Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.72007534T>A | CA377144200 | CHST3 | c.503T>A (p.Ile168Asn) | |
10 | g.72007534T>C | CA377144208 | CHST3 | c.503T>C (p.Ile168Thr) | |
10 | g.72007534T>G | CA377144212 | CHST3 | c.503T>G (p.Ile168Ser) | ClinVar dbSNP |
10 | g.72007534T= | CA1918975853 | CHST3 | c.503T= (p.Ile168=) | |
10 | g.72007535C>A | CA5548107 | CHST3 | c.504C>A (p.Ile168=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.72007535C= | CA1918975856 | CHST3 | c.504C= (p.Ile168=) | |
10 | g.72007535C>G | CA5548108 | CHST3 | c.504C>G (p.Ile168Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.72007535C>T | CA5548106 | CHST3 | c.504C>T (p.Ile168=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.72007536G>A | CA377144215 | CHST3 | c.505G>A (p.Glu169Lys) | ClinVar COSMIC |
10 | g.72007536G>C | CA377144216 | CHST3 | c.505G>C (p.Glu169Gln) | |
10 | g.72007536G>T | CA377144219 | CHST3 | c.505G>T (p.Glu169Ter) | gnomAD v4 |
10 | g.72007537A>C | CA377144222 | CHST3 | c.506A>C (p.Glu169Ala) | |
10 | g.72007537A>G | CA377144223 | CHST3 | c.506A>G (p.Glu169Gly) | gnomAD v4 |
10 | g.72007537A>T | CA377144225 | CHST3 | c.506A>T (p.Glu169Val) | |
10 | g.72007538G>A | CA470283750 | CHST3 | c.507G>A (p.Glu169=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.72007538G>C | CA377144229 | CHST3 | c.507G>C (p.Glu169Asp) | |
10 | g.72007538G= | CA1918975858 | CHST3 | c.507G= (p.Glu169=) | |
10 | g.72007538G>T | CA377144232 | CHST3 | c.507G>T (p.Glu169Asp) | gnomAD v4 |
10 | g.72007539C>A | CA377144233 | CHST3 | c.508C>A (p.Arg170Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.72007539C= | CA1918975860 | CHST3 | c.508C= (p.Arg170=) | |
10 | g.72007539C>G | CA377144234 | CHST3 | c.508C>G (p.Arg170Gly) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.72007539C>T | CA209479114 | CHST3 | c.508C>T (p.Arg170Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.72007540G>A | CA377144237 | CHST3 | c.509G>A (p.Arg170His) | gnomAD v4 |
10 | g.72007540G>C | CA377144240 | CHST3 | c.509G>C (p.Arg170Pro) | |
10 | g.72007540G= | CA1918975863 | CHST3 | c.509G= (p.Arg170=) | |
10 | g.72007540G>T | CA377144241 | CHST3 | c.509G>T (p.Arg170Leu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.72007540_72007542delinsGCA | CA1918975865 | CHST3 | c.509_511delinsGCA (p.Arg170=) | |
10 | g.72007541C>A | CA470283752 | CHST3 | c.510C>A (p.Arg170=) | |
10 | g.72007541C>G | CA470283753 | CHST3 | c.510C>G (p.Arg170=) | |
10 | g.72007541C>T | CA470283754 | CHST3 | c.510C>T (p.Arg170=) | |
10 | g.72007543_72007544del | CA913189617 | CHST3 | c.512_513del (p.Thr171SerfsTer?) | ClinVar dbSNP gnomAD v4 |
10 | g.72007542A>C | CA377144244 | CHST3 | c.511A>C (p.Thr171Pro) | |
10 | g.72007542A>G | CA377144247 | CHST3 | c.511A>G (p.Thr171Ala) | |
10 | g.72007542A>T | CA377144249 | CHST3 | c.511A>T (p.Thr171Ser) | |
10 | g.72007543C>A | CA377144252 | CHST3 | c.512C>A (p.Thr171Lys) | |
10 | g.72007543C>G | CA377144257 | CHST3 | c.512C>G (p.Thr171Arg) | |
10 | g.72007543C>T | CA377144260 | CHST3 | c.512C>T (p.Thr171Ile) | |
10 | g.72007544A= | CA1918975868 | CHST3 | c.513A= (p.Thr171=) | |
10 | g.72007544A>C | CA470283755 | CHST3 | c.513A>C (p.Thr171=) | |
10 | g.72007544A>G | CA5548109 | CHST3 | c.513A>G (p.Thr171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.72007544A>T | CA470283756 | CHST3 | c.513A>T (p.Thr171=) | |
10 | g.72007545G>A | CA377144268 | CHST3 | c.514G>A (p.Val172Met) | gnomAD v4 |
10 | g.72007545G>C | CA377144270 | CHST3 | c.514G>C (p.Val172Leu) | |
10 | g.72007545G>T | CA377144269 | CHST3 | c.514G>T (p.Val172Leu) | gnomAD v4 |
10 | g.72007546T>A | CA377144272 | CHST3 | c.515T>A (p.Val172Glu) | |
10 | g.72007546T>C | CA377144275 | CHST3 | c.515T>C (p.Val172Ala) | |
10 | g.72007546T>G | CA377144280 | CHST3 | c.515T>G (p.Val172Gly) | |
10 | g.72007547G>A | CA470283757 | CHST3 | c.516G>A (p.Val172=) | |
10 | g.72007547G>C | CA470283758 | CHST3 | c.516G>C (p.Val172=) | |
10 | g.72007547G>T | CA470283759 | CHST3 | c.516G>T (p.Val172=) | gnomAD v4 |