Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41583672T>A | CA399476938 | KRT14 | c.932A>T (p.Glu311Val) n.382A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41583672T>C | CA399476940 | KRT14 | c.932A>G (p.Glu311Gly) n.382A>G | |
17 | g.41583672T>G | CA399476943 | KRT14 | c.932A>C (p.Glu311Ala) n.382A>C | |
17 | g.41583672T= | CA2260085510 | KRT14 | c.932A= (p.Glu311=) n.382A= | |
17 | g.41583673C>A | CA399476945 | KRT14 | c.931G>T (p.Glu311Ter) n.381G>T | |
17 | g.41583673C= | CA2260085511 | KRT14 | c.931G= (p.Glu311=) n.381G= | |
17 | g.41583673C>G | CA399476948 | KRT14 | c.931G>C (p.Glu311Gln) n.381G>C | |
17 | g.41583673C>T | CA8562560 | KRT14 | c.931G>A (p.Glu311Lys) n.381G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41583674T>A | CA500205426 | KRT14 | c.930A>T (p.Thr310=) n.380A>T | |
17 | g.41583674T>C | CA500205428 | KRT14 | c.930A>G (p.Thr310=) n.380A>G | gnomAD v4 |
17 | g.41583674T>G | CA500205427 | KRT14 | c.930A>C (p.Thr310=) n.380A>C | |
17 | g.41583675G>A | CA399476952 | KRT14 | c.929C>T (p.Thr310Ile) n.379C>T | dbSNP gnomAD v4 |
17 | g.41583675G>C | CA399476953 | KRT14 | c.929C>G (p.Thr310Arg) n.379C>G | |
17 | g.41583675G= | CA2260085512 | KRT14 | c.929C= (p.Thr310=) n.379C= | |
17 | g.41583675G>T | CA399476955 | KRT14 | c.929C>A (p.Thr310Lys) n.379C>A | |
17 | g.41583676T>A | CA399476959 | KRT14 | c.928A>T (p.Thr310Ser) n.378A>T | gnomAD v4 |
17 | g.41583676T>C | CA399476962 | KRT14 | c.928A>G (p.Thr310Ala) n.378A>G | |
17 | g.41583676T>G | CA399476963 | KRT14 | c.928A>C (p.Thr310Pro) n.378A>C | gnomAD v4 |
17 | g.41583677C>A | CA399476969 | KRT14 | c.928-1G>T (n.928-1G>T) n.378-1G>T | |
17 | g.41583677C>G | CA399476971 | KRT14 | c.928-1G>C (n.928-1G>C) n.378-1G>C | |
17 | g.41583677C>T | CA399476967 | KRT14 | c.928-1G>A (n.928-1G>A) n.378-1G>A | |
17 | g.41583678T>A | CA399476972 | KRT14 | c.928-2A>T (n.928-2A>T) n.378-2A>T | |
17 | g.41583678T>C | CA399476973 | KRT14 | c.928-2A>G (n.928-2A>G) n.378-2A>G | gnomAD v4 |
17 | g.41583678T>G | CA399476974 | KRT14 | c.928-2A>C (n.928-2A>C) n.378-2A>C | |
17 | g.41583679G>A | CA2260085513 | KRT14 | c.928-3C>T (n.928-3C>T) n.378-3C>T | dbSNP |
17 | g.41583679G>C | CA290664962 | KRT14 | c.928-3C>G (n.928-3C>G) n.378-3C>G | dbSNP |
17 | g.41583679G= | CA2260085514 | KRT14 | c.928-3C= (n.928-3C=) n.378-3C= | |
17 | g.41583679G>T | CA290664965 | KRT14 | c.928-3C>A (n.928-3C>A) n.378-3C>A | dbSNP |
17 | g.41583680del | CA2530991709 | KRT14 | c.928-4del (n.928-4del) n.378-4del | |
17 | g.41583680C= | CA2260085515 | KRT14 | c.928-4G= (n.928-4G=) n.378-4G= | |
17 | g.41583680C>T | CA772038830 | KRT14 | c.928-4G>A (n.928-4G>A) n.378-4G>A | dbSNP |
17 | g.41583681A= | CA2260085516 | KRT14 | c.928-5T= (n.928-5T=) n.378-5T= | |
17 | g.41583681A>C | CA8562561 | KRT14 | c.928-5T>G (n.928-5T>G) n.378-5T>G | dbSNP ExAC gnomAD v2 |
17 | g.41583681A>G | CA2637835054 | KRT14 | c.928-5T>C (n.928-5T>C) n.378-5T>C | gnomAD v4 |
17 | g.41583686dup | CA626215428 | KRT14 | c.928-5dup (n.928-5dup) n.378-5dup | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.41583685_41583686del | CA2637835049 | KRT14 | c.928-6_928-5del (n.928-6_928-5del) n.378-6_378-5del | gnomAD v4 |
17 | g.41583683_41583686del | CA2503376305 | KRT14 | c.928-8_928-5del (n.928-8_928-5del) n.378-8_378-5del | |
17 | g.41583682A= | CA2260085517 | KRT14 | c.928-6T= (n.928-6T=) n.378-6T= | |
17 | g.41583682A>G | CA8562562 | KRT14 | c.928-6T>C (n.928-6T>C) n.378-6T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41583683_41583688del | CA2556989846 | KRT14 | c.928-11_928-6del (n.928-11_928-6del) n.378-11_378-6del | |
17 | g.41583683A>G | CA2560988600 | KRT14 | c.928-7T>C (n.928-7T>C) n.378-7T>C | |
17 | g.41583685A>C | CA2576267614 | KRT14 | c.928-9T>G (n.928-9T>G) n.378-9T>G | ClinVar gnomAD v4 |
17 | g.41583685_41583687delinsAAG | CA2260085518 | KRT14 | c.928-11_928-9delinsCTT (n.928-11_928-9delinsCTT) n.378-11_378-9delinsCTT | |
17 | g.41583685_41583686insGC | CA2530494803 | KRT14 | c.928-10_928-9insGC (n.928-10_928-9insGC) n.378-10_378-9insGC | |
17 | g.41583689_41583690del | CA8562563 | KRT14 | c.928-11_928-10del (n.928-11_928-10del) n.378-11_378-10del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41583687del | CA2550299016 | KRT14 | c.928-11del (n.928-11del) n.378-11del | |
17 | g.41583687G>C | CA626215429 | KRT14 | c.928-11C>G (n.928-11C>G) n.378-11C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41583687G= | CA2260085519 | KRT14 | c.928-11C= (n.928-11C=) n.378-11C= | |
17 | g.41583687G>T | CA8562564 | KRT14 | c.928-11C>A (n.928-11C>A) n.378-11C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41583688del | CA2637835072 | KRT14 | c.928-12del (n.928-12del) n.378-12del | gnomAD v4 |