Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.52906134T>A | CA402513653 | DCC | c.503T>A (p.Met168Lys) c.304T>A c.434T>A (p.Met145Lys) c.424T>A n.416T>A c.424T>A (n.424T>A) | |
18 | g.52906134T>C | CA127073 | DCC | c.503T>C (p.Met168Thr) c.304T>C c.434T>C (p.Met145Thr) c.424T>C n.416T>C c.424T>C (n.424T>C) | ClinVar dbSNP |
18 | g.52906134T>G | CA402513654 | DCC | c.503T>G (p.Met168Arg) c.304T>G c.434T>G (p.Met145Arg) c.424T>G n.416T>G c.424T>G (n.424T>G) | |
18 | g.52906134T= | CA2303875036 | DCC | c.503T= (p.Met168=) c.304T= c.434T= (p.Met145=) c.424T= n.416T= c.424T= (n.424T=) | |
18 | g.52906135G>A | CA402513655 | DCC | c.504G>A (p.Met168Ile) c.305G>A c.435G>A (p.Met145Ile) c.425G>A n.417G>A c.425G>A (n.425G>A) | |
18 | g.52906135G>C | CA402513656 | DCC | c.504G>C (p.Met168Ile) c.305G>C c.435G>C (p.Met145Ile) c.425G>C n.417G>C c.425G>C (n.425G>C) | |
18 | g.52906135G>T | CA402513657 | DCC | c.504G>T (p.Met168Ile) c.305G>T c.435G>T (p.Met145Ile) c.425G>T n.417G>T c.425G>T (n.425G>T) | |
18 | g.52906136C>A | CA402513658 | DCC | c.505C>A (p.Pro169Thr) c.306C>A c.436C>A (p.Pro146Thr) c.426C>A n.418C>A c.426C>A (n.426C>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.52906136C= | CA2303875037 | DCC | c.505C= (p.Pro169=) c.306C= c.436C= (p.Pro146=) c.426C= n.418C= c.426C= (n.426C=) | |
18 | g.52906136C>G | CA402513659 | DCC | c.505C>G (p.Pro169Ala) c.306C>G c.436C>G (p.Pro146Ala) c.426C>G n.418C>G c.426C>G (n.426C>G) | |
18 | g.52906136C>T | CA402513660 | DCC | c.505C>T (p.Pro169Ser) c.306C>T c.436C>T (p.Pro146Ser) c.426C>T n.418C>T c.426C>T (n.426C>T) | gnomAD v4 |
18 | g.52906137C>A | CA402513661 | DCC | c.506C>A (p.Pro169Gln) c.307C>A c.437C>A (p.Pro146Gln) c.427C>A n.419C>A c.427C>A (n.427C>A) | |
18 | g.52906137C>G | CA402513662 | DCC | c.506C>G (p.Pro169Arg) c.307C>G c.437C>G (p.Pro146Arg) c.427C>G n.419C>G c.427C>G (n.427C>G) | |
18 | g.52906137C>T | CA402513663 | DCC | c.506C>T (p.Pro169Leu) c.307C>T c.437C>T (p.Pro146Leu) c.427C>T n.419C>T c.427C>T (n.427C>T) | |
18 | g.52906138A= | CA2303875038 | DCC | c.507A= (p.Pro169=) c.308A= c.438A= (p.Pro146=) c.428A= n.420A= c.428A= (n.428A=) | |
18 | g.52906138A>C | CA503999344 | DCC | c.507A>C (p.Pro169=) c.308A>C c.438A>C (p.Pro146=) c.428A>C n.420A>C c.428A>C (n.428A>C) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.52906138A>G | CA503999342 | DCC | c.507A>G (p.Pro169=) c.308A>G c.438A>G (p.Pro146=) c.428A>G n.420A>G c.428A>G (n.428A>G) | gnomAD v4 |
18 | g.52906138A>T | CA503999343 | DCC | c.507A>T (p.Pro169=) c.308A>T c.438A>T (p.Pro146=) c.428A>T n.420A>T c.428A>T (n.428A>T) | |
18 | g.52906139A= | CA2303875039 | DCC | c.508A= (p.Thr170=) c.309A= c.439A= (p.Thr147=) c.429A= n.421A= c.429A= (n.429A=) | |
18 | g.52906139A>C | CA402513665 | DCC | c.508A>C (p.Thr170Pro) c.309A>C c.439A>C (p.Thr147Pro) c.429A>C n.421A>C c.429A>C (n.429A>C) | |
18 | g.52906139A>G | CA402513666 | DCC | c.508A>G (p.Thr170Ala) c.309A>G c.439A>G (p.Thr147Ala) c.429A>G n.421A>G c.429A>G (n.429A>G) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.52906139A>T | CA402513664 | DCC | c.508A>T (p.Thr170Ser) c.309A>T c.439A>T (p.Thr147Ser) c.429A>T n.421A>T c.429A>T (n.429A>T) | |
18 | g.52906140C>A | CA402513667 | DCC | c.509C>A (p.Thr170Lys) c.310C>A c.440C>A (p.Thr147Lys) c.430C>A n.422C>A c.430C>A (n.430C>A) | gnomAD v4 |
18 | g.52906140C= | CA2303875040 | DCC | c.509C= (p.Thr170=) c.310C= c.440C= (p.Thr147=) c.430C= n.422C= c.430C= (n.430C=) | |
18 | g.52906140C>G | CA402513668 | DCC | c.509C>G (p.Thr170Arg) c.310C>G c.440C>G (p.Thr147Arg) c.430C>G n.422C>G c.430C>G (n.430C>G) | |
18 | g.52906140C>T | CA402513669 | DCC | c.509C>T (p.Thr170Ile) c.310C>T c.440C>T (p.Thr147Ile) c.430C>T n.422C>T c.430C>T (n.430C>T) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.52906141A>C | CA503999345 | DCC | c.510A>C (p.Thr170=) c.311A>C c.441A>C (p.Thr147=) c.431A>C n.423A>C c.431A>C (n.431A>C) | |
18 | g.52906141A>G | CA503999346 | DCC | c.510A>G (p.Thr170=) c.311A>G c.441A>G (p.Thr147=) c.431A>G n.423A>G c.431A>G (n.431A>G) | |
18 | g.52906141A>T | CA503999347 | DCC | c.510A>T (p.Thr170=) c.311A>T c.441A>T (p.Thr147=) c.431A>T n.423A>T c.431A>T (n.431A>T) | |
18 | g.52906142A= | CA2303875041 | DCC | c.511A= (p.Ile171=) c.312A= c.442A= (p.Ile148=) c.432A= n.424A= c.432A= (n.432A=) | |
18 | g.52906142A>C | CA402513670 | DCC | c.511A>C (p.Ile171Leu) c.312A>C c.442A>C (p.Ile148Leu) c.432A>C n.424A>C c.432A>C (n.432A>C) | |
18 | g.52906142A>G | CA8966559 | DCC | c.511A>G (p.Ile171Val) c.312A>G c.442A>G (p.Ile148Val) c.432A>G n.424A>G c.432A>G (n.432A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.52906142A>T | CA402513671 | DCC | c.511A>T (p.Ile171Phe) c.312A>T c.442A>T (p.Ile148Phe) c.432A>T n.424A>T c.432A>T (n.432A>T) | |
18 | g.52906143T>A | CA402513672 | DCC | c.512T>A (p.Ile171Asn) c.313T>A c.443T>A (p.Ile148Asn) c.433T>A n.425T>A c.433T>A (n.433T>A) | |
18 | g.52906143T>C | CA402513673 | DCC | c.512T>C (p.Ile171Thr) c.313T>C c.443T>C (p.Ile148Thr) c.433T>C n.425T>C c.433T>C (n.433T>C) | |
18 | g.52906143T>G | CA402513674 | DCC | c.512T>G (p.Ile171Ser) c.313T>G c.443T>G (p.Ile148Ser) c.433T>G n.425T>G c.433T>G (n.433T>G) | |
18 | g.52906144C>A | CA8966561 | DCC | c.513C>A (p.Ile171=) c.314C>A c.444C>A (p.Ile148=) c.434C>A n.426C>A c.434C>A (n.434C>A) | dbSNP ExAC gnomAD v4 |
18 | g.52906144C= | CA2303875042 | DCC | c.513C= (p.Ile171=) c.314C= c.444C= (p.Ile148=) c.434C= n.426C= c.434C= (n.434C=) | |
18 | g.52906144C>G | CA402513675 | DCC | c.513C>G (p.Ile171Met) c.314C>G c.444C>G (p.Ile148Met) c.434C>G n.426C>G c.434C>G (n.434C>G) | |
18 | g.52906144C>T | CA8966560 | DCC | c.513C>T (p.Ile171=) c.314C>T c.444C>T (p.Ile148=) c.434C>T n.426C>T c.434C>T (n.434C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.52906145C>A | CA402513678 | DCC | c.514C>A (p.His172Asn) c.315C>A c.445C>A (p.His149Asn) c.435C>A n.427C>A c.435C>A (n.435C>A) | |
18 | g.52906145C>G | CA402513677 | DCC | c.514C>G (p.His172Asp) c.315C>G c.445C>G (p.His149Asp) c.435C>G n.427C>G c.435C>G (n.435C>G) | |
18 | g.52906145C>T | CA402513676 | DCC | c.514C>T (p.His172Tyr) c.315C>T c.445C>T (p.His149Tyr) c.435C>T n.427C>T c.435C>T (n.435C>T) | |
18 | g.52906146A>C | CA402513679 | DCC | c.515A>C (p.His172Pro) c.316A>C c.446A>C (p.His149Pro) c.436A>C n.428A>C c.436A>C (n.436A>C) | |
18 | g.52906146A>G | CA402513680 | DCC | c.515A>G (p.His172Arg) c.316A>G c.446A>G (p.His149Arg) c.436A>G n.428A>G c.436A>G (n.436A>G) | gnomAD v4 |
18 | g.52906146A>T | CA402513681 | DCC | c.515A>T (p.His172Leu) c.316A>T c.446A>T (p.His149Leu) c.436A>T n.428A>T c.436A>T (n.436A>T) | |
18 | g.52906147C>A | CA402513682 | DCC | c.516C>A (p.His172Gln) c.317C>A c.447C>A (p.His149Gln) c.437C>A n.429C>A c.437C>A (n.437C>A) | |
18 | g.52906147C>G | CA402513683 | DCC | c.516C>G (p.His172Gln) c.317C>G c.447C>G (p.His149Gln) c.437C>G n.429C>G c.437C>G (n.437C>G) | |
18 | g.52906147C>T | CA503999348 | DCC | c.516C>T (p.His172=) c.317C>T c.447C>T (p.His149=) c.437C>T n.429C>T c.437C>T (n.437C>T) | |
18 | g.52906148T>A | CA402513684 | DCC | c.517T>A (p.Trp173Arg) c.318T>A c.448T>A (p.Trp150Arg) c.438T>A n.430T>A c.438T>A (n.438T>A) |