Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80112099_80118805del | CA913184762 | GAA | c.1753_2799del c.1753_*937del | |
17 | g.80113825_80119877del | CA658795277 | GAA | c.*327+459_*1543del c.2189+459_*546del | |
17 | g.80118696_80118712del | CA2640291005 | GAA | c.2690_2706del (p.Ala897GlufsTer?) c.*828_*844del (n.*828_*844del) n.643_659del | gnomAD v4 |
17 | g.80118710_80118722dup | CA10654927 | GAA | c.2704_2716dup (p.Val906AlafsTer?) c.*842_*854dup (n.*842_*854dup) n.657_669dup | ClinVar dbSNP |
17 | g.80118710_80118715del | CA2640291077 | GAA | c.2704_2709del (p.Gln902_Lys903del) c.*842_*847del (n.*842_*847del) n.657_662del | gnomAD v4 |
17 | g.80118710C>A | CA401326893 | GAA | c.2704C>A (p.Gln902Lys) c.*842C>A (n.*842C>A) n.657C>A | |
17 | g.80118710C= | CA2277818173 | GAA | c.2704C= (p.Gln902=) c.*842C= (n.*842C=) n.657C= | |
17 | g.80118710C>G | CA401326898 | GAA | c.2704C>G (p.Gln902Glu) c.*842C>G (n.*842C>G) n.657C>G | |
17 | g.80118710C>T | CA16041908 | GAA | c.2704C>T (p.Gln902Ter) c.*842C>T (n.*842C>T) n.657C>T | ClinVar dbSNP |
17 | g.80118710_80118713delinsCAGA | CA2277818172 | GAA | c.2704_2707delinsCAGA (p.Gln902=) c.*842_*845delinsCAGA (n.*842_*845delinsCAGA) n.657_660delinsCAGA | |
17 | g.80118711A>C | CA401326907 | GAA | c.2705A>C (p.Gln902Pro) c.*843A>C (n.*843A>C) n.658A>C | |
17 | g.80118711A>G | CA401326908 | GAA | c.2705A>G (p.Gln902Arg) c.*843A>G (n.*843A>G) n.658A>G | ClinVar gnomAD v4 |
17 | g.80118711A>T | CA401326905 | GAA | c.2705A>T (p.Gln902Leu) c.*843A>T (n.*843A>T) n.658A>T | |
17 | g.80118711_80118712delinsAG | CA2277818174 | GAA | c.2705_2706delinsAG (p.Gln902=) c.*843_*844delinsAG (n.*843_*844delinsAG) n.658_659delinsAG | |
17 | g.80118712_80118713del | CA913014074 | GAA | c.2706_2707del (p.Lys903GlyfsTer?) c.*844_*845del (n.*844_*845del) n.659_660del | |
17 | g.80118713_80118715del | CA116607 | GAA | c.2707_2709del (p.Lys903del) c.*845_*847del (n.*845_*847del) n.660_662del | ClinVar dbSNP gnomAD v4 |
17 | g.80118712del | CA658795297 | GAA | c.2706del (p.Lys903ArgfsTer2) c.*844del (n.*844del) n.659del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80118712G>A | CA502168776 | GAA | c.2706G>A (p.Gln902=) c.*844G>A (n.*844G>A) n.659G>A | ClinVar dbSNP gnomAD v4 |
17 | g.80118712G>C | CA401326911 | GAA | c.2706G>C (p.Gln902His) c.*844G>C (n.*844G>C) n.659G>C | |
17 | g.80118712G= | CA2277818175 | GAA | c.2706G= (p.Gln902=) c.*844G= (n.*844G=) n.659G= | |
17 | g.80118712G>T | CA401326914 | GAA | c.2706G>T (p.Gln902His) c.*844G>T (n.*844G>T) n.659G>T | |
17 | g.80118713A= | CA2277818176 | GAA | c.2707A= (p.Lys903=) c.*845A= (n.*845A=) n.660A= | |
17 | g.80118713A>C | CA401326931 | GAA | c.2707A>C (p.Lys903Gln) c.*845A>C (n.*845A>C) n.660A>C | |
17 | g.80118713A>G | CA401326934 | GAA | c.2707A>G (p.Lys903Glu) c.*845A>G (n.*845A>G) n.660A>G | dbSNP gnomAD v4 |
17 | g.80118713A>T | CA401326938 | GAA | c.2707A>T (p.Lys903Ter) c.*845A>T (n.*845A>T) n.660A>T | |
17 | g.80118714A>C | CA401326943 | GAA | c.2708A>C (p.Lys903Thr) c.*846A>C (n.*846A>C) n.661A>C | |
17 | g.80118714A>G | CA401326941 | GAA | c.2708A>G (p.Lys903Arg) c.*846A>G (n.*846A>G) n.661A>G | gnomAD v4 |
17 | g.80118714A>T | CA401326942 | GAA | c.2708A>T (p.Lys903Met) c.*846A>T (n.*846A>T) n.661A>T | |
17 | g.80118715G>A | CA502168787 | GAA | c.2709G>A (p.Lys903=) c.*847G>A (n.*847G>A) n.662G>A | |
17 | g.80118715G>C | CA401326954 | GAA | c.2709G>C (p.Lys903Asn) c.*847G>C (n.*847G>C) n.662G>C | |
17 | g.80118715G>T | CA401326955 | GAA | c.2709G>T (p.Lys903Asn) c.*847G>T (n.*847G>T) n.662G>T | |
17 | g.80118716G>A | CA401326957 | GAA | c.2710G>A (p.Val904Met) c.*848G>A (n.*848G>A) n.663G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80118716G>C | CA401326959 | GAA | c.2710G>C (p.Val904Leu) c.*848G>C (n.*848G>C) n.663G>C | |
17 | g.80118716G= | CA2277818177 | GAA | c.2710G= (p.Val904=) c.*848G= (n.*848G=) n.663G= | |
17 | g.80118716G>T | CA401326961 | GAA | c.2710G>T (p.Val904Leu) c.*848G>T (n.*848G>T) n.663G>T | |
17 | g.80118717T>A | CA401326966 | GAA | c.2711T>A (p.Val904Glu) c.*849T>A (n.*849T>A) n.664T>A | |
17 | g.80118717T>C | CA401326964 | GAA | c.2711T>C (p.Val904Ala) c.*849T>C (n.*849T>C) n.664T>C | |
17 | g.80118717T>G | CA401326965 | GAA | c.2711T>G (p.Val904Gly) c.*849T>G (n.*849T>G) n.664T>G | |
17 | g.80118718G>A | CA10606025 | GAA | c.2712G>A (p.Val904=) c.*850G>A (n.*850G>A) n.665G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80118718G>C | CA502168801 | GAA | c.2712G>C (p.Val904=) c.*850G>C (n.*850G>C) n.665G>C | gnomAD v4 |
17 | g.80118718G= | CA2277818178 | GAA | c.2712G= (p.Val904=) c.*850G= (n.*850G=) n.665G= | |
17 | g.80118718G>T | CA502168800 | GAA | c.2712G>T (p.Val904=) c.*850G>T (n.*850G>T) n.665G>T | |
17 | g.80118719A>C | CA401326968 | GAA | c.2713A>C (p.Thr905Pro) c.*851A>C (n.*851A>C) n.666A>C | |
17 | g.80118719A>G | CA401326971 | GAA | c.2713A>G (p.Thr905Ala) c.*851A>G (n.*851A>G) n.666A>G | |
17 | g.80118719A>T | CA401326972 | GAA | c.2713A>T (p.Thr905Ser) c.*851A>T (n.*851A>T) n.666A>T | |
17 | g.80118720C>A | CA401326974 | GAA | c.2714C>A (p.Thr905Asn) c.*852C>A (n.*852C>A) n.667C>A | |
17 | g.80118720C>G | CA401326976 | GAA | c.2714C>G (p.Thr905Ser) c.*852C>G (n.*852C>G) n.667C>G | ClinVar |
17 | g.80118720C>T | CA401326977 | GAA | c.2714C>T (p.Thr905Ile) c.*852C>T (n.*852C>T) n.667C>T | gnomAD v4 |
17 | g.80118721T>A | CA502168810 | GAA | c.2715T>A (p.Thr905=) c.*853T>A (n.*853T>A) n.668T>A | |
17 | g.80118721T>C | CA502168813 | GAA | c.2715T>C (p.Thr905=) c.*853T>C (n.*853T>C) n.668T>C | gnomAD v4 |