Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.137567463G>A | CA414770654 | ZIC3 | c.772G>A (p.Glu258Lys) | |
X | g.137567463G>C | CA414770655 | ZIC3 | c.772G>C (p.Glu258Gln) | |
X | g.137567463G>T | CA414770656 | ZIC3 | c.772G>T (p.Glu258Ter) | |
X | g.137567464A= | CA2460728154 | ZIC3 | c.773A= (p.Glu258=) | |
X | g.137567464A>C | CA414770657 | ZIC3 | c.773A>C (p.Glu258Ala) | dbSNP |
X | g.137567464A>G | CA414770658 | ZIC3 | c.773A>G (p.Glu258Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.137567464A>T | CA414770659 | ZIC3 | c.773A>T (p.Glu258Val) | |
X | g.137567465G>A | CA518857742 | ZIC3 | c.774G>A (p.Glu258=) | gnomAD v4 |
X | g.137567465G>C | CA414770660 | ZIC3 | c.774G>C (p.Glu258Asp) | |
X | g.137567465G>T | CA414770661 | ZIC3 | c.774G>T (p.Glu258Asp) | |
X | g.137567466G>A | CA414770664 | ZIC3 | c.775G>A (p.Ala259Thr) | |
X | g.137567466G>C | CA414770663 | ZIC3 | c.775G>C (p.Ala259Pro) | dbSNP |
X | g.137567466G= | CA2460728155 | ZIC3 | c.775G= (p.Ala259=) | |
X | g.137567466G>T | CA414770662 | ZIC3 | c.775G>T (p.Ala259Ser) | |
X | g.137567467C>A | CA414770665 | ZIC3 | c.776C>A (p.Ala259Asp) | |
X | g.137567467C= | CA2460728156 | ZIC3 | c.776C= (p.Ala259=) | |
X | g.137567467C>G | CA414770666 | ZIC3 | c.776C>G (p.Ala259Gly) | |
X | g.137567467C>T | CA336368859 | ZIC3 | c.776C>T (p.Ala259Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.137567468T>A | CA518857747 | ZIC3 | c.777T>A (p.Ala259=) | dbSNP gnomAD v4 |
X | g.137567468T>C | CA518857748 | ZIC3 | c.777T>C (p.Ala259=) | |
X | g.137567468T>G | CA518857749 | ZIC3 | c.777T>G (p.Ala259=) | |
X | g.137567468T= | CA2460728157 | ZIC3 | c.777T= (p.Ala259=) | |
X | g.137567469C>A | CA414770667 | ZIC3 | c.778C>A (p.Gln260Lys) | |
X | g.137567469C>G | CA414770668 | ZIC3 | c.778C>G (p.Gln260Glu) | |
X | g.137567469C>T | CA414770669 | ZIC3 | c.778C>T (p.Gln260Ter) | |
X | g.137567470A>C | CA414770670 | ZIC3 | c.779A>C (p.Gln260Pro) | |
X | g.137567470A>G | CA414770671 | ZIC3 | c.779A>G (p.Gln260Arg) | |
X | g.137567470A>T | CA414770672 | ZIC3 | c.779A>T (p.Gln260Leu) | |
X | g.137567471G>A | CA518857752 | ZIC3 | c.780G>A (p.Gln260=) | |
X | g.137567471G>C | CA414770673 | ZIC3 | c.780G>C (p.Gln260His) | |
X | g.137567471G>T | CA414770674 | ZIC3 | c.780G>T (p.Gln260His) | |
X | g.137567472C>A | CA414770675 | ZIC3 | c.781C>A (p.Leu261Met) | |
X | g.137567472C= | CA2460728158 | ZIC3 | c.781C= (p.Leu261=) | |
X | g.137567472C>G | CA414770676 | ZIC3 | c.781C>G (p.Leu261Val) | |
X | g.137567472C>T | CA518857753 | ZIC3 | c.781C>T (p.Leu261=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.137567473T>A | CA414770677 | ZIC3 | c.782T>A (p.Leu261Gln) | |
X | g.137567473T>C | CA414770679 | ZIC3 | c.782T>C (p.Leu261Pro) | |
X | g.137567473T>G | CA414770678 | ZIC3 | c.782T>G (p.Leu261Arg) | |
X | g.137567474G>A | CA10587385 | ZIC3 | c.783G>A (p.Leu261=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.137567474G>C | CA518857756 | ZIC3 | c.783G>C (p.Leu261=) | |
X | g.137567474G= | CA2460728159 | ZIC3 | c.783G= (p.Leu261=) | |
X | g.137567474G>T | CA518857757 | ZIC3 | c.783G>T (p.Leu261=) | |
X | g.137567475A>C | CA414770680 | ZIC3 | c.784A>C (p.Ser262Arg) | |
X | g.137567475A>G | CA414770681 | ZIC3 | c.784A>G (p.Ser262Gly) | |
X | g.137567475A>T | CA414770682 | ZIC3 | c.784A>T (p.Ser262Cys) | |
X | g.137567476G>A | CA414770683 | ZIC3 | c.785G>A (p.Ser262Asn) | gnomAD v4 |
X | g.137567476G>C | CA414770684 | ZIC3 | c.785G>C (p.Ser262Thr) | |
X | g.137567476G>T | CA414770685 | ZIC3 | c.785G>T (p.Ser262Ile) | COSMIC COSMIC |
X | g.137567477C>A | CA414770686 | ZIC3 | c.786C>A (p.Ser262Arg) | |
X | g.137567477C>G | CA414770687 | ZIC3 | c.786C>G (p.Ser262Arg) |