| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94279839_94279841delinsCGA | CA1928986711 | PLCE1,PLCE1-AS1 | c.3799_3801delinsCGA (p.Arg1267=) c.*1266_*1268delinsCGA (n.*1266_*1268delinsCGA) n.1458_1460delinsCGA c.4723_4725delinsCGA (p.Arg1575=) c.3751_3753delinsCGA (p.Arg1251=) n.5053_5055delinsCGA c.4675_4677delinsCGA (p.Arg1559=) c.3697_3699delinsCGA (p.Arg1233=) c.3128_3130delinsCGA c.2800_2802delinsCGA (p.Arg934=) c.*656_*658delinsCGA (n.*656_*658delinsCGA) c.3950_3952delinsCGA c.3568_3570delinsCGA (p.Arg1190=) n.857_859delinsTCG | |
| 10 | g.94279840del | CA2610260643 | PLCE1,PLCE1-AS1 | c.3800del (p.Arg1267HisfsTer?) c.*1267del (n.*1267del) n.1459del c.4724del (p.Arg1575HisfsTer?) c.3752del (p.Arg1251HisfsTer?) n.5054del c.4676del (p.Arg1559HisfsTer?) c.3698del (p.Arg1233HisfsTer?) c.3129del c.2801del (p.Arg934HisfsTer?) c.*657del (n.*657del) c.3951del c.3569del (p.Arg1190HisfsTer?) n.858del | gnomAD v4 |
| 10 | g.94279840G>A | CA5613213 | PLCE1,PLCE1-AS1 | c.3800G>A (p.Arg1267Gln) c.*1267G>A (n.*1267G>A) n.1459G>A c.4724G>A (p.Arg1575Gln) c.3752G>A (p.Arg1251Gln) n.5054G>A c.4676G>A (p.Arg1559Gln) c.3698G>A (p.Arg1233Gln) c.3129G>A c.2801G>A (p.Arg934Gln) c.*657G>A (n.*657G>A) c.3951G>A c.3569G>A (p.Arg1190Gln) n.858C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94279840G>C | CA5613212 | PLCE1,PLCE1-AS1 | c.3800G>C (p.Arg1267Pro) c.*1267G>C (n.*1267G>C) n.1459G>C c.4724G>C (p.Arg1575Pro) c.3752G>C (p.Arg1251Pro) n.5054G>C c.4676G>C (p.Arg1559Pro) c.3698G>C (p.Arg1233Pro) c.3129G>C c.2801G>C (p.Arg934Pro) c.*657G>C (n.*657G>C) c.3951G>C c.3569G>C (p.Arg1190Pro) n.858C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94279840G= | CA1630848434 | PLCE1,PLCE1-AS1 | c.3800G= (p.Arg1267=) c.*1267G= (n.*1267G=) n.1459G= c.4724G= (p.Arg1575=) c.3752G= (p.Arg1251=) n.5054G= c.4676G= (p.Arg1559=) c.3698G= (p.Arg1233=) c.3129G= c.2801G= (p.Arg934=) c.*657G= (n.*657G=) c.3951G= c.3569G= (p.Arg1190=) n.858C= | |
| 10 | g.94279840G>T | CA377651696 | PLCE1,PLCE1-AS1 | c.3800G>T (p.Arg1267Leu) c.*1267G>T (n.*1267G>T) n.1459G>T c.4724G>T (p.Arg1575Leu) c.3752G>T (p.Arg1251Leu) n.5054G>T c.4676G>T (p.Arg1559Leu) c.3698G>T (p.Arg1233Leu) c.3129G>T c.2801G>T (p.Arg934Leu) c.*657G>T (n.*657G>T) c.3951G>T c.3569G>T (p.Arg1190Leu) n.858C>A | dbSNP |
| 10 | g.94279840_94279841del | CA5613211 | PLCE1,PLCE1-AS1 | c.3800_3801del (p.Arg1267ProfsTer4) c.*1267_*1268del (n.*1267_*1268del) n.1459_1460del c.4724_4725del (p.Arg1575ProfsTer4) c.3752_3753del (p.Arg1251ProfsTer4) n.5054_5055del c.4676_4677del (p.Arg1559ProfsTer4) c.3698_3699del (p.Arg1233ProfsTer4) c.3129_3130del c.2801_2802del (p.Arg934ProfsTer4) c.*657_*658del (n.*657_*658del) c.3951_3952del c.3569_3570del (p.Arg1190ProfsTer4) n.857_858del | dbSNP ExAC gnomAD v2 COSMIC COSMIC COSMIC |
| 10 | g.94279841A= | CA1928986744 | PLCE1,PLCE1-AS1 | c.3801A= (p.Arg1267=) c.*1268A= (n.*1268A=) n.1460A= c.4725A= (p.Arg1575=) c.3753A= (p.Arg1251=) n.5055A= c.4677A= (p.Arg1559=) c.3699A= (p.Arg1233=) c.3130A= c.2802A= (p.Arg934=) c.*658A= (n.*658A=) c.3952A= c.3570A= (p.Arg1190=) n.857T= | |
| 10 | g.94279841A>C | CA5613214 | PLCE1,PLCE1-AS1 | c.3801A>C (p.Arg1267=) c.*1268A>C (n.*1268A>C) n.1460A>C c.4725A>C (p.Arg1575=) c.3753A>C (p.Arg1251=) n.5055A>C c.4677A>C (p.Arg1559=) c.3699A>C (p.Arg1233=) c.3130A>C c.2802A>C (p.Arg934=) c.*658A>C (n.*658A>C) c.3952A>C c.3570A>C (p.Arg1190=) n.857T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.94279841A>G | CA5613216 | PLCE1,PLCE1-AS1 | c.3801A>G (p.Arg1267=) c.*1268A>G (n.*1268A>G) n.1460A>G c.4725A>G (p.Arg1575=) c.3753A>G (p.Arg1251=) n.5055A>G c.4677A>G (p.Arg1559=) c.3699A>G (p.Arg1233=) c.3130A>G c.2802A>G (p.Arg934=) c.*658A>G (n.*658A>G) c.3952A>G c.3570A>G (p.Arg1190=) n.857T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.94279841A>T | CA5613217 | PLCE1,PLCE1-AS1 | c.3801A>T (p.Arg1267=) c.*1268A>T (n.*1268A>T) n.1460A>T c.4725A>T (p.Arg1575=) c.3753A>T (p.Arg1251=) n.5055A>T c.4677A>T (p.Arg1559=) c.3699A>T (p.Arg1233=) c.3130A>T c.2802A>T (p.Arg934=) c.*658A>T (n.*658A>T) c.3952A>T c.3570A>T (p.Arg1190=) n.857T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94279842C>A | CA377651715 | PLCE1,PLCE1-AS1 | c.3802C>A (p.Pro1268Thr) c.*1269C>A (n.*1269C>A) n.1461C>A c.4726C>A (p.Pro1576Thr) c.3754C>A (p.Pro1252Thr) n.5056C>A c.4678C>A (p.Pro1560Thr) c.3700C>A (p.Pro1234Thr) c.3131C>A c.2803C>A (p.Pro935Thr) c.*659C>A (n.*659C>A) c.3953C>A c.3571C>A (p.Pro1191Thr) n.856G>T | |
| 10 | g.94279842C= | CA1928986754 | PLCE1,PLCE1-AS1 | c.3802C= (p.Pro1268=) c.*1269C= (n.*1269C=) n.1461C= c.4726C= (p.Pro1576=) c.3754C= (p.Pro1252=) n.5056C= c.4678C= (p.Pro1560=) c.3700C= (p.Pro1234=) c.3131C= c.2803C= (p.Pro935=) c.*659C= (n.*659C=) c.3953C= c.3571C= (p.Pro1191=) n.856G= | |
| 10 | g.94279842C>G | CA377651716 | PLCE1,PLCE1-AS1 | c.3802C>G (p.Pro1268Ala) c.*1269C>G (n.*1269C>G) n.1461C>G c.4726C>G (p.Pro1576Ala) c.3754C>G (p.Pro1252Ala) n.5056C>G c.4678C>G (p.Pro1560Ala) c.3700C>G (p.Pro1234Ala) c.3131C>G c.2803C>G (p.Pro935Ala) c.*659C>G (n.*659C>G) c.3953C>G c.3571C>G (p.Pro1191Ala) n.856G>C | |
| 10 | g.94279842C>T | CA5613218 | PLCE1,PLCE1-AS1 | c.3802C>T (p.Pro1268Ser) c.*1269C>T (n.*1269C>T) n.1461C>T c.4726C>T (p.Pro1576Ser) c.3754C>T (p.Pro1252Ser) n.5056C>T c.4678C>T (p.Pro1560Ser) c.3700C>T (p.Pro1234Ser) c.3131C>T c.2803C>T (p.Pro935Ser) c.*659C>T (n.*659C>T) c.3953C>T c.3571C>T (p.Pro1191Ser) n.856G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94279843_94279844insCCC | CA5613215 | PLCE1,PLCE1-AS1 | c.3803_3804insCCC (p.Pro1268_Ala1269insPro) c.*1270_*1271insCCC (n.*1270_*1271insCCC) n.1462_1463insCCC c.4727_4728insCCC (p.Pro1576_Ala1577insPro) c.3755_3756insCCC (p.Pro1252_Ala1253insPro) n.5057_5058insCCC c.4679_4680insCCC (p.Pro1560_Ala1561insPro) c.3701_3702insCCC (p.Pro1234_Ala1235insPro) c.3132_3133insCCC c.2804_2805insCCC (p.Pro935_Ala936insPro) c.*660_*661insCCC (n.*660_*661insCCC) c.3954_3955insCCC c.3572_3573insCCC (p.Pro1191_Ala1192insPro) n.856_857insGGG | dbSNP ExAC gnomAD v2 |
| 10 | g.94279843C>A | CA377651723 | PLCE1,PLCE1-AS1 | c.3803C>A (p.Pro1268His) c.*1270C>A (n.*1270C>A) n.1462C>A c.4727C>A (p.Pro1576His) c.3755C>A (p.Pro1252His) n.5057C>A c.4679C>A (p.Pro1560His) c.3701C>A (p.Pro1234His) c.3132C>A c.2804C>A (p.Pro935His) c.*660C>A (n.*660C>A) c.3954C>A c.3572C>A (p.Pro1191His) n.855G>T | |
| 10 | g.94279843C>G | CA377651731 | PLCE1,PLCE1-AS1 | c.3803C>G (p.Pro1268Arg) c.*1270C>G (n.*1270C>G) n.1462C>G c.4727C>G (p.Pro1576Arg) c.3755C>G (p.Pro1252Arg) n.5057C>G c.4679C>G (p.Pro1560Arg) c.3701C>G (p.Pro1234Arg) c.3132C>G c.2804C>G (p.Pro935Arg) c.*660C>G (n.*660C>G) c.3954C>G c.3572C>G (p.Pro1191Arg) n.855G>C | |
| 10 | g.94279843C>T | CA377651733 | PLCE1,PLCE1-AS1 | c.3803C>T (p.Pro1268Leu) c.*1270C>T (n.*1270C>T) n.1462C>T c.4727C>T (p.Pro1576Leu) c.3755C>T (p.Pro1252Leu) n.5057C>T c.4679C>T (p.Pro1560Leu) c.3701C>T (p.Pro1234Leu) c.3132C>T c.2804C>T (p.Pro935Leu) c.*660C>T (n.*660C>T) c.3954C>T c.3572C>T (p.Pro1191Leu) n.855G>A | |
| 10 | g.94279844T>A | CA470815957 | PLCE1,PLCE1-AS1 | c.3804T>A (p.Pro1268=) c.*1271T>A (n.*1271T>A) n.1463T>A c.4728T>A (p.Pro1576=) c.3756T>A (p.Pro1252=) n.5058T>A c.4680T>A (p.Pro1560=) c.3702T>A (p.Pro1234=) c.3133T>A c.2805T>A (p.Pro935=) c.*661T>A (n.*661T>A) c.3955T>A c.3573T>A (p.Pro1191=) n.854A>T | |
| 10 | g.94279844T>C | CA470815958 | PLCE1,PLCE1-AS1 | c.3804T>C (p.Pro1268=) c.*1271T>C (n.*1271T>C) n.1463T>C c.4728T>C (p.Pro1576=) c.3756T>C (p.Pro1252=) n.5058T>C c.4680T>C (p.Pro1560=) c.3702T>C (p.Pro1234=) c.3133T>C c.2805T>C (p.Pro935=) c.*661T>C (n.*661T>C) c.3955T>C c.3573T>C (p.Pro1191=) n.854A>G | |
| 10 | g.94279844T>G | CA470815955 | PLCE1,PLCE1-AS1 | c.3804T>G (p.Pro1268=) c.*1271T>G (n.*1271T>G) n.1463T>G c.4728T>G (p.Pro1576=) c.3756T>G (p.Pro1252=) n.5058T>G c.4680T>G (p.Pro1560=) c.3702T>G (p.Pro1234=) c.3133T>G c.2805T>G (p.Pro935=) c.*661T>G (n.*661T>G) c.3955T>G c.3573T>G (p.Pro1191=) n.854A>C | |
| 10 | g.94279845G>A | CA377651736 | PLCE1,PLCE1-AS1 | c.3805G>A (p.Ala1269Thr) c.*1272G>A (n.*1272G>A) n.1464G>A c.4729G>A (p.Ala1577Thr) c.3757G>A (p.Ala1253Thr) n.5059G>A c.4681G>A (p.Ala1561Thr) c.3703G>A (p.Ala1235Thr) c.3134G>A c.2806G>A (p.Ala936Thr) c.*662G>A (n.*662G>A) c.3956G>A c.3574G>A (p.Ala1192Thr) n.853C>T | dbSNP |
| 10 | g.94279845G>C | CA377651738 | PLCE1,PLCE1-AS1 | c.3805G>C (p.Ala1269Pro) c.*1272G>C (n.*1272G>C) n.1464G>C c.4729G>C (p.Ala1577Pro) c.3757G>C (p.Ala1253Pro) n.5059G>C c.4681G>C (p.Ala1561Pro) c.3703G>C (p.Ala1235Pro) c.3134G>C c.2806G>C (p.Ala936Pro) c.*662G>C (n.*662G>C) c.3956G>C c.3574G>C (p.Ala1192Pro) n.853C>G | |
| 10 | g.94279845G= | CA1928986763 | PLCE1,PLCE1-AS1 | c.3805G= (p.Ala1269=) c.*1272G= (n.*1272G=) n.1464G= c.4729G= (p.Ala1577=) c.3757G= (p.Ala1253=) n.5059G= c.4681G= (p.Ala1561=) c.3703G= (p.Ala1235=) c.3134G= c.2806G= (p.Ala936=) c.*662G= (n.*662G=) c.3956G= c.3574G= (p.Ala1192=) n.853C= | |
| 10 | g.94279845G>T | CA377651740 | PLCE1,PLCE1-AS1 | c.3805G>T (p.Ala1269Ser) c.*1272G>T (n.*1272G>T) n.1464G>T c.4729G>T (p.Ala1577Ser) c.3757G>T (p.Ala1253Ser) n.5059G>T c.4681G>T (p.Ala1561Ser) c.3703G>T (p.Ala1235Ser) c.3134G>T c.2806G>T (p.Ala936Ser) c.*662G>T (n.*662G>T) c.3956G>T c.3574G>T (p.Ala1192Ser) n.853C>A | |
| 10 | g.94279846C>A | CA377651746 | PLCE1,PLCE1-AS1 | c.3806C>A (p.Ala1269Asp) c.*1273C>A (n.*1273C>A) n.1465C>A c.4730C>A (p.Ala1577Asp) c.3758C>A (p.Ala1253Asp) n.5060C>A c.4682C>A (p.Ala1561Asp) c.3704C>A (p.Ala1235Asp) c.3135C>A c.2807C>A (p.Ala936Asp) c.*663C>A (n.*663C>A) c.3957C>A c.3575C>A (p.Ala1192Asp) n.852G>T | dbSNP |
| 10 | g.94279846C= | CA1928986769 | PLCE1,PLCE1-AS1 | c.3806C= (p.Ala1269=) c.*1273C= (n.*1273C=) n.1465C= c.4730C= (p.Ala1577=) c.3758C= (p.Ala1253=) n.5060C= c.4682C= (p.Ala1561=) c.3704C= (p.Ala1235=) c.3135C= c.2807C= (p.Ala936=) c.*663C= (n.*663C=) c.3957C= c.3575C= (p.Ala1192=) n.852G= | |
| 10 | g.94279846C>G | CA377651747 | PLCE1,PLCE1-AS1 | c.3806C>G (p.Ala1269Gly) c.*1273C>G (n.*1273C>G) n.1465C>G c.4730C>G (p.Ala1577Gly) c.3758C>G (p.Ala1253Gly) n.5060C>G c.4682C>G (p.Ala1561Gly) c.3704C>G (p.Ala1235Gly) c.3135C>G c.2807C>G (p.Ala936Gly) c.*663C>G (n.*663C>G) c.3957C>G c.3575C>G (p.Ala1192Gly) n.852G>C | |
| 10 | g.94279846C>T | CA377651744 | PLCE1,PLCE1-AS1 | c.3806C>T (p.Ala1269Val) c.*1273C>T (n.*1273C>T) n.1465C>T c.4730C>T (p.Ala1577Val) c.3758C>T (p.Ala1253Val) n.5060C>T c.4682C>T (p.Ala1561Val) c.3704C>T (p.Ala1235Val) c.3135C>T c.2807C>T (p.Ala936Val) c.*663C>T (n.*663C>T) c.3957C>T c.3575C>T (p.Ala1192Val) n.852G>A | |
| 10 | g.94279847del | CA2505930020 | PLCE1,PLCE1-AS1 | c.3807del (p.Asn1270IlefsTer?) c.*1274del (n.*1274del) n.1466del c.4731del (p.Asn1578IlefsTer?) c.3759del (p.Asn1254IlefsTer?) n.5061del c.4683del (p.Asn1562IlefsTer?) c.3705del (p.Asn1236IlefsTer?) c.3136del c.2808del (p.Asn937IlefsTer?) c.*664del (n.*664del) c.3958del c.3576del (p.Asn1193IlefsTer?) n.852del | |
| 10 | g.94279847C>A | CA470815961 | PLCE1,PLCE1-AS1 | c.3807C>A (p.Ala1269=) c.*1274C>A (n.*1274C>A) n.1466C>A c.4731C>A (p.Ala1577=) c.3759C>A (p.Ala1253=) n.5061C>A c.4683C>A (p.Ala1561=) c.3705C>A (p.Ala1235=) c.3136C>A c.2808C>A (p.Ala936=) c.*664C>A (n.*664C>A) c.3958C>A c.3576C>A (p.Ala1192=) n.851G>T | dbSNP |
| 10 | g.94279847C= | CA1928986772 | PLCE1,PLCE1-AS1 | c.3807C= (p.Ala1269=) c.*1274C= (n.*1274C=) n.1466C= c.4731C= (p.Ala1577=) c.3759C= (p.Ala1253=) n.5061C= c.4683C= (p.Ala1561=) c.3705C= (p.Ala1235=) c.3136C= c.2808C= (p.Ala936=) c.*664C= (n.*664C=) c.3958C= c.3576C= (p.Ala1192=) n.851G= | |
| 10 | g.94279847C>G | CA470815962 | PLCE1,PLCE1-AS1 | c.3807C>G (p.Ala1269=) c.*1274C>G (n.*1274C>G) n.1466C>G c.4731C>G (p.Ala1577=) c.3759C>G (p.Ala1253=) n.5061C>G c.4683C>G (p.Ala1561=) c.3705C>G (p.Ala1235=) c.3136C>G c.2808C>G (p.Ala936=) c.*664C>G (n.*664C>G) c.3958C>G c.3576C>G (p.Ala1192=) n.851G>C | |
| 10 | g.94279847C>T | CA470815963 | PLCE1,PLCE1-AS1 | c.3807C>T (p.Ala1269=) c.*1274C>T (n.*1274C>T) n.1466C>T c.4731C>T (p.Ala1577=) c.3759C>T (p.Ala1253=) n.5061C>T c.4683C>T (p.Ala1561=) c.3705C>T (p.Ala1235=) c.3136C>T c.2808C>T (p.Ala936=) c.*664C>T (n.*664C>T) c.3958C>T c.3576C>T (p.Ala1192=) n.851G>A | dbSNP gnomAD v4 |
| 10 | g.94279848A>C | CA377651749 | PLCE1,PLCE1-AS1 | c.3808A>C (p.Asn1270His) c.*1275A>C (n.*1275A>C) n.1467A>C c.4732A>C (p.Asn1578His) c.3760A>C (p.Asn1254His) n.5062A>C c.4684A>C (p.Asn1562His) c.3706A>C (p.Asn1236His) c.3137A>C c.2809A>C (p.Asn937His) c.*665A>C (n.*665A>C) c.3959A>C c.3577A>C (p.Asn1193His) n.850T>G | |
| 10 | g.94279848A>G | CA377651750 | PLCE1,PLCE1-AS1 | c.3808A>G (p.Asn1270Asp) c.*1275A>G (n.*1275A>G) n.1467A>G c.4732A>G (p.Asn1578Asp) c.3760A>G (p.Asn1254Asp) n.5062A>G c.4684A>G (p.Asn1562Asp) c.3706A>G (p.Asn1236Asp) c.3137A>G c.2809A>G (p.Asn937Asp) c.*665A>G (n.*665A>G) c.3959A>G c.3577A>G (p.Asn1193Asp) n.850T>C | |
| 10 | g.94279848A>T | CA377651751 | PLCE1,PLCE1-AS1 | c.3808A>T (p.Asn1270Tyr) c.*1275A>T (n.*1275A>T) n.1467A>T c.4732A>T (p.Asn1578Tyr) c.3760A>T (p.Asn1254Tyr) n.5062A>T c.4684A>T (p.Asn1562Tyr) c.3706A>T (p.Asn1236Tyr) c.3137A>T c.2809A>T (p.Asn937Tyr) c.*665A>T (n.*665A>T) c.3959A>T c.3577A>T (p.Asn1193Tyr) n.850T>A | |
| 10 | g.94279849A= | CA1928986781 | PLCE1,PLCE1-AS1 | c.3809A= (p.Asn1270=) c.*1276A= (n.*1276A=) n.1468A= c.4733A= (p.Asn1578=) c.3761A= (p.Asn1254=) n.5063A= c.4685A= (p.Asn1562=) c.3707A= (p.Asn1236=) c.3138A= c.2810A= (p.Asn937=) c.*666A= (n.*666A=) c.3960A= c.3578A= (p.Asn1193=) n.849T= | |
| 10 | g.94279849A>C | CA377651752 | PLCE1,PLCE1-AS1 | c.3809A>C (p.Asn1270Thr) c.*1276A>C (n.*1276A>C) n.1468A>C c.4733A>C (p.Asn1578Thr) c.3761A>C (p.Asn1254Thr) n.5063A>C c.4685A>C (p.Asn1562Thr) c.3707A>C (p.Asn1236Thr) c.3138A>C c.2810A>C (p.Asn937Thr) c.*666A>C (n.*666A>C) c.3960A>C c.3578A>C (p.Asn1193Thr) n.849T>G | |
| 10 | g.94279849A>G | CA5613219 | PLCE1,PLCE1-AS1 | c.3809A>G (p.Asn1270Ser) c.*1276A>G (n.*1276A>G) n.1468A>G c.4733A>G (p.Asn1578Ser) c.3761A>G (p.Asn1254Ser) n.5063A>G c.4685A>G (p.Asn1562Ser) c.3707A>G (p.Asn1236Ser) c.3138A>G c.2810A>G (p.Asn937Ser) c.*666A>G (n.*666A>G) c.3960A>G c.3578A>G (p.Asn1193Ser) n.849T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94279849A>T | CA5613220 | PLCE1,PLCE1-AS1 | c.3809A>T (p.Asn1270Ile) c.*1276A>T (n.*1276A>T) n.1468A>T c.4733A>T (p.Asn1578Ile) c.3761A>T (p.Asn1254Ile) n.5063A>T c.4685A>T (p.Asn1562Ile) c.3707A>T (p.Asn1236Ile) c.3138A>T c.2810A>T (p.Asn937Ile) c.*666A>T (n.*666A>T) c.3960A>T c.3578A>T (p.Asn1193Ile) n.849T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94279850T>A | CA377651754 | PLCE1,PLCE1-AS1 | c.3810T>A (p.Asn1270Lys) c.*1277T>A (n.*1277T>A) n.1469T>A c.4734T>A (p.Asn1578Lys) c.3762T>A (p.Asn1254Lys) n.5064T>A c.4686T>A (p.Asn1562Lys) c.3708T>A (p.Asn1236Lys) c.3139T>A c.2811T>A (p.Asn937Lys) c.*667T>A (n.*667T>A) c.3961T>A c.3579T>A (p.Asn1193Lys) n.848A>T | |
| 10 | g.94279850T>C | CA470815966 | PLCE1,PLCE1-AS1 | c.3810T>C (p.Asn1270=) c.*1277T>C (n.*1277T>C) n.1469T>C c.4734T>C (p.Asn1578=) c.3762T>C (p.Asn1254=) n.5064T>C c.4686T>C (p.Asn1562=) c.3708T>C (p.Asn1236=) c.3139T>C c.2811T>C (p.Asn937=) c.*667T>C (n.*667T>C) c.3961T>C c.3579T>C (p.Asn1193=) n.848A>G | |
| 10 | g.94279850T>G | CA377651756 | PLCE1,PLCE1-AS1 | c.3810T>G (p.Asn1270Lys) c.*1277T>G (n.*1277T>G) n.1469T>G c.4734T>G (p.Asn1578Lys) c.3762T>G (p.Asn1254Lys) n.5064T>G c.4686T>G (p.Asn1562Lys) c.3708T>G (p.Asn1236Lys) c.3139T>G c.2811T>G (p.Asn937Lys) c.*667T>G (n.*667T>G) c.3961T>G c.3579T>G (p.Asn1193Lys) n.848A>C | |
| 10 | g.94279851A>C | CA377651757 | PLCE1,PLCE1-AS1 | c.3811A>C (p.Asn1271His) c.*1278A>C (n.*1278A>C) n.1470A>C c.4735A>C (p.Asn1579His) c.3763A>C (p.Asn1255His) n.5065A>C c.4687A>C (p.Asn1563His) c.3709A>C (p.Asn1237His) c.3140A>C c.2812A>C (p.Asn938His) c.*668A>C (n.*668A>C) c.3962A>C c.3580A>C (p.Asn1194His) n.847T>G | |
| 10 | g.94279851A>G | CA377651758 | PLCE1,PLCE1-AS1 | c.3811A>G (p.Asn1271Asp) c.*1278A>G (n.*1278A>G) n.1470A>G c.4735A>G (p.Asn1579Asp) c.3763A>G (p.Asn1255Asp) n.5065A>G c.4687A>G (p.Asn1563Asp) c.3709A>G (p.Asn1237Asp) c.3140A>G c.2812A>G (p.Asn938Asp) c.*668A>G (n.*668A>G) c.3962A>G c.3580A>G (p.Asn1194Asp) n.847T>C | |
| 10 | g.94279851A>T | CA377651763 | PLCE1,PLCE1-AS1 | c.3811A>T (p.Asn1271Tyr) c.*1278A>T (n.*1278A>T) n.1470A>T c.4735A>T (p.Asn1579Tyr) c.3763A>T (p.Asn1255Tyr) n.5065A>T c.4687A>T (p.Asn1563Tyr) c.3709A>T (p.Asn1237Tyr) c.3140A>T c.2812A>T (p.Asn938Tyr) c.*668A>T (n.*668A>T) c.3962A>T c.3580A>T (p.Asn1194Tyr) n.847T>A | |
| 10 | g.94279852A>C | CA377651764 | PLCE1,PLCE1-AS1 | c.3812A>C (p.Asn1271Thr) c.*1279A>C (n.*1279A>C) n.1471A>C c.4736A>C (p.Asn1579Thr) c.3764A>C (p.Asn1255Thr) n.5066A>C c.4688A>C (p.Asn1563Thr) c.3710A>C (p.Asn1237Thr) c.3141A>C c.2813A>C (p.Asn938Thr) c.*669A>C (n.*669A>C) c.3963A>C c.3581A>C (p.Asn1194Thr) n.846T>G | |
| 10 | g.94279852A>G | CA377651767 | PLCE1,PLCE1-AS1 | c.3812A>G (p.Asn1271Ser) c.*1279A>G (n.*1279A>G) n.1471A>G c.4736A>G (p.Asn1579Ser) c.3764A>G (p.Asn1255Ser) n.5066A>G c.4688A>G (p.Asn1563Ser) c.3710A>G (p.Asn1237Ser) c.3141A>G c.2813A>G (p.Asn938Ser) c.*669A>G (n.*669A>G) c.3963A>G c.3581A>G (p.Asn1194Ser) n.846T>C |