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.94293550A>C | CA377640580 | PLCE1 | c.4154A>C (p.Glu1385Ala) c.*1621A>C (n.*1621A>C) n.1813A>C n.497A>C c.*362A>C (n.*362A>C) c.4106A>C (p.Glu1369Ala) n.9286A>C n.2751A>C c.5036-4829A>C (n.5036-4829A>C) c.5030A>C (p.Glu1677Ala) c.5078A>C (p.Glu1693Ala) c.4052A>C (p.Glu1351Ala) c.3633A>C c.3194A>C (p.Glu1065Ala) c.*1011A>C (n.*1011A>C) c.4347A>C c.3923A>C (p.Glu1308Ala) c.5120A>C (p.Glu1707Ala) c.5117A>C (p.Glu1706Ala) c.5072A>C (p.Glu1691Ala) c.4196A>C (p.Glu1399Ala) c.3965A>C (p.Glu1322Ala) | gnomAD v4 |
| 10 | g.94293550A>G | CA377640582 | PLCE1 | c.4154A>G (p.Glu1385Gly) c.*1621A>G (n.*1621A>G) n.1813A>G n.497A>G c.*362A>G (n.*362A>G) c.4106A>G (p.Glu1369Gly) n.9286A>G n.2751A>G c.5036-4829A>G (n.5036-4829A>G) c.5030A>G (p.Glu1677Gly) c.5078A>G (p.Glu1693Gly) c.4052A>G (p.Glu1351Gly) c.3633A>G c.3194A>G (p.Glu1065Gly) c.*1011A>G (n.*1011A>G) c.4347A>G c.3923A>G (p.Glu1308Gly) c.5120A>G (p.Glu1707Gly) c.5117A>G (p.Glu1706Gly) c.5072A>G (p.Glu1691Gly) c.4196A>G (p.Glu1399Gly) c.3965A>G (p.Glu1322Gly) | |
| 10 | g.94293550A>T | CA377640584 | PLCE1 | c.4154A>T (p.Glu1385Val) c.*1621A>T (n.*1621A>T) n.1813A>T n.497A>T c.*362A>T (n.*362A>T) c.4106A>T (p.Glu1369Val) n.9286A>T n.2751A>T c.5036-4829A>T (n.5036-4829A>T) c.5030A>T (p.Glu1677Val) c.5078A>T (p.Glu1693Val) c.4052A>T (p.Glu1351Val) c.3633A>T c.3194A>T (p.Glu1065Val) c.*1011A>T (n.*1011A>T) c.4347A>T c.3923A>T (p.Glu1308Val) c.5120A>T (p.Glu1707Val) c.5117A>T (p.Glu1706Val) c.5072A>T (p.Glu1691Val) c.4196A>T (p.Glu1399Val) c.3965A>T (p.Glu1322Val) | |
| 10 | g.94293552del | CA2527787106 | PLCE1 | c.4156del (p.Arg1386GlyfsTer15) c.*1623del (n.*1623del) n.1815del n.499del c.*364del (n.*364del) c.4108del (p.Arg1370GlyfsTer15) n.9288del n.2753del c.5036-4827del (n.5036-4827del) c.5032del (p.Arg1678GlyfsTer15) c.5080del (p.Arg1694GlyfsTer15) c.4054del (p.Arg1352GlyfsTer15) c.3635del c.3196del (p.Arg1066GlyfsTer15) c.*1013del (n.*1013del) c.4349del c.3925del (p.Arg1309GlyfsTer15) c.5122del (p.Arg1708GlyfsTer15) c.5119del (p.Arg1707GlyfsTer15) c.5074del (p.Arg1692GlyfsTer15) c.4198del (p.Arg1400GlyfsTer15) c.3967del (p.Arg1323GlyfsTer15) | |
| 10 | g.94293551A>C | CA377640586 | PLCE1 | c.4155A>C (p.Glu1385Asp) c.*1622A>C (n.*1622A>C) n.1814A>C n.498A>C c.*363A>C (n.*363A>C) c.4107A>C (p.Glu1369Asp) n.9287A>C n.2752A>C c.5036-4828A>C (n.5036-4828A>C) c.5031A>C (p.Glu1677Asp) c.5079A>C (p.Glu1693Asp) c.4053A>C (p.Glu1351Asp) c.3634A>C c.3195A>C (p.Glu1065Asp) c.*1012A>C (n.*1012A>C) c.4348A>C c.3924A>C (p.Glu1308Asp) c.5121A>C (p.Glu1707Asp) c.5118A>C (p.Glu1706Asp) c.5073A>C (p.Glu1691Asp) c.4197A>C (p.Glu1399Asp) c.3966A>C (p.Glu1322Asp) | |
| 10 | g.94293551A>G | CA470807468 | PLCE1 | c.4155A>G (p.Glu1385=) c.*1622A>G (n.*1622A>G) n.1814A>G n.498A>G c.*363A>G (n.*363A>G) c.4107A>G (p.Glu1369=) n.9287A>G n.2752A>G c.5036-4828A>G (n.5036-4828A>G) c.5031A>G (p.Glu1677=) c.5079A>G (p.Glu1693=) c.4053A>G (p.Glu1351=) c.3634A>G c.3195A>G (p.Glu1065=) c.*1012A>G (n.*1012A>G) c.4348A>G c.3924A>G (p.Glu1308=) c.5121A>G (p.Glu1707=) c.5118A>G (p.Glu1706=) c.5073A>G (p.Glu1691=) c.4197A>G (p.Glu1399=) c.3966A>G (p.Glu1322=) | |
| 10 | g.94293551A>T | CA377640588 | PLCE1 | c.4155A>T (p.Glu1385Asp) c.*1622A>T (n.*1622A>T) n.1814A>T n.498A>T c.*363A>T (n.*363A>T) c.4107A>T (p.Glu1369Asp) n.9287A>T n.2752A>T c.5036-4828A>T (n.5036-4828A>T) c.5031A>T (p.Glu1677Asp) c.5079A>T (p.Glu1693Asp) c.4053A>T (p.Glu1351Asp) c.3634A>T c.3195A>T (p.Glu1065Asp) c.*1012A>T (n.*1012A>T) c.4348A>T c.3924A>T (p.Glu1308Asp) c.5121A>T (p.Glu1707Asp) c.5118A>T (p.Glu1706Asp) c.5073A>T (p.Glu1691Asp) c.4197A>T (p.Glu1399Asp) c.3966A>T (p.Glu1322Asp) | |
| 10 | g.94293552A>C | CA470807472 | PLCE1 | c.4156A>C (p.Arg1386=) c.*1623A>C (n.*1623A>C) n.1815A>C n.499A>C c.*364A>C (n.*364A>C) c.4108A>C (p.Arg1370=) n.9288A>C n.2753A>C c.5036-4827A>C (n.5036-4827A>C) c.5032A>C (p.Arg1678=) c.5080A>C (p.Arg1694=) c.4054A>C (p.Arg1352=) c.3635A>C c.3196A>C (p.Arg1066=) c.*1013A>C (n.*1013A>C) c.4349A>C c.3925A>C (p.Arg1309=) c.5122A>C (p.Arg1708=) c.5119A>C (p.Arg1707=) c.5074A>C (p.Arg1692=) c.4198A>C (p.Arg1400=) c.3967A>C (p.Arg1323=) | |
| 10 | g.94293552A>G | CA377640590 | PLCE1 | c.4156A>G (p.Arg1386Gly) c.*1623A>G (n.*1623A>G) n.1815A>G n.499A>G c.*364A>G (n.*364A>G) c.4108A>G (p.Arg1370Gly) n.9288A>G n.2753A>G c.5036-4827A>G (n.5036-4827A>G) c.5032A>G (p.Arg1678Gly) c.5080A>G (p.Arg1694Gly) c.4054A>G (p.Arg1352Gly) c.3635A>G c.3196A>G (p.Arg1066Gly) c.*1013A>G (n.*1013A>G) c.4349A>G c.3925A>G (p.Arg1309Gly) c.5122A>G (p.Arg1708Gly) c.5119A>G (p.Arg1707Gly) c.5074A>G (p.Arg1692Gly) c.4198A>G (p.Arg1400Gly) c.3967A>G (p.Arg1323Gly) | |
| 10 | g.94293552A>T | CA377640591 | PLCE1 | c.4156A>T (p.Arg1386Trp) c.*1623A>T (n.*1623A>T) n.1815A>T n.499A>T c.*364A>T (n.*364A>T) c.4108A>T (p.Arg1370Trp) n.9288A>T n.2753A>T c.5036-4827A>T (n.5036-4827A>T) c.5032A>T (p.Arg1678Trp) c.5080A>T (p.Arg1694Trp) c.4054A>T (p.Arg1352Trp) c.3635A>T c.3196A>T (p.Arg1066Trp) c.*1013A>T (n.*1013A>T) c.4349A>T c.3925A>T (p.Arg1309Trp) c.5122A>T (p.Arg1708Trp) c.5119A>T (p.Arg1707Trp) c.5074A>T (p.Arg1692Trp) c.4198A>T (p.Arg1400Trp) c.3967A>T (p.Arg1323Trp) | |
| 10 | g.94293553G>A | CA377640594 | PLCE1 | c.4157G>A (p.Arg1386Lys) c.*1624G>A (n.*1624G>A) n.1816G>A n.500G>A c.*365G>A (n.*365G>A) c.4109G>A (p.Arg1370Lys) n.9289G>A n.2754G>A c.5036-4826G>A (n.5036-4826G>A) c.5033G>A (p.Arg1678Lys) c.5081G>A (p.Arg1694Lys) c.4055G>A (p.Arg1352Lys) c.3636G>A c.3197G>A (p.Arg1066Lys) c.*1014G>A (n.*1014G>A) c.4350G>A c.3926G>A (p.Arg1309Lys) c.5123G>A (p.Arg1708Lys) c.5120G>A (p.Arg1707Lys) c.5075G>A (p.Arg1692Lys) c.4199G>A (p.Arg1400Lys) c.3968G>A (p.Arg1323Lys) | dbSNP |
| 10 | g.94293553G>C | CA377640595 | PLCE1 | c.4157G>C (p.Arg1386Thr) c.*1624G>C (n.*1624G>C) n.1816G>C n.500G>C c.*365G>C (n.*365G>C) c.4109G>C (p.Arg1370Thr) n.9289G>C n.2754G>C c.5036-4826G>C (n.5036-4826G>C) c.5033G>C (p.Arg1678Thr) c.5081G>C (p.Arg1694Thr) c.4055G>C (p.Arg1352Thr) c.3636G>C c.3197G>C (p.Arg1066Thr) c.*1014G>C (n.*1014G>C) c.4350G>C c.3926G>C (p.Arg1309Thr) c.5123G>C (p.Arg1708Thr) c.5120G>C (p.Arg1707Thr) c.5075G>C (p.Arg1692Thr) c.4199G>C (p.Arg1400Thr) c.3968G>C (p.Arg1323Thr) | |
| 10 | g.94293553G>T | CA377640597 | PLCE1 | c.4157G>T (p.Arg1386Met) c.*1624G>T (n.*1624G>T) n.1816G>T n.500G>T c.*365G>T (n.*365G>T) c.4109G>T (p.Arg1370Met) n.9289G>T n.2754G>T c.5036-4826G>T (n.5036-4826G>T) c.5033G>T (p.Arg1678Met) c.5081G>T (p.Arg1694Met) c.4055G>T (p.Arg1352Met) c.3636G>T c.3197G>T (p.Arg1066Met) c.*1014G>T (n.*1014G>T) c.4350G>T c.3926G>T (p.Arg1309Met) c.5123G>T (p.Arg1708Met) c.5120G>T (p.Arg1707Met) c.5075G>T (p.Arg1692Met) c.4199G>T (p.Arg1400Met) c.3968G>T (p.Arg1323Met) | |
| 10 | g.94293554G>A | CA470807476 | PLCE1 | c.4158G>A (p.Arg1386=) c.*1625G>A (n.*1625G>A) n.1817G>A n.501G>A c.*366G>A (n.*366G>A) c.4110G>A (p.Arg1370=) n.9290G>A n.2755G>A c.5036-4825G>A (n.5036-4825G>A) c.5034G>A (p.Arg1678=) c.5082G>A (p.Arg1694=) c.4056G>A (p.Arg1352=) c.3637G>A c.3198G>A (p.Arg1066=) c.*1015G>A (n.*1015G>A) c.4351G>A c.3927G>A (p.Arg1309=) c.5124G>A (p.Arg1708=) c.5121G>A (p.Arg1707=) c.5076G>A (p.Arg1692=) c.4200G>A (p.Arg1400=) c.3969G>A (p.Arg1323=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.94293554G>C | CA377640599 | PLCE1 | c.4158G>C (p.Arg1386Ser) c.*1625G>C (n.*1625G>C) n.1817G>C n.501G>C c.*366G>C (n.*366G>C) c.4110G>C (p.Arg1370Ser) n.9290G>C n.2755G>C c.5036-4825G>C (n.5036-4825G>C) c.5034G>C (p.Arg1678Ser) c.5082G>C (p.Arg1694Ser) c.4056G>C (p.Arg1352Ser) c.3637G>C c.3198G>C (p.Arg1066Ser) c.*1015G>C (n.*1015G>C) c.4351G>C c.3927G>C (p.Arg1309Ser) c.5124G>C (p.Arg1708Ser) c.5121G>C (p.Arg1707Ser) c.5076G>C (p.Arg1692Ser) c.4200G>C (p.Arg1400Ser) c.3969G>C (p.Arg1323Ser) | |
| 10 | g.94293554G= | CA1928996188 | PLCE1 | c.4158G= (p.Arg1386=) c.*1625G= (n.*1625G=) n.1817G= n.501G= c.*366G= (n.*366G=) c.4110G= (p.Arg1370=) n.9290G= n.2755G= c.5036-4825G= (n.5036-4825G=) c.5034G= (p.Arg1678=) c.5082G= (p.Arg1694=) c.4056G= (p.Arg1352=) c.3637G= c.3198G= (p.Arg1066=) c.*1015G= (n.*1015G=) c.4351G= c.3927G= (p.Arg1309=) c.5124G= (p.Arg1708=) c.5121G= (p.Arg1707=) c.5076G= (p.Arg1692=) c.4200G= (p.Arg1400=) c.3969G= (p.Arg1323=) | |
| 10 | g.94293554G>T | CA377640602 | PLCE1 | c.4158G>T (p.Arg1386Ser) c.*1625G>T (n.*1625G>T) n.1817G>T n.501G>T c.*366G>T (n.*366G>T) c.4110G>T (p.Arg1370Ser) n.9290G>T n.2755G>T c.5036-4825G>T (n.5036-4825G>T) c.5034G>T (p.Arg1678Ser) c.5082G>T (p.Arg1694Ser) c.4056G>T (p.Arg1352Ser) c.3637G>T c.3198G>T (p.Arg1066Ser) c.*1015G>T (n.*1015G>T) c.4351G>T c.3927G>T (p.Arg1309Ser) c.5124G>T (p.Arg1708Ser) c.5121G>T (p.Arg1707Ser) c.5076G>T (p.Arg1692Ser) c.4200G>T (p.Arg1400Ser) c.3969G>T (p.Arg1323Ser) | |
| 10 | g.94293555A>C | CA377640605 | PLCE1 | c.4159A>C (p.Lys1387Gln) c.*1626A>C (n.*1626A>C) n.1818A>C n.502A>C c.*367A>C (n.*367A>C) c.4111A>C (p.Lys1371Gln) n.9291A>C n.2756A>C c.5036-4824A>C (n.5036-4824A>C) c.5035A>C (p.Lys1679Gln) c.5083A>C (p.Lys1695Gln) c.4057A>C (p.Lys1353Gln) c.3638A>C c.3199A>C (p.Lys1067Gln) c.*1016A>C (n.*1016A>C) c.4352A>C c.3928A>C (p.Lys1310Gln) c.5125A>C (p.Lys1709Gln) c.5122A>C (p.Lys1708Gln) c.5077A>C (p.Lys1693Gln) c.4201A>C (p.Lys1401Gln) c.3970A>C (p.Lys1324Gln) | |
| 10 | g.94293555A>G | CA377640608 | PLCE1 | c.4159A>G (p.Lys1387Glu) c.*1626A>G (n.*1626A>G) n.1818A>G n.502A>G c.*367A>G (n.*367A>G) c.4111A>G (p.Lys1371Glu) n.9291A>G n.2756A>G c.5036-4824A>G (n.5036-4824A>G) c.5035A>G (p.Lys1679Glu) c.5083A>G (p.Lys1695Glu) c.4057A>G (p.Lys1353Glu) c.3638A>G c.3199A>G (p.Lys1067Glu) c.*1016A>G (n.*1016A>G) c.4352A>G c.3928A>G (p.Lys1310Glu) c.5125A>G (p.Lys1709Glu) c.5122A>G (p.Lys1708Glu) c.5077A>G (p.Lys1693Glu) c.4201A>G (p.Lys1401Glu) c.3970A>G (p.Lys1324Glu) | |
| 10 | g.94293555A>T | CA377640606 | PLCE1 | c.4159A>T (p.Lys1387Ter) c.*1626A>T (n.*1626A>T) n.1818A>T n.502A>T c.*367A>T (n.*367A>T) c.4111A>T (p.Lys1371Ter) n.9291A>T n.2756A>T c.5036-4824A>T (n.5036-4824A>T) c.5035A>T (p.Lys1679Ter) c.5083A>T (p.Lys1695Ter) c.4057A>T (p.Lys1353Ter) c.3638A>T c.3199A>T (p.Lys1067Ter) c.*1016A>T (n.*1016A>T) c.4352A>T c.3928A>T (p.Lys1310Ter) c.5125A>T (p.Lys1709Ter) c.5122A>T (p.Lys1708Ter) c.5077A>T (p.Lys1693Ter) c.4201A>T (p.Lys1401Ter) c.3970A>T (p.Lys1324Ter) | |
| 10 | g.94293556A>C | CA377640610 | PLCE1 | c.4160A>C (p.Lys1387Thr) c.*1627A>C (n.*1627A>C) n.1819A>C n.503A>C c.*368A>C (n.*368A>C) c.4112A>C (p.Lys1371Thr) n.9292A>C n.2757A>C c.5036-4823A>C (n.5036-4823A>C) c.5036A>C (p.Lys1679Thr) c.5084A>C (p.Lys1695Thr) c.4058A>C (p.Lys1353Thr) c.3639A>C c.3200A>C (p.Lys1067Thr) c.*1017A>C (n.*1017A>C) c.4353A>C c.3929A>C (p.Lys1310Thr) c.5126A>C (p.Lys1709Thr) c.5123A>C (p.Lys1708Thr) c.5078A>C (p.Lys1693Thr) c.4202A>C (p.Lys1401Thr) c.3971A>C (p.Lys1324Thr) | |
| 10 | g.94293556A>G | CA377640612 | PLCE1 | c.4160A>G (p.Lys1387Arg) c.*1627A>G (n.*1627A>G) n.1819A>G n.503A>G c.*368A>G (n.*368A>G) c.4112A>G (p.Lys1371Arg) n.9292A>G n.2757A>G c.5036-4823A>G (n.5036-4823A>G) c.5036A>G (p.Lys1679Arg) c.5084A>G (p.Lys1695Arg) c.4058A>G (p.Lys1353Arg) c.3639A>G c.3200A>G (p.Lys1067Arg) c.*1017A>G (n.*1017A>G) c.4353A>G c.3929A>G (p.Lys1310Arg) c.5126A>G (p.Lys1709Arg) c.5123A>G (p.Lys1708Arg) c.5078A>G (p.Lys1693Arg) c.4202A>G (p.Lys1401Arg) c.3971A>G (p.Lys1324Arg) | |
| 10 | g.94293556A>T | CA377640613 | PLCE1 | c.4160A>T (p.Lys1387Ile) c.*1627A>T (n.*1627A>T) n.1819A>T n.503A>T c.*368A>T (n.*368A>T) c.4112A>T (p.Lys1371Ile) n.9292A>T n.2757A>T c.5036-4823A>T (n.5036-4823A>T) c.5036A>T (p.Lys1679Ile) c.5084A>T (p.Lys1695Ile) c.4058A>T (p.Lys1353Ile) c.3639A>T c.3200A>T (p.Lys1067Ile) c.*1017A>T (n.*1017A>T) c.4353A>T c.3929A>T (p.Lys1310Ile) c.5126A>T (p.Lys1709Ile) c.5123A>T (p.Lys1708Ile) c.5078A>T (p.Lys1693Ile) c.4202A>T (p.Lys1401Ile) c.3971A>T (p.Lys1324Ile) | |
| 10 | g.94293557A>C | CA377640616 | PLCE1 | c.4161A>C (p.Lys1387Asn) c.*1628A>C (n.*1628A>C) n.1820A>C n.504A>C c.*369A>C (n.*369A>C) c.4113A>C (p.Lys1371Asn) n.9293A>C n.2758A>C c.5036-4822A>C (n.5036-4822A>C) c.5037A>C (p.Lys1679Asn) c.5085A>C (p.Lys1695Asn) c.4059A>C (p.Lys1353Asn) c.3640A>C c.3201A>C (p.Lys1067Asn) c.*1018A>C (n.*1018A>C) c.4354A>C c.3930A>C (p.Lys1310Asn) c.5127A>C (p.Lys1709Asn) c.5124A>C (p.Lys1708Asn) c.5079A>C (p.Lys1693Asn) c.4203A>C (p.Lys1401Asn) c.3972A>C (p.Lys1324Asn) | |
| 10 | g.94293557A>G | CA470807485 | PLCE1 | c.4161A>G (p.Lys1387=) c.*1628A>G (n.*1628A>G) n.1820A>G n.504A>G c.*369A>G (n.*369A>G) c.4113A>G (p.Lys1371=) n.9293A>G n.2758A>G c.5036-4822A>G (n.5036-4822A>G) c.5037A>G (p.Lys1679=) c.5085A>G (p.Lys1695=) c.4059A>G (p.Lys1353=) c.3640A>G c.3201A>G (p.Lys1067=) c.*1018A>G (n.*1018A>G) c.4354A>G c.3930A>G (p.Lys1310=) c.5127A>G (p.Lys1709=) c.5124A>G (p.Lys1708=) c.5079A>G (p.Lys1693=) c.4203A>G (p.Lys1401=) c.3972A>G (p.Lys1324=) | |
| 10 | g.94293557A>T | CA377640617 | PLCE1 | c.4161A>T (p.Lys1387Asn) c.*1628A>T (n.*1628A>T) n.1820A>T n.504A>T c.*369A>T (n.*369A>T) c.4113A>T (p.Lys1371Asn) n.9293A>T n.2758A>T c.5036-4822A>T (n.5036-4822A>T) c.5037A>T (p.Lys1679Asn) c.5085A>T (p.Lys1695Asn) c.4059A>T (p.Lys1353Asn) c.3640A>T c.3201A>T (p.Lys1067Asn) c.*1018A>T (n.*1018A>T) c.4354A>T c.3930A>T (p.Lys1310Asn) c.5127A>T (p.Lys1709Asn) c.5124A>T (p.Lys1708Asn) c.5079A>T (p.Lys1693Asn) c.4203A>T (p.Lys1401Asn) c.3972A>T (p.Lys1324Asn) | |
| 10 | g.94293558A>C | CA377640619 | PLCE1 | c.4162A>C (p.Ser1388Arg) c.*1629A>C (n.*1629A>C) n.1821A>C n.505A>C c.*370A>C (n.*370A>C) c.4114A>C (p.Ser1372Arg) n.9294A>C n.2759A>C c.5036-4821A>C (n.5036-4821A>C) c.5038A>C (p.Ser1680Arg) c.5086A>C (p.Ser1696Arg) c.4060A>C (p.Ser1354Arg) c.3641A>C c.3202A>C (p.Ser1068Arg) c.*1019A>C (n.*1019A>C) c.4355A>C c.3931A>C (p.Ser1311Arg) c.5128A>C (p.Ser1710Arg) c.5125A>C (p.Ser1709Arg) c.5080A>C (p.Ser1694Arg) c.4204A>C (p.Ser1402Arg) c.3973A>C (p.Ser1325Arg) | |
| 10 | g.94293558A>G | CA377640620 | PLCE1 | c.4162A>G (p.Ser1388Gly) c.*1629A>G (n.*1629A>G) n.1821A>G n.505A>G c.*370A>G (n.*370A>G) c.4114A>G (p.Ser1372Gly) n.9294A>G n.2759A>G c.5036-4821A>G (n.5036-4821A>G) c.5038A>G (p.Ser1680Gly) c.5086A>G (p.Ser1696Gly) c.4060A>G (p.Ser1354Gly) c.3641A>G c.3202A>G (p.Ser1068Gly) c.*1019A>G (n.*1019A>G) c.4355A>G c.3931A>G (p.Ser1311Gly) c.5128A>G (p.Ser1710Gly) c.5125A>G (p.Ser1709Gly) c.5080A>G (p.Ser1694Gly) c.4204A>G (p.Ser1402Gly) c.3973A>G (p.Ser1325Gly) | |
| 10 | g.94293558A>T | CA377640621 | PLCE1 | c.4162A>T (p.Ser1388Cys) c.*1629A>T (n.*1629A>T) n.1821A>T n.505A>T c.*370A>T (n.*370A>T) c.4114A>T (p.Ser1372Cys) n.9294A>T n.2759A>T c.5036-4821A>T (n.5036-4821A>T) c.5038A>T (p.Ser1680Cys) c.5086A>T (p.Ser1696Cys) c.4060A>T (p.Ser1354Cys) c.3641A>T c.3202A>T (p.Ser1068Cys) c.*1019A>T (n.*1019A>T) c.4355A>T c.3931A>T (p.Ser1311Cys) c.5128A>T (p.Ser1710Cys) c.5125A>T (p.Ser1709Cys) c.5080A>T (p.Ser1694Cys) c.4204A>T (p.Ser1402Cys) c.3973A>T (p.Ser1325Cys) | |
| 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) |