cys1738TrpfsTer5)
c.5297_5298insGG (p.Cys1766TrpfsTer5)
c.5345_5346insGG (p.Cys1782TrpfsTer5)
c.4319_4320insGG (p.Cys1440TrpfsTer5)
c.3900_3901insGG
c.3461_3462insGG (p.Cys1154TrpfsTer5)
c.*1278_*1279insGG (n.*1278_*1279insGG)
c.4614_4615insGG
c.5387_5388insGG (p.Cys1796TrpfsTer5)
c.5384_5385insGG (p.Cys1795TrpfsTer5)
c.5339_5340insGG (p.Cys1780TrpfsTer5)
c.4463_4464insGG (p.Cys1488TrpfsTer5)
c.4232_4233insGG (p.Cys1411TrpfsTer5)
10g.94298557T>ACA377642031PLCE1c.4422T>A (p.Cys1474Ter)
c.*1889T>A (n.*1889T>A)
n.2081T>A
n.765T>A
c.*630T>A (n.*630T>A)
c.4374T>A (p.Cys1458Ter)
n.9554T>A
n.3019T>A
c.5214T>A (p.Cys1738Ter)
c.5298T>A (p.Cys1766Ter)
c.5346T>A (p.Cys1782Ter)
c.4320T>A (p.Cys1440Ter)
c.3901T>A
c.3462T>A (p.Cys1154Ter)
c.*1279T>A (n.*1279T>A)
c.4615T>A
c.5388T>A (p.Cys1796Ter)
c.5385T>A (p.Cys1795Ter)
c.5340T>A (p.Cys1780Ter)
c.4464T>A (p.Cys1488Ter)
c.4233T>A (p.Cys1411Ter)
10g.94298557T>CCA470986564PLCE1c.4422T>C (p.Cys1474=)
c.*1889T>C (n.*1889T>C)
n.2081T>C
n.765T>C
c.*630T>C (n.*630T>C)
c.4374T>C (p.Cys1458=)
n.9554T>C
n.3019T>C
c.5214T>C (p.Cys1738=)
c.5298T>C (p.Cys1766=)
c.5346T>C (p.Cys1782=)
c.4320T>C (p.Cys1440=)
c.3901T>C
c.3462T>C (p.Cys1154=)
c.*1279T>C (n.*1279T>C)
c.4615T>C
c.5388T>C (p.Cys1796=)
c.5385T>C (p.Cys1795=)
c.5340T>C (p.Cys1780=)
c.4464T>C (p.Cys1488=)
c.4233T>C (p.Cys1411=)
10g.94298557T>GCA377642032PLCE1c.4422T>G (p.Cys1474Trp)
c.*1889T>G (n.*1889T>G)
n.2081T>G
n.765T>G
c.*630T>G (n.*630T>G)
c.4374T>G (p.Cys1458Trp)
n.9554T>G
n.3019T>G
c.5214T>G (p.Cys1738Trp)
c.5298T>G (p.Cys1766Trp)
c.5346T>G (p.Cys1782Trp)
c.4320T>G (p.Cys1440Trp)
c.3901T>G
c.3462T>G (p.Cys1154Trp)
c.*1279T>G (n.*1279T>G)
c.4615T>G
c.5388T>G (p.Cys1796Trp)
c.5385T>G (p.Cys1795Trp)
c.5340T>G (p.Cys1780Trp)
c.4464T>G (p.Cys1488Trp)
c.4233T>G (p.Cys1411Trp)

Number of alleles fetched