WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.53806597_53806603dup | CA2609218335 | PCDH15 | c.4061_4067dup c.5202_5208dup (p.Met1737TyrfsTer23) c.5013_5019dup (p.Met1674TyrfsTer23) c.5010_5016dup (p.Met1673TyrfsTer23) c.1230_1236dup (p.Met413TyrfsTer23) c.5025_5031dup (p.Met1678TyrfsTer23) c.5007_5013dup (p.Met1672TyrfsTer23) c.1362_1368dup (p.Met457TyrfsTer23) c.5028_5034dup (p.Met1679TyrfsTer23) c.5136_5142dup (p.Met1715TyrfsTer23) n.11494_11500dup n.11485_11491dup | gnomAD v4 |
| 10 | g.53806601T>A | CA376515710 | PCDH15 | c.4060A>T c.5201A>T (p.His1734Leu) c.5012A>T (p.His1671Leu) c.5009A>T (p.His1670Leu) c.1229A>T (p.His410Leu) c.5024A>T (p.His1675Leu) c.5006A>T (p.His1669Leu) c.1361A>T (p.His454Leu) c.5027A>T (p.His1676Leu) c.5135A>T (p.His1712Leu) n.11493A>T n.11484A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.53806601T>C | CA376515711 | PCDH15 | c.4060A>G c.5201A>G (p.His1734Arg) c.5012A>G (p.His1671Arg) c.5009A>G (p.His1670Arg) c.1229A>G (p.His410Arg) c.5024A>G (p.His1675Arg) c.5006A>G (p.His1669Arg) c.1361A>G (p.His454Arg) c.5027A>G (p.His1676Arg) c.5135A>G (p.His1712Arg) n.11493A>G n.11484A>G | COSMIC |
| 10 | g.53806601T>G | CA376515713 | PCDH15 | c.4060A>C c.5201A>C (p.His1734Pro) c.5012A>C (p.His1671Pro) c.5009A>C (p.His1670Pro) c.1229A>C (p.His410Pro) c.5024A>C (p.His1675Pro) c.5006A>C (p.His1669Pro) c.1361A>C (p.His454Pro) c.5027A>C (p.His1676Pro) c.5135A>C (p.His1712Pro) n.11493A>C n.11484A>C | |
| 10 | g.53806601T= | CA1910755735 | PCDH15 | c.4060A= c.5201A= (p.His1734=) c.5012A= (p.His1671=) c.5009A= (p.His1670=) c.1229A= (p.His410=) c.5024A= (p.His1675=) c.5006A= (p.His1669=) c.1361A= (p.His454=) c.5027A= (p.His1676=) c.5135A= (p.His1712=) n.11493A= n.11484A= | |
| 10 | g.53806602G>A | CA376515719 | PCDH15 | c.4059C>T c.5200C>T (p.His1734Tyr) c.5011C>T (p.His1671Tyr) c.5008C>T (p.His1670Tyr) c.1228C>T (p.His410Tyr) c.5023C>T (p.His1675Tyr) c.5005C>T (p.His1669Tyr) c.1360C>T (p.His454Tyr) c.5026C>T (p.His1676Tyr) c.5134C>T (p.His1712Tyr) n.11492C>T n.11483C>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.53806602G>C | CA376515717 | PCDH15 | c.4059C>G c.5200C>G (p.His1734Asp) c.5011C>G (p.His1671Asp) c.5008C>G (p.His1670Asp) c.1228C>G (p.His410Asp) c.5023C>G (p.His1675Asp) c.5005C>G (p.His1669Asp) c.1360C>G (p.His454Asp) c.5026C>G (p.His1676Asp) c.5134C>G (p.His1712Asp) n.11492C>G n.11483C>G | |
| 10 | g.53806602G= | CA1910755738 | PCDH15 | c.4059C= c.5200C= (p.His1734=) c.5011C= (p.His1671=) c.5008C= (p.His1670=) c.1228C= (p.His410=) c.5023C= (p.His1675=) c.5005C= (p.His1669=) c.1360C= (p.His454=) c.5026C= (p.His1676=) c.5134C= (p.His1712=) n.11492C= n.11483C= | |
| 10 | g.53806602G>T | CA376515715 | PCDH15 | c.4059C>A c.5200C>A (p.His1734Asn) c.5011C>A (p.His1671Asn) c.5008C>A (p.His1670Asn) c.1228C>A (p.His410Asn) c.5023C>A (p.His1675Asn) c.5005C>A (p.His1669Asn) c.1360C>A (p.His454Asn) c.5026C>A (p.His1676Asn) c.5134C>A (p.His1712Asn) n.11492C>A n.11483C>A | |
| 10 | g.53806603G>A | CA469545233 | PCDH15 | c.4058C>T c.5199C>T (p.Leu1733=) c.5010C>T (p.Leu1670=) c.5007C>T (p.Leu1669=) c.1227C>T (p.Leu409=) c.5022C>T (p.Leu1674=) c.5004C>T (p.Leu1668=) c.1359C>T (p.Leu453=) c.5025C>T (p.Leu1675=) c.5133C>T (p.Leu1711=) n.11491C>T n.11482C>T | gnomAD v4 |
| 10 | g.53806603G>C | CA469545234 | PCDH15 | c.4058C>G c.5199C>G (p.Leu1733=) c.5010C>G (p.Leu1670=) c.5007C>G (p.Leu1669=) c.1227C>G (p.Leu409=) c.5022C>G (p.Leu1674=) c.5004C>G (p.Leu1668=) c.1359C>G (p.Leu453=) c.5025C>G (p.Leu1675=) c.5133C>G (p.Leu1711=) n.11491C>G n.11482C>G | gnomAD v4 |
| 10 | g.53806603G>T | CA469545235 | PCDH15 | c.4058C>A c.5199C>A (p.Leu1733=) c.5010C>A (p.Leu1670=) c.5007C>A (p.Leu1669=) c.1227C>A (p.Leu409=) c.5022C>A (p.Leu1674=) c.5004C>A (p.Leu1668=) c.1359C>A (p.Leu453=) c.5025C>A (p.Leu1675=) c.5133C>A (p.Leu1711=) n.11491C>A n.11482C>A | |
| 10 | g.53806604A>C | CA376515720 | PCDH15 | c.4057T>G c.5198T>G (p.Leu1733Arg) c.5009T>G (p.Leu1670Arg) c.5006T>G (p.Leu1669Arg) c.1226T>G (p.Leu409Arg) c.5021T>G (p.Leu1674Arg) c.5003T>G (p.Leu1668Arg) c.1358T>G (p.Leu453Arg) c.5024T>G (p.Leu1675Arg) c.5132T>G (p.Leu1711Arg) n.11490T>G n.11481T>G | |
| 10 | g.53806604A>G | CA376515721 | PCDH15 | c.4057T>C c.5198T>C (p.Leu1733Pro) c.5009T>C (p.Leu1670Pro) c.5006T>C (p.Leu1669Pro) c.1226T>C (p.Leu409Pro) c.5021T>C (p.Leu1674Pro) c.5003T>C (p.Leu1668Pro) c.1358T>C (p.Leu453Pro) c.5024T>C (p.Leu1675Pro) c.5132T>C (p.Leu1711Pro) n.11490T>C n.11481T>C | |
| 10 | g.53806604A>T | CA376515722 | PCDH15 | c.4057T>A c.5198T>A (p.Leu1733His) c.5009T>A (p.Leu1670His) c.5006T>A (p.Leu1669His) c.1226T>A (p.Leu409His) c.5021T>A (p.Leu1674His) c.5003T>A (p.Leu1668His) c.1358T>A (p.Leu453His) c.5024T>A (p.Leu1675His) c.5132T>A (p.Leu1711His) n.11490T>A n.11481T>A | |
| 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.53806605G>A | CA207195637 | PCDH15 | c.4056C>T c.5197C>T (p.Leu1733Phe) c.5008C>T (p.Leu1670Phe) c.5005C>T (p.Leu1669Phe) c.1225C>T (p.Leu409Phe) c.5020C>T (p.Leu1674Phe) c.5002C>T (p.Leu1668Phe) c.1357C>T (p.Leu453Phe) c.5023C>T (p.Leu1675Phe) c.5131C>T (p.Leu1711Phe) n.11489C>T n.11480C>T | dbSNP |
| 10 | g.53806605G>C | CA376515723 | PCDH15 | c.4056C>G c.5197C>G (p.Leu1733Val) c.5008C>G (p.Leu1670Val) c.5005C>G (p.Leu1669Val) c.1225C>G (p.Leu409Val) c.5020C>G (p.Leu1674Val) c.5002C>G (p.Leu1668Val) c.1357C>G (p.Leu453Val) c.5023C>G (p.Leu1675Val) c.5131C>G (p.Leu1711Val) n.11489C>G n.11480C>G | |
| 10 | g.53806605G= | CA1910755744 | PCDH15 | c.4056C= c.5197C= (p.Leu1733=) c.5008C= (p.Leu1670=) c.5005C= (p.Leu1669=) c.1225C= (p.Leu409=) c.5020C= (p.Leu1674=) c.5002C= (p.Leu1668=) c.1357C= (p.Leu453=) c.5023C= (p.Leu1675=) c.5131C= (p.Leu1711=) n.11489C= n.11480C= | |
| 10 | g.53806605G>T | CA5504492 | PCDH15 | c.4056C>A c.5197C>A (p.Leu1733Ile) c.5008C>A (p.Leu1670Ile) c.5005C>A (p.Leu1669Ile) c.1225C>A (p.Leu409Ile) c.5020C>A (p.Leu1674Ile) c.5002C>A (p.Leu1668Ile) c.1357C>A (p.Leu453Ile) c.5023C>A (p.Leu1675Ile) c.5131C>A (p.Leu1711Ile) n.11489C>A n.11480C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.53806606del | CA2573106141 | PCDH15 | c.4056del c.5197del (p.Leu1733SerfsTer5) c.5008del (p.Leu1670SerfsTer5) c.5005del (p.Leu1669SerfsTer5) c.1225del (p.Leu409SerfsTer5) c.5020del (p.Leu1674SerfsTer5) c.5002del (p.Leu1668SerfsTer5) c.1357del (p.Leu453SerfsTer5) c.5023del (p.Leu1675SerfsTer5) c.5131del (p.Leu1711SerfsTer5) n.11489del n.11480del | gnomAD v4 |
| 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.53806606G>A | CA469545236 | PCDH15 | c.4055C>T c.5196C>T (p.Asn1732=) c.5007C>T (p.Asn1669=) c.5004C>T (p.Asn1668=) c.1224C>T (p.Asn408=) c.5019C>T (p.Asn1673=) c.5001C>T (p.Asn1667=) c.1356C>T (p.Asn452=) c.5022C>T (p.Asn1674=) c.5130C>T (p.Asn1710=) n.11488C>T n.11479C>T | dbSNP gnomAD v4 |
| 10 | g.53806606G>C | CA376515724 | PCDH15 | c.4055C>G c.5196C>G (p.Asn1732Lys) c.5007C>G (p.Asn1669Lys) c.5004C>G (p.Asn1668Lys) c.1224C>G (p.Asn408Lys) c.5019C>G (p.Asn1673Lys) c.5001C>G (p.Asn1667Lys) c.1356C>G (p.Asn452Lys) c.5022C>G (p.Asn1674Lys) c.5130C>G (p.Asn1710Lys) n.11488C>G n.11479C>G | |
| 10 | g.53806606G= | CA1910755754 | PCDH15 | c.4055C= c.5196C= (p.Asn1732=) c.5007C= (p.Asn1669=) c.5004C= (p.Asn1668=) c.1224C= (p.Asn408=) c.5019C= (p.Asn1673=) c.5001C= (p.Asn1667=) c.1356C= (p.Asn452=) c.5022C= (p.Asn1674=) c.5130C= (p.Asn1710=) n.11488C= n.11479C= | |
| 10 | g.53806606G>T | CA376515725 | PCDH15 | c.4055C>A c.5196C>A (p.Asn1732Lys) c.5007C>A (p.Asn1669Lys) c.5004C>A (p.Asn1668Lys) c.1224C>A (p.Asn408Lys) c.5019C>A (p.Asn1673Lys) c.5001C>A (p.Asn1667Lys) c.1356C>A (p.Asn452Lys) c.5022C>A (p.Asn1674Lys) c.5130C>A (p.Asn1710Lys) n.11488C>A n.11479C>A | dbSNP |
| 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.53806607T>A | CA376515726 | PCDH15 | c.4054A>T c.5195A>T (p.Asn1732Ile) c.5006A>T (p.Asn1669Ile) c.5003A>T (p.Asn1668Ile) c.1223A>T (p.Asn408Ile) c.5018A>T (p.Asn1673Ile) c.5000A>T (p.Asn1667Ile) c.1355A>T (p.Asn452Ile) c.5021A>T (p.Asn1674Ile) c.5129A>T (p.Asn1710Ile) n.11487A>T n.11478A>T | |
| 10 | g.53806607T>C | CA5504493 | PCDH15 | c.4054A>G c.5195A>G (p.Asn1732Ser) c.5006A>G (p.Asn1669Ser) c.5003A>G (p.Asn1668Ser) c.1223A>G (p.Asn408Ser) c.5018A>G (p.Asn1673Ser) c.5000A>G (p.Asn1667Ser) c.1355A>G (p.Asn452Ser) c.5021A>G (p.Asn1674Ser) c.5129A>G (p.Asn1710Ser) n.11487A>G n.11478A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.53806607T>G | CA376515727 | PCDH15 | c.4054A>C c.5195A>C (p.Asn1732Thr) c.5006A>C (p.Asn1669Thr) c.5003A>C (p.Asn1668Thr) c.1223A>C (p.Asn408Thr) c.5018A>C (p.Asn1673Thr) c.5000A>C (p.Asn1667Thr) c.1355A>C (p.Asn452Thr) c.5021A>C (p.Asn1674Thr) c.5129A>C (p.Asn1710Thr) n.11487A>C n.11478A>C | gnomAD v4 |
| 10 | g.53806607T= | CA1910755762 | PCDH15 | c.4054A= c.5195A= (p.Asn1732=) c.5006A= (p.Asn1669=) c.5003A= (p.Asn1668=) c.1223A= (p.Asn408=) c.5018A= (p.Asn1673=) c.5000A= (p.Asn1667=) c.1355A= (p.Asn452=) c.5021A= (p.Asn1674=) c.5129A= (p.Asn1710=) n.11487A= n.11478A= | |
| 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 |