| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161305808_161309983dup | CA10584071 | ClinVar | ||
| 1 | g.161306870T>A | CA343349672 | MPZ | c.286A>T (p.Lys96Ter) c.-303A>T (n.-303A>T) n.349A>T c.30A>T c.316A>T (p.Lys106Ter) | |
| 1 | g.161306870T>C | CA257142 | MPZ | c.286A>G (p.Lys96Glu) c.-303A>G (n.-303A>G) n.349A>G c.30A>G c.316A>G (p.Lys106Glu) | ClinVar dbSNP |
| 1 | g.161306870T>G | CA343349667 | MPZ | c.286A>C (p.Lys96Gln) c.-303A>C (n.-303A>C) n.349A>C c.30A>C c.316A>C (p.Lys106Gln) | |
| 1 | g.161306870T= | CA1141581146 | MPZ | c.286A= (p.Lys96=) c.-303A= (n.-303A=) n.349A= c.30A= c.316A= (p.Lys106=) | |
| 1 | g.161306871G>A | CA421405267 | MPZ | c.285C>T (p.Phe95=) c.-304C>T (n.-304C>T) n.348C>T c.29C>T c.315C>T (p.Phe105=) | |
| 1 | g.161306871G>C | CA343349676 | MPZ | c.285C>G (p.Phe95Leu) c.-304C>G (n.-304C>G) n.348C>G c.29C>G c.315C>G (p.Phe105Leu) | |
| 1 | g.161306871G>T | CA343349679 | MPZ | c.285C>A (p.Phe95Leu) c.-304C>A (n.-304C>A) n.348C>A c.29C>A c.315C>A (p.Phe105Leu) | |
| 1 | g.161306872A= | CA1202689762 | MPZ | c.284T= (p.Phe95=) c.-305T= (n.-305T=) n.347T= c.28T= c.314T= (p.Phe105=) | |
| 1 | g.161306872A>C | CA343349683 | MPZ | c.284T>G (p.Phe95Cys) c.-305T>G (n.-305T>G) n.347T>G c.28T>G c.314T>G (p.Phe105Cys) | |
| 1 | g.161306872A>G | CA16043801 | MPZ | c.284T>C (p.Phe95Ser) c.-305T>C (n.-305T>C) n.347T>C c.28T>C c.314T>C (p.Phe105Ser) | ClinVar dbSNP |
| 1 | g.161306872A>T | CA343349686 | MPZ | c.284T>A (p.Phe95Tyr) c.-305T>A (n.-305T>A) n.347T>A c.28T>A c.314T>A (p.Phe105Tyr) | |
| 1 | g.161306873A= | CA1202689766 | MPZ | c.283T= (p.Phe95=) c.-306T= (n.-306T=) n.346T= c.27T= c.313T= (p.Phe105=) | |
| 1 | g.161306873A>C | CA343349687 | MPZ | c.283T>G (p.Phe95Val) c.-306T>G (n.-306T>G) n.346T>G c.27T>G c.313T>G (p.Phe105Val) | |
| 1 | g.161306873A>G | CA343349688 | MPZ | c.283T>C (p.Phe95Leu) c.-306T>C (n.-306T>C) n.346T>C c.27T>C c.313T>C (p.Phe105Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161306873A>T | CA343349690 | MPZ | c.283T>A (p.Phe95Ile) c.-306T>A (n.-306T>A) n.346T>A c.27T>A c.313T>A (p.Phe105Ile) | |
| 1 | g.161306874G>A | CA421405269 | MPZ | c.282C>T (p.Thr94=) c.-307C>T (n.-307C>T) n.345C>T c.26C>T c.312C>T (p.Thr104=) | |
| 1 | g.161306874G>C | CA421405268 | MPZ | c.282C>G (p.Thr94=) c.-307C>G (n.-307C>G) n.345C>G c.26C>G c.312C>G (p.Thr104=) | |
| 1 | g.161306874G>T | CA421405270 | MPZ | c.282C>A (p.Thr94=) c.-307C>A (n.-307C>A) n.345C>A c.26C>A c.312C>A (p.Thr104=) | |
| 1 | g.161306875G>A | CA343349694 | MPZ | c.281C>T (p.Thr94Ile) c.-308C>T (n.-308C>T) n.344C>T c.25C>T c.311C>T (p.Thr104Ile) | |
| 1 | g.161306875G>C | CA343349697 | MPZ | c.281C>G (p.Thr94Ser) c.-308C>G (n.-308C>G) n.344C>G c.25C>G c.311C>G (p.Thr104Ser) | gnomAD v4 |
| 1 | g.161306875G>T | CA343349700 | MPZ | c.281C>A (p.Thr94Asn) c.-308C>A (n.-308C>A) n.344C>A c.25C>A c.311C>A (p.Thr104Asn) | |
| 1 | g.161306876T>A | CA343349704 | MPZ | c.280A>T (p.Thr94Ser) c.-309A>T (n.-309A>T) n.343A>T c.24A>T c.310A>T (p.Thr104Ser) | |
| 1 | g.161306876T>C | CA343349708 | MPZ | c.280A>G (p.Thr94Ala) c.-309A>G (n.-309A>G) n.343A>G c.24A>G c.310A>G (p.Thr104Ala) | |
| 1 | g.161306876T>G | CA343349709 | MPZ | c.280A>C (p.Thr94Pro) c.-309A>C (n.-309A>C) n.343A>C c.24A>C c.310A>C (p.Thr104Pro) | |
| 1 | g.161306877C>A | CA421405273 | MPZ | c.279G>T (p.Gly93=) c.-310G>T (n.-310G>T) n.342G>T c.23G>T c.309G>T (p.Gly103=) | gnomAD v4 |
| 1 | g.161306877C= | CA1202689773 | MPZ | c.279G= (p.Gly93=) c.-310G= (n.-310G=) n.342G= c.23G= c.309G= (p.Gly103=) | |
| 1 | g.161306877C>G | CA421405272 | MPZ | c.279G>C (p.Gly93=) c.-310G>C (n.-310G>C) n.342G>C c.23G>C c.309G>C (p.Gly103=) | |
| 1 | g.161306877C>T | CA1210188 | MPZ | c.279G>A (p.Gly93=) c.-310G>A (n.-310G>A) n.342G>A c.23G>A c.309G>A (p.Gly103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.161306878C>A | CA343349724 | MPZ | c.278G>T (p.Gly93Val) c.-311G>T (n.-311G>T) n.341G>T c.22G>T c.308G>T (p.Gly103Val) | ClinVar dbSNP |
| 1 | g.161306878C= | CA1202689778 | MPZ | c.278G= (p.Gly93=) c.-311G= (n.-311G=) n.341G= c.22G= c.308G= (p.Gly103=) | |
| 1 | g.161306878C>G | CA343349718 | MPZ | c.278G>C (p.Gly93Ala) c.-311G>C (n.-311G>C) n.341G>C c.22G>C c.308G>C (p.Gly103Ala) | ClinVar dbSNP |
| 1 | g.161306878C>T | CA16609893 | MPZ | c.278G>A (p.Gly93Glu) c.-311G>A (n.-311G>A) n.341G>A c.22G>A c.308G>A (p.Gly103Glu) | ClinVar dbSNP |
| 1 | g.161306879C>A | CA343349728 | MPZ | c.277G>T (p.Gly93Trp) c.-312G>T (n.-312G>T) n.340G>T c.21G>T c.307G>T (p.Gly103Trp) | |
| 1 | g.161306879C= | CA1202689792 | MPZ | c.277G= (p.Gly93=) c.-312G= (n.-312G=) n.340G= c.21G= c.307G= (p.Gly103=) | |
| 1 | g.161306879C>G | CA343349733 | MPZ | c.277G>C (p.Gly93Arg) c.-312G>C (n.-312G>C) n.340G>C c.21G>C c.307G>C (p.Gly103Arg) | ClinVar dbSNP |
| 1 | g.161306879C>T | CA343349737 | MPZ | c.277G>A (p.Gly93Arg) c.-312G>A (n.-312G>A) n.340G>A c.21G>A c.307G>A (p.Gly103Arg) | ClinVar dbSNP |
| 1 | g.161306880C>A | CA421405274 | MPZ | c.276G>T (p.Val92=) c.-313G>T (n.-313G>T) n.339G>T c.20G>T c.306G>T (p.Val102=) | |
| 1 | g.161306880C= | CA1202689800 | MPZ | c.276G= (p.Val92=) c.-313G= (n.-313G=) n.339G= c.20G= c.306G= (p.Val102=) | |
| 1 | g.161306880C>G | CA421405276 | MPZ | c.276G>C (p.Val92=) c.-313G>C (n.-313G>C) n.339G>C c.20G>C c.306G>C (p.Val102=) | |
| 1 | g.161306880C>T | CA421405275 | MPZ | c.276G>A (p.Val92=) c.-313G>A (n.-313G>A) n.339G>A c.20G>A c.306G>A (p.Val102=) | ClinVar dbSNP |
| 1 | g.161306881A= | CA1202689803 | MPZ | c.275T= (p.Val92=) c.-314T= (n.-314T=) n.338T= c.19T= c.305T= (p.Val102=) | |
| 1 | g.161306881A>C | CA343349740 | MPZ | c.275T>G (p.Val92Gly) c.-314T>G (n.-314T>G) n.338T>G c.19T>G c.305T>G (p.Val102Gly) | |
| 1 | g.161306881A>G | CA343349744 | MPZ | c.275T>C (p.Val92Ala) c.-314T>C (n.-314T>C) n.338T>C c.19T>C c.305T>C (p.Val102Ala) | |
| 1 | g.161306881A>T | CA343349748 | MPZ | c.275T>A (p.Val92Glu) c.-314T>A (n.-314T>A) n.338T>A c.19T>A c.305T>A (p.Val102Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.161306882C>A | CA343349752 | MPZ | c.274G>T (p.Val92Leu) c.-315G>T (n.-315G>T) n.337G>T c.18G>T c.304G>T (p.Val102Leu) | |
| 1 | g.161306882C= | CA1143538437 | MPZ | c.274G= (p.Val92=) c.-315G= (n.-315G=) n.337G= c.18G= c.304G= (p.Val102=) | |
| 1 | g.161306882C>G | CA343349756 | MPZ | c.274G>C (p.Val92Leu) c.-315G>C (n.-315G>C) n.337G>C c.18G>C c.304G>C (p.Val102Leu) | |
| 1 | g.161306882C>T | CA351456 | MPZ | c.274G>A (p.Val92Met) c.-315G>A (n.-315G>A) n.337G>A c.18G>A c.304G>A (p.Val102Met) | ClinVar dbSNP |
| 1 | g.161306883C>A | CA343349761 | MPZ | c.273G>T (p.Glu91Asp) c.-316G>T (n.-316G>T) n.336G>T c.17G>T c.303G>T (p.Glu101Asp) |