| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42909359_42909362dup | CA2580613141 | G6PC1 | c.503_506dup (p.Arg170ValfsTer?) c.447-1556_447-1553dup (n.447-1556_447-1553dup) c.426_429dup (p.Thr144CysfsTer?) | ClinVar dbSNP |
| 17 | g.42909359_42909362del | CA2638040824 | G6PC1 | c.503_506del (p.Leu168HisfsTer?) c.447-1556_447-1553del (n.447-1556_447-1553del) c.426_429del (p.Val143ArgfsTer?) | gnomAD v4 |
| 17 | g.42909356G>A | CA8587595 | G6PC1 | c.500G>A (p.Cys167Tyr) c.447-1559G>A (n.447-1559G>A) c.423G>A (p.Leu141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42909356G>C | CA399654887 | G6PC1 | c.500G>C (p.Cys167Ser) c.447-1559G>C (n.447-1559G>C) c.423G>C (p.Leu141=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42909356G= | CA2260696648 | G6PC1 | c.500G= (p.Cys167=) c.447-1559G= (n.447-1559G=) c.423G= (p.Leu141=) | |
| 17 | g.42909356G>T | CA399654885 | G6PC1 | c.500G>T (p.Cys167Phe) c.447-1559G>T (n.447-1559G>T) c.423G>T (p.Leu141=) | |
| 17 | g.42909357T>A | CA399654888 | G6PC1 | c.501T>A (p.Cys167Ter) c.447-1558T>A (n.447-1558T>A) c.424T>A (p.Ser142Thr) | gnomAD v4 |
| 17 | g.42909357T>C | CA399654890 | G6PC1 | c.501T>C (p.Cys167=) c.447-1558T>C (n.447-1558T>C) c.424T>C (p.Ser142Pro) | gnomAD v4 |
| 17 | g.42909357T>G | CA399654891 | G6PC1 | c.501T>G (p.Cys167Trp) c.447-1558T>G (n.447-1558T>G) c.424T>G (p.Ser142Ala) | |
| 17 | g.42909358C>A | CA399654893 | G6PC1 | c.502C>A (p.Leu168Met) c.447-1557C>A (n.447-1557C>A) c.425C>A (p.Ser142Tyr) | |
| 17 | g.42909358C= | CA2260696649 | G6PC1 | c.502C= (p.Leu168=) c.447-1557C= (n.447-1557C=) c.425C= (p.Ser142=) | |
| 17 | g.42909358C>G | CA399654895 | G6PC1 | c.502C>G (p.Leu168Val) c.447-1557C>G (n.447-1557C>G) c.425C>G (p.Ser142Cys) | gnomAD v4 |
| 17 | g.42909358C>T | CA399654896 | G6PC1 | c.502C>T (p.Leu168=) c.447-1557C>T (n.447-1557C>T) c.425C>T (p.Ser142Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42909359T>A | CA399654898 | G6PC1 | c.503T>A (p.Leu168Gln) c.447-1556T>A (n.447-1556T>A) c.426T>A (p.Ser142=) | |
| 17 | g.42909359T>C | CA399654899 | G6PC1 | c.503T>C (p.Leu168Pro) c.447-1556T>C (n.447-1556T>C) c.426T>C (p.Ser142=) | |
| 17 | g.42909359T>G | CA399654901 | G6PC1 | c.503T>G (p.Leu168Arg) c.447-1556T>G (n.447-1556T>G) c.426T>G (p.Ser142=) | |
| 17 | g.42909360G>A | CA399654902 | G6PC1 | c.504G>A (p.Leu168=) c.447-1555G>A (n.447-1555G>A) c.427G>A (p.Val143Ile) | |
| 17 | g.42909360G>C | CA399654904 | G6PC1 | c.504G>C (p.Leu168=) c.447-1555G>C (n.447-1555G>C) c.427G>C (p.Val143Leu) | |
| 17 | g.42909360G>T | CA399654906 | G6PC1 | c.504G>T (p.Leu168=) c.447-1555G>T (n.447-1555G>T) c.427G>T (p.Val143Phe) | |
| 17 | g.42909361T>A | CA399654910 | G6PC1 | c.505T>A (p.Ser169Thr) c.447-1554T>A (n.447-1554T>A) c.428T>A (p.Val143Asp) | |
| 17 | g.42909361T>C | CA399654908 | G6PC1 | c.505T>C (p.Ser169Pro) c.447-1554T>C (n.447-1554T>C) c.428T>C (p.Val143Ala) | |
| 17 | g.42909361T>G | CA399654907 | G6PC1 | c.505T>G (p.Ser169Ala) c.447-1554T>G (n.447-1554T>G) c.428T>G (p.Val143Gly) | |
| 17 | g.42909362C>A | CA399654912 | G6PC1 | c.506C>A (p.Ser169Ter) c.447-1553C>A (n.447-1553C>A) c.429C>A (p.Val143=) | |
| 17 | g.42909362C= | CA2260696650 | G6PC1 | c.506C= (p.Ser169=) c.447-1553C= (n.447-1553C=) c.429C= (p.Val143=) | |
| 17 | g.42909362C>G | CA399654915 | G6PC1 | c.506C>G (p.Ser169Ter) c.447-1553C>G (n.447-1553C>G) c.429C>G (p.Val143=) | ClinVar dbSNP |
| 17 | g.42909362C>T | CA399654914 | G6PC1 | c.506C>T (p.Ser169Leu) c.447-1553C>T (n.447-1553C>T) c.429C>T (p.Val143=) | |
| 17 | g.42909363A= | CA2260696651 | G6PC1 | c.507A= (p.Ser169=) c.447-1552A= (n.447-1552A=) c.430A= (p.Thr144=) | |
| 17 | g.42909363A>C | CA399654916 | G6PC1 | c.507A>C (p.Ser169=) c.447-1552A>C (n.447-1552A>C) c.430A>C (p.Thr144Pro) | |
| 17 | g.42909363A>G | CA399654917 | G6PC1 | c.507A>G (p.Ser169=) c.447-1552A>G (n.447-1552A>G) c.430A>G (p.Thr144Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42909363A>T | CA399654918 | G6PC1 | c.507A>T (p.Ser169=) c.447-1552A>T (n.447-1552A>T) c.430A>T (p.Thr144Ser) | |
| 17 | g.42909364C>A | CA399654919 | G6PC1 | c.508C>A (p.Arg170=) c.447-1551C>A (n.447-1551C>A) c.431C>A (p.Thr144Lys) | |
| 17 | g.42909364C= | CA2260696652 | G6PC1 | c.508C= (p.Arg170=) c.447-1551C= (n.447-1551C=) c.431C= (p.Thr144=) | |
| 17 | g.42909364C>G | CA399654920 | G6PC1 | c.508C>G (p.Arg170Gly) c.447-1551C>G (n.447-1551C>G) c.431C>G (p.Thr144Arg) | |
| 17 | g.42909364C>T | CA8587596 | G6PC1 | c.508C>T (p.Arg170Ter) c.447-1551C>T (n.447-1551C>T) c.431C>T (p.Thr144Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42909365G>A | CA8587597 | G6PC1 | c.509G>A (p.Arg170Gln) c.447-1550G>A (n.447-1550G>A) c.432G>A (p.Thr144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42909365G>C | CA399654921 | G6PC1 | c.509G>C (p.Arg170Pro) c.447-1550G>C (n.447-1550G>C) c.432G>C (p.Thr144=) | |
| 17 | g.42909365G= | CA2260696653 | G6PC1 | c.509G= (p.Arg170=) c.447-1550G= (n.447-1550G=) c.432G= (p.Thr144=) | |
| 17 | g.42909365G>T | CA399654922 | G6PC1 | c.509G>T (p.Arg170Leu) c.447-1550G>T (n.447-1550G>T) c.432G>T (p.Thr144=) | |
| 17 | g.42909365_42909366delinsGA | CA2260696654 | G6PC1 | c.509_510delinsGA (p.Arg170=) c.447-1550_447-1549delinsGA (n.447-1550_447-1549delinsGA) c.432_433delinsGA (p.Thr144=) | |
| 17 | g.42909366A>C | CA399654923 | G6PC1 | c.510A>C (p.Arg170=) c.447-1549A>C (n.447-1549A>C) c.433A>C (p.Asn145His) | |
| 17 | g.42909366A>G | CA399654924 | G6PC1 | c.510A>G (p.Arg170=) c.447-1549A>G (n.447-1549A>G) c.433A>G (p.Asn145Asp) | |
| 17 | g.42909366A>T | CA399654925 | G6PC1 | c.510A>T (p.Arg170=) c.447-1549A>T (n.447-1549A>T) c.433A>T (p.Asn145Tyr) | |
| 17 | g.42909367del | CA915950017 | G6PC1 | c.511del (p.Ile171SerfsTer?) c.447-1548del (n.447-1548del) c.434del (p.Asn145IlefsTer?) | ClinVar dbSNP |
| 17 | g.42909367A>C | CA399654928 | G6PC1 | c.511A>C (p.Ile171Leu) c.447-1548A>C (n.447-1548A>C) c.434A>C (p.Asn145Thr) | |
| 17 | g.42909367A>G | CA399654926 | G6PC1 | c.511A>G (p.Ile171Val) c.447-1548A>G (n.447-1548A>G) c.434A>G (p.Asn145Ser) | |
| 17 | g.42909367A>T | CA399654927 | G6PC1 | c.511A>T (p.Ile171Phe) c.447-1548A>T (n.447-1548A>T) c.434A>T (p.Asn145Ile) | |
| 17 | g.42909368T>A | CA399654929 | G6PC1 | c.512T>A (p.Ile171Asn) c.447-1547T>A (n.447-1547T>A) c.435T>A (p.Asn145Lys) | gnomAD v4 |
| 17 | g.42909368T>C | CA399654930 | G6PC1 | c.512T>C (p.Ile171Thr) c.447-1547T>C (n.447-1547T>C) c.435T>C (p.Asn145=) | |
| 17 | g.42909368T>G | CA399654931 | G6PC1 | c.512T>G (p.Ile171Ser) c.447-1547T>G (n.447-1547T>G) c.435T>G (p.Asn145Lys) | |
| 17 | g.42909369C>A | CA399654932 | G6PC1 | c.513C>A (p.Ile171=) c.447-1546C>A (n.447-1546C>A) c.436C>A (p.Leu146Ile) |