Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.100407384A>C | CA414003639 | PCDH19 | c.1214T>G (p.Ile405Ser) | |
X | g.100407384A>G | CA414003641 | PCDH19 | c.1214T>C (p.Ile405Thr) | |
X | g.100407384A>T | CA414003642 | PCDH19 | c.1214T>A (p.Ile405Asn) | |
X | g.100407385T>A | CA414003645 | PCDH19 | c.1213A>T (p.Ile405Phe) | |
X | g.100407385T>C | CA414003652 | PCDH19 | c.1213A>G (p.Ile405Val) | |
X | g.100407385T>G | CA414003647 | PCDH19 | c.1213A>C (p.Ile405Leu) | |
X | g.100407386A>C | CA517747961 | PCDH19 | c.1212T>G (p.Thr404=) | gnomAD v4 |
X | g.100407386A>G | CA517747962 | PCDH19 | c.1212T>C (p.Thr404=) | |
X | g.100407386A>T | CA517747963 | PCDH19 | c.1212T>A (p.Thr404=) | |
X | g.100407387G>A | CA414003656 | PCDH19 | c.1211C>T (p.Thr404Ile) | ClinVar dbSNP |
X | g.100407387G>C | CA414003659 | PCDH19 | c.1211C>G (p.Thr404Ser) | |
X | g.100407387G>T | CA414003660 | PCDH19 | c.1211C>A (p.Thr404Asn) | |
X | g.100407388T>A | CA414003663 | PCDH19 | c.1210A>T (p.Thr404Ser) | |
X | g.100407388T>C | CA10468909 | PCDH19 | c.1210A>G (p.Thr404Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100407388T>G | CA414003666 | PCDH19 | c.1210A>C (p.Thr404Pro) | |
X | g.100407388T= | CA2447976702 | PCDH19 | c.1210A= (p.Thr404=) | |
X | g.100407389G>A | CA316239 | PCDH19 | c.1209C>T (p.Ser403=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100407389G>C | CA517747967 | PCDH19 | c.1209C>G (p.Ser403=) | |
X | g.100407389G= | CA2447976703 | PCDH19 | c.1209C= (p.Ser403=) | |
X | g.100407389G>T | CA517747968 | PCDH19 | c.1209C>A (p.Ser403=) | gnomAD v4 |
X | g.100407390G>A | CA414003669 | PCDH19 | c.1208C>T (p.Ser403Phe) | |
X | g.100407390G>C | CA414003671 | PCDH19 | c.1208C>G (p.Ser403Cys) | |
X | g.100407390G>T | CA414003674 | PCDH19 | c.1208C>A (p.Ser403Tyr) | |
X | g.100407391A>C | CA414003682 | PCDH19 | c.1207T>G (p.Ser403Ala) | |
X | g.100407391A>G | CA414003680 | PCDH19 | c.1207T>C (p.Ser403Pro) | |
X | g.100407391A>T | CA414003678 | PCDH19 | c.1207T>A (p.Ser403Thr) | |
X | g.100407392del | CA915951272 | PCDH19 | c.1206del (p.Ser403ProfsTer?) | ClinVar |
X | g.100407392G>A | CA517747970 | PCDH19 | c.1206C>T (p.Phe402=) | |
X | g.100407392G>C | CA414003686 | PCDH19 | c.1206C>G (p.Phe402Leu) | |
X | g.100407392G>T | CA414003684 | PCDH19 | c.1206C>A (p.Phe402Leu) | |
X | g.100407393A= | CA2447976704 | PCDH19 | c.1205T= (p.Phe402=) | |
X | g.100407393A>C | CA414003693 | PCDH19 | c.1205T>G (p.Phe402Cys) | dbSNP |
X | g.100407393A>G | CA414003695 | PCDH19 | c.1205T>C (p.Phe402Ser) | |
X | g.100407393A>T | CA414003696 | PCDH19 | c.1205T>A (p.Phe402Tyr) | |
X | g.100407394A>C | CA414003697 | PCDH19 | c.1204T>G (p.Phe402Val) | |
X | g.100407394A>G | CA414003698 | PCDH19 | c.1204T>C (p.Phe402Leu) | |
X | g.100407394A>T | CA414003699 | PCDH19 | c.1204T>A (p.Phe402Ile) | |
X | g.100407395G>A | CA517747972 | PCDH19 | c.1203C>T (p.Ser401=) | |
X | g.100407395G>C | CA414003704 | PCDH19 | c.1203C>G (p.Ser401Arg) | |
X | g.100407395G>T | CA414003707 | PCDH19 | c.1203C>A (p.Ser401Arg) | COSMIC |
X | g.100407396C>A | CA414003710 | PCDH19 | c.1202G>T (p.Ser401Ile) | |
X | g.100407396C>G | CA414003712 | PCDH19 | c.1202G>C (p.Ser401Thr) | |
X | g.100407396C>T | CA414003714 | PCDH19 | c.1202G>A (p.Ser401Asn) | |
X | g.100407397T>A | CA414003718 | PCDH19 | c.1201A>T (p.Ser401Cys) | |
X | g.100407397T>C | CA414003724 | PCDH19 | c.1201A>G (p.Ser401Gly) | |
X | g.100407397T>G | CA414003716 | PCDH19 | c.1201A>C (p.Ser401Arg) | |
X | g.100407398C>A | CA414003727 | PCDH19 | c.1200G>T (p.Glu400Asp) | |
X | g.100407398C= | CA2447976705 | PCDH19 | c.1200G= (p.Glu400=) | |
X | g.100407398C>G | CA414003728 | PCDH19 | c.1200G>C (p.Glu400Asp) | |
X | g.100407398C>T | CA10468910 | PCDH19 | c.1200G>A (p.Glu400=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |