| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41586643C>A | CA500205693 | KRT14 | c.192G>T (p.Gly64=) | |
| 17 | g.41586643C= | CA2260086937 | KRT14 | c.192G= (p.Gly64=) | |
| 17 | g.41586643C>G | CA500205694 | KRT14 | c.192G>C (p.Gly64=) | |
| 17 | g.41586643C>T | CA500205695 | KRT14 | c.192G>A (p.Gly64=) | dbSNP gnomAD v2 |
| 17 | g.41586644C>A | CA399483078 | KRT14 | c.191G>T (p.Gly64Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41586644C= | CA2260086939 | KRT14 | c.191G= (p.Gly64=) | |
| 17 | g.41586644C>G | CA399483080 | KRT14 | c.191G>C (p.Gly64Ala) | |
| 17 | g.41586644C>T | CA399483077 | KRT14 | c.191G>A (p.Gly64Glu) | |
| 17 | g.41586644_41586646delinsCCG | CA2260086938 | KRT14 | c.189_191delinsCGG (p.Cys63=) c.189_191delinsCGG (p.Tyr63=) | |
| 17 | g.41586645C>A | CA399483082 | KRT14 | c.190G>T (p.Gly64Trp) | gnomAD v4 |
| 17 | g.41586645C= | CA2260086940 | KRT14 | c.190G= (p.Gly64=) | |
| 17 | g.41586645C>G | CA399483086 | KRT14 | c.190G>C (p.Gly64Arg) | |
| 17 | g.41586645C>T | CA399483088 | KRT14 | c.190G>A (p.Gly64Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41586645_41586647delinsCGC | CA2260086941 | KRT14 | c.188_190delinsGCG (p.Cys63=) | |
| 17 | g.41586646_41586647del | CA8562792 | KRT14 | c.189_190del (p.Cys63TrpfsTer19) | dbSNP ExAC gnomAD v4 |
| 17 | g.41586646G>A | CA216881 | KRT14 | c.189C>T (p.Cys63=) c.189C>T (p.Tyr63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41586646G>C | CA399483092 | KRT14 | c.189C>G (p.Cys63Trp) c.189C>G (p.Tyr63Ter) | dbSNP |
| 17 | g.41586646G= | CA2260086942 | KRT14 | c.189C= (p.Cys63=) c.189C= (p.Tyr63=) | |
| 17 | g.41586646G>T | CA399483094 | KRT14 | c.189C>A (p.Cys63Ter) c.189C>A (p.Tyr63Ter) | |
| 17 | g.41586646_41586647delinsA | CA919841706 | KRT14 | c.188_189delinsT (p.Cys63LeufsTer?) | dbSNP |
| 17 | g.41586646_41586647delinsAT | CA290665654 | KRT14 | c.188_189delinsAT (p.Cys63Tyr) | dbSNP COSMIC |
| 17 | g.41586646_41586647delinsGC | CA2260086943 | KRT14 | c.188_189delinsGC (p.Cys63=) | |
| 17 | g.41586647del | CA919841707 | KRT14 | c.188del (p.Cys63SerfsTer?) | dbSNP |
| 17 | g.41586647C>A | CA399483097 | KRT14 | c.188G>T (p.Cys63Phe) | dbSNP gnomAD v4 |
| 17 | g.41586647C= | CA216879 | KRT14 | c.188G= (p.Cys63=) | |
| 17 | g.41586647C>G | CA399483101 | KRT14 | c.188G>C (p.Cys63Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41586647C>T | CA8562793 | KRT14 | c.188G>A (p.Cys63Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41586648A= | CA2260086944 | KRT14 | c.187T= (p.Cys63=) c.187T= (p.Tyr63=) | |
| 17 | g.41586648A>C | CA399483106 | KRT14 | c.187T>G (p.Cys63Gly) c.187T>G (p.Tyr63Asp) | |
| 17 | g.41586648A>G | CA399483109 | KRT14 | c.187T>C (p.Cys63Arg) c.187T>C (p.Tyr63His) | |
| 17 | g.41586648A>T | CA399483111 | KRT14 | c.187T>A (p.Cys63Ser) c.187T>A (p.Tyr63Asn) | |
| 17 | g.41586648_41586649insTA | CA2637837562 | KRT14 | c.187_188insAT (p.Cys63TyrfsTer?) c.187_188insAT (p.Gly64ThrfsTer?) | gnomAD v4 |
| 17 | g.41586648_41586649insTG | CA2637837565 | KRT14 | c.186_187insCA (p.Cys63HisfsTer?) c.186_187insCA (p.Tyr63HisfsTer?) | gnomAD v4 |
| 17 | g.41586648_41586649insTT | CA8562794 | KRT14 | c.186_187insAA (p.Cys63AsnfsTer?) c.186_187insAA (p.Tyr63AsnfsTer?) | dbSNP ExAC |
| 17 | g.41586649G>A | CA500205709 | KRT14 | c.186C>T (p.Ala62=) | |
| 17 | g.41586649G>C | CA500205713 | KRT14 | c.186C>G (p.Ala62=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41586649G= | CA2260086945 | KRT14 | c.186C= (p.Ala62=) | |
| 17 | g.41586649G>T | CA500205710 | KRT14 | c.186C>A (p.Ala62=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41586650G>A | CA399483119 | KRT14 | c.185C>T (p.Ala62Val) | dbSNP |
| 17 | g.41586650G>C | CA399483116 | KRT14 | c.185C>G (p.Ala62Gly) | |
| 17 | g.41586650G= | CA2260086946 | KRT14 | c.185C= (p.Ala62=) | |
| 17 | g.41586650G>T | CA8562795 | KRT14 | c.185C>A (p.Ala62Asp) | dbSNP ExAC gnomAD v4 |
| 17 | g.41586651C>A | CA399483122 | KRT14 | c.184G>T (p.Ala62Ser) | gnomAD v4 |
| 17 | g.41586651C>G | CA399483125 | KRT14 | c.184G>C (p.Ala62Pro) | gnomAD v4 |
| 17 | g.41586651C>T | CA399483127 | KRT14 | c.184G>A (p.Ala62Thr) | |
| 17 | g.41586652T>A | CA500205749 | KRT14 | c.183A>T (p.Gly61=) | gnomAD v3 gnomAD v4 |
| 17 | g.41586652T>C | CA8562796 | KRT14 | c.183A>G (p.Gly61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41586652T>G | CA500205750 | KRT14 | c.183A>C (p.Gly61=) | |
| 17 | g.41586652T= | CA2260086947 | KRT14 | c.183A= (p.Gly61=) | |
| 17 | g.41586653C>A | CA399483131 | KRT14 | c.182G>T (p.Gly61Val) |