| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.91055439_91055446dup | CA6716495 | KERA | c.837_844dup (p.Ala282GlufsTer19) | dbSNP ExAC gnomAD v4 |
| 12 | g.91055442G>A | CA481306385 | KERA | c.840C>T (p.Ile280=) | |
| 12 | g.91055442G>C | CA386013243 | KERA | c.840C>G (p.Ile280Met) | |
| 12 | g.91055442G>T | CA481306384 | KERA | c.840C>A (p.Ile280=) | |
| 12 | g.91055443A>C | CA386013244 | KERA | c.839T>G (p.Ile280Ser) | |
| 12 | g.91055443A>G | CA386013245 | KERA | c.839T>C (p.Ile280Thr) | |
| 12 | g.91055443A>T | CA386013246 | KERA | c.839T>A (p.Ile280Asn) | |
| 12 | g.91055444T>A | CA386013247 | KERA | c.838A>T (p.Ile280Phe) | |
| 12 | g.91055444T>C | CA386013248 | KERA | c.838A>G (p.Ile280Val) | |
| 12 | g.91055444T>G | CA386013249 | KERA | c.838A>C (p.Ile280Leu) | |
| 12 | g.91055445T>A | CA481306387 | KERA | c.837A>T (p.Arg279=) | |
| 12 | g.91055445T>C | CA481306388 | KERA | c.837A>G (p.Arg279=) | dbSNP |
| 12 | g.91055445T>G | CA481306389 | KERA | c.837A>C (p.Arg279=) | |
| 12 | g.91055445T= | CA2054259617 | KERA | c.837A= (p.Arg279=) | |
| 12 | g.91055446C>A | CA386013251 | KERA | c.836G>T (p.Arg279Leu) | |
| 12 | g.91055446C= | CA2054259618 | KERA | c.836G= (p.Arg279=) | |
| 12 | g.91055446C>G | CA386013250 | KERA | c.836G>C (p.Arg279Pro) | |
| 12 | g.91055446C>T | CA6716496 | KERA | c.836G>A (p.Arg279Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.91055447G>A | CA144359 | KERA | c.835C>T (p.Arg279Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055447G>C | CA386013252 | KERA | c.835C>G (p.Arg279Gly) | |
| 12 | g.91055447G= | CA2054259619 | KERA | c.835C= (p.Arg279=) | |
| 12 | g.91055447G>T | CA481306393 | KERA | c.835C>A (p.Arg279=) | |
| 12 | g.91055450del | CA2620149234 | KERA | c.835del (p.Arg279GlufsTer19) | gnomAD v4 |
| 12 | g.91055448G>A | CA481306394 | KERA | c.834C>T (p.Pro278=) | gnomAD v4 |
| 12 | g.91055448G>C | CA481306396 | KERA | c.834C>G (p.Pro278=) | |
| 12 | g.91055448G>T | CA481306395 | KERA | c.834C>A (p.Pro278=) | |
| 12 | g.91055449G>A | CA386013253 | KERA | c.833C>T (p.Pro278Leu) | dbSNP |
| 12 | g.91055449G>C | CA386013254 | KERA | c.833C>G (p.Pro278Arg) | |
| 12 | g.91055449G= | CA2054259620 | KERA | c.833C= (p.Pro278=) | |
| 12 | g.91055449G>T | CA386013255 | KERA | c.833C>A (p.Pro278His) | |
| 12 | g.91055450G>A | CA6716497 | KERA | c.832C>T (p.Pro278Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.91055450G>C | CA386013256 | KERA | c.832C>G (p.Pro278Ala) | |
| 12 | g.91055450G= | CA2054259621 | KERA | c.832C= (p.Pro278=) | |
| 12 | g.91055450G>T | CA386013257 | KERA | c.832C>A (p.Pro278Thr) | |
| 12 | g.91055451A>C | CA481306398 | KERA | c.831T>G (p.Val277=) | |
| 12 | g.91055451A>G | CA481306399 | KERA | c.831T>C (p.Val277=) | |
| 12 | g.91055451A>T | CA481306400 | KERA | c.831T>A (p.Val277=) | |
| 12 | g.91055452A>C | CA386013258 | KERA | c.830T>G (p.Val277Gly) | |
| 12 | g.91055452A>G | CA386013259 | KERA | c.830T>C (p.Val277Ala) | |
| 12 | g.91055452A>T | CA386013260 | KERA | c.830T>A (p.Val277Asp) | |
| 12 | g.91055453C>A | CA6716499 | KERA | c.829G>T (p.Val277Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.91055453C= | CA2054259622 | KERA | c.829G= (p.Val277=) | |
| 12 | g.91055453C>G | CA386013261 | KERA | c.829G>C (p.Val277Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91055453C>T | CA6716498 | KERA | c.829G>A (p.Val277Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055454C>A | CA6716500 | KERA | c.828G>T (p.Lys276Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055454C= | CA2054259623 | KERA | c.828G= (p.Lys276=) | |
| 12 | g.91055454C>G | CA6716502 | KERA | c.828G>C (p.Lys276Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055454C>T | CA6716501 | KERA | c.828G>A (p.Lys276=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055455T>A | CA386013262 | KERA | c.827A>T (p.Lys276Met) | |
| 12 | g.91055455T>C | CA386013263 | KERA | c.827A>G (p.Lys276Arg) |