Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41583108T>A | CA399474910 | KRT14 | c.1307A>T (p.Gln436Leu) n.254A>T | |
17 | g.41583108T>C | CA399474913 | KRT14 | c.1307A>G (p.Gln436Arg) n.254A>G | |
17 | g.41583108T>G | CA399474915 | KRT14 | c.1307A>C (p.Gln436Pro) n.254A>C | |
17 | g.41583108_41583109del | CA2637834186 | KRT14 | c.1306_1307del (p.Gln436ValfsTer?) n.253_254del | gnomAD v4 |
17 | g.41583109G>A | CA399474918 | KRT14 | c.1306C>T (p.Gln436Ter) n.253C>T | |
17 | g.41583109G>C | CA399474920 | KRT14 | c.1306C>G (p.Gln436Glu) n.253C>G | |
17 | g.41583109G>T | CA399474923 | KRT14 | c.1306C>A (p.Gln436Lys) n.253C>A | |
17 | g.41583110C>A | CA500205059 | KRT14 | c.1305G>T (p.Ser435=) n.252G>T | |
17 | g.41583110C= | CA2260085217 | KRT14 | c.1305G= (p.Ser435=) n.252G= | |
17 | g.41583110C>G | CA500205060 | KRT14 | c.1305G>C (p.Ser435=) n.252G>C | gnomAD v4 |
17 | g.41583110C>T | CA8562413 | KRT14 | c.1305G>A (p.Ser435=) n.252G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41583110_41583121delinsCGATCCAGAGGA | CA2260085218 | KRT14 | c.1294_1305delinsTCCTCTGGATCG (p.Ser432=) n.241_252delinsTCCTCTGGATCG | |
17 | g.41583111G>A | CA8562416 | KRT14 | c.1304C>T (p.Ser435Leu) n.251C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.41583111G>C | CA399474931 | KRT14 | c.1304C>G (p.Ser435Trp) n.251C>G | |
17 | g.41583111G= | CA2260085219 | KRT14 | c.1304C= (p.Ser435=) n.251C= | |
17 | g.41583111G>T | CA8562415 | KRT14 | c.1304C>A (p.Ser435Ter) n.251C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41583113_41583123del | CA8562414 | KRT14 | c.1294_1304del (p.Ser432AlafsTer?) n.241_251del | dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.41583112A>C | CA399474936 | KRT14 | c.1303T>G (p.Ser435Ala) n.250T>G | |
17 | g.41583112A>G | CA399474938 | KRT14 | c.1303T>C (p.Ser435Pro) n.250T>C | |
17 | g.41583112A>T | CA399474940 | KRT14 | c.1303T>A (p.Ser435Thr) n.250T>A | |
17 | g.41583113T>A | CA500205063 | KRT14 | c.1302A>T (p.Gly434=) n.249A>T | |
17 | g.41583113T>C | CA500205064 | KRT14 | c.1302A>G (p.Gly434=) n.249A>G | gnomAD v4 |
17 | g.41583113T>G | CA500205065 | KRT14 | c.1302A>C (p.Gly434=) n.249A>C | |
17 | g.41583113T= | CA2260085220 | KRT14 | c.1302A= (p.Gly434=) n.249A= | |
17 | g.41583114C>A | CA399474943 | KRT14 | c.1301G>T (p.Gly434Val) n.248G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.41583114C= | CA2260085221 | KRT14 | c.1301G= (p.Gly434=) n.248G= | |
17 | g.41583114C>G | CA399474946 | KRT14 | c.1301G>C (p.Gly434Ala) n.248G>C | |
17 | g.41583114C>T | CA399474948 | KRT14 | c.1301G>A (p.Gly434Glu) n.248G>A | |
17 | g.41583115dup | CA290664724 | KRT14 | c.1301dup (p.Ser435IlefsTer?) n.248dup | dbSNP |
17 | g.41583115C>A | CA399474949 | KRT14 | c.1300G>T (p.Gly434Ter) n.247G>T | |
17 | g.41583115C= | CA2260085222 | KRT14 | c.1300G= (p.Gly434=) n.247G= | |
17 | g.41583115C>G | CA399474950 | KRT14 | c.1300G>C (p.Gly434Arg) n.247G>C | |
17 | g.41583115C>T | CA399474951 | KRT14 | c.1300G>A (p.Gly434Arg) n.247G>A | dbSNP COSMIC |
17 | g.41583116A>C | CA500205071 | KRT14 | c.1299T>G (p.Ser433=) n.246T>G | |
17 | g.41583116A>G | CA500205072 | KRT14 | c.1299T>C (p.Ser433=) n.246T>C | |
17 | g.41583116A>T | CA500205073 | KRT14 | c.1299T>A (p.Ser433=) n.246T>A | |
17 | g.41583117G>A | CA290664726 | KRT14 | c.1298C>T (p.Ser433Phe) n.245C>T | |
17 | g.41583117G>C | CA399474953 | KRT14 | c.1298C>G (p.Ser433Cys) n.245C>G | |
17 | g.41583117G>T | CA399474954 | KRT14 | c.1298C>A (p.Ser433Tyr) n.245C>A | |
17 | g.41583118A>C | CA399474956 | KRT14 | c.1297T>G (p.Ser433Ala) n.244T>G | |
17 | g.41583118A>G | CA399474960 | KRT14 | c.1297T>C (p.Ser433Pro) n.244T>C | |
17 | g.41583118A>T | CA399474958 | KRT14 | c.1297T>A (p.Ser433Thr) n.244T>A | |
17 | g.41583119G>A | CA500205076 | KRT14 | c.1296C>T (p.Ser432=) n.243C>T | dbSNP gnomAD v2 |
17 | g.41583119G>C | CA500205078 | KRT14 | c.1296C>G (p.Ser432=) n.243C>G | |
17 | g.41583119G= | CA2260085223 | KRT14 | c.1296C= (p.Ser432=) n.243C= | |
17 | g.41583119G>T | CA500205077 | KRT14 | c.1296C>A (p.Ser432=) n.243C>A | |
17 | g.41583120G>A | CA399474964 | KRT14 | c.1295C>T (p.Ser432Phe) n.242C>T | gnomAD v4 |
17 | g.41583120G>C | CA399474968 | KRT14 | c.1295C>G (p.Ser432Cys) n.242C>G | |
17 | g.41583120G>T | CA399474966 | KRT14 | c.1295C>A (p.Ser432Tyr) n.242C>A | |
17 | g.41583121A>C | CA399474971 | KRT14 | c.1294T>G (p.Ser432Ala) n.241T>G |