Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.94298392C>A | CA470986397 | PLCE1 | c.4257C>A (p.Gly1419=) c.*1724C>A (n.*1724C>A) n.1916C>A n.600C>A c.*465C>A (n.*465C>A) c.4209C>A (p.Gly1403=) n.9389C>A n.2854C>A c.5049C>A (p.Gly1683=) c.5133C>A (p.Gly1711=) c.5181C>A (p.Gly1727=) c.4155C>A (p.Gly1385=) c.3736C>A c.3297C>A (p.Gly1099=) c.*1114C>A (n.*1114C>A) c.4450C>A c.4026C>A (p.Gly1342=) c.5223C>A (p.Gly1741=) c.5220C>A (p.Gly1740=) c.5175C>A (p.Gly1725=) c.4299C>A (p.Gly1433=) c.4068C>A (p.Gly1356=) | |
10 | g.94298392C>G | CA470986398 | PLCE1 | c.4257C>G (p.Gly1419=) c.*1724C>G (n.*1724C>G) n.1916C>G n.600C>G c.*465C>G (n.*465C>G) c.4209C>G (p.Gly1403=) n.9389C>G n.2854C>G c.5049C>G (p.Gly1683=) c.5133C>G (p.Gly1711=) c.5181C>G (p.Gly1727=) c.4155C>G (p.Gly1385=) c.3736C>G c.3297C>G (p.Gly1099=) c.*1114C>G (n.*1114C>G) c.4450C>G c.4026C>G (p.Gly1342=) c.5223C>G (p.Gly1741=) c.5220C>G (p.Gly1740=) c.5175C>G (p.Gly1725=) c.4299C>G (p.Gly1433=) c.4068C>G (p.Gly1356=) | |
10 | g.94298392C>T | CA470986399 | PLCE1 | c.4257C>T (p.Gly1419=) c.*1724C>T (n.*1724C>T) n.1916C>T n.600C>T c.*465C>T (n.*465C>T) c.4209C>T (p.Gly1403=) n.9389C>T n.2854C>T c.5049C>T (p.Gly1683=) c.5133C>T (p.Gly1711=) c.5181C>T (p.Gly1727=) c.4155C>T (p.Gly1385=) c.3736C>T c.3297C>T (p.Gly1099=) c.*1114C>T (n.*1114C>T) c.4450C>T c.4026C>T (p.Gly1342=) c.5223C>T (p.Gly1741=) c.5220C>T (p.Gly1740=) c.5175C>T (p.Gly1725=) c.4299C>T (p.Gly1433=) c.4068C>T (p.Gly1356=) | gnomAD v4 |
10 | g.94298393A>C | CA377641681 | PLCE1 | c.4258A>C (p.Ile1420Leu) c.*1725A>C (n.*1725A>C) n.1917A>C n.601A>C c.*466A>C (n.*466A>C) c.4210A>C (p.Ile1404Leu) n.9390A>C n.2855A>C c.5050A>C (p.Ile1684Leu) c.5134A>C (p.Ile1712Leu) c.5182A>C (p.Ile1728Leu) c.4156A>C (p.Ile1386Leu) c.3737A>C c.3298A>C (p.Ile1100Leu) c.*1115A>C (n.*1115A>C) c.4451A>C c.4027A>C (p.Ile1343Leu) c.5224A>C (p.Ile1742Leu) c.5221A>C (p.Ile1741Leu) c.5176A>C (p.Ile1726Leu) c.4300A>C (p.Ile1434Leu) c.4069A>C (p.Ile1357Leu) | |
10 | g.94298393A>G | CA377641682 | PLCE1 | c.4258A>G (p.Ile1420Val) c.*1725A>G (n.*1725A>G) n.1917A>G n.601A>G c.*466A>G (n.*466A>G) c.4210A>G (p.Ile1404Val) n.9390A>G n.2855A>G c.5050A>G (p.Ile1684Val) c.5134A>G (p.Ile1712Val) c.5182A>G (p.Ile1728Val) c.4156A>G (p.Ile1386Val) c.3737A>G c.3298A>G (p.Ile1100Val) c.*1115A>G (n.*1115A>G) c.4451A>G c.4027A>G (p.Ile1343Val) c.5224A>G (p.Ile1742Val) c.5221A>G (p.Ile1741Val) c.5176A>G (p.Ile1726Val) c.4300A>G (p.Ile1434Val) c.4069A>G (p.Ile1357Val) | gnomAD v4 |
10 | g.94298393A>T | CA377641683 | PLCE1 | c.4258A>T (p.Ile1420Phe) c.*1725A>T (n.*1725A>T) n.1917A>T n.601A>T c.*466A>T (n.*466A>T) c.4210A>T (p.Ile1404Phe) n.9390A>T n.2855A>T c.5050A>T (p.Ile1684Phe) c.5134A>T (p.Ile1712Phe) c.5182A>T (p.Ile1728Phe) c.4156A>T (p.Ile1386Phe) c.3737A>T c.3298A>T (p.Ile1100Phe) c.*1115A>T (n.*1115A>T) c.4451A>T c.4027A>T (p.Ile1343Phe) c.5224A>T (p.Ile1742Phe) c.5221A>T (p.Ile1741Phe) c.5176A>T (p.Ile1726Phe) c.4300A>T (p.Ile1434Phe) c.4069A>T (p.Ile1357Phe) | |
10 | g.94298394T>A | CA377641684 | PLCE1 | c.4259T>A (p.Ile1420Asn) c.*1726T>A (n.*1726T>A) n.1918T>A n.602T>A c.*467T>A (n.*467T>A) c.4211T>A (p.Ile1404Asn) n.9391T>A n.2856T>A c.5051T>A (p.Ile1684Asn) c.5135T>A (p.Ile1712Asn) c.5183T>A (p.Ile1728Asn) c.4157T>A (p.Ile1386Asn) c.3738T>A c.3299T>A (p.Ile1100Asn) c.*1116T>A (n.*1116T>A) c.4452T>A c.4028T>A (p.Ile1343Asn) c.5225T>A (p.Ile1742Asn) c.5222T>A (p.Ile1741Asn) c.5177T>A (p.Ile1726Asn) c.4301T>A (p.Ile1434Asn) c.4070T>A (p.Ile1357Asn) | |
10 | g.94298394T>C | CA377641686 | PLCE1 | c.4259T>C (p.Ile1420Thr) c.*1726T>C (n.*1726T>C) n.1918T>C n.602T>C c.*467T>C (n.*467T>C) c.4211T>C (p.Ile1404Thr) n.9391T>C n.2856T>C c.5051T>C (p.Ile1684Thr) c.5135T>C (p.Ile1712Thr) c.5183T>C (p.Ile1728Thr) c.4157T>C (p.Ile1386Thr) c.3738T>C c.3299T>C (p.Ile1100Thr) c.*1116T>C (n.*1116T>C) c.4452T>C c.4028T>C (p.Ile1343Thr) c.5225T>C (p.Ile1742Thr) c.5222T>C (p.Ile1741Thr) c.5177T>C (p.Ile1726Thr) c.4301T>C (p.Ile1434Thr) c.4070T>C (p.Ile1357Thr) | |
10 | g.94298394T>G | CA377641685 | PLCE1 | c.4259T>G (p.Ile1420Ser) c.*1726T>G (n.*1726T>G) n.1918T>G n.602T>G c.*467T>G (n.*467T>G) c.4211T>G (p.Ile1404Ser) n.9391T>G n.2856T>G c.5051T>G (p.Ile1684Ser) c.5135T>G (p.Ile1712Ser) c.5183T>G (p.Ile1728Ser) c.4157T>G (p.Ile1386Ser) c.3738T>G c.3299T>G (p.Ile1100Ser) c.*1116T>G (n.*1116T>G) c.4452T>G c.4028T>G (p.Ile1343Ser) c.5225T>G (p.Ile1742Ser) c.5222T>G (p.Ile1741Ser) c.5177T>G (p.Ile1726Ser) c.4301T>G (p.Ile1434Ser) c.4070T>G (p.Ile1357Ser) | |
10 | g.94298395T>A | CA470986401 | PLCE1 | c.4260T>A (p.Ile1420=) c.*1727T>A (n.*1727T>A) n.1919T>A n.603T>A c.*468T>A (n.*468T>A) c.4212T>A (p.Ile1404=) n.9392T>A n.2857T>A c.5052T>A (p.Ile1684=) c.5136T>A (p.Ile1712=) c.5184T>A (p.Ile1728=) c.4158T>A (p.Ile1386=) c.3739T>A c.3300T>A (p.Ile1100=) c.*1117T>A (n.*1117T>A) c.4453T>A c.4029T>A (p.Ile1343=) c.5226T>A (p.Ile1742=) c.5223T>A (p.Ile1741=) c.5178T>A (p.Ile1726=) c.4302T>A (p.Ile1434=) c.4071T>A (p.Ile1357=) | |
10 | g.94298395T>C | CA470986402 | PLCE1 | c.4260T>C (p.Ile1420=) c.*1727T>C (n.*1727T>C) n.1919T>C n.603T>C c.*468T>C (n.*468T>C) c.4212T>C (p.Ile1404=) n.9392T>C n.2857T>C c.5052T>C (p.Ile1684=) c.5136T>C (p.Ile1712=) c.5184T>C (p.Ile1728=) c.4158T>C (p.Ile1386=) c.3739T>C c.3300T>C (p.Ile1100=) c.*1117T>C (n.*1117T>C) c.4453T>C c.4029T>C (p.Ile1343=) c.5226T>C (p.Ile1742=) c.5223T>C (p.Ile1741=) c.5178T>C (p.Ile1726=) c.4302T>C (p.Ile1434=) c.4071T>C (p.Ile1357=) | |
10 | g.94298395T>G | CA377641687 | PLCE1 | c.4260T>G (p.Ile1420Met) c.*1727T>G (n.*1727T>G) n.1919T>G n.603T>G c.*468T>G (n.*468T>G) c.4212T>G (p.Ile1404Met) n.9392T>G n.2857T>G c.5052T>G (p.Ile1684Met) c.5136T>G (p.Ile1712Met) c.5184T>G (p.Ile1728Met) c.4158T>G (p.Ile1386Met) c.3739T>G c.3300T>G (p.Ile1100Met) c.*1117T>G (n.*1117T>G) c.4453T>G c.4029T>G (p.Ile1343Met) c.5226T>G (p.Ile1742Met) c.5223T>G (p.Ile1741Met) c.5178T>G (p.Ile1726Met) c.4302T>G (p.Ile1434Met) c.4071T>G (p.Ile1357Met) | |
10 | g.94298396C>A | CA470986403 | PLCE1 | c.4261C>A (p.Arg1421=) c.*1728C>A (n.*1728C>A) n.1920C>A n.604C>A c.*469C>A (n.*469C>A) c.4213C>A (p.Arg1405=) n.9393C>A n.2858C>A c.5053C>A (p.Arg1685=) c.5137C>A (p.Arg1713=) c.5185C>A (p.Arg1729=) c.4159C>A (p.Arg1387=) c.3740C>A c.3301C>A (p.Arg1101=) c.*1118C>A (n.*1118C>A) c.4454C>A c.4030C>A (p.Arg1344=) c.5227C>A (p.Arg1743=) c.5224C>A (p.Arg1742=) c.5179C>A (p.Arg1727=) c.4303C>A (p.Arg1435=) c.4072C>A (p.Arg1358=) | |
10 | g.94298396C= | CA1928998371 | PLCE1 | c.4261C= (p.Arg1421=) c.*1728C= (n.*1728C=) n.1920C= n.604C= c.*469C= (n.*469C=) c.4213C= (p.Arg1405=) n.9393C= n.2858C= c.5053C= (p.Arg1685=) c.5137C= (p.Arg1713=) c.5185C= (p.Arg1729=) c.4159C= (p.Arg1387=) c.3740C= c.3301C= (p.Arg1101=) c.*1118C= (n.*1118C=) c.4454C= c.4030C= (p.Arg1344=) c.5227C= (p.Arg1743=) c.5224C= (p.Arg1742=) c.5179C= (p.Arg1727=) c.4303C= (p.Arg1435=) c.4072C= (p.Arg1358=) | |
10 | g.94298396C>G | CA377641688 | PLCE1 | c.4261C>G (p.Arg1421Gly) c.*1728C>G (n.*1728C>G) n.1920C>G n.604C>G c.*469C>G (n.*469C>G) c.4213C>G (p.Arg1405Gly) n.9393C>G n.2858C>G c.5053C>G (p.Arg1685Gly) c.5137C>G (p.Arg1713Gly) c.5185C>G (p.Arg1729Gly) c.4159C>G (p.Arg1387Gly) c.3740C>G c.3301C>G (p.Arg1101Gly) c.*1118C>G (n.*1118C>G) c.4454C>G c.4030C>G (p.Arg1344Gly) c.5227C>G (p.Arg1743Gly) c.5224C>G (p.Arg1742Gly) c.5179C>G (p.Arg1727Gly) c.4303C>G (p.Arg1435Gly) c.4072C>G (p.Arg1358Gly) | |
10 | g.94298396C>T | CA5613313 | PLCE1 | c.4261C>T (p.Arg1421Ter) c.*1728C>T (n.*1728C>T) n.1920C>T n.604C>T c.*469C>T (n.*469C>T) c.4213C>T (p.Arg1405Ter) n.9393C>T n.2858C>T c.5053C>T (p.Arg1685Ter) c.5137C>T (p.Arg1713Ter) c.5185C>T (p.Arg1729Ter) c.4159C>T (p.Arg1387Ter) c.3740C>T c.3301C>T (p.Arg1101Ter) c.*1118C>T (n.*1118C>T) c.4454C>T c.4030C>T (p.Arg1344Ter) c.5227C>T (p.Arg1743Ter) c.5224C>T (p.Arg1742Ter) c.5179C>T (p.Arg1727Ter) c.4303C>T (p.Arg1435Ter) c.4072C>T (p.Arg1358Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298397G>A | CA5613314 | PLCE1 | c.4262G>A (p.Arg1421Gln) c.*1729G>A (n.*1729G>A) n.1921G>A n.605G>A c.*470G>A (n.*470G>A) c.4214G>A (p.Arg1405Gln) n.9394G>A n.2859G>A c.5054G>A (p.Arg1685Gln) c.5138G>A (p.Arg1713Gln) c.5186G>A (p.Arg1729Gln) c.4160G>A (p.Arg1387Gln) c.3741G>A c.3302G>A (p.Arg1101Gln) c.*1119G>A (n.*1119G>A) c.4455G>A c.4031G>A (p.Arg1344Gln) c.5228G>A (p.Arg1743Gln) c.5225G>A (p.Arg1742Gln) c.5180G>A (p.Arg1727Gln) c.4304G>A (p.Arg1435Gln) c.4073G>A (p.Arg1358Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.94298397G>C | CA377641689 | PLCE1 | c.4262G>C (p.Arg1421Pro) c.*1729G>C (n.*1729G>C) n.1921G>C n.605G>C c.*470G>C (n.*470G>C) c.4214G>C (p.Arg1405Pro) n.9394G>C n.2859G>C c.5054G>C (p.Arg1685Pro) c.5138G>C (p.Arg1713Pro) c.5186G>C (p.Arg1729Pro) c.4160G>C (p.Arg1387Pro) c.3741G>C c.3302G>C (p.Arg1101Pro) c.*1119G>C (n.*1119G>C) c.4455G>C c.4031G>C (p.Arg1344Pro) c.5228G>C (p.Arg1743Pro) c.5225G>C (p.Arg1742Pro) c.5180G>C (p.Arg1727Pro) c.4304G>C (p.Arg1435Pro) c.4073G>C (p.Arg1358Pro) | |
10 | g.94298397G= | CA1928998372 | PLCE1 | c.4262G= (p.Arg1421=) c.*1729G= (n.*1729G=) n.1921G= n.605G= c.*470G= (n.*470G=) c.4214G= (p.Arg1405=) n.9394G= n.2859G= c.5054G= (p.Arg1685=) c.5138G= (p.Arg1713=) c.5186G= (p.Arg1729=) c.4160G= (p.Arg1387=) c.3741G= c.3302G= (p.Arg1101=) c.*1119G= (n.*1119G=) c.4455G= c.4031G= (p.Arg1344=) c.5228G= (p.Arg1743=) c.5225G= (p.Arg1742=) c.5180G= (p.Arg1727=) c.4304G= (p.Arg1435=) c.4073G= (p.Arg1358=) | |
10 | g.94298397G>T | CA377641690 | PLCE1 | c.4262G>T (p.Arg1421Leu) c.*1729G>T (n.*1729G>T) n.1921G>T n.605G>T c.*470G>T (n.*470G>T) c.4214G>T (p.Arg1405Leu) n.9394G>T n.2859G>T c.5054G>T (p.Arg1685Leu) c.5138G>T (p.Arg1713Leu) c.5186G>T (p.Arg1729Leu) c.4160G>T (p.Arg1387Leu) c.3741G>T c.3302G>T (p.Arg1101Leu) c.*1119G>T (n.*1119G>T) c.4455G>T c.4031G>T (p.Arg1344Leu) c.5228G>T (p.Arg1743Leu) c.5225G>T (p.Arg1742Leu) c.5180G>T (p.Arg1727Leu) c.4304G>T (p.Arg1435Leu) c.4073G>T (p.Arg1358Leu) | |
10 | g.94298398A>C | CA470986406 | PLCE1 | c.4263A>C (p.Arg1421=) c.*1730A>C (n.*1730A>C) n.1922A>C n.606A>C c.*471A>C (n.*471A>C) c.4215A>C (p.Arg1405=) n.9395A>C n.2860A>C c.5055A>C (p.Arg1685=) c.5139A>C (p.Arg1713=) c.5187A>C (p.Arg1729=) c.4161A>C (p.Arg1387=) c.3742A>C c.3303A>C (p.Arg1101=) c.*1120A>C (n.*1120A>C) c.4456A>C c.4032A>C (p.Arg1344=) c.5229A>C (p.Arg1743=) c.5226A>C (p.Arg1742=) c.5181A>C (p.Arg1727=) c.4305A>C (p.Arg1435=) c.4074A>C (p.Arg1358=) | |
10 | g.94298398A>G | CA470986407 | PLCE1 | c.4263A>G (p.Arg1421=) c.*1730A>G (n.*1730A>G) n.1922A>G n.606A>G c.*471A>G (n.*471A>G) c.4215A>G (p.Arg1405=) n.9395A>G n.2860A>G c.5055A>G (p.Arg1685=) c.5139A>G (p.Arg1713=) c.5187A>G (p.Arg1729=) c.4161A>G (p.Arg1387=) c.3742A>G c.3303A>G (p.Arg1101=) c.*1120A>G (n.*1120A>G) c.4456A>G c.4032A>G (p.Arg1344=) c.5229A>G (p.Arg1743=) c.5226A>G (p.Arg1742=) c.5181A>G (p.Arg1727=) c.4305A>G (p.Arg1435=) c.4074A>G (p.Arg1358=) | gnomAD v4 |
10 | g.94298398A>T | CA470986404 | PLCE1 | c.4263A>T (p.Arg1421=) c.*1730A>T (n.*1730A>T) n.1922A>T n.606A>T c.*471A>T (n.*471A>T) c.4215A>T (p.Arg1405=) n.9395A>T n.2860A>T c.5055A>T (p.Arg1685=) c.5139A>T (p.Arg1713=) c.5187A>T (p.Arg1729=) c.4161A>T (p.Arg1387=) c.3742A>T c.3303A>T (p.Arg1101=) c.*1120A>T (n.*1120A>T) c.4456A>T c.4032A>T (p.Arg1344=) c.5229A>T (p.Arg1743=) c.5226A>T (p.Arg1742=) c.5181A>T (p.Arg1727=) c.4305A>T (p.Arg1435=) c.4074A>T (p.Arg1358=) | |
10 | g.94298399C>A | CA377641691 | PLCE1 | c.4264C>A (p.Gln1422Lys) c.*1731C>A (n.*1731C>A) n.1923C>A n.607C>A c.*472C>A (n.*472C>A) c.4216C>A (p.Gln1406Lys) n.9396C>A n.2861C>A c.5056C>A (p.Gln1686Lys) c.5140C>A (p.Gln1714Lys) c.5188C>A (p.Gln1730Lys) c.4162C>A (p.Gln1388Lys) c.3743C>A c.3304C>A (p.Gln1102Lys) c.*1121C>A (n.*1121C>A) c.4457C>A c.4033C>A (p.Gln1345Lys) c.5230C>A (p.Gln1744Lys) c.5227C>A (p.Gln1743Lys) c.5182C>A (p.Gln1728Lys) c.4306C>A (p.Gln1436Lys) c.4075C>A (p.Gln1359Lys) | |
10 | g.94298399C= | CA1928998373 | PLCE1 | c.4264C= (p.Gln1422=) c.*1731C= (n.*1731C=) n.1923C= n.607C= c.*472C= (n.*472C=) c.4216C= (p.Gln1406=) n.9396C= n.2861C= c.5056C= (p.Gln1686=) c.5140C= (p.Gln1714=) c.5188C= (p.Gln1730=) c.4162C= (p.Gln1388=) c.3743C= c.3304C= (p.Gln1102=) c.*1121C= (n.*1121C=) c.4457C= c.4033C= (p.Gln1345=) c.5230C= (p.Gln1744=) c.5227C= (p.Gln1743=) c.5182C= (p.Gln1728=) c.4306C= (p.Gln1436=) c.4075C= (p.Gln1359=) | |
10 | g.94298399C>G | CA211599558 | PLCE1 | c.4264C>G (p.Gln1422Glu) c.*1731C>G (n.*1731C>G) n.1923C>G n.607C>G c.*472C>G (n.*472C>G) c.4216C>G (p.Gln1406Glu) n.9396C>G n.2861C>G c.5056C>G (p.Gln1686Glu) c.5140C>G (p.Gln1714Glu) c.5188C>G (p.Gln1730Glu) c.4162C>G (p.Gln1388Glu) c.3743C>G c.3304C>G (p.Gln1102Glu) c.*1121C>G (n.*1121C>G) c.4457C>G c.4033C>G (p.Gln1345Glu) c.5230C>G (p.Gln1744Glu) c.5227C>G (p.Gln1743Glu) c.5182C>G (p.Gln1728Glu) c.4306C>G (p.Gln1436Glu) c.4075C>G (p.Gln1359Glu) | dbSNP |
10 | g.94298399C>T | CA377641692 | PLCE1 | c.4264C>T (p.Gln1422Ter) c.*1731C>T (n.*1731C>T) n.1923C>T n.607C>T c.*472C>T (n.*472C>T) c.4216C>T (p.Gln1406Ter) n.9396C>T n.2861C>T c.5056C>T (p.Gln1686Ter) c.5140C>T (p.Gln1714Ter) c.5188C>T (p.Gln1730Ter) c.4162C>T (p.Gln1388Ter) c.3743C>T c.3304C>T (p.Gln1102Ter) c.*1121C>T (n.*1121C>T) c.4457C>T c.4033C>T (p.Gln1345Ter) c.5230C>T (p.Gln1744Ter) c.5227C>T (p.Gln1743Ter) c.5182C>T (p.Gln1728Ter) c.4306C>T (p.Gln1436Ter) c.4075C>T (p.Gln1359Ter) | |
10 | g.94298400A>C | CA377641693 | PLCE1 | c.4265A>C (p.Gln1422Pro) c.*1732A>C (n.*1732A>C) n.1924A>C n.608A>C c.*473A>C (n.*473A>C) c.4217A>C (p.Gln1406Pro) n.9397A>C n.2862A>C c.5057A>C (p.Gln1686Pro) c.5141A>C (p.Gln1714Pro) c.5189A>C (p.Gln1730Pro) c.4163A>C (p.Gln1388Pro) c.3744A>C c.3305A>C (p.Gln1102Pro) c.*1122A>C (n.*1122A>C) c.4458A>C c.4034A>C (p.Gln1345Pro) c.5231A>C (p.Gln1744Pro) c.5228A>C (p.Gln1743Pro) c.5183A>C (p.Gln1728Pro) c.4307A>C (p.Gln1436Pro) c.4076A>C (p.Gln1359Pro) | |
10 | g.94298400A>G | CA377641694 | PLCE1 | c.4265A>G (p.Gln1422Arg) c.*1732A>G (n.*1732A>G) n.1924A>G n.608A>G c.*473A>G (n.*473A>G) c.4217A>G (p.Gln1406Arg) n.9397A>G n.2862A>G c.5057A>G (p.Gln1686Arg) c.5141A>G (p.Gln1714Arg) c.5189A>G (p.Gln1730Arg) c.4163A>G (p.Gln1388Arg) c.3744A>G c.3305A>G (p.Gln1102Arg) c.*1122A>G (n.*1122A>G) c.4458A>G c.4034A>G (p.Gln1345Arg) c.5231A>G (p.Gln1744Arg) c.5228A>G (p.Gln1743Arg) c.5183A>G (p.Gln1728Arg) c.4307A>G (p.Gln1436Arg) c.4076A>G (p.Gln1359Arg) | |
10 | g.94298400A>T | CA377641695 | PLCE1 | c.4265A>T (p.Gln1422Leu) c.*1732A>T (n.*1732A>T) n.1924A>T n.608A>T c.*473A>T (n.*473A>T) c.4217A>T (p.Gln1406Leu) n.9397A>T n.2862A>T c.5057A>T (p.Gln1686Leu) c.5141A>T (p.Gln1714Leu) c.5189A>T (p.Gln1730Leu) c.4163A>T (p.Gln1388Leu) c.3744A>T c.3305A>T (p.Gln1102Leu) c.*1122A>T (n.*1122A>T) c.4458A>T c.4034A>T (p.Gln1345Leu) c.5231A>T (p.Gln1744Leu) c.5228A>T (p.Gln1743Leu) c.5183A>T (p.Gln1728Leu) c.4307A>T (p.Gln1436Leu) c.4076A>T (p.Gln1359Leu) | |
10 | g.94298401G>A | CA470986409 | PLCE1 | c.4266G>A (p.Gln1422=) c.*1733G>A (n.*1733G>A) n.1925G>A n.609G>A c.*474G>A (n.*474G>A) c.4218G>A (p.Gln1406=) n.9398G>A n.2863G>A c.5058G>A (p.Gln1686=) c.5142G>A (p.Gln1714=) c.5190G>A (p.Gln1730=) c.4164G>A (p.Gln1388=) c.3745G>A c.3306G>A (p.Gln1102=) c.*1123G>A (n.*1123G>A) c.4459G>A c.4035G>A (p.Gln1345=) c.5232G>A (p.Gln1744=) c.5229G>A (p.Gln1743=) c.5184G>A (p.Gln1728=) c.4308G>A (p.Gln1436=) c.4077G>A (p.Gln1359=) | |
10 | g.94298401G>C | CA377641697 | PLCE1 | c.4266G>C (p.Gln1422His) c.*1733G>C (n.*1733G>C) n.1925G>C n.609G>C c.*474G>C (n.*474G>C) c.4218G>C (p.Gln1406His) n.9398G>C n.2863G>C c.5058G>C (p.Gln1686His) c.5142G>C (p.Gln1714His) c.5190G>C (p.Gln1730His) c.4164G>C (p.Gln1388His) c.3745G>C c.3306G>C (p.Gln1102His) c.*1123G>C (n.*1123G>C) c.4459G>C c.4035G>C (p.Gln1345His) c.5232G>C (p.Gln1744His) c.5229G>C (p.Gln1743His) c.5184G>C (p.Gln1728His) c.4308G>C (p.Gln1436His) c.4077G>C (p.Gln1359His) | |
10 | g.94298401G>T | CA377641696 | PLCE1 | c.4266G>T (p.Gln1422His) c.*1733G>T (n.*1733G>T) n.1925G>T n.609G>T c.*474G>T (n.*474G>T) c.4218G>T (p.Gln1406His) n.9398G>T n.2863G>T c.5058G>T (p.Gln1686His) c.5142G>T (p.Gln1714His) c.5190G>T (p.Gln1730His) c.4164G>T (p.Gln1388His) c.3745G>T c.3306G>T (p.Gln1102His) c.*1123G>T (n.*1123G>T) c.4459G>T c.4035G>T (p.Gln1345His) c.5232G>T (p.Gln1744His) c.5229G>T (p.Gln1743His) c.5184G>T (p.Gln1728His) c.4308G>T (p.Gln1436His) c.4077G>T (p.Gln1359His) | |
10 | g.94298402A>C | CA377641698 | PLCE1 | c.4267A>C (p.Thr1423Pro) c.*1734A>C (n.*1734A>C) n.1926A>C n.610A>C c.*475A>C (n.*475A>C) c.4219A>C (p.Thr1407Pro) n.9399A>C n.2864A>C c.5059A>C (p.Thr1687Pro) c.5143A>C (p.Thr1715Pro) c.5191A>C (p.Thr1731Pro) c.4165A>C (p.Thr1389Pro) c.3746A>C c.3307A>C (p.Thr1103Pro) c.*1124A>C (n.*1124A>C) c.4460A>C c.4036A>C (p.Thr1346Pro) c.5233A>C (p.Thr1745Pro) c.5230A>C (p.Thr1744Pro) c.5185A>C (p.Thr1729Pro) c.4309A>C (p.Thr1437Pro) c.4078A>C (p.Thr1360Pro) | |
10 | g.94298402A>G | CA377641699 | PLCE1 | c.4267A>G (p.Thr1423Ala) c.*1734A>G (n.*1734A>G) n.1926A>G n.610A>G c.*475A>G (n.*475A>G) c.4219A>G (p.Thr1407Ala) n.9399A>G n.2864A>G c.5059A>G (p.Thr1687Ala) c.5143A>G (p.Thr1715Ala) c.5191A>G (p.Thr1731Ala) c.4165A>G (p.Thr1389Ala) c.3746A>G c.3307A>G (p.Thr1103Ala) c.*1124A>G (n.*1124A>G) c.4460A>G c.4036A>G (p.Thr1346Ala) c.5233A>G (p.Thr1745Ala) c.5230A>G (p.Thr1744Ala) c.5185A>G (p.Thr1729Ala) c.4309A>G (p.Thr1437Ala) c.4078A>G (p.Thr1360Ala) | |
10 | g.94298402A>T | CA377641700 | PLCE1 | c.4267A>T (p.Thr1423Ser) c.*1734A>T (n.*1734A>T) n.1926A>T n.610A>T c.*475A>T (n.*475A>T) c.4219A>T (p.Thr1407Ser) n.9399A>T n.2864A>T c.5059A>T (p.Thr1687Ser) c.5143A>T (p.Thr1715Ser) c.5191A>T (p.Thr1731Ser) c.4165A>T (p.Thr1389Ser) c.3746A>T c.3307A>T (p.Thr1103Ser) c.*1124A>T (n.*1124A>T) c.4460A>T c.4036A>T (p.Thr1346Ser) c.5233A>T (p.Thr1745Ser) c.5230A>T (p.Thr1744Ser) c.5185A>T (p.Thr1729Ser) c.4309A>T (p.Thr1437Ser) c.4078A>T (p.Thr1360Ser) | |
10 | g.94298403C>A | CA377641701 | PLCE1 | c.4268C>A (p.Thr1423Asn) c.*1735C>A (n.*1735C>A) n.1927C>A n.611C>A c.*476C>A (n.*476C>A) c.4220C>A (p.Thr1407Asn) n.9400C>A n.2865C>A c.5060C>A (p.Thr1687Asn) c.5144C>A (p.Thr1715Asn) c.5192C>A (p.Thr1731Asn) c.4166C>A (p.Thr1389Asn) c.3747C>A c.3308C>A (p.Thr1103Asn) c.*1125C>A (n.*1125C>A) c.4461C>A c.4037C>A (p.Thr1346Asn) c.5234C>A (p.Thr1745Asn) c.5231C>A (p.Thr1744Asn) c.5186C>A (p.Thr1729Asn) c.4310C>A (p.Thr1437Asn) c.4079C>A (p.Thr1360Asn) | gnomAD v4 |
10 | g.94298403C= | CA1928998374 | PLCE1 | c.4268C= (p.Thr1423=) c.*1735C= (n.*1735C=) n.1927C= n.611C= c.*476C= (n.*476C=) c.4220C= (p.Thr1407=) n.9400C= n.2865C= c.5060C= (p.Thr1687=) c.5144C= (p.Thr1715=) c.5192C= (p.Thr1731=) c.4166C= (p.Thr1389=) c.3747C= c.3308C= (p.Thr1103=) c.*1125C= (n.*1125C=) c.4461C= c.4037C= (p.Thr1346=) c.5234C= (p.Thr1745=) c.5231C= (p.Thr1744=) c.5186C= (p.Thr1729=) c.4310C= (p.Thr1437=) c.4079C= (p.Thr1360=) | |
10 | g.94298403C>G | CA377641702 | PLCE1 | c.4268C>G (p.Thr1423Ser) c.*1735C>G (n.*1735C>G) n.1927C>G n.611C>G c.*476C>G (n.*476C>G) c.4220C>G (p.Thr1407Ser) n.9400C>G n.2865C>G c.5060C>G (p.Thr1687Ser) c.5144C>G (p.Thr1715Ser) c.5192C>G (p.Thr1731Ser) c.4166C>G (p.Thr1389Ser) c.3747C>G c.3308C>G (p.Thr1103Ser) c.*1125C>G (n.*1125C>G) c.4461C>G c.4037C>G (p.Thr1346Ser) c.5234C>G (p.Thr1745Ser) c.5231C>G (p.Thr1744Ser) c.5186C>G (p.Thr1729Ser) c.4310C>G (p.Thr1437Ser) c.4079C>G (p.Thr1360Ser) | |
10 | g.94298403C>T | CA377641703 | PLCE1 | c.4268C>T (p.Thr1423Ile) c.*1735C>T (n.*1735C>T) n.1927C>T n.611C>T c.*476C>T (n.*476C>T) c.4220C>T (p.Thr1407Ile) n.9400C>T n.2865C>T c.5060C>T (p.Thr1687Ile) c.5144C>T (p.Thr1715Ile) c.5192C>T (p.Thr1731Ile) c.4166C>T (p.Thr1389Ile) c.3747C>T c.3308C>T (p.Thr1103Ile) c.*1125C>T (n.*1125C>T) c.4461C>T c.4037C>T (p.Thr1346Ile) c.5234C>T (p.Thr1745Ile) c.5231C>T (p.Thr1744Ile) c.5186C>T (p.Thr1729Ile) c.4310C>T (p.Thr1437Ile) c.4079C>T (p.Thr1360Ile) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.94298404C>A | CA470986411 | PLCE1 | c.4269C>A (p.Thr1423=) c.*1736C>A (n.*1736C>A) n.1928C>A n.612C>A c.*477C>A (n.*477C>A) c.4221C>A (p.Thr1407=) n.9401C>A n.2866C>A c.5061C>A (p.Thr1687=) c.5145C>A (p.Thr1715=) c.5193C>A (p.Thr1731=) c.4167C>A (p.Thr1389=) c.3748C>A c.3309C>A (p.Thr1103=) c.*1126C>A (n.*1126C>A) c.4462C>A c.4038C>A (p.Thr1346=) c.5235C>A (p.Thr1745=) c.5232C>A (p.Thr1744=) c.5187C>A (p.Thr1729=) c.4311C>A (p.Thr1437=) c.4080C>A (p.Thr1360=) | |
10 | g.94298404C= | CA1928998375 | PLCE1 | c.4269C= (p.Thr1423=) c.*1736C= (n.*1736C=) n.1928C= n.612C= c.*477C= (n.*477C=) c.4221C= (p.Thr1407=) n.9401C= n.2866C= c.5061C= (p.Thr1687=) c.5145C= (p.Thr1715=) c.5193C= (p.Thr1731=) c.4167C= (p.Thr1389=) c.3748C= c.3309C= (p.Thr1103=) c.*1126C= (n.*1126C=) c.4462C= c.4038C= (p.Thr1346=) c.5235C= (p.Thr1745=) c.5232C= (p.Thr1744=) c.5187C= (p.Thr1729=) c.4311C= (p.Thr1437=) c.4080C= (p.Thr1360=) | |
10 | g.94298404C>G | CA470986413 | PLCE1 | c.4269C>G (p.Thr1423=) c.*1736C>G (n.*1736C>G) n.1928C>G n.612C>G c.*477C>G (n.*477C>G) c.4221C>G (p.Thr1407=) n.9401C>G n.2866C>G c.5061C>G (p.Thr1687=) c.5145C>G (p.Thr1715=) c.5193C>G (p.Thr1731=) c.4167C>G (p.Thr1389=) c.3748C>G c.3309C>G (p.Thr1103=) c.*1126C>G (n.*1126C>G) c.4462C>G c.4038C>G (p.Thr1346=) c.5235C>G (p.Thr1745=) c.5232C>G (p.Thr1744=) c.5187C>G (p.Thr1729=) c.4311C>G (p.Thr1437=) c.4080C>G (p.Thr1360=) | dbSNP gnomAD v2 |
10 | g.94298404C>T | CA470986412 | PLCE1 | c.4269C>T (p.Thr1423=) c.*1736C>T (n.*1736C>T) n.1928C>T n.612C>T c.*477C>T (n.*477C>T) c.4221C>T (p.Thr1407=) n.9401C>T n.2866C>T c.5061C>T (p.Thr1687=) c.5145C>T (p.Thr1715=) c.5193C>T (p.Thr1731=) c.4167C>T (p.Thr1389=) c.3748C>T c.3309C>T (p.Thr1103=) c.*1126C>T (n.*1126C>T) c.4462C>T c.4038C>T (p.Thr1346=) c.5235C>T (p.Thr1745=) c.5232C>T (p.Thr1744=) c.5187C>T (p.Thr1729=) c.4311C>T (p.Thr1437=) c.4080C>T (p.Thr1360=) | |
10 | g.94298405T>A | CA377641704 | PLCE1 | c.4270T>A (p.Trp1424Arg) c.*1737T>A (n.*1737T>A) n.1929T>A n.613T>A c.*478T>A (n.*478T>A) c.4222T>A (p.Trp1408Arg) n.9402T>A n.2867T>A c.5062T>A (p.Trp1688Arg) c.5146T>A (p.Trp1716Arg) c.5194T>A (p.Trp1732Arg) c.4168T>A (p.Trp1390Arg) c.3749T>A c.3310T>A (p.Trp1104Arg) c.*1127T>A (n.*1127T>A) c.4463T>A c.4039T>A (p.Trp1347Arg) c.5236T>A (p.Trp1746Arg) c.5233T>A (p.Trp1745Arg) c.5188T>A (p.Trp1730Arg) c.4312T>A (p.Trp1438Arg) c.4081T>A (p.Trp1361Arg) | |
10 | g.94298405T>C | CA5613315 | PLCE1 | c.4270T>C (p.Trp1424Arg) c.*1737T>C (n.*1737T>C) n.1929T>C n.613T>C c.*478T>C (n.*478T>C) c.4222T>C (p.Trp1408Arg) n.9402T>C n.2867T>C c.5062T>C (p.Trp1688Arg) c.5146T>C (p.Trp1716Arg) c.5194T>C (p.Trp1732Arg) c.4168T>C (p.Trp1390Arg) c.3749T>C c.3310T>C (p.Trp1104Arg) c.*1127T>C (n.*1127T>C) c.4463T>C c.4039T>C (p.Trp1347Arg) c.5236T>C (p.Trp1746Arg) c.5233T>C (p.Trp1745Arg) c.5188T>C (p.Trp1730Arg) c.4312T>C (p.Trp1438Arg) c.4081T>C (p.Trp1361Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.94298405T>G | CA377641705 | PLCE1 | c.4270T>G (p.Trp1424Gly) c.*1737T>G (n.*1737T>G) n.1929T>G n.613T>G c.*478T>G (n.*478T>G) c.4222T>G (p.Trp1408Gly) n.9402T>G n.2867T>G c.5062T>G (p.Trp1688Gly) c.5146T>G (p.Trp1716Gly) c.5194T>G (p.Trp1732Gly) c.4168T>G (p.Trp1390Gly) c.3749T>G c.3310T>G (p.Trp1104Gly) c.*1127T>G (n.*1127T>G) c.4463T>G c.4039T>G (p.Trp1347Gly) c.5236T>G (p.Trp1746Gly) c.5233T>G (p.Trp1745Gly) c.5188T>G (p.Trp1730Gly) c.4312T>G (p.Trp1438Gly) c.4081T>G (p.Trp1361Gly) | |
10 | g.94298405T= | CA1928998376 | PLCE1 | c.4270T= (p.Trp1424=) c.*1737T= (n.*1737T=) n.1929T= n.613T= c.*478T= (n.*478T=) c.4222T= (p.Trp1408=) n.9402T= n.2867T= c.5062T= (p.Trp1688=) c.5146T= (p.Trp1716=) c.5194T= (p.Trp1732=) c.4168T= (p.Trp1390=) c.3749T= c.3310T= (p.Trp1104=) c.*1127T= (n.*1127T=) c.4463T= c.4039T= (p.Trp1347=) c.5236T= (p.Trp1746=) c.5233T= (p.Trp1745=) c.5188T= (p.Trp1730=) c.4312T= (p.Trp1438=) c.4081T= (p.Trp1361=) | |
10 | g.94298406G>A | CA377641706 | PLCE1 | c.4271G>A (p.Trp1424Ter) c.*1738G>A (n.*1738G>A) n.1930G>A n.614G>A c.*479G>A (n.*479G>A) c.4223G>A (p.Trp1408Ter) n.9403G>A n.2868G>A c.5063G>A (p.Trp1688Ter) c.5147G>A (p.Trp1716Ter) c.5195G>A (p.Trp1732Ter) c.4169G>A (p.Trp1390Ter) c.3750G>A c.3311G>A (p.Trp1104Ter) c.*1128G>A (n.*1128G>A) c.4464G>A c.4040G>A (p.Trp1347Ter) c.5237G>A (p.Trp1746Ter) c.5234G>A (p.Trp1745Ter) c.5189G>A (p.Trp1730Ter) c.4313G>A (p.Trp1438Ter) c.4082G>A (p.Trp1361Ter) | |
10 | g.94298406G>C | CA377641707 | PLCE1 | c.4271G>C (p.Trp1424Ser) c.*1738G>C (n.*1738G>C) n.1930G>C n.614G>C c.*479G>C (n.*479G>C) c.4223G>C (p.Trp1408Ser) n.9403G>C n.2868G>C c.5063G>C (p.Trp1688Ser) c.5147G>C (p.Trp1716Ser) c.5195G>C (p.Trp1732Ser) c.4169G>C (p.Trp1390Ser) c.3750G>C c.3311G>C (p.Trp1104Ser) c.*1128G>C (n.*1128G>C) c.4464G>C c.4040G>C (p.Trp1347Ser) c.5237G>C (p.Trp1746Ser) c.5234G>C (p.Trp1745Ser) c.5189G>C (p.Trp1730Ser) c.4313G>C (p.Trp1438Ser) c.4082G>C (p.Trp1361Ser) |