| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100407163C>A | CA414002733 | PCDH19 | c.1435G>T (p.Asp479Tyr) | |
| X | g.100407163C= | CA2447976613 | PCDH19 | c.1435G= (p.Asp479=) | |
| X | g.100407163C>G | CA414002734 | PCDH19 | c.1435G>C (p.Asp479His) | |
| X | g.100407163C>T | CA16621147 | PCDH19 | c.1435G>A (p.Asp479Asn) | ClinVar dbSNP COSMIC |
| X | g.100407164G>A | CA10468884 | PCDH19 | c.1434C>T (p.Arg478=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407164G>C | CA517748347 | PCDH19 | c.1434C>G (p.Arg478=) | |
| X | g.100407164G= | CA2447976614 | PCDH19 | c.1434C= (p.Arg478=) | |
| X | g.100407164G>T | CA517748348 | PCDH19 | c.1434C>A (p.Arg478=) | |
| X | g.100407165C>A | CA414002735 | PCDH19 | c.1433G>T (p.Arg478Leu) | |
| X | g.100407165C= | CA2447976615 | PCDH19 | c.1433G= (p.Arg478=) | |
| X | g.100407165C>G | CA414002736 | PCDH19 | c.1433G>C (p.Arg478Pro) | |
| X | g.100407165C>T | CA10468885 | PCDH19 | c.1433G>A (p.Arg478His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407166G>A | CA414002739 | PCDH19 | c.1432C>T (p.Arg478Cys) | ClinVar gnomAD v4 |
| X | g.100407166G>C | CA414002738 | PCDH19 | c.1432C>G (p.Arg478Gly) | |
| X | g.100407166G= | CA2447976616 | PCDH19 | c.1432C= (p.Arg478=) | |
| X | g.100407166G>T | CA414002737 | PCDH19 | c.1432C>A (p.Arg478Ser) | dbSNP gnomAD v2 |
| X | g.100407167A>C | CA517748361 | PCDH19 | c.1431T>G (p.Ala477=) | |
| X | g.100407167A>G | CA517748362 | PCDH19 | c.1431T>C (p.Ala477=) | ClinVar |
| X | g.100407167A>T | CA517748360 | PCDH19 | c.1431T>A (p.Ala477=) | |
| X | g.100407168G>A | CA414002740 | PCDH19 | c.1430C>T (p.Ala477Val) | ClinVar |
| X | g.100407168G>C | CA414002741 | PCDH19 | c.1430C>G (p.Ala477Gly) | |
| X | g.100407168G>T | CA414002742 | PCDH19 | c.1430C>A (p.Ala477Asp) | ClinVar |
| X | g.100407169C>A | CA414002743 | PCDH19 | c.1429G>T (p.Ala477Ser) | |
| X | g.100407169C>G | CA414002744 | PCDH19 | c.1429G>C (p.Ala477Pro) | |
| X | g.100407169C>T | CA414002745 | PCDH19 | c.1429G>A (p.Ala477Thr) | |
| X | g.100407170A>C | CA517748369 | PCDH19 | c.1428T>G (p.Ser476=) | |
| X | g.100407170A>G | CA517748366 | PCDH19 | c.1428T>C (p.Ser476=) | |
| X | g.100407170A>T | CA517748368 | PCDH19 | c.1428T>A (p.Ser476=) | |
| X | g.100407171G>A | CA414002746 | PCDH19 | c.1427C>T (p.Ser476Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.100407171G>C | CA414002747 | PCDH19 | c.1427C>G (p.Ser476Cys) | dbSNP gnomAD v4 |
| X | g.100407171G= | CA2447976617 | PCDH19 | c.1427C= (p.Ser476=) | |
| X | g.100407171G>T | CA414002748 | PCDH19 | c.1427C>A (p.Ser476Tyr) | |
| X | g.100407172A>C | CA414002749 | PCDH19 | c.1426T>G (p.Ser476Ala) | |
| X | g.100407172A>G | CA414002750 | PCDH19 | c.1426T>C (p.Ser476Pro) | |
| X | g.100407172A>T | CA414002751 | PCDH19 | c.1426T>A (p.Ser476Thr) | |
| X | g.100407175_100407176del | CA2580612443 | PCDH19 | c.1425_1426del (p.Ser476CysfsTer?) | ClinVar dbSNP |
| X | g.100407173C>A | CA517748377 | PCDH19 | c.1425G>T (p.Val475=) | |
| X | g.100407173C>G | CA517748380 | PCDH19 | c.1425G>C (p.Val475=) | |
| X | g.100407173C>T | CA517748379 | PCDH19 | c.1425G>A (p.Val475=) | |
| X | g.100407174A>C | CA414002753 | PCDH19 | c.1424T>G (p.Val475Gly) | |
| X | g.100407174A>G | CA414002754 | PCDH19 | c.1424T>C (p.Val475Ala) | gnomAD v4 |
| X | g.100407174A>T | CA414002752 | PCDH19 | c.1424T>A (p.Val475Glu) | |
| X | g.100407175C>A | CA414002755 | PCDH19 | c.1423G>T (p.Val475Leu) | |
| X | g.100407175C= | CA2447976619 | PCDH19 | c.1423G= (p.Val475=) | |
| X | g.100407175C>G | CA414002756 | PCDH19 | c.1423G>C (p.Val475Leu) | dbSNP gnomAD v4 |
| X | g.100407175C>T | CA414002757 | PCDH19 | c.1423G>A (p.Val475Met) | |
| X | g.100407175_100407179delinsCAGAG | CA2447976618 | PCDH19 | c.1419_1423delinsCTCTG (p.Leu473=) | |
| X | g.100407176A= | CA2447976620 | PCDH19 | c.1422T= (p.Ser474=) | |
| X | g.100407176A>C | CA517748388 | PCDH19 | c.1422T>G (p.Ser474=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407176A>G | CA517748390 | PCDH19 | c.1422T>C (p.Ser474=) |