| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94298441T>A | CA377641779 | PLCE1 | c.5230T>A (p.Ser1744Thr) n.4306T>A (p.Ser1436Thr) c.4306T>A (p.Ser1436Thr) c.5182T>A (p.Ser1728Thr) c.5272T>A (p.Ser1758Thr) c.5269T>A (p.Ser1757Thr) c.5224T>A (p.Ser1742Thr) c.4348T>A (p.Ser1450Thr) c.4117T>A (p.Ser1373Thr) c.4258T>A (p.Ser1420Thr) | |
| 10 | g.94298441T>C | CA377641777 | PLCE1 | c.5230T>C (p.Ser1744Pro) n.4306T>C (p.Ser1436Pro) c.4306T>C (p.Ser1436Pro) c.5182T>C (p.Ser1728Pro) c.5272T>C (p.Ser1758Pro) c.5269T>C (p.Ser1757Pro) c.5224T>C (p.Ser1742Pro) c.4348T>C (p.Ser1450Pro) c.4117T>C (p.Ser1373Pro) c.4258T>C (p.Ser1420Pro) | |
| 10 | g.94298441T>G | CA377641778 | PLCE1 | c.5230T>G (p.Ser1744Ala) n.4306T>G (p.Ser1436Ala) c.4306T>G (p.Ser1436Ala) c.5182T>G (p.Ser1728Ala) c.5272T>G (p.Ser1758Ala) c.5269T>G (p.Ser1757Ala) c.5224T>G (p.Ser1742Ala) c.4348T>G (p.Ser1450Ala) c.4117T>G (p.Ser1373Ala) c.4258T>G (p.Ser1420Ala) | |
| 10 | g.94298442C>A | CA377641780 | PLCE1 | c.5231C>A (p.Ser1744Tyr) n.4307C>A (p.Ser1436Tyr) c.4307C>A (p.Ser1436Tyr) c.5183C>A (p.Ser1728Tyr) c.5273C>A (p.Ser1758Tyr) c.5270C>A (p.Ser1757Tyr) c.5225C>A (p.Ser1742Tyr) c.4349C>A (p.Ser1450Tyr) c.4118C>A (p.Ser1373Tyr) c.4259C>A (p.Ser1420Tyr) | gnomAD |
| 10 | g.94298442C>G | CA377641781 | PLCE1 | c.5231C>G (p.Ser1744Cys) n.4307C>G (p.Ser1436Cys) c.4307C>G (p.Ser1436Cys) c.5183C>G (p.Ser1728Cys) c.5273C>G (p.Ser1758Cys) c.5270C>G (p.Ser1757Cys) c.5225C>G (p.Ser1742Cys) c.4349C>G (p.Ser1450Cys) c.4118C>G (p.Ser1373Cys) c.4259C>G (p.Ser1420Cys) | |
| 10 | g.94298442C>T | CA377641782 | PLCE1 | c.5231C>T (p.Ser1744Phe) n.4307C>T (p.Ser1436Phe) c.4307C>T (p.Ser1436Phe) c.5183C>T (p.Ser1728Phe) c.5273C>T (p.Ser1758Phe) c.5270C>T (p.Ser1757Phe) c.5225C>T (p.Ser1742Phe) c.4349C>T (p.Ser1450Phe) c.4118C>T (p.Ser1373Phe) c.4259C>T (p.Ser1420Phe) | |
| 10 | g.94298443C>A | CA470986451 | PLCE1 | c.5232C>A (p.Ser1744=) n.4308C>A (p.Ser1436=) c.4308C>A (p.Ser1436=) c.5184C>A (p.Ser1728=) c.5274C>A (p.Ser1758=) c.5271C>A (p.Ser1757=) c.5226C>A (p.Ser1742=) c.4350C>A (p.Ser1450=) c.4119C>A (p.Ser1373=) c.4260C>A (p.Ser1420=) | |
| 10 | g.94298443C>G | CA470986453 | PLCE1 | c.5232C>G (p.Ser1744=) n.4308C>G (p.Ser1436=) c.4308C>G (p.Ser1436=) c.5184C>G (p.Ser1728=) c.5274C>G (p.Ser1758=) c.5271C>G (p.Ser1757=) c.5226C>G (p.Ser1742=) c.4350C>G (p.Ser1450=) c.4119C>G (p.Ser1373=) c.4260C>G (p.Ser1420=) | |
| 10 | g.94298443C>T | CA470986452 | PLCE1 | c.5232C>T (p.Ser1744=) n.4308C>T (p.Ser1436=) c.4308C>T (p.Ser1436=) c.5184C>T (p.Ser1728=) c.5274C>T (p.Ser1758=) c.5271C>T (p.Ser1757=) c.5226C>T (p.Ser1742=) c.4350C>T (p.Ser1450=) c.4119C>T (p.Ser1373=) c.4260C>T (p.Ser1420=) | |
| 10 | g.94298444C>A | CA377641783 | PLCE1 | c.5233C>A (p.Leu1745Ile) n.4309C>A (p.Leu1437Ile) c.4309C>A (p.Leu1437Ile) c.5185C>A (p.Leu1729Ile) c.5275C>A (p.Leu1759Ile) c.5272C>A (p.Leu1758Ile) c.5227C>A (p.Leu1743Ile) c.4351C>A (p.Leu1451Ile) c.4120C>A (p.Leu1374Ile) c.4261C>A (p.Leu1421Ile) | COSMIC COSMIC COSMIC COSMIC |
| 10 | g.94298444C>G | CA377641784 | PLCE1 | c.5233C>G (p.Leu1745Val) n.4309C>G (p.Leu1437Val) c.4309C>G (p.Leu1437Val) c.5185C>G (p.Leu1729Val) c.5275C>G (p.Leu1759Val) c.5272C>G (p.Leu1758Val) c.5227C>G (p.Leu1743Val) c.4351C>G (p.Leu1451Val) c.4120C>G (p.Leu1374Val) c.4261C>G (p.Leu1421Val) | |
| 10 | g.94298444C>T | CA377641785 | PLCE1 | c.5233C>T (p.Leu1745Phe) n.4309C>T (p.Leu1437Phe) c.4309C>T (p.Leu1437Phe) c.5185C>T (p.Leu1729Phe) c.5275C>T (p.Leu1759Phe) c.5272C>T (p.Leu1758Phe) c.5227C>T (p.Leu1743Phe) c.4351C>T (p.Leu1451Phe) c.4120C>T (p.Leu1374Phe) c.4261C>T (p.Leu1421Phe) | gnomAD |
| 10 | g.94298445T>A | CA377641786 | PLCE1 | c.5234T>A (p.Leu1745His) n.4310T>A (p.Leu1437His) c.4310T>A (p.Leu1437His) c.5186T>A (p.Leu1729His) c.5276T>A (p.Leu1759His) c.5273T>A (p.Leu1758His) c.5228T>A (p.Leu1743His) c.4352T>A (p.Leu1451His) c.4121T>A (p.Leu1374His) c.4262T>A (p.Leu1421His) | |
| 10 | g.94298445T>C | CA377641787 | PLCE1 | c.5234T>C (p.Leu1745Pro) n.4310T>C (p.Leu1437Pro) c.4310T>C (p.Leu1437Pro) c.5186T>C (p.Leu1729Pro) c.5276T>C (p.Leu1759Pro) c.5273T>C (p.Leu1758Pro) c.5228T>C (p.Leu1743Pro) c.4352T>C (p.Leu1451Pro) c.4121T>C (p.Leu1374Pro) c.4262T>C (p.Leu1421Pro) | |
| 10 | g.94298445T>G | CA377641788 | PLCE1 | c.5234T>G (p.Leu1745Arg) n.4310T>G (p.Leu1437Arg) c.4310T>G (p.Leu1437Arg) c.5186T>G (p.Leu1729Arg) c.5276T>G (p.Leu1759Arg) c.5273T>G (p.Leu1758Arg) c.5228T>G (p.Leu1743Arg) c.4352T>G (p.Leu1451Arg) c.4121T>G (p.Leu1374Arg) c.4262T>G (p.Leu1421Arg) | |
| 10 | g.94298446C>A | CA470986454 | PLCE1 | c.5235C>A (p.Leu1745=) n.4311C>A (p.Leu1437=) c.4311C>A (p.Leu1437=) c.5187C>A (p.Leu1729=) c.5277C>A (p.Leu1759=) c.5274C>A (p.Leu1758=) c.5229C>A (p.Leu1743=) c.4353C>A (p.Leu1451=) c.4122C>A (p.Leu1374=) c.4263C>A (p.Leu1421=) | |
| 10 | g.94298446C>G | CA470986455 | PLCE1 | c.5235C>G (p.Leu1745=) n.4311C>G (p.Leu1437=) c.4311C>G (p.Leu1437=) c.5187C>G (p.Leu1729=) c.5277C>G (p.Leu1759=) c.5274C>G (p.Leu1758=) c.5229C>G (p.Leu1743=) c.4353C>G (p.Leu1451=) c.4122C>G (p.Leu1374=) c.4263C>G (p.Leu1421=) | |
| 10 | g.94298446C>T | CA470986456 | PLCE1 | c.5235C>T (p.Leu1745=) n.4311C>T (p.Leu1437=) c.4311C>T (p.Leu1437=) c.5187C>T (p.Leu1729=) c.5277C>T (p.Leu1759=) c.5274C>T (p.Leu1758=) c.5229C>T (p.Leu1743=) c.4353C>T (p.Leu1451=) c.4122C>T (p.Leu1374=) c.4263C>T (p.Leu1421=) | |
| 10 | g.94298447A>C | CA377641789 | PLCE1 | c.5236A>C (p.Ser1746Arg) n.4312A>C (p.Ser1438Arg) c.4312A>C (p.Ser1438Arg) c.5188A>C (p.Ser1730Arg) c.5278A>C (p.Ser1760Arg) c.5275A>C (p.Ser1759Arg) c.5230A>C (p.Ser1744Arg) c.4354A>C (p.Ser1452Arg) c.4123A>C (p.Ser1375Arg) c.4264A>C (p.Ser1422Arg) | |
| 10 | g.94298447A>G | CA377641790 | PLCE1 | c.5236A>G (p.Ser1746Gly) n.4312A>G (p.Ser1438Gly) c.4312A>G (p.Ser1438Gly) c.5188A>G (p.Ser1730Gly) c.5278A>G (p.Ser1760Gly) c.5275A>G (p.Ser1759Gly) c.5230A>G (p.Ser1744Gly) c.4354A>G (p.Ser1452Gly) c.4123A>G (p.Ser1375Gly) c.4264A>G (p.Ser1422Gly) | |
| 10 | g.94298447A>T | CA377641791 | PLCE1 | c.5236A>T (p.Ser1746Cys) n.4312A>T (p.Ser1438Cys) c.4312A>T (p.Ser1438Cys) c.5188A>T (p.Ser1730Cys) c.5278A>T (p.Ser1760Cys) c.5275A>T (p.Ser1759Cys) c.5230A>T (p.Ser1744Cys) c.4354A>T (p.Ser1452Cys) c.4123A>T (p.Ser1375Cys) c.4264A>T (p.Ser1422Cys) | |
| 10 | g.94298448G>A | CA377641793 | PLCE1 | c.5237G>A (p.Ser1746Asn) n.4313G>A (p.Ser1438Asn) c.4313G>A (p.Ser1438Asn) c.5189G>A (p.Ser1730Asn) c.5279G>A (p.Ser1760Asn) c.5276G>A (p.Ser1759Asn) c.5231G>A (p.Ser1744Asn) c.4355G>A (p.Ser1452Asn) c.4124G>A (p.Ser1375Asn) c.4265G>A (p.Ser1422Asn) | |
| 10 | g.94298448G>C | CA377641794 | PLCE1 | c.5237G>C (p.Ser1746Thr) n.4313G>C (p.Ser1438Thr) c.4313G>C (p.Ser1438Thr) c.5189G>C (p.Ser1730Thr) c.5279G>C (p.Ser1760Thr) c.5276G>C (p.Ser1759Thr) c.5231G>C (p.Ser1744Thr) c.4355G>C (p.Ser1452Thr) c.4124G>C (p.Ser1375Thr) c.4265G>C (p.Ser1422Thr) | |
| 10 | g.94298448G>T | CA377641792 | PLCE1 | c.5237G>T (p.Ser1746Ile) n.4313G>T (p.Ser1438Ile) c.4313G>T (p.Ser1438Ile) c.5189G>T (p.Ser1730Ile) c.5279G>T (p.Ser1760Ile) c.5276G>T (p.Ser1759Ile) c.5231G>T (p.Ser1744Ile) c.4355G>T (p.Ser1452Ile) c.4124G>T (p.Ser1375Ile) c.4265G>T (p.Ser1422Ile) | |
| 10 | g.94298449T>A | CA377641795 | PLCE1 | c.5238T>A (p.Ser1746Arg) n.4314T>A (p.Ser1438Arg) c.4314T>A (p.Ser1438Arg) c.5190T>A (p.Ser1730Arg) c.5280T>A (p.Ser1760Arg) c.5277T>A (p.Ser1759Arg) c.5232T>A (p.Ser1744Arg) c.4356T>A (p.Ser1452Arg) c.4125T>A (p.Ser1375Arg) c.4266T>A (p.Ser1422Arg) | |
| 10 | g.94298449T>C | CA470986460 | PLCE1 | c.5238T>C (p.Ser1746=) n.4314T>C (p.Ser1438=) c.4314T>C (p.Ser1438=) c.5190T>C (p.Ser1730=) c.5280T>C (p.Ser1760=) c.5277T>C (p.Ser1759=) c.5232T>C (p.Ser1744=) c.4356T>C (p.Ser1452=) c.4125T>C (p.Ser1375=) c.4266T>C (p.Ser1422=) | |
| 10 | g.94298449T>G | CA377641796 | PLCE1 | c.5238T>G (p.Ser1746Arg) n.4314T>G (p.Ser1438Arg) c.4314T>G (p.Ser1438Arg) c.5190T>G (p.Ser1730Arg) c.5280T>G (p.Ser1760Arg) c.5277T>G (p.Ser1759Arg) c.5232T>G (p.Ser1744Arg) c.4356T>G (p.Ser1452Arg) c.4125T>G (p.Ser1375Arg) c.4266T>G (p.Ser1422Arg) | |
| 10 | g.94298450G>A | CA377641797 | PLCE1 | c.5239G>A (p.Ala1747Thr) n.4315G>A (p.Ala1439Thr) c.4315G>A (p.Ala1439Thr) c.5191G>A (p.Ala1731Thr) c.5281G>A (p.Ala1761Thr) c.5278G>A (p.Ala1760Thr) c.5233G>A (p.Ala1745Thr) c.4357G>A (p.Ala1453Thr) c.4126G>A (p.Ala1376Thr) c.4267G>A (p.Ala1423Thr) | |
| 10 | g.94298450G>C | CA377641798 | PLCE1 | c.5239G>C (p.Ala1747Pro) n.4315G>C (p.Ala1439Pro) c.4315G>C (p.Ala1439Pro) c.5191G>C (p.Ala1731Pro) c.5281G>C (p.Ala1761Pro) c.5278G>C (p.Ala1760Pro) c.5233G>C (p.Ala1745Pro) c.4357G>C (p.Ala1453Pro) c.4126G>C (p.Ala1376Pro) c.4267G>C (p.Ala1423Pro) | |
| 10 | g.94298450G>T | CA377641799 | PLCE1 | c.5239G>T (p.Ala1747Ser) n.4315G>T (p.Ala1439Ser) c.4315G>T (p.Ala1439Ser) c.5191G>T (p.Ala1731Ser) c.5281G>T (p.Ala1761Ser) c.5278G>T (p.Ala1760Ser) c.5233G>T (p.Ala1745Ser) c.4357G>T (p.Ala1453Ser) c.4126G>T (p.Ala1376Ser) c.4267G>T (p.Ala1423Ser) | |
| 10 | g.94298451C>A | CA377641800 | PLCE1 | c.5240C>A (p.Ala1747Asp) n.4316C>A (p.Ala1439Asp) c.4316C>A (p.Ala1439Asp) c.5192C>A (p.Ala1731Asp) c.5282C>A (p.Ala1761Asp) c.5279C>A (p.Ala1760Asp) c.5234C>A (p.Ala1745Asp) c.4358C>A (p.Ala1453Asp) c.4127C>A (p.Ala1376Asp) c.4268C>A (p.Ala1423Asp) | |
| 10 | g.94298451C>G | CA377641801 | PLCE1 | c.5240C>G (p.Ala1747Gly) n.4316C>G (p.Ala1439Gly) c.4316C>G (p.Ala1439Gly) c.5192C>G (p.Ala1731Gly) c.5282C>G (p.Ala1761Gly) c.5279C>G (p.Ala1760Gly) c.5234C>G (p.Ala1745Gly) c.4358C>G (p.Ala1453Gly) c.4127C>G (p.Ala1376Gly) c.4268C>G (p.Ala1423Gly) | |
| 10 | g.94298451C>T | CA377641802 | PLCE1 | c.5240C>T (p.Ala1747Val) n.4316C>T (p.Ala1439Val) c.4316C>T (p.Ala1439Val) c.5192C>T (p.Ala1731Val) c.5282C>T (p.Ala1761Val) c.5279C>T (p.Ala1760Val) c.5234C>T (p.Ala1745Val) c.4358C>T (p.Ala1453Val) c.4127C>T (p.Ala1376Val) c.4268C>T (p.Ala1423Val) | |
| 10 | g.94298452T>A | CA211599625 | PLCE1 | c.5241T>A (p.Ala1747=) n.4317T>A (p.Ala1439=) c.4317T>A (p.Ala1439=) c.5193T>A (p.Ala1731=) c.5283T>A (p.Ala1761=) c.5280T>A (p.Ala1760=) c.5235T>A (p.Ala1745=) c.4359T>A (p.Ala1453=) c.4128T>A (p.Ala1376=) c.4269T>A (p.Ala1423=) | dbSNP |
| 10 | g.94298452T>C | CA470986462 | PLCE1 | c.5241T>C (p.Ala1747=) n.4317T>C (p.Ala1439=) c.4317T>C (p.Ala1439=) c.5193T>C (p.Ala1731=) c.5283T>C (p.Ala1761=) c.5280T>C (p.Ala1760=) c.5235T>C (p.Ala1745=) c.4359T>C (p.Ala1453=) c.4128T>C (p.Ala1376=) c.4269T>C (p.Ala1423=) | |
| 10 | g.94298452T>G | CA470986461 | PLCE1 | c.5241T>G (p.Ala1747=) n.4317T>G (p.Ala1439=) c.4317T>G (p.Ala1439=) c.5193T>G (p.Ala1731=) c.5283T>G (p.Ala1761=) c.5280T>G (p.Ala1760=) c.5235T>G (p.Ala1745=) c.4359T>G (p.Ala1453=) c.4128T>G (p.Ala1376=) c.4269T>G (p.Ala1423=) | |
| 10 | g.94298453A>C | CA377641803 | PLCE1 | c.5242A>C (p.Ile1748Leu) n.4318A>C (p.Ile1440Leu) c.4318A>C (p.Ile1440Leu) c.5194A>C (p.Ile1732Leu) c.5284A>C (p.Ile1762Leu) c.5281A>C (p.Ile1761Leu) c.5236A>C (p.Ile1746Leu) c.4360A>C (p.Ile1454Leu) c.4129A>C (p.Ile1377Leu) c.4270A>C (p.Ile1424Leu) | |
| 10 | g.94298453A>G | CA377641804 | PLCE1 | c.5242A>G (p.Ile1748Val) n.4318A>G (p.Ile1440Val) c.4318A>G (p.Ile1440Val) c.5194A>G (p.Ile1732Val) c.5284A>G (p.Ile1762Val) c.5281A>G (p.Ile1761Val) c.5236A>G (p.Ile1746Val) c.4360A>G (p.Ile1454Val) c.4129A>G (p.Ile1377Val) c.4270A>G (p.Ile1424Val) | |
| 10 | g.94298453A>T | CA377641805 | PLCE1 | c.5242A>T (p.Ile1748Phe) n.4318A>T (p.Ile1440Phe) c.4318A>T (p.Ile1440Phe) c.5194A>T (p.Ile1732Phe) c.5284A>T (p.Ile1762Phe) c.5281A>T (p.Ile1761Phe) c.5236A>T (p.Ile1746Phe) c.4360A>T (p.Ile1454Phe) c.4129A>T (p.Ile1377Phe) c.4270A>T (p.Ile1424Phe) | |
| 10 | g.94298454T>A | CA377641806 | PLCE1 | c.5243T>A (p.Ile1748Asn) n.4319T>A (p.Ile1440Asn) c.4319T>A (p.Ile1440Asn) c.5195T>A (p.Ile1732Asn) c.5285T>A (p.Ile1762Asn) c.5282T>A (p.Ile1761Asn) c.5237T>A (p.Ile1746Asn) c.4361T>A (p.Ile1454Asn) c.4130T>A (p.Ile1377Asn) c.4271T>A (p.Ile1424Asn) | |
| 10 | g.94298454T>C | CA377641807 | PLCE1 | c.5243T>C (p.Ile1748Thr) n.4319T>C (p.Ile1440Thr) c.4319T>C (p.Ile1440Thr) c.5195T>C (p.Ile1732Thr) c.5285T>C (p.Ile1762Thr) c.5282T>C (p.Ile1761Thr) c.5237T>C (p.Ile1746Thr) c.4361T>C (p.Ile1454Thr) c.4130T>C (p.Ile1377Thr) c.4271T>C (p.Ile1424Thr) | |
| 10 | g.94298454T>G | CA377641808 | PLCE1 | c.5243T>G (p.Ile1748Ser) n.4319T>G (p.Ile1440Ser) c.4319T>G (p.Ile1440Ser) c.5195T>G (p.Ile1732Ser) c.5285T>G (p.Ile1762Ser) c.5282T>G (p.Ile1761Ser) c.5237T>G (p.Ile1746Ser) c.4361T>G (p.Ile1454Ser) c.4130T>G (p.Ile1377Ser) c.4271T>G (p.Ile1424Ser) | gnomAD |
| 10 | g.94298455C>A | CA470986463 | PLCE1 | c.5244C>A (p.Ile1748=) n.4320C>A (p.Ile1440=) c.4320C>A (p.Ile1440=) c.5196C>A (p.Ile1732=) c.5286C>A (p.Ile1762=) c.5283C>A (p.Ile1761=) c.5238C>A (p.Ile1746=) c.4362C>A (p.Ile1454=) c.4131C>A (p.Ile1377=) c.4272C>A (p.Ile1424=) | |
| 10 | g.94298455C>G | CA377641809 | PLCE1 | c.5244C>G (p.Ile1748Met) n.4320C>G (p.Ile1440Met) c.4320C>G (p.Ile1440Met) c.5196C>G (p.Ile1732Met) c.5286C>G (p.Ile1762Met) c.5283C>G (p.Ile1761Met) c.5238C>G (p.Ile1746Met) c.4362C>G (p.Ile1454Met) c.4131C>G (p.Ile1377Met) c.4272C>G (p.Ile1424Met) | |
| 10 | g.94298455C>T | CA470986464 | PLCE1 | c.5244C>T (p.Ile1748=) n.4320C>T (p.Ile1440=) c.4320C>T (p.Ile1440=) c.5196C>T (p.Ile1732=) c.5286C>T (p.Ile1762=) c.5283C>T (p.Ile1761=) c.5238C>T (p.Ile1746=) c.4362C>T (p.Ile1454=) c.4131C>T (p.Ile1377=) c.4272C>T (p.Ile1424=) | |
| 10 | g.94298456A>C | CA377641810 | PLCE1 | c.5245A>C (p.Ile1749Leu) n.4321A>C (p.Ile1441Leu) c.4321A>C (p.Ile1441Leu) c.5197A>C (p.Ile1733Leu) c.5287A>C (p.Ile1763Leu) c.5284A>C (p.Ile1762Leu) c.5239A>C (p.Ile1747Leu) c.4363A>C (p.Ile1455Leu) c.4132A>C (p.Ile1378Leu) c.4273A>C (p.Ile1425Leu) | |
| 10 | g.94298456A>G | CA377641811 | PLCE1 | c.5245A>G (p.Ile1749Val) n.4321A>G (p.Ile1441Val) c.4321A>G (p.Ile1441Val) c.5197A>G (p.Ile1733Val) c.5287A>G (p.Ile1763Val) c.5284A>G (p.Ile1762Val) c.5239A>G (p.Ile1747Val) c.4363A>G (p.Ile1455Val) c.4132A>G (p.Ile1378Val) c.4273A>G (p.Ile1425Val) | |
| 10 | g.94298456A>T | CA377641812 | PLCE1 | c.5245A>T (p.Ile1749Phe) n.4321A>T (p.Ile1441Phe) c.4321A>T (p.Ile1441Phe) c.5197A>T (p.Ile1733Phe) c.5287A>T (p.Ile1763Phe) c.5284A>T (p.Ile1762Phe) c.5239A>T (p.Ile1747Phe) c.4363A>T (p.Ile1455Phe) c.4132A>T (p.Ile1378Phe) c.4273A>T (p.Ile1425Phe) | |
| 10 | g.94298457T>A | CA377641813 | PLCE1 | c.5246T>A (p.Ile1749Asn) n.4322T>A (p.Ile1441Asn) c.4322T>A (p.Ile1441Asn) c.5198T>A (p.Ile1733Asn) 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) c.4274T>A (p.Ile1425Asn) | |
| 10 | g.94298457T>C | CA377641814 | PLCE1 | c.5246T>C (p.Ile1749Thr) n.4322T>C (p.Ile1441Thr) c.4322T>C (p.Ile1441Thr) c.5198T>C (p.Ile1733Thr) 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) c.4274T>C (p.Ile1425Thr) |