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.91055563G>A | CA6716523 | KERA | c.719C>T (p.Ala240Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055563G>C | CA386013488 | KERA | c.719C>G (p.Ala240Gly) | dbSNP gnomAD v4 |
12 | g.91055563G= | CA2054259672 | KERA | c.719C= (p.Ala240=) | |
12 | g.91055563G>T | CA6716524 | KERA | c.719C>A (p.Ala240Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055564C>A | CA386013489 | KERA | c.718G>T (p.Ala240Ser) | COSMIC |
12 | g.91055564C>G | CA386013490 | KERA | c.718G>C (p.Ala240Pro) | |
12 | g.91055564C>T | CA386013491 | KERA | c.718G>A (p.Ala240Thr) | |
12 | g.91055565C>A | CA481306672 | KERA | c.717G>T (p.Val239=) | |
12 | g.91055565C>G | CA481306674 | KERA | c.717G>C (p.Val239=) | |
12 | g.91055565C>T | CA481306677 | KERA | c.717G>A (p.Val239=) | |
12 | g.91055566A>C | CA386013492 | KERA | c.716T>G (p.Val239Gly) | |
12 | g.91055566A>G | CA386013493 | KERA | c.716T>C (p.Val239Ala) | |
12 | g.91055566A>T | CA386013494 | KERA | c.716T>A (p.Val239Glu) | |
12 | g.91055567C>A | CA386013495 | KERA | c.715G>T (p.Val239Leu) | |
12 | g.91055567C= | CA2054259673 | KERA | c.715G= (p.Val239=) | |
12 | g.91055567C>G | CA386013496 | KERA | c.715G>C (p.Val239Leu) | |
12 | g.91055567C>T | CA6716525 | KERA | c.715G>A (p.Val239Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055568T>A | CA386013497 | KERA | c.714A>T (p.Lys238Asn) | |
12 | g.91055568T>C | CA481306690 | KERA | c.714A>G (p.Lys238=) | |
12 | g.91055568T>G | CA386013498 | KERA | c.714A>C (p.Lys238Asn) | |
12 | g.91055569T>A | CA386013499 | KERA | c.713A>T (p.Lys238Ile) | |
12 | g.91055569T>C | CA386013500 | KERA | c.713A>G (p.Lys238Arg) | |
12 | g.91055569T>G | CA6716526 | KERA | c.713A>C (p.Lys238Thr) | dbSNP ExAC gnomAD v2 |
12 | g.91055569T= | CA2054259674 | KERA | c.713A= (p.Lys238=) | |
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) |