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.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=) | |
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) |