| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94298546_94298551del | CA2789048721 | PLCE1 | c.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) | |
| 10 | g.94298548C>A | CA377642013 | PLCE1 | c.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) | |
| 10 | g.94298548C= | CA1928998433 | PLCE1 | c.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=) | |
| 10 | g.94298548C>G | CA377642014 | PLCE1 | c.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) | |
| 10 | g.94298548C>T | CA470986557 | PLCE1 | c.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 |
| 10 | g.94298549A>C | CA377642015 | PLCE1 | c.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) | |
| 10 | g.94298549A>G | CA377642016 | PLCE1 | c.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) | |
| 10 | g.94298549A>T | CA377642017 | PLCE1 | c.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) | |
| 10 | g.94298550C>A | CA377642018 | PLCE1 | c.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 |
| 10 | g.94298550C= | CA1928998434 | PLCE1 | c.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=) | |
| 10 | g.94298550C>G | CA377642019 | PLCE1 | c.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) | |
| 10 | g.94298550C>T | CA5613340 | PLCE1 | c.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 |
| 10 | g.94298551C>A | CA470986559 | PLCE1 | c.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 |
| 10 | g.94298551C= | CA1928998435 | PLCE1 | c.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=) | |
| 10 | g.94298551C>G | CA470986560 | PLCE1 | c.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=) | |
| 10 | g.94298551C>T | CA5613341 | PLCE1 | c.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=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94298552G>A | CA5613342 | PLCE1 | c.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 |
| 10 | g.94298552G>C | CA377642020 | PLCE1 | c.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) | |
| 10 | g.94298552G= | CA1928998436 | PLCE1 | c.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=) | |
| 10 | g.94298552G>T | CA377642021 | PLCE1 | c.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 |
| 10 | g.94298553C>A | CA377642022 | PLCE1 | c.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) | |
| 10 | g.94298553C= | CA1928998437 | PLCE1 | c.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=) | |
| 10 | g.94298553C>G | CA377642023 | PLCE1 | c.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) | |
| 10 | g.94298553C>T | CA377642024 | PLCE1 | c.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 |
| 10 | g.94298554C>A | CA470986561 | PLCE1 | c.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=) | |
| 10 | g.94298554C>G | CA470986562 | PLCE1 | c.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=) | |
| 10 | g.94298554C>T | CA470986563 | PLCE1 | c.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=) | |
| 10 | g.94298555T>A | CA377642025 | PLCE1 | c.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) | |
| 10 | g.94298555T>C | CA377642027 | PLCE1 | c.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) | |
| 10 | g.94298555T>G | CA377642026 | PLCE1 | c.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) | |
| 10 | g.94298556G>A | CA377642028 | PLCE1 | c.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 |
| 10 | g.94298556G>C | CA377642029 | PLCE1 | c.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) | |
| 10 | g.94298556G>T | CA377642030 | PLCE1 | c.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) | |
| 10 | g.94298556_94298557insGG | CA2789048722 | PLCE1 | c.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) | |
| 10 | g.94298557T>A | CA377642031 | PLCE1 | c.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) | |
| 10 | g.94298557T>C | CA470986564 | PLCE1 | c.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=) | |
| 10 | g.94298557T>G | CA377642032 | PLCE1 | c.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) | |
| 10 | g.94298558C>A | CA377642033 | PLCE1 | c.4423C>A (p.Gln1475Lys) c.*1890C>A (n.*1890C>A) n.2082C>A n.766C>A c.*631C>A (n.*631C>A) c.4375C>A (p.Gln1459Lys) n.9555C>A n.3020C>A c.5215C>A (p.Gln1739Lys) c.5299C>A (p.Gln1767Lys) c.5347C>A (p.Gln1783Lys) c.4321C>A (p.Gln1441Lys) c.3902C>A c.3463C>A (p.Gln1155Lys) c.*1280C>A (n.*1280C>A) c.4616C>A c.5389C>A (p.Gln1797Lys) c.5386C>A (p.Gln1796Lys) c.5341C>A (p.Gln1781Lys) c.4465C>A (p.Gln1489Lys) c.4234C>A (p.Gln1412Lys) | |
| 10 | g.94298558C>G | CA377642034 | PLCE1 | c.4423C>G (p.Gln1475Glu) c.*1890C>G (n.*1890C>G) n.2082C>G n.766C>G c.*631C>G (n.*631C>G) c.4375C>G (p.Gln1459Glu) n.9555C>G n.3020C>G c.5215C>G (p.Gln1739Glu) c.5299C>G (p.Gln1767Glu) c.5347C>G (p.Gln1783Glu) c.4321C>G (p.Gln1441Glu) c.3902C>G c.3463C>G (p.Gln1155Glu) c.*1280C>G (n.*1280C>G) c.4616C>G c.5389C>G (p.Gln1797Glu) c.5386C>G (p.Gln1796Glu) c.5341C>G (p.Gln1781Glu) c.4465C>G (p.Gln1489Glu) c.4234C>G (p.Gln1412Glu) | gnomAD v4 |
| 10 | g.94298558C>T | CA377642035 | PLCE1 | c.4423C>T (p.Gln1475Ter) c.*1890C>T (n.*1890C>T) n.2082C>T n.766C>T c.*631C>T (n.*631C>T) c.4375C>T (p.Gln1459Ter) n.9555C>T n.3020C>T c.5215C>T (p.Gln1739Ter) c.5299C>T (p.Gln1767Ter) c.5347C>T (p.Gln1783Ter) c.4321C>T (p.Gln1441Ter) c.3902C>T c.3463C>T (p.Gln1155Ter) c.*1280C>T (n.*1280C>T) c.4616C>T c.5389C>T (p.Gln1797Ter) c.5386C>T (p.Gln1796Ter) c.5341C>T (p.Gln1781Ter) c.4465C>T (p.Gln1489Ter) c.4234C>T (p.Gln1412Ter) | |
| 10 | g.94298559A= | CA1928998438 | PLCE1 | c.4424A= (p.Gln1475=) c.*1891A= (n.*1891A=) n.2083A= n.767A= c.*632A= (n.*632A=) c.4376A= (p.Gln1459=) n.9556A= n.3021A= c.5216A= (p.Gln1739=) c.5300A= (p.Gln1767=) c.5348A= (p.Gln1783=) c.4322A= (p.Gln1441=) c.3903A= c.3464A= (p.Gln1155=) c.*1281A= (n.*1281A=) c.4617A= c.5390A= (p.Gln1797=) c.5387A= (p.Gln1796=) c.5342A= (p.Gln1781=) c.4466A= (p.Gln1489=) c.4235A= (p.Gln1412=) | |
| 10 | g.94298559A>C | CA377642036 | PLCE1 | c.4424A>C (p.Gln1475Pro) c.*1891A>C (n.*1891A>C) n.2083A>C n.767A>C c.*632A>C (n.*632A>C) c.4376A>C (p.Gln1459Pro) n.9556A>C n.3021A>C c.5216A>C (p.Gln1739Pro) c.5300A>C (p.Gln1767Pro) c.5348A>C (p.Gln1783Pro) c.4322A>C (p.Gln1441Pro) c.3903A>C c.3464A>C (p.Gln1155Pro) c.*1281A>C (n.*1281A>C) c.4617A>C c.5390A>C (p.Gln1797Pro) c.5387A>C (p.Gln1796Pro) c.5342A>C (p.Gln1781Pro) c.4466A>C (p.Gln1489Pro) c.4235A>C (p.Gln1412Pro) | |
| 10 | g.94298559A>G | CA5613343 | PLCE1 | c.4424A>G (p.Gln1475Arg) c.*1891A>G (n.*1891A>G) n.2083A>G n.767A>G c.*632A>G (n.*632A>G) c.4376A>G (p.Gln1459Arg) n.9556A>G n.3021A>G c.5216A>G (p.Gln1739Arg) c.5300A>G (p.Gln1767Arg) c.5348A>G (p.Gln1783Arg) c.4322A>G (p.Gln1441Arg) c.3903A>G c.3464A>G (p.Gln1155Arg) c.*1281A>G (n.*1281A>G) c.4617A>G c.5390A>G (p.Gln1797Arg) c.5387A>G (p.Gln1796Arg) c.5342A>G (p.Gln1781Arg) c.4466A>G (p.Gln1489Arg) c.4235A>G (p.Gln1412Arg) | dbSNP ExAC gnomAD v2 |
| 10 | g.94298559A>T | CA377642037 | PLCE1 | c.4424A>T (p.Gln1475Leu) c.*1891A>T (n.*1891A>T) n.2083A>T n.767A>T c.*632A>T (n.*632A>T) c.4376A>T (p.Gln1459Leu) n.9556A>T n.3021A>T c.5216A>T (p.Gln1739Leu) c.5300A>T (p.Gln1767Leu) c.5348A>T (p.Gln1783Leu) c.4322A>T (p.Gln1441Leu) c.3903A>T c.3464A>T (p.Gln1155Leu) c.*1281A>T (n.*1281A>T) c.4617A>T c.5390A>T (p.Gln1797Leu) c.5387A>T (p.Gln1796Leu) c.5342A>T (p.Gln1781Leu) c.4466A>T (p.Gln1489Leu) c.4235A>T (p.Gln1412Leu) | |
| 10 | g.94298560G>A | CA470986567 | PLCE1 | c.4425G>A (p.Gln1475=) c.*1892G>A (n.*1892G>A) n.2084G>A n.768G>A c.*633G>A (n.*633G>A) c.4377G>A (p.Gln1459=) n.9557G>A n.3022G>A c.5217G>A (p.Gln1739=) c.5301G>A (p.Gln1767=) c.5349G>A (p.Gln1783=) c.4323G>A (p.Gln1441=) c.3904G>A c.3465G>A (p.Gln1155=) c.*1282G>A (n.*1282G>A) c.4618G>A c.5391G>A (p.Gln1797=) c.5388G>A (p.Gln1796=) c.5343G>A (p.Gln1781=) c.4467G>A (p.Gln1489=) c.4236G>A (p.Gln1412=) | dbSNP |
| 10 | g.94298560G>C | CA377642038 | PLCE1 | c.4425G>C (p.Gln1475His) c.*1892G>C (n.*1892G>C) n.2084G>C n.768G>C c.*633G>C (n.*633G>C) c.4377G>C (p.Gln1459His) n.9557G>C n.3022G>C c.5217G>C (p.Gln1739His) c.5301G>C (p.Gln1767His) c.5349G>C (p.Gln1783His) c.4323G>C (p.Gln1441His) c.3904G>C c.3465G>C (p.Gln1155His) c.*1282G>C (n.*1282G>C) c.4618G>C c.5391G>C (p.Gln1797His) c.5388G>C (p.Gln1796His) c.5343G>C (p.Gln1781His) c.4467G>C (p.Gln1489His) c.4236G>C (p.Gln1412His) | |
| 10 | g.94298560G= | CA1928998439 | PLCE1 | c.4425G= (p.Gln1475=) c.*1892G= (n.*1892G=) n.2084G= n.768G= c.*633G= (n.*633G=) c.4377G= (p.Gln1459=) n.9557G= n.3022G= c.5217G= (p.Gln1739=) c.5301G= (p.Gln1767=) c.5349G= (p.Gln1783=) c.4323G= (p.Gln1441=) c.3904G= c.3465G= (p.Gln1155=) c.*1282G= (n.*1282G=) c.4618G= c.5391G= (p.Gln1797=) c.5388G= (p.Gln1796=) c.5343G= (p.Gln1781=) c.4467G= (p.Gln1489=) c.4236G= (p.Gln1412=) | |
| 10 | g.94298560G>T | CA377642039 | PLCE1 | c.4425G>T (p.Gln1475His) c.*1892G>T (n.*1892G>T) n.2084G>T n.768G>T c.*633G>T (n.*633G>T) c.4377G>T (p.Gln1459His) n.9557G>T n.3022G>T c.5217G>T (p.Gln1739His) c.5301G>T (p.Gln1767His) c.5349G>T (p.Gln1783His) c.4323G>T (p.Gln1441His) c.3904G>T c.3465G>T (p.Gln1155His) c.*1282G>T (n.*1282G>T) c.4618G>T c.5391G>T (p.Gln1797His) c.5388G>T (p.Gln1796His) c.5343G>T (p.Gln1781His) c.4467G>T (p.Gln1489His) c.4236G>T (p.Gln1412His) | gnomAD v4 |
| 10 | g.94298561C>A | CA377642041 | PLCE1 | c.4426C>A (p.Leu1476Met) c.*1893C>A (n.*1893C>A) n.2085C>A n.769C>A c.*634C>A (n.*634C>A) c.4378C>A (p.Leu1460Met) n.9558C>A n.3023C>A c.5218C>A (p.Leu1740Met) c.5302C>A (p.Leu1768Met) c.5350C>A (p.Leu1784Met) c.4324C>A (p.Leu1442Met) c.3905C>A c.3466C>A (p.Leu1156Met) c.*1283C>A (n.*1283C>A) c.4619C>A c.5392C>A (p.Leu1798Met) c.5389C>A (p.Leu1797Met) c.5344C>A (p.Leu1782Met) c.4468C>A (p.Leu1490Met) c.4237C>A (p.Leu1413Met) | |
| 10 | g.94298561C>G | CA377642040 | PLCE1 | c.4426C>G (p.Leu1476Val) c.*1893C>G (n.*1893C>G) n.2085C>G n.769C>G c.*634C>G (n.*634C>G) c.4378C>G (p.Leu1460Val) n.9558C>G n.3023C>G c.5218C>G (p.Leu1740Val) c.5302C>G (p.Leu1768Val) c.5350C>G (p.Leu1784Val) c.4324C>G (p.Leu1442Val) c.3905C>G c.3466C>G (p.Leu1156Val) c.*1283C>G (n.*1283C>G) c.4619C>G c.5392C>G (p.Leu1798Val) c.5389C>G (p.Leu1797Val) c.5344C>G (p.Leu1782Val) c.4468C>G (p.Leu1490Val) c.4237C>G (p.Leu1413Val) |