| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101786037_101786039del | CA6746860 | GNPTAB | c.550_552del (p.Val184del) n.344_346del c.184_186del (p.Val62del) c.469_471del (p.Val157del) c.334_336del (p.Val112del) c.-801_-799del (n.-801_-799del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101786038A= | CA2058964790 | GNPTAB | c.545T= (p.Val182=) n.339T= c.179T= (p.Val60=) c.464T= (p.Val155=) c.329T= (p.Val110=) c.-806T= (n.-806T=) | |
| 12 | g.101786038A>C | CA386304826 | GNPTAB | c.545T>G (p.Val182Gly) n.339T>G c.179T>G (p.Val60Gly) c.464T>G (p.Val155Gly) c.329T>G (p.Val110Gly) c.-806T>G (n.-806T>G) | |
| 12 | g.101786038A>G | CA386304827 | GNPTAB | c.545T>C (p.Val182Ala) n.339T>C c.179T>C (p.Val60Ala) c.464T>C (p.Val155Ala) c.329T>C (p.Val110Ala) c.-806T>C (n.-806T>C) | |
| 12 | g.101786038A>T | CA356554 | GNPTAB | c.545T>A (p.Val182Asp) n.339T>A c.179T>A (p.Val60Asp) c.464T>A (p.Val155Asp) c.329T>A (p.Val110Asp) c.-806T>A (n.-806T>A) | dbSNP gnomAD v4 |
| 12 | g.101786039C>A | CA386304830 | GNPTAB | c.544G>T (p.Val182Phe) n.338G>T c.178G>T (p.Val60Phe) c.463G>T (p.Val155Phe) c.328G>T (p.Val110Phe) c.-807G>T (n.-807G>T) | |
| 12 | g.101786039C>G | CA386304829 | GNPTAB | c.544G>C (p.Val182Leu) n.338G>C c.178G>C (p.Val60Leu) c.463G>C (p.Val155Leu) c.328G>C (p.Val110Leu) c.-807G>C (n.-807G>C) | |
| 12 | g.101786039C>T | CA386304828 | GNPTAB | c.544G>A (p.Val182Ile) n.338G>A c.178G>A (p.Val60Ile) c.463G>A (p.Val155Ile) c.328G>A (p.Val110Ile) c.-807G>A (n.-807G>A) | gnomAD v4 |
| 12 | g.101786040T>A | CA481326194 | GNPTAB | c.543A>T (p.Ser181=) n.337A>T c.177A>T (p.Ser59=) c.462A>T (p.Ser154=) c.327A>T (p.Ser109=) c.-808A>T (n.-808A>T) | ClinVar dbSNP |
| 12 | g.101786040T>C | CA481326195 | GNPTAB | c.543A>G (p.Ser181=) n.337A>G c.177A>G (p.Ser59=) c.462A>G (p.Ser154=) c.327A>G (p.Ser109=) c.-808A>G (n.-808A>G) | gnomAD v4 |
| 12 | g.101786040T>G | CA481326196 | GNPTAB | c.543A>C (p.Ser181=) n.337A>C c.177A>C (p.Ser59=) c.462A>C (p.Ser154=) c.327A>C (p.Ser109=) c.-808A>C (n.-808A>C) | ClinVar |
| 12 | g.101786041G>A | CA6746861 | GNPTAB | c.542C>T (p.Ser181Leu) n.336C>T c.176C>T (p.Ser59Leu) c.461C>T (p.Ser154Leu) c.326C>T (p.Ser109Leu) c.-809C>T (n.-809C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101786041G>C | CA386304831 | GNPTAB | c.542C>G (p.Ser181Ter) n.336C>G c.176C>G (p.Ser59Ter) c.461C>G (p.Ser154Ter) c.326C>G (p.Ser109Ter) c.-809C>G (n.-809C>G) | ClinVar dbSNP |
| 12 | g.101786041G= | CA2058964791 | GNPTAB | c.542C= (p.Ser181=) n.336C= c.176C= (p.Ser59=) c.461C= (p.Ser154=) c.326C= (p.Ser109=) c.-809C= (n.-809C=) | |
| 12 | g.101786041G>T | CA386304832 | GNPTAB | c.542C>A (p.Ser181Ter) n.336C>A c.176C>A (p.Ser59Ter) c.461C>A (p.Ser154Ter) c.326C>A (p.Ser109Ter) c.-809C>A (n.-809C>A) | |
| 12 | g.101786042A= | CA2058964792 | GNPTAB | c.541T= (p.Ser181=) n.335T= c.175T= (p.Ser59=) c.460T= (p.Ser154=) c.325T= (p.Ser109=) c.-810T= (n.-810T=) | |
| 12 | g.101786042A>C | CA386304833 | GNPTAB | c.541T>G (p.Ser181Ala) n.335T>G c.175T>G (p.Ser59Ala) c.460T>G (p.Ser154Ala) c.325T>G (p.Ser109Ala) c.-810T>G (n.-810T>G) | |
| 12 | g.101786042A>G | CA386304834 | GNPTAB | c.541T>C (p.Ser181Pro) n.335T>C c.175T>C (p.Ser59Pro) c.460T>C (p.Ser154Pro) c.325T>C (p.Ser109Pro) c.-810T>C (n.-810T>C) | |
| 12 | g.101786042A>T | CA386304835 | GNPTAB | c.541T>A (p.Ser181Thr) n.335T>A c.175T>A (p.Ser59Thr) c.460T>A (p.Ser154Thr) c.325T>A (p.Ser109Thr) c.-810T>A (n.-810T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101786043G>A | CA481326198 | GNPTAB | c.540C>T (p.Val180=) n.334C>T c.174C>T (p.Val58=) c.459C>T (p.Val153=) c.324C>T (p.Val108=) c.-811C>T (n.-811C>T) | |
| 12 | g.101786043G>C | CA481326199 | GNPTAB | c.540C>G (p.Val180=) n.334C>G c.174C>G (p.Val58=) c.459C>G (p.Val153=) c.324C>G (p.Val108=) c.-811C>G (n.-811C>G) | |
| 12 | g.101786043G>T | CA481326200 | GNPTAB | c.540C>A (p.Val180=) n.334C>A c.174C>A (p.Val58=) c.459C>A (p.Val153=) c.324C>A (p.Val108=) c.-811C>A (n.-811C>A) | |
| 12 | g.101786044A= | CA2058964793 | GNPTAB | c.539T= (p.Val180=) n.333T= c.173T= (p.Val58=) c.458T= (p.Val153=) c.323T= (p.Val108=) c.-812T= (n.-812T=) | |
| 12 | g.101786044A>C | CA386304836 | GNPTAB | c.539T>G (p.Val180Gly) n.333T>G c.173T>G (p.Val58Gly) c.458T>G (p.Val153Gly) c.323T>G (p.Val108Gly) c.-812T>G (n.-812T>G) | |
| 12 | g.101786044A>G | CA242473328 | GNPTAB | c.539T>C (p.Val180Ala) n.333T>C c.173T>C (p.Val58Ala) c.458T>C (p.Val153Ala) c.323T>C (p.Val108Ala) c.-812T>C (n.-812T>C) | dbSNP |
| 12 | g.101786044A>T | CA386304837 | GNPTAB | c.539T>A (p.Val180Asp) n.333T>A c.173T>A (p.Val58Asp) c.458T>A (p.Val153Asp) c.323T>A (p.Val108Asp) c.-812T>A (n.-812T>A) | |
| 12 | g.101786045C>A | CA386304838 | GNPTAB | c.538G>T (p.Val180Phe) n.332G>T c.172G>T (p.Val58Phe) c.457G>T (p.Val153Phe) c.322G>T (p.Val108Phe) c.-813G>T (n.-813G>T) | |
| 12 | g.101786045C>G | CA386304839 | GNPTAB | c.538G>C (p.Val180Leu) n.332G>C c.172G>C (p.Val58Leu) c.457G>C (p.Val153Leu) c.322G>C (p.Val108Leu) c.-813G>C (n.-813G>C) | |
| 12 | g.101786045C>T | CA386304840 | GNPTAB | c.538G>A (p.Val180Ile) n.332G>A c.172G>A (p.Val58Ile) c.457G>A (p.Val153Ile) c.322G>A (p.Val108Ile) c.-813G>A (n.-813G>A) | |
| 12 | g.101786046A= | CA2058964794 | GNPTAB | c.537T= (p.Asn179=) n.331T= c.171T= (p.Asn57=) c.456T= (p.Asn152=) c.321T= (p.Asn107=) c.-814T= (n.-814T=) | |
| 12 | g.101786046A>C | CA386304841 | GNPTAB | c.537T>G (p.Asn179Lys) n.331T>G c.171T>G (p.Asn57Lys) c.456T>G (p.Asn152Lys) c.321T>G (p.Asn107Lys) c.-814T>G (n.-814T>G) | |
| 12 | g.101786046A>G | CA481326203 | GNPTAB | c.537T>C (p.Asn179=) n.331T>C c.171T>C (p.Asn57=) c.456T>C (p.Asn152=) c.321T>C (p.Asn107=) c.-814T>C (n.-814T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101786046A>T | CA386304842 | GNPTAB | c.537T>A (p.Asn179Lys) n.331T>A c.171T>A (p.Asn57Lys) c.456T>A (p.Asn152Lys) c.321T>A (p.Asn107Lys) c.-814T>A (n.-814T>A) | |
| 12 | g.101786047T>A | CA386304843 | GNPTAB | c.536A>T (p.Asn179Ile) n.330A>T c.170A>T (p.Asn57Ile) c.455A>T (p.Asn152Ile) c.320A>T (p.Asn107Ile) c.-815A>T (n.-815A>T) | |
| 12 | g.101786047T>C | CA386304844 | GNPTAB | c.536A>G (p.Asn179Ser) n.330A>G c.170A>G (p.Asn57Ser) c.455A>G (p.Asn152Ser) c.320A>G (p.Asn107Ser) c.-815A>G (n.-815A>G) | gnomAD v4 |
| 12 | g.101786047T>G | CA386304845 | GNPTAB | c.536A>C (p.Asn179Thr) n.330A>C c.170A>C (p.Asn57Thr) c.455A>C (p.Asn152Thr) c.320A>C (p.Asn107Thr) c.-815A>C (n.-815A>C) | |
| 12 | g.101786048del | CA2620445685 | GNPTAB | c.536del (p.Asn179MetfsTer?) n.330del c.170del (p.Asn57MetfsTer?) c.455del (p.Asn152MetfsTer?) c.320del (p.Asn107MetfsTer?) c.-815del (n.-815del) | gnomAD v4 |
| 12 | g.101786048T>A | CA386304846 | GNPTAB | c.535A>T (p.Asn179Tyr) n.329A>T c.169A>T (p.Asn57Tyr) c.454A>T (p.Asn152Tyr) c.319A>T (p.Asn107Tyr) c.-816A>T (n.-816A>T) | |
| 12 | g.101786048T>C | CA386304847 | GNPTAB | c.535A>G (p.Asn179Asp) n.329A>G c.169A>G (p.Asn57Asp) c.454A>G (p.Asn152Asp) c.319A>G (p.Asn107Asp) c.-816A>G (n.-816A>G) | |
| 12 | g.101786048T>G | CA386304848 | GNPTAB | c.535A>C (p.Asn179His) n.329A>C c.169A>C (p.Asn57His) c.454A>C (p.Asn152His) c.319A>C (p.Asn107His) c.-816A>C (n.-816A>C) | gnomAD v4 |
| 12 | g.101786049G>A | CA481326205 | GNPTAB | c.534C>T (p.Thr178=) n.328C>T c.168C>T (p.Thr56=) c.453C>T (p.Thr151=) c.318C>T (p.Thr106=) c.-817C>T (n.-817C>T) | dbSNP |
| 12 | g.101786049G>C | CA6746862 | GNPTAB | c.534C>G (p.Thr178=) n.328C>G c.168C>G (p.Thr56=) c.453C>G (p.Thr151=) c.318C>G (p.Thr106=) c.-817C>G (n.-817C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101786049G= | CA2058964795 | GNPTAB | c.534C= (p.Thr178=) n.328C= c.168C= (p.Thr56=) c.453C= (p.Thr151=) c.318C= (p.Thr106=) c.-817C= (n.-817C=) | |
| 12 | g.101786049G>T | CA481326206 | GNPTAB | c.534C>A (p.Thr178=) n.328C>A c.168C>A (p.Thr56=) c.453C>A (p.Thr151=) c.318C>A (p.Thr106=) c.-817C>A (n.-817C>A) | |
| 12 | g.101786050G>A | CA6746864 | GNPTAB | c.533C>T (p.Thr178Ile) n.327C>T c.167C>T (p.Thr56Ile) c.452C>T (p.Thr151Ile) c.317C>T (p.Thr106Ile) c.-818C>T (n.-818C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101786050G>C | CA6746863 | GNPTAB | c.533C>G (p.Thr178Ser) n.327C>G c.167C>G (p.Thr56Ser) c.452C>G (p.Thr151Ser) c.317C>G (p.Thr106Ser) c.-818C>G (n.-818C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101786050G= | CA2058964796 | GNPTAB | c.533C= (p.Thr178=) n.327C= c.167C= (p.Thr56=) c.452C= (p.Thr151=) c.317C= (p.Thr106=) c.-818C= (n.-818C=) | |
| 12 | g.101786050G>T | CA386304849 | GNPTAB | c.533C>A (p.Thr178Asn) n.327C>A c.167C>A (p.Thr56Asn) c.452C>A (p.Thr151Asn) c.317C>A (p.Thr106Asn) c.-818C>A (n.-818C>A) | |
| 12 | g.101786051T>A | CA386304850 | GNPTAB | c.532A>T (p.Thr178Ser) n.326A>T c.166A>T (p.Thr56Ser) c.451A>T (p.Thr151Ser) c.316A>T (p.Thr106Ser) c.-819A>T (n.-819A>T) | |
| 12 | g.101786051T>C | CA386304852 | GNPTAB | c.532A>G (p.Thr178Ala) n.326A>G c.166A>G (p.Thr56Ala) c.451A>G (p.Thr151Ala) c.316A>G (p.Thr106Ala) c.-819A>G (n.-819A>G) |