| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.230690019C>A | CA423878486 | COG2 | c.1800C>A (p.Val600=) c.1797C>A (p.Val599=) c.*1658C>A (n.*1658C>A) n.59C>A n.579C>A c.1623C>A (p.Val541=) | |
| 1 | g.230690019C= | CA1226660373 | COG2 | c.1800C= (p.Val600=) c.1797C= (p.Val599=) c.*1658C= (n.*1658C=) n.59C= n.579C= c.1623C= (p.Val541=) | |
| 1 | g.230690019C>G | CA423878488 | COG2 | c.1800C>G (p.Val600=) c.1797C>G (p.Val599=) c.*1658C>G (n.*1658C>G) n.59C>G n.579C>G c.1623C>G (p.Val541=) | ClinVar |
| 1 | g.230690019C>T | CA423878491 | COG2 | c.1800C>T (p.Val600=) c.1797C>T (p.Val599=) c.*1658C>T (n.*1658C>T) n.59C>T n.579C>T c.1623C>T (p.Val541=) | dbSNP |
| 1 | g.230690020C>A | CA345198503 | COG2 | c.1801C>A (p.Pro601Thr) c.1798C>A (p.Pro600Thr) c.*1659C>A (n.*1659C>A) n.60C>A n.580C>A c.1624C>A (p.Pro542Thr) | |
| 1 | g.230690020C>G | CA345198505 | COG2 | c.1801C>G (p.Pro601Ala) c.1798C>G (p.Pro600Ala) c.*1659C>G (n.*1659C>G) n.60C>G n.580C>G c.1624C>G (p.Pro542Ala) | |
| 1 | g.230690020C>T | CA345198507 | COG2 | c.1801C>T (p.Pro601Ser) c.1798C>T (p.Pro600Ser) c.*1659C>T (n.*1659C>T) n.60C>T n.580C>T c.1624C>T (p.Pro542Ser) | |
| 1 | g.230690021C>A | CA345198510 | COG2 | c.1802C>A (p.Pro601Gln) c.1799C>A (p.Pro600Gln) c.*1660C>A (n.*1660C>A) n.61C>A n.581C>A c.1625C>A (p.Pro542Gln) | |
| 1 | g.230690021C>G | CA345198515 | COG2 | c.1802C>G (p.Pro601Arg) c.1799C>G (p.Pro600Arg) c.*1660C>G (n.*1660C>G) n.61C>G n.581C>G c.1625C>G (p.Pro542Arg) | |
| 1 | g.230690021C>T | CA345198513 | COG2 | c.1802C>T (p.Pro601Leu) c.1799C>T (p.Pro600Leu) c.*1660C>T (n.*1660C>T) n.61C>T n.581C>T c.1625C>T (p.Pro542Leu) | |
| 1 | g.230690022A>C | CA423878506 | COG2 | c.1803A>C (p.Pro601=) c.1800A>C (p.Pro600=) c.*1661A>C (n.*1661A>C) n.62A>C n.582A>C c.1626A>C (p.Pro542=) | |
| 1 | g.230690022A>G | CA423878508 | COG2 | c.1803A>G (p.Pro601=) c.1800A>G (p.Pro600=) c.*1661A>G (n.*1661A>G) n.62A>G n.582A>G c.1626A>G (p.Pro542=) | |
| 1 | g.230690022A>T | CA423878510 | COG2 | c.1803A>T (p.Pro601=) c.1800A>T (p.Pro600=) c.*1661A>T (n.*1661A>T) n.62A>T n.582A>T c.1626A>T (p.Pro542=) | |
| 1 | g.230690023A= | CA1226660375 | COG2 | c.1804A= (p.Thr602=) c.1801A= (p.Thr601=) c.*1662A= (n.*1662A=) n.63A= n.583A= c.1627A= (p.Thr543=) | |
| 1 | g.230690023A>C | CA345198519 | COG2 | c.1804A>C (p.Thr602Pro) c.1801A>C (p.Thr601Pro) c.*1662A>C (n.*1662A>C) n.63A>C n.583A>C c.1627A>C (p.Thr543Pro) | |
| 1 | g.230690023A>G | CA345198521 | COG2 | c.1804A>G (p.Thr602Ala) c.1801A>G (p.Thr601Ala) c.*1662A>G (n.*1662A>G) n.63A>G n.583A>G c.1627A>G (p.Thr543Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230690023A>T | CA345198524 | COG2 | c.1804A>T (p.Thr602Ser) c.1801A>T (p.Thr601Ser) c.*1662A>T (n.*1662A>T) n.63A>T n.583A>T c.1627A>T (p.Thr543Ser) | |
| 1 | g.230690024C>A | CA345198526 | COG2 | c.1805C>A (p.Thr602Asn) c.1802C>A (p.Thr601Asn) c.*1663C>A (n.*1663C>A) n.64C>A n.584C>A c.1628C>A (p.Thr543Asn) | gnomAD v4 |
| 1 | g.230690024C= | CA1147788894 | COG2 | c.1805C= (p.Thr602=) c.1802C= (p.Thr601=) c.*1663C= (n.*1663C=) n.64C= n.584C= c.1628C= (p.Thr543=) | |
| 1 | g.230690024C>G | CA345198529 | COG2 | c.1805C>G (p.Thr602Ser) c.1802C>G (p.Thr601Ser) c.*1663C>G (n.*1663C>G) n.64C>G n.584C>G c.1628C>G (p.Thr543Ser) | |
| 1 | g.230690024C>T | CA1447879 | COG2 | c.1805C>T (p.Thr602Ile) c.1802C>T (p.Thr601Ile) c.*1663C>T (n.*1663C>T) n.64C>T n.584C>T c.1628C>T (p.Thr543Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230690025C>A | CA423878523 | COG2 | c.1806C>A (p.Thr602=) c.1803C>A (p.Thr601=) c.*1664C>A (n.*1664C>A) n.65C>A n.585C>A c.1629C>A (p.Thr543=) | |
| 1 | g.230690025C>G | CA423878525 | COG2 | c.1806C>G (p.Thr602=) c.1803C>G (p.Thr601=) c.*1664C>G (n.*1664C>G) n.65C>G n.585C>G c.1629C>G (p.Thr543=) | |
| 1 | g.230690025C>T | CA423878528 | COG2 | c.1806C>T (p.Thr602=) c.1803C>T (p.Thr601=) c.*1664C>T (n.*1664C>T) n.65C>T n.585C>T c.1629C>T (p.Thr543=) | |
| 1 | g.230690026A= | CA1226660379 | COG2 | c.1807A= (p.Thr603=) c.1804A= (p.Thr602=) c.*1665A= (n.*1665A=) n.66A= n.586A= c.1630A= (p.Thr544=) | |
| 1 | g.230690026A>C | CA345198533 | COG2 | c.1807A>C (p.Thr603Pro) c.1804A>C (p.Thr602Pro) c.*1665A>C (n.*1665A>C) n.66A>C n.586A>C c.1630A>C (p.Thr544Pro) | |
| 1 | g.230690026A>G | CA1447880 | COG2 | c.1807A>G (p.Thr603Ala) c.1804A>G (p.Thr602Ala) c.*1665A>G (n.*1665A>G) n.66A>G n.586A>G c.1630A>G (p.Thr544Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230690026A>T | CA345198537 | COG2 | c.1807A>T (p.Thr603Ser) c.1804A>T (p.Thr602Ser) c.*1665A>T (n.*1665A>T) n.66A>T n.586A>T c.1630A>T (p.Thr544Ser) | |
| 1 | g.230690027C>A | CA345198540 | COG2 | c.1808C>A (p.Thr603Lys) c.1805C>A (p.Thr602Lys) c.*1666C>A (n.*1666C>A) n.67C>A n.587C>A c.1631C>A (p.Thr544Lys) | gnomAD v4 |
| 1 | g.230690027C>G | CA345198543 | COG2 | c.1808C>G (p.Thr603Arg) c.1805C>G (p.Thr602Arg) c.*1666C>G (n.*1666C>G) n.67C>G n.587C>G c.1631C>G (p.Thr544Arg) | gnomAD v4 |
| 1 | g.230690027C>T | CA345198545 | COG2 | c.1808C>T (p.Thr603Ile) c.1805C>T (p.Thr602Ile) c.*1666C>T (n.*1666C>T) n.67C>T n.587C>T c.1631C>T (p.Thr544Ile) | |
| 1 | g.230690028A>C | CA423878546 | COG2 | c.1809A>C (p.Thr603=) c.1806A>C (p.Thr602=) c.*1667A>C (n.*1667A>C) n.68A>C n.588A>C c.1632A>C (p.Thr544=) | |
| 1 | g.230690028A>G | CA423878549 | COG2 | c.1809A>G (p.Thr603=) c.1806A>G (p.Thr602=) c.*1667A>G (n.*1667A>G) n.68A>G n.588A>G c.1632A>G (p.Thr544=) | |
| 1 | g.230690028A>T | CA423878544 | COG2 | c.1809A>T (p.Thr603=) c.1806A>T (p.Thr602=) c.*1667A>T (n.*1667A>T) n.68A>T n.588A>T c.1632A>T (p.Thr544=) | |
| 1 | g.230690029G>A | CA345198550 | COG2 | c.1810G>A (p.Ala604Thr) c.1807G>A (p.Ala603Thr) c.*1668G>A (n.*1668G>A) n.69G>A n.589G>A c.1633G>A (p.Ala545Thr) | gnomAD v4 |
| 1 | g.230690029G>C | CA345198553 | COG2 | c.1810G>C (p.Ala604Pro) c.1807G>C (p.Ala603Pro) c.*1668G>C (n.*1668G>C) n.69G>C n.589G>C c.1633G>C (p.Ala545Pro) | |
| 1 | g.230690029G>T | CA345198549 | COG2 | c.1810G>T (p.Ala604Ser) c.1807G>T (p.Ala603Ser) c.*1668G>T (n.*1668G>T) n.69G>T n.589G>T c.1633G>T (p.Ala545Ser) | |
| 1 | g.230690030C>A | CA345198559 | COG2 | c.1811C>A (p.Ala604Asp) c.1808C>A (p.Ala603Asp) c.*1669C>A (n.*1669C>A) n.70C>A n.590C>A c.1634C>A (p.Ala545Asp) | |
| 1 | g.230690030C= | CA1148899883 | COG2 | c.1811C= (p.Ala604=) c.1808C= (p.Ala603=) c.*1669C= (n.*1669C=) n.70C= n.590C= c.1634C= (p.Ala545=) | |
| 1 | g.230690030C>G | CA345198557 | COG2 | c.1811C>G (p.Ala604Gly) c.1808C>G (p.Ala603Gly) c.*1669C>G (n.*1669C>G) n.70C>G n.590C>G c.1634C>G (p.Ala545Gly) | |
| 1 | g.230690030C>T | CA1447881 | COG2 | c.1811C>T (p.Ala604Val) c.1808C>T (p.Ala603Val) c.*1669C>T (n.*1669C>T) n.70C>T n.590C>T c.1634C>T (p.Ala545Val) | dbSNP ExAC gnomAD v2 |
| 1 | g.230690031T>A | CA423878579 | COG2 | c.1812T>A (p.Ala604=) c.1809T>A (p.Ala603=) c.*1670T>A (n.*1670T>A) n.71T>A n.591T>A c.1635T>A (p.Ala545=) | |
| 1 | g.230690031T>C | CA423878574 | COG2 | c.1812T>C (p.Ala604=) c.1809T>C (p.Ala603=) c.*1670T>C (n.*1670T>C) n.71T>C n.591T>C c.1635T>C (p.Ala545=) | gnomAD v4 |
| 1 | g.230690031T>G | CA423878577 | COG2 | c.1812T>G (p.Ala604=) c.1809T>G (p.Ala603=) c.*1670T>G (n.*1670T>G) n.71T>G n.591T>G c.1635T>G (p.Ala545=) | |
| 1 | g.230690032T>A | CA345198564 | COG2 | c.1813T>A (p.Ser605Thr) c.1810T>A (p.Ser604Thr) c.*1671T>A (n.*1671T>A) n.72T>A n.592T>A c.1636T>A (p.Ser546Thr) | |
| 1 | g.230690032T>C | CA345198566 | COG2 | c.1813T>C (p.Ser605Pro) c.1810T>C (p.Ser604Pro) c.*1671T>C (n.*1671T>C) n.72T>C n.592T>C c.1636T>C (p.Ser546Pro) | |
| 1 | g.230690032T>G | CA345198568 | COG2 | c.1813T>G (p.Ser605Ala) c.1810T>G (p.Ser604Ala) c.*1671T>G (n.*1671T>G) n.72T>G n.592T>G c.1636T>G (p.Ser546Ala) | |
| 1 | g.230690033C>A | CA1447882 | COG2 | c.1814C>A (p.Ser605Tyr) c.1811C>A (p.Ser604Tyr) c.*1672C>A (n.*1672C>A) n.73C>A n.593C>A c.1637C>A (p.Ser546Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230690033C= | CA1226660382 | COG2 | c.1814C= (p.Ser605=) c.1811C= (p.Ser604=) c.*1672C= (n.*1672C=) n.73C= n.593C= c.1637C= (p.Ser546=) | |
| 1 | g.230690033C>G | CA345198572 | COG2 | c.1814C>G (p.Ser605Cys) c.1811C>G (p.Ser604Cys) c.*1672C>G (n.*1672C>G) n.73C>G n.593C>G c.1637C>G (p.Ser546Cys) |