WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94293559G>A | CA377640624 | PLCE1 | c.4163G>A (p.Ser1388Asn) c.*1630G>A (n.*1630G>A) n.1822G>A n.506G>A c.*371G>A (n.*371G>A) c.4115G>A (p.Ser1372Asn) n.9295G>A n.2760G>A c.5036-4820G>A (n.5036-4820G>A) c.5039G>A (p.Ser1680Asn) c.5087G>A (p.Ser1696Asn) c.4061G>A (p.Ser1354Asn) c.3642G>A c.3203G>A (p.Ser1068Asn) c.*1020G>A (n.*1020G>A) c.4356G>A c.3932G>A (p.Ser1311Asn) c.5129G>A (p.Ser1710Asn) c.5126G>A (p.Ser1709Asn) c.5081G>A (p.Ser1694Asn) c.4205G>A (p.Ser1402Asn) c.3974G>A (p.Ser1325Asn) | |
| 10 | g.94293559G>C | CA377640626 | PLCE1 | c.4163G>C (p.Ser1388Thr) c.*1630G>C (n.*1630G>C) n.1822G>C n.506G>C c.*371G>C (n.*371G>C) c.4115G>C (p.Ser1372Thr) n.9295G>C n.2760G>C c.5036-4820G>C (n.5036-4820G>C) c.5039G>C (p.Ser1680Thr) c.5087G>C (p.Ser1696Thr) c.4061G>C (p.Ser1354Thr) c.3642G>C c.3203G>C (p.Ser1068Thr) c.*1020G>C (n.*1020G>C) c.4356G>C c.3932G>C (p.Ser1311Thr) c.5129G>C (p.Ser1710Thr) c.5126G>C (p.Ser1709Thr) c.5081G>C (p.Ser1694Thr) c.4205G>C (p.Ser1402Thr) c.3974G>C (p.Ser1325Thr) | |
| 10 | g.94293559G>T | CA377640627 | PLCE1 | c.4163G>T (p.Ser1388Ile) c.*1630G>T (n.*1630G>T) n.1822G>T n.506G>T c.*371G>T (n.*371G>T) c.4115G>T (p.Ser1372Ile) n.9295G>T n.2760G>T c.5036-4820G>T (n.5036-4820G>T) c.5039G>T (p.Ser1680Ile) c.5087G>T (p.Ser1696Ile) c.4061G>T (p.Ser1354Ile) c.3642G>T c.3203G>T (p.Ser1068Ile) c.*1020G>T (n.*1020G>T) c.4356G>T c.3932G>T (p.Ser1311Ile) c.5129G>T (p.Ser1710Ile) c.5126G>T (p.Ser1709Ile) c.5081G>T (p.Ser1694Ile) c.4205G>T (p.Ser1402Ile) c.3974G>T (p.Ser1325Ile) | |
| 10 | g.94293560C>A | CA377640630 | PLCE1 | c.4164C>A (p.Ser1388Arg) c.*1631C>A (n.*1631C>A) n.1823C>A n.507C>A c.*372C>A (n.*372C>A) c.4116C>A (p.Ser1372Arg) n.9296C>A n.2761C>A c.5036-4819C>A (n.5036-4819C>A) c.5040C>A (p.Ser1680Arg) c.5088C>A (p.Ser1696Arg) c.4062C>A (p.Ser1354Arg) c.3643C>A c.3204C>A (p.Ser1068Arg) c.*1021C>A (n.*1021C>A) c.4357C>A c.3933C>A (p.Ser1311Arg) c.5130C>A (p.Ser1710Arg) c.5127C>A (p.Ser1709Arg) c.5082C>A (p.Ser1694Arg) c.4206C>A (p.Ser1402Arg) c.3975C>A (p.Ser1325Arg) | |
| 10 | g.94293560C>G | CA377640631 | PLCE1 | c.4164C>G (p.Ser1388Arg) c.*1631C>G (n.*1631C>G) n.1823C>G n.507C>G c.*372C>G (n.*372C>G) c.4116C>G (p.Ser1372Arg) n.9296C>G n.2761C>G c.5036-4819C>G (n.5036-4819C>G) c.5040C>G (p.Ser1680Arg) c.5088C>G (p.Ser1696Arg) c.4062C>G (p.Ser1354Arg) c.3643C>G c.3204C>G (p.Ser1068Arg) c.*1021C>G (n.*1021C>G) c.4357C>G c.3933C>G (p.Ser1311Arg) c.5130C>G (p.Ser1710Arg) c.5127C>G (p.Ser1709Arg) c.5082C>G (p.Ser1694Arg) c.4206C>G (p.Ser1402Arg) c.3975C>G (p.Ser1325Arg) | |
| 10 | g.94293560C>T | CA470807493 | PLCE1 | c.4164C>T (p.Ser1388=) c.*1631C>T (n.*1631C>T) n.1823C>T n.507C>T c.*372C>T (n.*372C>T) c.4116C>T (p.Ser1372=) n.9296C>T n.2761C>T c.5036-4819C>T (n.5036-4819C>T) c.5040C>T (p.Ser1680=) c.5088C>T (p.Ser1696=) c.4062C>T (p.Ser1354=) c.3643C>T c.3204C>T (p.Ser1068=) c.*1021C>T (n.*1021C>T) c.4357C>T c.3933C>T (p.Ser1311=) c.5130C>T (p.Ser1710=) c.5127C>T (p.Ser1709=) c.5082C>T (p.Ser1694=) c.4206C>T (p.Ser1402=) c.3975C>T (p.Ser1325=) | |
| 10 | g.94293561A>C | CA470807495 | PLCE1 | c.4165A>C (p.Arg1389=) c.*1632A>C (n.*1632A>C) n.1824A>C n.508A>C c.*373A>C (n.*373A>C) c.4117A>C (p.Arg1373=) n.9297A>C n.2762A>C c.5036-4818A>C (n.5036-4818A>C) c.5041A>C (p.Arg1681=) c.5089A>C (p.Arg1697=) c.4063A>C (p.Arg1355=) c.3644A>C c.3205A>C (p.Arg1069=) c.*1022A>C (n.*1022A>C) c.4358A>C c.3934A>C (p.Arg1312=) c.5131A>C (p.Arg1711=) c.5128A>C (p.Arg1710=) c.5083A>C (p.Arg1695=) c.4207A>C (p.Arg1403=) c.3976A>C (p.Arg1326=) | |
| 10 | g.94293561A>G | CA377640633 | PLCE1 | c.4165A>G (p.Arg1389Gly) c.*1632A>G (n.*1632A>G) n.1824A>G n.508A>G c.*373A>G (n.*373A>G) c.4117A>G (p.Arg1373Gly) n.9297A>G n.2762A>G c.5036-4818A>G (n.5036-4818A>G) c.5041A>G (p.Arg1681Gly) c.5089A>G (p.Arg1697Gly) c.4063A>G (p.Arg1355Gly) c.3644A>G c.3205A>G (p.Arg1069Gly) c.*1022A>G (n.*1022A>G) c.4358A>G c.3934A>G (p.Arg1312Gly) c.5131A>G (p.Arg1711Gly) c.5128A>G (p.Arg1710Gly) c.5083A>G (p.Arg1695Gly) c.4207A>G (p.Arg1403Gly) c.3976A>G (p.Arg1326Gly) | |
| 10 | g.94293561A>T | CA377640635 | PLCE1 | c.4165A>T (p.Arg1389Trp) c.*1632A>T (n.*1632A>T) n.1824A>T n.508A>T c.*373A>T (n.*373A>T) c.4117A>T (p.Arg1373Trp) n.9297A>T n.2762A>T c.5036-4818A>T (n.5036-4818A>T) c.5041A>T (p.Arg1681Trp) c.5089A>T (p.Arg1697Trp) c.4063A>T (p.Arg1355Trp) c.3644A>T c.3205A>T (p.Arg1069Trp) c.*1022A>T (n.*1022A>T) c.4358A>T c.3934A>T (p.Arg1312Trp) c.5131A>T (p.Arg1711Trp) c.5128A>T (p.Arg1710Trp) c.5083A>T (p.Arg1695Trp) c.4207A>T (p.Arg1403Trp) c.3976A>T (p.Arg1326Trp) | |
| 10 | g.94293562G>A | CA211596311 | PLCE1 | c.4166G>A (p.Arg1389Lys) c.*1633G>A (n.*1633G>A) n.1825G>A n.509G>A c.*374G>A (n.*374G>A) c.4118G>A (p.Arg1373Lys) n.9298G>A n.2763G>A c.5036-4817G>A (n.5036-4817G>A) c.5042G>A (p.Arg1681Lys) c.5090G>A (p.Arg1697Lys) c.4064G>A (p.Arg1355Lys) c.3645G>A c.3206G>A (p.Arg1069Lys) c.*1023G>A (n.*1023G>A) c.4359G>A c.3935G>A (p.Arg1312Lys) c.5132G>A (p.Arg1711Lys) c.5129G>A (p.Arg1710Lys) c.5084G>A (p.Arg1695Lys) c.4208G>A (p.Arg1403Lys) c.3977G>A (p.Arg1326Lys) | dbSNP gnomAD v4 |
| 10 | g.94293562G>C | CA377640638 | PLCE1 | c.4166G>C (p.Arg1389Thr) c.*1633G>C (n.*1633G>C) n.1825G>C n.509G>C c.*374G>C (n.*374G>C) c.4118G>C (p.Arg1373Thr) n.9298G>C n.2763G>C c.5036-4817G>C (n.5036-4817G>C) c.5042G>C (p.Arg1681Thr) c.5090G>C (p.Arg1697Thr) c.4064G>C (p.Arg1355Thr) c.3645G>C c.3206G>C (p.Arg1069Thr) c.*1023G>C (n.*1023G>C) c.4359G>C c.3935G>C (p.Arg1312Thr) c.5132G>C (p.Arg1711Thr) c.5129G>C (p.Arg1710Thr) c.5084G>C (p.Arg1695Thr) c.4208G>C (p.Arg1403Thr) c.3977G>C (p.Arg1326Thr) | |
| 10 | g.94293562G= | CA1928996189 | PLCE1 | c.4166G= (p.Arg1389=) c.*1633G= (n.*1633G=) n.1825G= n.509G= c.*374G= (n.*374G=) c.4118G= (p.Arg1373=) n.9298G= n.2763G= c.5036-4817G= (n.5036-4817G=) c.5042G= (p.Arg1681=) c.5090G= (p.Arg1697=) c.4064G= (p.Arg1355=) c.3645G= c.3206G= (p.Arg1069=) c.*1023G= (n.*1023G=) c.4359G= c.3935G= (p.Arg1312=) c.5132G= (p.Arg1711=) c.5129G= (p.Arg1710=) c.5084G= (p.Arg1695=) c.4208G= (p.Arg1403=) c.3977G= (p.Arg1326=) | |
| 10 | g.94293562G>T | CA377640640 | PLCE1 | c.4166G>T (p.Arg1389Met) c.*1633G>T (n.*1633G>T) n.1825G>T n.509G>T c.*374G>T (n.*374G>T) c.4118G>T (p.Arg1373Met) n.9298G>T n.2763G>T c.5036-4817G>T (n.5036-4817G>T) c.5042G>T (p.Arg1681Met) c.5090G>T (p.Arg1697Met) c.4064G>T (p.Arg1355Met) c.3645G>T c.3206G>T (p.Arg1069Met) c.*1023G>T (n.*1023G>T) c.4359G>T c.3935G>T (p.Arg1312Met) c.5132G>T (p.Arg1711Met) c.5129G>T (p.Arg1710Met) c.5084G>T (p.Arg1695Met) c.4208G>T (p.Arg1403Met) c.3977G>T (p.Arg1326Met) | |
| 10 | g.94293563G>A | CA470807501 | PLCE1 | c.4167G>A (p.Arg1389=) c.*1634G>A (n.*1634G>A) n.1826G>A n.510G>A c.*375G>A (n.*375G>A) c.4119G>A (p.Arg1373=) n.9299G>A n.2764G>A c.5036-4816G>A (n.5036-4816G>A) c.5043G>A (p.Arg1681=) c.5091G>A (p.Arg1697=) c.4065G>A (p.Arg1355=) c.3646G>A c.3207G>A (p.Arg1069=) c.*1024G>A (n.*1024G>A) c.4360G>A c.3936G>A (p.Arg1312=) c.5133G>A (p.Arg1711=) c.5130G>A (p.Arg1710=) c.5085G>A (p.Arg1695=) c.4209G>A (p.Arg1403=) c.3978G>A (p.Arg1326=) | |
| 10 | g.94293563G>C | CA377640642 | PLCE1 | c.4167G>C (p.Arg1389Ser) c.*1634G>C (n.*1634G>C) n.1826G>C n.510G>C c.*375G>C (n.*375G>C) c.4119G>C (p.Arg1373Ser) n.9299G>C n.2764G>C c.5036-4816G>C (n.5036-4816G>C) c.5043G>C (p.Arg1681Ser) c.5091G>C (p.Arg1697Ser) c.4065G>C (p.Arg1355Ser) c.3646G>C c.3207G>C (p.Arg1069Ser) c.*1024G>C (n.*1024G>C) c.4360G>C c.3936G>C (p.Arg1312Ser) c.5133G>C (p.Arg1711Ser) c.5130G>C (p.Arg1710Ser) c.5085G>C (p.Arg1695Ser) c.4209G>C (p.Arg1403Ser) c.3978G>C (p.Arg1326Ser) | |
| 10 | g.94293563G>T | CA377640643 | PLCE1 | c.4167G>T (p.Arg1389Ser) c.*1634G>T (n.*1634G>T) n.1826G>T n.510G>T c.*375G>T (n.*375G>T) c.4119G>T (p.Arg1373Ser) n.9299G>T n.2764G>T c.5036-4816G>T (n.5036-4816G>T) c.5043G>T (p.Arg1681Ser) c.5091G>T (p.Arg1697Ser) c.4065G>T (p.Arg1355Ser) c.3646G>T c.3207G>T (p.Arg1069Ser) c.*1024G>T (n.*1024G>T) c.4360G>T c.3936G>T (p.Arg1312Ser) c.5133G>T (p.Arg1711Ser) c.5130G>T (p.Arg1710Ser) c.5085G>T (p.Arg1695Ser) c.4209G>T (p.Arg1403Ser) c.3978G>T (p.Arg1326Ser) | gnomAD v4 |
| 10 | g.94293564A>C | CA377640646 | PLCE1 | c.4168A>C (p.Lys1390Gln) c.*1635A>C (n.*1635A>C) n.1827A>C n.511A>C c.*376A>C (n.*376A>C) c.4120A>C (p.Lys1374Gln) n.9300A>C n.2765A>C c.5036-4815A>C (n.5036-4815A>C) c.5044A>C (p.Lys1682Gln) c.5092A>C (p.Lys1698Gln) c.4066A>C (p.Lys1356Gln) c.3647A>C c.3208A>C (p.Lys1070Gln) c.*1025A>C (n.*1025A>C) c.4361A>C c.3937A>C (p.Lys1313Gln) c.5134A>C (p.Lys1712Gln) c.5131A>C (p.Lys1711Gln) c.5086A>C (p.Lys1696Gln) c.4210A>C (p.Lys1404Gln) c.3979A>C (p.Lys1327Gln) | |
| 10 | g.94293564A>G | CA377640648 | PLCE1 | c.4168A>G (p.Lys1390Glu) c.*1635A>G (n.*1635A>G) n.1827A>G n.511A>G c.*376A>G (n.*376A>G) c.4120A>G (p.Lys1374Glu) n.9300A>G n.2765A>G c.5036-4815A>G (n.5036-4815A>G) c.5044A>G (p.Lys1682Glu) c.5092A>G (p.Lys1698Glu) c.4066A>G (p.Lys1356Glu) c.3647A>G c.3208A>G (p.Lys1070Glu) c.*1025A>G (n.*1025A>G) c.4361A>G c.3937A>G (p.Lys1313Glu) c.5134A>G (p.Lys1712Glu) c.5131A>G (p.Lys1711Glu) c.5086A>G (p.Lys1696Glu) c.4210A>G (p.Lys1404Glu) c.3979A>G (p.Lys1327Glu) | gnomAD v4 |
| 10 | g.94293564A>T | CA377640650 | PLCE1 | c.4168A>T (p.Lys1390Ter) c.*1635A>T (n.*1635A>T) n.1827A>T n.511A>T c.*376A>T (n.*376A>T) c.4120A>T (p.Lys1374Ter) n.9300A>T n.2765A>T c.5036-4815A>T (n.5036-4815A>T) c.5044A>T (p.Lys1682Ter) c.5092A>T (p.Lys1698Ter) c.4066A>T (p.Lys1356Ter) c.3647A>T c.3208A>T (p.Lys1070Ter) c.*1025A>T (n.*1025A>T) c.4361A>T c.3937A>T (p.Lys1313Ter) c.5134A>T (p.Lys1712Ter) c.5131A>T (p.Lys1711Ter) c.5086A>T (p.Lys1696Ter) c.4210A>T (p.Lys1404Ter) c.3979A>T (p.Lys1327Ter) | |
| 10 | g.94293565A>C | CA377640653 | PLCE1 | c.4169A>C (p.Lys1390Thr) c.*1636A>C (n.*1636A>C) n.1828A>C n.512A>C c.*377A>C (n.*377A>C) c.4121A>C (p.Lys1374Thr) n.9301A>C n.2766A>C c.5036-4814A>C (n.5036-4814A>C) c.5045A>C (p.Lys1682Thr) c.5093A>C (p.Lys1698Thr) c.4067A>C (p.Lys1356Thr) c.3648A>C c.3209A>C (p.Lys1070Thr) c.*1026A>C (n.*1026A>C) c.4362A>C c.3938A>C (p.Lys1313Thr) c.5135A>C (p.Lys1712Thr) c.5132A>C (p.Lys1711Thr) c.5087A>C (p.Lys1696Thr) c.4211A>C (p.Lys1404Thr) c.3980A>C (p.Lys1327Thr) | |
| 10 | g.94293565A>G | CA377640654 | PLCE1 | c.4169A>G (p.Lys1390Arg) c.*1636A>G (n.*1636A>G) n.1828A>G n.512A>G c.*377A>G (n.*377A>G) c.4121A>G (p.Lys1374Arg) n.9301A>G n.2766A>G c.5036-4814A>G (n.5036-4814A>G) c.5045A>G (p.Lys1682Arg) c.5093A>G (p.Lys1698Arg) c.4067A>G (p.Lys1356Arg) c.3648A>G c.3209A>G (p.Lys1070Arg) c.*1026A>G (n.*1026A>G) c.4362A>G c.3938A>G (p.Lys1313Arg) c.5135A>G (p.Lys1712Arg) c.5132A>G (p.Lys1711Arg) c.5087A>G (p.Lys1696Arg) c.4211A>G (p.Lys1404Arg) c.3980A>G (p.Lys1327Arg) | |
| 10 | g.94293565A>T | CA377640656 | PLCE1 | c.4169A>T (p.Lys1390Met) c.*1636A>T (n.*1636A>T) n.1828A>T n.512A>T c.*377A>T (n.*377A>T) c.4121A>T (p.Lys1374Met) n.9301A>T n.2766A>T c.5036-4814A>T (n.5036-4814A>T) c.5045A>T (p.Lys1682Met) c.5093A>T (p.Lys1698Met) c.4067A>T (p.Lys1356Met) c.3648A>T c.3209A>T (p.Lys1070Met) c.*1026A>T (n.*1026A>T) c.4362A>T c.3938A>T (p.Lys1313Met) c.5135A>T (p.Lys1712Met) c.5132A>T (p.Lys1711Met) c.5087A>T (p.Lys1696Met) c.4211A>T (p.Lys1404Met) c.3980A>T (p.Lys1327Met) | |
| 10 | g.94293566G>A | CA470807508 | PLCE1 | c.4170G>A (p.Lys1390=) c.*1637G>A (n.*1637G>A) n.1829G>A n.513G>A c.*378G>A (n.*378G>A) c.4122G>A (p.Lys1374=) n.9302G>A n.2767G>A c.5036-4813G>A (n.5036-4813G>A) c.5046G>A (p.Lys1682=) c.5094G>A (p.Lys1698=) c.4068G>A (p.Lys1356=) c.3649G>A c.3210G>A (p.Lys1070=) c.*1027G>A (n.*1027G>A) c.4363G>A c.3939G>A (p.Lys1313=) c.5136G>A (p.Lys1712=) c.5133G>A (p.Lys1711=) c.5088G>A (p.Lys1696=) c.4212G>A (p.Lys1404=) c.3981G>A (p.Lys1327=) | |
| 10 | g.94293566G>C | CA377640658 | PLCE1 | c.4170G>C (p.Lys1390Asn) c.*1637G>C (n.*1637G>C) n.1829G>C n.513G>C c.*378G>C (n.*378G>C) c.4122G>C (p.Lys1374Asn) n.9302G>C n.2767G>C c.5036-4813G>C (n.5036-4813G>C) c.5046G>C (p.Lys1682Asn) c.5094G>C (p.Lys1698Asn) c.4068G>C (p.Lys1356Asn) c.3649G>C c.3210G>C (p.Lys1070Asn) c.*1027G>C (n.*1027G>C) c.4363G>C c.3939G>C (p.Lys1313Asn) c.5136G>C (p.Lys1712Asn) c.5133G>C (p.Lys1711Asn) c.5088G>C (p.Lys1696Asn) c.4212G>C (p.Lys1404Asn) c.3981G>C (p.Lys1327Asn) | |
| 10 | g.94293566G>T | CA377640660 | PLCE1 | c.4170G>T (p.Lys1390Asn) c.*1637G>T (n.*1637G>T) n.1829G>T n.513G>T c.*378G>T (n.*378G>T) c.4122G>T (p.Lys1374Asn) n.9302G>T n.2767G>T c.5036-4813G>T (n.5036-4813G>T) c.5046G>T (p.Lys1682Asn) c.5094G>T (p.Lys1698Asn) c.4068G>T (p.Lys1356Asn) c.3649G>T c.3210G>T (p.Lys1070Asn) c.*1027G>T (n.*1027G>T) c.4363G>T c.3939G>T (p.Lys1313Asn) c.5136G>T (p.Lys1712Asn) c.5133G>T (p.Lys1711Asn) c.5088G>T (p.Lys1696Asn) c.4212G>T (p.Lys1404Asn) c.3981G>T (p.Lys1327Asn) | |
| 10 | g.94293567T>A | CA377640661 | PLCE1 | c.4171T>A (p.Ser1391Thr) c.*1638T>A (n.*1638T>A) n.1830T>A n.514T>A c.*379T>A (n.*379T>A) c.4123T>A (p.Ser1375Thr) n.9303T>A n.2768T>A c.5036-4812T>A (n.5036-4812T>A) c.5047T>A (p.Ser1683Thr) c.5095T>A (p.Ser1699Thr) c.4069T>A (p.Ser1357Thr) c.3650T>A c.3211T>A (p.Ser1071Thr) c.*1028T>A (n.*1028T>A) c.4364T>A c.3940T>A (p.Ser1314Thr) c.5137T>A (p.Ser1713Thr) c.5134T>A (p.Ser1712Thr) c.5089T>A (p.Ser1697Thr) c.4213T>A (p.Ser1405Thr) c.3982T>A (p.Ser1328Thr) | |
| 10 | g.94293567T>C | CA377640665 | PLCE1 | c.4171T>C (p.Ser1391Pro) c.*1638T>C (n.*1638T>C) n.1830T>C n.514T>C c.*379T>C (n.*379T>C) c.4123T>C (p.Ser1375Pro) n.9303T>C n.2768T>C c.5036-4812T>C (n.5036-4812T>C) c.5047T>C (p.Ser1683Pro) c.5095T>C (p.Ser1699Pro) c.4069T>C (p.Ser1357Pro) c.3650T>C c.3211T>C (p.Ser1071Pro) c.*1028T>C (n.*1028T>C) c.4364T>C c.3940T>C (p.Ser1314Pro) c.5137T>C (p.Ser1713Pro) c.5134T>C (p.Ser1712Pro) c.5089T>C (p.Ser1697Pro) c.4213T>C (p.Ser1405Pro) c.3982T>C (p.Ser1328Pro) | |
| 10 | g.94293567T>G | CA377640663 | PLCE1 | c.4171T>G (p.Ser1391Ala) c.*1638T>G (n.*1638T>G) n.1830T>G n.514T>G c.*379T>G (n.*379T>G) c.4123T>G (p.Ser1375Ala) n.9303T>G n.2768T>G c.5036-4812T>G (n.5036-4812T>G) c.5047T>G (p.Ser1683Ala) c.5095T>G (p.Ser1699Ala) c.4069T>G (p.Ser1357Ala) c.3650T>G c.3211T>G (p.Ser1071Ala) c.*1028T>G (n.*1028T>G) c.4364T>G c.3940T>G (p.Ser1314Ala) c.5137T>G (p.Ser1713Ala) c.5134T>G (p.Ser1712Ala) c.5089T>G (p.Ser1697Ala) c.4213T>G (p.Ser1405Ala) c.3982T>G (p.Ser1328Ala) | |
| 10 | g.94293568C>A | CA377640667 | PLCE1 | c.4172C>A (p.Ser1391Tyr) c.*1639C>A (n.*1639C>A) n.1831C>A n.515C>A c.*380C>A (n.*380C>A) c.4124C>A (p.Ser1375Tyr) n.9304C>A n.2769C>A c.5036-4811C>A (n.5036-4811C>A) c.5048C>A (p.Ser1683Tyr) c.5096C>A (p.Ser1699Tyr) c.4070C>A (p.Ser1357Tyr) c.3651C>A c.3212C>A (p.Ser1071Tyr) c.*1029C>A (n.*1029C>A) c.4365C>A c.3941C>A (p.Ser1314Tyr) c.5138C>A (p.Ser1713Tyr) c.5135C>A (p.Ser1712Tyr) c.5090C>A (p.Ser1697Tyr) c.4214C>A (p.Ser1405Tyr) c.3983C>A (p.Ser1328Tyr) | |
| 10 | g.94293568C>G | CA377640669 | PLCE1 | c.4172C>G (p.Ser1391Cys) c.*1639C>G (n.*1639C>G) n.1831C>G n.515C>G c.*380C>G (n.*380C>G) c.4124C>G (p.Ser1375Cys) n.9304C>G n.2769C>G c.5036-4811C>G (n.5036-4811C>G) c.5048C>G (p.Ser1683Cys) c.5096C>G (p.Ser1699Cys) c.4070C>G (p.Ser1357Cys) c.3651C>G c.3212C>G (p.Ser1071Cys) c.*1029C>G (n.*1029C>G) c.4365C>G c.3941C>G (p.Ser1314Cys) c.5138C>G (p.Ser1713Cys) c.5135C>G (p.Ser1712Cys) c.5090C>G (p.Ser1697Cys) c.4214C>G (p.Ser1405Cys) c.3983C>G (p.Ser1328Cys) | |
| 10 | g.94293568C>T | CA377640671 | PLCE1 | c.4172C>T (p.Ser1391Phe) c.*1639C>T (n.*1639C>T) n.1831C>T n.515C>T c.*380C>T (n.*380C>T) c.4124C>T (p.Ser1375Phe) n.9304C>T n.2769C>T c.5036-4811C>T (n.5036-4811C>T) c.5048C>T (p.Ser1683Phe) c.5096C>T (p.Ser1699Phe) c.4070C>T (p.Ser1357Phe) c.3651C>T c.3212C>T (p.Ser1071Phe) c.*1029C>T (n.*1029C>T) c.4365C>T c.3941C>T (p.Ser1314Phe) c.5138C>T (p.Ser1713Phe) c.5135C>T (p.Ser1712Phe) c.5090C>T (p.Ser1697Phe) c.4214C>T (p.Ser1405Phe) c.3983C>T (p.Ser1328Phe) | |
| 10 | g.94293569C>A | CA470807515 | PLCE1 | c.4173C>A (p.Ser1391=) c.*1640C>A (n.*1640C>A) n.1832C>A n.516C>A c.*381C>A (n.*381C>A) c.4125C>A (p.Ser1375=) n.9305C>A n.2770C>A c.5036-4810C>A (n.5036-4810C>A) c.5049C>A (p.Ser1683=) c.5097C>A (p.Ser1699=) c.4071C>A (p.Ser1357=) c.3652C>A c.3213C>A (p.Ser1071=) c.*1030C>A (n.*1030C>A) c.4366C>A c.3942C>A (p.Ser1314=) c.5139C>A (p.Ser1713=) c.5136C>A (p.Ser1712=) c.5091C>A (p.Ser1697=) c.4215C>A (p.Ser1405=) c.3984C>A (p.Ser1328=) | |
| 10 | g.94293569C= | CA1928996190 | PLCE1 | c.4173C= (p.Ser1391=) c.*1640C= (n.*1640C=) n.1832C= n.516C= c.*381C= (n.*381C=) c.4125C= (p.Ser1375=) n.9305C= n.2770C= c.5036-4810C= (n.5036-4810C=) c.5049C= (p.Ser1683=) c.5097C= (p.Ser1699=) c.4071C= (p.Ser1357=) c.3652C= c.3213C= (p.Ser1071=) c.*1030C= (n.*1030C=) c.4366C= c.3942C= (p.Ser1314=) c.5139C= (p.Ser1713=) c.5136C= (p.Ser1712=) c.5091C= (p.Ser1697=) c.4215C= (p.Ser1405=) c.3984C= (p.Ser1328=) | |
| 10 | g.94293569C>G | CA470807517 | PLCE1 | c.4173C>G (p.Ser1391=) c.*1640C>G (n.*1640C>G) n.1832C>G n.516C>G c.*381C>G (n.*381C>G) c.4125C>G (p.Ser1375=) n.9305C>G n.2770C>G c.5036-4810C>G (n.5036-4810C>G) c.5049C>G (p.Ser1683=) c.5097C>G (p.Ser1699=) c.4071C>G (p.Ser1357=) c.3652C>G c.3213C>G (p.Ser1071=) c.*1030C>G (n.*1030C>G) c.4366C>G c.3942C>G (p.Ser1314=) c.5139C>G (p.Ser1713=) c.5136C>G (p.Ser1712=) c.5091C>G (p.Ser1697=) c.4215C>G (p.Ser1405=) c.3984C>G (p.Ser1328=) | |
| 10 | g.94293569C>T | CA470807519 | PLCE1 | c.4173C>T (p.Ser1391=) c.*1640C>T (n.*1640C>T) n.1832C>T n.516C>T c.*381C>T (n.*381C>T) c.4125C>T (p.Ser1375=) n.9305C>T n.2770C>T c.5036-4810C>T (n.5036-4810C>T) c.5049C>T (p.Ser1683=) c.5097C>T (p.Ser1699=) c.4071C>T (p.Ser1357=) c.3652C>T c.3213C>T (p.Ser1071=) c.*1030C>T (n.*1030C>T) c.4366C>T c.3942C>T (p.Ser1314=) c.5139C>T (p.Ser1713=) c.5136C>T (p.Ser1712=) c.5091C>T (p.Ser1697=) c.4215C>T (p.Ser1405=) c.3984C>T (p.Ser1328=) | dbSNP |
| 10 | g.94293570A>C | CA377640673 | PLCE1 | c.4174A>C (p.Ile1392Leu) c.*1641A>C (n.*1641A>C) n.1833A>C n.517A>C c.*382A>C (n.*382A>C) c.4126A>C (p.Ile1376Leu) n.9306A>C n.2771A>C c.5036-4809A>C (n.5036-4809A>C) c.5050A>C (p.Ile1684Leu) c.5098A>C (p.Ile1700Leu) c.4072A>C (p.Ile1358Leu) c.3653A>C c.3214A>C (p.Ile1072Leu) c.*1031A>C (n.*1031A>C) c.4367A>C c.3943A>C (p.Ile1315Leu) c.5140A>C (p.Ile1714Leu) c.5137A>C (p.Ile1713Leu) c.5092A>C (p.Ile1698Leu) c.4216A>C (p.Ile1406Leu) c.3985A>C (p.Ile1329Leu) | gnomAD v4 |
| 10 | g.94293570A>G | CA377640674 | PLCE1 | c.4174A>G (p.Ile1392Val) c.*1641A>G (n.*1641A>G) n.1833A>G n.517A>G c.*382A>G (n.*382A>G) c.4126A>G (p.Ile1376Val) n.9306A>G n.2771A>G c.5036-4809A>G (n.5036-4809A>G) c.5050A>G (p.Ile1684Val) c.5098A>G (p.Ile1700Val) c.4072A>G (p.Ile1358Val) c.3653A>G c.3214A>G (p.Ile1072Val) c.*1031A>G (n.*1031A>G) c.4367A>G c.3943A>G (p.Ile1315Val) c.5140A>G (p.Ile1714Val) c.5137A>G (p.Ile1713Val) c.5092A>G (p.Ile1698Val) c.4216A>G (p.Ile1406Val) c.3985A>G (p.Ile1329Val) | |
| 10 | g.94293570A>T | CA377640676 | PLCE1 | c.4174A>T (p.Ile1392Phe) c.*1641A>T (n.*1641A>T) n.1833A>T n.517A>T c.*382A>T (n.*382A>T) c.4126A>T (p.Ile1376Phe) n.9306A>T n.2771A>T c.5036-4809A>T (n.5036-4809A>T) c.5050A>T (p.Ile1684Phe) c.5098A>T (p.Ile1700Phe) c.4072A>T (p.Ile1358Phe) c.3653A>T c.3214A>T (p.Ile1072Phe) c.*1031A>T (n.*1031A>T) c.4367A>T c.3943A>T (p.Ile1315Phe) c.5140A>T (p.Ile1714Phe) c.5137A>T (p.Ile1713Phe) c.5092A>T (p.Ile1698Phe) c.4216A>T (p.Ile1406Phe) c.3985A>T (p.Ile1329Phe) | |
| 10 | g.94293571T>A | CA377640678 | PLCE1 | c.4175T>A (p.Ile1392Asn) c.*1642T>A (n.*1642T>A) n.1834T>A n.518T>A c.*383T>A (n.*383T>A) c.4127T>A (p.Ile1376Asn) n.9307T>A n.2772T>A c.5036-4808T>A (n.5036-4808T>A) c.5051T>A (p.Ile1684Asn) c.5099T>A (p.Ile1700Asn) c.4073T>A (p.Ile1358Asn) c.3654T>A c.3215T>A (p.Ile1072Asn) c.*1032T>A (n.*1032T>A) c.4368T>A c.3944T>A (p.Ile1315Asn) c.5141T>A (p.Ile1714Asn) c.5138T>A (p.Ile1713Asn) c.5093T>A (p.Ile1698Asn) c.4217T>A (p.Ile1406Asn) c.3986T>A (p.Ile1329Asn) | |
| 10 | g.94293571T>C | CA10632925 | PLCE1 | c.4175T>C (p.Ile1392Thr) c.*1642T>C (n.*1642T>C) n.1834T>C n.518T>C c.*383T>C (n.*383T>C) c.4127T>C (p.Ile1376Thr) n.9307T>C n.2772T>C c.5036-4808T>C (n.5036-4808T>C) c.5051T>C (p.Ile1684Thr) c.5099T>C (p.Ile1700Thr) c.4073T>C (p.Ile1358Thr) c.3654T>C c.3215T>C (p.Ile1072Thr) c.*1032T>C (n.*1032T>C) c.4368T>C c.3944T>C (p.Ile1315Thr) c.5141T>C (p.Ile1714Thr) c.5138T>C (p.Ile1713Thr) c.5093T>C (p.Ile1698Thr) c.4217T>C (p.Ile1406Thr) c.3986T>C (p.Ile1329Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94293571T>G | CA377640681 | PLCE1 | c.4175T>G (p.Ile1392Ser) c.*1642T>G (n.*1642T>G) n.1834T>G n.518T>G c.*383T>G (n.*383T>G) c.4127T>G (p.Ile1376Ser) n.9307T>G n.2772T>G c.5036-4808T>G (n.5036-4808T>G) c.5051T>G (p.Ile1684Ser) c.5099T>G (p.Ile1700Ser) c.4073T>G (p.Ile1358Ser) c.3654T>G c.3215T>G (p.Ile1072Ser) c.*1032T>G (n.*1032T>G) c.4368T>G c.3944T>G (p.Ile1315Ser) c.5141T>G (p.Ile1714Ser) c.5138T>G (p.Ile1713Ser) c.5093T>G (p.Ile1698Ser) c.4217T>G (p.Ile1406Ser) c.3986T>G (p.Ile1329Ser) | |
| 10 | g.94293571T= | CA1928996191 | PLCE1 | c.4175T= (p.Ile1392=) c.*1642T= (n.*1642T=) n.1834T= n.518T= c.*383T= (n.*383T=) c.4127T= (p.Ile1376=) n.9307T= n.2772T= c.5036-4808T= (n.5036-4808T=) c.5051T= (p.Ile1684=) c.5099T= (p.Ile1700=) c.4073T= (p.Ile1358=) c.3654T= c.3215T= (p.Ile1072=) c.*1032T= (n.*1032T=) c.4368T= c.3944T= (p.Ile1315=) c.5141T= (p.Ile1714=) c.5138T= (p.Ile1713=) c.5093T= (p.Ile1698=) c.4217T= (p.Ile1406=) c.3986T= (p.Ile1329=) | |
| 10 | g.94293572T>A | CA470807525 | PLCE1 | c.4176T>A (p.Ile1392=) c.*1643T>A (n.*1643T>A) n.1835T>A n.519T>A c.*384T>A (n.*384T>A) c.4128T>A (p.Ile1376=) n.9308T>A n.2773T>A c.5036-4807T>A (n.5036-4807T>A) c.5052T>A (p.Ile1684=) c.5100T>A (p.Ile1700=) c.4074T>A (p.Ile1358=) c.3655T>A c.3216T>A (p.Ile1072=) c.*1033T>A (n.*1033T>A) c.4369T>A c.3945T>A (p.Ile1315=) c.5142T>A (p.Ile1714=) c.5139T>A (p.Ile1713=) c.5094T>A (p.Ile1698=) c.4218T>A (p.Ile1406=) c.3987T>A (p.Ile1329=) | |
| 10 | g.94293572T>C | CA470807527 | PLCE1 | c.4176T>C (p.Ile1392=) c.*1643T>C (n.*1643T>C) n.1835T>C n.519T>C c.*384T>C (n.*384T>C) c.4128T>C (p.Ile1376=) n.9308T>C n.2773T>C c.5036-4807T>C (n.5036-4807T>C) c.5052T>C (p.Ile1684=) c.5100T>C (p.Ile1700=) c.4074T>C (p.Ile1358=) c.3655T>C c.3216T>C (p.Ile1072=) c.*1033T>C (n.*1033T>C) c.4369T>C c.3945T>C (p.Ile1315=) c.5142T>C (p.Ile1714=) c.5139T>C (p.Ile1713=) c.5094T>C (p.Ile1698=) c.4218T>C (p.Ile1406=) c.3987T>C (p.Ile1329=) | |
| 10 | g.94293572T>G | CA377640683 | PLCE1 | c.4176T>G (p.Ile1392Met) c.*1643T>G (n.*1643T>G) n.1835T>G n.519T>G c.*384T>G (n.*384T>G) c.4128T>G (p.Ile1376Met) n.9308T>G n.2773T>G c.5036-4807T>G (n.5036-4807T>G) c.5052T>G (p.Ile1684Met) c.5100T>G (p.Ile1700Met) c.4074T>G (p.Ile1358Met) c.3655T>G c.3216T>G (p.Ile1072Met) c.*1033T>G (n.*1033T>G) c.4369T>G c.3945T>G (p.Ile1315Met) c.5142T>G (p.Ile1714Met) c.5139T>G (p.Ile1713Met) c.5094T>G (p.Ile1698Met) c.4218T>G (p.Ile1406Met) c.3987T>G (p.Ile1329Met) | COSMIC COSMIC COSMIC COSMIC |
| 10 | g.94293573T>A | CA377640685 | PLCE1 | c.4177T>A (p.Phe1393Ile) c.*1644T>A (n.*1644T>A) n.1836T>A n.520T>A c.*385T>A (n.*385T>A) c.4129T>A (p.Phe1377Ile) n.9309T>A n.2774T>A c.5036-4806T>A (n.5036-4806T>A) c.5053T>A (p.Phe1685Ile) c.5101T>A (p.Phe1701Ile) c.4075T>A (p.Phe1359Ile) c.3656T>A c.3217T>A (p.Phe1073Ile) c.*1034T>A (n.*1034T>A) c.4370T>A c.3946T>A (p.Phe1316Ile) c.5143T>A (p.Phe1715Ile) c.5140T>A (p.Phe1714Ile) c.5095T>A (p.Phe1699Ile) c.4219T>A (p.Phe1407Ile) c.3988T>A (p.Phe1330Ile) | |
| 10 | g.94293573T>C | CA377640687 | PLCE1 | c.4177T>C (p.Phe1393Leu) c.*1644T>C (n.*1644T>C) n.1836T>C n.520T>C c.*385T>C (n.*385T>C) c.4129T>C (p.Phe1377Leu) n.9309T>C n.2774T>C c.5036-4806T>C (n.5036-4806T>C) c.5053T>C (p.Phe1685Leu) c.5101T>C (p.Phe1701Leu) c.4075T>C (p.Phe1359Leu) c.3656T>C c.3217T>C (p.Phe1073Leu) c.*1034T>C (n.*1034T>C) c.4370T>C c.3946T>C (p.Phe1316Leu) c.5143T>C (p.Phe1715Leu) c.5140T>C (p.Phe1714Leu) c.5095T>C (p.Phe1699Leu) c.4219T>C (p.Phe1407Leu) c.3988T>C (p.Phe1330Leu) | |
| 10 | g.94293573T>G | CA377640689 | PLCE1 | c.4177T>G (p.Phe1393Val) c.*1644T>G (n.*1644T>G) n.1836T>G n.520T>G c.*385T>G (n.*385T>G) c.4129T>G (p.Phe1377Val) n.9309T>G n.2774T>G c.5036-4806T>G (n.5036-4806T>G) c.5053T>G (p.Phe1685Val) c.5101T>G (p.Phe1701Val) c.4075T>G (p.Phe1359Val) c.3656T>G c.3217T>G (p.Phe1073Val) c.*1034T>G (n.*1034T>G) c.4370T>G c.3946T>G (p.Phe1316Val) c.5143T>G (p.Phe1715Val) c.5140T>G (p.Phe1714Val) c.5095T>G (p.Phe1699Val) c.4219T>G (p.Phe1407Val) c.3988T>G (p.Phe1330Val) | |
| 10 | g.94293574T>A | CA377640695 | PLCE1 | c.4178T>A (p.Phe1393Tyr) c.*1645T>A (n.*1645T>A) n.1837T>A n.521T>A c.*386T>A (n.*386T>A) c.4130T>A (p.Phe1377Tyr) n.9310T>A n.2775T>A c.5036-4805T>A (n.5036-4805T>A) c.5054T>A (p.Phe1685Tyr) c.5102T>A (p.Phe1701Tyr) c.4076T>A (p.Phe1359Tyr) c.3657T>A c.3218T>A (p.Phe1073Tyr) c.*1035T>A (n.*1035T>A) c.4371T>A c.3947T>A (p.Phe1316Tyr) c.5144T>A (p.Phe1715Tyr) c.5141T>A (p.Phe1714Tyr) c.5096T>A (p.Phe1699Tyr) c.4220T>A (p.Phe1407Tyr) c.3989T>A (p.Phe1330Tyr) | |
| 10 | g.94293574T>C | CA377640691 | PLCE1 | c.4178T>C (p.Phe1393Ser) c.*1645T>C (n.*1645T>C) n.1837T>C n.521T>C c.*386T>C (n.*386T>C) c.4130T>C (p.Phe1377Ser) n.9310T>C n.2775T>C c.5036-4805T>C (n.5036-4805T>C) c.5054T>C (p.Phe1685Ser) c.5102T>C (p.Phe1701Ser) c.4076T>C (p.Phe1359Ser) c.3657T>C c.3218T>C (p.Phe1073Ser) c.*1035T>C (n.*1035T>C) c.4371T>C c.3947T>C (p.Phe1316Ser) c.5144T>C (p.Phe1715Ser) c.5141T>C (p.Phe1714Ser) c.5096T>C (p.Phe1699Ser) c.4220T>C (p.Phe1407Ser) c.3989T>C (p.Phe1330Ser) | ClinVar dbSNP |