Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.137567351_137567371dup | CA645125588 | ZIC3 | c.660_680dup (p.Gly227_Val228insProMetAsnMetAsnMetGly) | dbSNP gnomAD v2 gnomAD v4 |
X | g.137567364_137567369dup | CA10529315 | ZIC3 | c.673_678dup (p.Met226_Gly227insAsnMet) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.137567359A= | CA2460728125 | ZIC3 | c.668A= (p.Asn223=) | |
X | g.137567359A>C | CA414770418 | ZIC3 | c.668A>C (p.Asn223Thr) | |
X | g.137567359A>G | CA336368843 | ZIC3 | c.668A>G (p.Asn223Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.137567359A>T | CA414770419 | ZIC3 | c.668A>T (p.Asn223Ile) | |
X | g.137567360C>A | CA414770421 | ZIC3 | c.669C>A (p.Asn223Lys) | |
X | g.137567360C>G | CA414770420 | ZIC3 | c.669C>G (p.Asn223Lys) | |
X | g.137567360C>T | CA518857604 | ZIC3 | c.669C>T (p.Asn223=) | |
X | g.137567361A>C | CA414770422 | ZIC3 | c.670A>C (p.Met224Leu) | |
X | g.137567361A>G | CA414770424 | ZIC3 | c.670A>G (p.Met224Val) | |
X | g.137567361A>T | CA414770423 | ZIC3 | c.670A>T (p.Met224Leu) | |
X | g.137567362T>A | CA414770425 | ZIC3 | c.671T>A (p.Met224Lys) | |
X | g.137567362T>C | CA414770426 | ZIC3 | c.671T>C (p.Met224Thr) | |
X | g.137567362T>G | CA414770427 | ZIC3 | c.671T>G (p.Met224Arg) | |
X | g.137567367_137567378dup | CA2694828744 | ZIC3 | c.676_687dup (p.Asn229_Val230insMetGlyValAsn) | gnomAD v4 |
X | g.137567363G>A | CA414770428 | ZIC3 | c.672G>A (p.Met224Ile) | |
X | g.137567363G>C | CA414770429 | ZIC3 | c.672G>C (p.Met224Ile) | |
X | g.137567363G>T | CA414770430 | ZIC3 | c.672G>T (p.Met224Ile) | |
X | g.137567364A>C | CA414770431 | ZIC3 | c.673A>C (p.Asn225His) | |
X | g.137567364A>G | CA414770432 | ZIC3 | c.673A>G (p.Asn225Asp) | |
X | g.137567364A>T | CA414770433 | ZIC3 | c.673A>T (p.Asn225Tyr) | |
X | g.137567365A>C | CA414770434 | ZIC3 | c.674A>C (p.Asn225Thr) | |
X | g.137567365A>G | CA414770435 | ZIC3 | c.674A>G (p.Asn225Ser) | |
X | g.137567365A>T | CA414770436 | ZIC3 | c.674A>T (p.Asn225Ile) | |
X | g.137567366C>A | CA414770437 | ZIC3 | c.675C>A (p.Asn225Lys) | |
X | g.137567366C>G | CA414770438 | ZIC3 | c.675C>G (p.Asn225Lys) | |
X | g.137567366C>T | CA518857608 | ZIC3 | c.675C>T (p.Asn225=) | gnomAD v4 |
X | g.137567367A= | CA2460728126 | ZIC3 | c.676A= (p.Met226=) | |
X | g.137567367A>C | CA10529316 | ZIC3 | c.676A>C (p.Met226Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.137567367A>G | CA414770439 | ZIC3 | c.676A>G (p.Met226Val) | |
X | g.137567367A>T | CA414770440 | ZIC3 | c.676A>T (p.Met226Leu) | |
X | g.137567368T>A | CA414770441 | ZIC3 | c.677T>A (p.Met226Lys) | |
X | g.137567368T>C | CA414770442 | ZIC3 | c.677T>C (p.Met226Thr) | |
X | g.137567368T>G | CA414770443 | ZIC3 | c.677T>G (p.Met226Arg) | |
X | g.137567369G>A | CA414770444 | ZIC3 | c.678G>A (p.Met226Ile) | |
X | g.137567369G>C | CA414770445 | ZIC3 | c.678G>C (p.Met226Ile) | |
X | g.137567369G>T | CA414770446 | ZIC3 | c.678G>T (p.Met226Ile) | |
X | g.137567371dup | CA2695237712 | ZIC3 | c.680dup (p.Val228SerfsTer?) | |
X | g.137567370G>A | CA414770447 | ZIC3 | c.679G>A (p.Gly227Arg) | |
X | g.137567370G>C | CA414770448 | ZIC3 | c.679G>C (p.Gly227Arg) | |
X | g.137567370G>T | CA414770449 | ZIC3 | c.679G>T (p.Gly227Ter) | |
X | g.137567371G>A | CA414770450 | ZIC3 | c.680G>A (p.Gly227Glu) | |
X | g.137567371G>C | CA414770452 | ZIC3 | c.680G>C (p.Gly227Ala) | |
X | g.137567371G>T | CA414770451 | ZIC3 | c.680G>T (p.Gly227Val) | |
X | g.137567372A>C | CA518857615 | ZIC3 | c.681A>C (p.Gly227=) | |
X | g.137567372A>G | CA518857616 | ZIC3 | c.681A>G (p.Gly227=) | |
X | g.137567372A>T | CA518857617 | ZIC3 | c.681A>T (p.Gly227=) | |
X | g.137567373G>A | CA10529317 | ZIC3 | c.682G>A (p.Val228Met) | dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.137567373G>C | CA414770454 | ZIC3 | c.682G>C (p.Val228Leu) | gnomAD v4 |