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