| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |