| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41586722_41586776delinsCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGA | CA2260086996 | KRT14 | c.59_113delinsTCGGGGGCGGCATCGGGGGCGGCTCCAGCCGCATCTCCTCCGTCCTGGCCGGAGG (p.Ile20=) | |
| 17 | g.41586723_41586776del | CA626215433 | KRT14 | c.59_112del (p.Ile20_Gly38delinsArg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41586742_41586743delinsGA | CA2260087008 | KRT14 | c.92_93delinsTC (p.Ile31=) | |
| 17 | g.41586743del | CA216994 | KRT14 | c.92del (p.Ile31ThrfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41586743A>C | CA399483593 | KRT14 | c.92T>G (p.Ile31Ser) | |
| 17 | g.41586743A>G | CA399483589 | KRT14 | c.92T>C (p.Ile31Thr) | |
| 17 | g.41586743A>T | CA399483590 | KRT14 | c.92T>A (p.Ile31Asn) | |
| 17 | g.41586744T>A | CA8562821 | KRT14 | c.91A>T (p.Ile31Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41586744T>C | CA399483596 | KRT14 | c.91A>G (p.Ile31Val) | |
| 17 | g.41586744T>G | CA399483598 | KRT14 | c.91A>C (p.Ile31Leu) | |
| 17 | g.41586744T= | CA2260087009 | KRT14 | c.91A= (p.Ile31=) | |
| 17 | g.41586745G>A | CA500205821 | KRT14 | c.90C>T (p.Arg30=) | |
| 17 | g.41586745G>C | CA500205822 | KRT14 | c.90C>G (p.Arg30=) | |
| 17 | g.41586745G>T | CA500205823 | KRT14 | c.90C>A (p.Arg30=) | |
| 17 | g.41586746C>A | CA399483601 | KRT14 | c.89G>T (p.Arg30Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41586746C= | CA2260087010 | KRT14 | c.89G= (p.Arg30=) | |
| 17 | g.41586746C>G | CA399483603 | KRT14 | c.89G>C (p.Arg30Pro) | |
| 17 | g.41586746C>T | CA8562822 | KRT14 | c.89G>A (p.Arg30His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41586747G>A | CA216988 | KRT14 | c.88C>T (p.Arg30Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41586747G>C | CA399483609 | KRT14 | c.88C>G (p.Arg30Gly) | |
| 17 | g.41586747G= | CA2260087011 | KRT14 | c.88C= (p.Arg30=) | |
| 17 | g.41586747G>T | CA399483610 | KRT14 | c.88C>A (p.Arg30Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41586748G>A | CA500205824 | KRT14 | c.87C>T (p.Ser29=) | |
| 17 | g.41586748G>C | CA399483615 | KRT14 | c.87C>G (p.Ser29Arg) | |
| 17 | g.41586748G>T | CA399483613 | KRT14 | c.87C>A (p.Ser29Arg) | |
| 17 | g.41586749C>A | CA399483618 | KRT14 | c.86G>T (p.Ser29Ile) | |
| 17 | g.41586749C>G | CA399483620 | KRT14 | c.86G>C (p.Ser29Thr) | |
| 17 | g.41586749C>T | CA399483622 | KRT14 | c.86G>A (p.Ser29Asn) | gnomAD v4 |
| 17 | g.41586750T>A | CA399483625 | KRT14 | c.85A>T (p.Ser29Cys) | |
| 17 | g.41586750T>C | CA8562823 | KRT14 | c.85A>G (p.Ser29Gly) | dbSNP ExAC gnomAD v4 |
| 17 | g.41586750T>G | CA399483629 | KRT14 | c.85A>C (p.Ser29Arg) | |
| 17 | g.41586750T= | CA2260087012 | KRT14 | c.85A= (p.Ser29=) | |
| 17 | g.41586751G>A | CA500205827 | KRT14 | c.84C>T (p.Ser28=) | dbSNP |
| 17 | g.41586751G>C | CA500205825 | KRT14 | c.84C>G (p.Ser28=) | |
| 17 | g.41586751G= | CA2260087013 | KRT14 | c.84C= (p.Ser28=) | |
| 17 | g.41586751G>T | CA500205826 | KRT14 | c.84C>A (p.Ser28=) | gnomAD v4 |
| 17 | g.41586752G>A | CA399483632 | KRT14 | c.83C>T (p.Ser28Phe) | dbSNP |
| 17 | g.41586752G>C | CA399483634 | KRT14 | c.83C>G (p.Ser28Cys) | |
| 17 | g.41586752G= | CA2260087014 | KRT14 | c.83C= (p.Ser28=) | |
| 17 | g.41586752G>T | CA8562824 | KRT14 | c.83C>A (p.Ser28Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41586753A= | CA2260087015 | KRT14 | c.82T= (p.Ser28=) | |
| 17 | g.41586753A>C | CA399483638 | KRT14 | c.82T>G (p.Ser28Ala) | |
| 17 | g.41586753A>G | CA290665666 | KRT14 | c.82T>C (p.Ser28Pro) | dbSNP gnomAD v4 |
| 17 | g.41586753A>T | CA399483639 | KRT14 | c.82T>A (p.Ser28Thr) | |
| 17 | g.41586753_41586765delinsAGCCGCCCCCGAT | CA2260087016 | KRT14 | c.70_82delinsATCGGGGGCGGCT (p.Ile24=) | |
| 17 | g.41586754G>A | CA500205828 | KRT14 | c.81C>T (p.Gly27=) | |
| 17 | g.41586754G>C | CA500205829 | KRT14 | c.81C>G (p.Gly27=) | |
| 17 | g.41586754G>T | CA500205830 | KRT14 | c.81C>A (p.Gly27=) | |
| 17 | g.41586771_41586782dup | CA8562826 | KRT14 | c.70_81dup (p.Gly27_Ser28insIleGlyGlyGly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41586771_41586782del | CA8562825 | KRT14 | c.70_81del (p.Ile24_Gly27del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |