| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.91055762G>A | CA118321 | KERA | c.520C>T (p.Gln174Ter) | ClinVar dbSNP ExAC gnomAD v4 |
| 12 | g.91055762G>C | CA386013931 | KERA | c.520C>G (p.Gln174Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.91055762G= | CA2054259870 | KERA | c.520C= (p.Gln174=) | |
| 12 | g.91055762G>T | CA386013932 | KERA | c.520C>A (p.Gln174Lys) | gnomAD v4 |
| 12 | g.91055763T>A | CA481306936 | KERA | c.519A>T (p.Leu173=) | |
| 12 | g.91055763T>C | CA481306937 | KERA | c.519A>G (p.Leu173=) | gnomAD v4 |
| 12 | g.91055763T>G | CA481306938 | KERA | c.519A>C (p.Leu173=) | |
| 12 | g.91055764A>C | CA386013935 | KERA | c.518T>G (p.Leu173Arg) | |
| 12 | g.91055764A>G | CA386013933 | KERA | c.518T>C (p.Leu173Pro) | |
| 12 | g.91055764A>T | CA386013934 | KERA | c.518T>A (p.Leu173Gln) | |
| 12 | g.91055765G>A | CA481306939 | KERA | c.517C>T (p.Leu173=) | dbSNP gnomAD v4 |
| 12 | g.91055765G>C | CA386013936 | KERA | c.517C>G (p.Leu173Val) | |
| 12 | g.91055765G= | CA2054259873 | KERA | c.517C= (p.Leu173=) | |
| 12 | g.91055765G>T | CA386013937 | KERA | c.517C>A (p.Leu173Ile) | |
| 12 | g.91055766G>A | CA481306941 | KERA | c.516C>T (p.Asp172=) | |
| 12 | g.91055766G>C | CA386013938 | KERA | c.516C>G (p.Asp172Glu) | |
| 12 | g.91055766G>T | CA386013939 | KERA | c.516C>A (p.Asp172Glu) | gnomAD v4 |
| 12 | g.91055767T>A | CA386013940 | KERA | c.515A>T (p.Asp172Val) | |
| 12 | g.91055767T>C | CA386013941 | KERA | c.515A>G (p.Asp172Gly) | COSMIC |
| 12 | g.91055767T>G | CA386013942 | KERA | c.515A>C (p.Asp172Ala) | |
| 12 | g.91055768C>A | CA386013943 | KERA | c.514G>T (p.Asp172Tyr) | |
| 12 | g.91055768C>G | CA386013944 | KERA | c.514G>C (p.Asp172His) | gnomAD v4 |
| 12 | g.91055768C>T | CA386013945 | KERA | c.514G>A (p.Asp172Asn) | |
| 12 | g.91055769A>C | CA481306942 | KERA | c.513T>G (p.Leu171=) | |
| 12 | g.91055769A>G | CA481306943 | KERA | c.513T>C (p.Leu171=) | |
| 12 | g.91055769A>T | CA481306944 | KERA | c.513T>A (p.Leu171=) | gnomAD v4 |
| 12 | g.91055770A>C | CA386013948 | KERA | c.512T>G (p.Leu171Arg) | |
| 12 | g.91055770A>G | CA386013947 | KERA | c.512T>C (p.Leu171Pro) | |
| 12 | g.91055770A>T | CA386013946 | KERA | c.512T>A (p.Leu171His) | |
| 12 | g.91055771G>A | CA386013949 | KERA | c.511C>T (p.Leu171Phe) | gnomAD v4 |
| 12 | g.91055771G>C | CA386013950 | KERA | c.511C>G (p.Leu171Val) | |
| 12 | g.91055771G>T | CA386013951 | KERA | c.511C>A (p.Leu171Ile) | |
| 12 | g.91055772A= | CA2054259875 | KERA | c.510T= (p.Leu170=) | |
| 12 | g.91055772A>C | CA481306948 | KERA | c.510T>G (p.Leu170=) | |
| 12 | g.91055772A>G | CA481306946 | KERA | c.510T>C (p.Leu170=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.91055772A>T | CA481306947 | KERA | c.510T>A (p.Leu170=) | |
| 12 | g.91055773A>C | CA386013952 | KERA | c.509T>G (p.Leu170Arg) | |
| 12 | g.91055773A>G | CA386013953 | KERA | c.509T>C (p.Leu170Pro) | |
| 12 | g.91055773A>T | CA386013954 | KERA | c.509T>A (p.Leu170His) | |
| 12 | g.91055774G>A | CA386013955 | KERA | c.508C>T (p.Leu170Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91055774G>C | CA386013956 | KERA | c.508C>G (p.Leu170Val) | |
| 12 | g.91055774G= | CA2054259881 | KERA | c.508C= (p.Leu170=) | |
| 12 | g.91055774G>T | CA386013957 | KERA | c.508C>A (p.Leu170Ile) | COSMIC |
| 12 | g.91055775G>A | CA6716558 | KERA | c.507C>T (p.Thr169=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.91055775G>C | CA481306949 | KERA | c.507C>G (p.Thr169=) | gnomAD v4 |
| 12 | g.91055775G= | CA2054259885 | KERA | c.507C= (p.Thr169=) | |
| 12 | g.91055775G>T | CA481306951 | KERA | c.507C>A (p.Thr169=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.91055776G>A | CA386013958 | KERA | c.506C>T (p.Thr169Ile) | |
| 12 | g.91055776G>C | CA386013960 | KERA | c.506C>G (p.Thr169Ser) | |
| 12 | g.91055776G>T | CA386013959 | KERA | c.506C>A (p.Thr169Asn) |