Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.100407366_100407373del | CA2695235319 | PCDH19 | c.1229_1236del (p.Arg410ProfsTer?) | |
X | g.100407364C>A | CA414003536 | PCDH19 | c.1234G>T (p.Asp412Tyr) | |
X | g.100407364C>G | CA414003537 | PCDH19 | c.1234G>C (p.Asp412His) | |
X | g.100407364C>T | CA414003538 | PCDH19 | c.1234G>A (p.Asp412Asn) | gnomAD v4 |
X | g.100407365C>A | CA517747937 | PCDH19 | c.1233G>T (p.Leu411=) | |
X | g.100407365C>G | CA517747939 | PCDH19 | c.1233G>C (p.Leu411=) | |
X | g.100407365C>T | CA517747938 | PCDH19 | c.1233G>A (p.Leu411=) | COSMIC |
X | g.100407366A>C | CA414003539 | PCDH19 | c.1232T>G (p.Leu411Arg) | |
X | g.100407366A>G | CA414003540 | PCDH19 | c.1232T>C (p.Leu411Pro) | |
X | g.100407366A>T | CA414003541 | PCDH19 | c.1232T>A (p.Leu411Gln) | ClinVar |
X | g.100407367G>A | CA517747940 | PCDH19 | c.1231C>T (p.Leu411=) | |
X | g.100407367G>C | CA414003542 | PCDH19 | c.1231C>G (p.Leu411Val) | |
X | g.100407367G>T | CA414003544 | PCDH19 | c.1231C>A (p.Leu411Met) | |
X | g.100407368C>A | CA10468906 | PCDH19 | c.1230G>T (p.Arg410=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100407368C= | CA2447976698 | PCDH19 | c.1230G= (p.Arg410=) | |
X | g.100407368C>G | CA517747941 | PCDH19 | c.1230G>C (p.Arg410=) | |
X | g.100407368C>T | CA517747942 | PCDH19 | c.1230G>A (p.Arg410=) | |
X | g.100407369C>A | CA414003556 | PCDH19 | c.1229G>T (p.Arg410Leu) | |
X | g.100407369C>G | CA414003559 | PCDH19 | c.1229G>C (p.Arg410Pro) | |
X | g.100407369C>T | CA414003550 | PCDH19 | c.1229G>A (p.Arg410Gln) | |
X | g.100407370G>A | CA414003563 | PCDH19 | c.1228C>T (p.Arg410Trp) | COSMIC |
X | g.100407370G>C | CA414003565 | PCDH19 | c.1228C>G (p.Arg410Gly) | ClinVar |
X | g.100407370G>T | CA517747943 | PCDH19 | c.1228C>A (p.Arg410=) | |
X | g.100407371T>A | CA517747944 | PCDH19 | c.1227A>T (p.Gly409=) | |
X | g.100407371T>C | CA517747945 | PCDH19 | c.1227A>G (p.Gly409=) | |
X | g.100407371T>G | CA517747946 | PCDH19 | c.1227A>C (p.Gly409=) | |
X | g.100407372C>A | CA414003567 | PCDH19 | c.1226G>T (p.Gly409Val) | |
X | g.100407372C= | CA2447976699 | PCDH19 | c.1226G= (p.Gly409=) | |
X | g.100407372C>G | CA10468907 | PCDH19 | c.1226G>C (p.Gly409Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.100407372C>T | CA414003569 | PCDH19 | c.1226G>A (p.Gly409Glu) | |
X | g.100407373C>A | CA414003577 | PCDH19 | c.1225G>T (p.Gly409Ter) | |
X | g.100407373C= | CA2447976700 | PCDH19 | c.1225G= (p.Gly409=) | |
X | g.100407373C>G | CA414003573 | PCDH19 | c.1225G>C (p.Gly409Arg) | ClinVar dbSNP |
X | g.100407373C>T | CA414003575 | PCDH19 | c.1225G>A (p.Gly409Arg) | dbSNP gnomAD v4 |
X | g.100407374G>A | CA517747947 | PCDH19 | c.1224C>T (p.Asp408=) | COSMIC |
X | g.100407374G>C | CA414003582 | PCDH19 | c.1224C>G (p.Asp408Glu) | |
X | g.100407374G>T | CA414003584 | PCDH19 | c.1224C>A (p.Asp408Glu) | |
X | g.100407375T>A | CA414003585 | PCDH19 | c.1223A>T (p.Asp408Val) | |
X | g.100407375T>C | CA414003586 | PCDH19 | c.1223A>G (p.Asp408Gly) | |
X | g.100407375T>G | CA414003588 | PCDH19 | c.1223A>C (p.Asp408Ala) | |
X | g.100407376C>A | CA414003604 | PCDH19 | c.1222G>T (p.Asp408Tyr) | |
X | g.100407376C>G | CA414003601 | PCDH19 | c.1222G>C (p.Asp408His) | |
X | g.100407376C>T | CA414003591 | PCDH19 | c.1222G>A (p.Asp408Asn) | |
X | g.100407377C>A | CA517747948 | PCDH19 | c.1221G>T (p.Val407=) | |
X | g.100407377C>G | CA517747949 | PCDH19 | c.1221G>C (p.Val407=) | |
X | g.100407377C>T | CA517747950 | PCDH19 | c.1221G>A (p.Val407=) | |
X | g.100407378A>C | CA414003608 | PCDH19 | c.1220T>G (p.Val407Gly) | |
X | g.100407378A>G | CA414003613 | PCDH19 | c.1220T>C (p.Val407Ala) | |
X | g.100407378A>T | CA414003611 | PCDH19 | c.1220T>A (p.Val407Glu) | |
X | g.100407379C>A | CA414003615 | PCDH19 | c.1219G>T (p.Val407Leu) |