| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 12 | g.101786051T>G | CA386304851 | GNPTAB | c.532A>C (p.Thr178Pro) n.326A>C c.166A>C (p.Thr56Pro) c.451A>C (p.Thr151Pro) c.316A>C (p.Thr106Pro) c.-819A>C (n.-819A>C) | |
| 12 | g.101786052A>C | CA481326208 | GNPTAB | c.531T>G (p.Ser177=) n.325T>G c.165T>G (p.Ser55=) c.450T>G (p.Ser150=) c.315T>G (p.Ser105=) c.-820T>G (n.-820T>G) | |
| 12 | g.101786052A>G | CA481326210 | GNPTAB | c.531T>C (p.Ser177=) n.325T>C c.165T>C (p.Ser55=) c.450T>C (p.Ser150=) c.315T>C (p.Ser105=) c.-820T>C (n.-820T>C) | |
| 12 | g.101786052A>T | CA481326209 | GNPTAB | c.531T>A (p.Ser177=) n.325T>A c.165T>A (p.Ser55=) c.450T>A (p.Ser150=) c.315T>A (p.Ser105=) c.-820T>A (n.-820T>A) | |
| 12 | g.101786053G>A | CA386304853 | GNPTAB | c.530C>T (p.Ser177Phe) n.324C>T c.164C>T (p.Ser55Phe) c.449C>T (p.Ser150Phe) c.314C>T (p.Ser105Phe) c.-821C>T (n.-821C>T) | |
| 12 | g.101786053G>C | CA386304854 | GNPTAB | c.530C>G (p.Ser177Cys) n.324C>G c.164C>G (p.Ser55Cys) c.449C>G (p.Ser150Cys) c.314C>G (p.Ser105Cys) c.-821C>G (n.-821C>G) | |
| 12 | g.101786053G>T | CA386304855 | GNPTAB | c.530C>A (p.Ser177Tyr) n.324C>A c.164C>A (p.Ser55Tyr) c.449C>A (p.Ser150Tyr) c.314C>A (p.Ser105Tyr) c.-821C>A (n.-821C>A) | |
| 12 | g.101786054A>C | CA386304856 | GNPTAB | c.529T>G (p.Ser177Ala) n.323T>G c.163T>G (p.Ser55Ala) c.448T>G (p.Ser150Ala) c.313T>G (p.Ser105Ala) c.-822T>G (n.-822T>G) | |
| 12 | g.101786054A>G | CA386304857 | GNPTAB | c.529T>C (p.Ser177Pro) n.323T>C c.163T>C (p.Ser55Pro) c.448T>C (p.Ser150Pro) c.313T>C (p.Ser105Pro) c.-822T>C (n.-822T>C) | gnomAD v4 |
| 12 | g.101786054A>T | CA386304858 | GNPTAB | c.529T>A (p.Ser177Thr) n.323T>A c.163T>A (p.Ser55Thr) c.448T>A (p.Ser150Thr) c.313T>A (p.Ser105Thr) c.-822T>A (n.-822T>A) | |
| 12 | g.101786055A>C | CA481326213 | GNPTAB | c.528T>G (p.Pro176=) n.322T>G c.162T>G (p.Pro54=) c.447T>G (p.Pro149=) c.312T>G (p.Pro104=) c.-823T>G (n.-823T>G) | |
| 12 | g.101786055A>G | CA481326214 | GNPTAB | c.528T>C (p.Pro176=) n.322T>C c.162T>C (p.Pro54=) c.447T>C (p.Pro149=) c.312T>C (p.Pro104=) c.-823T>C (n.-823T>C) | |
| 12 | g.101786055A>T | CA481326215 | GNPTAB | c.528T>A (p.Pro176=) n.322T>A c.162T>A (p.Pro54=) c.447T>A (p.Pro149=) c.312T>A (p.Pro104=) c.-823T>A (n.-823T>A) | |
| 12 | g.101786056G>A | CA6746865 | GNPTAB | c.527C>T (p.Pro176Leu) n.321C>T c.161C>T (p.Pro54Leu) c.446C>T (p.Pro149Leu) c.311C>T (p.Pro104Leu) c.-824C>T (n.-824C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101786056G>C | CA386304859 | GNPTAB | c.527C>G (p.Pro176Arg) n.321C>G c.161C>G (p.Pro54Arg) c.446C>G (p.Pro149Arg) c.311C>G (p.Pro104Arg) c.-824C>G (n.-824C>G) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101786056G= | CA2058964797 | GNPTAB | c.527C= (p.Pro176=) n.321C= c.161C= (p.Pro54=) c.446C= (p.Pro149=) c.311C= (p.Pro104=) c.-824C= (n.-824C=) | |
| 12 | g.101786056G>T | CA386304860 | GNPTAB | c.527C>A (p.Pro176His) n.321C>A c.161C>A (p.Pro54His) c.446C>A (p.Pro149His) c.311C>A (p.Pro104His) c.-824C>A (n.-824C>A) | |
| 12 | g.101786057G>A | CA386304861 | GNPTAB | c.526C>T (p.Pro176Ser) n.320C>T c.160C>T (p.Pro54Ser) c.445C>T (p.Pro149Ser) c.310C>T (p.Pro104Ser) c.-825C>T (n.-825C>T) | COSMIC COSMIC |
| 12 | g.101786057G>C | CA386304862 | GNPTAB | c.526C>G (p.Pro176Ala) n.320C>G c.160C>G (p.Pro54Ala) c.445C>G (p.Pro149Ala) c.310C>G (p.Pro104Ala) c.-825C>G (n.-825C>G) |