Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42909347T>A | CA399654844 | G6PC1 | c.491T>A (p.Leu164Gln) c.447-1568T>A (n.447-1568T>A) c.414T>A (p.Ala138=) | |
17 | g.42909347T>C | CA399654845 | G6PC1 | c.491T>C (p.Leu164Pro) c.447-1568T>C (n.447-1568T>C) c.414T>C (p.Ala138=) | |
17 | g.42909347T>G | CA399654847 | G6PC1 | c.491T>G (p.Leu164Arg) c.447-1568T>G (n.447-1568T>G) c.414T>G (p.Ala138=) | |
17 | g.42909348G>A | CA399654849 | G6PC1 | c.492G>A (p.Leu164=) c.447-1567G>A (n.447-1567G>A) c.415G>A (p.Glu139Lys) | |
17 | g.42909348G>C | CA399654850 | G6PC1 | c.492G>C (p.Leu164=) c.447-1567G>C (n.447-1567G>C) c.415G>C (p.Glu139Gln) | |
17 | g.42909348G>T | CA399654851 | G6PC1 | c.492G>T (p.Leu164=) c.447-1567G>T (n.447-1567G>T) c.415G>T (p.Glu139Ter) | |
17 | g.42909349A>C | CA399654853 | G6PC1 | c.493A>C (p.Asn165His) c.447-1566A>C (n.447-1566A>C) c.416A>C (p.Glu139Ala) | |
17 | g.42909349A>G | CA399654855 | G6PC1 | c.493A>G (p.Asn165Asp) c.447-1566A>G (n.447-1566A>G) c.416A>G (p.Glu139Gly) | |
17 | g.42909349A>T | CA399654856 | G6PC1 | c.493A>T (p.Asn165Tyr) c.447-1566A>T (n.447-1566A>T) c.416A>T (p.Glu139Val) | |
17 | g.42909350A>C | CA399654861 | G6PC1 | c.494A>C (p.Asn165Thr) c.447-1565A>C (n.447-1565A>C) c.417A>C (p.Glu139Asp) | gnomAD v4 |
17 | g.42909350A>G | CA399654859 | G6PC1 | c.494A>G (p.Asn165Ser) c.447-1565A>G (n.447-1565A>G) c.417A>G (p.Glu139=) | |
17 | g.42909350A>T | CA399654857 | G6PC1 | c.494A>T (p.Asn165Ile) c.447-1565A>T (n.447-1565A>T) c.417A>T (p.Glu139Asp) | |
17 | g.42909351T>A | CA399654863 | G6PC1 | c.495T>A (p.Asn165Lys) c.447-1564T>A (n.447-1564T>A) c.418T>A (p.Cys140Ser) | |
17 | g.42909351T>C | CA399654864 | G6PC1 | c.495T>C (p.Asn165=) c.447-1564T>C (n.447-1564T>C) c.418T>C (p.Cys140Arg) | |
17 | g.42909351T>G | CA399654865 | G6PC1 | c.495T>G (p.Asn165Lys) c.447-1564T>G (n.447-1564T>G) c.418T>G (p.Cys140Gly) | gnomAD v4 |
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.42909352G>A | CA399654867 | G6PC1 | c.496G>A (p.Val166Ile) c.447-1563G>A (n.447-1563G>A) c.419G>A (p.Cys140Tyr) | gnomAD v4 |
17 | g.42909352G>C | CA399654869 | G6PC1 | c.496G>C (p.Val166Leu) c.447-1563G>C (n.447-1563G>C) c.419G>C (p.Cys140Ser) | |
17 | g.42909352G= | CA2260696645 | G6PC1 | c.496G= (p.Val166=) c.447-1563G= (n.447-1563G=) c.419G= (p.Cys140=) | |
17 | g.42909352G>T | CA399654871 | G6PC1 | c.496G>T (p.Val166Phe) c.447-1563G>T (n.447-1563G>T) c.419G>T (p.Cys140Phe) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42909353T>A | CA399654875 | G6PC1 | c.497T>A (p.Val166Asp) c.447-1562T>A (n.447-1562T>A) c.420T>A (p.Cys140Ter) | |
17 | g.42909353T>C | CA399654872 | G6PC1 | c.497T>C (p.Val166Ala) c.447-1562T>C (n.447-1562T>C) c.420T>C (p.Cys140=) | ClinVar dbSNP |
17 | g.42909353T>G | CA256192 | G6PC1 | c.497T>G (p.Val166Gly) c.447-1562T>G (n.447-1562T>G) c.420T>G (p.Cys140Trp) | ClinVar dbSNP |
17 | g.42909353T= | CA2260696646 | G6PC1 | c.497T= (p.Val166=) c.447-1562T= (n.447-1562T=) c.420T= (p.Cys140=) | |
17 | g.42909354C>A | CA399654876 | G6PC1 | c.498C>A (p.Val166=) c.447-1561C>A (n.447-1561C>A) c.421C>A (p.Leu141Met) | |
17 | g.42909354C= | CA2260696647 | G6PC1 | c.498C= (p.Val166=) c.447-1561C= (n.447-1561C=) c.421C= (p.Leu141=) | |
17 | g.42909354C>G | CA399654877 | G6PC1 | c.498C>G (p.Val166=) c.447-1561C>G (n.447-1561C>G) c.421C>G (p.Leu141Val) | |
17 | g.42909354C>T | CA500103918 | G6PC1 | c.498C>T (p.Val166=) c.447-1561C>T (n.447-1561C>T) c.421C>T (p.Leu141=) | dbSNP |
17 | g.42909355T>A | CA399654880 | G6PC1 | c.499T>A (p.Cys167Ser) c.447-1560T>A (n.447-1560T>A) c.422T>A (p.Leu141Gln) | |
17 | g.42909355T>C | CA399654881 | G6PC1 | c.499T>C (p.Cys167Arg) c.447-1560T>C (n.447-1560T>C) c.422T>C (p.Leu141Pro) | |
17 | g.42909355T>G | CA399654883 | G6PC1 | c.499T>G (p.Cys167Gly) c.447-1560T>G (n.447-1560T>G) c.422T>G (p.Leu141Arg) | |
17 | g.42909355dup | CA16041844 | G6PC1 | c.499dup (p.Cys167LeufsTer?) c.447-1560dup (n.447-1560dup) c.422dup (p.Ser142ValfsTer?) | ClinVar dbSNP gnomAD v4 COSMIC |
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) | |
17 | g.42909369C= | CA2260696655 | G6PC1 | c.513C= (p.Ile171=) c.447-1546C= (n.447-1546C=) c.436C= (p.Leu146=) | |
17 | g.42909369C>G | CA399654933 | G6PC1 | c.513C>G (p.Ile171Met) c.447-1546C>G (n.447-1546C>G) c.436C>G (p.Leu146Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42909369C>T | CA500103920 | G6PC1 | c.513C>T (p.Ile171=) c.447-1546C>T (n.447-1546C>T) c.436C>T (p.Leu146=) | |
17 | g.42909370T>A | CA399654934 | G6PC1 | c.514T>A (p.Tyr172Asn) c.447-1545T>A (n.447-1545T>A) c.437T>A (p.Leu146Gln) | |
17 | g.42909370T>C | CA399654935 | G6PC1 | c.514T>C (p.Tyr172His) c.447-1545T>C (n.447-1545T>C) c.437T>C (p.Leu146Pro) | |
17 | g.42909370T>G | CA399654936 | G6PC1 | c.514T>G (p.Tyr172Asp) c.447-1545T>G (n.447-1545T>G) c.437T>G (p.Leu146Arg) | |
17 | g.42909371A>C | CA399654937 | G6PC1 | c.515A>C (p.Tyr172Ser) c.447-1544A>C (n.447-1544A>C) c.438A>C (p.Leu146=) | |
17 | g.42909371A>G | CA399654938 | G6PC1 | c.515A>G (p.Tyr172Cys) c.447-1544A>G (n.447-1544A>G) c.438A>G (p.Leu146=) | |
17 | g.42909371A>T | CA399654939 | G6PC1 | c.515A>T (p.Tyr172Phe) c.447-1544A>T (n.447-1544A>T) c.438A>T (p.Leu146=) | |
17 | g.42909372C>A | CA399654942 | G6PC1 | c.516C>A (p.Tyr172Ter) c.447-1543C>A (n.447-1543C>A) c.439C>A (p.Pro147Thr) | ClinVar dbSNP |
17 | g.42909372C= | CA2260696656 | G6PC1 | c.516C= (p.Tyr172=) c.447-1543C= (n.447-1543C=) c.439C= (p.Pro147=) | |
17 | g.42909372C>G | CA399654941 | G6PC1 | c.516C>G (p.Tyr172Ter) c.447-1543C>G (n.447-1543C>G) c.439C>G (p.Pro147Ala) | |
17 | g.42909372C>T | CA399654940 | G6PC1 | c.516C>T (p.Tyr172=) c.447-1543C>T (n.447-1543C>T) c.439C>T (p.Pro147Ser) | |
17 | g.42909373C>A | CA399654945 | G6PC1 | c.517C>A (p.Leu173Ile) c.447-1542C>A (n.447-1542C>A) c.440C>A (p.Pro147His) | |
17 | g.42909373C= | CA2260696657 | G6PC1 | c.517C= (p.Leu173=) c.447-1542C= (n.447-1542C=) c.440C= (p.Pro147=) | |
17 | g.42909373C>G | CA399654943 | G6PC1 | c.517C>G (p.Leu173Val) c.447-1542C>G (n.447-1542C>G) c.440C>G (p.Pro147Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42909373C>T | CA399654944 | G6PC1 | c.517C>T (p.Leu173Phe) c.447-1542C>T (n.447-1542C>T) c.440C>T (p.Pro147Leu) | |
17 | g.42909374T>A | CA399654946 | G6PC1 | c.518T>A (p.Leu173His) c.447-1541T>A (n.447-1541T>A) c.441T>A (p.Pro147=) | |
17 | g.42909374T>C | CA8587598 | G6PC1 | c.518T>C (p.Leu173Pro) c.447-1541T>C (n.447-1541T>C) c.441T>C (p.Pro147=) | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.42909374T>G | CA399654947 | G6PC1 | c.518T>G (p.Leu173Arg) c.447-1541T>G (n.447-1541T>G) c.441T>G (p.Pro147=) | |
17 | g.42909374T= | CA2260696658 | G6PC1 | c.518T= (p.Leu173=) c.447-1541T= (n.447-1541T=) c.441T= (p.Pro147=) | |
17 | g.42909375T>A | CA399654950 | G6PC1 | c.519T>A (p.Leu173=) c.447-1540T>A (n.447-1540T>A) c.442T>A (p.Cys148Ser) | |
17 | g.42909375T>C | CA399654949 | G6PC1 | c.519T>C (p.Leu173=) c.447-1540T>C (n.447-1540T>C) c.442T>C (p.Cys148Arg) | |
17 | g.42909375T>G | CA399654948 | G6PC1 | c.519T>G (p.Leu173=) c.447-1540T>G (n.447-1540T>G) c.442T>G (p.Cys148Gly) | |
17 | g.42909376G>A | CA399654951 | G6PC1 | c.520G>A (p.Ala174Thr) c.447-1539G>A (n.447-1539G>A) c.443G>A (p.Cys148Tyr) | |
17 | g.42909376G>C | CA399654952 | G6PC1 | c.520G>C (p.Ala174Pro) c.447-1539G>C (n.447-1539G>C) c.443G>C (p.Cys148Ser) | |
17 | g.42909376G>T | CA399654953 | G6PC1 | c.520G>T (p.Ala174Ser) c.447-1539G>T (n.447-1539G>T) c.443G>T (p.Cys148Phe) | |
17 | g.42909377C>A | CA399654954 | G6PC1 | c.521C>A (p.Ala174Asp) c.447-1538C>A (n.447-1538C>A) c.444C>A (p.Cys148Ter) | |
17 | g.42909377C>G | CA399654955 | G6PC1 | c.521C>G (p.Ala174Gly) c.447-1538C>G (n.447-1538C>G) c.444C>G (p.Cys148Trp) | |
17 | g.42909377C>T | CA399654956 | G6PC1 | c.521C>T (p.Ala174Val) c.447-1538C>T (n.447-1538C>T) c.444C>T (p.Cys148=) | gnomAD v4 |
17 | g.42909378T>A | CA399654957 | G6PC1 | c.522T>A (p.Ala174=) c.447-1537T>A (n.447-1537T>A) c.445T>A (p.Cys149Ser) | |
17 | g.42909378T>C | CA399654959 | G6PC1 | c.522T>C (p.Ala174=) c.447-1537T>C (n.447-1537T>C) c.445T>C (p.Cys149Arg) | |
17 | g.42909378T>G | CA399654958 | G6PC1 | c.522T>G (p.Ala174=) c.447-1537T>G (n.447-1537T>G) c.445T>G (p.Cys149Gly) | gnomAD v4 |
17 | g.42909379G>A | CA399654960 | G6PC1 | c.523G>A (p.Ala175Thr) c.447-1536G>A (n.447-1536G>A) c.446G>A (p.Cys149Tyr) | |
17 | g.42909379G>C | CA399654961 | G6PC1 | c.523G>C (p.Ala175Pro) c.447-1536G>C (n.447-1536G>C) c.446G>C (p.Cys149Ser) | |
17 | g.42909379G>T | CA399654962 | G6PC1 | c.523G>T (p.Ala175Ser) c.447-1536G>T (n.447-1536G>T) c.446G>T (p.Cys149Phe) | |
17 | g.42909380C>A | CA399654963 | G6PC1 | c.524C>A (p.Ala175Asp) c.447-1535C>A (n.447-1535C>A) c.447C>A (p.Cys149Ter) | |
17 | g.42909380C>G | CA399654964 | G6PC1 | c.524C>G (p.Ala175Gly) c.447-1535C>G (n.447-1535C>G) c.447C>G (p.Cys149Trp) | |
17 | g.42909380C>T | CA399654965 | G6PC1 | c.524C>T (p.Ala175Val) c.447-1535C>T (n.447-1535C>T) c.447C>T (p.Cys149=) | |
17 | g.42909381T>A | CA399654966 | G6PC1 | c.525T>A (p.Ala175=) c.447-1534T>A (n.447-1534T>A) c.448T>A (p.Ser150Thr) | |
17 | g.42909381T>C | CA399654967 | G6PC1 | c.525T>C (p.Ala175=) c.447-1534T>C (n.447-1534T>C) c.448T>C (p.Ser150Pro) | dbSNP |
17 | g.42909381T>G | CA399654968 | G6PC1 | c.525T>G (p.Ala175=) c.447-1534T>G (n.447-1534T>G) c.448T>G (p.Ser150Ala) | |
17 | g.42909382C>A | CA399654969 | G6PC1 | c.526C>A (p.His176Asn) c.447-1533C>A (n.447-1533C>A) c.449C>A (p.Ser150Ter) | |
17 | g.42909382C= | CA2260696659 | G6PC1 | c.526C= (p.His176=) c.447-1533C= (n.447-1533C=) c.449C= (p.Ser150=) | |
17 | g.42909382C>G | CA399654970 | G6PC1 | c.526C>G (p.His176Asp) c.447-1533C>G (n.447-1533C>G) c.449C>G (p.Ser150Ter) | |
17 | g.42909382C>T | CA399654971 | G6PC1 | c.526C>T (p.His176Tyr) c.447-1533C>T (n.447-1533C>T) c.449C>T (p.Ser150Leu) | ClinVar dbSNP |
17 | g.42909383A>C | CA399654974 | G6PC1 | c.527A>C (p.His176Pro) c.447-1532A>C (n.447-1532A>C) c.450A>C (p.Ser150=) | |
17 | g.42909383A>G | CA399654973 | G6PC1 | c.527A>G (p.His176Arg) c.447-1532A>G (n.447-1532A>G) c.450A>G (p.Ser150=) | |
17 | g.42909383A>T | CA399654972 | G6PC1 | c.527A>T (p.His176Leu) c.447-1532A>T (n.447-1532A>T) c.450A>T (p.Ser150=) | dbSNP |
17 | g.42909384T>A | CA399654975 | G6PC1 | c.528T>A (p.His176Gln) c.447-1531T>A (n.447-1531T>A) c.451T>A (p.Phe151Ile) | |
17 | g.42909384T>C | CA399654976 | G6PC1 | c.528T>C (p.His176=) c.447-1531T>C (n.447-1531T>C) c.451T>C (p.Phe151Leu) | gnomAD v4 |
17 | g.42909384T>G | CA399654977 | G6PC1 | c.528T>G (p.His176Gln) c.447-1531T>G (n.447-1531T>G) c.451T>G (p.Phe151Val) | |
17 | g.42909385T>A | CA399654978 | G6PC1 | c.529T>A (p.Phe177Ile) c.447-1530T>A (n.447-1530T>A) c.452T>A (p.Phe151Tyr) | dbSNP |
17 | g.42909385T>C | CA399654979 | G6PC1 | c.529T>C (p.Phe177Leu) c.447-1530T>C (n.447-1530T>C) c.452T>C (p.Phe151Ser) | |
17 | g.42909385T>G | CA399654980 | G6PC1 | c.529T>G (p.Phe177Val) c.447-1530T>G (n.447-1530T>G) c.452T>G (p.Phe151Cys) | |
17 | g.42909386T>A | CA399654983 | G6PC1 | c.530T>A (p.Phe177Tyr) c.447-1529T>A (n.447-1529T>A) c.453T>A (p.Phe151Leu) | dbSNP |
17 | g.42909386T>C | CA399654982 | G6PC1 | c.530T>C (p.Phe177Ser) c.447-1529T>C (n.447-1529T>C) c.453T>C (p.Phe151=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42909386T>G | CA399654981 | G6PC1 | c.530T>G (p.Phe177Cys) c.447-1529T>G (n.447-1529T>G) c.453T>G (p.Phe151Leu) | |
17 | g.42909386T= | CA2260696660 | G6PC1 | c.530T= (p.Phe177=) c.447-1529T= (n.447-1529T=) c.453T= (p.Phe151=) | |
17 | g.42909387T>A | CA399654984 | G6PC1 | c.531T>A (p.Phe177Leu) c.447-1528T>A (n.447-1528T>A) c.454T>A (p.Ser152Thr) | dbSNP |
17 | g.42909387T>C | CA399654985 | G6PC1 | c.531T>C (p.Phe177=) c.447-1528T>C (n.447-1528T>C) c.454T>C (p.Ser152Pro) | |
17 | g.42909387T>G | CA399654986 | G6PC1 | c.531T>G (p.Phe177Leu) c.447-1528T>G (n.447-1528T>G) c.454T>G (p.Ser152Ala) | |
17 | g.42909388C>A | CA399654987 | G6PC1 | c.532C>A (p.Pro178Thr) c.447-1527C>A (n.447-1527C>A) c.455C>A (p.Ser152Tyr) | |
17 | g.42909388C= | CA2260696661 | G6PC1 | c.532C= (p.Pro178=) c.447-1527C= (n.447-1527C=) c.455C= (p.Ser152=) | |
17 | g.42909388C>G | CA8587599 | G6PC1 | c.532C>G (p.Pro178Ala) c.447-1527C>G (n.447-1527C>G) c.455C>G (p.Ser152Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42909388C>T | CA399654988 | G6PC1 | c.532C>T (p.Pro178Ser) c.447-1527C>T (n.447-1527C>T) c.455C>T (p.Ser152Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42909389C>A | CA399654989 | G6PC1 | c.533C>A (p.Pro178His) c.447-1526C>A (n.447-1526C>A) c.456C>A (p.Ser152=) | |
17 | g.42909389C= | CA2260696662 | G6PC1 | c.533C= (p.Pro178=) c.447-1526C= (n.447-1526C=) c.456C= (p.Ser152=) | |
17 | g.42909389C>G | CA399654990 | G6PC1 | c.533C>G (p.Pro178Arg) c.447-1526C>G (n.447-1526C>G) c.456C>G (p.Ser152=) | |
17 | g.42909389C>T | CA8587600 | G6PC1 | c.533C>T (p.Pro178Leu) c.447-1526C>T (n.447-1526C>T) c.456C>T (p.Ser152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42909390T>A | CA8587602 | G6PC1 | c.534T>A (p.Pro178=) c.447-1525T>A (n.447-1525T>A) c.457T>A (p.Ser153Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42909390T>C | CA8587601 | G6PC1 | c.534T>C (p.Pro178=) c.447-1525T>C (n.447-1525T>C) c.457T>C (p.Ser153Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42909390T>G | CA399654991 | G6PC1 | c.534T>G (p.Pro178=) c.447-1525T>G (n.447-1525T>G) c.457T>G (p.Ser153Ala) | |
17 | g.42909390T= | CA2260696663 | G6PC1 | c.534T= (p.Pro178=) c.447-1525T= (n.447-1525T=) c.457T= (p.Ser153=) | |
17 | g.42909391C>A | CA399654992 | G6PC1 | c.535C>A (p.His179Asn) c.447-1524C>A (n.447-1524C>A) c.458C>A (p.Ser153Ter) | |
17 | g.42909391C>G | CA399654993 | G6PC1 | c.535C>G (p.His179Asp) c.447-1524C>G (n.447-1524C>G) c.458C>G (p.Ser153Ter) | dbSNP |
17 | g.42909391C>T | CA399654994 | G6PC1 | c.535C>T (p.His179Tyr) c.447-1524C>T (n.447-1524C>T) c.458C>T (p.Ser153Leu) | gnomAD v4 |
17 | g.42909392A>C | CA399654995 | G6PC1 | c.536A>C (p.His179Pro) c.447-1523A>C (n.447-1523A>C) c.459A>C (p.Ser153=) | dbSNP |
17 | g.42909392A>G | CA399654996 | G6PC1 | c.536A>G (p.His179Arg) c.447-1523A>G (n.447-1523A>G) c.459A>G (p.Ser153=) | |
17 | g.42909392A>T | CA399654997 | G6PC1 | c.536A>T (p.His179Leu) c.447-1523A>T (n.447-1523A>T) c.459A>T (p.Ser153=) | |
17 | g.42909393del | CA2695226078 | G6PC1 | c.537del (p.Gln180LysfsTer?) c.447-1522del (n.447-1522del) c.460del (p.Ser154GlnfsTer?) | |
17 | g.42909393T>A | CA399654998 | G6PC1 | c.537T>A (p.His179Gln) c.447-1522T>A (n.447-1522T>A) c.460T>A (p.Ser154Thr) | gnomAD v4 |
17 | g.42909393T>C | CA399654999 | G6PC1 | c.537T>C (p.His179=) c.447-1522T>C (n.447-1522T>C) c.460T>C (p.Ser154Pro) | |
17 | g.42909393T>G | CA399655000 | G6PC1 | c.537T>G (p.His179Gln) c.447-1522T>G (n.447-1522T>G) c.460T>G (p.Ser154Ala) | |
17 | g.42909394C>A | CA399655001 | G6PC1 | c.538C>A (p.Gln180Lys) c.447-1521C>A (n.447-1521C>A) c.461C>A (p.Ser154Ter) | |
17 | g.42909394C= | CA2260696664 | G6PC1 | c.538C= (p.Gln180=) c.447-1521C= (n.447-1521C=) c.461C= (p.Ser154=) | |
17 | g.42909394C>G | CA399655003 | G6PC1 | c.538C>G (p.Gln180Glu) c.447-1521C>G (n.447-1521C>G) c.461C>G (p.Ser154Ter) | |
17 | g.42909394C>T | CA399655002 | G6PC1 | c.538C>T (p.Gln180Ter) c.447-1521C>T (n.447-1521C>T) c.461C>T (p.Ser154Leu) | ClinVar dbSNP |
17 | g.42909395A= | CA2260696665 | G6PC1 | c.539A= (p.Gln180=) c.447-1520A= (n.447-1520A=) c.462A= (p.Ser154=) | |
17 | g.42909395A>C | CA399655004 | G6PC1 | c.539A>C (p.Gln180Pro) c.447-1520A>C (n.447-1520A>C) c.462A>C (p.Ser154=) | |
17 | g.42909395A>G | CA290788967 | G6PC1 | c.539A>G (p.Gln180Arg) c.447-1520A>G (n.447-1520A>G) c.462A>G (p.Ser154=) | dbSNP |
17 | g.42909395A>T | CA399655005 | G6PC1 | c.539A>T (p.Gln180Leu) c.447-1520A>T (n.447-1520A>T) c.462A>T (p.Ser154=) | |
17 | g.42909396A= | CA2260696666 | G6PC1 | c.540A= (p.Gln180=) c.447-1519A= (n.447-1519A=) c.463A= (p.Ser155=) | |
17 | g.42909396A>C | CA399655006 | G6PC1 | c.540A>C (p.Gln180His) c.447-1519A>C (n.447-1519A>C) c.463A>C (p.Ser155Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42909396A>G | CA399655007 | G6PC1 | c.540A>G (p.Gln180=) c.447-1519A>G (n.447-1519A>G) c.463A>G (p.Ser155Gly) | |
17 | g.42909396A>T | CA399655008 | G6PC1 | c.540A>T (p.Gln180His) c.447-1519A>T (n.447-1519A>T) c.463A>T (p.Ser155Cys) | |
17 | g.42909397G>A | CA399655009 | G6PC1 | c.541G>A (p.Val181Ile) c.447-1518G>A (n.447-1518G>A) c.464G>A (p.Ser155Asn) | |
17 | g.42909397G>C | CA399655010 | G6PC1 | c.541G>C (p.Val181Leu) c.447-1518G>C (n.447-1518G>C) c.464G>C (p.Ser155Thr) | |
17 | g.42909397G>T | CA399655011 | G6PC1 | c.541G>T (p.Val181Phe) c.447-1518G>T (n.447-1518G>T) c.464G>T (p.Ser155Ile) | |
17 | g.42909398T>A | CA399655012 | G6PC1 | c.542T>A (p.Val181Asp) c.447-1517T>A (n.447-1517T>A) c.465T>A (p.Ser155Arg) | |
17 | g.42909398T>C | CA399655013 | G6PC1 | c.542T>C (p.Val181Ala) c.447-1517T>C (n.447-1517T>C) c.465T>C (p.Ser155=) | |
17 | g.42909398T>G | CA399655014 | G6PC1 | c.542T>G (p.Val181Gly) c.447-1517T>G (n.447-1517T>G) c.465T>G (p.Ser155Arg) | |
17 | g.42909399T>A | CA399655017 | G6PC1 | c.543T>A (p.Val181=) c.447-1516T>A (n.447-1516T>A) c.466T>A (p.Cys156Ser) | |
17 | g.42909399T>C | CA399655016 | G6PC1 | c.543T>C (p.Val181=) c.447-1516T>C (n.447-1516T>C) c.466T>C (p.Cys156Arg) | |
17 | g.42909399T>G | CA399655015 | G6PC1 | c.543T>G (p.Val181=) c.447-1516T>G (n.447-1516T>G) c.466T>G (p.Cys156Gly) | |
17 | g.42909400G>A | CA399655018 | G6PC1 | c.544G>A (p.Val182Ile) c.447-1515G>A (n.447-1515G>A) c.467G>A (p.Cys156Tyr) | |
17 | g.42909400G>C | CA399655019 | G6PC1 | c.544G>C (p.Val182Leu) c.447-1515G>C (n.447-1515G>C) c.467G>C (p.Cys156Ser) | |
17 | g.42909400G>T | CA399655020 | G6PC1 | c.544G>T (p.Val182Phe) c.447-1515G>T (n.447-1515G>T) c.467G>T (p.Cys156Phe) | |
17 | g.42909401T>A | CA399655021 | G6PC1 | c.545T>A (p.Val182Asp) c.447-1514T>A (n.447-1514T>A) c.468T>A (p.Cys156Ter) | |
17 | g.42909401T>C | CA399655022 | G6PC1 | c.545T>C (p.Val182Ala) c.447-1514T>C (n.447-1514T>C) c.468T>C (p.Cys156=) | |
17 | g.42909401T>G | CA399655023 | G6PC1 | c.545T>G (p.Val182Gly) c.447-1514T>G (n.447-1514T>G) c.468T>G (p.Cys156Trp) | |
17 | g.42909402T>A | CA399655024 | G6PC1 | c.546T>A (p.Val182=) c.447-1513T>A (n.447-1513T>A) c.469T>A (p.Cys157Ser) | |
17 | g.42909402T>C | CA399655025 | G6PC1 | c.546T>C (p.Val182=) c.447-1513T>C (n.447-1513T>C) c.469T>C (p.Cys157Arg) | gnomAD v4 |
17 | g.42909402T>G | CA399655026 | G6PC1 | c.546T>G (p.Val182=) c.447-1513T>G (n.447-1513T>G) c.469T>G (p.Cys157Gly) | |
17 | g.42909403G>A | CA8587603 | G6PC1 | c.547G>A (p.Ala183Thr) c.447-1512G>A (n.447-1512G>A) c.470G>A (p.Cys157Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42909403G>C | CA399655027 | G6PC1 | c.547G>C (p.Ala183Pro) c.447-1512G>C (n.447-1512G>C) c.470G>C (p.Cys157Ser) | |
17 | g.42909403G= | CA2260696667 | G6PC1 | c.547G= (p.Ala183=) c.447-1512G= (n.447-1512G=) c.470G= (p.Cys157=) | |
17 | g.42909403G>T | CA399655028 | G6PC1 | c.547G>T (p.Ala183Ser) c.447-1512G>T (n.447-1512G>T) c.470G>T (p.Cys157Phe) | |
17 | g.42909404del | CA2638040825 | G6PC1 | c.548del (p.Ala183ValfsTer?) c.447-1511del (n.447-1511del) c.471del (p.Trp158GlyfsTer?) | gnomAD v4 |
17 | g.42909404C>A | CA399655029 | G6PC1 | c.548C>A (p.Ala183Asp) c.447-1511C>A (n.447-1511C>A) c.471C>A (p.Cys157Ter) | |
17 | g.42909404C>G | CA399655031 | G6PC1 | c.548C>G (p.Ala183Gly) c.447-1511C>G (n.447-1511C>G) c.471C>G (p.Cys157Trp) | gnomAD v4 |
17 | g.42909404C>T | CA399655030 | G6PC1 | c.548C>T (p.Ala183Val) c.447-1511C>T (n.447-1511C>T) c.471C>T (p.Cys157=) | |
17 | g.42909405T>A | CA399655032 | G6PC1 | c.549T>A (p.Ala183=) c.447-1510T>A (n.447-1510T>A) c.472T>A (p.Trp158Arg) | |
17 | g.42909405T>C | CA8587604 | G6PC1 | c.549T>C (p.Ala183=) c.447-1510T>C (n.447-1510T>C) c.472T>C (p.Trp158Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42909405T>G | CA8587605 | G6PC1 | c.549T>G (p.Ala183=) c.447-1510T>G (n.447-1510T>G) c.472T>G (p.Trp158Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42909405T= | CA2260696668 | G6PC1 | c.549T= (p.Ala183=) c.447-1510T= (n.447-1510T=) c.472T= (p.Trp158=) | |
17 | g.42909405dup | CA2573154244 | G6PC1 | c.549dup (p.Gly184TrpfsTer20) c.447-1510dup (n.447-1510dup) c.472dup (p.Trp158LeufsTer?) | ClinVar dbSNP |
17 | g.42909406G>A | CA399655033 | G6PC1 | c.550G>A (p.Gly184Arg) c.447-1509G>A (n.447-1509G>A) c.473G>A (p.Trp158Ter) | |
17 | g.42909406G>C | CA399655035 | G6PC1 | c.550G>C (p.Gly184Arg) c.447-1509G>C (n.447-1509G>C) c.473G>C (p.Trp158Ser) | |
17 | g.42909406G= | CA2260696669 | G6PC1 | c.550G= (p.Gly184=) c.447-1509G= (n.447-1509G=) c.473G= (p.Trp158=) | |
17 | g.42909406G>T | CA399655034 | G6PC1 | c.550G>T (p.Gly184Ter) c.447-1509G>T (n.447-1509G>T) c.473G>T (p.Trp158Leu) | ClinVar dbSNP |
17 | g.42909407G>A | CA256188 | G6PC1 | c.551G>A (p.Gly184Glu) c.447-1508G>A (n.447-1508G>A) c.474G>A (p.Trp158Ter) | ClinVar dbSNP |
17 | g.42909407G>C | CA399655036 | G6PC1 | c.551G>C (p.Gly184Ala) c.447-1508G>C (n.447-1508G>C) c.474G>C (p.Trp158Cys) | |
17 | g.42909407G= | CA2260696670 | G6PC1 | c.551G= (p.Gly184=) c.447-1508G= (n.447-1508G=) c.474G= (p.Trp158=) | |
17 | g.42909407G>T | CA16043527 | G6PC1 | c.551G>T (p.Gly184Val) c.447-1508G>T (n.447-1508G>T) c.474G>T (p.Trp158Cys) | ClinVar dbSNP |
17 | g.42909408A>C | CA399655037 | G6PC1 | c.552A>C (p.Gly184=) c.447-1507A>C (n.447-1507A>C) c.475A>C (p.Ser159Arg) | |
17 | g.42909408A>G | CA399655038 | G6PC1 | c.552A>G (p.Gly184=) c.447-1507A>G (n.447-1507A>G) c.475A>G (p.Ser159Gly) | |
17 | g.42909408A>T | CA399655039 | G6PC1 | c.552A>T (p.Gly184=) c.447-1507A>T (n.447-1507A>T) c.475A>T (p.Ser159Cys) | |
17 | g.42909409G>A | CA8587606 | G6PC1 | c.553G>A (p.Val185Ile) c.447-1506G>A (n.447-1506G>A) c.476G>A (p.Ser159Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42909409G>C | CA399655040 | G6PC1 | c.553G>C (p.Val185Leu) c.447-1506G>C (n.447-1506G>C) c.476G>C (p.Ser159Thr) | |
17 | g.42909409G= | CA2260696671 | G6PC1 | c.553G= (p.Val185=) c.447-1506G= (n.447-1506G=) c.476G= (p.Ser159=) | |
17 | g.42909409G>T | CA399655041 | G6PC1 | c.553G>T (p.Val185Phe) c.447-1506G>T (n.447-1506G>T) c.476G>T (p.Ser159Ile) | |
17 | g.42909410T>A | CA399655042 | G6PC1 | c.554T>A (p.Val185Asp) c.447-1505T>A (n.447-1505T>A) c.477T>A (p.Ser159Arg) | |
17 | g.42909410T>C | CA399655043 | G6PC1 | c.554T>C (p.Val185Ala) c.447-1505T>C (n.447-1505T>C) c.477T>C (p.Ser159=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42909410T>G | CA399655044 | G6PC1 | c.554T>G (p.Val185Gly) c.447-1505T>G (n.447-1505T>G) c.477T>G (p.Ser159Arg) | |
17 | g.42909410T= | CA2260696672 | G6PC1 | c.554T= (p.Val185=) c.447-1505T= (n.447-1505T=) c.477T= (p.Ser159=) | |
17 | g.42909411C>A | CA399655045 | G6PC1 | c.555C>A (p.Val185=) c.447-1504C>A (n.447-1504C>A) c.478C>A (p.Pro160Thr) | |
17 | g.42909411C>G | CA399655046 | G6PC1 | c.555C>G (p.Val185=) c.447-1504C>G (n.447-1504C>G) c.478C>G (p.Pro160Ala) | |
17 | g.42909411C>T | CA399655047 | G6PC1 | c.555C>T (p.Val185=) c.447-1504C>T (n.447-1504C>T) c.478C>T (p.Pro160Ser) | |
17 | g.42909412C>A | CA399655048 | G6PC1 | c.556C>A (p.Leu186Met) c.447-1503C>A (n.447-1503C>A) c.479C>A (p.Pro160His) | |
17 | g.42909412C>G | CA399655050 | G6PC1 | c.556C>G (p.Leu186Val) c.447-1503C>G (n.447-1503C>G) c.479C>G (p.Pro160Arg) | |
17 | g.42909412C>T | CA399655049 | G6PC1 | c.556C>T (p.Leu186=) c.447-1503C>T (n.447-1503C>T) c.479C>T (p.Pro160Leu) | COSMIC |
17 | g.42909413T>A | CA399655051 | G6PC1 | c.557T>A (p.Leu186Gln) c.447-1502T>A (n.447-1502T>A) c.480T>A (p.Pro160=) | |
17 | g.42909413T>C | CA399655052 | G6PC1 | c.557T>C (p.Leu186Pro) c.447-1502T>C (n.447-1502T>C) c.480T>C (p.Pro160=) | |
17 | g.42909413T>G | CA399655053 | G6PC1 | c.557T>G (p.Leu186Arg) c.447-1502T>G (n.447-1502T>G) c.480T>G (p.Pro160=) | |
17 | g.42909414_42909415del | CA2576280994 | G6PC1 | c.558_559del (p.Ser187ArgfsTer16) c.447-1501_447-1500del (n.447-1501_447-1500del) c.481_482del (p.Val161GlnfsTer?) | |
17 | g.42909414G>A | CA8587608 | G6PC1 | c.558G>A (p.Leu186=) c.447-1501G>A (n.447-1501G>A) c.481G>A (p.Val161Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42909414G>C | CA399655054 | G6PC1 | c.558G>C (p.Leu186=) c.447-1501G>C (n.447-1501G>C) c.481G>C (p.Val161Leu) | |
17 | g.42909414G= | CA2260696673 | G6PC1 | c.558G= (p.Leu186=) c.447-1501G= (n.447-1501G=) c.481G= (p.Val161=) | |
17 | g.42909414G>T | CA8587607 | G6PC1 | c.558G>T (p.Leu186=) c.447-1501G>T (n.447-1501G>T) c.481G>T (p.Val161Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42909415T>A | CA399655055 | G6PC1 | c.559T>A (p.Ser187Thr) c.447-1500T>A (n.447-1500T>A) c.482T>A (p.Val161Asp) | |
17 | g.42909415T>C | CA290789000 | G6PC1 | c.559T>C (p.Ser187Pro) c.447-1500T>C (n.447-1500T>C) c.482T>C (p.Val161Ala) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.42909415T>G | CA399655056 | G6PC1 | c.559T>G (p.Ser187Ala) c.447-1500T>G (n.447-1500T>G) c.482T>G (p.Val161Gly) | |
17 | g.42909415T= | CA2260696674 | G6PC1 | c.559T= (p.Ser187=) c.447-1500T= (n.447-1500T=) c.482T= (p.Val161=) | |
17 | g.42909416C>A | CA399655058 | G6PC1 | c.560C>A (p.Ser187Ter) c.447-1499C>A (n.447-1499C>A) c.483C>A (p.Val161=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42909416C= | CA2260696675 | G6PC1 | c.560C= (p.Ser187=) c.447-1499C= (n.447-1499C=) c.483C= (p.Val161=) | |
17 | g.42909416C>G | CA399655059 | G6PC1 | c.560C>G (p.Ser187Ter) c.447-1499C>G (n.447-1499C>G) c.483C>G (p.Val161=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42909416C>T | CA399655057 | G6PC1 | c.560C>T (p.Ser187Leu) c.447-1499C>T (n.447-1499C>T) c.483C>T (p.Val161=) | COSMIC |
17 | g.42909417A= | CA2260696676 | G6PC1 | c.561A= (p.Ser187=) c.447-1498A= (n.447-1498A=) c.484A= (p.Arg162=) | |
17 | g.42909417A>C | CA290789001 | G6PC1 | c.561A>C (p.Ser187=) c.447-1498A>C (n.447-1498A>C) c.484A>C (p.Arg162=) | dbSNP |
17 | g.42909417A>G | CA399655060 | G6PC1 | c.561A>G (p.Ser187=) c.447-1498A>G (n.447-1498A>G) c.484A>G (p.Arg162Gly) | gnomAD v4 COSMIC |
17 | g.42909417A>T | CA399655061 | G6PC1 | c.561A>T (p.Ser187=) c.447-1498A>T (n.447-1498A>T) c.484A>T (p.Arg162Trp) | gnomAD v4 |
17 | g.42909418G>A | CA321440 | G6PC1 | c.562G>A (p.Gly188Ser) c.447-1497G>A (n.447-1497G>A) c.485G>A (p.Arg162Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42909418G>C | CA256190 | G6PC1 | c.562G>C (p.Gly188Arg) c.447-1497G>C (n.447-1497G>C) c.485G>C (p.Arg162Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42909418G= | CA2260696677 | G6PC1 | c.562G= (p.Gly188=) c.447-1497G= (n.447-1497G=) c.485G= (p.Arg162=) | |
17 | g.42909418G>T | CA399655062 | G6PC1 | c.562G>T (p.Gly188Cys) c.447-1497G>T (n.447-1497G>T) c.485G>T (p.Arg162Met) | |
17 | g.42909419G>A | CA399655063 | G6PC1 | c.562+1G>A (n.562+1G>A) c.447-1496G>A (n.447-1496G>A) c.485+1G>A (n.485+1G>A) | |
17 | g.42909419G>C | CA399655064 | G6PC1 | c.562+1G>C (n.562+1G>C) c.447-1496G>C (n.447-1496G>C) c.485+1G>C (n.485+1G>C) | |
17 | g.42909419G= | CA2260696678 | G6PC1 | c.562+1G= (n.562+1G=) c.447-1496G= (n.447-1496G=) c.485+1G= (n.485+1G=) | |
17 | g.42909419G>T | CA399655065 | G6PC1 | c.562+1G>T (n.562+1G>T) c.447-1496G>T (n.447-1496G>T) c.485+1G>T (n.485+1G>T) | dbSNP |
17 | g.42909420T>A | CA399655066 | G6PC1 | c.562+2T>A (n.562+2T>A) c.447-1495T>A (n.447-1495T>A) c.485+2T>A (n.485+2T>A) | |
17 | g.42909420T>C | CA399655067 | G6PC1 | c.562+2T>C (n.562+2T>C) c.447-1495T>C (n.447-1495T>C) c.485+2T>C (n.485+2T>C) | |
17 | g.42909420T>G | CA399655068 | G6PC1 | c.562+2T>G (n.562+2T>G) c.447-1495T>G (n.447-1495T>G) c.485+2T>G (n.485+2T>G) | |
17 | g.42909421A= | CA2260696679 | G6PC1 | c.562+3A= (n.562+3A=) c.447-1494A= (n.447-1494A=) c.485+3A= (n.485+3A=) | |
17 | g.42909421A>G | CA290789018 | G6PC1 | c.562+3A>G (n.562+3A>G) c.447-1494A>G (n.447-1494A>G) c.485+3A>G (n.485+3A>G) | dbSNP gnomAD v4 |
17 | g.42909422T>A | CA2580093778 | G6PC1 | c.562+4T>A (n.562+4T>A) c.447-1493T>A (n.447-1493T>A) c.485+4T>A (n.485+4T>A) | ClinVar |
17 | g.42909422T>C | CA2733908581 | G6PC1 | c.562+4T>C (n.562+4T>C) c.447-1493T>C (n.447-1493T>C) c.485+4T>C (n.485+4T>C) | dbSNP |
17 | g.42909423G>C | CA2733908593 | G6PC1 | c.562+5G>C (n.562+5G>C) c.447-1492G>C (n.447-1492G>C) c.485+5G>C (n.485+5G>C) | dbSNP |
17 | g.42909423G>T | CA2638040826 | G6PC1 | c.562+5G>T (n.562+5G>T) c.447-1492G>T (n.447-1492G>T) c.485+5G>T (n.485+5G>T) | gnomAD v4 |
17 | g.42909424G>A | CA2260696681 | G6PC1 | c.562+6G>A (n.562+6G>A) c.447-1491G>A (n.447-1491G>A) c.485+6G>A (n.485+6G>A) | dbSNP gnomAD v4 |
17 | g.42909424G= | CA2260696680 | G6PC1 | c.562+6G= (n.562+6G=) c.447-1491G= (n.447-1491G=) c.485+6G= (n.485+6G=) | |
17 | g.42909424G>T | CA2733693745 | G6PC1 | c.562+6G>T (n.562+6G>T) c.447-1491G>T (n.447-1491G>T) c.485+6G>T (n.485+6G>T) | dbSNP |
17 | g.42909425G>A | CA983870889 | G6PC1 | c.562+7G>A (n.562+7G>A) c.447-1490G>A (n.447-1490G>A) c.485+7G>A (n.485+7G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42909425G= | CA2260696682 | G6PC1 | c.562+7G= (n.562+7G=) c.447-1490G= (n.447-1490G=) c.485+7G= (n.485+7G=) | |
17 | g.42909425G>T | CA2733693746 | G6PC1 | c.562+7G>T (n.562+7G>T) c.447-1490G>T (n.447-1490G>T) c.485+7G>T (n.485+7G>T) | dbSNP |
17 | g.42909426C>A | CA2260696684 | G6PC1 | c.562+8C>A (n.562+8C>A) c.447-1489C>A (n.447-1489C>A) c.485+8C>A (n.485+8C>A) | dbSNP gnomAD v4 |
17 | g.42909426C= | CA2260696683 | G6PC1 | c.562+8C= (n.562+8C=) c.447-1489C= (n.447-1489C=) c.485+8C= (n.485+8C=) | |
17 | g.42909427T>C | CA626070437 | G6PC1 | c.562+9T>C (n.562+9T>C) c.447-1488T>C (n.447-1488T>C) c.485+9T>C (n.485+9T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42909427T= | CA2260696685 | G6PC1 | c.562+9T= (n.562+9T=) c.447-1488T= (n.447-1488T=) c.485+9T= (n.485+9T=) | |
17 | g.42909428G>A | CA8587609 | G6PC1 | c.562+10G>A (n.562+10G>A) c.447-1487G>A (n.447-1487G>A) c.485+10G>A (n.485+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42909428G>C | CA2638040827 | G6PC1 | c.562+10G>C (n.562+10G>C) c.447-1487G>C (n.447-1487G>C) c.485+10G>C (n.485+10G>C) | gnomAD v4 |
17 | g.42909428G= | CA2260696686 | G6PC1 | c.562+10G= (n.562+10G=) c.447-1487G= (n.447-1487G=) c.485+10G= (n.485+10G=) | |
17 | g.42909429A= | CA2260696687 | G6PC1 | c.562+11A= (n.562+11A=) c.447-1486A= (n.447-1486A=) c.485+11A= (n.485+11A=) | |
17 | g.42909429A>C | CA626070438 | G6PC1 | c.562+11A>C (n.562+11A>C) c.447-1486A>C (n.447-1486A>C) c.485+11A>C (n.485+11A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42909431C>A | CA2638040828 | G6PC1 | c.562+13C>A (n.562+13C>A) c.447-1484C>A (n.447-1484C>A) c.485+13C>A (n.485+13C>A) | gnomAD v4 |
17 | g.42909431C= | CA2260696688 | G6PC1 | c.562+13C= (n.562+13C=) c.447-1484C= (n.447-1484C=) c.485+13C= (n.485+13C=) | |
17 | g.42909431C>G | CA2260696689 | G6PC1 | c.562+13C>G (n.562+13C>G) c.447-1484C>G (n.447-1484C>G) c.485+13C>G (n.485+13C>G) | dbSNP |
17 | g.42909432T>C | CA2638040829 | G6PC1 | c.562+14T>C (n.562+14T>C) c.447-1483T>C (n.447-1483T>C) c.485+14T>C (n.485+14T>C) | gnomAD v4 |
17 | g.42909432T>G | CA2733908603 | G6PC1 | c.562+14T>G (n.562+14T>G) c.447-1483T>G (n.447-1483T>G) c.485+14T>G (n.485+14T>G) | dbSNP |
17 | g.42909433G>A | CA2638040830 | G6PC1 | c.562+15G>A (n.562+15G>A) c.447-1482G>A (n.447-1482G>A) c.485+15G>A (n.485+15G>A) | gnomAD v4 |
17 | g.42909435C>A | CA2638040831 | G6PC1 | c.562+17C>A (n.562+17C>A) c.447-1480C>A (n.447-1480C>A) c.485+17C>A (n.485+17C>A) | gnomAD v4 |
17 | g.42909437C>T | CA2638040834 | G6PC1 | c.562+19C>T (n.562+19C>T) c.447-1478C>T (n.447-1478C>T) c.485+19C>T (n.485+19C>T) | ClinVar gnomAD v4 |
17 | g.42909439del | CA2638040833 | G6PC1 | c.562+21del (n.562+21del) c.447-1476del (n.447-1476del) c.485+21del (n.485+21del) | gnomAD v4 |
17 | g.42909438C>A | CA2638040835 | G6PC1 | c.562+20C>A (n.562+20C>A) c.447-1477C>A (n.447-1477C>A) c.485+20C>A (n.485+20C>A) | gnomAD v4 |
17 | g.42909438C= | CA2260696690 | G6PC1 | c.562+20C= (n.562+20C=) c.447-1477C= (n.447-1477C=) c.485+20C= (n.485+20C=) | |
17 | g.42909438C>T | CA772150576 | G6PC1 | c.562+20C>T (n.562+20C>T) c.447-1477C>T (n.447-1477C>T) c.485+20C>T (n.485+20C>T) | dbSNP gnomAD v4 |
17 | g.42909443_42909446del | CA2576281007 | G6PC1 | c.562+25_562+28del (n.562+25_562+28del) c.447-1472_447-1469del (n.447-1472_447-1469del) c.485+25_485+28del (n.485+25_485+28del) | ClinVar |
17 | g.42909439C= | CA2260696691 | G6PC1 | c.562+21C= (n.562+21C=) c.447-1476C= (n.447-1476C=) c.485+21C= (n.485+21C=) | |
17 | g.42909439C>G | CA626070439 | G6PC1 | c.562+21C>G (n.562+21C>G) c.447-1476C>G (n.447-1476C>G) c.485+21C>G (n.485+21C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42909439C>T | CA8587610 | G6PC1 | c.562+21C>T (n.562+21C>T) c.447-1476C>T (n.447-1476C>T) c.485+21C>T (n.485+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42909440T>A | CA2638040838 | G6PC1 | c.562+22T>A (n.562+22T>A) c.447-1475T>A (n.447-1475T>A) c.485+22T>A (n.485+22T>A) | gnomAD v4 |
17 | g.42909442C= | CA2260696692 | G6PC1 | c.562+24C= (n.562+24C=) c.447-1473C= (n.447-1473C=) c.485+24C= (n.485+24C=) | |
17 | g.42909442C>G | CA626070440 | G6PC1 | c.562+24C>G (n.562+24C>G) c.447-1473C>G (n.447-1473C>G) c.485+24C>G (n.485+24C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42909442C>T | CA626070441 | G6PC1 | c.562+24C>T (n.562+24C>T) c.447-1473C>T (n.447-1473C>T) c.485+24C>T (n.485+24C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42909443C>A | CA2576281009 | G6PC1 | c.562+25C>A (n.562+25C>A) c.447-1472C>A (n.447-1472C>A) c.485+25C>A (n.485+25C>A) | |
17 | g.42909445T>C | CA2733908631 | G6PC1 | c.562+27T>C (n.562+27T>C) c.447-1470T>C (n.447-1470T>C) c.485+27T>C (n.485+27T>C) | dbSNP |
17 | g.42909446C= | CA2260696693 | G6PC1 | c.562+28C= (n.562+28C=) c.447-1469C= (n.447-1469C=) c.485+28C= (n.485+28C=) | |
17 | g.42909446C>T | CA2260696694 | G6PC1 | c.562+28C>T (n.562+28C>T) c.447-1469C>T (n.447-1469C>T) c.485+28C>T (n.485+28C>T) | dbSNP |
17 | g.42909447T>C | CA2576281011 | G6PC1 | c.562+29T>C (n.562+29T>C) c.447-1468T>C (n.447-1468T>C) c.485+29T>C (n.485+29T>C) | gnomAD v4 |
17 | g.42909447T= | CA2260696695 | G6PC1 | c.562+29T= (n.562+29T=) c.447-1468T= (n.447-1468T=) c.485+29T= (n.485+29T=) |