UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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) | |
| 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 |
| X | g.137567373G= | CA2460728127 | ZIC3 | c.682G= (p.Val228=) | |
| X | g.137567373G>T | CA414770453 | ZIC3 | c.682G>T (p.Val228Leu) | |
| X | g.137567374T>A | CA414770455 | ZIC3 | c.683T>A (p.Val228Glu) | |
| X | g.137567374T>C | CA414770456 | ZIC3 | c.683T>C (p.Val228Ala) | dbSNP |
| X | g.137567374T>G | CA414770457 | ZIC3 | c.683T>G (p.Val228Gly) | |
| X | g.137567374T= | CA2460728128 | ZIC3 | c.683T= (p.Val228=) | |
| X | g.137567375G>A | CA518857618 | ZIC3 | c.684G>A (p.Val228=) | |
| X | g.137567375G>C | CA518857619 | ZIC3 | c.684G>C (p.Val228=) | |
| X | g.137567375G>T | CA518857622 | ZIC3 | c.684G>T (p.Val228=) | |
| X | g.137567376A>C | CA414770458 | ZIC3 | c.685A>C (p.Asn229His) | dbSNP |
| X | g.137567376A>G | CA414770459 | ZIC3 | c.685A>G (p.Asn229Asp) | |
| X | g.137567376A>T | CA414770460 | ZIC3 | c.685A>T (p.Asn229Tyr) | |
| X | g.137567377A= | CA2460728129 | ZIC3 | c.686A= (p.Asn229=) | |
| X | g.137567377A>C | CA10529319 | ZIC3 | c.686A>C (p.Asn229Thr) | dbSNP ExAC gnomAD v2 |
| X | g.137567377A>G | CA10529318 | ZIC3 | c.686A>G (p.Asn229Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567377A>T | CA414770461 | ZIC3 | c.686A>T (p.Asn229Ile) | |
| X | g.137567378C>A | CA414770462 | ZIC3 | c.687C>A (p.Asn229Lys) | |
| X | g.137567378C>G | CA414770463 | ZIC3 | c.687C>G (p.Asn229Lys) | |
| X | g.137567378C>T | CA518857627 | ZIC3 | c.687C>T (p.Asn229=) | gnomAD v4 COSMIC COSMIC |
| X | g.137567379G>A | CA414770466 | ZIC3 | c.688G>A (p.Val230Met) | dbSNP |
| X | g.137567379G>C | CA414770464 | ZIC3 | c.688G>C (p.Val230Leu) | |
| X | g.137567379G>T | CA414770465 | ZIC3 | c.688G>T (p.Val230Leu) | |
| X | g.137567380T>A | CA414770467 | ZIC3 | c.689T>A (p.Val230Glu) | |
| X | g.137567380T>C | CA414770468 | ZIC3 | c.689T>C (p.Val230Ala) | |
| X | g.137567380T>G | CA414770469 | ZIC3 | c.689T>G (p.Val230Gly) | |
| X | g.137567381G>A | CA518857636 | ZIC3 | c.690G>A (p.Val230=) | gnomAD v4 |
| X | g.137567381G>C | CA518857635 | ZIC3 | c.690G>C (p.Val230=) | |
| X | g.137567381G>T | CA518857634 | ZIC3 | c.690G>T (p.Val230=) | |
| X | g.137567382G>A | CA414770470 | ZIC3 | c.691G>A (p.Ala231Thr) | dbSNP gnomAD v4 |
| X | g.137567382G>C | CA414770471 | ZIC3 | c.691G>C (p.Ala231Pro) | |
| X | g.137567382G= | CA2460728130 | ZIC3 | c.691G= (p.Ala231=) | |
| X | g.137567382G>T | CA414770472 | ZIC3 | c.691G>T (p.Ala231Ser) | |
| X | g.137567383C>A | CA414770473 | ZIC3 | c.692C>A (p.Ala231Glu) | |
| X | g.137567383C= | CA2460728131 | ZIC3 | c.692C= (p.Ala231=) | |
| X | g.137567383C>G | CA10529320 | ZIC3 | c.692C>G (p.Ala231Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567383C>T | CA414770474 | ZIC3 | c.692C>T (p.Ala231Val) | |
| X | g.137567384G>A | CA10529321 | ZIC3 | c.693G>A (p.Ala231=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567384G>C | CA518857639 | ZIC3 | c.693G>C (p.Ala231=) | |
| X | g.137567384G= | CA2460728132 | ZIC3 | c.693G= (p.Ala231=) | |
| X | g.137567384G>T | CA518857640 | ZIC3 | c.693G>T (p.Ala231=) | |
| X | g.137567385G>A | CA414770476 | ZIC3 | c.694G>A (p.Ala232Thr) | gnomAD v4 |
| X | g.137567385G>C | CA414770477 | ZIC3 | c.694G>C (p.Ala232Pro) | |
| X | g.137567385G>T | CA414770475 | ZIC3 | c.694G>T (p.Ala232Ser) | |
| X | g.137567386C>A | CA414770478 | ZIC3 | c.695C>A (p.Ala232Asp) | |
| X | g.137567386C>G | CA414770479 | ZIC3 | c.695C>G (p.Ala232Gly) | |
| X | g.137567386C>T | CA414770480 | ZIC3 | c.695C>T (p.Ala232Val) | |
| X | g.137567387C>A | CA518857642 | ZIC3 | c.696C>A (p.Ala232=) | |
| X | g.137567387C>G | CA518857643 | ZIC3 | c.696C>G (p.Ala232=) | |
| X | g.137567387C>T | CA518857644 | ZIC3 | c.696C>T (p.Ala232=) | gnomAD v4 |
| X | g.137567388C>A | CA414770481 | ZIC3 | c.697C>A (p.His233Asn) | |
| X | g.137567388C>G | CA414770482 | ZIC3 | c.697C>G (p.His233Asp) | |
| X | g.137567388C>T | CA414770483 | ZIC3 | c.697C>T (p.His233Tyr) | |
| X | g.137567389A>C | CA414770486 | ZIC3 | c.698A>C (p.His233Pro) | |
| X | g.137567389A>G | CA414770484 | ZIC3 | c.698A>G (p.His233Arg) | gnomAD v4 |
| X | g.137567389A>T | CA414770485 | ZIC3 | c.698A>T (p.His233Leu) | |
| X | g.137567390C>A | CA414770487 | ZIC3 | c.699C>A (p.His233Gln) | |
| X | g.137567390C>G | CA414770488 | ZIC3 | c.699C>G (p.His233Gln) | |
| X | g.137567390C>T | CA518857649 | ZIC3 | c.699C>T (p.His233=) | |
| X | g.137567391C>A | CA414770489 | ZIC3 | c.700C>A (p.His234Asn) | dbSNP |
| X | g.137567391C= | CA2460728133 | ZIC3 | c.700C= (p.His234=) | |
| X | g.137567391C>G | CA414770490 | ZIC3 | c.700C>G (p.His234Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567391C>T | CA414770491 | ZIC3 | c.700C>T (p.His234Tyr) | |
| X | g.137567392A>C | CA414770492 | ZIC3 | c.701A>C (p.His234Pro) | |
| X | g.137567392A>G | CA414770494 | ZIC3 | c.701A>G (p.His234Arg) | |
| X | g.137567392A>T | CA414770493 | ZIC3 | c.701A>T (p.His234Leu) | |
| X | g.137567393C>A | CA414770495 | ZIC3 | c.702C>A (p.His234Gln) | |
| X | g.137567393C= | CA2460728134 | ZIC3 | c.702C= (p.His234=) | |
| X | g.137567393C>G | CA414770496 | ZIC3 | c.702C>G (p.His234Gln) | |
| X | g.137567393C>T | CA518857654 | ZIC3 | c.702C>T (p.His234=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.137567393dup | CA2694828745 | ZIC3 | c.702dup (p.Gly235ArgfsTer?) | gnomAD v4 |
| X | g.137567394G>A | CA414770497 | ZIC3 | c.703G>A (p.Gly235Arg) | gnomAD v4 |
| X | g.137567394G>C | CA414770498 | ZIC3 | c.703G>C (p.Gly235Arg) | gnomAD v4 |
| X | g.137567394G>T | CA414770499 | ZIC3 | c.703G>T (p.Gly235Trp) | |
| X | g.137567395G>A | CA414770500 | ZIC3 | c.704G>A (p.Gly235Glu) | COSMIC COSMIC |
| X | g.137567395G>C | CA414770501 | ZIC3 | c.704G>C (p.Gly235Ala) | |
| X | g.137567395G= | CA2460728135 | ZIC3 | c.704G= (p.Gly235=) | |
| X | g.137567395G>T | CA414770502 | ZIC3 | c.704G>T (p.Gly235Val) | dbSNP gnomAD v4 |
| X | g.137567396G>A | CA518857656 | ZIC3 | c.705G>A (p.Gly235=) | gnomAD v4 |
| X | g.137567396G>C | CA518857657 | ZIC3 | c.705G>C (p.Gly235=) | |
| X | g.137567396G>T | CA518857659 | ZIC3 | c.705G>T (p.Gly235=) | |
| X | g.137567397C>A | CA414770503 | ZIC3 | c.706C>A (p.Pro236Thr) | |
| X | g.137567397C>G | CA414770504 | ZIC3 | c.706C>G (p.Pro236Ala) | |
| X | g.137567397C>T | CA414770505 | ZIC3 | c.706C>T (p.Pro236Ser) | |
| X | g.137567398C>A | CA414770508 | ZIC3 | c.707C>A (p.Pro236His) | |
| X | g.137567398C>G | CA414770507 | ZIC3 | c.707C>G (p.Pro236Arg) | |
| X | g.137567398C>T | CA414770506 | ZIC3 | c.707C>T (p.Pro236Leu) | gnomAD v4 COSMIC |
| X | g.137567399C>A | CA518857662 | ZIC3 | c.708C>A (p.Pro236=) | |
| X | g.137567399C>G | CA518857663 | ZIC3 | c.708C>G (p.Pro236=) | |
| X | g.137567399C>T | CA518857664 | ZIC3 | c.708C>T (p.Pro236=) | |
| X | g.137567400G>A | CA414770509 | ZIC3 | c.709G>A (p.Gly237Ser) | |
| X | g.137567400G>C | CA414770511 | ZIC3 | c.709G>C (p.Gly237Arg) | |
| X | g.137567400G>T | CA414770510 | ZIC3 | c.709G>T (p.Gly237Cys) | |
| X | g.137567401G>A | CA414770512 | ZIC3 | c.710G>A (p.Gly237Asp) | COSMIC COSMIC |
| X | g.137567401G>C | CA414770513 | ZIC3 | c.710G>C (p.Gly237Ala) | |
| X | g.137567401G>T | CA414770514 | ZIC3 | c.710G>T (p.Gly237Val) | |
| X | g.137567402C>A | CA518857667 | ZIC3 | c.711C>A (p.Gly237=) | gnomAD v4 |
| X | g.137567402C= | CA2460728136 | ZIC3 | c.711C= (p.Gly237=) | |
| X | g.137567402C>G | CA10529322 | ZIC3 | c.711C>G (p.Gly237=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567402C>T | CA518857666 | ZIC3 | c.711C>T (p.Gly237=) | |
| X | g.137567403G>A | CA414770515 | ZIC3 | c.712G>A (p.Ala238Thr) | |
| X | g.137567403G>C | CA414770516 | ZIC3 | c.712G>C (p.Ala238Pro) | |
| X | g.137567403G>T | CA414770517 | ZIC3 | c.712G>T (p.Ala238Ser) | gnomAD v4 |
| X | g.137567404C>A | CA414770518 | ZIC3 | c.713C>A (p.Ala238Asp) | |
| X | g.137567404C>G | CA414770519 | ZIC3 | c.713C>G (p.Ala238Gly) | |
| X | g.137567404C>T | CA414770520 | ZIC3 | c.713C>T (p.Ala238Val) | COSMIC COSMIC |
| X | g.137567405C>A | CA518857669 | ZIC3 | c.714C>A (p.Ala238=) | |
| X | g.137567405C>G | CA518857670 | ZIC3 | c.714C>G (p.Ala238=) | |
| X | g.137567405C>T | CA518857671 | ZIC3 | c.714C>T (p.Ala238=) | |
| X | g.137567406T>A | CA414770521 | ZIC3 | c.715T>A (p.Phe239Ile) | |
| X | g.137567406T>C | CA414770522 | ZIC3 | c.715T>C (p.Phe239Leu) | |
| X | g.137567406T>G | CA414770523 | ZIC3 | c.715T>G (p.Phe239Val) | |
| X | g.137567407T>A | CA414770526 | ZIC3 | c.716T>A (p.Phe239Tyr) | |
| X | g.137567407T>C | CA414770525 | ZIC3 | c.716T>C (p.Phe239Ser) | |
| X | g.137567407T>G | CA414770524 | ZIC3 | c.716T>G (p.Phe239Cys) | |
| X | g.137567408C>A | CA414770527 | ZIC3 | c.717C>A (p.Phe239Leu) | |
| X | g.137567408C= | CA2460728137 | ZIC3 | c.717C= (p.Phe239=) | |
| X | g.137567408C>G | CA414770528 | ZIC3 | c.717C>G (p.Phe239Leu) | |
| X | g.137567408C>T | CA518857673 | ZIC3 | c.717C>T (p.Phe239=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.137567409T>A | CA414770529 | ZIC3 | c.718T>A (p.Phe240Ile) | |
| X | g.137567409T>C | CA414770530 | ZIC3 | c.718T>C (p.Phe240Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567409T>G | CA414770531 | ZIC3 | c.718T>G (p.Phe240Val) | |
| X | g.137567409T= | CA2460728138 | ZIC3 | c.718T= (p.Phe240=) | |
| X | g.137567410T>A | CA414770532 | ZIC3 | c.719T>A (p.Phe240Tyr) | |
| X | g.137567410T>C | CA414770533 | ZIC3 | c.719T>C (p.Phe240Ser) | gnomAD v4 |
| X | g.137567410T>G | CA414770534 | ZIC3 | c.719T>G (p.Phe240Cys) | |
| X | g.137567411C>A | CA414770535 | ZIC3 | c.720C>A (p.Phe240Leu) | |
| X | g.137567411C>G | CA414770536 | ZIC3 | c.720C>G (p.Phe240Leu) | |
| X | g.137567411C>T | CA518857674 | ZIC3 | c.720C>T (p.Phe240=) | |
| X | g.137567412C>A | CA414770537 | ZIC3 | c.721C>A (p.Arg241Ser) | |
| X | g.137567412C>G | CA414770538 | ZIC3 | c.721C>G (p.Arg241Gly) | |
| X | g.137567412C>T | CA414770539 | ZIC3 | c.721C>T (p.Arg241Cys) | |
| X | g.137567413G>A | CA414770541 | ZIC3 | c.722G>A (p.Arg241His) | gnomAD v4 |
| X | g.137567413G>C | CA414770542 | ZIC3 | c.722G>C (p.Arg241Pro) | |
| X | g.137567413G>T | CA414770540 | ZIC3 | c.722G>T (p.Arg241Leu) | |
| X | g.137567414T>A | CA518857678 | ZIC3 | c.723T>A (p.Arg241=) | |
| X | g.137567414T>C | CA518857680 | ZIC3 | c.723T>C (p.Arg241=) | |
| X | g.137567414T>G | CA518857679 | ZIC3 | c.723T>G (p.Arg241=) | |
| X | g.137567415T>A | CA414770543 | ZIC3 | c.724T>A (p.Tyr242Asn) | |
| X | g.137567415T>C | CA414770544 | ZIC3 | c.724T>C (p.Tyr242His) | |
| X | g.137567415T>G | CA414770545 | ZIC3 | c.724T>G (p.Tyr242Asp) | |
| X | g.137567418_137567431del | CA2580101581 | ZIC3 | c.727_740del (p.Met243GlnfsTer30) | ClinVar |
| X | g.137567416A>C | CA414770546 | ZIC3 | c.725A>C (p.Tyr242Ser) | |
| X | g.137567416A>G | CA414770547 | ZIC3 | c.725A>G (p.Tyr242Cys) | |
| X | g.137567416A>T | CA414770548 | ZIC3 | c.725A>T (p.Tyr242Phe) | |
| X | g.137567417T>A | CA414770549 | ZIC3 | c.726T>A (p.Tyr242Ter) | |
| X | g.137567417T>C | CA336368849 | ZIC3 | c.726T>C (p.Tyr242=) | dbSNP |
| X | g.137567417T>G | CA414770550 | ZIC3 | c.726T>G (p.Tyr242Ter) | |
| X | g.137567417T= | CA2460728139 | ZIC3 | c.726T= (p.Tyr242=) | |
| X | g.137567418A>C | CA414770551 | ZIC3 | c.727A>C (p.Met243Leu) | |
| X | g.137567418A>G | CA414770552 | ZIC3 | c.727A>G (p.Met243Val) | gnomAD v3 gnomAD v4 |
| X | g.137567418A>T | CA414770553 | ZIC3 | c.727A>T (p.Met243Leu) | |
| X | g.137567419T>A | CA414770556 | ZIC3 | c.728T>A (p.Met243Lys) | gnomAD v4 |
| X | g.137567419T>C | CA414770554 | ZIC3 | c.728T>C (p.Met243Thr) | |
| X | g.137567419T>G | CA414770555 | ZIC3 | c.728T>G (p.Met243Arg) | |
| X | g.137567420G>A | CA414770557 | ZIC3 | c.729G>A (p.Met243Ile) | |
| X | g.137567420G>C | CA414770558 | ZIC3 | c.729G>C (p.Met243Ile) | |
| X | g.137567420G>T | CA414770559 | ZIC3 | c.729G>T (p.Met243Ile) | |
| X | g.137567421C>A | CA518857684 | ZIC3 | c.730C>A (p.Arg244=) | gnomAD v4 |
| X | g.137567421C>G | CA414770560 | ZIC3 | c.730C>G (p.Arg244Gly) | |
| X | g.137567421C>T | CA414770561 | ZIC3 | c.730C>T (p.Arg244Trp) | COSMIC |
| X | g.137567422G>A | CA414770562 | ZIC3 | c.731G>A (p.Arg244Gln) | dbSNP |
| X | g.137567422G>C | CA414770563 | ZIC3 | c.731G>C (p.Arg244Pro) | |
| X | g.137567422G= | CA2460728140 | ZIC3 | c.731G= (p.Arg244=) | |
| X | g.137567422G>T | CA414770564 | ZIC3 | c.731G>T (p.Arg244Leu) | |
| X | g.137567423G>A | CA518857685 | ZIC3 | c.732G>A (p.Arg244=) | gnomAD v3 gnomAD v4 |
| X | g.137567423G>C | CA518857686 | ZIC3 | c.732G>C (p.Arg244=) | |
| X | g.137567423G>T | CA518857687 | ZIC3 | c.732G>T (p.Arg244=) | |
| X | g.137567424C>A | CA414770565 | ZIC3 | c.733C>A (p.Gln245Lys) | |
| X | g.137567424C>G | CA414770566 | ZIC3 | c.733C>G (p.Gln245Glu) | |
| X | g.137567424C>T | CA414770567 | ZIC3 | c.733C>T (p.Gln245Ter) | |
| X | g.137567425A>C | CA414770570 | ZIC3 | c.734A>C (p.Gln245Pro) | |
| X | g.137567425A>G | CA414770569 | ZIC3 | c.734A>G (p.Gln245Arg) | |
| X | g.137567425A>T | CA414770568 | ZIC3 | c.734A>T (p.Gln245Leu) | |
| X | g.137567426G>A | CA518857688 | ZIC3 | c.735G>A (p.Gln245=) | |
| X | g.137567426G>C | CA414770571 | ZIC3 | c.735G>C (p.Gln245His) | |
| X | g.137567426G>T | CA414770572 | ZIC3 | c.735G>T (p.Gln245His) | |
| X | g.137567427C>A | CA414770573 | ZIC3 | c.736C>A (p.Pro246Thr) | |
| X | g.137567427C= | CA2460728141 | ZIC3 | c.736C= (p.Pro246=) | |
| X | g.137567427C>G | CA336368851 | ZIC3 | c.736C>G (p.Pro246Ala) | dbSNP |
| X | g.137567427C>T | CA414770574 | ZIC3 | c.736C>T (p.Pro246Ser) | |
| X | g.137567428C>A | CA414770575 | ZIC3 | c.737C>A (p.Pro246His) | |
| X | g.137567428C>G | CA414770576 | ZIC3 | c.737C>G (p.Pro246Arg) | |
| X | g.137567428C>T | CA414770577 | ZIC3 | c.737C>T (p.Pro246Leu) | |
| X | g.137567429T>A | CA518857692 | ZIC3 | c.738T>A (p.Pro246=) | |
| X | g.137567429T>C | CA518857694 | ZIC3 | c.738T>C (p.Pro246=) | |
| X | g.137567429T>G | CA518857693 | ZIC3 | c.738T>G (p.Pro246=) | |
| X | g.137567430A= | CA2460728142 | ZIC3 | c.739A= (p.Ile247=) | |
| X | g.137567430A>C | CA414770578 | ZIC3 | c.739A>C (p.Ile247Leu) | |
| X | g.137567430A>G | CA10529323 | ZIC3 | c.739A>G (p.Ile247Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567430A>T | CA414770579 | ZIC3 | c.739A>T (p.Ile247Phe) | COSMIC COSMIC |
| X | g.137567431T>A | CA414770580 | ZIC3 | c.740T>A (p.Ile247Asn) | |
| X | g.137567431T>C | CA414770581 | ZIC3 | c.740T>C (p.Ile247Thr) | |
| X | g.137567431T>G | CA414770582 | ZIC3 | c.740T>G (p.Ile247Ser) | |
| X | g.137567432C>A | CA518857695 | ZIC3 | c.741C>A (p.Ile247=) | |
| X | g.137567432C>G | CA414770583 | ZIC3 | c.741C>G (p.Ile247Met) | COSMIC COSMIC |
| X | g.137567432C>T | CA518857697 | ZIC3 | c.741C>T (p.Ile247=) | |
| X | g.137567433A>C | CA414770584 | ZIC3 | c.742A>C (p.Lys248Gln) | |
| X | g.137567433A>G | CA414770586 | ZIC3 | c.742A>G (p.Lys248Glu) | |
| X | g.137567433A>T | CA414770585 | ZIC3 | c.742A>T (p.Lys248Ter) | |
| X | g.137567434A>C | CA414770587 | ZIC3 | c.743A>C (p.Lys248Thr) | |
| X | g.137567434A>G | CA414770588 | ZIC3 | c.743A>G (p.Lys248Arg) | |
| X | g.137567434A>T | CA414770589 | ZIC3 | c.743A>T (p.Lys248Met) | |
| X | g.137567435G>A | CA518857699 | ZIC3 | c.744G>A (p.Lys248=) | |
| X | g.137567435G>C | CA414770590 | ZIC3 | c.744G>C (p.Lys248Asn) | |
| X | g.137567435G>T | CA414770591 | ZIC3 | c.744G>T (p.Lys248Asn) | |
| X | g.137567436C>A | CA414770592 | ZIC3 | c.745C>A (p.Gln249Lys) | |
| X | g.137567436C= | CA2460728143 | ZIC3 | c.745C= (p.Gln249=) | |
| X | g.137567436C>G | CA414770593 | ZIC3 | c.745C>G (p.Gln249Glu) | |
| X | g.137567436C>T | CA281605 | ZIC3 | c.745C>T (p.Gln249Ter) | ClinVar dbSNP |
| X | g.137567437A= | CA2460728144 | ZIC3 | c.746A= (p.Gln249=) | |
| X | g.137567437A>C | CA414770594 | ZIC3 | c.746A>C (p.Gln249Pro) | |
| X | g.137567437A>G | CA414770595 | ZIC3 | c.746A>G (p.Gln249Arg) | |
| X | g.137567437A>T | CA414770596 | ZIC3 | c.746A>T (p.Gln249Leu) | dbSNP |
| X | g.137567438G>A | CA518857702 | ZIC3 | c.747G>A (p.Gln249=) | |
| X | g.137567438G>C | CA414770598 | ZIC3 | c.747G>C (p.Gln249His) | |
| X | g.137567438G>T | CA414770597 | ZIC3 | c.747G>T (p.Gln249His) | |
| X | g.137567439G>A | CA414770599 | ZIC3 | c.748G>A (p.Glu250Lys) | |
| X | g.137567439G>C | CA414770600 | ZIC3 | c.748G>C (p.Glu250Gln) | |
| X | g.137567439G>T | CA414770601 | ZIC3 | c.748G>T (p.Glu250Ter) | |
| X | g.137567440A>C | CA414770602 | ZIC3 | c.749A>C (p.Glu250Ala) | |
| X | g.137567440A>G | CA414770603 | ZIC3 | c.749A>G (p.Glu250Gly) | |
| X | g.137567440A>T | CA414770604 | ZIC3 | c.749A>T (p.Glu250Val) | |
| X | g.137567441G>A | CA518857718 | ZIC3 | c.750G>A (p.Glu250=) | |
| X | g.137567441G>C | CA414770606 | ZIC3 | c.750G>C (p.Glu250Asp) | |
| X | g.137567441G>T | CA414770605 | ZIC3 | c.750G>T (p.Glu250Asp) | |
| X | g.137567442C>A | CA414770607 | ZIC3 | c.751C>A (p.Leu251Met) | |
| X | g.137567442C= | CA2460728145 | ZIC3 | c.751C= (p.Leu251=) | |
| X | g.137567442C>G | CA414770608 | ZIC3 | c.751C>G (p.Leu251Val) | |
| X | g.137567442C>T | CA10529324 | ZIC3 | c.751C>T (p.Leu251=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567443T>A | CA414770609 | ZIC3 | c.752T>A (p.Leu251Gln) | |
| X | g.137567443T>C | CA414770610 | ZIC3 | c.752T>C (p.Leu251Pro) | |
| X | g.137567443T>G | CA414770611 | ZIC3 | c.752T>G (p.Leu251Arg) | |
| X | g.137567444G>A | CA518857724 | ZIC3 | c.753G>A (p.Leu251=) | |
| X | g.137567444G>C | CA518857722 | ZIC3 | c.753G>C (p.Leu251=) | |
| X | g.137567444G>T | CA518857723 | ZIC3 | c.753G>T (p.Leu251=) | |
| X | g.137567445T>A | CA414770612 | ZIC3 | c.754T>A (p.Ser252Thr) | |
| X | g.137567445T>C | CA414770614 | ZIC3 | c.754T>C (p.Ser252Pro) | |
| X | g.137567445T>G | CA414770613 | ZIC3 | c.754T>G (p.Ser252Ala) | |
| X | g.137567446C>A | CA414770615 | ZIC3 | c.755C>A (p.Ser252Ter) | ClinVar dbSNP |
| X | g.137567446C= | CA2460728146 | ZIC3 | c.755C= (p.Ser252=) | |
| X | g.137567446C>G | CA414770616 | ZIC3 | c.755C>G (p.Ser252Trp) | gnomAD v4 |
| X | g.137567446C>T | CA414770617 | ZIC3 | c.755C>T (p.Ser252Leu) | dbSNP gnomAD v2 COSMIC |
| X | g.137567447G>A | CA518857725 | ZIC3 | c.756G>A (p.Ser252=) | gnomAD v4 COSMIC COSMIC |
| X | g.137567447G>C | CA518857727 | ZIC3 | c.756G>C (p.Ser252=) | gnomAD v4 |
| X | g.137567447G>T | CA518857729 | ZIC3 | c.756G>T (p.Ser252=) | |
| X | g.137567448T>A | CA336368855 | ZIC3 | c.757T>A (p.Cys253Ser) | ClinVar dbSNP |
| X | g.137567448T>C | CA414770618 | ZIC3 | c.757T>C (p.Cys253Arg) | COSMIC COSMIC |
| X | g.137567448T>G | CA414770619 | ZIC3 | c.757T>G (p.Cys253Gly) | |
| X | g.137567448T= | CA2460728147 | ZIC3 | c.757T= (p.Cys253=) | |
| X | g.137567449G>A | CA414770620 | ZIC3 | c.758G>A (p.Cys253Tyr) | |
| X | g.137567449G>C | CA281607 | ZIC3 | c.758G>C (p.Cys253Ser) | ClinVar dbSNP |
| X | g.137567449G= | CA2460728148 | ZIC3 | c.758G= (p.Cys253=) | |
| X | g.137567449G>T | CA414770621 | ZIC3 | c.758G>T (p.Cys253Phe) | |
| X | g.137567450C>A | CA414770622 | ZIC3 | c.759C>A (p.Cys253Ter) | |
| X | g.137567450C>G | CA414770623 | ZIC3 | c.759C>G (p.Cys253Trp) | |
| X | g.137567450C>T | CA518857731 | ZIC3 | c.759C>T (p.Cys253=) | |
| X | g.137567451A>C | CA414770624 | ZIC3 | c.760A>C (p.Lys254Gln) | |
| X | g.137567451A>G | CA414770626 | ZIC3 | c.760A>G (p.Lys254Glu) | |
| X | g.137567451A>T | CA414770625 | ZIC3 | c.760A>T (p.Lys254Ter) | |
| X | g.137567452A>C | CA414770627 | ZIC3 | c.761A>C (p.Lys254Thr) | |
| X | g.137567452A>G | CA414770629 | ZIC3 | c.761A>G (p.Lys254Arg) | |
| X | g.137567452A>T | CA414770628 | ZIC3 | c.761A>T (p.Lys254Met) | |
| X | g.137567453G>A | CA518857734 | ZIC3 | c.762G>A (p.Lys254=) | |
| X | g.137567453G>C | CA414770630 | ZIC3 | c.762G>C (p.Lys254Asn) | |
| X | g.137567453G>T | CA414770631 | ZIC3 | c.762G>T (p.Lys254Asn) | |
| X | g.137567454T>A | CA414770632 | ZIC3 | c.763T>A (p.Trp255Arg) | |
| X | g.137567454T>C | CA414770633 | ZIC3 | c.763T>C (p.Trp255Arg) | |
| X | g.137567454T>G | CA281609 | ZIC3 | c.763T>G (p.Trp255Gly) | ClinVar dbSNP |
| X | g.137567454T= | CA2460728149 | ZIC3 | c.763T= (p.Trp255=) |