Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41583101G>A | CA500205041 | KRT14 | c.1314C>T (p.Ser438=) n.261C>T | |
17 | g.41583101G>C | CA500205045 | KRT14 | c.1314C>G (p.Ser438=) n.261C>G | |
17 | g.41583101G>T | CA500205046 | KRT14 | c.1314C>A (p.Ser438=) n.261C>A | |
17 | g.41583102G>A | CA399474873 | KRT14 | c.1313C>T (p.Ser438Phe) n.260C>T | |
17 | g.41583102G>C | CA399474874 | KRT14 | c.1313C>G (p.Ser438Cys) n.260C>G | |
17 | g.41583102G>T | CA399474877 | KRT14 | c.1313C>A (p.Ser438Tyr) n.260C>A | |
17 | g.41583103A>C | CA399474881 | KRT14 | c.1312T>G (p.Ser438Ala) n.259T>G | |
17 | g.41583103A>G | CA399474884 | KRT14 | c.1312T>C (p.Ser438Pro) n.259T>C | gnomAD v4 |
17 | g.41583103A>T | CA399474886 | KRT14 | c.1312T>A (p.Ser438Thr) n.259T>A | |
17 | g.41583104T>A | CA500205047 | KRT14 | c.1311A>T (p.Ser437=) n.258A>T | |
17 | g.41583104T>C | CA500205048 | KRT14 | c.1311A>G (p.Ser437=) n.258A>G | |
17 | g.41583104T>G | CA500205049 | KRT14 | c.1311A>C (p.Ser437=) n.258A>C | |
17 | g.41583105G>A | CA399474892 | KRT14 | c.1310C>T (p.Ser437Leu) n.257C>T | |
17 | g.41583105G>C | CA399474894 | KRT14 | c.1310C>G (p.Ser437Ter) n.257C>G | |
17 | g.41583105G>T | CA399474889 | KRT14 | c.1310C>A (p.Ser437Ter) n.257C>A | |
17 | g.41583106A>C | CA399474898 | KRT14 | c.1309T>G (p.Ser437Ala) n.256T>G | |
17 | g.41583106A>G | CA399474900 | KRT14 | c.1309T>C (p.Ser437Pro) n.256T>C | |
17 | g.41583106A>T | CA399474902 | KRT14 | c.1309T>A (p.Ser437Thr) n.256T>A | |
17 | g.41583107C>A | CA399474905 | KRT14 | c.1308G>T (p.Gln436His) n.255G>T | |
17 | g.41583107C>G | CA399474907 | KRT14 | c.1308G>C (p.Gln436His) n.255G>C | gnomAD v4 |
17 | g.41583107C>T | CA500205053 | KRT14 | c.1308G>A (p.Gln436=) n.255G>A | |
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 |