Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.68197360C>A | CA376858090 | MYPN | c.2342C>A (p.Ser781Tyr) c.3221C>A (p.Ser1074Tyr) c.3167C>A (p.Ser1056Tyr) c.*430C>A (n.*430C>A) c.*2438C>A (n.*2438C>A) c.2285C>A (p.Ser762Tyr) n.2594C>A n.3296C>A c.3197C>A (p.Ser1066Tyr) c.3245C>A (p.Ser1082Tyr) c.2045C>A (p.Ser682Tyr) n.2704C>A n.3241C>A | |
10 | g.68197360C= | CA1917226434 | MYPN | c.2342C= (p.Ser781=) c.3221C= (p.Ser1074=) c.3167C= (p.Ser1056=) c.*430C= (n.*430C=) c.*2438C= (n.*2438C=) c.2285C= (p.Ser762=) n.2594C= n.3296C= c.3197C= (p.Ser1066=) c.3245C= (p.Ser1082=) c.2045C= (p.Ser682=) n.2704C= n.3241C= | |
10 | g.68197360C>G | CA376858092 | MYPN | c.2342C>G (p.Ser781Cys) c.3221C>G (p.Ser1074Cys) c.3167C>G (p.Ser1056Cys) c.*430C>G (n.*430C>G) c.*2438C>G (n.*2438C>G) c.2285C>G (p.Ser762Cys) n.2594C>G n.3296C>G c.3197C>G (p.Ser1066Cys) c.3245C>G (p.Ser1082Cys) c.2045C>G (p.Ser682Cys) n.2704C>G n.3241C>G | |
10 | g.68197360C>T | CA5522980 | MYPN | c.2342C>T (p.Ser781Phe) c.3221C>T (p.Ser1074Phe) c.3167C>T (p.Ser1056Phe) c.*430C>T (n.*430C>T) c.*2438C>T (n.*2438C>T) c.2285C>T (p.Ser762Phe) n.2594C>T n.3296C>T c.3197C>T (p.Ser1066Phe) c.3245C>T (p.Ser1082Phe) c.2045C>T (p.Ser682Phe) n.2704C>T n.3241C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68197361C>A | CA469812204 | MYPN | c.2343C>A (p.Ser781=) c.3222C>A (p.Ser1074=) c.3168C>A (p.Ser1056=) c.*431C>A (n.*431C>A) c.*2439C>A (n.*2439C>A) c.2286C>A (p.Ser762=) n.2595C>A n.3297C>A c.3198C>A (p.Ser1066=) c.3246C>A (p.Ser1082=) c.2046C>A (p.Ser682=) n.2705C>A n.3242C>A | |
10 | g.68197361C= | CA1917226435 | MYPN | c.2343C= (p.Ser781=) c.3222C= (p.Ser1074=) c.3168C= (p.Ser1056=) c.*431C= (n.*431C=) c.*2439C= (n.*2439C=) c.2286C= (p.Ser762=) n.2595C= n.3297C= c.3198C= (p.Ser1066=) c.3246C= (p.Ser1082=) c.2046C= (p.Ser682=) n.2705C= n.3242C= | |
10 | g.68197361C>G | CA469812206 | MYPN | c.2343C>G (p.Ser781=) c.3222C>G (p.Ser1074=) c.3168C>G (p.Ser1056=) c.*431C>G (n.*431C>G) c.*2439C>G (n.*2439C>G) c.2286C>G (p.Ser762=) n.2595C>G n.3297C>G c.3198C>G (p.Ser1066=) c.3246C>G (p.Ser1082=) c.2046C>G (p.Ser682=) n.2705C>G n.3242C>G | |
10 | g.68197361C>T | CA469812207 | MYPN | c.2343C>T (p.Ser781=) c.3222C>T (p.Ser1074=) c.3168C>T (p.Ser1056=) c.*431C>T (n.*431C>T) c.*2439C>T (n.*2439C>T) c.2286C>T (p.Ser762=) n.2595C>T n.3297C>T c.3198C>T (p.Ser1066=) c.3246C>T (p.Ser1082=) c.2046C>T (p.Ser682=) n.2705C>T n.3242C>T | dbSNP gnomAD v4 |
10 | g.68197362C>A | CA469812208 | MYPN | c.2344C>A (p.Arg782=) c.3223C>A (p.Arg1075=) c.3169C>A (p.Arg1057=) c.*432C>A (n.*432C>A) c.*2440C>A (n.*2440C>A) c.2287C>A (p.Arg763=) n.2596C>A n.3298C>A c.3199C>A (p.Arg1067=) c.3247C>A (p.Arg1083=) c.2047C>A (p.Arg683=) n.2706C>A n.3243C>A | |
10 | g.68197362C= | CA1917226436 | MYPN | c.2344C= (p.Arg782=) c.3223C= (p.Arg1075=) c.3169C= (p.Arg1057=) c.*432C= (n.*432C=) c.*2440C= (n.*2440C=) c.2287C= (p.Arg763=) n.2596C= n.3298C= c.3199C= (p.Arg1067=) c.3247C= (p.Arg1083=) c.2047C= (p.Arg683=) n.2706C= n.3243C= | |
10 | g.68197362C>G | CA376858095 | MYPN | c.2344C>G (p.Arg782Gly) c.3223C>G (p.Arg1075Gly) c.3169C>G (p.Arg1057Gly) c.*432C>G (n.*432C>G) c.*2440C>G (n.*2440C>G) c.2287C>G (p.Arg763Gly) n.2596C>G n.3298C>G c.3199C>G (p.Arg1067Gly) c.3247C>G (p.Arg1083Gly) c.2047C>G (p.Arg683Gly) n.2706C>G n.3243C>G | |
10 | g.68197362C>T | CA16044351 | MYPN | c.2344C>T (p.Arg782Ter) c.3223C>T (p.Arg1075Ter) c.3169C>T (p.Arg1057Ter) c.*432C>T (n.*432C>T) c.*2440C>T (n.*2440C>T) c.2287C>T (p.Arg763Ter) n.2596C>T n.3298C>T c.3199C>T (p.Arg1067Ter) c.3247C>T (p.Arg1083Ter) c.2047C>T (p.Arg683Ter) n.2706C>T n.3243C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.68197363G>A | CA5522981 | MYPN | c.2345G>A (p.Arg782Gln) c.3224G>A (p.Arg1075Gln) c.3170G>A (p.Arg1057Gln) c.*433G>A (n.*433G>A) c.*2441G>A (n.*2441G>A) c.2288G>A (p.Arg763Gln) n.2597G>A n.3299G>A c.3200G>A (p.Arg1067Gln) c.3248G>A (p.Arg1083Gln) c.2048G>A (p.Arg683Gln) n.2707G>A n.3244G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68197363G>C | CA376858106 | MYPN | c.2345G>C (p.Arg782Pro) c.3224G>C (p.Arg1075Pro) c.3170G>C (p.Arg1057Pro) c.*433G>C (n.*433G>C) c.*2441G>C (n.*2441G>C) c.2288G>C (p.Arg763Pro) n.2597G>C n.3299G>C c.3200G>C (p.Arg1067Pro) c.3248G>C (p.Arg1083Pro) c.2048G>C (p.Arg683Pro) n.2707G>C n.3244G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68197363G= | CA1917226437 | MYPN | c.2345G= (p.Arg782=) c.3224G= (p.Arg1075=) c.3170G= (p.Arg1057=) c.*433G= (n.*433G=) c.*2441G= (n.*2441G=) c.2288G= (p.Arg763=) n.2597G= n.3299G= c.3200G= (p.Arg1067=) c.3248G= (p.Arg1083=) c.2048G= (p.Arg683=) n.2707G= n.3244G= | |
10 | g.68197363G>T | CA376858103 | MYPN | c.2345G>T (p.Arg782Leu) c.3224G>T (p.Arg1075Leu) c.3170G>T (p.Arg1057Leu) c.*433G>T (n.*433G>T) c.*2441G>T (n.*2441G>T) c.2288G>T (p.Arg763Leu) n.2597G>T n.3299G>T c.3200G>T (p.Arg1067Leu) c.3248G>T (p.Arg1083Leu) c.2048G>T (p.Arg683Leu) n.2707G>T n.3244G>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.68197364A>C | CA469812209 | MYPN | c.2346A>C (p.Arg782=) c.3225A>C (p.Arg1075=) c.3171A>C (p.Arg1057=) c.*434A>C (n.*434A>C) c.*2442A>C (n.*2442A>C) c.2289A>C (p.Arg763=) n.2598A>C n.3300A>C c.3201A>C (p.Arg1067=) c.3249A>C (p.Arg1083=) c.2049A>C (p.Arg683=) n.2708A>C n.3245A>C | |
10 | g.68197364A>G | CA469812211 | MYPN | c.2346A>G (p.Arg782=) c.3225A>G (p.Arg1075=) c.3171A>G (p.Arg1057=) c.*434A>G (n.*434A>G) c.*2442A>G (n.*2442A>G) c.2289A>G (p.Arg763=) n.2598A>G n.3300A>G c.3201A>G (p.Arg1067=) c.3249A>G (p.Arg1083=) c.2049A>G (p.Arg683=) n.2708A>G n.3245A>G | |
10 | g.68197364A>T | CA469812210 | MYPN | c.2346A>T (p.Arg782=) c.3225A>T (p.Arg1075=) c.3171A>T (p.Arg1057=) c.*434A>T (n.*434A>T) c.*2442A>T (n.*2442A>T) c.2289A>T (p.Arg763=) n.2598A>T n.3300A>T c.3201A>T (p.Arg1067=) c.3249A>T (p.Arg1083=) c.2049A>T (p.Arg683=) n.2708A>T n.3245A>T | |
10 | g.68197365G>A | CA376858112 | MYPN | c.2347G>A (p.Val783Met) c.3226G>A (p.Val1076Met) c.3172G>A (p.Val1058Met) c.*435G>A (n.*435G>A) c.*2443G>A (n.*2443G>A) c.2290G>A (p.Val764Met) n.2599G>A n.3301G>A c.3202G>A (p.Val1068Met) c.3250G>A (p.Val1084Met) c.2050G>A (p.Val684Met) n.2709G>A n.3246G>A | |
10 | g.68197365G>C | CA376858115 | MYPN | c.2347G>C (p.Val783Leu) c.3226G>C (p.Val1076Leu) c.3172G>C (p.Val1058Leu) c.*435G>C (n.*435G>C) c.*2443G>C (n.*2443G>C) c.2290G>C (p.Val764Leu) n.2599G>C n.3301G>C c.3202G>C (p.Val1068Leu) c.3250G>C (p.Val1084Leu) c.2050G>C (p.Val684Leu) n.2709G>C n.3246G>C | |
10 | g.68197365G>T | CA376858117 | MYPN | c.2347G>T (p.Val783Leu) c.3226G>T (p.Val1076Leu) c.3172G>T (p.Val1058Leu) c.*435G>T (n.*435G>T) c.*2443G>T (n.*2443G>T) c.2290G>T (p.Val764Leu) n.2599G>T n.3301G>T c.3202G>T (p.Val1068Leu) c.3250G>T (p.Val1084Leu) c.2050G>T (p.Val684Leu) n.2709G>T n.3246G>T | |
10 | g.68197366T>A | CA376858121 | MYPN | c.2348T>A (p.Val783Glu) c.3227T>A (p.Val1076Glu) c.3173T>A (p.Val1058Glu) c.*436T>A (n.*436T>A) c.*2444T>A (n.*2444T>A) c.2291T>A (p.Val764Glu) n.2600T>A n.3302T>A c.3203T>A (p.Val1068Glu) c.3251T>A (p.Val1084Glu) c.2051T>A (p.Val684Glu) n.2710T>A n.3247T>A | |
10 | g.68197366T>C | CA376858122 | MYPN | c.2348T>C (p.Val783Ala) c.3227T>C (p.Val1076Ala) c.3173T>C (p.Val1058Ala) c.*436T>C (n.*436T>C) c.*2444T>C (n.*2444T>C) c.2291T>C (p.Val764Ala) n.2600T>C n.3302T>C c.3203T>C (p.Val1068Ala) c.3251T>C (p.Val1084Ala) c.2051T>C (p.Val684Ala) n.2710T>C n.3247T>C | ClinVar dbSNP gnomAD v4 |
10 | g.68197366T>G | CA376858124 | MYPN | c.2348T>G (p.Val783Gly) c.3227T>G (p.Val1076Gly) c.3173T>G (p.Val1058Gly) c.*436T>G (n.*436T>G) c.*2444T>G (n.*2444T>G) c.2291T>G (p.Val764Gly) n.2600T>G n.3302T>G c.3203T>G (p.Val1068Gly) c.3251T>G (p.Val1084Gly) c.2051T>G (p.Val684Gly) n.2710T>G n.3247T>G | gnomAD v4 |
10 | g.68197366T= | CA1917226438 | MYPN | c.2348T= (p.Val783=) c.3227T= (p.Val1076=) c.3173T= (p.Val1058=) c.*436T= (n.*436T=) c.*2444T= (n.*2444T=) c.2291T= (p.Val764=) n.2600T= n.3302T= c.3203T= (p.Val1068=) c.3251T= (p.Val1084=) c.2051T= (p.Val684=) n.2710T= n.3247T= | |
10 | g.68197367G>A | CA469812213 | MYPN | c.2349G>A (p.Val783=) c.3228G>A (p.Val1076=) c.3174G>A (p.Val1058=) c.*437G>A (n.*437G>A) c.*2445G>A (n.*2445G>A) c.2292G>A (p.Val764=) n.2601G>A n.3303G>A c.3204G>A (p.Val1068=) c.3252G>A (p.Val1084=) c.2052G>A (p.Val684=) n.2711G>A n.3248G>A | |
10 | g.68197367G>C | CA469812214 | MYPN | c.2349G>C (p.Val783=) c.3228G>C (p.Val1076=) c.3174G>C (p.Val1058=) c.*437G>C (n.*437G>C) c.*2445G>C (n.*2445G>C) c.2292G>C (p.Val764=) n.2601G>C n.3303G>C c.3204G>C (p.Val1068=) c.3252G>C (p.Val1084=) c.2052G>C (p.Val684=) n.2711G>C n.3248G>C | |
10 | g.68197367G>T | CA469812215 | MYPN | c.2349G>T (p.Val783=) c.3228G>T (p.Val1076=) c.3174G>T (p.Val1058=) c.*437G>T (n.*437G>T) c.*2445G>T (n.*2445G>T) c.2292G>T (p.Val764=) n.2601G>T n.3303G>T c.3204G>T (p.Val1068=) c.3252G>T (p.Val1084=) c.2052G>T (p.Val684=) n.2711G>T n.3248G>T | gnomAD v4 |
10 | g.68197368C>A | CA376858127 | MYPN | c.2350C>A (p.Gln784Lys) c.3229C>A (p.Gln1077Lys) c.3175C>A (p.Gln1059Lys) c.*438C>A (n.*438C>A) c.*2446C>A (n.*2446C>A) c.2293C>A (p.Gln765Lys) n.2602C>A n.3304C>A c.3205C>A (p.Gln1069Lys) c.3253C>A (p.Gln1085Lys) c.2053C>A (p.Gln685Lys) n.2712C>A n.3249C>A | |
10 | g.68197368C>G | CA376858129 | MYPN | c.2350C>G (p.Gln784Glu) c.3229C>G (p.Gln1077Glu) c.3175C>G (p.Gln1059Glu) c.*438C>G (n.*438C>G) c.*2446C>G (n.*2446C>G) c.2293C>G (p.Gln765Glu) n.2602C>G n.3304C>G c.3205C>G (p.Gln1069Glu) c.3253C>G (p.Gln1085Glu) c.2053C>G (p.Gln685Glu) n.2712C>G n.3249C>G | |
10 | g.68197368C>T | CA376858137 | MYPN | c.2350C>T (p.Gln784Ter) c.3229C>T (p.Gln1077Ter) c.3175C>T (p.Gln1059Ter) c.*438C>T (n.*438C>T) c.*2446C>T (n.*2446C>T) c.2293C>T (p.Gln765Ter) n.2602C>T n.3304C>T c.3205C>T (p.Gln1069Ter) c.3253C>T (p.Gln1085Ter) c.2053C>T (p.Gln685Ter) n.2712C>T n.3249C>T | |
10 | g.68197369A= | CA1917226439 | MYPN | c.2351A= (p.Gln784=) c.3230A= (p.Gln1077=) c.3176A= (p.Gln1059=) c.*439A= (n.*439A=) c.*2447A= (n.*2447A=) c.2294A= (p.Gln765=) n.2603A= n.3305A= c.3206A= (p.Gln1069=) c.3254A= (p.Gln1085=) c.2054A= (p.Gln685=) n.2713A= n.3250A= | |
10 | g.68197369A>C | CA376858149 | MYPN | c.2351A>C (p.Gln784Pro) c.3230A>C (p.Gln1077Pro) c.3176A>C (p.Gln1059Pro) c.*439A>C (n.*439A>C) c.*2447A>C (n.*2447A>C) c.2294A>C (p.Gln765Pro) n.2603A>C n.3305A>C c.3206A>C (p.Gln1069Pro) c.3254A>C (p.Gln1085Pro) c.2054A>C (p.Gln685Pro) n.2713A>C n.3250A>C | |
10 | g.68197369A>G | CA208224328 | MYPN | c.2351A>G (p.Gln784Arg) c.3230A>G (p.Gln1077Arg) c.3176A>G (p.Gln1059Arg) c.*439A>G (n.*439A>G) c.*2447A>G (n.*2447A>G) c.2294A>G (p.Gln765Arg) n.2603A>G n.3305A>G c.3206A>G (p.Gln1069Arg) c.3254A>G (p.Gln1085Arg) c.2054A>G (p.Gln685Arg) n.2713A>G n.3250A>G | dbSNP |
10 | g.68197369A>T | CA376858145 | MYPN | c.2351A>T (p.Gln784Leu) c.3230A>T (p.Gln1077Leu) c.3176A>T (p.Gln1059Leu) c.*439A>T (n.*439A>T) c.*2447A>T (n.*2447A>T) c.2294A>T (p.Gln765Leu) n.2603A>T n.3305A>T c.3206A>T (p.Gln1069Leu) c.3254A>T (p.Gln1085Leu) c.2054A>T (p.Gln685Leu) n.2713A>T n.3250A>T | |
10 | g.68197370A>C | CA376858152 | MYPN | c.2352A>C (p.Gln784His) c.3231A>C (p.Gln1077His) c.3177A>C (p.Gln1059His) c.*440A>C (n.*440A>C) c.*2448A>C (n.*2448A>C) c.2295A>C (p.Gln765His) n.2604A>C n.3306A>C c.3207A>C (p.Gln1069His) c.3255A>C (p.Gln1085His) c.2055A>C (p.Gln685His) n.2714A>C n.3251A>C | |
10 | g.68197370A>G | CA469812216 | MYPN | c.2352A>G (p.Gln784=) c.3231A>G (p.Gln1077=) c.3177A>G (p.Gln1059=) c.*440A>G (n.*440A>G) c.*2448A>G (n.*2448A>G) c.2295A>G (p.Gln765=) n.2604A>G n.3306A>G c.3207A>G (p.Gln1069=) c.3255A>G (p.Gln1085=) c.2055A>G (p.Gln685=) n.2714A>G n.3251A>G | |
10 | g.68197370A>T | CA376858154 | MYPN | c.2352A>T (p.Gln784His) c.3231A>T (p.Gln1077His) c.3177A>T (p.Gln1059His) c.*440A>T (n.*440A>T) c.*2448A>T (n.*2448A>T) c.2295A>T (p.Gln765His) n.2604A>T n.3306A>T c.3207A>T (p.Gln1069His) c.3255A>T (p.Gln1085His) c.2055A>T (p.Gln685His) n.2714A>T n.3251A>T | |
10 | g.68197371G>A | CA376858156 | MYPN | c.2353G>A (p.Glu785Lys) c.3232G>A (p.Glu1078Lys) c.3178G>A (p.Glu1060Lys) c.*441G>A (n.*441G>A) c.*2449G>A (n.*2449G>A) c.2296G>A (p.Glu766Lys) n.2605G>A n.3307G>A c.3208G>A (p.Glu1070Lys) c.3256G>A (p.Glu1086Lys) c.2056G>A (p.Glu686Lys) n.2715G>A n.3252G>A | |
10 | g.68197371G>C | CA376858158 | MYPN | c.2353G>C (p.Glu785Gln) c.3232G>C (p.Glu1078Gln) c.3178G>C (p.Glu1060Gln) c.*441G>C (n.*441G>C) c.*2449G>C (n.*2449G>C) c.2296G>C (p.Glu766Gln) n.2605G>C n.3307G>C c.3208G>C (p.Glu1070Gln) c.3256G>C (p.Glu1086Gln) c.2056G>C (p.Glu686Gln) n.2715G>C n.3252G>C | |
10 | g.68197371G>T | CA376858160 | MYPN | c.2353G>T (p.Glu785Ter) c.3232G>T (p.Glu1078Ter) c.3178G>T (p.Glu1060Ter) c.*441G>T (n.*441G>T) c.*2449G>T (n.*2449G>T) c.2296G>T (p.Glu766Ter) n.2605G>T n.3307G>T c.3208G>T (p.Glu1070Ter) c.3256G>T (p.Glu1086Ter) c.2056G>T (p.Glu686Ter) n.2715G>T n.3252G>T | |
10 | g.68197372A>C | CA376858161 | MYPN | c.2354A>C (p.Glu785Ala) c.3233A>C (p.Glu1078Ala) c.3179A>C (p.Glu1060Ala) c.*442A>C (n.*442A>C) c.*2450A>C (n.*2450A>C) c.2297A>C (p.Glu766Ala) n.2606A>C n.3308A>C c.3209A>C (p.Glu1070Ala) c.3257A>C (p.Glu1086Ala) c.2057A>C (p.Glu686Ala) n.2716A>C n.3253A>C | |
10 | g.68197372A>G | CA376858164 | MYPN | c.2354A>G (p.Glu785Gly) c.3233A>G (p.Glu1078Gly) c.3179A>G (p.Glu1060Gly) c.*442A>G (n.*442A>G) c.*2450A>G (n.*2450A>G) c.2297A>G (p.Glu766Gly) n.2606A>G n.3308A>G c.3209A>G (p.Glu1070Gly) c.3257A>G (p.Glu1086Gly) c.2057A>G (p.Glu686Gly) n.2716A>G n.3253A>G | gnomAD v4 |
10 | g.68197372A>T | CA376858170 | MYPN | c.2354A>T (p.Glu785Val) c.3233A>T (p.Glu1078Val) c.3179A>T (p.Glu1060Val) c.*442A>T (n.*442A>T) c.*2450A>T (n.*2450A>T) c.2297A>T (p.Glu766Val) n.2606A>T n.3308A>T c.3209A>T (p.Glu1070Val) c.3257A>T (p.Glu1086Val) c.2057A>T (p.Glu686Val) n.2716A>T n.3253A>T | |
10 | g.68197373A>C | CA376858173 | MYPN | c.2355A>C (p.Glu785Asp) c.3234A>C (p.Glu1078Asp) c.3180A>C (p.Glu1060Asp) c.*443A>C (n.*443A>C) c.*2451A>C (n.*2451A>C) c.2298A>C (p.Glu766Asp) n.2607A>C n.3309A>C c.3210A>C (p.Glu1070Asp) c.3258A>C (p.Glu1086Asp) c.2058A>C (p.Glu686Asp) n.2717A>C n.3254A>C | COSMIC |
10 | g.68197373A>G | CA469812218 | MYPN | c.2355A>G (p.Glu785=) c.3234A>G (p.Glu1078=) c.3180A>G (p.Glu1060=) c.*443A>G (n.*443A>G) c.*2451A>G (n.*2451A>G) c.2298A>G (p.Glu766=) n.2607A>G n.3309A>G c.3210A>G (p.Glu1070=) c.3258A>G (p.Glu1086=) c.2058A>G (p.Glu686=) n.2717A>G n.3254A>G | |
10 | g.68197373A>T | CA376858175 | MYPN | c.2355A>T (p.Glu785Asp) c.3234A>T (p.Glu1078Asp) c.3180A>T (p.Glu1060Asp) c.*443A>T (n.*443A>T) c.*2451A>T (n.*2451A>T) c.2298A>T (p.Glu766Asp) n.2607A>T n.3309A>T c.3210A>T (p.Glu1070Asp) c.3258A>T (p.Glu1086Asp) c.2058A>T (p.Glu686Asp) n.2717A>T n.3254A>T | |
10 | g.68197374A>C | CA469812219 | MYPN | c.2356A>C (p.Arg786=) c.3235A>C (p.Arg1079=) c.3181A>C (p.Arg1061=) c.*444A>C (n.*444A>C) c.*2452A>C (n.*2452A>C) c.2299A>C (p.Arg767=) n.2608A>C n.3310A>C c.3211A>C (p.Arg1071=) c.3259A>C (p.Arg1087=) c.2059A>C (p.Arg687=) n.2718A>C n.3255A>C | |
10 | g.68197374A>G | CA376858178 | MYPN | c.2356A>G (p.Arg786Gly) c.3235A>G (p.Arg1079Gly) c.3181A>G (p.Arg1061Gly) c.*444A>G (n.*444A>G) c.*2452A>G (n.*2452A>G) c.2299A>G (p.Arg767Gly) n.2608A>G n.3310A>G c.3211A>G (p.Arg1071Gly) c.3259A>G (p.Arg1087Gly) c.2059A>G (p.Arg687Gly) n.2718A>G n.3255A>G |