Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.100407790_100407793dup | CA2499226257 | PCDH19 | c.807_810dup (p.Gly271GlnfsTer?) | ClinVar dbSNP |
X | g.100407791G>A | CA517748089 | PCDH19 | c.807C>T (p.Thr269=) | |
X | g.100407791G>C | CA517748091 | PCDH19 | c.807C>G (p.Thr269=) | |
X | g.100407791G= | CA2447976865 | PCDH19 | c.807C= (p.Thr269=) | |
X | g.100407791G>T | CA517748095 | PCDH19 | c.807C>A (p.Thr269=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.100407792del | CA2579659316 | PCDH19 | c.807del (p.Asn270ThrfsTer?) | |
X | g.100407792G>A | CA414008009 | PCDH19 | c.806C>T (p.Thr269Ile) | dbSNP |
X | g.100407792G>C | CA414008011 | PCDH19 | c.806C>G (p.Thr269Ser) | |
X | g.100407792G= | CA2447976867 | PCDH19 | c.806C= (p.Thr269=) | |
X | g.100407792G>T | CA414008013 | PCDH19 | c.806C>A (p.Thr269Asn) | |
X | g.100407792_100407793delinsGT | CA2447976866 | PCDH19 | c.805_806delinsAC (p.Thr269=) | |
X | g.100407793del | CA316400 | PCDH19 | c.805del (p.Thr269ProfsTer?) | ClinVar dbSNP |
X | g.100407793T>A | CA414008015 | PCDH19 | c.805A>T (p.Thr269Ser) | |
X | g.100407793T>C | CA414008018 | PCDH19 | c.805A>G (p.Thr269Ala) | |
X | g.100407793T>G | CA414008020 | PCDH19 | c.805A>C (p.Thr269Pro) | |
X | g.100407794G>A | CA517748107 | PCDH19 | c.804C>T (p.Gly268=) | ClinVar gnomAD v4 |
X | g.100407794G>C | CA517748105 | PCDH19 | c.804C>G (p.Gly268=) | |
X | g.100407794G>T | CA517748106 | PCDH19 | c.804C>A (p.Gly268=) | |
X | g.100407795C>A | CA414008024 | PCDH19 | c.803G>T (p.Gly268Val) | |
X | g.100407795C>G | CA414008028 | PCDH19 | c.803G>C (p.Gly268Ala) | |
X | g.100407795C>T | CA414008026 | PCDH19 | c.803G>A (p.Gly268Asp) | COSMIC |
X | g.100407796C>A | CA414008031 | PCDH19 | c.802G>T (p.Gly268Cys) | |
X | g.100407796C= | CA2447976868 | PCDH19 | c.802G= (p.Gly268=) | |
X | g.100407796C>G | CA414008033 | PCDH19 | c.802G>C (p.Gly268Arg) | |
X | g.100407796C>T | CA414008035 | PCDH19 | c.802G>A (p.Gly268Ser) | dbSNP |
X | g.100407797_100407799del | CA2697553224 | PCDH19 | c.800_802del (p.Glu267del) | ClinVar |
X | g.100407797C>A | CA414008038 | PCDH19 | c.801G>T (p.Glu267Asp) | |
X | g.100407797C>G | CA414008041 | PCDH19 | c.801G>C (p.Glu267Asp) | |
X | g.100407797C>T | CA517748115 | PCDH19 | c.801G>A (p.Glu267=) | gnomAD v4 |
X | g.100407798T>A | CA414008044 | PCDH19 | c.800A>T (p.Glu267Val) | |
X | g.100407798T>C | CA414008046 | PCDH19 | c.800A>G (p.Glu267Gly) | |
X | g.100407798T>G | CA414008048 | PCDH19 | c.800A>C (p.Glu267Ala) | |
X | g.100407799C>A | CA16608690 | PCDH19 | c.799G>T (p.Glu267Ter) | ClinVar dbSNP |
X | g.100407799C= | CA2447976869 | PCDH19 | c.799G= (p.Glu267=) | |
X | g.100407799C>G | CA414008055 | PCDH19 | c.799G>C (p.Glu267Gln) | |
X | g.100407799C>T | CA414008058 | PCDH19 | c.799G>A (p.Glu267Lys) | ClinVar dbSNP |
X | g.100407800G>A | CA10468951 | PCDH19 | c.798C>T (p.Asp266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.100407800G>C | CA414008063 | PCDH19 | c.798C>G (p.Asp266Glu) | ClinVar dbSNP |
X | g.100407800G= | CA2447976870 | PCDH19 | c.798C= (p.Asp266=) | |
X | g.100407800G>T | CA414008061 | PCDH19 | c.798C>A (p.Asp266Glu) | |
X | g.100407801T>A | CA414008071 | PCDH19 | c.797A>T (p.Asp266Val) | |
X | g.100407801T>C | CA414008067 | PCDH19 | c.797A>G (p.Asp266Gly) | |
X | g.100407801T>G | CA414008069 | PCDH19 | c.797A>C (p.Asp266Ala) | |
X | g.100407802C>A | CA414008073 | PCDH19 | c.796G>T (p.Asp266Tyr) | |
X | g.100407802C>G | CA414008075 | PCDH19 | c.796G>C (p.Asp266His) | |
X | g.100407802C>T | CA414008077 | PCDH19 | c.796G>A (p.Asp266Asn) | |
X | g.100407803T>A | CA517748128 | PCDH19 | c.795A>T (p.Pro265=) | ClinVar dbSNP gnomAD v4 |
X | g.100407803T>C | CA517748127 | PCDH19 | c.795A>G (p.Pro265=) | dbSNP gnomAD v4 |
X | g.100407803T>G | CA517748125 | PCDH19 | c.795A>C (p.Pro265=) | |
X | g.100407803T= | CA2447976871 | PCDH19 | c.795A= (p.Pro265=) |