12 | g.91055627del | CA2523232887 | KERA | c.659del (p.Leu220Ter)
| |
12 | g.91055627A>C | CA386013629 | KERA | c.655T>G (p.Phe219Val)
| |
12 | g.91055627A>G | CA386013630 | KERA | c.655T>C (p.Phe219Leu)
| |
12 | g.91055627A>T | CA386013631 | KERA | c.655T>A (p.Phe219Ile)
| |
12 | g.91055628C>A | CA386013632 | KERA | c.654G>T (p.Leu218Phe)
| |
12 | g.91055628C>G | CA386013633 | KERA | c.654G>C (p.Leu218Phe)
| |
12 | g.91055628C>T | CA481306542 | KERA | c.654G>A (p.Leu218=)
| |
12 | g.91055629A= | CA2054259696 | KERA | c.653T= (p.Leu218=)
| |
12 | g.91055629A>C | CA386013634 | KERA | c.653T>G (p.Leu218Trp)
| |
12 | g.91055629A>G | CA386013635 | KERA | c.653T>C (p.Leu218Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055629A>T | CA386013636 | KERA | c.653T>A (p.Leu218Ter)
| |
12 | g.91055630A>C | CA386013637 | KERA | c.652T>G (p.Leu218Val)
| |
12 | g.91055630A>G | CA481306546 | KERA | c.652T>C (p.Leu218=)
| |
12 | g.91055630A>T | CA386013638 | KERA | c.652T>A (p.Leu218Met)
| |
12 | g.91055631C>A | CA386013639 | KERA | c.651G>T (p.Gln217His)
| |
12 | g.91055631C>G | CA386013640 | KERA | c.651G>C (p.Gln217His)
| gnomAD v4 |
12 | g.91055631C>T | CA481306549 | KERA | c.651G>A (p.Gln217=)
| |
12 | g.91055632T>A | CA386013641 | KERA | c.650A>T (p.Gln217Leu)
| dbSNP gnomAD v4 |
12 | g.91055632T>C | CA386013642 | KERA | c.650A>G (p.Gln217Arg)
| |
12 | g.91055632T>G | CA386013643 | KERA | c.650A>C (p.Gln217Pro)
| COSMIC |
12 | g.91055632T= | CA2054259697 | KERA | c.650A= (p.Gln217=)
| |
12 | g.91055633G>A | CA386013646 | KERA | c.649C>T (p.Gln217Ter)
| |
12 | g.91055633G>C | CA386013644 | KERA | c.649C>G (p.Gln217Glu)
| |
12 | g.91055633G>T | CA386013645 | KERA | c.649C>A (p.Gln217Lys)
| |
12 | g.91055634C>A | CA386013647 | KERA | c.648G>T (p.Met216Ile)
| |
12 | g.91055634C>G | CA386013648 | KERA | c.648G>C (p.Met216Ile)
| |
12 | g.91055634C>T | CA386013649 | KERA | c.648G>A (p.Met216Ile)
| |
12 | g.91055635A>C | CA386013650 | KERA | c.647T>G (p.Met216Arg)
| |
12 | g.91055635A>G | CA386013651 | KERA | c.647T>C (p.Met216Thr)
| |
12 | g.91055635A>T | CA386013652 | KERA | c.647T>A (p.Met216Lys)
| |
12 | g.91055636T>A | CA386013653 | KERA | c.646A>T (p.Met216Leu)
| |
12 | g.91055636T>C | CA386013654 | KERA | c.646A>G (p.Met216Val)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055636T>G | CA386013655 | KERA | c.646A>C (p.Met216Leu)
| |
12 | g.91055636T= | CA2054259698 | KERA | c.646A= (p.Met216=)
| |
12 | g.91055637T>A | CA481306557 | KERA | c.645A>T (p.Thr215=)
| |
12 | g.91055637T>C | CA481306558 | KERA | c.645A>G (p.Thr215=)
| |
12 | g.91055637T>G | CA481306559 | KERA | c.645A>C (p.Thr215=)
| |
12 | g.91055638G>A | CA386013656 | KERA | c.644C>T (p.Thr215Ile)
| gnomAD v4 |
12 | g.91055638G>C | CA386013657 | KERA | c.644C>G (p.Thr215Arg)
| |
12 | g.91055638G= | CA2054259699 | KERA | c.644C= (p.Thr215=)
| |
12 | g.91055638G>T | CA118324 | KERA | c.644C>A (p.Thr215Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055639T>A | CA386013658 | KERA | c.643A>T (p.Thr215Ser)
| |
12 | g.91055639T>C | CA386013660 | KERA | c.643A>G (p.Thr215Ala)
| gnomAD v4 |
12 | g.91055639T>G | CA386013659 | KERA | c.643A>C (p.Thr215Pro)
| |
12 | g.91055639dup | CA2620149242 | KERA | c.643dup (p.Thr215AsnfsTer12)
| gnomAD v4 |
12 | g.91055640A>C | CA386013661 | KERA | c.642T>G (p.Asn214Lys)
| |
12 | g.91055640A>G | CA481306565 | KERA | c.642T>C (p.Asn214=)
| |
12 | g.91055640A>T | CA386013662 | KERA | c.642T>A (p.Asn214Lys)
| |
12 | g.91055641T>A | CA386013663 | KERA | c.641A>T (p.Asn214Ile)
| |
12 | g.91055641T>C | CA386013664 | KERA | c.641A>G (p.Asn214Ser)
| dbSNP gnomAD v4 |
12 | g.91055641T>G | CA386013665 | KERA | c.641A>C (p.Asn214Thr)
| |
12 | g.91055641T= | CA2054259700 | KERA | c.641A= (p.Asn214=)
| |
12 | g.91055642T>A | CA386013666 | KERA | c.640A>T (p.Asn214Tyr)
| |
12 | g.91055642T>C | CA386013667 | KERA | c.640A>G (p.Asn214Asp)
| |
12 | g.91055642T>G | CA386013668 | KERA | c.640A>C (p.Asn214His)
| |
12 | g.91055643G>A | CA481306575 | KERA | c.639C>T (p.Ala213=)
| COSMIC |
12 | g.91055643G>C | CA481306574 | KERA | c.639C>G (p.Ala213=)
| |
12 | g.91055643G>T | CA481306572 | KERA | c.639C>A (p.Ala213=)
| |
12 | g.91055644G>A | CA386013669 | KERA | c.638C>T (p.Ala213Val)
| |
12 | g.91055644G>C | CA386013671 | KERA | c.638C>G (p.Ala213Gly)
| |
12 | g.91055644G>T | CA386013670 | KERA | c.638C>A (p.Ala213Asp)
| |
12 | g.91055645C>A | CA386013672 | KERA | c.637G>T (p.Ala213Ser)
| |
12 | g.91055645C>G | CA386013673 | KERA | c.637G>C (p.Ala213Pro)
| |
12 | g.91055645C>T | CA386013674 | KERA | c.637G>A (p.Ala213Thr)
| |
12 | g.91055646T>A | CA481306581 | KERA | c.636A>T (p.Pro212=)
| |
12 | g.91055646T>C | CA6716531 | KERA | c.636A>G (p.Pro212=)
| dbSNP ExAC gnomAD v2 |
12 | g.91055646T>G | CA481306582 | KERA | c.636A>C (p.Pro212=)
| |
12 | g.91055646T= | CA2054259701 | KERA | c.636A= (p.Pro212=)
| |
12 | g.91055647G>A | CA386013675 | KERA | c.635C>T (p.Pro212Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055647G>C | CA386013676 | KERA | c.635C>G (p.Pro212Arg)
| |
12 | g.91055647G= | CA2054259702 | KERA | c.635C= (p.Pro212=)
| |
12 | g.91055647G>T | CA386013677 | KERA | c.635C>A (p.Pro212Gln)
| |
12 | g.91055648G>A | CA386013678 | KERA | c.634C>T (p.Pro212Ser)
| |
12 | g.91055648G>C | CA386013679 | KERA | c.634C>G (p.Pro212Ala)
| |
12 | g.91055648G>T | CA386013680 | KERA | c.634C>A (p.Pro212Thr)
| |
12 | g.91055649T>A | CA386013681 | KERA | c.633A>T (p.Leu211Phe)
| |
12 | g.91055649T>C | CA481306586 | KERA | c.633A>G (p.Leu211=)
| |
12 | g.91055649T>G | CA6716532 | KERA | c.633A>C (p.Leu211Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055649T= | CA2054259703 | KERA | c.633A= (p.Leu211=)
| |
12 | g.91055650A= | CA2054259704 | KERA | c.632T= (p.Leu211=)
| |
12 | g.91055650A>C | CA386013682 | KERA | c.632T>G (p.Leu211Ter)
| |
12 | g.91055650A>G | CA386013684 | KERA | c.632T>C (p.Leu211Ser)
| dbSNP gnomAD v2 |
12 | g.91055650A>T | CA386013683 | KERA | c.632T>A (p.Leu211Ter)
| |
12 | g.91055651A= | CA2054259705 | KERA | c.631T= (p.Leu211=)
| |
12 | g.91055651A>C | CA386013685 | KERA | c.631T>G (p.Leu211Val)
| |
12 | g.91055651A>G | CA481306589 | KERA | c.631T>C (p.Leu211=)
| dbSNP gnomAD v4 |
12 | g.91055651A>T | CA386013686 | KERA | c.631T>A (p.Leu211Ile)
| |
12 | g.91055652T>A | CA386013687 | KERA | c.630A>T (p.Arg210Ser)
| gnomAD v4 |
12 | g.91055652T>C | CA481306591 | KERA | c.630A>G (p.Arg210=)
| |
12 | g.91055652T>G | CA386013688 | KERA | c.630A>C (p.Arg210Ser)
| |
12 | g.91055653C>A | CA386013689 | KERA | c.629G>T (p.Arg210Ile)
| dbSNP gnomAD v4 |
12 | g.91055653C= | CA2054259706 | KERA | c.629G= (p.Arg210=)
| |
12 | g.91055653C>G | CA386013690 | KERA | c.629G>C (p.Arg210Thr)
| |
12 | g.91055653C>T | CA386013691 | KERA | c.629G>A (p.Arg210Lys)
| |
12 | g.91055654T>A | CA386013692 | KERA | c.628A>T (p.Arg210Ter)
| |
12 | g.91055654T>C | CA386013693 | KERA | c.628A>G (p.Arg210Gly)
| gnomAD v4 COSMIC |
12 | g.91055654T>G | CA481306595 | KERA | c.628A>C (p.Arg210=)
| |
12 | g.91055655T>A | CA481306597 | KERA | c.627A>T (p.Pro209=)
| |
12 | g.91055655T>C | CA481306598 | KERA | c.627A>G (p.Pro209=)
| dbSNP |
12 | g.91055655T>G | CA481306599 | KERA | c.627A>C (p.Pro209=)
| |
12 | g.91055655T= | CA2054259707 | KERA | c.627A= (p.Pro209=)
| |
12 | g.91055656G>A | CA386013694 | KERA | c.626C>T (p.Pro209Leu)
| dbSNP |
12 | g.91055656G>C | CA386013696 | KERA | c.626C>G (p.Pro209Arg)
| |
12 | g.91055656G= | CA2054259708 | KERA | c.626C= (p.Pro209=)
| |
12 | g.91055656G>T | CA386013695 | KERA | c.626C>A (p.Pro209Gln)
| |
12 | g.91055657G>A | CA386013697 | KERA | c.625C>T (p.Pro209Ser)
| COSMIC |
12 | g.91055657G>C | CA386013698 | KERA | c.625C>G (p.Pro209Ala)
| |
12 | g.91055657G>T | CA386013699 | KERA | c.625C>A (p.Pro209Thr)
| |
12 | g.91055658A= | CA2054259709 | KERA | c.624T= (p.Pro208=)
| |
12 | g.91055658A>C | CA481306604 | KERA | c.624T>G (p.Pro208=)
| |
12 | g.91055658A>G | CA481306605 | KERA | c.624T>C (p.Pro208=)
| dbSNP |
12 | g.91055658A>T | CA481306606 | KERA | c.624T>A (p.Pro208=)
| |
12 | g.91055659G>A | CA386013700 | KERA | c.623C>T (p.Pro208Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055659G>C | CA386013701 | KERA | c.623C>G (p.Pro208Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055659G= | CA2054259710 | KERA | c.623C= (p.Pro208=)
| |
12 | g.91055659G>T | CA6716533 | KERA | c.623C>A (p.Pro208His)
| dbSNP ExAC |
12 | g.91055659_91055660del | CA2620149243 | KERA | c.622_623del (p.Pro208SerfsTer18)
| gnomAD v4 |
12 | g.91055660G>A | CA6716534 | KERA | c.622C>T (p.Pro208Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055660G>C | CA386013702 | KERA | c.622C>G (p.Pro208Ala)
| |
12 | g.91055660G= | CA2054259711 | KERA | c.622C= (p.Pro208=)
| |
12 | g.91055660G>T | CA386013703 | KERA | c.622C>A (p.Pro208Thr)
| |
12 | g.91055661C>A | CA386013706 | KERA | c.621G>T (p.Met207Ile)
| |
12 | g.91055661C= | CA2054259712 | KERA | c.621G= (p.Met207=)
| |
12 | g.91055661C>G | CA386013704 | KERA | c.621G>C (p.Met207Ile)
| dbSNP |
12 | g.91055661C>T | CA386013705 | KERA | c.621G>A (p.Met207Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055662A>C | CA386013707 | KERA | c.620T>G (p.Met207Arg)
| |
12 | g.91055662A>G | CA386013708 | KERA | c.620T>C (p.Met207Thr)
| |
12 | g.91055662A>T | CA386013709 | KERA | c.620T>A (p.Met207Lys)
| |
12 | g.91055663T>A | CA386013710 | KERA | c.619A>T (p.Met207Leu)
| |
12 | g.91055663T>C | CA386013711 | KERA | c.619A>G (p.Met207Val)
| dbSNP |
12 | g.91055663T>G | CA386013712 | KERA | c.619A>C (p.Met207Leu)
| |
12 | g.91055663T= | CA2054259713 | KERA | c.619A= (p.Met207=)
| |
12 | g.91055664A= | CA2054259714 | KERA | c.618T= (p.Asn206=)
| |
12 | g.91055664A>C | CA386013713 | KERA | c.618T>G (p.Asn206Lys)
| |
12 | g.91055664A>G | CA6716535 | KERA | c.618T>C (p.Asn206=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055664A>T | CA386013714 | KERA | c.618T>A (p.Asn206Lys)
| |
12 | g.91055665T>A | CA386013716 | KERA | c.617A>T (p.Asn206Ile)
| ClinVar COSMIC |
12 | g.91055665T>C | CA386013717 | KERA | c.617A>G (p.Asn206Ser)
| gnomAD v4 |
12 | g.91055665T>G | CA386013715 | KERA | c.617A>C (p.Asn206Thr)
| |
12 | g.91055666T>A | CA386013718 | KERA | c.616A>T (p.Asn206Tyr)
| |
12 | g.91055666T>C | CA6716536 | KERA | c.616A>G (p.Asn206Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.91055666T>G | CA386013719 | KERA | c.616A>C (p.Asn206His)
| gnomAD v4 |
12 | g.91055666T= | CA2054259715 | KERA | c.616A= (p.Asn206=)
| |
12 | g.91055667C>A | CA386013720 | KERA | c.615G>T (p.Arg205Ser)
| COSMIC |
12 | g.91055667C= | CA2054259716 | KERA | c.615G= (p.Arg205=)
| |
12 | g.91055667C>G | CA386013721 | KERA | c.615G>C (p.Arg205Ser)
| |
12 | g.91055667C>T | CA6716537 | KERA | c.615G>A (p.Arg205=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055668C>A | CA386013722 | KERA | c.614G>T (p.Arg205Met)
| |
12 | g.91055668C= | CA2054259717 | KERA | c.614G= (p.Arg205=)
| |
12 | g.91055668C>G | CA386013723 | KERA | c.614G>C (p.Arg205Thr)
| |
12 | g.91055668C>T | CA241201375 | KERA | c.614G>A (p.Arg205Lys)
| dbSNP gnomAD v4 |
12 | g.91055669T>A | CA386013724 | KERA | c.613A>T (p.Arg205Trp)
| |
12 | g.91055669T>C | CA386013725 | KERA | c.613A>G (p.Arg205Gly)
| |
12 | g.91055669T>G | CA241201380 | KERA | c.613A>C (p.Arg205=)
| dbSNP gnomAD v4 |
12 | g.91055669T= | CA2054259718 | KERA | c.613A= (p.Arg205=)
| |
12 | g.91055670C>A | CA481306623 | KERA | c.612G>T (p.Leu204=)
| |
12 | g.91055670C>G | CA481306624 | KERA | c.612G>C (p.Leu204=)
| |
12 | g.91055670C>T | CA481306626 | KERA | c.612G>A (p.Leu204=)
| |
12 | g.91055671A>C | CA386013726 | KERA | c.611T>G (p.Leu204Arg)
| |
12 | g.91055671A>G | CA386013727 | KERA | c.611T>C (p.Leu204Pro)
| |
12 | g.91055671A>T | CA386013728 | KERA | c.611T>A (p.Leu204Gln)
| |
12 | g.91055672G>A | CA481306637 | KERA | c.610C>T (p.Leu204=)
| |
12 | g.91055672G>C | CA386013729 | KERA | c.610C>G (p.Leu204Val)
| |
12 | g.91055672G>T | CA386013730 | KERA | c.610C>A (p.Leu204Met)
| |
12 | g.91055673G>A | CA481306639 | KERA | c.609C>T (p.Ala203=)
| |
12 | g.91055673G>C | CA481306641 | KERA | c.609C>G (p.Ala203=)
| |
12 | g.91055673G>T | CA481306642 | KERA | c.609C>A (p.Ala203=)
| |
12 | g.91055674G>A | CA386013731 | KERA | c.608C>T (p.Ala203Val)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055674G>C | CA386013732 | KERA | c.608C>G (p.Ala203Gly)
| |
12 | g.91055674G= | CA2054259719 | KERA | c.608C= (p.Ala203=)
| |
12 | g.91055674G>T | CA386013733 | KERA | c.608C>A (p.Ala203Asp)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055675C>A | CA386013734 | KERA | c.607G>T (p.Ala203Ser)
| |
12 | g.91055675C= | CA2054259720 | KERA | c.607G= (p.Ala203=)
| |
12 | g.91055675C>G | CA386013735 | KERA | c.607G>C (p.Ala203Pro)
| |
12 | g.91055675C>T | CA386013736 | KERA | c.607G>A (p.Ala203Thr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055676A= | CA2054259722 | KERA | c.606T= (p.Asn202=)
| |
12 | g.91055676A>C | CA386013737 | KERA | c.606T>G (p.Asn202Lys)
| |
12 | g.91055676A>G | CA481306655 | KERA | c.606T>C (p.Asn202=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055676A>T | CA386013738 | KERA | c.606T>A (p.Asn202Lys)
| |
12 | g.91055677T>A | CA386013741 | KERA | c.605A>T (p.Asn202Ile)
| |
12 | g.91055677T>C | CA386013740 | KERA | c.605A>G (p.Asn202Ser)
| dbSNP gnomAD v4 |
12 | g.91055677T>G | CA386013739 | KERA | c.605A>C (p.Asn202Thr)
| |
12 | g.91055678T>A | CA386013742 | KERA | c.604A>T (p.Asn202Tyr)
| |
12 | g.91055678T>C | CA386013743 | KERA | c.604A>G (p.Asn202Asp)
| |
12 | g.91055678T>G | CA386013744 | KERA | c.604A>C (p.Asn202His)
| |
12 | g.91055679C>A | CA386013745 | KERA | c.603G>T (p.Lys201Asn)
| |
12 | g.91055679C>G | CA386013746 | KERA | c.603G>C (p.Lys201Asn)
| |
12 | g.91055679C>T | CA481306666 | KERA | c.603G>A (p.Lys201=)
| |
12 | g.91055680T>A | CA386013747 | KERA | c.602A>T (p.Lys201Met)
| |
12 | g.91055680T>C | CA386013748 | KERA | c.602A>G (p.Lys201Arg)
| |
12 | g.91055680T>G | CA386013749 | KERA | c.602A>C (p.Lys201Thr)
| |
12 | g.91055681T>A | CA386013750 | KERA | c.601A>T (p.Lys201Ter)
| |
12 | g.91055681T>C | CA386013751 | KERA | c.601A>G (p.Lys201Glu)
| |
12 | g.91055681T>G | CA386013752 | KERA | c.601A>C (p.Lys201Gln)
| |
12 | g.91055682G>A | CA481306678 | KERA | c.600C>T (p.Ala200=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055682G>C | CA481306683 | KERA | c.600C>G (p.Ala200=)
| |
12 | g.91055682G= | CA2054259723 | KERA | c.600C= (p.Ala200=)
| |
12 | g.91055682G>T | CA481306680 | KERA | c.600C>A (p.Ala200=)
| |
12 | g.91055683G>A | CA386013753 | KERA | c.599C>T (p.Ala200Val)
| gnomAD v4 |
12 | g.91055683G>C | CA386013755 | KERA | c.599C>G (p.Ala200Gly)
| |
12 | g.91055683G>T | CA386013754 | KERA | c.599C>A (p.Ala200Asp)
| gnomAD v4 |
12 | g.91055684C>A | CA386013756 | KERA | c.598G>T (p.Ala200Ser)
| |
12 | g.91055684C>G | CA386013757 | KERA | c.598G>C (p.Ala200Pro)
| |
12 | g.91055684C>T | CA386013758 | KERA | c.598G>A (p.Ala200Thr)
| |
12 | g.91055685C>A | CA386013759 | KERA | c.597G>T (p.Met199Ile)
| |
12 | g.91055685C= | CA2054259729 | KERA | c.597G= (p.Met199=)
| |
12 | g.91055685C>G | CA386013760 | KERA | c.597G>C (p.Met199Ile)
| |
12 | g.91055685C>T | CA6716538 | KERA | c.597G>A (p.Met199Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055686A= | CA2054259735 | KERA | c.596T= (p.Met199=)
| |
12 | g.91055686A>C | CA386013761 | KERA | c.596T>G (p.Met199Arg)
| |
12 | g.91055686A>G | CA6716539 | KERA | c.596T>C (p.Met199Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055686A>T | CA386013762 | KERA | c.596T>A (p.Met199Lys)
| |
12 | g.91055687T>A | CA386013765 | KERA | c.595A>T (p.Met199Leu)
| |
12 | g.91055687T>C | CA386013764 | KERA | c.595A>G (p.Met199Val)
| |
12 | g.91055687T>G | CA386013763 | KERA | c.595A>C (p.Met199Leu)
| |
12 | g.91055688G>A | CA481306698 | KERA | c.594C>T (p.Asn198=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055688G>C | CA386013767 | KERA | c.594C>G (p.Asn198Lys)
| gnomAD v4 |
12 | g.91055688G= | CA2054259737 | KERA | c.594C= (p.Asn198=)
| |
12 | g.91055688G>T | CA386013766 | KERA | c.594C>A (p.Asn198Lys)
| |
12 | g.91055689T>A | CA386013770 | KERA | c.593A>T (p.Asn198Ile)
| gnomAD v4 |
12 | g.91055689T>C | CA386013768 | KERA | c.593A>G (p.Asn198Ser)
| |
12 | g.91055689T>G | CA386013769 | KERA | c.593A>C (p.Asn198Thr)
| |
12 | g.91055691del | CA2510570708 | KERA | c.593del (p.Asn198ThrfsTer7)
| |
12 | g.91055690T>A | CA386013771 | KERA | c.592A>T (p.Asn198Tyr)
| dbSNP gnomAD v4 |
12 | g.91055690T>C | CA386013772 | KERA | c.592A>G (p.Asn198Asp)
| |
12 | g.91055690T>G | CA386013773 | KERA | c.592A>C (p.Asn198His)
| |
12 | g.91055690T= | CA2054259739 | KERA | c.592A= (p.Asn198=)
| |
12 | g.91055691T>A | CA481306709 | KERA | c.591A>T (p.Leu197=)
| |
12 | g.91055691T>C | CA481306705 | KERA | c.591A>G (p.Leu197=)
| |
12 | g.91055691T>G | CA481306707 | KERA | c.591A>C (p.Leu197=)
| |
12 | g.91055692A= | CA2054259741 | KERA | c.590T= (p.Leu197=)
| |
12 | g.91055692A>C | CA386013774 | KERA | c.590T>G (p.Leu197Arg)
| |
12 | g.91055692A>G | CA6716540 | KERA | c.590T>C (p.Leu197Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055692A>T | CA386013775 | KERA | c.590T>A (p.Leu197Gln)
| |
12 | g.91055693G>A | CA481306710 | KERA | c.589C>T (p.Leu197=)
| |
12 | g.91055693G>C | CA6716541 | KERA | c.589C>G (p.Leu197Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055693G= | CA2054259744 | KERA | c.589C= (p.Leu197=)
| |
12 | g.91055693G>T | CA386013776 | KERA | c.589C>A (p.Leu197Ile)
| |
12 | g.91055694C>A | CA386013777 | KERA | c.588G>T (p.Gln196His)
| |
12 | g.91055694C= | CA2054259747 | KERA | c.588G= (p.Gln196=)
| |
12 | g.91055694C>G | CA6716542 | KERA | c.588G>C (p.Gln196His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055694C>T | CA481306716 | KERA | c.588G>A (p.Gln196=)
| |
12 | g.91055695T>A | CA386013778 | KERA | c.587A>T (p.Gln196Leu)
| |
12 | g.91055695T>C | CA386013779 | KERA | c.587A>G (p.Gln196Arg)
| |
12 | g.91055695T>G | CA386013780 | KERA | c.587A>C (p.Gln196Pro)
| gnomAD v4 |
12 | g.91055696G>A | CA386013781 | KERA | c.586C>T (p.Gln196Ter)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055696G>C | CA386013782 | KERA | c.586C>G (p.Gln196Glu)
| |
12 | g.91055696G= | CA2054259751 | KERA | c.586C= (p.Gln196=)
| |
12 | g.91055696G>T | CA386013783 | KERA | c.586C>A (p.Gln196Lys)
| |
12 | g.91055697C>A | CA386013784 | KERA | c.585G>T (p.Met195Ile)
| gnomAD v4 |
12 | g.91055697C= | CA2054259755 | KERA | c.585G= (p.Met195=)
| |
12 | g.91055697C>G | CA386013785 | KERA | c.585G>C (p.Met195Ile)
| |
12 | g.91055697C>T | CA386013786 | KERA | c.585G>A (p.Met195Ile)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055698A= | CA2054259758 | KERA | c.584T= (p.Met195=)
| |
12 | g.91055698A>C | CA386013788 | KERA | c.584T>G (p.Met195Arg)
| |
12 | g.91055698A>G | CA6716543 | KERA | c.584T>C (p.Met195Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055698A>T | CA386013787 | KERA | c.584T>A (p.Met195Lys)
| |
12 | g.91055699T>A | CA386013789 | KERA | c.583A>T (p.Met195Leu)
| |
12 | g.91055699T>C | CA386013790 | KERA | c.583A>G (p.Met195Val)
| |
12 | g.91055699T>G | CA386013791 | KERA | c.583A>C (p.Met195Leu)
| gnomAD v4 |
12 | g.91055700G>A | CA481306729 | KERA | c.582C>T (p.Leu194=)
| |
12 | g.91055700G>C | CA481306730 | KERA | c.582C>G (p.Leu194=)
| |
12 | g.91055700G>T | CA481306731 | KERA | c.582C>A (p.Leu194=)
| |
12 | g.91055701A>C | CA386013792 | KERA | c.581T>G (p.Leu194Arg)
| |
12 | g.91055701A>G | CA386013793 | KERA | c.581T>C (p.Leu194Pro)
| gnomAD v4 |
12 | g.91055701A>T | CA386013794 | KERA | c.581T>A (p.Leu194His)
| |
12 | g.91055702G>A | CA386013795 | KERA | c.580C>T (p.Leu194Phe)
| gnomAD v4 |
12 | g.91055702G>C | CA386013796 | KERA | c.580C>G (p.Leu194Val)
| |
12 | g.91055702G>T | CA386013797 | KERA | c.580C>A (p.Leu194Ile)
| |
12 | g.91055703A>C | CA386013798 | KERA | c.579T>G (p.Asn193Lys)
| |
12 | g.91055703A>G | CA481306734 | KERA | c.579T>C (p.Asn193=)
| dbSNP |
12 | g.91055703A>T | CA386013799 | KERA | c.579T>A (p.Asn193Lys)
| |
12 | g.91055704T>A | CA386013802 | KERA | c.578A>T (p.Asn193Ile)
| |
12 | g.91055704T>C | CA386013800 | KERA | c.578A>G (p.Asn193Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055704T>G | CA386013801 | KERA | c.578A>C (p.Asn193Thr)
| |
12 | g.91055704T= | CA2054259763 | KERA | c.578A= (p.Asn193=)
| |
12 | g.91055705T>A | CA386013803 | KERA | c.577A>T (p.Asn193Tyr)
| |
12 | g.91055705T>C | CA386013804 | KERA | c.577A>G (p.Asn193Asp)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055705T>G | CA386013805 | KERA | c.577A>C (p.Asn193His)
| COSMIC |
12 | g.91055705T= | CA2054259767 | KERA | c.577A= (p.Asn193=)
| |
12 | g.91055706C>A | CA386013806 | KERA | c.576G>T (p.Lys192Asn)
| |
12 | g.91055706C= | CA2054259770 | KERA | c.576G= (p.Lys192=)
| |
12 | g.91055706C>G | CA386013807 | KERA | c.576G>C (p.Lys192Asn)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055706C>T | CA481306744 | KERA | c.576G>A (p.Lys192=)
| |
12 | g.91055707T>A | CA386013808 | KERA | c.575A>T (p.Lys192Met)
| |
12 | g.91055707T>C | CA386013809 | KERA | c.575A>G (p.Lys192Arg)
| |
12 | g.91055707T>G | CA386013810 | KERA | c.575A>C (p.Lys192Thr)
| |
12 | g.91055708T>A | CA386013811 | KERA | c.574A>T (p.Lys192Ter)
| |
12 | g.91055708T>C | CA386013812 | KERA | c.574A>G (p.Lys192Glu)
| |
12 | g.91055708T>G | CA386013813 | KERA | c.574A>C (p.Lys192Gln)
| |
12 | g.91055709G>A | CA481306747 | KERA | c.573C>T (p.Leu191=)
| |
12 | g.91055709G>C | CA481306750 | KERA | c.573C>G (p.Leu191=)
| |
12 | g.91055709G>T | CA481306752 | KERA | c.573C>A (p.Leu191=)
| |
12 | g.91055710A>C | CA386013815 | KERA | c.572T>G (p.Leu191Arg)
| |
12 | g.91055710A>G | CA386013816 | KERA | c.572T>C (p.Leu191Pro)
| |
12 | g.91055710A>T | CA386013814 | KERA | c.572T>A (p.Leu191His)
| |
12 | g.91055711G>A | CA386013817 | KERA | c.571C>T (p.Leu191Phe)
| |
12 | g.91055711G>C | CA386013819 | KERA | c.571C>G (p.Leu191Val)
| |
12 | g.91055711G>T | CA386013818 | KERA | c.571C>A (p.Leu191Ile)
| |
12 | g.91055712T>A | CA6716544 | KERA | c.570A>T (p.Gly190=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055712T>C | CA481306763 | KERA | c.570A>G (p.Gly190=)
| gnomAD v4 |
12 | g.91055712T>G | CA481306764 | KERA | c.570A>C (p.Gly190=)
| |
12 | g.91055712T= | CA2054259773 | KERA | c.570A= (p.Gly190=)
| |
12 | g.91055713C>A | CA386013820 | KERA | c.569G>T (p.Gly190Val)
| |
12 | g.91055713C>G | CA386013821 | KERA | c.569G>C (p.Gly190Ala)
| |
12 | g.91055713C>T | CA386013822 | KERA | c.569G>A (p.Gly190Glu)
| |
12 | g.91055714C>A | CA386013823 | KERA | c.568G>T (p.Gly190Ter)
| |
12 | g.91055714C= | CA2054259780 | KERA | c.568G= (p.Gly190=)
| |
12 | g.91055714C>G | CA386013824 | KERA | c.568G>C (p.Gly190Arg)
| |
12 | g.91055714C>T | CA6716545 | KERA | c.568G>A (p.Gly190Arg)
| dbSNP ExAC gnomAD v2 |
12 | g.91055715T>A | CA386013825 | KERA | c.567A>T (p.Lys189Asn)
| |
12 | g.91055715T>C | CA481306779 | KERA | c.567A>G (p.Lys189=)
| |
12 | g.91055715T>G | CA386013826 | KERA | c.567A>C (p.Lys189Asn)
| |
12 | g.91055716T>A | CA386013827 | KERA | c.566A>T (p.Lys189Ile)
| |
12 | g.91055716T>C | CA386013828 | KERA | c.566A>G (p.Lys189Arg)
| |
12 | g.91055716T>G | CA386013829 | KERA | c.566A>C (p.Lys189Thr)
| |
12 | g.91055717T>A | CA386013830 | KERA | c.565A>T (p.Lys189Ter)
| |
12 | g.91055717T>C | CA386013832 | KERA | c.565A>G (p.Lys189Glu)
| gnomAD v4 |
12 | g.91055717T>G | CA386013831 | KERA | c.565A>C (p.Lys189Gln)
| |
12 | g.91055718A= | CA2054259782 | KERA | c.564T= (p.Phe188=)
| |
12 | g.91055718A>C | CA386013833 | KERA | c.564T>G (p.Phe188Leu)
| |
12 | g.91055718A>G | CA6716546 | KERA | c.564T>C (p.Phe188=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055718A>T | CA386013834 | KERA | c.564T>A (p.Phe188Leu)
| |
12 | g.91055719A>C | CA386013835 | KERA | c.563T>G (p.Phe188Cys)
| |
12 | g.91055719A>G | CA386013836 | KERA | c.563T>C (p.Phe188Ser)
| |
12 | g.91055719A>T | CA386013837 | KERA | c.563T>A (p.Phe188Tyr)
| |
12 | g.91055720A>C | CA386013838 | KERA | c.562T>G (p.Phe188Val)
| |
12 | g.91055720A>G | CA386013839 | KERA | c.562T>C (p.Phe188Leu)
| |
12 | g.91055720A>T | CA386013840 | KERA | c.562T>A (p.Phe188Ile)
| |
12 | g.91055721A= | CA2054259785 | KERA | c.561T= (p.Thr187=)
| |
12 | g.91055721A>C | CA481306797 | KERA | c.561T>G (p.Thr187=)
| dbSNP gnomAD v4 |
12 | g.91055721A>G | CA481306798 | KERA | c.561T>C (p.Thr187=)
| |
12 | g.91055721A>T | CA481306801 | KERA | c.561T>A (p.Thr187=)
| |
12 | g.91055722G>A | CA6716547 | KERA | c.560C>T (p.Thr187Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055722G>C | CA386013842 | KERA | c.560C>G (p.Thr187Ser)
| |
12 | g.91055722G= | CA2054259788 | KERA | c.560C= (p.Thr187=)
| |
12 | g.91055722G>T | CA386013841 | KERA | c.560C>A (p.Thr187Asn)
| |
12 | g.91055723T>A | CA6716548 | KERA | c.559A>T (p.Thr187Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055723T>C | CA386013843 | KERA | c.559A>G (p.Thr187Ala)
| |
12 | g.91055723T>G | CA386013844 | KERA | c.559A>C (p.Thr187Pro)
| |
12 | g.91055723T= | CA2054259791 | KERA | c.559A= (p.Thr187=)
| |
12 | g.91055724G>A | CA241201399 | KERA | c.558C>T (p.Asp186=)
| dbSNP gnomAD v4 |
12 | g.91055724G>C | CA386013845 | KERA | c.558C>G (p.Asp186Glu)
| |
12 | g.91055724G= | CA2054259794 | KERA | c.558C= (p.Asp186=)
| |
12 | g.91055724G>T | CA386013846 | KERA | c.558C>A (p.Asp186Glu)
| gnomAD v4 |
12 | g.91055725T>A | CA386013847 | KERA | c.557A>T (p.Asp186Val)
| gnomAD v4 |
12 | g.91055725T>C | CA386013848 | KERA | c.557A>G (p.Asp186Gly)
| |
12 | g.91055725T>G | CA386013849 | KERA | c.557A>C (p.Asp186Ala)
| gnomAD v4 |
12 | g.91055726C>A | CA6716549 | KERA | c.556G>T (p.Asp186Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055726C= | CA2054259798 | KERA | c.556G= (p.Asp186=)
| |
12 | g.91055726C>G | CA386013850 | KERA | c.556G>C (p.Asp186His)
| |
12 | g.91055726C>T | CA241201401 | KERA | c.556G>A (p.Asp186Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055727T>A | CA386013851 | KERA | c.555A>T (p.Arg185Ser)
| gnomAD v4 |
12 | g.91055727T>C | CA481306815 | KERA | c.555A>G (p.Arg185=)
| |
12 | g.91055727T>G | CA386013852 | KERA | c.555A>C (p.Arg185Ser)
| |