| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42910912_42911425delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA | CA2260697314 | G6PC1 | c.563-3_1073delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA c.447-3_*465delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA c.486-3_*465delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA | |
| 17 | g.42910915_42911427del | CA1139665564 | G6PC1 | c.563_*1del c.447_*467del c.486_*467del | ClinVar dbSNP |
| 17 | g.42911110T>A | CA399656137 | G6PC1 | c.758T>A (p.Ile253Asn) c.*150T>A (n.*150T>A) | |
| 17 | g.42911110T>C | CA399656140 | G6PC1 | c.758T>C (p.Ile253Thr) c.*150T>C (n.*150T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911110T>G | CA399656141 | G6PC1 | c.758T>G (p.Ile253Ser) c.*150T>G (n.*150T>G) | |
| 17 | g.42911110T= | CA2260697396 | G6PC1 | c.758T= (p.Ile253=) c.*150T= (n.*150T=) | |
| 17 | g.42911111T>A | CA500229468 | G6PC1 | c.759T>A (p.Ile253=) c.*151T>A (n.*151T>A) | |
| 17 | g.42911111T>C | CA500229469 | G6PC1 | c.759T>C (p.Ile253=) c.*151T>C (n.*151T>C) | |
| 17 | g.42911111T>G | CA399656144 | G6PC1 | c.759T>G (p.Ile253Met) c.*151T>G (n.*151T>G) | |
| 17 | g.42911112G>A | CA399656148 | G6PC1 | c.760G>A (p.Asp254Asn) c.*152G>A (n.*152G>A) | gnomAD v4 |
| 17 | g.42911112G>C | CA399656155 | G6PC1 | c.760G>C (p.Asp254His) c.*152G>C (n.*152G>C) | |
| 17 | g.42911112G>T | CA399656157 | G6PC1 | c.760G>T (p.Asp254Tyr) c.*152G>T (n.*152G>T) | |
| 17 | g.42911113A>C | CA399656162 | G6PC1 | c.761A>C (p.Asp254Ala) c.*153A>C (n.*153A>C) | |
| 17 | g.42911113A>G | CA399656159 | G6PC1 | c.761A>G (p.Asp254Gly) c.*153A>G (n.*153A>G) | |
| 17 | g.42911113A>T | CA399656161 | G6PC1 | c.761A>T (p.Asp254Val) c.*153A>T (n.*153A>T) | |
| 17 | g.42911115_42911116del | CA2594127696 | G6PC1 | c.763_764del (p.Thr255HisfsTer?) c.*155_*156del (n.*155_*156del) | gnomAD v3 gnomAD v4 |
| 17 | g.42911114C>A | CA399656165 | G6PC1 | c.762C>A (p.Asp254Glu) c.*154C>A (n.*154C>A) | |
| 17 | g.42911114C>G | CA399656166 | G6PC1 | c.762C>G (p.Asp254Glu) c.*154C>G (n.*154C>G) | |
| 17 | g.42911114C>T | CA500229473 | G6PC1 | c.762C>T (p.Asp254=) c.*154C>T (n.*154C>T) | ClinVar |
| 17 | g.42911115A>C | CA399656171 | G6PC1 | c.763A>C (p.Thr255Pro) c.*155A>C (n.*155A>C) | |
| 17 | g.42911115A>G | CA399656173 | G6PC1 | c.763A>G (p.Thr255Ala) c.*155A>G (n.*155A>G) | |
| 17 | g.42911115A>T | CA399656175 | G6PC1 | c.763A>T (p.Thr255Ser) c.*155A>T (n.*155A>T) | |
| 17 | g.42911116C>A | CA399656178 | G6PC1 | c.764C>A (p.Thr255Asn) c.*156C>A (n.*156C>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.42911116C= | CA2260697397 | G6PC1 | c.764C= (p.Thr255=) c.*156C= (n.*156C=) | |
| 17 | g.42911116C>G | CA399656181 | G6PC1 | c.764C>G (p.Thr255Ser) c.*156C>G (n.*156C>G) | |
| 17 | g.42911116C>T | CA399656183 | G6PC1 | c.764C>T (p.Thr255Ile) c.*156C>T (n.*156C>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42911117C>A | CA500229474 | G6PC1 | c.765C>A (p.Thr255=) c.*157C>A (n.*157C>A) | |
| 17 | g.42911117C= | CA2260697398 | G6PC1 | c.765C= (p.Thr255=) c.*157C= (n.*157C=) | |
| 17 | g.42911117C>G | CA500229476 | G6PC1 | c.765C>G (p.Thr255=) c.*157C>G (n.*157C>G) | |
| 17 | g.42911117C>T | CA500229475 | G6PC1 | c.765C>T (p.Thr255=) c.*157C>T (n.*157C>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42911118A>C | CA399656184 | G6PC1 | c.766A>C (p.Thr256Pro) c.*158A>C (n.*158A>C) | |
| 17 | g.42911118A>G | CA399656186 | G6PC1 | c.766A>G (p.Thr256Ala) c.*158A>G (n.*158A>G) | |
| 17 | g.42911118A>T | CA399656188 | G6PC1 | c.766A>T (p.Thr256Ser) c.*158A>T (n.*158A>T) | |
| 17 | g.42911119C>A | CA399656190 | G6PC1 | c.767C>A (p.Thr256Lys) c.*159C>A (n.*159C>A) | |
| 17 | g.42911119C>G | CA399656192 | G6PC1 | c.767C>G (p.Thr256Arg) c.*159C>G (n.*159C>G) | gnomAD v4 |
| 17 | g.42911119C>T | CA399656189 | G6PC1 | c.767C>T (p.Thr256Ile) c.*159C>T (n.*159C>T) | |
| 17 | g.42911120A= | CA2260697399 | G6PC1 | c.768A= (p.Thr256=) c.*160A= (n.*160A=) | |
| 17 | g.42911120A>C | CA500229479 | G6PC1 | c.768A>C (p.Thr256=) c.*160A>C (n.*160A>C) | |
| 17 | g.42911120A>G | CA290789905 | G6PC1 | c.768A>G (p.Thr256=) c.*160A>G (n.*160A>G) | dbSNP |
| 17 | g.42911120A>T | CA500229480 | G6PC1 | c.768A>T (p.Thr256=) c.*160A>T (n.*160A>T) | |
| 17 | g.42911121C>A | CA399656197 | G6PC1 | c.769C>A (p.Pro257Thr) c.*161C>A (n.*161C>A) | dbSNP |
| 17 | g.42911121C= | CA2260697400 | G6PC1 | c.769C= (p.Pro257=) c.*161C= (n.*161C=) | |
| 17 | g.42911121C>G | CA399656198 | G6PC1 | c.769C>G (p.Pro257Ala) c.*161C>G (n.*161C>G) | |
| 17 | g.42911121C>T | CA399656200 | G6PC1 | c.769C>T (p.Pro257Ser) c.*161C>T (n.*161C>T) | gnomAD v4 |
| 17 | g.42911122C>A | CA399656204 | G6PC1 | c.770C>A (p.Pro257His) c.*162C>A (n.*162C>A) | ClinVar dbSNP |
| 17 | g.42911122C= | CA2260697401 | G6PC1 | c.770C= (p.Pro257=) c.*162C= (n.*162C=) | |
| 17 | g.42911122C>G | CA399656207 | G6PC1 | c.770C>G (p.Pro257Arg) c.*162C>G (n.*162C>G) | |
| 17 | g.42911122C>T | CA399656208 | G6PC1 | c.770C>T (p.Pro257Leu) c.*162C>T (n.*162C>T) | dbSNP |
| 17 | g.42911123C>A | CA500229481 | G6PC1 | c.771C>A (p.Pro257=) c.*163C>A (n.*163C>A) | COSMIC |
| 17 | g.42911123C= | CA2260697402 | G6PC1 | c.771C= (p.Pro257=) c.*163C= (n.*163C=) |