Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41586644_41586646delinsCCG | CA2260086938 | KRT14 | c.189_191delinsCGG (p.Cys63=) c.189_191delinsCGG (p.Tyr63=) | |
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.41586649_41586650insTATAAA | CA2809495486 | KRT14 | c.185_186insTTTATA (p.Ala62_Cys63insLeuTyr) c.185_186insTTTATA (p.Ala62_Tyr63insLeuTyr) | |
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) | |
17 | g.41586653C= | CA2260086948 | KRT14 | c.182G= (p.Gly61=) | |
17 | g.41586653C>G | CA399483133 | KRT14 | c.182G>C (p.Gly61Ala) | dbSNP gnomAD v4 |
17 | g.41586653C>T | CA399483134 | KRT14 | c.182G>A (p.Gly61Glu) | ClinVar gnomAD v4 COSMIC |
17 | g.41586657del | CA2637837575 | KRT14 | c.182del (p.Gly61GlufsTer?) | gnomAD v4 |
17 | g.41586654C>A | CA399483138 | KRT14 | c.181G>T (p.Gly61Ter) | |
17 | g.41586654C= | CA2260086949 | KRT14 | c.181G= (p.Gly61=) | |
17 | g.41586654C>G | CA8562797 | KRT14 | c.181G>C (p.Gly61Arg) | dbSNP ExAC |
17 | g.41586654C>T | CA399483141 | KRT14 | c.181G>A (p.Gly61Arg) | |
17 | g.41586655C>A | CA8562798 | KRT14 | c.180G>T (p.Gly60=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41586655C= | CA2260086950 | KRT14 | c.180G= (p.Gly60=) | |
17 | g.41586655C>G | CA500205751 | KRT14 | c.180G>C (p.Gly60=) |