Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
12 | g.91055676A= | CA2054259722 | KERA | c.606T= (p.Asn202=) | |
12 | g.91055676A>C | CA386013737 | KERA | c.606T>G (p.Asn202Lys) | |
12 | g.91055676A>G | CA481306655 | KERA | c.606T>C (p.Asn202=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055676A>T | CA386013738 | KERA | c.606T>A (p.Asn202Lys) | |
12 | g.91055677T>A | CA386013741 | KERA | c.605A>T (p.Asn202Ile) | |
12 | g.91055677T>C | CA386013740 | KERA | c.605A>G (p.Asn202Ser) | dbSNP gnomAD v4 |
12 | g.91055677T>G | CA386013739 | KERA | c.605A>C (p.Asn202Thr) | |
12 | g.91055678T>A | CA386013742 | KERA | c.604A>T (p.Asn202Tyr) | |
12 | g.91055678T>C | CA386013743 | KERA | c.604A>G (p.Asn202Asp) | |
12 | g.91055678T>G | CA386013744 | KERA | c.604A>C (p.Asn202His) | |
12 | g.91055679C>A | CA386013745 | KERA | c.603G>T (p.Lys201Asn) | |
12 | g.91055679C>G | CA386013746 | KERA | c.603G>C (p.Lys201Asn) | |
12 | g.91055679C>T | CA481306666 | KERA | c.603G>A (p.Lys201=) | |
12 | g.91055680T>A | CA386013747 | KERA | c.602A>T (p.Lys201Met) | |
12 | g.91055680T>C | CA386013748 | KERA | c.602A>G (p.Lys201Arg) | |
12 | g.91055680T>G | CA386013749 | KERA | c.602A>C (p.Lys201Thr) | |
12 | g.91055681T>A | CA386013750 | KERA | c.601A>T (p.Lys201Ter) | |
12 | g.91055681T>C | CA386013751 | KERA | c.601A>G (p.Lys201Glu) | |
12 | g.91055681T>G | CA386013752 | KERA | c.601A>C (p.Lys201Gln) | |
12 | g.91055682G>A | CA481306678 | KERA | c.600C>T (p.Ala200=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055682G>C | CA481306683 | KERA | c.600C>G (p.Ala200=) | |
12 | g.91055682G= | CA2054259723 | KERA | c.600C= (p.Ala200=) | |
12 | g.91055682G>T | CA481306680 | KERA | c.600C>A (p.Ala200=) | |
12 | g.91055683G>A | CA386013753 | KERA | c.599C>T (p.Ala200Val) | gnomAD v4 |
12 | g.91055683G>C | CA386013755 | KERA | c.599C>G (p.Ala200Gly) | |
12 | g.91055683G>T | CA386013754 | KERA | c.599C>A (p.Ala200Asp) | gnomAD v4 |
12 | g.91055684C>A | CA386013756 | KERA | c.598G>T (p.Ala200Ser) | |
12 | g.91055684C>G | CA386013757 | KERA | c.598G>C (p.Ala200Pro) | |
12 | g.91055684C>T | CA386013758 | KERA | c.598G>A (p.Ala200Thr) | |
12 | g.91055685C>A | CA386013759 | KERA | c.597G>T (p.Met199Ile) | |
12 | g.91055685C= | CA2054259729 | KERA | c.597G= (p.Met199=) | |
12 | g.91055685C>G | CA386013760 | KERA | c.597G>C (p.Met199Ile) | |
12 | g.91055685C>T | CA6716538 | KERA | c.597G>A (p.Met199Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055686A= | CA2054259735 | KERA | c.596T= (p.Met199=) | |
12 | g.91055686A>C | CA386013761 | KERA | c.596T>G (p.Met199Arg) | |
12 | g.91055686A>G | CA6716539 | KERA | c.596T>C (p.Met199Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055686A>T | CA386013762 | KERA | c.596T>A (p.Met199Lys) | |
12 | g.91055687T>A | CA386013765 | KERA | c.595A>T (p.Met199Leu) | |
12 | g.91055687T>C | CA386013764 | KERA | c.595A>G (p.Met199Val) |