Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.53806604_53806613delinsAGGTTGTTCC | CA1910755740 | PCDH15 | c.4048_4057delinsGGAACAACCT c.5189_5198delinsGGAACAACCT (p.Trp1730=) c.5000_5009delinsGGAACAACCT (p.Trp1667=) c.4997_5006delinsGGAACAACCT (p.Trp1666=) c.1217_1226delinsGGAACAACCT (p.Trp406=) c.5012_5021delinsGGAACAACCT (p.Trp1671=) c.4994_5003delinsGGAACAACCT (p.Trp1665=) c.1349_1358delinsGGAACAACCT (p.Trp450=) c.5015_5024delinsGGAACAACCT (p.Trp1672=) c.5123_5132delinsGGAACAACCT (p.Trp1708=) n.11481_11490delinsGGAACAACCT n.11472_11481delinsGGAACAACCT | |
10 | g.53806605_53806608delinsGGTT | CA1910755745 | PCDH15 | c.4053_4056delinsAACC c.5194_5197delinsAACC (p.Asn1732=) c.5005_5008delinsAACC (p.Asn1669=) c.5002_5005delinsAACC (p.Asn1668=) c.1222_1225delinsAACC (p.Asn408=) c.5017_5020delinsAACC (p.Asn1673=) c.4999_5002delinsAACC (p.Asn1667=) c.1354_1357delinsAACC (p.Asn452=) c.5020_5023delinsAACC (p.Asn1674=) c.5128_5131delinsAACC (p.Asn1710=) n.11486_11489delinsAACC n.11477_11480delinsAACC | |
10 | g.53806605_53806613del | CA5504490 | PCDH15 | c.4048_4056del c.5189_5197del (p.Trp1730_Leu1733delinsPhe) c.5000_5008del (p.Trp1667_Leu1670delinsPhe) c.4997_5005del (p.Trp1666_Leu1669delinsPhe) c.1217_1225del (p.Trp406_Leu409delinsPhe) c.5012_5020del (p.Trp1671_Leu1674delinsPhe) c.4994_5002del (p.Trp1665_Leu1668delinsPhe) c.1349_1357del (p.Trp450_Leu453delinsPhe) c.5015_5023del (p.Trp1672_Leu1675delinsPhe) c.5123_5131del (p.Trp1708_Leu1711delinsPhe) n.11481_11489del n.11472_11480del | dbSNP ExAC gnomAD v2 |
10 | g.53806609_53806611dup | CA1910755752 | PCDH15 | c.4053_4055dup c.5194_5196dup (p.Asn1732_Leu1733insAsn) c.5005_5007dup (p.Asn1669_Leu1670insAsn) c.5002_5004dup (p.Asn1668_Leu1669insAsn) c.1222_1224dup (p.Asn408_Leu409insAsn) c.5017_5019dup (p.Asn1673_Leu1674insAsn) c.4999_5001dup (p.Asn1667_Leu1668insAsn) c.1354_1356dup (p.Asn452_Leu453insAsn) c.5020_5022dup (p.Asn1674_Leu1675insAsn) c.5128_5130dup (p.Asn1710_Leu1711insAsn) n.11486_11488dup n.11477_11479dup | dbSNP |
10 | g.53806609_53806611del | CA5504491 | PCDH15 | c.4053_4055del c.5194_5196del (p.Asn1732del) c.5005_5007del (p.Asn1669del) c.5002_5004del (p.Asn1668del) c.1222_1224del (p.Asn408del) c.5017_5019del (p.Asn1673del) c.4999_5001del (p.Asn1667del) c.1354_1356del (p.Asn452del) c.5020_5022del (p.Asn1674del) c.5128_5130del (p.Asn1710del) n.11486_11488del n.11477_11479del | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806608T>A | CA376515728 | PCDH15 | c.4053A>T c.5194A>T (p.Asn1732Tyr) c.5005A>T (p.Asn1669Tyr) c.5002A>T (p.Asn1668Tyr) c.1222A>T (p.Asn408Tyr) c.5017A>T (p.Asn1673Tyr) c.4999A>T (p.Asn1667Tyr) c.1354A>T (p.Asn452Tyr) c.5020A>T (p.Asn1674Tyr) c.5128A>T (p.Asn1710Tyr) n.11486A>T n.11477A>T | |
10 | g.53806608T>C | CA376515731 | PCDH15 | c.4053A>G c.5194A>G (p.Asn1732Asp) c.5005A>G (p.Asn1669Asp) c.5002A>G (p.Asn1668Asp) c.1222A>G (p.Asn408Asp) c.5017A>G (p.Asn1673Asp) c.4999A>G (p.Asn1667Asp) c.1354A>G (p.Asn452Asp) c.5020A>G (p.Asn1674Asp) c.5128A>G (p.Asn1710Asp) n.11486A>G n.11477A>G | |
10 | g.53806608T>G | CA376515729 | PCDH15 | c.4053A>C c.5194A>C (p.Asn1732His) c.5005A>C (p.Asn1669His) c.5002A>C (p.Asn1668His) c.1222A>C (p.Asn408His) c.5017A>C (p.Asn1673His) c.4999A>C (p.Asn1667His) c.1354A>C (p.Asn452His) c.5020A>C (p.Asn1674His) c.5128A>C (p.Asn1710His) n.11486A>C n.11477A>C | |
10 | g.53806609G>A | CA469545237 | PCDH15 | c.4052C>T c.5193C>T (p.Asn1731=) c.5004C>T (p.Asn1668=) c.5001C>T (p.Asn1667=) c.1221C>T (p.Asn407=) c.5016C>T (p.Asn1672=) c.4998C>T (p.Asn1666=) c.1353C>T (p.Asn451=) c.5019C>T (p.Asn1673=) c.5127C>T (p.Asn1709=) n.11485C>T n.11476C>T | |
10 | g.53806609G>C | CA376515732 | PCDH15 | c.4052C>G c.5193C>G (p.Asn1731Lys) c.5004C>G (p.Asn1668Lys) c.5001C>G (p.Asn1667Lys) c.1221C>G (p.Asn407Lys) c.5016C>G (p.Asn1672Lys) c.4998C>G (p.Asn1666Lys) c.1353C>G (p.Asn451Lys) c.5019C>G (p.Asn1673Lys) c.5127C>G (p.Asn1709Lys) n.11485C>G n.11476C>G | |
10 | g.53806609G>T | CA376515733 | PCDH15 | c.4052C>A c.5193C>A (p.Asn1731Lys) c.5004C>A (p.Asn1668Lys) c.5001C>A (p.Asn1667Lys) c.1221C>A (p.Asn407Lys) c.5016C>A (p.Asn1672Lys) c.4998C>A (p.Asn1666Lys) c.1353C>A (p.Asn451Lys) c.5019C>A (p.Asn1673Lys) c.5127C>A (p.Asn1709Lys) n.11485C>A n.11476C>A | |
10 | g.53806610T>A | CA376515734 | PCDH15 | c.4051A>T c.5192A>T (p.Asn1731Ile) c.5003A>T (p.Asn1668Ile) c.5000A>T (p.Asn1667Ile) c.1220A>T (p.Asn407Ile) c.5015A>T (p.Asn1672Ile) c.4997A>T (p.Asn1666Ile) c.1352A>T (p.Asn451Ile) c.5018A>T (p.Asn1673Ile) c.5126A>T (p.Asn1709Ile) n.11484A>T n.11475A>T | |
10 | g.53806610T>C | CA376515735 | PCDH15 | c.4051A>G c.5192A>G (p.Asn1731Ser) c.5003A>G (p.Asn1668Ser) c.5000A>G (p.Asn1667Ser) c.1220A>G (p.Asn407Ser) c.5015A>G (p.Asn1672Ser) c.4997A>G (p.Asn1666Ser) c.1352A>G (p.Asn451Ser) c.5018A>G (p.Asn1673Ser) c.5126A>G (p.Asn1709Ser) n.11484A>G n.11475A>G | gnomAD v4 |
10 | g.53806610T>G | CA376515736 | PCDH15 | c.4051A>C c.5192A>C (p.Asn1731Thr) c.5003A>C (p.Asn1668Thr) c.5000A>C (p.Asn1667Thr) c.1220A>C (p.Asn407Thr) c.5015A>C (p.Asn1672Thr) c.4997A>C (p.Asn1666Thr) c.1352A>C (p.Asn451Thr) c.5018A>C (p.Asn1673Thr) c.5126A>C (p.Asn1709Thr) n.11484A>C n.11475A>C | |
10 | g.53806611T>A | CA376515737 | PCDH15 | c.4050A>T c.5191A>T (p.Asn1731Tyr) c.5002A>T (p.Asn1668Tyr) c.4999A>T (p.Asn1667Tyr) c.1219A>T (p.Asn407Tyr) c.5014A>T (p.Asn1672Tyr) c.4996A>T (p.Asn1666Tyr) c.1351A>T (p.Asn451Tyr) c.5017A>T (p.Asn1673Tyr) c.5125A>T (p.Asn1709Tyr) n.11483A>T n.11474A>T | |
10 | g.53806611T>C | CA376515738 | PCDH15 | c.4050A>G c.5191A>G (p.Asn1731Asp) c.5002A>G (p.Asn1668Asp) c.4999A>G (p.Asn1667Asp) c.1219A>G (p.Asn407Asp) c.5014A>G (p.Asn1672Asp) c.4996A>G (p.Asn1666Asp) c.1351A>G (p.Asn451Asp) c.5017A>G (p.Asn1673Asp) c.5125A>G (p.Asn1709Asp) n.11483A>G n.11474A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806611T>G | CA376515739 | PCDH15 | c.4050A>C c.5191A>C (p.Asn1731His) c.5002A>C (p.Asn1668His) c.4999A>C (p.Asn1667His) c.1219A>C (p.Asn407His) c.5014A>C (p.Asn1672His) c.4996A>C (p.Asn1666His) c.1351A>C (p.Asn451His) c.5017A>C (p.Asn1673His) c.5125A>C (p.Asn1709His) n.11483A>C n.11474A>C | |
10 | g.53806611T= | CA1910755771 | PCDH15 | c.4050A= c.5191A= (p.Asn1731=) c.5002A= (p.Asn1668=) c.4999A= (p.Asn1667=) c.1219A= (p.Asn407=) c.5014A= (p.Asn1672=) c.4996A= (p.Asn1666=) c.1351A= (p.Asn451=) c.5017A= (p.Asn1673=) c.5125A= (p.Asn1709=) n.11483A= n.11474A= | |
10 | g.53806612C>A | CA376515740 | PCDH15 | c.4049G>T c.5190G>T (p.Trp1730Cys) c.5001G>T (p.Trp1667Cys) c.4998G>T (p.Trp1666Cys) c.1218G>T (p.Trp406Cys) c.5013G>T (p.Trp1671Cys) c.4995G>T (p.Trp1665Cys) c.1350G>T (p.Trp450Cys) c.5016G>T (p.Trp1672Cys) c.5124G>T (p.Trp1708Cys) n.11482G>T n.11473G>T | |
10 | g.53806612C>G | CA376515741 | PCDH15 | c.4049G>C c.5190G>C (p.Trp1730Cys) c.5001G>C (p.Trp1667Cys) c.4998G>C (p.Trp1666Cys) c.1218G>C (p.Trp406Cys) c.5013G>C (p.Trp1671Cys) c.4995G>C (p.Trp1665Cys) c.1350G>C (p.Trp450Cys) c.5016G>C (p.Trp1672Cys) c.5124G>C (p.Trp1708Cys) n.11482G>C n.11473G>C | |
10 | g.53806612C>T | CA376515742 | PCDH15 | c.4049G>A c.5190G>A (p.Trp1730Ter) c.5001G>A (p.Trp1667Ter) c.4998G>A (p.Trp1666Ter) c.1218G>A (p.Trp406Ter) c.5013G>A (p.Trp1671Ter) c.4995G>A (p.Trp1665Ter) c.1350G>A (p.Trp450Ter) c.5016G>A (p.Trp1672Ter) c.5124G>A (p.Trp1708Ter) n.11482G>A n.11473G>A | |
10 | g.53806613C>A | CA376515744 | PCDH15 | c.4048G>T c.5189G>T (p.Trp1730Leu) c.5000G>T (p.Trp1667Leu) c.4997G>T (p.Trp1666Leu) c.1217G>T (p.Trp406Leu) c.5012G>T (p.Trp1671Leu) c.4994G>T (p.Trp1665Leu) c.1349G>T (p.Trp450Leu) c.5015G>T (p.Trp1672Leu) c.5123G>T (p.Trp1708Leu) n.11481G>T n.11472G>T | |
10 | g.53806613C>G | CA376515745 | PCDH15 | c.4048G>C c.5189G>C (p.Trp1730Ser) c.5000G>C (p.Trp1667Ser) c.4997G>C (p.Trp1666Ser) c.1217G>C (p.Trp406Ser) c.5012G>C (p.Trp1671Ser) c.4994G>C (p.Trp1665Ser) c.1349G>C (p.Trp450Ser) c.5015G>C (p.Trp1672Ser) c.5123G>C (p.Trp1708Ser) n.11481G>C n.11472G>C | |
10 | g.53806613C>T | CA376515743 | PCDH15 | c.4048G>A c.5189G>A (p.Trp1730Ter) c.5000G>A (p.Trp1667Ter) c.4997G>A (p.Trp1666Ter) c.1217G>A (p.Trp406Ter) c.5012G>A (p.Trp1671Ter) c.4994G>A (p.Trp1665Ter) c.1349G>A (p.Trp450Ter) c.5015G>A (p.Trp1672Ter) c.5123G>A (p.Trp1708Ter) n.11481G>A n.11472G>A | |
10 | g.53806614A>C | CA376515746 | PCDH15 | c.4047T>G c.5188T>G (p.Trp1730Gly) c.4999T>G (p.Trp1667Gly) c.4996T>G (p.Trp1666Gly) c.1216T>G (p.Trp406Gly) c.5011T>G (p.Trp1671Gly) c.4993T>G (p.Trp1665Gly) c.1348T>G (p.Trp450Gly) c.5014T>G (p.Trp1672Gly) c.5122T>G (p.Trp1708Gly) n.11480T>G n.11471T>G | |
10 | g.53806614A>G | CA376515747 | PCDH15 | c.4047T>C c.5188T>C (p.Trp1730Arg) c.4999T>C (p.Trp1667Arg) c.4996T>C (p.Trp1666Arg) c.1216T>C (p.Trp406Arg) c.5011T>C (p.Trp1671Arg) c.4993T>C (p.Trp1665Arg) c.1348T>C (p.Trp450Arg) c.5014T>C (p.Trp1672Arg) c.5122T>C (p.Trp1708Arg) n.11480T>C n.11471T>C | gnomAD v4 |
10 | g.53806614A>T | CA376515748 | PCDH15 | c.4047T>A c.5188T>A (p.Trp1730Arg) c.4999T>A (p.Trp1667Arg) c.4996T>A (p.Trp1666Arg) c.1216T>A (p.Trp406Arg) c.5011T>A (p.Trp1671Arg) c.4993T>A (p.Trp1665Arg) c.1348T>A (p.Trp450Arg) c.5014T>A (p.Trp1672Arg) c.5122T>A (p.Trp1708Arg) n.11480T>A n.11471T>A | |
10 | g.53806615G>A | CA469545239 | PCDH15 | c.4046C>T c.5187C>T (p.Pro1729=) c.4998C>T (p.Pro1666=) c.4995C>T (p.Pro1665=) c.1215C>T (p.Pro405=) c.5010C>T (p.Pro1670=) c.4992C>T (p.Pro1664=) c.1347C>T (p.Pro449=) c.5013C>T (p.Pro1671=) c.5121C>T (p.Pro1707=) n.11479C>T n.11470C>T | |
10 | g.53806615G>C | CA469545240 | PCDH15 | c.4046C>G c.5187C>G (p.Pro1729=) c.4998C>G (p.Pro1666=) c.4995C>G (p.Pro1665=) c.1215C>G (p.Pro405=) c.5010C>G (p.Pro1670=) c.4992C>G (p.Pro1664=) c.1347C>G (p.Pro449=) c.5013C>G (p.Pro1671=) c.5121C>G (p.Pro1707=) n.11479C>G n.11470C>G | |
10 | g.53806615G>T | CA469545238 | PCDH15 | c.4046C>A c.5187C>A (p.Pro1729=) c.4998C>A (p.Pro1666=) c.4995C>A (p.Pro1665=) c.1215C>A (p.Pro405=) c.5010C>A (p.Pro1670=) c.4992C>A (p.Pro1664=) c.1347C>A (p.Pro449=) c.5013C>A (p.Pro1671=) c.5121C>A (p.Pro1707=) n.11479C>A n.11470C>A | |
10 | g.53806618del | CA2574549892 | PCDH15 | c.4046del c.5187del (p.Trp1730GlyfsTer8) c.4998del (p.Trp1667GlyfsTer8) c.4995del (p.Trp1666GlyfsTer8) c.1215del (p.Trp406GlyfsTer8) c.5010del (p.Trp1671GlyfsTer8) c.4992del (p.Trp1665GlyfsTer8) c.1347del (p.Trp450GlyfsTer8) c.5013del (p.Trp1672GlyfsTer8) c.5121del (p.Trp1708GlyfsTer8) n.11479del n.11470del | |
10 | g.53806616G>A | CA376515749 | PCDH15 | c.4045C>T c.5186C>T (p.Pro1729Leu) c.4997C>T (p.Pro1666Leu) c.4994C>T (p.Pro1665Leu) c.1214C>T (p.Pro405Leu) c.5009C>T (p.Pro1670Leu) c.4991C>T (p.Pro1664Leu) c.1346C>T (p.Pro449Leu) c.5012C>T (p.Pro1671Leu) c.5120C>T (p.Pro1707Leu) n.11478C>T n.11469C>T | dbSNP |
10 | g.53806616G>C | CA376515750 | PCDH15 | c.4045C>G c.5186C>G (p.Pro1729Arg) c.4997C>G (p.Pro1666Arg) c.4994C>G (p.Pro1665Arg) c.1214C>G (p.Pro405Arg) c.5009C>G (p.Pro1670Arg) c.4991C>G (p.Pro1664Arg) c.1346C>G (p.Pro449Arg) c.5012C>G (p.Pro1671Arg) c.5120C>G (p.Pro1707Arg) n.11478C>G n.11469C>G | |
10 | g.53806616G= | CA1910755775 | PCDH15 | c.4045C= c.5186C= (p.Pro1729=) c.4997C= (p.Pro1666=) c.4994C= (p.Pro1665=) c.1214C= (p.Pro405=) c.5009C= (p.Pro1670=) c.4991C= (p.Pro1664=) c.1346C= (p.Pro449=) c.5012C= (p.Pro1671=) c.5120C= (p.Pro1707=) n.11478C= n.11469C= | |
10 | g.53806616G>T | CA376515751 | PCDH15 | c.4045C>A c.5186C>A (p.Pro1729His) c.4997C>A (p.Pro1666His) c.4994C>A (p.Pro1665His) c.1214C>A (p.Pro405His) c.5009C>A (p.Pro1670His) c.4991C>A (p.Pro1664His) c.1346C>A (p.Pro449His) c.5012C>A (p.Pro1671His) c.5120C>A (p.Pro1707His) n.11478C>A n.11469C>A | COSMIC |
10 | g.53806617G>A | CA376515754 | PCDH15 | c.4044C>T c.5185C>T (p.Pro1729Ser) c.4996C>T (p.Pro1666Ser) c.4993C>T (p.Pro1665Ser) c.1213C>T (p.Pro405Ser) c.5008C>T (p.Pro1670Ser) c.4990C>T (p.Pro1664Ser) c.1345C>T (p.Pro449Ser) c.5011C>T (p.Pro1671Ser) c.5119C>T (p.Pro1707Ser) n.11477C>T n.11468C>T | |
10 | g.53806617G>C | CA376515752 | PCDH15 | c.4044C>G c.5185C>G (p.Pro1729Ala) c.4996C>G (p.Pro1666Ala) c.4993C>G (p.Pro1665Ala) c.1213C>G (p.Pro405Ala) c.5008C>G (p.Pro1670Ala) c.4990C>G (p.Pro1664Ala) c.1345C>G (p.Pro449Ala) c.5011C>G (p.Pro1671Ala) c.5119C>G (p.Pro1707Ala) n.11477C>G n.11468C>G | |
10 | g.53806617G>T | CA376515753 | PCDH15 | c.4044C>A c.5185C>A (p.Pro1729Thr) c.4996C>A (p.Pro1666Thr) c.4993C>A (p.Pro1665Thr) c.1213C>A (p.Pro405Thr) c.5008C>A (p.Pro1670Thr) c.4990C>A (p.Pro1664Thr) c.1345C>A (p.Pro449Thr) c.5011C>A (p.Pro1671Thr) c.5119C>A (p.Pro1707Thr) n.11477C>A n.11468C>A | |
10 | g.53806618G>A | CA469545822 | PCDH15 | c.4043C>T c.5184C>T (p.Gly1728=) c.4995C>T (p.Gly1665=) c.4992C>T (p.Gly1664=) c.1212C>T (p.Gly404=) c.5007C>T (p.Gly1669=) c.4989C>T (p.Gly1663=) c.1344C>T (p.Gly448=) c.5010C>T (p.Gly1670=) c.5118C>T (p.Gly1706=) n.11476C>T n.11467C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806618G>C | CA469545820 | PCDH15 | c.4043C>G c.5184C>G (p.Gly1728=) c.4995C>G (p.Gly1665=) c.4992C>G (p.Gly1664=) c.1212C>G (p.Gly404=) c.5007C>G (p.Gly1669=) c.4989C>G (p.Gly1663=) c.1344C>G (p.Gly448=) c.5010C>G (p.Gly1670=) c.5118C>G (p.Gly1706=) n.11476C>G n.11467C>G | |
10 | g.53806618G= | CA1910755778 | PCDH15 | c.4043C= c.5184C= (p.Gly1728=) c.4995C= (p.Gly1665=) c.4992C= (p.Gly1664=) c.1212C= (p.Gly404=) c.5007C= (p.Gly1669=) c.4989C= (p.Gly1663=) c.1344C= (p.Gly448=) c.5010C= (p.Gly1670=) c.5118C= (p.Gly1706=) n.11476C= n.11467C= | |
10 | g.53806618G>T | CA469545821 | PCDH15 | c.4043C>A c.5184C>A (p.Gly1728=) c.4995C>A (p.Gly1665=) c.4992C>A (p.Gly1664=) c.1212C>A (p.Gly404=) c.5007C>A (p.Gly1669=) c.4989C>A (p.Gly1663=) c.1344C>A (p.Gly448=) c.5010C>A (p.Gly1670=) c.5118C>A (p.Gly1706=) n.11476C>A n.11467C>A | gnomAD v4 |
10 | g.53806619C>A | CA376515755 | PCDH15 | c.4042G>T c.5183G>T (p.Gly1728Val) c.4994G>T (p.Gly1665Val) c.4991G>T (p.Gly1664Val) c.1211G>T (p.Gly404Val) c.5006G>T (p.Gly1669Val) c.4988G>T (p.Gly1663Val) c.1343G>T (p.Gly448Val) c.5009G>T (p.Gly1670Val) c.5117G>T (p.Gly1706Val) n.11475G>T n.11466G>T | |
10 | g.53806619C= | CA1910755784 | PCDH15 | c.4042G= c.5183G= (p.Gly1728=) c.4994G= (p.Gly1665=) c.4991G= (p.Gly1664=) c.1211G= (p.Gly404=) c.5006G= (p.Gly1669=) c.4988G= (p.Gly1663=) c.1343G= (p.Gly448=) c.5009G= (p.Gly1670=) c.5117G= (p.Gly1706=) n.11475G= n.11466G= | |
10 | g.53806619C>G | CA376515756 | PCDH15 | c.4042G>C c.5183G>C (p.Gly1728Ala) c.4994G>C (p.Gly1665Ala) c.4991G>C (p.Gly1664Ala) c.1211G>C (p.Gly404Ala) c.5006G>C (p.Gly1669Ala) c.4988G>C (p.Gly1663Ala) c.1343G>C (p.Gly448Ala) c.5009G>C (p.Gly1670Ala) c.5117G>C (p.Gly1706Ala) n.11475G>C n.11466G>C | COSMIC |
10 | g.53806619C>T | CA5504494 | PCDH15 | c.4042G>A c.5183G>A (p.Gly1728Asp) c.4994G>A (p.Gly1665Asp) c.4991G>A (p.Gly1664Asp) c.1211G>A (p.Gly404Asp) c.5006G>A (p.Gly1669Asp) c.4988G>A (p.Gly1663Asp) c.1343G>A (p.Gly448Asp) c.5009G>A (p.Gly1670Asp) c.5117G>A (p.Gly1706Asp) n.11475G>A n.11466G>A | dbSNP ExAC gnomAD v2 |
10 | g.53806620C>A | CA376515757 | PCDH15 | c.4041G>T c.5182G>T (p.Gly1728Cys) c.4993G>T (p.Gly1665Cys) c.4990G>T (p.Gly1664Cys) c.1210G>T (p.Gly404Cys) c.5005G>T (p.Gly1669Cys) c.4987G>T (p.Gly1663Cys) c.1342G>T (p.Gly448Cys) c.5008G>T (p.Gly1670Cys) c.5116G>T (p.Gly1706Cys) n.11474G>T n.11465G>T | gnomAD v4 |
10 | g.53806620C= | CA1910755788 | PCDH15 | c.4041G= c.5182G= (p.Gly1728=) c.4993G= (p.Gly1665=) c.4990G= (p.Gly1664=) c.1210G= (p.Gly404=) c.5005G= (p.Gly1669=) c.4987G= (p.Gly1663=) c.1342G= (p.Gly448=) c.5008G= (p.Gly1670=) c.5116G= (p.Gly1706=) n.11474G= n.11465G= | |
10 | g.53806620C>G | CA376515758 | PCDH15 | c.4041G>C c.5182G>C (p.Gly1728Arg) c.4993G>C (p.Gly1665Arg) c.4990G>C (p.Gly1664Arg) c.1210G>C (p.Gly404Arg) c.5005G>C (p.Gly1669Arg) c.4987G>C (p.Gly1663Arg) c.1342G>C (p.Gly448Arg) c.5008G>C (p.Gly1670Arg) c.5116G>C (p.Gly1706Arg) n.11474G>C n.11465G>C | gnomAD v4 |
10 | g.53806620C>T | CA5504495 | PCDH15 | c.4041G>A c.5182G>A (p.Gly1728Ser) c.4993G>A (p.Gly1665Ser) c.4990G>A (p.Gly1664Ser) c.1210G>A (p.Gly404Ser) c.5005G>A (p.Gly1669Ser) c.4987G>A (p.Gly1663Ser) c.1342G>A (p.Gly448Ser) c.5008G>A (p.Gly1670Ser) c.5116G>A (p.Gly1706Ser) n.11474G>A n.11465G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806621C>A | CA376515759 | PCDH15 | c.4040G>T c.5181G>T (p.Met1727Ile) c.4992G>T (p.Met1664Ile) c.4989G>T (p.Met1663Ile) c.1209G>T (p.Met403Ile) c.5004G>T (p.Met1668Ile) c.4986G>T (p.Met1662Ile) c.1341G>T (p.Met447Ile) c.5007G>T (p.Met1669Ile) c.5115G>T (p.Met1705Ile) n.11473G>T n.11464G>T | dbSNP |
10 | g.53806621C= | CA1910755792 | PCDH15 | c.4040G= c.5181G= (p.Met1727=) c.4992G= (p.Met1664=) c.4989G= (p.Met1663=) c.1209G= (p.Met403=) c.5004G= (p.Met1668=) c.4986G= (p.Met1662=) c.1341G= (p.Met447=) c.5007G= (p.Met1669=) c.5115G= (p.Met1705=) n.11473G= n.11464G= | |
10 | g.53806621C>G | CA376515761 | PCDH15 | c.4040G>C c.5181G>C (p.Met1727Ile) c.4992G>C (p.Met1664Ile) c.4989G>C (p.Met1663Ile) c.1209G>C (p.Met403Ile) c.5004G>C (p.Met1668Ile) c.4986G>C (p.Met1662Ile) c.1341G>C (p.Met447Ile) c.5007G>C (p.Met1669Ile) c.5115G>C (p.Met1705Ile) n.11473G>C n.11464G>C | |
10 | g.53806621C>T | CA376515760 | PCDH15 | c.4040G>A c.5181G>A (p.Met1727Ile) c.4992G>A (p.Met1664Ile) c.4989G>A (p.Met1663Ile) c.1209G>A (p.Met403Ile) c.5004G>A (p.Met1668Ile) c.4986G>A (p.Met1662Ile) c.1341G>A (p.Met447Ile) c.5007G>A (p.Met1669Ile) c.5115G>A (p.Met1705Ile) n.11473G>A n.11464G>A | gnomAD v4 |
10 | g.53806622A= | CA1910755797 | PCDH15 | c.4039T= c.5180T= (p.Met1727=) c.4991T= (p.Met1664=) c.4988T= (p.Met1663=) c.1208T= (p.Met403=) c.5003T= (p.Met1668=) c.4985T= (p.Met1662=) c.1340T= (p.Met447=) c.5006T= (p.Met1669=) c.5114T= (p.Met1705=) n.11472T= n.11463T= | |
10 | g.53806622A>C | CA376515762 | PCDH15 | c.4039T>G c.5180T>G (p.Met1727Arg) c.4991T>G (p.Met1664Arg) c.4988T>G (p.Met1663Arg) c.1208T>G (p.Met403Arg) c.5003T>G (p.Met1668Arg) c.4985T>G (p.Met1662Arg) c.1340T>G (p.Met447Arg) c.5006T>G (p.Met1669Arg) c.5114T>G (p.Met1705Arg) n.11472T>G n.11463T>G | dbSNP |
10 | g.53806622A>G | CA376515763 | PCDH15 | c.4039T>C c.5180T>C (p.Met1727Thr) c.4991T>C (p.Met1664Thr) c.4988T>C (p.Met1663Thr) c.1208T>C (p.Met403Thr) c.5003T>C (p.Met1668Thr) c.4985T>C (p.Met1662Thr) c.1340T>C (p.Met447Thr) c.5006T>C (p.Met1669Thr) c.5114T>C (p.Met1705Thr) n.11472T>C n.11463T>C | |
10 | g.53806622A>T | CA376515764 | PCDH15 | c.4039T>A c.5180T>A (p.Met1727Lys) c.4991T>A (p.Met1664Lys) c.4988T>A (p.Met1663Lys) c.1208T>A (p.Met403Lys) c.5003T>A (p.Met1668Lys) c.4985T>A (p.Met1662Lys) c.1340T>A (p.Met447Lys) c.5006T>A (p.Met1669Lys) c.5114T>A (p.Met1705Lys) n.11472T>A n.11463T>A | |
10 | g.53806622_53806666delinsATCCAAAGCTCTTCATCATCAGACTGTGTGTGGTCACTATGAAAT | CA1910755800 | PCDH15 | c.3995_4039delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT c.5136_5180delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu1712=) c.4947_4991delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu1649=) c.4944_4988delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu1648=) c.1164_1208delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu388=) c.4959_5003delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu1653=) c.4941_4985delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu1647=) c.1296_1340delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu432=) c.4962_5006delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu1654=) c.5070_5114delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu1690=) n.11428_11472delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT n.11419_11463delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT | |
10 | g.53806623T>A | CA376515765 | PCDH15 | c.4038A>T c.5179A>T (p.Met1727Leu) c.4990A>T (p.Met1664Leu) c.4987A>T (p.Met1663Leu) c.1207A>T (p.Met403Leu) c.5002A>T (p.Met1668Leu) c.4984A>T (p.Met1662Leu) c.1339A>T (p.Met447Leu) c.5005A>T (p.Met1669Leu) c.5113A>T (p.Met1705Leu) n.11471A>T n.11462A>T | |
10 | g.53806623T>C | CA376515766 | PCDH15 | c.4038A>G c.5179A>G (p.Met1727Val) c.4990A>G (p.Met1664Val) c.4987A>G (p.Met1663Val) c.1207A>G (p.Met403Val) c.5002A>G (p.Met1668Val) c.4984A>G (p.Met1662Val) c.1339A>G (p.Met447Val) c.5005A>G (p.Met1669Val) c.5113A>G (p.Met1705Val) n.11471A>G n.11462A>G | dbSNP gnomAD v2 |
10 | g.53806623T>G | CA207195670 | PCDH15 | c.4038A>C c.5179A>C (p.Met1727Leu) c.4990A>C (p.Met1664Leu) c.4987A>C (p.Met1663Leu) c.1207A>C (p.Met403Leu) c.5002A>C (p.Met1668Leu) c.4984A>C (p.Met1662Leu) c.1339A>C (p.Met447Leu) c.5005A>C (p.Met1669Leu) c.5113A>C (p.Met1705Leu) n.11471A>C n.11462A>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.53806623T= | CA1910755806 | PCDH15 | c.4038A= c.5179A= (p.Met1727=) c.4990A= (p.Met1664=) c.4987A= (p.Met1663=) c.1207A= (p.Met403=) c.5002A= (p.Met1668=) c.4984A= (p.Met1662=) c.1339A= (p.Met447=) c.5005A= (p.Met1669=) c.5113A= (p.Met1705=) n.11471A= n.11462A= | |
10 | g.53806631_53806674del | CA1910755805 | PCDH15 | c.3995_4038del c.5136_5179del (p.Glu1712AspfsTer?) c.4947_4990del (p.Glu1649AspfsTer?) c.4944_4987del (p.Glu1648AspfsTer?) c.1164_1207del (p.Glu388AspfsTer?) c.4959_5002del (p.Glu1653AspfsTer?) c.4941_4984del (p.Glu1647AspfsTer?) c.1296_1339del (p.Glu432AspfsTer?) c.4962_5005del (p.Glu1654AspfsTer?) c.5070_5113del (p.Glu1690AspfsTer?) n.11428_11471del n.11419_11462del | dbSNP |
10 | g.53806624C>A | CA207195673 | PCDH15 | c.4037G>T c.5178G>T (p.Trp1726Cys) c.4989G>T (p.Trp1663Cys) c.4986G>T (p.Trp1662Cys) c.1206G>T (p.Trp402Cys) c.5001G>T (p.Trp1667Cys) c.4983G>T (p.Trp1661Cys) c.1338G>T (p.Trp446Cys) c.5004G>T (p.Trp1668Cys) c.5112G>T (p.Trp1704Cys) n.11470G>T n.11461G>T | dbSNP |
10 | g.53806624C= | CA1910755808 | PCDH15 | c.4037G= c.5178G= (p.Trp1726=) c.4989G= (p.Trp1663=) c.4986G= (p.Trp1662=) c.1206G= (p.Trp402=) c.5001G= (p.Trp1667=) c.4983G= (p.Trp1661=) c.1338G= (p.Trp446=) c.5004G= (p.Trp1668=) c.5112G= (p.Trp1704=) n.11470G= n.11461G= | |
10 | g.53806624C>G | CA376515767 | PCDH15 | c.4037G>C c.5178G>C (p.Trp1726Cys) c.4989G>C (p.Trp1663Cys) c.4986G>C (p.Trp1662Cys) c.1206G>C (p.Trp402Cys) c.5001G>C (p.Trp1667Cys) c.4983G>C (p.Trp1661Cys) c.1338G>C (p.Trp446Cys) c.5004G>C (p.Trp1668Cys) c.5112G>C (p.Trp1704Cys) n.11470G>C n.11461G>C | gnomAD v4 |
10 | g.53806624C>T | CA376515768 | PCDH15 | c.4037G>A c.5178G>A (p.Trp1726Ter) c.4989G>A (p.Trp1663Ter) c.4986G>A (p.Trp1662Ter) c.1206G>A (p.Trp402Ter) c.5001G>A (p.Trp1667Ter) c.4983G>A (p.Trp1661Ter) c.1338G>A (p.Trp446Ter) c.5004G>A (p.Trp1668Ter) c.5112G>A (p.Trp1704Ter) n.11470G>A n.11461G>A | gnomAD v4 |
10 | g.53806625C>A | CA376515769 | PCDH15 | c.4036G>T c.5177G>T (p.Trp1726Leu) c.4988G>T (p.Trp1663Leu) c.4985G>T (p.Trp1662Leu) c.1205G>T (p.Trp402Leu) c.5000G>T (p.Trp1667Leu) c.4982G>T (p.Trp1661Leu) c.1337G>T (p.Trp446Leu) c.5003G>T (p.Trp1668Leu) c.5111G>T (p.Trp1704Leu) n.11469G>T n.11460G>T | |
10 | g.53806625C>G | CA376515770 | PCDH15 | c.4036G>C c.5177G>C (p.Trp1726Ser) c.4988G>C (p.Trp1663Ser) c.4985G>C (p.Trp1662Ser) c.1205G>C (p.Trp402Ser) c.5000G>C (p.Trp1667Ser) c.4982G>C (p.Trp1661Ser) c.1337G>C (p.Trp446Ser) c.5003G>C (p.Trp1668Ser) c.5111G>C (p.Trp1704Ser) n.11469G>C n.11460G>C | COSMIC |
10 | g.53806625C>T | CA376515771 | PCDH15 | c.4036G>A c.5177G>A (p.Trp1726Ter) c.4988G>A (p.Trp1663Ter) c.4985G>A (p.Trp1662Ter) c.1205G>A (p.Trp402Ter) c.5000G>A (p.Trp1667Ter) c.4982G>A (p.Trp1661Ter) c.1337G>A (p.Trp446Ter) c.5003G>A (p.Trp1668Ter) c.5111G>A (p.Trp1704Ter) n.11469G>A n.11460G>A | COSMIC |
10 | g.53806626A>C | CA376515772 | PCDH15 | c.4035T>G c.5176T>G (p.Trp1726Gly) c.4987T>G (p.Trp1663Gly) c.4984T>G (p.Trp1662Gly) c.1204T>G (p.Trp402Gly) c.4999T>G (p.Trp1667Gly) c.4981T>G (p.Trp1661Gly) c.1336T>G (p.Trp446Gly) c.5002T>G (p.Trp1668Gly) c.5110T>G (p.Trp1704Gly) n.11468T>G n.11459T>G | |
10 | g.53806626A>G | CA376515774 | PCDH15 | c.4035T>C c.5176T>C (p.Trp1726Arg) c.4987T>C (p.Trp1663Arg) c.4984T>C (p.Trp1662Arg) c.1204T>C (p.Trp402Arg) c.4999T>C (p.Trp1667Arg) c.4981T>C (p.Trp1661Arg) c.1336T>C (p.Trp446Arg) c.5002T>C (p.Trp1668Arg) c.5110T>C (p.Trp1704Arg) n.11468T>C n.11459T>C | |
10 | g.53806626A>T | CA376515773 | PCDH15 | c.4035T>A c.5176T>A (p.Trp1726Arg) c.4987T>A (p.Trp1663Arg) c.4984T>A (p.Trp1662Arg) c.1204T>A (p.Trp402Arg) c.4999T>A (p.Trp1667Arg) c.4981T>A (p.Trp1661Arg) c.1336T>A (p.Trp446Arg) c.5002T>A (p.Trp1668Arg) c.5110T>A (p.Trp1704Arg) n.11468T>A n.11459T>A | |
10 | g.53806627A>C | CA469545823 | PCDH15 | c.4034T>G c.5175T>G (p.Leu1725=) c.4986T>G (p.Leu1662=) c.4983T>G (p.Leu1661=) c.1203T>G (p.Leu401=) c.4998T>G (p.Leu1666=) c.4980T>G (p.Leu1660=) c.1335T>G (p.Leu445=) c.5001T>G (p.Leu1667=) c.5109T>G (p.Leu1703=) n.11467T>G n.11458T>G | |
10 | g.53806627A>G | CA469545824 | PCDH15 | c.4034T>C c.5175T>C (p.Leu1725=) c.4986T>C (p.Leu1662=) c.4983T>C (p.Leu1661=) c.1203T>C (p.Leu401=) c.4998T>C (p.Leu1666=) c.4980T>C (p.Leu1660=) c.1335T>C (p.Leu445=) c.5001T>C (p.Leu1667=) c.5109T>C (p.Leu1703=) n.11467T>C n.11458T>C | |
10 | g.53806627A>T | CA469545825 | PCDH15 | c.4034T>A c.5175T>A (p.Leu1725=) c.4986T>A (p.Leu1662=) c.4983T>A (p.Leu1661=) c.1203T>A (p.Leu401=) c.4998T>A (p.Leu1666=) c.4980T>A (p.Leu1660=) c.1335T>A (p.Leu445=) c.5001T>A (p.Leu1667=) c.5109T>A (p.Leu1703=) n.11467T>A n.11458T>A | |
10 | g.53806628A>C | CA376515775 | PCDH15 | c.4033T>G c.5174T>G (p.Leu1725Arg) c.4985T>G (p.Leu1662Arg) c.4982T>G (p.Leu1661Arg) c.1202T>G (p.Leu401Arg) c.4997T>G (p.Leu1666Arg) c.4979T>G (p.Leu1660Arg) c.1334T>G (p.Leu445Arg) c.5000T>G (p.Leu1667Arg) c.5108T>G (p.Leu1703Arg) n.11466T>G n.11457T>G | |
10 | g.53806628A>G | CA376515776 | PCDH15 | c.4033T>C c.5174T>C (p.Leu1725Pro) c.4985T>C (p.Leu1662Pro) c.4982T>C (p.Leu1661Pro) c.1202T>C (p.Leu401Pro) c.4997T>C (p.Leu1666Pro) c.4979T>C (p.Leu1660Pro) c.1334T>C (p.Leu445Pro) c.5000T>C (p.Leu1667Pro) c.5108T>C (p.Leu1703Pro) n.11466T>C n.11457T>C | |
10 | g.53806628A>T | CA376515777 | PCDH15 | c.4033T>A c.5174T>A (p.Leu1725His) c.4985T>A (p.Leu1662His) c.4982T>A (p.Leu1661His) c.1202T>A (p.Leu401His) c.4997T>A (p.Leu1666His) c.4979T>A (p.Leu1660His) c.1334T>A (p.Leu445His) c.5000T>A (p.Leu1667His) c.5108T>A (p.Leu1703His) n.11466T>A n.11457T>A | |
10 | g.53806629G>A | CA376515778 | PCDH15 | c.4032C>T c.5173C>T (p.Leu1725Phe) c.4984C>T (p.Leu1662Phe) c.4981C>T (p.Leu1661Phe) c.1201C>T (p.Leu401Phe) c.4996C>T (p.Leu1666Phe) c.4978C>T (p.Leu1660Phe) c.1333C>T (p.Leu445Phe) c.4999C>T (p.Leu1667Phe) c.5107C>T (p.Leu1703Phe) n.11465C>T n.11456C>T | gnomAD v4 |
10 | g.53806629G>C | CA376515779 | PCDH15 | c.4032C>G c.5173C>G (p.Leu1725Val) c.4984C>G (p.Leu1662Val) c.4981C>G (p.Leu1661Val) c.1201C>G (p.Leu401Val) c.4996C>G (p.Leu1666Val) c.4978C>G (p.Leu1660Val) c.1333C>G (p.Leu445Val) c.4999C>G (p.Leu1667Val) c.5107C>G (p.Leu1703Val) n.11465C>G n.11456C>G | |
10 | g.53806629G>T | CA376515780 | PCDH15 | c.4032C>A c.5173C>A (p.Leu1725Ile) c.4984C>A (p.Leu1662Ile) c.4981C>A (p.Leu1661Ile) c.1201C>A (p.Leu401Ile) c.4996C>A (p.Leu1666Ile) c.4978C>A (p.Leu1660Ile) c.1333C>A (p.Leu445Ile) c.4999C>A (p.Leu1667Ile) c.5107C>A (p.Leu1703Ile) n.11465C>A n.11456C>A | |
10 | g.53806630C>A | CA376515781 | PCDH15 | c.4031G>T c.5172G>T (p.Glu1724Asp) c.4983G>T (p.Glu1661Asp) c.4980G>T (p.Glu1660Asp) c.1200G>T (p.Glu400Asp) c.4995G>T (p.Glu1665Asp) c.4977G>T (p.Glu1659Asp) c.1332G>T (p.Glu444Asp) c.4998G>T (p.Glu1666Asp) c.5106G>T (p.Glu1702Asp) n.11464G>T n.11455G>T | |
10 | g.53806630C>G | CA376515782 | PCDH15 | c.4031G>C c.5172G>C (p.Glu1724Asp) c.4983G>C (p.Glu1661Asp) c.4980G>C (p.Glu1660Asp) c.1200G>C (p.Glu400Asp) c.4995G>C (p.Glu1665Asp) c.4977G>C (p.Glu1659Asp) c.1332G>C (p.Glu444Asp) c.4998G>C (p.Glu1666Asp) c.5106G>C (p.Glu1702Asp) n.11464G>C n.11455G>C | gnomAD v4 |
10 | g.53806630C>T | CA469545826 | PCDH15 | c.4031G>A c.5172G>A (p.Glu1724=) c.4983G>A (p.Glu1661=) c.4980G>A (p.Glu1660=) c.1200G>A (p.Glu400=) c.4995G>A (p.Glu1665=) c.4977G>A (p.Glu1659=) c.1332G>A (p.Glu444=) c.4998G>A (p.Glu1666=) c.5106G>A (p.Glu1702=) n.11464G>A n.11455G>A | |
10 | g.53806631T>A | CA376515783 | PCDH15 | c.4030A>T c.5171A>T (p.Glu1724Val) c.4982A>T (p.Glu1661Val) c.4979A>T (p.Glu1660Val) c.1199A>T (p.Glu400Val) c.4994A>T (p.Glu1665Val) c.4976A>T (p.Glu1659Val) c.1331A>T (p.Glu444Val) c.4997A>T (p.Glu1666Val) c.5105A>T (p.Glu1702Val) n.11463A>T n.11454A>T | |
10 | g.53806631T>C | CA376515784 | PCDH15 | c.4030A>G c.5171A>G (p.Glu1724Gly) c.4982A>G (p.Glu1661Gly) c.4979A>G (p.Glu1660Gly) c.1199A>G (p.Glu400Gly) c.4994A>G (p.Glu1665Gly) c.4976A>G (p.Glu1659Gly) c.1331A>G (p.Glu444Gly) c.4997A>G (p.Glu1666Gly) c.5105A>G (p.Glu1702Gly) n.11463A>G n.11454A>G | dbSNP |
10 | g.53806631T>G | CA376515785 | PCDH15 | c.4030A>C c.5171A>C (p.Glu1724Ala) c.4982A>C (p.Glu1661Ala) c.4979A>C (p.Glu1660Ala) c.1199A>C (p.Glu400Ala) c.4994A>C (p.Glu1665Ala) c.4976A>C (p.Glu1659Ala) c.1331A>C (p.Glu444Ala) c.4997A>C (p.Glu1666Ala) c.5105A>C (p.Glu1702Ala) n.11463A>C n.11454A>C | gnomAD v4 |
10 | g.53806631T= | CA1910755814 | PCDH15 | c.4030A= c.5171A= (p.Glu1724=) c.4982A= (p.Glu1661=) c.4979A= (p.Glu1660=) c.1199A= (p.Glu400=) c.4994A= (p.Glu1665=) c.4976A= (p.Glu1659=) c.1331A= (p.Glu444=) c.4997A= (p.Glu1666=) c.5105A= (p.Glu1702=) n.11463A= n.11454A= | |
10 | g.53806632C>A | CA376515786 | PCDH15 | c.4029G>T c.5170G>T (p.Glu1724Ter) c.4981G>T (p.Glu1661Ter) c.4978G>T (p.Glu1660Ter) c.1198G>T (p.Glu400Ter) c.4993G>T (p.Glu1665Ter) c.4975G>T (p.Glu1659Ter) c.1330G>T (p.Glu444Ter) c.4996G>T (p.Glu1666Ter) c.5104G>T (p.Glu1702Ter) n.11462G>T n.11453G>T | |
10 | g.53806632C>G | CA376515787 | PCDH15 | c.4029G>C c.5170G>C (p.Glu1724Gln) c.4981G>C (p.Glu1661Gln) c.4978G>C (p.Glu1660Gln) c.1198G>C (p.Glu400Gln) c.4993G>C (p.Glu1665Gln) c.4975G>C (p.Glu1659Gln) c.1330G>C (p.Glu444Gln) c.4996G>C (p.Glu1666Gln) c.5104G>C (p.Glu1702Gln) n.11462G>C n.11453G>C | |
10 | g.53806632C>T | CA376515788 | PCDH15 | c.4029G>A c.5170G>A (p.Glu1724Lys) c.4981G>A (p.Glu1661Lys) c.4978G>A (p.Glu1660Lys) c.1198G>A (p.Glu400Lys) c.4993G>A (p.Glu1665Lys) c.4975G>A (p.Glu1659Lys) c.1330G>A (p.Glu444Lys) c.4996G>A (p.Glu1666Lys) c.5104G>A (p.Glu1702Lys) n.11462G>A n.11453G>A | gnomAD v4 |
10 | g.53806633T>A | CA376515789 | PCDH15 | c.4028A>T c.5169A>T (p.Glu1723Asp) c.4980A>T (p.Glu1660Asp) c.4977A>T (p.Glu1659Asp) c.1197A>T (p.Glu399Asp) c.4992A>T (p.Glu1664Asp) c.4974A>T (p.Glu1658Asp) c.1329A>T (p.Glu443Asp) c.4995A>T (p.Glu1665Asp) c.5103A>T (p.Glu1701Asp) n.11461A>T n.11452A>T | |
10 | g.53806633T>C | CA469545827 | PCDH15 | c.4028A>G c.5169A>G (p.Glu1723=) c.4980A>G (p.Glu1660=) c.4977A>G (p.Glu1659=) c.1197A>G (p.Glu399=) c.4992A>G (p.Glu1664=) c.4974A>G (p.Glu1658=) c.1329A>G (p.Glu443=) c.4995A>G (p.Glu1665=) c.5103A>G (p.Glu1701=) n.11461A>G n.11452A>G | |
10 | g.53806633T>G | CA376515790 | PCDH15 | c.4028A>C c.5169A>C (p.Glu1723Asp) c.4980A>C (p.Glu1660Asp) c.4977A>C (p.Glu1659Asp) c.1197A>C (p.Glu399Asp) c.4992A>C (p.Glu1664Asp) c.4974A>C (p.Glu1658Asp) c.1329A>C (p.Glu443Asp) c.4995A>C (p.Glu1665Asp) c.5103A>C (p.Glu1701Asp) n.11461A>C n.11452A>C | |
10 | g.53806633_53806636delinsTTCA | CA1910755815 | PCDH15 | c.4025_4028delinsTGAA c.5166_5169delinsTGAA (p.Asp1722=) c.4977_4980delinsTGAA (p.Asp1659=) c.4974_4977delinsTGAA (p.Asp1658=) c.1194_1197delinsTGAA (p.Asp398=) c.4989_4992delinsTGAA (p.Asp1663=) c.4971_4974delinsTGAA (p.Asp1657=) c.1326_1329delinsTGAA (p.Asp442=) c.4992_4995delinsTGAA (p.Asp1664=) c.5100_5103delinsTGAA (p.Asp1700=) n.11458_11461delinsTGAA n.11449_11452delinsTGAA | |
10 | g.53806634_53806637del | CA912970253 | PCDH15 | c.4025_4028del c.5166_5169del (p.Asp1722GlufsTer15) c.4977_4980del (p.Asp1659GlufsTer15) c.4974_4977del (p.Asp1658GlufsTer15) c.1194_1197del (p.Asp398GlufsTer15) c.4989_4992del (p.Asp1663GlufsTer15) c.4971_4974del (p.Asp1657GlufsTer15) c.1326_1329del (p.Asp442GlufsTer15) c.4992_4995del (p.Asp1664GlufsTer15) c.5100_5103del (p.Asp1700GlufsTer15) n.11458_11461del n.11449_11452del | |
10 | g.53806634T>A | CA376515791 | PCDH15 | c.4027A>T c.5168A>T (p.Glu1723Val) c.4979A>T (p.Glu1660Val) c.4976A>T (p.Glu1659Val) c.1196A>T (p.Glu399Val) c.4991A>T (p.Glu1664Val) c.4973A>T (p.Glu1658Val) c.1328A>T (p.Glu443Val) c.4994A>T (p.Glu1665Val) c.5102A>T (p.Glu1701Val) n.11460A>T n.11451A>T | |
10 | g.53806634T>C | CA376515792 | PCDH15 | c.4027A>G c.5168A>G (p.Glu1723Gly) c.4979A>G (p.Glu1660Gly) c.4976A>G (p.Glu1659Gly) c.1196A>G (p.Glu399Gly) c.4991A>G (p.Glu1664Gly) c.4973A>G (p.Glu1658Gly) c.1328A>G (p.Glu443Gly) c.4994A>G (p.Glu1665Gly) c.5102A>G (p.Glu1701Gly) n.11460A>G n.11451A>G | |
10 | g.53806634T>G | CA376515793 | PCDH15 | c.4027A>C c.5168A>C (p.Glu1723Ala) c.4979A>C (p.Glu1660Ala) c.4976A>C (p.Glu1659Ala) c.1196A>C (p.Glu399Ala) c.4991A>C (p.Glu1664Ala) c.4973A>C (p.Glu1658Ala) c.1328A>C (p.Glu443Ala) c.4994A>C (p.Glu1665Ala) c.5102A>C (p.Glu1701Ala) n.11460A>C n.11451A>C | |
10 | g.53806640_53806642dup | CA1910755824 | PCDH15 | c.4025_4027dup c.5166_5168dup (p.Asp1722_Glu1723insAsp) c.4977_4979dup (p.Asp1659_Glu1660insAsp) c.4974_4976dup (p.Asp1658_Glu1659insAsp) c.1194_1196dup (p.Asp398_Glu399insAsp) c.4989_4991dup (p.Asp1663_Glu1664insAsp) c.4971_4973dup (p.Asp1657_Glu1658insAsp) c.1326_1328dup (p.Asp442_Glu443insAsp) c.4992_4994dup (p.Asp1664_Glu1665insAsp) c.5100_5102dup (p.Asp1700_Glu1701insAsp) n.11458_11460dup n.11449_11451dup | dbSNP gnomAD v4 |
10 | g.53806640_53806642del | CA658822066 | PCDH15 | c.4025_4027del c.5166_5168del (p.Asp1722del) c.4977_4979del (p.Asp1659del) c.4974_4976del (p.Asp1658del) c.1194_1196del (p.Asp398del) c.4989_4991del (p.Asp1663del) c.4971_4973del (p.Asp1657del) c.1326_1328del (p.Asp442del) c.4992_4994del (p.Asp1664del) c.5100_5102del (p.Asp1700del) n.11458_11460del n.11449_11451del | ClinVar dbSNP |
10 | g.53806635C>A | CA376515794 | PCDH15 | c.4026G>T c.5167G>T (p.Glu1723Ter) c.4978G>T (p.Glu1660Ter) c.4975G>T (p.Glu1659Ter) c.1195G>T (p.Glu399Ter) c.4990G>T (p.Glu1664Ter) c.4972G>T (p.Glu1658Ter) c.1327G>T (p.Glu443Ter) c.4993G>T (p.Glu1665Ter) c.5101G>T (p.Glu1701Ter) n.11459G>T n.11450G>T | |
10 | g.53806635C= | CA1910755828 | PCDH15 | c.4026G= c.5167G= (p.Glu1723=) c.4978G= (p.Glu1660=) c.4975G= (p.Glu1659=) c.1195G= (p.Glu399=) c.4990G= (p.Glu1664=) c.4972G= (p.Glu1658=) c.1327G= (p.Glu443=) c.4993G= (p.Glu1665=) c.5101G= (p.Glu1701=) n.11459G= n.11450G= | |
10 | g.53806635C>G | CA376515795 | PCDH15 | c.4026G>C c.5167G>C (p.Glu1723Gln) c.4978G>C (p.Glu1660Gln) c.4975G>C (p.Glu1659Gln) c.1195G>C (p.Glu399Gln) c.4990G>C (p.Glu1664Gln) c.4972G>C (p.Glu1658Gln) c.1327G>C (p.Glu443Gln) c.4993G>C (p.Glu1665Gln) c.5101G>C (p.Glu1701Gln) n.11459G>C n.11450G>C | |
10 | g.53806635C>T | CA376515796 | PCDH15 | c.4026G>A c.5167G>A (p.Glu1723Lys) c.4978G>A (p.Glu1660Lys) c.4975G>A (p.Glu1659Lys) c.1195G>A (p.Glu399Lys) c.4990G>A (p.Glu1664Lys) c.4972G>A (p.Glu1658Lys) c.1327G>A (p.Glu443Lys) c.4993G>A (p.Glu1665Lys) c.5101G>A (p.Glu1701Lys) n.11459G>A n.11450G>A | |
10 | g.53806636A>C | CA376515797 | PCDH15 | c.4025T>G c.5166T>G (p.Asp1722Glu) c.4977T>G (p.Asp1659Glu) c.4974T>G (p.Asp1658Glu) c.1194T>G (p.Asp398Glu) c.4989T>G (p.Asp1663Glu) c.4971T>G (p.Asp1657Glu) c.1326T>G (p.Asp442Glu) c.4992T>G (p.Asp1664Glu) c.5100T>G (p.Asp1700Glu) n.11458T>G n.11449T>G | |
10 | g.53806636A>G | CA469545828 | PCDH15 | c.4025T>C c.5166T>C (p.Asp1722=) c.4977T>C (p.Asp1659=) c.4974T>C (p.Asp1658=) c.1194T>C (p.Asp398=) c.4989T>C (p.Asp1663=) c.4971T>C (p.Asp1657=) c.1326T>C (p.Asp442=) c.4992T>C (p.Asp1664=) c.5100T>C (p.Asp1700=) n.11458T>C n.11449T>C | |
10 | g.53806636A>T | CA376515798 | PCDH15 | c.4025T>A c.5166T>A (p.Asp1722Glu) c.4977T>A (p.Asp1659Glu) c.4974T>A (p.Asp1658Glu) c.1194T>A (p.Asp398Glu) c.4989T>A (p.Asp1663Glu) c.4971T>A (p.Asp1657Glu) c.1326T>A (p.Asp442Glu) c.4992T>A (p.Asp1664Glu) c.5100T>A (p.Asp1700Glu) n.11458T>A n.11449T>A | |
10 | g.53806636_53806639dup | CA5504496 | PCDH15 | c.4022_4025dup c.5163_5166dup (p.Glu1723Ter) c.4974_4977dup (p.Glu1660Ter) c.4971_4974dup (p.Glu1659Ter) c.1191_1194dup (p.Glu399Ter) c.4986_4989dup (p.Glu1664Ter) c.4968_4971dup (p.Glu1658Ter) c.1323_1326dup (p.Glu443Ter) c.4989_4992dup (p.Glu1665Ter) c.5097_5100dup (p.Glu1701Ter) n.11455_11458dup n.11446_11449dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806637T>A | CA376515799 | PCDH15 | c.4024A>T c.5165A>T (p.Asp1722Val) c.4976A>T (p.Asp1659Val) c.4973A>T (p.Asp1658Val) c.1193A>T (p.Asp398Val) c.4988A>T (p.Asp1663Val) c.4970A>T (p.Asp1657Val) c.1325A>T (p.Asp442Val) c.4991A>T (p.Asp1664Val) c.5099A>T (p.Asp1700Val) n.11457A>T n.11448A>T | |
10 | g.53806637T>C | CA376515800 | PCDH15 | c.4024A>G c.5165A>G (p.Asp1722Gly) c.4976A>G (p.Asp1659Gly) c.4973A>G (p.Asp1658Gly) c.1193A>G (p.Asp398Gly) c.4988A>G (p.Asp1663Gly) c.4970A>G (p.Asp1657Gly) c.1325A>G (p.Asp442Gly) c.4991A>G (p.Asp1664Gly) c.5099A>G (p.Asp1700Gly) n.11457A>G n.11448A>G | |
10 | g.53806637T>G | CA376515801 | PCDH15 | c.4024A>C c.5165A>C (p.Asp1722Ala) c.4976A>C (p.Asp1659Ala) c.4973A>C (p.Asp1658Ala) c.1193A>C (p.Asp398Ala) c.4988A>C (p.Asp1663Ala) c.4970A>C (p.Asp1657Ala) c.1325A>C (p.Asp442Ala) c.4991A>C (p.Asp1664Ala) c.5099A>C (p.Asp1700Ala) n.11457A>C n.11448A>C | gnomAD v4 |
10 | g.53806638C>A | CA376515802 | PCDH15 | c.4023G>T c.5164G>T (p.Asp1722Tyr) c.4975G>T (p.Asp1659Tyr) c.4972G>T (p.Asp1658Tyr) c.1192G>T (p.Asp398Tyr) c.4987G>T (p.Asp1663Tyr) c.4969G>T (p.Asp1657Tyr) c.1324G>T (p.Asp442Tyr) c.4990G>T (p.Asp1664Tyr) c.5098G>T (p.Asp1700Tyr) n.11456G>T n.11447G>T | |
10 | g.53806638C= | CA1910755832 | PCDH15 | c.4023G= c.5164G= (p.Asp1722=) c.4975G= (p.Asp1659=) c.4972G= (p.Asp1658=) c.1192G= (p.Asp398=) c.4987G= (p.Asp1663=) c.4969G= (p.Asp1657=) c.1324G= (p.Asp442=) c.4990G= (p.Asp1664=) c.5098G= (p.Asp1700=) n.11456G= n.11447G= | |
10 | g.53806638C>G | CA376515803 | PCDH15 | c.4023G>C c.5164G>C (p.Asp1722His) c.4975G>C (p.Asp1659His) c.4972G>C (p.Asp1658His) c.1192G>C (p.Asp398His) c.4987G>C (p.Asp1663His) c.4969G>C (p.Asp1657His) c.1324G>C (p.Asp442His) c.4990G>C (p.Asp1664His) c.5098G>C (p.Asp1700His) n.11456G>C n.11447G>C | |
10 | g.53806638C>T | CA5504497 | PCDH15 | c.4023G>A c.5164G>A (p.Asp1722Asn) c.4975G>A (p.Asp1659Asn) c.4972G>A (p.Asp1658Asn) c.1192G>A (p.Asp398Asn) c.4987G>A (p.Asp1663Asn) c.4969G>A (p.Asp1657Asn) c.1324G>A (p.Asp442Asn) c.4990G>A (p.Asp1664Asn) c.5098G>A (p.Asp1700Asn) n.11456G>A n.11447G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806639A>C | CA376515804 | PCDH15 | c.4022T>G c.5163T>G (p.Asp1721Glu) c.4974T>G (p.Asp1658Glu) c.4971T>G (p.Asp1657Glu) c.1191T>G (p.Asp397Glu) c.4986T>G (p.Asp1662Glu) c.4968T>G (p.Asp1656Glu) c.1323T>G (p.Asp441Glu) c.4989T>G (p.Asp1663Glu) c.5097T>G (p.Asp1699Glu) n.11455T>G n.11446T>G | |
10 | g.53806639A>G | CA469545829 | PCDH15 | c.4022T>C c.5163T>C (p.Asp1721=) c.4974T>C (p.Asp1658=) c.4971T>C (p.Asp1657=) c.1191T>C (p.Asp397=) c.4986T>C (p.Asp1662=) c.4968T>C (p.Asp1656=) c.1323T>C (p.Asp441=) c.4989T>C (p.Asp1663=) c.5097T>C (p.Asp1699=) n.11455T>C n.11446T>C | gnomAD v4 |
10 | g.53806639A>T | CA376515805 | PCDH15 | c.4022T>A c.5163T>A (p.Asp1721Glu) c.4974T>A (p.Asp1658Glu) c.4971T>A (p.Asp1657Glu) c.1191T>A (p.Asp397Glu) c.4986T>A (p.Asp1662Glu) c.4968T>A (p.Asp1656Glu) c.1323T>A (p.Asp441Glu) c.4989T>A (p.Asp1663Glu) c.5097T>A (p.Asp1699Glu) n.11455T>A n.11446T>A | gnomAD v4 |
10 | g.53806639_53806642dup | CA2574549895 | PCDH15 | c.4019_4022dup c.5160_5163dup (p.Asp1722Ter) c.4971_4974dup (p.Asp1659Ter) c.4968_4971dup (p.Asp1658Ter) c.1188_1191dup (p.Asp398Ter) c.4983_4986dup (p.Asp1663Ter) c.4965_4968dup (p.Asp1657Ter) c.1320_1323dup (p.Asp442Ter) c.4986_4989dup (p.Asp1664Ter) c.5094_5097dup (p.Asp1700Ter) n.11452_11455dup n.11443_11446dup | gnomAD v4 |
10 | g.53806640T>A | CA376515806 | PCDH15 | c.4021A>T c.5162A>T (p.Asp1721Val) c.4973A>T (p.Asp1658Val) c.4970A>T (p.Asp1657Val) c.1190A>T (p.Asp397Val) c.4985A>T (p.Asp1662Val) c.4967A>T (p.Asp1656Val) c.1322A>T (p.Asp441Val) c.4988A>T (p.Asp1663Val) c.5096A>T (p.Asp1699Val) n.11454A>T n.11445A>T | |
10 | g.53806640T>C | CA376515808 | PCDH15 | c.4021A>G c.5162A>G (p.Asp1721Gly) c.4973A>G (p.Asp1658Gly) c.4970A>G (p.Asp1657Gly) c.1190A>G (p.Asp397Gly) c.4985A>G (p.Asp1662Gly) c.4967A>G (p.Asp1656Gly) c.1322A>G (p.Asp441Gly) c.4988A>G (p.Asp1663Gly) c.5096A>G (p.Asp1699Gly) n.11454A>G n.11445A>G | COSMIC |
10 | g.53806640T>G | CA376515807 | PCDH15 | c.4021A>C c.5162A>C (p.Asp1721Ala) c.4973A>C (p.Asp1658Ala) c.4970A>C (p.Asp1657Ala) c.1190A>C (p.Asp397Ala) c.4985A>C (p.Asp1662Ala) c.4967A>C (p.Asp1656Ala) c.1322A>C (p.Asp441Ala) c.4988A>C (p.Asp1663Ala) c.5096A>C (p.Asp1699Ala) n.11454A>C n.11445A>C | |
10 | g.53806641C>A | CA376515809 | PCDH15 | c.4020G>T c.5161G>T (p.Asp1721Tyr) c.4972G>T (p.Asp1658Tyr) c.4969G>T (p.Asp1657Tyr) c.1189G>T (p.Asp397Tyr) c.4984G>T (p.Asp1662Tyr) c.4966G>T (p.Asp1656Tyr) c.1321G>T (p.Asp441Tyr) c.4987G>T (p.Asp1663Tyr) c.5095G>T (p.Asp1699Tyr) n.11453G>T n.11444G>T | |
10 | g.53806641C>G | CA376515811 | PCDH15 | c.4020G>C c.5161G>C (p.Asp1721His) c.4972G>C (p.Asp1658His) c.4969G>C (p.Asp1657His) c.1189G>C (p.Asp397His) c.4984G>C (p.Asp1662His) c.4966G>C (p.Asp1656His) c.1321G>C (p.Asp441His) c.4987G>C (p.Asp1663His) c.5095G>C (p.Asp1699His) n.11453G>C n.11444G>C | gnomAD v4 |
10 | g.53806641C>T | CA376515810 | PCDH15 | c.4020G>A c.5161G>A (p.Asp1721Asn) c.4972G>A (p.Asp1658Asn) c.4969G>A (p.Asp1657Asn) c.1189G>A (p.Asp397Asn) c.4984G>A (p.Asp1662Asn) c.4966G>A (p.Asp1656Asn) c.1321G>A (p.Asp441Asn) c.4987G>A (p.Asp1663Asn) c.5095G>A (p.Asp1699Asn) n.11453G>A n.11444G>A | gnomAD v4 |
10 | g.53806642A>C | CA469545830 | PCDH15 | c.4019T>G c.5160T>G (p.Ser1720=) c.4971T>G (p.Ser1657=) c.4968T>G (p.Ser1656=) c.1188T>G (p.Ser396=) c.4983T>G (p.Ser1661=) c.4965T>G (p.Ser1655=) c.1320T>G (p.Ser440=) c.4986T>G (p.Ser1662=) c.5094T>G (p.Ser1698=) n.11452T>G n.11443T>G | |
10 | g.53806642A>G | CA469545831 | PCDH15 | c.4019T>C c.5160T>C (p.Ser1720=) c.4971T>C (p.Ser1657=) c.4968T>C (p.Ser1656=) c.1188T>C (p.Ser396=) c.4983T>C (p.Ser1661=) c.4965T>C (p.Ser1655=) c.1320T>C (p.Ser440=) c.4986T>C (p.Ser1662=) c.5094T>C (p.Ser1698=) n.11452T>C n.11443T>C | |
10 | g.53806642A>T | CA469545832 | PCDH15 | c.4019T>A c.5160T>A (p.Ser1720=) c.4971T>A (p.Ser1657=) c.4968T>A (p.Ser1656=) c.1188T>A (p.Ser396=) c.4983T>A (p.Ser1661=) c.4965T>A (p.Ser1655=) c.1320T>A (p.Ser440=) c.4986T>A (p.Ser1662=) c.5094T>A (p.Ser1698=) n.11452T>A n.11443T>A | |
10 | g.53806643G>A | CA376515812 | PCDH15 | c.4018C>T c.5159C>T (p.Ser1720Phe) c.4970C>T (p.Ser1657Phe) c.4967C>T (p.Ser1656Phe) c.1187C>T (p.Ser396Phe) c.4982C>T (p.Ser1661Phe) c.4964C>T (p.Ser1655Phe) c.1319C>T (p.Ser440Phe) c.4985C>T (p.Ser1662Phe) c.5093C>T (p.Ser1698Phe) n.11451C>T n.11442C>T | |
10 | g.53806643G>C | CA376515813 | PCDH15 | c.4018C>G c.5159C>G (p.Ser1720Cys) c.4970C>G (p.Ser1657Cys) c.4967C>G (p.Ser1656Cys) c.1187C>G (p.Ser396Cys) c.4982C>G (p.Ser1661Cys) c.4964C>G (p.Ser1655Cys) c.1319C>G (p.Ser440Cys) c.4985C>G (p.Ser1662Cys) c.5093C>G (p.Ser1698Cys) n.11451C>G n.11442C>G | dbSNP gnomAD v4 |
10 | g.53806643G= | CA1910755835 | PCDH15 | c.4018C= c.5159C= (p.Ser1720=) c.4970C= (p.Ser1657=) c.4967C= (p.Ser1656=) c.1187C= (p.Ser396=) c.4982C= (p.Ser1661=) c.4964C= (p.Ser1655=) c.1319C= (p.Ser440=) c.4985C= (p.Ser1662=) c.5093C= (p.Ser1698=) n.11451C= n.11442C= | |
10 | g.53806643G>T | CA376515814 | PCDH15 | c.4018C>A c.5159C>A (p.Ser1720Tyr) c.4970C>A (p.Ser1657Tyr) c.4967C>A (p.Ser1656Tyr) c.1187C>A (p.Ser396Tyr) c.4982C>A (p.Ser1661Tyr) c.4964C>A (p.Ser1655Tyr) c.1319C>A (p.Ser440Tyr) c.4985C>A (p.Ser1662Tyr) c.5093C>A (p.Ser1698Tyr) n.11451C>A n.11442C>A | |
10 | g.53806644_53806647dup | CA2609218336 | PCDH15 | c.4015_4018dup c.5156_5159dup (p.Asp1721ValfsTer2) c.4967_4970dup (p.Asp1658ValfsTer2) c.4964_4967dup (p.Asp1657ValfsTer2) c.1184_1187dup (p.Asp397ValfsTer2) c.4979_4982dup (p.Asp1662ValfsTer2) c.4961_4964dup (p.Asp1656ValfsTer2) c.1316_1319dup (p.Asp441ValfsTer2) c.4982_4985dup (p.Asp1663ValfsTer2) c.5090_5093dup (p.Asp1699ValfsTer2) n.11448_11451dup n.11439_11442dup | gnomAD v4 |
10 | g.53806644A>C | CA376515815 | PCDH15 | c.4017T>G c.5158T>G (p.Ser1720Ala) c.4969T>G (p.Ser1657Ala) c.4966T>G (p.Ser1656Ala) c.1186T>G (p.Ser396Ala) c.4981T>G (p.Ser1661Ala) c.4963T>G (p.Ser1655Ala) c.1318T>G (p.Ser440Ala) c.4984T>G (p.Ser1662Ala) c.5092T>G (p.Ser1698Ala) n.11450T>G n.11441T>G | |
10 | g.53806644A>G | CA376515816 | PCDH15 | c.4017T>C c.5158T>C (p.Ser1720Pro) c.4969T>C (p.Ser1657Pro) c.4966T>C (p.Ser1656Pro) c.1186T>C (p.Ser396Pro) c.4981T>C (p.Ser1661Pro) c.4963T>C (p.Ser1655Pro) c.1318T>C (p.Ser440Pro) c.4984T>C (p.Ser1662Pro) c.5092T>C (p.Ser1698Pro) n.11450T>C n.11441T>C | |
10 | g.53806644A>T | CA376515817 | PCDH15 | c.4017T>A c.5158T>A (p.Ser1720Thr) c.4969T>A (p.Ser1657Thr) c.4966T>A (p.Ser1656Thr) c.1186T>A (p.Ser396Thr) c.4981T>A (p.Ser1661Thr) c.4963T>A (p.Ser1655Thr) c.1318T>A (p.Ser440Thr) c.4984T>A (p.Ser1662Thr) c.5092T>A (p.Ser1698Thr) n.11450T>A n.11441T>A | |
10 | g.53806645C>A | CA376515818 | PCDH15 | c.4016G>T c.5157G>T (p.Gln1719His) c.4968G>T (p.Gln1656His) c.4965G>T (p.Gln1655His) c.1185G>T (p.Gln395His) c.4980G>T (p.Gln1660His) c.4962G>T (p.Gln1654His) c.1317G>T (p.Gln439His) c.4983G>T (p.Gln1661His) c.5091G>T (p.Gln1697His) n.11449G>T n.11440G>T | dbSNP |
10 | g.53806645C= | CA1910755837 | PCDH15 | c.4016G= c.5157G= (p.Gln1719=) c.4968G= (p.Gln1656=) c.4965G= (p.Gln1655=) c.1185G= (p.Gln395=) c.4980G= (p.Gln1660=) c.4962G= (p.Gln1654=) c.1317G= (p.Gln439=) c.4983G= (p.Gln1661=) c.5091G= (p.Gln1697=) n.11449G= n.11440G= | |
10 | g.53806645C>G | CA376515819 | PCDH15 | c.4016G>C c.5157G>C (p.Gln1719His) c.4968G>C (p.Gln1656His) c.4965G>C (p.Gln1655His) c.1185G>C (p.Gln395His) c.4980G>C (p.Gln1660His) c.4962G>C (p.Gln1654His) c.1317G>C (p.Gln439His) c.4983G>C (p.Gln1661His) c.5091G>C (p.Gln1697His) n.11449G>C n.11440G>C | |
10 | g.53806645C>T | CA5504498 | PCDH15 | c.4016G>A c.5157G>A (p.Gln1719=) c.4968G>A (p.Gln1656=) c.4965G>A (p.Gln1655=) c.1185G>A (p.Gln395=) c.4980G>A (p.Gln1660=) c.4962G>A (p.Gln1654=) c.1317G>A (p.Gln439=) c.4983G>A (p.Gln1661=) c.5091G>A (p.Gln1697=) n.11449G>A n.11440G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806645_53806649delinsCTGTG | CA1910755838 | PCDH15 | c.4012_4016delinsCACAG c.5153_5157delinsCACAG (p.Thr1718=) c.4964_4968delinsCACAG (p.Thr1655=) c.4961_4965delinsCACAG (p.Thr1654=) c.1181_1185delinsCACAG (p.Thr394=) c.4976_4980delinsCACAG (p.Thr1659=) c.4958_4962delinsCACAG (p.Thr1653=) c.1313_1317delinsCACAG (p.Thr438=) c.4979_4983delinsCACAG (p.Thr1660=) c.5087_5091delinsCACAG (p.Thr1696=) n.11445_11449delinsCACAG n.11436_11440delinsCACAG | |
10 | g.53806646T>A | CA376515820 | PCDH15 | c.4015A>T c.5156A>T (p.Gln1719Leu) c.4967A>T (p.Gln1656Leu) c.4964A>T (p.Gln1655Leu) c.1184A>T (p.Gln395Leu) c.4979A>T (p.Gln1660Leu) c.4961A>T (p.Gln1654Leu) c.1316A>T (p.Gln439Leu) c.4982A>T (p.Gln1661Leu) c.5090A>T (p.Gln1697Leu) n.11448A>T n.11439A>T | gnomAD v4 |
10 | g.53806646T>C | CA376515821 | PCDH15 | c.4015A>G c.5156A>G (p.Gln1719Arg) c.4967A>G (p.Gln1656Arg) c.4964A>G (p.Gln1655Arg) c.1184A>G (p.Gln395Arg) c.4979A>G (p.Gln1660Arg) c.4961A>G (p.Gln1654Arg) c.1316A>G (p.Gln439Arg) c.4982A>G (p.Gln1661Arg) c.5090A>G (p.Gln1697Arg) n.11448A>G n.11439A>G | |
10 | g.53806646T>G | CA5504500 | PCDH15 | c.4015A>C c.5156A>C (p.Gln1719Pro) c.4967A>C (p.Gln1656Pro) c.4964A>C (p.Gln1655Pro) c.1184A>C (p.Gln395Pro) c.4979A>C (p.Gln1660Pro) c.4961A>C (p.Gln1654Pro) c.1316A>C (p.Gln439Pro) c.4982A>C (p.Gln1661Pro) c.5090A>C (p.Gln1697Pro) n.11448A>C n.11439A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806646T= | CA1910755848 | PCDH15 | c.4015A= c.5156A= (p.Gln1719=) c.4967A= (p.Gln1656=) c.4964A= (p.Gln1655=) c.1184A= (p.Gln395=) c.4979A= (p.Gln1660=) c.4961A= (p.Gln1654=) c.1316A= (p.Gln439=) c.4982A= (p.Gln1661=) c.5090A= (p.Gln1697=) n.11448A= n.11439A= | |
10 | g.53806650_53806653dup | CA666450795 | PCDH15 | c.4012_4015dup c.5153_5156dup (p.Gln1719HisfsTer4) c.4964_4967dup (p.Gln1656HisfsTer4) c.4961_4964dup (p.Gln1655HisfsTer4) c.1181_1184dup (p.Gln395HisfsTer4) c.4976_4979dup (p.Gln1660HisfsTer4) c.4958_4961dup (p.Gln1654HisfsTer4) c.1313_1316dup (p.Gln439HisfsTer4) c.4979_4982dup (p.Gln1661HisfsTer4) c.5087_5090dup (p.Gln1697HisfsTer4) n.11445_11448dup n.11436_11439dup | dbSNP gnomAD v3 gnomAD v4 |
10 | g.53806650_53806653del | CA5504499 | PCDH15 | c.4012_4015del c.5153_5156del (p.Thr1718SerfsTer19) c.4964_4967del (p.Thr1655SerfsTer19) c.4961_4964del (p.Thr1654SerfsTer19) c.1181_1184del (p.Thr394SerfsTer19) c.4976_4979del (p.Thr1659SerfsTer19) c.4958_4961del (p.Thr1653SerfsTer19) c.1313_1316del (p.Thr438SerfsTer19) c.4979_4982del (p.Thr1660SerfsTer19) c.5087_5090del (p.Thr1696SerfsTer19) n.11445_11448del n.11436_11439del | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806647G>A | CA376515822 | PCDH15 | c.4014C>T c.5155C>T (p.Gln1719Ter) c.4966C>T (p.Gln1656Ter) c.4963C>T (p.Gln1655Ter) c.1183C>T (p.Gln395Ter) c.4978C>T (p.Gln1660Ter) c.4960C>T (p.Gln1654Ter) c.1315C>T (p.Gln439Ter) c.4981C>T (p.Gln1661Ter) c.5089C>T (p.Gln1697Ter) n.11447C>T n.11438C>T | dbSNP |
10 | g.53806647G>C | CA376515824 | PCDH15 | c.4014C>G c.5155C>G (p.Gln1719Glu) c.4966C>G (p.Gln1656Glu) c.4963C>G (p.Gln1655Glu) c.1183C>G (p.Gln395Glu) c.4978C>G (p.Gln1660Glu) c.4960C>G (p.Gln1654Glu) c.1315C>G (p.Gln439Glu) c.4981C>G (p.Gln1661Glu) c.5089C>G (p.Gln1697Glu) n.11447C>G n.11438C>G | |
10 | g.53806647G= | CA1910755854 | PCDH15 | c.4014C= c.5155C= (p.Gln1719=) c.4966C= (p.Gln1656=) c.4963C= (p.Gln1655=) c.1183C= (p.Gln395=) c.4978C= (p.Gln1660=) c.4960C= (p.Gln1654=) c.1315C= (p.Gln439=) c.4981C= (p.Gln1661=) c.5089C= (p.Gln1697=) n.11447C= n.11438C= | |
10 | g.53806647G>T | CA376515823 | PCDH15 | c.4014C>A c.5155C>A (p.Gln1719Lys) c.4966C>A (p.Gln1656Lys) c.4963C>A (p.Gln1655Lys) c.1183C>A (p.Gln395Lys) c.4978C>A (p.Gln1660Lys) c.4960C>A (p.Gln1654Lys) c.1315C>A (p.Gln439Lys) c.4981C>A (p.Gln1661Lys) c.5089C>A (p.Gln1697Lys) n.11447C>A n.11438C>A | |
10 | g.53806648T>A | CA469545833 | PCDH15 | c.4013A>T c.5154A>T (p.Thr1718=) c.4965A>T (p.Thr1655=) c.4962A>T (p.Thr1654=) c.1182A>T (p.Thr394=) c.4977A>T (p.Thr1659=) c.4959A>T (p.Thr1653=) c.1314A>T (p.Thr438=) c.4980A>T (p.Thr1660=) c.5088A>T (p.Thr1696=) n.11446A>T n.11437A>T | |
10 | g.53806648T>C | CA207195693 | PCDH15 | c.4013A>G c.5154A>G (p.Thr1718=) c.4965A>G (p.Thr1655=) c.4962A>G (p.Thr1654=) c.1182A>G (p.Thr394=) c.4977A>G (p.Thr1659=) c.4959A>G (p.Thr1653=) c.1314A>G (p.Thr438=) c.4980A>G (p.Thr1660=) c.5088A>G (p.Thr1696=) n.11446A>G n.11437A>G | dbSNP gnomAD v4 |
10 | g.53806648T>G | CA469545834 | PCDH15 | c.4013A>C c.5154A>C (p.Thr1718=) c.4965A>C (p.Thr1655=) c.4962A>C (p.Thr1654=) c.1182A>C (p.Thr394=) c.4977A>C (p.Thr1659=) c.4959A>C (p.Thr1653=) c.1314A>C (p.Thr438=) c.4980A>C (p.Thr1660=) c.5088A>C (p.Thr1696=) n.11446A>C n.11437A>C | |
10 | g.53806648T= | CA1910755860 | PCDH15 | c.4013A= c.5154A= (p.Thr1718=) c.4965A= (p.Thr1655=) c.4962A= (p.Thr1654=) c.1182A= (p.Thr394=) c.4977A= (p.Thr1659=) c.4959A= (p.Thr1653=) c.1314A= (p.Thr438=) c.4980A= (p.Thr1660=) c.5088A= (p.Thr1696=) n.11446A= n.11437A= | |
10 | g.53806649G>A | CA376515825 | PCDH15 | c.4012C>T c.5153C>T (p.Thr1718Ile) c.4964C>T (p.Thr1655Ile) c.4961C>T (p.Thr1654Ile) c.1181C>T (p.Thr394Ile) c.4976C>T (p.Thr1659Ile) c.4958C>T (p.Thr1653Ile) c.1313C>T (p.Thr438Ile) c.4979C>T (p.Thr1660Ile) c.5087C>T (p.Thr1696Ile) n.11445C>T n.11436C>T | gnomAD v4 |
10 | g.53806649G>C | CA376515826 | PCDH15 | c.4012C>G c.5153C>G (p.Thr1718Arg) c.4964C>G (p.Thr1655Arg) c.4961C>G (p.Thr1654Arg) c.1181C>G (p.Thr394Arg) c.4976C>G (p.Thr1659Arg) c.4958C>G (p.Thr1653Arg) c.1313C>G (p.Thr438Arg) c.4979C>G (p.Thr1660Arg) c.5087C>G (p.Thr1696Arg) n.11445C>G n.11436C>G | |
10 | g.53806649G>T | CA376515827 | PCDH15 | c.4012C>A c.5153C>A (p.Thr1718Lys) c.4964C>A (p.Thr1655Lys) c.4961C>A (p.Thr1654Lys) c.1181C>A (p.Thr394Lys) c.4976C>A (p.Thr1659Lys) c.4958C>A (p.Thr1653Lys) c.1313C>A (p.Thr438Lys) c.4979C>A (p.Thr1660Lys) c.5087C>A (p.Thr1696Lys) n.11445C>A n.11436C>A | |
10 | g.53806650T>A | CA376515828 | PCDH15 | c.4011A>T c.5152A>T (p.Thr1718Ser) c.4963A>T (p.Thr1655Ser) c.4960A>T (p.Thr1654Ser) c.1180A>T (p.Thr394Ser) c.4975A>T (p.Thr1659Ser) c.4957A>T (p.Thr1653Ser) c.1312A>T (p.Thr438Ser) c.4978A>T (p.Thr1660Ser) c.5086A>T (p.Thr1696Ser) n.11444A>T n.11435A>T | |
10 | g.53806650T>C | CA376515829 | PCDH15 | c.4011A>G c.5152A>G (p.Thr1718Ala) c.4963A>G (p.Thr1655Ala) c.4960A>G (p.Thr1654Ala) c.1180A>G (p.Thr394Ala) c.4975A>G (p.Thr1659Ala) c.4957A>G (p.Thr1653Ala) c.1312A>G (p.Thr438Ala) c.4978A>G (p.Thr1660Ala) c.5086A>G (p.Thr1696Ala) n.11444A>G n.11435A>G | dbSNP gnomAD v4 |
10 | g.53806650T>G | CA376515830 | PCDH15 | c.4011A>C c.5152A>C (p.Thr1718Pro) c.4963A>C (p.Thr1655Pro) c.4960A>C (p.Thr1654Pro) c.1180A>C (p.Thr394Pro) c.4975A>C (p.Thr1659Pro) c.4957A>C (p.Thr1653Pro) c.1312A>C (p.Thr438Pro) c.4978A>C (p.Thr1660Pro) c.5086A>C (p.Thr1696Pro) n.11444A>C n.11435A>C | gnomAD v4 |
10 | g.53806650T= | CA1910755861 | PCDH15 | c.4011A= c.5152A= (p.Thr1718=) c.4963A= (p.Thr1655=) c.4960A= (p.Thr1654=) c.1180A= (p.Thr394=) c.4975A= (p.Thr1659=) c.4957A= (p.Thr1653=) c.1312A= (p.Thr438=) c.4978A= (p.Thr1660=) c.5086A= (p.Thr1696=) n.11444A= n.11435A= | |
10 | g.53806651G>A | CA469545835 | PCDH15 | c.4010C>T c.5151C>T (p.His1717=) c.4962C>T (p.His1654=) c.4959C>T (p.His1653=) c.1179C>T (p.His393=) c.4974C>T (p.His1658=) c.4956C>T (p.His1652=) c.1311C>T (p.His437=) c.4977C>T (p.His1659=) c.5085C>T (p.His1695=) n.11443C>T n.11434C>T | |
10 | g.53806651G>C | CA376515831 | PCDH15 | c.4010C>G c.5151C>G (p.His1717Gln) c.4962C>G (p.His1654Gln) c.4959C>G (p.His1653Gln) c.1179C>G (p.His393Gln) c.4974C>G (p.His1658Gln) c.4956C>G (p.His1652Gln) c.1311C>G (p.His437Gln) c.4977C>G (p.His1659Gln) c.5085C>G (p.His1695Gln) n.11443C>G n.11434C>G | |
10 | g.53806651G>T | CA376515832 | PCDH15 | c.4010C>A c.5151C>A (p.His1717Gln) c.4962C>A (p.His1654Gln) c.4959C>A (p.His1653Gln) c.1179C>A (p.His393Gln) c.4974C>A (p.His1658Gln) c.4956C>A (p.His1652Gln) c.1311C>A (p.His437Gln) c.4977C>A (p.His1659Gln) c.5085C>A (p.His1695Gln) n.11443C>A n.11434C>A | |
10 | g.53806652T>A | CA376515835 | PCDH15 | c.4009A>T c.5150A>T (p.His1717Leu) c.4961A>T (p.His1654Leu) c.4958A>T (p.His1653Leu) c.1178A>T (p.His393Leu) c.4973A>T (p.His1658Leu) c.4955A>T (p.His1652Leu) c.1310A>T (p.His437Leu) c.4976A>T (p.His1659Leu) c.5084A>T (p.His1695Leu) n.11442A>T n.11433A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806652T>C | CA376515837 | PCDH15 | c.4009A>G c.5150A>G (p.His1717Arg) c.4961A>G (p.His1654Arg) c.4958A>G (p.His1653Arg) c.1178A>G (p.His393Arg) c.4973A>G (p.His1658Arg) c.4955A>G (p.His1652Arg) c.1310A>G (p.His437Arg) c.4976A>G (p.His1659Arg) c.5084A>G (p.His1695Arg) n.11442A>G n.11433A>G | |
10 | g.53806652T>G | CA376515834 | PCDH15 | c.4009A>C c.5150A>C (p.His1717Pro) c.4961A>C (p.His1654Pro) c.4958A>C (p.His1653Pro) c.1178A>C (p.His393Pro) c.4973A>C (p.His1658Pro) c.4955A>C (p.His1652Pro) c.1310A>C (p.His437Pro) c.4976A>C (p.His1659Pro) c.5084A>C (p.His1695Pro) n.11442A>C n.11433A>C | |
10 | g.53806652T= | CA1910755863 | PCDH15 | c.4009A= c.5150A= (p.His1717=) c.4961A= (p.His1654=) c.4958A= (p.His1653=) c.1178A= (p.His393=) c.4973A= (p.His1658=) c.4955A= (p.His1652=) c.1310A= (p.His437=) c.4976A= (p.His1659=) c.5084A= (p.His1695=) n.11442A= n.11433A= | |
10 | g.53806653G>A | CA376515838 | PCDH15 | c.4008C>T c.5149C>T (p.His1717Tyr) c.4960C>T (p.His1654Tyr) c.4957C>T (p.His1653Tyr) c.1177C>T (p.His393Tyr) c.4972C>T (p.His1658Tyr) c.4954C>T (p.His1652Tyr) c.1309C>T (p.His437Tyr) c.4975C>T (p.His1659Tyr) c.5083C>T (p.His1695Tyr) n.11441C>T n.11432C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.53806653G>C | CA376515840 | PCDH15 | c.4008C>G c.5149C>G (p.His1717Asp) c.4960C>G (p.His1654Asp) c.4957C>G (p.His1653Asp) c.1177C>G (p.His393Asp) c.4972C>G (p.His1658Asp) c.4954C>G (p.His1652Asp) c.1309C>G (p.His437Asp) c.4975C>G (p.His1659Asp) c.5083C>G (p.His1695Asp) n.11441C>G n.11432C>G | gnomAD v4 |
10 | g.53806653G= | CA1910755870 | PCDH15 | c.4008C= c.5149C= (p.His1717=) c.4960C= (p.His1654=) c.4957C= (p.His1653=) c.1177C= (p.His393=) c.4972C= (p.His1658=) c.4954C= (p.His1652=) c.1309C= (p.His437=) c.4975C= (p.His1659=) c.5083C= (p.His1695=) n.11441C= n.11432C= | |
10 | g.53806653G>T | CA376515841 | PCDH15 | c.4008C>A c.5149C>A (p.His1717Asn) c.4960C>A (p.His1654Asn) c.4957C>A (p.His1653Asn) c.1177C>A (p.His393Asn) c.4972C>A (p.His1658Asn) c.4954C>A (p.His1652Asn) c.1309C>A (p.His437Asn) c.4975C>A (p.His1659Asn) c.5083C>A (p.His1695Asn) n.11441C>A n.11432C>A | gnomAD v4 |
10 | g.53806654G>A | CA469545836 | PCDH15 | c.4007C>T c.5148C>T (p.Asp1716=) c.4959C>T (p.Asp1653=) c.4956C>T (p.Asp1652=) c.1176C>T (p.Asp392=) c.4971C>T (p.Asp1657=) c.4953C>T (p.Asp1651=) c.1308C>T (p.Asp436=) c.4974C>T (p.Asp1658=) c.5082C>T (p.Asp1694=) n.11440C>T n.11431C>T | dbSNP |
10 | g.53806654G>C | CA376515843 | PCDH15 | c.4007C>G c.5148C>G (p.Asp1716Glu) c.4959C>G (p.Asp1653Glu) c.4956C>G (p.Asp1652Glu) c.1176C>G (p.Asp392Glu) c.4971C>G (p.Asp1657Glu) c.4953C>G (p.Asp1651Glu) c.1308C>G (p.Asp436Glu) c.4974C>G (p.Asp1658Glu) c.5082C>G (p.Asp1694Glu) n.11440C>G n.11431C>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.53806654G= | CA1910755873 | PCDH15 | c.4007C= c.5148C= (p.Asp1716=) c.4959C= (p.Asp1653=) c.4956C= (p.Asp1652=) c.1176C= (p.Asp392=) c.4971C= (p.Asp1657=) c.4953C= (p.Asp1651=) c.1308C= (p.Asp436=) c.4974C= (p.Asp1658=) c.5082C= (p.Asp1694=) n.11440C= n.11431C= | |
10 | g.53806654G>T | CA376515844 | PCDH15 | c.4007C>A c.5148C>A (p.Asp1716Glu) c.4959C>A (p.Asp1653Glu) c.4956C>A (p.Asp1652Glu) c.1176C>A (p.Asp392Glu) c.4971C>A (p.Asp1657Glu) c.4953C>A (p.Asp1651Glu) c.1308C>A (p.Asp436Glu) c.4974C>A (p.Asp1658Glu) c.5082C>A (p.Asp1694Glu) n.11440C>A n.11431C>A | |
10 | g.53806655T>A | CA376515849 | PCDH15 | c.4006A>T c.5147A>T (p.Asp1716Val) c.4958A>T (p.Asp1653Val) c.4955A>T (p.Asp1652Val) c.1175A>T (p.Asp392Val) c.4970A>T (p.Asp1657Val) c.4952A>T (p.Asp1651Val) c.1307A>T (p.Asp436Val) c.4973A>T (p.Asp1658Val) c.5081A>T (p.Asp1694Val) n.11439A>T n.11430A>T | gnomAD v4 |
10 | g.53806655T>C | CA376515846 | PCDH15 | c.4006A>G c.5147A>G (p.Asp1716Gly) c.4958A>G (p.Asp1653Gly) c.4955A>G (p.Asp1652Gly) c.1175A>G (p.Asp392Gly) c.4970A>G (p.Asp1657Gly) c.4952A>G (p.Asp1651Gly) c.1307A>G (p.Asp436Gly) c.4973A>G (p.Asp1658Gly) c.5081A>G (p.Asp1694Gly) n.11439A>G n.11430A>G | |
10 | g.53806655T>G | CA376515848 | PCDH15 | c.4006A>C c.5147A>C (p.Asp1716Ala) c.4958A>C (p.Asp1653Ala) c.4955A>C (p.Asp1652Ala) c.1175A>C (p.Asp392Ala) c.4970A>C (p.Asp1657Ala) c.4952A>C (p.Asp1651Ala) c.1307A>C (p.Asp436Ala) c.4973A>C (p.Asp1658Ala) c.5081A>C (p.Asp1694Ala) n.11439A>C n.11430A>C | |
10 | g.53806656C>A | CA376515850 | PCDH15 | c.4005G>T c.5146G>T (p.Asp1716Tyr) c.4957G>T (p.Asp1653Tyr) c.4954G>T (p.Asp1652Tyr) c.1174G>T (p.Asp392Tyr) c.4969G>T (p.Asp1657Tyr) c.4951G>T (p.Asp1651Tyr) c.1306G>T (p.Asp436Tyr) c.4972G>T (p.Asp1658Tyr) c.5080G>T (p.Asp1694Tyr) n.11438G>T n.11429G>T | |
10 | g.53806656C>G | CA376515851 | PCDH15 | c.4005G>C c.5146G>C (p.Asp1716His) c.4957G>C (p.Asp1653His) c.4954G>C (p.Asp1652His) c.1174G>C (p.Asp392His) c.4969G>C (p.Asp1657His) c.4951G>C (p.Asp1651His) c.1306G>C (p.Asp436His) c.4972G>C (p.Asp1658His) c.5080G>C (p.Asp1694His) n.11438G>C n.11429G>C | |
10 | g.53806656C>T | CA376515852 | PCDH15 | c.4005G>A c.5146G>A (p.Asp1716Asn) c.4957G>A (p.Asp1653Asn) c.4954G>A (p.Asp1652Asn) c.1174G>A (p.Asp392Asn) c.4969G>A (p.Asp1657Asn) c.4951G>A (p.Asp1651Asn) c.1306G>A (p.Asp436Asn) c.4972G>A (p.Asp1658Asn) c.5080G>A (p.Asp1694Asn) n.11438G>A n.11429G>A | gnomAD v4 COSMIC |
10 | g.53806657A= | CA1910755878 | PCDH15 | c.4004T= c.5145T= (p.Ser1715=) c.4956T= (p.Ser1652=) c.4953T= (p.Ser1651=) c.1173T= (p.Ser391=) c.4968T= (p.Ser1656=) c.4950T= (p.Ser1650=) c.1305T= (p.Ser435=) c.4971T= (p.Ser1657=) c.5079T= (p.Ser1693=) n.11437T= n.11428T= | |
10 | g.53806657A>C | CA5504501 | PCDH15 | c.4004T>G c.5145T>G (p.Ser1715Arg) c.4956T>G (p.Ser1652Arg) c.4953T>G (p.Ser1651Arg) c.1173T>G (p.Ser391Arg) c.4968T>G (p.Ser1656Arg) c.4950T>G (p.Ser1650Arg) c.1305T>G (p.Ser435Arg) c.4971T>G (p.Ser1657Arg) c.5079T>G (p.Ser1693Arg) n.11437T>G n.11428T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806657A>G | CA469545837 | PCDH15 | c.4004T>C c.5145T>C (p.Ser1715=) c.4956T>C (p.Ser1652=) c.4953T>C (p.Ser1651=) c.1173T>C (p.Ser391=) c.4968T>C (p.Ser1656=) c.4950T>C (p.Ser1650=) c.1305T>C (p.Ser435=) c.4971T>C (p.Ser1657=) c.5079T>C (p.Ser1693=) n.11437T>C n.11428T>C | |
10 | g.53806657A>T | CA376515855 | PCDH15 | c.4004T>A c.5145T>A (p.Ser1715Arg) c.4956T>A (p.Ser1652Arg) c.4953T>A (p.Ser1651Arg) c.1173T>A (p.Ser391Arg) c.4968T>A (p.Ser1656Arg) c.4950T>A (p.Ser1650Arg) c.1305T>A (p.Ser435Arg) c.4971T>A (p.Ser1657Arg) c.5079T>A (p.Ser1693Arg) n.11437T>A n.11428T>A | |
10 | g.53806658C>A | CA376515857 | PCDH15 | c.4003G>T c.5144G>T (p.Ser1715Ile) c.4955G>T (p.Ser1652Ile) c.4952G>T (p.Ser1651Ile) c.1172G>T (p.Ser391Ile) c.4967G>T (p.Ser1656Ile) c.4949G>T (p.Ser1650Ile) c.1304G>T (p.Ser435Ile) c.4970G>T (p.Ser1657Ile) c.5078G>T (p.Ser1693Ile) n.11436G>T n.11427G>T | |
10 | g.53806658C>G | CA376515861 | PCDH15 | c.4003G>C c.5144G>C (p.Ser1715Thr) c.4955G>C (p.Ser1652Thr) c.4952G>C (p.Ser1651Thr) c.1172G>C (p.Ser391Thr) c.4967G>C (p.Ser1656Thr) c.4949G>C (p.Ser1650Thr) c.1304G>C (p.Ser435Thr) c.4970G>C (p.Ser1657Thr) c.5078G>C (p.Ser1693Thr) n.11436G>C n.11427G>C | |
10 | g.53806658C>T | CA376515859 | PCDH15 | c.4003G>A c.5144G>A (p.Ser1715Asn) c.4955G>A (p.Ser1652Asn) c.4952G>A (p.Ser1651Asn) c.1172G>A (p.Ser391Asn) c.4967G>A (p.Ser1656Asn) c.4949G>A (p.Ser1650Asn) c.1304G>A (p.Ser435Asn) c.4970G>A (p.Ser1657Asn) c.5078G>A (p.Ser1693Asn) n.11436G>A n.11427G>A | gnomAD v4 |
10 | g.53806659T>A | CA376515863 | PCDH15 | c.4002A>T c.5143A>T (p.Ser1715Cys) c.4954A>T (p.Ser1652Cys) c.4951A>T (p.Ser1651Cys) c.1171A>T (p.Ser391Cys) c.4966A>T (p.Ser1656Cys) c.4948A>T (p.Ser1650Cys) c.1303A>T (p.Ser435Cys) c.4969A>T (p.Ser1657Cys) c.5077A>T (p.Ser1693Cys) n.11435A>T n.11426A>T | COSMIC |
10 | g.53806659T>C | CA376515864 | PCDH15 | c.4002A>G c.5143A>G (p.Ser1715Gly) c.4954A>G (p.Ser1652Gly) c.4951A>G (p.Ser1651Gly) c.1171A>G (p.Ser391Gly) c.4966A>G (p.Ser1656Gly) c.4948A>G (p.Ser1650Gly) c.1303A>G (p.Ser435Gly) c.4969A>G (p.Ser1657Gly) c.5077A>G (p.Ser1693Gly) n.11435A>G n.11426A>G | gnomAD v4 |
10 | g.53806659T>G | CA376515866 | PCDH15 | c.4002A>C c.5143A>C (p.Ser1715Arg) c.4954A>C (p.Ser1652Arg) c.4951A>C (p.Ser1651Arg) c.1171A>C (p.Ser391Arg) c.4966A>C (p.Ser1656Arg) c.4948A>C (p.Ser1650Arg) c.1303A>C (p.Ser435Arg) c.4969A>C (p.Ser1657Arg) c.5077A>C (p.Ser1693Arg) n.11435A>C n.11426A>C | |
10 | g.53806661_53806690dup | CA2609218337 | PCDH15 | c.3973_4002dup c.5114_5143dup (p.His1714_Ser1715insLysAsnIleLysGluAlaLeuGluPheHis) c.4925_4954dup (p.His1651_Ser1652insLysAsnIleLysGluAlaLeuGluPheHis) c.4922_4951dup (p.His1650_Ser1651insLysAsnIleLysGluAlaLeuGluPheHis) c.1142_1171dup (p.His390_Ser391insLysAsnIleLysGluAlaLeuGluPheHis) c.4937_4966dup (p.His1655_Ser1656insLysAsnIleLysGluAlaLeuGluPheHis) c.4919_4948dup (p.His1649_Ser1650insLysAsnIleLysGluAlaLeuGluPheHis) c.1274_1303dup (p.His434_Ser435insLysAsnIleLysGluAlaLeuGluPheHis) c.4940_4969dup (p.His1656_Ser1657insLysAsnIleLysGluAlaLeuGluPheHis) c.5048_5077dup (p.His1692_Ser1693insLysAsnIleLysGluAlaLeuGluPheHis) n.11406_11435dup n.11397_11426dup | gnomAD v4 |
10 | g.53806660A= | CA1910755882 | PCDH15 | c.4001T= c.5142T= (p.His1714=) c.4953T= (p.His1651=) c.4950T= (p.His1650=) c.1170T= (p.His390=) c.4965T= (p.His1655=) c.4947T= (p.His1649=) c.1302T= (p.His434=) c.4968T= (p.His1656=) c.5076T= (p.His1692=) n.11434T= n.11425T= | |
10 | g.53806660A>C | CA376515868 | PCDH15 | c.4001T>G c.5142T>G (p.His1714Gln) c.4953T>G (p.His1651Gln) c.4950T>G (p.His1650Gln) c.1170T>G (p.His390Gln) c.4965T>G (p.His1655Gln) c.4947T>G (p.His1649Gln) c.1302T>G (p.His434Gln) c.4968T>G (p.His1656Gln) c.5076T>G (p.His1692Gln) n.11434T>G n.11425T>G | |
10 | g.53806660A>G | CA5504502 | PCDH15 | c.4001T>C c.5142T>C (p.His1714=) c.4953T>C (p.His1651=) c.4950T>C (p.His1650=) c.1170T>C (p.His390=) c.4965T>C (p.His1655=) c.4947T>C (p.His1649=) c.1302T>C (p.His434=) c.4968T>C (p.His1656=) c.5076T>C (p.His1692=) n.11434T>C n.11425T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.53806660A>T | CA376515870 | PCDH15 | c.4001T>A c.5142T>A (p.His1714Gln) c.4953T>A (p.His1651Gln) c.4950T>A (p.His1650Gln) c.1170T>A (p.His390Gln) c.4965T>A (p.His1655Gln) c.4947T>A (p.His1649Gln) c.1302T>A (p.His434Gln) c.4968T>A (p.His1656Gln) c.5076T>A (p.His1692Gln) n.11434T>A n.11425T>A | |
10 | g.53806661T>A | CA376515872 | PCDH15 | c.4000A>T c.5141A>T (p.His1714Leu) c.4952A>T (p.His1651Leu) c.4949A>T (p.His1650Leu) c.1169A>T (p.His390Leu) c.4964A>T (p.His1655Leu) c.4946A>T (p.His1649Leu) c.1301A>T (p.His434Leu) c.4967A>T (p.His1656Leu) c.5075A>T (p.His1692Leu) n.11433A>T n.11424A>T | dbSNP |
10 | g.53806661T>C | CA5504503 | PCDH15 | c.4000A>G c.5141A>G (p.His1714Arg) c.4952A>G (p.His1651Arg) c.4949A>G (p.His1650Arg) c.1169A>G (p.His390Arg) c.4964A>G (p.His1655Arg) c.4946A>G (p.His1649Arg) c.1301A>G (p.His434Arg) c.4967A>G (p.His1656Arg) c.5075A>G (p.His1692Arg) n.11433A>G n.11424A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806661T>G | CA376515874 | PCDH15 | c.4000A>C c.5141A>C (p.His1714Pro) c.4952A>C (p.His1651Pro) c.4949A>C (p.His1650Pro) c.1169A>C (p.His390Pro) c.4964A>C (p.His1655Pro) c.4946A>C (p.His1649Pro) c.1301A>C (p.His434Pro) c.4967A>C (p.His1656Pro) c.5075A>C (p.His1692Pro) n.11433A>C n.11424A>C | gnomAD v4 |
10 | g.53806661T= | CA1910755885 | PCDH15 | c.4000A= c.5141A= (p.His1714=) c.4952A= (p.His1651=) c.4949A= (p.His1650=) c.1169A= (p.His390=) c.4964A= (p.His1655=) c.4946A= (p.His1649=) c.1301A= (p.His434=) c.4967A= (p.His1656=) c.5075A= (p.His1692=) n.11433A= n.11424A= | |
10 | g.53806662G>A | CA376515876 | PCDH15 | c.3999C>T c.5140C>T (p.His1714Tyr) c.4951C>T (p.His1651Tyr) c.4948C>T (p.His1650Tyr) c.1168C>T (p.His390Tyr) c.4963C>T (p.His1655Tyr) c.4945C>T (p.His1649Tyr) c.1300C>T (p.His434Tyr) c.4966C>T (p.His1656Tyr) c.5074C>T (p.His1692Tyr) n.11432C>T n.11423C>T | COSMIC |
10 | g.53806662G>C | CA376515877 | PCDH15 | c.3999C>G c.5140C>G (p.His1714Asp) c.4951C>G (p.His1651Asp) c.4948C>G (p.His1650Asp) c.1168C>G (p.His390Asp) c.4963C>G (p.His1655Asp) c.4945C>G (p.His1649Asp) c.1300C>G (p.His434Asp) c.4966C>G (p.His1656Asp) c.5074C>G (p.His1692Asp) n.11432C>G n.11423C>G | |
10 | g.53806662G>T | CA376515878 | PCDH15 | c.3999C>A c.5140C>A (p.His1714Asn) c.4951C>A (p.His1651Asn) c.4948C>A (p.His1650Asn) c.1168C>A (p.His390Asn) c.4963C>A (p.His1655Asn) c.4945C>A (p.His1649Asn) c.1300C>A (p.His434Asn) c.4966C>A (p.His1656Asn) c.5074C>A (p.His1692Asn) n.11432C>A n.11423C>A | |
10 | g.53806663A= | CA1910755889 | PCDH15 | c.3998T= c.5139T= (p.Phe1713=) c.4950T= (p.Phe1650=) c.4947T= (p.Phe1649=) c.1167T= (p.Phe389=) c.4962T= (p.Phe1654=) c.4944T= (p.Phe1648=) c.1299T= (p.Phe433=) c.4965T= (p.Phe1655=) c.5073T= (p.Phe1691=) n.11431T= n.11422T= | |
10 | g.53806663A>C | CA376515880 | PCDH15 | c.3998T>G c.5139T>G (p.Phe1713Leu) c.4950T>G (p.Phe1650Leu) c.4947T>G (p.Phe1649Leu) c.1167T>G (p.Phe389Leu) c.4962T>G (p.Phe1654Leu) c.4944T>G (p.Phe1648Leu) c.1299T>G (p.Phe433Leu) c.4965T>G (p.Phe1655Leu) c.5073T>G (p.Phe1691Leu) n.11431T>G n.11422T>G | dbSNP gnomAD v2 |
10 | g.53806663A>G | CA469545838 | PCDH15 | c.3998T>C c.5139T>C (p.Phe1713=) c.4950T>C (p.Phe1650=) c.4947T>C (p.Phe1649=) c.1167T>C (p.Phe389=) c.4962T>C (p.Phe1654=) c.4944T>C (p.Phe1648=) c.1299T>C (p.Phe433=) c.4965T>C (p.Phe1655=) c.5073T>C (p.Phe1691=) n.11431T>C n.11422T>C | |
10 | g.53806663A>T | CA376515882 | PCDH15 | c.3998T>A c.5139T>A (p.Phe1713Leu) c.4950T>A (p.Phe1650Leu) c.4947T>A (p.Phe1649Leu) c.1167T>A (p.Phe389Leu) c.4962T>A (p.Phe1654Leu) c.4944T>A (p.Phe1648Leu) c.1299T>A (p.Phe433Leu) c.4965T>A (p.Phe1655Leu) c.5073T>A (p.Phe1691Leu) n.11431T>A n.11422T>A | |
10 | g.53806664A>C | CA376515884 | PCDH15 | c.3997T>G c.5138T>G (p.Phe1713Cys) c.4949T>G (p.Phe1650Cys) c.4946T>G (p.Phe1649Cys) c.1166T>G (p.Phe389Cys) c.4961T>G (p.Phe1654Cys) c.4943T>G (p.Phe1648Cys) c.1298T>G (p.Phe433Cys) c.4964T>G (p.Phe1655Cys) c.5072T>G (p.Phe1691Cys) n.11430T>G n.11421T>G | |
10 | g.53806664A>G | CA376515887 | PCDH15 | c.3997T>C c.5138T>C (p.Phe1713Ser) c.4949T>C (p.Phe1650Ser) c.4946T>C (p.Phe1649Ser) c.1166T>C (p.Phe389Ser) c.4961T>C (p.Phe1654Ser) c.4943T>C (p.Phe1648Ser) c.1298T>C (p.Phe433Ser) c.4964T>C (p.Phe1655Ser) c.5072T>C (p.Phe1691Ser) n.11430T>C n.11421T>C | |
10 | g.53806664A>T | CA376515885 | PCDH15 | c.3997T>A c.5138T>A (p.Phe1713Tyr) c.4949T>A (p.Phe1650Tyr) c.4946T>A (p.Phe1649Tyr) c.1166T>A (p.Phe389Tyr) c.4961T>A (p.Phe1654Tyr) c.4943T>A (p.Phe1648Tyr) c.1298T>A (p.Phe433Tyr) c.4964T>A (p.Phe1655Tyr) c.5072T>A (p.Phe1691Tyr) n.11430T>A n.11421T>A | |
10 | g.53806665A>C | CA376515889 | PCDH15 | c.3996T>G c.5137T>G (p.Phe1713Val) c.4948T>G (p.Phe1650Val) c.4945T>G (p.Phe1649Val) c.1165T>G (p.Phe389Val) c.4960T>G (p.Phe1654Val) c.4942T>G (p.Phe1648Val) c.1297T>G (p.Phe433Val) c.4963T>G (p.Phe1655Val) c.5071T>G (p.Phe1691Val) n.11429T>G n.11420T>G | |
10 | g.53806665A>G | CA376515891 | PCDH15 | c.3996T>C c.5137T>C (p.Phe1713Leu) c.4948T>C (p.Phe1650Leu) c.4945T>C (p.Phe1649Leu) c.1165T>C (p.Phe389Leu) c.4960T>C (p.Phe1654Leu) c.4942T>C (p.Phe1648Leu) c.1297T>C (p.Phe433Leu) c.4963T>C (p.Phe1655Leu) c.5071T>C (p.Phe1691Leu) n.11429T>C n.11420T>C | gnomAD v4 |
10 | g.53806665A>T | CA376515892 | PCDH15 | c.3996T>A c.5137T>A (p.Phe1713Ile) c.4948T>A (p.Phe1650Ile) c.4945T>A (p.Phe1649Ile) c.1165T>A (p.Phe389Ile) c.4960T>A (p.Phe1654Ile) c.4942T>A (p.Phe1648Ile) c.1297T>A (p.Phe433Ile) c.4963T>A (p.Phe1655Ile) c.5071T>A (p.Phe1691Ile) n.11429T>A n.11420T>A | |
10 | g.53806666T>A | CA376515894 | PCDH15 | c.3995A>T c.5136A>T (p.Glu1712Asp) c.4947A>T (p.Glu1649Asp) c.4944A>T (p.Glu1648Asp) c.1164A>T (p.Glu388Asp) c.4959A>T (p.Glu1653Asp) c.4941A>T (p.Glu1647Asp) c.1296A>T (p.Glu432Asp) c.4962A>T (p.Glu1654Asp) c.5070A>T (p.Glu1690Asp) n.11428A>T n.11419A>T | |
10 | g.53806666T>C | CA469545839 | PCDH15 | c.3995A>G c.5136A>G (p.Glu1712=) c.4947A>G (p.Glu1649=) c.4944A>G (p.Glu1648=) c.1164A>G (p.Glu388=) c.4959A>G (p.Glu1653=) c.4941A>G (p.Glu1647=) c.1296A>G (p.Glu432=) c.4962A>G (p.Glu1654=) c.5070A>G (p.Glu1690=) n.11428A>G n.11419A>G | |
10 | g.53806666T>G | CA376515896 | PCDH15 | c.3995A>C c.5136A>C (p.Glu1712Asp) c.4947A>C (p.Glu1649Asp) c.4944A>C (p.Glu1648Asp) c.1164A>C (p.Glu388Asp) c.4959A>C (p.Glu1653Asp) c.4941A>C (p.Glu1647Asp) c.1296A>C (p.Glu432Asp) c.4962A>C (p.Glu1654Asp) c.5070A>C (p.Glu1690Asp) n.11428A>C n.11419A>C | |
10 | g.53806667T>A | CA376515898 | PCDH15 | c.3994A>T c.5135A>T (p.Glu1712Val) c.4946A>T (p.Glu1649Val) c.4943A>T (p.Glu1648Val) c.1163A>T (p.Glu388Val) c.4958A>T (p.Glu1653Val) c.4940A>T (p.Glu1647Val) c.1295A>T (p.Glu432Val) c.4961A>T (p.Glu1654Val) c.5069A>T (p.Glu1690Val) n.11427A>T n.11418A>T | |
10 | g.53806667T>C | CA376515899 | PCDH15 | c.3994A>G c.5135A>G (p.Glu1712Gly) c.4946A>G (p.Glu1649Gly) c.4943A>G (p.Glu1648Gly) c.1163A>G (p.Glu388Gly) c.4958A>G (p.Glu1653Gly) c.4940A>G (p.Glu1647Gly) c.1295A>G (p.Glu432Gly) c.4961A>G (p.Glu1654Gly) c.5069A>G (p.Glu1690Gly) n.11427A>G n.11418A>G | |
10 | g.53806667T>G | CA376515901 | PCDH15 | c.3994A>C c.5135A>C (p.Glu1712Ala) c.4946A>C (p.Glu1649Ala) c.4943A>C (p.Glu1648Ala) c.1163A>C (p.Glu388Ala) c.4958A>C (p.Glu1653Ala) c.4940A>C (p.Glu1647Ala) c.1295A>C (p.Glu432Ala) c.4961A>C (p.Glu1654Ala) c.5069A>C (p.Glu1690Ala) n.11427A>C n.11418A>C | |
10 | g.53806668C>A | CA376515903 | PCDH15 | c.3993G>T c.5134G>T (p.Glu1712Ter) c.4945G>T (p.Glu1649Ter) c.4942G>T (p.Glu1648Ter) c.1162G>T (p.Glu388Ter) c.4957G>T (p.Glu1653Ter) c.4939G>T (p.Glu1647Ter) c.1294G>T (p.Glu432Ter) c.4960G>T (p.Glu1654Ter) c.5068G>T (p.Glu1690Ter) n.11426G>T n.11417G>T | |
10 | g.53806668C= | CA1910755893 | PCDH15 | c.3993G= c.5134G= (p.Glu1712=) c.4945G= (p.Glu1649=) c.4942G= (p.Glu1648=) c.1162G= (p.Glu388=) c.4957G= (p.Glu1653=) c.4939G= (p.Glu1647=) c.1294G= (p.Glu432=) c.4960G= (p.Glu1654=) c.5068G= (p.Glu1690=) n.11426G= n.11417G= | |
10 | g.53806668C>G | CA376515904 | PCDH15 | c.3993G>C c.5134G>C (p.Glu1712Gln) c.4945G>C (p.Glu1649Gln) c.4942G>C (p.Glu1648Gln) c.1162G>C (p.Glu388Gln) c.4957G>C (p.Glu1653Gln) c.4939G>C (p.Glu1647Gln) c.1294G>C (p.Glu432Gln) c.4960G>C (p.Glu1654Gln) c.5068G>C (p.Glu1690Gln) n.11426G>C n.11417G>C | |
10 | g.53806668C>T | CA207195717 | PCDH15 | c.3993G>A c.5134G>A (p.Glu1712Lys) c.4945G>A (p.Glu1649Lys) c.4942G>A (p.Glu1648Lys) c.1162G>A (p.Glu388Lys) c.4957G>A (p.Glu1653Lys) c.4939G>A (p.Glu1647Lys) c.1294G>A (p.Glu432Lys) c.4960G>A (p.Glu1654Lys) c.5068G>A (p.Glu1690Lys) n.11426G>A n.11417G>A | dbSNP |
10 | g.53806669C>A | CA376515906 | PCDH15 | c.3992G>T c.5133G>T (p.Leu1711Phe) c.4944G>T (p.Leu1648Phe) c.4941G>T (p.Leu1647Phe) c.1161G>T (p.Leu387Phe) c.4956G>T (p.Leu1652Phe) c.4938G>T (p.Leu1646Phe) c.1293G>T (p.Leu431Phe) c.4959G>T (p.Leu1653Phe) c.5067G>T (p.Leu1689Phe) n.11425G>T n.11416G>T | |
10 | g.53806669C>G | CA376515907 | PCDH15 | c.3992G>C c.5133G>C (p.Leu1711Phe) c.4944G>C (p.Leu1648Phe) c.4941G>C (p.Leu1647Phe) c.1161G>C (p.Leu387Phe) c.4956G>C (p.Leu1652Phe) c.4938G>C (p.Leu1646Phe) c.1293G>C (p.Leu431Phe) c.4959G>C (p.Leu1653Phe) c.5067G>C (p.Leu1689Phe) n.11425G>C n.11416G>C | |
10 | g.53806669C>T | CA469545840 | PCDH15 | c.3992G>A c.5133G>A (p.Leu1711=) c.4944G>A (p.Leu1648=) c.4941G>A (p.Leu1647=) c.1161G>A (p.Leu387=) c.4956G>A (p.Leu1652=) c.4938G>A (p.Leu1646=) c.1293G>A (p.Leu431=) c.4959G>A (p.Leu1653=) c.5067G>A (p.Leu1689=) n.11425G>A n.11416G>A | gnomAD v4 |
10 | g.53806670A>C | CA376515910 | PCDH15 | c.3991T>G c.5132T>G (p.Leu1711Trp) c.4943T>G (p.Leu1648Trp) c.4940T>G (p.Leu1647Trp) c.1160T>G (p.Leu387Trp) c.4955T>G (p.Leu1652Trp) c.4937T>G (p.Leu1646Trp) c.1292T>G (p.Leu431Trp) c.4958T>G (p.Leu1653Trp) c.5066T>G (p.Leu1689Trp) n.11424T>G n.11415T>G | |
10 | g.53806670A>G | CA376515913 | PCDH15 | c.3991T>C c.5132T>C (p.Leu1711Ser) c.4943T>C (p.Leu1648Ser) c.4940T>C (p.Leu1647Ser) c.1160T>C (p.Leu387Ser) c.4955T>C (p.Leu1652Ser) c.4937T>C (p.Leu1646Ser) c.1292T>C (p.Leu431Ser) c.4958T>C (p.Leu1653Ser) c.5066T>C (p.Leu1689Ser) n.11424T>C n.11415T>C | |
10 | g.53806670A>T | CA376515911 | PCDH15 | c.3991T>A c.5132T>A (p.Leu1711Ter) c.4943T>A (p.Leu1648Ter) c.4940T>A (p.Leu1647Ter) c.1160T>A (p.Leu387Ter) c.4955T>A (p.Leu1652Ter) c.4937T>A (p.Leu1646Ter) c.1292T>A (p.Leu431Ter) c.4958T>A (p.Leu1653Ter) c.5066T>A (p.Leu1689Ter) n.11424T>A n.11415T>A | |
10 | g.53806672del | CA2609218338 | PCDH15 | c.3991del c.5132del (p.Leu1711TrpfsTer27) c.4943del (p.Leu1648TrpfsTer27) c.4940del (p.Leu1647TrpfsTer27) c.1160del (p.Leu387TrpfsTer27) c.4955del (p.Leu1652TrpfsTer27) c.4937del (p.Leu1646TrpfsTer27) c.1292del (p.Leu431TrpfsTer27) c.4958del (p.Leu1653TrpfsTer27) c.5066del (p.Leu1689TrpfsTer27) n.11424del n.11415del | gnomAD v4 |
10 | g.53806671A>C | CA376515915 | PCDH15 | c.3990T>G c.5131T>G (p.Leu1711Val) c.4942T>G (p.Leu1648Val) c.4939T>G (p.Leu1647Val) c.1159T>G (p.Leu387Val) c.4954T>G (p.Leu1652Val) c.4936T>G (p.Leu1646Val) c.1291T>G (p.Leu431Val) c.4957T>G (p.Leu1653Val) c.5065T>G (p.Leu1689Val) n.11423T>G n.11414T>G | |
10 | g.53806671A>G | CA469545841 | PCDH15 | c.3990T>C c.5131T>C (p.Leu1711=) c.4942T>C (p.Leu1648=) c.4939T>C (p.Leu1647=) c.1159T>C (p.Leu387=) c.4954T>C (p.Leu1652=) c.4936T>C (p.Leu1646=) c.1291T>C (p.Leu431=) c.4957T>C (p.Leu1653=) c.5065T>C (p.Leu1689=) n.11423T>C n.11414T>C | |
10 | g.53806671A>T | CA376515917 | PCDH15 | c.3990T>A c.5131T>A (p.Leu1711Met) c.4942T>A (p.Leu1648Met) c.4939T>A (p.Leu1647Met) c.1159T>A (p.Leu387Met) c.4954T>A (p.Leu1652Met) c.4936T>A (p.Leu1646Met) c.1291T>A (p.Leu431Met) c.4957T>A (p.Leu1653Met) c.5065T>A (p.Leu1689Met) n.11423T>A n.11414T>A | |
10 | g.53806672A>C | CA469545842 | PCDH15 | c.3989T>G c.5130T>G (p.Ala1710=) c.4941T>G (p.Ala1647=) c.4938T>G (p.Ala1646=) c.1158T>G (p.Ala386=) c.4953T>G (p.Ala1651=) c.4935T>G (p.Ala1645=) c.1290T>G (p.Ala430=) c.4956T>G (p.Ala1652=) c.5064T>G (p.Ala1688=) n.11422T>G n.11413T>G | gnomAD v4 |
10 | g.53806672A>G | CA469545843 | PCDH15 | c.3989T>C c.5130T>C (p.Ala1710=) c.4941T>C (p.Ala1647=) c.4938T>C (p.Ala1646=) c.1158T>C (p.Ala386=) c.4953T>C (p.Ala1651=) c.4935T>C (p.Ala1645=) c.1290T>C (p.Ala430=) c.4956T>C (p.Ala1652=) c.5064T>C (p.Ala1688=) n.11422T>C n.11413T>C | |
10 | g.53806672A>T | CA469545844 | PCDH15 | c.3989T>A c.5130T>A (p.Ala1710=) c.4941T>A (p.Ala1647=) c.4938T>A (p.Ala1646=) c.1158T>A (p.Ala386=) c.4953T>A (p.Ala1651=) c.4935T>A (p.Ala1645=) c.1290T>A (p.Ala430=) c.4956T>A (p.Ala1652=) c.5064T>A (p.Ala1688=) n.11422T>A n.11413T>A | |
10 | g.53806673G>A | CA376515918 | PCDH15 | c.3988C>T c.5129C>T (p.Ala1710Val) c.4940C>T (p.Ala1647Val) c.4937C>T (p.Ala1646Val) c.1157C>T (p.Ala386Val) c.4952C>T (p.Ala1651Val) c.4934C>T (p.Ala1645Val) c.1289C>T (p.Ala430Val) c.4955C>T (p.Ala1652Val) c.5063C>T (p.Ala1688Val) n.11421C>T n.11412C>T | |
10 | g.53806673G>C | CA376515920 | PCDH15 | c.3988C>G c.5129C>G (p.Ala1710Gly) c.4940C>G (p.Ala1647Gly) c.4937C>G (p.Ala1646Gly) c.1157C>G (p.Ala386Gly) c.4952C>G (p.Ala1651Gly) c.4934C>G (p.Ala1645Gly) c.1289C>G (p.Ala430Gly) c.4955C>G (p.Ala1652Gly) c.5063C>G (p.Ala1688Gly) n.11421C>G n.11412C>G | |
10 | g.53806673G>T | CA376515921 | PCDH15 | c.3988C>A c.5129C>A (p.Ala1710Asp) c.4940C>A (p.Ala1647Asp) c.4937C>A (p.Ala1646Asp) c.1157C>A (p.Ala386Asp) c.4952C>A (p.Ala1651Asp) c.4934C>A (p.Ala1645Asp) c.1289C>A (p.Ala430Asp) c.4955C>A (p.Ala1652Asp) c.5063C>A (p.Ala1688Asp) n.11421C>A n.11412C>A | |
10 | g.53806674C>A | CA376515923 | PCDH15 | c.3987G>T c.5128G>T (p.Ala1710Ser) c.4939G>T (p.Ala1647Ser) c.4936G>T (p.Ala1646Ser) c.1156G>T (p.Ala386Ser) c.4951G>T (p.Ala1651Ser) c.4933G>T (p.Ala1645Ser) c.1288G>T (p.Ala430Ser) c.4954G>T (p.Ala1652Ser) c.5062G>T (p.Ala1688Ser) n.11420G>T n.11411G>T | |
10 | g.53806674C= | CA1910755900 | PCDH15 | c.3987G= c.5128G= (p.Ala1710=) c.4939G= (p.Ala1647=) c.4936G= (p.Ala1646=) c.1156G= (p.Ala386=) c.4951G= (p.Ala1651=) c.4933G= (p.Ala1645=) c.1288G= (p.Ala430=) c.4954G= (p.Ala1652=) c.5062G= (p.Ala1688=) n.11420G= n.11411G= | |
10 | g.53806674C>G | CA376515925 | PCDH15 | c.3987G>C c.5128G>C (p.Ala1710Pro) c.4939G>C (p.Ala1647Pro) c.4936G>C (p.Ala1646Pro) c.1156G>C (p.Ala386Pro) c.4951G>C (p.Ala1651Pro) c.4933G>C (p.Ala1645Pro) c.1288G>C (p.Ala430Pro) c.4954G>C (p.Ala1652Pro) c.5062G>C (p.Ala1688Pro) n.11420G>C n.11411G>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.53806674C>T | CA376515926 | PCDH15 | c.3987G>A c.5128G>A (p.Ala1710Thr) c.4939G>A (p.Ala1647Thr) c.4936G>A (p.Ala1646Thr) c.1156G>A (p.Ala386Thr) c.4951G>A (p.Ala1651Thr) c.4933G>A (p.Ala1645Thr) c.1288G>A (p.Ala430Thr) c.4954G>A (p.Ala1652Thr) c.5062G>A (p.Ala1688Thr) n.11420G>A n.11411G>A | COSMIC |
10 | g.53806675C>A | CA376515927 | PCDH15 | c.3986G>T c.5127G>T (p.Glu1709Asp) c.4938G>T (p.Glu1646Asp) c.4935G>T (p.Glu1645Asp) c.1155G>T (p.Glu385Asp) c.4950G>T (p.Glu1650Asp) c.4932G>T (p.Glu1644Asp) c.1287G>T (p.Glu429Asp) c.4953G>T (p.Glu1651Asp) c.5061G>T (p.Glu1687Asp) n.11419G>T n.11410G>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.53806675C= | CA1910755908 | PCDH15 | c.3986G= c.5127G= (p.Glu1709=) c.4938G= (p.Glu1646=) c.4935G= (p.Glu1645=) c.1155G= (p.Glu385=) c.4950G= (p.Glu1650=) c.4932G= (p.Glu1644=) c.1287G= (p.Glu429=) c.4953G= (p.Glu1651=) c.5061G= (p.Glu1687=) n.11419G= n.11410G= | |
10 | g.53806675C>G | CA376515928 | PCDH15 | c.3986G>C c.5127G>C (p.Glu1709Asp) c.4938G>C (p.Glu1646Asp) c.4935G>C (p.Glu1645Asp) c.1155G>C (p.Glu385Asp) c.4950G>C (p.Glu1650Asp) c.4932G>C (p.Glu1644Asp) c.1287G>C (p.Glu429Asp) c.4953G>C (p.Glu1651Asp) c.5061G>C (p.Glu1687Asp) n.11419G>C n.11410G>C | |
10 | g.53806675C>T | CA469545845 | PCDH15 | c.3986G>A c.5127G>A (p.Glu1709=) c.4938G>A (p.Glu1646=) c.4935G>A (p.Glu1645=) c.1155G>A (p.Glu385=) c.4950G>A (p.Glu1650=) c.4932G>A (p.Glu1644=) c.1287G>A (p.Glu429=) c.4953G>A (p.Glu1651=) c.5061G>A (p.Glu1687=) n.11419G>A n.11410G>A | gnomAD v4 |
10 | g.53806676T>A | CA376515932 | PCDH15 | c.3985A>T c.5126A>T (p.Glu1709Val) c.4937A>T (p.Glu1646Val) c.4934A>T (p.Glu1645Val) c.1154A>T (p.Glu385Val) c.4949A>T (p.Glu1650Val) c.4931A>T (p.Glu1644Val) c.1286A>T (p.Glu429Val) c.4952A>T (p.Glu1651Val) c.5060A>T (p.Glu1687Val) n.11418A>T n.11409A>T | |
10 | g.53806676T>C | CA376515931 | PCDH15 | c.3985A>G c.5126A>G (p.Glu1709Gly) c.4937A>G (p.Glu1646Gly) c.4934A>G (p.Glu1645Gly) c.1154A>G (p.Glu385Gly) c.4949A>G (p.Glu1650Gly) c.4931A>G (p.Glu1644Gly) c.1286A>G (p.Glu429Gly) c.4952A>G (p.Glu1651Gly) c.5060A>G (p.Glu1687Gly) n.11418A>G n.11409A>G | |
10 | g.53806676T>G | CA376515930 | PCDH15 | c.3985A>C c.5126A>C (p.Glu1709Ala) c.4937A>C (p.Glu1646Ala) c.4934A>C (p.Glu1645Ala) c.1154A>C (p.Glu385Ala) c.4949A>C (p.Glu1650Ala) c.4931A>C (p.Glu1644Ala) c.1286A>C (p.Glu429Ala) c.4952A>C (p.Glu1651Ala) c.5060A>C (p.Glu1687Ala) n.11418A>C n.11409A>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.53806676T= | CA1910755911 | PCDH15 | c.3985A= c.5126A= (p.Glu1709=) c.4937A= (p.Glu1646=) c.4934A= (p.Glu1645=) c.1154A= (p.Glu385=) c.4949A= (p.Glu1650=) c.4931A= (p.Glu1644=) c.1286A= (p.Glu429=) c.4952A= (p.Glu1651=) c.5060A= (p.Glu1687=) n.11418A= n.11409A= | |
10 | g.53806677C>A | CA376515933 | PCDH15 | c.3984G>T c.5125G>T (p.Glu1709Ter) c.4936G>T (p.Glu1646Ter) c.4933G>T (p.Glu1645Ter) c.1153G>T (p.Glu385Ter) c.4948G>T (p.Glu1650Ter) c.4930G>T (p.Glu1644Ter) c.1285G>T (p.Glu429Ter) c.4951G>T (p.Glu1651Ter) c.5059G>T (p.Glu1687Ter) n.11417G>T n.11408G>T | COSMIC |
10 | g.53806677C= | CA1910755917 | PCDH15 | c.3984G= c.5125G= (p.Glu1709=) c.4936G= (p.Glu1646=) c.4933G= (p.Glu1645=) c.1153G= (p.Glu385=) c.4948G= (p.Glu1650=) c.4930G= (p.Glu1644=) c.1285G= (p.Glu429=) c.4951G= (p.Glu1651=) c.5059G= (p.Glu1687=) n.11417G= n.11408G= | |
10 | g.53806677C>G | CA376515934 | PCDH15 | c.3984G>C c.5125G>C (p.Glu1709Gln) c.4936G>C (p.Glu1646Gln) c.4933G>C (p.Glu1645Gln) c.1153G>C (p.Glu385Gln) c.4948G>C (p.Glu1650Gln) c.4930G>C (p.Glu1644Gln) c.1285G>C (p.Glu429Gln) c.4951G>C (p.Glu1651Gln) c.5059G>C (p.Glu1687Gln) n.11417G>C n.11408G>C | |
10 | g.53806677C>T | CA376515936 | PCDH15 | c.3984G>A c.5125G>A (p.Glu1709Lys) c.4936G>A (p.Glu1646Lys) c.4933G>A (p.Glu1645Lys) c.1153G>A (p.Glu385Lys) c.4948G>A (p.Glu1650Lys) c.4930G>A (p.Glu1644Lys) c.1285G>A (p.Glu429Lys) c.4951G>A (p.Glu1651Lys) c.5059G>A (p.Glu1687Lys) n.11417G>A n.11408G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.53806678C>A | CA376515938 | PCDH15 | c.3983G>T c.5124G>T (p.Lys1708Asn) c.4935G>T (p.Lys1645Asn) c.4932G>T (p.Lys1644Asn) c.1152G>T (p.Lys384Asn) c.4947G>T (p.Lys1649Asn) c.4929G>T (p.Lys1643Asn) c.1284G>T (p.Lys428Asn) c.4950G>T (p.Lys1650Asn) c.5058G>T (p.Lys1686Asn) n.11416G>T n.11407G>T | |
10 | g.53806678C= | CA1910755923 | PCDH15 | c.3983G= c.5124G= (p.Lys1708=) c.4935G= (p.Lys1645=) c.4932G= (p.Lys1644=) c.1152G= (p.Lys384=) c.4947G= (p.Lys1649=) c.4929G= (p.Lys1643=) c.1284G= (p.Lys428=) c.4950G= (p.Lys1650=) c.5058G= (p.Lys1686=) n.11416G= n.11407G= | |
10 | g.53806678C>G | CA376515940 | PCDH15 | c.3983G>C c.5124G>C (p.Lys1708Asn) c.4935G>C (p.Lys1645Asn) c.4932G>C (p.Lys1644Asn) c.1152G>C (p.Lys384Asn) c.4947G>C (p.Lys1649Asn) c.4929G>C (p.Lys1643Asn) c.1284G>C (p.Lys428Asn) c.4950G>C (p.Lys1650Asn) c.5058G>C (p.Lys1686Asn) n.11416G>C n.11407G>C | |
10 | g.53806678C>T | CA5504504 | PCDH15 | c.3983G>A c.5124G>A (p.Lys1708=) c.4935G>A (p.Lys1645=) c.4932G>A (p.Lys1644=) c.1152G>A (p.Lys384=) c.4947G>A (p.Lys1649=) c.4929G>A (p.Lys1643=) c.1284G>A (p.Lys428=) c.4950G>A (p.Lys1650=) c.5058G>A (p.Lys1686=) n.11416G>A n.11407G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806679T>A | CA376515945 | PCDH15 | c.3982A>T c.5123A>T (p.Lys1708Met) c.4934A>T (p.Lys1645Met) c.4931A>T (p.Lys1644Met) c.1151A>T (p.Lys384Met) c.4946A>T (p.Lys1649Met) c.4928A>T (p.Lys1643Met) c.1283A>T (p.Lys428Met) c.4949A>T (p.Lys1650Met) c.5057A>T (p.Lys1686Met) n.11415A>T n.11406A>T | |
10 | g.53806679T>C | CA5504505 | PCDH15 | c.3982A>G c.5123A>G (p.Lys1708Arg) c.4934A>G (p.Lys1645Arg) c.4931A>G (p.Lys1644Arg) c.1151A>G (p.Lys384Arg) c.4946A>G (p.Lys1649Arg) c.4928A>G (p.Lys1643Arg) c.1283A>G (p.Lys428Arg) c.4949A>G (p.Lys1650Arg) c.5057A>G (p.Lys1686Arg) n.11415A>G n.11406A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806679T>G | CA376515943 | PCDH15 | c.3982A>C c.5123A>C (p.Lys1708Thr) c.4934A>C (p.Lys1645Thr) c.4931A>C (p.Lys1644Thr) c.1151A>C (p.Lys384Thr) c.4946A>C (p.Lys1649Thr) c.4928A>C (p.Lys1643Thr) c.1283A>C (p.Lys428Thr) c.4949A>C (p.Lys1650Thr) c.5057A>C (p.Lys1686Thr) n.11415A>C n.11406A>C | |
10 | g.53806679T= | CA1910755932 | PCDH15 | c.3982A= c.5123A= (p.Lys1708=) c.4934A= (p.Lys1645=) c.4931A= (p.Lys1644=) c.1151A= (p.Lys384=) c.4946A= (p.Lys1649=) c.4928A= (p.Lys1643=) c.1283A= (p.Lys428=) c.4949A= (p.Lys1650=) c.5057A= (p.Lys1686=) n.11415A= n.11406A= | |
10 | g.53806680T>A | CA376515947 | PCDH15 | c.3981A>T c.5122A>T (p.Lys1708Ter) c.4933A>T (p.Lys1645Ter) c.4930A>T (p.Lys1644Ter) c.1150A>T (p.Lys384Ter) c.4945A>T (p.Lys1649Ter) c.4927A>T (p.Lys1643Ter) c.1282A>T (p.Lys428Ter) c.4948A>T (p.Lys1650Ter) c.5056A>T (p.Lys1686Ter) n.11414A>T n.11405A>T | |
10 | g.53806680T>C | CA376515949 | PCDH15 | c.3981A>G c.5122A>G (p.Lys1708Glu) c.4933A>G (p.Lys1645Glu) c.4930A>G (p.Lys1644Glu) c.1150A>G (p.Lys384Glu) c.4945A>G (p.Lys1649Glu) c.4927A>G (p.Lys1643Glu) c.1282A>G (p.Lys428Glu) c.4948A>G (p.Lys1650Glu) c.5056A>G (p.Lys1686Glu) n.11414A>G n.11405A>G | |
10 | g.53806680T>G | CA376515951 | PCDH15 | c.3981A>C c.5122A>C (p.Lys1708Gln) c.4933A>C (p.Lys1645Gln) c.4930A>C (p.Lys1644Gln) c.1150A>C (p.Lys384Gln) c.4945A>C (p.Lys1649Gln) c.4927A>C (p.Lys1643Gln) c.1282A>C (p.Lys428Gln) c.4948A>C (p.Lys1650Gln) c.5056A>C (p.Lys1686Gln) n.11414A>C n.11405A>C | |
10 | g.53806680T= | CA1910755939 | PCDH15 | c.3981A= c.5122A= (p.Lys1708=) c.4933A= (p.Lys1645=) c.4930A= (p.Lys1644=) c.1150A= (p.Lys384=) c.4945A= (p.Lys1649=) c.4927A= (p.Lys1643=) c.1282A= (p.Lys428=) c.4948A= (p.Lys1650=) c.5056A= (p.Lys1686=) n.11414A= n.11405A= | |
10 | g.53806682_53806684dup | CA593782933 | PCDH15 | c.3979_3981dup c.5120_5122dup (p.Ile1707_Lys1708insIle) c.4931_4933dup (p.Ile1644_Lys1645insIle) c.4928_4930dup (p.Ile1643_Lys1644insIle) c.1148_1150dup (p.Ile383_Lys384insIle) c.4943_4945dup (p.Ile1648_Lys1649insIle) c.4925_4927dup (p.Ile1642_Lys1643insIle) c.1280_1282dup (p.Ile427_Lys428insIle) c.4946_4948dup (p.Ile1649_Lys1650insIle) c.5054_5056dup (p.Ile1685_Lys1686insIle) n.11412_11414dup n.11403_11405dup | dbSNP gnomAD v2 gnomAD v4 |
10 | g.53806681G>A | CA469545846 | PCDH15 | c.3980C>T c.5121C>T (p.Ile1707=) c.4932C>T (p.Ile1644=) c.4929C>T (p.Ile1643=) c.1149C>T (p.Ile383=) c.4944C>T (p.Ile1648=) c.4926C>T (p.Ile1642=) c.1281C>T (p.Ile427=) c.4947C>T (p.Ile1649=) c.5055C>T (p.Ile1685=) n.11413C>T n.11404C>T | |
10 | g.53806681G>C | CA376515952 | PCDH15 | c.3980C>G c.5121C>G (p.Ile1707Met) c.4932C>G (p.Ile1644Met) c.4929C>G (p.Ile1643Met) c.1149C>G (p.Ile383Met) c.4944C>G (p.Ile1648Met) c.4926C>G (p.Ile1642Met) c.1281C>G (p.Ile427Met) c.4947C>G (p.Ile1649Met) c.5055C>G (p.Ile1685Met) n.11413C>G n.11404C>G | |
10 | g.53806681G= | CA1910755942 | PCDH15 | c.3980C= c.5121C= (p.Ile1707=) c.4932C= (p.Ile1644=) c.4929C= (p.Ile1643=) c.1149C= (p.Ile383=) c.4944C= (p.Ile1648=) c.4926C= (p.Ile1642=) c.1281C= (p.Ile427=) c.4947C= (p.Ile1649=) c.5055C= (p.Ile1685=) n.11413C= n.11404C= | |
10 | g.53806681G>T | CA469545847 | PCDH15 | c.3980C>A c.5121C>A (p.Ile1707=) c.4932C>A (p.Ile1644=) c.4929C>A (p.Ile1643=) c.1149C>A (p.Ile383=) c.4944C>A (p.Ile1648=) c.4926C>A (p.Ile1642=) c.1281C>A (p.Ile427=) c.4947C>A (p.Ile1649=) c.5055C>A (p.Ile1685=) n.11413C>A n.11404C>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.53806681_53806684dup | CA5504506 | PCDH15 | c.3977_3980dup c.5118_5121dup (p.Lys1708HisfsTer9) c.4929_4932dup (p.Lys1645HisfsTer9) c.4926_4929dup (p.Lys1644HisfsTer9) c.1146_1149dup (p.Lys384HisfsTer9) c.4941_4944dup (p.Lys1649HisfsTer9) c.4923_4926dup (p.Lys1643HisfsTer9) c.1278_1281dup (p.Lys428HisfsTer9) c.4944_4947dup (p.Lys1650HisfsTer9) c.5052_5055dup (p.Lys1686HisfsTer9) n.11410_11413dup n.11401_11404dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806682A>C | CA376515954 | PCDH15 | c.3979T>G c.5120T>G (p.Ile1707Ser) c.4931T>G (p.Ile1644Ser) c.4928T>G (p.Ile1643Ser) c.1148T>G (p.Ile383Ser) c.4943T>G (p.Ile1648Ser) c.4925T>G (p.Ile1642Ser) c.1280T>G (p.Ile427Ser) c.4946T>G (p.Ile1649Ser) c.5054T>G (p.Ile1685Ser) n.11412T>G n.11403T>G | |
10 | g.53806682A>G | CA376515957 | PCDH15 | c.3979T>C c.5120T>C (p.Ile1707Thr) c.4931T>C (p.Ile1644Thr) c.4928T>C (p.Ile1643Thr) c.1148T>C (p.Ile383Thr) c.4943T>C (p.Ile1648Thr) c.4925T>C (p.Ile1642Thr) c.1280T>C (p.Ile427Thr) c.4946T>C (p.Ile1649Thr) c.5054T>C (p.Ile1685Thr) n.11412T>C n.11403T>C | |
10 | g.53806682A>T | CA376515956 | PCDH15 | c.3979T>A c.5120T>A (p.Ile1707Asn) c.4931T>A (p.Ile1644Asn) c.4928T>A (p.Ile1643Asn) c.1148T>A (p.Ile383Asn) c.4943T>A (p.Ile1648Asn) c.4925T>A (p.Ile1642Asn) c.1280T>A (p.Ile427Asn) c.4946T>A (p.Ile1649Asn) c.5054T>A (p.Ile1685Asn) n.11412T>A n.11403T>A | |
10 | g.53806682_53806683delinsAT | CA1910755944 | PCDH15 | c.3978_3979delinsAT c.5119_5120delinsAT (p.Ile1707=) c.4930_4931delinsAT (p.Ile1644=) c.4927_4928delinsAT (p.Ile1643=) c.1147_1148delinsAT (p.Ile383=) c.4942_4943delinsAT (p.Ile1648=) c.4924_4925delinsAT (p.Ile1642=) c.1279_1280delinsAT (p.Ile427=) c.4945_4946delinsAT (p.Ile1649=) c.5053_5054delinsAT (p.Ile1685=) n.11411_11412delinsAT n.11402_11403delinsAT | |
10 | g.53806683del | CA1910755946 | PCDH15 | c.3978del c.5119del (p.Ile1707SerfsTer?) c.4930del (p.Ile1644SerfsTer?) c.4927del (p.Ile1643SerfsTer?) c.1147del (p.Ile383SerfsTer?) c.4942del (p.Ile1648SerfsTer?) c.4924del (p.Ile1642SerfsTer?) c.1279del (p.Ile427SerfsTer?) c.4945del (p.Ile1649SerfsTer?) c.5053del (p.Ile1685SerfsTer?) n.11411del n.11402del | dbSNP |
10 | g.53806683T>A | CA376515959 | PCDH15 | c.3978A>T c.5119A>T (p.Ile1707Phe) c.4930A>T (p.Ile1644Phe) c.4927A>T (p.Ile1643Phe) c.1147A>T (p.Ile383Phe) c.4942A>T (p.Ile1648Phe) c.4924A>T (p.Ile1642Phe) c.1279A>T (p.Ile427Phe) c.4945A>T (p.Ile1649Phe) c.5053A>T (p.Ile1685Phe) n.11411A>T n.11402A>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.53806683T>C | CA376515961 | PCDH15 | c.3978A>G c.5119A>G (p.Ile1707Val) c.4930A>G (p.Ile1644Val) c.4927A>G (p.Ile1643Val) c.1147A>G (p.Ile383Val) c.4942A>G (p.Ile1648Val) c.4924A>G (p.Ile1642Val) c.1279A>G (p.Ile427Val) c.4945A>G (p.Ile1649Val) c.5053A>G (p.Ile1685Val) n.11411A>G n.11402A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.53806683T>G | CA376515962 | PCDH15 | c.3978A>C c.5119A>C (p.Ile1707Leu) c.4930A>C (p.Ile1644Leu) c.4927A>C (p.Ile1643Leu) c.1147A>C (p.Ile383Leu) c.4942A>C (p.Ile1648Leu) c.4924A>C (p.Ile1642Leu) c.1279A>C (p.Ile427Leu) c.4945A>C (p.Ile1649Leu) c.5053A>C (p.Ile1685Leu) n.11411A>C n.11402A>C | gnomAD v4 |
10 | g.53806683T= | CA1910755948 | PCDH15 | c.3978A= c.5119A= (p.Ile1707=) c.4930A= (p.Ile1644=) c.4927A= (p.Ile1643=) c.1147A= (p.Ile383=) c.4942A= (p.Ile1648=) c.4924A= (p.Ile1642=) c.1279A= (p.Ile427=) c.4945A= (p.Ile1649=) c.5053A= (p.Ile1685=) n.11411A= n.11402A= | |
10 | g.53806684G>A | CA5504508 | PCDH15 | c.3977C>T c.5118C>T (p.Asn1706=) c.4929C>T (p.Asn1643=) c.4926C>T (p.Asn1642=) c.1146C>T (p.Asn382=) c.4941C>T (p.Asn1647=) c.4923C>T (p.Asn1641=) c.1278C>T (p.Asn426=) c.4944C>T (p.Asn1648=) c.5052C>T (p.Asn1684=) n.11410C>T n.11401C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806684G>C | CA376515965 | PCDH15 | c.3977C>G c.5118C>G (p.Asn1706Lys) c.4929C>G (p.Asn1643Lys) c.4926C>G (p.Asn1642Lys) c.1146C>G (p.Asn382Lys) c.4941C>G (p.Asn1647Lys) c.4923C>G (p.Asn1641Lys) c.1278C>G (p.Asn426Lys) c.4944C>G (p.Asn1648Lys) c.5052C>G (p.Asn1684Lys) n.11410C>G n.11401C>G | |
10 | g.53806684G= | CA1910755953 | PCDH15 | c.3977C= c.5118C= (p.Asn1706=) c.4929C= (p.Asn1643=) c.4926C= (p.Asn1642=) c.1146C= (p.Asn382=) c.4941C= (p.Asn1647=) c.4923C= (p.Asn1641=) c.1278C= (p.Asn426=) c.4944C= (p.Asn1648=) c.5052C= (p.Asn1684=) n.11410C= n.11401C= | |
10 | g.53806684G>T | CA376515967 | PCDH15 | c.3977C>A c.5118C>A (p.Asn1706Lys) c.4929C>A (p.Asn1643Lys) c.4926C>A (p.Asn1642Lys) c.1146C>A (p.Asn382Lys) c.4941C>A (p.Asn1647Lys) c.4923C>A (p.Asn1641Lys) c.1278C>A (p.Asn426Lys) c.4944C>A (p.Asn1648Lys) c.5052C>A (p.Asn1684Lys) n.11410C>A n.11401C>A | |
10 | g.53806685T>A | CA376515969 | PCDH15 | c.3976A>T c.5117A>T (p.Asn1706Ile) c.4928A>T (p.Asn1643Ile) c.4925A>T (p.Asn1642Ile) c.1145A>T (p.Asn382Ile) c.4940A>T (p.Asn1647Ile) c.4922A>T (p.Asn1641Ile) c.1277A>T (p.Asn426Ile) c.4943A>T (p.Asn1648Ile) c.5051A>T (p.Asn1684Ile) n.11409A>T n.11400A>T | dbSNP |
10 | g.53806685T>C | CA376515971 | PCDH15 | c.3976A>G c.5117A>G (p.Asn1706Ser) c.4928A>G (p.Asn1643Ser) c.4925A>G (p.Asn1642Ser) c.1145A>G (p.Asn382Ser) c.4940A>G (p.Asn1647Ser) c.4922A>G (p.Asn1641Ser) c.1277A>G (p.Asn426Ser) c.4943A>G (p.Asn1648Ser) c.5051A>G (p.Asn1684Ser) n.11409A>G n.11400A>G | COSMIC |
10 | g.53806685T>G | CA376515972 | PCDH15 | c.3976A>C c.5117A>C (p.Asn1706Thr) c.4928A>C (p.Asn1643Thr) c.4925A>C (p.Asn1642Thr) c.1145A>C (p.Asn382Thr) c.4940A>C (p.Asn1647Thr) c.4922A>C (p.Asn1641Thr) c.1277A>C (p.Asn426Thr) c.4943A>C (p.Asn1648Thr) c.5051A>C (p.Asn1684Thr) n.11409A>C n.11400A>C | gnomAD v4 |
10 | g.53806685T= | CA1910755957 | PCDH15 | c.3976A= c.5117A= (p.Asn1706=) c.4928A= (p.Asn1643=) c.4925A= (p.Asn1642=) c.1145A= (p.Asn382=) c.4940A= (p.Asn1647=) c.4922A= (p.Asn1641=) c.1277A= (p.Asn426=) c.4943A= (p.Asn1648=) c.5051A= (p.Asn1684=) n.11409A= n.11400A= | |
10 | g.53806686_53806689dup | CA5504507 | PCDH15 | c.3973_3976dup c.5114_5117dup (p.Asn1706LysfsTer11) c.4925_4928dup (p.Asn1643LysfsTer11) c.4922_4925dup (p.Asn1642LysfsTer11) c.1142_1145dup (p.Asn382LysfsTer11) c.4937_4940dup (p.Asn1647LysfsTer11) c.4919_4922dup (p.Asn1641LysfsTer11) c.1274_1277dup (p.Asn426LysfsTer11) c.4940_4943dup (p.Asn1648LysfsTer11) c.5048_5051dup (p.Asn1684LysfsTer11) n.11406_11409dup n.11397_11400dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806686T>A | CA376515977 | PCDH15 | c.3975A>T c.5116A>T (p.Asn1706Tyr) c.4927A>T (p.Asn1643Tyr) c.4924A>T (p.Asn1642Tyr) c.1144A>T (p.Asn382Tyr) c.4939A>T (p.Asn1647Tyr) c.4921A>T (p.Asn1641Tyr) c.1276A>T (p.Asn426Tyr) c.4942A>T (p.Asn1648Tyr) c.5050A>T (p.Asn1684Tyr) n.11408A>T n.11399A>T | |
10 | g.53806686T>C | CA376515976 | PCDH15 | c.3975A>G c.5116A>G (p.Asn1706Asp) c.4927A>G (p.Asn1643Asp) c.4924A>G (p.Asn1642Asp) c.1144A>G (p.Asn382Asp) c.4939A>G (p.Asn1647Asp) c.4921A>G (p.Asn1641Asp) c.1276A>G (p.Asn426Asp) c.4942A>G (p.Asn1648Asp) c.5050A>G (p.Asn1684Asp) n.11408A>G n.11399A>G | |
10 | g.53806686T>G | CA376515974 | PCDH15 | c.3975A>C c.5116A>C (p.Asn1706His) c.4927A>C (p.Asn1643His) c.4924A>C (p.Asn1642His) c.1144A>C (p.Asn382His) c.4939A>C (p.Asn1647His) c.4921A>C (p.Asn1641His) c.1276A>C (p.Asn426His) c.4942A>C (p.Asn1648His) c.5050A>C (p.Asn1684His) n.11408A>C n.11399A>C | |
10 | g.53806686_53806690delinsTCTTA | CA1910755959 | PCDH15 | c.3971_3975delinsTAAGA c.5112_5116delinsTAAGA (p.Ser1704=) c.4923_4927delinsTAAGA (p.Ser1641=) c.4920_4924delinsTAAGA (p.Ser1640=) c.1140_1144delinsTAAGA (p.Ser380=) c.4935_4939delinsTAAGA (p.Ser1645=) c.4917_4921delinsTAAGA (p.Ser1639=) c.1272_1276delinsTAAGA (p.Ser424=) c.4938_4942delinsTAAGA (p.Ser1646=) c.5046_5050delinsTAAGA (p.Ser1682=) n.11404_11408delinsTAAGA n.11395_11399delinsTAAGA | |
10 | g.53806687C>A | CA376515978 | PCDH15 | c.3974G>T c.5115G>T (p.Lys1705Asn) c.4926G>T (p.Lys1642Asn) c.4923G>T (p.Lys1641Asn) c.1143G>T (p.Lys381Asn) c.4938G>T (p.Lys1646Asn) c.4920G>T (p.Lys1640Asn) c.1275G>T (p.Lys425Asn) c.4941G>T (p.Lys1647Asn) c.5049G>T (p.Lys1683Asn) n.11407G>T n.11398G>T | dbSNP |
10 | g.53806687C= | CA1910755962 | PCDH15 | c.3974G= c.5115G= (p.Lys1705=) c.4926G= (p.Lys1642=) c.4923G= (p.Lys1641=) c.1143G= (p.Lys381=) c.4938G= (p.Lys1646=) c.4920G= (p.Lys1640=) c.1275G= (p.Lys425=) c.4941G= (p.Lys1647=) c.5049G= (p.Lys1683=) n.11407G= n.11398G= | |
10 | g.53806687C>G | CA376515979 | PCDH15 | c.3974G>C c.5115G>C (p.Lys1705Asn) c.4926G>C (p.Lys1642Asn) c.4923G>C (p.Lys1641Asn) c.1143G>C (p.Lys381Asn) c.4938G>C (p.Lys1646Asn) c.4920G>C (p.Lys1640Asn) c.1275G>C (p.Lys425Asn) c.4941G>C (p.Lys1647Asn) c.5049G>C (p.Lys1683Asn) n.11407G>C n.11398G>C | COSMIC |
10 | g.53806687C>T | CA469545848 | PCDH15 | c.3974G>A c.5115G>A (p.Lys1705=) c.4926G>A (p.Lys1642=) c.4923G>A (p.Lys1641=) c.1143G>A (p.Lys381=) c.4938G>A (p.Lys1646=) c.4920G>A (p.Lys1640=) c.1275G>A (p.Lys425=) c.4941G>A (p.Lys1647=) c.5049G>A (p.Lys1683=) n.11407G>A n.11398G>A | COSMIC |
10 | g.53806689_53806692del | CA666450925 | PCDH15 | c.3971_3974del c.5112_5115del (p.Ser1704ArgfsTer?) c.4923_4926del (p.Ser1641ArgfsTer?) c.4920_4923del (p.Ser1640ArgfsTer?) c.1140_1143del (p.Ser380ArgfsTer?) c.4935_4938del (p.Ser1645ArgfsTer?) c.4917_4920del (p.Ser1639ArgfsTer?) c.1272_1275del (p.Ser424ArgfsTer?) c.4938_4941del (p.Ser1646ArgfsTer?) c.5046_5049del (p.Ser1682ArgfsTer?) n.11404_11407del n.11395_11398del | dbSNP gnomAD v3 gnomAD v4 |
10 | g.53806688T>A | CA376515981 | PCDH15 | c.3973A>T c.5114A>T (p.Lys1705Met) c.4925A>T (p.Lys1642Met) c.4922A>T (p.Lys1641Met) c.1142A>T (p.Lys381Met) c.4937A>T (p.Lys1646Met) c.4919A>T (p.Lys1640Met) c.1274A>T (p.Lys425Met) c.4940A>T (p.Lys1647Met) c.5048A>T (p.Lys1683Met) n.11406A>T n.11397A>T | |
10 | g.53806688T>C | CA376515985 | PCDH15 | c.3973A>G c.5114A>G (p.Lys1705Arg) c.4925A>G (p.Lys1642Arg) c.4922A>G (p.Lys1641Arg) c.1142A>G (p.Lys381Arg) c.4937A>G (p.Lys1646Arg) c.4919A>G (p.Lys1640Arg) c.1274A>G (p.Lys425Arg) c.4940A>G (p.Lys1647Arg) c.5048A>G (p.Lys1683Arg) n.11406A>G n.11397A>G | |
10 | g.53806688T>G | CA376515983 | PCDH15 | c.3973A>C c.5114A>C (p.Lys1705Thr) c.4925A>C (p.Lys1642Thr) c.4922A>C (p.Lys1641Thr) c.1142A>C (p.Lys381Thr) c.4937A>C (p.Lys1646Thr) c.4919A>C (p.Lys1640Thr) c.1274A>C (p.Lys425Thr) c.4940A>C (p.Lys1647Thr) c.5048A>C (p.Lys1683Thr) n.11406A>C n.11397A>C | COSMIC |
10 | g.53806689T>A | CA376515986 | PCDH15 | c.3972A>T c.5113A>T (p.Lys1705Ter) c.4924A>T (p.Lys1642Ter) c.4921A>T (p.Lys1641Ter) c.1141A>T (p.Lys381Ter) c.4936A>T (p.Lys1646Ter) c.4918A>T (p.Lys1640Ter) c.1273A>T (p.Lys425Ter) c.4939A>T (p.Lys1647Ter) c.5047A>T (p.Lys1683Ter) n.11405A>T n.11396A>T | |
10 | g.53806689T>C | CA376515988 | PCDH15 | c.3972A>G c.5113A>G (p.Lys1705Glu) c.4924A>G (p.Lys1642Glu) c.4921A>G (p.Lys1641Glu) c.1141A>G (p.Lys381Glu) c.4936A>G (p.Lys1646Glu) c.4918A>G (p.Lys1640Glu) c.1273A>G (p.Lys425Glu) c.4939A>G (p.Lys1647Glu) c.5047A>G (p.Lys1683Glu) n.11405A>G n.11396A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.53806689T>G | CA376515989 | PCDH15 | c.3972A>C c.5113A>C (p.Lys1705Gln) c.4924A>C (p.Lys1642Gln) c.4921A>C (p.Lys1641Gln) c.1141A>C (p.Lys381Gln) c.4936A>C (p.Lys1646Gln) c.4918A>C (p.Lys1640Gln) c.1273A>C (p.Lys425Gln) c.4939A>C (p.Lys1647Gln) c.5047A>C (p.Lys1683Gln) n.11405A>C n.11396A>C | |
10 | g.53806689T= | CA1910755967 | PCDH15 | c.3972A= c.5113A= (p.Lys1705=) c.4924A= (p.Lys1642=) c.4921A= (p.Lys1641=) c.1141A= (p.Lys381=) c.4936A= (p.Lys1646=) c.4918A= (p.Lys1640=) c.1273A= (p.Lys425=) c.4939A= (p.Lys1647=) c.5047A= (p.Lys1683=) n.11405A= n.11396A= | |
10 | g.53806690A= | CA1910755969 | PCDH15 | c.3971T= c.5112T= (p.Ser1704=) c.4923T= (p.Ser1641=) c.4920T= (p.Ser1640=) c.1140T= (p.Ser380=) c.4935T= (p.Ser1645=) c.4917T= (p.Ser1639=) c.1272T= (p.Ser424=) c.4938T= (p.Ser1646=) c.5046T= (p.Ser1682=) n.11404T= n.11395T= | |
10 | g.53806690A>C | CA376515991 | PCDH15 | c.3971T>G c.5112T>G (p.Ser1704Arg) c.4923T>G (p.Ser1641Arg) c.4920T>G (p.Ser1640Arg) c.1140T>G (p.Ser380Arg) c.4935T>G (p.Ser1645Arg) c.4917T>G (p.Ser1639Arg) c.1272T>G (p.Ser424Arg) c.4938T>G (p.Ser1646Arg) c.5046T>G (p.Ser1682Arg) n.11404T>G n.11395T>G | |
10 | g.53806690A>G | CA469545849 | PCDH15 | c.3971T>C c.5112T>C (p.Ser1704=) c.4923T>C (p.Ser1641=) c.4920T>C (p.Ser1640=) c.1140T>C (p.Ser380=) c.4935T>C (p.Ser1645=) c.4917T>C (p.Ser1639=) c.1272T>C (p.Ser424=) c.4938T>C (p.Ser1646=) c.5046T>C (p.Ser1682=) n.11404T>C n.11395T>C | |
10 | g.53806690A>T | CA376515993 | PCDH15 | c.3971T>A c.5112T>A (p.Ser1704Arg) c.4923T>A (p.Ser1641Arg) c.4920T>A (p.Ser1640Arg) c.1140T>A (p.Ser380Arg) c.4935T>A (p.Ser1645Arg) c.4917T>A (p.Ser1639Arg) c.1272T>A (p.Ser424Arg) c.4938T>A (p.Ser1646Arg) c.5046T>A (p.Ser1682Arg) n.11404T>A n.11395T>A | |
10 | g.53806690dup | CA912970254 | PCDH15 | c.3971dup c.5112dup (p.Lys1705Ter) c.4923dup (p.Lys1642Ter) c.4920dup (p.Lys1641Ter) c.1140dup (p.Lys381Ter) c.4935dup (p.Lys1646Ter) c.4917dup (p.Lys1640Ter) c.1272dup (p.Lys425Ter) c.4938dup (p.Lys1647Ter) c.5046dup (p.Lys1683Ter) n.11404dup n.11395dup | |
10 | g.53806691C>A | CA5504509 | PCDH15 | c.3970G>T c.5111G>T (p.Ser1704Ile) c.4922G>T (p.Ser1641Ile) c.4919G>T (p.Ser1640Ile) c.1139G>T (p.Ser380Ile) c.4934G>T (p.Ser1645Ile) c.4916G>T (p.Ser1639Ile) c.1271G>T (p.Ser424Ile) c.4937G>T (p.Ser1646Ile) c.5045G>T (p.Ser1682Ile) n.11403G>T n.11394G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806691C= | CA1910755982 | PCDH15 | c.3970G= c.5111G= (p.Ser1704=) c.4922G= (p.Ser1641=) c.4919G= (p.Ser1640=) c.1139G= (p.Ser380=) c.4934G= (p.Ser1645=) c.4916G= (p.Ser1639=) c.1271G= (p.Ser424=) c.4937G= (p.Ser1646=) c.5045G= (p.Ser1682=) n.11403G= n.11394G= | |
10 | g.53806691C>G | CA376515995 | PCDH15 | c.3970G>C c.5111G>C (p.Ser1704Thr) c.4922G>C (p.Ser1641Thr) c.4919G>C (p.Ser1640Thr) c.1139G>C (p.Ser380Thr) c.4934G>C (p.Ser1645Thr) c.4916G>C (p.Ser1639Thr) c.1271G>C (p.Ser424Thr) c.4937G>C (p.Ser1646Thr) c.5045G>C (p.Ser1682Thr) n.11403G>C n.11394G>C | |
10 | g.53806691C>T | CA376515996 | PCDH15 | c.3970G>A c.5111G>A (p.Ser1704Asn) c.4922G>A (p.Ser1641Asn) c.4919G>A (p.Ser1640Asn) c.1139G>A (p.Ser380Asn) c.4934G>A (p.Ser1645Asn) c.4916G>A (p.Ser1639Asn) c.1271G>A (p.Ser424Asn) c.4937G>A (p.Ser1646Asn) c.5045G>A (p.Ser1682Asn) n.11403G>A n.11394G>A | |
10 | g.53806692_53806695dup | CA658822067 | PCDH15 | c.3967_3970dup c.5108_5111dup (p.Ser1704ArgfsTer3) c.4919_4922dup (p.Ser1641ArgfsTer3) c.4916_4919dup (p.Ser1640ArgfsTer3) c.1136_1139dup (p.Ser380ArgfsTer3) c.4931_4934dup (p.Ser1645ArgfsTer3) c.4913_4916dup (p.Ser1639ArgfsTer3) c.1268_1271dup (p.Ser424ArgfsTer3) c.4934_4937dup (p.Ser1646ArgfsTer3) c.5042_5045dup (p.Ser1682ArgfsTer3) n.11400_11403dup n.11391_11394dup | ClinVar dbSNP gnomAD v4 |
10 | g.53806692T>A | CA376515997 | PCDH15 | c.3969A>T c.5110A>T (p.Ser1704Cys) c.4921A>T (p.Ser1641Cys) c.4918A>T (p.Ser1640Cys) c.1138A>T (p.Ser380Cys) c.4933A>T (p.Ser1645Cys) c.4915A>T (p.Ser1639Cys) c.1270A>T (p.Ser424Cys) c.4936A>T (p.Ser1646Cys) c.5044A>T (p.Ser1682Cys) n.11402A>T n.11393A>T | |
10 | g.53806692T>C | CA376515998 | PCDH15 | c.3969A>G c.5110A>G (p.Ser1704Gly) c.4921A>G (p.Ser1641Gly) c.4918A>G (p.Ser1640Gly) c.1138A>G (p.Ser380Gly) c.4933A>G (p.Ser1645Gly) c.4915A>G (p.Ser1639Gly) c.1270A>G (p.Ser424Gly) c.4936A>G (p.Ser1646Gly) c.5044A>G (p.Ser1682Gly) n.11402A>G n.11393A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806692T>G | CA376515999 | PCDH15 | c.3969A>C c.5110A>C (p.Ser1704Arg) c.4921A>C (p.Ser1641Arg) c.4918A>C (p.Ser1640Arg) c.1138A>C (p.Ser380Arg) c.4933A>C (p.Ser1645Arg) c.4915A>C (p.Ser1639Arg) c.1270A>C (p.Ser424Arg) c.4936A>C (p.Ser1646Arg) c.5044A>C (p.Ser1682Arg) n.11402A>C n.11393A>C | |
10 | g.53806692T= | CA1910755988 | PCDH15 | c.3969A= c.5110A= (p.Ser1704=) c.4921A= (p.Ser1641=) c.4918A= (p.Ser1640=) c.1138A= (p.Ser380=) c.4933A= (p.Ser1645=) c.4915A= (p.Ser1639=) c.1270A= (p.Ser424=) c.4936A= (p.Ser1646=) c.5044A= (p.Ser1682=) n.11402A= n.11393A= | |
10 | g.53806693G>A | CA469545850 | PCDH15 | c.3968C>T c.5109C>T (p.Asp1703=) c.4920C>T (p.Asp1640=) c.4917C>T (p.Asp1639=) c.1137C>T (p.Asp379=) c.4932C>T (p.Asp1644=) c.4914C>T (p.Asp1638=) c.1269C>T (p.Asp423=) c.4935C>T (p.Asp1645=) c.5043C>T (p.Asp1681=) n.11401C>T n.11392C>T | |
10 | g.53806693G>C | CA376516002 | PCDH15 | c.3968C>G c.5109C>G (p.Asp1703Glu) c.4920C>G (p.Asp1640Glu) c.4917C>G (p.Asp1639Glu) c.1137C>G (p.Asp379Glu) c.4932C>G (p.Asp1644Glu) c.4914C>G (p.Asp1638Glu) c.1269C>G (p.Asp423Glu) c.4935C>G (p.Asp1645Glu) c.5043C>G (p.Asp1681Glu) n.11401C>G n.11392C>G | |
10 | g.53806693G= | CA1910755997 | PCDH15 | c.3968C= c.5109C= (p.Asp1703=) c.4920C= (p.Asp1640=) c.4917C= (p.Asp1639=) c.1137C= (p.Asp379=) c.4932C= (p.Asp1644=) c.4914C= (p.Asp1638=) c.1269C= (p.Asp423=) c.4935C= (p.Asp1645=) c.5043C= (p.Asp1681=) n.11401C= n.11392C= | |
10 | g.53806693G>T | CA376516000 | PCDH15 | c.3968C>A c.5109C>A (p.Asp1703Glu) c.4920C>A (p.Asp1640Glu) c.4917C>A (p.Asp1639Glu) c.1137C>A (p.Asp379Glu) c.4932C>A (p.Asp1644Glu) c.4914C>A (p.Asp1638Glu) c.1269C>A (p.Asp423Glu) c.4935C>A (p.Asp1645Glu) c.5043C>A (p.Asp1681Glu) n.11401C>A n.11392C>A | gnomAD v4 |
10 | g.53806693_53806696dup | CA593782934 | PCDH15 | c.3965_3968dup c.5106_5109dup (p.Ser1704Ter) c.4917_4920dup (p.Ser1641Ter) c.4914_4917dup (p.Ser1640Ter) c.1134_1137dup (p.Ser380Ter) c.4929_4932dup (p.Ser1645Ter) c.4911_4914dup (p.Ser1639Ter) c.1266_1269dup (p.Ser424Ter) c.4932_4935dup (p.Ser1646Ter) c.5040_5043dup (p.Ser1682Ter) n.11398_11401dup n.11389_11392dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.53806694T>A | CA376516004 | PCDH15 | c.3967A>T c.5108A>T (p.Asp1703Val) c.4919A>T (p.Asp1640Val) c.4916A>T (p.Asp1639Val) c.1136A>T (p.Asp379Val) c.4931A>T (p.Asp1644Val) c.4913A>T (p.Asp1638Val) c.1268A>T (p.Asp423Val) c.4934A>T (p.Asp1645Val) c.5042A>T (p.Asp1681Val) n.11400A>T n.11391A>T | |
10 | g.53806694T>C | CA376516005 | PCDH15 | c.3967A>G c.5108A>G (p.Asp1703Gly) c.4919A>G (p.Asp1640Gly) c.4916A>G (p.Asp1639Gly) c.1136A>G (p.Asp379Gly) c.4931A>G (p.Asp1644Gly) c.4913A>G (p.Asp1638Gly) c.1268A>G (p.Asp423Gly) c.4934A>G (p.Asp1645Gly) c.5042A>G (p.Asp1681Gly) n.11400A>G n.11391A>G | |
10 | g.53806694T>G | CA376516006 | PCDH15 | c.3967A>C c.5108A>C (p.Asp1703Ala) c.4919A>C (p.Asp1640Ala) c.4916A>C (p.Asp1639Ala) c.1136A>C (p.Asp379Ala) c.4931A>C (p.Asp1644Ala) c.4913A>C (p.Asp1638Ala) c.1268A>C (p.Asp423Ala) c.4934A>C (p.Asp1645Ala) c.5042A>C (p.Asp1681Ala) n.11400A>C n.11391A>C | |
10 | g.53806697_53806700dup | CA5504510 | PCDH15 | c.3964_3967dup c.5105_5108dup (p.Ser1704Ter) c.4916_4919dup (p.Ser1641Ter) c.4913_4916dup (p.Ser1640Ter) c.1133_1136dup (p.Ser380Ter) c.4928_4931dup (p.Ser1645Ter) c.4910_4913dup (p.Ser1639Ter) c.1265_1268dup (p.Ser424Ter) c.4931_4934dup (p.Ser1646Ter) c.5039_5042dup (p.Ser1682Ter) n.11397_11400dup n.11388_11391dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806695C>A | CA376516008 | PCDH15 | c.3966G>T c.5107G>T (p.Asp1703Tyr) c.4918G>T (p.Asp1640Tyr) c.4915G>T (p.Asp1639Tyr) c.1135G>T (p.Asp379Tyr) c.4930G>T (p.Asp1644Tyr) c.4912G>T (p.Asp1638Tyr) c.1267G>T (p.Asp423Tyr) c.4933G>T (p.Asp1645Tyr) c.5041G>T (p.Asp1681Tyr) n.11399G>T n.11390G>T | |
10 | g.53806695C>G | CA376516010 | PCDH15 | c.3966G>C c.5107G>C (p.Asp1703His) c.4918G>C (p.Asp1640His) c.4915G>C (p.Asp1639His) c.1135G>C (p.Asp379His) c.4930G>C (p.Asp1644His) c.4912G>C (p.Asp1638His) c.1267G>C (p.Asp423His) c.4933G>C (p.Asp1645His) c.5041G>C (p.Asp1681His) n.11399G>C n.11390G>C | |
10 | g.53806695C>T | CA376516012 | PCDH15 | c.3966G>A c.5107G>A (p.Asp1703Asn) c.4918G>A (p.Asp1640Asn) c.4915G>A (p.Asp1639Asn) c.1135G>A (p.Asp379Asn) c.4930G>A (p.Asp1644Asn) c.4912G>A (p.Asp1638Asn) c.1267G>A (p.Asp423Asn) c.4933G>A (p.Asp1645Asn) c.5041G>A (p.Asp1681Asn) n.11399G>A n.11390G>A | COSMIC |
10 | g.53806696A>C | CA376516013 | PCDH15 | c.3965T>G c.5106T>G (p.Ile1702Met) c.4917T>G (p.Ile1639Met) c.4914T>G (p.Ile1638Met) c.1134T>G (p.Ile378Met) c.4929T>G (p.Ile1643Met) c.4911T>G (p.Ile1637Met) c.1266T>G (p.Ile422Met) c.4932T>G (p.Ile1644Met) c.5040T>G (p.Ile1680Met) n.11398T>G n.11389T>G | |
10 | g.53806696A>G | CA469545852 | PCDH15 | c.3965T>C c.5106T>C (p.Ile1702=) c.4917T>C (p.Ile1639=) c.4914T>C (p.Ile1638=) c.1134T>C (p.Ile378=) c.4929T>C (p.Ile1643=) c.4911T>C (p.Ile1637=) c.1266T>C (p.Ile422=) c.4932T>C (p.Ile1644=) c.5040T>C (p.Ile1680=) n.11398T>C n.11389T>C | |
10 | g.53806696A>T | CA469545851 | PCDH15 | c.3965T>A c.5106T>A (p.Ile1702=) c.4917T>A (p.Ile1639=) c.4914T>A (p.Ile1638=) c.1134T>A (p.Ile378=) c.4929T>A (p.Ile1643=) c.4911T>A (p.Ile1637=) c.1266T>A (p.Ile422=) c.4932T>A (p.Ile1644=) c.5040T>A (p.Ile1680=) n.11398T>A n.11389T>A | |
10 | g.53806697A= | CA1910756011 | PCDH15 | c.3964T= c.5105T= (p.Ile1702=) c.4916T= (p.Ile1639=) c.4913T= (p.Ile1638=) c.1133T= (p.Ile378=) c.4928T= (p.Ile1643=) c.4910T= (p.Ile1637=) c.1265T= (p.Ile422=) c.4931T= (p.Ile1644=) c.5039T= (p.Ile1680=) n.11397T= n.11388T= | |
10 | g.53806697A>C | CA5504511 | PCDH15 | c.3964T>G c.5105T>G (p.Ile1702Ser) c.4916T>G (p.Ile1639Ser) c.4913T>G (p.Ile1638Ser) c.1133T>G (p.Ile378Ser) c.4928T>G (p.Ile1643Ser) c.4910T>G (p.Ile1637Ser) c.1265T>G (p.Ile422Ser) c.4931T>G (p.Ile1644Ser) c.5039T>G (p.Ile1680Ser) n.11397T>G n.11388T>G | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.53806697A>G | CA5504512 | PCDH15 | c.3964T>C c.5105T>C (p.Ile1702Thr) c.4916T>C (p.Ile1639Thr) c.4913T>C (p.Ile1638Thr) c.1133T>C (p.Ile378Thr) c.4928T>C (p.Ile1643Thr) c.4910T>C (p.Ile1637Thr) c.1265T>C (p.Ile422Thr) c.4931T>C (p.Ile1644Thr) c.5039T>C (p.Ile1680Thr) n.11397T>C n.11388T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806697A>T | CA376516016 | PCDH15 | c.3964T>A c.5105T>A (p.Ile1702Asn) c.4916T>A (p.Ile1639Asn) c.4913T>A (p.Ile1638Asn) c.1133T>A (p.Ile378Asn) c.4928T>A (p.Ile1643Asn) c.4910T>A (p.Ile1637Asn) c.1265T>A (p.Ile422Asn) c.4931T>A (p.Ile1644Asn) c.5039T>A (p.Ile1680Asn) n.11397T>A n.11388T>A | |
10 | g.53806698T>A | CA376516018 | PCDH15 | c.3963A>T c.5104A>T (p.Ile1702Phe) c.4915A>T (p.Ile1639Phe) c.4912A>T (p.Ile1638Phe) c.1132A>T (p.Ile378Phe) c.4927A>T (p.Ile1643Phe) c.4909A>T (p.Ile1637Phe) c.1264A>T (p.Ile422Phe) c.4930A>T (p.Ile1644Phe) c.5038A>T (p.Ile1680Phe) n.11396A>T n.11387A>T | |
10 | g.53806698T>C | CA376516019 | PCDH15 | c.3963A>G c.5104A>G (p.Ile1702Val) c.4915A>G (p.Ile1639Val) c.4912A>G (p.Ile1638Val) c.1132A>G (p.Ile378Val) c.4927A>G (p.Ile1643Val) c.4909A>G (p.Ile1637Val) c.1264A>G (p.Ile422Val) c.4930A>G (p.Ile1644Val) c.5038A>G (p.Ile1680Val) n.11396A>G n.11387A>G | dbSNP |
10 | g.53806698T>G | CA376516017 | PCDH15 | c.3963A>C c.5104A>C (p.Ile1702Leu) c.4915A>C (p.Ile1639Leu) c.4912A>C (p.Ile1638Leu) c.1132A>C (p.Ile378Leu) c.4927A>C (p.Ile1643Leu) c.4909A>C (p.Ile1637Leu) c.1264A>C (p.Ile422Leu) c.4930A>C (p.Ile1644Leu) c.5038A>C (p.Ile1680Leu) n.11396A>C n.11387A>C | |
10 | g.53806698T= | CA1910756016 | PCDH15 | c.3963A= c.5104A= (p.Ile1702=) c.4915A= (p.Ile1639=) c.4912A= (p.Ile1638=) c.1132A= (p.Ile378=) c.4927A= (p.Ile1643=) c.4909A= (p.Ile1637=) c.1264A= (p.Ile422=) c.4930A= (p.Ile1644=) c.5038A= (p.Ile1680=) n.11396A= n.11387A= | |
10 | g.53806699C>A | CA376516020 | PCDH15 | c.3962G>T c.5103G>T (p.Met1701Ile) c.4914G>T (p.Met1638Ile) c.4911G>T (p.Met1637Ile) c.1131G>T (p.Met377Ile) c.4926G>T (p.Met1642Ile) c.4908G>T (p.Met1636Ile) c.1263G>T (p.Met421Ile) c.4929G>T (p.Met1643Ile) c.5037G>T (p.Met1679Ile) n.11395G>T n.11386G>T | |
10 | g.53806699C= | CA1910756019 | PCDH15 | c.3962G= c.5103G= (p.Met1701=) c.4914G= (p.Met1638=) c.4911G= (p.Met1637=) c.1131G= (p.Met377=) c.4926G= (p.Met1642=) c.4908G= (p.Met1636=) c.1263G= (p.Met421=) c.4929G= (p.Met1643=) c.5037G= (p.Met1679=) n.11395G= n.11386G= | |
10 | g.53806699C>G | CA376516021 | PCDH15 | c.3962G>C c.5103G>C (p.Met1701Ile) c.4914G>C (p.Met1638Ile) c.4911G>C (p.Met1637Ile) c.1131G>C (p.Met377Ile) c.4926G>C (p.Met1642Ile) c.4908G>C (p.Met1636Ile) c.1263G>C (p.Met421Ile) c.4929G>C (p.Met1643Ile) c.5037G>C (p.Met1679Ile) n.11395G>C n.11386G>C | |
10 | g.53806699C>T | CA207195798 | PCDH15 | c.3962G>A c.5103G>A (p.Met1701Ile) c.4914G>A (p.Met1638Ile) c.4911G>A (p.Met1637Ile) c.1131G>A (p.Met377Ile) c.4926G>A (p.Met1642Ile) c.4908G>A (p.Met1636Ile) c.1263G>A (p.Met421Ile) c.4929G>A (p.Met1643Ile) c.5037G>A (p.Met1679Ile) n.11395G>A n.11386G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.53806700A= | CA1910756024 | PCDH15 | c.3961T= c.5102T= (p.Met1701=) c.4913T= (p.Met1638=) c.4910T= (p.Met1637=) c.1130T= (p.Met377=) c.4925T= (p.Met1642=) c.4907T= (p.Met1636=) c.1262T= (p.Met421=) c.4928T= (p.Met1643=) c.5036T= (p.Met1679=) n.11394T= n.11385T= | |
10 | g.53806700A>C | CA376516023 | PCDH15 | c.3961T>G c.5102T>G (p.Met1701Arg) c.4913T>G (p.Met1638Arg) c.4910T>G (p.Met1637Arg) c.1130T>G (p.Met377Arg) c.4925T>G (p.Met1642Arg) c.4907T>G (p.Met1636Arg) c.1262T>G (p.Met421Arg) c.4928T>G (p.Met1643Arg) c.5036T>G (p.Met1679Arg) n.11394T>G n.11385T>G | |
10 | g.53806700A>G | CA376516025 | PCDH15 | c.3961T>C c.5102T>C (p.Met1701Thr) c.4913T>C (p.Met1638Thr) c.4910T>C (p.Met1637Thr) c.1130T>C (p.Met377Thr) c.4925T>C (p.Met1642Thr) c.4907T>C (p.Met1636Thr) c.1262T>C (p.Met421Thr) c.4928T>C (p.Met1643Thr) c.5036T>C (p.Met1679Thr) n.11394T>C n.11385T>C | dbSNP |
10 | g.53806700A>T | CA376516026 | PCDH15 | c.3961T>A c.5102T>A (p.Met1701Lys) c.4913T>A (p.Met1638Lys) c.4910T>A (p.Met1637Lys) c.1130T>A (p.Met377Lys) c.4925T>A (p.Met1642Lys) c.4907T>A (p.Met1636Lys) c.1262T>A (p.Met421Lys) c.4928T>A (p.Met1643Lys) c.5036T>A (p.Met1679Lys) n.11394T>A n.11385T>A | |
10 | g.53806701T>A | CA376516028 | PCDH15 | c.3960A>T c.5101A>T (p.Met1701Leu) c.4912A>T (p.Met1638Leu) c.4909A>T (p.Met1637Leu) c.1129A>T (p.Met377Leu) c.4924A>T (p.Met1642Leu) c.4906A>T (p.Met1636Leu) c.1261A>T (p.Met421Leu) c.4927A>T (p.Met1643Leu) c.5035A>T (p.Met1679Leu) n.11393A>T n.11384A>T | |
10 | g.53806701T>C | CA5504513 | PCDH15 | c.3960A>G c.5101A>G (p.Met1701Val) c.4912A>G (p.Met1638Val) c.4909A>G (p.Met1637Val) c.1129A>G (p.Met377Val) c.4924A>G (p.Met1642Val) c.4906A>G (p.Met1636Val) c.1261A>G (p.Met421Val) c.4927A>G (p.Met1643Val) c.5035A>G (p.Met1679Val) n.11393A>G n.11384A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806701T>G | CA376516030 | PCDH15 | c.3960A>C c.5101A>C (p.Met1701Leu) c.4912A>C (p.Met1638Leu) c.4909A>C (p.Met1637Leu) c.1129A>C (p.Met377Leu) c.4924A>C (p.Met1642Leu) c.4906A>C (p.Met1636Leu) c.1261A>C (p.Met421Leu) c.4927A>C (p.Met1643Leu) c.5035A>C (p.Met1679Leu) n.11393A>C n.11384A>C | |
10 | g.53806701T= | CA1910756027 | PCDH15 | c.3960A= c.5101A= (p.Met1701=) c.4912A= (p.Met1638=) c.4909A= (p.Met1637=) c.1129A= (p.Met377=) c.4924A= (p.Met1642=) c.4906A= (p.Met1636=) c.1261A= (p.Met421=) c.4927A= (p.Met1643=) c.5035A= (p.Met1679=) n.11393A= n.11384A= | |
10 | g.53806702G>A | CA469545853 | PCDH15 | c.3959C>T c.5100C>T (p.Ser1700=) c.4911C>T (p.Ser1637=) c.4908C>T (p.Ser1636=) c.1128C>T (p.Ser376=) c.4923C>T (p.Ser1641=) c.4905C>T (p.Ser1635=) c.1260C>T (p.Ser420=) c.4926C>T (p.Ser1642=) c.5034C>T (p.Ser1678=) n.11392C>T n.11383C>T | gnomAD v4 |
10 | g.53806702G>C | CA469545855 | PCDH15 | c.3959C>G c.5100C>G (p.Ser1700=) c.4911C>G (p.Ser1637=) c.4908C>G (p.Ser1636=) c.1128C>G (p.Ser376=) c.4923C>G (p.Ser1641=) c.4905C>G (p.Ser1635=) c.1260C>G (p.Ser420=) c.4926C>G (p.Ser1642=) c.5034C>G (p.Ser1678=) n.11392C>G n.11383C>G | dbSNP |
10 | g.53806702G= | CA1910756028 | PCDH15 | c.3959C= c.5100C= (p.Ser1700=) c.4911C= (p.Ser1637=) c.4908C= (p.Ser1636=) c.1128C= (p.Ser376=) c.4923C= (p.Ser1641=) c.4905C= (p.Ser1635=) c.1260C= (p.Ser420=) c.4926C= (p.Ser1642=) c.5034C= (p.Ser1678=) n.11392C= n.11383C= | |
10 | g.53806702G>T | CA469545854 | PCDH15 | c.3959C>A c.5100C>A (p.Ser1700=) c.4911C>A (p.Ser1637=) c.4908C>A (p.Ser1636=) c.1128C>A (p.Ser376=) c.4923C>A (p.Ser1641=) c.4905C>A (p.Ser1635=) c.1260C>A (p.Ser420=) c.4926C>A (p.Ser1642=) c.5034C>A (p.Ser1678=) n.11392C>A n.11383C>A | |
10 | g.53806703G>A | CA376516032 | PCDH15 | c.3958C>T c.5099C>T (p.Ser1700Phe) c.4910C>T (p.Ser1637Phe) c.4907C>T (p.Ser1636Phe) c.1127C>T (p.Ser376Phe) c.4922C>T (p.Ser1641Phe) c.4904C>T (p.Ser1635Phe) c.1259C>T (p.Ser420Phe) c.4925C>T (p.Ser1642Phe) c.5033C>T (p.Ser1678Phe) n.11391C>T n.11382C>T | |
10 | g.53806703G>C | CA376516034 | PCDH15 | c.3958C>G c.5099C>G (p.Ser1700Cys) c.4910C>G (p.Ser1637Cys) c.4907C>G (p.Ser1636Cys) c.1127C>G (p.Ser376Cys) c.4922C>G (p.Ser1641Cys) c.4904C>G (p.Ser1635Cys) c.1259C>G (p.Ser420Cys) c.4925C>G (p.Ser1642Cys) c.5033C>G (p.Ser1678Cys) n.11391C>G n.11382C>G | |
10 | g.53806703G>T | CA376516035 | PCDH15 | c.3958C>A c.5099C>A (p.Ser1700Tyr) c.4910C>A (p.Ser1637Tyr) c.4907C>A (p.Ser1636Tyr) c.1127C>A (p.Ser376Tyr) c.4922C>A (p.Ser1641Tyr) c.4904C>A (p.Ser1635Tyr) c.1259C>A (p.Ser420Tyr) c.4925C>A (p.Ser1642Tyr) c.5033C>A (p.Ser1678Tyr) n.11391C>A n.11382C>A | |
10 | g.53806704A= | CA1910756031 | PCDH15 | c.3957T= c.5098T= (p.Ser1700=) c.4909T= (p.Ser1637=) c.4906T= (p.Ser1636=) c.1126T= (p.Ser376=) c.4921T= (p.Ser1641=) c.4903T= (p.Ser1635=) c.1258T= (p.Ser420=) c.4924T= (p.Ser1642=) c.5032T= (p.Ser1678=) n.11390T= n.11381T= | |
10 | g.53806704A>C | CA376516039 | PCDH15 | c.3957T>G c.5098T>G (p.Ser1700Ala) c.4909T>G (p.Ser1637Ala) c.4906T>G (p.Ser1636Ala) c.1126T>G (p.Ser376Ala) c.4921T>G (p.Ser1641Ala) c.4903T>G (p.Ser1635Ala) c.1258T>G (p.Ser420Ala) c.4924T>G (p.Ser1642Ala) c.5032T>G (p.Ser1678Ala) n.11390T>G n.11381T>G | |
10 | g.53806704A>G | CA376516040 | PCDH15 | c.3957T>C c.5098T>C (p.Ser1700Pro) c.4909T>C (p.Ser1637Pro) c.4906T>C (p.Ser1636Pro) c.1126T>C (p.Ser376Pro) c.4921T>C (p.Ser1641Pro) c.4903T>C (p.Ser1635Pro) c.1258T>C (p.Ser420Pro) c.4924T>C (p.Ser1642Pro) c.5032T>C (p.Ser1678Pro) n.11390T>C n.11381T>C | |
10 | g.53806704A>T | CA207195804 | PCDH15 | c.3957T>A c.5098T>A (p.Ser1700Thr) c.4909T>A (p.Ser1637Thr) c.4906T>A (p.Ser1636Thr) c.1126T>A (p.Ser376Thr) c.4921T>A (p.Ser1641Thr) c.4903T>A (p.Ser1635Thr) c.1258T>A (p.Ser420Thr) c.4924T>A (p.Ser1642Thr) c.5032T>A (p.Ser1678Thr) n.11390T>A n.11381T>A | dbSNP gnomAD v4 |
10 | g.53806705C>A | CA376516042 | PCDH15 | c.3956G>T c.5097G>T (p.Glu1699Asp) c.4908G>T (p.Glu1636Asp) c.4905G>T (p.Glu1635Asp) c.1125G>T (p.Glu375Asp) c.4920G>T (p.Glu1640Asp) c.4902G>T (p.Glu1634Asp) c.1257G>T (p.Glu419Asp) c.4923G>T (p.Glu1641Asp) c.5031G>T (p.Glu1677Asp) n.11389G>T n.11380G>T | gnomAD v4 |
10 | g.53806705C>G | CA376516044 | PCDH15 | c.3956G>C c.5097G>C (p.Glu1699Asp) c.4908G>C (p.Glu1636Asp) c.4905G>C (p.Glu1635Asp) c.1125G>C (p.Glu375Asp) c.4920G>C (p.Glu1640Asp) c.4902G>C (p.Glu1634Asp) c.1257G>C (p.Glu419Asp) c.4923G>C (p.Glu1641Asp) c.5031G>C (p.Glu1677Asp) n.11389G>C n.11380G>C | |
10 | g.53806705C>T | CA469545856 | PCDH15 | c.3956G>A c.5097G>A (p.Glu1699=) c.4908G>A (p.Glu1636=) c.4905G>A (p.Glu1635=) c.1125G>A (p.Glu375=) c.4920G>A (p.Glu1640=) c.4902G>A (p.Glu1634=) c.1257G>A (p.Glu419=) c.4923G>A (p.Glu1641=) c.5031G>A (p.Glu1677=) n.11389G>A n.11380G>A | |
10 | g.53806707_53806709del | CA2574549911 | PCDH15 | c.3954_3956del c.5095_5097del (p.Glu1699del) c.4906_4908del (p.Glu1636del) c.4903_4905del (p.Glu1635del) c.1123_1125del (p.Glu375del) c.4918_4920del (p.Glu1640del) c.4900_4902del (p.Glu1634del) c.1255_1257del (p.Glu419del) c.4921_4923del (p.Glu1641del) c.5029_5031del (p.Glu1677del) n.11387_11389del n.11378_11380del | |
10 | g.53806706T>A | CA376516046 | PCDH15 | c.3955A>T c.5096A>T (p.Glu1699Val) c.4907A>T (p.Glu1636Val) c.4904A>T (p.Glu1635Val) c.1124A>T (p.Glu375Val) c.4919A>T (p.Glu1640Val) c.4901A>T (p.Glu1634Val) c.1256A>T (p.Glu419Val) c.4922A>T (p.Glu1641Val) c.5030A>T (p.Glu1677Val) n.11388A>T n.11379A>T | |
10 | g.53806706T>C | CA376516047 | PCDH15 | c.3955A>G c.5096A>G (p.Glu1699Gly) c.4907A>G (p.Glu1636Gly) c.4904A>G (p.Glu1635Gly) c.1124A>G (p.Glu375Gly) c.4919A>G (p.Glu1640Gly) c.4901A>G (p.Glu1634Gly) c.1256A>G (p.Glu419Gly) c.4922A>G (p.Glu1641Gly) c.5030A>G (p.Glu1677Gly) n.11388A>G n.11379A>G | |
10 | g.53806706T>G | CA376516048 | PCDH15 | c.3955A>C c.5096A>C (p.Glu1699Ala) c.4907A>C (p.Glu1636Ala) c.4904A>C (p.Glu1635Ala) c.1124A>C (p.Glu375Ala) c.4919A>C (p.Glu1640Ala) c.4901A>C (p.Glu1634Ala) c.1256A>C (p.Glu419Ala) c.4922A>C (p.Glu1641Ala) c.5030A>C (p.Glu1677Ala) n.11388A>C n.11379A>C | |
10 | g.53806707C>A | CA376516053 | PCDH15 | c.3954G>T c.5095G>T (p.Glu1699Ter) c.4906G>T (p.Glu1636Ter) c.4903G>T (p.Glu1635Ter) c.1123G>T (p.Glu375Ter) c.4918G>T (p.Glu1640Ter) c.4900G>T (p.Glu1634Ter) c.1255G>T (p.Glu419Ter) c.4921G>T (p.Glu1641Ter) c.5029G>T (p.Glu1677Ter) n.11387G>T n.11378G>T | dbSNP |
10 | g.53806707C= | CA1910756034 | PCDH15 | c.3954G= c.5095G= (p.Glu1699=) c.4906G= (p.Glu1636=) c.4903G= (p.Glu1635=) c.1123G= (p.Glu375=) c.4918G= (p.Glu1640=) c.4900G= (p.Glu1634=) c.1255G= (p.Glu419=) c.4921G= (p.Glu1641=) c.5029G= (p.Glu1677=) n.11387G= n.11378G= | |
10 | g.53806707C>G | CA376516050 | PCDH15 | c.3954G>C c.5095G>C (p.Glu1699Gln) c.4906G>C (p.Glu1636Gln) c.4903G>C (p.Glu1635Gln) c.1123G>C (p.Glu375Gln) c.4918G>C (p.Glu1640Gln) c.4900G>C (p.Glu1634Gln) c.1255G>C (p.Glu419Gln) c.4921G>C (p.Glu1641Gln) c.5029G>C (p.Glu1677Gln) n.11387G>C n.11378G>C | |
10 | g.53806707C>T | CA376516052 | PCDH15 | c.3954G>A c.5095G>A (p.Glu1699Lys) c.4906G>A (p.Glu1636Lys) c.4903G>A (p.Glu1635Lys) c.1123G>A (p.Glu375Lys) c.4918G>A (p.Glu1640Lys) c.4900G>A (p.Glu1634Lys) c.1255G>A (p.Glu419Lys) c.4921G>A (p.Glu1641Lys) c.5029G>A (p.Glu1677Lys) n.11387G>A n.11378G>A | gnomAD v4 |
10 | g.53806708C>A | CA376516055 | PCDH15 | c.3953G>T c.5094G>T (p.Gln1698His) c.4905G>T (p.Gln1635His) c.4902G>T (p.Gln1634His) c.1122G>T (p.Gln374His) c.4917G>T (p.Gln1639His) c.4899G>T (p.Gln1633His) c.1254G>T (p.Gln418His) c.4920G>T (p.Gln1640His) c.5028G>T (p.Gln1676His) n.11386G>T n.11377G>T | gnomAD v4 |
10 | g.53806708C>G | CA376516056 | PCDH15 | c.3953G>C c.5094G>C (p.Gln1698His) c.4905G>C (p.Gln1635His) c.4902G>C (p.Gln1634His) c.1122G>C (p.Gln374His) c.4917G>C (p.Gln1639His) c.4899G>C (p.Gln1633His) c.1254G>C (p.Gln418His) c.4920G>C (p.Gln1640His) c.5028G>C (p.Gln1676His) n.11386G>C n.11377G>C | gnomAD v4 |
10 | g.53806708C>T | CA469545857 | PCDH15 | c.3953G>A c.5094G>A (p.Gln1698=) c.4905G>A (p.Gln1635=) c.4902G>A (p.Gln1634=) c.1122G>A (p.Gln374=) c.4917G>A (p.Gln1639=) c.4899G>A (p.Gln1633=) c.1254G>A (p.Gln418=) c.4920G>A (p.Gln1640=) c.5028G>A (p.Gln1676=) n.11386G>A n.11377G>A |