Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.91055560_91055570delinsAAGGCCACTTT | CA2054259671 | KERA | c.712_722delinsAAAGTGGCCTT (p.Lys238=) | |
12 | g.91055564_91055573del | CA6716522 | KERA | c.712_721del (p.Lys238PhefsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055570T>A | CA386013501 | KERA | c.712A>T (p.Lys238Ter) | |
12 | g.91055570T>C | CA386013502 | KERA | c.712A>G (p.Lys238Glu) | |
12 | g.91055570T>G | CA386013503 | KERA | c.712A>C (p.Lys238Gln) | |
12 | g.91055571A>C | CA481306708 | KERA | c.711T>G (p.Pro237=) | |
12 | g.91055571A>G | CA481306706 | KERA | c.711T>C (p.Pro237=) | |
12 | g.91055571A>T | CA481306700 | KERA | c.711T>A (p.Pro237=) | |
12 | g.91055572G>A | CA241201317 | KERA | c.710C>T (p.Pro237Leu) | dbSNP |
12 | g.91055572G>C | CA386013504 | KERA | c.710C>G (p.Pro237Arg) | |
12 | g.91055572G= | CA2054259675 | KERA | c.710C= (p.Pro237=) | |
12 | g.91055572G>T | CA386013505 | KERA | c.710C>A (p.Pro237His) | |
12 | g.91055573G>A | CA386013506 | KERA | c.709C>T (p.Pro237Ser) | gnomAD v4 |
12 | g.91055573G>C | CA386013508 | KERA | c.709C>G (p.Pro237Ala) | |
12 | g.91055573G>T | CA386013507 | KERA | c.709C>A (p.Pro237Thr) | gnomAD v4 |
12 | g.91055574A>C | CA386013509 | KERA | c.708T>G (p.Ile236Met) | gnomAD v4 |
12 | g.91055574A>G | CA481306713 | KERA | c.708T>C (p.Ile236=) | |
12 | g.91055574A>T | CA481306712 | KERA | c.708T>A (p.Ile236=) | |
12 | g.91055575del | CA2620149240 | KERA | c.708del (p.Pro237LeufsTer6) | gnomAD v4 |
12 | g.91055575A= | CA2054259676 | KERA | c.707T= (p.Ile236=) | |
12 | g.91055575A>C | CA386013510 | KERA | c.707T>G (p.Ile236Ser) | |
12 | g.91055575A>G | CA386013511 | KERA | c.707T>C (p.Ile236Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055575A>T | CA386013512 | KERA | c.707T>A (p.Ile236Asn) | gnomAD v4 |
12 | g.91055576T>A | CA386013513 | KERA | c.706A>T (p.Ile236Phe) | |
12 | g.91055576T>C | CA386013514 | KERA | c.706A>G (p.Ile236Val) | |
12 | g.91055576T>G | CA386013515 | KERA | c.706A>C (p.Ile236Leu) | |
12 | g.91055577C>A | CA481306714 | KERA | c.705G>T (p.Val235=) | |
12 | g.91055577C>G | CA481306715 | KERA | c.705G>C (p.Val235=) | |
12 | g.91055577C>T | CA481306717 | KERA | c.705G>A (p.Val235=) | |
12 | g.91055578A= | CA2054259677 | KERA | c.704T= (p.Val235=) | |
12 | g.91055578A>C | CA241201318 | KERA | c.704T>G (p.Val235Gly) | dbSNP |
12 | g.91055578A>G | CA386013517 | KERA | c.704T>C (p.Val235Ala) | COSMIC |
12 | g.91055578A>T | CA386013516 | KERA | c.704T>A (p.Val235Glu) | |
12 | g.91055579C>A | CA386013518 | KERA | c.703G>T (p.Val235Leu) | dbSNP |
12 | g.91055579C= | CA2054259678 | KERA | c.703G= (p.Val235=) | |
12 | g.91055579C>G | CA386013520 | KERA | c.703G>C (p.Val235Leu) | |
12 | g.91055579C>T | CA386013519 | KERA | c.703G>A (p.Val235Met) | |
12 | g.91055580A>C | CA386013521 | KERA | c.702T>G (p.Asn234Lys) | |
12 | g.91055580A>G | CA481306726 | KERA | c.702T>C (p.Asn234=) | gnomAD v4 |
12 | g.91055580A>T | CA386013522 | KERA | c.702T>A (p.Asn234Lys) | gnomAD v4 |
12 | g.91055581T>A | CA386013523 | KERA | c.701A>T (p.Asn234Ile) | |
12 | g.91055581T>C | CA386013525 | KERA | c.701A>G (p.Asn234Ser) | gnomAD v4 |
12 | g.91055581T>G | CA386013524 | KERA | c.701A>C (p.Asn234Thr) | |
12 | g.91055582T>A | CA386013526 | KERA | c.700A>T (p.Asn234Tyr) | |
12 | g.91055582T>C | CA386013527 | KERA | c.700A>G (p.Asn234Asp) | |
12 | g.91055582T>G | CA386013528 | KERA | c.700A>C (p.Asn234His) | |
12 | g.91055582_91055583delinsTA | CA2054259679 | KERA | c.699_700delinsTA (p.Phe233=) | |
12 | g.91055583A>C | CA386013529 | KERA | c.699T>G (p.Phe233Leu) | |
12 | g.91055583A>G | CA481306727 | KERA | c.699T>C (p.Phe233=) | |
12 | g.91055583A>T | CA386013530 | KERA | c.699T>A (p.Phe233Leu) |