| 12 | g.91055576T>A | CA386013513 | KERA | c.706A>T (p.Ile236Phe)
| |
| 12 | g.91055576T>C | CA386013514 | KERA | c.706A>G (p.Ile236Val)
| |
| 12 | g.91055576T>G | CA386013515 | KERA | c.706A>C (p.Ile236Leu)
| |
| 12 | g.91055577C>A | CA481306714 | KERA | c.705G>T (p.Val235=)
| |
| 12 | g.91055577C>G | CA481306715 | KERA | c.705G>C (p.Val235=)
| |
| 12 | g.91055577C>T | CA481306717 | KERA | c.705G>A (p.Val235=)
| |
| 12 | g.91055578A= | CA2054259677 | KERA | c.704T= (p.Val235=)
| |
| 12 | g.91055578A>C | CA241201318 | KERA | c.704T>G (p.Val235Gly)
| dbSNP |
| 12 | g.91055578A>G | CA386013517 | KERA | c.704T>C (p.Val235Ala)
| COSMIC |
| 12 | g.91055578A>T | CA386013516 | KERA | c.704T>A (p.Val235Glu)
| |
| 12 | g.91055579C>A | CA386013518 | KERA | c.703G>T (p.Val235Leu)
| dbSNP |
| 12 | g.91055579C= | CA2054259678 | KERA | c.703G= (p.Val235=)
| |
| 12 | g.91055579C>G | CA386013520 | KERA | c.703G>C (p.Val235Leu)
| |
| 12 | g.91055579C>T | CA386013519 | KERA | c.703G>A (p.Val235Met)
| |
| 12 | g.91055580A>C | CA386013521 | KERA | c.702T>G (p.Asn234Lys)
| |
| 12 | g.91055580A>G | CA481306726 | KERA | c.702T>C (p.Asn234=)
| gnomAD v4 |
| 12 | g.91055580A>T | CA386013522 | KERA | c.702T>A (p.Asn234Lys)
| gnomAD v4 |
| 12 | g.91055581T>A | CA386013523 | KERA | c.701A>T (p.Asn234Ile)
| |
| 12 | g.91055581T>C | CA386013525 | KERA | c.701A>G (p.Asn234Ser)
| gnomAD v4 |
| 12 | g.91055581T>G | CA386013524 | KERA | c.701A>C (p.Asn234Thr)
| |
| 12 | g.91055582T>A | CA386013526 | KERA | c.700A>T (p.Asn234Tyr)
| |
| 12 | g.91055582T>C | CA386013527 | KERA | c.700A>G (p.Asn234Asp)
| |
| 12 | g.91055582T>G | CA386013528 | KERA | c.700A>C (p.Asn234His)
| |
| 12 | g.91055582_91055583delinsTA | CA2054259679 | KERA | c.699_700delinsTA (p.Phe233=)
| |
| 12 | g.91055583A>C | CA386013529 | KERA | c.699T>G (p.Phe233Leu)
| |
| 12 | g.91055583A>G | CA481306727 | KERA | c.699T>C (p.Phe233=)
| |
| 12 | g.91055583A>T | CA386013530 | KERA | c.699T>A (p.Phe233Leu)
| |
| 12 | g.91055586del | CA2054259680 | KERA | c.699del (p.Phe233LeufsTer3)
| dbSNP |
| 12 | g.91055584A>C | CA386013531 | KERA | c.698T>G (p.Phe233Cys)
| |
| 12 | g.91055584A>G | CA386013532 | KERA | c.698T>C (p.Phe233Ser)
| |
| 12 | g.91055584A>T | CA386013533 | KERA | c.698T>A (p.Phe233Tyr)
| |
| 12 | g.91055585A>C | CA386013536 | KERA | c.697T>G (p.Phe233Val)
| |
| 12 | g.91055585A>G | CA386013535 | KERA | c.697T>C (p.Phe233Leu)
| |
| 12 | g.91055585A>T | CA386013534 | KERA | c.697T>A (p.Phe233Ile)
| |
| 12 | g.91055586A= | CA2054259681 | KERA | c.696T= (p.Tyr232=)
| |
| 12 | g.91055586A>C | CA6716527 | KERA | c.696T>G (p.Tyr232Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.91055586A>G | CA481306733 | KERA | c.696T>C (p.Tyr232=)
| dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91055586A>T | CA386013537 | KERA | c.696T>A (p.Tyr232Ter)
| |
| 12 | g.91055587T>A | CA386013538 | KERA | c.695A>T (p.Tyr232Phe)
| COSMIC |
| 12 | g.91055587T>C | CA386013539 | KERA | c.695A>G (p.Tyr232Cys)
| |
| 12 | g.91055587T>G | CA386013540 | KERA | c.695A>C (p.Tyr232Ser)
| |
| 12 | g.91055588A= | CA2054259682 | KERA | c.694T= (p.Tyr232=)
| |
| 12 | g.91055588A>C | CA386013541 | KERA | c.694T>G (p.Tyr232Asp)
| dbSNP gnomAD v4 |
| 12 | g.91055588A>G | CA386013542 | KERA | c.694T>C (p.Tyr232His)
| |
| 12 | g.91055588A>T | CA386013543 | KERA | c.694T>A (p.Tyr232Asn)
| |
| 12 | g.91055589A>C | CA386013544 | KERA | c.693T>G (p.Asn231Lys)
| |
| 12 | g.91055589A>G | CA481306737 | KERA | c.693T>C (p.Asn231=)
| |
| 12 | g.91055589A>T | CA386013545 | KERA | c.693T>A (p.Asn231Lys)
| COSMIC |
| 12 | g.91055590T>A | CA386013548 | KERA | c.692A>T (p.Asn231Ile)
| |
| 12 | g.91055590T>C | CA386013547 | KERA | c.692A>G (p.Asn231Ser)
| |
| 12 | g.91055590T>G | CA386013546 | KERA | c.692A>C (p.Asn231Thr)
| |
| 12 | g.91055591T>A | CA386013551 | KERA | c.691A>T (p.Asn231Tyr)
| dbSNP |
| 12 | g.91055591T>C | CA386013549 | KERA | c.691A>G (p.Asn231Asp)
| |
| 12 | g.91055591T>G | CA386013550 | KERA | c.691A>C (p.Asn231His)
| |
| 12 | g.91055591T= | CA2054259683 | KERA | c.691A= (p.Asn231=)
| |
| 12 | g.91055592T>A | CA386013552 | KERA | c.690A>T (p.Glu230Asp)
| |
| 12 | g.91055592T>C | CA481306745 | KERA | c.690A>G (p.Glu230=)
| |
| 12 | g.91055592T>G | CA386013553 | KERA | c.690A>C (p.Glu230Asp)
| |
| 12 | g.91055593T>A | CA386013554 | KERA | c.689A>T (p.Glu230Val)
| |
| 12 | g.91055593T>C | CA386013555 | KERA | c.689A>G (p.Glu230Gly)
| |
| 12 | g.91055593T>G | CA386013556 | KERA | c.689A>C (p.Glu230Ala)
| |
| 12 | g.91055594C>A | CA386013557 | KERA | c.688G>T (p.Glu230Ter)
| |
| 12 | g.91055594C= | CA2054259684 | KERA | c.688G= (p.Glu230=)
| |
| 12 | g.91055594C>G | CA386013558 | KERA | c.688G>C (p.Glu230Gln)
| |
| 12 | g.91055594C>T | CA241201321 | KERA | c.688G>A (p.Glu230Lys)
| dbSNP |
| 12 | g.91055595T>A | CA481306761 | KERA | c.687A>T (p.Pro229=)
| |
| 12 | g.91055595T>C | CA481306759 | KERA | c.687A>G (p.Pro229=)
| |
| 12 | g.91055595T>G | CA481306760 | KERA | c.687A>C (p.Pro229=)
| |
| 12 | g.91055596G>A | CA386013561 | KERA | c.686C>T (p.Pro229Leu)
| |
| 12 | g.91055596G>C | CA386013559 | KERA | c.686C>G (p.Pro229Arg)
| |
| 12 | g.91055596G>T | CA386013560 | KERA | c.686C>A (p.Pro229Gln)
| gnomAD v4 |
| 12 | g.91055597G>A | CA386013562 | KERA | c.685C>T (p.Pro229Ser)
| |
| 12 | g.91055597G>C | CA386013563 | KERA | c.685C>G (p.Pro229Ala)
| |
| 12 | g.91055597G>T | CA386013564 | KERA | c.685C>A (p.Pro229Thr)
| |
| 12 | g.91055598T>A | CA481306769 | KERA | c.684A>T (p.Ile228=)
| |
| 12 | g.91055598T>C | CA386013565 | KERA | c.684A>G (p.Ile228Met)
| COSMIC |
| 12 | g.91055598T>G | CA481306771 | KERA | c.684A>C (p.Ile228=)
| |
| 12 | g.91055599A>C | CA386013566 | KERA | c.683T>G (p.Ile228Arg)
| |
| 12 | g.91055599A>G | CA386013567 | KERA | c.683T>C (p.Ile228Thr)
| |
| 12 | g.91055599A>T | CA386013568 | KERA | c.683T>A (p.Ile228Lys)
| |
| 12 | g.91055600T>A | CA386013569 | KERA | c.682A>T (p.Ile228Leu)
| gnomAD v4 |
| 12 | g.91055600T>C | CA386013570 | KERA | c.682A>G (p.Ile228Val)
| |
| 12 | g.91055600T>G | CA386013571 | KERA | c.682A>C (p.Ile228Leu)
| |
| 12 | g.91055601T>A | CA481306488 | KERA | c.681A>T (p.Gly227=)
| |
| 12 | g.91055601T>C | CA481306485 | KERA | c.681A>G (p.Gly227=)
| |
| 12 | g.91055601T>G | CA481306487 | KERA | c.681A>C (p.Gly227=)
| |
| 12 | g.91055602C>A | CA386013573 | KERA | c.680G>T (p.Gly227Val)
| |
| 12 | g.91055602C= | CA2054259685 | KERA | c.680G= (p.Gly227=)
| |
| 12 | g.91055602C>G | CA386013574 | KERA | c.680G>C (p.Gly227Ala)
| |
| 12 | g.91055602C>T | CA386013572 | KERA | c.680G>A (p.Gly227Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055603C>A | CA386013575 | KERA | c.679G>T (p.Gly227Ter)
| |
| 12 | g.91055603C= | CA2054259686 | KERA | c.679G= (p.Gly227=)
| |
| 12 | g.91055603C>G | CA386013576 | KERA | c.679G>C (p.Gly227Arg)
| |
| 12 | g.91055603C>T | CA6716528 | KERA | c.679G>A (p.Gly227Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055604T>A | CA386013577 | KERA | c.678A>T (p.Glu226Asp)
| gnomAD v4 |
| 12 | g.91055604T>C | CA481306492 | KERA | c.678A>G (p.Glu226=)
| |
| 12 | g.91055604T>G | CA386013578 | KERA | c.678A>C (p.Glu226Asp)
| |
| 12 | g.91055605T>A | CA386013579 | KERA | c.677A>T (p.Glu226Val)
| |
| 12 | g.91055605T>C | CA386013580 | KERA | c.677A>G (p.Glu226Gly)
| gnomAD v4 |
| 12 | g.91055605T>G | CA386013581 | KERA | c.677A>C (p.Glu226Ala)
| |
| 12 | g.91055606C>A | CA386013582 | KERA | c.676G>T (p.Glu226Ter)
| |
| 12 | g.91055606C>G | CA386013583 | KERA | c.676G>C (p.Glu226Gln)
| |
| 12 | g.91055606C>T | CA386013584 | KERA | c.676G>A (p.Glu226Lys)
| gnomAD v4 |
| 12 | g.91055607A>C | CA386013585 | KERA | c.675T>G (p.Ile225Met)
| |
| 12 | g.91055607A>G | CA481306498 | KERA | c.675T>C (p.Ile225=)
| |
| 12 | g.91055607A>T | CA481306499 | KERA | c.675T>A (p.Ile225=)
| |
| 12 | g.91055608A= | CA2054259687 | KERA | c.674T= (p.Ile225=)
| |
| 12 | g.91055608A>C | CA386013588 | KERA | c.674T>G (p.Ile225Ser)
| |
| 12 | g.91055608A>G | CA386013586 | KERA | c.674T>C (p.Ile225Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.91055608A>T | CA386013587 | KERA | c.674T>A (p.Ile225Asn)
| gnomAD v4 |
| 12 | g.91055609T>A | CA386013589 | KERA | c.673A>T (p.Ile225Phe)
| |
| 12 | g.91055609T>C | CA6716529 | KERA | c.673A>G (p.Ile225Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.91055609T>G | CA386013590 | KERA | c.673A>C (p.Ile225Leu)
| |
| 12 | g.91055609T= | CA2054259688 | KERA | c.673A= (p.Ile225=)
| |
| 12 | g.91055610G>A | CA481306507 | KERA | c.672C>T (p.Ser224=)
| |
| 12 | g.91055610G>C | CA481306508 | KERA | c.672C>G (p.Ser224=)
| |
| 12 | g.91055610G>T | CA481306509 | KERA | c.672C>A (p.Ser224=)
| |
| 12 | g.91055611G>A | CA386013591 | KERA | c.671C>T (p.Ser224Phe)
| gnomAD v4 |
| 12 | g.91055611G>C | CA386013592 | KERA | c.671C>G (p.Ser224Cys)
| COSMIC |
| 12 | g.91055611G>T | CA386013593 | KERA | c.671C>A (p.Ser224Tyr)
| |
| 12 | g.91055612A>C | CA386013594 | KERA | c.670T>G (p.Ser224Ala)
| |
| 12 | g.91055612A>G | CA386013595 | KERA | c.670T>C (p.Ser224Pro)
| |
| 12 | g.91055612A>T | CA386013596 | KERA | c.670T>A (p.Ser224Thr)
| |
| 12 | g.91055613A= | CA2054259689 | KERA | c.669T= (p.Asn223=)
| |
| 12 | g.91055613A>C | CA386013597 | KERA | c.669T>G (p.Asn223Lys)
| |
| 12 | g.91055613A>G | CA481306514 | KERA | c.669T>C (p.Asn223=)
| dbSNP |
| 12 | g.91055613A>T | CA386013598 | KERA | c.669T>A (p.Asn223Lys)
| |
| 12 | g.91055614T>A | CA386013599 | KERA | c.668A>T (p.Asn223Ile)
| |
| 12 | g.91055614T>C | CA386013600 | KERA | c.668A>G (p.Asn223Ser)
| |
| 12 | g.91055614T>G | CA386013601 | KERA | c.668A>C (p.Asn223Thr)
| |
| 12 | g.91055618_91055620del | CA2620149241 | KERA | c.666_668del (p.Asn223del)
| gnomAD v4 |
| 12 | g.91055615T>A | CA386013602 | KERA | c.667A>T (p.Asn223Tyr)
| |
| 12 | g.91055615T>C | CA386013603 | KERA | c.667A>G (p.Asn223Asp)
| |
| 12 | g.91055615T>G | CA386013604 | KERA | c.667A>C (p.Asn223His)
| |
| 12 | g.91055616G>A | CA481306516 | KERA | c.666C>T (p.Asn222=)
| dbSNP |
| 12 | g.91055616G>C | CA386013605 | KERA | c.666C>G (p.Asn222Lys)
| |
| 12 | g.91055616G= | CA2054259690 | KERA | c.666C= (p.Asn222=)
| |
| 12 | g.91055616G>T | CA241201345 | KERA | c.666C>A (p.Asn222Lys)
| dbSNP |
| 12 | g.91055617T>A | CA386013606 | KERA | c.665A>T (p.Asn222Ile)
| |
| 12 | g.91055617T>C | CA241201346 | KERA | c.665A>G (p.Asn222Ser)
| dbSNP gnomAD v4 |
| 12 | g.91055617T>G | CA386013607 | KERA | c.665A>C (p.Asn222Thr)
| |
| 12 | g.91055617T= | CA2054259691 | KERA | c.665A= (p.Asn222=)
| |
| 12 | g.91055618T>A | CA386013608 | KERA | c.664A>T (p.Asn222Tyr)
| |
| 12 | g.91055618T>C | CA386013610 | KERA | c.664A>G (p.Asn222Asp)
| |
| 12 | g.91055618T>G | CA386013609 | KERA | c.664A>C (p.Asn222His)
| |
| 12 | g.91055619G>A | CA481306522 | KERA | c.663C>T (p.Asp221=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055619G>C | CA386013611 | KERA | c.663C>G (p.Asp221Glu)
| |
| 12 | g.91055619G= | CA2054259692 | KERA | c.663C= (p.Asp221=)
| |
| 12 | g.91055619G>T | CA241201349 | KERA | c.663C>A (p.Asp221Glu)
| dbSNP |
| 12 | g.91055620T>A | CA386013612 | KERA | c.662A>T (p.Asp221Val)
| |
| 12 | g.91055620T>C | CA386013613 | KERA | c.662A>G (p.Asp221Gly)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.91055620T>G | CA386013614 | KERA | c.662A>C (p.Asp221Ala)
| |
| 12 | g.91055620T= | CA2054259693 | KERA | c.662A= (p.Asp221=)
| |
| 12 | g.91055621C>A | CA386013615 | KERA | c.661G>T (p.Asp221Tyr)
| |
| 12 | g.91055621C= | CA2054259694 | KERA | c.661G= (p.Asp221=)
| |
| 12 | g.91055621C>G | CA6716530 | KERA | c.661G>C (p.Asp221His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.91055621C>T | CA386013616 | KERA | c.661G>A (p.Asp221Asn)
| COSMIC |
| 12 | g.91055622T>A | CA386013617 | KERA | c.660A>T (p.Leu220Phe)
| |
| 12 | g.91055622T>C | CA481306525 | KERA | c.660A>G (p.Leu220=)
| ClinVar |
| 12 | g.91055622T>G | CA386013618 | KERA | c.660A>C (p.Leu220Phe)
| |
| 12 | g.91055623A>C | CA386013619 | KERA | c.659T>G (p.Leu220Ter)
| |
| 12 | g.91055623A>G | CA386013620 | KERA | c.659T>C (p.Leu220Ser)
| gnomAD v4 |
| 12 | g.91055623A>T | CA386013621 | KERA | c.659T>A (p.Leu220Ter)
| |
| 12 | g.91055627del | CA2523232887 | KERA | c.659del (p.Leu220Ter)
| |
| 12 | g.91055624A>C | CA386013622 | KERA | c.658T>G (p.Leu220Val)
| |
| 12 | g.91055624A>G | CA481306528 | KERA | c.658T>C (p.Leu220=)
| gnomAD v4 |
| 12 | g.91055624A>T | CA386013623 | KERA | c.658T>A (p.Leu220Ile)
| |
| 12 | g.91055625A>C | CA386013624 | KERA | c.657T>G (p.Phe219Leu)
| |
| 12 | g.91055625A>G | CA481306531 | KERA | c.657T>C (p.Phe219=)
| |
| 12 | g.91055625A>T | CA386013625 | KERA | c.657T>A (p.Phe219Leu)
| |
| 12 | g.91055626A= | CA2054259695 | KERA | c.656T= (p.Phe219=)
| |
| 12 | g.91055626A>C | CA386013626 | KERA | c.656T>G (p.Phe219Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91055626A>G | CA386013627 | KERA | c.656T>C (p.Phe219Ser)
| |
| 12 | g.91055626A>T | CA386013628 | KERA | c.656T>A (p.Phe219Tyr)
| |
| 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)
| |
