Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11426180_11426182dup | CA2582529794 | ODAD3 | c.928_930dup (p.Glu310_Lys311insGlu) c.355_357dup (p.Glu119_Lys120insGlu) c.748_750dup (p.Glu250_Lys251insGlu) c.*847_*849dup (n.*847_*849dup) c.766_768dup (p.Glu256_Lys257insGlu) c.904+24_904+26dup (n.904+24_904+26dup) | gnomAD v4 |
19 | g.11426180_11426182del | CA9212208 | ODAD3 | c.928_930del (p.Glu310del) c.355_357del (p.Glu119del) c.748_750del (p.Glu250del) c.*847_*849del (n.*847_*849del) c.766_768del (p.Glu256del) c.904+24_904+26del (n.904+24_904+26del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11426182C>A | CA170851 | ODAD3 | c.925G>T (p.Glu309Ter) c.352G>T (p.Glu118Ter) c.745G>T (p.Glu249Ter) c.*844G>T (n.*844G>T) c.763G>T (p.Glu255Ter) c.904+21G>T (n.904+21G>T) | ClinVar dbSNP |
19 | g.11426182C= | CA2322928811 | ODAD3 | c.925G= (p.Glu309=) c.352G= (p.Glu118=) c.745G= (p.Glu249=) c.*844G= (n.*844G=) c.763G= (p.Glu255=) c.904+21G= (n.904+21G=) | |
19 | g.11426182C>G | CA404122913 | ODAD3 | c.925G>C (p.Glu309Gln) c.352G>C (p.Glu118Gln) c.745G>C (p.Glu249Gln) c.*844G>C (n.*844G>C) c.763G>C (p.Glu255Gln) c.904+21G>C (n.904+21G>C) | dbSNP gnomAD v4 |
19 | g.11426182C>T | CA404122916 | ODAD3 | c.925G>A (p.Glu309Lys) c.352G>A (p.Glu118Lys) c.745G>A (p.Glu249Lys) c.*844G>A (n.*844G>A) c.763G>A (p.Glu255Lys) c.904+21G>A (n.904+21G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11426183G>A | CA9212210 | ODAD3 | c.924C>T (p.Ala308=) c.351C>T (p.Ala117=) c.744C>T (p.Ala248=) c.*843C>T (n.*843C>T) c.762C>T (p.Ala254=) c.904+20C>T (n.904+20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11426183G>C | CA505749562 | ODAD3 | c.924C>G (p.Ala308=) c.351C>G (p.Ala117=) c.744C>G (p.Ala248=) c.*843C>G (n.*843C>G) c.762C>G (p.Ala254=) c.904+20C>G (n.904+20C>G) | gnomAD v4 |
19 | g.11426183G= | CA2322928812 | ODAD3 | c.924C= (p.Ala308=) c.351C= (p.Ala117=) c.744C= (p.Ala248=) c.*843C= (n.*843C=) c.762C= (p.Ala254=) c.904+20C= (n.904+20C=) | |
19 | g.11426183G>T | CA505749564 | ODAD3 | c.924C>A (p.Ala308=) c.351C>A (p.Ala117=) c.744C>A (p.Ala248=) c.*843C>A (n.*843C>A) c.762C>A (p.Ala254=) c.904+20C>A (n.904+20C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11426184G>A | CA404122918 | ODAD3 | c.923C>T (p.Ala308Val) c.350C>T (p.Ala117Val) c.743C>T (p.Ala248Val) c.*842C>T (n.*842C>T) c.761C>T (p.Ala254Val) c.904+19C>T (n.904+19C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11426184G>C | CA404122920 | ODAD3 | c.923C>G (p.Ala308Gly) c.350C>G (p.Ala117Gly) c.743C>G (p.Ala248Gly) c.*842C>G (n.*842C>G) c.761C>G (p.Ala254Gly) c.904+19C>G (n.904+19C>G) | |
19 | g.11426184G= | CA2322928813 | ODAD3 | c.923C= (p.Ala308=) c.350C= (p.Ala117=) c.743C= (p.Ala248=) c.*842C= (n.*842C=) c.761C= (p.Ala254=) c.904+19C= (n.904+19C=) | |
19 | g.11426184G>T | CA404122922 | ODAD3 | c.923C>A (p.Ala308Asp) c.350C>A (p.Ala117Asp) c.743C>A (p.Ala248Asp) c.*842C>A (n.*842C>A) c.761C>A (p.Ala254Asp) c.904+19C>A (n.904+19C>A) | gnomAD v4 |
19 | g.11426185C>A | CA404122925 | ODAD3 | c.922G>T (p.Ala308Ser) c.349G>T (p.Ala117Ser) c.742G>T (p.Ala248Ser) c.*841G>T (n.*841G>T) c.760G>T (p.Ala254Ser) c.904+18G>T (n.904+18G>T) | |
19 | g.11426185C= | CA2322928814 | ODAD3 | c.922G= (p.Ala308=) c.349G= (p.Ala117=) c.742G= (p.Ala248=) c.*841G= (n.*841G=) c.760G= (p.Ala254=) c.904+18G= (n.904+18G=) | |
19 | g.11426185C>G | CA305334448 | ODAD3 | c.922G>C (p.Ala308Pro) c.349G>C (p.Ala117Pro) c.742G>C (p.Ala248Pro) c.*841G>C (n.*841G>C) c.760G>C (p.Ala254Pro) c.904+18G>C (n.904+18G>C) | dbSNP |
19 | g.11426185C>T | CA9212211 | ODAD3 | c.922G>A (p.Ala308Thr) c.349G>A (p.Ala117Thr) c.742G>A (p.Ala248Thr) c.*841G>A (n.*841G>A) c.760G>A (p.Ala254Thr) c.904+18G>A (n.904+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11426186G>A | CA9212212 | ODAD3 | c.921C>T (p.Arg307=) c.348C>T (p.Arg116=) c.741C>T (p.Arg247=) c.*840C>T (n.*840C>T) c.759C>T (p.Arg253=) c.904+17C>T (n.904+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11426186G>C | CA9212213 | ODAD3 | c.921C>G (p.Arg307=) c.348C>G (p.Arg116=) c.741C>G (p.Arg247=) c.*840C>G (n.*840C>G) c.759C>G (p.Arg253=) c.904+17C>G (n.904+17C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11426186G= | CA2322928815 | ODAD3 | c.921C= (p.Arg307=) c.348C= (p.Arg116=) c.741C= (p.Arg247=) c.*840C= (n.*840C=) c.759C= (p.Arg253=) c.904+17C= (n.904+17C=) | |
19 | g.11426186G>T | CA505749567 | ODAD3 | c.921C>A (p.Arg307=) c.348C>A (p.Arg116=) c.741C>A (p.Arg247=) c.*840C>A (n.*840C>A) c.759C>A (p.Arg253=) c.904+17C>A (n.904+17C>A) | |
19 | g.11426187C>A | CA404122930 | ODAD3 | c.920G>T (p.Arg307Leu) c.347G>T (p.Arg116Leu) c.740G>T (p.Arg247Leu) c.*839G>T (n.*839G>T) c.758G>T (p.Arg253Leu) c.904+16G>T (n.904+16G>T) | |
19 | g.11426187C= | CA2322928816 | ODAD3 | c.920G= (p.Arg307=) c.347G= (p.Arg116=) c.740G= (p.Arg247=) c.*839G= (n.*839G=) c.758G= (p.Arg253=) c.904+16G= (n.904+16G=) | |
19 | g.11426187C>G | CA404122931 | ODAD3 | c.920G>C (p.Arg307Pro) c.347G>C (p.Arg116Pro) c.740G>C (p.Arg247Pro) c.*839G>C (n.*839G>C) c.758G>C (p.Arg253Pro) c.904+16G>C (n.904+16G>C) | |
19 | g.11426187C>T | CA404122932 | ODAD3 | c.920G>A (p.Arg307His) c.347G>A (p.Arg116His) c.740G>A (p.Arg247His) c.*839G>A (n.*839G>A) c.758G>A (p.Arg253His) c.904+16G>A (n.904+16G>A) | dbSNP gnomAD v4 COSMIC |
19 | g.11426188G>A | CA9212214 | ODAD3 | c.919C>T (p.Arg307Cys) c.346C>T (p.Arg116Cys) c.739C>T (p.Arg247Cys) c.*838C>T (n.*838C>T) c.757C>T (p.Arg253Cys) c.904+15C>T (n.904+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11426188G>C | CA404122936 | ODAD3 | c.919C>G (p.Arg307Gly) c.346C>G (p.Arg116Gly) c.739C>G (p.Arg247Gly) c.*838C>G (n.*838C>G) c.757C>G (p.Arg253Gly) c.904+15C>G (n.904+15C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11426188G= | CA2322928817 | ODAD3 | c.919C= (p.Arg307=) c.346C= (p.Arg116=) c.739C= (p.Arg247=) c.*838C= (n.*838C=) c.757C= (p.Arg253=) c.904+15C= (n.904+15C=) | |
19 | g.11426188G>T | CA404122938 | ODAD3 | c.919C>A (p.Arg307Ser) c.346C>A (p.Arg116Ser) c.739C>A (p.Arg247Ser) c.*838C>A (n.*838C>A) c.757C>A (p.Arg253Ser) c.904+15C>A (n.904+15C>A) | |
19 | g.11426189C>A | CA404122940 | ODAD3 | c.918G>T (p.Lys306Asn) c.345G>T (p.Lys115Asn) c.738G>T (p.Lys246Asn) c.*837G>T (n.*837G>T) c.756G>T (p.Lys252Asn) c.904+14G>T (n.904+14G>T) | |
19 | g.11426189C>G | CA404122941 | ODAD3 | c.918G>C (p.Lys306Asn) c.345G>C (p.Lys115Asn) c.738G>C (p.Lys246Asn) c.*837G>C (n.*837G>C) c.756G>C (p.Lys252Asn) c.904+14G>C (n.904+14G>C) | |
19 | g.11426189C>T | CA505749568 | ODAD3 | c.918G>A (p.Lys306=) c.345G>A (p.Lys115=) c.738G>A (p.Lys246=) c.*837G>A (n.*837G>A) c.756G>A (p.Lys252=) c.904+14G>A (n.904+14G>A) | |
19 | g.11426190T>A | CA404122944 | ODAD3 | c.917A>T (p.Lys306Met) c.344A>T (p.Lys115Met) c.737A>T (p.Lys246Met) c.*836A>T (n.*836A>T) c.755A>T (p.Lys252Met) c.904+13A>T (n.904+13A>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11426190T>C | CA404122946 | ODAD3 | c.917A>G (p.Lys306Arg) c.344A>G (p.Lys115Arg) c.737A>G (p.Lys246Arg) c.*836A>G (n.*836A>G) c.755A>G (p.Lys252Arg) c.904+13A>G (n.904+13A>G) | |
19 | g.11426190T>G | CA404122948 | ODAD3 | c.917A>C (p.Lys306Thr) c.344A>C (p.Lys115Thr) c.737A>C (p.Lys246Thr) c.*836A>C (n.*836A>C) c.755A>C (p.Lys252Thr) c.904+13A>C (n.904+13A>C) | |
19 | g.11426190T= | CA2322928818 | ODAD3 | c.917A= (p.Lys306=) c.344A= (p.Lys115=) c.737A= (p.Lys246=) c.*836A= (n.*836A=) c.755A= (p.Lys252=) c.904+13A= (n.904+13A=) | |
19 | g.11426191T>A | CA404122952 | ODAD3 | c.916A>T (p.Lys306Ter) c.343A>T (p.Lys115Ter) c.736A>T (p.Lys246Ter) c.*835A>T (n.*835A>T) c.754A>T (p.Lys252Ter) c.904+12A>T (n.904+12A>T) | |
19 | g.11426191T>C | CA404122950 | ODAD3 | c.916A>G (p.Lys306Glu) c.343A>G (p.Lys115Glu) c.736A>G (p.Lys246Glu) c.*835A>G (n.*835A>G) c.754A>G (p.Lys252Glu) c.904+12A>G (n.904+12A>G) | |
19 | g.11426191T>G | CA404122951 | ODAD3 | c.916A>C (p.Lys306Gln) c.343A>C (p.Lys115Gln) c.736A>C (p.Lys246Gln) c.*835A>C (n.*835A>C) c.754A>C (p.Lys252Gln) c.904+12A>C (n.904+12A>C) | |
19 | g.11426192C>A | CA404122955 | ODAD3 | c.915G>T (p.Lys305Asn) c.342G>T (p.Lys114Asn) c.735G>T (p.Lys245Asn) c.*834G>T (n.*834G>T) c.753G>T (p.Lys251Asn) c.904+11G>T (n.904+11G>T) | |
19 | g.11426192C= | CA2322928819 | ODAD3 | c.915G= (p.Lys305=) c.342G= (p.Lys114=) c.735G= (p.Lys245=) c.*834G= (n.*834G=) c.753G= (p.Lys251=) c.904+11G= (n.904+11G=) | |
19 | g.11426192C>G | CA404122957 | ODAD3 | c.915G>C (p.Lys305Asn) c.342G>C (p.Lys114Asn) c.735G>C (p.Lys245Asn) c.*834G>C (n.*834G>C) c.753G>C (p.Lys251Asn) c.904+11G>C (n.904+11G>C) | gnomAD v4 |
19 | g.11426192C>T | CA9212215 | ODAD3 | c.915G>A (p.Lys305=) c.342G>A (p.Lys114=) c.735G>A (p.Lys245=) c.*834G>A (n.*834G>A) c.753G>A (p.Lys251=) c.904+11G>A (n.904+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11426193T>A | CA404122960 | ODAD3 | c.914A>T (p.Lys305Met) c.341A>T (p.Lys114Met) c.734A>T (p.Lys245Met) c.*833A>T (n.*833A>T) c.752A>T (p.Lys251Met) c.904+10A>T (n.904+10A>T) | |
19 | g.11426193T>C | CA9212216 | ODAD3 | c.914A>G (p.Lys305Arg) c.341A>G (p.Lys114Arg) c.734A>G (p.Lys245Arg) c.*833A>G (n.*833A>G) c.752A>G (p.Lys251Arg) c.904+10A>G (n.904+10A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11426193T>G | CA404122962 | ODAD3 | c.914A>C (p.Lys305Thr) c.341A>C (p.Lys114Thr) c.734A>C (p.Lys245Thr) c.*833A>C (n.*833A>C) c.752A>C (p.Lys251Thr) c.904+10A>C (n.904+10A>C) | |
19 | g.11426193T= | CA2322928820 | ODAD3 | c.914A= (p.Lys305=) c.341A= (p.Lys114=) c.734A= (p.Lys245=) c.*833A= (n.*833A=) c.752A= (p.Lys251=) c.904+10A= (n.904+10A=) | |
19 | g.11426194T>A | CA404122965 | ODAD3 | c.913A>T (p.Lys305Ter) c.340A>T (p.Lys114Ter) c.733A>T (p.Lys245Ter) c.*832A>T (n.*832A>T) c.751A>T (p.Lys251Ter) c.904+9A>T (n.904+9A>T) | |
19 | g.11426194T>C | CA404122967 | ODAD3 | c.913A>G (p.Lys305Glu) c.340A>G (p.Lys114Glu) c.733A>G (p.Lys245Glu) c.*832A>G (n.*832A>G) c.751A>G (p.Lys251Glu) c.904+9A>G (n.904+9A>G) | gnomAD v4 |