Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.137566973_137566981dup | CA2694828742 | ZIC3 | c.282_290dup (p.His97_Thr98insHisHisHis) | gnomAD v4 |
X | g.137566973_137566981del | CA2694828743 | ZIC3 | c.282_290del (p.His95_His97del) | gnomAD v4 |
X | g.137566976T>A | CA414769590 | ZIC3 | c.285T>A (p.His95Gln) | |
X | g.137566976T>C | CA518857353 | ZIC3 | c.285T>C (p.His95=) | gnomAD v3 gnomAD v4 |
X | g.137566976T>G | CA414769591 | ZIC3 | c.285T>G (p.His95Gln) | |
X | g.137566977C>A | CA414769592 | ZIC3 | c.286C>A (p.His96Asn) | |
X | g.137566977C>G | CA414769593 | ZIC3 | c.286C>G (p.His96Asp) | |
X | g.137566977C>T | CA414769594 | ZIC3 | c.286C>T (p.His96Tyr) | |
X | g.137566982_137566986del | CA2695237709 | ZIC3 | c.291_295del (p.His97GlnfsTer?) | |
X | g.137566978A>C | CA414769595 | ZIC3 | c.287A>C (p.His96Pro) | |
X | g.137566978A>G | CA414769596 | ZIC3 | c.287A>G (p.His96Arg) | gnomAD v4 |
X | g.137566978A>T | CA414769597 | ZIC3 | c.287A>T (p.His96Leu) | |
X | g.137566979C>A | CA414769598 | ZIC3 | c.288C>A (p.His96Gln) | gnomAD v4 |
X | g.137566979C= | CA2460727987 | ZIC3 | c.288C= (p.His96=) | |
X | g.137566979C>G | CA414769599 | ZIC3 | c.288C>G (p.His96Gln) | |
X | g.137566979C>T | CA10529283 | ZIC3 | c.288C>T (p.His96=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.137566980C>A | CA414769601 | ZIC3 | c.289C>A (p.His97Asn) | |
X | g.137566980C>G | CA414769602 | ZIC3 | c.289C>G (p.His97Asp) | |
X | g.137566980C>T | CA414769600 | ZIC3 | c.289C>T (p.His97Tyr) | |
X | g.137566981A>C | CA414769603 | ZIC3 | c.290A>C (p.His97Pro) | |
X | g.137566981A>G | CA414769604 | ZIC3 | c.290A>G (p.His97Arg) | |
X | g.137566981A>T | CA414769605 | ZIC3 | c.290A>T (p.His97Leu) | |
X | g.137566982C>A | CA414769606 | ZIC3 | c.291C>A (p.His97Gln) | |
X | g.137566982C>G | CA414769607 | ZIC3 | c.291C>G (p.His97Gln) | |
X | g.137566982C>T | CA518857374 | ZIC3 | c.291C>T (p.His97=) | gnomAD v4 |
X | g.137566983A= | CA2460727988 | ZIC3 | c.292A= (p.Thr98=) | |
X | g.137566983A>C | CA414769610 | ZIC3 | c.292A>C (p.Thr98Pro) | |
X | g.137566983A>G | CA414769609 | ZIC3 | c.292A>G (p.Thr98Ala) | |
X | g.137566983A>T | CA414769608 | ZIC3 | c.292A>T (p.Thr98Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.137566984C>A | CA414769611 | ZIC3 | c.293C>A (p.Thr98Asn) | |
X | g.137566984C>G | CA414769612 | ZIC3 | c.293C>G (p.Thr98Ser) | |
X | g.137566984C>T | CA414769613 | ZIC3 | c.293C>T (p.Thr98Ile) | |
X | g.137566985C>A | CA518857387 | ZIC3 | c.294C>A (p.Thr98=) | |
X | g.137566985C>G | CA518857386 | ZIC3 | c.294C>G (p.Thr98=) | |
X | g.137566985C>T | CA518857385 | ZIC3 | c.294C>T (p.Thr98=) | |
X | g.137566986A>C | CA414769614 | ZIC3 | c.295A>C (p.Ser99Arg) | |
X | g.137566986A>G | CA414769615 | ZIC3 | c.295A>G (p.Ser99Gly) | |
X | g.137566986A>T | CA414769616 | ZIC3 | c.295A>T (p.Ser99Cys) | gnomAD v4 |
X | g.137566987G>A | CA414769619 | ZIC3 | c.296G>A (p.Ser99Asn) | |
X | g.137566987G>C | CA414769617 | ZIC3 | c.296G>C (p.Ser99Thr) | |
X | g.137566987G>T | CA414769618 | ZIC3 | c.296G>T (p.Ser99Ile) | gnomAD v4 |
X | g.137566988C>A | CA414769620 | ZIC3 | c.297C>A (p.Ser99Arg) | gnomAD v4 |
X | g.137566988C>G | CA414769621 | ZIC3 | c.297C>G (p.Ser99Arg) | |
X | g.137566988C>T | CA518857398 | ZIC3 | c.297C>T (p.Ser99=) | gnomAD v4 |
X | g.137566989C>A | CA414769622 | ZIC3 | c.298C>A (p.Gln100Lys) | |
X | g.137566989C>G | CA414769623 | ZIC3 | c.298C>G (p.Gln100Glu) | |
X | g.137566989C>T | CA414769624 | ZIC3 | c.298C>T (p.Gln100Ter) | dbSNP gnomAD v3 gnomAD v4 |
X | g.137566990A= | CA2460727989 | ZIC3 | c.299A= (p.Gln100=) | |
X | g.137566990A>C | CA414769625 | ZIC3 | c.299A>C (p.Gln100Pro) | |
X | g.137566990A>G | CA414769626 | ZIC3 | c.299A>G (p.Gln100Arg) | |
X | g.137566990A>T | CA336368785 | ZIC3 | c.299A>T (p.Gln100Leu) | dbSNP |
X | g.137566991G>A | CA518857405 | ZIC3 | c.300G>A (p.Gln100=) | |
X | g.137566991G>C | CA414769627 | ZIC3 | c.300G>C (p.Gln100His) | |
X | g.137566991G>T | CA414769628 | ZIC3 | c.300G>T (p.Gln100His) | gnomAD v4 |
X | g.137566992G>A | CA414769629 | ZIC3 | c.301G>A (p.Val101Met) | |
X | g.137566992G>C | CA414769630 | ZIC3 | c.301G>C (p.Val101Leu) | |
X | g.137566992G>T | CA414769631 | ZIC3 | c.301G>T (p.Val101Leu) | gnomAD v4 |
X | g.137566993T>A | CA414769632 | ZIC3 | c.302T>A (p.Val101Glu) | dbSNP gnomAD v2 |
X | g.137566993T>C | CA414769634 | ZIC3 | c.302T>C (p.Val101Ala) | |
X | g.137566993T>G | CA414769633 | ZIC3 | c.302T>G (p.Val101Gly) | |
X | g.137566993T= | CA2460727990 | ZIC3 | c.302T= (p.Val101=) | |
X | g.137566994G>A | CA518857413 | ZIC3 | c.303G>A (p.Val101=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.137566994G>C | CA518857415 | ZIC3 | c.303G>C (p.Val101=) | |
X | g.137566994G= | CA2460727991 | ZIC3 | c.303G= (p.Val101=) | |
X | g.137566994G>T | CA518857416 | ZIC3 | c.303G>T (p.Val101=) | gnomAD v4 |
X | g.137566995C>A | CA414769635 | ZIC3 | c.304C>A (p.Pro102Thr) | |
X | g.137566995C= | CA2460727993 | ZIC3 | c.304C= (p.Pro102=) | |
X | g.137566995C>G | CA414769636 | ZIC3 | c.304C>G (p.Pro102Ala) | ClinVar dbSNP gnomAD v4 |
X | g.137566995C>T | CA414769637 | ZIC3 | c.304C>T (p.Pro102Ser) | gnomAD v4 |
X | g.137566997dup | CA2460727992 | ZIC3 | c.306dup (p.Ser103GlnfsTer27) | dbSNP |
X | g.137566996C>A | CA414769638 | ZIC3 | c.305C>A (p.Pro102His) | |
X | g.137566996C= | CA2460727994 | ZIC3 | c.305C= (p.Pro102=) | |
X | g.137566996C>G | CA414769639 | ZIC3 | c.305C>G (p.Pro102Arg) | dbSNP gnomAD v4 |
X | g.137566996C>T | CA10529284 | ZIC3 | c.305C>T (p.Pro102Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.137566997C>A | CA518857426 | ZIC3 | c.306C>A (p.Pro102=) | gnomAD v4 |
X | g.137566997C>G | CA518857424 | ZIC3 | c.306C>G (p.Pro102=) | |
X | g.137566997C>T | CA518857422 | ZIC3 | c.306C>T (p.Pro102=) | gnomAD v4 |
X | g.137566998A>C | CA414769642 | ZIC3 | c.307A>C (p.Ser103Arg) | |
X | g.137566998A>G | CA414769640 | ZIC3 | c.307A>G (p.Ser103Gly) | gnomAD v4 |
X | g.137566998A>T | CA414769641 | ZIC3 | c.307A>T (p.Ser103Cys) | |
X | g.137566999G>A | CA10529285 | ZIC3 | c.308G>A (p.Ser103Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.137566999G>C | CA414769643 | ZIC3 | c.308G>C (p.Ser103Thr) | gnomAD v4 |
X | g.137566999G= | CA2460727995 | ZIC3 | c.308G= (p.Ser103=) | |
X | g.137566999G>T | CA414769644 | ZIC3 | c.308G>T (p.Ser103Ile) | |
X | g.137567000C>A | CA414769645 | ZIC3 | c.309C>A (p.Ser103Arg) | |
X | g.137567000C>G | CA414769646 | ZIC3 | c.309C>G (p.Ser103Arg) | gnomAD v4 |
X | g.137567000C>T | CA518857433 | ZIC3 | c.309C>T (p.Ser103=) | |
X | g.137567001T>A | CA414769647 | ZIC3 | c.310T>A (p.Tyr104Asn) | |
X | g.137567001T>C | CA414769649 | ZIC3 | c.310T>C (p.Tyr104His) | |
X | g.137567001T>G | CA414769648 | ZIC3 | c.310T>G (p.Tyr104Asp) | |
X | g.137567002A>C | CA414769650 | ZIC3 | c.311A>C (p.Tyr104Ser) | |
X | g.137567002A>G | CA414769651 | ZIC3 | c.311A>G (p.Tyr104Cys) | |
X | g.137567002A>T | CA414769652 | ZIC3 | c.311A>T (p.Tyr104Phe) | |
X | g.137567003C>A | CA414769653 | ZIC3 | c.312C>A (p.Tyr104Ter) | |
X | g.137567003C= | CA2460727996 | ZIC3 | c.312C= (p.Tyr104=) | |
X | g.137567003C>G | CA414769654 | ZIC3 | c.312C>G (p.Tyr104Ter) | |
X | g.137567003C>T | CA336368789 | ZIC3 | c.312C>T (p.Tyr104=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.137567004G>A | CA414769655 | ZIC3 | c.313G>A (p.Gly105Ser) | |
X | g.137567004G>C | CA414769656 | ZIC3 | c.313G>C (p.Gly105Arg) | |
X | g.137567004G>T | CA414769657 | ZIC3 | c.313G>T (p.Gly105Cys) | |
X | g.137567005G>A | CA414769658 | ZIC3 | c.314G>A (p.Gly105Asp) | |
X | g.137567005G>C | CA414769659 | ZIC3 | c.314G>C (p.Gly105Ala) | |
X | g.137567005G>T | CA414769660 | ZIC3 | c.314G>T (p.Gly105Val) | gnomAD v4 |
X | g.137567006T>A | CA518857443 | ZIC3 | c.315T>A (p.Gly105=) | |
X | g.137567006T>C | CA518857444 | ZIC3 | c.315T>C (p.Gly105=) | |
X | g.137567006T>G | CA518857445 | ZIC3 | c.315T>G (p.Gly105=) | |
X | g.137567007G>A | CA414769661 | ZIC3 | c.316G>A (p.Gly106Ser) | |
X | g.137567007G>C | CA414769663 | ZIC3 | c.316G>C (p.Gly106Arg) | |
X | g.137567007G>T | CA414769662 | ZIC3 | c.316G>T (p.Gly106Cys) | |
X | g.137567008G>A | CA414769664 | ZIC3 | c.317G>A (p.Gly106Asp) | |
X | g.137567008G>C | CA414769666 | ZIC3 | c.317G>C (p.Gly106Ala) | |
X | g.137567008G>T | CA414769665 | ZIC3 | c.317G>T (p.Gly106Val) | |
X | g.137567009C>A | CA518857454 | ZIC3 | c.318C>A (p.Gly106=) | |
X | g.137567009C>G | CA518857455 | ZIC3 | c.318C>G (p.Gly106=) | |
X | g.137567009C>T | CA518857456 | ZIC3 | c.318C>T (p.Gly106=) | |
X | g.137567010G>A | CA10529286 | ZIC3 | c.319G>A (p.Ala107Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.137567010G>C | CA414769668 | ZIC3 | c.319G>C (p.Ala107Pro) | |
X | g.137567010G= | CA2460727997 | ZIC3 | c.319G= (p.Ala107=) | |
X | g.137567010G>T | CA414769667 | ZIC3 | c.319G>T (p.Ala107Ser) | |
X | g.137567011C>A | CA414769669 | ZIC3 | c.320C>A (p.Ala107Asp) | gnomAD v4 |
X | g.137567011C>G | CA414769670 | ZIC3 | c.320C>G (p.Ala107Gly) | |
X | g.137567011C>T | CA414769671 | ZIC3 | c.320C>T (p.Ala107Val) | gnomAD v4 |
X | g.137567012T>A | CA518857463 | ZIC3 | c.321T>A (p.Ala107=) | |
X | g.137567012T>C | CA518857464 | ZIC3 | c.321T>C (p.Ala107=) | |
X | g.137567012T>G | CA518857466 | ZIC3 | c.321T>G (p.Ala107=) | |
X | g.137567013G>A | CA414769672 | ZIC3 | c.322G>A (p.Ala108Thr) | |
X | g.137567013G>C | CA414769673 | ZIC3 | c.322G>C (p.Ala108Pro) | |
X | g.137567013G>T | CA414769674 | ZIC3 | c.322G>T (p.Ala108Ser) | |
X | g.137567014C>A | CA414769677 | ZIC3 | c.323C>A (p.Ala108Asp) | |
X | g.137567014C>G | CA414769676 | ZIC3 | c.323C>G (p.Ala108Gly) | |
X | g.137567014C>T | CA414769675 | ZIC3 | c.323C>T (p.Ala108Val) | |
X | g.137567015C>A | CA518857471 | ZIC3 | c.324C>A (p.Ala108=) | |
X | g.137567015C= | CA2460727998 | ZIC3 | c.324C= (p.Ala108=) | |
X | g.137567015C>G | CA518857474 | ZIC3 | c.324C>G (p.Ala108=) | |
X | g.137567015C>T | CA518857475 | ZIC3 | c.324C>T (p.Ala108=) | dbSNP |
X | g.137567016T>A | CA414769678 | ZIC3 | c.325T>A (p.Ser109Thr) | |
X | g.137567016T>C | CA414769679 | ZIC3 | c.325T>C (p.Ser109Pro) | |
X | g.137567016T>G | CA414769680 | ZIC3 | c.325T>G (p.Ser109Ala) | dbSNP |
X | g.137567017C>A | CA414769681 | ZIC3 | c.326C>A (p.Ser109Tyr) | |
X | g.137567017C= | CA2460727999 | ZIC3 | c.326C= (p.Ser109=) | |
X | g.137567017C>G | CA10529287 | ZIC3 | c.326C>G (p.Ser109Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.137567017C>T | CA414769682 | ZIC3 | c.326C>T (p.Ser109Phe) | |
X | g.137567018T>A | CA518857477 | ZIC3 | c.327T>A (p.Ser109=) | |
X | g.137567018T>C | CA518857481 | ZIC3 | c.327T>C (p.Ser109=) | |
X | g.137567018T>G | CA518857479 | ZIC3 | c.327T>G (p.Ser109=) | |
X | g.137567019G>A | CA414769683 | ZIC3 | c.328G>A (p.Ala110Thr) | dbSNP gnomAD v2 |
X | g.137567019G>C | CA414769685 | ZIC3 | c.328G>C (p.Ala110Pro) | |
X | g.137567019G= | CA2460728000 | ZIC3 | c.328G= (p.Ala110=) | |
X | g.137567019G>T | CA414769684 | ZIC3 | c.328G>T (p.Ala110Ser) | gnomAD v4 |
X | g.137567020C>A | CA414769686 | ZIC3 | c.329C>A (p.Ala110Asp) | |
X | g.137567020C= | CA2460728001 | ZIC3 | c.329C= (p.Ala110=) | |
X | g.137567020C>G | CA414769687 | ZIC3 | c.329C>G (p.Ala110Gly) | gnomAD v4 |
X | g.137567020C>T | CA414769688 | ZIC3 | c.329C>T (p.Ala110Val) | dbSNP |
X | g.137567021C>A | CA518857488 | ZIC3 | c.330C>A (p.Ala110=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.137567021C= | CA2460728002 | ZIC3 | c.330C= (p.Ala110=) | |
X | g.137567021C>G | CA518857490 | ZIC3 | c.330C>G (p.Ala110=) | |
X | g.137567021C>T | CA518857491 | ZIC3 | c.330C>T (p.Ala110=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.137567022G>A | CA414769689 | ZIC3 | c.331G>A (p.Ala111Thr) | |
X | g.137567022G>C | CA414769690 | ZIC3 | c.331G>C (p.Ala111Pro) | |
X | g.137567022G= | CA2460728003 | ZIC3 | c.331G= (p.Ala111=) | |
X | g.137567022G>T | CA414769691 | ZIC3 | c.331G>T (p.Ala111Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.137567023C>A | CA414769692 | ZIC3 | c.332C>A (p.Ala111Asp) | |
X | g.137567023C>G | CA414769693 | ZIC3 | c.332C>G (p.Ala111Gly) | |
X | g.137567023C>T | CA414769694 | ZIC3 | c.332C>T (p.Ala111Val) | |
X | g.137567024C>A | CA518857495 | ZIC3 | c.333C>A (p.Ala111=) | |
X | g.137567024C>G | CA518857497 | ZIC3 | c.333C>G (p.Ala111=) | |
X | g.137567024C>T | CA518857498 | ZIC3 | c.333C>T (p.Ala111=) | |
X | g.137567025T>A | CA414769695 | ZIC3 | c.334T>A (p.Phe112Ile) | |
X | g.137567025T>C | CA414769696 | ZIC3 | c.334T>C (p.Phe112Leu) | |
X | g.137567025T>G | CA414769697 | ZIC3 | c.334T>G (p.Phe112Val) | |
X | g.137567026T>A | CA414769700 | ZIC3 | c.335T>A (p.Phe112Tyr) | |
X | g.137567026T>C | CA414769698 | ZIC3 | c.335T>C (p.Phe112Ser) | |
X | g.137567026T>G | CA414769699 | ZIC3 | c.335T>G (p.Phe112Cys) | |
X | g.137567027C>A | CA414769701 | ZIC3 | c.336C>A (p.Phe112Leu) | |
X | g.137567027C= | CA2460728004 | ZIC3 | c.336C= (p.Phe112=) | |
X | g.137567027C>G | CA414769702 | ZIC3 | c.336C>G (p.Phe112Leu) | |
X | g.137567027C>T | CA518857507 | ZIC3 | c.336C>T (p.Phe112=) | dbSNP gnomAD v4 |
X | g.137567028A>C | CA414769703 | ZIC3 | c.337A>C (p.Asn113His) | |
X | g.137567028A>G | CA414769704 | ZIC3 | c.337A>G (p.Asn113Asp) | |
X | g.137567028A>T | CA414769705 | ZIC3 | c.337A>T (p.Asn113Tyr) | |
X | g.137567029A>C | CA414769706 | ZIC3 | c.338A>C (p.Asn113Thr) | |
X | g.137567029A>G | CA414769707 | ZIC3 | c.338A>G (p.Asn113Ser) | |
X | g.137567029A>T | CA414769708 | ZIC3 | c.338A>T (p.Asn113Ile) | |
X | g.137567030C>A | CA414769709 | ZIC3 | c.339C>A (p.Asn113Lys) | |
X | g.137567030C= | CA2460728005 | ZIC3 | c.339C= (p.Asn113=) | |
X | g.137567030C>G | CA414769710 | ZIC3 | c.339C>G (p.Asn113Lys) | |
X | g.137567030C>T | CA336368794 | ZIC3 | c.339C>T (p.Asn113=) | dbSNP |
X | g.137567031T>A | CA414769711 | ZIC3 | c.340T>A (p.Ser114Thr) | |
X | g.137567031T>C | CA414769712 | ZIC3 | c.340T>C (p.Ser114Pro) | ClinVar |
X | g.137567031T>G | CA414769713 | ZIC3 | c.340T>G (p.Ser114Ala) | |
X | g.137567032C>A | CA414769716 | ZIC3 | c.341C>A (p.Ser114Ter) | |
X | g.137567032C>G | CA414769714 | ZIC3 | c.341C>G (p.Ser114Ter) | |
X | g.137567032C>T | CA414769715 | ZIC3 | c.341C>T (p.Ser114Leu) | |
X | g.137567033A= | CA2460728006 | ZIC3 | c.342A= (p.Ser114=) | |
X | g.137567033A>C | CA518857521 | ZIC3 | c.342A>C (p.Ser114=) | dbSNP |
X | g.137567033A>G | CA518857523 | ZIC3 | c.342A>G (p.Ser114=) | |
X | g.137567033A>T | CA518857525 | ZIC3 | c.342A>T (p.Ser114=) | |
X | g.137567034A>C | CA414769717 | ZIC3 | c.343A>C (p.Thr115Pro) | |
X | g.137567034A>G | CA414769718 | ZIC3 | c.343A>G (p.Thr115Ala) | |
X | g.137567034A>T | CA414769719 | ZIC3 | c.343A>T (p.Thr115Ser) | |
X | g.137567035C>A | CA414769720 | ZIC3 | c.344C>A (p.Thr115Lys) | gnomAD v4 |
X | g.137567035C>G | CA414769721 | ZIC3 | c.344C>G (p.Thr115Arg) | |
X | g.137567035C>T | CA414769722 | ZIC3 | c.344C>T (p.Thr115Met) | gnomAD v4 |
X | g.137567036G>A | CA518857527 | ZIC3 | c.345G>A (p.Thr115=) | |
X | g.137567036G>C | CA518857528 | ZIC3 | c.345G>C (p.Thr115=) | |
X | g.137567036G= | CA2460728007 | ZIC3 | c.345G= (p.Thr115=) | |
X | g.137567036G>T | CA518857529 | ZIC3 | c.345G>T (p.Thr115=) | dbSNP |
X | g.137567037C>A | CA414769723 | ZIC3 | c.346C>A (p.Arg116Ser) | |
X | g.137567037C>G | CA414769724 | ZIC3 | c.346C>G (p.Arg116Gly) | |
X | g.137567037C>T | CA414769725 | ZIC3 | c.346C>T (p.Arg116Cys) | gnomAD v4 |
X | g.137567038G>A | CA414769726 | ZIC3 | c.347G>A (p.Arg116His) | dbSNP gnomAD v2 gnomAD v4 |
X | g.137567038G>C | CA414769727 | ZIC3 | c.347G>C (p.Arg116Pro) | |
X | g.137567038G= | CA2460728008 | ZIC3 | c.347G= (p.Arg116=) | |
X | g.137567038G>T | CA414769728 | ZIC3 | c.347G>T (p.Arg116Leu) | |
X | g.137567039C>A | CA518857537 | ZIC3 | c.348C>A (p.Arg116=) | |
X | g.137567039C>G | CA518857539 | ZIC3 | c.348C>G (p.Arg116=) | |
X | g.137567039C>T | CA518857538 | ZIC3 | c.348C>T (p.Arg116=) | gnomAD v4 |
X | g.137567040G>A | CA414769731 | ZIC3 | c.349G>A (p.Glu117Lys) | |
X | g.137567040G>C | CA414769729 | ZIC3 | c.349G>C (p.Glu117Gln) | |
X | g.137567040G>T | CA414769730 | ZIC3 | c.349G>T (p.Glu117Ter) | |
X | g.137567041A>C | CA414769732 | ZIC3 | c.350A>C (p.Glu117Ala) | |
X | g.137567041A>G | CA414769733 | ZIC3 | c.350A>G (p.Glu117Gly) | |
X | g.137567041A>T | CA414769734 | ZIC3 | c.350A>T (p.Glu117Val) | |
X | g.137567042G>A | CA518857543 | ZIC3 | c.351G>A (p.Glu117=) | |
X | g.137567042G>C | CA414769735 | ZIC3 | c.351G>C (p.Glu117Asp) | |
X | g.137567042G>T | CA414769736 | ZIC3 | c.351G>T (p.Glu117Asp) | |
X | g.137567043T>A | CA414769737 | ZIC3 | c.352T>A (p.Phe118Ile) | |
X | g.137567043T>C | CA336368796 | ZIC3 | c.352T>C (p.Phe118Leu) | dbSNP gnomAD v4 |
X | g.137567043T>G | CA414769738 | ZIC3 | c.352T>G (p.Phe118Val) | |
X | g.137567043T= | CA2460728009 | ZIC3 | c.352T= (p.Phe118=) | |
X | g.137567044T>A | CA414769739 | ZIC3 | c.353T>A (p.Phe118Tyr) | |
X | g.137567044T>C | CA414769741 | ZIC3 | c.353T>C (p.Phe118Ser) | |
X | g.137567044T>G | CA414769740 | ZIC3 | c.353T>G (p.Phe118Cys) | |
X | g.137567045T>A | CA414769742 | ZIC3 | c.354T>A (p.Phe118Leu) | |
X | g.137567045T>C | CA518857553 | ZIC3 | c.354T>C (p.Phe118=) | |
X | g.137567045T>G | CA414769743 | ZIC3 | c.354T>G (p.Phe118Leu) | |
X | g.137567046C>A | CA414769744 | ZIC3 | c.355C>A (p.Leu119Met) | |
X | g.137567046C>G | CA414769745 | ZIC3 | c.355C>G (p.Leu119Val) | |
X | g.137567046C>T | CA518857556 | ZIC3 | c.355C>T (p.Leu119=) | |
X | g.137567047T>A | CA414769746 | ZIC3 | c.356T>A (p.Leu119Gln) | |
X | g.137567047T>C | CA414769748 | ZIC3 | c.356T>C (p.Leu119Pro) | |
X | g.137567047T>G | CA414769747 | ZIC3 | c.356T>G (p.Leu119Arg) | |
X | g.137567048G>A | CA518857559 | ZIC3 | c.357G>A (p.Leu119=) | |
X | g.137567048G>C | CA518857560 | ZIC3 | c.357G>C (p.Leu119=) | gnomAD v4 |
X | g.137567048G>T | CA518857561 | ZIC3 | c.357G>T (p.Leu119=) | gnomAD v4 |
X | g.137567049T>A | CA414769749 | ZIC3 | c.358T>A (p.Phe120Ile) | |
X | g.137567049T>C | CA414769750 | ZIC3 | c.358T>C (p.Phe120Leu) | |
X | g.137567049T>G | CA414769751 | ZIC3 | c.358T>G (p.Phe120Val) | |
X | g.137567050T>A | CA414769752 | ZIC3 | c.359T>A (p.Phe120Tyr) | dbSNP |
X | g.137567050T>C | CA414769753 | ZIC3 | c.359T>C (p.Phe120Ser) | |
X | g.137567050T>G | CA414769754 | ZIC3 | c.359T>G (p.Phe120Cys) | |
X | g.137567051C>A | CA414769755 | ZIC3 | c.360C>A (p.Phe120Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.137567051C= | CA2460728010 | ZIC3 | c.360C= (p.Phe120=) | |
X | g.137567051C>G | CA414769756 | ZIC3 | c.360C>G (p.Phe120Leu) | |
X | g.137567051C>T | CA518857567 | ZIC3 | c.360C>T (p.Phe120=) | |
X | g.137567052C>A | CA414769757 | ZIC3 | c.361C>A (p.Arg121Ser) | |
X | g.137567052C>G | CA414769758 | ZIC3 | c.361C>G (p.Arg121Gly) | |
X | g.137567052C>T | CA414769759 | ZIC3 | c.361C>T (p.Arg121Cys) | |
X | g.137567053G>A | CA414769762 | ZIC3 | c.362G>A (p.Arg121His) | dbSNP gnomAD v2 gnomAD v4 |
X | g.137567053G>C | CA414769760 | ZIC3 | c.362G>C (p.Arg121Pro) | |
X | g.137567053G= | CA2460728011 | ZIC3 | c.362G= (p.Arg121=) | |
X | g.137567053G>T | CA414769761 | ZIC3 | c.362G>T (p.Arg121Leu) | |
X | g.137567054C>A | CA518857572 | ZIC3 | c.363C>A (p.Arg121=) | |
X | g.137567054C>G | CA518857573 | ZIC3 | c.363C>G (p.Arg121=) | |
X | g.137567054C>T | CA518857574 | ZIC3 | c.363C>T (p.Arg121=) | |
X | g.137567055C>A | CA414769763 | ZIC3 | c.364C>A (p.Gln122Lys) | gnomAD v4 |
X | g.137567055C>G | CA414769764 | ZIC3 | c.364C>G (p.Gln122Glu) | |
X | g.137567055C>T | CA414769765 | ZIC3 | c.364C>T (p.Gln122Ter) | |
X | g.137567056A>C | CA414769766 | ZIC3 | c.365A>C (p.Gln122Pro) | |
X | g.137567056A>G | CA414769767 | ZIC3 | c.365A>G (p.Gln122Arg) | |
X | g.137567056A>T | CA414769768 | ZIC3 | c.365A>T (p.Gln122Leu) | |
X | g.137567057G>A | CA336368798 | ZIC3 | c.366G>A (p.Gln122=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.137567057G>C | CA414769770 | ZIC3 | c.366G>C (p.Gln122His) | |
X | g.137567057G= | CA2460728012 | ZIC3 | c.366G= (p.Gln122=) | |
X | g.137567057G>T | CA414769769 | ZIC3 | c.366G>T (p.Gln122His) | |
X | g.137567058C>A | CA414769771 | ZIC3 | c.367C>A (p.Arg123Ser) | gnomAD v4 |
X | g.137567058C>G | CA414769772 | ZIC3 | c.367C>G (p.Arg123Gly) | |
X | g.137567058C>T | CA414769773 | ZIC3 | c.367C>T (p.Arg123Cys) | |
X | g.137567059G>A | CA10529288 | ZIC3 | c.368G>A (p.Arg123His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.137567059G>C | CA414769774 | ZIC3 | c.368G>C (p.Arg123Pro) | gnomAD v4 |
X | g.137567059G= | CA2460728013 | ZIC3 | c.368G= (p.Arg123=) | |
X | g.137567059G>T | CA414769775 | ZIC3 | c.368G>T (p.Arg123Leu) | gnomAD v4 |
X | g.137567060C>A | CA518857581 | ZIC3 | c.369C>A (p.Arg123=) | |
X | g.137567060C>G | CA518857582 | ZIC3 | c.369C>G (p.Arg123=) | |
X | g.137567060C>T | CA518857584 | ZIC3 | c.369C>T (p.Arg123=) | |
X | g.137567061A>C | CA414769776 | ZIC3 | c.370A>C (p.Ser124Arg) | |
X | g.137567061A>G | CA414769778 | ZIC3 | c.370A>G (p.Ser124Gly) | |
X | g.137567061A>T | CA414769777 | ZIC3 | c.370A>T (p.Ser124Cys) | |
X | g.137567062G>A | CA414769779 | ZIC3 | c.371G>A (p.Ser124Asn) | |
X | g.137567062G>C | CA414769780 | ZIC3 | c.371G>C (p.Ser124Thr) | dbSNP gnomAD v3 gnomAD v4 |
X | g.137567062G= | CA2460728014 | ZIC3 | c.371G= (p.Ser124=) | |
X | g.137567062G>T | CA414769781 | ZIC3 | c.371G>T (p.Ser124Ile) | COSMIC COSMIC |
X | g.137567063C>A | CA414769782 | ZIC3 | c.372C>A (p.Ser124Arg) | gnomAD v4 |
X | g.137567063C= | CA2460728015 | ZIC3 | c.372C= (p.Ser124=) | |
X | g.137567063C>G | CA414769783 | ZIC3 | c.372C>G (p.Ser124Arg) | |
X | g.137567063C>T | CA336368801 | ZIC3 | c.372C>T (p.Ser124=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.137567064T>A | CA414769784 | ZIC3 | c.373T>A (p.Ser125Thr) | |
X | g.137567064T>C | CA414769785 | ZIC3 | c.373T>C (p.Ser125Pro) | |
X | g.137567064T>G | CA414769786 | ZIC3 | c.373T>G (p.Ser125Ala) | |
X | g.137567065C>A | CA414769787 | ZIC3 | c.374C>A (p.Ser125Tyr) | |
X | g.137567065C>G | CA414769788 | ZIC3 | c.374C>G (p.Ser125Cys) | |
X | g.137567065C>T | CA414769789 | ZIC3 | c.374C>T (p.Ser125Phe) | |
X | g.137567066C>A | CA518857593 | ZIC3 | c.375C>A (p.Ser125=) | gnomAD v4 |
X | g.137567066C= | CA2460728016 | ZIC3 | c.375C= (p.Ser125=) | |
X | g.137567066C>G | CA518857594 | ZIC3 | c.375C>G (p.Ser125=) | |
X | g.137567066C>T | CA518857596 | ZIC3 | c.375C>T (p.Ser125=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.137567067G>A | CA414769790 | ZIC3 | c.376G>A (p.Gly126Arg) | gnomAD v4 |
X | g.137567067G>C | CA414769792 | ZIC3 | c.376G>C (p.Gly126Arg) | |
X | g.137567067G>T | CA414769791 | ZIC3 | c.376G>T (p.Gly126Trp) | |
X | g.137567068G>A | CA414769793 | ZIC3 | c.377G>A (p.Gly126Glu) | |
X | g.137567068G>C | CA414769795 | ZIC3 | c.377G>C (p.Gly126Ala) | |
X | g.137567068G= | CA2460728017 | ZIC3 | c.377G= (p.Gly126=) | |
X | g.137567068G>T | CA414769794 | ZIC3 | c.377G>T (p.Gly126Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.137567069G>A | CA518857599 | ZIC3 | c.378G>A (p.Gly126=) | dbSNP gnomAD v4 |
X | g.137567069G>C | CA518857601 | ZIC3 | c.378G>C (p.Gly126=) | |
X | g.137567069G>T | CA518857598 | ZIC3 | c.378G>T (p.Gly126=) | gnomAD v4 |
X | g.137567070C>A | CA414769796 | ZIC3 | c.379C>A (p.Leu127Ile) | gnomAD v4 |
X | g.137567070C>G | CA414769798 | ZIC3 | c.379C>G (p.Leu127Val) | |
X | g.137567070C>T | CA414769797 | ZIC3 | c.379C>T (p.Leu127Phe) | |
X | g.137567071T>A | CA414769799 | ZIC3 | c.380T>A (p.Leu127His) | |
X | g.137567071T>C | CA414769800 | ZIC3 | c.380T>C (p.Leu127Pro) | gnomAD v4 |
X | g.137567071T>G | CA414769801 | ZIC3 | c.380T>G (p.Leu127Arg) | |
X | g.137567072C>A | CA518857605 | ZIC3 | c.381C>A (p.Leu127=) | |
X | g.137567072C= | CA2460728018 | ZIC3 | c.381C= (p.Leu127=) | |
X | g.137567072C>G | CA518857606 | ZIC3 | c.381C>G (p.Leu127=) | |
X | g.137567072C>T | CA518857607 | ZIC3 | c.381C>T (p.Leu127=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.137567073A= | CA2460728019 | ZIC3 | c.382A= (p.Ser128=) | |
X | g.137567073A>C | CA414769802 | ZIC3 | c.382A>C (p.Ser128Arg) | |
X | g.137567073A>G | CA414769803 | ZIC3 | c.382A>G (p.Ser128Gly) | dbSNP gnomAD v4 |
X | g.137567073A>T | CA414769804 | ZIC3 | c.382A>T (p.Ser128Cys) | |
X | g.137567074G>A | CA414769805 | ZIC3 | c.383G>A (p.Ser128Asn) | |
X | g.137567074G>C | CA414769806 | ZIC3 | c.383G>C (p.Ser128Thr) | |
X | g.137567074G>T | CA414769807 | ZIC3 | c.383G>T (p.Ser128Ile) | |
X | g.137567075T>A | CA414769808 | ZIC3 | c.384T>A (p.Ser128Arg) | |
X | g.137567075T>C | CA518857609 | ZIC3 | c.384T>C (p.Ser128=) | |
X | g.137567075T>G | CA414769809 | ZIC3 | c.384T>G (p.Ser128Arg) | |
X | g.137567076G>A | CA414769810 | ZIC3 | c.385G>A (p.Glu129Lys) | |
X | g.137567076G>C | CA414769812 | ZIC3 | c.385G>C (p.Glu129Gln) | |
X | g.137567076G>T | CA414769811 | ZIC3 | c.385G>T (p.Glu129Ter) |