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.42911270G>A | CA500229828 | G6PC1 | c.918G>A (p.Leu306=) c.*310G>A (n.*310G>A) | ClinVar |
17 | g.42911270G>C | CA500229826 | G6PC1 | c.918G>C (p.Leu306=) c.*310G>C (n.*310G>C) | |
17 | g.42911270G>T | CA500229827 | G6PC1 | c.918G>T (p.Leu306=) c.*310G>T (n.*310G>T) | |
17 | g.42911271C>A | CA399657035 | G6PC1 | c.919C>A (p.His307Asn) c.*311C>A (n.*311C>A) | |
17 | g.42911271C>G | CA399657039 | G6PC1 | c.919C>G (p.His307Asp) c.*311C>G (n.*311C>G) | |
17 | g.42911271C>T | CA399657040 | G6PC1 | c.919C>T (p.His307Tyr) c.*311C>T (n.*311C>T) | |
17 | g.42911272A>C | CA399657044 | G6PC1 | c.920A>C (p.His307Pro) c.*312A>C (n.*312A>C) | |
17 | g.42911272A>G | CA399657048 | G6PC1 | c.920A>G (p.His307Arg) c.*312A>G (n.*312A>G) | |
17 | g.42911272A>T | CA399657059 | G6PC1 | c.920A>T (p.His307Leu) c.*312A>T (n.*312A>T) | |
17 | g.42911273C>A | CA399657062 | G6PC1 | c.921C>A (p.His307Gln) c.*313C>A (n.*313C>A) | |
17 | g.42911273C= | CA2260697465 | G6PC1 | c.921C= (p.His307=) c.*313C= (n.*313C=) | |
17 | g.42911273C>G | CA399657064 | G6PC1 | c.921C>G (p.His307Gln) c.*313C>G (n.*313C>G) | |
17 | g.42911273C>T | CA500229831 | G6PC1 | c.921C>T (p.His307=) c.*313C>T (n.*313C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.42911274G>A | CA8587674 | G6PC1 | c.922G>A (p.Val308Ile) c.*314G>A (n.*314G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42911274G>C | CA290790125 | G6PC1 | c.922G>C (p.Val308Leu) c.*314G>C (n.*314G>C) | dbSNP |
17 | g.42911274G= | CA2260697466 | G6PC1 | c.922G= (p.Val308=) c.*314G= (n.*314G=) | |
17 | g.42911274G>T | CA399657070 | G6PC1 | c.922G>T (p.Val308Phe) c.*314G>T (n.*314G>T) | |
17 | g.42911275T>A | CA399657071 | G6PC1 | c.923T>A (p.Val308Asp) c.*315T>A (n.*315T>A) | |
17 | g.42911275T>C | CA399657072 | G6PC1 | c.923T>C (p.Val308Ala) c.*315T>C (n.*315T>C) | gnomAD v4 |
17 | g.42911275T>G | CA399657073 | G6PC1 | c.923T>G (p.Val308Gly) c.*315T>G (n.*315T>G) | |
17 | g.42911276C>A | CA500229833 | G6PC1 | c.924C>A (p.Val308=) c.*316C>A (n.*316C>A) | |
17 | g.42911276C>G | CA500229834 | G6PC1 | c.924C>G (p.Val308=) c.*316C>G (n.*316C>G) | |
17 | g.42911276C>T | CA500229835 | G6PC1 | c.924C>T (p.Val308=) c.*316C>T (n.*316C>T) | COSMIC |
17 | g.42911277T>A | CA399657077 | G6PC1 | c.925T>A (p.Phe309Ile) c.*317T>A (n.*317T>A) | gnomAD v4 |
17 | g.42911277T>C | CA399657076 | G6PC1 | c.925T>C (p.Phe309Leu) c.*317T>C (n.*317T>C) | |
17 | g.42911277T>G | CA399657074 | G6PC1 | c.925T>G (p.Phe309Val) c.*317T>G (n.*317T>G) | |
17 | g.42911279del | CA2695226086 | G6PC1 | c.927del (p.Phe309LeufsTer4) c.*319del (n.*319del) | |
17 | g.42911278T>A | CA399657083 | G6PC1 | c.926T>A (p.Phe309Tyr) c.*318T>A (n.*318T>A) | |
17 | g.42911278T>C | CA399657087 | G6PC1 | c.926T>C (p.Phe309Ser) c.*318T>C (n.*318T>C) | |
17 | g.42911278T>G | CA399657088 | G6PC1 | c.926T>G (p.Phe309Cys) c.*318T>G (n.*318T>G) | |
17 | g.42911279T>A | CA399657090 | G6PC1 | c.927T>A (p.Phe309Leu) c.*319T>A (n.*319T>A) | |
17 | g.42911279T>C | CA500229836 | G6PC1 | c.927T>C (p.Phe309=) c.*319T>C (n.*319T>C) | ClinVar |
17 | g.42911279T>G | CA399657095 | G6PC1 | c.927T>G (p.Phe309Leu) c.*319T>G (n.*319T>G) | |
17 | g.42911280G>A | CA399657097 | G6PC1 | c.928G>A (p.Asp310Asn) c.*320G>A (n.*320G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42911280G>C | CA399657105 | G6PC1 | c.928G>C (p.Asp310His) c.*320G>C (n.*320G>C) | |
17 | g.42911280G= | CA2260697467 | G6PC1 | c.928G= (p.Asp310=) c.*320G= (n.*320G=) | |
17 | g.42911280G>T | CA399657115 | G6PC1 | c.928G>T (p.Asp310Tyr) c.*320G>T (n.*320G>T) | |
17 | g.42911281A>C | CA399657118 | G6PC1 | c.929A>C (p.Asp310Ala) c.*321A>C (n.*321A>C) | |
17 | g.42911281A>G | CA399657124 | G6PC1 | c.929A>G (p.Asp310Gly) c.*321A>G (n.*321A>G) | |
17 | g.42911281A>T | CA399657132 | G6PC1 | c.929A>T (p.Asp310Val) c.*321A>T (n.*321A>T) | |
17 | g.42911282C>A | CA399657136 | G6PC1 | c.930C>A (p.Asp310Glu) c.*322C>A (n.*322C>A) | |
17 | g.42911282C= | CA2260697468 | G6PC1 | c.930C= (p.Asp310=) c.*322C= (n.*322C=) | |
17 | g.42911282C>G | CA399657138 | G6PC1 | c.930C>G (p.Asp310Glu) c.*322C>G (n.*322C>G) | |
17 | g.42911282C>T | CA500229842 | G6PC1 | c.930C>T (p.Asp310=) c.*322C>T (n.*322C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911283T>A | CA399657156 | G6PC1 | c.931T>A (p.Ser311Thr) c.*323T>A (n.*323T>A) | |
17 | g.42911283T>C | CA399657153 | G6PC1 | c.931T>C (p.Ser311Pro) c.*323T>C (n.*323T>C) | |
17 | g.42911283T>G | CA399657155 | G6PC1 | c.931T>G (p.Ser311Ala) c.*323T>G (n.*323T>G) | |
17 | g.42911284C>A | CA399657160 | G6PC1 | c.932C>A (p.Ser311Tyr) c.*324C>A (n.*324C>A) | gnomAD v4 |
17 | g.42911284C>G | CA399657164 | G6PC1 | c.932C>G (p.Ser311Cys) c.*324C>G (n.*324C>G) | |
17 | g.42911284C>T | CA399657163 | G6PC1 | c.932C>T (p.Ser311Phe) c.*324C>T (n.*324C>T) | COSMIC |
17 | g.42911285C>A | CA500229845 | G6PC1 | c.933C>A (p.Ser311=) c.*325C>A (n.*325C>A) | dbSNP |
17 | g.42911285C= | CA2260697469 | G6PC1 | c.933C= (p.Ser311=) c.*325C= (n.*325C=) | |
17 | g.42911285C>G | CA500229846 | G6PC1 | c.933C>G (p.Ser311=) c.*325C>G (n.*325C>G) | |
17 | g.42911285C>T | CA500229849 | G6PC1 | c.933C>T (p.Ser311=) c.*325C>T (n.*325C>T) | dbSNP gnomAD v4 |
17 | g.42911286T>A | CA399657165 | G6PC1 | c.934T>A (p.Leu312Met) c.*326T>A (n.*326T>A) | |
17 | g.42911286T>C | CA500229851 | G6PC1 | c.934T>C (p.Leu312=) c.*326T>C (n.*326T>C) | |
17 | g.42911286T>G | CA399657166 | G6PC1 | c.934T>G (p.Leu312Val) c.*326T>G (n.*326T>G) | |
17 | g.42911287T>A | CA399657167 | G6PC1 | c.935T>A (p.Leu312Ter) c.*327T>A (n.*327T>A) | |
17 | g.42911287T>C | CA399657171 | G6PC1 | c.935T>C (p.Leu312Ser) c.*327T>C (n.*327T>C) | |
17 | g.42911287T>G | CA399657169 | G6PC1 | c.935T>G (p.Leu312Trp) c.*327T>G (n.*327T>G) | |
17 | g.42911288G>A | CA500229852 | G6PC1 | c.936G>A (p.Leu312=) c.*328G>A (n.*328G>A) | |
17 | g.42911288G>C | CA399657175 | G6PC1 | c.936G>C (p.Leu312Phe) c.*328G>C (n.*328G>C) | gnomAD v4 |
17 | g.42911288G>T | CA399657179 | G6PC1 | c.936G>T (p.Leu312Phe) c.*328G>T (n.*328G>T) | |
17 | g.42911289A>C | CA399657184 | G6PC1 | c.937A>C (p.Lys313Gln) c.*329A>C (n.*329A>C) | |
17 | g.42911289A>G | CA399657187 | G6PC1 | c.937A>G (p.Lys313Glu) c.*329A>G (n.*329A>G) | |
17 | g.42911289A>T | CA399657189 | G6PC1 | c.937A>T (p.Lys313Ter) c.*329A>T (n.*329A>T) | |
17 | g.42911290A>C | CA399657192 | G6PC1 | c.938A>C (p.Lys313Thr) c.*330A>C (n.*330A>C) | |
17 | g.42911290A>G | CA399657194 | G6PC1 | c.938A>G (p.Lys313Arg) c.*330A>G (n.*330A>G) | |
17 | g.42911290A>T | CA399657195 | G6PC1 | c.938A>T (p.Lys313Ile) c.*330A>T (n.*330A>T) | |
17 | g.42911291A= | CA2260697470 | G6PC1 | c.939A= (p.Lys313=) c.*331A= (n.*331A=) | |
17 | g.42911291A>C | CA399657196 | G6PC1 | c.939A>C (p.Lys313Asn) c.*331A>C (n.*331A>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911291A>G | CA500229857 | G6PC1 | c.939A>G (p.Lys313=) c.*331A>G (n.*331A>G) | |
17 | g.42911291A>T | CA399657197 | G6PC1 | c.939A>T (p.Lys313Asn) c.*331A>T (n.*331A>T) | |
17 | g.42911292C>A | CA399657202 | G6PC1 | c.940C>A (p.Pro314Thr) c.*332C>A (n.*332C>A) | |
17 | g.42911292C= | CA2260697471 | G6PC1 | c.940C= (p.Pro314=) c.*332C= (n.*332C=) | |
17 | g.42911292C>G | CA399657201 | G6PC1 | c.940C>G (p.Pro314Ala) c.*332C>G (n.*332C>G) | |
17 | g.42911292C>T | CA399657200 | G6PC1 | c.940C>T (p.Pro314Ser) c.*332C>T (n.*332C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911296dup | CA2638041600 | G6PC1 | c.944dup (p.Ser316IlefsTer?) c.*336dup (n.*336dup) | gnomAD v4 |
17 | g.42911293C>A | CA399657204 | G6PC1 | c.941C>A (p.Pro314His) c.*333C>A (n.*333C>A) | |
17 | g.42911293C= | CA2260697472 | G6PC1 | c.941C= (p.Pro314=) c.*333C= (n.*333C=) | |
17 | g.42911293C>G | CA399657206 | G6PC1 | c.941C>G (p.Pro314Arg) c.*333C>G (n.*333C>G) | |
17 | g.42911293C>T | CA8587675 | G6PC1 | c.941C>T (p.Pro314Leu) c.*333C>T (n.*333C>T) | dbSNP ExAC gnomAD v2 |
17 | g.42911294C>A | CA8587677 | G6PC1 | c.942C>A (p.Pro314=) c.*334C>A (n.*334C>A) | dbSNP ExAC gnomAD v2 |
17 | g.42911294C= | CA2260697473 | G6PC1 | c.942C= (p.Pro314=) c.*334C= (n.*334C=) | |
17 | g.42911294C>G | CA8587676 | G6PC1 | c.942C>G (p.Pro314=) c.*334C>G (n.*334C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911294C>T | CA500229861 | G6PC1 | c.942C>T (p.Pro314=) c.*334C>T (n.*334C>T) | |
17 | g.42911295C>A | CA399657216 | G6PC1 | c.943C>A (p.Pro315Thr) c.*335C>A (n.*335C>A) | |
17 | g.42911295C= | CA2260697474 | G6PC1 | c.943C= (p.Pro315=) c.*335C= (n.*335C=) | |
17 | g.42911295C>G | CA323719 | G6PC1 | c.943C>G (p.Pro315Ala) c.*335C>G (n.*335C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911295C>T | CA399657220 | G6PC1 | c.943C>T (p.Pro315Ser) c.*335C>T (n.*335C>T) | dbSNP COSMIC |
17 | g.42911296C>A | CA399657224 | G6PC1 | c.944C>A (p.Pro315Gln) c.*336C>A (n.*336C>A) | |
17 | g.42911296C= | CA2260697475 | G6PC1 | c.944C= (p.Pro315=) c.*336C= (n.*336C=) | |
17 | g.42911296C>G | CA399657227 | G6PC1 | c.944C>G (p.Pro315Arg) c.*336C>G (n.*336C>G) | |
17 | g.42911296C>T | CA8587678 | G6PC1 | c.944C>T (p.Pro315Leu) c.*336C>T (n.*336C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911297A= | CA2260697476 | G6PC1 | c.945A= (p.Pro315=) c.*337A= (n.*337A=) | |
17 | g.42911297A>C | CA500229864 | G6PC1 | c.945A>C (p.Pro315=) c.*337A>C (n.*337A>C) | |
17 | g.42911297A>G | CA500229866 | G6PC1 | c.945A>G (p.Pro315=) c.*337A>G (n.*337A>G) | ClinVar dbSNP |
17 | g.42911297A>T | CA500229867 | G6PC1 | c.945A>T (p.Pro315=) c.*337A>T (n.*337A>T) | dbSNP |
17 | g.42911298T>A | CA399657236 | G6PC1 | c.946T>A (p.Ser316Thr) c.*338T>A (n.*338T>A) | |
17 | g.42911298T>C | CA399657238 | G6PC1 | c.946T>C (p.Ser316Pro) c.*338T>C (n.*338T>C) | COSMIC |
17 | g.42911298T>G | CA399657235 | G6PC1 | c.946T>G (p.Ser316Ala) c.*338T>G (n.*338T>G) | |
17 | g.42911299C>A | CA399657241 | G6PC1 | c.947C>A (p.Ser316Tyr) c.*339C>A (n.*339C>A) | gnomAD v4 |
17 | g.42911299C>G | CA399657243 | G6PC1 | c.947C>G (p.Ser316Cys) c.*339C>G (n.*339C>G) | gnomAD v4 |
17 | g.42911299C>T | CA399657246 | G6PC1 | c.947C>T (p.Ser316Phe) c.*339C>T (n.*339C>T) | |
17 | g.42911300C>A | CA8587679 | G6PC1 | c.948C>A (p.Ser316=) c.*340C>A (n.*340C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911300C= | CA2260697477 | G6PC1 | c.948C= (p.Ser316=) c.*340C= (n.*340C=) | |
17 | g.42911300C>G | CA500229870 | G6PC1 | c.948C>G (p.Ser316=) c.*340C>G (n.*340C>G) | |
17 | g.42911300C>T | CA8587680 | G6PC1 | c.948C>T (p.Ser316=) c.*340C>T (n.*340C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.42911301C>A | CA399657259 | G6PC1 | c.949C>A (p.Gln317Lys) c.*341C>A (n.*341C>A) | |
17 | g.42911301C>G | CA399657257 | G6PC1 | c.949C>G (p.Gln317Glu) c.*341C>G (n.*341C>G) | |
17 | g.42911301C>T | CA399657258 | G6PC1 | c.949C>T (p.Gln317Ter) c.*341C>T (n.*341C>T) | |
17 | g.42911302A>C | CA399657261 | G6PC1 | c.950A>C (p.Gln317Pro) c.*342A>C (n.*342A>C) | |
17 | g.42911302A>G | CA399657263 | G6PC1 | c.950A>G (p.Gln317Arg) c.*342A>G (n.*342A>G) | |
17 | g.42911302A>T | CA399657266 | G6PC1 | c.950A>T (p.Gln317Leu) c.*342A>T (n.*342A>T) | |
17 | g.42911303A= | CA2260697478 | G6PC1 | c.951A= (p.Gln317=) c.*343A= (n.*343A=) | |
17 | g.42911303A>C | CA399657268 | G6PC1 | c.951A>C (p.Gln317His) c.*343A>C (n.*343A>C) | |
17 | g.42911303A>G | CA500229877 | G6PC1 | c.951A>G (p.Gln317=) c.*343A>G (n.*343A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911303A>T | CA399657270 | G6PC1 | c.951A>T (p.Gln317His) c.*343A>T (n.*343A>T) | |
17 | g.42911304G>A | CA399657274 | G6PC1 | c.952G>A (p.Val318Ile) c.*344G>A (n.*344G>A) | |
17 | g.42911304G>C | CA399657278 | G6PC1 | c.952G>C (p.Val318Leu) c.*344G>C (n.*344G>C) | |
17 | g.42911304G= | CA2260697479 | G6PC1 | c.952G= (p.Val318=) c.*344G= (n.*344G=) | |
17 | g.42911304G>T | CA399657276 | G6PC1 | c.952G>T (p.Val318Phe) c.*344G>T (n.*344G>T) | |
17 | g.42911304_42911305insGT | CA658824740 | G6PC1 | c.952_953insGT (p.Val318GlyfsTer16) c.*344_*345insGT (n.*344_*345insGT) | ClinVar dbSNP |
17 | g.42911305T>A | CA399657281 | G6PC1 | c.953T>A (p.Val318Asp) c.*345T>A (n.*345T>A) | |
17 | g.42911305T>C | CA399657285 | G6PC1 | c.953T>C (p.Val318Ala) c.*345T>C (n.*345T>C) | dbSNP gnomAD v4 |
17 | g.42911305T>G | CA399657290 | G6PC1 | c.953T>G (p.Val318Gly) c.*345T>G (n.*345T>G) | dbSNP |
17 | g.42911305T= | CA2260697480 | G6PC1 | c.953T= (p.Val318=) c.*345T= (n.*345T=) | |
17 | g.42911306C>A | CA8587682 | G6PC1 | c.954C>A (p.Val318=) c.*346C>A (n.*346C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911306C= | CA2260697481 | G6PC1 | c.954C= (p.Val318=) c.*346C= (n.*346C=) | |
17 | g.42911306C>G | CA500229881 | G6PC1 | c.954C>G (p.Val318=) c.*346C>G (n.*346C>G) | |
17 | g.42911306C>T | CA8587681 | G6PC1 | c.954C>T (p.Val318=) c.*346C>T (n.*346C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.42911307G>A | CA8587683 | G6PC1 | c.955G>A (p.Glu319Lys) c.*347G>A (n.*347G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.42911307G>C | CA399657298 | G6PC1 | c.955G>C (p.Glu319Gln) c.*347G>C (n.*347G>C) | |
17 | g.42911307G= | CA2260697482 | G6PC1 | c.955G= (p.Glu319=) c.*347G= (n.*347G=) | |
17 | g.42911307G>T | CA399657300 | G6PC1 | c.955G>T (p.Glu319Ter) c.*347G>T (n.*347G>T) | |
17 | g.42911308A>C | CA399657303 | G6PC1 | c.956A>C (p.Glu319Ala) c.*348A>C (n.*348A>C) | |
17 | g.42911308A>G | CA399657306 | G6PC1 | c.956A>G (p.Glu319Gly) c.*348A>G (n.*348A>G) | |
17 | g.42911308A>T | CA399657308 | G6PC1 | c.956A>T (p.Glu319Val) c.*348A>T (n.*348A>T) | |
17 | g.42911309G>A | CA290790151 | G6PC1 | c.957G>A (p.Glu319=) c.*349G>A (n.*349G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42911309G>C | CA399657313 | G6PC1 | c.957G>C (p.Glu319Asp) c.*349G>C (n.*349G>C) | dbSNP |
17 | g.42911309G= | CA2260697483 | G6PC1 | c.957G= (p.Glu319=) c.*349G= (n.*349G=) | |
17 | g.42911309G>T | CA399657312 | G6PC1 | c.957G>T (p.Glu319Asp) c.*349G>T (n.*349G>T) | COSMIC |
17 | g.42911310C>A | CA399657315 | G6PC1 | c.958C>A (p.Leu320Met) c.*350C>A (n.*350C>A) | |
17 | g.42911310C>G | CA399657316 | G6PC1 | c.958C>G (p.Leu320Val) c.*350C>G (n.*350C>G) | |
17 | g.42911310C>T | CA500229888 | G6PC1 | c.958C>T (p.Leu320=) c.*350C>T (n.*350C>T) | |
17 | g.42911311T>A | CA399657317 | G6PC1 | c.959T>A (p.Leu320Gln) c.*351T>A (n.*351T>A) | |
17 | g.42911311T>C | CA399657318 | G6PC1 | c.959T>C (p.Leu320Pro) c.*351T>C (n.*351T>C) | gnomAD v4 |
17 | g.42911311T>G | CA399657319 | G6PC1 | c.959T>G (p.Leu320Arg) c.*351T>G (n.*351T>G) | |
17 | g.42911312G>A | CA500229891 | G6PC1 | c.960G>A (p.Leu320=) c.*352G>A (n.*352G>A) | ClinVar |
17 | g.42911312G>C | CA500229893 | G6PC1 | c.960G>C (p.Leu320=) c.*352G>C (n.*352G>C) | |
17 | g.42911312G= | CA2260697484 | G6PC1 | c.960G= (p.Leu320=) c.*352G= (n.*352G=) | |
17 | g.42911312G>T | CA8587684 | G6PC1 | c.960G>T (p.Leu320=) c.*352G>T (n.*352G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911313G>A | CA8587685 | G6PC1 | c.961G>A (p.Val321Ile) c.*353G>A (n.*353G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911313G>C | CA399657322 | G6PC1 | c.961G>C (p.Val321Leu) c.*353G>C (n.*353G>C) | |
17 | g.42911313G= | CA2260697485 | G6PC1 | c.961G= (p.Val321=) c.*353G= (n.*353G=) | |
17 | g.42911313G>T | CA399657321 | G6PC1 | c.961G>T (p.Val321Phe) c.*353G>T (n.*353G>T) | gnomAD v4 |
17 | g.42911314T>A | CA399657323 | G6PC1 | c.962T>A (p.Val321Asp) c.*354T>A (n.*354T>A) | gnomAD v4 |
17 | g.42911314T>C | CA399657324 | G6PC1 | c.962T>C (p.Val321Ala) c.*354T>C (n.*354T>C) | gnomAD v4 |
17 | g.42911314T>G | CA399657325 | G6PC1 | c.962T>G (p.Val321Gly) c.*354T>G (n.*354T>G) | gnomAD v4 |
17 | g.42911315C>A | CA500229896 | G6PC1 | c.963C>A (p.Val321=) c.*355C>A (n.*355C>A) | |
17 | g.42911315C>G | CA500229900 | G6PC1 | c.963C>G (p.Val321=) c.*355C>G (n.*355C>G) | |
17 | g.42911315C>T | CA500229898 | G6PC1 | c.963C>T (p.Val321=) c.*355C>T (n.*355C>T) | |
17 | g.42911316T>A | CA399657327 | G6PC1 | c.964T>A (p.Phe322Ile) c.*356T>A (n.*356T>A) | |
17 | g.42911316T>C | CA399657329 | G6PC1 | c.964T>C (p.Phe322Leu) c.*356T>C (n.*356T>C) | ClinVar |
17 | g.42911316T>G | CA399657340 | G6PC1 | c.964T>G (p.Phe322Val) c.*356T>G (n.*356T>G) | ClinVar dbSNP gnomAD v4 |
17 | g.42911316T= | CA2260697486 | G6PC1 | c.964T= (p.Phe322=) c.*356T= (n.*356T=) | |
17 | g.42911317del | CA2695226087 | G6PC1 | c.965del (p.Phe322SerfsTer11) c.*357del (n.*357del) | |
17 | g.42911317T>A | CA324941 | G6PC1 | c.965T>A (p.Phe322Tyr) c.*357T>A (n.*357T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911317T>C | CA399657348 | G6PC1 | c.965T>C (p.Phe322Ser) c.*357T>C (n.*357T>C) | |
17 | g.42911317T>G | CA399657345 | G6PC1 | c.965T>G (p.Phe322Cys) c.*357T>G (n.*357T>G) | |
17 | g.42911317T= | CA2260697487 | G6PC1 | c.965T= (p.Phe322=) c.*357T= (n.*357T=) | |
17 | g.42911318C>A | CA399657352 | G6PC1 | c.966C>A (p.Phe322Leu) c.*358C>A (n.*358C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911318C= | CA2260697488 | G6PC1 | c.966C= (p.Phe322=) c.*358C= (n.*358C=) | |
17 | g.42911318C>G | CA399657354 | G6PC1 | c.966C>G (p.Phe322Leu) c.*358C>G (n.*358C>G) | |
17 | g.42911318C>T | CA500229902 | G6PC1 | c.966C>T (p.Phe322=) c.*358C>T (n.*358C>T) | ClinVar dbSNP |
17 | g.42911319T>A | CA399657358 | G6PC1 | c.967T>A (p.Tyr323Asn) c.*359T>A (n.*359T>A) | |
17 | g.42911319T>C | CA399657361 | G6PC1 | c.967T>C (p.Tyr323His) c.*359T>C (n.*359T>C) | |
17 | g.42911319T>G | CA399657362 | G6PC1 | c.967T>G (p.Tyr323Asp) c.*359T>G (n.*359T>G) | |
17 | g.42911320A>C | CA399657365 | G6PC1 | c.968A>C (p.Tyr323Ser) c.*360A>C (n.*360A>C) | |
17 | g.42911320A>G | CA399657367 | G6PC1 | c.968A>G (p.Tyr323Cys) c.*360A>G (n.*360A>G) | |
17 | g.42911320A>T | CA399657369 | G6PC1 | c.968A>T (p.Tyr323Phe) c.*360A>T (n.*360A>T) | |
17 | g.42911321C>A | CA273945 | G6PC1 | c.969C>A (p.Tyr323Ter) c.*361C>A (n.*361C>A) | ClinVar dbSNP ExAC gnomAD v4 |
17 | g.42911321C= | CA2260697489 | G6PC1 | c.969C= (p.Tyr323=) c.*361C= (n.*361C=) | |
17 | g.42911321C>G | CA399657374 | G6PC1 | c.969C>G (p.Tyr323Ter) c.*361C>G (n.*361C>G) | |
17 | g.42911321C>T | CA8587686 | G6PC1 | c.969C>T (p.Tyr323=) c.*361C>T (n.*361C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911322G>A | CA8587687 | G6PC1 | c.970G>A (p.Val324Ile) c.*362G>A (n.*362G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42911322G>C | CA399657382 | G6PC1 | c.970G>C (p.Val324Leu) c.*362G>C (n.*362G>C) | |
17 | g.42911322G= | CA2260697490 | G6PC1 | c.970G= (p.Val324=) c.*362G= (n.*362G=) | |
17 | g.42911322G>T | CA399657379 | G6PC1 | c.970G>T (p.Val324Phe) c.*362G>T (n.*362G>T) | |
17 | g.42911323T>A | CA399657384 | G6PC1 | c.971T>A (p.Val324Asp) c.*363T>A (n.*363T>A) | |
17 | g.42911323T>C | CA399657386 | G6PC1 | c.971T>C (p.Val324Ala) c.*363T>C (n.*363T>C) | |
17 | g.42911323T>G | CA399657389 | G6PC1 | c.971T>G (p.Val324Gly) c.*363T>G (n.*363T>G) | |
17 | g.42911324C>A | CA500229419 | G6PC1 | c.972C>A (p.Val324=) c.*364C>A (n.*364C>A) | COSMIC |
17 | g.42911324C>G | CA500229420 | G6PC1 | c.972C>G (p.Val324=) c.*364C>G (n.*364C>G) | |
17 | g.42911324C>T | CA500229421 | G6PC1 | c.972C>T (p.Val324=) c.*364C>T (n.*364C>T) | |
17 | g.42911325T>A | CA399657392 | G6PC1 | c.973T>A (p.Leu325Met) c.*365T>A (n.*365T>A) | |
17 | g.42911325T>C | CA500229422 | G6PC1 | c.973T>C (p.Leu325=) c.*365T>C (n.*365T>C) | |
17 | g.42911325T>G | CA399657394 | G6PC1 | c.973T>G (p.Leu325Val) c.*365T>G (n.*365T>G) | |
17 | g.42911326T>A | CA399657396 | G6PC1 | c.974T>A (p.Leu325Ter) c.*366T>A (n.*366T>A) | |
17 | g.42911326T>C | CA8587688 | G6PC1 | c.974T>C (p.Leu325Ser) c.*366T>C (n.*366T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911326T>G | CA399657404 | G6PC1 | c.974T>G (p.Leu325Trp) c.*366T>G (n.*366T>G) | |
17 | g.42911326T= | CA2260697491 | G6PC1 | c.974T= (p.Leu325=) c.*366T= (n.*366T=) | |
17 | g.42911327G>A | CA500229423 | G6PC1 | c.975G>A (p.Leu325=) c.*367G>A (n.*367G>A) | |
17 | g.42911327G>C | CA399657407 | G6PC1 | c.975G>C (p.Leu325Phe) c.*367G>C (n.*367G>C) | |
17 | g.42911327G>T | CA399657411 | G6PC1 | c.975G>T (p.Leu325Phe) c.*367G>T (n.*367G>T) | |
17 | g.42911328T>A | CA399657413 | G6PC1 | c.976T>A (p.Ser326Thr) c.*368T>A (n.*368T>A) | |
17 | g.42911328T>C | CA399657419 | G6PC1 | c.976T>C (p.Ser326Pro) c.*368T>C (n.*368T>C) | |
17 | g.42911328T>G | CA399657421 | G6PC1 | c.976T>G (p.Ser326Ala) c.*368T>G (n.*368T>G) | |
17 | g.42911329C>A | CA399657423 | G6PC1 | c.977C>A (p.Ser326Tyr) c.*369C>A (n.*369C>A) | |
17 | g.42911329C= | CA2260697493 | G6PC1 | c.977C= (p.Ser326=) c.*369C= (n.*369C=) | |
17 | g.42911329C>G | CA8587689 | G6PC1 | c.977C>G (p.Ser326Cys) c.*369C>G (n.*369C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911329C>T | CA399657425 | G6PC1 | c.977C>T (p.Ser326Phe) c.*369C>T (n.*369C>T) | gnomAD v4 |
17 | g.42911329_42911332delinsCCTT | CA2260697492 | G6PC1 | c.977_980delinsCCTT (p.Ser326=) c.*369_*372delinsCCTT (n.*369_*372delinsCCTT) | |
17 | g.42911330C>A | CA500229424 | G6PC1 | c.978C>A (p.Ser326=) c.*370C>A (n.*370C>A) | |
17 | g.42911330C>G | CA500229425 | G6PC1 | c.978C>G (p.Ser326=) c.*370C>G (n.*370C>G) | |
17 | g.42911330C>T | CA500229426 | G6PC1 | c.978C>T (p.Ser326=) c.*370C>T (n.*370C>T) | |
17 | g.42911332_42911334del | CA341570 | G6PC1 | c.980_982del (p.Phe327del) c.*372_*374del (n.*372_*374del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911331T>A | CA399657437 | G6PC1 | c.979T>A (p.Phe327Ile) c.*371T>A (n.*371T>A) | |
17 | g.42911331T>C | CA399657439 | G6PC1 | c.979T>C (p.Phe327Leu) c.*371T>C (n.*371T>C) | |
17 | g.42911331T>G | CA399657440 | G6PC1 | c.979T>G (p.Phe327Val) c.*371T>G (n.*371T>G) | |
17 | g.42911331_42911332del | CA2695226088 | G6PC1 | c.979_980del (p.Phe327LeufsTer?) c.*371_*372del (n.*371_*372del) | |
17 | g.42911332dup | CA2809535966 | G6PC1 | c.980dup (p.Cys328LeufsTer?) c.*372dup (n.*372dup) | |
17 | g.42911332T>A | CA399657442 | G6PC1 | c.980T>A (p.Phe327Tyr) c.*372T>A (n.*372T>A) | |
17 | g.42911332T>C | CA399657443 | G6PC1 | c.980T>C (p.Phe327Ser) c.*372T>C (n.*372T>C) | |
17 | g.42911332T>G | CA399657445 | G6PC1 | c.980T>G (p.Phe327Cys) c.*372T>G (n.*372T>G) | |
17 | g.42911333C>A | CA399657448 | G6PC1 | c.981C>A (p.Phe327Leu) c.*373C>A (n.*373C>A) | |
17 | g.42911333C>G | CA399657450 | G6PC1 | c.981C>G (p.Phe327Leu) c.*373C>G (n.*373C>G) | |
17 | g.42911333C>T | CA500229427 | G6PC1 | c.981C>T (p.Phe327=) c.*373C>T (n.*373C>T) | gnomAD v4 COSMIC |
17 | g.42911334T>A | CA399657457 | G6PC1 | c.982T>A (p.Cys328Ser) c.*374T>A (n.*374T>A) | |
17 | g.42911334T>C | CA399657454 | G6PC1 | c.982T>C (p.Cys328Arg) c.*374T>C (n.*374T>C) | |
17 | g.42911334T>G | CA399657453 | G6PC1 | c.982T>G (p.Cys328Gly) c.*374T>G (n.*374T>G) | |
17 | g.42911335G>A | CA399657462 | G6PC1 | c.983G>A (p.Cys328Tyr) c.*375G>A (n.*375G>A) | gnomAD v4 |
17 | g.42911335G>C | CA399657461 | G6PC1 | c.983G>C (p.Cys328Ser) c.*375G>C (n.*375G>C) | |
17 | g.42911335G>T | CA399657464 | G6PC1 | c.983G>T (p.Cys328Phe) c.*375G>T (n.*375G>T) | |
17 | g.42911336C>A | CA399657466 | G6PC1 | c.984C>A (p.Cys328Ter) c.*376C>A (n.*376C>A) | gnomAD v4 |
17 | g.42911336C>G | CA399657467 | G6PC1 | c.984C>G (p.Cys328Trp) c.*376C>G (n.*376C>G) | gnomAD v4 |
17 | g.42911336C>T | CA500229428 | G6PC1 | c.984C>T (p.Cys328=) c.*376C>T (n.*376C>T) | |
17 | g.42911337A>C | CA399657470 | G6PC1 | c.985A>C (p.Lys329Gln) c.*377A>C (n.*377A>C) | |
17 | g.42911337A>G | CA399657471 | G6PC1 | c.985A>G (p.Lys329Glu) c.*377A>G (n.*377A>G) | |
17 | g.42911337A>T | CA399657473 | G6PC1 | c.985A>T (p.Lys329Ter) c.*377A>T (n.*377A>T) | |
17 | g.42911338A>C | CA399657476 | G6PC1 | c.986A>C (p.Lys329Thr) c.*378A>C (n.*378A>C) | |
17 | g.42911338A>G | CA399657479 | G6PC1 | c.986A>G (p.Lys329Arg) c.*378A>G (n.*378A>G) | |
17 | g.42911338A>T | CA399657480 | G6PC1 | c.986A>T (p.Lys329Met) c.*378A>T (n.*378A>T) | |
17 | g.42911339G>A | CA500229429 | G6PC1 | c.987G>A (p.Lys329=) c.*379G>A (n.*379G>A) | |
17 | g.42911339G>C | CA399657483 | G6PC1 | c.987G>C (p.Lys329Asn) c.*379G>C (n.*379G>C) | |
17 | g.42911339G>T | CA399657486 | G6PC1 | c.987G>T (p.Lys329Asn) c.*379G>T (n.*379G>T) | |
17 | g.42911340A>C | CA399657487 | G6PC1 | c.988A>C (p.Ser330Arg) c.*380A>C (n.*380A>C) | |
17 | g.42911340A>G | CA399657488 | G6PC1 | c.988A>G (p.Ser330Gly) c.*380A>G (n.*380A>G) | |
17 | g.42911340A>T | CA399657489 | G6PC1 | c.988A>T (p.Ser330Cys) c.*380A>T (n.*380A>T) | |
17 | g.42911341G>A | CA399657490 | G6PC1 | c.989G>A (p.Ser330Asn) c.*381G>A (n.*381G>A) | gnomAD v4 |
17 | g.42911341G>C | CA399657492 | G6PC1 | c.989G>C (p.Ser330Thr) c.*381G>C (n.*381G>C) | |
17 | g.42911341G>T | CA399657491 | G6PC1 | c.989G>T (p.Ser330Ile) c.*381G>T (n.*381G>T) | |
17 | g.42911342T>A | CA399657493 | G6PC1 | c.990T>A (p.Ser330Arg) c.*382T>A (n.*382T>A) | |
17 | g.42911342T>C | CA8587690 | G6PC1 | c.990T>C (p.Ser330=) c.*382T>C (n.*382T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911342T>G | CA399657494 | G6PC1 | c.990T>G (p.Ser330Arg) c.*382T>G (n.*382T>G) | ClinVar dbSNP |
17 | g.42911342T= | CA2260697494 | G6PC1 | c.990T= (p.Ser330=) c.*382T= (n.*382T=) | |
17 | g.42911343G>A | CA399657495 | G6PC1 | c.991G>A (p.Ala331Thr) c.*383G>A (n.*383G>A) | gnomAD v4 |
17 | g.42911343G>C | CA399657496 | G6PC1 | c.991G>C (p.Ala331Pro) c.*383G>C (n.*383G>C) | |
17 | g.42911343G>T | CA399657498 | G6PC1 | c.991G>T (p.Ala331Ser) c.*383G>T (n.*383G>T) | |
17 | g.42911344C>A | CA399657501 | G6PC1 | c.992C>A (p.Ala331Glu) c.*384C>A (n.*384C>A) | |
17 | g.42911344C= | CA2260697495 | G6PC1 | c.992C= (p.Ala331=) c.*384C= (n.*384C=) | |
17 | g.42911344C>G | CA399657503 | G6PC1 | c.992C>G (p.Ala331Gly) c.*384C>G (n.*384C>G) | gnomAD v4 |
17 | g.42911344C>T | CA8587691 | G6PC1 | c.992C>T (p.Ala331Val) c.*384C>T (n.*384C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42911345G>A | CA8587692 | G6PC1 | c.993G>A (p.Ala331=) c.*385G>A (n.*385G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911345G>C | CA8587693 | G6PC1 | c.993G>C (p.Ala331=) c.*385G>C (n.*385G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911345G= | CA2260697496 | G6PC1 | c.993G= (p.Ala331=) c.*385G= (n.*385G=) | |
17 | g.42911345G>T | CA500229432 | G6PC1 | c.993G>T (p.Ala331=) c.*385G>T (n.*385G>T) | |
17 | g.42911346G>A | CA399657518 | G6PC1 | c.994G>A (p.Val332Ile) c.*386G>A (n.*386G>A) | |
17 | g.42911346G>C | CA399657516 | G6PC1 | c.994G>C (p.Val332Leu) c.*386G>C (n.*386G>C) | |
17 | g.42911346G>T | CA399657514 | G6PC1 | c.994G>T (p.Val332Leu) c.*386G>T (n.*386G>T) | |
17 | g.42911347T>A | CA399657524 | G6PC1 | c.995T>A (p.Val332Glu) c.*387T>A (n.*387T>A) | |
17 | g.42911347T>C | CA399657519 | G6PC1 | c.995T>C (p.Val332Ala) c.*387T>C (n.*387T>C) | |
17 | g.42911347T>G | CA399657522 | G6PC1 | c.995T>G (p.Val332Gly) c.*387T>G (n.*387T>G) | |
17 | g.42911348A>C | CA500229435 | G6PC1 | c.996A>C (p.Val332=) c.*388A>C (n.*388A>C) | |
17 | g.42911348A>G | CA500229436 | G6PC1 | c.996A>G (p.Val332=) c.*388A>G (n.*388A>G) | |
17 | g.42911348A>T | CA500229437 | G6PC1 | c.996A>T (p.Val332=) c.*388A>T (n.*388A>T) | |
17 | g.42911349G>A | CA399657526 | G6PC1 | c.997G>A (p.Val333Met) c.*389G>A (n.*389G>A) | |
17 | g.42911349G>C | CA399657527 | G6PC1 | c.997G>C (p.Val333Leu) c.*389G>C (n.*389G>C) | |
17 | g.42911349G>T | CA399657531 | G6PC1 | c.997G>T (p.Val333Leu) c.*389G>T (n.*389G>T) | |
17 | g.42911350T>A | CA399657533 | G6PC1 | c.998T>A (p.Val333Glu) c.*390T>A (n.*390T>A) | |
17 | g.42911350T>C | CA399657535 | G6PC1 | c.998T>C (p.Val333Ala) c.*390T>C (n.*390T>C) | |
17 | g.42911350T>G | CA399657538 | G6PC1 | c.998T>G (p.Val333Gly) c.*390T>G (n.*390T>G) | |
17 | g.42911351G>A | CA500229440 | G6PC1 | c.999G>A (p.Val333=) c.*391G>A (n.*391G>A) | ClinVar dbSNP |
17 | g.42911351G>C | CA500229442 | G6PC1 | c.999G>C (p.Val333=) c.*391G>C (n.*391G>C) | |
17 | g.42911351G>T | CA500229441 | G6PC1 | c.999G>T (p.Val333=) c.*391G>T (n.*391G>T) | |
17 | g.42911352C>A | CA399657541 | G6PC1 | c.1000C>A (p.Pro334Thr) c.*392C>A (n.*392C>A) | |
17 | g.42911352C= | CA2260697497 | G6PC1 | c.1000C= (p.Pro334=) c.*392C= (n.*392C=) | |
17 | g.42911352C>G | CA399657543 | G6PC1 | c.1000C>G (p.Pro334Ala) c.*392C>G (n.*392C>G) | |
17 | g.42911352C>T | CA8587694 | G6PC1 | c.1000C>T (p.Pro334Ser) c.*392C>T (n.*392C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911353C>A | CA399657547 | G6PC1 | c.1001C>A (p.Pro334His) c.*393C>A (n.*393C>A) | |
17 | g.42911353C= | CA2260697498 | G6PC1 | c.1001C= (p.Pro334=) c.*393C= (n.*393C=) | |
17 | g.42911353C>G | CA399657549 | G6PC1 | c.1001C>G (p.Pro334Arg) c.*393C>G (n.*393C>G) | |
17 | g.42911353C>T | CA399657551 | G6PC1 | c.1001C>T (p.Pro334Leu) c.*393C>T (n.*393C>T) | dbSNP gnomAD v2 |
17 | g.42911354C>A | CA500229444 | G6PC1 | c.1002C>A (p.Pro334=) c.*394C>A (n.*394C>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911354C= | CA2260697499 | G6PC1 | c.1002C= (p.Pro334=) c.*394C= (n.*394C=) | |
17 | g.42911354C>G | CA500229443 | G6PC1 | c.1002C>G (p.Pro334=) c.*394C>G (n.*394C>G) | |
17 | g.42911354C>T | CA8587695 | G6PC1 | c.1002C>T (p.Pro334=) c.*394C>T (n.*394C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911355C>A | CA399657556 | G6PC1 | c.1003C>A (p.Leu335Met) c.*395C>A (n.*395C>A) | |
17 | g.42911355C= | CA2260697500 | G6PC1 | c.1003C= (p.Leu335=) c.*395C= (n.*395C=) | |
17 | g.42911355C>G | CA399657558 | G6PC1 | c.1003C>G (p.Leu335Val) c.*395C>G (n.*395C>G) | |
17 | g.42911355C>T | CA500229445 | G6PC1 | c.1003C>T (p.Leu335=) c.*395C>T (n.*395C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911356del | CA2638041653 | G6PC1 | c.1004del (p.Leu335ArgfsTer?) c.*396del (n.*396del) | ClinVar gnomAD v4 |
17 | g.42911356T>A | CA399657560 | G6PC1 | c.1004T>A (p.Leu335Gln) c.*396T>A (n.*396T>A) | |
17 | g.42911356T>C | CA8587696 | G6PC1 | c.1004T>C (p.Leu335Pro) c.*396T>C (n.*396T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911356T>G | CA399657564 | G6PC1 | c.1004T>G (p.Leu335Arg) c.*396T>G (n.*396T>G) | |
17 | g.42911356T= | CA2260697501 | G6PC1 | c.1004T= (p.Leu335=) c.*396T= (n.*396T=) | |
17 | g.42911357G>A | CA500229447 | G6PC1 | c.1005G>A (p.Leu335=) c.*397G>A (n.*397G>A) | ClinVar |
17 | g.42911357G>C | CA500229448 | G6PC1 | c.1005G>C (p.Leu335=) c.*397G>C (n.*397G>C) | |
17 | g.42911357G>T | CA500229449 | G6PC1 | c.1005G>T (p.Leu335=) c.*397G>T (n.*397G>T) | |
17 | g.42911358G>A | CA399657566 | G6PC1 | c.1006G>A (p.Ala336Thr) c.*398G>A (n.*398G>A) | |
17 | g.42911358G>C | CA399657568 | G6PC1 | c.1006G>C (p.Ala336Pro) c.*398G>C (n.*398G>C) | |
17 | g.42911358G>T | CA399657570 | G6PC1 | c.1006G>T (p.Ala336Ser) c.*398G>T (n.*398G>T) | |
17 | g.42911359C>A | CA399657572 | G6PC1 | c.1007C>A (p.Ala336Glu) c.*399C>A (n.*399C>A) | ClinVar dbSNP |
17 | g.42911359C= | CA2260697502 | G6PC1 | c.1007C= (p.Ala336=) c.*399C= (n.*399C=) | |
17 | g.42911359C>G | CA399657573 | G6PC1 | c.1007C>G (p.Ala336Gly) c.*399C>G (n.*399C>G) | |
17 | g.42911359C>T | CA399657576 | G6PC1 | c.1007C>T (p.Ala336Val) c.*399C>T (n.*399C>T) | gnomAD v4 |
17 | g.42911360A>C | CA500229451 | G6PC1 | c.1008A>C (p.Ala336=) c.*400A>C (n.*400A>C) | |
17 | g.42911360A>G | CA500229452 | G6PC1 | c.1008A>G (p.Ala336=) c.*400A>G (n.*400A>G) | ClinVar |
17 | g.42911360A>T | CA500229453 | G6PC1 | c.1008A>T (p.Ala336=) c.*400A>T (n.*400A>T) | |
17 | g.42911361T>A | CA399657579 | G6PC1 | c.1009T>A (p.Ser337Thr) c.*401T>A (n.*401T>A) | |
17 | g.42911361T>C | CA399657582 | G6PC1 | c.1009T>C (p.Ser337Pro) c.*401T>C (n.*401T>C) | |
17 | g.42911361T>G | CA399657583 | G6PC1 | c.1009T>G (p.Ser337Ala) c.*401T>G (n.*401T>G) | |
17 | g.42911362C>A | CA399657587 | G6PC1 | c.1010C>A (p.Ser337Tyr) c.*402C>A (n.*402C>A) | |
17 | g.42911362C>G | CA399657588 | G6PC1 | c.1010C>G (p.Ser337Cys) c.*402C>G (n.*402C>G) | |
17 | g.42911362C>T | CA399657586 | G6PC1 | c.1010C>T (p.Ser337Phe) c.*402C>T (n.*402C>T) | |
17 | g.42911363C>A | CA500229457 | G6PC1 | c.1011C>A (p.Ser337=) c.*403C>A (n.*403C>A) | gnomAD v4 |
17 | g.42911363C= | CA2260697503 | G6PC1 | c.1011C= (p.Ser337=) c.*403C= (n.*403C=) | |
17 | g.42911363C>G | CA500229458 | G6PC1 | c.1011C>G (p.Ser337=) c.*403C>G (n.*403C>G) | |
17 | g.42911363C>T | CA8587697 | G6PC1 | c.1011C>T (p.Ser337=) c.*403C>T (n.*403C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42911364G>A | CA8587698 | G6PC1 | c.1012G>A (p.Val338Ile) c.*404G>A (n.*404G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42911364G>C | CA399657591 | G6PC1 | c.1012G>C (p.Val338Leu) c.*404G>C (n.*404G>C) | |
17 | g.42911364G= | CA2260697504 | G6PC1 | c.1012G= (p.Val338=) c.*404G= (n.*404G=) | |
17 | g.42911364G>T | CA274168 | G6PC1 | c.1012G>T (p.Val338Phe) c.*404G>T (n.*404G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911365T>A | CA399657596 | G6PC1 | c.1013T>A (p.Val338Asp) c.*405T>A (n.*405T>A) | |
17 | g.42911365T>C | CA399657597 | G6PC1 | c.1013T>C (p.Val338Ala) c.*405T>C (n.*405T>C) | |
17 | g.42911365T>G | CA399657600 | G6PC1 | c.1013T>G (p.Val338Gly) c.*405T>G (n.*405T>G) | |
17 | g.42911366C>A | CA500229462 | G6PC1 | c.1014C>A (p.Val338=) c.*406C>A (n.*406C>A) | |
17 | g.42911366C>G | CA500229460 | G6PC1 | c.1014C>G (p.Val338=) c.*406C>G (n.*406C>G) | |
17 | g.42911366C>T | CA500229461 | G6PC1 | c.1014C>T (p.Val338=) c.*406C>T (n.*406C>T) | ClinVar dbSNP |
17 | g.42911367A>C | CA399657602 | G6PC1 | c.1015A>C (p.Ser339Arg) c.*407A>C (n.*407A>C) | |
17 | g.42911367A>G | CA399657603 | G6PC1 | c.1015A>G (p.Ser339Gly) c.*407A>G (n.*407A>G) | |
17 | g.42911367A>T | CA399657605 | G6PC1 | c.1015A>T (p.Ser339Cys) c.*407A>T (n.*407A>T) | |
17 | g.42911368G>A | CA399657607 | G6PC1 | c.1016G>A (p.Ser339Asn) c.*408G>A (n.*408G>A) | gnomAD v4 |
17 | g.42911368G>C | CA399657611 | G6PC1 | c.1016G>C (p.Ser339Thr) c.*408G>C (n.*408G>C) | dbSNP |
17 | g.42911368G= | CA2260697505 | G6PC1 | c.1016G= (p.Ser339=) c.*408G= (n.*408G=) | |
17 | g.42911368G>T | CA399657612 | G6PC1 | c.1016G>T (p.Ser339Ile) c.*408G>T (n.*408G>T) | |
17 | g.42911369T>A | CA399657616 | G6PC1 | c.1017T>A (p.Ser339Arg) c.*409T>A (n.*409T>A) | |
17 | g.42911369T>C | CA500229467 | G6PC1 | c.1017T>C (p.Ser339=) c.*409T>C (n.*409T>C) | dbSNP |
17 | g.42911369T>G | CA399657619 | G6PC1 | c.1017T>G (p.Ser339Arg) c.*409T>G (n.*409T>G) | |
17 | g.42911369T= | CA2260697509 | G6PC1 | c.1017T= (p.Ser339=) c.*409T= (n.*409T=) | |
17 | g.42911369_42911372delinsTGTC | CA2260697506 | G6PC1 | c.1017_1020delinsTGTC (p.Ser339=) c.*409_*412delinsTGTC (n.*409_*412delinsTGTC) | |
17 | g.42911369_42911378delinsTGTCATCCCC | CA2260697507 | G6PC1 | c.1017_1026delinsTGTCATCCCC (p.Ser339=) c.*409_*418delinsTGTCATCCCC (n.*409_*418delinsTGTCATCCCC) | |
17 | g.42911369_42911379delinsTGTCATCCCCT | CA2260697508 | G6PC1 | c.1017_1027delinsTGTCATCCCCT (p.Ser339=) c.*409_*419delinsTGTCATCCCCT (n.*409_*419delinsTGTCATCCCCT) | |
17 | g.42911370G>A | CA399657624 | G6PC1 | c.1018G>A (p.Val340Ile) c.*410G>A (n.*410G>A) | gnomAD v4 |
17 | g.42911370G>C | CA399657634 | G6PC1 | c.1018G>C (p.Val340Leu) c.*410G>C (n.*410G>C) | |
17 | g.42911370G>T | CA399657630 | G6PC1 | c.1018G>T (p.Val340Phe) c.*410G>T (n.*410G>T) | |
17 | g.42911370_42911372del | CA8587699 | G6PC1 | c.1018_1020del (p.Val340del) c.*410_*412del (n.*410_*412del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911370_42911378del | CA772150990 | G6PC1 | c.1018_1026del (p.Val340_Pro342del) c.*410_*418del (n.*410_*418del) | ClinVar dbSNP |
17 | g.42911370_42911379delinsA | CA658658619 | G6PC1 | c.1018_1027delinsA (p.Val340_Tyr343delinsAsn) c.*410_*419delinsA (n.*410_*419delinsA) | ClinVar dbSNP |