| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.137567348C>A | CA414770392 | ZIC3 | c.657C>A (p.Tyr219Ter) | |
| X | g.137567348C= | CA2460728117 | ZIC3 | c.657C= (p.Tyr219=) | |
| X | g.137567348C>G | CA414770393 | ZIC3 | c.657C>G (p.Tyr219Ter) | |
| X | g.137567348C>T | CA336368838 | ZIC3 | c.657C>T (p.Tyr219=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.137567349A= | CA2460728118 | ZIC3 | c.658A= (p.Ser220=) | |
| X | g.137567349A>C | CA414770394 | ZIC3 | c.658A>C (p.Ser220Arg) | |
| X | g.137567349A>G | CA414770396 | ZIC3 | c.658A>G (p.Ser220Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567349A>T | CA414770395 | ZIC3 | c.658A>T (p.Ser220Cys) | |
| X | g.137567350G>A | CA414770397 | ZIC3 | c.659G>A (p.Ser220Asn) | gnomAD v4 |
| X | g.137567350G>C | CA414770398 | ZIC3 | c.659G>C (p.Ser220Thr) | |
| X | g.137567350G>T | CA414770399 | ZIC3 | c.659G>T (p.Ser220Ile) | COSMIC |
| X | g.137567351_137567371dup | CA645125588 | ZIC3 | c.660_680dup (p.Gly227_Val228insProMetAsnMetAsnMetGly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567351C>A | CA414770400 | ZIC3 | c.660C>A (p.Ser220Arg) | |
| X | g.137567351C= | CA2460728119 | ZIC3 | c.660C= (p.Ser220=) | |
| X | g.137567351C>G | CA414770401 | ZIC3 | c.660C>G (p.Ser220Arg) | |
| X | g.137567351C>T | CA518857587 | ZIC3 | c.660C>T (p.Ser220=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.137567352C>A | CA414770402 | ZIC3 | c.661C>A (p.Pro221Thr) | |
| X | g.137567352C= | CA2460728120 | ZIC3 | c.661C= (p.Pro221=) | |
| X | g.137567352C>G | CA10529314 | ZIC3 | c.661C>G (p.Pro221Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567352C>T | CA414770403 | ZIC3 | c.661C>T (p.Pro221Ser) | |
| X | g.137567353C>A | CA414770404 | ZIC3 | c.662C>A (p.Pro221His) | COSMIC COSMIC |
| X | g.137567353C= | CA2460728121 | ZIC3 | c.662C= (p.Pro221=) | |
| X | g.137567353C>G | CA414770405 | ZIC3 | c.662C>G (p.Pro221Arg) | gnomAD v4 |
| X | g.137567353C>T | CA414770406 | ZIC3 | c.662C>T (p.Pro221Leu) | |
| X | g.137567354C>A | CA518857590 | ZIC3 | c.663C>A (p.Pro221=) | |
| X | g.137567354C>G | CA518857591 | ZIC3 | c.663C>G (p.Pro221=) | |
| X | g.137567354C>T | CA518857592 | ZIC3 | c.663C>T (p.Pro221=) | |
| X | g.137567364_137567369dup | CA10529315 | ZIC3 | c.673_678dup (p.Met226_Gly227insAsnMet) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567355A= | CA2460728122 | ZIC3 | c.664A= (p.Met222=) | |
| X | g.137567355A>C | CA414770409 | ZIC3 | c.664A>C (p.Met222Leu) | |
| X | g.137567355A>G | CA414770407 | ZIC3 | c.664A>G (p.Met222Val) | dbSNP gnomAD v4 |
| X | g.137567355A>T | CA414770408 | ZIC3 | c.664A>T (p.Met222Leu) | |
| X | g.137567356T>A | CA414770410 | ZIC3 | c.665T>A (p.Met222Lys) | dbSNP gnomAD v4 |
| X | g.137567356T>C | CA414770411 | ZIC3 | c.665T>C (p.Met222Thr) | |
| X | g.137567356T>G | CA414770412 | ZIC3 | c.665T>G (p.Met222Arg) | |
| X | g.137567356T= | CA2460728123 | ZIC3 | c.665T= (p.Met222=) | |
| X | g.137567357G>A | CA414770413 | ZIC3 | c.666G>A (p.Met222Ile) | |
| X | g.137567357G>C | CA414770414 | ZIC3 | c.666G>C (p.Met222Ile) | |
| X | g.137567357G>T | CA414770415 | ZIC3 | c.666G>T (p.Met222Ile) | |
| X | g.137567358A= | CA2460728124 | ZIC3 | c.667A= (p.Asn223=) | |
| X | g.137567358A>C | CA414770416 | ZIC3 | c.667A>C (p.Asn223His) | |
| X | g.137567358A>G | CA336368841 | ZIC3 | c.667A>G (p.Asn223Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567358A>T | CA414770417 | ZIC3 | c.667A>T (p.Asn223Tyr) | |
| 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=) |