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