| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94298388A>C | CA377641670 | PLCE1 | c.4253A>C (p.Glu1418Ala) c.*1720A>C (n.*1720A>C) n.1912A>C n.596A>C c.*461A>C (n.*461A>C) c.4205A>C (p.Glu1402Ala) n.9385A>C n.2850A>C c.5045A>C (p.Glu1682Ala) c.5129A>C (p.Glu1710Ala) c.5177A>C (p.Glu1726Ala) c.4151A>C (p.Glu1384Ala) c.3732A>C c.3293A>C (p.Glu1098Ala) c.*1110A>C (n.*1110A>C) c.4446A>C c.4022A>C (p.Glu1341Ala) c.5219A>C (p.Glu1740Ala) c.5216A>C (p.Glu1739Ala) c.5171A>C (p.Glu1724Ala) c.4295A>C (p.Glu1432Ala) c.4064A>C (p.Glu1355Ala) | |
| 10 | g.94298388A>G | CA377641672 | PLCE1 | c.4253A>G (p.Glu1418Gly) c.*1720A>G (n.*1720A>G) n.1912A>G n.596A>G c.*461A>G (n.*461A>G) c.4205A>G (p.Glu1402Gly) n.9385A>G n.2850A>G c.5045A>G (p.Glu1682Gly) c.5129A>G (p.Glu1710Gly) c.5177A>G (p.Glu1726Gly) c.4151A>G (p.Glu1384Gly) c.3732A>G c.3293A>G (p.Glu1098Gly) c.*1110A>G (n.*1110A>G) c.4446A>G c.4022A>G (p.Glu1341Gly) c.5219A>G (p.Glu1740Gly) c.5216A>G (p.Glu1739Gly) c.5171A>G (p.Glu1724Gly) c.4295A>G (p.Glu1432Gly) c.4064A>G (p.Glu1355Gly) | |
| 10 | g.94298388A>T | CA377641671 | PLCE1 | c.4253A>T (p.Glu1418Val) c.*1720A>T (n.*1720A>T) n.1912A>T n.596A>T c.*461A>T (n.*461A>T) c.4205A>T (p.Glu1402Val) n.9385A>T n.2850A>T c.5045A>T (p.Glu1682Val) c.5129A>T (p.Glu1710Val) c.5177A>T (p.Glu1726Val) c.4151A>T (p.Glu1384Val) c.3732A>T c.3293A>T (p.Glu1098Val) c.*1110A>T (n.*1110A>T) c.4446A>T c.4022A>T (p.Glu1341Val) c.5219A>T (p.Glu1740Val) c.5216A>T (p.Glu1739Val) c.5171A>T (p.Glu1724Val) c.4295A>T (p.Glu1432Val) c.4064A>T (p.Glu1355Val) | |
| 10 | g.94298389A= | CA1928998368 | PLCE1 | c.4254A= (p.Glu1418=) c.*1721A= (n.*1721A=) n.1913A= n.597A= c.*462A= (n.*462A=) c.4206A= (p.Glu1402=) n.9386A= n.2851A= c.5046A= (p.Glu1682=) c.5130A= (p.Glu1710=) c.5178A= (p.Glu1726=) c.4152A= (p.Glu1384=) c.3733A= c.3294A= (p.Glu1098=) c.*1111A= (n.*1111A=) c.4447A= c.4023A= (p.Glu1341=) c.5220A= (p.Glu1740=) c.5217A= (p.Glu1739=) c.5172A= (p.Glu1724=) c.4296A= (p.Glu1432=) c.4065A= (p.Glu1355=) | |
| 10 | g.94298389A>C | CA377641673 | PLCE1 | c.4254A>C (p.Glu1418Asp) c.*1721A>C (n.*1721A>C) n.1913A>C n.597A>C c.*462A>C (n.*462A>C) c.4206A>C (p.Glu1402Asp) n.9386A>C n.2851A>C c.5046A>C (p.Glu1682Asp) c.5130A>C (p.Glu1710Asp) c.5178A>C (p.Glu1726Asp) c.4152A>C (p.Glu1384Asp) c.3733A>C c.3294A>C (p.Glu1098Asp) c.*1111A>C (n.*1111A>C) c.4447A>C c.4023A>C (p.Glu1341Asp) c.5220A>C (p.Glu1740Asp) c.5217A>C (p.Glu1739Asp) c.5172A>C (p.Glu1724Asp) c.4296A>C (p.Glu1432Asp) c.4065A>C (p.Glu1355Asp) | |
| 10 | g.94298389A>G | CA470807920 | PLCE1 | c.4254A>G (p.Glu1418=) c.*1721A>G (n.*1721A>G) n.1913A>G n.597A>G c.*462A>G (n.*462A>G) c.4206A>G (p.Glu1402=) n.9386A>G n.2851A>G c.5046A>G (p.Glu1682=) c.5130A>G (p.Glu1710=) c.5178A>G (p.Glu1726=) c.4152A>G (p.Glu1384=) c.3733A>G c.3294A>G (p.Glu1098=) c.*1111A>G (n.*1111A>G) c.4447A>G c.4023A>G (p.Glu1341=) c.5220A>G (p.Glu1740=) c.5217A>G (p.Glu1739=) c.5172A>G (p.Glu1724=) c.4296A>G (p.Glu1432=) c.4065A>G (p.Glu1355=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.94298389A>T | CA377641674 | PLCE1 | c.4254A>T (p.Glu1418Asp) c.*1721A>T (n.*1721A>T) n.1913A>T n.597A>T c.*462A>T (n.*462A>T) c.4206A>T (p.Glu1402Asp) n.9386A>T n.2851A>T c.5046A>T (p.Glu1682Asp) c.5130A>T (p.Glu1710Asp) c.5178A>T (p.Glu1726Asp) c.4152A>T (p.Glu1384Asp) c.3733A>T c.3294A>T (p.Glu1098Asp) c.*1111A>T (n.*1111A>T) c.4447A>T c.4023A>T (p.Glu1341Asp) c.5220A>T (p.Glu1740Asp) c.5217A>T (p.Glu1739Asp) c.5172A>T (p.Glu1724Asp) c.4296A>T (p.Glu1432Asp) c.4065A>T (p.Glu1355Asp) | |
| 10 | g.94298389_94298390insCA | CA645550158 | PLCE1 | c.4254_4255insCA (p.Gly1419GlnfsTer?) c.*1721_*1722insCA (n.*1721_*1722insCA) n.1913_1914insCA n.597_598insCA c.*462_*463insCA (n.*462_*463insCA) c.4206_4207insCA (p.Gly1403GlnfsTer?) n.9386_9387insCA n.2851_2852insCA c.5046_5047insCA (p.Gly1683GlnfsTer?) c.5130_5131insCA (p.Gly1711GlnfsTer?) c.5178_5179insCA (p.Gly1727GlnfsTer?) c.4152_4153insCA (p.Gly1385GlnfsTer?) c.3733_3734insCA c.3294_3295insCA (p.Gly1099GlnfsTer?) c.*1111_*1112insCA (n.*1111_*1112insCA) c.4447_4448insCA c.4023_4024insCA (p.Gly1342GlnfsTer?) c.5220_5221insCA (p.Gly1741GlnfsTer?) c.5217_5218insCA (p.Gly1740GlnfsTer?) c.5172_5173insCA (p.Gly1725GlnfsTer?) c.4296_4297insCA (p.Gly1433GlnfsTer?) c.4065_4066insCA (p.Gly1356GlnfsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 10 | g.94298390G>A | CA377641675 | PLCE1 | c.4255G>A (p.Gly1419Ser) c.*1722G>A (n.*1722G>A) n.1914G>A n.598G>A c.*463G>A (n.*463G>A) c.4207G>A (p.Gly1403Ser) n.9387G>A n.2852G>A c.5047G>A (p.Gly1683Ser) c.5131G>A (p.Gly1711Ser) c.5179G>A (p.Gly1727Ser) c.4153G>A (p.Gly1385Ser) c.3734G>A c.3295G>A (p.Gly1099Ser) c.*1112G>A (n.*1112G>A) c.4448G>A c.4024G>A (p.Gly1342Ser) c.5221G>A (p.Gly1741Ser) c.5218G>A (p.Gly1740Ser) c.5173G>A (p.Gly1725Ser) c.4297G>A (p.Gly1433Ser) c.4066G>A (p.Gly1356Ser) | dbSNP gnomAD v4 |
| 10 | g.94298390G>C | CA377641676 | PLCE1 | c.4255G>C (p.Gly1419Arg) c.*1722G>C (n.*1722G>C) n.1914G>C n.598G>C c.*463G>C (n.*463G>C) c.4207G>C (p.Gly1403Arg) n.9387G>C n.2852G>C c.5047G>C (p.Gly1683Arg) c.5131G>C (p.Gly1711Arg) c.5179G>C (p.Gly1727Arg) c.4153G>C (p.Gly1385Arg) c.3734G>C c.3295G>C (p.Gly1099Arg) c.*1112G>C (n.*1112G>C) c.4448G>C c.4024G>C (p.Gly1342Arg) c.5221G>C (p.Gly1741Arg) c.5218G>C (p.Gly1740Arg) c.5173G>C (p.Gly1725Arg) c.4297G>C (p.Gly1433Arg) c.4066G>C (p.Gly1356Arg) | |
| 10 | g.94298390G= | CA1928998369 | PLCE1 | c.4255G= (p.Gly1419=) c.*1722G= (n.*1722G=) n.1914G= n.598G= c.*463G= (n.*463G=) c.4207G= (p.Gly1403=) n.9387G= n.2852G= c.5047G= (p.Gly1683=) c.5131G= (p.Gly1711=) c.5179G= (p.Gly1727=) c.4153G= (p.Gly1385=) c.3734G= c.3295G= (p.Gly1099=) c.*1112G= (n.*1112G=) c.4448G= c.4024G= (p.Gly1342=) c.5221G= (p.Gly1741=) c.5218G= (p.Gly1740=) c.5173G= (p.Gly1725=) c.4297G= (p.Gly1433=) c.4066G= (p.Gly1356=) | |
| 10 | g.94298390G>T | CA377641677 | PLCE1 | c.4255G>T (p.Gly1419Cys) c.*1722G>T (n.*1722G>T) n.1914G>T n.598G>T c.*463G>T (n.*463G>T) c.4207G>T (p.Gly1403Cys) n.9387G>T n.2852G>T c.5047G>T (p.Gly1683Cys) c.5131G>T (p.Gly1711Cys) c.5179G>T (p.Gly1727Cys) c.4153G>T (p.Gly1385Cys) c.3734G>T c.3295G>T (p.Gly1099Cys) c.*1112G>T (n.*1112G>T) c.4448G>T c.4024G>T (p.Gly1342Cys) c.5221G>T (p.Gly1741Cys) c.5218G>T (p.Gly1740Cys) c.5173G>T (p.Gly1725Cys) c.4297G>T (p.Gly1433Cys) c.4066G>T (p.Gly1356Cys) | |
| 10 | g.94298391G>A | CA377641678 | PLCE1 | c.4256G>A (p.Gly1419Asp) c.*1723G>A (n.*1723G>A) n.1915G>A n.599G>A c.*464G>A (n.*464G>A) c.4208G>A (p.Gly1403Asp) n.9388G>A n.2853G>A c.5048G>A (p.Gly1683Asp) c.5132G>A (p.Gly1711Asp) c.5180G>A (p.Gly1727Asp) c.4154G>A (p.Gly1385Asp) c.3735G>A c.3296G>A (p.Gly1099Asp) c.*1113G>A (n.*1113G>A) c.4449G>A c.4025G>A (p.Gly1342Asp) c.5222G>A (p.Gly1741Asp) c.5219G>A (p.Gly1740Asp) c.5174G>A (p.Gly1725Asp) c.4298G>A (p.Gly1433Asp) c.4067G>A (p.Gly1356Asp) | dbSNP gnomAD v4 |
| 10 | g.94298391G>C | CA377641679 | PLCE1 | c.4256G>C (p.Gly1419Ala) c.*1723G>C (n.*1723G>C) n.1915G>C n.599G>C c.*464G>C (n.*464G>C) c.4208G>C (p.Gly1403Ala) n.9388G>C n.2853G>C c.5048G>C (p.Gly1683Ala) c.5132G>C (p.Gly1711Ala) c.5180G>C (p.Gly1727Ala) c.4154G>C (p.Gly1385Ala) c.3735G>C c.3296G>C (p.Gly1099Ala) c.*1113G>C (n.*1113G>C) c.4449G>C c.4025G>C (p.Gly1342Ala) c.5222G>C (p.Gly1741Ala) c.5219G>C (p.Gly1740Ala) c.5174G>C (p.Gly1725Ala) c.4298G>C (p.Gly1433Ala) c.4067G>C (p.Gly1356Ala) | |
| 10 | g.94298391G= | CA1928998370 | PLCE1 | c.4256G= (p.Gly1419=) c.*1723G= (n.*1723G=) n.1915G= n.599G= c.*464G= (n.*464G=) c.4208G= (p.Gly1403=) n.9388G= n.2853G= c.5048G= (p.Gly1683=) c.5132G= (p.Gly1711=) c.5180G= (p.Gly1727=) c.4154G= (p.Gly1385=) c.3735G= c.3296G= (p.Gly1099=) c.*1113G= (n.*1113G=) c.4449G= c.4025G= (p.Gly1342=) c.5222G= (p.Gly1741=) c.5219G= (p.Gly1740=) c.5174G= (p.Gly1725=) c.4298G= (p.Gly1433=) c.4067G= (p.Gly1356=) | |
| 10 | g.94298391G>T | CA377641680 | PLCE1 | c.4256G>T (p.Gly1419Val) c.*1723G>T (n.*1723G>T) n.1915G>T n.599G>T c.*464G>T (n.*464G>T) c.4208G>T (p.Gly1403Val) n.9388G>T n.2853G>T c.5048G>T (p.Gly1683Val) c.5132G>T (p.Gly1711Val) c.5180G>T (p.Gly1727Val) c.4154G>T (p.Gly1385Val) c.3735G>T c.3296G>T (p.Gly1099Val) c.*1113G>T (n.*1113G>T) c.4449G>T c.4025G>T (p.Gly1342Val) c.5222G>T (p.Gly1741Val) c.5219G>T (p.Gly1740Val) c.5174G>T (p.Gly1725Val) c.4298G>T (p.Gly1433Val) c.4067G>T (p.Gly1356Val) | |
| 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) |