Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.100408075_100408082del | CA2695234735 | PCDH19 | c.518_525del (p.Leu173ProfsTer?) | |
X | g.100408075del | CA316399 | PCDH19 | c.524del (p.Gly175AlafsTer?) | ClinVar dbSNP |
X | g.100408075C>A | CA414009436 | PCDH19 | c.523G>T (p.Gly175Cys) | |
X | g.100408075C>G | CA414009438 | PCDH19 | c.523G>C (p.Gly175Arg) | |
X | g.100408075C>T | CA414009440 | PCDH19 | c.523G>A (p.Gly175Ser) | gnomAD v4 |
X | g.100408076G>A | CA517748428 | PCDH19 | c.522C>T (p.Phe174=) | dbSNP gnomAD v4 |
X | g.100408076G>C | CA414009442 | PCDH19 | c.522C>G (p.Phe174Leu) | |
X | g.100408076G= | CA2447977008 | PCDH19 | c.522C= (p.Phe174=) | |
X | g.100408076G>T | CA414009444 | PCDH19 | c.522C>A (p.Phe174Leu) | gnomAD v4 |
X | g.100408077A>C | CA414009447 | PCDH19 | c.521T>G (p.Phe174Cys) | |
X | g.100408077A>G | CA414009448 | PCDH19 | c.521T>C (p.Phe174Ser) | |
X | g.100408077A>T | CA414009446 | PCDH19 | c.521T>A (p.Phe174Tyr) | |
X | g.100408078A>C | CA414009449 | PCDH19 | c.520T>G (p.Phe174Val) | |
X | g.100408078A>G | CA414009450 | PCDH19 | c.520T>C (p.Phe174Leu) | |
X | g.100408078A>T | CA414009451 | PCDH19 | c.520T>A (p.Phe174Ile) | |
X | g.100408079C>A | CA517748444 | PCDH19 | c.519G>T (p.Leu173=) | gnomAD v4 |
X | g.100408079C= | CA2447977009 | PCDH19 | c.519G= (p.Leu173=) | |
X | g.100408079C>G | CA517748446 | PCDH19 | c.519G>C (p.Leu173=) | |
X | g.100408079C>T | CA517748445 | PCDH19 | c.519G>A (p.Leu173=) | dbSNP gnomAD v2 |
X | g.100408080A= | CA2447977010 | PCDH19 | c.518T= (p.Leu173=) | |
X | g.100408080A>C | CA414009452 | PCDH19 | c.518T>G (p.Leu173Arg) | |
X | g.100408080A>G | CA414009453 | PCDH19 | c.518T>C (p.Leu173Pro) | gnomAD v4 |
X | g.100408080A>T | CA414009454 | PCDH19 | c.518T>A (p.Leu173Gln) | dbSNP gnomAD v3 gnomAD v4 |
X | g.100408081G>A | CA517748455 | PCDH19 | c.517C>T (p.Leu173=) | dbSNP gnomAD v4 |
X | g.100408081G>C | CA414009455 | PCDH19 | c.517C>G (p.Leu173Val) | |
X | g.100408081G= | CA2447977011 | PCDH19 | c.517C= (p.Leu173=) | |
X | g.100408081G>T | CA414009456 | PCDH19 | c.517C>A (p.Leu173Met) | |
X | g.100408082C>A | CA414009457 | PCDH19 | c.516G>T (p.Glu172Asp) | |
X | g.100408082C= | CA2447977012 | PCDH19 | c.516G= (p.Glu172=) | |
X | g.100408082C>G | CA10468985 | PCDH19 | c.516G>C (p.Glu172Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.100408082C>T | CA517748463 | PCDH19 | c.516G>A (p.Glu172=) | |
X | g.100408083del | CA2580100079 | PCDH19 | c.515del (p.Glu172GlyfsTer?) | ClinVar |
X | g.100408083T>A | CA414009458 | PCDH19 | c.515A>T (p.Glu172Val) | |
X | g.100408083T>C | CA414009459 | PCDH19 | c.515A>G (p.Glu172Gly) | |
X | g.100408083T>G | CA414009460 | PCDH19 | c.515A>C (p.Glu172Ala) | |
X | g.100408084C>A | CA414009463 | PCDH19 | c.514G>T (p.Glu172Ter) | ClinVar dbSNP |
X | g.100408084C= | CA2447977013 | PCDH19 | c.514G= (p.Glu172=) | |
X | g.100408084C>G | CA414009461 | PCDH19 | c.514G>C (p.Glu172Gln) | |
X | g.100408084C>T | CA414009462 | PCDH19 | c.514G>A (p.Glu172Lys) | |
X | g.100408084dup | CA2695234736 | PCDH19 | c.514dup (p.Glu172GlyfsTer?) | |
X | g.100408084_100408108delinsCGTTGGGCGTGAGCTCGTAAGTCTG | CA2447977014 | PCDH19 | c.490_514delinsCAGACTTACGAGCTCACGCCCAACG (p.Gln164=) | |
X | g.100408085G>A | CA316236 | PCDH19 | c.513C>T (p.Asn171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.100408085G>C | CA414009465 | PCDH19 | c.513C>G (p.Asn171Lys) | ClinVar dbSNP gnomAD v4 |
X | g.100408085G= | CA2447977015 | PCDH19 | c.513C= (p.Asn171=) | |
X | g.100408085G>T | CA414009464 | PCDH19 | c.513C>A (p.Asn171Lys) | gnomAD v4 |
X | g.100408085_100408108del | CA1139667695 | PCDH19 | c.490_513del (p.Gln164_Asn171del) | ClinVar dbSNP |
X | g.100408086T>A | CA414009466 | PCDH19 | c.512A>T (p.Asn171Ile) | |
X | g.100408086T>C | CA10468986 | PCDH19 | c.512A>G (p.Asn171Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.100408086T>G | CA414009467 | PCDH19 | c.512A>C (p.Asn171Thr) | dbSNP |
X | g.100408086T= | CA2447977016 | PCDH19 | c.512A= (p.Asn171=) |