UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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=) | |
| 17 | g.42911123C>G | CA500229482 | G6PC1 | c.771C>G (p.Pro257=) c.*163C>G (n.*163C>G) | |
| 17 | g.42911123C>T | CA500229484 | G6PC1 | c.771C>T (p.Pro257=) c.*163C>T (n.*163C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42911124T>A | CA399656210 | G6PC1 | c.772T>A (p.Phe258Ile) c.*164T>A (n.*164T>A) | gnomAD v4 |
| 17 | g.42911124T>C | CA8587646 | G6PC1 | c.772T>C (p.Phe258Leu) c.*164T>C (n.*164T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911124T>G | CA399656212 | G6PC1 | c.772T>G (p.Phe258Val) c.*164T>G (n.*164T>G) | |
| 17 | g.42911124T= | CA2260697403 | G6PC1 | c.772T= (p.Phe258=) c.*164T= (n.*164T=) | |
| 17 | g.42911125T>A | CA399656217 | G6PC1 | c.773T>A (p.Phe258Tyr) c.*165T>A (n.*165T>A) | |
| 17 | g.42911125T>C | CA399656219 | G6PC1 | c.773T>C (p.Phe258Ser) c.*165T>C (n.*165T>C) | |
| 17 | g.42911125T>G | CA399656221 | G6PC1 | c.773T>G (p.Phe258Cys) c.*165T>G (n.*165T>G) | |
| 17 | g.42911126T>A | CA399656223 | G6PC1 | c.774T>A (p.Phe258Leu) c.*166T>A (n.*166T>A) | |
| 17 | g.42911126T>C | CA500229487 | G6PC1 | c.774T>C (p.Phe258=) c.*166T>C (n.*166T>C) | |
| 17 | g.42911126T>G | CA399656225 | G6PC1 | c.774T>G (p.Phe258Leu) c.*166T>G (n.*166T>G) | |
| 17 | g.42911127G>A | CA399656228 | G6PC1 | c.775G>A (p.Ala259Thr) c.*167G>A (n.*167G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911127G>C | CA399656232 | G6PC1 | c.775G>C (p.Ala259Pro) c.*167G>C (n.*167G>C) | |
| 17 | g.42911127G= | CA2260697404 | G6PC1 | c.775G= (p.Ala259=) c.*167G= (n.*167G=) | |
| 17 | g.42911127G>T | CA399656230 | G6PC1 | c.775G>T (p.Ala259Ser) c.*167G>T (n.*167G>T) | gnomAD v4 |
| 17 | g.42911128C>A | CA399656233 | G6PC1 | c.776C>A (p.Ala259Asp) c.*168C>A (n.*168C>A) | COSMIC |
| 17 | g.42911128C>G | CA399656235 | G6PC1 | c.776C>G (p.Ala259Gly) c.*168C>G (n.*168C>G) | |
| 17 | g.42911128C>T | CA399656237 | G6PC1 | c.776C>T (p.Ala259Val) c.*168C>T (n.*168C>T) | gnomAD v4 |
| 17 | g.42911129C>A | CA500229488 | G6PC1 | c.777C>A (p.Ala259=) c.*169C>A (n.*169C>A) | |
| 17 | g.42911129C>G | CA500229490 | G6PC1 | c.777C>G (p.Ala259=) c.*169C>G (n.*169C>G) | |
| 17 | g.42911129C>T | CA500229489 | G6PC1 | c.777C>T (p.Ala259=) c.*169C>T (n.*169C>T) | gnomAD v4 |
| 17 | g.42911130A>C | CA399656239 | G6PC1 | c.778A>C (p.Ser260Arg) c.*170A>C (n.*170A>C) | |
| 17 | g.42911130A>G | CA399656242 | G6PC1 | c.778A>G (p.Ser260Gly) c.*170A>G (n.*170A>G) | |
| 17 | g.42911130A>T | CA399656244 | G6PC1 | c.778A>T (p.Ser260Cys) c.*170A>T (n.*170A>T) | |
| 17 | g.42911131G>A | CA399656245 | G6PC1 | c.779G>A (p.Ser260Asn) c.*171G>A (n.*171G>A) | |
| 17 | g.42911131G>C | CA399656248 | G6PC1 | c.779G>C (p.Ser260Thr) c.*171G>C (n.*171G>C) | |
| 17 | g.42911131G>T | CA399656249 | G6PC1 | c.779G>T (p.Ser260Ile) c.*171G>T (n.*171G>T) | |
| 17 | g.42911131_42911134del | CA913012331 | G6PC1 | c.779_782del (p.Ser260ThrfsTer?) c.*171_*174del (n.*171_*174del) | |
| 17 | g.42911131_42911134delinsGCCT | CA2260697405 | G6PC1 | c.779_782delinsGCCT (p.Ser260=) c.*171_*174delinsGCCT (n.*171_*174delinsGCCT) | |
| 17 | g.42911132C>A | CA399656252 | G6PC1 | c.780C>A (p.Ser260Arg) c.*172C>A (n.*172C>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42911132C= | CA2260697406 | G6PC1 | c.780C= (p.Ser260=) c.*172C= (n.*172C=) | |
| 17 | g.42911132C>G | CA399656255 | G6PC1 | c.780C>G (p.Ser260Arg) c.*172C>G (n.*172C>G) | |
| 17 | g.42911132C>T | CA8587647 | G6PC1 | c.780C>T (p.Ser260=) c.*172C>T (n.*172C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911136_42911138del | CA626220850 | G6PC1 | c.784_786del (p.Leu262del) c.*176_*178del (n.*176_*178del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911133C>A | CA399656262 | G6PC1 | c.781C>A (p.Leu261Ile) c.*173C>A (n.*173C>A) | |
| 17 | g.42911133C>G | CA399656258 | G6PC1 | c.781C>G (p.Leu261Val) c.*173C>G (n.*173C>G) | |
| 17 | g.42911133C>T | CA399656260 | G6PC1 | c.781C>T (p.Leu261Phe) c.*173C>T (n.*173C>T) | |
| 17 | g.42911134T>A | CA399656264 | G6PC1 | c.782T>A (p.Leu261His) c.*174T>A (n.*174T>A) | |
| 17 | g.42911134T>C | CA399656267 | G6PC1 | c.782T>C (p.Leu261Pro) c.*174T>C (n.*174T>C) | |
| 17 | g.42911134T>G | CA399656268 | G6PC1 | c.782T>G (p.Leu261Arg) c.*174T>G (n.*174T>G) | |
| 17 | g.42911135C>A | CA500229492 | G6PC1 | c.783C>A (p.Leu261=) c.*175C>A (n.*175C>A) | |
| 17 | g.42911135C>G | CA500229493 | G6PC1 | c.783C>G (p.Leu261=) c.*175C>G (n.*175C>G) | |
| 17 | g.42911135C>T | CA500229494 | G6PC1 | c.783C>T (p.Leu261=) c.*175C>T (n.*175C>T) | ClinVar |
| 17 | g.42911136C>A | CA399656271 | G6PC1 | c.784C>A (p.Leu262Ile) c.*176C>A (n.*176C>A) | |
| 17 | g.42911136C>G | CA399656272 | G6PC1 | c.784C>G (p.Leu262Val) c.*176C>G (n.*176C>G) | |
| 17 | g.42911136C>T | CA399656275 | G6PC1 | c.784C>T (p.Leu262Phe) c.*176C>T (n.*176C>T) | gnomAD v4 |
| 17 | g.42911137T>A | CA399656281 | G6PC1 | c.785T>A (p.Leu262His) c.*177T>A (n.*177T>A) | |
| 17 | g.42911137T>C | CA399656276 | G6PC1 | c.785T>C (p.Leu262Pro) c.*177T>C (n.*177T>C) | |
| 17 | g.42911137T>G | CA399656279 | G6PC1 | c.785T>G (p.Leu262Arg) c.*177T>G (n.*177T>G) | |
| 17 | g.42911138C>A | CA500229497 | G6PC1 | c.786C>A (p.Leu262=) c.*178C>A (n.*178C>A) | |
| 17 | g.42911138C= | CA2260697407 | G6PC1 | c.786C= (p.Leu262=) c.*178C= (n.*178C=) | |
| 17 | g.42911138C>G | CA8587649 | G6PC1 | c.786C>G (p.Leu262=) c.*178C>G (n.*178C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42911138C>T | CA8587648 | G6PC1 | c.786C>T (p.Leu262=) c.*178C>T (n.*178C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911138_42911139delinsCA | CA2260697408 | G6PC1 | c.786_787delinsCA (p.Leu262=) c.*178_*179delinsCA (n.*178_*179delinsCA) | |
| 17 | g.42911139A>C | CA399656287 | G6PC1 | c.787A>C (p.Lys263Gln) c.*179A>C (n.*179A>C) | |
| 17 | g.42911139A>G | CA399656289 | G6PC1 | c.787A>G (p.Lys263Glu) c.*179A>G (n.*179A>G) | gnomAD v4 |
| 17 | g.42911139A>T | CA399656291 | G6PC1 | c.787A>T (p.Lys263Ter) c.*179A>T (n.*179A>T) | |
| 17 | g.42911140del | CA626220851 | G6PC1 | c.788del (p.Lys263ArgfsTer?) c.*180del (n.*180del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911140A>C | CA399656294 | G6PC1 | c.788A>C (p.Lys263Thr) c.*180A>C (n.*180A>C) | |
| 17 | g.42911140A>G | CA399656292 | G6PC1 | c.788A>G (p.Lys263Arg) c.*180A>G (n.*180A>G) | |
| 17 | g.42911140A>T | CA399656293 | G6PC1 | c.788A>T (p.Lys263Met) c.*180A>T (n.*180A>T) | |
| 17 | g.42911141G>A | CA500229498 | G6PC1 | c.789G>A (p.Lys263=) c.*181G>A (n.*181G>A) | ClinVar |
| 17 | g.42911141G>C | CA399656295 | G6PC1 | c.789G>C (p.Lys263Asn) c.*181G>C (n.*181G>C) | |
| 17 | g.42911141G>T | CA399656296 | G6PC1 | c.789G>T (p.Lys263Asn) c.*181G>T (n.*181G>T) | |
| 17 | g.42911142A>C | CA399656297 | G6PC1 | c.790A>C (p.Asn264His) c.*182A>C (n.*182A>C) | |
| 17 | g.42911142A>G | CA399656298 | G6PC1 | c.790A>G (p.Asn264Asp) c.*182A>G (n.*182A>G) | |
| 17 | g.42911142A>T | CA399656299 | G6PC1 | c.790A>T (p.Asn264Tyr) c.*182A>T (n.*182A>T) | |
| 17 | g.42911143A>C | CA399656301 | G6PC1 | c.791A>C (p.Asn264Thr) c.*183A>C (n.*183A>C) | |
| 17 | g.42911143A>G | CA399656302 | G6PC1 | c.791A>G (p.Asn264Ser) c.*183A>G (n.*183A>G) | |
| 17 | g.42911143A>T | CA399656306 | G6PC1 | c.791A>T (p.Asn264Ile) c.*183A>T (n.*183A>T) | |
| 17 | g.42911144C>A | CA399656309 | G6PC1 | c.792C>A (p.Asn264Lys) c.*184C>A (n.*184C>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42911144C= | CA2260697409 | G6PC1 | c.792C= (p.Asn264=) c.*184C= (n.*184C=) | |
| 17 | g.42911144C>G | CA399656311 | G6PC1 | c.792C>G (p.Asn264Lys) c.*184C>G (n.*184C>G) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42911144C>T | CA500229499 | G6PC1 | c.792C>T (p.Asn264=) c.*184C>T (n.*184C>T) | ClinVar |
| 17 | g.42911145del | CA2695226082 | G6PC1 | c.793del (p.Leu265TrpfsTer?) c.*185del (n.*185del) | |
| 17 | g.42911145C>A | CA399656312 | G6PC1 | c.793C>A (p.Leu265Met) c.*185C>A (n.*185C>A) | |
| 17 | g.42911145C= | CA2260697410 | G6PC1 | c.793C= (p.Leu265=) c.*185C= (n.*185C=) | |
| 17 | g.42911145C>G | CA8587650 | G6PC1 | c.793C>G (p.Leu265Val) c.*185C>G (n.*185C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911145C>T | CA500229501 | G6PC1 | c.793C>T (p.Leu265=) c.*185C>T (n.*185C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42911146T>A | CA399656321 | G6PC1 | c.794T>A (p.Leu265Gln) c.*186T>A (n.*186T>A) | |
| 17 | g.42911146T>C | CA399656324 | G6PC1 | c.794T>C (p.Leu265Pro) c.*186T>C (n.*186T>C) | gnomAD v4 |
| 17 | g.42911146T>G | CA399656322 | G6PC1 | c.794T>G (p.Leu265Arg) c.*186T>G (n.*186T>G) | |
| 17 | g.42911147G>A | CA500229503 | G6PC1 | c.795G>A (p.Leu265=) c.*187G>A (n.*187G>A) | |
| 17 | g.42911147G>C | CA500229504 | G6PC1 | c.795G>C (p.Leu265=) c.*187G>C (n.*187G>C) | |
| 17 | g.42911147G>T | CA500229505 | G6PC1 | c.795G>T (p.Leu265=) c.*187G>T (n.*187G>T) | |
| 17 | g.42911148G>A | CA399656327 | G6PC1 | c.796G>A (p.Gly266Ser) c.*188G>A (n.*188G>A) | ClinVar dbSNP |
| 17 | g.42911148G>C | CA399656328 | G6PC1 | c.796G>C (p.Gly266Arg) c.*188G>C (n.*188G>C) | |
| 17 | g.42911148G>T | CA399656330 | G6PC1 | c.796G>T (p.Gly266Cys) c.*188G>T (n.*188G>T) | |
| 17 | g.42911149G>A | CA399656333 | G6PC1 | c.797G>A (p.Gly266Asp) c.*189G>A (n.*189G>A) | COSMIC |
| 17 | g.42911149G>C | CA399656334 | G6PC1 | c.797G>C (p.Gly266Ala) c.*189G>C (n.*189G>C) | |
| 17 | g.42911149G>T | CA399656336 | G6PC1 | c.797G>T (p.Gly266Val) c.*189G>T (n.*189G>T) | |
| 17 | g.42911149_42911150delinsGC | CA2260697411 | G6PC1 | c.797_798delinsGC (p.Gly266=) c.*189_*190delinsGC (n.*189_*190delinsGC) | |
| 17 | g.42911150del | CA8587651 | G6PC1 | c.798del (p.Thr267ArgfsTer?) c.*190del (n.*190del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911150C>A | CA500229507 | G6PC1 | c.798C>A (p.Gly266=) c.*190C>A (n.*190C>A) | |
| 17 | g.42911150C= | CA2260697412 | G6PC1 | c.798C= (p.Gly266=) c.*190C= (n.*190C=) | |
| 17 | g.42911150C>G | CA500229508 | G6PC1 | c.798C>G (p.Gly266=) c.*190C>G (n.*190C>G) | |
| 17 | g.42911150C>T | CA500229509 | G6PC1 | c.798C>T (p.Gly266=) c.*190C>T (n.*190C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911151A>C | CA399656345 | G6PC1 | c.799A>C (p.Thr267Pro) c.*191A>C (n.*191A>C) | |
| 17 | g.42911151A>G | CA399656340 | G6PC1 | c.799A>G (p.Thr267Ala) c.*191A>G (n.*191A>G) | |
| 17 | g.42911151A>T | CA399656342 | G6PC1 | c.799A>T (p.Thr267Ser) c.*191A>T (n.*191A>T) | |
| 17 | g.42911152C>A | CA290789944 | G6PC1 | c.800C>A (p.Thr267Lys) c.*192C>A (n.*192C>A) | dbSNP |
| 17 | g.42911152C= | CA2260697413 | G6PC1 | c.800C= (p.Thr267=) c.*192C= (n.*192C=) | |
| 17 | g.42911152C>G | CA399656348 | G6PC1 | c.800C>G (p.Thr267Arg) c.*192C>G (n.*192C>G) | ClinVar gnomAD v4 |
| 17 | g.42911152C>T | CA8587652 | G6PC1 | c.800C>T (p.Thr267Met) c.*192C>T (n.*192C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911153G>A | CA8587653 | G6PC1 | c.801G>A (p.Thr267=) c.*193G>A (n.*193G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911153G>C | CA290789955 | G6PC1 | c.801G>C (p.Thr267=) c.*193G>C (n.*193G>C) | dbSNP |
| 17 | g.42911153G= | CA2260697414 | G6PC1 | c.801G= (p.Thr267=) c.*193G= (n.*193G=) | |
| 17 | g.42911153G>T | CA500229511 | G6PC1 | c.801G>T (p.Thr267=) c.*193G>T (n.*193G>T) | ClinVar dbSNP |
| 17 | g.42911154C>A | CA399656354 | G6PC1 | c.802C>A (p.Leu268Ile) c.*194C>A (n.*194C>A) | |
| 17 | g.42911154C= | CA2260697415 | G6PC1 | c.802C= (p.Leu268=) c.*194C= (n.*194C=) | |
| 17 | g.42911154C>G | CA399656359 | G6PC1 | c.802C>G (p.Leu268Val) c.*194C>G (n.*194C>G) | |
| 17 | g.42911154C>T | CA399656356 | G6PC1 | c.802C>T (p.Leu268Phe) c.*194C>T (n.*194C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42911155T>A | CA399656362 | G6PC1 | c.803T>A (p.Leu268His) c.*195T>A (n.*195T>A) | |
| 17 | g.42911155T>C | CA399656363 | G6PC1 | c.803T>C (p.Leu268Pro) c.*195T>C (n.*195T>C) | |
| 17 | g.42911155T>G | CA399656366 | G6PC1 | c.803T>G (p.Leu268Arg) c.*195T>G (n.*195T>G) | |
| 17 | g.42911156C>A | CA500229515 | G6PC1 | c.804C>A (p.Leu268=) c.*196C>A (n.*196C>A) | |
| 17 | g.42911156C= | CA2260697416 | G6PC1 | c.804C= (p.Leu268=) c.*196C= (n.*196C=) | |
| 17 | g.42911156C>G | CA500229516 | G6PC1 | c.804C>G (p.Leu268=) c.*196C>G (n.*196C>G) | |
| 17 | g.42911156C>T | CA8587654 | G6PC1 | c.804C>T (p.Leu268=) c.*196C>T (n.*196C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911157T>A | CA399656370 | G6PC1 | c.805T>A (p.Phe269Ile) c.*197T>A (n.*197T>A) | |
| 17 | g.42911157T>C | CA399656372 | G6PC1 | c.805T>C (p.Phe269Leu) c.*197T>C (n.*197T>C) | |
| 17 | g.42911157T>G | CA399656374 | G6PC1 | c.805T>G (p.Phe269Val) c.*197T>G (n.*197T>G) | |
| 17 | g.42911158T>A | CA399656377 | G6PC1 | c.806T>A (p.Phe269Tyr) c.*198T>A (n.*198T>A) | |
| 17 | g.42911158T>C | CA8587655 | G6PC1 | c.806T>C (p.Phe269Ser) c.*198T>C (n.*198T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42911158T>G | CA399656379 | G6PC1 | c.806T>G (p.Phe269Cys) c.*198T>G (n.*198T>G) | |
| 17 | g.42911158T= | CA2260697417 | G6PC1 | c.806T= (p.Phe269=) c.*198T= (n.*198T=) | |
| 17 | g.42911159T>A | CA399656382 | G6PC1 | c.807T>A (p.Phe269Leu) c.*199T>A (n.*199T>A) | |
| 17 | g.42911159T>C | CA500229522 | G6PC1 | c.807T>C (p.Phe269=) c.*199T>C (n.*199T>C) | |
| 17 | g.42911159T>G | CA399656385 | G6PC1 | c.807T>G (p.Phe269Leu) c.*199T>G (n.*199T>G) | |
| 17 | g.42911160G>A | CA399656386 | G6PC1 | c.808G>A (p.Gly270Ser) c.*200G>A (n.*200G>A) | gnomAD v4 |
| 17 | g.42911160G>C | CA399656391 | G6PC1 | c.808G>C (p.Gly270Arg) c.*200G>C (n.*200G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911160G= | CA2260697418 | G6PC1 | c.808G= (p.Gly270=) c.*200G= (n.*200G=) | |
| 17 | g.42911160G>T | CA399656389 | G6PC1 | c.808G>T (p.Gly270Cys) c.*200G>T (n.*200G>T) | |
| 17 | g.42911161G>A | CA399656394 | G6PC1 | c.809G>A (p.Gly270Asp) c.*201G>A (n.*201G>A) | ClinVar |
| 17 | g.42911161G>C | CA399656396 | G6PC1 | c.809G>C (p.Gly270Ala) c.*201G>C (n.*201G>C) | |
| 17 | g.42911161G= | CA2260697419 | G6PC1 | c.809G= (p.Gly270=) c.*201G= (n.*201G=) | |
| 17 | g.42911161G>T | CA341569 | G6PC1 | c.809G>T (p.Gly270Val) c.*201G>T (n.*201G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911162C>A | CA500229527 | G6PC1 | c.810C>A (p.Gly270=) c.*202C>A (n.*202C>A) | |
| 17 | g.42911162C= | CA2260697420 | G6PC1 | c.810C= (p.Gly270=) c.*202C= (n.*202C=) | |
| 17 | g.42911162C>G | CA500229528 | G6PC1 | c.810C>G (p.Gly270=) c.*202C>G (n.*202C>G) | ClinVar gnomAD v4 |
| 17 | g.42911162C>T | CA290789962 | G6PC1 | c.810C>T (p.Gly270=) c.*202C>T (n.*202C>T) | dbSNP gnomAD v4 |
| 17 | g.42911163C>A | CA399656400 | G6PC1 | c.811C>A (p.Leu271Met) c.*203C>A (n.*203C>A) | |
| 17 | g.42911163C>G | CA399656402 | G6PC1 | c.811C>G (p.Leu271Val) c.*203C>G (n.*203C>G) | |
| 17 | g.42911163C>T | CA500229529 | G6PC1 | c.811C>T (p.Leu271=) c.*203C>T (n.*203C>T) | ClinVar dbSNP |
| 17 | g.42911163_42911164delinsCT | CA2260697421 | G6PC1 | c.811_812delinsCT (p.Leu271=) c.*203_*204delinsCT (n.*203_*204delinsCT) | |
| 17 | g.42911164del | CA772150938 | G6PC1 | c.812del (p.Leu271ArgfsTer30) c.*204del (n.*204del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42911164T>A | CA399656405 | G6PC1 | c.812T>A (p.Leu271Gln) c.*204T>A (n.*204T>A) | |
| 17 | g.42911164T>C | CA399656407 | G6PC1 | c.812T>C (p.Leu271Pro) c.*204T>C (n.*204T>C) | |
| 17 | g.42911164T>G | CA399656410 | G6PC1 | c.812T>G (p.Leu271Arg) c.*204T>G (n.*204T>G) | |
| 17 | g.42911165G>A | CA500229532 | G6PC1 | c.813G>A (p.Leu271=) c.*205G>A (n.*205G>A) | |
| 17 | g.42911165G>C | CA290789963 | G6PC1 | c.813G>C (p.Leu271=) c.*205G>C (n.*205G>C) | ClinVar dbSNP |
| 17 | g.42911165G= | CA2260697422 | G6PC1 | c.813G= (p.Leu271=) c.*205G= (n.*205G=) | |
| 17 | g.42911165G>T | CA500229531 | G6PC1 | c.813G>T (p.Leu271=) c.*205G>T (n.*205G>T) | |
| 17 | g.42911166G>A | CA399656414 | G6PC1 | c.814G>A (p.Gly272Arg) c.*206G>A (n.*206G>A) | |
| 17 | g.42911166G>C | CA399656418 | G6PC1 | c.814G>C (p.Gly272Arg) c.*206G>C (n.*206G>C) | |
| 17 | g.42911166G>T | CA399656419 | G6PC1 | c.814G>T (p.Gly272Trp) c.*206G>T (n.*206G>T) | gnomAD v4 |
| 17 | g.42911167G>A | CA399656426 | G6PC1 | c.815G>A (p.Gly272Glu) c.*207G>A (n.*207G>A) | |
| 17 | g.42911167G>C | CA399656420 | G6PC1 | c.815G>C (p.Gly272Ala) c.*207G>C (n.*207G>C) | |
| 17 | g.42911167G>T | CA399656423 | G6PC1 | c.815G>T (p.Gly272Val) c.*207G>T (n.*207G>T) | |
| 17 | g.42911168G>A | CA8587656 | G6PC1 | c.816G>A (p.Gly272=) c.*208G>A (n.*208G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911168G>C | CA500229534 | G6PC1 | c.816G>C (p.Gly272=) c.*208G>C (n.*208G>C) | |
| 17 | g.42911168G= | CA2260697423 | G6PC1 | c.816G= (p.Gly272=) c.*208G= (n.*208G=) | |
| 17 | g.42911168G>T | CA500229535 | G6PC1 | c.816G>T (p.Gly272=) c.*208G>T (n.*208G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911169C>A | CA399656429 | G6PC1 | c.817C>A (p.Leu273Met) c.*209C>A (n.*209C>A) | |
| 17 | g.42911169C>G | CA399656431 | G6PC1 | c.817C>G (p.Leu273Val) c.*209C>G (n.*209C>G) | |
| 17 | g.42911169C>T | CA500229537 | G6PC1 | c.817C>T (p.Leu273=) c.*209C>T (n.*209C>T) | |
| 17 | g.42911170T>A | CA399656434 | G6PC1 | c.818T>A (p.Leu273Gln) c.*210T>A (n.*210T>A) | |
| 17 | g.42911170T>C | CA399656436 | G6PC1 | c.818T>C (p.Leu273Pro) c.*210T>C (n.*210T>C) | gnomAD v4 |
| 17 | g.42911170T>G | CA399656437 | G6PC1 | c.818T>G (p.Leu273Arg) c.*210T>G (n.*210T>G) | |
| 17 | g.42911171G>A | CA500229542 | G6PC1 | c.819G>A (p.Leu273=) c.*211G>A (n.*211G>A) | gnomAD v4 |
| 17 | g.42911171G>C | CA500229543 | G6PC1 | c.819G>C (p.Leu273=) c.*211G>C (n.*211G>C) | |
| 17 | g.42911171G>T | CA500229544 | G6PC1 | c.819G>T (p.Leu273=) c.*211G>T (n.*211G>T) | |
| 17 | g.42911172G>A | CA8587657 | G6PC1 | c.820G>A (p.Ala274Thr) c.*212G>A (n.*212G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42911172G>C | CA399656440 | G6PC1 | c.820G>C (p.Ala274Pro) c.*212G>C (n.*212G>C) | |
| 17 | g.42911172G= | CA2260697424 | G6PC1 | c.820G= (p.Ala274=) c.*212G= (n.*212G=) | |
| 17 | g.42911172G>T | CA399656443 | G6PC1 | c.820G>T (p.Ala274Ser) c.*212G>T (n.*212G>T) | gnomAD v4 |
| 17 | g.42911173C>A | CA399656447 | G6PC1 | c.821C>A (p.Ala274Asp) c.*213C>A (n.*213C>A) | |
| 17 | g.42911173C= | CA2260697425 | G6PC1 | c.821C= (p.Ala274=) c.*213C= (n.*213C=) | |
| 17 | g.42911173C>G | CA399656448 | G6PC1 | c.821C>G (p.Ala274Gly) c.*213C>G (n.*213C>G) | |
| 17 | g.42911173C>T | CA8587658 | G6PC1 | c.821C>T (p.Ala274Val) c.*213C>T (n.*213C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42911174T>A | CA500229545 | G6PC1 | c.822T>A (p.Ala274=) c.*214T>A (n.*214T>A) | |
| 17 | g.42911174T>C | CA8587659 | G6PC1 | c.822T>C (p.Ala274=) c.*214T>C (n.*214T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911174T>G | CA500229547 | G6PC1 | c.822T>G (p.Ala274=) c.*214T>G (n.*214T>G) | |
| 17 | g.42911174T= | CA2260697426 | G6PC1 | c.822T= (p.Ala274=) c.*214T= (n.*214T=) | |
| 17 | g.42911175C>A | CA399656453 | G6PC1 | c.823C>A (p.Leu275Ile) c.*215C>A (n.*215C>A) | |
| 17 | g.42911175C= | CA2260697427 | G6PC1 | c.823C= (p.Leu275=) c.*215C= (n.*215C=) | |
| 17 | g.42911175C>G | CA290789999 | G6PC1 | c.823C>G (p.Leu275Val) c.*215C>G (n.*215C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42911175C>T | CA399656455 | G6PC1 | c.823C>T (p.Leu275Phe) c.*215C>T (n.*215C>T) | |
| 17 | g.42911178_42911182del | CA2580093787 | G6PC1 | c.826_830del (p.Asn276GlnfsTer?) c.*218_*222del (n.*218_*222del) | ClinVar |
| 17 | g.42911176T>A | CA399656457 | G6PC1 | c.824T>A (p.Leu275His) c.*216T>A (n.*216T>A) | |
| 17 | g.42911176T>C | CA399656462 | G6PC1 | c.824T>C (p.Leu275Pro) c.*216T>C (n.*216T>C) | |
| 17 | g.42911176T>G | CA399656459 | G6PC1 | c.824T>G (p.Leu275Arg) c.*216T>G (n.*216T>G) | |
| 17 | g.42911177C>A | CA8587660 | G6PC1 | c.825C>A (p.Leu275=) c.*217C>A (n.*217C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42911177C= | CA2260697428 | G6PC1 | c.825C= (p.Leu275=) c.*217C= (n.*217C=) | |
| 17 | g.42911177C>G | CA500229549 | G6PC1 | c.825C>G (p.Leu275=) c.*217C>G (n.*217C>G) | |
| 17 | g.42911177C>T | CA500229550 | G6PC1 | c.825C>T (p.Leu275=) c.*217C>T (n.*217C>T) | |
| 17 | g.42911178A>C | CA399656465 | G6PC1 | c.826A>C (p.Asn276His) c.*218A>C (n.*218A>C) | |
| 17 | g.42911178A>G | CA399656466 | G6PC1 | c.826A>G (p.Asn276Asp) c.*218A>G (n.*218A>G) | |
| 17 | g.42911178A>T | CA399656468 | G6PC1 | c.826A>T (p.Asn276Tyr) c.*218A>T (n.*218A>T) | |
| 17 | g.42911179A>C | CA399656472 | G6PC1 | c.827A>C (p.Asn276Thr) c.*219A>C (n.*219A>C) | |
| 17 | g.42911179A>G | CA399656475 | G6PC1 | c.827A>G (p.Asn276Ser) c.*219A>G (n.*219A>G) | |
| 17 | g.42911179A>T | CA399656477 | G6PC1 | c.827A>T (p.Asn276Ile) c.*219A>T (n.*219A>T) | |
| 17 | g.42911180C>A | CA399656481 | G6PC1 | c.828C>A (p.Asn276Lys) c.*220C>A (n.*220C>A) | |
| 17 | g.42911180C>G | CA399656478 | G6PC1 | c.828C>G (p.Asn276Lys) c.*220C>G (n.*220C>G) | |
| 17 | g.42911180C>T | CA500229553 | G6PC1 | c.828C>T (p.Asn276=) c.*220C>T (n.*220C>T) | |
| 17 | g.42911181T>A | CA399656482 | G6PC1 | c.829T>A (p.Ser277Thr) c.*221T>A (n.*221T>A) | |
| 17 | g.42911181T>C | CA399656485 | G6PC1 | c.829T>C (p.Ser277Pro) c.*221T>C (n.*221T>C) | |
| 17 | g.42911181T>G | CA399656487 | G6PC1 | c.829T>G (p.Ser277Ala) c.*221T>G (n.*221T>G) | |
| 17 | g.42911182C>A | CA8587661 | G6PC1 | c.830C>A (p.Ser277Tyr) c.*222C>A (n.*222C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42911182C= | CA2260697429 | G6PC1 | c.830C= (p.Ser277=) c.*222C= (n.*222C=) | |
| 17 | g.42911182C>G | CA399656490 | G6PC1 | c.830C>G (p.Ser277Cys) c.*222C>G (n.*222C>G) | |
| 17 | g.42911182C>T | CA8587662 | G6PC1 | c.830C>T (p.Ser277Phe) c.*222C>T (n.*222C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42911183C>A | CA500229555 | G6PC1 | c.831C>A (p.Ser277=) c.*223C>A (n.*223C>A) | |
| 17 | g.42911183C= | CA2260697430 | G6PC1 | c.831C= (p.Ser277=) c.*223C= (n.*223C=) | |
| 17 | g.42911183C>G | CA500229557 | G6PC1 | c.831C>G (p.Ser277=) c.*223C>G (n.*223C>G) | |
| 17 | g.42911183C>T | CA500229559 | G6PC1 | c.831C>T (p.Ser277=) c.*223C>T (n.*223C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42911184A>C | CA399656499 | G6PC1 | c.832A>C (p.Ser278Arg) c.*224A>C (n.*224A>C) | |
| 17 | g.42911184A>G | CA399656495 | G6PC1 | c.832A>G (p.Ser278Gly) c.*224A>G (n.*224A>G) | |
| 17 | g.42911184A>T | CA399656498 | G6PC1 | c.832A>T (p.Ser278Cys) c.*224A>T (n.*224A>T) | |
| 17 | g.42911185G>A | CA399656501 | G6PC1 | c.833G>A (p.Ser278Asn) c.*225G>A (n.*225G>A) | |
| 17 | g.42911185G>C | CA399656503 | G6PC1 | c.833G>C (p.Ser278Thr) c.*225G>C (n.*225G>C) | |
| 17 | g.42911185G= | CA2260697431 | G6PC1 | c.833G= (p.Ser278=) c.*225G= (n.*225G=) | |
| 17 | g.42911185G>T | CA399656506 | G6PC1 | c.833G>T (p.Ser278Ile) c.*225G>T (n.*225G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911186C>A | CA399656508 | G6PC1 | c.834C>A (p.Ser278Arg) c.*226C>A (n.*226C>A) | |
| 17 | g.42911186C>G | CA399656510 | G6PC1 | c.834C>G (p.Ser278Arg) c.*226C>G (n.*226C>G) | |
| 17 | g.42911186C>T | CA500229560 | G6PC1 | c.834C>T (p.Ser278=) c.*226C>T (n.*226C>T) | gnomAD v4 |
| 17 | g.42911187A>C | CA399656518 | G6PC1 | c.835A>C (p.Met279Leu) c.*227A>C (n.*227A>C) | |
| 17 | g.42911187A>G | CA399656516 | G6PC1 | c.835A>G (p.Met279Val) c.*227A>G (n.*227A>G) | COSMIC |
| 17 | g.42911187A>T | CA399656514 | G6PC1 | c.835A>T (p.Met279Leu) c.*227A>T (n.*227A>T) | |
| 17 | g.42911188T>A | CA399656520 | G6PC1 | c.836T>A (p.Met279Lys) c.*228T>A (n.*228T>A) | |
| 17 | g.42911188T>C | CA8587663 | G6PC1 | c.836T>C (p.Met279Thr) c.*228T>C (n.*228T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911188T>G | CA399656523 | G6PC1 | c.836T>G (p.Met279Arg) c.*228T>G (n.*228T>G) | |
| 17 | g.42911188T= | CA2260697432 | G6PC1 | c.836T= (p.Met279=) c.*228T= (n.*228T=) | |
| 17 | g.42911189G>A | CA399656525 | G6PC1 | c.837G>A (p.Met279Ile) c.*229G>A (n.*229G>A) | |
| 17 | g.42911189G>C | CA399656528 | G6PC1 | c.837G>C (p.Met279Ile) c.*229G>C (n.*229G>C) | |
| 17 | g.42911189G>T | CA399656529 | G6PC1 | c.837G>T (p.Met279Ile) c.*229G>T (n.*229G>T) | |
| 17 | g.42911190T>A | CA399656531 | G6PC1 | c.838T>A (p.Tyr280Asn) c.*230T>A (n.*230T>A) | gnomAD v4 |
| 17 | g.42911190T>C | CA399656535 | G6PC1 | c.838T>C (p.Tyr280His) c.*230T>C (n.*230T>C) | |
| 17 | g.42911190T>G | CA399656533 | G6PC1 | c.838T>G (p.Tyr280Asp) c.*230T>G (n.*230T>G) | dbSNP |
| 17 | g.42911190T= | CA2260697433 | G6PC1 | c.838T= (p.Tyr280=) c.*230T= (n.*230T=) | |
| 17 | g.42911191A>C | CA399656538 | G6PC1 | c.839A>C (p.Tyr280Ser) c.*231A>C (n.*231A>C) | |
| 17 | g.42911191A>G | CA399656540 | G6PC1 | c.839A>G (p.Tyr280Cys) c.*231A>G (n.*231A>G) | |
| 17 | g.42911191A>T | CA399656542 | G6PC1 | c.839A>T (p.Tyr280Phe) c.*231A>T (n.*231A>T) | |
| 17 | g.42911192C>A | CA399656545 | G6PC1 | c.840C>A (p.Tyr280Ter) c.*232C>A (n.*232C>A) | gnomAD v4 |
| 17 | g.42911192C>G | CA399656547 | G6PC1 | c.840C>G (p.Tyr280Ter) c.*232C>G (n.*232C>G) | |
| 17 | g.42911192C>T | CA500229568 | G6PC1 | c.840C>T (p.Tyr280=) c.*232C>T (n.*232C>T) | |
| 17 | g.42911193A= | CA2260697434 | G6PC1 | c.841A= (p.Arg281=) c.*233A= (n.*233A=) | |
| 17 | g.42911193A>C | CA500229570 | G6PC1 | c.841A>C (p.Arg281=) c.*233A>C (n.*233A>C) | |
| 17 | g.42911193A>G | CA399656550 | G6PC1 | c.841A>G (p.Arg281Gly) c.*233A>G (n.*233A>G) | dbSNP gnomAD v4 |
| 17 | g.42911193A>T | CA399656552 | G6PC1 | c.841A>T (p.Arg281Trp) c.*233A>T (n.*233A>T) | gnomAD v4 |
| 17 | g.42911194G>A | CA399656559 | G6PC1 | c.842G>A (p.Arg281Lys) c.*234G>A (n.*234G>A) | |
| 17 | g.42911194G>C | CA399656554 | G6PC1 | c.842G>C (p.Arg281Thr) c.*234G>C (n.*234G>C) | |
| 17 | g.42911194G>T | CA399656557 | G6PC1 | c.842G>T (p.Arg281Met) c.*234G>T (n.*234G>T) | |
| 17 | g.42911195G>A | CA500229573 | G6PC1 | c.843G>A (p.Arg281=) c.*235G>A (n.*235G>A) | gnomAD v4 COSMIC |
| 17 | g.42911195G>C | CA399656562 | G6PC1 | c.843G>C (p.Arg281Ser) c.*235G>C (n.*235G>C) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42911195G= | CA2260697435 | G6PC1 | c.843G= (p.Arg281=) c.*235G= (n.*235G=) | |
| 17 | g.42911195G>T | CA399656563 | G6PC1 | c.843G>T (p.Arg281Ser) c.*235G>T (n.*235G>T) | |
| 17 | g.42911196G>A | CA399656566 | G6PC1 | c.844G>A (p.Glu282Lys) c.*236G>A (n.*236G>A) | dbSNP gnomAD v4 COSMIC |
| 17 | g.42911196G>C | CA399656568 | G6PC1 | c.844G>C (p.Glu282Gln) c.*236G>C (n.*236G>C) | |
| 17 | g.42911196G= | CA2260697436 | G6PC1 | c.844G= (p.Glu282=) c.*236G= (n.*236G=) | |
| 17 | g.42911196G>T | CA399656569 | G6PC1 | c.844G>T (p.Glu282Ter) c.*236G>T (n.*236G>T) | |
| 17 | g.42911197A>C | CA399656571 | G6PC1 | c.845A>C (p.Glu282Ala) c.*237A>C (n.*237A>C) | |
| 17 | g.42911197A>G | CA399656575 | G6PC1 | c.845A>G (p.Glu282Gly) c.*237A>G (n.*237A>G) | |
| 17 | g.42911197A>T | CA399656572 | G6PC1 | c.845A>T (p.Glu282Val) c.*237A>T (n.*237A>T) | |
| 17 | g.42911198G>A | CA8587665 | G6PC1 | c.846G>A (p.Glu282=) c.*238G>A (n.*238G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911198G>C | CA399656579 | G6PC1 | c.846G>C (p.Glu282Asp) c.*238G>C (n.*238G>C) | COSMIC |
| 17 | g.42911198G= | CA2260697437 | G6PC1 | c.846G= (p.Glu282=) c.*238G= (n.*238G=) | |
| 17 | g.42911198G>T | CA8587664 | G6PC1 | c.846G>T (p.Glu282Asp) c.*238G>T (n.*238G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911199A>C | CA399656583 | G6PC1 | c.847A>C (p.Ser283Arg) c.*239A>C (n.*239A>C) | |
| 17 | g.42911199A>G | CA399656585 | G6PC1 | c.847A>G (p.Ser283Gly) c.*239A>G (n.*239A>G) | |
| 17 | g.42911199A>T | CA399656587 | G6PC1 | c.847A>T (p.Ser283Cys) c.*239A>T (n.*239A>T) | |
| 17 | g.42911200G>A | CA399656589 | G6PC1 | c.848G>A (p.Ser283Asn) c.*240G>A (n.*240G>A) | gnomAD v4 COSMIC |
| 17 | g.42911200G>C | CA399656591 | G6PC1 | c.848G>C (p.Ser283Thr) c.*240G>C (n.*240G>C) | |
| 17 | g.42911200G>T | CA399656592 | G6PC1 | c.848G>T (p.Ser283Ile) c.*240G>T (n.*240G>T) | |
| 17 | g.42911201C>A | CA399656595 | G6PC1 | c.849C>A (p.Ser283Arg) c.*241C>A (n.*241C>A) | |
| 17 | g.42911201C= | CA2260697438 | G6PC1 | c.849C= (p.Ser283=) c.*241C= (n.*241C=) | |
| 17 | g.42911201C>G | CA399656598 | G6PC1 | c.849C>G (p.Ser283Arg) c.*241C>G (n.*241C>G) | |
| 17 | g.42911201C>T | CA290790023 | G6PC1 | c.849C>T (p.Ser283=) c.*241C>T (n.*241C>T) | dbSNP |
| 17 | g.42911202T>A | CA399656600 | G6PC1 | c.850T>A (p.Cys284Ser) c.*242T>A (n.*242T>A) | |
| 17 | g.42911202T>C | CA399656604 | G6PC1 | c.850T>C (p.Cys284Arg) c.*242T>C (n.*242T>C) | gnomAD v4 |
| 17 | g.42911202T>G | CA399656601 | G6PC1 | c.850T>G (p.Cys284Gly) c.*242T>G (n.*242T>G) | |
| 17 | g.42911203G>A | CA399656606 | G6PC1 | c.851G>A (p.Cys284Tyr) c.*243G>A (n.*243G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42911203G>C | CA399656610 | G6PC1 | c.851G>C (p.Cys284Ser) c.*243G>C (n.*243G>C) | |
| 17 | g.42911203G= | CA2260697439 | G6PC1 | c.851G= (p.Cys284=) c.*243G= (n.*243G=) | |
| 17 | g.42911203G>T | CA399656608 | G6PC1 | c.851G>T (p.Cys284Phe) c.*243G>T (n.*243G>T) | |
| 17 | g.42911204C>A | CA399656613 | G6PC1 | c.852C>A (p.Cys284Ter) c.*244C>A (n.*244C>A) | |
| 17 | g.42911204C>G | CA399656614 | G6PC1 | c.852C>G (p.Cys284Trp) c.*244C>G (n.*244C>G) | |
| 17 | g.42911204C>T | CA500229709 | G6PC1 | c.852C>T (p.Cys284=) c.*244C>T (n.*244C>T) | |
| 17 | g.42911205A>C | CA399656617 | G6PC1 | c.853A>C (p.Lys285Gln) c.*245A>C (n.*245A>C) | |
| 17 | g.42911205A>G | CA399656619 | G6PC1 | c.853A>G (p.Lys285Glu) c.*245A>G (n.*245A>G) | gnomAD v4 COSMIC |
| 17 | g.42911205A>T | CA399656622 | G6PC1 | c.853A>T (p.Lys285Ter) c.*245A>T (n.*245A>T) | |
| 17 | g.42911205_42911206dup | CA2695226084 | G6PC1 | c.853_854dup (p.Gly286ArgfsTer16) c.*245_*246dup (n.*245_*246dup) | |
| 17 | g.42911205_42911206insT | CA2580093790 | G6PC1 | c.853_854insT (p.Lys285IlefsTer26) c.*245_*246insT (n.*245_*246insT) | ClinVar |
| 17 | g.42911206A>C | CA399656624 | G6PC1 | c.854A>C (p.Lys285Thr) c.*246A>C (n.*246A>C) | |
| 17 | g.42911206A>G | CA399656627 | G6PC1 | c.854A>G (p.Lys285Arg) c.*246A>G (n.*246A>G) | gnomAD v4 |
| 17 | g.42911206A>T | CA399656628 | G6PC1 | c.854A>T (p.Lys285Met) c.*246A>T (n.*246A>T) | |
| 17 | g.42911206_42911207delinsAG | CA2260697440 | G6PC1 | c.854_855delinsAG (p.Lys285=) c.*246_*247delinsAG (n.*246_*247delinsAG) | |
| 17 | g.42911207G>A | CA500229715 | G6PC1 | c.855G>A (p.Lys285=) c.*247G>A (n.*247G>A) | ClinVar dbSNP |
| 17 | g.42911207G>C | CA399656630 | G6PC1 | c.855G>C (p.Lys285Asn) c.*247G>C (n.*247G>C) | |
| 17 | g.42911207G= | CA2260697441 | G6PC1 | c.855G= (p.Lys285=) c.*247G= (n.*247G=) | |
| 17 | g.42911207G>T | CA399656634 | G6PC1 | c.855G>T (p.Lys285Asn) c.*247G>T (n.*247G>T) | |
| 17 | g.42911210del | CA16041845 | G6PC1 | c.858del (p.Lys287AsnfsTer14) c.*250del (n.*250del) | ClinVar dbSNP |
| 17 | g.42911208G>A | CA290790028 | G6PC1 | c.856G>A (p.Gly286Arg) c.*248G>A (n.*248G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42911208G>C | CA399656638 | G6PC1 | c.856G>C (p.Gly286Arg) c.*248G>C (n.*248G>C) | gnomAD v4 |
| 17 | g.42911208G= | CA2260697442 | G6PC1 | c.856G= (p.Gly286=) c.*248G= (n.*248G=) | |
| 17 | g.42911208G>T | CA399656637 | G6PC1 | c.856G>T (p.Gly286Trp) c.*248G>T (n.*248G>T) | |
| 17 | g.42911209G>A | CA399656640 | G6PC1 | c.857G>A (p.Gly286Glu) c.*249G>A (n.*249G>A) | gnomAD v4 COSMIC |
| 17 | g.42911209G>C | CA399656641 | G6PC1 | c.857G>C (p.Gly286Ala) c.*249G>C (n.*249G>C) | |
| 17 | g.42911209G>T | CA399656642 | G6PC1 | c.857G>T (p.Gly286Val) c.*249G>T (n.*249G>T) | |
| 17 | g.42911210G>A | CA500229725 | G6PC1 | c.858G>A (p.Gly286=) c.*250G>A (n.*250G>A) | |
| 17 | g.42911210G>C | CA500229726 | G6PC1 | c.858G>C (p.Gly286=) c.*250G>C (n.*250G>C) | |
| 17 | g.42911210G>T | CA500229727 | G6PC1 | c.858G>T (p.Gly286=) c.*250G>T (n.*250G>T) | |
| 17 | g.42911211A>C | CA399656643 | G6PC1 | c.859A>C (p.Lys287Gln) c.*251A>C (n.*251A>C) | COSMIC |
| 17 | g.42911211A>G | CA399656644 | G6PC1 | c.859A>G (p.Lys287Glu) c.*251A>G (n.*251A>G) | |
| 17 | g.42911211A>T | CA399656646 | G6PC1 | c.859A>T (p.Lys287Ter) c.*251A>T (n.*251A>T) | |
| 17 | g.42911212A>C | CA399656648 | G6PC1 | c.860A>C (p.Lys287Thr) c.*252A>C (n.*252A>C) | |
| 17 | g.42911212A>G | CA399656649 | G6PC1 | c.860A>G (p.Lys287Arg) c.*252A>G (n.*252A>G) | |
| 17 | g.42911212A>T | CA399656650 | G6PC1 | c.860A>T (p.Lys287Ile) c.*252A>T (n.*252A>T) | |
| 17 | g.42911213A>C | CA399656651 | G6PC1 | c.861A>C (p.Lys287Asn) c.*253A>C (n.*253A>C) | |
| 17 | g.42911213A>G | CA500229731 | G6PC1 | c.861A>G (p.Lys287=) c.*253A>G (n.*253A>G) | |
| 17 | g.42911213A>T | CA399656652 | G6PC1 | c.861A>T (p.Lys287Asn) c.*253A>T (n.*253A>T) | |
| 17 | g.42911214C>A | CA399656654 | G6PC1 | c.862C>A (p.Leu288Ile) c.*254C>A (n.*254C>A) | |
| 17 | g.42911214C= | CA2260697443 | G6PC1 | c.862C= (p.Leu288=) c.*254C= (n.*254C=) | |
| 17 | g.42911214C>G | CA399656656 | G6PC1 | c.862C>G (p.Leu288Val) c.*254C>G (n.*254C>G) | |
| 17 | g.42911214C>T | CA290790031 | G6PC1 | c.862C>T (p.Leu288Phe) c.*254C>T (n.*254C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911215_42911216del | CA2638041526 | G6PC1 | c.863_864del (p.Leu288GlnfsTer22) c.*255_*256del (n.*255_*256del) | gnomAD v4 |
| 17 | g.42911215T>A | CA399656658 | G6PC1 | c.863T>A (p.Leu288His) c.*255T>A (n.*255T>A) | dbSNP |
| 17 | g.42911215T>C | CA399656659 | G6PC1 | c.863T>C (p.Leu288Pro) c.*255T>C (n.*255T>C) | |
| 17 | g.42911215T>G | CA399656660 | G6PC1 | c.863T>G (p.Leu288Arg) c.*255T>G (n.*255T>G) | |
| 17 | g.42911216C>A | CA500229737 | G6PC1 | c.864C>A (p.Leu288=) c.*256C>A (n.*256C>A) | |
| 17 | g.42911216C>G | CA500229738 | G6PC1 | c.864C>G (p.Leu288=) c.*256C>G (n.*256C>G) | |
| 17 | g.42911216C>T | CA500229739 | G6PC1 | c.864C>T (p.Leu288=) c.*256C>T (n.*256C>T) | |
| 17 | g.42911217A= | CA2260697444 | G6PC1 | c.865A= (p.Ser289=) c.*257A= (n.*257A=) | |
| 17 | g.42911217A>C | CA399656663 | G6PC1 | c.865A>C (p.Ser289Arg) c.*257A>C (n.*257A>C) | |
| 17 | g.42911217A>G | CA290790032 | G6PC1 | c.865A>G (p.Ser289Gly) c.*257A>G (n.*257A>G) | dbSNP |
| 17 | g.42911217A>T | CA399656665 | G6PC1 | c.865A>T (p.Ser289Cys) c.*257A>T (n.*257A>T) | |
| 17 | g.42911218G>A | CA399656670 | G6PC1 | c.866G>A (p.Ser289Asn) c.*258G>A (n.*258G>A) | |
| 17 | g.42911218G>C | CA399656667 | G6PC1 | c.866G>C (p.Ser289Thr) c.*258G>C (n.*258G>C) | |
| 17 | g.42911218G= | CA2260697445 | G6PC1 | c.866G= (p.Ser289=) c.*258G= (n.*258G=) | |
| 17 | g.42911218G>T | CA399656669 | G6PC1 | c.866G>T (p.Ser289Ile) c.*258G>T (n.*258G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42911219C>A | CA399656672 | G6PC1 | c.867C>A (p.Ser289Arg) c.*259C>A (n.*259C>A) | |
| 17 | g.42911219C>G | CA399656674 | G6PC1 | c.867C>G (p.Ser289Arg) c.*259C>G (n.*259C>G) | |
| 17 | g.42911219C>T | CA500229743 | G6PC1 | c.867C>T (p.Ser289=) c.*259C>T (n.*259C>T) |