12 | g.91055505_91055512del | CA2695217070 | KERA | c.772_779del (p.Gly258CysfsTer30)
| |
12 | g.91055504C>A | CA6716511 | KERA | c.778G>T (p.Asp260Tyr)
| dbSNP ExAC |
12 | g.91055504C= | CA2054259646 | KERA | c.778G= (p.Asp260=)
| |
12 | g.91055504C>G | CA386013365 | KERA | c.778G>C (p.Asp260His)
| gnomAD v4 |
12 | g.91055504C>T | CA386013366 | KERA | c.778G>A (p.Asp260Asn)
| |
12 | g.91055505A= | CA2054259647 | KERA | c.777T= (p.Phe259=)
| |
12 | g.91055505A>C | CA386013367 | KERA | c.777T>G (p.Phe259Leu)
| dbSNP |
12 | g.91055505A>G | CA6716512 | KERA | c.777T>C (p.Phe259=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055505A>T | CA386013368 | KERA | c.777T>A (p.Phe259Leu)
| |
12 | g.91055506A>C | CA386013369 | KERA | c.776T>G (p.Phe259Cys)
| |
12 | g.91055506A>G | CA386013370 | KERA | c.776T>C (p.Phe259Ser)
| |
12 | g.91055506A>T | CA386013371 | KERA | c.776T>A (p.Phe259Tyr)
| |
12 | g.91055507A>C | CA386013372 | KERA | c.775T>G (p.Phe259Val)
| |
12 | g.91055507A>G | CA386013373 | KERA | c.775T>C (p.Phe259Leu)
| |
12 | g.91055507A>T | CA386013374 | KERA | c.775T>A (p.Phe259Ile)
| gnomAD v4 |
12 | g.91055508T>A | CA481306510 | KERA | c.774A>T (p.Gly258=)
| |
12 | g.91055508T>C | CA481306511 | KERA | c.774A>G (p.Gly258=)
| |
12 | g.91055508T>G | CA481306512 | KERA | c.774A>C (p.Gly258=)
| |
12 | g.91055509C>A | CA386013377 | KERA | c.773G>T (p.Gly258Val)
| |
12 | g.91055509C>G | CA386013375 | KERA | c.773G>C (p.Gly258Ala)
| |
12 | g.91055509C>T | CA386013376 | KERA | c.773G>A (p.Gly258Glu)
| gnomAD v4 |
12 | g.91055510C>A | CA386013378 | KERA | c.772G>T (p.Gly258Ter)
| |
12 | g.91055510C= | CA2054259648 | KERA | c.772G= (p.Gly258=)
| |
12 | g.91055510C>G | CA386013379 | KERA | c.772G>C (p.Gly258Arg)
| |
12 | g.91055510C>T | CA386013380 | KERA | c.772G>A (p.Gly258Arg)
| dbSNP |
12 | g.91055511T>A | CA386013381 | KERA | c.771A>T (p.Arg257Ser)
| |
12 | g.91055511T>C | CA481306518 | KERA | c.771A>G (p.Arg257=)
| |
12 | g.91055511T>G | CA386013382 | KERA | c.771A>C (p.Arg257Ser)
| |
12 | g.91055512C>A | CA386013383 | KERA | c.770G>T (p.Arg257Ile)
| |
12 | g.91055512C>G | CA386013384 | KERA | c.770G>C (p.Arg257Thr)
| |
12 | g.91055512C>T | CA386013385 | KERA | c.770G>A (p.Arg257Lys)
| gnomAD v4 |
12 | g.91055513T>A | CA386013386 | KERA | c.769A>T (p.Arg257Ter)
| |
12 | g.91055513T>C | CA386013387 | KERA | c.769A>G (p.Arg257Gly)
| gnomAD v4 |
12 | g.91055513T>G | CA481306523 | KERA | c.769A>C (p.Arg257=)
| |
12 | g.91055513_91055514del | CA2620149236 | KERA | c.768_769del (p.Gly258IlefsTer2)
| gnomAD v4 |
12 | g.91055514T>A | CA481306524 | KERA | c.768A>T (p.Ser256=)
| |
12 | g.91055514T>C | CA481306526 | KERA | c.768A>G (p.Ser256=)
| gnomAD v4 |
12 | g.91055514T>G | CA481306527 | KERA | c.768A>C (p.Ser256=)
| gnomAD v4 |
12 | g.91055515G>A | CA386013388 | KERA | c.767C>T (p.Ser256Leu)
| COSMIC |
12 | g.91055515G>C | CA6716514 | KERA | c.767C>G (p.Ser256Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055515G= | CA2054259649 | KERA | c.767C= (p.Ser256=)
| |
12 | g.91055515G>T | CA6716513 | KERA | c.767C>A (p.Ser256Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055516A= | CA2054259650 | KERA | c.766T= (p.Ser256=)
| |
12 | g.91055516A>C | CA386013389 | KERA | c.766T>G (p.Ser256Ala)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055516A>G | CA386013391 | KERA | c.766T>C (p.Ser256Pro)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055516A>T | CA386013390 | KERA | c.766T>A (p.Ser256Thr)
| |
12 | g.91055517T>A | CA481306534 | KERA | c.765A>T (p.Pro255=)
| |
12 | g.91055517T>C | CA481306535 | KERA | c.765A>G (p.Pro255=)
| |
12 | g.91055517T>G | CA481306536 | KERA | c.765A>C (p.Pro255=)
| |
12 | g.91055518G>A | CA386013392 | KERA | c.764C>T (p.Pro255Leu)
| |
12 | g.91055518G>C | CA386013393 | KERA | c.764C>G (p.Pro255Arg)
| |
12 | g.91055518G>T | CA386013394 | KERA | c.764C>A (p.Pro255Gln)
| |
12 | g.91055519G>A | CA386013395 | KERA | c.763C>T (p.Pro255Ser)
| |
12 | g.91055519G>C | CA386013396 | KERA | c.763C>G (p.Pro255Ala)
| |
12 | g.91055519G>T | CA386013397 | KERA | c.763C>A (p.Pro255Thr)
| |
12 | g.91055520G>A | CA481306539 | KERA | c.762C>T (p.Leu254=)
| gnomAD v4 |
12 | g.91055520G>C | CA481306540 | KERA | c.762C>G (p.Leu254=)
| |
12 | g.91055520G>T | CA481306543 | KERA | c.762C>A (p.Leu254=)
| |
12 | g.91055521A= | CA2054259651 | KERA | c.761T= (p.Leu254=)
| |
12 | g.91055521A>C | CA386013398 | KERA | c.761T>G (p.Leu254Arg)
| dbSNP gnomAD v4 |
12 | g.91055521A>G | CA386013399 | KERA | c.761T>C (p.Leu254Pro)
| COSMIC |
12 | g.91055521A>T | CA386013400 | KERA | c.761T>A (p.Leu254His)
| |
12 | g.91055522G>A | CA6716515 | KERA | c.760C>T (p.Leu254Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055522G>C | CA386013401 | KERA | c.760C>G (p.Leu254Val)
| |
12 | g.91055522G= | CA2054259652 | KERA | c.760C= (p.Leu254=)
| |
12 | g.91055522G>T | CA386013402 | KERA | c.760C>A (p.Leu254Ile)
| dbSNP |
12 | g.91055523A>C | CA481306550 | KERA | c.759T>G (p.Gly253=)
| |
12 | g.91055523A>G | CA481306551 | KERA | c.759T>C (p.Gly253=)
| |
12 | g.91055523A>T | CA481306552 | KERA | c.759T>A (p.Gly253=)
| gnomAD v4 |
12 | g.91055524C>A | CA386013403 | KERA | c.758G>T (p.Gly253Val)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055524C= | CA2054259654 | KERA | c.758G= (p.Gly253=)
| |
12 | g.91055524C>G | CA386013404 | KERA | c.758G>C (p.Gly253Ala)
| |
12 | g.91055524C>T | CA241201288 | KERA | c.758G>A (p.Gly253Asp)
| dbSNP |
12 | g.91055525_91055528del | CA2620149237 | KERA | c.755_758del (p.Glu252ValfsTer13)
| gnomAD v4 |
12 | g.91055524_91055534delinsCCCTCATCTGA | CA2054259653 | KERA | c.748_758delinsTCAGATGAGGG (p.Ser250=)
| |
12 | g.91055525C>A | CA386013405 | KERA | c.757G>T (p.Gly253Cys)
| |
12 | g.91055525C>G | CA386013406 | KERA | c.757G>C (p.Gly253Arg)
| gnomAD v4 |
12 | g.91055525C>T | CA386013407 | KERA | c.757G>A (p.Gly253Ser)
| |
12 | g.91055526_91055535del | CA2054259655 | KERA | c.748_757del (p.Ser250ValfsTer13)
| dbSNP |
12 | g.91055526C>A | CA386013408 | KERA | c.756G>T (p.Glu252Asp)
| |
12 | g.91055526C= | CA2054259656 | KERA | c.756G= (p.Glu252=)
| |
12 | g.91055526C>G | CA386013409 | KERA | c.756G>C (p.Glu252Asp)
| |
12 | g.91055526C>T | CA241201298 | KERA | c.756G>A (p.Glu252=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055527T>A | CA386013410 | KERA | c.755A>T (p.Glu252Val)
| |
12 | g.91055527T>C | CA386013411 | KERA | c.755A>G (p.Glu252Gly)
| |
12 | g.91055527T>G | CA386013412 | KERA | c.755A>C (p.Glu252Ala)
| |
12 | g.91055528C>A | CA386013413 | KERA | c.754G>T (p.Glu252Ter)
| |
12 | g.91055528C= | CA2054259657 | KERA | c.754G= (p.Glu252=)
| |
12 | g.91055528C>G | CA386013415 | KERA | c.754G>C (p.Glu252Gln)
| |
12 | g.91055528C>T | CA386013414 | KERA | c.754G>A (p.Glu252Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055529A>C | CA386013416 | KERA | c.753T>G (p.Asp251Glu)
| |
12 | g.91055529A>G | CA481306568 | KERA | c.753T>C (p.Asp251=)
| gnomAD v4 |
12 | g.91055529A>T | CA386013417 | KERA | c.753T>A (p.Asp251Glu)
| |
12 | g.91055530T>A | CA386013418 | KERA | c.752A>T (p.Asp251Val)
| |
12 | g.91055530T>C | CA386013419 | KERA | c.752A>G (p.Asp251Gly)
| |
12 | g.91055530T>G | CA386013420 | KERA | c.752A>C (p.Asp251Ala)
| |
12 | g.91055530_91055535del | CA2620149238 | KERA | c.747_752del (p.Ser250_Asp251del)
| gnomAD v4 |
12 | g.91055531C>A | CA386013421 | KERA | c.751G>T (p.Asp251Tyr)
| COSMIC |
12 | g.91055531C= | CA2054259658 | KERA | c.751G= (p.Asp251=)
| |
12 | g.91055531C>G | CA386013422 | KERA | c.751G>C (p.Asp251His)
| COSMIC |
12 | g.91055531C>T | CA386013423 | KERA | c.751G>A (p.Asp251Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055532T>A | CA481306570 | KERA | c.750A>T (p.Ser250=)
| |
12 | g.91055532T>C | CA481306573 | KERA | c.750A>G (p.Ser250=)
| |
12 | g.91055532T>G | CA481306571 | KERA | c.750A>C (p.Ser250=)
| |
12 | g.91055533G>A | CA386013424 | KERA | c.749C>T (p.Ser250Leu)
| |
12 | g.91055533G>C | CA386013426 | KERA | c.749C>G (p.Ser250Ter)
| dbSNP |
12 | g.91055533G= | CA2054259659 | KERA | c.749C= (p.Ser250=)
| |
12 | g.91055533G>T | CA386013425 | KERA | c.749C>A (p.Ser250Ter)
| |
12 | g.91055534A= | CA2054259660 | KERA | c.748T= (p.Ser250=)
| |
12 | g.91055534A>C | CA386013427 | KERA | c.748T>G (p.Ser250Ala)
| |
12 | g.91055534A>G | CA386013429 | KERA | c.748T>C (p.Ser250Pro)
| dbSNP gnomAD v4 |
12 | g.91055534A>T | CA386013428 | KERA | c.748T>A (p.Ser250Thr)
| |
12 | g.91055535C>A | CA481306577 | KERA | c.747G>T (p.Leu249=)
| dbSNP |
12 | g.91055535C= | CA2054259661 | KERA | c.747G= (p.Leu249=)
| |
12 | g.91055535C>G | CA481306578 | KERA | c.747G>C (p.Leu249=)
| |
12 | g.91055535C>T | CA481306579 | KERA | c.747G>A (p.Leu249=)
| |
12 | g.91055536A>C | CA386013430 | KERA | c.746T>G (p.Leu249Arg)
| |
12 | g.91055536A>G | CA386013431 | KERA | c.746T>C (p.Leu249Pro)
| |
12 | g.91055536A>T | CA386013432 | KERA | c.746T>A (p.Leu249Gln)
| |
12 | g.91055537G>A | CA481306583 | KERA | c.745C>T (p.Leu249=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055537G>C | CA6716516 | KERA | c.745C>G (p.Leu249Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055537G= | CA2054259662 | KERA | c.745C= (p.Leu249=)
| |
12 | g.91055537G>T | CA386013433 | KERA | c.745C>A (p.Leu249Met)
| |
12 | g.91055538T>A | CA386013434 | KERA | c.744A>T (p.Lys248Asn)
| |
12 | g.91055538T>C | CA481306585 | KERA | c.744A>G (p.Lys248=)
| gnomAD v4 COSMIC |
12 | g.91055538T>G | CA386013435 | KERA | c.744A>C (p.Lys248Asn)
| |
12 | g.91055539T>A | CA386013436 | KERA | c.743A>T (p.Lys248Ile)
| |
12 | g.91055539T>C | CA386013437 | KERA | c.743A>G (p.Lys248Arg)
| gnomAD v4 |
12 | g.91055539T>G | CA6716517 | KERA | c.743A>C (p.Lys248Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055539T= | CA2054259663 | KERA | c.743A= (p.Lys248=)
| |
12 | g.91055540T>A | CA386013440 | KERA | c.742A>T (p.Lys248Ter)
| |
12 | g.91055540T>C | CA386013439 | KERA | c.742A>G (p.Lys248Glu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055540T>G | CA386013438 | KERA | c.742A>C (p.Lys248Gln)
| |
12 | g.91055540T= | CA2054259664 | KERA | c.742A= (p.Lys248=)
| |
12 | g.91055541G>A | CA6716519 | KERA | c.741C>T (p.Asn247=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055541G>C | CA386013441 | KERA | c.741C>G (p.Asn247Lys)
| |
12 | g.91055541G= | CA2054259665 | KERA | c.741C= (p.Asn247=)
| |
12 | g.91055541G>T | CA6716518 | KERA | c.741C>A (p.Asn247Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055542T>A | CA386013442 | KERA | c.740A>T (p.Asn247Ile)
| |
12 | g.91055542T>C | CA118319 | KERA | c.740A>G (p.Asn247Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055542T>G | CA386013443 | KERA | c.740A>C (p.Asn247Thr)
| |
12 | g.91055542T= | CA2054259666 | KERA | c.740A= (p.Asn247=)
| |
12 | g.91055543T>A | CA386013444 | KERA | c.739A>T (p.Asn247Tyr)
| |
12 | g.91055543T>C | CA386013445 | KERA | c.739A>G (p.Asn247Asp)
| ClinVar |
12 | g.91055543T>G | CA386013446 | KERA | c.739A>C (p.Asn247His)
| |
12 | g.91055544G>A | CA481306593 | KERA | c.738C>T (p.His246=)
| |
12 | g.91055544G>C | CA386013447 | KERA | c.738C>G (p.His246Gln)
| |
12 | g.91055544G>T | CA386013448 | KERA | c.738C>A (p.His246Gln)
| |
12 | g.91055545T>A | CA386013449 | KERA | c.737A>T (p.His246Leu)
| |
12 | g.91055545T>C | CA6716520 | KERA | c.737A>G (p.His246Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055545T>G | CA6716521 | KERA | c.737A>C (p.His246Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055545T= | CA2054259667 | KERA | c.737A= (p.His246=)
| |
12 | g.91055546G>A | CA386013450 | KERA | c.736C>T (p.His246Tyr)
| |
12 | g.91055546G>C | CA386013451 | KERA | c.736C>G (p.His246Asp)
| |
12 | g.91055546G>T | CA386013452 | KERA | c.736C>A (p.His246Asn)
| |
12 | g.91055547A>C | CA386013453 | KERA | c.735T>G (p.Asn245Lys)
| |
12 | g.91055547A>G | CA481306602 | KERA | c.735T>C (p.Asn245=)
| |
12 | g.91055547A>T | CA386013454 | KERA | c.735T>A (p.Asn245Lys)
| |
12 | g.91055548T>A | CA386013455 | KERA | c.734A>T (p.Asn245Ile)
| |
12 | g.91055548T>C | CA386013456 | KERA | c.734A>G (p.Asn245Ser)
| |
12 | g.91055548T>G | CA386013457 | KERA | c.734A>C (p.Asn245Thr)
| |
12 | g.91055549T>A | CA386013460 | KERA | c.733A>T (p.Asn245Tyr)
| |
12 | g.91055549T>C | CA386013459 | KERA | c.733A>G (p.Asn245Asp)
| |
12 | g.91055549T>G | CA386013458 | KERA | c.733A>C (p.Asn245His)
| |
12 | g.91055550T>A | CA481306608 | KERA | c.732A>T (p.Leu244=)
| |
12 | g.91055550T>C | CA481306609 | KERA | c.732A>G (p.Leu244=)
| |
12 | g.91055550T>G | CA481306610 | KERA | c.732A>C (p.Leu244=)
| |
12 | g.91055551A>C | CA386013461 | KERA | c.731T>G (p.Leu244Arg)
| |
12 | g.91055551A>G | CA386013462 | KERA | c.731T>C (p.Leu244Pro)
| |
12 | g.91055551A>T | CA386013463 | KERA | c.731T>A (p.Leu244Gln)
| |
12 | g.91055552G>A | CA481306613 | KERA | c.730C>T (p.Leu244=)
| gnomAD v4 |
12 | g.91055552G>C | CA386013464 | KERA | c.730C>G (p.Leu244Val)
| |
12 | g.91055552G>T | CA386013465 | KERA | c.730C>A (p.Leu244Ile)
| |
12 | g.91055553T>A | CA386013466 | KERA | c.729A>T (p.Arg243Ser)
| |
12 | g.91055553T>C | CA481306614 | KERA | c.729A>G (p.Arg243=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055553T>G | CA386013467 | KERA | c.729A>C (p.Arg243Ser)
| |
12 | g.91055553T= | CA2054259668 | KERA | c.729A= (p.Arg243=)
| |
12 | g.91055554C>A | CA386013468 | KERA | c.728G>T (p.Arg243Ile)
| |
12 | g.91055554C= | CA2054259669 | KERA | c.728G= (p.Arg243=)
| |
12 | g.91055554C>G | CA386013469 | KERA | c.728G>C (p.Arg243Thr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055554C>T | CA386013470 | KERA | c.728G>A (p.Arg243Lys)
| |
12 | g.91055555T>A | CA386013471 | KERA | c.727A>T (p.Arg243Ter)
| |
12 | g.91055555T>C | CA386013472 | KERA | c.727A>G (p.Arg243Gly)
| |
12 | g.91055555T>G | CA481306621 | KERA | c.727A>C (p.Arg243=)
| |
12 | g.91055556C>A | CA386013473 | KERA | c.726G>T (p.Leu242Phe)
| |
12 | g.91055556C>G | CA386013474 | KERA | c.726G>C (p.Leu242Phe)
| |
12 | g.91055556C>T | CA481306632 | KERA | c.726G>A (p.Leu242=)
| |
12 | g.91055556_91055557delinsCA | CA2054259670 | KERA | c.725_726delinsTG (p.Leu242=)
| |
12 | g.91055557A>C | CA386013475 | KERA | c.725T>G (p.Leu242Trp)
| |
12 | g.91055557A>G | CA386013476 | KERA | c.725T>C (p.Leu242Ser)
| |
12 | g.91055557A>T | CA386013477 | KERA | c.725T>A (p.Leu242Ter)
| |
12 | g.91055561dup | CA2620149239 | KERA | c.725dup (p.Leu242PhefsTer11)
| gnomAD v4 |
12 | g.91055561del | CA919143761 | KERA | c.725del (p.Leu242Ter)
| dbSNP gnomAD v4 |
12 | g.91055558A>C | CA386013478 | KERA | c.724T>G (p.Leu242Val)
| |
12 | g.91055558A>G | CA481306643 | KERA | c.724T>C (p.Leu242=)
| |
12 | g.91055558A>T | CA386013479 | KERA | c.724T>A (p.Leu242Met)
| |
12 | g.91055559A>C | CA386013480 | KERA | c.723T>G (p.Phe241Leu)
| |
12 | g.91055559A>G | CA481306646 | KERA | c.723T>C (p.Phe241=)
| |
12 | g.91055559A>T | CA386013481 | KERA | c.723T>A (p.Phe241Leu)
| |
12 | g.91055560A>C | CA386013482 | KERA | c.722T>G (p.Phe241Cys)
| |
12 | g.91055560A>G | CA386013483 | KERA | c.722T>C (p.Phe241Ser)
| |
12 | g.91055560A>T | CA386013484 | KERA | c.722T>A (p.Phe241Tyr)
| |
12 | g.91055560_91055570delinsAAGGCCACTTT | CA2054259671 | KERA | c.712_722delinsAAAGTGGCCTT (p.Lys238=)
| |
12 | g.91055561A>C | CA386013487 | KERA | c.721T>G (p.Phe241Val)
| gnomAD v4 |
12 | g.91055561A>G | CA386013485 | KERA | c.721T>C (p.Phe241Leu)
| |
12 | g.91055561A>T | CA386013486 | KERA | c.721T>A (p.Phe241Ile)
| |
12 | g.91055564_91055573del | CA6716522 | KERA | c.712_721del (p.Lys238PhefsTer2)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055562G>A | CA481306656 | KERA | c.720C>T (p.Ala240=)
| gnomAD v4 COSMIC |
12 | g.91055562G>C | CA481306657 | KERA | c.720C>G (p.Ala240=)
| |
12 | g.91055562G>T | CA481306659 | KERA | c.720C>A (p.Ala240=)
| |
12 | g.91055563G>A | CA6716523 | KERA | c.719C>T (p.Ala240Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055563G>C | CA386013488 | KERA | c.719C>G (p.Ala240Gly)
| dbSNP gnomAD v4 |
12 | g.91055563G= | CA2054259672 | KERA | c.719C= (p.Ala240=)
| |
12 | g.91055563G>T | CA6716524 | KERA | c.719C>A (p.Ala240Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055564C>A | CA386013489 | KERA | c.718G>T (p.Ala240Ser)
| COSMIC |
12 | g.91055564C>G | CA386013490 | KERA | c.718G>C (p.Ala240Pro)
| |
12 | g.91055564C>T | CA386013491 | KERA | c.718G>A (p.Ala240Thr)
| |
12 | g.91055565C>A | CA481306672 | KERA | c.717G>T (p.Val239=)
| |
12 | g.91055565C>G | CA481306674 | KERA | c.717G>C (p.Val239=)
| |
12 | g.91055565C>T | CA481306677 | KERA | c.717G>A (p.Val239=)
| |
12 | g.91055566A>C | CA386013492 | KERA | c.716T>G (p.Val239Gly)
| |
12 | g.91055566A>G | CA386013493 | KERA | c.716T>C (p.Val239Ala)
| |
12 | g.91055566A>T | CA386013494 | KERA | c.716T>A (p.Val239Glu)
| |
12 | g.91055567C>A | CA386013495 | KERA | c.715G>T (p.Val239Leu)
| |
12 | g.91055567C= | CA2054259673 | KERA | c.715G= (p.Val239=)
| |
12 | g.91055567C>G | CA386013496 | KERA | c.715G>C (p.Val239Leu)
| |
12 | g.91055567C>T | CA6716525 | KERA | c.715G>A (p.Val239Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055568T>A | CA386013497 | KERA | c.714A>T (p.Lys238Asn)
| |
12 | g.91055568T>C | CA481306690 | KERA | c.714A>G (p.Lys238=)
| |
12 | g.91055568T>G | CA386013498 | KERA | c.714A>C (p.Lys238Asn)
| |
12 | g.91055569T>A | CA386013499 | KERA | c.713A>T (p.Lys238Ile)
| |
12 | g.91055569T>C | CA386013500 | KERA | c.713A>G (p.Lys238Arg)
| |
12 | g.91055569T>G | CA6716526 | KERA | c.713A>C (p.Lys238Thr)
| dbSNP ExAC gnomAD v2 |
12 | g.91055569T= | CA2054259674 | KERA | c.713A= (p.Lys238=)
| |
12 | g.91055570T>A | CA386013501 | KERA | c.712A>T (p.Lys238Ter)
| |
12 | g.91055570T>C | CA386013502 | KERA | c.712A>G (p.Lys238Glu)
| |
12 | g.91055570T>G | CA386013503 | KERA | c.712A>C (p.Lys238Gln)
| |
12 | g.91055571A>C | CA481306708 | KERA | c.711T>G (p.Pro237=)
| |
12 | g.91055571A>G | CA481306706 | KERA | c.711T>C (p.Pro237=)
| |
12 | g.91055571A>T | CA481306700 | KERA | c.711T>A (p.Pro237=)
| |
12 | g.91055572G>A | CA241201317 | KERA | c.710C>T (p.Pro237Leu)
| dbSNP |
12 | g.91055572G>C | CA386013504 | KERA | c.710C>G (p.Pro237Arg)
| |
12 | g.91055572G= | CA2054259675 | KERA | c.710C= (p.Pro237=)
| |
12 | g.91055572G>T | CA386013505 | KERA | c.710C>A (p.Pro237His)
| |
12 | g.91055573G>A | CA386013506 | KERA | c.709C>T (p.Pro237Ser)
| gnomAD v4 |
12 | g.91055573G>C | CA386013508 | KERA | c.709C>G (p.Pro237Ala)
| |
12 | g.91055573G>T | CA386013507 | KERA | c.709C>A (p.Pro237Thr)
| gnomAD v4 |
12 | g.91055574A>C | CA386013509 | KERA | c.708T>G (p.Ile236Met)
| gnomAD v4 |
12 | g.91055574A>G | CA481306713 | KERA | c.708T>C (p.Ile236=)
| |
12 | g.91055574A>T | CA481306712 | KERA | c.708T>A (p.Ile236=)
| |
12 | g.91055575del | CA2620149240 | KERA | c.708del (p.Pro237LeufsTer6)
| gnomAD v4 |
12 | g.91055575A= | CA2054259676 | KERA | c.707T= (p.Ile236=)
| |
12 | g.91055575A>C | CA386013510 | KERA | c.707T>G (p.Ile236Ser)
| |
12 | g.91055575A>G | CA386013511 | KERA | c.707T>C (p.Ile236Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055575A>T | CA386013512 | KERA | c.707T>A (p.Ile236Asn)
| gnomAD v4 |
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)
| |