| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.43875277C>A | CA346670458 | ABCG8 | c.1620C>A (p.Phe540Leu) c.1617C>A (p.Phe539Leu) c.1632C>A (p.Phe544Leu) c.1629C>A (p.Phe543Leu) c.1404C>A (p.Phe468Leu) n.2122C>A n.2136C>A | |
| 2 | g.43875277C= | CA2493963660 | ABCG8 | c.1620C= (p.Phe540=) c.1617C= (p.Phe539=) c.1632C= (p.Phe544=) c.1629C= (p.Phe543=) c.1404C= (p.Phe468=) n.2122C= n.2136C= | |
| 2 | g.43875277C>G | CA346670459 | ABCG8 | c.1620C>G (p.Phe540Leu) c.1617C>G (p.Phe539Leu) c.1632C>G (p.Phe544Leu) c.1629C>G (p.Phe543Leu) c.1404C>G (p.Phe468Leu) n.2122C>G n.2136C>G | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.43875277C>T | CA1637564 | ABCG8 | c.1620C>T (p.Phe540=) c.1617C>T (p.Phe539=) c.1632C>T (p.Phe544=) c.1629C>T (p.Phe543=) c.1404C>T (p.Phe468=) n.2122C>T n.2136C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.43875278T>A | CA346670460 | ABCG8 | c.1621T>A (p.Cys541Ser) c.1618T>A (p.Cys540Ser) c.1633T>A (p.Cys545Ser) c.1630T>A (p.Cys544Ser) c.1405T>A (p.Cys469Ser) n.2123T>A n.2137T>A | |
| 2 | g.43875278T>C | CA346670461 | ABCG8 | c.1621T>C (p.Cys541Arg) c.1618T>C (p.Cys540Arg) c.1633T>C (p.Cys545Arg) c.1630T>C (p.Cys544Arg) c.1405T>C (p.Cys469Arg) n.2123T>C n.2137T>C | |
| 2 | g.43875278T>G | CA346670462 | ABCG8 | c.1621T>G (p.Cys541Gly) c.1618T>G (p.Cys540Gly) c.1633T>G (p.Cys545Gly) c.1630T>G (p.Cys544Gly) c.1405T>G (p.Cys469Gly) n.2123T>G n.2137T>G | |
| 2 | g.43875279G>A | CA346670463 | ABCG8 | c.1622G>A (p.Cys541Tyr) c.1619G>A (p.Cys540Tyr) c.1634G>A (p.Cys545Tyr) c.1631G>A (p.Cys544Tyr) c.1406G>A (p.Cys469Tyr) n.2124G>A n.2138G>A | gnomAD v4 |
| 2 | g.43875279G>C | CA346670464 | ABCG8 | c.1622G>C (p.Cys541Ser) c.1619G>C (p.Cys540Ser) c.1634G>C (p.Cys545Ser) c.1631G>C (p.Cys544Ser) c.1406G>C (p.Cys469Ser) n.2124G>C n.2138G>C | |
| 2 | g.43875279G= | CA2493963661 | ABCG8 | c.1622G= (p.Cys541=) c.1619G= (p.Cys540=) c.1634G= (p.Cys545=) c.1631G= (p.Cys544=) c.1406G= (p.Cys469=) n.2124G= n.2138G= | |
| 2 | g.43875279G>T | CA1637565 | ABCG8 | c.1622G>T (p.Cys541Phe) c.1619G>T (p.Cys540Phe) c.1634G>T (p.Cys545Phe) c.1631G>T (p.Cys544Phe) c.1406G>T (p.Cys469Phe) n.2124G>T n.2138G>T | dbSNP ExAC |
| 2 | g.43875280T>A | CA346670465 | ABCG8 | c.1623T>A (p.Cys541Ter) c.1620T>A (p.Cys540Ter) c.1635T>A (p.Cys545Ter) c.1632T>A (p.Cys544Ter) c.1407T>A (p.Cys469Ter) n.2125T>A n.2139T>A | |
| 2 | g.43875280T>C | CA426116396 | ABCG8 | c.1623T>C (p.Cys541=) c.1620T>C (p.Cys540=) c.1635T>C (p.Cys545=) c.1632T>C (p.Cys544=) c.1407T>C (p.Cys469=) n.2125T>C n.2139T>C | |
| 2 | g.43875280T>G | CA346670466 | ABCG8 | c.1623T>G (p.Cys541Trp) c.1620T>G (p.Cys540Trp) c.1635T>G (p.Cys545Trp) c.1632T>G (p.Cys544Trp) c.1407T>G (p.Cys469Trp) n.2125T>G n.2139T>G | |
| 2 | g.43875281T>A | CA346670467 | ABCG8 | c.1624T>A (p.Cys542Ser) c.1621T>A (p.Cys541Ser) c.1636T>A (p.Cys546Ser) c.1633T>A (p.Cys545Ser) c.1408T>A (p.Cys470Ser) n.2126T>A n.2140T>A | |
| 2 | g.43875281T>C | CA1637566 | ABCG8 | c.1624T>C (p.Cys542Arg) c.1621T>C (p.Cys541Arg) c.1636T>C (p.Cys546Arg) c.1633T>C (p.Cys545Arg) c.1408T>C (p.Cys470Arg) n.2126T>C n.2140T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.43875281T>G | CA346670468 | ABCG8 | c.1624T>G (p.Cys542Gly) c.1621T>G (p.Cys541Gly) c.1636T>G (p.Cys546Gly) c.1633T>G (p.Cys545Gly) c.1408T>G (p.Cys470Gly) n.2126T>G n.2140T>G | |
| 2 | g.43875281T= | CA2493963662 | ABCG8 | c.1624T= (p.Cys542=) c.1621T= (p.Cys541=) c.1636T= (p.Cys546=) c.1633T= (p.Cys545=) c.1408T= (p.Cys470=) n.2126T= n.2140T= | |
| 2 | g.43875282G>A | CA346670469 | ABCG8 | c.1625G>A (p.Cys542Tyr) c.1622G>A (p.Cys541Tyr) c.1637G>A (p.Cys546Tyr) c.1634G>A (p.Cys545Tyr) c.1409G>A (p.Cys470Tyr) n.2127G>A n.2141G>A | ClinVar |
| 2 | g.43875282G>C | CA346670470 | ABCG8 | c.1625G>C (p.Cys542Ser) c.1622G>C (p.Cys541Ser) c.1637G>C (p.Cys546Ser) c.1634G>C (p.Cys545Ser) c.1409G>C (p.Cys470Ser) n.2127G>C n.2141G>C | |
| 2 | g.43875282G>T | CA346670471 | ABCG8 | c.1625G>T (p.Cys542Phe) c.1622G>T (p.Cys541Phe) c.1637G>T (p.Cys546Phe) c.1634G>T (p.Cys545Phe) c.1409G>T (p.Cys470Phe) n.2127G>T n.2141G>T | |
| 2 | g.43875283C>A | CA346670472 | ABCG8 | c.1626C>A (p.Cys542Ter) c.1623C>A (p.Cys541Ter) c.1638C>A (p.Cys546Ter) c.1635C>A (p.Cys545Ter) c.1410C>A (p.Cys470Ter) n.2128C>A n.2142C>A | |
| 2 | g.43875283C>G | CA346670473 | ABCG8 | c.1626C>G (p.Cys542Trp) c.1623C>G (p.Cys541Trp) c.1638C>G (p.Cys546Trp) c.1635C>G (p.Cys545Trp) c.1410C>G (p.Cys470Trp) n.2128C>G n.2142C>G | |
| 2 | g.43875283C>T | CA426116398 | ABCG8 | c.1626C>T (p.Cys542=) c.1623C>T (p.Cys541=) c.1638C>T (p.Cys546=) c.1635C>T (p.Cys545=) c.1410C>T (p.Cys470=) n.2128C>T n.2142C>T | |
| 2 | g.43875284A>C | CA426116400 | ABCG8 | c.1627A>C (p.Arg543=) c.1624A>C (p.Arg542=) c.1639A>C (p.Arg547=) c.1636A>C (p.Arg546=) c.1411A>C (p.Arg471=) n.2129A>C n.2143A>C | |
| 2 | g.43875284A>G | CA346670474 | ABCG8 | c.1627A>G (p.Arg543Gly) c.1624A>G (p.Arg542Gly) c.1639A>G (p.Arg547Gly) c.1636A>G (p.Arg546Gly) c.1411A>G (p.Arg471Gly) n.2129A>G n.2143A>G | gnomAD v4 |
| 2 | g.43875284A>T | CA346670475 | ABCG8 | c.1627A>T (p.Arg543Trp) c.1624A>T (p.Arg542Trp) c.1639A>T (p.Arg547Trp) c.1636A>T (p.Arg546Trp) c.1411A>T (p.Arg471Trp) n.2129A>T n.2143A>T | |
| 2 | g.43875285G>A | CA346670476 | ABCG8 | c.1628G>A (p.Arg543Lys) c.1625G>A (p.Arg542Lys) c.1640G>A (p.Arg547Lys) c.1637G>A (p.Arg546Lys) c.1412G>A (p.Arg471Lys) n.2130G>A n.2144G>A | gnomAD v4 COSMIC |
| 2 | g.43875285G>C | CA346670477 | ABCG8 | c.1628G>C (p.Arg543Thr) c.1625G>C (p.Arg542Thr) c.1640G>C (p.Arg547Thr) c.1637G>C (p.Arg546Thr) c.1412G>C (p.Arg471Thr) n.2130G>C n.2144G>C | |
| 2 | g.43875285G>T | CA346670478 | ABCG8 | c.1628G>T (p.Arg543Met) c.1625G>T (p.Arg542Met) c.1640G>T (p.Arg547Met) c.1637G>T (p.Arg546Met) c.1412G>T (p.Arg471Met) n.2130G>T n.2144G>T | |
| 2 | g.43875286G>A | CA426116401 | ABCG8 | c.1629G>A (p.Arg543=) c.1626G>A (p.Arg542=) c.1641G>A (p.Arg547=) c.1638G>A (p.Arg546=) c.1413G>A (p.Arg471=) n.2131G>A n.2145G>A | ClinVar dbSNP |
| 2 | g.43875286G>C | CA346670479 | ABCG8 | c.1629G>C (p.Arg543Ser) c.1626G>C (p.Arg542Ser) c.1641G>C (p.Arg547Ser) c.1638G>C (p.Arg546Ser) c.1413G>C (p.Arg471Ser) n.2131G>C n.2145G>C | |
| 2 | g.43875286G= | CA2493963663 | ABCG8 | c.1629G= (p.Arg543=) c.1626G= (p.Arg542=) c.1641G= (p.Arg547=) c.1638G= (p.Arg546=) c.1413G= (p.Arg471=) n.2131G= n.2145G= | |
| 2 | g.43875286G>T | CA1637567 | ABCG8 | c.1629G>T (p.Arg543Ser) c.1626G>T (p.Arg542Ser) c.1641G>T (p.Arg547Ser) c.1638G>T (p.Arg546Ser) c.1413G>T (p.Arg471Ser) n.2131G>T n.2145G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.43875287A>C | CA346670480 | ABCG8 | c.1630A>C (p.Ile544Leu) c.1627A>C (p.Ile543Leu) c.1642A>C (p.Ile548Leu) c.1639A>C (p.Ile547Leu) c.1414A>C (p.Ile472Leu) n.2132A>C n.2146A>C | COSMIC |
| 2 | g.43875287A>G | CA346670481 | ABCG8 | c.1630A>G (p.Ile544Val) c.1627A>G (p.Ile543Val) c.1642A>G (p.Ile548Val) c.1639A>G (p.Ile547Val) c.1414A>G (p.Ile472Val) n.2132A>G n.2146A>G | |
| 2 | g.43875287A>T | CA346670482 | ABCG8 | c.1630A>T (p.Ile544Phe) c.1627A>T (p.Ile543Phe) c.1642A>T (p.Ile548Phe) c.1639A>T (p.Ile547Phe) c.1414A>T (p.Ile472Phe) n.2132A>T n.2146A>T | |
| 2 | g.43875288T>A | CA346670483 | ABCG8 | c.1631T>A (p.Ile544Asn) c.1628T>A (p.Ile543Asn) c.1643T>A (p.Ile548Asn) c.1640T>A (p.Ile547Asn) c.1415T>A (p.Ile472Asn) n.2133T>A n.2147T>A | dbSNP gnomAD v4 |
| 2 | g.43875288T>C | CA346670484 | ABCG8 | c.1631T>C (p.Ile544Thr) c.1628T>C (p.Ile543Thr) c.1643T>C (p.Ile548Thr) c.1640T>C (p.Ile547Thr) c.1415T>C (p.Ile472Thr) n.2133T>C n.2147T>C | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.43875288T>G | CA346670485 | ABCG8 | c.1631T>G (p.Ile544Ser) c.1628T>G (p.Ile543Ser) c.1643T>G (p.Ile548Ser) c.1640T>G (p.Ile547Ser) c.1415T>G (p.Ile472Ser) n.2133T>G n.2147T>G | |
| 2 | g.43875288T= | CA2493963664 | ABCG8 | c.1631T= (p.Ile544=) c.1628T= (p.Ile543=) c.1643T= (p.Ile548=) c.1640T= (p.Ile547=) c.1415T= (p.Ile472=) n.2133T= n.2147T= | |
| 2 | g.43875289T>A | CA426116402 | ABCG8 | c.1632T>A (p.Ile544=) c.1629T>A (p.Ile543=) c.1644T>A (p.Ile548=) c.1641T>A (p.Ile547=) c.1416T>A (p.Ile472=) n.2134T>A n.2148T>A | |
| 2 | g.43875289T>C | CA426116403 | ABCG8 | c.1632T>C (p.Ile544=) c.1629T>C (p.Ile543=) c.1644T>C (p.Ile548=) c.1641T>C (p.Ile547=) c.1416T>C (p.Ile472=) n.2134T>C n.2148T>C | |
| 2 | g.43875289T>G | CA346670486 | ABCG8 | c.1632T>G (p.Ile544Met) c.1629T>G (p.Ile543Met) c.1644T>G (p.Ile548Met) c.1641T>G (p.Ile547Met) c.1416T>G (p.Ile472Met) n.2134T>G n.2148T>G | COSMIC |
| 2 | g.43875290A>C | CA346670487 | ABCG8 | c.1633A>C (p.Met545Leu) c.1630A>C (p.Met544Leu) c.1645A>C (p.Met549Leu) c.1642A>C (p.Met548Leu) c.1417A>C (p.Met473Leu) n.2135A>C n.2149A>C | |
| 2 | g.43875290A>G | CA346670488 | ABCG8 | c.1633A>G (p.Met545Val) c.1630A>G (p.Met544Val) c.1645A>G (p.Met549Val) c.1642A>G (p.Met548Val) c.1417A>G (p.Met473Val) n.2135A>G n.2149A>G | |
| 2 | g.43875290A>T | CA346670489 | ABCG8 | c.1633A>T (p.Met545Leu) c.1630A>T (p.Met544Leu) c.1645A>T (p.Met549Leu) c.1642A>T (p.Met548Leu) c.1417A>T (p.Met473Leu) n.2135A>T n.2149A>T | |
| 2 | g.43875291T>A | CA346670490 | ABCG8 | c.1634T>A (p.Met545Lys) c.1631T>A (p.Met544Lys) c.1646T>A (p.Met549Lys) c.1643T>A (p.Met548Lys) c.1418T>A (p.Met473Lys) n.2136T>A n.2150T>A | |
| 2 | g.43875291T>C | CA346670491 | ABCG8 | c.1634T>C (p.Met545Thr) c.1631T>C (p.Met544Thr) c.1646T>C (p.Met549Thr) c.1643T>C (p.Met548Thr) c.1418T>C (p.Met473Thr) n.2136T>C n.2150T>C | |
| 2 | g.43875291T>G | CA346670492 | ABCG8 | c.1634T>G (p.Met545Arg) c.1631T>G (p.Met544Arg) c.1646T>G (p.Met549Arg) c.1643T>G (p.Met548Arg) c.1418T>G (p.Met473Arg) n.2136T>G n.2150T>G |