| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.52519817_52519828del | CA2695216901 | KRT5 | c.472_483del (p.Asp158_Ile161del) c.142_153del (p.Asp48_Ile51del) c.367_378del (p.Asp123_Ile126del) n.570_581del | |
| 12 | g.52519815A= | CA2036540462 | KRT5 | c.482T= (p.Ile161=) c.152T= (p.Ile51=) c.377T= (p.Ile126=) n.580T= | |
| 12 | g.52519815A>C | CA216724 | KRT5 | c.482T>G (p.Ile161Ser) c.152T>G (p.Ile51Ser) c.377T>G (p.Ile126Ser) n.580T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.52519815A>G | CA384929030 | KRT5 | c.482T>C (p.Ile161Thr) c.152T>C (p.Ile51Thr) c.377T>C (p.Ile126Thr) n.580T>C | gnomAD v4 |
| 12 | g.52519815A>T | CA384929032 | KRT5 | c.482T>A (p.Ile161Asn) c.152T>A (p.Ile51Asn) c.377T>A (p.Ile126Asn) n.580T>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.52519816T>A | CA384929034 | KRT5 | c.481A>T (p.Ile161Phe) c.151A>T (p.Ile51Phe) c.376A>T (p.Ile126Phe) n.579A>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.52519816T>C | CA384929035 | KRT5 | c.481A>G (p.Ile161Val) c.151A>G (p.Ile51Val) c.376A>G (p.Ile126Val) n.579A>G | |
| 12 | g.52519816T>G | CA384929037 | KRT5 | c.481A>C (p.Ile161Leu) c.151A>C (p.Ile51Leu) c.376A>C (p.Ile126Leu) n.579A>C | gnomAD v4 |
| 12 | g.52519816T= | CA2036540463 | KRT5 | c.481A= (p.Ile161=) c.151A= (p.Ile51=) c.376A= (p.Ile126=) n.579A= | |
| 12 | g.52519817G>A | CA480070328 | KRT5 | c.480C>T (p.Ser160=) c.150C>T (p.Ser50=) c.375C>T (p.Ser125=) n.578C>T | |
| 12 | g.52519817G>C | CA384929039 | KRT5 | c.480C>G (p.Ser160Arg) c.150C>G (p.Ser50Arg) c.375C>G (p.Ser125Arg) n.578C>G | |
| 12 | g.52519817G>T | CA384929041 | KRT5 | c.480C>A (p.Ser160Arg) c.150C>A (p.Ser50Arg) c.375C>A (p.Ser125Arg) n.578C>A | |
| 12 | g.52519818C>A | CA384929043 | KRT5 | c.479G>T (p.Ser160Ile) c.149G>T (p.Ser50Ile) c.374G>T (p.Ser125Ile) n.577G>T | |
| 12 | g.52519818C>G | CA384929045 | KRT5 | c.479G>C (p.Ser160Thr) c.149G>C (p.Ser50Thr) c.374G>C (p.Ser125Thr) n.577G>C | gnomAD v3 gnomAD v4 |
| 12 | g.52519818C>T | CA384929047 | KRT5 | c.479G>A (p.Ser160Asn) c.149G>A (p.Ser50Asn) c.374G>A (p.Ser125Asn) n.577G>A | |
| 12 | g.52519819T>A | CA384929048 | KRT5 | c.478A>T (p.Ser160Cys) c.148A>T (p.Ser50Cys) c.373A>T (p.Ser125Cys) n.576A>T | |
| 12 | g.52519819T>C | CA384929050 | KRT5 | c.478A>G (p.Ser160Gly) c.148A>G (p.Ser50Gly) c.373A>G (p.Ser125Gly) n.576A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.52519819T>G | CA384929052 | KRT5 | c.478A>C (p.Ser160Arg) c.148A>C (p.Ser50Arg) c.373A>C (p.Ser125Arg) n.576A>C | |
| 12 | g.52519819T= | CA2036540464 | KRT5 | c.478A= (p.Ser160=) c.148A= (p.Ser50=) c.373A= (p.Ser125=) n.576A= | |
| 12 | g.52519820G>A | CA480070329 | KRT5 | c.477C>T (p.Pro159=) c.147C>T (p.Pro49=) c.372C>T (p.Pro124=) n.575C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.52519820G>C | CA480070330 | KRT5 | c.477C>G (p.Pro159=) c.147C>G (p.Pro49=) c.372C>G (p.Pro124=) n.575C>G | |
| 12 | g.52519820G= | CA2036540465 | KRT5 | c.477C= (p.Pro159=) c.147C= (p.Pro49=) c.372C= (p.Pro124=) n.575C= | |
| 12 | g.52519820G>T | CA480070331 | KRT5 | c.477C>A (p.Pro159=) c.147C>A (p.Pro49=) c.372C>A (p.Pro124=) n.575C>A | |
| 12 | g.52519823dup | CA645584188 | KRT5 | c.477dup (p.Ser160GlnfsTer19) c.147dup (p.Ser50GlnfsTer19) c.372dup (p.Ser125GlnfsTer19) n.575dup | COSMIC |
| 12 | g.52519821G>A | CA384929057 | KRT5 | c.476C>T (p.Pro159Leu) c.146C>T (p.Pro49Leu) c.371C>T (p.Pro124Leu) n.574C>T | |
| 12 | g.52519821G>C | CA384929054 | KRT5 | c.476C>G (p.Pro159Arg) c.146C>G (p.Pro49Arg) c.371C>G (p.Pro124Arg) n.574C>G | |
| 12 | g.52519821G>T | CA384929056 | KRT5 | c.476C>A (p.Pro159His) c.146C>A (p.Pro49His) c.371C>A (p.Pro124His) n.574C>A | |
| 12 | g.52519822G>A | CA384929060 | KRT5 | c.475C>T (p.Pro159Ser) c.145C>T (p.Pro49Ser) c.370C>T (p.Pro124Ser) n.573C>T | gnomAD v4 |
| 12 | g.52519822G>C | CA384929061 | KRT5 | c.475C>G (p.Pro159Ala) c.145C>G (p.Pro49Ala) c.370C>G (p.Pro124Ala) n.573C>G | |
| 12 | g.52519822G>T | CA384929063 | KRT5 | c.475C>A (p.Pro159Thr) c.145C>A (p.Pro49Thr) c.370C>A (p.Pro124Thr) n.573C>A | |
| 12 | g.52519823G>A | CA480070332 | KRT5 | c.474C>T (p.Asp158=) c.144C>T (p.Asp48=) c.369C>T (p.Asp123=) n.572C>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.52519823G>C | CA384929065 | KRT5 | c.474C>G (p.Asp158Glu) c.144C>G (p.Asp48Glu) c.369C>G (p.Asp123Glu) n.572C>G | |
| 12 | g.52519823G= | CA2036540466 | KRT5 | c.474C= (p.Asp158=) c.144C= (p.Asp48=) c.369C= (p.Asp123=) n.572C= | |
| 12 | g.52519823G>T | CA384929067 | KRT5 | c.474C>A (p.Asp158Glu) c.144C>A (p.Asp48Glu) c.369C>A (p.Asp123Glu) n.572C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.52519824T>A | CA216723 | KRT5 | c.473A>T (p.Asp158Val) c.143A>T (p.Asp48Val) c.368A>T (p.Asp123Val) n.571A>T | ClinVar dbSNP |
| 12 | g.52519824T>C | CA384929071 | KRT5 | c.473A>G (p.Asp158Gly) c.143A>G (p.Asp48Gly) c.368A>G (p.Asp123Gly) n.571A>G | |
| 12 | g.52519824T>G | CA384929070 | KRT5 | c.473A>C (p.Asp158Ala) c.143A>C (p.Asp48Ala) c.368A>C (p.Asp123Ala) n.571A>C | |
| 12 | g.52519824T= | CA2036540467 | KRT5 | c.473A= (p.Asp158=) c.143A= (p.Asp48=) c.368A= (p.Asp123=) n.571A= | |
| 12 | g.52519825C>A | CA16606334 | KRT5 | c.472G>T (p.Asp158Tyr) c.142G>T (p.Asp48Tyr) c.367G>T (p.Asp123Tyr) n.570G>T | ClinVar dbSNP |
| 12 | g.52519825C= | CA2036540468 | KRT5 | c.472G= (p.Asp158=) c.142G= (p.Asp48=) c.367G= (p.Asp123=) n.570G= | |
| 12 | g.52519825C>G | CA384929074 | KRT5 | c.472G>C (p.Asp158His) c.142G>C (p.Asp48His) c.367G>C (p.Asp123His) n.570G>C | |
| 12 | g.52519825C>T | CA6582840 | KRT5 | c.472G>A (p.Asp158Asn) c.142G>A (p.Asp48Asn) c.367G>A (p.Asp123Asn) n.570G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.52519826G>A | CA6582841 | KRT5 | c.471C>T (p.Ile157=) c.141C>T (p.Ile47=) c.366C>T (p.Ile122=) n.569C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.52519826G>C | CA384929076 | KRT5 | c.471C>G (p.Ile157Met) c.141C>G (p.Ile47Met) c.366C>G (p.Ile122Met) n.569C>G | |
| 12 | g.52519826G= | CA2036540469 | KRT5 | c.471C= (p.Ile157=) c.141C= (p.Ile47=) c.366C= (p.Ile122=) n.569C= | |
| 12 | g.52519826G>T | CA480070333 | KRT5 | c.471C>A (p.Ile157=) c.141C>A (p.Ile47=) c.366C>A (p.Ile122=) n.569C>A | |
| 12 | g.52519827A= | CA2036540470 | KRT5 | c.470T= (p.Ile157=) c.140T= (p.Ile47=) c.365T= (p.Ile122=) n.568T= | |
| 12 | g.52519827A>C | CA384929078 | KRT5 | c.470T>G (p.Ile157Ser) c.140T>G (p.Ile47Ser) c.365T>G (p.Ile122Ser) n.568T>G | |
| 12 | g.52519827A>G | CA384929080 | KRT5 | c.470T>C (p.Ile157Thr) c.140T>C (p.Ile47Thr) c.365T>C (p.Ile122Thr) n.568T>C | dbSNP |
| 12 | g.52519827A>T | CA384929081 | KRT5 | c.470T>A (p.Ile157Asn) c.140T>A (p.Ile47Asn) c.365T>A (p.Ile122Asn) n.568T>A |